#CUI|DEF|source|SUPPRESS|
C0000727|A sudden onset of abdominal pain with associated nausea or vomiting. The acute abdomen may be caused by an infection, inflammation, vascular occlusion, or obstruction.|HPO|N|
C0000729|A type of abdominal pain characterized by a feeling of contractions and typically fluctuating in intensity.|HPO|N|
C0000731|Distention of the abdomen.|HPO|N|
C0000734|An abnormal enlargement or swelling in the abdomen.|HPO|N|
C0000735|New abnormal growth of tissue in the ABDOMEN.|MSH|N|
C0000737|An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen.|HPO|N|
C0000744|Abetalipoproteinemia typically presents in infancy with failure to thrive, diarrhea, vomiting, and malabsorption of fat. Hematologic manifestations may include acanthocytosis (irregularly spiculated erythrocytes), anemia, reticulocytosis, and hemolysis with resultant hyperbilirubinemia. Malabsorption of fat-soluble vitamins (A, D, E, and K) can result in an increased international normalized ratio (INR). Untreated individuals may develop atypical pigmentation of the retina that may present with progressive loss of night vision and/or color vision in adulthood. Neuromuscular findings in untreated individuals including progressive loss of deep tendon reflexes, vibratory sense, and proprioception; muscle weakness; dysarthria; and ataxia typically manifest in the first or second decades of life.|GeneReviews|N|
C0000768|Structural or functional abnormalities of the fetus. Note that this section comprises terms that describe abnormalities that are specific to the fetus or differ from the corresponding general terms. A term from anywhere in the Human Phenotype Ontology can be applied to a fetus if appropriate.|HPO|N|
C0000771|Congenital abnormalities caused by medicinal substances or drugs of abuse given to or taken by the mother, or to which she is inadvertently exposed during the manufacture of such substances. The concept excludes abnormalities resulting from exposure to non-medicinal chemicals in the environment.|MSH|N|
C0000772|The presence of multiple congenital malformations in a patient.|NCI|N|
C0000778|The ABO system consists of A and B antigens and antibodies against these antigens.|HPO|N|
C0000786|Fetal loss at less than 20 weeks of gestation.|NCI|N|
C0000804|Unlawfully induced expulsion of all products of conception.|NCI|N|
C0000809|Three or more consecutive spontaneous abortions.|MONDO|N|
C0000810|Premature loss of PREGNANCY in which not all the products of CONCEPTION have been expelled.|MSH|N|
C0000814|Retention in uterus of an abortus.|NCI|N|
C0000817|Any type of abortion, induced or spontaneous, that is associated with infection of the UTERUS and its appendages. It is characterized by FEVER, uterine tenderness, and foul discharge.|MSH|N|
C0000820|Delivery by means of therapeutic termination of pregnancy. Therapeutic abortion may be done to end a pregnancy if the mother's life is in danger or if the baby has abnormalities involving the major organ systems and is not expected to survive after birth or by choice.|HPO|N|
C0000821|Vaginal bleeding preceding the 20th week of gestation.|NCI|N|
C0000823|Premature expulsion of the FETUS in animals.|MSH|N|
C0000832|Separation of the placenta from the uterus wall before delivery.|HPO|N|
C0000833|An inflammatory process characterized by the accumulation of pus within a newly formed tissue cavity which is the result of a bacterial, fungal, or parasitic infection or the presence of a foreign body.|NCI|N|
C0000846|A congenital abnormality resulting in the absence of an anatomical structure.|NCI|N|
C0000880|A rare corneal infection due to the protozoan <i>Acanthamoeba</i> that generally occurs in contact lens wearers and that is characterized by severe ocular pain, blepharospasm, photophobia, eye tearing, blurred vision and foreign body sensation. It can lead to impaired visual acuity if not treated promptly.|ORDO|N|
C0000887|The loss of intercellular connections, such as desmosomes, resulting in loss of cohesion between keratinocytes.|HPO|N|
C0000889|A dermatosis characterized by thickened, hyperpigmented plaques, typically on the intertriginous surfaces and neck.|HPO|N|
C0001038|Acetylation involves the covalent linkage of an acetyl group into an organic molecule.|NCI|N|
C0001075|A condition in which production of hydrochloric acid in the stomach is absent.|HPO|N|
C0001079|A rare group of lethal skeletal dysplasias characterized by an endochondral ossification deficiency that leads to dwarfism with extreme micromelia, a small thorax, a prominent abdomen, anasarca and polyhydramnios. There are three types of achondrogenesis that exist and that differ clinically, radiologically, histologically and genetically: achondrogensis type 1a, type 1b and type 2.|ORDO|N|
C0001080|Achondroplasia is the most common cause of disproportionate short stature. Affected individuals have rhizomelic shortening of the limbs, macrocephaly, and characteristic facial features with frontal bossing and midface retrusion. In infancy, hypotonia is typical, and acquisition of developmental motor milestones is often both aberrant in pattern and delayed. Intelligence and life span are usually near normal, although craniocervical junction compression increases the risk of death in infancy. Additional complications include obstructive sleep apnea, middle ear dysfunction, kyphosis, and spinal stenosis.|GeneReviews|N|
C0001118|An abnormality of the balance or maintenance of the balance of acids and bases in bodily fluids, resulting in an abnormal pH.|HPO|N|
C0001122|Abnormal acid accumulation or depletion of base.|HPO|N|
C0001125|An abnormal buildup of lactic acid in the body, leading to acidification of the blood and other bodily fluids.|HPO|N|
C0001126|Acidosis owing to malfunction of the kidney tubules with accumulation of metabolic acids and hyperchloremia, potentially leading to complications including hypokalemia, hypercalcinuria, nephrolithiasis and nephrocalcinosis.|HPO|N|
C0001127|Acidosis because of respiratory retention of carbon dioxide.|HPO|N|
C0001139|An infection by Acinetobacter baumannii, a Gram-negative bacillus that is aerobic, pleomorphic and non-motile. An opportunistic pathogen, A. baumannii has a high incidence among immunocompromised individuals, particularly those who have experienced a prolonged (over 90 d) hospital stay.|HPO|N|
C0001144|An inflammatory process of the sebaceous glands which is characterized by comedones, nodules, papules and/or pustules on the skin.|NCI|N|
C0001145|A chronic eruption of fibrous papules that develop and fuse to form a thick sclerotic, hypertrophic band at a site of deep folliculitis, usually along the posterior hairline of the scalp. It is most commonly seen in men of African descent.|NCI|N|
C0001163|A non-neoplastic or neoplastic disorder affecting the acoustic nerve.|NCI|N|
C0001169|Deficiency of a coagulation factor that is not caused by genetic alterations. Causes include vitamin K deficiency, amyloidosis, and severe liver disease.|NCI|N|
C0001175|A syndrome resulting from the acquired deficiency of cellular immunity caused by the human immunodeficiency virus (HIV). It is characterized by the reduction of the Helper T-lymphocytes in the peripheral blood and the lymph nodes. Symptoms include generalized lymphadenopathy, fever, weight loss, and chronic diarrhea. Patients with AIDS are especially susceptible to opportunistic infections, tuberculosis, candida infections, and cryptococcosis), and the development of malignant neoplasms (usually non-Hodgkin lymphoma and Kaposi sarcoma). The human immunodeficiency virus is transmitted through sexual contact, sharing of contaminated needles, or transfusion of contaminated blood.|NCI|N|
C0001193|Apert syndrome is characterized by the presence of multisuture craniosynostosis, midface retrusion, and syndactyly of the hands with fusion of the second through fourth nails. Almost all affected individuals have coronal craniosynostosis, and a majority also have involvement of the sagittal and lambdoid sutures. The midface in Apert syndrome is underdeveloped as well as retruded; a subset of affected individuals have cleft palate. The hand in Apert syndrome always includes fusion of the middle three digits; the thumb and fifth finger are sometimes also involved. Feeding issues, dental abnormalities, hearing loss, hyperhidrosis, and progressive synostosis of multiple bones (skull, hands, feet, carpus, tarsus, and cervical vertebrae) are also common. Multilevel airway obstruction may be present and can be due to narrowing of the nasal passages, tongue-based airway obstruction, and/or tracheal anomalies. Nonprogressive ventriculomegaly is present in a majority of individuals, with a small subset having true hydrocephalus. Most individuals with Apert syndrome have normal intelligence or mild intellectual disability; moderate-to-severe intellectual disability has been reported in some individuals. A minority of affected individuals have structural cardiac abnormalities, true gastrointestinal malformations, and anomalies of the genitourinary tract.|GeneReviews|N|
C0001197|An inflammatory skin condition affecting children. It is often associated with Epstein-Barr virus infection, hepatitis B infection or cytomegalovirus infection. It is characterized by the presence of cutaneous rashes and patches on the palms and soles. The trunk is not affected.|NCI|N|
C0001202|Overgrowth of the stratum corneum characterized by flesh-coloured or slightly pigmented smooth or warty papules on the upper surface of hands and feet.|HPO|N|
C0001206|A rare acquired endocrine disease related to excessive production of growth hormone (GH) and characterized by progressive somatic disfigurement (mainly involving the face and extremities) and systemic manifestations.|ORDO|N|
C0001231|A syndrome characterized by abnormal secretion of adrenocorticotrophic hormone in conjunction with neoplastic growth occurring anywhere in the body. The most common associations are tumors of the bronchus (oat cell or carcinoid), thymic tumors (epithelial or carcinoid), and pancreatic endocrine tumor. (DeVita et al. Cancer, p 1364. 4th edition. Lippincott)|NCI|N|
C0001247|A disease characterized by suppurative and granulomatous lesions in the respiratory tract, upper alimentary tract, skin, kidneys, joints, and other tissues. Actinobacillus lignieresii infects cattle and sheep while A. equuli infects horses and pigs.|MSH|N|
C0001249|Infections with bacteria of the genus ACTINOBACILLUS.|MSH|N|
C0001255|An infectious process caused by actinomycetales which is an order of Actinobacteria.|NCI|N|
C0001261|A rare bacterial infectious disease characterized by a chronic granulomatous infection by <i>Actinomyces</i> species which are commensals in the human gastrointestinal and urogenital tract and oropharynx. Corresponding to the affected site, the disease presents as cervicofacial, respiratory tract, genitourinary tract, digestive tract, central nervous system, or cutaneous actinomycosis and leads to the formation of abscesses and fistulae in the respective region.|ORDO|N|
C0001264|Actinomycotic infection of the face and hands.|NCI|N|
C0001306|Acute hepatitis resulting from ingestion of alcohol.|NCI|N|
C0001309|Atopic conjunctivitis that is of relatively short duration and that has a rapid onset.|NCI|N|
C0001311|Acute inflammation of the bronchioles usually caused by the respiratory syncytial virus.|NCI|N|
C0001314|Any disease of sudden onset AND/OR short duration|SNOMEDCT_US|N|
C0001327|An acute inflammatory process affecting the larynx. It is caused by bacteria, viruses, or vocal strain. Signs and symptoms include sore throat, cough, swallowing difficulties, and hoarseness.|NCI|N|
C0001339|A acute form of pancreatitis.|HPO|N|
C0001342|An acute inflammatory process that affects the tissues that surround and support the teeth.|NCI|N|
C0001344|An acute and painful inflammatory process that affects the pharynx. It is usually caused by viruses and less often bacteria. Signs and symptoms include discomfort on swallowing, low-grade fever, headache, and earache.|NCI|N|
C0001349|Presence of one or more manifestations of the acute phase response. Acute phase proteins (APP) are blood proteins primarily synthesized by hepatocytes as part of the acute phase response (APR). The APR is part of the early-defense or innate immune system, which is triggered by different stimuli including trauma, infection, stress, neoplasia, and inflammation. The APR results in a complex systemic reaction with the goal of reestablishing homeostasis and promoting healing.|HPO|N|
C0001360|Acute form of thyroiditis (disease).|MONDO|N|
C0001361|An acute inflammation of the tonsils caused by viruses or bacteria. Signs and symptoms include fever, enlargement of the tonsils, difficulty swallowing, and enlargement of the regional lymph nodes.|NCI|N|
C0001363|Ischemia of the intestine that is rapid in onset.|NCI|N|
C0001364|Extensive and rapid death of parenchymal cells in the LIVER, often due to exposure to toxic materials or drug-induced injury. It is characterized by a soft, flabby, yellow-brown wrinkled, and shrunken liver. It was called ""acute yellow atrophy"".|MSH|N|
C0001396|An episode of sudden and transient loss of consciousness sometimes associated with seizures. It is caused by a sudden decrease of the cardiac output that results from a sudden cardiac dysrhythmia. Typically patients develop an initial pallor, followed by facial flush during recovery.|NCI|N|
C0001403|Chronic primary adrenal insufficiency (CPAI) is a chronic disorder of the adrenal cortex resulting in the inadequate production of glucocorticoid and mineralocorticoid hormones.|ORDO|N|
C0001418|A common cancer characterized by the presence of malignant glandular cells. Morphologically, adenocarcinomas are classified according to the growth pattern (e.g., papillary, alveolar) or according to the secreting product (e.g., mucinous, serous). Representative examples of adenocarcinoma are ductal and lobular breast carcinoma, lung adenocarcinoma, renal cell carcinoma, hepatocellular carcinoma (hepatoma), colon adenocarcinoma, and prostate adenocarcinoma.|NCI|N|
C0001420|A morphologic variant of adenocarcinoma. It is characterized by the presence of a papillary growth pattern. Representative examples include thyroid gland papillary carcinoma, invasive papillary breast carcinoma, and ovarian serous surface papillary adenocarcinoma.|NCI|N|
C0001422|A benign neoplasm characterized by the presence of connective tissue stroma and epithelial structures. It occurs in the ovary, fallopian tube, uterine corpus, and cervix. Cases of adenofibroma of the ovary with low grade malignant potential have also been reported.|MONDO|N|
C0001427|An inflammation of the adenoid tissue.|HPO|N|
C0001429|An adenoma characterized by an oncocytic, often papillary, epithelial component, dense lymphoid stroma, and cystic spaces. It occurs primarily in the parotid gland, and is the second most common benign parotid salivary gland tumor. A strong association with smoking has been reported. It typically presents as a painless swelling in the lower portion of the parotid gland.|NCI|N|
C0001430|A neoplasm arising from the epithelium. It may be encapsulated or non-encapsulated but non-invasive. The neoplastic epithelial cells may or may not display cellular atypia or dysplasia. In the gastrointestinal tract, when dysplasia becomes severe it is sometimes called carcinoma in situ. Representative examples are pituitary gland adenoma, follicular adenoma of the thyroid gland, and adenomas (or adenomatous polyps) of the gastrointestinal tract.|NCI|N|
C0001431|An epithelial neoplasm of the anterior pituitary gland in which the neoplastic cells stain positive with basic dyes.|NCI|N|
C0001432|An epithelial neoplasm of the anterior pituitary gland in which the neoplastic cells do not stain with acidic or basic dyes.|NCI|N|
C0001433|An epithelial neoplasm of the anterior pituitary gland in which the neoplastic cells stain positive with acidic dyes.|NCI|N|
C0001442|A low grade malignant neoplasm characterized by the presence of a benign epithelial component (tubular and cleft-like glands) and a low grade sarcomatous component that contains varying amounts of fibrous and smooth muscle tissues. In a minority of cases, the sarcomatous component contains heterologous elements including striated muscle, cartilage, and fat. It occurs in the uterine corpus, ovary, fallopian tube, cervix, and vagina. It may recur and in a minority of cases may metastasize to distant anatomic sites.|NCI|N|
C0001486|An infectious process caused by adenovirus. The virus may cause respiratory illness, conjunctivitis, gastroenteritis, and cystitis.|NCI|N|
C0001487|Respiratory and conjunctival infections caused by 33 identified serotypes of human adenoviruses.|MSH|N|
C0001511|A fibrous band of tissue that connects normally separate body regions.|NCI|N|
C0001519|Adie pupil is a pupillary dysfunction characterized by a poor pupillary light reaction, reduced accommodation, sector palsies of the iris, and enhanced pupillary response to near effort (i.e., attempting to focus on a near object) (summary by Triggs et al., 2006).|OMIM|N|
C0001529|Adiposis dolorosa, also known as Dercum disease, is characterized by generalized obesity and pronounced, disabling, and chronic pain in the adipose tissue of the proximal extremities, trunk, pelvic area, and buttocks; the face and hands are usually spared. There are a number of associated symptoms, including multiple lipomas, generalized weakness, fatigue, sleep disturbances, constipation, and psychiatric abnormalities. It is 5 to 30 times more common in women than men, and usually presents between 35 and 50 years of age (summary by Campen et al., 2001; review by Hansson et al., 2012).
Based on a review of the literature and studies of 111 patients, Hansson et al. (2012) proposed a classification of Dercum disease into 4 types: (I) generalized diffuse form without clear lipomas, (II) generalized nodular form with multiple lipomas, (III) localized nodular form, and (IV) juxtaarticular form with solitary fatty deposits near joints.|OMIM|N|
C0001546|A category of psychiatric disorders which are characterized by emotional or behavioral symptoms that develop within 3 months of a stressor and do not persist for more than an additional 6 months after the stressor is no longer present.|NCI|N|
C0001548|Temporary maladaptive depressive signs and symptoms associated with a life event.|NCI|N|
C0001576|Diseases of the uterine appendages (ADNEXA UTERI) including diseases involving the OVARY, the FALLOPIAN TUBES, and ligaments of the uterus (BROAD LIGAMENT; ROUND LIGAMENT).|MSH|N|
C0001577|Inflammation of the appendages of the uterus.|NCI|N|
C0001614|A disease involving the adrenal cortex.|MONDO|N|
C0001618|The presence of a neoplasm of the adrenal cortex.|HPO|N|
C0001621|Any disease affecting the adrenal gland.|NCI|N|
C0001622|Abnormally high level of cortisol in the blood.|NCI|N|
C0001623|Insufficient production of steroid hormones (primarily cortisol) by the adrenal glands.|HPO|N|
C0001624|A tumor (abnormal growth of tissue) of the adrenal gland.|HPO|N|
C0001627|A type of adrenal hyperplasia with congenital onset.|HPO|N|
C0001630|A benign, testicular or ovarian tumor, derived from adrenal embryonic rest cells. It is composed of hyperplastic adrenal cortical tissue, and it is associated with congenital adrenal hyperplasia.|NCI|N|
C0001707|Spasmodic swallowing of air.|MSH|N|
C0001714|The sulfate salt form of polymyxin B, a mixture of the polypeptides polymyxins B1 and B2, both obtained from Bacillus polymyxa strains, with antimicrobial activity. Polymyxin B exerts its antimicrobial effect through its cationic detergent action on cell membranes. Specifically, this antibiotic binds to the negatively charged site in the lipopolysaccharide layer of the bacterial cell membrane via electrostatic affinity with the positively charged amino groups in the cyclic peptide portion. Subsequently, the fatty acid portion of polymyxin B dissolves in the hydrophobic region of the bacterial cell membrane. This results in an alteration in cell membrane structure, disruption of cell wall integrity and an increase in permeability for water and molecules. This will eventually lead to bacterial cell death.|NCI|N|
C0001723|The manifestation of psychotic symptoms, such as hallucinations or delusions, in the presence of a mood disorder.|NCI|N|
C0001726|Mood or emotional responses dissonant with or inappropriate to the behavior and/or stimulus.|MSH|N|
C0001727|A complication of gastrojejunostomy (billroth II procedure), a reconstructive gastroenterostomy. It is caused by acute (complete) or chronic (intermittent) obstruction of the afferent jejunal loop due to hernia, intussusception, kinking, volvulus, etc. It is characterized by pain and vomiting of bile-stained fluid.|MONDO|N|
C0001733|Lack of detectable fibrinogen in the blood circulation.|HPO|N|
C0001748|An insect-borne reovirus infection of horses, mules and donkeys in Africa and the Middle East; characterized by pulmonary edema, cardiac involvement, and edema of the head and neck.|MSH|N|
C0001752|A sometimes fatal ASFIVIRUS infection of pigs, characterized by fever, cough, diarrhea, hemorrhagic lymph nodes, and edema of the gallbladder. It is transmitted between domestic swine by direct contact, ingestion of infected meat, or fomites, or mechanically by biting flies or soft ticks (genus Ornithodoros).|MSH|N|
C0001768|A lasting absence of total IgG and total IgA and total IgM in the blood circulation, whereby at most trace quantities can be measured.|HPO|N|
C0001801|The clumping together of suspended material resulting from the action of AGGLUTININS.|MSH|N|
C0001807|Behavior or an act aimed at harming a person, animal, or physical property (e.g., acts of physical violence; shouting, swearing, and using harsh language; slashing someone's tires).|HPO|N|
C0001811|Progressive damage to mitochondrial DNA (mtDNA) during life is thought to contribute to aging processes. This notion is supported by the observation of an aging-related accumulation in human mtDNA of oxidative and alkylation derivatives of nucleotides, of small deletions and insertions, and of large deletions, although their low frequency raises questions about their functional significance (Michikawa et al., 1999).|OMIM|N|
C0001815|Primary myelofibrosis is a condition characterized by the buildup of scar tissue (fibrosis) in the bone marrow, the tissue that produces blood cells. Because of the fibrosis, the bone marrow is unable to make enough normal blood cells. The shortage of blood cells causes many of the signs and symptoms of primary myelofibrosis.\n\nInitially, most people with primary myelofibrosis have no signs or symptoms. Eventually, fibrosis can lead to a reduction in the number of red blood cells, white blood cells, and platelets. A shortage of red blood cells (anemia) often causes extreme tiredness (fatigue) or shortness of breath. A loss of white blood cells can lead to an increased number of infections, and a reduction of platelets can cause easy bleeding or bruising.\n\nBecause blood cell formation (hematopoiesis) in the bone marrow is disrupted, other organs such as the spleen or liver may begin to produce blood cells. This process, called extramedullary hematopoiesis, often leads to an enlarged spleen (splenomegaly) or an enlarged liver (hepatomegaly). People with splenomegaly may feel pain or fullness in the abdomen, especially below the ribs on the left side. Other common signs and symptoms of primary myelofibrosis include fever, night sweats, and bone pain.\n\nPrimary myelofibrosis is most commonly diagnosed in people aged 50 to 80 but can occur at any age.|MedlinePlus Genetics|N|
C0001816|Alteration or impairment in the processing or interpretation of sensory information can lead to abnormal perceptions or experiences.|HPO|N|
C0001818|A type of anxiety disorder characterized by the avoidance of public places, especially where crowds gather.|HPO|N|
C0001819|An anxiety disorder characterized by agoraphobia in the absence of a history of panic attacks; the individual fears incapacitation or humiliation in open, public places or situations due to panic-like symptoms rather than a full-blown panic attack.|NCI|N|
C0001824|Marked decrease in the number of granulocytes.|HPO|N|
C0001825|Loss of the ability to write as a result of neurological damage or disorder in someone who previously had this ability and is inconsistent with current level of intellectual functioning.|SNOMEDCT_US|N|
C0001828|Diseases in persons engaged in cultivating and tilling soil, growing plants, harvesting crops, raising livestock, or otherwise engaged in husbandry and farming. The diseases are not restricted to farmers in the sense of those who perform conventional farm chores: the heading applies also to those engaged in the individual activities named above, as in those only gathering harvest or in those only dusting crops.|MSH|N|
C0001849|Dementia resulting from AIDS.|NCI|N|
C0001857|A prodromal phase of infection with the human immunodeficiency virus (HIV). Laboratory criteria separating aids-related complex (ARC) from aids include elevated or hyperactive B-cell humoral immune responses, compared to depressed or normal antibody reactivity in aids; follicular or mixed hyperplasia in arc lymph nodes, leading to lymphocyte degeneration and depletion more typical of aids; evolving succession of histopathological lesions such as localization of Kaposi's sarcoma, signaling the transition to the full-blown aids.|MONDO|N|
C0001860|Development of a fibrotic constriction ring involving the base of one or more toes, conditioning eversion and absorption of distal structures, possibly progressing to spontaneous amputation.|HPO|N|
C0001882|A sensation of discomfort associated with air travel that may include nausea, vomiting, dizziness, or sweating.|NCI|N|
C0001883|Obstruction of conducting airways of the lung.|HPO|N|
C0001889|Akinetic mutism is essentially characterized by a total absence of spontaneous behavior and speech occurring in the presence of preserved visual tracking.|HPO|N|
C0001906|A orthopoxvirus that causes a milder clinical syndrome than smallpox.|NCI|N|
C0001916|An abnormal reduction in the amount of pigmentation (reduced or absent) of skin, hair and eye (iris and retina).|HPO|N|
C0001925|Increased concentration of albumin in the urine.|HPO|N|
C0001940|A mental disorder associated with chronic ethanol abuse (ALCOHOLISM) and nutritional deficiencies characterized by short term memory loss, confabulations, and disturbances of attention. (Adams et al., Principles of Neurology, 6th ed, p1139)|MONDO|N|
C0001956|What is alcohol use disorder (AUD)? For most adults, moderate alcohol use is probably not harmful. However, about 18 million adult Americans have an alcohol use disorder (AUD). This means that their drinking causes distress and harm. AUD can range from mild to severe, depending on the symptoms. Severe AUD is sometimes called alcoholism or alcohol dependence.CHAR(13) AUD is a disease that causes:CHAR(13) 	-Craving - a strong need to drink. CHAR(13) 	-Loss of control - not being able to stop drinking once you''ve started. CHAR(13) 	-Negative emotional state - feeling anxious and irritable when you are not drinking. CHAR(13)  What is binge drinking? Binge drinking is drinking so much at once that your blood alcohol concentration (BAC) level is 0.08% or more. For a man, this usually happens after having 5 or more drinks within a few hours. For a woman, it is after about 4 or more drinks within a few hours. Not everyone who binge drinks has an AUD, but they are at higher risk for getting one.CHAR(13) What are the dangers of too much alcohol? Too much alcohol is dangerous. Heavy drinking can increase the risk of certain cancers. It may lead to liver diseases, such as fatty liver disease and cirrhosis. It can also cause damage to the brain and other organs. Drinking during pregnancy can harm your baby. Alcohol also increases the risk of death from car crashes, injuries, homicide, and suicide.CHAR(13) How do I know if I have an alcohol use disorder (AUD)? You may have an AUD if you can answer yes to two or more of these questions:CHAR(13) In the past year, have you:CHAR(13) 	-Ended up drinking more or for a longer time than you had planned to?. CHAR(13) 	-Wanted to cut down or stop drinking, or tried to, but couldn''t?. CHAR(13) 	-Spent a lot of your time drinking or recovering from drinking?. CHAR(13) 	-Felt a strong need to drink?. CHAR(13) 	-Found that drinking - or being sick from drinking - often interfered with your family life, job, or school?. CHAR(13) 	-Kept drinking even though it was causing trouble with your family or friends?. CHAR(13) 	-Given up or cut back on activities that you enjoyed just so you could drink?. CHAR(13) 	-Gotten into dangerous situations while drinking or after drinking? Some examples are driving drunk and having unsafe sex. CHAR(13) 	-Kept drinking even though it was making you feel depressed or anxious? Or when it was adding to another health problem?. CHAR(13) 	-Had to drink more and more to feel the effects of the alcohol?. CHAR(13) 	-Had withdrawal symptoms when the alcohol was wearing off? They include trouble sleeping, shakiness, irritability, anxiety, depression, restlessness, nausea, and sweating. In severe cases, you could have a fever, seizures, or hallucinations. CHAR(13)  If you have any of these symptoms, your drinking may already be a cause for concern. The more symptoms you have, the more serious the problem is.CHAR(13) What should I do if I think that I might have an alcohol use disorder (AUD)? If you think you might have an AUD, see your health care provider for an evaluation. Your provider can help make a treatment plan, prescribe medicines, and if needed, give you treatment referrals.CHAR(13) NIH: National Institute on Alcohol Abuse and AlcoholismCHAR(13)|MEDLINEPLUS|N|
C0001957|An acute organic mental disorder induced by cessation or reduction in chronic alcohol consumption. Clinical characteristics include confusion; delusions; vivid hallucinations; tremor; agitation; insomnia; and signs of autonomic hyperactivity (e.g., elevated blood pressure and heart rate, dilated pupils, and diaphoresis). This condition may occasionally be fatal. It was formerly called delirium tremens. (From Adams et al., Principles of Neurology, 6th ed, p1175)|MONDO|N|
C0001969|Disturbances in psychophysiological functions and responses as a result of consumption of a beverage containing ethanol.|NCI|N|
C0001973|Alcohol use disorder is a diagnosis made when an individual has severe problems related to drinking alcohol. Alcohol use disorder can cause major health, social, and economic problems, and can endanger affected individuals and others through behaviors prompted by impaired decision-making and lowered inhibitions, such as aggression, unprotected sex, or driving while intoxicated.\n\nAlcohol use disorder is a broad diagnosis that encompasses several commonly used terms describing problems with drinking. It includes alcoholism, also called alcohol addiction, which is a long-lasting (chronic) condition characterized by a powerful, compulsive urge to drink alcohol and the inability to stop drinking after starting. In addition to alcoholism, alcohol use disorder includes alcohol abuse, which involves problem drinking without addiction.\n\nHabitual excessive use of alcohol changes the chemistry of the brain and leads to tolerance, which means that over time the amount of alcohol ingested needs to be increased to achieve the same effect. Long-term excessive use of alcohol may also produce dependence, which means that when people stop drinking, they have physical and psychological symptoms of withdrawal, such as sleep problems, irritability, jumpiness, shakiness, restlessness, headache, nausea, sweating, anxiety, and depression. In severe cases, agitation, fever, seizures, and hallucinations can occur; this pattern of severe withdrawal symptoms is called delirium tremens.\n\nThe heavy drinking that often occurs in alcohol use disorder, and can also occur in short-term episodes called binge drinking, can lead to a life-threatening overdose known as alcohol poisoning. Alcohol poisoning occurs when a large quantity of alcohol consumed over a short time causes problems with breathing, heart rate, body temperature, and the gag reflex. Signs and symptoms can include vomiting, choking, confusion, slow or irregular breathing, pale or blue-tinged skin, seizures, a low body temperature, a toxic buildup of substances called ketones in the blood (alcoholic ketoacidosis), and passing out (unconsciousness). Coma, brain damage, and death can occur if alcohol poisoning is not treated immediately.\n\nChronic heavy alcohol use can also cause long-term problems affecting many organs and systems of the body. These health problems include irreversible liver disease (cirrhosis), inflammation of the pancreas (pancreatitis), brain dysfunction (encephalopathy), nerve damage (neuropathy), high blood pressure (hypertension), stroke, weakening of the heart muscle (cardiomyopathy), irregular heartbeats (arrhythmia), and immune system problems. Long-term overuse of alcohol also increases the risk of certain cancers, including cancers of the mouth, throat, esophagus, liver, and breast. Alcohol use in pregnant women can cause birth defects and fetal alcohol syndrome, which can lead to lifelong physical and behavioral problems in the affected child.|MedlinePlus Genetics|N|
C0002016|A slow progressive disease of mink caused by the aleutian mink disease virus. It is characterized by poor reproduction, weight loss, autoimmunity, hypergammaglobulinemia, increased susceptibility to bacterial infections, and death from renal failure. The disease occurs in all color types, but mink which are homozygous recessive for the Aleutian gene for light coat color are particularly susceptible.|MONDO|N|
C0002018|An acquired type of sensory aphasia where damage to the brain leads to the loss of the ability to read.|HPO|N|
C0002020|A deficit in emotional awareness is characterized by difficulties in recognizing and expressing feelings and emotions. This deficit manifests as a limited ability to respond to facial cues or other signs of emotions in others, often accompanied by detached connections to others.|HPO|N|
C0002063|Depletion of acid or accumulation base in the body fluids.|HPO|N|
C0002064|Alkalosis due to excess loss of carbon dioxide from the body.|HPO|N|
C0002066|Alkaptonuria is caused by deficiency of homogentisate 1,2-dioxygenase, an enzyme that converts homogentisic acid (HGA) to maleylacetoacetic acid in the tyrosine degradation pathway. The three major features of alkaptonuria are dark urine or urine that turns dark on standing, ochronosis (bluish-black pigmentation in connective tissue), and arthritis of the spine and larger joints. Ochronosis generally occurs after age 30 years; arthritis often begins in the third decade. Other manifestations can include pigment in the sclera, ear cartilage, and skin of the hands; aortic or mitral valve calcification or regurgitation and occasionally aortic dilatation; renal stones; prostate stones; and hypothyroidism.|GeneReviews|N|
C0002103|Allergic rhinitis with a positive skin prick test (SPT equal or greater than 3 mm) to any allergen.|NCI|N|
C0002145|The modification of the reactivity of ENZYMES by the binding of effectors to sites (ALLOSTERIC SITES) on the enzymes other than the substrate BINDING SITES.|MSH|N|
C0002170|A noncongenital process of hair loss, which may progress to partial or complete baldness.|HPO|N|
C0002171|Loss of scalp and body hair involving microscopically inflammatory patchy areas.|MONDO|N|
C0002173|A rare dermatologic disorder characterized by the accumulation of mucinous material in the hair follicles. In some cases it is associated with lymphoproliferative disorders, most often mycosis fungoides and Hodgkin lymphoma.|NCI|N|
C0002312|Alpha-thalassemia (a-thalassemia) has two clinically significant forms: hemoglobin Bart hydrops fetalis (Hb Bart) syndrome (caused by deletion/inactivation of all four a-globin genes; --/--), and hemoglobin H (HbH) disease (most frequently caused by deletion/inactivation of three a-globin genes; --/-a). Hb Bart syndrome, the more severe form, is characterized by prenatal onset of generalized edema and pleural and pericardial effusions as a result of congestive heart failure induced by severe anemia. Extramedullary erythropoiesis, marked hepatosplenomegaly, and a massive placenta are common. Death usually occurs in the neonatal period. HbH disease has a broad phenotypic spectrum: although clinical features usually develop in the first years of life, HbH disease may not present until adulthood or may be diagnosed only during routine hematologic analysis in an asymptomatic individual. The majority of individuals have enlargement of the spleen (and less commonly of the liver), mild jaundice, and sometimes thalassemia-like bone changes. Individuals with HbH disease may develop gallstones and experience acute episodes of hemolysis in response to infections or exposure to oxidant drugs.|GeneReviews|N|
C0002351|Multiple symptoms associated with reduced oxygen at high altitude.|MONDO|N|
C0002382|Resorption or wasting of the tooth-supporting bone (ALVEOLAR PROCESS) in the MAXILLA or MANDIBLE.|MSH|N|
C0002390|Hypersensitivity pneumonitis involves inhalation of an antigen. This leads to an exaggerated immune response and a following inflammation of the alveoli within the lungs. The main feature of chronic hypersensitivity pneumonitis on lung biopsies is expansion of the interstitium by lymphocytes accompanied by an occasional multinucleated giant cell or loose granuloma. After exposure to the provoking antigen, following symptoms can be seen|HPO|N|
C0002395|Alzheimer's disease is a degenerative disease of the brain that causes dementia, which is a gradual loss of memory, judgment, and ability to function. This disorder usually appears in people older than age 65, but less common forms of the disease appear earlier in adulthood.\n\nMemory loss is the most common sign of Alzheimer's disease. Forgetfulness may be subtle at first, but the loss of memory worsens over time until it interferes with most aspects of daily living. Even in familiar settings, a person with Alzheimer's disease may get lost or become confused. Routine tasks such as preparing meals, doing laundry, and performing other household chores can be challenging. Additionally, it may become difficult to recognize people and name objects. Affected people increasingly require help with dressing, eating, and personal care.\n\nAs the disorder progresses, some people with Alzheimer's disease experience personality and behavioral changes and have trouble interacting in a socially appropriate manner. Other common symptoms include agitation, restlessness, withdrawal, and loss of language skills. People with Alzheimer's disease usually require total care during the advanced stages of the disease.\n\nIndividuals with Alzheimer's disease usually survive 8 to 10 years after the appearance of symptoms, but the course of the disease can range from 1 to 25 years. Survival is usually shorter in individuals diagnosed after age 80 than in those diagnosed at a younger age. In Alzheimer's disease, death usually results from pneumonia, malnutrition, or general body wasting (inanition).\n\nAlzheimer's disease can be classified as early-onset or late-onset. The signs and symptoms of the early-onset form appear between a person's thirties and mid-sixties, while the late-onset form appears during or after a person's mid-sixties. The early-onset form of Alzheimer's disease is much less common than the late-onset form, accounting for less than 10 percent of all cases of Alzheimer's disease.|MedlinePlus Genetics|N|
C0002418|Reduced visual acuity that is uncorrectable by lenses in the absence of detectable anatomic defects in the eye or visual pathways.|HPO|N|
C0002438|A parasitic infection of the colon by Entamoeba histolytica. Signs and symptoms include cramping, diarrhea, bloody stools and fever. It can be treated with antibiotics.|NCI|N|
C0002447|Congenital absence (aplasia) of one or more limbs.|HPO|N|
C0002448|Ameloblastoma is a benign odontogenic tumor generally present in the jaw bone. The tumor originates from the residual epithelium of the tooth germ, epithelium of odontogenic cysts stratified squamous epithelium and epithelium of the enamel organ.|HPO|N|
C0002452|A developmental dysplasia of the dental enamel.|HPO|N|
C0002453|Absence of menses for an interval of time equivalent to a total of more than (or equal to) 3 previous cycles or 6 months.|HPO|N|
C0002511|A reaction that produces an ""activated"" amino acid derivative, such as amino acyl adenylate, or amino acylphosphorylate and provides energy for the amino acid to be incorporated into a peptide, protein, or other macromolecule.|MSH|N|
C0002514|An inherited disorder that affects the metabolism of the amino acids. Representative examples include alkaptonuria, homocystinuria, tyrosinemia, and phenylketonuria.|NCI|N|
C0002534|A group of inherited kidney disorders characterized by the abnormally elevated levels of amino acids in urine. Genetic mutations of transport proteins result in the defective reabsorption of free amino acids at the proximal renal tubules. Renal aminoaciduria are classified by the specific amino acid or acids involved.|MONDO|N|
C0002622|Systematic and extensive loss of memory caused by organic or psychological factors. The loss may be temporary or permanent, and may involve old or recent memories.|NCI|N|
C0002624|Inability to retrieve information from the long-term memory that was acquired before the onset of amnesia.|HPO|N|
C0002625|Systematic and extensive loss of memory caused by organic or psychological factors. The loss may be temporary or permanent, and may involve old or recent memories.|MONDO|N|
C0002631|Inflammation of the amnion.|NCI|N|
C0002636|Disorder with an extremely variable clinical presentation characterised by the presence of partial to complete, congenital, fibrous, circumferential, constriction bands/rings on any part of the body, although a particular predilection for the upper or lower extremities is seen. Phenotypes range from only a mild skin indentation to complete amputation of parts of the fetus (for example digits, distal limb). Compression from the rings may lead to oedema, skeletal anomalies (for example fractures, foot deformities) and infrequently neural compromise.|SNOMEDCT_US|N|
C0002682|Nonsusceptibility of a microbe to the action of ampicillin, a penicillin derivative that interferes with cell wall synthesis.|MSH|N|
C0002726|The presence of amyloid deposition in one or more tissues. Amyloidosis may be defined as the extracellular deposition of amyloid in one or more sites of the body.|HPO|N|
C0002735|congenital atonic pseudoparalysis observed especially in infants and characterized by absence of muscular tone only in muscles innervated by the spinal nerves; also known as Oppenheim''s disease or syndrome or congenital atonic pseudoparalysis.|CSP|N|
C0002736|Amyotrophic lateral sclerosis (ALS) is a progressive disease that affects motor neurons, which are specialized nerve cells that control muscle movement. These nerve cells are found in the spinal cord and the brain. In ALS, motor neurons die (atrophy) over time, leading to muscle weakness, a loss of muscle mass, and an inability to control movement.\n\nThere are many different types of ALS; these types are distinguished by their signs and symptoms and their genetic cause or lack of clear genetic association. Most people with ALS have a form of the condition that is described as sporadic, which means it occurs in people with no apparent history of the disorder in their family. People with sporadic ALS usually first develop features of the condition in their late fifties or early sixties. A small proportion of people with ALS, estimated at 5 to 10 percent, have a family history of ALS or a related condition called frontotemporal dementia (FTD), which is a progressive brain disorder that affects personality, behavior, and language. The signs and symptoms of familial ALS typically first appear in one's late forties or early fifties. Rarely, people with familial ALS develop symptoms in childhood or their teenage years. These individuals have a rare form of the disorder known as juvenile ALS.\n\nThe first signs and symptoms of ALS may be so subtle that they are overlooked. The earliest symptoms include muscle twitching, cramping, stiffness, or weakness. Affected individuals may develop slurred speech (dysarthria) and, later, difficulty chewing or swallowing (dysphagia). Many people with ALS experience malnutrition because of reduced food intake due to dysphagia and an increase in their body's energy demands (metabolism) due to prolonged illness. Muscles become weaker as the disease progresses, and arms and legs begin to look thinner as muscle tissue atrophies. Individuals with ALS eventually lose muscle strength and the ability to walk. Affected individuals eventually become wheelchair-dependent and increasingly require help with personal care and other activities of daily living. Over time, muscle weakness causes affected individuals to lose the use of their hands and arms. Breathing becomes difficult because the muscles of the respiratory system weaken. Most people with ALS die from respiratory failure within 2 to 10 years after the signs and symptoms of ALS first appear; however, disease progression varies widely among affected individuals.\n\nApproximately 20 percent of individuals with ALS also develop FTD. Changes in personality and behavior may make it difficult for affected individuals to interact with others in a socially appropriate manner. Communication skills worsen as the disease progresses. It is unclear how the development of ALS and FTD are related. Individuals who develop both conditions are diagnosed as having ALS-FTD.\n\nA rare form of ALS that often runs in families is known as ALS-parkinsonism-dementia complex (ALS-PDC). This disorder is characterized by the signs and symptoms of ALS, in addition to a pattern of movement abnormalities known as parkinsonism, and a progressive loss of intellectual function (dementia). Signs of parkinsonism include unusually slow movements (bradykinesia), stiffness, and tremors. Affected members of the same family can have different combinations of signs and symptoms.|MedlinePlus Genetics|N|
C0002757|Tumors or cancer of the anal gland.|MONDO|N|
C0002768|A syndrome characterized by indifference to PAIN despite the ability to distinguish noxious from non-noxious stimuli. Absent corneal reflexes and INTELLECTUAL DISABILITY may be associated. Familial forms with autosomal recessive and autosomal dominant patterns of inheritance have been described. (Adams et al., Principles of Neurology, 6th ed, p1343)|MSH|N|
C0002792|An acute hypersensitive immune response that occurs from exposure to an allergen. It results from the release of histamine and histamine-like substances from mast cells, and can present with breathing difficulty due to narrowed airways, dizziness and hypotension, skin rash, weak pulse, nausea and vomiting.|NCI|N|
C0002793|A morphologic finding indicating the presence of a malignant cellular infiltrate characterized by the presence of large pleomorphic cells, necrosis, and high mitotic activity in a tissue sample.|NCI|N|
C0002796|Infections with bacteria of the family ANAPLASMATACEAE.|MSH|N|
C0002797|An infection that is caused by Anaplasma phagocytophilum, which is transmitted to humans by infected ticks; it is characterized by fever, headache, chills, and myalgia.|NCI|N|
C0002831|A hookworm infection caused primarily by the species <i>Ancylostoma duodenale </i> or <i>Necator americanus</i>, usually acquired through penetration of the skin, (often asymptomatic but that can also manifest with an allergic reaction at the site of skin penetration), followed by the migration of larva through the bloodstream to the lungs (causing asymptomatic pneumonitis, eosinophilia) and finally reaching and colonizing the small intestines where they cause blood extravasation leading to diarrhea, abdominal pain, and when untreated, melena, iron-deficiency anemia and protein malnutrition.|ORDO|N|
C0002871|A reduction in erythrocytes volume or hemoglobin concentration.|HPO|N|
C0002873|Anemia due to a disorder that is persistent or long-standing in nature.|NCI|N|
C0002874|Aplastic anemia is a serious disorder of the bone marrow that affects between 2 and 5 persons per million per year. About 75% of these cases are classified as idiopathic (Young, 2000). In about 15% of cases a drug or infection can be identified that precipitates the aplasia, although why only some individuals are susceptible is unclear. In about 5 to 10% of patients, the aplastic anemia is constitutional--i.e., is familial or presents with one or more associated somatic abnormalities (summary by Vulliamy et al., 2002).|OMIM|N|
C0002875|Beta-thalassemia (BT) major is a severe early-onset form of BT (see this term) characterized by severe anemia requiring regular red blood cell transfusions.|ORDO|N|
C0002876|Congenital dyserythropoietic anemia (CDA) is an inherited blood disorder that affects the development of red blood cells. This disorder is one of many types of anemia, which is a condition characterized by a shortage of red blood cells. This shortage prevents the blood from carrying an adequate supply of oxygen to the body's tissues. The resulting symptoms can include tiredness (fatigue), weakness, pale skin, and other complications.\n\nResearchers have identified three major types of CDA: type I, type II, and type III. The types have different genetic causes and different but overlapping patterns of signs and symptoms.\n\nCDA type I is characterized by moderate to severe anemia. It is usually diagnosed in childhood or adolescence, although in some cases, the condition can be detected before birth. Many affected individuals have yellowing of the skin and eyes (jaundice) and an enlarged liver and spleen (hepatosplenomegaly). This condition also causes the body to absorb too much iron, which builds up and can damage tissues and organs. In particular, iron overload can lead to an abnormal heart rhythm (arrhythmia), congestive heart failure, diabetes, and chronic liver disease (cirrhosis). Rarely, people with CDA type I are born with skeletal abnormalities, most often involving the fingers and/or toes.\n\nThe anemia associated with CDA type II can range from mild to severe, and most affected individuals have jaundice, hepatosplenomegaly, and the formation of hard deposits in the gallbladder called gallstones. This form of the disorder is usually diagnosed in adolescence or early adulthood. An abnormal buildup of iron typically occurs after age 20, leading to complications including heart disease, diabetes, and cirrhosis.\n\nThe signs and symptoms of CDA type III tend to be milder than those of the other types. Most affected individuals do not have hepatosplenomegaly, and iron does not build up in tissues and organs. In adulthood, abnormalities of a specialized tissue at the back of the eye (the retina) can cause vision impairment. Some people with CDA type III also have a blood disorder known as monoclonal gammopathy, which can lead to a cancer of white blood cells (multiple myeloma).\n\nSeveral other variants of CDA have been described, although they appear to be rare and not much is known about them. Once researchers discover the genetic causes of these variants, some of them may be grouped with the three major types of CDA.|MedlinePlus Genetics|N|
C0002878|A type of anemia caused by premature destruction of red blood cells (hemolysis).|HPO|N|
C0002879|Hemolytic anemia, the cause of which is not present at birth.|NCI|N|
C0002880|An autoimmune form of hemolytic anemia.|HPO|N|
C0002881|A form of hemolytic anemia with congenital onset.|HPO|N|
C0002882|Any one of a group of congenital hemolytic anemias in which there is no abnormal hemoglobin or spherocytosis and in which there is a defect of glycolysis in the erythrocyte. Common causes include deficiencies in glucose-6-phosphate isomerase; pyruvate kinase; and glucose-6-phosphate dehydrogenase.|MONDO|N|
C0002884|A type of anemia characterized by an abnormally low concentration of hemoglobin in the erythrocytes.|HPO|N|
C0002886|A type of anemia characterized by increased size of erythrocytes with increased mean corpuscular volume (MCV) and increased mean corpuscular hemoglobin (MCH).|HPO|N|
C0002888|Anemia characterized by the presence of erythroblasts that are larger than normal (megaloblasts).|HPO|N|
C0002890|A laboratory test result indicating an abnormal amount of circulating nucleated red blood cells and immature red blood cells.|MONDO|N|
C0002891|The mildest form of erythroblastosis fetalis in which anemia is the chief manifestation.|MONDO|N|
C0002892|Megaloblastic anemia caused by vitamin B-12 deficiency due to impaired absorption. The impaired absorption of vitamin B-12 is secondary to atrophic gastritis and loss of gastric parietal cells.|NCI|N|
C0002893|A myelodysplastic syndrome characterized mainly by dysplasia of the erythroid series. Refractory anemia is uncommon. It is primarily a disease of older adults. The median survival exceeds 5 years. (WHO, 2001)|NCI|N|
C0002894|Refractory anemia with excess blasts (RAEB) is a frequent severe subtype of myelodysplastic syndrome (MDS; see this term) characterized by cytopenias with unilineage or multilineage dysplasia and 5% to 19% blasts in bone marrow or blood.|ORDO|N|
C0002895|Sickle cell disease (SCD) is characterized by intermittent vaso-occlusive events and chronic hemolytic anemia. Vaso-occlusive events result in tissue ischemia leading to acute and chronic pain as well as organ damage that can affect any organ system, including the bones, spleen, liver, brain, lungs, kidneys, and joints. Dactylitis (pain and/or swelling of the hands or feet) is often the earliest manifestation of SCD. In children, the spleen can become engorged with blood cells in a "splenic sequestration." The spleen is particularly vulnerable to infarction and the majority of individuals with SCD who are not on hydroxyurea or transfusion therapy become functionally asplenic in early childhood, increasing their risk for certain types of bacterial infections, primarily encapsulated organisms. Acute chest syndrome (ACS) is a major cause of mortality in SCD. Chronic hemolysis can result in varying degrees of anemia, jaundice, cholelithiasis, and delayed growth and sexual maturation as well as activating pathways that contribute to the pathophysiology directly. Individuals with the highest rates of hemolysis are at higher risk for pulmonary artery hypertension, priapism, and leg ulcers and may be relatively protected from vaso-occlusive pain.|GeneReviews|N|
C0002896|Sideroblastic anemia results from a defect in the incorporation of iron into the heme molecule. A sideroblast is an erythroblast that has stainable deposits of iron in cytoplasm (this can be demonstrated by Prussian blue staining).|HPO|N|
C0002899|Anemia resulting from an abnormality of glutathione deficiency.|NCI|N|
C0002902|Because these nervous system abnormalities are so severe, almost all babies with anencephaly die before birth or within a few hours or days after birth.\n\nAnencephaly is a condition that prevents the normal development of the brain and the bones of the skull. This condition results when a structure called the neural tube fails to close during the first few weeks of embryonic development. The neural tube is a layer of cells that ultimately develops into the brain and spinal cord. Because anencephaly is caused by abnormalities of the neural tube, it is classified as a neural tube defect.\n\nBecause the neural tube fails to close properly, the developing brain and spinal cord are exposed to the amniotic fluid that surrounds the fetus in the womb. This exposure causes the nervous system tissue to break down (degenerate). As a result, people with anencephaly are missing large parts of the brain called the cerebrum and cerebellum. These brain regions are necessary for thinking, hearing, vision, emotion, and coordinating movement. The bones of the skull are also missing or incompletely formed.|MedlinePlus Genetics|N|
C0002938|A chromosomal abnormality in which there is an addition or loss of chromosomes within a set (e.g., 23 + 22 or 23 + 24).|NCI|N|
C0002940|Abnormal outpouching or sac-like dilatation in the wall of an atery, vein or the heart.|HPO|N|
C0002949|A separation (dissection) of the layers of an artery.|HPO|N|
C0002950|Aneurysm due to growth of microorganisms in the arterial wall, or infection arising within preexisting arteriosclerotic aneurysms.|MSH|N|
C0002959|Dilatation of the blood vessels.|NCI|N|
C0002962|Paroxysmal chest pain that occurs with exertion or stress and is related to myocardial ischemia.|HPO|N|
C0002963|A variant form of angina pectoris caused by coronary artery vasospasm, usually occurring spontaneously and frequently associated with ST segment elevation.|NCI|N|
C0002965|Angina pectoris (or equivalent type of ischemic discomfort) which has recently changed in frequency, duration, intensity, or occurs at rest.|NCI|N|
C0002982|Angioid streaks are irregular tapering linear breaks in the Bruch membrane that typically emanate from the optic disk (summary by Karacorlu et al., 2002).|OMIM|N|
C0002983|A angioid streaks that involves the optic choroid.|MONDO|N|
C0002985|Angiokeratomas are hyperkeratotic papules that are characterized histologically by superficial ectatic (i.e., dilated) blood vessels with epidermal proliferation. Clinically, angiokeratoma presents as a small, raised, dark-red spot.|HPO|N|
C0002986|Fabry disease is the most common of the lysosomal storage disorders and results from deficient activity of the enzyme alpha-galactosidase A (a-Gal A), leading to progressive lysosomal deposition of globotriaosylceramide and its derivatives in cells throughout the body. The classic form, occurring in males with less than 1% a-Gal A enzyme activity, usually has its onset in childhood or adolescence with periodic crises of severe pain in the extremities (acroparesthesia), the appearance of vascular cutaneous lesions (angiokeratomas), sweating abnormalities (anhidrosis, hypohidrosis, and rarely hyperhidrosis), characteristic corneal and lenticular opacities, and proteinuria. Gradual deterioration of renal function to end-stage renal disease (ESRD) usually occurs in men in the third to fifth decade. In middle age, most males successfully treated for ESRD develop cardiac and/or cerebrovascular disease, a major cause of morbidity and mortality. Heterozygous females typically have milder symptoms at a later age of onset than males. Rarely, females may be relatively asymptomatic throughout a normal life span or may have symptoms as severe as those observed in males with the classic phenotype. In contrast, late-onset forms occur in males with greater than 1% a-Gal A activity. Clinical manifestations include cardiac disease, which usually presents in the sixth to eighth decade with left ventricular hypertrophy, cardiomyopathy, arrhythmia, and proteinuria; renal failure, associated with ESRD but without the skin lesions or pain; or cerebrovascular disease presenting as stroke or transient ischemic attack.|GeneReviews|N|
C0002989|A hemangioma arising from the skin. It is characterized by the presence of epithelioid endothelial cells.|NCI|N|
C0002991|A solitary, slowly growing, nodular tumor most often affecting the extremities. It is composed of fibrous and histiocytic cells which infiltrate the dermis and occasionally the underlying subcutaneous tissue. Usually local excision is curative. Recurrences are reported only in a small minority of cases.|NCI|N|
C0002992|A benign diffuse vascular proliferation usually occurring in young adults. It is characterized by the formation of capillary-sized and cavernous vascular spaces. Patients present with diffuse persistent swelling.|NCI|N|
C0002994|Rapid swelling (edema) of the dermis, subcutaneous tissue, mucosa and submucosal tissues of the skin of the face, normally around the mouth, and the mucosa of the mouth and/or throat, as well as the tongue during a period of minutes to several hours. The swelling can also occur elsewhere, typically in the hands. Angioedema is similar to urticaria, but the swelling is subcutaneous rather than on the epidermis.|HPO|N|
C0003028|Inability to sweat.|HPO|N|
C0003047|Diseases that occur in VERTEBRATE animals.|MSH|N|
C0003076|PAX6-related aniridia occurs either as an isolated ocular abnormality or as part of the Wilms tumor-aniridia-genital anomalies-retardation (WAGR) syndrome. Aniridia is a pan ocular disorder affecting the cornea, iris, intraocular pressure (resulting in glaucoma), lens (cataract and lens subluxation), fovea (foveal hypoplasia), and optic nerve (optic nerve coloboma and hypoplasia). Individuals with aniridia characteristically show nystagmus and impaired visual acuity (usually 20/100 - 20/200); however, milder forms of aniridia with subtle iris architecture changes, good vision, and normal foveal structure do occur. Other ocular involvement may include strabismus and occasionally microphthalmia. Although the severity of aniridia can vary between and within families, little variability is usually observed in the two eyes of an affected individual. WAGR syndrome. The risk for Wilms tumor is 42.5%-77%; of those who develop Wilms tumor, 90% do so by age four years and 98% by age seven years. Genital anomalies in males can include cryptorchidism and hypospadias (sometimes resulting in ambiguous genitalia), urethral strictures, ureteric abnormalities, and gonadoblastoma. While females typically have normal external genitalia, they may have uterine abnormalities and streak ovaries. Intellectual disability (defined as IQ <74) is observed in 70%; behavioral abnormalities include attention-deficit/hyperactivity disorder (ADHD), autism spectrum disorder, anxiety, depression, and obsessive-compulsive disorder. Other individuals with WAGR syndrome can have normal intellect without behavioral problems.|GeneReviews|N|
C0003078|A condition in which the ocular image of an object as seen by one eye differs in size and shape from that seen by the other.|MONDO|N|
C0003079|Anisocoria, or unequal pupil size, may represent a benign physiologic variant or a manifestation of disease.|HPO|N|
C0003081|Inequality of refractive power of the two eyes.|HPO|N|
C0003090|A reduction of joint mobility resulting from changes involving the articular surfaces.|HPO|N|
C0003113|An inability to name people and objects that are correctly perceived. The individual is able to describe the object in question, but cannot provide the name.|HPO|N|
C0003119|Absence of the globe or eyeball.|HPO|N|
C0003123|Anorexia, or the loss of appetite for food, is a medical condition.|HPO|N|
C0003125|A disorder most often seen in adolescent females characterized by a refusal to maintain a minimally normal body weight, an intense fear of gaining weight, a disturbance in body image, and, in postmenarcheal females, the development of amenorrhea.|NCI|N|
C0003126|An inability to perceive odors. This is a general term describing inability to smell arising in any part of the process of smelling from absorption of odorants into the nasal mucous overlying the olfactory epithelium, diffusion to the cilia, binding to olfactory receptor sites, generation of action potentials in olfactory neurons, and perception of a smell.|HPO|N|
C0003128|The absence of ovulation.|NCI|N|
C0003130|Absence or reduction of oxygen in body tissue.|NCI|N|
C0003152|Rapid swelling, increased tension, pain, and ischemic necrosis of the muscles of the anterior tibial compartment of the leg, often following excessive physical exertion.|MONDO|N|
C0003164|Fibrosis of the lung parenchyma caused by inhalation of carbon and silica dust. It manifests as shortness of breath.|NCI|N|
C0003165|Anthracosis is the deposition of black carbon pigment. It is commonly seen in perihilar lymph nodes as well as within lung parenchyma. There can be prominent storiforming (i.e., spiral patterning) of histiocytes, to such an extent as to mimic a neoplastic lesion histologically. Anthracosis is a common finding in smokers and polluted city dwellers.|HPO|N|
C0003175|An infection caused by Bacillus anthracis bacteria. It may affect the lungs, gastrointestinal tract, or skin. Patients with lung infection present with fever, headaches, cough, chest pain and shortness of breath. Patients with gastrointestinal infection present with nausea, vomiting and bloody diarrhea. Patients with skin infection develop blisters and ulcers.|NCI|N|
C0003177|An anthrax disease that results in infection located in skin, has material basis in Bacillus anthracis, which is transmitted by contact with infected animals or animal products. The infection has symptom skin lesion that eventually forms an ulcer with a black center.|MONDO|N|
C0003255|A measure of the binding strength between antibody and a simple hapten or antigen determinant. It depends on the closeness of stereochemical fit between antibody combining sites and antigen determinants, on the size of the area of contact between them, and on the distribution of charged and hydrophobic groups. It includes the concept of ""avidity,"" which refers to the strength of the antigen-antibody bond after formation of reversible complexes.|MSH|N|
C0003259|The phenomenon of immense variability characteristic of ANTIBODIES. It enables the IMMUNE SYSTEM to react specifically against the essentially unlimited kinds of ANTIGENS it encounters. Antibody diversity is accounted for by three main theories: (1) the Germ Line Theory, which holds that each antibody-producing cell has genes coding for all possible antibody specificities, but expresses only the one stimulated by antigen; (2) the Somatic Mutation Theory, which holds that antibody-producing cells contain only a few genes, which produce antibody diversity by mutation; and (3) the Gene Rearrangement Theory, which holds that antibody diversity is generated by the rearrangement of IMMUNOGLOBULIN VARIABLE REGION gene segments during the differentiation of the ANTIBODY-PRODUCING CELLS.|MSH|N|
C0003264|The property of antibodies which enables them to react with some ANTIGENIC DETERMINANTS and not with others. Specificity is dependent on chemical composition, physical forces, and molecular structure at the binding site.|MSH|N|
C0003314|The processes triggered by interactions of ANTIBODIES with their ANTIGENS.|MSH|N|
C0003319|Change in the surface ANTIGEN of a microorganism. There are two different types. One is a phenomenon, especially associated with INFLUENZA VIRUSES, where they undergo spontaneous variation both as slow antigenic drift and sudden emergence of new strains (antigenic shift). The second type is when certain PARASITES, especially trypanosomes, PLASMODIUM, and BORRELIA, survive the immune response of the host by changing the surface coat (antigen switching). (From Herbert et al., The Dictionary of Immunology, 4th ed)|MSH|N|
C0003431|A disorder characterized by a pervasive pattern of disregard for and violation of the rights of others that is manifested in childhood or early adolescence. (adapted from DSM-IV)|NCI|N|
C0003460|Absence of urine, clinically classified as below 50ml/day.|HPO|N|
C0003462|A non-neoplastic or neoplastic disorder that affects the anal canal or anal margin. Representative examples of non-neoplastic disorders include hemorrhoids and anal ulcer. Representative examples of neoplastic disorders include carcinoma, lymphoma, and melanoma.|NCI|N|
C0003463|A benign or malignant neoplasm that affects the anal canal or anal margin.|HPO|N|
C0003466|Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract.|HPO|N|
C0003467|Intense feelings of nervousness, tension, or panic often arise in response to interpersonal stresses. There is worry about the negative effects of past unpleasant experiences and future negative possibilities. Individuals may feel fearful, apprehensive, or threatened by uncertainty, and they may also have fears of falling apart or losing control.|HPO|N|
C0003469|A category of psychiatric disorders which are characterized by anxious feelings or fear often accompanied by physical symptoms associated with anxiety.|NCI|N|
C0003476|Anxiety due to fantasized injuries to or loss of the genitals.|MSH|N|
C0003477|An anxiety disorder characterized by recurrent excessive distress due to fear of separation from the home or from major attachment figures; the distress is developmentally inappropriate and causes impairment in social, academic, or other areas of functioning.|NCI|N|
C0003486|Aortic dilatation refers to a dimension that is greater than the 95th percentile for the normal person age, sex and body size. In contrast, an aneurysm is defined as a localized dilation of the aorta that is more than 150 percent of predicted (ratio of observed to expected diameter 1.5 or more). Aneurysm should be distinguished from ectasia, which represents a diffuse dilation of the aorta less than 50 percent of normal aorta diameter.|HPO|N|
C0003490|A syndrome resulting from structural defects of the arteries that arise from the aortic arch. Signs and symptoms include weakness, dizziness, arm numbness, blurred vision and transient ischemic attacks.|NCI|N|
C0003492|Coarctation of the aorta is a narrowing or constriction of a segment of the aorta.|HPO|N|
C0003493|Pathology involving the thoracic, thoracoabdominal, or abdominal aorta (including aneurysms). (ACC)|NCI|N|
C0003496|Tearing of the aortic wall generally associated with profuse internal bleeding.|HPO|N|
C0003499|Supravalvular aortic stenosis (SVAS) is a heart defect that develops before birth. This defect is a narrowing (stenosis) of the large blood vessel that carries blood from the heart to the rest of the body (the aorta). The condition is described as supravalvular because the section of the aorta that is narrowed is located just above the valve that connects the aorta with the heart (the aortic valve). Some people with SVAS also have defects in other blood vessels, most commonly stenosis of the artery from the heart to the lungs (the pulmonary artery). An abnormal heart sound during a heartbeat (heart murmur) can often be heard during a chest exam. If SVAS is not treated, the aortic narrowing can lead to shortness of breath, chest pain, and ultimately heart failure.\n\nThe severity of SVAS varies considerably, even among family members. Some affected individuals die in infancy, while others never experience symptoms of the disorder.|MedlinePlus Genetics|N|
C0003504|An insufficiency of the aortic valve, leading to regurgitation (backward flow) of blood from the aorta into the left ventricle.|HPO|N|
C0003505|Aortic valve prolapse can be diagnosed when either or both of the right or non-coronary aortic valve cusps (seen in the cross sectional echocardiographic long axis view) show backward bowing towards the left ventricle beyond a line joining the points of attachment of the aortic valve leaflets to the annulus.|HPO|N|
C0003507|The presence of a stenosis (narrowing) of the aortic valve.|HPO|N|
C0003509|Inflammation of the aorta. Causes include trauma, infectious disorders, and connective tissue disorders.|NCI|N|
C0003511|Cardiovascular manifestations of syphilis, an infection of treponema pallidum. In the late stage of syphilis, sometimes 20-30 years after the initial infection, damages are often seen in the blood vessels including the aorta and the aortic valve. Clinical signs include syphilitic aortitis, aortic insufficiency, or aortic aneurysm.|MONDO|N|
C0003516|A congenital anomaly with an abnormal connection between the aorta and the main pulmonary artery resulting in an aortopulmonary shunt.|HPO|N|
C0003534|The absence of the crystalline lens of the eye.|NCI|N|
C0003537|An acquired language impairment of some or all of the abilities to produce or comprehend speech and to read or write.|HPO|N|
C0003550|Aphasia characterized by impairment of expressive language due to injury to the motor association cortex in the frontal lobe.|NCI|N|
C0003564|A term referring to the inability to speak. It may result from injuries to the vocal cords or may be functional (psychogenic).|NCI|N|
C0003578|Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event.|HPO|N|
C0003614|A benign or malignant neoplasm involving the appendix.|NCI|N|
C0003615|Appendicitis is inflammation of the vermiform appendix. Appendix a hollow organ located at the tip of the cecum, usually in the right lower quadrant of the abdomen.|HPO|N|
C0003635|A defect in the understanding of complex motor commands and in the execution of certain learned movements, i.e., deficits in the cognitive components of learned movements.|HPO|N|
C0003650|An endocrine tumor arising from an APUD cell.|HPO|N|
C0003706|Abnormally long and slender fingers ("spider fingers").|HPO|N|
C0003708|A chronic inflammation of the arachnoid layer of the meninges, of which adhesive arachnoiditis is the most severe form, characterized by debilitating, intractable neurogenic back and limb pain and a range of other neurological problems.|ORDO|N|
C0003721|A group of viral illnesses that are vectored by arthropods, and that are characterized by increased susceptibility to bleeding diatheses.|NCI|N|
C0003723|A viral infection that is transmitted by an arthropod.|NCI|N|
C0003742|A hazy, grayish-white ring about 2 mm in width located close to but separated from the limbus (the corneoscleral junction). Corneal arcus generally occurs bilaterally, and is related to lipid deposition in the cornea. Corneal arcus can occur in elderly persons as a part of the aging process but may be associated with hypercholesterolemia in people under the age of 50 years.|HPO|N|
C0003756|Virus diseases caused by the ARENAVIRIDAE.|MSH|N|
C0003803|Chiari malformation consists of a downward displacement of the cerebellar tonsils and the medulla through the foramen magnum, sometimes causing hydrocephalus as a result of obstruction of CSF outflow.|HPO|N|
C0003810|A benign or malignant sex cord-stromal tumor arising from the ovary. It is characterized by the presence of neoplastic Leydig cells. Signs and symptoms include hirsutism, menorrhagia and metrorrhagia. It may be associated with trisomy 8.|NCI|N|
C0003811|Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both.|HPO|N|
C0003813|An electrocardiographic finding in which the sinus rate fluctuates with the respiratory cycle. (CDISC)|NCI|N|
C0003834|A condition in which there is inadequate blood flow through an artery.|NCI|N|
C0003838|Pathological processes which result in the partial or complete obstruction of ARTERIES. They are characterized by greatly reduced or absence of blood flow through these vessels. They are also known as arterial insufficiency.|MSH|N|
C0003843|Abnormal communication between two ARTERIES that may result from injury or occur as a congenital abnormality.|MSH|N|
C0003850|Sclerosis (hardening) of the arteries with increased thickness of the wall of arteries as well as increased stiffness and a loss of elasticity.|HPO|N|
C0003851|Common occlusive arterial disease which is caused by atherosclerosis. It is characterized by lesions in the innermost layer (arterial intima) of arteries including the aorta and its branches to the extremities. Risk factors include smoking, hyperlipidemia, and hypertension.|MONDO|N|
C0003855|An abnormal connection between an artery and vein.|HPO|N|
C0003857|An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries.|HPO|N|
C0003860|Arterial inflammation.|HPO|N|
C0003862|Joint pain.|HPO|N|
C0003864|Inflammation of a joint.|HPO|N|
C0003868|Arthritis, especially of the great toe, as a result of gout. Acute gouty arthritis often is precipitated by trauma, infection, surgery, etc. The initial attacks are usually monoarticular but later attacks are often polyarticular. Acute and chronic gouty arthritis are associated with accumulation of MONOSODIUM URATE in and around affected joints.|MSH|N|
C0003869|The inflammation of one or more joints caused by any infectious pathogen within the joint space. Symptoms include pain, stiffness, and decreased range of motion in the affected joint.|NCI|N|
C0003872|Joint inflammation associated with psoriasis.|NCI|N|
C0003873|Rheumatoid arthritis is an inflammatory disease, primarily of the joints, with autoimmune features and a complex genetic component.|OMIM|N|
C0003886|A rare, non-progressive congenital disorder characterized by multiple joint contractures which are present at birth.|NCI|N|
C0003892|Chronic progressive degeneration of the stress-bearing portion of a joint, with bizarre hypertrophic changes at the periphery. It is probably a complication of a variety of neurologic disorders, particularly tabes dorsalis, involving loss of sensation, which leads to relaxation of supporting structures and chronic instability of the joint. (Dorland, 27th ed)|MONDO|N|
C0003907|A localized vasculitis resulting from deposition of antibody-antigen complexes.|NCI|N|
C0003910|A disorder characterized by the failure to use developmentally expected speech sounds that are appropriate for the individual's age (i.e., the individual makes errors in sound production or use or omits sounds such as final consonants).|MONDO|N|
C0003948|History of exposure to asbestos, a fibrous mineral with physical and chemical properties that make it resistant to heat and degradation.|HPO|N|
C0003949|A rare pneumoconiosis caused by exposure to asbestos particles. Symptoms may appear many years after exposure and include progressive dyspnea on exertion, dry cough, chest pain, tightness, inspiratory crackles, clubbing of the fingers. Later complications include mesothelioma and lung cancers.|ORDO|N|
C0003950|An infection that is caused by the roundworm Ascaris lumbricoides, many cases of which remain asymptomatic. During the transient larval migratory phase, shortness of breath, fever, and eosinophilia can occur. Depending on the intestinal worm burden, a spectrum of gastrointestinal tract symptoms can occur.|NCI|N|
C0003952|Infection with nematodes of the genus ascaridia. This condition usually occurs in fowl, often manifesting diarrhea.|MONDO|N|
C0003962|Accumulation of fluid in the peritoneal cavity.|HPO|N|
C0003969|The concentration of vitamin C in the blood circulation is below the lower limit of normal.|HPO|N|
C0003977|Aseptic necrosis involving the head and neck of the femur.|NCI|N|
C0004030|A rare infectious disease caused by inhalation of the opportunistic fungus <i>aspergillus</i> that can lead to the following manifestations: allergic bronchopulmonary aspergillosis (ABPA), aspergilloma, chronic necrotizing pulmonary aspergillosis (CNPA), and invasive aspergillosis (IA). Aspergilloma occurs in patients with cavitary lung disease and results in a fungal mass with variable clinical presentations from asymptomatic to life-threatening (massive hemoptysis). CNPA manifests as subacute pneumonia in patients with underlying disease. IA is disseminated aspergillosis that eventually invades other organs. Cutaneous aspergillosis is usually the dermatological manifestation of IA that manifests as erythematous-to-violaceous plaques or papules, often characterized by a central necrotic ulcer or eschar.|ORDO|N|
C0004044|A state of general hypoxia and hypercapnea, resulting in acidosis, which affects all tissues in the body.|NCI|N|
C0004045|Respiratory failure in the newborn.|HPO|N|
C0004093|A state characterized by a feeling of weakness and loss of strength leading to a generalized weakness of the body.|HPO|N|
C0004095|Eye strain, i.e., a feeling of fatigue or discomfort of the eyes related to 'overuse' of the eyes in activities such as reading or working at the computer and often accompanied by lacrimation or headache.|HPO|N|
C0004096|Asthma is characterized by increased responsiveness of the tracheobronchial tree to multiple stimuli, leading to narrowing of the air passages with resultant dyspnea, cough, and wheezing.|HPO|N|
C0004099|Asthma attacks following exercise.|HPO|N|
C0004106|Astigmatism (from the Greek 'a' meaning absence and 'stigma' meaning point) is a condition in which the parallel rays of light entering the eye through the refractive media are not focused on a single point. Both corneal and noncorneal factors contribute to refractive astigmatism. Corneal astigmatism is mainly the result of an aspheric anterior surface of the cornea, which can be measured readily by means of a keratometer; in a small fraction of cases (approximately 1 in 10) the effect is neutralized by the back surface. The curvature of the back surface of the cornea is not considered in most studies, because it is more difficult to measure; moreover, in the case of severe corneal astigmatism, there is evidence that both surfaces have the same configuration. Noncorneal factors are errors in the curvature of the 2 surfaces of the crystalline lens, irregularity in the refractive index of the lens, and an eccentric lens position. Since the cornea is the dominant component of the eye's refracting system, a highly astigmatic cornea is likely to result in a similarly astigmatic ocular refraction (summary by Clementi et al., 1998).|OMIM|N|
C0004114|Astrocytoma is a neoplasm of the central nervous system derived from astrocytes. Astrocytes are a type of glial cell, and thus astrocytoma is a subtype of glioma.|HPO|N|
C0004134|A type of ataxia characterized by the impairment of the ability to smoothly perform the elements of a voluntary movement in the appropriate order and speed. With dyssynergia, a voluntary movement appears broken down into its component parts.|HPO|N|
C0004135|Classic ataxia-telangiectasia (A-T) is characterized by progressive cerebellar ataxia beginning between ages one and four years, oculomotor apraxia, choreoathetosis, telangiectasias of the conjunctivae, immunodeficiency, frequent infections, and an increased risk for malignancy, particularly leukemia and lymphoma. Individuals with A-T are unusually sensitive to ionizing radiation. Non-classic forms of A-T have included adult-onset A-T and A-T with early-onset dystonia.|GeneReviews|N|
C0004138|An instance of an atactic disorder that is caused by an inherited genomic modification in an individual.|MONDO|N|
C0004144|Collapse of part of a lung associated with absence of inflation (air) of that part.|HPO|N|
C0004153|A condition characterized by patchy atheromas or atherosclerotic plaques which develop in the walls of medium-sized and large arteries and can lead to arterial stenosis with reduced or blocked blood flow.|HPO|N|
C0004158|A slow, continuous, involuntary writhing movement that prevents maintenance of a stable posture. Athetosis involves continuous smooth movements that appear random and are not composed of recognizable sub-movements or movement fragments. In contrast to chorea, in athetosis, the same regions of the body are repeatedly involved. Athetosis may worsen with attempts at movement of posture, but athetosis can also occur at rest.|HPO|N|
C0004238|An atrial arrhythmia characterized by disorganized atrial activity without discrete P waves on the surface EKG, but instead by an undulating baseline or more sharply circumscribed atrial deflections of varying amplitude an frequency ranging from 350 to 600 per minute.|HPO|N|
C0004239|A type of atrial arrhythmia characterized by atrial rates of between 240 and 400 beats per minute and some degree of atrioventricular node conduction block. Typically, the ventricular rate is half the atrial rate. In the EKG; atrial flutter waves are observed as sawtooth-like atrial activity. Pathophysiologically, atrial flutter is a form of atrial reentry in which there is a premature electrical impulse creates a self-propagating circuit.|HPO|N|
C0004245|Delayed or lack of conduction of atrial depolarizations through the atrioventricular node to the ventricles.|HPO|N|
C0004277|The loss of tooth structure by mechanical forces from opposing teeth.|NCI|N|
C0004303|Disorders of hearing or auditory perception due to pathological processes of the AUDITORY PATHWAYS in the CENTRAL NERVOUS SYSTEM. These include CENTRAL HEARING LOSS and AUDITORY PERCEPTUAL DISORDERS.|MSH|N|
C0004310|A disorder characterized by the inability of the brain to properly interpret or process the auditory signals it receives from the anatomic structures of the ear.|NCI|N|
C0004331|Atrioventricular (AV) dissociation is present if the atria and the ventricles are under the control of two separate pacemakers. AV dissociation can occur in the absence of a primary AV conduction disturbance.|HPO|N|
C0004352|Autism, the prototypic pervasive developmental disorder (PDD), is usually apparent by 3 years of age. It is characterized by a triad of limited or absent verbal communication, a lack of reciprocal social interaction or responsiveness, and restricted, stereotypic, and ritualized patterns of interests and behavior (Bailey et al., 1996; Risch et al., 1999). 'Autism spectrum disorder,' sometimes referred to as ASD, is a broader phenotype encompassing the less severe disorders Asperger syndrome (see ASPG1; 608638) and pervasive developmental disorder, not otherwise specified (PDD-NOS). 'Broad autism phenotype' includes individuals with some symptoms of autism, but who do not meet the full criteria for autism or other disorders. Mental retardation coexists in approximately two-thirds of individuals with ASD, except for Asperger syndrome, in which mental retardation is conspicuously absent (Jones et al., 2008). Genetic studies in autism often include family members with these less stringent diagnoses (Schellenberg et al., 2006).
Levy et al. (2009) provided a general review of autism and autism spectrum disorder, including epidemiology, characteristics of the disorder, diagnosis, neurobiologic hypotheses for the etiology, genetics, and treatment options.
Genetic Heterogeneity of Autism
Autism is considered to be a complex multifactorial disorder involving many genes. Accordingly, several loci have been identified, some or all of which may contribute to the phenotype. Included in this entry is AUTS1, which has been mapped to chromosome 7q22.
Other susceptibility loci include AUTS3 (608049), which maps to chromosome 13q14; AUTS4 (608636), which maps to chromosome 15q11; AUTS6 (609378), which maps to chromosome 17q11; AUTS7 (610676), which maps to chromosome 17q21; AUTS8 (607373), which maps to chromosome 3q25-q27; AUTS9 (611015), which maps to chromosome 7q31; AUTS10 (611016), which maps to chromosome 7q36; AUTS11 (610836), which maps to chromosome 1q41; AUTS12 (610838), which maps to chromosome 21p13-q11; AUTS13 (610908), which maps to chromosome 12q14; AUTS14A (611913), which has been found in patients with a deletion of a region of 16p11.2; AUTS14B (614671), which has been found in patients with a duplication of a region of 16p11.2; AUTS15 (612100), associated with mutation in the CNTNAP2 gene (604569) on chromosome 7q35-q36; AUTS16 (613410), associated with mutation in the SLC9A9 gene (608396) on chromosome 3q24; AUTS17 (613436), associated with mutation in the SHANK2 gene (603290) on chromosome 11q13; AUTS18 (615032), associated with mutation in the CHD8 gene (610528) on chromosome 14q11; AUTS19 (615091), associated with mutation in the EIF4E gene (133440) on chromosome 4q23; and AUTS20 (618830), associated with mutation in the NLGN1 gene (600568) on chromosome 3q26. (NOTE: the symbol 'AUTS2' has been used to refer to a gene on chromosome 7q11 (KIAA0442; 607270) and therefore is not used as a part of this autism locus series.)
There are several X-linked forms of autism susceptibility: AUTSX1 (300425), associated with mutations in the NLGN3 gene (300336); AUTSX2 (300495), associated with mutations in NLGN4 (300427); AUTSX3 (300496), associated with mutations in MECP2 (300005); AUTSX4 (300830), associated with variation in the region on chromosome Xp22.11 containing the PTCHD1 gene (300828); AUTSX5 (300847), associated with mutations in the RPL10 gene (312173); and AUTSX6 (300872), associated with mutation in the TMLHE gene (300777).
A locus on chromosome 2q (606053) associated with a phenotype including intellectual disability and speech deficits was formerly designated AUTS5.
Folstein and Rosen-Sheidley (2001) reviewed the genetics of autism.|OMIM|N|
C0004364|A disorder resulting from loss of function or tissue destruction of an organ or multiple organs, arising from humoral or cellular immune responses of the individual to his own tissue constituents. It may be systemic (e.g., systemic lupus erythematosus), or organ specific, (e.g., thyroiditis).|NCI|N|
C0004368|The occurrence of an immune reaction against the organism's own cells or tissues.|HPO|N|
C0004377|Automatic, mechanical, and apparently undirected behavior which is outside of conscious control.|MSH|N|
C0004421|A group of transmissible viral diseases of chickens and turkeys. Liver tumors are found in most forms, but tumors can be found elsewhere.|MSH|N|
C0004426|Connective tissue tumors, affecting primarily fowl, that are usually caused by avian sarcoma viruses.|MSH|N|
C0004444|A disorder characterized by an enduring pattern of avoidance of social situations and interpersonal contact due to overwhelming feelings of social inadequacy and a hypersensitivity to negative evaluation or rejection.|NCI|N|
C0004509|Absence of any measurable level of sperm,whereby spermatozoa cannot be observed even after centrifugation of the semen pellet.|HPO|N|
C0004576|Babesiosis is an infectious disease caused by protozoa of the genus <i>Babesia</i> and characterized by a febrile illness and hemolytic anemia but with manifestations ranging from an asymptomatic infection to a fulminating illness that can result in death.|ORDO|N|
C0004599|A complex of cyclic polypeptide antibiotics, mainly bacitracin A, produced by spore-forming organisms belonging to the licheniformin group of the Bacillus subtilis with antibacterial activity. Bacitracin binds to C55-isoprenyl pyrophosphate, a biphosphate lipid transport molecule that carries the building blocks of the peptidoglycan bacterial cell wall. The binding interferes with the enzymatic dephosphorylation of the C55-isoprenyl pyrophosphate and prevents peptidoglycan synthesis, thereby inhibiting bacterial cell growth.|NCI|N|
C0004604|An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the back.|HPO|N|
C0004606|An early stage of diabetic retinopathy that is characterized by retinal hemorrhage and exudate, but without proliferation of the blood vessels.|NCI|N|
C0004610|Presence of viable bacteria in the blood.|HPO|N|
C0004615|Infections caused by bacteria and fungi, general, specified, or unspecified.|MSH|N|
C0004623|An acute infectious disorder that is caused by gram positive or gram negative bacteria; representative examples include pneumococcal, streptococcal, salmonella, and meningeal infections.|NCI|N|
C0004626|Acute infection of the lung parenchyma caused by bacteria (e.g., Streptococcus pneumoniae, Haemophilus influenzae, Chlamydia pneumoniae, Mycoplasma pneumoniae, and Legionella pneumophila). Signs and symptoms include productive cough, fever, chills, shortness of breath, and chest pain.|NCI|N|
C0004659|The presence of bacteria in the urine.|HPO|N|
C0004669|Infections with bacteria of the genus bacteroides.|MONDO|N|
C0004681|An occupational lung disorder caused by inhalation of bagasse dust. In the acute phase, it manifests as cough, dyspnea, fever, chills, and weakness. Chronic exposure may lead to interstitial lung fibrosis.|NCI|N|
C0004690|Inflammation of glans penis|HPO|N|
C0004692|Balantidiasis is an infectious disease, rare in western countries. It is caused by <I>Balantidium coli</I>, a single celled parasite (ciliate protozoan) that is usually associated with intestinal infection in areas associated with pig rearing. It infects humans occasionally, mostly immunocompromised patients. Some infected people may have no symptoms or only mild diarrhea and abdominal discomfort but others may experience more severe symptoms reminiscent of an acute inflammation of the intestines. Symptoms of Balantidiasis may be similar to those of other infections that cause intestinal inflammation, for example, amoebic dysentery. On very rare occasions this bacterium may invade extra-intestinal organs, mostly the lungs. Metronidazole is the treatment of choice.|ORDO|N|
C0004698|A chronic tubulointerstitial nephropathy that affects people in certain rural areas along the Danube river in the Balkans. It leads to end-stage renal disease.|MONDO|N|
C0004712|A rare multiple sclerosis variant characterized by discrete concentrically layered, ring-like lesions in the cerebral white matter, consisting of alternating layers of myelinated and demyelinated tissue. Patients most commonly present with symptoms of an intracerebral mass lesion, including headache, cognitive abnormalities, behavioral changes, seizures, aphasia, or hemiparesis, among others, although there may also be classic focal symptoms of multiple sclerosis, such as focal weakness, ataxia, sensory disturbance, or diplopia.|ORDO|N|
C0004763|Barrett esophagus, or Barrett metaplasia, describes the phenotypic change of normal esophageal squamous epithelium to a columnar and intestinal-type epithelium. This metaplastic change is important because patients with Barrett esophagus have an increased risk of esophageal adenocarcinoma. The main cause of Barrett metaplasia is gastroesophageal reflux (GER; 109350). The retrograde movement of acid and bile salts from the stomach into the esophagus in this disease causes prolonged injury to the esophageal epithelium and induces chronic esophagitis, which in turn is believed to trigger the pathologic changes (summary by Wong et al., 2005).|OMIM|N|
C0004767|Distension of the Bartholin gland duct caused by an accumulation of mucus in the duct, usually as a result of obstruction of the gland duct orifice.|NCI|N|
C0004771|A gram-negative bacterial infection caused by bacteria of the genus Bartonella. It is transmitted by ticks, flies and mosquitoes. Signs and symptoms include fever, headache, muscle pain, enlargement of the lymph nodes and anemia.|NCI|N|
C0004773|Infections with bacteria of the family bartonellaceae.|MONDO|N|
C0004775|Bartter syndrome is a group of very similar kidney disorders that cause an imbalance of potassium, sodium, chloride, and related molecules in the body.\n\nTwo major forms of Bartter syndrome are distinguished by their age of onset and severity. One form begins before birth (antenatal) and is often life-threatening. The other form, often called the classical form, begins in early childhood and tends to be less severe. Once the genetic causes of Bartter syndrome were identified, researchers also split the disorder into different types based on the genes involved. Types I, II, and IV have the features of antenatal Bartter syndrome. Because type IV is also associated with hearing loss, it is sometimes called antenatal Bartter syndrome with sensorineural deafness. Type III usually has the features of classical Bartter syndrome.\n\nIn some cases, Bartter syndrome becomes apparent before birth. The disorder can cause polyhydramnios, which is an increased volume of fluid surrounding the fetus (amniotic fluid). Polyhydramnios increases the risk of premature birth.\n\nBeginning in infancy, affected individuals often fail to grow and gain weight at the expected rate (failure to thrive). They lose excess amounts of salt (sodium chloride) in their urine, which leads to dehydration, constipation, and increased urine production (polyuria). In addition, large amounts of calcium are lost through the urine (hypercalciuria), which can cause weakening of the bones (osteopenia). Some of the calcium is deposited in the kidneys as they are concentrating urine, leading to hardening of the kidney tissue (nephrocalcinosis). Bartter syndrome is also characterized by low levels of potassium in the blood (hypokalemia), which can result in muscle weakness, cramping, and fatigue. Rarely, affected children develop hearing loss caused by abnormalities in the inner ear (sensorineural deafness).|MedlinePlus Genetics|N|
C0004779|Nevoid basal cell carcinoma syndrome (NBCCS) is characterized by the development of multiple jaw keratocysts, frequently beginning in the second decade of life, and/or basal cell carcinomas (BCCs) usually from the third decade onward. Approximately 60% of individuals have a recognizable appearance with macrocephaly, frontal bossing, coarse facial features, and facial milia. Most individuals have skeletal anomalies (e.g., bifid ribs, wedge-shaped vertebrae). Ectopic calcification, particularly in the falx, is present in more than 90% of affected individuals by age 20 years. Cardiac and ovarian fibromas occur in approximately 2% and 20% of individuals respectively. Approximately 5% of all children with NBCCS develop medulloblastoma (primitive neuroectodermal tumor), generally the desmoplastic subtype. The risk of developing medulloblastoma is substantially higher in individuals with an SUFU pathogenic variant (33%) than in those with a PTCH1 pathogenic variant (<2%). Peak incidence is at age one to two years. Life expectancy in NBCCS is not significantly different from average.|GeneReviews|N|
C0004782|Diseases of the BASAL GANGLIA including the PUTAMEN; GLOBUS PALLIDUS; claustrum; AMYGDALA; and CAUDATE NUCLEUS. DYSKINESIAS (most notably involuntary movements and alterations of the rate of movement) represent the primary clinical manifestations of these disorders. Common etiologies include CEREBROVASCULAR DISORDERS; NEURODEGENERATIVE DISEASES; and CRANIOCEREBRAL TRAUMA.|MSH|N|
C0004812|A syndrome which occurs as a result of the occlusion of the basilar artery. It may be caused by atherosclerosis, embolism or hemorrhage. Clinical signs include dizziness, headache, vomiting, hemiparesis or hemiplegia, dysarthria, dysphagia, blurred vision and loss of consciousness. The clinical course is variable and is dependent upon the extent of the occlusion and the location of the clot along the basilar artery which determines the resultant neurologic impairment. Prognosis is dismal in cases where a complete occlusion occurs with rapid deterioration of neurological function.|NCI|N|
C0004842|A clinical condition resulting from repeated physical and psychological injuries inflicted on a child by the parents or caregivers.|MSH|N|
C0004903|Beckwith-Wiedemann syndrome (BWS) is a growth disorder variably characterized by neonatal hypoglycemia, macrosomia, macroglossia, hemihyperplasia, omphalocele, embryonal tumors (e.g., Wilms tumor, hepatoblastoma, neuroblastoma, and rhabdomyosarcoma), visceromegaly, adrenocortical cytomegaly, renal abnormalities (e.g., medullary dysplasia, nephrocalcinosis, medullary sponge kidney, and nephromegaly), and ear creases/pits. BWS is considered a clinical spectrum, in which affected individuals may have many of these features or may have only one or two clinical features. Early death may occur from complications of prematurity, hypoglycemia, cardiomyopathy, macroglossia, or tumors. However, the previously reported mortality of 20% is likely an overestimate given better recognition of the disorder along with enhanced treatment options. Macroglossia and macrosomia are generally present at birth but may have postnatal onset. Growth rate slows around age seven to eight years. Hemihyperplasia may affect segmental regions of the body or selected organs and tissues.|GeneReviews|N|
C0004930|A specific behavioral problem that occurs in persistent patterns and characteristic clusters and that causes clinically significant impairment.|NCI|N|
C0004936|A disorder characterized by behavioral and/or psychological abnormalities, often accompanied by physical symptoms. The symptoms may cause clinically significant distress or impairment in social and occupational areas of functioning. Representative examples include anxiety disorders, cognitive disorders, mood disorders and schizophrenia.|NCI|N|
C0004941|Observable manifestations of impaired psychological functioning.|MSH|N|
C0004943|Behçet disease is an inflammatory condition that affects many parts of the body. The health problems associated with Behçet disease result from widespread inflammation of blood vessels (vasculitis). This inflammation most commonly affects small blood vessels in the mouth, genitals, skin, and eyes.\n\nPainful mouth sores called aphthous ulcers are usually the first sign of Behçet disease. These sores can occur on the lips, tongue, inside the cheeks, the roof of the mouth, the throat, and the tonsils. The ulcers look like common canker sores, and they typically heal within one to two weeks. About 75 percent of all people with Behçet disease develop similar ulcers on the genitals. These ulcers occur most frequently on the scrotum in men and on the labia in women.\n\nBehçet disease can also cause painful bumps and sores on the skin.  Most affected individuals develop pus-filled bumps that resemble acne. These bumps can occur anywhere on the body. Some affected people also have red, tender nodules called erythema nodosum. These nodules usually develop on the legs but can also occur on the arms, face, and neck.\n\nAn inflammation of the eye called uveitis is found in more than half of people with Behçet disease. Eye problems are more common in younger people with the disease and affect men more often than women. Uveitis can result in blurry vision and an extreme sensitivity to light (photophobia). Rarely, inflammation can also cause eye pain and redness. If untreated, the eye problems associated with Behçet disease can lead to blindness.\n\nJoint involvement is also common in Behçet disease. Often this affects one joint at a time, with each affected joint becoming swollen and painful and then getting better.\n\nLess commonly, Behçet disease can affect the brain and spinal cord (central nervous system), gastrointestinal tract, large blood vessels, heart, lungs, and kidneys. Central nervous system abnormalities can lead to headaches, confusion, personality changes, memory loss, impaired speech, and problems with balance and movement. Involvement of the gastrointestinal tract can lead to a hole in the wall of the intestine (intestinal perforation), which can cause serious infection and may be life-threatening.\n\nThe signs and symptoms of Behçet disease usually begin in a person's twenties or thirties, although they can appear at any age. Some affected people have relatively mild symptoms that are limited to sores in the mouth and on the genitals. Others have more severe symptoms affecting various parts of the body, including the eyes and the vital organs. The features of Behçet disease typically come and go over a period of months or years. In most affected individuals, the health problems associated with this disorder improve with age.|MedlinePlus Genetics|N|
C0004945|A chronic skin and tissue disease caused by infection by the endemicum subspecies of the spirochete Treponema pallidum.|MONDO|N|
C0004968|The presence of free monoclonal immunoglobulin light chains in the urine.|HPO|N|
C0004991|A neoplasm that arises from the colon and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C0004992|A neoplasm that arises from a cranial nerve and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C0004994|A non-metastasizing neoplasm that arises from the lower jaw bone.|NCI|N|
C0004997|A neoplasm that arises from the ovary and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential. Representative examples include serous cystadenoma, mucinous cystadenoma, clear cell adenofibroma, benign Brenner tumor, thecoma, and fibroma.|NCI|N|
C0004998|A neoplasm that arises from the skin and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C0005122|Abnormally low concentrations of vitamin B1 in the blood.|NCI|N|
C0005129|Bernard-Soulier syndrome is an autosomal recessive bleeding disorder caused by a defect in or deficiency of the platelet membrane von Willebrand factor (VWF; 613160) receptor complex, glycoprotein Ib (GP Ib). GP Ib is composed of 4 subunits encoded by 4 separate genes: GP1BA, GP1BB, GP9, and GP5 (173511).
Genetic Heterogeneity of Platelet-Type Bleeding Disorders
Inherited platelet disorders are a heterogeneous group of bleeding disorders affecting platelet number, function, or both. Functional defects can involve platelet receptors, signaling pathways, cytoskeletal proteins, granule contents, activation, or aggregation (review by Cox et al., 2011 and Nurden and Nurden, 2011).
Platelet-type bleeding disorders include Bernard-Soulier syndrome (BDPLT1); Glanzmann thrombasthenia (BDPLT2; 273800), caused by mutation in the ITGA2B (607759) or ITGB3 (173470) gene; pseudo-von Willebrand disease (BDPLT3; 177820), caused by mutation in the GP1BA gene (606672); gray platelet syndrome (BDPLT4; 139090), caused by mutation in the NBEAL2 gene (614169); Quebec platelet disorder (BDPLT5; 601709), caused by tandem duplication of the PLAU gene (191840); May-Hegglin anomaly (BDPLT6; 155100), caused by mutation in the MYH9 gene (160775); Scott syndrome (BDPLT7; 262890), caused by mutation in the TMEM16F gene (608663); BDPLT8 (609821), caused by mutation in the P2RY12 gene (600515); BDPLT9 (614200), associated with deficiency of the glycoprotein Ia/IIa receptor (see ITGA2; 192974); glycoprotein IV deficiency (BDPLT10; 608404), caused by mutation in the CD36 gene (173510); BDPLT11 (614201), caused by mutation in the GP6 gene (605546); BDPLT12 (605735), associated with a deficiency of platelet COX1 (176805); susceptibility to BDPLT13 (614009), caused by mutation in the TBXA2R gene (188070); BDPLT14 (614158), associated with deficiency of thromboxane synthetase (TBXAS1; 274180); BDPLT15 (615193), caused by mutation in the ACTN1 gene (102575); BDPLT16 (187800), caused by mutation in the ITGA2B (607759) or ITGB3 (173470) gene; BDPLT17 (187900), caused by mutation in the GFI1B gene (604383); BDPLT18 (615888), caused by mutation in the RASGRP2 gene (605577); BDPLT19 (616176), caused by mutation in the PRKACG gene (176893); BDPLT20 (616913), caused by mutation in the SLFN14 gene (614958); BDPLT21 (617443), caused by mutation in the FLI1 gene (193067); BDPLT22 (618462), caused by mutation in the EPHB2 gene (600997); BDPLT23 (619267), caused by mutation in the ITGB3 gene (173470); BDPLT24 (619271), caused by mutation in the ITGB3 gene (173470); and BDPLT25 (620486), caused by mutation in the TPM4 gene (600317).
See reviews by Rao (2003), Cox et al. (2011), and Nurden and Nurden (2011).
For a discussion of the genetic heterogeneity of hereditary thrombocytopenia, see THC1 (313900).|OMIM|N|
C0005136|A small cerebral artery aneurysm, characterized by a saccular appearance, that typically forms at the junction of vessels in the circle of Willis.|NCI|N|
C0005283|Beta-thalassemia (ß-thalassemia) is characterized by reduced synthesis of the hemoglobin subunit beta (hemoglobin beta chain) that results in microcytic hypochromic anemia, an abnormal peripheral blood smear with nucleated red blood cells, and reduced amounts of hemoglobin A (HbA) on hemoglobin analysis. Individuals with thalassemia major have severe anemia and hepatosplenomegaly; they usually come to medical attention within the first two years of life. Without treatment, affected children have severe failure to thrive and shortened life expectancy. Treatment with a regular transfusion program and chelation therapy, aimed at reducing transfusion iron overload, allows for normal growth and development and may improve the overall prognosis. Individuals with thalassemia intermedia present later and have milder anemia that does not require regular treatment with blood transfusion. These individuals are at risk for iron overload secondary to increased intestinal absorption of iron as a result of ineffective erythropoiesis.|GeneReviews|N|
C0005395|A non-neoplastic or neoplastic disorder that affects the intrahepatic or extrahepatic bile ducts. Representative examples of non-neoplastic disorders include cholangitis and biliary atresia. Representative examples of neoplastic disorders include extrahepatic bile duct adenoma and cholangiocarcinoma.|NCI|N|
C0005396|A benign or malignant neoplasm that affects the intrahepatic or extrahepatic bile ducts. Representative examples of benign neoplasms include bile duct adenoma and extrahepatic bile duct lipoma. Representative examples of malignant neoplasms include intrahepatic and extrahepatic cholangiocarcinoma.|NCI|N|
C0005398|Impairment of bile flow due to obstruction in large bile ducts outside the liver.|HPO|N|
C0005403|Retrograde bile flow. Reflux of bile can be from the duodenum to the stomach (duodenogastric reflux); to the esophagus (gastroesophageal reflux); or to the pancreas.|MONDO|N|
C0005411|Atresia of the biliary tree.|HPO|N|
C0005416|A motility disorder characterized by biliary colic in the absence of gallstones with a reduced gallbladder ejection fraction.|HPO|N|
C0005417|An abnormal communication between the bile ducts and another organ or cavity.|NCI|N|
C0005424|Diseases in any part of the BILIARY TRACT including the BILE DUCTS and the GALLBLADDER.|MSH|N|
C0005426|A tumor (abnormal growth of tissue) of the biliary system.|HPO|N|
C0005443|Presence of conjugated bilirubin in the urine.|HPO|N|
C0005458|The interaction of two or more substrates or ligands with the same binding site. The displacement of one by the other is used in quantitative and selective affinity measurements.|MSH|N|
C0005461|Any inability to efficiently utilize and/or sustain binocular vision.|NCI|N|
C0005586|Bipolar disorder is an illness of mood characterized by alternating episodes of elevated and depressed moods, which are interspersed with euthymic periods.|HPO|N|
C0005587|The depressive stage of bipolar disorder.|NCI|N|
C0005591|Diseases of birds not considered poultry, therefore usually found in zoos, parks, and the wild. The concept is differentiated from POULTRY DISEASES which is for birds raised as a source of meat or eggs for human consumption, and usually found in barnyards, hatcheries, etc.|MSH|N|
C0005592|Pigeon-breeder's lung disease, also called bird fancier?s lung, is a hypersensitivity pneumonitis (see this term) induced by inhalation of bird derived-proteins. Presentation can be acute with chills, cough, fever, shortness of breath, chest tightness usually resolving within 24 h after cessation of antigen exposure, sub-acute with cough and dyspnea over several days to weeks, whereas chronic form results in breathlessness, coughing, lack of appetite and weight loss.|ORDO|N|
C0005603|Information about the delivery and health status at birth typically elicited as a part of the past medical history.|HPO|N|
C0005607|Indicates the sequence of a biologic entity''s birth in the family group.|NCI|N|
C0005681|A complication of malaria resulting from hemolysis.|NCI|N|
C0005683|Buildups of minerals that form in the urinary bladder.|HPO|N|
C0005684|A primary or metastatic malignant neoplasm involving the bladder.|NCI|N|
C0005686|A non-neoplastic or neoplastic disorder affecting the urinary bladder. A representative example of non-neoplastic bladder disorder is bacterial bladder infection. A representative example of neoplastic bladder disorder is bladder carcinoma.|NCI|N|
C0005689|Eversion of the posterior bladder wall through the congenitally absent lower anterior abdominal wall and anterior bladder wall.|HPO|N|
C0005690|The presence of a fistula connecting the urinary bladder to another organ or the skin. The fistula can involve the bowel, the vagina, or rarely, the skin.|HPO|N|
C0005694|A compression or resistance upon the bladder outflow channel at any location from the bladder neck to urethral meatus, which usually causes lower urinary tract symptoms (LUTS).|HPO|N|
C0005695|The presence of a neoplasm of the urinary bladder.|HPO|N|
C0005697|A type of bladder dysfunction caused by neurologic damage. Neurogenic bladder can be flaccid or spastic. Common manifestatios of neurogenic bladder are overflow incontinence, frequency, urgency, urge incontinence, and retention.|HPO|N|
C0005699|An advanced phase of chronic myelogenous leukemia. It is characterized by: 1. the presence of blasts in the peripheral blood or bone marrow that are at least 20% of the peripheral blood white cells or of the nucleated cells in the bone marrow respectively, or 2. an extramedullary proliferation of blasts, and/or 3. when there are large aggregates and clusters of blasts in the bone marrow biopsy specimen (adapted from WHO, 2001).|NCI|N|
C0005716|A fungal infection caused by inhalation of spores of Blastomyces dermatitidis. It presents with flu-like symptoms including fever, chills, cough, pleuritic chest pain and myalgias. It may lead to a chronic granulomatous pulmonary infection and disseminate to other anatomic sites including skin, nervous system and bones.|NCI|N|
C0005717|A pulmonary disease resulting from infection with Blastomyces dermatitidis, which is prevalent in North America.|NCI|N|
C0005740|A mixture of glycopeptide antineoplastic antibiotics isolated from the bacterium Streptomyces verticillus. Bleomycin forms complexes with iron that reduce molecular oxygen to superoxide and hydroxyl radicals which cause single- and double-stranded breaks in DNA; these reactive oxygen species also induce lipid peroxidation, carbohydrate oxidation, and alterations in prostaglandin synthesis and degradation.|NCI|N|
C0005741|Inflammation of the eyelids.|HPO|N|
C0005742|Blepharochalasis is characterized by recurrent, non-painful, nonerythematous episodes of eyelid edema. It has been divided into hypertrophic and atrophic forms. In the hypertrophic form recurrent edema results in orbital fat herniation through a weakened orbital septum. Most patients who have blepharochalasis present in an atrophic condition with atrophy of redundant eyelid skin and superior nasal fat pads.|HPO|N|
C0005743|Inflammation of both the eyelids and the conjunctiva.|NCI|N|
C0005744|A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures.|HPO|N|
C0005745|The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).|HPO|N|
C0005747|A focal dystonia that affects the muscles of the eyelids and brow, associated with involuntary recurrent spasm of both eyelids.|HPO|N|
C0005750|A disorder affecting the small intestine. It is caused by the stasis of food and subsequent overgrowth of bacteria in a portion of the small intestine that is unintentionally bypassed as a complication of abdominal surgery or as a sequela of gastrointestinal disorders which impede effective motility. Clinical signs include bloating, abdominal pain, diarrhea and weight loss. If untreated, the clinical course progresses to malabsorption of fats, vitamin B12 and calcium, the latter which predisposes to nephrolithiasis and osteoporosis.|NCI|N|
C0005754|Blindness with onset at birth.|HPO|N|
C0005758|A fluid-filled, raised, often translucent lesion, greater than 1 cm in diameter|SNOMEDCT_US|N|
C0005779|An abnormality of the coagulation cascade, which is comprised of the contact activation pathway (also known as the intrinsic pathway) and the tissue factor pathway (also known as the extrinsic pathway) as well as cofactors and regulators.|HPO|N|
C0005806|An antigenic mismatch between donor and recipient blood. Antibodies present in the recipient''s serum may be directed against antigens in the donor product. Such a mismatch may result in a transfusion reaction in which, for example, donor blood is hemolyzed. (From Saunders Dictionary & Encyclopedia of Laboratory Medicine and Technology, 1984).|MSH|N|
C0005810|Any of the various types of human blood whose antigen characteristics determine compatibility in transfusion. While the ABO and Rhesus systems are the most well known, there are in total about 300 different blood type antigens distributed across 34 different blood type systems.|HPO|N|
C0005818|A disorder of platelet function or platelet production that may cause increased bleeding.|NCI|N|
C0005830|Hematologic diseases caused by structural or functional defects of BLOOD PROTEINS.|MSH|N|
C0005859|Bloom syndrome (BSyn) is characterized by severe pre- and postnatal growth deficiency, immune abnormalities, sensitivity to sunlight, insulin resistance, and a high risk for many cancers that occur at an early age. Despite their very small head circumference, most affected individuals have normal intellectual ability. Women may be fertile but often have early menopause, and men tend to be infertile, with only one confirmed case of paternity. Serious medical complications that are more common than in the general population and that also appear at unusually early ages include chronic obstructive pulmonary disease, diabetes mellitus as a result of insulin resistance, and cancer of a wide variety of types and anatomic sites.|GeneReviews|N|
C0005866|A reovirus infection, chiefly of sheep, characterized by a swollen blue tongue, catarrhal inflammation of upper respiratory and gastrointestinal tracts, and often by inflammation of sensitive laminae of the feet and coronet.|MSH|N|
C0005874|Involuntary reddening, especially of the face, associated with feelings of embarrassment, confusion or shame.|MSH|N|
C0005887|Preoccupations with appearance or self-image causing significant distress or impairment in important areas of functioning.|MONDO|N|
C0005904|Significant alterations in temperature of the human body, above or below 98.6 degrees F. or 37 degrees C. when taken orally.|MSH|N|
C0005911|An increase or decrease in the weight of an individual.|NCI|N|
C0005937|A fluid filled cavity that develops with a bone.|HPO|N|
C0005940|Diseases of bones.|MONDO|N|
C0005941|Any disorder of development of the bone.|NCI|N|
C0005942|Diseases of the bones related to hyperfunction or hypofunction of the endocrine glands.|MSH|N|
C0005943|Bone diseases caused by pathogenic microorganisms.|MSH|N|
C0005944|A group of disorders that affect the bones secondary to increased levels of minerals or deficient levels of minerals such as calcium, magnesium, phosphorus, and vitamin D. Representative examples are osteomalacia, osteoporosis, and Paget disease.|NCI|N|
C0005956|Any disease of the bone marrow.|NCI|N|
C0005959|Increase in the number of hematopoietic cells in the bone marrow. It may involve all or individual hematopoietic cell lines.|NCI|N|
C0005961|A procedure to replace diseased bone marrow with transplanted healthy bone marrow cells.|NCI|N|
C0005967|A benign, intermediate, or malignant neoplasm involving the bone or articular cartilage.|NCI|N|
C0005974|A disease that has its basis in the disruption of bone resorption. Bone resorption is a process in which specialized cells known as osteoclasts degrade the organic and inorganic portions of bone, and endocytose and transport the degradation products.|MONDO|N|
C0006008|Congenital disorder of lambs caused by a virus closely related to or identical with certain strains of bovine viral diarrhea virus.|MSH|N|
C0006009|Borderline intellectual disability is defined as an intelligence quotient (IQ) in the range of 70-85.|HPO|N|
C0006012|A personality disorder characterized by impulsive behavior and unpredictable, capricious mood. Affected individuals show a tendency to have outbursts of emotion and an inability to control these behavioral explosions. They generally experience an intense fear of abandonment or instability and also struggle with feelings of emptiness.|HPO|N|
C0006015|Any disease caused by infection with organisms of the genus Bordetella.|MONDO|N|
C0006023|An encephalomyelitis of horses, sheep and cattle caused by borna disease virus.|MONDO|N|
C0006035|Infections with bacteria of the genus borrelia.|MONDO|N|
C0006057|Botulism is a rare acquired neuromuscular junction disease, characterized by descending flaccid paralysis caused by botulinum neurotoxins (BoNTs), including four clinical forms with different modes of acquisition.|ORDO|N|
C0006060|A rare spotted fever rickettsiosis caused by infection with the tick-borne bacterium <i>Rickettsia conorii</i>, characterized by the onset of fever after an incubation period of about a week, followed by a centripetally spreading maculopapular rash, which may evolve into a petechial form. Accompanying symptoms are headaches, myalgia and/or arthralgia, among others. The typical ''tache noire'' may be observed at the site of the tick bite for several days. The disease is endemic in Africa, Southern Europe, and India.|ORDO|N|
C0006075|Acute disease of cattle caused by the bovine viral diarrhea viruses (DIARRHEA VIRUSES, BOVINE VIRAL). Often mouth ulcerations are the only sign but fever, diarrhea, drop in milk yield, and loss of appetite are also seen. Severity of clinical disease varies and is strain dependent. Outbreaks are characterized by low morbidity and high mortality.|MSH|N|
C0006079|A form of squamous cell carcinoma in situ. It is a distinct clinicopathological entity and arises from the skin or the mucocutaneous junction. It affects predominantly white males in their 6-8th decades of life. Exposed and non-exposed skin sites are equally affected. UV damage and ingestion of inorganic arsenic may play a role in the development of the disease. On the skin surface, it presents as a single or multiple erythematous, scaly, keratotic patches or plaques. The clinical entity of erythroplasia of Queyrat is regarded as Bowen disease of the penis and it presents as an asymptomatic, red, circumscribed plaque. Morphologically, Bowen disease is characterized by the presence of hyperkeratosis, parakeratosis, dyskeratosis, and acanthosis. The keratotic squamous cells are atypical and display hyperchromatism and abnormal mitotic figures. The dermoepidermal basement membrane is intact. Complete surgical removal of the lesion may be curative.|NCI|N|
C0006105|A collection of pus, immune cells, and other material in the brain.|HPO|N|
C0006109|Encephalopathy that is persistent or long-standing in nature.|NCI|N|
C0006110|Irreversible absence of cortical and brain stem functioning.|NCI|N|
C0006111|A non-neoplastic or neoplastic disorder that affects the brain.|NCI|N|
C0006112|Acquired or inborn metabolic diseases that produce brain dysfunction or damage. These include primary (i.e., disorders intrinsic to the brain) and secondary (i.e., extracranial) metabolic conditions that adversely affect cerebral function.|MSH|N|
C0006114|Abnormal accumulation of fluid in the brain.|HPO|N|
C0006118|A benign or malignant neoplasm that arises from or metastasizes to the brain.|HPO|N|
C0006123|Blockage of a branch of the retinal artery. This can cause loss of a section of visual field.|HPO|N|
C0006131|A branchial cyst is a remnant of embryonic development resulting from a failure of obliteration of a branchial cleft and consists of a subcutaneous cystic mass. Cysts are located anterior or posterior to the ear or in the submandibular region.|HPO|N|
C0006142|Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. Although breast cancer is much more common in women, this form of cancer can also develop in men.  In both women and men, the most common form of breast cancer begins in cells lining the milk ducts (ductal cancer). In women, cancer can also develop in the glands that produce milk (lobular cancer). Most men have little or no lobular tissue, so lobular cancer in men is very rare. \n\nIn its early stages, breast cancer usually does not cause pain and may exhibit no noticeable symptoms. As the cancer progresses, signs and symptoms can include a lump or thickening in or near the breast; a change in the size or shape of the breast; nipple discharge, tenderness, or retraction (turning inward); and skin irritation, dimpling, redness, or scaliness. However, these changes can occur as part of many different conditions. Having one or more of these symptoms does not mean that a person definitely has breast cancer.\n\nIn some cases, cancerous cells can invade surrounding breast tissue. In these cases, the condition is known as invasive breast cancer. Sometimes, tumors spread to other parts of the body. If breast cancer spreads, cancerous cells most often appear in the bones, liver, lungs, or brain. Tumors that begin at one site and then spread to other areas of the body are called metastatic cancers.\n\nA small percentage of all breast cancers cluster in families. These cancers are described as hereditary and are associated with inherited gene mutations. Hereditary breast cancers tend to develop earlier in life than noninherited (sporadic) cases, and new (primary) tumors are more likely to develop in both breasts.|MedlinePlus Genetics|N|
C0006144|A cystic lesion located in breast tissue.|NCI|N|
C0006145|A non-neoplastic or neoplastic disorder that affects the breast. Representative examples of non-neoplastic disorders include fibrocystic disease, gynecomastia, and mastitis. Representative examples of neoplastic disorders include fibroadenoma, lobular neoplasia, carcinoma, lymphoma, and sarcoma.|NCI|N|
C0006152|Enlargement of the breast due to increased fluid volume.|NCI|N|
C0006157|A position of the fetus at delivery in which the fetus enters the birth canal with the buttocks or feet first.|HPO|N|
C0006160|A tumor composed of solid and cystic nests of neoplastic urothelial-type cells in an abundant stromal component that is dense and fibroblastic in nature. It arises from the ovary and very rarely the paratesticular structures. It includes benign Brenner tumor, borderline Brenner tumor, and malignant Brenner tumor.|NCI|N|
C0006181|A delayed relapse of epidemic typhus, caused by Rickettsia prowazekii.|MONDO|N|
C0006261|A disease involving the bronchus.|MONDO|N|
C0006262|An abnormal communication between the bronchus and another organ or anatomic site.|NCI|N|
C0006264|A tumor originating in a bronchus.|HPO|N|
C0006266|Sudden contraction of the smooth muscles of the bronchial wall.|NCI|N|
C0006267|Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways.|HPO|N|
C0006271|Inflammation of the bronchioles.|HPO|N|
C0006272|Inflammation and fibrosis of the bronchioles leading to partial or complete obstruction of these airways.|HPO|N|
C0006274|An acute inflammatory disease of the lower RESPIRATORY TRACT, caused by paramyxoviruses, occurring primarily in infants and young children; the viruses most commonly implicated are PARAINFLUENZA VIRUS TYPE 3; RESPIRATORY SYNCYTIAL VIRUS, HUMAN; and METAPNEUMOVIRUS.|MSH|N|
C0006277|Inflammation of the large airways in the lung including any part of the bronchi from the primary bronchi to the tertiary bronchi.|HPO|N|
C0006281|A rare congenital cystic lesion of the lungs in the mediastinum.|HPO|N|
C0006285|Acute inflammation of the walls of the terminal bronchioles that spreads into the peribronchial alveoli and alveolar ducts. It results in the creation of foci of consolidation, which are surrounded by normal parenchyma. It affects one or more lobes, and is frequently bilateral and basal. It is usually caused by bacteria (e.g., Staphylococcus, Streptococcus, Haemophilus influenzae). Signs and symptoms include fever, cough with production of brown-red sputum, dyspnea, and chest pain.|NCI|N|
C0006287|Bronchopulmonary dysplasia is a chronic respiratory disease that results from complications related to lung injury during the treatment of infant acute respiratory distress syndrome (see these terms) in low-birth-weight premature infants or from abnormal lung development in older infants. Clinical signs are tachypnea, tachycardia and signs of respiratory distress such as intercostal recession, grunting and nasal flaring.|ORDO|N|
C0006288|A rare congenital abnormality of the lungs. It consists of a mass of lung parenchyma that does not communicate with the bronchial tree and receives its blood supply from the systemic circulation instead of the pulmonary circulation.|NCI|N|
C0006309|Brucellosis is an anthropozoonotic infection, endemic in the Mediterranean region, the Middle East, Latin America and parts of Asia and Africa, that is caused by gram-negative coccobacilli of the genus <i>Brucella</i> transmitted through consumption of unpasteurized dairy products or through direct contact with infected animals, placentas or aborted fetuses. Brucellosis is characterized by fever, fatigue, malaise, headache, anorexia, weight loss, sweating, osteomuscular pain (joint and lumbar pain), and arthritis.|ORDO|N|
C0006325|Bruxism is characterized by the grinding of the teeth including the clenching of the jaw and typically occur during sleep, but also can occur while the affected individual is awake.|HPO|N|
C0006370|A form of anomalous eating behavior characterized by binge eating is followed by self-induced vomiting or other compensatory behavior intended to prevent weight gain (purging, fasting or exercising or a combination of these).|HPO|N|
C0006384|Block of conduction of electrical impulses along the Bundle of His or along one of its bundle branches.|HPO|N|
C0006396|Virus diseases caused by the BUNYAVIRIDAE.|MSH|N|
C0006413|Burkitt lymphoma is a rare, aggressive B-cell lymphoma that accounts for 30 to 50% of lymphomas in children but only 1 to 2% of lymphomas in adults (Harris and Horning, 2006). It results from chromosomal translocations that involve the MYC gene (190080) and either the lambda or the kappa light chain immunoglobulin genes (147220, 147200). Burkitt lymphoma is causally related to the Epstein-Barr virus (EBV), although the pathogenetic mechanisms are not clear.|OMIM|N|
C0006430|A rare neurologic disease characterized by an unremitting bilateral symmetrical burning sensation of the oral mucosa without clinical evidence of causative lesions. It most frequently occurs in postmenopausal women and typically affects the tongue, less often the palate, lips, or buccal mucosa. It is often associated with dysgeusia and xerostomia.|ORDO|N|
C0006433|An excessive stress reaction to one''s occupational or professional environment. It may be characterized by feelings of emotional and physical exhaustion, coupled with a sense of frustration and failure.|MSH|N|
C0006444|Inflammation of a synovial bursa.|HPO|N|
C0006542|An occupational lung disorder caused by exposure to cotton dust. It occurs more commonly in workers in the textile industry. Signs and symptoms include chest tightness, cough and wheezing. The symptoms tend to get worse at the beginning of the week and subside by the end of the week.|NCI|N|
C0006625|Severe weight loss, wasting of muscle, loss of appetite, and general debility related to a chronic disease.|HPO|N|
C0006663|Formation of calcium deposits in any soft tissue.|HPO|N|
C0006664|Deposition of calcium in the skin.|HPO|N|
C0006666|A rare vascular calcification disorder typically characterized by occlusion of microvessels in the cutaneous tissue resulting in painful cutaneous lesions. The disorder is often life-limiting.|ORDO|N|
C0006705|Disorders in the processing of calcium in the body: its absorption, transport, storage, and utilization.|MONDO|N|
C0006818|Infections with bacteria of the genus campylobacter.|MONDO|N|
C0006826|A neoplasm composed of atypical neoplastic, often pleomorphic cells that invade other tissues. Malignant neoplasms often metastasize to distant anatomic sites and may recur after excision. The most common malignant neoplasms are carcinomas, Hodgkin and non-Hodgkin lymphomas, leukemias, melanomas, and sarcomas.|NCI|N|
C0006840|Infection with the organism Candida.|NCI|N|
C0006845|Recurrent or persistent superficial Candida infections of the skin, mucous membranes, and nails.|HPO|N|
C0006846|Candidiasis of the skin manifested as eczema-like lesions of the interdigital spaces, perleche, or chronic paronychia. (Dorland, 27th ed)|MONDO|N|
C0006848|A fungal infection of the skin, nails, oral and vaginal mucosal sites caused by species of the genus Candida. It manifests with white discoloration of the tongue and swelling, redness, and tenderness of the nails.|NCI|N|
C0006849|Infection of the mucosal lining of the mouth with the fungus Candida albicans.|NCI|N|
C0006870|Physical and psychological dependence on the drug cannabis.|NCI|N|
C0006895|A rare neuropsychiatric disorder whose primary feature is the delusion that relatives or close acquaintances are not the persons that they are known to be. Visual recognition appears intact but familiar persons are thought be imposters, that is, they appear similar or identical to known individuals but are not. Most cases are seen in the context of a psychotic state. However, if manifested post-traumatically, the cause is most likely due to neurologic impairment. This disorder should be contrasted with prosopagnosia, in which an individual may not recognize a familiar person at all.|NCI|N|
C0006897|A infectious disease involving the Capillaria.|MONDO|N|
C0006905|Reduced resistance to rupture of capillary blood vessels. Capillary fragility may manifest as a bleeding diathesis with spontaneous ecchymoses (bruises).|HPO|N|
C0006915|A combination of rheumatoid arthritis (RA) and pneumoconiosis that manifests as intrapulmonary nodules, which appear homogenous and well-defined on chest X-ray.|MONDO|N|
C0007001|An inherited metabolic disease that is has its basis in the disruption of carbohydrate metabolic process.|MONDO|N|
C0007078|A pustular lesion of the skin emerging from group of infected hair follicles, characterized by a deep location and dissecting through tissue planes. A carbuncle is larger and deeper than a furuncle.|HPO|N|
C0007093|Cardiac manifestation of gastrointestinal CARCINOID TUMOR that metastasizes to the liver. Substances secreted by the tumor cells, including SEROTONIN, promote fibrous plaque formation in ENDOCARDIUM and its underlying layers. These deposits cause distortion of the TRICUSPID VALVE and the PULMONARY VALVE eventually leading to STENOSIS and valve regurgitation.|MONDO|N|
C0007095|A tumor formed from the endocrine (argentaffin) cells of the mucosal lining of a variety of organs including the stomach and intestine. These cells are from neuroectodermal origin.|HPO|N|
C0007097|A malignant tumor arising from epithelial cells. Carcinomas that arise from glandular epithelium are called adenocarcinomas, those that arise from squamous epithelium are called squamous cell carcinomas, and those that arise from transitional epithelium are called transitional cell carcinomas (NCI Thesaurus).|HPO|N|
C0007098|A transplantable carcinoma of the rat that originally appeared spontaneously in the mammary gland of a pregnant albino rat, and which now resembles a carcinoma in young transplants and a sarcoma in older transplants. (Stedman, 25th ed)|MSH|N|
C0007099|A malignant epithelial neoplasm which is confined to the epithelial layer without evidence of further tissue invasion.|NCI|N|
C0007102|A primary or metastatic malignant neoplasm that affects the colon. Representative examples include carcinoma, lymphoma, and sarcoma.|NCI|N|
C0007103|Primary or metastatic malignant neoplasm involving the endometrium (mucous membrane that lines the endometrial cavity).|NCI|N|
C0007104|A carcinoma that arises from the breast in females. It is the most common malignant tumor that affects females.|NCI|N|
C0007107|A primary or metastatic malignant neoplasm involving the larynx. The majority are carcinomas.|NCI|N|
C0007112|An adenocarcinoma arising from the prostate gland. It is one of the most common malignant tumors afflicting men. The majority of adenocarcinomas arise in the peripheral zone and a minority occurs in the central or the transitional zone of the prostate gland. Grading of prostatic adenocarcinoma predicts disease progression and correlates with survival. Several grading systems have been proposed, of which the Gleason system is the most commonly used. Gleason sums of 2 to 4 represent well-differentiated disease, 5 to 7 moderately differentiated disease and 8 to 10 poorly differentiated disease. Prostatic-specific antigen (PSA) serum test is widely used as a screening test for the early detection of prostatic adenocarcinoma. Treatment options include radical prostatectomy, radiation therapy, androgen ablation and cryotherapy. Watchful waiting or surveillance alone is an option for older patients with low-grade or low-stage disease.|NCI|N|
C0007113|A malignant epithelial neoplasm that arises from the rectum. The vast majority are adenocarcinomas.|NCI|N|
C0007114|A primary or metastatic malignant neoplasm involving the skin. Primary malignant skin neoplasms most often are carcinomas (either basal cell or squamous cell carcinomas) or melanomas. Metastatic malignant neoplasms to the skin include carcinomas and lymphomas.|NCI|N|
C0007115|A primary or metastatic malignant neoplasm affecting the thyroid gland.|NCI|N|
C0007117|A carcinoma involving the basal cells.|NCI|N|
C0007118|A basal cell carcinoma which displays squamous differentiation. The neoplastic cells have more abundant cytoplasm with more marked keratinization than typical basal cell carcinomas. It usually has a more aggressive clinical course compared to typical basal cell carcinoma, and it may produce regional or widespread metastases.|NCI|N|
C0007120|Adenocarcinoma of the Bronchus.|HPO|N|
C0007121|A lung carcinoma arising from the bronchial epithelium.|NCI|N|
C0007122|A transplantable EPITHELIAL CELL neoplasm of rabbits.|MSH|N|
C0007124|Presence of abnormal cells inside a milk duct, that is, non-invasive breast cancer. Ductal carcinoma in situ is considered to be a precursor lesion to invasive breast cancer.|HPO|N|
C0007125|A transplantable, poorly differentiated malignant tumor which appeared originally as a spontaneous breast carcinoma in a mouse. It grows in both solid and ascitic forms.|MONDO|N|
C0007128|Carcinoma having known association to krebs2 gene mutation|MONDO|N|
C0007129|A malignant cutaneous tumor of the elderly that is characterized by an aggressive course with regional nodal involvement, distant metastases and a high rate of recurrence. Most patients present with rapidly growing, painless, firm, non-tender, dome-shaped red, occasionally ulcerated skin nodules, which have a red or bluish color, measuring up to several centimeters, on predominantly sun-exposed areas of the body. The overlying skin is smooth and shiny, sometimes exhibiting ulcerative, acneiform or telangiectatic features.|HPO|N|
C0007130|An invasive adenocarcinoma composed of malignant glandular cells which contain intracytoplasmic mucin. Often, the infiltrating glandular structures are associated with mucoid stromal formation. It may arise from the large and small intestine, appendix, stomach, lung, ovary, breast, corpus uteri, cervix, vagina, and salivary gland.|NCI|N|
C0007131|A group of at least three distinct histological types of lung cancer, including non-small cell squamous cell carcinoma, adenocarcinoma, and large cell carcinoma. Non-small cell lung carcinomas have a poor response to conventional chemotherapy.|NCI|N|
C0007133|A malignant epithelial neoplasm characterized by a papillary growth pattern. A papillary carcinoma may be composed of glandular cells (papillary adenocarcinoma), squamous cells (papillary squamous cell carcinoma), or transitional cells (papillary transitional cell carcinoma). Bladder carcinoma is a representative example of papillary transitional cell carcinoma.|NCI|N|
C0007134|A type of carcinoma of the kidney with origin in the epithelium of the proximal convoluted renal tubule.|HPO|N|
C0007135|An infiltrating adenocarcinoma characterized by the presence of desmoplastic stromal reaction.|NCI|N|
C0007137|The presence of squamous cell carcinoma of the skin.|HPO|N|
C0007138|A malignant neoplasm arising from the transitional epithelium, usually affecting the urinary bladder, ureter, or renal pelvis. It may or may not have a papillary configuration. It is graded 1 to 3 or 4 according to the degree of cellular differentiation and architectural patterns. Grade 1 transitional cell carcinoma is histologically benign but it may recur. Transitional cell carcinomas may also affect the upper respiratory tract and the ovaries.|NCI|N|
C0007140|A malignant tumor composed of a mixture of carcinomatous and sarcomatous elements.|NCI|N|
C0007166|A decreased volume of blood pumped by the left and right ventricle, per unit time. Cardiac output (CO) is the product of the heart rate (HR), i.e. the number of heartbeats per minute (bpm), and the stroke volume (SV), which is the volume of blood pumped from the ventricle per beat.|HPO|N|
C0007177|The accumulation of pericardial fluid with subsequent compression of all cardiac chambers which prevents cardiac filling.|HPO|N|
C0007192|A dilated cardiomyopathy which is associated with consumption of large amounts of alcohol over a period of years.|NCI|N|
C0007193|Familial dilated cardiomyopathy is a genetic form of heart disease. It occurs when heart (cardiac) muscle becomes thin and weakened in at least one chamber of the heart, causing the open area of the chamber to become enlarged (dilated). As a result, the heart is unable to pump blood as efficiently as usual. To compensate, the heart attempts to increase the amount of blood being pumped through the heart, leading to further thinning and weakening of the cardiac muscle. Over time, this condition results in heart failure.\n\nIt usually takes many years for symptoms of familial dilated cardiomyopathy to cause health problems. They typically begin in mid-adulthood, but can occur at any time from infancy to late adulthood. Signs and symptoms of familial dilated cardiomyopathy can include an irregular heartbeat (arrhythmia), shortness of breath (dyspnea), extreme tiredness (fatigue), fainting episodes (syncope), and swelling of the legs and feet. In some cases, the first sign of the disorder is sudden cardiac death. The severity of the condition varies among affected individuals, even in members of the same family.|MedlinePlus Genetics|N|
C0007194|Hypertrophic cardiomyopathy (HCM) is defined by the presence of increased ventricular wall thickness or mass in the absence of loading conditions (hypertension, valve disease) sufficient to cause the observed abnormality.|HPO|N|
C0007196|Restrictive left ventricular physiology is characterized by a pattern of ventricular filling in which increased stiffness of the myocardium causes ventricular pressure to rise precipitously with only small increases in volume, defined as restrictive ventricular physiology in the presence of normal or reduced diastolic volumes (of one or both ventricles), normal or reduced systolic volumes, and normal ventricular wall thickness.|HPO|N|
C0007222|A non-neoplastic or neoplastic disorder affecting the heart or the vessels (arteries, veins and lymph vessels). Representative examples of non-neoplastic cardiovascular disorders are endocarditis and hypertension. Representative examples of neoplastic cardiovascular disorders are endocardial myxoma and angiosarcoma.|NCI|N|
C0007273|A non-neoplastic or neoplastic disorder affecting the carotid artery.|NCI|N|
C0007274|Blood clot formation in any part of the carotid arteries. This may produce carotid stenosis or occlusion of the vessel, leading to transient ischemic attack; cerebral infarction; or amaurosis fugax.|MONDO|N|
C0007279|Pheochromocytoma/paraganglioma syndrome-1 (PPGL1) is an autosomal dominant disorder characterized by the development of neuroendocrine tumors, usually in adulthood. Pheochromocytomas arise from chromaffin cells in the adrenal medulla, whereas paragangliomas arise in extra-adrenal sympathetic ganglia in the thorax, abdomen, and pelvis or from parasympathetic paraganglia in the head and neck area (summary by Cascon et al., 2023).
Paragangliomas, also referred to as 'glomus body tumors,' are tumors derived from paraganglia located throughout the body. Nonchromaffin types primarily serve as chemoreceptors (hence, the tumor name 'chemodectomas') and are located in the head and neck region (i.e., carotid body, jugular, vagal, and tympanic regions), whereas chromaffin types have endocrine activity, conventionally referred to as 'pheochromocytomas,' and are usually located below the head and neck (i.e., adrenal medulla and pre- and paravertebral thoracoabdominal regions). PPGL can manifest as nonchromaffin head and neck tumors only, adrenal and/or extraadrenal pheochromocytomas only, or a combination of the 2 types of tumors (Baysal, 2002; Neumann et al., 2004).
The triad of gastric leiomyosarcoma, pulmonary chondroma, and extraadrenal paraganglioma constitutes a syndrome that occurs mainly in young women and is known as the Carney triad (604287). This triad is not to be confused with the other Carney syndrome of myxoma, spotty pigmentation, and endocrinopathy (160980).
Baysal (2008) provided a review of the molecular pathogenesis of hereditary paraganglioma.
Genetic Heterogeneity of Pheochromocytoma/Paraganglioma Syndrome
See also PPGL2 (601650), caused by mutation in the SDHAF2 gene (613019) on chromosome 11q13; PPGL3 (605373), caused by mutation in the SDHC gene (602413) on chromosome 1q21; PPGL4 (115310), caused by mutation in the SDHB gene (185470) on chromosome 1p36; PPGL5 (614165), caused by mutation in the SDHA gene (600857) on chromosome 5p15; PPGL6 (618464), caused by mutation in the SLC25A11 gene (604165) on chromosome 17p13; and PPGL7 (618475), caused by mutation in the DLST gene (126063) on chromosome 14q24.|OMIM|N|
C0007280|An innocent murmur with a medium pitched, harsh character heard at the right or left upper sternal border, supraclavicular region, or anterior portion of the lower neck that disappears with bilateral shoulder hyperextension. (ACC-AHA)|NCI|N|
C0007282|Narrowing of the carotid arteries.|HPO|N|
C0007286|Carpal tunnel syndrome is a disorder caused by disturbances in nerve function (neuropathy), leading to pain and numbness or tingling (paresthesia) primarily in the wrist and hand. While carpal tunnel syndrome can occur at any age, it most often affects people between the ages of 40 and 60. In more than half of cases, both hands are affected; however, the severity may vary between hands. When only one hand is affected, it is most often the hand used for writing (the dominant hand).\n\nIn carpal tunnel syndrome, the pain or paresthesia is usually felt in the wrist, the palm, and the first four fingers of the hand. These signs and symptoms often develop during sleep and are noticeable upon waking. Affected individuals typically shake their hand to get rid of the pain and numbness, a characteristic move known as the flick sign. As the condition advances, the signs and symptoms begin to occur during the day as well. Affected individuals may have difficulty performing manual tasks such as turning doorknobs, fastening buttons, or opening jars. The symptoms of carpal tunnel syndrome may be triggered by certain activities that flex or extend the wrist, such as driving, typing, or holding a telephone.\n\nOver time, people with carpal tunnel syndrome can have muscle and nerve wasting (atrophy) in the affected hand and a reduced ability to detect sensations, which can be mistaken for an improvement of symptoms.|MedlinePlus Genetics|N|
C0007294|An individual who carries an inheritable genetic mutation without manifestation of the associated condition.|NCI|N|
C0007297|A sensation of discomfort associated with ground travel; symptoms may include nausea, vomiting, dizziness or sweating.|NCI|N|
C0007302|Pathological processes involving the chondral tissue (CARTILAGE).|MSH|N|
C0007350|Diseases of the domestic cat (Felis catus or F. domesticus). This term does not include diseases of the so-called big cats such as CHEETAHS; LIONS; tigers, cougars, panthers, leopards, and other Felidae for which the heading CARNIVORA is used.|MSH|N|
C0007361|Cat-scratch disease is a rare infectious disease, caused by the Gram-negative bacteria <i>Bartonella henselae</i>, that is transmitted to humans via a scratch or bite of an infected cat and that has a variable clinical presentation but that usually manifests with an erythematous papule at the site of inoculation followed by chronic regional lymphadenopathy. Clinical course is usually self-limiting but disseminated illness with high fever, hepatosplenomegaly, granulomatous osteolytic lesions, encephalitis, retinitis, and atypical pneumonia can also occur. Cat-scratch disease can atypically present as parinaud oculoglandular syndrome (unilateral conjunctivitis and preauricular lymphadenopathy).|ORDO|N|
C0007370|A nervous system disorder characterized by diminished responsiveness and consciousness, and rigidity of the body.|NCI|N|
C0007384|A sudden and transient episode of bilateral loss of muscle tone, often triggered by emotions.|HPO|N|
C0007397|An acute or prolonged illness usually considered to be life-threatening or with the threat of serious residual disability. Treatment may be radical and is frequently costly.|MSH|N|
C0007398|A psychiatric disorder featuring stupor, posturing, and echophenomena.|MONDO|N|
C0007453|Diseases of domestic cattle of the genus Bos. It includes diseases of cows, yaks, and zebus.|MSH|N|
C0007459|A rare neurologic disorder caused by impingement of the nerve roots of the cauda equina secondary to disc herniation, spinal stenosis, vertebral fracture, neoplasm or infection. Clinical signs may include bladder or bowel dysfunction, paresthesia and weakness of the lower extremities. The development of neurogenic bladder implies that surgical decompression was either ineffective, delayed or not attempted.|NCI|N|
C0007462|Complex regional pain syndrome type 2 (CRPS2), or causalgia is a form of complex regional pain syndrome that develops after damage to a peripheral nerve and is characterized by spontaneous pain, allodynia and hyperalgesia , not necessarily limited to the territory of the injured nerve, as well as at some point, edema, changes in skin blood flow or sudomotor dysfunction in the pain area.|ORDO|N|
C0007465|The circumstance or condition that results in the death of a living being.|NCI|N|
C0007527|Pathological developments in the cecum.|MONDO|N|
C0007528|A benign or malignant neoplasm that affects the cecum. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma. Cecal adenomas always exhibit epithelial dysplasia and are considered premalignant neoplasms.|NCI|N|
C0007570|Celiac disease is a systemic autoimmune disease that can be associated with gastrointestinal findings (diarrhea, malabsorption, abdominal pain and distension, bloating, vomiting, and weight loss) and/or highly variable non-gastrointestinal findings (dermatitis herpetiformis, chronic fatigue, joint pain/inflammation, iron deficiency anemia, migraines, depression, attention-deficit disorder, epilepsy, osteoporosis/osteopenia, infertility and/or recurrent fetal loss, vitamin deficiencies, short stature, failure to thrive, delayed puberty, dental enamel defects, and autoimmune disorders). Classic celiac disease, characterized by mild to severe gastrointestinal symptoms, is less common than non-classic celiac disease, characterized by absence of gastrointestinal symptoms.|GeneReviews|N|
C0007621|A pathologic process that involves the transformation of normal cells to a neoplastic state and resulting in polyclonal or monoclonal neoplastic cell proliferation.|NCI|N|
C0007642|A bacterial infection and inflammation of the skin und subcutaneous tissues.|HPO|N|
C0007646|Cellulitis of the hand.|NCI|N|
C0007659|An odontogenic tumor of the cementum of tooth.|HPO|N|
C0007682|A non-neoplastic or neoplastic disorder which affects the brain and/or spinal cord.|NCI|N|
C0007684|An infectious process that affects the brain and/or spinal cord. Representative examples include encephalitis, poliomyelitis, arachnoiditis, and meningitis.|NCI|N|
C0007686|Clouding of the middle area of the cornea, usually as a result of scarring due to Infection, injury, or inflammation.|NCI|N|
C0007688|Blockage of the main artery in the retina. The typical presentation is one of profound monocular visual loss.|HPO|N|
C0007722|Hemorrhage between the skull and periosteum of a newborn resulting from rupture of blood vessels that cross the periosteum.|HPO|N|
C0007758|Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).|HPO|N|
C0007760|Diseases that affect the structure or function of the cerebellum. Cardinal manifestations of cerebellar dysfunction include dysmetria, gait ataxia, and muscle hypotonia.|MONDO|N|
C0007761|A condition marked by progressive CEREBELLAR ATAXIA combined with MYOCLONUS usually presenting in the third decade of life or later. Additional clinical features may include generalized and focal SEIZURES, spasticity, and DYSKINESIAS. Autosomal recessive and autosomal dominant patterns of inheritance have been reported. Pathologically, the dentate nucleus and brachium conjunctivum of the CEREBELLUM are atrophic, with variable involvement of the spinal cord, cerebellar cortex, and basal ganglia. (From Joynt, Clinical Neurology, 1991, Ch37, pp60-1)|MSH|N|
C0007762|A benign or malignant (primary or metastatic) tumor involving the cerebellum.|NCI|N|
C0007766|A congenital or acquired aneurysm within the cranium.|NCI|N|
C0007771|Vascular diseases characterized by thickening and hardening of the walls of arteries inside the skull. There are three subtypes: (1) atherosclerosis with fatty deposits in the arterial intima; (2) Monckeberg's sclerosis with calcium deposits in the media and (3) arteriolosclerosis involving the small caliber arteries. Clinical signs include headache; confusion; transient blindness (amaurosis fugax); speech impairment; and hemiparesis.|MONDO|N|
C0007772|Congenital vascular anomalies in the brain characterized by direct communication between an artery and a vein without passing through the CAPILLARIES. The locations and size of the shunts determine the symptoms including HEADACHES; SEIZURES; STROKE; INTRACRANIAL HEMORRHAGES; mass effect; and vascular steal effect.|MSH|N|
C0007773|An inflammatory disease involving a pathogenic inflammatory response in the cerebral artery.|MONDO|N|
C0007774|Pathological conditions of intracranial arteries supplying the cerebrum. These diseases often are due to abnormalities or pathological processes in the anterior cerebral artery; middle cerebral artery; and posterior cerebral artery.|MONDO|N|
C0007775|Atherosclerosis of the cerebral vasculature.|NCI|N|
C0007781|Embolism or thrombosis involving blood vessels which supply intracranial structures. Emboli may originate from extracranial or intracranial sources. Thrombosis may occur in arterial or venous structures.|MSH|N|
C0007785|A necrotic lesion in the cerebrum resulting from a sudden insufficiency of arterial or venous blood supply due to emboli, thrombi or mechanical factors.|HPO|N|
C0007786|Localized reduction of blood flow to brain tissue due to arterial obstruction or systemic hypoperfusion. This frequently occurs in conjunction with brain hypoxia (HYPOXIA, BRAIN). Prolonged ischemia is associated with BRAIN INFARCTION.|MSH|N|
C0007787|A brief attack (from a few minutes to an hour) of cerebral dysfunction of vascular origin, with no persistent neurological deficit.|NCI|N|
C0007789|Cerebral palsy describes a group of permanent disorders of the development of movement and posture, causing activity limitation, that are attributed to nonprogressive disturbances that occurred in the developing fetal or infant brain. The motor disorders of cerebral palsy are often accompanied by disturbances of sensation, perception, cognition, communication, and behavior, by epilepsy, and by secondary musculoskeletal problems.|HPO|N|
C0007795|Schilder's disease is a progressive demyelinating disorder of the central nervous system.|ORDO|N|
C0007798|A neoplasm that involves a brain ventricle. It may be a primary neoplasm arising from a brain ventricle, a metastasis from a distant anatomic site, or an extension of an invasive neoplasm from an adjacent brain structure.|NCI|N|
C0007814|Discharge of cerebrospinal fluid through the ear structures.|NCI|N|
C0007815|Drainage of cerebrospinal fluid through the nose. This can occur when there is a fistula between the dura and the skull base and discharge of cerebrospinal fluid (CSF) from the nose.|HPO|N|
C0007820|A disorder resulting from inadequate blood flow in the vessels that supply the brain. Representative examples include cerebrovascular ischemia, cerebral embolism, and cerebral infarction.|NCI|N|
C0007847|A primary or metastatic malignant neoplasm involving the cervix.|NCI|N|
C0007855|Abnormal growth of tissue projecting from a mucous membrane of the endocervix.|HPO|N|
C0007856|Thoracic outlet syndrome, either nerve or vessel compression, due to a cervical rib.|SNOMEDCT_US|N|
C0007859|An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the neck.|HPO|N|
C0007860|Inflammation of the uterine cervix.|HPO|N|
C0007863|A distinct type of headache characterized by piercing, throbbing, or electric-shock-like chronic pain in the upper neck, back of the head, and behind the ears, usually on one side.|HPO|N|
C0007867|A non-neoplastic or neoplastic disorder that affects the cervix. Representative examples include cervicitis, endocervical polyp, and carcinoma.|NCI|N|
C0007868|Cervical dysplasia is the precursor to cervical cancer. It is caused by the persistent infection of the human papillomavirus (HPV) into the cervical tissue. Affected cells develop morphologic features with immature basaloid- type squamous cells and mitotic figures in the upper half of the cervical epithelium.|HPO|N|
C0007869|Loss or destruction of the epithelial lining of the UTERINE CERVIX.|MSH|N|
C0007871|A cervix that shows a painless dilation and shortening during the second trimester of pregnancy with resultant recurrent pregnancy loss or delivery is considered incompetent|HPO|N|
C0007873|A tumor (abnormal growth of tissue) of the uterine cervix.|HPO|N|
C0007876|Delivery of a fetus through surgical incisions made through the abdominal wall (laparotomy) and the uterine wall (hysterotomy).|HPO|N|
C0007894|Infections with true tapeworms of the helminth subclass CESTODA.|MSH|N|
C0007930|A dilated cardiomyopathy caused by the protozoan Trypanosoma cruzi. Patients may present with heart block, congestive heart failure, or anginal symptoms.|NCI|N|
C0007933|A chronic epithelioid cell granulomatous inflammation of the meibomian gland caused by inflammation of a blocked meibomian gland. A chalazion or meibomian cyst appears as a painless tuberous swelling in the upper lid without loss of eyelashes.|HPO|N|
C0007939|The primary sore of syphilis, a painless indurated, eroded papule, occurring at the site of entry of the infection.|MSH|N|
C0007947|Chancroid is a bacterial infection that is spread through sexual contact. It is caused by a type of bacteria called Haemophilus ducreyi. Chancroid is characterized by a small bump on the genital which becomes a painful ulcer. Men may have just one ulcer, but women often develop four or more.About half of the people who are infected with a chancroid will develop enlarged inguinal lymph nodes, the nodes located in the fold between the leg and the lower abdomen. In some cases, the nodes will break through the skin and cause draining abscesses. The swollen lymph nodes and abscesses are often called buboes. Chancroid infections can be treated with antibiotics, including azithromycin, ceftriaxone, ciprofloxacin, and erythromycin. Large lymph node swellings need to be drained, either with a needle or local surgery.|MONDO|N|
C0007959|Charcot-Marie-Tooth disease encompasses a group of disorders called hereditary sensory and motor neuropathies that damage the peripheral nerves. Peripheral nerves connect the brain and spinal cord to muscles and to sensory cells that detect sensations such as touch, pain, heat, and sound. Damage to the peripheral nerves that worsens over time can result in alteration or loss of sensation and wasting (atrophy) of muscles in the feet, legs, and hands.\n\nCharcot-Marie-Tooth disease usually becomes apparent in adolescence or early adulthood, but onset may occur anytime from early childhood through late adulthood. Symptoms of Charcot-Marie-Tooth disease vary in severity and age of onset even among members of the same family. Some people never realize they have the disorder because their symptoms are so mild, but most have a moderate amount of physical disability. A small percentage of people experience severe weakness or other problems which, in very rare cases, can be life-threatening. In most affected individuals, however, Charcot-Marie-Tooth disease does not affect life expectancy.\n\nTypically, the earliest symptoms of Charcot-Marie-Tooth disease result from muscle atrophy in the feet. Affected individuals may have foot abnormalities such as high arches (pes cavus), flat feet (pes planus), or curled toes (hammer toes). They often have difficulty flexing the foot or walking on the heel of the foot. These difficulties may cause a higher than normal step (steppage gait) and increase the risk of ankle injuries and tripping. As the disease worsens, muscles in the lower legs usually weaken, but leg and foot problems rarely require the use of a wheelchair.\n\nAffected individuals may also develop weakness in the hands, causing difficulty with daily activities such as writing, fastening buttons, and turning doorknobs. People with Charcot-Marie-Tooth disease typically experience a decreased sensitivity to touch, heat, and cold in the feet and lower legs, but occasionally feel aching or burning sensations. In rare cases, affected individuals have loss of vision or gradual hearing loss that sometimes leads to deafness.\n\nThere are several types of Charcot-Marie-Tooth disease, which are differentiated by their effects on nerve cells and patterns of inheritance. Type 1 (CMT1) is characterized by abnormalities in myelin, the fatty substance that covers nerve cells, protecting them and helping to transmit nerve impulses. These abnormalities slow the transmission of nerve impulses and can affect the health of the nerve fiber. Type 2 (CMT2) is characterized by abnormalities in the fiber, or axon, that extends from a nerve cell body to muscles or to sense organs. These abnormalities reduce the strength of the nerve impulse. People with CMT2 may develop amyotrophic lateral sclerosis (ALS), a condition characterized by progressive muscle weakness, a loss of muscle mass, and an inability to control movement.In forms of Charcot-Marie-Tooth disease classified as intermediate type, the nerve impulses are both slowed and reduced in strength, probably due to abnormalities in both myelin and axons. Type 4 (CMT4) is distinguished from the other types by its pattern of inheritance; it can affect either the axons or the myelin. Type X Charcot-Marie-Tooth disease (CMTX) is caused by mutations in genes on the X chromosome, one of the two sex chromosomes. Within the various types of Charcot-Marie-Tooth disease, subtypes (such as CMT1A, CMT1B, CMT2A, CMT4A, and CMTX1) indicate different genetic causes.\n\nSometimes other, historical names are used to refer to particular forms of  Charcot-Marie-Tooth disease. For example, Roussy-Levy syndrome is a form of CMT11 with the additional feature of rhythmic shaking (tremors).  Dejerine-Sottas syndrome is a term sometimes used to describe a severe, early childhood form of Charcot-Marie-Tooth disease; it is also sometimes called type 3 (CMT3). Depending on the specific gene that is altered, this severe, early-onset form of the disorder may also be classified as CMT1 or CMT4. CMTX5 is also known as Rosenberg-Chutorian syndrome.|MedlinePlus Genetics|N|
C0007965|Chediak-Higashi syndrome (CHS) is characterized by partial oculocutaneous albinism, immunodeficiency, and a mild bleeding tendency. Approximately 85% of affected individuals develop the accelerated phase, or hemophagocytic lymphohistiocytosis, a life-threatening, hyperinflammatory condition. All affected individuals including adolescents and adults with atypical CHS and children with classic CHS who have successfully undergone allogenic hematopoietic stem cell transplantation (HSCT) develop neurologic findings during early adulthood.|GeneReviews|N|
C0007971|Inflammation of the lip.|HPO|N|
C0007994|Used for biological phenomena, diseases, syndromes, congenital abnormalities, or symptoms caused by endogenous or exogenous substances.|MSH|N|
C0008029|Cherubism is a childhood-onset, autoinflammatory bone disease characterized by bilateral and symmetric proliferative fibroosseous lesions limited to the mandible and maxilla. The enlargement is usually symmetric in nature. The phenotype ranges from no clinical manifestations to severe mandibular and maxillary overgrowth with respiratory, vision, speech, and swallowing problems. In most affected persons, teeth are displaced, unerupted, unformed, or absent, or may appear to be floating in cystlike spaces; malocclusion, premature exfoliation of deciduous teeth, and root resorption have also been reported. The course and duration of the active process of bone destruction varies between affected individuals; the onset is usually in early childhood, and typically new lesions can occur until puberty. Regression of the lesions occurs as they become filled with bone and remodel during the second and third decade of life. By age 30 years, the facial abnormalities associated with cherubism are not usually recognizable and residual deformity of the jaws is rare. Typically, cherubism is an isolated benign condition; the affected person has normal intellectual skills and is without other physical anomalies.|GeneReviews|N|
C0008031|An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the chest.|HPO|N|
C0008033|Pleuritic chest pain is characterized by sudden and intense sharp, stabbing, or burning pain in the chest when inhaling and exhaling.|HPO|N|
C0008039|An abnormal pattern of respiration characterized by cycles of respiration that are increasingly deeper then shallower with possible periods of apnea. Affected patients may display a 10 to 20 second episode of hypoventilation or apnea, followed by respiration of increased depth and frequency over the course of about one minute. The cycle repeats every 45 seconds to 3 minutes.|HPO|N|
C0008043|A POSTPARTUM condition consists of persistent lactation (GALACTORRHEA) and AMENORRHEA in patients not BREAST FEEDING.|MSH|N|
C0008049|A contagious childhood disorder caused by the varicella zoster virus. It is transmitted via respiratory secretions and contact with chickenpox blister contents. It presents with a vesicular skin rash, usually associated with fever, headache, and myalgias. The pruritic fluid-filled vesicles occur 10-21 days after exposure and last for 3-4 days. An additional 3-4 days of malaise follows before the affected individual feels better. An individual is contagious 1-2 days prior to the appearance of the blisters until all blisters are crusted over. Generally, healthy individuals recover without complications.|NCI|N|
C0008055|A rare infectious disease characterized by acute onset of high fever associated with debilitating polyarthralgia and usually accompanied by an erythematous skin rash (that may progress to vesiculobullous lesions in children) caused by the mosquitoe-borne Chikungunya virus. Myalgia, severe headache, and lymphadenopathy are frequently associated. Chronically the disease may cause recurrent, long-term polyarthralgia, arthritis, fatigue, and depression.|ORDO|N|
C0008058|Chilblains, also called perniosis, are an inflammatory skin condition related to an abnormal vascular response to the cold. We are unaware of a reliable estimate of incidence. It typically presents as tender, pruritic red or bluish lesions located symmetrically on the dorsal aspect of the fingers, toes, ears and nose. Less commonly, reports describe involvement of the thighs and buttocks. The lesions present hours after exposure to cold and usually resolve spontaneously in one to three weeks.|HPO|N|
C0008060|Abuse of children in a family, institutional, or other setting. (APA, Thesaurus of Psychological Index Terms, 1994)|MSH|N|
C0008062|Sexual maltreatment of the child or minor.|MSH|N|
C0008066|Disturbances considered to be pathological based on age and stage appropriateness, e.g., conduct disturbances and anaclitic depression. This concept does not include psychoneuroses, psychoses, or personality disorders with fixed patterns.|MSH|N|
C0008073|A disorder diagnosed in childhood that is marked by either physical or mental impairment or both, which in turn affects the child from achieving age related developmental milestones.|NCI|N|
C0008074|Severe distortions in the development of many basic psychological functions that are not normal for any stage in development. These distortions are manifested in sustained social impairment, speech abnormalities, and peculiar motor movements.|MSH|N|
C0008087|Disorders caused by nutritional imbalance, either overnutrition or undernutrition, occurring in children ages 2 to 12 years.|MSH|N|
C0008090|Reactions to an event or set of events which are considered to be of pathological degree, that have not developed into a neurosis, psychosis, or personality disorder with fixed patterns.|MSH|N|
C0008149|An infection that is caused by Chlamydia trachomatis.|NCI|N|
C0008153|Infections with bacteria of the family CHLAMYDIACEAE.|MONDO|N|
C0008297|Absence or abnormal closure of the choana (the posterior nasal aperture). Most embryologists believe that posterior choanal atresia results from a failure of rupture between the 35th and 38th day of fetal life of the partition which separates the bucconasal or buccopharyngeal membranes. The resultant choanal atresia may be unilateral or bilateral, bony or membranous, complete or incomplete. In over 90 per cent of cases the obstruction is bony, while in the remainder it is membranous. The bony type of atresia is commonly located 1-2 mm. anterior to the posterior edge of the hard palate, and the osseous septum varies in thickness from 1 to 10 mm. In the membranous form of choanal atresia the obstruction usually occurs further posteriorly. In approximately one third of cases the atresia is bilateral.|HPO|N|
C0008298|A benign exophytic growth that arises from the nasopharynx.|NCI|N|
C0008301|Interference with respiration by compression or obstruction of the larynx or trachea.|NCI|N|
C0008309|A benign, well-demarcated polypoid neoplasm arising from the bile duct epithelium. According to the growth pattern, it is classified as tubular, papillary, or tubulopapillary. Adenomas arising from the extrahepatic bile ducts usually produce symptoms related to biliary obstruction.|NCI|N|
C0008311|Inflammation of the biliary ductal system, affecting the intrahepatic or extrahepatic portions, or both.|HPO|N|
C0008312|Primary biliary cirrhosis (PBC) is a chronic, progressive cholestatic liver disease that usually affects middle-aged women and eventually leads to liver failure (summary by Kaplan, 1996).
Genetic Heterogeneity of Primary Biliary Cirrhosis
Primary biliary cirrhosis-1 (PBC1) is significantly associated with SNPs at the IL12A locus (161560) on chromosome 3q25.33.
Significant association of PBC has also been shown with SNPs at the HLA-DQB1 locus (604305) on chromosome 6p21.3 (PBC2; 613007), at the IL12RB2 locus (601642) on chromosome 1p31.2 (PBC3; 613008), at the IRF5 (607218)-TNPO3 (610032) locus on chromosome 7q32 (PBC4; 614220), and at the ZPBP2 locus (608499) on chromosome 17q12-q21 (PBC5; 614221).
See also Reynolds syndrome (613471), in which primary biliary cirrhosis is a feature.|OMIM|N|
C0008313|Cholangitis associated with evident ductal fibrosis that develops as a consequence of long-standing bile duct inflammatory, obstruction, or ischemic injury; it can be obliterative or nonobliterative.|HPO|N|
C0008325|The presence of inflammatory changes in the gallbladder.|HPO|N|
C0008340|A rare biliary tract disease characterized by congenital fusiform or cystic dilatation of intra- and/or extrahepatic bile ducts. Females are much more often affected than males. Clinical signs and symptoms include abdominal pain, jaundice, presence of a palpable abdominal mass, nausea, vomiting, or fever. Depending on the age of the patient, the condition may be complicated by stone formation, hepatomegaly, rupture with subsequent bile peritonitis, cholangitis, cholecystitis, biliary strictures, pancreatitis, or secondary biliary cirrhosis. The risk of malignancy, particularly cholangiocarcinoma, is significantly increased.|ORDO|N|
C0008350|Hard, pebble-like deposits that form within the gallbladder.|HPO|N|
C0008354|Cholera is an infectious disease, caused by intestinal infection with <i>Vibrio cholerae</i>, characterized by massive watery diarrhea and severe dehydration that can lead to shock and death if left untreated.|ORDO|N|
C0008370|Impairment of bile flow due to obstruction in bile ducts.|HPO|N|
C0008372|Impairment of bile flow due to obstruction in the small bile ducts within the liver.|HPO|N|
C0008373|Cholesteatoma is a benign but potentially destructive growth consisting of keratinizing epithelium located in the middle ear and/or mastoid process. In cholesteatoma, a skin cyst grows into the middle ear and mastoid. The cyst is not cancerous but can erode tissue and cause destruction of the ear.|HPO|N|
C0008384|Deficiency of lysosomal acid lipase causes 2 distinct phenotypes in humans: Wolman disease (WOLD; 620151) and cholesteryl ester storage disease (CESD). WOLD is an early-onset fulminant disorder of infancy with massive infiltration of the liver, spleen, and other organs by macrophages filled with cholesteryl esters and triglycerides. Death occurs early in life. CESD is a milder, later-onset disorder with primary hepatic involvement by macrophages engorged with cholesteryl esters. This slowly progressive visceral disease has a wide spectrum of involvement ranging from early onset with severe cirrhosis to later onset of more slowly progressive hepatic disease with survival into adulthood (summary by Du et al., 2001).|OMIM|N|
C0008412|A condition produced by a deficiency of choline in animals. Choline is known as a lipotropic agent because it has been shown to promote the transport of excess fat from the liver under certain conditions in laboratory animals. Combined deficiency of choline (included in the B vitamin complex) and all other methyl group donors causes liver cirrhosis in some animals. Unlike compounds normally considered as vitamins, choline does not serve as a cofactor in enzymatic reactions. (From Saunders Dictionary & Encyclopedia of Laboratory Medicine and Technology, 1984)|MONDO|N|
C0008441|A usually benign tumor composed of cells which arise from chondroblasts or their precursors and which tend to differentiate into cartilage cells.|HPO|N|
C0008445|A rare congenital developmental disorder characterized by the presence of stippled foci of calcification in the hyaline cartilage, joint contractions, mental retardation and ichthyosis.|NCI|N|
C0008449|Any dysfunction in the growth of cartilage.|NCI|N|
C0008475|Familial chondromalacia patellae is an inherited bone disorder described in 5 families in 1963 and is characterized by localized patellar pain and male-to-male transmission.|MONDO|N|
C0008476|An uncommon, benign cartilaginous neoplasm usually occurring in adults. The nodular tumor arises from the synovial membranes of joints. It is characterized by the presence of chondrocytes, nuclear pleomorphism, and hyaline cartilage differentiation. Clinical presentation may include joint pain, swelling, and limited range of motion.|NCI|N|
C0008479|A slowly growing malignant neoplasm derived from cartilage cells.|HPO|N|
C0008487|Chordomas are rare, clinically malignant tumors derived from notochordal remnants. They occur along the length of the spinal axis, predominantly in the sphenooccipital, vertebral, and sacrococcygeal regions. They are characterized by slow growth, local destruction of bone, extension into adjacent soft tissues, and, rarely, distant metastatic spread (Stepanek et al., 1998). The incidence of chordoma is age-dependent, with fewer than 5% occurring in children and adolescents (summary by McMaster et al., 2011).|OMIM|N|
C0008489|Chorea (Greek for 'dance') refers to widespread arrhythmic involuntary movements of a forcible, jerky and restless fashion. It is a random-appearing sequence of one or more discrete involuntary movements or movement fragments. Movements appear random because of variability in timing, duration or location. Each movement may have a distinct start and end. However, movements may be strung together and thus may appear to flow randomly from one muscle group to another. Chorea can involve the trunk, neck, face, tongue, and extremities.|HPO|N|
C0008493|A form of gestational trophoblastic neoplasia similar to a hydatidiform mole but with deep invasion into the myometriumand histologically characterized hyperplasia of trophoblasts, generalized cystic degeneration of chorionic villi and the presence of molar villi in the myometrium and/ or uterine blood vessels. Indicative signs include persistent unexplained metrorrhagia or secondary increase, stagnation, or non-normalization at 6 months of total serum chorionic gonadotropin (hCG) levels after evacuation of a hydatidiform mole. Metastases (in the lungs or vagina) may be observed.|ORDO|N|
C0008495|A morphologic finding indicating inflammation of the fetal sac membranes. It is characterized by neutrophilic infiltration of the amnion and chorion.|NCI|N|
C0008497|A malignant, trophoblastic and aggressive cancer, usually of the placenta. It is characterized by early hematogenous spread to the lungs and belongs to the far end of the spectrum of gestational trophoblastic disease (GTD), a subset of germ cell tumors.|HPO|N|
C0008512|Fibrous connective tissue resulting from incomplete healing of a wound (i.e., a scar) located in the choroid and retina or the eye.|HPO|N|
C0008513|An inflammation of the choroid and retina.|HPO|N|
C0008519|Proliferation of normal tissue in an anatomic site in which this particular type of tissue is not normally present.|NCI|N|
C0008521|A non-neoplastic or neoplastic disorder that affects the choroid. Representative examples include choroiditis, hemangioma, and melanoma.|NCI|N|
C0008522|Hemorrhage from the vessels of the choroid.|HPO|N|
C0008523|A benign or malignant neoplasm that affects the choroid.|NCI|N|
C0008525|Choroideremia (CHM) is characterized by progressive chorioretinal degeneration in affected males and milder signs in heterozygous (carrier) females. Typically, symptoms in affected males evolve from night blindness to peripheral visual field loss, with central vision preserved until late in life. Although carrier females are generally asymptomatic, signs of chorioretinal degeneration can be reliably observed with fundus autofluorescence imaging, and – after age 25 years – with careful fundus examination.|GeneReviews|N|
C0008526|An inflammatory process that affects the choroid.|MONDO|N|
C0008533|Hemophilia B is characterized by deficiency in factor IX clotting activity that results in prolonged oozing after injuries, tooth extractions, or surgery, and delayed or recurrent bleeding prior to complete wound healing. The age of diagnosis and frequency of bleeding episodes are related to the level of factor IX clotting activity. In individuals with severe hemophilia B, spontaneous joint or deep-muscle bleeding is the most frequent sign. Individuals with severe hemophilia B are usually diagnosed during the first two years of life; without prophylactic treatment, they may average up to two to five spontaneous bleeding episodes each month. Individuals with moderate hemophilia B seldom have spontaneous bleeding; however, they do have prolonged or delayed oozing after relatively minor trauma and are usually diagnosed before age five to six years; the frequency of bleeding episodes varies from once a month to once a year. Individuals with mild hemophilia B do not have spontaneous bleeding episodes; however, without pre- and postoperative treatment, abnormal bleeding occurs with surgery or tooth extractions; the frequency of bleeding may vary from once a year to once every ten years. Individuals with mild hemophilia B are often not diagnosed until later in life. In any individual with hemophilia B, bleeding episodes may be more frequent in childhood and adolescence than in adulthood. Approximately 30% of heterozygous females have factor IX clotting activity lower than 40% and are at risk for bleeding (even if the affected family member has mild hemophilia B), although symptoms are usually mild. After major trauma or invasive procedures, prolonged or excessive bleeding usually occurs, regardless of severity.|GeneReviews|N|
C0008582|Chromomycosis is a chronic cutaneous and subcutaneous fungal infection, found mainly in subtropical and tropical areas (in soil and plant debris and transmitted by traumatic inoculation), and characterized clinically by slow growing, verrucous nodules, squamous plaques, or chronic limited lesions which are most commonly found on the lower limbs and which are characterized histologically by the presence of muriform cells. It is caused by dematiaceous fungi, with the main etiological agents being <i>Fonsecaea pedrosoi</i>, <i>Phialophora verrucosa</i> and <i>Cladophialophora carrionii</i>. Rarely, it can be caused by <i>Rhinocladiella aquaspersa</i>.|ORDO|N|
C0008625|An irregularity in the number or structure of chromosomes, usually in the form of a gain (duplication), loss (deletion), exchange (translocation), or alteration in sequence (inversion) of genetic material.|NCI|N|
C0008626|A disorder that results from a chromosomal abnormality.|NCI|N|
C0008628|Loss of a portion of a chromosome arm.|NCI|N|
C0008629|Susceptibility of chromosomes to breakage leading to translocation; CHROMOSOME INVERSION; SEQUENCE DELETION; or other CHROMOSOME BREAKAGE related aberrations.|MSH|N|
C0008677|Chronic inflammation of the bronchi.|HPO|N|
C0008679|A disease condition that persists over a significant span of time.|NCI|N|
C0008680|Chronic inflammatory disorder of the lungs characterized by the presence of eosinophils in the interalveolar septa and alveolar spaces and peripheral blood eosinophilia. Chest x-rays reveal peripheral infiltrates. Approximately half of the patients have history of asthma or atopic disease. Signs and symptoms include fever, dyspnea, cough, and weight loss. Following treatment with corticosteroids, the eosinophilic infiltrates in the lungs disappear, resulting in dramatic clinical improvement.|NCI|N|
C0008681|Inflammation of the ethmoid sinus that typically lasts beyond eight weeks. It is caused by infections, allergies, and the presence of sinus polyps or a deviated septum. Signs and symptoms include headache, nasal discharge, swelling in the face, dizziness, and breathing difficulties.|NCI|N|
C0008683|Inflammation of the frontal sinus that typically lasts beyond eight weeks. It is caused by infections, allergies, and the presence of sinus polyps or a deviated septum. Signs and symptoms include headache, nasal discharge, swelling in the face, dizziness, and breathing difficulties.|NCI|N|
C0008684|Chronic painless inflammation of the gums. It is characterized by erythema and edema of the gums and bleeding while brushing the teeth.|NCI|N|
C0008686|A slowly progressive inflammation of the glomeruli characterized by immune complex deposits on the epithelial side of the glomerular basement membrane.|NCI|N|
C0008698|Inflammation of the maxillary sinus that typically lasts beyond eight weeks. It is caused by infections, allergies, and the presence of sinus polyps or a deviated septum. Signs and symptoms include headache, nasal discharge, swelling in the face, dizziness, and breathing difficulties.|NCI|N|
C0008701|A neurological disorder presenting in childhood that is characterized by either motor or phonic tics, but not both, that occur daily or nearly daily for at least a year and are not attributed to an identifiable cause.|NCI|N|
C0008711|Chronic inflammation of the nasal mucosa.|HPO|N|
C0008712|Inflammation of the sphenoid sinus that typically lasts beyond eight weeks. It is caused by infections, allergies, and the presence of sinus polyps or a deviated septum. Signs and symptoms include headache, nasal discharge, swelling in the face, dizziness, and breathing difficulties.|NCI|N|
C0008728|A rare systemic vasculitis of small vessels characterized by asthma, blood and tissue eosinophilia and vasculitis manifestations.|ORDO|N|
C0008732|Extravasation of chyle into the peritoneal cavity.|HPO|N|
C0008733|Accumulation of excessive amounts of lymphatic fluid (chyle) in the pleural cavity.|HPO|N|
C0008767|A scar refers to a lesion in which wound, burn, or sore has not healed completely and fibrous connective tissue has developed.|HPO|N|
C0008780|Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). The signs and symptoms of this condition are caused by abnormal cilia and flagella. Cilia are microscopic, finger-like projections that stick out from the surface of cells. They are found in the linings of the airway, the reproductive system, and other organs and tissues. Flagella are tail-like structures, similar to cilia, that propel sperm cells forward.\n\nIn the respiratory tract, cilia move back and forth in a coordinated way to move mucus towards the throat. This movement of mucus helps to eliminate fluid, bacteria, and particles from the lungs. Most babies with primary ciliary dyskinesia experience breathing problems at birth, which suggests that cilia play an important role in clearing fetal fluid from the lungs. Beginning in early childhood, affected individuals develop frequent respiratory tract infections. Without properly functioning cilia in the airway, bacteria remain in the respiratory tract and cause infection. People with primary ciliary dyskinesia also have year-round nasal congestion and a chronic cough. Chronic respiratory tract infections can result in a condition called bronchiectasis, which damages the passages, called bronchi, leading from the windpipe to the lungs and can cause life-threatening breathing problems.\n\nSome individuals with primary ciliary dyskinesia have abnormally placed organs within their chest and abdomen. These abnormalities arise early in embryonic development when the differences between the left and right sides of the body are established. About 50 percent of people with primary ciliary dyskinesia have a mirror-image reversal of their internal organs (situs inversus totalis). For example, in these individuals the heart is on the right side of the body instead of on the left. Situs inversus totalis does not cause any apparent health problems. When someone with primary ciliary dyskinesia has situs inversus totalis, they are often said to have Kartagener syndrome.\n\nApproximately 12 percent of people with primary ciliary dyskinesia have a condition known as heterotaxy syndrome or situs ambiguus, which is characterized by abnormalities of the heart, liver, intestines, or spleen. These organs may be structurally abnormal or improperly positioned. In addition, affected individuals may lack a spleen (asplenia) or have multiple spleens (polysplenia). Heterotaxy syndrome results from problems establishing the left and right sides of the body during embryonic development. The severity of heterotaxy varies widely among affected individuals.\n\nPrimary ciliary dyskinesia can also lead to infertility. Vigorous movements of the flagella are necessary to propel the sperm cells forward to the female egg cell. Because their sperm do not move properly, males with primary ciliary dyskinesia are usually unable to father children. Infertility occurs in some affected females and is likely due to abnormal cilia in the fallopian tubes.\n\nAnother feature of primary ciliary dyskinesia is recurrent ear infections (otitis media), especially in young children. Otitis media can lead to permanent hearing loss if untreated. The ear infections are likely related to abnormal cilia within the inner ear.\n\nRarely, individuals with primary ciliary dyskinesia have an accumulation of fluid in the brain (hydrocephalus), likely due to abnormal cilia in the brain.|MedlinePlus Genetics|N|
C0008858|A series of oxidative reactions in the breakdown of acetyl units derived from GLUCOSE; FATTY ACIDS; or AMINO ACIDS by means of tricarboxylic acid intermediates. The end products are CARBON DIOXIDE, water, and energy in the form of phosphate bonds.|MSH|N|
C0008909|An abnormal fear of being in a closed or narrow space with no escape is called claustrophobia.|HPO|N|
C0008924|A gap or groove in the upper lip. This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development.|HPO|N|
C0008928|Cleidocranial dysplasia (CCD) spectrum disorder is a skeletal dysplasia that represents a clinical continuum ranging from classic CCD (triad of delayed closure of the cranial sutures, hypoplastic or aplastic clavicles, and dental abnormalities) to mild CCD to isolated dental anomalies without the skeletal features. Most individuals come to diagnosis because they have classic features. At birth, affected individuals typically have abnormally large, wide-open fontanelles that may remain open throughout life. Clavicular hypoplasia can result in narrow, sloping shoulders that can be opposed at the midline. Moderate short stature may be observed, with most affected individuals being shorter than their unaffected sibs. Dental anomalies may include supernumerary teeth, eruption failure of the permanent teeth, and presence of the second permanent molar with the primary dentition. Individuals with CCD spectrum disorder are at increased risk of developing recurrent sinus infections, recurrent ear infections leading to conductive hearing loss, and upper-airway obstruction. Intelligence is typically normal.|GeneReviews|N|
C0009021|Infection of the biliary passages with clonorchis sinensis, also called Opisthorchis sinensis. It may lead to inflammation of the biliary tract, proliferation of biliary epithelium, progressive portal fibrosis, and sometimes bile duct carcinoma. Extension to the liver may lead to fatty changes and cirrhosis. (From Dorland, 27th ed)|MONDO|N|
C0009024|A series of rhythmic and involuntary muscle contractions (at a frequency of about 5 to 7 Hz) that occur in response to an abruptly applied and sustained stretch.|HPO|N|
C0009062|Infections with bacteria of the genus CLOSTRIDIUM and closely related CLOSTRIDIOIDES species.|MSH|N|
C0009075|A transplantable melanoma that arose spontaneously in a mouse of DBA strain, and which grows and metastasizes in mice of related strains. (dictionarybarn.com)|NCI|N|
C0009080|Terminal broadening of the fingers (distal phalanges of the fingers).|HPO|N|
C0009081|Clubfoot is a congenital limb deformity defined as fixation of the foot in cavus, adductus, varus, and equinus (i.e., inclined inwards, axially rotated outwards, and pointing downwards) with concomitant soft tissue abnormalities (Cardy et al., 2007). Clubfoot may occur in isolation or as part of a syndrome (e.g., diastrophic dysplasia, 222600). Clubfoot has been reported with deficiency of long bones and mirror-image polydactyly (Gurnett et al., 2008; Klopocki et al., 2012).|OMIM|N|
C0009088|A type of headache characterized by repeated attacks of unilateral pain lasting 15 to 180 minutes and associated with local autonomic signs.|HPO|N|
C0009171|Disorders related or resulting from use of cocaine.|MONDO|N|
C0009176|A rare disorder due to poisoning characterized by variable combination and dose-dependent severity of clinical manifestations, affecting behavior, central nervous and cardiovascular system. Patients present with euphoria, irritability, agitation, psychosis, hallucinations, paranoia, seizures, decreased responsiveness, mydriasis, tachyarrhythmia, chest pain, and cardiovascular collapse. Sometimes also dyspnea, hypertension, hyperthermia, hypothermia, lack of sleep and serotonin syndrome are present. Severe intoxication may lead to coma and death.|ORPHANET|N|
C0009181|The combination of two or more different factors in the production of cancer.|MSH|N|
C0009186|Infection by a Coccidioides species fungus. These are dimorphic, soil-dwelling, fungi known to cause a broad spectrum of disease, ranging from a mild febrile illness to severe pulmonary manifestations or disseminated disease. The genus Coccidioides is comprised of two genetically distinct species|HPO|N|
C0009187|A parasitic infection caused by Coccidia. It affects livestock, birds and humans. In humans the parasite infests the intestinal tract and may cause watery diarrhea, abdominal pain, fever, nausea and vomiting.|NCI|N|
C0009193|Coccygodynia is a rare condition in that causes pain in and around the coccyx (tailbone). Although various causes have been described for the condition, the more commoncausesare direct falls and injury.|MONDO|N|
C0009197|Pathological processes of the snail-like structure (cochlea) of the inner ear (labyrinth) which can involve its nervous tissue, blood vessels, or fluid (endolymph).|MONDO|N|
C0009207|Cockayne syndrome (referred to as CS in this GeneReview) spans a continuous phenotypic spectrum that includes: CS type I, the "classic" or "moderate" form; CS type II, a more severe form with symptoms present at birth; this form overlaps with cerebrooculofacioskeletal (COFS) syndrome; CS type III, a milder and later-onset form; COFS syndrome, a fetal form of CS. CS type I is characterized by normal prenatal growth with the onset of growth and developmental abnormalities in the first two years. By the time the disease has become fully manifest, height, weight, and head circumference are far below the fifth percentile. Progressive impairment of vision, hearing, and central and peripheral nervous system function leads to severe disability; death typically occurs in the first or second decade. CS type II is characterized by growth failure at birth, with little or no postnatal neurologic development. Congenital cataracts or other structural anomalies of the eye may be present. Affected children have early postnatal contractures of the spine (kyphosis, scoliosis) and joints. Death usually occurs by age five years. CS type III is a phenotype in which major clinical features associated with CS only become apparent after age two years; growth and/or cognition exceeds the expectations for CS type I. COFS syndrome is characterized by very severe prenatal developmental anomalies (arthrogryposis and microphthalmia).|GeneReviews|N|
C0009225|A parasitic infection that develops in the intermediate hosts of some tapeworm species (Taenia multiceps, T. serialis, T. brauni, or T. glomerata) and are caused by the coenurus, the larval stage of these worms. This disease occurs mainly in sheep and other ungulates, but occasionally can occur in humans too by accidental ingestion of worms' eggs.|MONDO|N|
C0009241|A category of psychiatric disorders which are characterized by a deficit in cognition or memory.|NCI|N|
C0009250|A single lung lesion that is characterized by a small round mass of tissue, usually less than 1 cm in diameter, and can be detected by chest radiography. A solitary pulmonary nodule can be associated with neoplasm, tuberculosis, cyst, or other anomalies in the lung, the chest wall, or the pleura.|MONDO|N|
C0009315|A broad-spectrum polymyxin antibiotic against most aerobic Gram-negative bacteria except Proteus bacteria. Colistimethate is a mixture of methanesulfonate derivatives of cyclic polypeptides colistin A and B from Bacillus colistinus or B. polymyxa. Colistin functions as a surfactant which penetrates into and disrupts the bacterial cell membrane, thereby resulting in bactericidal effect.|NCI|N|
C0009319|Ulcerative colitis is a chronic disorder that affects the digestive system. This condition is characterized by abnormal inflammation of the inner surface (epithelium) of the rectum and colon. The rectum and colon make up most of the length of the large intestine. The inflammation usually causes open sores (ulcers) to develop in the large intestine. Ulcerative colitis usually appears between the age of 15 and 30, although it can develop at any age. The inflammation tends to flare up multiple times throughout a person's life, which causes recurring signs and symptoms.\n\nThe most common symptoms of ulcerative colitis are cramping abdominal pain and frequent diarrhea, often with blood, pus, or mucus in the stool. Other signs and symptoms include nausea, loss of appetite, bowel urgency, fatigue, and fevers. Chronic bleeding from the inflamed and ulcerated intestinal tissue can cause a shortage of red blood cells (anemia) in some affected individuals. People with this disorder have difficulty absorbing enough fluids and nutrients from their diet and often experience weight loss. Affected children usually grow more slowly than normal. Less commonly, ulcerative colitis causes problems with the skin, joints, eyes, kidneys, or liver, which are most likely due to abnormal inflammation.\n\nToxic megacolon is a rare complication of ulcerative colitis that can be life-threatening. Toxic megacolon involves a widening (dilation) of the colon and an overwhelming inflammatory response. Ulcerative colitis also increases the risk of developing colon cancer, especially in people whose entire colon is inflamed and in those who have had ulcerative colitis for 8 years or more.\n\nUlcerative colitis is one common form of inflammatory bowel disease (IBD). Another type of IBD, Crohn's disease, also causes chronic inflammation of the intestines. Unlike ulcerative colitis, which affects only the inner surface of the large intestine, Crohn's disease can cause inflammation in any part of the digestive system, and the inflammation extends deeper into the intestinal tissue.|MedlinePlus Genetics|N|
C0009324|A chronic inflammatory bowel disease that includes characteristic ulcers, or open sores, in the colon. The main symptom of active disease is usually constant diarrhea mixed with blood, of gradual onset and intermittent periods of exacerbated symptoms contrasting with periods that are relatively symptom-free. In contrast to Crohn's disease this special form of colitis begins in the distal parts of the rectum, spreads continually upwards and affects only mucose and submucose tissue of the colon.|HPO|N|
C0009326|Inflammatory and degenerative diseases of connective tissue structures, such as arthritis.|NCI|N|
C0009363|Coloboma is an eye abnormality that occurs before birth. Colobomas are missing pieces of tissue in structures that form the eye. They may appear as notches or gaps in one of several parts of the eye, including the colored part of the eye called the iris; the retina, which is the specialized light-sensitive tissue that lines the back of the eye; the blood vessel layer under the retina called the choroid; or the optic nerves, which carry information from the eyes to the brain.\n\nColobomas may be present in one or both eyes and, depending on their size and location, can affect a person's vision. Colobomas affecting the iris, which result in a "keyhole" appearance of the pupil, generally do not lead to vision loss. Colobomas involving the retina result in vision loss in specific parts of the visual field. Large retinal colobomas or those affecting the optic nerve can cause low vision, which means vision loss that cannot be completely corrected with glasses or contact lenses.\n\nSome people with coloboma also have a condition called microphthalmia. In this condition, one or both eyeballs are abnormally small. In some affected individuals, the eyeball may appear to be completely missing; however, even in these cases some remaining eye tissue is generally present. Such severe microphthalmia should be distinguished from another condition called anophthalmia, in which no eyeball forms at all. However, the terms anophthalmia and severe microphthalmia are often used interchangeably. Microphthalmia may or may not result in significant vision loss.\n\nPeople with coloboma may also have other eye abnormalities, including clouding of the lens of the eye (cataract), increased pressure inside the eye (glaucoma) that can damage the optic nerve, vision problems such as nearsightedness (myopia), involuntary back-and-forth eye movements (nystagmus), or separation of the retina from the back of the eye (retinal detachment).\n\nSome individuals have coloboma as part of a syndrome that affects other organs and tissues in the body. These forms of the condition are described as syndromic. When coloboma occurs by itself, it is described as nonsyndromic or isolated.\n\nColobomas involving the eyeball should be distinguished from gaps that occur in the eyelids. While these eyelid gaps are also called colobomas, they arise from abnormalities in different structures during early development.|MedlinePlus Genetics|N|
C0009373|Pathological processes in the colon region of the large intestine (intestine, large).|MONDO|N|
C0009374|Chronic or recurrent colonic disorders without an identifiable structural or biochemical explanation. The widely recognized irritable bowel syndrome falls into this category.|MONDO|N|
C0009375|A benign or malignant neoplasm that affects the colon. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma. Colonic adenomas always exhibit epithelial dysplasia and are considered premalignant neoplasms.|NCI|N|
C0009376|A polypoid lesion that arises from the colon and protrudes into the lumen. This group includes adenomatous polyps, serrated polyps, and hamartomatous polyps.|NCI|N|
C0009377|Functional obstruction of the colon leading to megacolon in the absence of obvious colonic diseases or mechanical obstruction. When this condition is acquired, acute, and coexisting with another medical condition (trauma, surgery, serious injuries or illness, or medication), it is called Ogilvie's syndrome.|MONDO|N|
C0009398|Defects of color vision are mainly hereditary traits but can be secondary to acquired or developmental abnormalities in the CONES (RETINA). Severity of hereditary defects of color vision depends on the degree of mutation of the ROD OPSINS genes (on X CHROMOSOME and CHROMOSOME 3) that code the photopigments for red, green and blue.|MSH|N|
C0009400|An acute arboviral infection caused by a <i>Coltivirus</i> transmitted by an infected tick and characterized by a biphasic fever with headache, myalgias, arthralgias, and fatigue that can last 3 weeks or more. In some cases, macular, maculopapular, or petechial rash and/or stiff neck, nausea, vomiting, abdominal pain, diarrhea, and sore throat may also occur.|ORDO|N|
C0009402|A malignant epithelial neoplasm that arises from the colon or rectum and invades through the muscularis mucosa into the submucosa. The vast majority are adenocarcinomas.|NCI|N|
C0009404|The presence of a neoplasm of the large intestine.|HPO|N|
C0009405|A group of autosomal-dominant inherited diseases in which COLON CANCER arises in discrete adenomas. Unlike FAMILIAL POLYPOSIS COLI with hundreds of polyps, hereditary nonpolyposis colorectal neoplasms occur much later, in the fourth and fifth decades. HNPCC has been associated with germline mutations in mismatch repair (MMR) genes. It has been subdivided into Lynch syndrome I or site-specific colonic cancer, and LYNCH SYNDROME II which includes extracolonic cancer.|MSH|N|
C0009421|The complete absence of wakefulness and consciousness, which is evident through a lack of response to any form of external stimuli.|HPO|N|
C0009426|Neurotic reactions to unusual, severe, or overwhelming military stress.|MONDO|N|
C0009439|Characterized by the fusiform or saccular dilatation of the COMMON BILE DUCT.|MSH|N|
C0009440|A disease involving the common bile duct.|MONDO|N|
C0009442|Tumor or cancer of the common bile duct including the ampulla of vater and the sphincter of oddi.|MONDO|N|
C0009443|An acute inflammatory process that affects the nasopharynx. It is caused by viruses. Signs and symptoms include fever, coughing, sneezing, and sore throat.|NCI|N|
C0009447|Common variable immune deficiency (CVID) is a disorder that impairs the immune system. People with CVID are highly susceptible to infection from foreign invaders such as bacteria, or more rarely, viruses and often develop recurrent infections, particularly in the lungs, sinuses, and ears. Pneumonia is common in people with CVID. Over time, recurrent infections can lead to chronic lung disease. Affected individuals may also experience infection or inflammation of the gastrointestinal tract, which can cause diarrhea and weight loss. Abnormal accumulation of immune cells causes enlarged lymph nodes (lymphadenopathy) or an enlarged spleen (splenomegaly) in some people with CVID. Immune cells can accumulate in other organs, forming small lumps called granulomas.\n\nApproximately 25 percent of people with CVID have an autoimmune disorder, which occurs when the immune system malfunctions and attacks the body's tissues and organs. The blood cells are most frequently affected by autoimmune attacks in CVID; the most commonly occurring autoimmune disorders are immune thrombocytopenia, which is an abnormal bleeding disorder caused by a decrease in cells involved in blood clotting called platelets, and autoimmune hemolytic anemia, which results in premature destruction of red blood cells. Other autoimmune disorders such as rheumatoid arthritis can occur. Individuals with CVID also have a greater than normal risk of developing certain types of cancer, including a cancer of immune system cells called non-Hodgkin lymphoma and less frequently, stomach (gastric) cancer.\n\nPeople with CVID may start experiencing signs and symptoms of the disorder anytime between childhood and adulthood; most people with CVID are diagnosed in their twenties or thirties. The life expectancy of individuals with CVID varies depending on the severity and frequency of illnesses they experience. Most people with CVID live into adulthood.\n\nThere are many different types of CVID that are distinguished by genetic cause. People with the same type of CVID may have varying signs and symptoms.|MedlinePlus Genetics|N|
C0009448|A legal status where individuals are living in a continuous, conjugal relationship for a period of time defined by law.|NCI|N|
C0009450|A disorder resulting from the presence and activity of a microbial, viral, fungal, or parasitic agent. It can be transmitted by direct or indirect contact.|NCI|N|
C0009451|A form of hydrocephalus in which there is no visible obstruction to the flow of the cerebrospinal fluid between the ventricles and subarachnoid space.|HPO|N|
C0009460|A disorder characterized by an individual''s inability to comprehend or share ideas or feelings because of an impairment in language, speech, or hearing.|NCI|N|
C0009488|The coexistence of two or more disease processes.|NCI|N|
C0009492|Elevated pressure in a confined space enclosed by fascia or eschar, which may lead to vascular compromise and subsequent ischemic injury to the tissue within the space.|NCI|N|
C0009528|Any physiologic process in which a protease directs the cleavage of complement components C4, C2, or factor B which then form the C3 and C5 convertases for the classical and lectin pathways, respectively. This process is involved in direct lysis of target cells, immune adherence and phagocytosis of pathogens, and recruitment and activation of immunocompetent cells.|NCI|N|
C0009546|Complement activation initiated by the interaction of microbial ANTIGENS with COMPLEMENT C3B. When COMPLEMENT FACTOR B binds to the membrane-bound C3b, COMPLEMENT FACTOR D cleaves it to form alternative C3 CONVERTASE (C3BBB) which, stabilized by COMPLEMENT FACTOR P, is able to cleave multiple COMPLEMENT C3 to form alternative C5 CONVERTASE (C3BBB3B) leading to cleavage of COMPLEMENT C5 and the assembly of COMPLEMENT MEMBRANE ATTACK COMPLEX.|MSH|N|
C0009547|Complement activation initiated by the binding of COMPLEMENT C1 to ANTIGEN-ANTIBODY COMPLEXES at the COMPLEMENT C1Q subunit. This leads to the sequential activation of COMPLEMENT C1R and COMPLEMENT C1S subunits. Activated C1s cleaves COMPLEMENT C4 and COMPLEMENT C2 forming the membrane-bound classical C3 CONVERTASE (C4B2A) and the subsequent C5 CONVERTASE (C4B2A3B) leading to cleavage of COMPLEMENT C5 and the assembly of COMPLEMENT MEMBRANE ATTACK COMPLEX.|MSH|N|
C0009566|Any disease or disorder that occurs during the course of, or because of, another disease, treatment, or procedure.|NCI|N|
C0009568|A disease or disorder that is associated with a transplanted organ.|NCI|N|
C0009595|A disorder characterized by an enduring pattern of inflexibility, extreme orderliness, and perfectionism which interfere with efficiency and which may manifest in many different contexts, including work and leisure activities, financial matters, and issues of morality or ethics.|NCI|N|
C0009663|Warts affecting the skin in the genital area (penile shaft, scrotum, vagina, or labia majora). Warts can be small, beginning as a pinhead-size swelling that may become larger and take on a pedunculated appearance. Warts can spread and coalesce into large masses in the genital or anal area. Their color is variable but tends to be skin colored or darker, and they may occasionally bleed. Warts may cause itching, redness, or discomfort. An outbreak of genital warts may also cause psychological distress.|HPO|N|
C0009676|Lack of clarity and coherence of thought, perception, understanding, or action.|HPO|N|
C0009677|Macroglossia is an abnormal enlargement of the tongue. It is commonly observed with type 2 glycogen storage disease (232300), neurofibromatosis (162200), congenital hypothyroidism, and the Beckwith-Wiedemann syndrome (130650).|OMIM|N|
C0009681|An abnormality of the pulmonary artery.|HPO|N|
C0009691|A cataract that occurs congenitally as the result of a developmental defect, in contrast to the majority of cataracts that occur in adulthood as the result of degenerative changes of the lens.|HPO|N|
C0009694|A congenital abnormality in which the meninges protrude through a defect in the cranium.|NCI|N|
C0009714|Congenital hepatic fibrosis is a disease of the liver that is present from birth. The liver has many important functions, including producing various substances needed by the body and breaking down other substances into smaller parts to be used or removed from the body.\n\nCongenital hepatic fibrosis is characterized by abnormal formation of the bile ducts and the blood vessels of the hepatic portal system. Bile ducts carry bile (a fluid that helps to digest fats) from the liver to the gallbladder and small intestine. The hepatic portal system is a branching network of veins (portal veins) that carry blood from the gastrointestinal tract to the liver for processing.\n\nA buildup of scar tissue (fibrosis) in the portal tracts also occurs in this disorder. Portal tracts are structures in the liver that bundle the vessels through which blood, lymph, and bile flow. Lymph is a fluid that helps exchange immune cells, proteins, and other substances between the blood and tissues. Fibrosis in the portal tracts can restrict the normal movement of fluids in these vessels.\n\nNarrowing of the portal veins due to malformation and portal tract fibrosis results in high blood pressure in the hepatic portal system (portal hypertension). Portal hypertension impairs the flow of blood from the gastrointestinal tract, causing an increase in pressure in the veins of the esophagus, stomach, and intestines. These veins may stretch and their walls may become thin, leading to a risk of abnormal bleeding.\n\nPeople with congenital hepatic fibrosis have an enlarged liver and spleen (hepatosplenomegaly). The liver is also abnormally shaped. Affected individuals also have an increased risk of infection of the bile ducts (cholangitis), hard deposits in the gallbladder or bile ducts (gallstones), and cancer of the liver or gallbladder.\n\nCongenital hepatic fibrosis may occur alone, in which case it is called isolated congenital hepatic fibrosis. More frequently, it occurs as a feature of genetic syndromes that also affect the kidneys, such as polycystic kidney disease (PKD).|MedlinePlus Genetics|N|
C0009730|A congenital abnormality in which the meninges protrude through a defect in the spinal column.|NCI|N|
C0009759|A non-neoplastic or neoplastic disorder that affects the conjunctiva. Representative examples include conjunctivitis and squamous cell carcinoma.|NCI|N|
C0009760|A hemorrhage occurring in the conjunctiva of the eye.|NCI|N|
C0009761|A benign or malignant neoplasm that affects the conjunctiva. Representative examples include papilloma, squamous cell carcinoma, and melanoma.|NCI|N|
C0009763|Inflammation of the conjunctiva.|HPO|N|
C0009765|Acute conjunctivitis that is characterized by bleeding into the conjunctiva.|NCI|N|
C0009766|Allergic Conjunctivitis is an allergic inflammation of the conjunctiva.|HPO|N|
C0009768|Inflammation of the conjunctiva caused by a variety of bacterial agents.|NCI|N|
C0009769|Conjunctivitis that is associated with contact lens wear, and which is characterized by giant papillae in the tarsal conjunctiva.|NCI|N|
C0009770|Inflammation of the conjunctiva in a newborn due to Chlamydia trachomatis which was acquired during labor and delivery.|MONDO|N|
C0009773|Inflammation of the cornea that is seasonal in nature.|NCI|N|
C0009774|Conjunctivitis resulting from viral infection.|NCI|N|
C0009777|A type of primary hyperaldosteronism resulting from a benign neoplasm of the adrenal gland. The adrenal neoplasm increases production of aldosterone. Excess aldosterone causes the kidneys to retain more salt than usual resulting in increases in body fluid levels and blood pressure. The disease is caused by mutations in one of several genes. The most commonly mutated gene is KCNJ5, accounting for an estimated 40 percent of the neoplasms, followed by the CACNA1D and ATP1A1 genes. Changes in other genes cause a small percentage of cases with additional unidentified genes involved in the condition. The disease is generally not inherited but may arise from a mutation occurring after conception.|SNOMEDCT_US|N|
C0009782|A non-neoplastic or neoplastic disorder that affects the connective tissue.|NCI|N|
C0009789|The magnitude of INBREEDING in humans.|MSH|N|
C0009792|Organic mental disorders in which there is impairment of the ability to maintain awareness of self and environment and to respond to environmental stimuli. Dysfunction of the cerebral hemispheres or brain stem RETICULAR FORMATION may result in this condition.|MSH|N|
C0009806|Infrequent or difficult evacuation of feces.|HPO|N|
C0009812|A symptom or manifestation indicating a systemic or general effect of a disease and that may affect the general well-being or status of an individual.|HPO|N|
C0009866|Occurrence of pregnancy despite contraception.|SNOMEDCT_US|N|
C0009917|Permanent contraction of a muscle as a result of spasm or paralysis.|NCI|N|
C0009918|A limitation in the passive range of motion of the elbow resulting from loss of elasticity in the periarticular tissues owing to structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules or skin. A contracture prevents movement of the associated body part.|HPO|N|
C0009940|The period of recovery following an illness.|MSH|N|
C0009946|Conversion disorder is a disorder in which a person experiences blindness, paralysis, or other symptoms affecting the nervous system that cannot be explained solely by a physical illness or injury. Symptoms usually begin suddenly after a period of emotional or physical distress or psychological conflict. Conversion disorder is thought to be caused by the bodys reaction to a stressful physical or emotional event. Some research has identified potential neurological changes that may be related to symptoms of the disorder. Diagnosis of conversion disorder is based on identifying particular signs that are common among people with the disorder, as well as performing tests to rule out other causes of the symptoms. Treatment may include psychotherapy, hypnosis, and stress management training to help reduce symptoms. Treatment of any underlying psychological disorder is also recommended. The affected body part may require physical or occupational therapy until symptoms resolve.|MONDO|N|
C0009952|A febrile seizure is any type of seizure (most often a generalized tonic-clonic seizure) occurring with fever (at least 38 degrees Celsius) but in the absence of central nervous system infection, severe metabolic disturbance or other alternative precipitant in children between the ages of 3 months and 6 years.|HPO|N|
C0009983|The deliberate ingestion of feces. It is considered a form of pica.|NCI|N|
C0009995|The presence of an additional membrane in the left or right cardiac atrium which results in the subdivision of the affected atrium (and thus in total three atria, whence the name).|HPO|N|
C0010034|A non-neoplastic or neoplastic disorder that affects the cornea. Representative examples include keratitis, bullous keratopathy, and squamous cell carcinoma.|NCI|N|
C0010035|A family of inherited disorders characterized by the gradual, progressive accumulation of extraneous material on one or both corneas, which, without proper treatment, can impair vision.|NCI|N|
C0010036|The term corneal dystrophy embraces a heterogenous group of bilateral genetically determined non-inflammatory corneal diseases that are restricted to the cornea.|HPO|N|
C0010037|Hazy, swollen cornea.|NCI|N|
C0010038|A reduction of corneal clarity.|HPO|N|
C0010043|Disruption of the epithelial layer of the cornea with involvement of the underlying stroma.|HPO|N|
C0010051|Enlargement of the diameter (cross-section) of a coronary artery as defined by a focal dilation of a segment at least 1.5 times larger than the reference vessel.|HPO|N|
C0010054|Reduction of the diameter of the coronary arteries as the result of an accumulation of atheromatous plaques within the walls of the coronary arteries, which increases the risk of myocardial ischemia.|HPO|N|
C0010068|An imbalance between myocardial functional requirements and the capacity of the CORONARY VESSELS to supply sufficient blood flow. It is a form of MYOCARDIAL ISCHEMIA (insufficient blood supply to the heart muscle) caused by a decreased capacity of the coronary vessels.|MSH|N|
C0010072|Coagulation of blood in any of the coronary vessels. The presence of a blood clot (thrombus) often leads to myocardial infarction.|MONDO|N|
C0010073|A brief and sudden narrowing of a coronary artery.|HPO|N|
C0010074|Malformations of CORONARY VESSELS, either arteries or veins. Included are anomalous origins of coronary arteries; ARTERIOVENOUS FISTULA; CORONARY ANEURYSM; MYOCARDIAL BRIDGING; and others.|MSH|N|
C0010078|Virus diseases caused by coronaviridae.|MONDO|N|
C0010093|A benign ovarian cyst that develops when fluid accumulates in a corpus luteum that failed to regress.|NCI|N|
C0010153|Infections with bacteria of the genus CORYNEBACTERIUM.|MSH|N|
C0010192|A synthetically-derived subunit of the endogenous peptide pituitary hormone adrenocorticotropic hormone (ACTH). Consisting of the first 24 amino acids from the amino terminal of ACTH, Cortrosyn is usually prepared for injection and intended for diagnostic and not therapeutic use. Similar to endogenous ACTH, this agent stimulates the adrenal secretion of specific adrenal steroids that can be measured in the plasma. (NCI04)|NCI|N|
C0010200|A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation.|HPO|N|
C0010201|A persistent cough, defined as a cough lasting longer than eight weeks in adults or longer than four weeks in children.|HPO|N|
C0010232|A mild, eruptive skin disease of milk cows caused by cowpox virus, with lesions occurring principally on the udder and teats. Human infection may occur while milking an infected animal.|MONDO|N|
C0010246|A heterogeneous group of infections produced by coxsackieviruses, including herpangina, aseptic meningitis (meningitis, aseptic), a common-cold-like syndrome, a non-paralytic poliomyelitis-like syndrome, epidemic pleurodynia (pleurodynia, epidemic) and a serious myocarditis.|MONDO|N|
C0010263|An involuntary contraction of a muscle in an extremity.|NCI|N|
C0010266|A neoplastic or non-neoplastic disorder that affects one of the cranial nerves.|NCI|N|
C0010267|Abnormal growth of the cells that comprise the cranial nerves.|NCI|N|
C0010269|A neuralgia that involves the cranial neuron projection bundle.|MONDO|N|
C0010273|Crouzon syndrome is an autosomal dominant disorder characterized by craniosynostosis causing secondary alterations of the facial bones and facial structure. Common features include hypertelorism, exophthalmos and external strabismus, parrot-beaked nose, short upper lip, hypoplastic maxilla, and a relative mandibular prognathism (Reardon et al., 1994; Glaser et al., 2000).|OMIM|N|
C0010276|A benign pituitary-region neoplasm that originates from Rathke's pouch. Craniopharyngiomas are benign slow growing tumors that are located within the sellar and para sellar region of the central nervous system.|HPO|N|
C0010278|Craniosynostosis refers to the premature closure of the cranial sutures. Primary craniosynostosis refers to the closure of one or more sutures due to abnormalities in skull development, and secondary craniosynostosis results from failure of brain growth.|HPO|N|
C0010308|Congenital hypothyroidism is a partial or complete loss of function of the thyroid gland (hypothyroidism) that affects infants from birth (congenital). The thyroid gland is a butterfly-shaped tissue in the lower neck. It makes iodine-containing hormones that play an important role in regulating growth, brain development, and the rate of chemical reactions in the body (metabolism). People with congenital hypothyroidism have lower-than-normal levels of these important hormones.\n\nCongenital hypothyroidism can also occur as part of syndromes that affect other organs and tissues in the body. These forms of the condition are described as syndromic. Some common forms of syndromic hypothyroidism include Pendred syndrome, Bamforth-Lazarus syndrome, and brain-lung-thyroid syndrome.\n\nCongenital hypothyroidism occurs when the thyroid gland fails to develop or function properly. In 80 to 85 percent of cases, the thyroid gland is absent, severely reduced in size (hypoplastic), or abnormally located. These cases are classified as thyroid dysgenesis. In the remainder of cases, a normal-sized or enlarged thyroid gland (goiter) is present, but production of thyroid hormones is decreased or absent. Most of these cases occur when one of several steps in the hormone synthesis process is impaired; these cases are classified as thyroid dyshormonogenesis. Less commonly, reduction or absence of thyroid hormone production is caused by impaired stimulation of the production process (which is normally done by a structure at the base of the brain called the pituitary gland), even though the process itself is unimpaired. These cases are classified as central (or pituitary) hypothyroidism.\n\nSigns and symptoms of congenital hypothyroidism result from the shortage of thyroid hormones. Affected babies may show no features of the condition, although some babies with congenital hypothyroidism are less active and sleep more than normal. They may have difficulty feeding and experience constipation. If untreated, congenital hypothyroidism can lead to intellectual disability and slow growth. In the United States and many other countries, all hospitals test newborns for congenital hypothyroidism. If treatment begins in the first two weeks after birth, infants usually develop normally.|MedlinePlus Genetics|N|
C0010314|Cri-du-chat syndrome was first described by Lejeune et al. (1963) as a hereditary congenital syndrome associated with deletion of part of the short arm of chromosome 5. The deletions can vary in size from extremely small and involving only band 5p15.2 to the entire short arm. Although the majority of deletions arise as new mutations, approximately 12% result from unbalanced segregation of translocations or recombination involving a pericentric inversion in one of the parents.|OMIM|N|
C0010324|Crigler-Najjar syndrome is a severe condition characterized by high levels of a toxic substance called bilirubin in the blood (hyperbilirubinemia). Bilirubin is produced when red blood cells are broken down. This substance is removed from the body only after it undergoes a chemical reaction in the liver, which converts the toxic form of bilirubin (called unconjugated bilirubin) to a nontoxic form called conjugated bilirubin. People with Crigler-Najjar syndrome have a buildup of unconjugated bilirubin in their blood (unconjugated hyperbilirubinemia).\n\nBilirubin has an orange-yellow tint, and hyperbilirubinemia causes yellowing of the skin and whites of the eyes (jaundice). In Crigler-Najjar syndrome, jaundice is apparent at birth or in infancy. Severe unconjugated hyperbilirubinemia can lead to a condition called kernicterus, which is a form of brain damage caused by the accumulation of unconjugated bilirubin in the brain and nerve tissues. Babies with kernicterus are often extremely tired (lethargic) and may have weak muscle tone (hypotonia). These babies may experience episodes of increased muscle tone (hypertonia) and arching of their backs. Kernicterus can lead to other neurological problems, including involuntary writhing movements of the body (choreoathetosis), hearing problems, or intellectual disability.\n\nCrigler-Najjar syndrome is divided into two types. Type 1 (CN1) is very severe, and affected individuals can die in childhood due to kernicterus, although with proper treatment, they may survive longer. Type 2 (CN2) is less severe. People with CN2 are less likely to develop kernicterus, and most affected individuals survive into adulthood.|MedlinePlus Genetics|N|
C0010334|Criss cross heart (CCH) is a cardiac malformation where the inflow streams of the two ventricles cross due to twisting of the heart about its major axis. The clinical features depend on the particular cardiac defects associated, like simple or corrected transposition of the great arteries and ventricular septal defects.|ORDO|N|
C0010340|A disease or state in which death is possible or imminent.|MSH|N|
C0010346|A chronic granulomatous inflammatory disease of the intestines that may affect any part of the gastrointestinal tract from mouth to anus, causing a wide variety of symptoms. It primarily causes abdominal pain, diarrhea which may be bloody, vomiting, or weight loss, but may also cause complications outside of the gastrointestinal tract such as skin rashes, arthritis, inflammation of the eye, tiredness, and lack of concentration. Crohn's disease is thought to be an autoimmune disease, in which the body's immune system attacks the gastrointestinal tract, causing inflammation.|HPO|N|
C0010356|Infection associated with hospitalisation, not present or incubating prior to admission, but generally occurring more than 72 hours after admission.|SNOMEDCT_US|N|
C0010357|A molecular interaction between a ligand molecule and a receptor molecule, where the ligand and receptor are not conventional partners. This interaction can occur because the ligand molecule shares structural features with the archetypal ligand.|NCI|N|
C0010380|Acute upper respiratory airways infection that results in the swelling of the larynx. It is usually caused by parainfluenza viruses. Signs include a characteristic barking cough and stridor.|NCI|N|
C0010392|A medical condition characterized by major shock and renal failure after a crushing injury to skeletal muscle.|MONDO|N|
C0010398|Liver cirrhosis with intrahepatic portal obstruction, HYPERTENSION, and patent UMBILICAL VEINS.|MSH|N|
C0010403|Increased level of cryoglobulins in the blood. Cryoglobulins are abnormal immunoglobulins, especially IGG or IGM, that precipitate spontaneously when serum is cooled below 37 degrees Celsius.|HPO|N|
C0010414|A cosmopolitan fungal infection due to <i>Cryptococcus neoformans</i>.|ORDO|N|
C0010417|Cryptorchidism, or failure of testicular descent, is a common human congenital abnormality with a multifactorial etiology that likely reflects the involvement of endocrine, environmental, and hereditary factors. Cryptorchidism can result in infertility and increases risk for testicular tumors. Testicular descent from abdomen to scrotum occurs in 2 distinct phases: the transabdominal phase and the inguinoscrotal phase (summary by Gorlov et al., 2002).|OMIM|N|
C0010418|An infection that is caused by Cryptosporidium parvum or hominis, which is acquired by inhalation or ingestion of infectious spores, and which typically manifests as acute enteritis.|NCI|N|
C0010474|Acute stress DUODENAL ULCER, usually observed in patients with extensive third-degree burns.|MSH|N|
C0010481|Cushing's syndrome (CS) encompasses a group of hormonal disorders caused by prolonged and high exposure levels to glucocorticoids that can be of either endogenous (adrenal cortex production) or exogenous (iatrogenic) origin.|ORDO|N|
C0010495|Wrinkled, redundant, inelastic and sagging skin.|HPO|N|
C0010520|Bluish discoloration of the skin and mucosa due to poor circulation or inadequate oxygenation of arterial or capillary blood.|HPO|N|
C0010543|Inflammation of the ciliary body.|NCI|N|
C0010590|An analogue of the amino acid D-alanine with broad-spectrum antibiotic and glycinergic activities. D-cycloserine interferes with bacterial cell wall synthesis by competitively inhibiting two enzymes, L-alanine racemase and D-alanine:D-alanine ligase, thereby impairing peptidoglycan formation necessary for bacterial cell wall synthesis. This agent may be bactericidal or bacteriostatic, depending on its concentration at the infection site and the susceptibility of the organism. In addition, D-cycloserine is an excitatory amino acid and partial agonist at the glycine binding site of the NMDA receptor in the central nervous system (CNS); binding to the central NMDA receptor may result in amelioration of neuropathic pain.|NCI|N|
C0010598|An affective disorder characterized by periods of depression and hypomania. These may be separated by periods of normal mood.|MONDO|N|
C0010606|A malignant tumor arising from the epithelial cells. Microscopically, the neoplastic epithelial cells form cylindrical spatial configurations (cribriform or classic type of adenoid cystic carcinoma), cordlike structures (tubular type of adenoid cystic carcinoma), or solid structures (basaloid variant of adenoid cystic carcinoma). Adenoid cystic carcinomas mostly occur in the salivary glands. Other primary sites of involvement include the lacrimal gland, the larynx, and the lungs. Adenoid cystic carcinomas spread along nerve sheaths, resulting in severe pain, and they tend to recur. Lymph node metastases are unusual; hematogenous tumor spread is characteristic.|NCI|N|
C0010631|A malignant cystic epithelial neoplasm arising from the glandular epithelium. The malignant epithelial cells invade the stroma. The cystic spaces contain serous or mucinous fluid. Representative examples include ovarian and pancreatic cystadenocarcinomas.|NCI|N|
C0010633|A benign or borderline cystic epithelial neoplasm arising from the glandular epithelium. The epithelial cells line the cystic spaces which contain serous or mucinous fluid. Representative examples include ovarian and pancreatic cystadenomas.|NCI|N|
C0010635|A benign or low malignant potential cystic epithelial neoplasm composed of cells which contain intracytoplasmic mucin. It may arise from the ovary, pancreas, appendix, and lung.|NCI|N|
C0010636|A serous or mucinous benign or low malignant potential cystic epithelial neoplasm. It is characterized by the presence of glandular epithelial cells forming papillary structures.|NCI|N|
C0010666|A severe type of acne characterized by the formation of cysts enclosing a mixture of keratin and sebum.|HPO|N|
C0010668|Congenital pulmonary airway malformation (CPAM) - previously known as congenital cystic adenomatoid malformation (CCAM) - is a relatively rare developmental malformation of the lower respiratory tract. It is a hamartomatous, dysplastic developmental abnormality of the lung characterized by abnormal airway patterning during lung branching morphogenesis and is formed by abnormal branching of the immature bronchioles.|HPO|N|
C0010673|Benign endometrial hyperplasia characterized by the presence of cystically dilated glands.|NCI|N|
C0010674|Cystic fibrosis (CF) is a multisystem disease affecting epithelia of the respiratory tract, exocrine pancreas, intestine, hepatobiliary system, and exocrine sweat glands. Morbidities include recurrent sinusitis and bronchitis, progressive obstructive pulmonary disease with bronchiectasis, exocrine pancreatic deficiency and malnutrition, pancreatitis, gastrointestinal manifestations (meconium ileus, rectal prolapse, distal intestinal obstructive syndrome), liver disease, diabetes, male infertility due to hypoplasia or aplasia of the vas deferens, and reduced fertility or infertility in some women. Pulmonary disease is the major cause of morbidity and mortality in CF.|GeneReviews|N|
C0010678|Cysticercosis is a parasitic infectious disease characterized by cyst formation in the target tissue of <i>Taenia solium</i> (tapeworm) parasite larvae ingested via the feces of a human with a tapeworm (human-to-human fecal-oral transmission) leading to variable clinical manifestations in muscle, the brain, spinal cord, and eyes. Infection of muscle tissue is generally asymptomatic. Cyst development in the brain and spinal cord is known as neurocysticercosis (NCC) and may cause seizures and headache. NCC can follow a serious course and may be life-threatening. Severe cases of cysticercosis are treated with albendazole and anti-inflammatory drugs.|ORDO|N|
C0010691|Cystinuria is an autosomal disorder characterized by impaired epithelial cell transport of cystine and dibasic amino acids (lysine, ornithine, and arginine) in the proximal renal tubule and gastrointestinal tract. The impaired renal reabsorption of cystine and its low solubility causes the formation of calculi in the urinary tract, resulting in obstructive uropathy, pyelonephritis, and, rarely, renal failure (summary by Barbosa et al., 2012).|OMIM|N|
C0010692|Inflammation of the urinary bladder.|HPO|N|
C0010695|A HERNIA-like condition in which the weakened pelvic muscles cause the URINARY BLADDER to drop from its normal position. Fallen urinary bladder is more common in females with the bladder dropping into the VAGINA and less common in males with the bladder dropping into the SCROTUM.|MSH|N|
C0010701|A benign, borderline, or malignant fibroepithelial neoplasm arising from the breast and rarely the prostate gland. It may recur following resection. The recurrence rates are higher for borderline and malignant phyllodes tumors. In borderline and malignant phyllodes tumors metastases to distant anatomic sites can occur. The incidence of metastases is higher in malignant phyllodes tumors.|NCI|N|
C0010709|A sac-like closed membranous structure that may be empty or contain fluid or amorphous material.|NCI|N|
C0010823|A herpesvirus infection caused by Cytomegalovirus. Healthy individuals generally do not produce symptoms. However, the infection may be life-threatening in affected immunocompromised patients. The virus may cause retinitis, esophagitis, gastritis, and colitis. Morphologically, it is characterized by the presence of intranuclear inclusion bodies.|NCI|N|
C0010827|Structural changes in host cells that are caused by viral invasion.|NCI|N|
C0010828|A laboratory test result indicating an abnormally low quantity of circulating blood cells.|NCI|N|
C0010930|Inflammation of the nasolacrimal sac.|HPO|N|
C0010964|Dandy-Walker malformation is defined by hypoplasia and upward rotation of the cerebellar vermis and cystic dilation of the fourth ventricle. Affected individuals often have motor deficits such as delayed motor development, hypotonia, and ataxia; about half have mental retardation and some have hydrocephalus. DWM is a heterogeneous disorder. The low empiric recurrence risk of approximately 1 to 2% for nonsyndromic DWM suggests that mendelian inheritance is unlikely (summary by Murray et al., 1985).|OMIM|N|
C0011053|An inherited or acquired condition characterized by the inability to hear in one or both ears.|NCI|N|
C0011057|Sensorineural hearing loss which develops suddenly over a period of hours or a few days. It varies in severity from mild to total deafness. Sudden deafness can be due to head trauma, vascular diseases, infections, or can appear without obvious cause or warning.|MSH|N|
C0011071|Rapid and unexpected death.|HPO|N|
C0011085|The loss of calcium salts from bones and teeth. Bacteria may be responsible for this occurrence in teeth. Old age may be a factor contributing to calcium loss, as is the presence of diseases such as rheumatoid arthritis.|MSH|N|
C0011103|A type of rigidity that is manifested by an exaggerated extensor posture of all extremities.|HPO|N|
C0011119|A condition occurring as a result of exposure to a rapid fall in ambient pressure. Gases, nitrogen in particular, come out of solution and form bubbles in body fluid and blood. These gas bubbles accumulate in joint spaces and the peripheral circulation impairing tissue oxygenation causing disorientation, severe pain, and potentially death.|MONDO|N|
C0011124|Decreased sexual desire.|HPO|N|
C0011156|A condition produced by dietary or metabolic deficiency. The term includes all diseases caused by an insufficient supply of essential nutrients, i.e., protein (or amino acids), vitamins, and minerals. It also includes an inadequacy of calories. (From Dorland, 27th ed; Stedman, 25th ed)|MSH|N|
C0011168|Difficulty in swallowing.|HPO|N|
C0011175|A condition resulting from the excessive loss of water from the body. It is usually caused by severe diarrhea, vomiting or diaphoresis.|NCI|N|
C0011194|A subjective feeling that an experience which is occurring for the first time has been experienced before.|HPO|N|
C0011195|Dejerine-Sottas neuropathy is a demyelinating peripheral neuropathy with onset in infancy. It can show autosomal dominant or recessive inheritance. Affected individuals have delayed motor development due to severe distal motor and sensory impairment, resulting in difficulties in gait. Some patients have generalized hypotonia in infancy. Other features may include pes cavus, scoliosis, and sensory ataxia. Nerve conduction velocities are severely decreased (sometimes less than 10 m/s), and sural nerve biopsy shows severe loss of myelinated fibers (summary by Baets et al., 2011).|OMIM|N|
C0011206|A state of sudden and severe confusion.|HPO|N|
C0011226|Hepatitis delta is a rare hepatic disease characterized by variable degrees of acute hepatitis resulting from infection with the hepatitis delta virus. Occasionally it may present a benign course, but most frequently it manifests with severe liver disease that may include fulminant liver failure, hepatic decompensation and rapid progression to cirrhosis. All patients present concomitant hepatitis B virus infection and an increased risk of developing hepatocellular carcinoma has been reported.|ORDO|N|
C0011251|A disorder characterized by the presence of one or more nonbizarre delusions that persist for at least 1 month; the delusion(s) are not due to schizophrenia or a mood disorder, and do not impair psychosocial functioning apart from the ramifications of the delusion(s).|NCI|N|
C0011253|A delusion is a fixed false belief held despite evidence to the contrary. The term delusion broadly encompasses all false judgments that possess the following external characteristics to a significant, albeit unspecified, extent|HPO|N|
C0011263|A common form of dementia caused by multiple cortical or subcortical cerebral infarctions.|NCI|N|
C0011265|The presence of dementia in an individual younger than age sixty five.|NCI|N|
C0011268|Loss of intellectual abilities in an elderly person, interfering with this person''s activities.|NCI|N|
C0011269|A degenerative vascular disorder affecting the brain. It is caused by the blockage of the blood supply to the brain. It is manifested with decline of memory and cognitive functions.|NCI|N|
C0011302|Any condition in which there is degeneration of the myelin sheath that covers the nerves of the central nervous system.|NCI|N|
C0011303|A broad group of disorders that affect the myelin sheaths that cover the neurons. Myelin sheathes cover neuronal axons in the central and peripheral nervous system and function to increase travelling impulse speeds. Disruption of this sheath impairs neuronal transmission and can result in disorders such as multiple sclerosis and Guillain-Barre syndrome, among others.|NCI|N|
C0011304|Breakdown, or abnormal development, of a nerve fiber myelin sheath.|NCI|N|
C0011311|Dengue fever (DF), caused by dengue virus, is an arboviral disease characterized by an initial non-specific febrile illness that can sometimes progress to more severe forms manifesting capillary leakage and hemorrhage (dengue hemorrhagic fever, or DHF) and shock (dengue shock syndrome, or DSS).|ORDO|N|
C0011320|An abnormality of the incisor characterized by invagination of the enamel, giving a radiographic appearance that suggests a tooth within a tooth.|HPO|N|
C0011330|Mineralized deposit that forms on the teeth or dental prostheses.|NCI|N|
C0011334|Caries is a multifactorial bacterial infection affecting the structure of the tooth. This term has been used to describe the presence of more than expected dental caries.|HPO|N|
C0011346|Accumulations of microflora that lead to pathological plaque and calculus which cause PERIODONTAL DISEASES. It can be considered a type of BIOFILMS. It is subtly distinguished from the protective DENTAL PELLICLE.|MSH|N|
C0011351|Developmental hypoplasia of the dental enamel.|HPO|N|
C0011361|An abnormal passage in the oral cavity on the gingiva.|MSH|N|
C0011378|The seepage of fluids, debris, and micro-organisms between the walls of a prepared dental cavity and the restoration.|MSH|N|
C0011383|Dental occlusion in which the occlusal contact of the teeth on the working side of the jaw is accompanied by the harmonious contact of the teeth on the opposite (balancing) side. (From Jablonski, Dictionary of Dentistry, 1992, p556)|MSH|N|
C0011389|A biofilm that contains numerous microorganisms that adheres to the teeth.|NCI|N|
C0011401|CALCINOSIS of the DENTAL PULP or ROOT CANAL.|MSH|N|
C0011405|A disorder that affects the dental pulp tissue. Examples include inflammation, calcification, and dental pulp exposure.|NCI|N|
C0011406|The result of pathological changes in the hard tissue of a tooth caused by carious lesions, mechanical factors, or trauma, which render the pulp susceptible to bacterial invasion from the external environment.|MONDO|N|
C0011407|Death of pulp tissue with or without bacterial invasion. When the necrosis is due to ischemia with superimposed bacterial infection, it is referred to as pulp gangrene. When the necrosis is non-bacterial in origin, it is called pulp mummification.|MONDO|N|
C0011428|An odontogenic cyst that is attached to the cervical region of an unerupted tooth and envelops the crown. (WHO 2017)|NCI|N|
C0011430|This is a bundled term as dentin dysplasia is composed of short roots with pointed ends and taurodontism and intrapulpal calcifications.|HPO|N|
C0011432|Pain or discomfort caused by exposure of the dentin layer of tooth to thermal, tactile, or other stimuli.|NCI|N|
C0011434|Dentin formed by normal pulp after completion of root end formation.|MONDO|N|
C0011436|Developmental dysplasia of dentin.|HPO|N|
C0011548|A disorder characterized by an enduring pattern of an extreme need to be taken care of together with fear of separation that lead the individual to urgently seek out and submit to another person and allow that person to make decisions that impact all areas of the individual''s life.|NCI|N|
C0011551|A psychological experience or symptom characterized by a sense of detachment or estrangement from oneself or one's surroundings.|HPO|N|
C0011572|The decrease in a measurable parameter of a PHYSIOLOGICAL PROCESS, including cellular, microbial, and plant; immunological, cardiovascular, respiratory, reproductive, urinary, digestive, neural, musculoskeletal, ocular, and skin physiological processes; or METABOLIC PROCESS, including enzymatic and other pharmacological processes, by a drug or other chemical.|MSH|N|
C0011573|Depression which is considered strictly biological.|NCI|N|
C0011574|Form of depression in those MIDDLE AGE with feelings of ANXIETY.|MSH|N|
C0011579|Depression precipitated by events in a person''s life.|NCI|N|
C0011581|Frequently experiencing feelings of being down, miserable, and/or hopeless; struggling to recover from these moods; having a pessimistic outlook on the future; feeling a pervasive sense of shame; having a low self-worth; experiencing thoughts of suicide and engaging in suicidal behavior.|HPO|N|
C0011603|An inflammatory process affecting the skin. Signs include red rash, itching, and blister formation. Representative examples are contact dermatitis, atopic dermatitis, and seborrheic dermatitis.|NCI|N|
C0011606|An inflammatory exfoliative dermatosis involving nearly all of the surface of the skin. Erythroderma develops suddenly. A patchy erythema may generalize and spread to affect most of the skin. Scaling may appear in 2-6 days and be accompanied by hot, red, dry skin, malaise, and fever.|HPO|N|
C0011608|A chronic autoimmune subepidermal bullous disease characterized by grouped pruritic lesions such as papules, urticarial plaques, erythema, and herpetiform vesiculae, with a predominantly symmetrical distribution on extensor surfaces of the elbows (90%), knees (30%), shoulders, buttocks, sacral region, and face of children and adults. Erosions, excoriations and hyperpigmentation usually follow. It may also appear as a consequence of gluten intolerance.|ORDO|N|
C0011609|An eruption in the skin due to exposure to a pharmacologic substance.|NCI|N|
C0011615|Atopic dermatitis (ATOD), also known as eczema, is a common chronic pruritic inflammatory skin disease with a strong genetic component. Onset typically occurs during the first 2 years of life (review by Soderhall et al., 2007).
Genetic Heterogeneity of Atopic Dermatitis
Many inflammatory diseases, such as atopic eczema, are genetically complex, with multiple alleles at several loci thought to be involved in their pathogenesis. Several susceptibility loci for atopic dermatitis have been identified: ATOD1 on chromosome 3q21, ATOD2 (605803) on chromosome 1q21, ATOD3 (605804) on chromosome 20p, ATOD4 (605805) on chromosome 17q25.3, ATOD5 (603165) on chromosome 13q12-q14, ATOD6 (605845) on chromosome 5q31-q33, ATOD7 (613064) on chromosome 11q13.5, ATOD8 (613518) on chromosome 4q22.1, and ATOD9 (613519) on chromosome 3p24.|OMIM|N|
C0011616|An inflammatory process in skin caused by an exogenous agent that directly or indirectly injure the skin. If the offending agent is identified and removed, the eruption will resolve. An unusual or patterned eruption may be a clue to the presence of a contact dermatitis. Patch testing may be helpful in the differential diagnosis.|HPO|N|
C0011620|Stasis dermatitis commonly occurs in older age. It is caused by venous hypertension resulting from retrograde flow due to incompetent venous valves, valve destruction, or obstruction of the venous system. Further tissue changes arise from an inflammatory process mediated by metalloproteinases, which are up-regulated by ferric ion from extravasated red blood cells. Stasis dermatitis presents initially as poorly demarcated erythematous plaques of the lower legs bilaterally, classically involving the medial malleolus.|HPO|N|
C0011630|Fungal infection of skin.|SNOMEDCT_US|N|
C0011633|A rare idiopathic inflammatory myopathy (IIM) characterized by evocative skin lesions, muscle involvement with symmetrical proximal muscle weakness, and specific histological features. The clinical subtypes are defined by the presence of myositis-specific antibodies (anti-Mi2, anti-NXP2, anti-TIF1-&#947;, anti-MDA5, or anti-SAE antibodies) and are associated with specific clinical phenotypes and prognosis.|ORDO|N|
C0011636|A common fungal infection of the stratum corneum of the skin, hair, or nails by a dermatophyte. It is characterized by itching, inflammation, redness of the skin, small papular vesicles, central clearing, fissures, scaling, and/or hair loss in the affected area.|NCI|N|
C0011638|Dermatophytosis involving the stratum corneum of the skin of the groin and perianal area.|NCI|N|
C0011640|Dermatophytosis involving the stratum corneum of the skin of the scalp and beard area.|NCI|N|
C0011644|A chronic autoimmune phenomenon characterized by fibrosis (or hardening) and vascular alterations of the skin.|HPO|N|
C0011645|A benign skin condition commonly seen in dark-skinned individuals that is characterized by multiple small hyperpigmented papular lesions resembling seborrheic keratosis on the face and upper body.|NCI|N|
C0011649|A congenital subcutaneous cyst that arises from entrapment of skin along the lines of embryonic fusion. In contrast to epidermal cysts, dermoid cysts tend to contain various adnexal structures such as hair, sebaceous, eccrine or apocrine glands. Dermoid cysts are present at birth, and are indolent, firm, deep, subcutaneous nodules. They are often located on the head and neck, and rarely in the anogenital area. Dermoid cysts are slowly progressive and can grow to a size of 1 to 4 cm.|HPO|N|
C0011757|A disorder characterized by an impairment in the development of an individual''s motor coordination skills; this impairment in motor development is not due to a medical condition.|NCI|N|
C0011813|The heart is located in the right hand sided hemithorax. That is, there is a left-right reversal (or "mirror reflection") of the anatomical location of the heart in which the heart is locate on the right side instead of the left.|HPO|N|
C0011848|A state of excessive water intake and hypotonic (dilute) polyuria. Diabetes insipidus may be due to failure of vasopressin (AVP) release (central or neurogenic diabetes insipidus) or to a failure of the kidney to respond to AVP (nephrogenic diabetes insipidus).|HPO|N|
C0011849|A group of abnormalities characterized by hyperglycemia and glucose intolerance.|HPO|N|
C0011854|Type 1 diabetes mellitus (T1D), also designated insulin-dependent diabetes mellitus (IDDM), is a disorder of glucose homeostasis characterized by susceptibility to ketoacidosis in the absence of insulin therapy. It is a genetically heterogeneous autoimmune disease affecting about 0.3% of Caucasian populations (Todd, 1990). Genetic studies of T1D have focused on the identification of loci associated with increased susceptibility to this multifactorial phenotype.
The classic phenotype of diabetes mellitus is polydipsia, polyphagia, and polyuria which result from hyperglycemia-induced osmotic diuresis and secondary thirst. These derangements result in long-term complications that affect the eyes, kidneys, nerves, and blood vessels.|OMIM|N|
C0011859|A rare syndrome characterized by almost complete absence of body fat, accentuated muscularity, insulin-resistant diabetes, hyperlipidemia, hepatomegaly, and hypermetabolism.|NCI|N|
C0011860|Type 2 diabetes mellitus is distinct from maturity-onset diabetes of the young (see 606391) in that it is polygenic, characterized by gene-gene and gene-environment interactions with onset in adulthood, usually at age 40 to 60 but occasionally in adolescence if a person is obese. The pedigrees are rarely multigenerational. The penetrance is variable, possibly 10 to 40% (Fajans et al., 2001). Persons with type 2 diabetes usually have an obese body habitus and manifestations of the so-called metabolic syndrome (see 605552), which is characterized by diabetes, insulin resistance, hypertension, and hypertriglyceridemia.
Genetic Heterogeneity of Susceptibility to Type 2 Diabetes
Susceptibility to T2D1 (601283) is conferred by variation in the calpain-10 gene (CAPN10; 605286) on chromosome 2q37. The T2D2 locus (601407) on chromosome 12q was found in a Finnish population. The T2D3 locus (603694) maps to chromosome 20. The T2D4 locus (608036) maps to chromosome 5q34-q35. Susceptibility to T2D5 (616087) is conferred by variation in the TBC1D4 gene (612465) on chromosome 13q22.
A mutation has been observed in hepatocyte nuclear factor-4-alpha (HNF4A; 600281.0004) in a French family with NIDDM of late onset. Mutations in the NEUROD1 gene (601724) on chromosome 2q32 were found to cause type 2 diabetes mellitus in 2 families. Mutation in the GLUT2 glucose transporter was associated with NIDDM in 1 patient (138160.0001). Mutation in the MAPK8IP1 gene, which encodes the islet-brain-1 protein, was found in a family with type 2 diabetes in individuals in 4 successive generations (604641.0001). Polymorphism in the KCNJ11 gene (600937.0014) confers susceptibility. In French white families, Vionnet et al. (2000) found evidence for a susceptibility locus for type 2 diabetes on 3q27-qter. They confirmed the diabetes susceptibility locus on 1q21-q24 reported by Elbein et al. (1999) in whites and by Hanson et al. (1998) in Pima Indians. A mutation in the GPD2 gene (138430.0001) on chromosome 2q24.1, encoding mitochondrial glycerophosphate dehydrogenase, was found in a patient with type 2 diabetes mellitus and in his glucose-intolerant half sister. Mutations in the PAX4 gene (167413) have been identified in patients with type 2 diabetes. Triggs-Raine et al. (2002) stated that in the Oji-Cree, a gly319-to-ser change in HNF1-alpha (142410.0008) behaves as a susceptibility allele for type 2 diabetes. Mutation in the HNF1B gene (189907.0007) was found in 2 Japanese patients with typical late-onset type 2 diabetes. Mutations in the IRS1 gene (147545) have been found in patients with type 2 diabetes. A missense mutation in the AKT2 gene (164731.0001) caused autosomal dominant type 2 diabetes in 1 family. A (single-nucleotide polymorphism) SNP in the 3-prime untranslated region of the resistin gene (605565.0001) was associated with susceptibility to diabetes and to insulin resistance-related hypertension in Chinese subjects. Susceptibility to insulin resistance has been associated with polymorphism in the TCF1 (142410.0011), PPP1R3A (600917.0001), PTPN1 (176885.0001), ENPP1 (173335.0006), IRS1 (147545.0002), and EPHX2 (132811.0001) genes. The K121Q polymorphism of ENPP1 (173335.0006) is associated with susceptibility to type 2 diabetes; a haplotype defined by 3 SNPs of this gene, including K121Q, is associated with obesity, glucose intolerance, and type 2 diabetes. A SNP in the promoter region of the hepatic lipase gene (151670.0004) predicts conversion from impaired glucose tolerance to type 2 diabetes. Variants of transcription factor 7-like-2 (TCF7L2; 602228.0001), located on 10q, have also been found to confer risk of type 2 diabetes. A common sequence variant, rs10811661, on chromosome 9p21 near the CDKN2A (600160) and CDKN2B (600431) genes has been associated with risk of type 2 diabetes. Variation in the PPARG gene (601487) has been associated with risk of type 2 diabetes. A promoter polymorphism in the IL6 gene (147620) is associated with susceptibility to NIDDM. Variation in the KCNJ15 gene (602106) has been associated with T2DM in lean Asians. Variation in the SLC30A8 gene (611145) has been associated with susceptibility to T2D. Variation in the HMGA1 gene (600701.0001) is associated with an increased risk of type 2 diabetes. Mutation in the MTNR1B gene (600804) is associated with susceptibility to type 2 diabetes.
Protection Against Type 2 Diabetes Mellitus
Protein-truncating variants in the SLC30A8 (611145) have been associated with a reduced risk for T2D.|OMIM|N|
C0011871|Diabetic angiopathy is a form of angiopathy associated with diabetic complications.|MONDO|N|
C0011875|Vascular disorders resulting from diabetes mellitus.|NCI|N|
C0011876|rare, usually bilateral, opacity shaped like a snowflake, affecting the anterior and posterior cortices of young diabetics; sometimes it can be reversed when the blood glucose is brought under control, but in most cases it progresses rapidly to a mature cataract.|CSP|N|
C0011880|A type of diabetic metabolic abnormality with an accumulation of ketone bodies.|HPO|N|
C0011881|Progressive kidney disorder caused by vascular damage to the glomerular capillaries, in patients with diabetes mellitus. It is usually manifested with nephritic syndrome and glomerulosclerosis.|NCI|N|
C0011882|A chronic, pathological complication associated with diabetes mellitus, where nerve damages are incurred due to diabetic microvascular injury involving small blood vessels that supply these nerves, resulting in peripheral and/or autonomic nerve dysfunction.|NCI|N|
C0011884|A chronic, pathological complication associated with diabetes mellitus, where retinal damages are incurred due to microaneurysms in the vasculature of the retina, progressively leading to abnormal blood vessel growth, and swelling and leaking of fluid from blood vessels, resulting in vision loss or blindness.|NCI|N|
C0011974|An inflammatory skin condition in the diaper area that may be caused by irritation or infection.|NCI|N|
C0011981|A congenital failure of muscular development of part or all of one or both hemidiaphragms, resulting in superior displacement of abdominal viscera and altered lung development.|HPO|N|
C0011989|Camurati-Engelmann disease (CED) is characterized by hyperostosis of the long bones and the skull, proximal muscle weakness, limb pain, a wide-based, waddling gait, and joint contractures. Facial features such as macrocephaly, frontal bossing, enlargement of the mandible, proptosis, and cranial nerve impingement resulting in facial palsy are seen in severely affected individuals later in life.|GeneReviews|N|
C0011991|Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day.|HPO|N|
C0011992|Diarrhea occurring in infants from newborn to 24-months old.|MONDO|N|
C0011993|VIPoma is an extremely rare type of pancreatic neuroendocrine tumor (see this term) that secretes vasoactive intestinal polypeptide (VIP) leading to the manifestations of watery diarrhea, hypokalemia and achlorhydia or hypochhlorhydia (known as WDHA syndrome).|ORDO|N|
C0011998|Increased space between two adjacent teeth in the same dental arch.|HPO|N|
C0011999|A rare, neural tube defect characterized by localized longitudinal division of the spinal cord with an interposed osseous, cartilaginous or fibrous septum and double dural sac, typically occurring at the thoracic or lumbar level. Local vertebral segmental defects, syringomyelia, meningocele and intraspinal tumors may be associated. Variable clinical presentation includes pain, scoliosis, asymmetry and weakness of the lower limbs, neurological deficits, sphincter dysfunction, and various cutaneous abnormalities overlying the spine, such as hypertrichosis, dimple, hemangioma, subcutaneous mass or pigmented nevus.|ORDO|N|
C0012102|Infection with flukes of the genus Dicrocoelium.|MONDO|N|
C0012118|Infection with nematodes of the genus DICTYOCAULUS. In deer, cattle, sheep, and horses the bronchi are the site of infestation.|MSH|N|
C0012147|Gastrointestinal infection with organisms of the genus dientamoeba.|MONDO|N|
C0012156|Diets which become fashionable, but which are not necessarily nutritious.(Lehninger 1982, page 484)|MSH|N|
C0012166|An approach to nutrition based on whole cereal grains, beans, cooked vegetables and the Chinese YIN-YANG principle. It advocates a diet consisting of organic and locally grown foods, seasonal vegetables, complex carbohydrates, and fewer fats, sugars, and chemically processed foods.|MSH|N|
C0012236|Individuals with 22q11.2 deletion syndrome (22q11.2DS) can present with a wide range of features that are highly variable, even within families. The major clinical manifestations of 22q11.2DS include congenital heart disease, particularly conotruncal malformations (ventricular septal defect, tetralogy of Fallot, interrupted aortic arch, and truncus arteriosus), palatal abnormalities (velopharyngeal incompetence, submucosal cleft palate, bifid uvula, and cleft palate), immune deficiency, characteristic facial features, and learning difficulties. Hearing loss can be sensorineural and/or conductive. Laryngotracheoesophageal, gastrointestinal, ophthalmologic, central nervous system, skeletal, and genitourinary anomalies also occur. Psychiatric illness and autoimmune disorders are more common in individuals with 22q11.2DS.|GeneReviews|N|
C0012242|Diseases in any part of the GASTROINTESTINAL TRACT or the accessory organs (LIVER; BILIARY TRACT; PANCREAS).|MSH|N|
C0012243|A tumor (abnormal growth of tissue) of the digestive system.|HPO|N|
C0012359|A pathophysiological process characterized by the dilatation or expansion of a hollow, tubular tissue or organ.|NCI|N|
C0012482|A disease caused by infection with Dioctophyme renale.|MONDO|N|
C0012517|A parasitic infection caused by genus of filarial worms called Dipetalonema. It produces microfilariae in the blood and body fluids.|NCI|N|
C0012546|A rare bacterial infectious disease characterized by an affliction of the upper respiratory tract mediated by the toxin of <i>Corynebacterium diphtheriae</i>. Symptoms include formation of an inflammatory pseudomembrane, fever, sore throat, headaches, coughing, dysphagia, dyspnea, and prominently swollen cervical lymph nodes. The disease may lead to respiratory failure and severe toxin-mediated damage of internal organs, including the heart and kidneys. A cutaneous form of diphtheria is more common in tropical climates and usually follows an indolent course.|ORDO|N|
C0012553|Infection of the anterior nasal structures by Corynebacterium diphtheriae.|NCI|N|
C0012554|Pseudomembranous colitis resulting from infection by Corynebacterium diphtheriae.|NCI|N|
C0012555|A usually mild form of diphtheria characterized by infection of the skin by corynebacterium diphtheria and the resulting formation of a chronic, shallow ulcer that is sometimes bordered or followed by a bulla.|NCI|N|
C0012556|Infection of the fauces by Corynebacterium diphtheriae.|NCI|N|
C0012557|Infection of the larynx by Corynebacterium diphtheriae.|NCI|N|
C0012558|Infection of the nasopharynx by Corynebacterium diphtheriae.|NCI|N|
C0012561|Bothriocephalosis is a mammalian cosmopolitan intestinal parasitosis. In addition to non-specific digestive problems (nausea, abdominal pain, lack of appetite), bothriocephalosis provokes an anaemia caused by vitamin B12 deficiency that resembles Biermer anaemia (anaemia characterised by abnormally large red blood cells).|ORDO|N|
C0012569|Diplopia is a condition in which a single object is perceived as two images, it is also known as double vision.|HPO|N|
C0012602|Dirofilariasis is a form of filariasis (see this term), caused by the filarial nematode of the genus <i>Dirofilaria</i> (including <i>Dirofilaria repens</i>, <i>Dirofilaria immitis</i>), which is transmitted by mosquitoes. The disease is characterized by the presence of subcutaneous nodules (or a conjunctival form that develops slowly and that can be painless to tender), edema and erythema at the site of parasite localization, a feeling of 'crawling' under the skin, and the ''Calabar'' swelling (similar to thatin loiasis (see this term). The latter may last a few days and recurrences are possible. Common localizations of dirofilaria are head and neck, most commonly in the periorbital region, the limbs and trunk.|ORDO|N|
C0012624|Inflammation of an intervertebral disk or disk space.|HPO|N|
C0012628|A type of constriction that is caused by the presence of a fibrous ring (discrete type) below the aortic valve, anywhere between the aortic valve and the mitral valve. It is characterized by restricted outflow from the left ventricle into the aorta.|MONDO|N|
C0012634|A disorder with homogeneous therapeutic possibilities and an identified pathophysiological mechanism. Developmental anomalies are excluded.|ORDO|N|
C0012655|A constitution or condition of the body which makes the tissues react in special ways to certain extrinsic stimuli and thus tends to make the individual more than usually susceptible to certain diseases.|MONDO|N|
C0012675|Disorders affecting TWINS, one or both, at any age.|MSH|N|
C0012691|Displacement or malalignment of joints.|HPO|N|
C0012714|An inherited metabolic disease that is has its basis in the disruption of cellular copper ion homeostasis.|MONDO|N|
C0012715|Disorders in the processing of iron in the body: its absorption, transport, storage, and utilization.|MONDO|N|
C0012734|A classification of disorders in the Diagnostic and Statistical Manual of Mental Disorders (DSM) that are usually diagnosed in infancy, childhood or adolescence and are characterized by an individual''s inability to behave in a cooperative manner.|NCI|N|
C0012736|A dissecting aneurysm formed between the intimal and medial layers of the aortic wall due to a tear in the tunica intima.|NCI|N|
C0012739|Disseminated intravascular coagulation is characterized by the widespread activation of coagulation, which results in the intravascular formation of fibrin and ultimately thrombotic occlusion of small and midsize vessels.|HPO|N|
C0012746|Disruption or detachment of certain aspects of one's normal psychological functioning typically involves a disconnection or separation from thoughts, feelings, sensations, memories, or one's sense of identity or reality.|HPO|N|
C0012754|A name for several highly contagious viral diseases of animals, especially canine distemper. In dogs, it is caused by the canine distemper virus (DISTEMPER VIRUS, CANINE). It is characterized by a diphasic fever, leukopenia, gastrointestinal and respiratory inflammation and sometimes, neurologic complications. In cats it is known as FELINE PANLEUKOPENIA.|MSH|N|
C0012766|Disruption of the normal functioning of the sensory nerves in the skin.|NCI|N|
C0012811|A pouch or sac-like protrusion in the colonic wall.|NCI|N|
C0012813|An infection that develops in the diverticula of the intestinal tract. Signs and symptoms include abdominal pain, fever, and leukocytosis.|NCI|N|
C0012814|Inflammation of the colonic diverticula, generally with abscess formation and subsequent perforation.|MONDO|N|
C0012817|A pouch formed at a weakened area of wall in a hollow organ structure.|NCI|N|
C0012819|The presence of multiple diverticula of the colon.|HPO|N|
C0012833|A sensation of lightheadedness, unsteadiness, turning, spinning or rocking.|NCI|N|
C0012860|Drug-, radiation-induced, or spontaneous injuries to DNA that introduce deviations from its normal double-helical conformation. These changes include structural distortions that interfere with replication and transcription, as well as point mutations that disrupt base pairs and exert damaging effects on future generations through changes in DNA sequence. If the damage is minor, it can often be repaired (DNA repair); extensive damage can induce apoptosis.|NCI|N|
C0012922|Diseases caused by DNA VIRUSES.|MSH|N|
C0012979|Diseases of the domestic dog (Canis familiaris). This term does not include diseases of wild dogs, WOLVES; FOXES; and other Canidae for which the heading CARNIVORA is used.|MSH|N|
C0013069|Double outlet right ventricle (DORV) is a type of ventriculoarterial connection in which both great vessels arise entirely or predominantly from the right ventricle.|HPO|N|
C0013076|A disease of horses and donkeys caused by Trypanosoma equiperdum. The disease occurs in Africa, the Americas, and Asia.|MSH|N|
C0013080|Down syndrome, the most frequent form of mental retardation caused by a microscopically demonstrable chromosomal aberration, is characterized by well-defined and distinctive phenotypic features and natural history. It is caused by triplicate state (trisomy) of all or a critical portion of chromosome 21.|OMIM|N|
C0013081|A negative regulatory effect on physiological processes at the molecular, cellular, or systemic level. At the molecular level, the major regulatory sites include membrane receptors, genes (GENE EXPRESSION REGULATION), mRNAs (RNA, MESSENGER), and proteins.|MSH|N|
C0013100|Dracunculiasis (Guinea worm disease) is a neglected tropical disease (NTD) characterized by a painful burning skin lesion from which the <i>Dracunculus medinensis</i> parasite emerges approximately 1 year after infection resulting from consumption of unsafe drinking water containing parasite-infected copepods (<i>Cyclops spp.</i>, microcrustacea also called water fleas).|ORDO|N|
C0013132|Habitual flow of saliva out of the mouth.|HPO|N|
C0013144|Abnormal feeling of sleepiness or difficulty staying awake.|HPO|N|
C0013146|The use of a drug for a reason other than which it was intended or in a manner or in quantities other than directed.|NCI|N|
C0013159|Phenomena and pharmaceutics of compounds that inhibit the function of agonists (DRUG AGONISM) and inverse agonists (DRUG INVERSE AGONISM) for a specific receptor. On their own, antagonists produce no effect by themselves to a receptor, and are said to have neither intrinsic activity nor efficacy.|MSH|N|
C0013170|process whereby an individual''s response to a drug lessens with repeated use.|CSP|N|
C0013182|Hypersensitivity in form of an adverse immune reaction against drugs.|HPO|N|
C0013215|The action of a drug in promoting or enhancing the effectiveness of another drug.|MSH|N|
C0013220|A reduction in the sensitivity to a drug following its repeated administration, in which increased doses are required to produce the same magnitude of effect previously produced by a smaller dose. This increase in dose may be necessitated by changes in the metabolism of the drug, or a cellular, physiological or behavioral adaptation to the effects of the drug.|NCI|N|
C0013238|A syndrome characterized by dryness of the cornea and conjunctiva. It is usually caused by a deficiency in tear production. Symptoms include a feeling of burning eyes and a possible foreign body presence in the eye.|NCI|N|
C0013240|A condition sometimes occurring after tooth extraction, particularly after traumatic extraction, resulting in a dry appearance of the exposed bone in the socket, due to disintegration or loss of the blood clot. It is basically a focal osteomyelitis without suppuration and is accompanied by severe pain (alveolalgia) and foul odor. (Dorland, 28th ed)|MONDO|N|
C0013261|Duane syndrome is a strabismus condition clinically characterized by congenital non-progressive limited horizontal eye movement accompanied by globe retraction which results in narrowing of the palpebral fissure. The lateral movement anomaly results from failure of the abducens nucleus and nerve (cranial nerve VI) to fully innervate the lateral rectus muscle; globe retraction occurs as a result of abnormal innervation of the lateral rectus muscle by the oculomotor nerve (cranial nerve III). At birth, affected infants have restricted ability to move the affected eye(s) outward (abduction) and/or inward (adduction), though the limitations may not be recognized in early infancy. In addition, the globe retracts into the orbit with attempted adduction, accompanied by narrowing of the palpebral fissure. Many individuals with Duane syndrome have strabismus in primary gaze but can use a compensatory head turn to align the eyes, and thus can preserve binocular vision and avoid diplopia. Individuals with Duane syndrome who lack binocular vision are at risk for amblyopia. The majority of affected individuals with Duane syndrome have isolated Duane syndrome (i.e., they do not have other detected congenital anomalies). Other individuals with Duane syndrome fall into well-defined syndromic diagnoses. However, many individuals with Duane syndrome have non-ocular findings that do not fit a known syndrome; these individuals are included as part of the discussion of nonsyndromic Duane syndrome.|GeneReviews|N|
C0013264|The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). The mild end of the spectrum includes the phenotypes of asymptomatic increase in serum concentration of creatine phosphokinase (CK) and muscle cramps with myoglobinuria. The severe end of the spectrum includes progressive muscle diseases that are classified as Duchenne/Becker muscular dystrophy when skeletal muscle is primarily affected and as DMD-associated DCM when the heart is primarily affected. Duchenne muscular dystrophy (DMD) usually presents in early childhood with delayed motor milestones including delays in walking independently and standing up from a supine position. Proximal weakness causes a waddling gait and difficulty climbing stairs, running, jumping, and standing up from a squatting position. DMD is rapidly progressive, with affected children being wheelchair dependent by age 12 years. Cardiomyopathy occurs in almost all individuals with DMD after age 18 years. Few survive beyond the third decade, with respiratory complications and progressive cardiomyopathy being common causes of death. Becker muscular dystrophy (BMD) is characterized by later-onset skeletal muscle weakness. With improved diagnostic techniques, it has been recognized that the mild end of the spectrum includes men with onset of symptoms after age 30 years who remain ambulatory even into their 60s. Despite the milder skeletal muscle involvement, heart failure from DCM is a common cause of morbidity and the most common cause of death in BMD. Mean age of death is in the mid-40s. DMD-associated DCM is characterized by left ventricular dilation and congestive heart failure. Females heterozygous for a DMD pathogenic variant are at increased risk for DCM.|GeneReviews|N|
C0013274|In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences.|HPO|N|
C0013278|A blood group consisting mainly of the antigens Fy(a) and Fy(b), determined by allelic genes, the frequency of which varies profoundly in different human groups; amorphic genes are common.|MSH|N|
C0013288|A disorder of the gastrointestinal tract. It is typically caused by the rapid emptying of undigested food from the stomach to the small intestine following gastroesophageal surgery but may be seen secondary to diabetes or the use of certain medications. Clinical signs may be seen 30-60 minutes after eating (early dumping): cramping, nausea, vomiting and diarrhea or they may be seen 1-3 hours later as a result of hyperinsulinemic hypoglycemia (late dumping): sweating, dizziness, confusion and heart palpitations. Untreated, the clinical course progresses to malnutrition and weight loss.|NCI|N|
C0013289|Pathological conditions in the duodenum region of the small intestine (intestine, small).|MONDO|N|
C0013291|A benign or malignant neoplasm that affects the wall of the duodenum. Representative examples include adenoma, carcinoma, and lymphoma.|NCI|N|
C0013292|Blockage of the normal flow of stomach contents through the duodenum.|NCI|N|
C0013295|An erosion of the mucous membrane in a portion of the duodenum.|HPO|N|
C0013298|Inflammation of the lining of the upper small intestine (duodenum).|HPO|N|
C0013299|Retrograde flow of duodenal contents (bile acids; pancreatic juice) into the stomach.|MONDO|N|
C0013312|Dupuytren contracture is the most common heritable disorder of connective tissue. It is a disease of the soft tissues of the palm and fingers characterized by a progressive thickening and shortening of the fascial structures that normally provide support to the glabrous skin of the palm. Although it can also be a sporadic disorder, the inherited form is most frequently observed among people of Nordic descent. There is a male: female ratio of greater than 3:1 (Hu et al., 2005).
Dupuytren contracture has been associated with multiple fibroproliferative conditions, including Peyronie disease (171000), knuckle pads (149100), congenital generalized fibromatosis (228550), juvenile fibromatosis (228600), and frozen shoulder, suggesting a common underlying defect in wound repair (Hu et al., 2005).|OMIM|N|
C0013336|A severe degree of short stature, more than -4 SD from the mean corrected for age and sex.|HPO|N|
C0013338|A type of reduced stature with normal proportions related to dysfunction of the pituitary gland related to either an isolated defect in the secretion of growth hormone or to panhypopituitarism, i.e., a deficit of all the anterior pituitary hormones.|HPO|N|
C0013362|Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.|HPO|N|
C0013363|A functional abnormality of the autonomic nervous system.|HPO|N|
C0013364|Familial dysautonomia, which affects the development and survival of sensory, sympathetic, and parasympathetic neurons, is a debilitating disorder present from birth. Neuronal degeneration progresses throughout life. Affected individuals have gastrointestinal dysfunction, autonomic crises (i.e., hypertensive vomiting attacks), recurrent pneumonia, altered pain sensitivity, altered temperature perception, and blood pressure instability. Hypotonia contributes to delay in acquisition of motor milestones. Optic neuropathy results in progressive vision loss. Older individuals often have a broad-based and ataxic gait that deteriorates over time. Developmental delay / intellectual disability occur in about 21% of individuals. Life expectancy is decreased.|GeneReviews|N|
C0013369|Acute inflammation of the intestine associated with infectious diarrhea of various etiologies, generally acquired by eating contaminated food containing toxins, biological derived from bacteria or other microorganisms. Dysentery is characterized initially by watery feces then by bloody mucoid stools. It is often associated with abdominal pain; fever; and dehydration.|MONDO|N|
C0013370|Colitis resulting from amebic infection.|NCI|N|
C0013371|Shigellosis is a bacterial infection leading to dysentery and is caused by <i>Shigella</i>, which are small, ubiquitous Gram-negative bacteria belonging to the enterobacteria family. There are four species: <i>S. dysenteriae</i>, <i>S. flexneri</i>, <i>S. boydii</i> and <i>S. sonnei</i>, all of which cause bacillary dysentery and are strictly limited to human hosts.|ORDO|N|
C0013374|Selective deficiency of one or more, but not all, classes of immunoglobulins.|HPO|N|
C0013377|The presence of a dysgerminoma, i.e., an undifferentiated germ cell tumor of the ovary.|HPO|N|
C0013378|A distortion of the sense of taste, often characterized by the sensation of a metallic taste.|HPO|N|
C0013384|A movement disorder which consists of effects including diminished voluntary movements and the presence of involuntary movements.|HPO|N|
C0013386|Abnormal movements, including hyperkinesis; hypokinesia; tremor; and dystonia, associated with the use of certain medications or drugs. Muscles of the face, trunk, neck, and extremities are most commonly affected. Tardive dyskinesia refers to abnormal hyperkinetic movements of the muscles of the face, tongue, and neck associated with the use of neuroleptic agents (see antipsychotic agents). (Adams et al., Principles of Neurology, 6th ed, p1199)|MONDO|N|
C0013388|A receptive visual aphasia characterized by the loss of a previously possessed ability to comprehend the meaning or significance of handwritten words, despite intact vision. This condition may be associated with posterior cerebral artery infarction (INFARCTION, POSTERIOR CEREBRAL ARTERY) and other BRAIN DISEASES.|MSH|N|
C0013390|Pain during menstruation that interferes with daily activities.|HPO|N|
C0013393|A defect in ossification of bone.|NCI|N|
C0013395|A heterogeneous group of symptoms that are localized in the epigastric region. Typical dyspeptic symptoms include postprandial fullness, early satiation, epigastric pain and epigastric burning, but other upper gastrointestinal symptoms such as nausea, belching or abdominal bloating often occur.|HPO|N|
C0013403|An autosomal dominant disorder defined by the presence of multiple dysplastic nevi and a history of melanoma in two family members. Patients are at an increased risk for the development of melanoma.|NCI|N|
C0013404|Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale.|HPO|N|
C0013405|A sudden attack of dyspnea that occurs while the affected person is at rest.|HPO|N|
C0013415|Dysthymia is a chronic mood disorder characterized by persistent depressed mood present for at least two years, for most of the day and for more days than not. During the first two years of the disorder, there has never been a two week period during which the number and duration of symptoms were sufficient to meet the diagnostic requirements for a major depressive episode.|SNOMEDCT_US|N|
C0013418|Uterine contractions (less than 3 in 10 minutes or inadequate strength) that do not result in progressive cervical dilation.|NCI|N|
C0013421|An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk.|HPO|N|
C0013423|Sustained involuntary muscle contractions that produce twisting and repetitive movements of the body.|HPO|N|
C0013426|A non-neoplastic lesion that affects the vulva and is characterized by thinning or thickening of the skin and dryness.|NCI|N|
C0013428|Painful or difficult urination.|HPO|N|
C0013447|A non-neoplastic or neoplastic disorder that affects the ear. Representative examples include infections, hearing disorders, benign neoplasms, and carcinomas.|NCI|N|
C0013449|A tumor (abnormal growth of tissue) of the ear.|HPO|N|
C0013456|Pain in the ear can be a consequence of otologic disease (primary or otogenic otalgia), or can arise from pathologic processes and structures other than the ear (secondary or referred otalgia).|HPO|N|
C0013473|A broad group of psychological disorders with abnormal eating behaviors leading to physiological effects from overeating or insufficient food intake.|NCI|N|
C0013481|Ebstein anomaly is characterized by downward displacement of variable severity of the tricuspid valve into the right ventricle. The valve leaflets may be dysplastic, and a variable portion of the proximal part of the right ventricle is in continuity with the right atrium ('atrialized'), because of the abnormally positioned tricuspid valve. The severity of this defect includes a spectrum ranging from severe disturbance in fetal and neonatal life to virtually asymptomatic survival to adult life. Associated extracardiac anomalies in the setting of chromosomal or mendelian disorders occur in about 20% of patients with Ebstein anomaly. Nonsyndromic Ebstein anomaly can occur as a sporadic or a familial defect (summary by Digilio et al., 2011).|OMIM|N|
C0013491|A purpuric lesion that is larger than 1 cm in diameter.|HPO|N|
C0013502|A parasitic infection caused by tapeworm larvae of Echinococcus. It affects livestock and humans. It is characterized by the formation of hydatid cysts mainly in the liver, lungs, spleen, and kidneys. Rupture of the cysts may lead to shock.|NCI|N|
C0013504|Liver disease caused by infections with parasitic tapeworms of the genus ECHINOCOCCUS, such as Echinococcus granulosus or Echinococcus multilocularis. Ingested Echinococcus ova burrow into the intestinal mucosa. The larval migration to the liver via the PORTAL VEIN leads to watery vesicles (HYDATID CYST).|MSH|N|
C0013505|Helminth infection of the lung caused by Echinococcus granulosus or Echinococcus multilocularis.|MSH|N|
C0013514|Infection by flukes of the genus Echinostoma.|MONDO|N|
C0013528|Echolalia is the automatic imitative repetition of sounds, words, or phrases in the absence of explicit awareness. The repeated words or phrases are typically odd or used in a non-social manner. These can be words or phrases that the affected individual has heard or invented.|HPO|N|
C0013533|Infectious disease processes, including meningitis, diarrhea, and respiratory disorders, caused by echoviruses.|MONDO|N|
C0013537|An acute and life-threatening complication of pregnancy, which is characterized by the appearance of tonic-clonic seizures, usually in a patient who had developed pre-eclampsia. Eclampsia includes seizures and coma that happen during pregnancy but are not due to preexisting or organic brain disorders.|HPO|N|
C0013568|An ulcerative pyoderma usually caused by group A beta-hemolytic streptococcal infection at the site of minor trauma. (Dorland, 27th ed)|MONDO|N|
C0013570|An infectious dermatitis of sheep and goats, affecting primarily the muzzle and lips. It is caused by a poxvirus and may be transmitted to humans.|MONDO|N|
C0013575|Ectodermal dysplasia is a group of conditions in which there is abnormal development of the skin, hair, nails, teeth, or sweat glands.|HPO|N|
C0013578|Infestations by parasites which live on, or burrow into, the surface of their host's epidermis. Most ectoparasites are arthropods.|MONDO|N|
C0013580|Congenital malformation of the ventral wall with partial or total evisceration of the heart outside the thoracic cavity and through the defect in the ventral wall.|HPO|N|
C0013581|Dislocation or malposition of the crystalline lens of the eye. A partial displacement (or dislocation) of the lens is described as a subluxation of the lens, while a complete displacement is termed luxation of the lens. A complete displacement occurs if the lens is completely outside the patellar fossa of the lens, either in the anterior chamber, in the vitreous, or directly on the retina. If the lens is partially displaced but still contained within the lens space, then it is termed subluxation.|HPO|N|
C0013589|A congenital defect characterized by the absence or hypoplasia of one or more extremities.|NCI|N|
C0013591|A viral infection of mice, causing edema and necrosis followed by limb loss.|MSH|N|
C0013592|An outward turning (eversion) or rotation of the eyelid margin.|HPO|N|
C0013595|Eczema is a form of dermatitis that is characterized by scaly, pruritic, erythematous lesions located on flexural surfaces.|HPO|N|
C0013604|An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body.|HPO|N|
C0013605|An acute disease of young pigs that is usually associated with weaning. It is characterized clinically by paresis and subcutaneous edema.|MSH|N|
C0013608|Abnormal fluid retention by the body due to impaired cardiac function or heart failure. It is usually characterized by increase in venous and capillary pressure, and swollen legs when standing. It is different from the generalized edema caused by renal dysfunction (NEPHROTIC SYNDROME).|MSH|N|
C0013609|Swelling due to an excessive accumulation of fluid at a specific anatomic site.|NCI|N|
C0013658|An indication of the years of schooling completed in graded public, private, or parochial schools, and in colleges, universities, or professional schools.|NCI|N|
C0013687|A collection of fluid in a body cavity, which may be the result of a non-neoplastic disorder (e.g. heart failure) or a tumor (e.g. carcinoma of the lung).|NCI|N|
C0013720|Ehlers-Danlos syndrome is a group of disorders that affect connective tissues supporting the skin, bones, blood vessels, and many other organs and tissues. Defects in connective tissues cause the signs and symptoms of these conditions, which range from mildly loose joints to life-threatening complications.\n\nThe various forms of Ehlers-Danlos syndrome have been classified in several different ways. Originally, 11 forms of Ehlers-Danlos syndrome were named using Roman numerals to indicate the types (type I, type II, and so on). In 1997, researchers proposed a simpler classification (the Villefranche nomenclature) that reduced the number of types to six and gave them descriptive names based on their major features. In 2017, the classification was updated to include rare forms of Ehlers-Danlos syndrome that were identified more recently. The 2017 classification describes 13 types of Ehlers-Danlos syndrome.\n\nAn unusually large range of joint movement (hypermobility) occurs in most forms of Ehlers-Danlos syndrome, and it is a hallmark feature of the hypermobile type. Infants and children with hypermobility often have weak muscle tone (hypotonia), which can delay the development of motor skills such as sitting, standing, and walking. The loose joints are unstable and prone to dislocation and chronic pain. In the arthrochalasia type of Ehlers-Danlos syndrome, infants have hypermobility and dislocations of both hips at birth.\n\nMany people with the Ehlers-Danlos syndromes have soft, velvety skin that is highly stretchy (elastic) and fragile. Affected individuals tend to bruise easily, and some types of the condition also cause abnormal scarring. People with the classical form of Ehlers-Danlos syndrome experience wounds that split open with little bleeding and leave scars that widen over time to create characteristic "cigarette paper" scars. The dermatosparaxis type of the disorder is characterized by loose skin that sags and wrinkles, and extra (redundant) folds of skin may be present.\n\nOther types of Ehlers-Danlos syndrome have additional signs and symptoms. The cardiac-valvular type causes severe problems with the valves that control the movement of blood through the heart. People with the kyphoscoliotic type experience severe curvature of the spine that worsens over time and can interfere with breathing by restricting lung expansion. A type of Ehlers-Danlos syndrome called brittle cornea syndrome is characterized by thinness of the clear covering of the eye (the cornea) and other eye abnormalities. The spondylodysplastic type features short stature and skeletal abnormalities such as abnormally curved (bowed) limbs. Abnormalities of muscles, including hypotonia and permanently bent joints (contractures), are among the characteristic signs of the musculocontractural and myopathic forms of Ehlers-Danlos syndrome. The periodontal type causes abnormalities of the teeth and gums.\n\nBleeding problems are common in the vascular type of Ehlers-Danlos syndrome and are caused by unpredictable tearing (rupture) of blood vessels and organs. These complications can lead to easy bruising, internal bleeding, a hole in the wall of the intestine (intestinal perforation), or stroke. During pregnancy, women with vascular Ehlers-Danlos syndrome may experience rupture of the uterus. Additional forms of Ehlers-Danlos syndrome that involve rupture of the blood vessels include the kyphoscoliotic, classical, and classical-like types.|MedlinePlus Genetics|N|
C0013743|A rare respiratory disease associated with unoperated congenital heart disease and characterized by congenital heart malformations with reversed or bi-directional shunting through an intra-cardiac or intervascular (usually aorto-pulmonary) communication with the development of PAH.|ORDO|N|
C0013772|Emotional, nutritional, financial, or physical maltreatment, exploitation, or abandonment of the older person generally by family members or by institutional personnel.|MSH|N|
C0013846|The process by which ELECTRONS are transported from a reduced substrate to molecular OXYGEN. (From Bennington, Saunders Dictionary and Encyclopedia of Laboratory Medicine and Technology, 1984, p270)|MSH|N|
C0013882|Enlargement of an area of the body due to obstruction within the lymphatic system and the resulting accumulation of lymph.|NCI|N|
C0013884|Lymphatic filariasis (LF) is a severe form of filariasis (see this term), caused by the parasitic worms <i>Wuchereria bancrofti</i>, <i>Brugia malayi</i> and <i>Brugia timori</i>, and the most common cause of acquired lymphedema worldwide. LF is endemic to tropical and subtropical regions. The vast majority of infected patients are asymptomatic but it can also cause a variety of clinical manifestations, including limb lymphedema, genital anomalies (hydrocele, chylocele), elephantiasis in later stages of the disease (frequently in the lower extremities), and tropical pulmonary eosinophilia (nocturnal paroxysmal cough and wheezing, weight loss, low-grade fever, adenopathy, and pronounced blood eosinophilia). Renal involvement (hematuria, proteinuria, nephritic syndrome, glomerulonephritis), and mono-arthritis of the knee or ankle joint have also been reported.|ORDO|N|
C0013895|Excretory-related psychiatric disorders usually diagnosed in infancy or childhood.|MSH|N|
C0013902|Hereditary elliptocytosis (HE) is a rare clinically and genetically heterogeneous disorder of the red cell membrane characterized by manifestations ranging from mild to severe transfusion-dependent hemolytic anemia but with the majority of patients being asymptomatic.|ORDO|N|
C0013903|Ellis-van Creveld syndrome is an autosomal recessive skeletal dysplasia characterized by short limbs, short ribs, postaxial polydactyly, and dysplastic nails and teeth. Congenital cardiac defects, most commonly a defect of primary atrial septation producing a common atrium, occur in 60% of affected individuals (summary by Ruiz-Perez et al., 2000).
The clinical features of the Ellis-van Creveld syndrome appear to be identical regardless of whether the disorder is caused by mutation in the EVC gene (604831) or in the EVC2 gene (607261) (Ruiz-Perez et al., 2003, Galdzicka et al., 2002).|OMIM|N|
C0013911|An extreme loss of muscle and subcutaneous fat that is caused by malnutrition, and which results in a severely thin (emaciated) appearance.|NCI|N|
C0013922|The blockage of a blood vessel lumen by air or solid material such as blood clot or other tissues (e.g., adipose tissue, cancer cells) that have migrated from another anatomic site.|NCI|N|
C0013926|The presence of bubbles of air in the vascular system; occurrence is related to the entry of air into the venous circulation following trauma or surgery.|NCI|N|
C0013927|Acute hypotension or cardiac arrest, acute hypoxia or coagulopathy in the absence of any other potential explanation related to the presence of amniotic fluid or the fetal debris within the maternal vascular system during the antepartum or intrapartum period.|NCI|N|
C0013928|Blocking of a blood vessel by fat deposits in the circulation. It is often seen after fractures of large bones or after administration of CORTICOSTEROIDS.|MSH|N|
C0013930|A tumor embolism involves sudden blockage of an artery by a clot or by other material from tumor fragments transported by the blood stream.|NCI|N|
C0014008|Empty sella or arachnoidocele has been defined as the herniation of the subarachnoid space within the sella turcica, associated with elongated pituitary stalk and flattening of the pituitary gland.|HPO|N|
C0014009|An accumulation of pus in the pleural space.|NCI|N|
C0014012|Presence of pus in the GALLBLADDER.|MSH|N|
C0014013|Accumulation of pus in the pleural cavity.|HPO|N|
C0014014|An empyema resulting from infection by Mycobacterium tuberculosis.|NCI|N|
C0014034|A sudden eruption (rash) of the surface of a mucous membrane of the mouth or pharynx.|HPO|N|
C0014038|An inflammatory process affecting the brain parenchyma. Causes include viral infections and less frequently bacterial infections, toxins, and immune-mediated processes.|NCI|N|
C0014040|A rare brain inflammatory disease characterized by acute or subacute encephalitis with involvement of the midbrain and basal ganglia occurring in children as well as adults. Initial symptoms are pharyngitis and fever, followed by progressive lethargy, sleep disturbances, extrapyramidal symptoms (parkinsonism, chorea, dystonia), neuropsychiatric manifestations (obsessive-compulsive behavior, mutism, catatonia), and ocular features (oculogyric crises). Autoantibodies against human basal ganglia are often positive. Survivors may develop post-encephalitic syndromes, most prominently parkinsonism.|ORDO|N|
C0014053|A viral infection of the brain caused by serotypes of California encephalitis virus (ENCEPHALITIS VIRUS, CALIFORNIA) transmitted to humans by the mosquito AEDES triseriatus. The majority of cases are caused by the LA CROSSE VIRUS. This condition is endemic to the midwestern United States and primarily affects children between 5-10 years of age. Clinical manifestations include FEVER; VOMITING; HEADACHE; and abdominal pain followed by SEIZURES, altered mentation, and focal neurologic deficits. (From Joynt, Clinical Neurology, 1996, Ch26, p13)|MSH|N|
C0014055|A term that may be used to describe encephalitis characterized by sleepiness, which is likely due to a viral cause.|NCI|N|
C0014057|Japanese encephalitis is an arboviral disease (<i>i.e.</i> a disease due to a virus transmitted by an arthropod).|ORDO|N|
C0014059|A demyelinating disorder of the central nervous system.|ORDO|N|
C0014060|An acute arboviral infection caused by a virus of the <i>Flaviviridae</i> family transmitted by an infected mosquito, and characterized by the onset of flulike symptoms such as fever, malaise, headache, cough, and sore throat that can progress to meningitis or encephalitis with symptoms like nausea, vomiting, confusion, stiff neck, disorientation, irritability, tremors, and convulsions. Photophobia, cranial nerve palsies, and even coma may occur.|ORDO|N|
C0014061|Tick-borne encephalitis is caused by an arbovirus of the Flaviviridae family (tick-borne encephalitis virus, TBEV), transmitted principally by the bite of the <i>Ixodes ricinus</i> tick. The symptomology is biphasic, with the initial phase being associated with a flu-like illness and the second phase (occurring in less than 10% of patients) with symptoms of meningitis or, more rarely, meningoencephalitis.|ORDO|N|
C0014065|A congenital defect in the skull, whereby there is a protrusion of part of the cranial contents through a congenital defect in the cranium, usually covered with skin or mucous membrane. The term encephalocele refers to a subclass of these lesions in which brain tissue protrudes through the defect.|HPO|N|
C0014066|Nasal encephalocele is an extracranial herniation of intracranial contents (that maintain a connection to the subarachnoid space) into the fonticulus frontalis, presenting with nasal broadening and/or as a compressible, blue, pulsatile mass near the nasal bridge (that enlarges on crying or with jugular vein compression) or as an intranasal mass originating in the cribiform plate and that can cause nasal obstruction or respiratory distress. Hydrocephalus and increased intracranial pressure are also reported in some cases.|ORDO|N|
C0014067|A type of encephalocele (that is, a a protrusion of part of the cranial contents including brain tissue through a congenital opening in the cranium, typically covered with skin or mucous membrane) in the occipital region of the skull. Occipital encephalocele presents as a midline swelling over the occipital bone. It is usually covered with normal full-thickness scalp.|HPO|N|
C0014068|Encephalomalacia is the softening or loss of brain tissue after cerebral infarction, cerebral ischemia, infection, craniocerebral trauma, or other injury.|HPO|N|
C0014070|A disorder characterised by inflammation of both the brain and the spinal cord.|SNOMEDCT_US|N|
C0014073|A picornavirus infection producing symptoms similar to poliomyelitis in pigs.|MSH|N|
C0014074|A group of ALPHAVIRUS INFECTIONS which affect horses and man, transmitted via the bites of mosquitoes. Disorders in this category are endemic to regions of South America and North America. In humans, clinical manifestations vary with the type of infection, and range from a mild influenza-like syndrome to a fulminant encephalitis. (From Joynt, Clinical Neurology, 1996, Ch26, pp8-10)|MSH|N|
C0014077|A degenerative brain disorder presenting with acute neurological manifestations. It usually associated with an acute infection or vaccination. It is characterized by brain hemorrhage, vascular necrosis and demyelination. Signs and symptoms include fever, headache, vomiting, convulsions and loss of consciousness.|NCI|N|
C0014078|A condition caused by infection by the Venezuelan equine encephalitis virus, which is characterized by headache, fever, myalgia, nausea, and vomiting.|NCI|N|
C0014084|Enchondromas are common benign cartilage tumors of bone. They can occur as solitary lesions or as multiple lesions in enchondromatosis. When hemangiomata are associated, the condition is known as Maffucci syndrome (614569). Clinical problems caused by enchondromas include skeletal deformity and the potential for malignant change to osteosarcoma (Schwartz et al., 1987).
Classification of the Enchondromatoses
In their classification of the enchondromatoses, Spranger et al. (1978) called Ollier disease and Maffucci syndrome types I and II enchondromatosis, respectively; metachondromatosis (156250), type III; spondyloenchondrodysplasia (607944), type IV; enchondromatosis with irregular vertebral lesions, type V; and generalized enchondromatosis, type VI. Halal and Azouz (1991) added 3 tentative categories to the 6 in the classification of Spranger et al. (1978).
Pansuriya et al. (2010) suggested a new classification of enchondromatosis (multiple enchondromas).|OMIM|N|
C0014089|An elimination disorder characterized by fecal incontinence, whether involuntary or intentional, which is not due to a medical condition and which occurs in someone who is toilet trained.|NCI|N|
C0014100|Inflammation of the arterial intima.|NCI|N|
C0014116|A spectrum of septal defects involving the ATRIAL SEPTUM; VENTRICULAR SEPTUM; and the atrioventricular valves (TRICUSPID VALVE; BICUSPID VALVE). These defects are due to incomplete growth and fusion of the ENDOCARDIAL CUSHIONS which are important in the formation of two atrioventricular canals, site of future atrioventricular valves.|MSH|N|
C0014117|Diffuse thickening of the ventricular endocardium and by associated myocardial dysfunction|HPO|N|
C0014118|An inflammation of the endocardium, the inner layer of the heart, which usually involves the heart valves.|HPO|N|
C0014121|A bacterial infection of the endocardium, the inner layer of the heart, which usually involves the heart valves.|HPO|N|
C0014122|Subacute inflammation of the endocardium. Streptococcus viridans is the usual etiologic agent of subacute bacterial endocarditis. The distinction between ""acute"" and ""subacute"" endocarditis has traditionally been made based on the pathogenic organism and clinical presentation.|NCI|N|
C0014126|A polyp that arises from the endocervix. It is characterized by the presence of endocervical glands and a fibrovascular stroma.|NCI|N|
C0014127|Inflammation of the endocervix.|NCI|N|
C0014130|A non-neoplastic or neoplastic disorder that affects the endocrine system. Representative examples of non-neoplastic disorders include diabetes mellitus, hyperthyroidism, and adrenal gland insufficiency. Representative examples of neoplastic disorders include carcinoid tumor, neuroendocrine carcinoma, and pheochromocytoma.|NCI|N|
C0014132|A tumor (abnormal growth of tissue) of the endocrine system.|HPO|N|
C0014145|A rare germ cell tumor characterized by multiple patterns reflecting endodermal extraembryonal differentiation (secondary yolk sac and allantois) or endodermal somatic tissues (intestine, liver, and mesenchyme). The tumors most commonly occur in the second or third decade of life. They are typically located in the gonads, occasionally also in other regions. Patients present with a pelvic mass and/or abdominal pain (females) or an often painless, unilateral testicular mass (males). Elevated serum alpha fetoprotein is a common laboratory finding.|ORDO|N|
C0014170|A benign, borderline, or malignant neoplasm that affects the endometrium.|NCI|N|
C0014173|A proliferation of the endometrial cells resulting in glandular enlargement and budding. The proliferation may or may not be associated with atypia of the endometrial cells. When the hyperplastic changes are excessive, there is formation of complex epithelial structures (complex endometrial hyperplasia).|NCI|N|
C0014175|The growth of endometrial tissue outside the uterus.|HPO|N|
C0014177|Endometriosis that affects the fallopian tube. Symptoms include infertility, pelvic pain, painful menstruation, and painful intercourse.|NCI|N|
C0014179|Inflammation of the inner lining of the uterus (endometrium).|HPO|N|
C0014236|A rare ophthalmic disorder characterized by inflammation involving the vitreous and/or aqueous humors, usually due to bacterial or fungal infection. It may arise endogenously from hematogenous spread of the infectious agent, or exogenously after direct inoculation, and can take an acute or chronic course. Clinical signs and symptoms include progressive vitritis, hypopyon, reduced or blurred vision, red eye, pain, and lid swelling. The condition may be complicated by panophthalmitis, corneal infiltration and perforation, affection of orbital structures, and phthisis bulbi.|ORDO|N|
C0014238|Infection of the interior of the eye, especially the aqueous and/or vitreous humor, by a parasite.|NCI|N|
C0014274|The transfer of energy of a given form among different scales of motion. (From McGraw-Hill Dictionary of Scientific and Technical Terms, 6th ed). It includes the transfer of kinetic energy and the transfer of chemical energy. The transfer of chemical energy from one molecule to another depends on proximity of molecules so it is often used as in techniques to measure distance such as the use of FORSTER RESONANCE ENERGY TRANSFER.|MSH|N|
C0014306|Abnormal recession of the eyeball within the eye socket.|NCI|N|
C0014324|Infection with amoebae of the genus ENTAMOEBA. Infection with E. histolytica causes DYSENTERY, AMEBIC and LIVER ABSCESS, AMEBIC.|MSH|N|
C0014327|Feeding problem necessitating food and nutrient delivery via a tube.|HPO|N|
C0014335|Inflammation of the small intestine.|NCI|N|
C0014342|An acute, highly contagious virus disease of turkeys characterized by chilling, anorexia, decreased water intake, diarrhea, dehydration and weight loss. The infectious agent is a CORONAVIRUS.|MSH|N|
C0014347|Infections with bacteria of the family ENTEROBACTERIACEAE.|MSH|N|
C0014356|An inflammation of the colon and small intestine. However, most conditions are either categorized as Enteritis (inflammation of the small intestine) or Colitis (inflammation of the large intestine).|HPO|N|
C0014358|An acute inflammation of the INTESTINAL MUCOSA that is characterized by the presence of pseudomembranes or plaques in the SMALL INTESTINE (pseudomembranous enteritis) and the LARGE INTESTINE (pseudomembranous colitis). It is commonly associated with antibiotic therapy and CLOSTRIDIUM DIFFICILE colonization.|MSH|N|
C0014371|Disease caused by the liberation of exotoxins of CLOSTRIDIUM PERFRINGENS in the intestines of sheep, goats, cattle, foals, and piglets. Type B enterotoxemia in lambs is lamb dysentery; type C enterotoxemia in mature sheep produces ""struck"", and in calves, lambs and piglets it produces hemorrhagic enterotoxemia; type D enterotoxemia in sheep and goats is pulpy-kidney disease or overeating disease.|MSH|N|
C0014378|An disease caused by infection with Enterovirus.|MONDO|N|
C0014390|An abnormal inversion (turning inward) of the eyelid (usually the lower) towards the globe. Entropion is usually acquired as a result of involutional or cicatricial processes but may occasionally be congenital.|HPO|N|
C0014394|Lack of the ability to control the urinary bladder leading to involuntary urination at an age where control of the bladder should already be possible.|HPO|N|
C0014429|Conversion of an inactive form of an enzyme to one possessing metabolic activity. It includes 1, activation by ions (activators); 2, activation by cofactors (coenzymes); and 3, conversion of an enzyme precursor (proenzyme or zymogen) to an active enzyme.|MSH|N|
C0014439|The extent to which an enzyme retains its structural conformation or its activity when subjected to storage, isolation, and purification or various other physical or chemical manipulations, including proteolytic enzymes and heat.|MSH|N|
C0014457|Increased count of eosinophils in the blood.|HPO|N|
C0014461|A type of granuloma characterized morphologically by the predominance of Langerhans cells with characteristic grooved, folded, indented nuclei in the appropriate milieu that includes variable numbers of eosinophils and histiocytes including multinucleated forms, often appearing similar to osteoclasts or touton like giant cells, neutrophils and small lymphocytes. The concentration of the eosinophilic infiltrate varies from scattered mature cells to sheet-like masses of cells. Occasionally, areas of bone necrosis may interrupt the cellular infiltrate. The foamy cells may also be amassed in clumps, which are of no clinical significance because these clumps represent phagocytosis of lipid debris.|HPO|N|
C0014474|The presence of an ependymoma of the central nervous system.|HPO|N|
C0014481|An Ephemerovirus infection of cattle caused by bovine ephemeral fever virus (EPHEMERAL FEVER VIRUS, BOVINE). It is characterized by respiratory symptoms, increased oropharyngeal secretions and lacrimation, joint pains, tremor, and stiffness.|MSH|N|
C0014488|Inflammation of the epicondyles.|NCI|N|
C0014493|Keratoconjunctivitis resulting from infection by adenoviruses.|NCI|N|
C0014511|Nontender, round and firm, but slightly compressible, intradermal or subcutaneous cyst measuring 0.5-5 cm in diameter. Epidermal cysts are intradermal or subcutaneous tumors, grow slowly and occur on the face, neck, back and scrotum. They usually appear at or around puberty, and as a rule an affected individual has one solitary or a few cysts.|HPO|N|
C0014518|An extended form of toxic epidermal necrolysis with characteristics of destruction and detachment of the skin epithelium and mucous membranes involving more than 30% of the body surface area. Lyell syndrome can be triggered by a drug allergy and, exceptionally, by infections or bone marrow transplantation. In 25 to 30% of cases, the cause is unclear. Patients should be admitted to an intensive care or burns unit as soon as the diagnosis is suspected. Prognosis is poor (mortality rate: 20-25%).|SNOMEDCT_US|N|
C0014521|An acute generalized dermatitis of pigs which occurs from 5 to 35 days of age, characterized by sudden onset, with morbidity of 10 to 90% and mortality of 5 to 90%. The lesions are caused by Staphylococcus hyos but the bacterial agent is unable to penetrate the intact skin. Abrasions on the feet and legs or lacerations on the body frequently precede infection. In acute cases, a vesicular-type virus may be the predisposing factor. The causative organism is inhibited by most antibiotics. (Merck Veterinary Manual, 5th ed)|MSH|N|
C0014522|Epidermodysplasia verruciformis (EV) is a rare inherited genodermatosis characterized by chronic infection with human papillomavirus (HPV) leading to polymorphous cutaneous lesions and high risk of developing non melanoma skin cancer.|ORDO|N|
C0014527|An autosomal recessive inherited skin disorder caused by mutations in the genes encoding keratins 5 and 14, collagen VII or laminin 5. It is characterized by skin fragility and the formation of blisters. The blisters may become large and ulcerated, resulting in skin infections and loss of body fluids.|NCI|N|
C0014534|The presence of inflammation of the epididymis.|HPO|N|
C0014536|A primary or metastatic neoplasm that involves the space between the vertebral periosteum and dura mater that surrounds the spinal cord.|NCI|N|
C0014541|Inflammation of the epiglottis.|NCI|N|
C0014544|A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.|SNOMEDCT_US|N|
C0014547|A type of epilepsy with only focal onset epileptic seizures. Seizures can arise from a single location or multiple locations.|SNOMEDCT_US|N|
C0014548|A type of epilepsy with only generalized onset epileptic seizures.|SNOMEDCT_US|N|
C0014549|A generalized tonic-clonic seizure.|NCI|N|
C0014550|A clinically diverse group of epilepsy syndromes characterized either by myoclonic seizures or by myoclonus in association with other seizure types. Myoclonic epilepsy syndromes are divided into three subtypes based on etiology: familial, cryptogenic, and symptomatic.|MSH|N|
C0014553|Absence seizures present with a cessation of activity and impaired awareness associated with generalized spike and wave on EEG (electroencephalogram). An absence seizure is a generalized onset seizure and therefore, it originates at some point within, and rapidly engages, bilaterally distributed networks.|SNOMEDCT_US|N|
C0014556|A focal seizure disorder affecting the temporal lobe. It is the most common form of partial epilepsy and may be more often seen in patients who have a history of febrile seizures.|NCI|N|
C0014557|Recurrent seizures causally related to CRANIOCEREBRAL TRAUMA. Seizure onset may be immediate but is typically delayed for several days after the injury and may not occur for up to two years. The majority of seizures have a focal onset that correlates clinically with the site of brain injury. Cerebral cortex injuries caused by a penetrating foreign object (CRANIOCEREBRAL TRAUMA, PENETRATING) are more likely than closed head injuries (HEAD INJURIES, CLOSED) to be associated with epilepsy. Concussive convulsions are nonepileptic phenomena that occur immediately after head injury and are characterized by tonic and clonic movements. (From Rev Neurol 1998 Feb;26(150):256-261; Sports Med 1998 Feb;25(2):131-6)|MONDO|N|
C0014571|Abnormal separation of an epiphysis from the shaft of a bone.|NCI|N|
C0014574|Disorganization of the physeal chondrocytes with or without increased thickness of physis.|NCI|N|
C0014583|Inflammation of the episclera, a thin layer of tissue covering the white part (sclera) of the eye.|HPO|N|
C0014588|Epispadias is a urogenital malformation characterized by the failure of the urethral tube to tubularize on the dorsal aspect. Unlike in hypospadias, where the meatus is on the ventral aspect, children with epispadias have a wide-open urethral plate on the dorsum. It is commonly seen as a component in the spectrum of bladder exstrophy-epispadias-complex. Isolated epispadias constitutes less than 10 percent of the total cases of epispadias.|HPO|N|
C0014591|Epistaxis, or nosebleed, refers to a hemorrhage localized in the nose.|HPO|N|
C0014647|A reactive localized proliferation of mononuclear cells and osteoclast-type giant cells in a vascular stroma outside bone. It occurs in the gingiva or alveolar mucosa. (WHO 2017)|NCI|N|
C0014661|A horse disease caused by a retrovirus which is transmitted by biting flies. The acute phase symptoms include high fever, anemia, weakness, and swelling of the legs. The subacute phase symptoms include splenomegaly, anemia, and weight loss. The chronic phase symptoms include recurrent fevers and anemia.|NCI|N|
C0014670|Plantar declination of the foot.|MSH|N|
C0014724|To belch, the casting of upwind from the stomach.|NCI|N|
C0014733|Increased susceptibility to erysipelas, as manifested by a medical history of repeated episodes of erysipelas, which is a superficial infection of the skin, typically involving the lymphatic system.|HPO|N|
C0014736|Infections with bacteria of the genus erysipelothrix.|MONDO|N|
C0014740|An expanding erythematous (red) skin lesion, usually round or oval, by definition at least 5 cm in size (in largest diameter).|HPO|N|
C0014741|A type of panniculitis characterized histologically by the presence of granulomas, vasculitis, and necrosis. It is traditionally considered to be the tuberculous counterpart of nodular vasculitis, but is now known to occur without tuberculous precedent. It is seen most commonly in adolescent and menopausal women, is initiated or exacerbated by cold weather, and typically presents as one or more recurrent erythrocyanotic nodules or plaques on the calves. The nodules may progress to form indurations, ulcerations, and scars.|MSH|N|
C0014742|A hypersensitivity reaction characterized by the sudden appearance of symmetrical cutaneous and mucocutaneous macular or papular lesions which evolve into lesions with bright red borders (target lesions). The lesions usually appear in the hands, feet, extremities, and face. Symptoms include fever, malaise, sore throat, cough, vomiting, diarrhea, arthralgia, and myalgia. Causes include infections (most commonly herpes simplex virus), drugs (e.g., sulfonamides, anticonvulsants, and antibiotics), malignancies, and collagen vascular disorders.|NCI|N|
C0014743|An erythematous eruption commonly associated with drug reactions or infection and characterized by inflammatory nodules that are usually tender, multiple, and bilateral.|HPO|N|
C0014747|A skin condition that primarily affects the scalp and face and presents as scaly inflammation. Examples include itchy, dry skin and dandruff.|NCI|N|
C0014752|A chronic bacterial infection of major folds of the skin, caused by Corynebacterium minutissimum.|MONDO|N|
C0014761|A disorder of the fetus or newborn that occurs when fetal cells that are coated with IgG alloantibodies from the mother attack antigens inherited from the father. Severity can range from absence of symptoms to death.|NCI|N|
C0014800|Increased count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow.|HPO|N|
C0014804|Recurrent episodes of redness, burning pain, and warmth of the extremities following exposure to heat or exercise with symptoms predominantly involving the feet.|HPO|N|
C0014805|SCN9A neuropathic pain syndromes (SCN9A-NPS) comprise SCN9A erythromelalgia (EM), SCN9A paroxysmal extreme pain disorder (PEPD), and SCN9A small fiber neuropathy (SFN). SCN9A-EM is characterized by recurrent episodes of bilateral intense, burning pain, and redness, warmth, and occasionally swelling. While the feet are more commonly affected than the hands, in severely affected individuals the legs, arms, face, and/or ears may be involved. SCN9A-PEPD is characterized by neonatal or infantile onset of autonomic manifestations that can include skin flushing, harlequin (patchy or asymmetric) color change, tonic non-epileptic attacks (stiffening), and syncope with bradycardia. Later manifestations are episodes of excruciating deep burning rectal, ocular, or submandibular pain accompanied by flushing (erythematous skin changes). SCN9A-SFN is characterized by adult-onset neuropathic pain in a stocking and glove distribution, often with a burning quality; autonomic manifestations such as dry eyes, mouth, orthostatic dizziness, palpitations, bowel or bladder disturbances; and preservation of large nerve fiber functions (normal strength, tendon reflexes, and vibration sense).|GeneReviews|N|
C0014818|A clinical term that refers to the presence of a red flat and well defined lesion on the oral mucosa that is not caused by trauma, vascular, or inflammatory processes. It is a precancerous condition and is seen more commonly in middle aged or older males. It is associated with tobacco and alcohol consumption. Microscopic examination reveals severe epithelial dysplasia, carcinoma in situ, or invasive squamous cell carcinoma.|NCI|N|
C0014836|Increased susceptibility to infections with Escherichia coli, as manifested by recurrent episodes of infection with this agent.|HPO|N|
C0014848|A disorder of esophageal motility characterized by the inability of the lower esophageal sphincter to relax during swallowing and by inadequate or lacking peristalsis in the lower half of the body of the esophagus.|HPO|N|
C0014850|A developmental defect resulting in complete obliteration of the lumen of the esophagus such that the esophagus ends in a blind pouch rather than connecting to the stomach.|HPO|N|
C0014851|Any fluid-filled closed cavity or sac (CYSTS) that is lined by an EPITHELIUM and found in the ESOPHAGUS region.|MSH|N|
C0014852|A non-neoplastic or neoplastic disorder that affects the esophagus. Representative examples of non-neoplastic disorders include esophagitis and esophageal ulcer. Representative examples of neoplastic disorders include carcinomas, lymphomas, and melanomas.|NCI|N|
C0014854|The presence of a diverticulum of the esophagus.|HPO|N|
C0014856|An abnormal communication between the esophagus and another organ or anatomic site.|NCI|N|
C0014858|Disorders affecting the motor function of the upper esophageal sphincter; lower esophageal sphincter; the esophagus body, or a combination of these parts. The failure of the sphincters to maintain a tonic pressure may result in gastric reflux of food and acid into the esophagus (gastroesophageal reflux). Other disorders include hypermotility (spastic disorders) and markedly increased amplitude in contraction (nutcracker esophagus).|MONDO|N|
C0014859|A tumor (abnormal growth of tissue) of the esophagus.|HPO|N|
C0014860|The presence of a hole or other type of opening in the esophageal wall through which the contents of the esophagus can pass into the mediastinum. The most common cause of esophageal perforation is injury during a medical procedure such as esophagoscopy or placement of a naso-gastric tube; and pathologic process such as neoplasm or gastric reflux with ulceration. Less common causes include injuries from penetrating or blunt trauma or injury to the esophagus during an operation on another organ, mechanical problem such as violent retching or vomiting; ingestion of a foreign body or caustic agents. The condition often results in infection of the mediastinum and mediastinitis.|NCI|N|
C0014863|Involuntary contractions of the esophagus that are irregular, uncoordinated, and painful.|HPO|N|
C0014866|An abnormal narrowing of the lumen of the esophagus.|HPO|N|
C0014867|Extreme dilation of the submucusoal veins in the lower portion of the esophagus.|HPO|N|
C0014868|Inflammation of the esophagus.|HPO|N|
C0014869|Inflammation of the esophagus that is caused by the reflux of gastric juice with contents of the stomach and duodenum.|MONDO|N|
C0014877|A form of strabismus with one or both eyes turned inward ('crossed') to a relatively severe degree, usually defined as 10 diopters or more.|HPO|N|
C0015029|An acute or chronic inflammatory process affecting the mucous membrane of the ethmoid sinus.|NCI|N|
C0015190|Abnormal thyroid function tests, low triiodothyronine with elevated reverse triiodothyronine, in the setting of non-thyroidal illness.|NCI|N|
C0015207|A localized protrusion of a structure into an adjacent structure or cavity.|NCI|N|
C0015230|A widespread rash.|HPO|N|
C0015231|An infection that is due to human herpesvirus (HHV) types 6 or 7; it is characterized by 3-5 days of high fever followed by the acute onset of a rosy, pink, non-pruritic, macular rash that is predominantly on the neck and trunk.|MONDO|N|
C0015263|Sudden contraction of the smooth muscles of the bronchial wall that occurs during or following exercise.|NCI|N|
C0015269|A disorder characterized by recurrent sexual urges, fantasies, or behaviors involving the exposure of one''s genitals to an unsuspecting stranger.|NCI|N|
C0015300|An eye that is protruding anterior to the plane of the face to a greater extent than is typical.|HPO|N|
C0015306|Hereditary multiple osteochondromas (HMO), previously called hereditary multiple exostoses (HME), is characterized by growths of multiple osteochondromas, benign cartilage-capped bone tumors that grow outward from the metaphyses of long bones. Osteochondromas can be associated with a reduction in skeletal growth, bony deformity, restricted joint motion, shortened stature, premature osteoarthrosis, and compression of peripheral nerves. The median age of diagnosis is three years; nearly all affected individuals are diagnosed by age 12 years. The risk for malignant degeneration to osteochondrosarcoma increases with age, although the lifetime risk for malignant degeneration is low (~2%-5%).|GeneReviews|N|
C0015310|A form of strabismus with one or both eyes deviated outward.|HPO|N|
C0015326|The maximum volume of air a subject can exhale from the lungs after a tidal exhalation.|NCI|N|
C0015331|An ICD encounter due to exposure to noise.|NCI|N|
C0015338|Eversion of a hollow organ and exposure, inside out, and protruded through the abdominal wall.|HPO|N|
C0015371|A movement disorder caused by defects in the basal ganglia. The clinical manifestations include changes in the muscle tone, dyskinesia, and akinesia. Causes include vascular disorders, degenerative disorders, and antipsychotic drugs.|NCI|N|
C0015376|The leakage of body fluid or cells from the vascular system to the surrounding tissues. This process occurs either by force or as a result of a pathologic reaction (e.g., inflammation). This process may sometimes allow cancer cells to migrate from capillaries to adjacent tissues, initiating micro-metastases.|NCI|N|
C0015393|A disorder of the eye that is present at birth. Representative examples include congenital cataract, congenital glaucoma, and astigmatism.|NCI|N|
C0015397|A non-neoplastic or neoplastic disorder that affects the eye. Representative examples include conjunctivitis, glaucoma, cataract, conjunctival squamous cell carcinoma, uveal melanoma, and retinoblastoma.|NCI|N|
C0015398|Transmission of gene defects or chromosomal aberrations/abnormalities which are expressed in extreme variation in the structure or function of the eye. These may be evident at birth, but may be manifested later with progression of the disorder.|MSH|N|
C0015402|Bleeding from vessels of the various tissues of the eye.|HPO|N|
C0015403|An infectious process affecting any part of the eye. Causes include viruses and bacteria. Symptoms include itching and discomfort in the eye, watery eyes, eye pain and discharge, and blurring vision. Representative examples include pink eye, blepharitis, and trachoma.|NCI|N|
C0015404|Infections in the inner or external eye caused by microorganisms belonging to several families of bacteria. Some of the more common genera found are Haemophilus, Neisseria, Staphylococcus, Streptococcus, and Chlamydia.|MSH|N|
C0015405|Infection by a variety of fungi, usually through four possible mechanisms: superficial infection producing conjunctivitis, keratitis, or lacrimal obstruction; extension of infection from neighboring structures - skin, paranasal sinuses, nasopharynx; direct introduction during surgery or accidental penetrating trauma; or via the blood or lymphatic routes in patients with underlying mycoses.|MONDO|N|
C0015406|Mild to severe infections of the eye and its adjacent structures (adnexa) by adult or larval protozoan or metazoan parasites.|MONDO|N|
C0015407|Infections of the eye caused by minute intracellular agents. These infections may lead to severe inflammation in various parts of the eye - conjunctiva, iris, eyelids, etc. Several viruses have been identified as the causative agents. Among these are Herpesvirus, Adenovirus, Poxvirus, and Myxovirus.|MONDO|N|
C0015411|Ocular disorders attendant upon non-ocular disease or injury.|MSH|N|
C0015414|A tumor (abnormal growth of tissue) of the eye.|HPO|N|
C0015423|A non-neoplastic or neoplastic disorder that affects the eyelid.|NCI|N|
C0015424|A benign or malignant neoplasm that affects the eyelid. Representative examples include hemangioma, nevus, and carcinoma.|NCI|N|
C0015456|Facial Dermatosis, also known as facial dermatoses, is related tolipogranulomatosis. An important gene associated with Facial Dermatosis isCCNE1(cyclin E1). The drugsbetamethasoneandbetamethasone acetatehave been mentioned in the context of this disorder.|MONDO|N|
C0015457|Observable changes of expression in the face in response to emotional stimuli.|MSH|N|
C0015458|Unilateral atrophy of facial tissues, including muscles, bones and skin.|HPO|N|
C0015461|A tumor (abnormal growth of tissue) of the face.|HPO|N|
C0015464|A non-neoplastic or neoplastic disorder affecting the facial nerve (seventh cranial nerve).|NCI|N|
C0015467|Neuralgic syndromes which feature chronic or recurrent facial pain as the primary manifestation of disease. Disorders of the trigeminal and facial nerves are frequently associated with these conditions.|MONDO|N|
C0015468|Painful sensation in the face.|NCI|N|
C0015469|Complete loss of ability to move facial muscles innervated by the facial nerve (i.e., the seventh cranial nerve).|HPO|N|
C0015480|Disorder in which the subject intentionally produces, feigns, falsifies or aggravates physical or psychological symptoms or injury.|SNOMEDCT_US|N|
C0015499|Factor V deficiency is a rare autosomal recessive bleeding disorder with variable phenotypic expression (summary by van Wijk et al., 2001).|OMIM|N|
C0015503|Factor VII deficiency is an autosomal recessive bleeding disorder showing variable severity (summary by Millar et al., 2000).
Perry (2002) provided a comprehensive review of factor VII deficiency with a description of F7 polymorphisms, gene structure, and a summary of 120 mutations.|OMIM|N|
C0015519|Factor X deficiency is a rare autosomal recessive bleeding disorder showing variable phenotypic severity. Affected individuals can manifest prolonged nasal and mucosal hemorrhage, menorrhagia, hematuria, and occasionally hemarthrosis. The disorder can be caused either by reduced levels of the factor X protein or by synthesis of a dysfunctional factor X protein (summary by Millar et al., 2000).|OMIM|N|
C0015523|Factor XI deficiency is an autosomal bleeding disorder characterized by reduced levels of factor XI in plasma (less than 15 IU/dL). Bleeding occurs mainly after trauma or surgery. On the basis of the concordance or discordance of F11 antigen and activity, the disorder is classified into the more frequent cross-reactive negative (CRM-) and the rarer CRM positive (CRM+) (summary by Duga and Salomon, 2009).|OMIM|N|
C0015526|Decreased activity of coagulation factor XII. Factor XII (fXII) is part of the intrinsic coagulation pathway and binds to exposed collagen at site of vessel wall injury, activated by high-MW kininogen and kallikrein, thereby initiating the coagulation cascade.|HPO|N|
C0015530|Congenital factor XIII deficiency is an inherited bleeding disorder due to reduced levels and activity of factor XIII (FXIII) and characterized by hemorrhagic diathesis frequently associated with spontaneous abortions and defective wound healing. Factor XIII deficiency is one of the most rare coagulation factor deficiencies.|ORDO|N|
C0015556|A non-neoplastic or neoplastic disorder that affects the fallopian tube. Representative examples of non-neoplastic disorders include salpingitis and endometriosis. Representative examples of neoplastic disorders include papilloma, adenofibroma, carcinoma, leiomyosarcoma, and carcinosarcoma.|NCI|N|
C0015558|A benign or malignant neoplasm affecting the fallopian tube. Representative examples of benign neoplasms include papilloma, adenofibroma, and leiomyoma. Representative examples of malignant neoplasms include carcinoma, carcinosarcoma, and adenosarcoma.|NCI|N|
C0015624|Fanconi renotubular syndrome is an autosomal dominant renal disorder resulting from decreased solute and water reabsorption in the proximal tubule of the kidney. Patients have polydipsia and polyuria with phosphaturia, glycosuria, and aminoaciduria. They may develop hypophosphatemic rickets or osteomalacia, renal acidosis, and a tendency toward dehydration. Common laboratory abnormalities include glucosuria with a normal serum glucose, hyperaminoaciduria, hypophosphatemia, progressive renal insufficiency, renal sodium and potassium wasting, acidosis, uricosuria, and low molecular weight proteinuria. The disorder is progressive, and some patients will eventually develop renal insufficiency (summary by Lichter-Konecki et al., 2001).
Genetic Heterogeneity of Fanconi Renotubular Syndrome
See also FRTS2 (613388), caused by mutation in the SLC34A1 gene (182309) on chromosome 5q35; FRTS3 (615605), caused by mutation in the EHHADH gene (607037) on chromosome 3q27; FRTS4 (616026), which is associated with maturity-onset diabetes of the young (MODY), caused by mutation in the HNF4A gene (600281) on chromosome 20q13; and FRTS5 (618913), caused by mutation in the NDUFAF6 gene (612392) on chromosome 8q22.|OMIM|N|
C0015625|Fanconi anemia (FA) is characterized by physical abnormalities, bone marrow failure, and increased risk for malignancy. Physical abnormalities, present in approximately 75% of affected individuals, include one or more of the following: short stature, abnormal skin pigmentation, skeletal malformations of the upper and/or lower limbs, microcephaly, and ophthalmic and genitourinary tract anomalies. Progressive bone marrow failure with pancytopenia typically presents in the first decade, often initially with thrombocytopenia or leukopenia. The incidence of acute myeloid leukemia is 13% by age 50 years. Solid tumors – particularly of the head and neck, skin, and genitourinary tract – are more common in individuals with FA.|GeneReviews|N|
C0015634|Farmer's lung disease is the main form of occupational hypersensitivity pneumonitis (see this term), caused by chronic inhalation of microorganisms, often thermophilic actinomycetes and less commonly <i>saccharopolyspora rectivirgula</i>, living in mouldy hay, straw, or grain. It is characterized by variable degrees of dyspnea, cough, tiredness, headaches and occasional fever/night sweats, with acute, sub-acute or chronic clinical course|ORDO|N|
C0015644|Fasciculations are observed as small, local, involuntary muscle contractions (twitching) visible under the skin. Fasciculations result from increased irritability of an axon (which in turn is often a manifestation of disease of a motor neuron). This leads to sporadic discharges of all the muscle fibers controlled by the axon in isolation from other motor units.|HPO|N|
C0015645|Inflammation of fascia, the tissue under the skin and over the muscle.|HPO|N|
C0015652|A parasitic infection that is caused by liver flukes, usually Fasciola hepatica, of sheep, goats, and cattle. Humans become infected by eating uncooked, infested aquatic vegetation (classically watercress). Adult flukes inhabit the bile ducts, gallbladder, and occasionally ectopic sites. Symptoms arise secondary to inflammatory response or obstruction.|NCI|N|
C0015655|Infection of cattle and other herbivores with the giant liver fluke Fascioloides magna. It is characterized by extensive destruction of the liver parenchyma.|MONDO|N|
C0015656|A small bowel infection that is caused by Fasciolopsis buski, which is endemic in the Far East and Southeast Asia, and which is transmitted via the consumption of raw or undercooked aquatic plants. The spectrum of manifestations range from asymptomatic to intestinal symptoms from local invasion or allergic response.|NCI|N|
C0015663|Abstaining from food.|NCI|N|
C0015668|Destruction of adipose tissue caused by the activity of lipase on damaged fat cells.|NCI|N|
C0015672|A subjective feeling of tiredness characterized by a lack of energy and motivation.|HPO|N|
C0015674|A syndrome of unknown etiology. Chronic fatigue syndrome (CFS) is a clinical diagnosis characterized by an unexplained persistent or relapsing chronic fatigue that is of at least six months'' duration, is not the result of ongoing exertion, is not substantially alleviated by rest, and results in substantial reduction of previous levels of occupational, educational, social, or personal activities. Common concurrent symptoms of at least six months duration include impairment of memory or concentration, diffuse pain, sore throat, tender lymph nodes, headaches of a new type, pattern, or severity, and nonrestorative sleep. The etiology of CFS may be viral or immunologic. Neurasthenia and fibromyalgia may represent related disorders. Also known as myalgic encephalomyelitis.|NCI|N|
C0015676|Brain fog is a type of transient cognitive dysfunction that comprises a constellation of symptoms that impair intellectual functioning to a level that interferes with daily activities, commonly including forgetfulness, mental slowness, difficulty thinking or focusing, a perceived slowing of mental processing speed, inability to find the right words, a sensation that the mind went blank or is "cloudy". Brain fog tends to recur and may be triggered by factors such as physical fatigue, lack of sleep, and prolonged standing or may appear to occur spontaneously.|HPO|N|
C0015695|Lipid infiltration of the hepatic parenchymal cells resulting in a yellow-colored liver. The abnormal lipid accumulation is usually in the form of TRIGLYCERIDES, either as a single large droplet or multiple small droplets. Fatty liver is caused by an imbalance in the metabolism of FATTY ACIDS.|MSH|N|
C0015696|Lipid infiltration of the hepatic parenchymal cells that is due to alcohol abuse. The fatty changes in the alcoholic fatty liver may be reversible, depending on the amounts of triglycerides accumulated.|MONDO|N|
C0015702|A condition associated with glucose-6-phosphate dehydrogenase deficiency, which is characterized by hemolysis.|NCI|N|
C0015708|Fazio-Londe disease is a progressive bulbar palsy with onset in childhood that presents with hypotonia and respiratory insufficiency (summary by Bosch et al., 2011).|OMIM|N|
C0015732|Involuntary fecal soiling in adults and children who have usually already been toilet trained.|HPO|N|
C0015734|Formation of a firm impassable mass of stool in the RECTUM or distal COLON.|MSH|N|
C0015765|A highly contagious DNA virus infection of the cat family, characterized by fever, enteritis and bone marrow changes. It is also called feline ataxia, feline agranulocytosis, feline infectious enteritis, cat fever, cat plague, and show fever. It is caused by FELINE PANLEUKOPENIA VIRUS or the closely related MINK ENTERITIS VIRUS or CANINE PARVOVIRUS.|MSH|N|
C0015773|Felty syndrome (FS), also known as ''super rheumatoid'' disease, is a severe form of rheumatoid arthritis (RA), characterized by a triad of RA, splenomegaly and neutropenia, resulting in susceptibility to bacterial infections.|ORDO|N|
C0015786|A disorder characterized by a recurrent or persistent inability to attain or maintain until completion of sexual activity an adequate physical response of sexual excitement, consisting of vasocongestion in the pelvis, vaginal lubrication and expansion, and swelling of the external genitalia.|NCI|N|
C0015799|The development of secondary female sex characteristics in males.|NCI|N|
C0015802|A break or crush injury of the thigh bone (femur).|HPO|N|
C0015807|A neoplasm (disease) that involves the femur.|MONDO|N|
C0015814|Aseptic or avascular necrosis of the femoral head. The major types are idiopathic (primary), as a complication of fractures or dislocations, and LEGG-CALVE-PERTHES DISEASE.|MSH|N|
C0015852|The exothermic catabolic processing of a substance by bacteria, yeasts, or other microorganisms.|NCI|N|
C0015923|Fetal alcohol syndrome (FAS) is a rare malformation syndrome caused by excessive maternal consumption of alcohol during pregnancy. It is characterized by prenatal and/or postnatal growth deficiency (weight and/or height <10th percentile), a unique cluster of minor facial anomalies (short palpebral fissures, flat and smooth philtrum, and thin upper lip) and severe central nervous system (CNS) abnormalities including microcephaly, and cognitive and behavioral impairment (intellectual disability, deficit in general cognition, learning and language, executive function, visual-spatial processing, memory, and attention).|ORDO|N|
C0015927|Death of a fetus after 10 weeks gestation.|NCI|N|
C0015929|A non-neoplastic or neoplastic disorder which occurs in the fetus.|NCI|N|
C0015930|An intrauterine state characterized by suboptimal values in the fetal heart rate, oxygenation of fetal blood, or other parameters indicative of compromise of the fetus. Signs of fetal distress include repetitive variable decelerations, fetal tachycardia or bradycardia, late decelerations, or low biophysical profile.|HPO|N|
C0015934|An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.|HPO|N|
C0015938|A fetus exceeding 4500 grams.|NCI|N|
C0015944|Premature rupture of membranes (PROM) is a condition which occurs in pregnancy when the amniotic sac ruptures more than an hour before the onset of labor.|HPO|N|
C0015951|The disintegration and assimilation of the dead FETUS in the UTERUS at any stage after the completion of organogenesis which, in humans, is after the 9th week of GESTATION. It does not include embryo resorption (see EMBRYO LOSS).|MSH|N|
C0015957|A disorder characterized by recurrent sexual urges, fantasies, or behaviors involving the use of nonliving objects such as women''s wearing apparel (the ""fetish"").|NCI|N|
C0015959|Loss of fetal blood into the maternal circulation.|NCI|N|
C0015967|Body temperature elevated above the normal range.|HPO|N|
C0015970|A febrile process with an etiology that is not apparent or yet determined.|NCI|N|
C0015974|Episodic fever that recurs at regular intervals.|HPO|N|
C0016034|Fibrosis associated with cyst formation in the breast parenchyma.|NCI|N|
C0016037|Fibrodysplasia ossificans progressiva (FOP) is characterized by congenital bilateral hallux valgus malformations and early-onset heterotopic ossification, which may be spontaneous or precipitated by trauma including intramuscular vaccinations. Painful, recurrent soft-tissue swellings (flare-ups) may precede localized heterotopic ossification. Heterotopic ossification can occur at any location, but typically affects regions in close proximity to the axial skeleton in the early/mild stages, before progressing to the appendicular skeleton. This can lead to restriction of movement as a result of ossification impacting joint mobility. Problems with swallowing and speaking can occur with ossification affecting the jaw, head, and neck, and restriction of the airway and breathing may lead to thoracic insufficiency syndrome.|GeneReviews|N|
C0016045|Benign tumors that are composed of fibrous or connective tissue. They can grow in all organs, arising from mesenchyme tissue. The term "fibroblastic" or "fibromatous" is used to describe tumors of the fibrous connective tissue. When the term fibroma is used without modifier, it is usually considered benign, with the term fibrosarcoma reserved for malignant tumors.|HPO|N|
C0016047|Fibroma that occurs in a rabbit.|NCI|N|
C0016048|A poorly circumscribed neoplasm arising from the soft tissues. It is characterized by the presence of spindle-shaped fibroblasts and an infiltrative growth pattern.|NCI|N|
C0016049|The presence of fibrosis of the gingiva.|HPO|N|
C0016052|Fibromuscular dysplasia (FMDA) is a nonatherosclerotic, noninflammatory arterial disease that most commonly involves the renal and carotid arteries. The prevalence of symptomatic renal artery FMDA is about 4 in 1,000 and the prevalence of cervicocranial FMDA is about half of that. Histologic classification includes 3 main subtypes, intimal, medial, and perimedial, which may be associated in a single patient. Angiographic classification includes the multifocal type, with multiple stenoses and the 'string of beads' appearance that is related to medial FMDA, and tubular and focal types, which are not clearly related to specific histologic lesions (summary by Plouin et al., 2007)|OMIM|N|
C0016053|A chronic disorder of unknown etiology characterized by pain, stiffness, and tenderness in the muscles of neck, shoulders, back, hips, arms, and legs. Other signs and symptoms include headaches, fatigue, sleep disturbances, and painful menstruation.|NCI|N|
C0016057|A fibroblastic sarcoma is a malignant tumor derived from fibrous connective tissue and characterized by immature proliferating fibroblasts or undifferentiated anaplastic spindle cells.|HPO|N|
C0016059|The formation of fibrous tissue.|NCI|N|
C0016064|Fibrous dysplasia of the bones were lesions are localized in only one bone.|HPO|N|
C0016065|Fibrous dysplasia of the bones were lesions are localized in many bones throughout of the body. Polyostotic fibrous dysplasia is a cardinal feature of McCune-Albright syndrome.|HPO|N|
C0016085|A parasitic disease caused by tissue-invasive, vector-borne nematodes which can be found anywhere in the human body and that are transmitted to humans through the bite of an infected mosquito or fly or by consumption of unsafe drinking water and which, depending on the subtype can manifest with lymphedema, dermatitis, subcutaneous edema and eye involvement. The disorder is a major public health problem in many tropical and subtropical countries. Six subtypes have been described in the literature: lymphatic filariasis, onchocerciasis, loiasis, mansonelliasis, dirofilariasis and dracunculiasis caused by <i>Wuchereria bancrofti</i> and filarioidea of the genus <i>Brugia</i>; <i>Onchocerca volvulus</i>; <i>Loa loa</i>; <i>Mansonella</i>; <i>Dirofilaria</i>; and <i>Dracunculus medinensis</i>, respectively. Tropical eosinophilia is considered a frequent manifestation.|ORDO|N|
C0016089|An infection that is caused by the organism Mansonella ozzardi.|NCI|N|
C0016142|A disorder characterized by a fascination with fire and recurrent episodes of fire setting during which the individual experiences a rising subjective sense of tension before the fire setting and a sense of gratification or relief when setting the fire. There is no ulterior motive (such as monetary gain or the expression of political ideology) to the fire setting.|NCI|N|
C0016154|Diseases of freshwater, marine, hatchery or aquarium fish. This term includes diseases of both teleosts (true fish) and elasmobranchs (sharks, rays and skates).|MSH|N|
C0016167|A small tear in the thin, moist tissue (mucosa) that lines the anus. It appears as a crack or slit in the mucous membrane of the anus.|HPO|N|
C0016169|Abnormal epithelial-lined communication between two anatomical structures.|NCI|N|
C0016171|An abnormal connection between the intestine and another epithelial-lined structure, but that does not include the rectum or anus.|NCI|N|
C0016196|A complication of multiple RIB FRACTURES; RIB and STERNUM fractures, or thoracic surgery. A portion of the THORACIC WALL becomes isolated from the RIB CAGE and exhibits paradoxical respiration.|MSH|N|
C0016199|An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the flank.|HPO|N|
C0016202|A foot where the longitudinal arch of the foot is in contact with the ground or floor when the individual is standing; or, in a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing; or, the height of the arch is reduced.|HPO|N|
C0016204|Passage of excessive amounts of gas and the feeling of abdominal fullness and bloating.|HPO|N|
C0016242|Deposits of various size, shape, consistency, refractive index, and motility within the eye's vitreous humor, which is normally transparent.|HPO|N|
C0016382|Recurrent episodes of redness of the skin together with a sensation of warmth or burning of the affected areas of skin.|HPO|N|
C0016395|Focal dermal hypoplasia is a multisystem disorder characterized primarily by involvement of the skin, skeletal system, eyes, and face. Skin manifestations present at birth include atrophic and hypoplastic areas of skin; cutis aplasia; fat nodules in the dermis manifesting as soft, yellow-pink cutaneous nodules; and pigmentary changes. Verrucoid papillomas of the skin and mucous membranes may appear later. The nails can be ridged, dysplastic, or hypoplastic; hair can be sparse or absent. Limb malformations include oligo-/syndactyly and split hand/foot. Developmental abnormalities of the eye can include anophthalmia/microphthalmia, iris and chorioretinal coloboma, and lacrimal duct abnormalities. Craniofacial findings can include facial asymmetry, notched alae nasi, cleft lip and palate, and pointed chin. Occasional findings include dental anomalies, abdominal wall defects, diaphragmatic hernia, and renal anomalies. Psychomotor development is usually normal; some individuals have cognitive impairment.|GeneReviews|N|
C0016397|An infection at a specific location that may spread to another region of the body.|MSH|N|
C0016398|Secondary or systemic infections due to dissemination throughout the body of microorganisms whose primary focus of infection lies in the periodontal tissues.|MSH|N|
C0016399|A type of focal-onset seizure characterized by a motor sign as its initial semiological manifestation.|HPO|N|
C0016412|A reduced circulating concentration of folic acid, which is also known as vitamin B9.|HPO|N|
C0016428|A variant of dentigerous cyst found in the soft tissues overlying an erupting tooth. (WHO 2017)|NCI|N|
C0016429|A benign ovarian cyst that develops from a persistent, unruptured Graafian follicle, which grows larger than three centimeters.|NCI|N|
C0016436|Inflammatory cells within the wall and ostia of the hair follicle, creating a follicular-based pustule.|HPO|N|
C0016470|An allergic reaction triggered by exposure to allergens found in food; exposure can occur through the skin, respiratory tract or digestive tract.|NCI|N|
C0016506|Alterations or deviations from normal shape or size which result in a disfigurement of the foot.|MSH|N|
C0016508|Alterations or deviations from normal shape or size which result in a disfigurement of the foot occurring at or before birth.|MSH|N|
C0016509|Skin diseases of the foot, general or unspecified.|MSH|N|
C0016510|Anatomical and functional disorders affecting the foot.|MSH|N|
C0016512|An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the foot.|HPO|N|
C0016513|A disease of the horny parts and of the adjacent soft structures of the feet of cattle, swine, and sheep. It is usually caused by Corynebacterium pyogenes or Bacteroides nodosus (see DICHELOBACTER NODOSUS). It is also known as interdigital necrobacillosis. (From Black''s Veterinary Dictionary, 18th ed)|MSH|N|
C0016514|A highly infectious disease caused by FOOT AND MOUTH DISEASE VIRUS that affects mammals of the ARTIODACTYLA order (CATTLE; SHEEP; GOATS; and PIGS) and is characterized by high fever followed by the appearance of blisters inside the mouth and on the feet.|MSH|N|
C0016522|Failure of the foramen ovale to seal postnatally, leaving a potential conduit between the left and right cardiac atria.|HPO|N|
C0016528|The rate of airflow measured during a FORCED VITAL CAPACITY determination.|MSH|N|
C0016545|An inflammatory lesion in the muscle comprised of epithelioid histiocytes and chronic inflammation that is caused by the presence of extraneous material .|NCI|N|
C0016549|A granulomatous inflammatory reaction evoked by the presence of an exogenous material in the tissues, a characteristic feature of which is the formation of foreign body giant cells.|NCI|N|
C0016579|Subjective cutaneous sensations of insects in the absence of stimulation.|MSH|N|
C0016627|A rare, infectious disease characterized by variable severity and outcome, ranging from mild upper respiratory tract infection with fever and cough, to influenza-like illness with rapid progression to severe pneumonia, sepsis with shock, acute respiratory distress syndrome and even death. Additional manifestations may include conjunctivitis, nausea, abdominal pain, diarrhea, vomiting, multiple organ dysfunction, and encephalopathy.|ORDO|N|
C0016629|A poxvirus infection of poultry and other birds characterized by the formation of wart-like nodules on the skin and diphtheritic necrotic masses (cankers) in the upper digestive and respiratory tracts.|MSH|N|
C0016632|A chronic inflammatory skin disorder characterized by pruritic papular eruptions in areas with apocrine glands. It usually affects the axillae bilaterally. There is rupture of the apocrine ducts resulting in inflammation and formation of the papular skin lesions.|NCI|N|
C0016644|A partial or complete breakage of the carpal bone.|HPO|N|
C0016655|The repeated occurrence of bone fractures (implying an abnormally increased tendency for fracture).|HPO|N|
C0016663|A pathologic fracture occurs when a bone breaks in an area that is weakened secondarily to another disease process such as tumor, infection, and certain inherited bone disorders. A pathologic fracture can occur without a degree of trauma required to cause fracture in healthy bone.|HPO|N|
C0016665|A fracture in which union fails to occur, the ends of the bone becoming rounded and eburnated, and a false joint occurs. (Stedman, 25th ed)|MSH|N|
C0016667|FMR1 disorders include fragile X syndrome (FXS), fragile X-associated tremor/ataxia syndrome (FXTAS), and fragile X-associated primary ovarian insufficiency (FXPOI). Fragile X syndrome occurs in individuals with an FMR1 full mutation or other loss-of-function variant and is nearly always characterized in affected males by developmental delay and intellectual disability along with a variety of behavioral issues. Autism spectrum disorder is present in 50%-70% of individuals with FXS. Affected males may have characteristic craniofacial features (which become more obvious with age) and medical problems including hypotonia, gastroesophageal reflux, strabismus, seizures, sleep disorders, joint laxity, pes planus, scoliosis, and recurrent otitis media. Adults may have mitral valve prolapse or aortic root dilatation. The physical and behavioral features seen in males with FXS have been reported in females heterozygous for the FMR1 full mutation, but with lower frequency and milder involvement. FXTAS occurs in individuals who have an FMR1 premutation and is characterized by late-onset, progressive cerebellar ataxia and intention tremor followed by cognitive impairment. Psychiatric disorders are common. Age of onset is typically between 60 and 65 years and is more common among males who are hemizygous for the premutation (40%) than among females who are heterozygous for the premutation (16%-20%). FXPOI, defined as hypergonadotropic hypogonadism before age 40 years, has been observed in 20% of women who carry a premutation allele compared to 1% in the general population.|GeneReviews|N|
C0016689|The presence of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin.|HPO|N|
C0016697|A condition occurring in the female offspring of dizygotic twins (TWIN, DIZYGOTIC) in a mixed-sex pregnancy, usually in CATTLE. Freemartinism can occur in other mammals. When placental fusion between the male and the female FETUSES permits the exchange of fetal cells and fetal hormones, TESTICULAR HORMONES from the male fetus can androgenize the female fetus producing a sterile XX/XY chimeric ""female""(CHIMERISM).|MSH|N|
C0016719|Friedreich ataxia (FRDA) is characterized by slowly progressive ataxia with onset usually before age 25 years (mean age at onset: 10-15 yrs). FRDA is typically associated with dysarthria, muscle weakness, spasticity particularly in the lower limbs, scoliosis, bladder dysfunction, absent lower-limb reflexes, and loss of position and vibration sense. Approximately two thirds of individuals with FRDA have cardiomyopathy, up to 30% have diabetes mellitus, and approximately 25% have an "atypical" presentation with later onset or retained tendon reflexes.|GeneReviews|N|
C0016724|A rare acquired endocrine disorder more commonly affecting males. It is caused by lesions in the hypothalamus. Clinical signs include obesity, short stature, pubertal delay, hypogonadism, visual impairment, polydipsia and polyuria.|NCI|N|
C0016735|An acute or chronic inflammatory process affecting the mucous membrane of the frontal sinus.|NCI|N|
C0016738|A disorder characterized by recurrent sexual urges, fantasies, or behaviors involving touching the genitals of or rubbing the genitals against a nonconsenting person.|NCI|N|
C0016751|Following dietary exposure to fructose, sucrose, or sorbitol, untreated hereditary fructose intolerance (HFI) is characterized by metabolic disturbances (hypoglycemia, lactic acidemia, hypophosphatemia, hyperuricemia, hypermagnesemia, hyperalaninemia) and clinical findings (nausea, vomiting, and abdominal distress; chronic growth restriction / failure to thrive). While untreated HFI typically first manifested when fructose- and sucrose-containing foods were introduced in the course of weaning young infants from breast milk, it is now presenting earlier, due to the addition of fructose-containing nutrients in infant formulas. If the infant ingests large quantities of fructose, the infant may acutely develop lethargy, seizures, and/or progressive coma. Untreated HFI may result in renal and hepatic failure. If identified and treated before permanent organ injury occurs, individuals with HFI can experience a normal quality of life and life expectancy.|GeneReviews|N|
C0016752|Inherited abnormalities of fructose metabolism, which include three known autosomal recessive types: hepatic fructokinase deficiency (essential fructosuria), hereditary fructose intolerance, and hereditary fructose-1,6-diphosphatase deficiency. Essential fructosuria is a benign asymptomatic metabolic disorder caused by deficiency in fructokinase, leading to decreased conversion of fructose to fructose-1-phosphate and alimentary hyperfructosemia, but with no clinical dysfunction; may produce a false-positive diabetes test.|MSH|N|
C0016756|Fructose-1,6-bisphosphatase (FBP1) deficiency is characterized by episodic acute crises of lactic acidosis and ketotic hypoglycemia, manifesting as hyperventilation, apneic spells, seizures, and/or coma. Acute crises are most common in early childhood; nearly half of affected children have hypoglycemia in the neonatal period (especially the first 4 days) resulting from deficient glycogen stores. Factors known to trigger episodes include fever, fasting, decreased oral intake, vomiting, infections, and ingestion of large amounts of fructose. In untreated individuals, symptoms worsen progressively as continued catabolism leads to multiorgan failure (especially liver, brain, and later heart). Morbidity and mortality are high. Sepsis, blindness, and Reye syndrome-like presentation have been reported. In between acute episodes, children are asymptomatic. While the majority of affected children have normal growth and psychomotor development, a few have intellectual disability, presumably due to early and prolonged hypoglycemia.|GeneReviews|N|
C0016781|A disorder that is the most frequent form of posterior corneal dystrophy and is characterized by excrescences on a thickened Descemet membrane (corneal guttae), generalized corneal edema, with gradually decreased visual acuity.|ORDO|N|
C0016782|Fuchs heterochromic iridocyclitis (FHI) is an ocular disease of unknown etiology occurring in a very small percentage (0.5-6.2%) of uvietis cases, characterized by diffuse iris heterochromia or atrophy, keratic precipitates in the absence of synechiae, and in some cases evolving to glaucoma and vitreous opacities.|ORDO|N|
C0016788|Fucosidosis is an autosomal recessive lysosomal storage disease caused by defective alpha-L-fucosidase with accumulation of fucose in the tissues. Clinical features include angiokeratoma, progressive psychomotor retardation, neurologic signs, coarse facial features, and dysostosis multiplex.
Fucosidosis has been classified into 2 major types. Type 1 is characterized by rapid psychomotor regression and severe neurologic deterioration beginning at about 6 months of age, elevated sweat sodium chloride, and death within the first decade of life. Type 2 is characterized by milder psychomotor retardation and neurologic signs, the development of angiokeratoma corporis diffusum, normal sweat salinity, and longer survival (Kousseff et al., 1976).|OMIM|N|
C0016808|A disorder caused by a dysfunction of polymorphonuclear neutrophils (PMNs).|NCI|N|
C0016811|Involuntary urine release that cannot be attributed to an anatomic or physiologic etiology.|NCI|N|
C0016815|The volume of air remaining in the LUNGS at the end of a normal, quiet expiration. It is the sum of the RESIDUAL VOLUME and the EXPIRATORY RESERVE VOLUME. Common abbreviation is FRC.|MSH|N|
C0016842|A developmental anomaly in which the lower sternum is posteriorly dislocated and concavely deformed, resulting in a funnel-shaped thorax.|MSH|N|
C0016867|A skin condition that is characterized by recurring furuncles, lesions primarily caused by staphylococcus aureus infection of the hair follicles and surrounding skin. Furunculosis occurs more frequently in persons with immune systems disorders than in the general population.|NCI|N|
C0016873|The union of two separately developing tooth germs typically leading to one less tooth than normal in the affected dental arch.|HPO|N|
C0016879|Infection with anaerobic gram-negative bacteria of the genus Fusobacterium. It results in abscess formation and tissue damage.|NCI|N|
C0016927|The sudden, coordinated, involuntary contraction of pharyngeal muscles in an attempt to prevent any matter from passing into the posterior pharynx; it is stimulated by touching the posterior palate, tongue, or pharynx, or by psychic stimuli.|NCI|N|
C0016928|A pattern or manner of running, walking, or moving on foot.|NCI|N|
C0016952|The term "galactosemia" refers to disorders of galactose metabolism that include classic galactosemia, clinical variant galactosemia, and biochemical variant galactosemia (not covered in this chapter). This GeneReview focuses on: Classic galactosemia, which can result in life-threatening complications including feeding problems, failure to thrive, hepatocellular damage, bleeding, and E coli sepsis in untreated infants. If a lactose-restricted diet is provided during the first ten days of life, the neonatal signs usually quickly resolve and the complications of liver failure, sepsis, and neonatal death are prevented; however, despite adequate treatment from an early age, children with classic galactosemia remain at increased risk for developmental delays, speech problems (termed childhood apraxia of speech and dysarthria), and abnormalities of motor function. Almost all females with classic galactosemia manifest hypergonadatropic hypogonadism or premature ovarian insufficiency (POI). Clinical variant galactosemia, which can result in life-threatening complications including feeding problems, failure to thrive, hepatocellular damage including cirrhosis, and bleeding in untreated infants. This is exemplified by the disease that occurs in African Americans and native Africans in South Africa. Persons with clinical variant galactosemia may be missed with newborn screening as the hypergalactosemia is not as marked as in classic galactosemia and breath testing is normal. If a lactose-restricted diet is provided during the first ten days of life, the severe acute neonatal complications are usually prevented. African Americans with clinical variant galactosemia and adequate early treatment do not appear to be at risk for long-term complications, including POI.|GeneReviews|N|
C0016977|A non-neoplastic or neoplastic disorder that affects the gallbladder. Representative examples of non-neoplastic disorders include acute and chronic cholecystitis, often associated with the presence of gallstones. Representative examples of neoplastic disorders include adenoma, carcinoma, lymphoma, and sarcoma.|NCI|N|
C0016978|The presence of a neoplasm of the gallbladder.|HPO|N|
C0017075|A benign neoplasm that usually arises from the sympathetic trunk in the mediastinum, representing a tumor of the sympathetic nerve fibers arising from neural crest cells.|HPO|N|
C0017083|A group of autosomal recessive lysosomal storage disorders marked by the accumulation of gangliosides. They are caused by impaired enzymes or defective cofactors required for normal ganglioside degradation in the lysosomes. Gangliosidoses are classified by the specific ganglioside accumulated in the defective degradation pathway.|MONDO|N|
C0017086|A serious and potentially life-threatening condition that arises when a considerable mass of body tissue dies (necrosis).|HPO|N|
C0017097|Gardner syndrome is a severe form of familial adenomatous polyposis characterized by multiple adenomas in the colon and rectum associated with prominent extracolonic features including osteomas and multiple skin and soft tissue tumors.|ORDO|N|
C0017105|A severe condition resulting from bacteria invading healthy muscle from adjacent traumatized muscle or soft tissue. The infection originates in a wound contaminated with bacteria of the genus clostridium. C. perfringens accounts for the majority of cases (over eighty percent), while C. noyvi, C. septicum, and C. histolyticum cause most of the other cases.|MONDO|N|
C0017128|An abnormal communication between the stomach and another organ or anatomic site.|NCI|N|
C0017145|Extreme dilation of the submucusoal veins in the stomach.|HPO|N|
C0017150|A gastrin-producing neuroendocrine tumor. It is usually located in the pancreas but it is also found at other anatomic sites, including the stomach and small intestine.|NCI|N|
C0017152|The presence of inflammation of the gastric mucous membrane.|HPO|N|
C0017154|Atrophic gastritis (AG) is a histopathological entity that is characterized by chronic inflammation of the gastric mucosa with loss of gastric glandular cells and replacement by intestinal-type epithelium, pyloric-type glands, and fibrous tissue.|HPO|N|
C0017155|A type of gastritis characterized by excessive proliferation of the gastric mucosa and diffuse thickening of the gastric mucosal folds.|HPO|N|
C0017160|An inflammatory disorder that affects the upper and lower gastrointestinal tract. Most commonly, this is attributed to viruses; however bacteria, parasites or adverse reactions can also be the culprit. Symptoms include acute diarrhea and vomiting.|NCI|N|
C0017162|A condition of chronic gastroenteritis in adult pigs and fatal gastroenteritis in piglets caused by a CORONAVIRUS.|MSH|N|
C0017168|Gastroesophageal reflux (GER) is characterized by the retrograde movement of stomach contents into the esophagus. In its most severe form, GER results in extensive tissue damage caused by acid reflux. In adolescents and adults, and even infrequently in children, chronic GER is associated with the risk of developing Barrett metaplasia (614266), a premalignant lesion of the esophageal mucosa (Hu et al., 2000). In turn, Barrett metaplasia is correlated with the development of adenocarcinoma of the esophagus (see 614266), estimated as the fifth most prevalent neoplasia in the Western world (Lagergren et al., 1999).|OMIM|N|
C0017178|A non-neoplastic or neoplastic disorder that affects the gastrointestinal tract, anus, liver, biliary system, and pancreas.|NCI|N|
C0017181|Hemorrhage affecting the gastrointestinal tract.|HPO|N|
C0017183|A dysfunction in gastrointestinal function that is due to a psychological process.|NCI|N|
C0017185|A tumor (abnormal growth of tissue) of the gastrointestinal tract.|HPO|N|
C0017205|Gaucher disease (GD) encompasses a continuum of clinical findings from a perinatal lethal disorder to an asymptomatic type. The identification of three major clinical types (1, 2, and 3) and two other subtypes (perinatal-lethal and cardiovascular) is useful in determining prognosis and management. GD type 1 is characterized by the presence of clinical or radiographic evidence of bone disease (osteopenia, focal lytic or sclerotic lesions, and osteonecrosis), hepatosplenomegaly, anemia and thrombocytopenia, lung disease, and the absence of primary central nervous system disease. GD types 2 and 3 are characterized by the presence of primary neurologic disease; in the past, they were distinguished by age of onset and rate of disease progression, but these distinctions are not absolute. Disease with onset before age two years, limited psychomotor development, and a rapidly progressive course with death by age two to four years is classified as GD type 2. Individuals with GD type 3 may have onset before age two years, but often have a more slowly progressive course, with survival into the third or fourth decade. The perinatal-lethal form is associated with ichthyosiform or collodion skin abnormalities or with nonimmune hydrops fetalis. The cardiovascular form is characterized by calcification of the aortic and mitral valves, mild splenomegaly, corneal opacities, and supranuclear ophthalmoplegia. Cardiopulmonary complications have been described with all the clinical subtypes, although varying in frequency and severity.|GeneReviews|N|
C0017250|A disorder characterized by a strong and persistent cross-gender identification (such as stating a desire to be the other sex or frequently passing as the other sex) coupled with persistent discomfort with his or her sex (manifested in adults, for example, as a preoccupation with altering primary and secondary sex characteristics through hormonal manipulation or surgery).|NCI|N|
C0017327|Atherosclerosis that is not localized.|NCI|N|
C0017377|An abnormality of leukocytes, the cause of which is present from birth.|NCI|N|
C0017407|Diseases of the facial nerve or nuclei. Pontine disorders may affect the facial nuclei or nerve fascicle. The nerve may be involved intracranially, along its course through the petrous portion of the temporal bone, or along its extracranial course. Clinical manifestations include facial muscle weakness, loss of taste from the anterior tongue, hyperacusis, and decreased lacrimation.|MONDO|N|
C0017409|A rare infectious disease characterized by herpes zoster oticus associated with peripheral facial nerve palsy, often also with other cranial nerve lesions. Patients present with a painful erythematous vesicular rash in and around one ear and facial paralysis on the same side. Other frequent manifestations include hearing loss, tinnitus, vertigo, nausea, vomiting, and nystagmus.|ORDO|N|
C0017411|Pathological processes involving the female reproductive tract (GENITALIA, FEMALE).|MSH|N|
C0017412|Pathological processes involving the male reproductive tract (GENITALIA, MALE).|MSH|N|
C0017416|A neoplasm that affects the female reproductive system.|HPO|N|
C0017417|A neoplasm that affects the male reproductive system.|HPO|N|
C0017455|Infection due to the fungus Geotrichum.|MONDO|N|
C0017494|Gerstmann syndrome is a very rare neurological disorder characterized by the specific association of acalculia, finger agnosia, left-right disorientation, and agraphia, which is supposed to be secondary to a focal subcortical white matter damage in the parietal lobe.|ORDO|N|
C0017495|Genetic prion disease generally manifests with cognitive difficulties, ataxia, and myoclonus (abrupt jerking movements of muscle groups and/or entire limbs). The order of appearance and/or predominance of these features and other associated neurologic and psychiatric findings vary. The three major phenotypes of genetic prion disease are genetic Creutzfeldt-Jakob disease (gCJD), fatal familial insomnia (FFI), and Gerstmann-Sträussler-Scheinker (GSS) syndrome. Although these phenotypes display overlapping clinical and pathologic features, recognition of these phenotypes can be useful when providing affected individuals and their families with information about the expected clinical course. The age at onset typically ranges from 50 to 60 years. The disease course ranges from a few months in gCJD and FFI to a few (up to 4, and in rare cases up to 10) years in GSS syndrome.|GeneReviews|N|
C0017525|A benign, intermediate, or malignant neoplasm characterized by the presence of neoplastic giant cells.|NCI|N|
C0017531|A benign lymphoproliferative disorder that may present as a localized or multicentric form. The clinical manifestations are heterogeneous, ranging from asymptomatic discrete lymphadenopathy to recurrent episodes of diffuse lymphadenopathy with severe systemic symptoms.|ORDO|N|
C0017536|An infection of the small intestine caused by the flagellated protozoan giardia lamblia. It is spread via contaminated food and water and by direct person-to-person contact.|MONDO|N|
C0017547|A rare endocrine disease characterized by excessively tall stature and rapid growth velocity due to growth hormone excess from a pituitary adenoma/hyperplasia occurring before closure of the epiphyseal growth plates. Additional features may include pubertal delay, visual defects, headache, excessive appetite, hyperhidrosis, menstrual irregularity, prognathism, coarse facial features and large hands/feet.|ORDO|N|
C0017551|The hereditary hyperbilirubinemias include (1) those resulting in predominantly unconjugated hyperbilirubinemia: Gilbert or Arias syndrome, Crigler-Najjar syndrome type I (218800), and Crigler-Najjar syndrome type II (606785); and (2) those resulting in predominantly conjugated hyperbilirubinemia: Dubin-Johnson syndrome (237500), Rotor syndrome (237450), and several forms of intrahepatic cholestasis (147480, 211600, 214950, 243300) (Wolkoff et al., 1983). Detailed studies show that patients with Gilbert syndrome have reduced activity of bilirubin glucuronosyltransferase (Bosma et al., 1995, Koiwai et al., 1995).
Genetic Heterogeneity of Hyperbilirubinemia
See also Crigler-Najjar syndrome type I (HBLRCN1; 218800), Crigler-Najjar syndrome type II (HBLRCN2; 606785), and transient familial neonatal hyperbilirubinemia (HBLRTFN; 237900), all caused by mutation in the UGT1A1 gene (191740) on chromosome 2q37; Dubin-Johnson syndrome (DJS, HBLRDJ; 237500), caused by mutation in the ABCC2 gene (601107) on chromosome 10q24; and Rotor syndrome (HBLRR; 237450), caused by digenic mutation in the SLCO1B1 (604843) and SLCOB3 (605495) genes, both on chromosome 12p.|OMIM|N|
C0017563|A non-neoplastic or neoplastic disorder that affects the gums.|NCI|N|
C0017565|Hemorrhage affecting the gingiva.|HPO|N|
C0017566|Non-inflammatory enlargement of the gingivae produced by factors other than local irritation. It is characteristically due to an increase in the number of cells. (From Jablonski''s Dictionary of Dentistry, 1992, p400)|MSH|N|
C0017567|Abnormal enlargement or overgrowth of the gingivae brought about by enlargement of existing cells.|MONDO|N|
C0017570|A benign or malignant neoplasm that affects the upper or lower gingiva.|NCI|N|
C0017572|The loss of gum tissue. The result is that gum tissue is recessed and its position on the tooth is lowered, exposing the roots of the teeth.|HPO|N|
C0017574|Inflammation of the gingiva.|HPO|N|
C0017575|A bacterial infectious process affecting the gums. It is characterized by the development of necrotic, ulcerated, and painful lesions with creation of pseudomembranes extending along the gingival margins.|NCI|N|
C0017589|A condition resulting from infection by Burkholderia mallei, which mainly affects horses.|NCI|N|
C0017601|Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure.|HPO|N|
C0017605|A type of glaucomatous optic neuropathy in an eye that has evidence of angle closure (i.e. significant iridotrabecular contact).|HPO|N|
C0017606|An angle-closure glaucoma characterized by closure of the anterior chamber angle by an intrinsic defect such that aqueous outflow is blocked and the intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. Primary angle-closure glaucoma has symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. Primary angle closure glaucoma can be caused by anatomically narrow angle, defects in the trabecular meshwork, and iris abnormalities. Primary angle-closure glaucoma has a strong genetic component.|MONDO|N|
C0017609|Neovascular glaucoma is the most common type of secondary glaucoma, usually caused by diabetic retinopathy, central retinal vein occlusion and carotid artery obstruction but sometimes by trauma, uvietis or ocular tumors, and characterized by severe eye pain, synechial angle glaucoma, high intraocular pressure and leading to loss of vision.|ORDO|N|
C0017612|A type of glaucoma defined by an open, normal appearing anterior chamber angle and raised intraocular pressure,|HPO|N|
C0017614|At least 1 of these in 1 eye: optic nerve or nerve fibre layer suggestive of glaucoma; abnormal visual field consistent with glaucoma; an elevated IOP > 22 mm Hg.|SNOMEDCT_US|N|
C0017636|Glioblastomas are malignant astrocytic tumors (grade IV according to the WHO classification).|ORDO|N|
C0017638|The presence of a glioma, which is a neoplasm of the central nervous system originating from a glial cell (astrocytes or oligodendrocytes).|HPO|N|
C0017639|Gliosis is the focal proliferation of glial cells in the central nervous system.|HPO|N|
C0017650|Persistent or intermittent non-painful sensation of a lump or foreign body in the throat occurring between meals in the absence of dysphagia, odynophagia, evidence of gastroesophageal acid reflux, or histopathogically based esophageal motility disorders.|NCI|N|
C0017653|A rare soft tissue tumor characterized by a nodular lesion composed of cells closely resembling the modified smooth muscle cells of the normal glomus body. The tumors most often arise in the skin or soft tissues of the distal extremities, in particular the subungual region, but have been reported in almost any location. They occur as typical glomus tumors, glomangiomatosis (multiple nodules of solid glomus tumor investing the vascular walls), symplastic (showing striking nuclear atypia without mitotic activity or necrosis) or malignant glomus tumors, and glomus tumors of uncertain malignant potential.|ORDO|N|
C0017658|Inflammation of the renal glomeruli.|HPO|N|
C0017661|End-stage renal disease (ESRD) is a major public health problem, affecting 1 in 1,000 individuals and with an annual death rate of 20% despite dialysis treatment. IgA nephropathy (IgAN) is the most common form of glomerulonephritis, a principal cause of ESRD worldwide, affecting up to 1.3% of the population. Kidneys of patients with IgA nephropathy show deposits of IgA-containing immune complexes with proliferation of the glomerular mesangium. Typical clinical features include onset before age 40 with hematuria and proteinuria, and episodes of gross hematuria following mucosal infections are common; 30% of patients develop progressive renal failure. Although not generally considered a hereditary disease, striking ethnic variation in prevalence (Julian et al., 1985; D'Amico, 1987) and familial clustering (Scolari et al., 1999), along with subclinical renal abnormalities among relatives of cases, suggest a genetic component (Gharavi et al., 2000).
Genetic Heterogeneity of IgA Nephropathy
A locus for familial IgA nephropathy, called IGAN1, on chromosome 6q22-q23, was described by Gharavi et al. (2000). Another locus, IGAN2 (613944), was identified by Paterson et al. (2007) on chromosome 2q36. IGAN3 (616818) is caused by mutation in the SPRY2 gene (602466) on chromosome 13q31.
Polymorphisms in the ACE (106180) and AGT (106150) genes have been associated with progression to chronic renal failure in patients with IgA nephropathy.|OMIM|N|
C0017662|A type of glomerulonephritis characterized by diffuse mesangial cell proliferation and the thickening of capillary walls due to subendothelial extension of the mesangium. The term membranoproliferative glomerulonephritis is often employed to denote a general pattern of glomerular injury seen in a variety of disease processes that share a common pathogenetic mechanism, rather than to describe a single disease entity|HPO|N|
C0017665|A type of glomerulonephropathy characterized by thickening of the basement membrane and deposition of immune complexes in the subepithelial space.|HPO|N|
C0017668|Segmental accumulation of scar tissue in individual (but not all) glomeruli.|HPO|N|
C0017671|An extra-adrenal parasympathetic paraganglioma arising from paraganglia in the base of the skull and middle ear.|NCI|N|
C0017672|An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the tongue.|HPO|N|
C0017675|Inflammation of the tongue.|HPO|N|
C0017677|An anomaly of the tongue characterized by loss (atrophy) of filiform papillae of the tongue, leaving areas of erythema (redness), surrounded by a serpiginous, white, hyperkeratotic border. The name geographic tongue refers to an appearance that is said to be similar to a map.|HPO|N|
C0017689|An endocrine tumor of the pancreas that secretes excessive amounts of glucagon.|HPO|N|
C0017715|The biosynthesis of new glucose as opposed to that generated by the metabolism of glycogen. Gluconeogenesis occurs mainly in the liver or kidneys, and involves the biosynthesis of glucose from 3-carbon or 4-carbon non-carbohydrate precursors such as amino acids or fats.|NCI|N|
C0017919|An inherited metabolic disorder characterized either by defects in glycogen synthesis or defects in the breaking down of glycogen. It results either in the creation of abnormal forms of glycogen or accumulation of glycogen in the tissues.|NCI|N|
C0017920|Glycogen storage disease type I (GSDI) is characterized by accumulation of glycogen and fat in the liver and kidneys resulting in hepatomegaly and nephromegaly. Severely affected infants present in the neonatal period with severe hypoglycemia due to fasting intolerance. More commonly, untreated infants present at age three to four months with hepatomegaly, severe hypoglycemia with or without seizures, lactic acidosis, hyperuricemia, and hypertriglyceridemia. Affected children typically have doll-like faces with full cheeks, relatively thin extremities, short stature, and a protuberant abdomen. Xanthoma and diarrhea may be present. Impaired platelet function and development of reduced or dysfunctional von Willebrand factor can lead to a bleeding tendency with frequent epistaxis and menorrhagia in females. Individuals with untreated GSDIb are more likely to develop impaired neutrophil and monocyte function as well as chronic neutropenia resulting in recurrent bacterial infections, gingivitis, periodontitis, and genital and intestinal ulcers. Long-term complications of untreated GSDI include short stature, osteoporosis, delayed puberty, renal disease (including proximal and distal renal tubular acidosis, renal stones, and renal failure), gout, systemic hypertension, pulmonary hypertension, hepatic adenomas with potential for malignancy, pancreatitis, and polycystic ovaries. Seizures and cognitive impairment may occur in individuals with prolonged periods of hypoglycemia. Normal growth and puberty are expected in treated children. Most affected individuals live into adulthood.|GeneReviews|N|
C0017921|Pompe disease is classified by age of onset, organ involvement, severity, and rate of progression. Infantile-onset Pompe disease (IOPD; individuals with onset before age 12 months with cardiomyopathy) may be apparent in utero but more typically onset is at the median age of four months with hypotonia, generalized muscle weakness, feeding difficulties, failure to thrive, respiratory distress, and hypertrophic cardiomyopathy. Without treatment by enzyme replacement therapy (ERT), IOPD commonly results in death by age two years from progressive left ventricular outflow obstruction and respiratory insufficiency. Late-onset Pompe disease (LOPD; including: (a) individuals with onset before age 12 months without cardiomyopathy; and (b) all individuals with onset after age 12 months) is characterized by proximal muscle weakness and respiratory insufficiency; clinically significant cardiac involvement is uncommon.|GeneReviews|N|
C0017922|Glycogen storage disease type III (GSD III) is characterized by variable liver, cardiac muscle, and skeletal muscle involvement. GSD IIIa is the most common subtype, present in about 85% of affected individuals; it manifests with liver and muscle involvement. GSD IIIb, with liver involvement only, comprises about 15% of all affected individuals. In infancy and early childhood, liver involvement presents as hepatomegaly and failure to thrive, with fasting ketotic hypoglycemia, hyperlipidemia, and elevated hepatic transaminases. In adolescence and adulthood, liver disease becomes less prominent. Most individuals develop cardiac involvement with cardiac hypertrophy and/or cardiomyopathy. Skeletal myopathy manifesting as weakness may be evident in childhood and slowly progresses, typically becoming prominent in the third to fourth decade. The overall prognosis is favorable but cannot be predicted on an individual basis. Long-term complications such as muscular and cardiac symptoms as well as liver fibrosis/cirrhosis and hepatocellular carcinoma may have a severe impact on prognosis and quality of life. To date, it is unknown if long-term complications can be alleviated and/or avoided by dietary interventions.|GeneReviews|N|
C0017923|The clinical manifestations of glycogen storage disease type IV (GSD IV) discussed in this entry span a continuum of different subtypes with variable ages of onset, severity, and clinical features. Clinical findings vary extensively both within and between families. The fatal perinatal neuromuscular subtype presents in utero with fetal akinesia deformation sequence, including decreased fetal movements, polyhydramnios, and fetal hydrops. Death usually occurs in the neonatal period. The congenital neuromuscular subtype presents in the newborn period with profound hypotonia, respiratory distress, and dilated cardiomyopathy. Death usually occurs in early infancy. Infants with the classic (progressive) hepatic subtype may appear normal at birth, but rapidly develop failure to thrive; hepatomegaly, liver dysfunction, and progressive liver cirrhosis; hypotonia; and cardiomyopathy. Without liver transplantation, death from liver failure usually occurs by age five years. Children with the non-progressive hepatic subtype tend to present with hepatomegaly, liver dysfunction, myopathy, and hypotonia; however, they are likely to survive without progression of the liver disease and may not show cardiac, skeletal muscle, or neurologic involvement. The childhood neuromuscular subtype is rare and the course is variable, ranging from onset in the second decade with a mild disease course to a more severe, progressive course resulting in death in the third decade.|GeneReviews|N|
C0017924|Glycogen storage disease type V (GSDV, McArdle disease) is a metabolic myopathy characterized by exercise intolerance manifested by rapid fatigue, myalgia, and cramps in exercising muscles. Symptoms are usually precipitated by isometric exercise or sustained aerobic exercise. Most individuals improve their exercise tolerance by exploiting the "second-wind" phenomenon with relief of myalgia and fatigue after a few minutes of rest. Age of onset is frequently in the first decade of life but can vary; however, diagnosis is typically delayed as myalgia and fatigability are dismissed/overlooked. Fixed muscle weakness occurs in approximately 25% of affected individuals, is more likely to involve proximal muscles, and is more common in individuals of advanced age. Approximately 50% of affected individuals have recurrent episodes of myoglobinuria that can – on occasion – eventually result in acute renal failure.|GeneReviews|N|
C0017925|Glycogen storage disease type VI (GSD VI) is a disorder of glycogenolysis caused by deficiency of hepatic glycogen phosphorylase. This critical enzyme catalyzes the rate-limiting step in glycogen degradation, and deficiency of the enzyme in the untreated child is characterized by hepatomegaly, poor growth, ketotic hypoglycemia, elevated hepatic transaminases, hyperlipidemia, and low prealbumin level. GSD VI is usually a relatively mild disorder that presents in infancy and childhood; rare cases of more severe disease manifesting with recurrent hypoglycemia and marked hepatomegaly have been described. More common complications in the setting of suboptimal metabolic control include short stature, delayed puberty, osteopenia, and osteoporosis. Hepatic fibrosis commonly develops in GSD VI, but cirrhosis and hypertrophic cardiomyopathy are rare. Clinical and biochemical abnormalities may decrease with age, but ketosis and hypoglycemia can continue to occur.|GeneReviews|N|
C0017926|Glycogen storage disease VII is an autosomal recessive metabolic disorder characterized clinically by exercise intolerance, muscle cramping, exertional myopathy, and compensated hemolysis. Myoglobinuria may also occur. The deficiency of the muscle isoform of PFK results in a total and partial loss of muscle and red cell PFK activity, respectively. Raben and Sherman (1995) noted that not all patients with GSD VII seek medical care because in some cases it is a relatively mild disorder.|OMIM|N|
C0017927|An x-linked recessive hepatic glycogen storage disease resulting from lack of expression of phosphorylase-b-kinase activity. Symptoms are relatively mild; hepatomegaly, increased liver glycogen, and decreased leukocyte phosphorylase are present. Liver shrinkage occurs in response to glucagon.|MSH|N|
C0017952|A series of anaerobic chemical reactions that cells utilize to produce energy. Glycolysis is a biochemical pathway in which glucose is catabolized into lactate or pyruvate via enzymatic reactions to generate ATP.|NCI|N|
C0017979|An increased concentration of glucose in the urine.|HPO|N|
C0018013|An infection that is caused by nematodes of the genus Gnathostoma, which is commonly found in Southeast Asia, and which is transmitted via the consumption of contaminated raw/undercooked birds, eels, fish, frogs, or reptiles. The pattern of symptoms is species-dependent, and extraintestinal manifestations are due to larval migration (e.g., pulmonary infiltrates, eosinophilic meningitis, or painful, pruritic subcutaneous swellings, and peripheral blood eosinophilia).|NCI|N|
C0018018|Diseases of the domestic or wild goat of the genus Capra.|MSH|N|
C0018021|An enlargement of the thyroid gland.|HPO|N|
C0018022|Thyroid gland enlargement caused by inadequate dietary iodine intake. It occurs in areas in which the soil lacks iodine compounds or there is low seafood consumption.|NCI|N|
C0018023|Enlargement of the thyroid gland related to one or more nodules in the thyroid gland.|HPO|N|
C0018024|An enlarged thyroid gland with at least 50% of the gland situated behind the sternum. It is an unusual presentation of an intrathoracic goiter. Substernal goiters frequently cause compression on the trachea leading to deviation, narrowing, and respiratory symptoms.|MONDO|N|
C0018036|HYPERTENSION due to renal ISCHEMIA. In 1934, Harry Goldblatt described that hypertension can be produced experimentally by using a clamp to obstruct blood flow to one kidney, the Goldblatt phenomenon.|MSH|N|
C0018050|A non-neoplastic or neoplastic disorder that affects the testis or the ovary.|NCI|N|
C0018051|A congenital disorder characterized by the presence of extremely hypoplastic gonads preventing the development of secondary sex characteristics.|NCI|N|
C0018054|Unusual gonadal development in a person with a 46,XY male karyotype, leading to an unassigned sex differentiation.|HPO|N|
C0018055|A congenital condition characterized by asymmetrical gonadal development in an individual with mosaic karyotype 45,X/46,XY. 45,X/46,XY mosaic is the most common form of mixed gonadal dysgenesis.|NCI|N|
C0018074|A gonococcal infection of the lower urinary tract that is rapid in onset.|NCI|N|
C0018078|Inflammation of the urethra secondary to infection with Neisseria gonorrhoeae; this infection is spread through sexual contact.|NCI|N|
C0018081|An infection that is caused by Gonococcus.|NCI|N|
C0018099|Recurrent attacks of acute inflammatory arthritis of a joint or set of joints caused by elevated levels of uric acid in the blood which crystallize and are deposited in joints, tendons, and surrounding tissues.|HPO|N|
C0018121|Inflammation of PETROUS BONE secondary to chronic OTITIS MEDIA. Its symptoms include fever, occipital headache, ear and retroorbital pain, and facial paralysis.|MSH|N|
C0018128|Obstruction of flow in biological or prosthetic vascular grafts.|MSH|N|
C0018129|Failure of transplanted tissue to become functional or operational, often as a result of destruction by the host''s immune system.|NCI|N|
C0018133|A rare disease that occurs after allogeneic hematopoietic stem cell transplant and is a reaction of donor immune cells against host tissues. Activated donor T cells damage host epithelial cells after an inflammatory cascade that begins with the preparative regimen.|ORDO|N|
C0018134|An immunological attack mounted by a graft against the host because of HISTOINCOMPATIBILITY when immunologically competent cells are transplanted to an immunologically incompetent host; the resulting clinical picture is that of GRAFT VS HOST DISEASE.|MSH|N|
C0018179|The presence of central, fine, whitish granular lesions in the stroma of the cornea. This type of corneal dystrophy is usually asymptomatic and begins in childhood and shows a slow progression. Later in the course, the corneal epithelium and Bowman's layer may be affected. Histologically, the cornea shows a uniform deposition of hyaline material.|HPO|N|
C0018188|A compact, organized collection of mature mononuclear phagocytes, which may be but is not necessarily accompanied by accessory features such as necrosis.|HPO|N|
C0018190|A condition resulting from infection by Klebsiella granulomati, which is characterized by ulcerative lesions of the genitalia.|NCI|N|
C0018193|An inflammatory lesion comprised of epithelioid histiocytes and chronic inflammation that is caused by the presence of extraneous material.|NCI|N|
C0018194|An inflammatory lesion comprising large numbers of multinucleated cells that occurs in two forms: one, a central giant cell granuloma that occurs in the jaw, and that is characterised by large lesions that can both expand the cortical plate and resorb roots and move teeth; and, two, a peripheral giant cell granuloma that is found in soft tissue, usually the gingiva, is small, usually less than two centimeters, and often ulcerated. Treatment for both forms is most often surgical removal.|NCI|N|
C0018196|An inflammatory lesion of the vocal cords.|NCI|N|
C0018197|An aggressive, progressive, and destructive lesion affecting the nasal cavities, paranasal sinuses, and the palate. The vast majority of cases are malignant lymphoproliferations affecting the midline of the face in patients with nasal type extranodal NK/T-cell lymphoma.|NCI|N|
C0018199|An inflammatory lesion of the lungs comprised of plasma cells and fibrous tissue.|NCI|N|
C0018200|Granulomatous disorders affecting one or more sites in the respiratory tract.|MSH|N|
C0018202|Inflammation of the arteries that is characterized by the presence of granulomas.|NCI|N|
C0018203|A rare primary immunodeficiency, mainly affecting phagocytes, which is characterized by an increased susceptibility to severe and recurrent bacterial and fungal infections, along with the development of granulomas.|ORDO|N|
C0018204|An infectious or non-infectious inflammatory process that affects the prostate gland. Infectious causative agents include bacteria, parasites, fungi, and viruses. It is characterized by the formation of granulomas in the prostatic tissue.|NCI|N|
C0018206|A slow-growing sex cord-stromal tumor characterized by the presence of granulosa-like cells and Call-Exner bodies. It is almost always found in the ovary and rarely in the testis. There are two types of granulosa cell tumors: the adult and the juvenile.|NCI|N|
C0018213|An autoimmune disease where the thyroid is overactive, producing an excessive amount of thyroid hormones (a serious metabolic imbalance known as hyperthyroidism and thyrotoxicosis). This is caused by autoantibodies to the TSH-receptor (TSHR-Ab) that activate that TSH-receptor (TSHR), thereby stimulating thyroid hormone synthesis and secretion, and thyroid growth (causing a diffusely enlarged goiter). The resulting state of hyperthyroidism can cause a dramatic constellation of neuropsychological and physical signs and symptoms, which can severely compromise the patients.|HPO|N|
C0018273|Deviations from the average values for a specific age and sex in any or all of the following: height, weight, skeletal proportions, osseous development, or maturation of features. Included here are both acceleration and retardation of growth.|MSH|N|
C0018378|A clinically heterogeneous spectrum of rare post-infectious neuropathies that usually occur in otherwise healthy patients and encompasses acute inflammatory demyelinating polyradiculoneuropathy (AIDP), acute motor axonal neuropathy (AMAN) and acute motor-sensory axonal neuropathy (AMSAN), Miller-Fisher syndrome (MFS) and some other regional variants.|ORDO|N|
C0018413|A sex cord-gonadal stromal tumor, composed of cells of both the OVARY and the TESTIS. It produces both male and female GONADAL STEROID HORMONES.|MSH|N|
C0018414|A congenital or acquired occlusion of an opening in any part of the female genital tract.|NCI|N|
C0018418|Abnormal development of large mammary glands in males resulting in breast enlargement.|HPO|N|
C0018425|Gyrate atrophy of the choroid and retina (GACR) due to deficiency of ornithine aminotransferase is clinically characterized by a triad of progressive chorioretinal degeneration, early cataract formation, and type II muscle fiber atrophy. Characteristic chorioretinal atrophy with progressive constriction of the visual fields leads to blindness at the latest during the sixth decade of life. Patients generally have normal intelligence (summary by Peltola et al., 2002).
See 238970 for another hyperornithinemia syndrome.|OMIM|N|
C0018477|Infection with nematodes of the genus haemonchus, characterized by digestive abnormalities and anemia similar to that from hookworm infestation.|MONDO|N|
C0018482|An infection that is caused by the organism Hemophilus.|NCI|N|
C0018500|A non-neoplastic or neoplastic disorder involving the hair. Representative examples include folliculitis, alopecia, tricholemmoma, and pilomatrical carcinoma.|NCI|N|
C0018508|A usually benign congenital skin growth that is often pigmented and sometimes develop coarse surface hair. There is a lifetime risk of transformation to malignant melanoma which varies depending on the size of the lesion.|NCI|N|
C0018520|Noticeably unpleasant odors exhaled in breathing.|HPO|N|
C0018522|Hallermann-Streiff syndrome is characterized by a typical skull shape (brachycephaly with frontal bossing), hypotrichosis, microphthalmia, cataracts, beaked nose, micrognathia, skin atrophy, dental anomalies, and proportionate short stature (Hallermann, 1948; Streiff, 1950; Francois, 1958). Mental retardation is present in a minority of cases (Gorlin et al., 1990).|OMIM|N|
C0018523|Pantothenate kinase-associated neurodegeneration (PKAN) is a type of neurodegeneration with brain iron accumulation (NBIA). The phenotypic spectrum of PKAN includes classic PKAN and atypical PKAN. Classic PKAN is characterized by early-childhood onset of progressive dystonia, dysarthria, rigidity, and choreoathetosis. Pigmentary retinal degeneration is common. Atypical PKAN is characterized by later onset (age >10 years), prominent speech defects, psychiatric disturbances, and more gradual progression of disease.|GeneReviews|N|
C0018524|Perceptions in a conscious and awake state that, in the absence of external stimuli, have qualities of real perception. These perceptions are vivid, substantial, and located in external objective space.|HPO|N|
C0018526|A substance abuse that involves the recurring use of hallucinogenic drugs despite negative consequences.|MONDO|N|
C0018528|A drug dependence for a hallucinogenic substance.|NCI|N|
C0018536|Lateral deviation of the great toe (i.e., in the direction of the little toe).|HPO|N|
C0018552|A disordered proliferation of mature tissues that is native to the site of origin, e.g., exostoses, nevi and soft tissue hamartomas. Although most hamartomas are benign, some histologic subtypes, e.g., neuromuscular hamartoma, may proliferate aggressively such as mesenchymal cystic hamartoma, Sclerosing epithelial hamartoma, Sclerosing metanephric hamartoma.|HPO|N|
C0018553|Cowden syndrome-1 is a hamartomatous disorder characterized by macrocephaly, facial trichilemmomas, acral keratoses, papillomatous papules, and an increased risk for the development of breast, thyroid, and endometrial carcinoma. Bannayan-Riley-Ruvalcaba syndrome (BRRS), previously thought be distinct, shared clinical characteristics with Cowden syndrome, such as hamartomatous polyps of the gastrointestinal tract, mucocutaneous lesions, and increased risk of developing neoplasms, but had the additional features of developmental delay, macrocephaly, lipomas, hemangiomas, and pigmented speckled macules of the glans penis in males. Because features of BRRS and Cowden syndrome have been found in individuals within the same family with the same PTEN mutation, Cowden syndrome-1 and BRRS are considered to be the same disorder with variable expression and age-related penetrance (summary by Marsh et al., 1999, Lachlan et al., 2007, and Blumenthal and Dennis, 2008).
Approximately 80% of patients reported with Cowden syndrome and 60% with BRSS have PTEN mutations (Blumenthal and Dennis, 2008).
Some patients with Cowden syndrome may have immune system defects resulting in increased susceptibility to infections (summary by Browning et al., 2015).|OMIM|N|
C0018564|An abnormality affecting one or both hands.|HPO|N|
C0018566|Alterations or deviations from normal shape or size which result in a disfigurement of the hand occurring at or before birth.|MSH|N|
C0018567|Skin conditions characterized by dense infiltration of inflammatory cells (neutrophils) in the affected tissue. They arise in reaction to some underlying systemic illness. A neutrophilic dermatosis may be seen in isolation or more than one type may occur in the same individual.|MONDO|N|
C0018572|A clinical syndrome that is usually caused by enterovirus infection, and that is characterized by fever, anorexia, and painful sores in the mouth, distal extremities, and/or other sites, including the buttocks.|NCI|N|
C0018598|A melanin-forming tumor that arose spontaneously in a non-inbred mouse, and that is transplantable to mice of many strains but does not ordinarily metastasize. (dictionarybarn.com)|NCI|N|
C0018609|Hartnup disorder (HND) is characterized by transient manifestations of pellagra, cerebellar ataxia, and psychosis. It is caused by impaired transport of neutral amino acids across epithelial cells in renal proximal tubules and intestinal mucosa (summary by Kleta et al., 2004).|OMIM|N|
C0018621|An allergy experienced at a particular time of year when trees or grasses pollinate and elicit an allergic reaction.|HPO|N|
C0018671|A tumor (abnormal growth of tissue) of the head and neck region with origin in the lip, oral cavity, nasal cavity, paranasal sinuses, pharynx, or larynx.|HPO|N|
C0018672|Habitual striking of one's own head against a surface such as a mattress or wall of a crib.|HPO|N|
C0018681|Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve.|HPO|N|
C0018748|The ability of individuals or a population to utilize and obtain care from the health care system.|NCI|N|
C0018759|Health status of a family member with respect to the disease being investigated in a proband.|HPO|N|
C0018772|A condition in which a person partially loses the ability to hear sounds in one or both ears.|NCI|N|
C0018775|Partial hearing loss in both ears.|MSH|N|
C0018776|Hearing loss resulting from disorders of the central nervous system auditory pathways.|NCI|N|
C0018777|An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound.|HPO|N|
C0018779|Hearing loss in the absence of auditory system pathology.|NCI|N|
C0018780|A type of hearing impairment affecting primarily the higher frequencies of sound (3,000 to 6,000 Hz).|HPO|N|
C0018781|Regular exposure to continuous noise or an exposure to a single acoustic overstimulation can lead to noise-induced hearing loss (NIHL). Millions of people worldwide are exposed daily to harmful levels of noise, making NIHL a likely widespread occupational health hazard. NIHL is a complex disease resulting from an interaction between genetic and environmental factors and is highly variable between individuals (Konings et al., 2009).|OMIM|N|
C0018784|A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.|HPO|N|
C0018789|A localized bulging or dilatation in the muscle wall of a heart (myocardium), usually in the left ventricle. Blood-filled aneurysms are dangerous because they may burst. Fibrous aneurysms interfere with the heart function through the loss of contractility. True aneurysm is bound by the vessel wall or cardiac wall. False aneurysms are hematoma caused by myocardial rupture.|MONDO|N|
C0018790|An abrupt loss of heart function.|HPO|N|
C0018794|Impaired conduction of cardiac impulse occurring anywhere along the conduction pathway.|HPO|N|
C0018798|Any structural anomaly of the heart.|HPO|N|
C0018799|A non-neoplastic or neoplastic disorder that affects the heart and/or the pericardium. Representative examples include endocarditis, pericarditis, atrial myxoma, cardiac myeloid sarcoma, and pericardial malignant mesothelioma.|NCI|N|
C0018800|Increased size of the heart, clinically defined as an increased transverse diameter of the cardiac silhouette that is greater than or equal to 50% of the transverse diameter of the chest (increased cardiothoracic ratio) on a posterior-anterior projection of a chest radiograph or a computed tomography.|HPO|N|
C0018801|Inability of the heart to pump blood at an adequate rate to meet tissue metabolic requirements. Clinical symptoms of heart failure include: unusual dyspnea on light exertion, recurrent dyspnea occurring in the supine position, fluid retention or rales, jugular venous distension, pulmonary edema on physical exam, or pulmonary edema on chest x-ray presumed to be cardiac dysfunction.|NCI|N|
C0018802|The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction.|HPO|N|
C0018808|An extra or unusual sound heard during a heartbeat caused vibrations resulting from the flow of blood through the heart.|HPO|N|
C0018809|A tumor (abnormal growth of tissue) of the heart.|HPO|N|
C0018811|The number of fetal cardiac beats per minute.|NCI|N|
C0018813|Tearing of the heart muscle.|NCI|N|
C0018814|Tearing of the heart muscle as a sequela of acute myocardial infarction.|NCI|N|
C0018816|An anomaly of the intra-atrial or intraventricular septum.|HPO|N|
C0018817|Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum.|HPO|N|
C0018818|A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum.|HPO|N|
C0018824|Any heart disorder characterized by a defect in valve structure or function.|NCI|N|
C0018834|Abdominal discomfort with retrosternal pain usually associated with gastroesophageal reflux.|NCI|N|
C0018835|A tick-borne septicemic disease of domestic and wild ruminants caused by EHRLICHIA RUMINANTIUM.|MSH|N|
C0018852|Heavy-chain diseases (HCDs) are rare monoclonal lymphoplasma-cell proliferative disorders involving B cells and are characterized by the synthesis of truncated heavy chains without associated light chains.|ORDO|N|
C0018854|A type of HCD characterized by the production of incomplete monoclonal gamma-heavy chains without associated light chains. The clinical presentation most commonly resembles that of patients with systemic lymphoproliferative/autoimmune diseases.|ORDO|N|
C0018862|Bony swelling of the distal interphalangeal joint (DIP) associated with the formation of osteophytes (calcific spurs) of the articular (joint) cartilage that are visible radiographically.|HPO|N|
C0018871|A type of erythrocyte inclusion composed of denatured hemoglobin.|HPO|N|
C0018889|A parasitic infection characterized by the infestation with worms, mainly in the intestine.|NCI|N|
C0018891|Infestation of animals with parasitic worms of the helminth class. The infestation may be experimental or veterinary.|MSH|N|
C0018903|The aggregation of ERYTHROCYTES by AGGLUTININS, including antibodies, lectins, and viral proteins (HEMAGGLUTINATION, VIRAL).|MSH|N|
C0018915|A vascular proliferation characterized by the presence of prominent endothelial cells and the formation of vascular channels. Hemangioendotheliomas may display borderline or low grade characteristics.|NCI|N|
C0018916|A hemangioma is a benign tumor characterized by blood-filled spaces lined by benign endothelial cells. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma (in contrast to a hemangioma with small endothelial spaces, which is called capillary hemangioma).|HPO|N|
C0018920|The presence of a cavernous hemangioma. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma.|HPO|N|
C0018922|An antiquated term that refers to benign or malignant mesenchymal neoplasms characterized by the presence of neoplastic spindle-shaped to round cells arranged around thin-walled branching vascular spaces.|NCI|N|
C0018923|A rare vascular tumor characterized by a malignant space-occupying lesion composed of cells variably recapitulating features of normal endothelium. It mostly develops as a cutaneous tumor and is much less frequently located in the deep soft tissue. Clinical presentation is an enlarging mass, sometimes with symptoms like coagulopathy, anemia, persistent hematoma, or bruisability. Some tumors are associated with pre-existing conditions, e. g. Klippel-Trenaunay syndrome, Maffucci syndrome, or following radiation, among others. Older age, retroperitoneal location, large size, and high mitotic activity are predictors for poor outcome.|ORDO|N|
C0018924|Hemorrhage occurring within a joint.|HPO|N|
C0018926|The vomiting of blood.|HPO|N|
C0018931|Hemorrhage into a canal or cavity of the body, such as the space covered by the serous membrane (tunica vaginalis) around the testis leading to testicular hematocele or scrotal hematocele.|MONDO|N|
C0018932|The passage of fresh (red) blood per anus, usually in or with stools. Most rectal bleeding comes from the colon, rectum, or anus.|HPO|N|
C0018934|Accumulation of blood in the vagina usually due to vaginal obstruction.|HPO|N|
C0018939|A neoplastic or non-neoplastic disorder that affects the production and proliferation of the hematopoietic cells including lymphoid cells, the synthesis of hemoglobin, and/or the mechanisms of coagulation.|NCI|N|
C0018944|A localized collection of blood, usually clotted, in an organ, space, or tissue, due to a break in the wall of a blood vessel.|NCI|N|
C0018946|Hemorrhage occurring between the dura mater and the arachnoid mater.|HPO|N|
C0018948|Retention of blood in the uterine cavity.|SNOMEDCT_US|N|
C0018962|The presence of blood in a fallopian tube.|NCI|N|
C0018965|The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine).|HPO|N|
C0018975|A visual defect characterized by the inability to see as clearly in bright light as in dim light. The word hemeralopia literally means day blindness.|HPO|N|
C0018979|Partial or complete loss of vision in one half of the visual field of one or both eyes.|HPO|N|
C0018987|Hemimelia is a limb malformation characterized by the absence or gross shortening of the lower portion of one or more of the limbs. The condition is designated according to which bone of the distal arm or leg is absent or defective and includes fibular, radial, tibial, or ulnar hemimelia (see these terms). Hemimelia ranges in severity.|ORDO|N|
C0018989|Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a complete loss of strength, whereas hemiparesis refers to an incomplete loss of strength.|HPO|N|
C0018991|Paralysis (complete loss of muscle function) in the arm, leg, and in some cases the face on one side of the body.|HPO|N|
C0018994|Bleeding into the biliary tree.|HPO|N|
C0018995|Accumulation of iron in internal organs.|NCI|N|
C0019021|Hemoglobin C disease (HbC) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin C, with no or mild clinical manifestations (hemolytic anemia).|ORDO|N|
C0019024|A tetrameric complex of 2 molecules of hemoglobin subunit alpha (encoded by either the HBA1 or HBA2 gene) and 2 molecules of a hemoglobin subunit beta variant where the glutamic acid residue at position 27 has been replaced by lysine.|NCI|N|
C0019025|The persistence of substantial fetal hemoglobin production into adulthood, usually associated with hemoglobinopathies due to mutations in the alpha and/or beta chain of hemoglobin.|NCI|N|
C0019026|Hemoglobin H (HbH) contains four beta-globin chains. It is normally not present at all in blood, but may make up about 1-40 percent of all hemoglobin in HbH disease, a subform of alpha thalassemia.|HPO|N|
C0019034|A rare, genetic hemoglobinopathy characterized by anemia, reticulocytosis and erythrocyte abnormalities including target cells, irreversibly sickled cells and crystal-containing cells. Clinical course is similar to sickle cell disease, but less severe and with less complications. Signs and symptoms may include acute episodes of pain, splenic infarction and splenic sequestration crisis, acute chest syndrome, focal segmental glomerulosclerosis, ischemic brain injury, peripheral retinopathy, and osteonecrosis.|ORDO|N|
C0019045|An inherited disorder characterized by structural alterations of a globin chain within the hemoglobin molecule.|NCI|N|
C0019048|The presence of free hemoglobin in the urine.|HPO|N|
C0019049|Hemoglobin in the urine that is due to hemolysis from an external cause.|NCI|N|
C0019050|A condition characterized by the recurrence of HEMOGLOBINURIA caused by intravascular HEMOLYSIS. In cases occurring upon cold exposure (paroxysmal cold hemoglobinuria), usually after infections, there is a circulating antibody which is also a cold hemolysin. In cases occurring during or after sleep (paroxysmal nocturnal hemoglobinuria), the clonal hematopoietic stem cells exhibit a global deficiency of cell membrane proteins.|MSH|N|
C0019061|A thrombotic microangiopathy with presence of non-immune, intravascular hemolytic anemia, thrombocytopenia and acute kidney injury. A vicious cycle of complement activation, endothelial cell damage, platelet activation, and thrombosis is the hallmark of the disease.|HPO|N|
C0019064|Accumulation of blood within the pericardial sac.|HPO|N|
C0019065|Accumulation of blood in the peritoneal cavity owing to internal hemorrhage.|HPO|N|
C0019066|Bleeding into the peritoneal cavity that is not associated with physical trauma.|NCI|N|
C0019068|Proliferation of HISTIOCYTES in response to viral, bacterial, fungal, or parasitic infections.|MSH|N|
C0019069|Hemophilia A is characterized by deficiency in factor VIII clotting activity that results in prolonged oozing after injuries, tooth extractions, or surgery, and delayed or recurrent bleeding prior to complete wound healing. The age of diagnosis and frequency of bleeding episodes are related to the level of factor VIII clotting activity. Individuals with severe hemophilia A are usually diagnosed during the first two years of life following oral or soft tissue bleeding either with procedures or due to a known family history of hemophilia. Without prophylactic treatment, individuals may average up to two to five spontaneous bleeding episodes each month including spontaneous joint bleeds or deep-muscle hematomas, and prolonged bleeding or excessive pain and swelling from minor injuries, surgery, and tooth extractions. Individuals with moderate hemophilia A seldom have spontaneous bleeding, although it varies between individuals; however, they do have prolonged or delayed bleeding after relatively minor trauma and are usually diagnosed before age five to six years; the frequency of bleeding episodes varies, usually from once a month to once a year. Individuals with mild hemophilia A do not have spontaneous bleeding episodes; however, without pre- and postoperative treatment, abnormal bleeding occurs with surgery or tooth extractions; the frequency of bleeding episodes varies widely, typically from once a year to once every ten years. Individuals with mild hemophilia A are often not diagnosed until later in life. Approximately 30% of heterozygous females have factor VIII clotting activity below 40% and are at risk for bleeding (even if males in the family are only mildly affected). After major trauma or invasive procedures, prolonged or excessive bleeding usually occurs, regardless of severity. In addition, 25% of heterozygous females with normal factor VIII clotting activity report an increased bleeding tendency.|GeneReviews|N|
C0019077|Collection of air and blood in the pleural cavity.|MONDO|N|
C0019079|Coughing up (expectoration) of blood or blood-streaked sputum from the larynx, trachea, bronchi, or lungs.|HPO|N|
C0019080|The flow of blood from a ruptured blood vessel.|NCI|N|
C0019081|Bleeding originating from the rectal wall and anus.|NCI|N|
C0019086|Accumulation of hemorrhagic fluid in the peritoneal cavity.|NCI|N|
C0019087|Spontaneous or near spontaneous bleeding caused by a defect in clotting mechanisms (blood coagulation disorders) or another abnormality causing a structural flaw in the blood vessels (hemostatic disorders).|MONDO|N|
C0019088|A condition characterized as a coagulation disturbance in newborns due to vitamin K deficiency resulting in impaired production of coagulation factors II, VII, IX, and X, and proteins C and S by the liver.|NCI|N|
C0019096|Diseases caused by American hemorrhagic fever viruses (ARENAVIRUSES, NEW WORLD).|MSH|N|
C0019097|A disorder that caused by the Junin virus (JUNV), is an acute viral hemorrhagic disease characterized by initial fever and malaise followed by gastrointestinal symptoms and in some cases hemorrhagic and neurological manifestations.|ORDO|N|
C0019099|Crimean-Congo hemorrhagic fever (CCHF) is a tick-borne zoonotic disease caused by CCHF virus and characterized by initial fever, headache, and malaise followed by gastrointestinal symptoms and, in severe cases, bleeding, shock, and multi-organ system failure.|ORDO|N|
C0019100|A serious condition caused by Dengue virus infection. Patients present with an acute febrile illness followed by restlessness, irritability, and bleeding. It may lead to hemorrhagic shock and death.|NCI|N|
C0019101|Hemorrhagic fever with renal syndrome (HFRS) is a rodent-borne potentially severe hemorrhagic disease caused by Old World Hantaviruses characterized by high fever, malaise, headache, myalgia, arthralgia, backache, abdominal pain, oliguria/renal failure and systemic hemorrhagic manifestations.|SNOMEDCT_US|N|
C0019103|Omsk hemorrhagic fever (OHF), caused by Omsk hemorrhagic fever virus (OHFV), is a zoonotic disease characterized by fever, nausea, myalgia and moderately severe hemorrhagic manifestations as well as in some cases meningitis, pneumonia and nephrosis.|ORDO|N|
C0019104|Viral hemorrhagic fever is a group of recently discovered contagious viral infections characterized by severe, multiple, and often fatal hemorrhages. African fevers include Lassa fever discovered in 1969, Marburg's disease that first occurred in 1967, and Ebola fever that appeared in 1976. Other viruses may also cause hemorrhagic fevers (for example, arbovirus fever).|ORDO|N|
C0019112|Enlarged, bulging blood vessels in and around the anus often associated with rectal bleeding, itching, and pain.|HPO|N|
C0019114|Accumulation of iron in internal organs.|MONDO|N|
C0019123|The presence of blood in the pleural space.|HPO|N|
C0019147|A syndrome characterized by central nervous system dysfunction in association with liver failure, including portal-systemic shunts. Clinical features include lethargy and confusion (frequently progressing to coma); asterixis; nystagmus, pathologic; brisk oculovestibular reflexes; decorticate and decerebrate posturing; muscle spasticity; and bilateral extensor plantar reflexes (see reflex, babinski). electroencephalography may demonstrate triphasic waves. (From Adams et al., Principles of Neurology, 6th ed, pp1117-20; Plum & Posner, Diagnosis of Stupor and Coma, 3rd ed, p222-5)|MONDO|N|
C0019151|Central nervous system dysfunction in association with liver failure and characterized clinically (depending on degree of severity) by lethargy, confusion, nystagmus, decorticate posturing, spasticity, and bilateral Babinski reflexes.|HPO|N|
C0019154|An obstruction in the veins of the liver caused by a blood clot (thrombosis).|HPO|N|
C0019156|A rare vascular liver disease characterized by toxic injury to the hepatic sinusoidal capillaries that leads to obstruction of the small hepatic veins and sinusoids. Clinical manifestations include painful hepatomegaly, jaundice, and fluid retention that manifests by weight gain, edemas, and ascites.|ORDO|N|
C0019158|Inflammation of the liver.|HPO|N|
C0019159|Acute inflammation of the liver caused by the hepatitis A virus. It is highly contagious and usually contracted through close contact with an infected individual or their feces, contaminated food or water.|NCI|N|
C0019163|A viral infection caused by the hepatitis B virus.|NCI|N|
C0019187|Inflammation of the liver resulting from ingestion of alcohol.|NCI|N|
C0019188|INFLAMMATION of the LIVER in non-human animals.|MSH|N|
C0019189|Hepatitis that lasts for more than six months.|HPO|N|
C0019191|A contagious disease caused by canine adenovirus (ADENOVIRUSES, CANINE) infecting the LIVER, the EYE, the KIDNEY, and other organs in dogs, other canids, and bears. Symptoms include FEVER; EDEMA; VOMITING; and DIARRHEA.|MSH|N|
C0019194|INFLAMMATION of the LIVER in animals due to viral infection.|MSH|N|
C0019195|INFLAMMATION of the LIVER in humans due to infection by VIRUSES. There are several significant types of human viral hepatitis with infection caused by enteric-transmission (HEPATITIS A; HEPATITIS E) or blood transfusion (HEPATITIS B; HEPATITIS C; and HEPATITIS D).|MSH|N|
C0019196|A viral infection caused by the hepatitis C virus.|NCI|N|
C0019202|Wilson disease is a disorder of copper metabolism that can present with hepatic, neurologic, or psychiatric disturbances, or a combination of these, in individuals ranging from age three years to older than 50 years; symptoms vary among and within families. Liver disease includes recurrent jaundice, simple acute self-limited hepatitis-like illness, autoimmune-type hepatitis, fulminant hepatic failure, or chronic liver disease. Neurologic presentations include movement disorders (tremors, poor coordination, loss of fine-motor control, chorea, choreoathetosis) or rigid dystonia (mask-like facies, rigidity, gait disturbance, pseudobulbar involvement). Psychiatric disturbance includes depression, neurotic behaviors, disorganization of personality, and, occasionally, intellectual deterioration. Kayser-Fleischer rings, frequently present, result from copper deposition in Descemet's membrane of the cornea and reflect a high degree of copper storage in the body.|GeneReviews|N|
C0019209|Abnormally increased size of the liver.|HPO|N|
C0019212|A syndrome characterized by progressive kidney failure in a patient with cirrhosis or fulminant liver failure.|NCI|N|
C0019214|Simultaneous enlargement of the liver and spleen.|HPO|N|
C0019243|Hereditary angioedema-1 and -2 (HAE1 and HAE2) refer to disorders caused by mutation in the SERPING1 (C1HN) gene. The disorders are clinically indistinguishable: both are characterized by episodic local subcutaneous edema and submucosal edema involving the upper respiratory and gastrointestinal tracts. HAE1, representing 85% of patients, is characterized by serum levels of C1NH less than 35% of normal (Cicardi and Agostoni, 1996; Bowen et al., 2001). HAE2 is characterized by normal or even elevated C1NH levels, but the protein is nonfunctional.
Genetic Heterogeneity of Hereditary Angioedema
See also HAE3 (610618), caused by mutation in the F12 gene (610619) on chromosome 5q35; HAE4 (619360), caused by mutation in the PLG gene (173350) on chromosome 6q26; HAE5 (619361), caused by mutation in the ANGPT1 gene (601667) on chromosome 8q23; HAE6 (619363), caused by mutation in the KNG1 gene (612358) on chromosome 3q27; HAE7 (619366), caused by mutation in the myoferlin gene (MYOF; 604603) on chromosome 10q23; and HAE8 (619367), caused by mutation in the HS3ST6 gene (619210) on chromosome 16p13.
See also 300145 for a discussion of angioedema induced by ACE inhibitors.
Zuraw (2008), Bork et al. (2020), and Veronez et al. (2021) provided detailed reviews of the clinical features, management, and pathogenesis of the different genetic forms of hereditary angioedema. The pathogenesis is complex and is related to excessive production of bradykinin, which causes dilation, as well as to other signaling pathways that regulate vascular permeability.|OMIM|N|
C0019247|Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders.|NCI|N|
C0019250|An inherited blood coagulation disorder characterized by the partial or complete absence of fibrinogen in the blood, resulting in bleeding.|NCI|N|
C0019266|The transmission of traits encoded in GENES from parent to offspring.|MSH|N|
C0019269|An organism having both male and female sexual characteristics and organs.|NCI|N|
C0019270|The protrusion of part of an organ or fibroadipose tissue through an abnormal opening.|NCI|N|
C0019275|The protrusion of an organ, or the fascia of an organ, through the wall of the cavity that normally contains it, without mention of obstruction or necrosis of the herniated contents.|NCI|N|
C0019284|A congenital or acquired weakness or opening in the diaphragm which allows abdominal contents to protrude into the chest cavity; congenital diaphragmatic hernias are caused when the embryonic diaphragm fails to fuse.|NCI|N|
C0019287|Protrusion of abdominal cavity contents or pre-peritoneal fat through the abdominal wall between the umbilicus and the xiphoid process.|NCI|N|
C0019288|A hernia which occurs just below the inguinal ligament, where abdominal contents pass through a naturally occurring weakness called the femoral canal.|HPO|N|
C0019294|Protrusion of the contents of the abdominal cavity through the inguinal canal.|HPO|N|
C0019295|A protrusion of the abdominal cavity contents into the inguinal canal through the superficial inguinal ring.|NCI|N|
C0019296|A protrusion of the abdominal cavity contents into the inguinal canal through the deep and superficial inguinal rings.|NCI|N|
C0019310|A pelvic hernia through the obturator foramen, a large aperture in the hip bone normally covered by a membrane. Obturator hernia can lead to intestinal incarceration and INTESTINAL OBSTRUCTION.|MSH|N|
C0019319|The protrusion of abdominal cavity contents into the scrotal sac.|NCI|N|
C0019322|Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect.|HPO|N|
C0019326|Ventral hernia refers to a condition in which abdominal contents protrude through a weakened portion of the abdominal wall.|HPO|N|
C0019337|Addiction to heroin.|HPO|N|
C0019338|A viral infectious disease that results in infection located in mouth, has material basis in Human coxsackievirus A16, has material basis in Human enterovirus 71, has material basis in group B coxsackievirus, or has material basis in echoviruses, which are transmitted by ingestion of food contaminated with feces, transmitted by contact with pharyngeal secretions, or transmitted by droplet spread of oronasal secretions. The infection has symptom fever, has symptom sore throat, and has symptom lesions in the back area of the mouth, particularly the soft palate or tonsillar pillars.|MONDO|N|
C0019342|Herpes simplex infection of the genitals, most commonly caused by the herpes simplex-2 virus.|NCI|N|
C0019343|A rare autoimmune bullous skin disease characterized by pruritus with or without polymorphic skin eruption, affecting pregnant women typically during the second and third trimester.|ORDO|N|
C0019345|A lesion caused by type 1 or type 2 herpes simplex virus, involving the oralfacial region.|NCI|N|
C0019348|An infection that is caused by herpes simplex virus.|NCI|N|
C0019357|A superficial, epithelial Herpesvirus hominis infection of the cornea, characterized by the presence of small vesicles which may break down and coalesce to form dendritic ulcers (keratitis, dendritic). (Dictionary of Visual Science, 3d ed)|MONDO|N|
C0019360|A common dermal and neurologic disorder caused by reactivation of the varicella-zoster virus that has remained dormant within dorsal root ganglia, often for decades, after the patient''s initial exposure to the virus in the form of varicella (chickenpox). It is characterized by severe neuralgic pain along the distribution of the affected nerve and crops of clustered vesicles over the area.|NCI|N|
C0019362|A form of herpes zoster infection characterized by dermatitis of the skin of the eyelid due to reactivation of latent virus associated with the ophthalmic branch of the trigeminal nerve.|NCI|N|
C0019364|Virus infection of the Gasserian ganglion and its nerve branches characterized by pain and vesicular eruptions with much swelling. Ocular involvement is usually heralded by a vesicle on the tip of the nose. This area is innervated by the nasociliary nerve.|MONDO|N|
C0019372|An infection caused by a herpesvirus.|NCI|N|
C0019386|Infection of the vulva and the vagina caused by herpes simplex virus.|NCI|N|
C0019521|An involuntary contraction of the diaphragm against closed vocal cords, producing the ""hic"" sound.|NCI|N|
C0019522|A benign epithelial neoplasm arising from the sweat glands. Variants include the clear cell and nodular hidradenoma.|NCI|N|
C0019537|A syndrome related to increased atmospheric pressure and characterized by tremors, nausea, dizziness, decreased motor and mental performance, and seizures. This condition may occur in those who dive deeply (c. 1000 ft) usually while breathing a mixture of oxygen and helium. The condition is associated with a neuroexcitatory effect of helium.|MONDO|N|
C0019553|Permanent fixation of the hip in primary positions, with limited passive or active motion at the hip joint. Locomotion is difficult and pain is sometimes present when the hip is in motion. It may be caused by trauma, infection, or poliomyelitis. (From Current Medical Information & Technology, 5th ed)|MSH|N|
C0019554|Displacement of the femur from its normal location in the hip joint.|HPO|N|
C0019556|A hereditary disease of the hip joints in dogs. Signs of the disease may be evident any time after 4 weeks of age.|MSH|N|
C0019559|Joint pain affecting the hip.|HPO|N|
C0019562|Von Hippel-Lindau (VHL) syndrome is characterized by hemangioblastomas of the brain, spinal cord, and retina; renal cysts and clear cell renal cell carcinoma; pheochromocytoma, pancreatic cysts, and neuroendocrine tumors; endolymphatic sac tumors; and epididymal and broad ligament cysts. Cerebellar hemangioblastomas may be associated with headache, vomiting, gait disturbances, or ataxia. Spinal hemangioblastomas and related syrinx usually present with pain. Sensory and motor loss may develop with cord compression. Retinal hemangioblastomas may be the initial manifestation of VHL syndrome and can cause vision loss. Renal cell carcinoma occurs in about 70% of individuals with VHL and is the leading cause of mortality. Pheochromocytomas can be asymptomatic but may cause sustained or episodic hypertension. Pancreatic lesions often remain asymptomatic and rarely cause endocrine or exocrine insufficiency. Endolymphatic sac tumors can cause hearing loss of varying severity, which can be a presenting symptom. Cystadenomas of the epididymis are relatively common. They rarely cause problems, unless bilateral, in which case they may result in infertility.|GeneReviews|N|
C0019569|The disorder described by Hirschsprung (1888) and known as Hirschsprung disease or aganglionic megacolon is characterized by congenital absence of intrinsic ganglion cells in the myenteric (Auerbach) and submucosal (Meissner) plexuses of the gastrointestinal tract. Patients are diagnosed with the short-segment form (S-HSCR, approximately 80% of cases) when the aganglionic segment does not extend beyond the upper sigmoid, and with the long-segment form (L-HSCR) when aganglionosis extends proximal to the sigmoid (Amiel et al., 2008). Total colonic aganglionosis and total intestinal HSCR also occur.
Genetic Heterogeneity of Hirschsprung Disease
Several additional loci for isolated Hirschsprung disease have been mapped. HSCR2 (600155) is associated with variation in the EDNRB gene (131244) on 13q22; HSCR3 (613711) is associated with variation in the GDNF gene (600837) on 5p13; HSCR4 (613712) is associated with variation in the EDN3 gene (131242) on 20q13; HSCR5 (600156) maps to 9q31; HSCR6 (606874) maps to 3p21; HSCR7 (606875) maps to 19q12; HSCR8 (608462) maps to 16q23; and HSCR9 (611644) maps to 4q31-q32.
HSCR also occurs as a feature of several syndromes including the Waardenburg-Shah syndrome (277580), Mowat-Wilson syndrome (235730), Goldberg-Shprintzen syndrome (609460), and congenital central hypoventilation syndrome (CCHS; 209880).
Whereas mendelian modes of inheritance have been described for syndromic HSCR, isolated HSCR stands as a model for genetic disorders with complex patterns of inheritance. Isolated HSCR appears to be of complex nonmendelian inheritance with low sex-dependent penetrance and variable expression according to the length of the aganglionic segment, suggestive of the involvement of one or more genes with low penetrance. The development of surgical procedures decreased mortality and morbidity, which allowed the emergence of familial cases. HSCR occurs as an isolated trait in 70% of patients, is associated with chromosomal anomaly in 12% of cases, and occurs with additional congenital anomalies in 18% of cases (summary by Amiel et al., 2008).|OMIM|N|
C0019571|Pili gemini defines a situation where the papilla's tip of a hair follicle splits during the anagen phase and consequently grows two hair shafts emerging through a single pilary canal. A papilla tip that divides in several tips will produce several hair shafts, a situation named pili multigemini. Pili gemini or multigemini can occur in each type of hair.|ORDO|N|
C0019572|Abnormally increased hair growth referring to a male pattern of body hair (androgenic hair).|HPO|N|
C0019575|An disease or disorder caused by infection with Hirudinea.|MONDO|N|
C0019613|Distinctive neoplastic disorders of histiocytes. Included are malignant neoplasms of MACROPHAGES and DENDRITIC CELLS.|MSH|N|
C0019618|An excessive number of histiocytes (tissue macrophages).|HPO|N|
C0019621|Langerhans cell histiocytosis (LCH) is a rare disorder characterized by the dysregulated proliferation of Langerhans cells and subsequent organ infiltration. Clinical manifestations range from a spontaneously healing isolated osteolytic lesion to a lymphoma-like syndrome with fatal multiorgan failure, in the absence of any cellular evidence of malignancy. Although the disease can present at any age, the peak age at diagnosis is between 1 and 3 years (summary by Arico et al., 1999).
Egeler and D'Angio (1995) presented a classification of histiocytosis syndromes in children: class I, Langerhans cell histiocytosis (LCH); class II, histiocytosis of mononuclear macrophages other than Langerhans cells, including familial hemophagocytic lymphohistiocytosis (267700); and class III, malignant histiocytic disorders, including histiocytic lymphoma.|OMIM|N|
C0019623|An antiquated term referring to cases of systemic non-Hodgkin lymphomas which are composed of large, atypical neoplastic lymphoid cells and cases of hemophagocytic syndromes. In the past, cases of anaplastic large cells lymphoma were called malignant histiocytosis.|NCI|N|
C0019624|Group of disorders which feature accumulations of active HISTIOCYTES and LYMPHOCYTES, but where the histiocytes are not LANGERHANS CELLS. The group includes HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS; SINUS HISTIOCYTOSIS; xanthogranuloma; reticulohistiocytoma; juvenile XANTHOGRANULOMA; xanthoma disseminatum; as well as the lipid storage diseases (SEA-BLUE HISTIOCYTE SYNDROME; and NIEMANN-PICK DISEASES).|MONDO|N|
C0019625|A rare non-Langerhans cell histiocytosis characterized by infiltration of lymph nodes or extranodal tissues by non-malignant histiocytes displaying emperipolesis, a non-destructive phagocytosis of lymphocytes or erythrocytes. Most typical presentation is as a massive cervical lymphadenopathy in adolescents and young adults. Most frequent sites of extranodal disease are skin, soft tissue, bones, paranasal sinuses, orbit, salivary glands, and central nervous system. Symptoms are related to mass effect in the affected organs.|ORDO|N|
C0019655|Histoplasmosis is caused by the fungus Histoplasma capsulatum and is consider to be an opportunistic infection in immunosuppressed persons.|HPO|N|
C0019681|A personality disorder characterized by shallow and labile affectivity, self-dramatization, theatricality, exaggerated expression of emotions, suggestibility, egocentricity, self-indulgence, lack of consideration for others, easily hurt feelings, and continuous seeking for appreciation, excitement and attention.|HPO|N|
C0019693|An infection caused by the human immunodeficiency virus.|NCI|N|
C0019825|Hoarseness refers to a change in the pitch or quality of the voice, with the voice sounding weak, very breathy, scratchy, or husky.|HPO|N|
C0019829|Classic Hodgkin lymphoma is a lymph node cancer of germinal center B-cell origin. Hodgkin lymphoma tumors consist of a minority of malignant cells, known as 'Reed-Sternberg' (RS) cells, mixed with reactive lymphocytes and other benign inflammatory cells. A defining feature of RS cells is the presence of 2 nuclei (summary by Salipante et al., 2009).|OMIM|N|
C0019841|An acute, highly contagious disease affecting swine of all ages and caused by the CLASSICAL SWINE FEVER VIRUS. It has a sudden onset with high morbidity and mortality.|MSH|N|
C0019857|Childbirth taking place in the home.|MSH|N|
C0019880|Homocystinuria is an inherited disorder in which the body is unable to process certain building blocks of proteins (amino acids) properly. \n\nThe most common form of homocystinuria, called classic homocystinuria, is characterized by tall stature, nearsightedness (myopia), dislocation of the lens at the front of the eye, a higher risk of blood clotting disorders, and brittle bones that are prone to fracture (osteoporosis) or other skeletal abnormalities. Some affected individuals also have developmental delay and learning problems.\n\nThe signs and symptoms of homocystinuria typically develop during childhood, although some mildly affected people may not show signs and symptoms until adulthood.\n\nLess common forms of homocystinuria can cause intellectual disability, slower growth and weight gain (failure to thrive), seizures, and problems with movement. They can also cause and a blood disorder called megaloblastic anemia, which occurs when a person has a low number of red blood cells (anemia), and the remaining red blood cells are larger than normal (megaloblastic).|MedlinePlus Genetics|N|
C0019911|An infection that is caused by hookworms.|NCI|N|
C0019917|An acute purulent infection of the sebaceous glands of Zeis at the base of the eyelashes, of the apocrine sweat glands of Moll or the meibomian sebacious glands often caused by staphylococcus infections. Hordeola can either occur as Hordeola externa affecting the sebaceous glands of Zeis or the apocrine sweat glands of Moll or as Hordeola interna affecting the meibomian sebacious glands. In contrast to chalazia, hordeola are extremely painful and can cause extreme local swelling.|HPO|N|
C0019919|Hordeola externa are acute purulent infections affecting the sebaceous glands of Zeis or the apocrine sweat glands of Moll, often caused by staphylococcus infections. In contrast to chalazia, hordeola are extremely painfull and can cause extreme local swelling.|HPO|N|
C0019937|An abnormality resulting from a lesion of the sympathetic nervous system characterized by a combination of unilateral ptosis, miosis, and often ipsilateral hypohidrosis and conjunctival injection.|HPO|N|
C0019940|Diseases of domestic and wild horses of the species Equus caballus.|MSH|N|
C0020033|The immune responses of a host to a graft. A specific response is GRAFT REJECTION.|MSH|N|
C0020039|Persistent or frequent feelings of anger; anger or irritability in response to minor slights and insults.|HPO|N|
C0020058|Howell-Jolly bodies are small, intra-erythrocytic remnants of erythrocyte nuclei. These inclusions are solitary in each erythrocyte and strongly basophilic. These are often confused with overlying platelets, but can be distinguished by the presence of a halo around overlying platelets.|HPO|N|
C0020071|SPTLC1-related hereditary sensory neuropathy (HSN) is an axonal form of hereditary motor and sensory neuropathy distinguished by prominent early sensory loss and later positive sensory phenomena including dysesthesia and characteristic "lightning" or "shooting" pains. Loss of sensation can lead to painless injuries, which, if unrecognized, result in slow wound healing and subsequent osteomyelitis requiring distal amputations. Motor involvement is present in all advanced cases and can be severe. After age 20 years, the distal wasting and weakness may involve proximal muscles, possibly leading to wheelchair dependency by the seventh or eighth decade. Sensorineural hearing loss is variable.|GeneReviews|N|
C0020072|A rare hereditary sensory and autonomic neuropathy characterized by profound and universal sensory loss involving large and small fiber nerves.|ORPHANET|N|
C0020074|NTRK1 congenital insensitivity to pain with anhidrosis (NTRK1-CIPA) is characterized by insensitivity to pain, anhidrosis (the inability to sweat), and intellectual disability. The ability to sense all pain (including visceral pain) is absent, resulting in repeated injuries including: oral self-mutilation (biting of tongue, lips, and buccal mucosa); biting of fingertips; bruising, scarring, and infection of the skin; multiple bone fractures (many of which fail to heal properly); and recurrent joint dislocations resulting in joint deformity. Sense of touch, vibration, and position are normal. Anhidrosis predisposes to recurrent febrile episodes that are often the initial manifestation of NTRK1-CIPA. Hypothermia in cold environments also occurs. Intellectual disability of varying degree is observed in most affected individuals; hyperactivity and emotional lability are common.|GeneReviews|N|
C0020075|Hereditary sensory and autonomic neuropathy type V (HSAN5) is a condition that primarily affects the sensory nerve cells (sensory neurons), which transmit information about sensations such as pain, temperature, and touch. These sensations are impaired in people with HSAN5.\n\nThe signs and symptoms of HSAN5 appear early, usually at birth or during infancy. People with HSAN5 lose the ability to feel pain, heat, and cold. Deep pain perception, the feeling of pain from injuries to bones, ligaments, or muscles, is especially affected in people with HSAN5. Because of the inability to feel deep pain, affected individuals suffer repeated severe injuries such as bone fractures and joint injuries that go unnoticed. Repeated trauma can lead to a condition called Charcot joints, in which the bones and tissue surrounding joints are destroyed.|MedlinePlus Genetics|N|
C0020091|Infections caused by the HTLV or BLV deltaretroviruses. They include human T-cell leukemia-lymphoma (LEUKEMIA-LYMPHOMA, T-CELL, ACUTE, HTLV-I-ASSOCIATED).|MONDO|N|
C0020097|An infection that is caused by HTLV-1.|NCI|N|
C0020102|Diseases caused by HUMAN T-LYMPHOTROPIC VIRUS 2.|MSH|N|
C0020175|The desire for FOOD generated by a sensation arising from the lack of food in the STOMACH.|MSH|N|
C0020179|Huntington disease (HD) is a progressive disorder of motor, cognitive, and psychiatric disturbances. The mean age of onset is 35 to 44 years, and the median survival time is 15 to 18 years after onset.|GeneReviews|N|
C0020186|An incisor with a half-moon shape incisal edge.|HPO|N|
C0020192|A respiratory distress syndrome in newborn infants, usually premature infants with insufficient PULMONARY SURFACTANTS. The disease is characterized by the formation of a HYALINE-like membrane lining the terminal respiratory airspaces (PULMONARY ALVEOLI) and subsequent collapse of the lung (PULMONARY ATELECTASIS).|MSH|N|
C0020217|Hydatidiform mole (HM) is an aberrant human pregnancy with absence of, or abnormal embryonic development, hydropic degeneration of chorionic villi, and excessive proliferation of the trophoblast.|HPO|N|
C0020224|The presence of excess amniotic fluid in the uterus during pregnancy.|HPO|N|
C0020225|A defect of development of the brain characterized by replacement of greater portions of the cerebral hemispheres and the corpus striatum by cerebrospinal fluid (CSF) and glial tissue.|HPO|N|
C0020241|In response to the spring sun distinct inflamed reddened skin develops on the ears, nose, cheeks, fingers, backs of the hands, and the lower arms, on which blisters with serous or hemorrhagic content develop. These dry out with the formation of a blackish scab. After shedding of the scab, depressed, varioliform, often hypopigmented scars remain. In addition, hyper- and hypopigmentation are present together, resulting in a polymorphous skin presentation.|HPO|N|
C0020255|Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation.|HPO|N|
C0020256|A rare central nervous system malformation characterized by abnormally enlarged cerebral ventricles due to impaired cerebrospinal fluid circulation. It arises in utero and can be either acquired or inherited. The severity of the resulting brain damage depends on the duration and extent of ventriculomegaly.|ORDO|N|
C0020258|Normal-pressure hydrocephalus-1 (HYDNP1) is an autosomal dominant neurologic disorder characterized by the clinical triad of slowly progressive gait instability, urinary incontinence, and cognitive decline associated with ventricular enlargement on brain imaging with normal pressure of the cerebrospinal fluid (CSF). The onset of symptoms is usually in late adulthood; the symptoms are responsive to shunting. The disorder has been associated with recurrent respiratory infections and possible infertility issues, but the latter has not been confirmed (summary by Takahashi et al., 2011 and Morimoto et al., 2019).|OMIM|N|
C0020295|Severe distention of the kidney with dilation of the renal pelvis and calices.|HPO|N|
C0020302|Glaucoma, the cause of which is present at birth.|NCI|N|
C0020303|A collection of fluid and gas within the pleural cavity. (Dorland, 27th ed)|MSH|N|
C0020305|The abnormal accumulation of fluid in two or more fetal compartments, including ascites, pleural effusion, pericardial effusion, and skin edema.|HPO|N|
C0020312|A type of pleural effusion with a transudate (extravascular fluid with low protein content and a low specific gravity). Pleural effusions can be classified as transudates or exudates based on Light's criteria, which classify an effusion as exudate if one or more of the following are present|HPO|N|
C0020413|Hymenolepiasis is a cosmopolitan parasitosis caused by a hymenolepidid tapeworm infection, most commonly <i>Hymenolepis nana</i>, that is reported worldwide but particularly in tropical and subtropical countries and which is usually asymptomatic but in severe cases can also manifest with nausea, abdominal pain, anorexia, diarrhea and overall weakness.|ORDO|N|
C0020428|Overproduction of the mineralocorticoid aldosterone by the adrenal cortex.|HPO|N|
C0020429|Abnormally increased pain sense.|NCI|N|
C0020435|An inherited disorder affecting the metabolism of bilirubin. It results in increased levels of bilirubin in the blood. Representative examples of this condition include Gilbert syndrome and Crigler-Najjar syndrome.|NCI|N|
C0020437|An abnormally increased calcium concentration in the blood.|HPO|N|
C0020438|Abnormally high level of calcium in the urine.|NCI|N|
C0020440|Abnormally elevated blood carbon dioxide (CO2) level.|HPO|N|
C0020441|Excess of cementum on the tooth root surface.|HPO|N|
C0020443|An increased concentration of cholesterol in the blood.|HPO|N|
C0020445|Familial hypercholesterolemia (FH) is characterized by significantly elevated low-density lipoprotein cholesterol (LDL-C) that leads to atherosclerotic plaque deposition in the coronary arteries and proximal aorta at an early age and increases the risk of premature cardiovascular events such as angina and myocardial infarction; stroke occurs more rarely. Xanthomas (cholesterol deposits in tendons) may be visible in the Achilles tendons or tendons of the hands and worsen with age as a result of extremely high cholesterol levels. Xanthelasmas (yellowish, waxy deposits) can occur around the eyelids. Individuals with FH may develop corneal arcus (white, gray, or blue opaque ring in the corneal margin as a result of cholesterol deposition) at a younger age than those without FH. Individuals with a more severe phenotype, often as a result of biallelic variants, can present with very significant elevations in LDL-C (>500 mg/dL), early-onset coronary artery disease (CAD; presenting as early as childhood in some), and calcific aortic valve disease.|GeneReviews|N|
C0020450|Excessive vomiting in early pregnancy, leading to the loss of 5% or more of body weight.|HPO|N|
C0020452|The presence of an increased amount of blood in a part or organ; engorgement.|NCI|N|
C0020453|Increased sensitivity to stimulation, excluding the special senses, which may refer to various modes of cutaneous sensibility including touch and thermal sensation without pain, as well as to pain.|HPO|N|
C0020455|A laboratory test result indicating abnormally high concentrations of gamma globulins in the blood.|NCI|N|
C0020456|An increased concentration of glucose in the blood.|HPO|N|
C0020457|A serious complication of TYPE 2 DIABETES MELLITUS. It is characterized by extreme HYPERGLYCEMIA; DEHYDRATION; serum hyperosmolarity; and depressed consciousness leading to COMA in the absence of KETOSIS and ACIDOSIS.|MSH|N|
C0020458|Abnormal excessive perspiration (sweating) despite the lack of appropriate stimuli like hot and humid weather.|HPO|N|
C0020459|An increased concentration of insulin in the blood.|HPO|N|
C0020461|An abnormally increased potassium concentration in the blood.|HPO|N|
C0020473|An elevated lipid concentration in the blood.|HPO|N|
C0020474|Familial combined hyperlipidemia (FCHL) is characterized by fluctuations in serum lipid concentrations and may present as mixed hyperlipidemia, isolated hypercholesterolemia, hypertriglyceridemia, or as a normal serum lipid profile in combination with abnormally elevated levels of apolipoprotein B (APOB; 107730). Patients with FCHL are at increased risk of cardiovascular disease and mortality and have a high frequency of comorbidity with other metabolic conditions such as type 2 diabetes, nonalcoholic fatty liver disease, steatohepatitis, and the metabolic syndrome (summary by Bello-Chavolla et al., 2018).
Goldstein et al. (1973) gave the designation 'familial combined hyperlipidemia' to the most common genetic form of hyperlipidemia identified in a study of survivors of myocardial infarction. Affected persons characteristically showed elevation of both cholesterol and triglycerides in the blood. The combined disorder was shown to be distinct from familial hypercholesterolemia (143890) and from familial hypertriglyceridemia (145750) for the following reasons: (1) lipid distributions in relatives were unique; (2) unlike familial hypercholesterolemia, children of affected persons did not express hypercholesterolemia; and (3) informative matings suggested that variable expression of a single gene rather than segregation for 2 separate genes was responsible. This disorder leads to elevated levels of VLDL, LDL, or both in plasma. From time to time the pattern can change in a given person. Unlike familial hypercholesterolemia, hyperlipidemia appears in only 10 to 20% of patients in childhood, usually in the form of hypertriglyceridemia. Xanthomas are rare. Increased production of VLDL may be a common underlying metabolic characteristic in this disorder, which may be heterogeneous. The disorder may be 5 times as frequent as familial hypercholesterolemia, occurring in 1% of the U.S. population.
Genetic Heterogeneity of Susceptibility to Familial Combined Hyperlipidemia
Also see FCHL1 (602491), associated with variation in the USF1 gene (191523) on chromosome 1q23, and FCHL2 (604499), mapped to chromosome 11.|OMIM|N|
C0020476|An abnormal increase in the level of lipoprotein cholesterol in the blood.|HPO|N|
C0020479|Hyperlipoproteinemia type III, also called dysbetalipoproteinemia, is characterized by hyperlipidemia due to accumulation of remnants of the triglyceride (TG)-rich lipoproteins (TGRL), very low density lipoproteins (VLDL), and chylomicrons (CM), in response to dysfunctional genetic variants of apolipoprotein E or absence of apoE (summary by Blum, 2016).|OMIM|N|
C0020480|On a regular diet patients with type IV hyperlipoproteinemia demonstrate increased plasma VLDL. Plasma triglycerides are persistently increased, while plasma cholesterol and phospholipids are usually within normal limits. Precocious atherosclerosis, abnormal glucose tolerance, and atheroeruptive xanthoma may occur. The disorder is undoubtedly heterogeneous and the phenotype strongly influenced by environmental factors, particularly carbohydrate and ethanol consumption.|OMIM|N|
C0020481|A severe type of hyperlipidemia, sometimes familial, that is characterized by the elevation of both plasma chylomicrons and triglycerides contained in very-low-density lipoproteins. Type V hyperlipoproteinemia is often associated with diabetes mellitus and is not caused by reduced lipoprotein lipase activity as in hyperlipoproteinemia type I.|MONDO|N|
C0020488|An abnormally increased sodium concentration in the blood.|HPO|N|
C0020490|An abnormality of refraction characterized by the ability to see objects in the distance clearly, while objects nearby appear blurry.|HPO|N|
C0020492|Excessive growth or abnormal thickening of bone tissue.|HPO|N|
C0020494|Bony overgrowth of the internal (endosteal) surface of the frontal bone.|HPO|N|
C0020496|An increase in the magnitude or amount of ossification of the skull.|HPO|N|
C0020497|Caffey disease is characterized by massive subperiosteal new bone formation (usually involving the diaphyses of the long bones as well as the ribs, mandible, scapulae, and clavicles) typically associated with fever, joint swelling, and pain in children, with onset between birth and five months and spontaneous resolution by age two years. Episodes of recurrence of the manifestations of Caffey disease have been reported multiple times in individuals with the classic infantile presentation. Limited follow-up information suggests that adults who had Caffey disease in childhood may manifest joint laxity, skin hyperextensibility, hernias, short stature, and an increased risk for bone fractures and/or deformities.|GeneReviews|N|
C0020498|A rare dysostosis with predominant vertebral involvement characterized by paraspinal ligament ossification (most pronounced in the lower thoracic region), osteophytosis, marginal sacroiliac joint sclerosis, and punctate hyperkeratosis on the soles and palms. Patients may be asymptomatic or present mild to moderate back pain. There have been no further descriptions in the literature since 1969.|ORDO|N|
C0020499|A rare, benign rheumatologic disorder or syndrome characterized by hyperostosis and soft tissue ossification between the clavicles and the anterior part of the upper ribs. It is often associated with the dermatologic disorder palmoplantar pustulosis, particularly in Japan. Careful diagnosis is required to distinguish it from psoriatic arthritis, OSTEITIS DEFORMANS, and other diseases. Spondylitis of pustulosis palmaris et plantaris is one of the possible causes; also, evidence suggests one origin may be bone infection. Bone imaging is especially useful for diagnosis. It was originally described by Sonozaki in 1974.|MSH|N|
C0020500|Primary hyperoxaluria is a rare condition characterized by recurrent kidney and bladder stones. The condition often results in end stage renal disease (ESRD), which is a life-threatening condition that prevents the kidneys from filtering fluids and waste products from the body effectively.\n\nPrimary hyperoxaluria results from the overproduction of a substance called oxalate. Oxalate is filtered through the kidneys and excreted as a waste product in urine, leading to abnormally high levels of this substance in urine (hyperoxaluria). During its excretion, oxalate can combine with calcium to form calcium oxalate, a hard compound that is the main component of kidney and bladder stones. Deposits of calcium oxalate can damage the kidneys and other organs and lead to blood in the urine (hematuria), urinary tract infections, kidney damage, ESRD, and injury to other organs. Over time, kidney function decreases such that the kidneys can no longer excrete as much oxalate as they receive. As a result oxalate levels in the blood rise, and the substance gets deposited in tissues throughout the body (systemic oxalosis), particularly in bones and the walls of blood vessels. Oxalosis in bones can cause fractures.\n\nThere are three types of primary hyperoxaluria that differ in their severity and genetic cause. In primary hyperoxaluria type 1, kidney stones typically begin to appear anytime from childhood to early adulthood, and ESRD can develop at any age. Primary hyperoxaluria type 2 is similar to type 1, but ESRD develops later in life. In primary hyperoxaluria type 3, affected individuals often develop kidney stones in early childhood, but few cases of this type have been described so additional signs and symptoms of this type are unclear.|MedlinePlus Genetics|N|
C0020501|There are three types of primary hyperoxaluria that differ in their severity and genetic cause. In primary hyperoxaluria type 1, kidney stones typically begin to appear anytime from childhood to early adulthood, and ESRD can develop at any age. Primary hyperoxaluria type 2 is similar to type 1, but ESRD develops later in life. In primary hyperoxaluria type 3, affected individuals often develop kidney stones in early childhood, but few cases of this type have been described so additional signs and symptoms of this type are unclear.\n\nPrimary hyperoxaluria results from the overproduction of a substance called oxalate. Oxalate is filtered through the kidneys and excreted as a waste product in urine, leading to abnormally high levels of this substance in urine (hyperoxaluria). During its excretion, oxalate can combine with calcium to form calcium oxalate, a hard compound that is the main component of kidney and bladder stones. Deposits of calcium oxalate can damage the kidneys and other organs and lead to blood in the urine (hematuria), urinary tract infections, kidney damage, ESRD, and injury to other organs. Over time, kidney function decreases such that the kidneys can no longer excrete as much oxalate as they receive. As a result oxalate levels in the blood rise, and the substance gets deposited in tissues throughout the body (systemic oxalosis), particularly in bones and the walls of blood vessels. Oxalosis in bones can cause fractures.\n\nPrimary hyperoxaluria is a rare condition characterized by recurrent kidney and bladder stones. The condition often results in end stage renal disease (ESRD), which is a life-threatening condition that prevents the kidneys from filtering fluids and waste products from the body effectively.|MedlinePlus Genetics|N|
C0020502|Excessive production of parathyroid hormone (PTH) by the parathyroid glands.|HPO|N|
C0020503|Secondary hyperparathyroidism refers to the production of higher than normal levels of parathyroid hormone in the presence of hypocalcemia.|HPO|N|
C0020505|A neurological anomaly with gross overeating associated with an abnormally strong desire or need to eat.|HPO|N|
C0020506|Hypersecretion of one or more pituitary hormones. This can occur in conditions in which deficiency in the target organ leads to decreased hormonal feedback, or as a primary condition most usually in connection with a pituitary adenoma.|HPO|N|
C0020507|An abnormal increase in the number of cells in an organ or a tissue with consequent enlargement.|NCI|N|
C0020514|Hyperprolactinemia unrelated to pregnancy occurs in approximately 0.1 to 0.3% of the general population and may result in infertility, hypogonadism, and galactorrhea. Such nonphysiologic hyperprolactinemia is caused mainly by drugs or by tumors in the anterior pituitary gland, primarily prolactinomas (see 102200). However, 10 to 60% of patients with hyperprolactinemia who undergo MRI have normal findings (summary by Newey et al., 2013).
Patients with hyperprolactinemia may also experience agalactia (Kobayashi et al., 2018).|OMIM|N|
C0020517|An allergy is an immune response or reaction to substances that are usually not harmful.|HPO|N|
C0020522|Delayed hypersensitivity reaction (DTH) - type IV reaction, an inflammatory response that develops 24 to 72 hours after exposure to an antigen that the immune system recognizes as foreign. DTH is mediated by T cells rather than by antibodies. Th1 cells produce interferon gamma, interleukin (IL)-2, and tumor necrosis factor-beta and promote a cell-mediated immune response.|NCI|N|
C0020523|Immediate hypersensitivity reaction - type I reaction, involves immunoglobulin E (IgE)-mediated release of chemical mediators from mast cells and basophils. Th2 cells produce IL-4 and IL-13, which then act on B cells to promote the production of antigen-specific IgE. Reexposure to the antigen can then result in the antigen binding to and cross-linking the bound IgE antibodies on the mast cells and basophils. This causes the release of preformed mediators (histamine, tryptase, tryptase, chemotactic factors), newly synthesized mediators (leukotrienes, prostaglandin, thromboxane, platelet-activating factor, adenosine, bradykinin), and cytokines from these cells that results in structural and functional changes to the affected tissue.|NCI|N|
C0020524|Disorders characterized by hypersomnolence during normal waking hours that may impair cognitive functioning. Subtypes include primary hypersomnia disorders (e.g., IDIOPATHIC HYPERSOMNOLENCE; NARCOLEPSY; and KLEINE-LEVIN SYNDROME) and secondary hypersomnia disorders where excessive somnolence can be attributed to a known cause (e.g., drug affect, MENTAL DISORDERS, and SLEEP APNEA SYNDROME). (From J Neurol Sci 1998 Jan 8;153(2):192-202; Thorpy, Principles and Practice of Sleep Medicine, 2nd ed, p320)|MSH|N|
C0020532|A malfunctioning of the spleen in which it prematurely destroys red blood cells.|HPO|N|
C0020534|Although hypertelorism means an excessive distance between any paired organs (e.g., the nipples), the use of the word has come to be confined to ocular hypertelorism. Hypertelorism occurs as an isolated feature and is also a feature of many syndromes, e.g., Opitz G syndrome (see 300000), Greig cephalopolysyndactyly (175700), and Noonan syndrome (163950) (summary by Cohen et al., 1995).|OMIM|N|
C0020538|The presence of chronic increased pressure in the systemic arterial system.|HPO|N|
C0020540|Severe hypertension that is characterized by rapid onset of extremely high blood pressure.|NCI|N|
C0020541|Increased pressure in the portal vein.|HPO|N|
C0020542|Increased pressure within the pulmonary circulation due to lung or heart disorder.|NCI|N|
C0020544|Hypertension caused by narrowing or occlusion of the renal arteries.|NCI|N|
C0020545|The presence of hypertension related to stenosis of the renal artery.|HPO|N|
C0020546|A severe, acute increase in blood pressure that may result in stroke or myocardial ischemia.|NCI|N|
C0020550|An abnormality of thyroid physiology characterized by excessive secretion of the thyroid hormones thyroxine (i.e., T4) and/or 3,3',5-triiodo-L-thyronine zwitterion (i.e., triiodothyronine or T3).|HPO|N|
C0020551|Supranormal concentration of thyroxine in the blood.|NCI|N|
C0020555|Hypertrichosis is increased hair growth that is abnormal in quantity or location.|HPO|N|
C0020564|Abnormal enlargement of a body part or organ.|NCI|N|
C0020565|The presence of hypertrophy of the breast.|HPO|N|
C0020575|A type of strabismus characterized by permanent upward deviation of the visual axis of one eye.|HPO|N|
C0020578|Hyperventilation refers to an increased pulmonary ventilation rate that is faster than necessary for the exchange of gases. Hyperventilation can result from increased frequency of breathing, an increased tidal volume, or both, and leads to an excess intake of oxygen and the blowing off of carbon dioxide.|HPO|N|
C0020579|A symptom complex resulting from ingesting excessive amounts of vitamin A.|MONDO|N|
C0020580|Decreased ability to perceive touch.|HPO|N|
C0020581|Bleeding in the anterior chamber of the eye.|HPO|N|
C0020594|A disorder characterized by a recurrent or persistent lack of desire for sexual activity. The lack of sexual desire is not attributable to another psychiatric disorder or to the physiological effects of substance use or a general medical condition.|NCI|N|
C0020595|Abnormally low levels of aldosterone in the blood.|NCI|N|
C0020597|Hypobetalipoproteinemia (HBL) constitutes a group of lipoprotein metabolism disorders that are characterized by permanently low levels (below the 5th percentile) of apolipoprotein B and LDL cholesterol.|ORDO|N|
C0020598|An abnormally decreased calcium concentration in the blood.|HPO|N|
C0020599|An abnormally decreased calcium concentration in the urine.|HPO|N|
C0020604|A somatoform disorder in which an individual is preoccupied with having a serious illness despite not having been given a corroborating diagnosis.|NCI|N|
C0020607|Infestation with larvae of the genus Hypoderma, the warble fly.|MONDO|N|
C0020608|Tooth agenesis in some form is a common human anomaly that affects approximately 20% of the population. Although tooth agenesis is associated with numerous syndromes, several case reports describe nonsyndromic forms that are either sporadic or familial in nature, as reviewed by Gorlin et al. (1990). The incidence of familial tooth agenesis varies with each class of teeth. Most commonly affected are third molars (wisdom teeth), followed by either upper lateral incisors or lower second premolars; agenesis involving first and second molars is very rare. Also see 114600 and 302400.
Selective tooth agenesis without associated systemic disorders has sometimes been divided into 2 types: oligodontia, defined as agenesis of 6 or more permanent teeth, and hypodontia, defined as agenesis of less than 6 teeth. The number in both cases does not include absence of third molars (wisdom teeth). Faulty use of the terms, however, have confounded their use. The term 'partial anodontia' is obsolete (Salinas, 1978).
Genetic Heterogeneity of Selective Tooth Agenesis
Other forms of selective tooth agenesis include STHAG2 (602639), mapped to chromosome 16q12; STHAG3 (604625), caused by mutation in the PAX9 gene (167416) on chromosome 14q12; STHAG4 (150400), caused by mutation in the WNT10A gene (606268) on chromosome 2q35; STHAG5 (610926), mapped to chromosome 10q11; STHAG7 (616724), caused by mutation in the LRP6 gene (603507) on chromosome 12p13; STHAG8 (617073), caused by mutation in the WNT10B gene (601906) on chromosome 12q13; STHAG9 (617275), caused by mutation in the GREM2 gene (608832) on chromosome 1q43; STHAG10 (620173), caused by mutation in the TSPEAR gene (612920) on chromosome 21q22; and STHAGX1 (313500), caused by mutation in the EDA gene (300451) on chromosome Xq13.
A type of selective tooth agenesis that was formerly designated STHAG6 has been incorporated into the dental anomalies and short stature syndrome (DASS; 601216).
Of 34 unrelated patients with nonsyndromic tooth agenesis, van den Boogaard et al. (2012) found that 56% (19 patients) had mutations in the WNT10A gene (STHAG4), whereas only 3% and 9% had mutations in the MSX1 (STHAG1) and PAX9 (STHAG3) genes, respectively. The authors concluded that WNT10A is a major gene in the etiology of isolated hypodontia.
Genotype-Phenotype Correlations
Yu et al. (2016) observed that the most frequently missing permanent teeth in WNT10B-associated oligodontia were the lateral incisors (83.3%), whereas premolars were missing only 51.4% of the time, which they noted was a pattern 'clearly different' from the oligodontia patterns resulting from WNT10A mutations. They also stated that the selective pattern in WNT10B mutants was different from that associated with mutations in other genes, such as MSX1, in which second premolars are missing, and PAX9, in which there is agenesis of molars.|OMIM|N|
C0020610|Decreased secretion of breast milk.|NCI|N|
C0020615|A decreased concentration of glucose in the blood.|HPO|N|
C0020617|Coma induced by low blood sugar.|HPO|N|
C0020619|A decreased functionality of the gonad.|HPO|N|
C0020620|Abnormally diminished capacity to sweat.|HPO|N|
C0020621|An abnormally decreased potassium concentration in the blood.|HPO|N|
C0020623|An abnormal decrease in the level of lipoprotein cholesterol in the blood.|HPO|N|
C0020624|Decreased menstrual blood flow.|NCI|N|
C0020625|An abnormally decreased sodium concentration in the blood.|HPO|N|
C0020626|A condition caused by a deficiency of parathyroid hormone characterized by hypocalcemia and hyperphosphatemia.|HPO|N|
C0020627|A benign or malignant neoplasm that affects the hypopharynx.|NCI|N|
C0020630|Hypophosphatasia is characterized by defective mineralization of growing or remodeling bone, with or without root-intact tooth loss, in the presence of low activity of serum and bone alkaline phosphatase. Clinical features range from stillbirth without mineralized bone at the severe end to pathologic fractures of the lower extremities in later adulthood at the mild end. While the disease spectrum is a continuum, seven clinical forms of hypophosphatasia are usually recognized based on age at diagnosis and severity of features: Perinatal (severe): characterized by pulmonary insufficiency and hypercalcemia. Perinatal (benign): prenatal skeletal manifestations that slowly resolve into one of the milder forms. Infantile: onset between birth and age six months of clinical features of rickets without elevated serum alkaline phosphatase activity. Severe childhood (juvenile): variable presenting features progressing to rickets. Mild childhood: low bone mineral density for age, increased risk of fracture, and premature loss of primary teeth with intact roots. Adult: characterized by stress fractures and pseudofractures of the lower extremities in middle age, sometimes associated with early loss of adult dentition. Odontohypophosphatasia: characterized by premature exfoliation of primary teeth and/or severe dental caries without skeletal manifestations.|GeneReviews|N|
C0020631|An inherited condition of abnormally low serum levels of PHOSPHATES (below 1 mg/liter) which can occur in a number of genetic diseases with defective reabsorption of inorganic phosphorus by the PROXIMAL RENAL TUBULES. This leads to phosphaturia, HYPOPHOSPHATEMIA, and disturbances of cellular and organ functions such as those in X-LINKED HYPOPHOSPHATEMIC RICKETS; OSTEOMALACIA; and FANCONI SYNDROME.|MSH|N|
C0020635|A condition of diminution or cessation of secretion of one or more hormones from the anterior pituitary gland. This may result from surgical or radiation ablation, non-secretory pituitary neoplasms, metastatic tumors, infarction, pituitary apoplexy, infiltrative or granulomatous processes, and other conditions.|NCI|N|
C0020641|Presence of pus (appears as a white fluid) producing a fluid level in the inferior part of the anterior chamber.|HPO|N|
C0020649|Low Blood Pressure, vascular hypotension.|HPO|N|
C0020651|A form of hypotension characterized by a sudden fall in blood pressure that occurs when a person assumes a standing position.|HPO|N|
C0020655|Neoplastic, inflammatory, infectious, and other diseases of the hypothalamus. Clinical manifestations include appetite disorders; autonomic nervous system diseases; sleep disorders; behavioral symptoms related to dysfunction of the limbic system; and neuroendocrine disorders.|MONDO|N|
C0020659|A primary or metastatic neoplasm that affects the hypothalamus.|NCI|N|
C0020672|Reduced body temperature due to failed thermoregulation.|HPO|N|
C0020676|Deficiency of thyroid hormone.|HPO|N|
C0020678|A congenital condition, usually due to genetic aberrations, that is characterized by a lack of hair growth on the head and/or body.|MONDO|N|
C0020683|A state of shock characterized by decreased circulating blood volume in relation to total vascular capacity. This type of shock is characterized by a reduction of diastolic filling pressures.|HPO|N|
C0020701|A psychological state of emotional lability characterized by irrational behavior. This is a colloquial term that is not commonly used in clinical medicine.|NCI|N|
C0020703|A disorder characterized by sudden, unexpected travel away from one''s home or place of work accompanied by an inability to recall one''s past; the individual is confused about his or her personal identity and may assume a new identity.|NCI|N|
C0020717|A blood group related both to the ABO and P systems that includes several different antigens found in most people on erythrocytes, in milk, and in saliva. The antibodies react only at low temperatures.|MSH|N|
C0020725|An inherited lysosomal storage disease characterized by the presence of dense intracytoplasmic inclusions in mesenchymal cells, especially fibroblasts. Signs and symptoms include developmental delay, psychomotor deterioration, and growth failure.|NCI|N|
C0020732|A disorder which is not a natural consequence or progression of any pre-existing disorder, resulting from a diagnostic procedure or any form of therapy that is not an intended or expected outcome of its use.|SNOMEDCT_US|N|
C0020757|An abnormality of the skin characterized the presence of excessive amounts of dry surface scales on the skin resulting from an abnormality of keratinization.|HPO|N|
C0020758|Autosomal recessive congenital ichthyosis (ARCI) encompasses several forms of nonsyndromic ichthyosis. Although most neonates with ARCI are collodion babies, the clinical presentation and severity of ARCI may vary significantly, ranging from harlequin ichthyosis, the most severe and often fatal form, to lamellar ichthyosis (LI) and (nonbullous) congenital ichthyosiform erythroderma (CIE). These phenotypes are now recognized to fall on a continuum; however, the phenotypic descriptions are clinically useful for clarification of prognosis and management. Infants with harlequin ichthyosis are usually born prematurely and are encased in thick, hard, armor-like plates of cornified skin that severely restrict movement. Life-threatening complications in the immediate postnatal period include respiratory distress, feeding problems, and systemic infection. Collodion babies are born with a taut, shiny, translucent or opaque membrane that encases the entire body and lasts for days to weeks. LI and CIE are seemingly distinct phenotypes: classic, severe LI with dark brown, plate-like scale with no erythroderma and CIE with finer whiter scale and underlying generalized redness of the skin. Affected individuals with severe involvement can have ectropion, eclabium, scarring alopecia involving the scalp and eyebrows, and palmar and plantar keratoderma. Besides these major forms of nonsyndromic ichthyosis, a few rare subtypes have been recognized, such as bathing suit ichthyosis, self-improving collodion ichthyosis, or ichthyosis-prematurity syndrome.|GeneReviews|N|
C0020796|IQ below 20.|PSY|N|
C0020807|Idiopathic pulmonary hemosiderosis is a respiratory disease due to repeated episodes of diffuse alveolar hemorrhage without any underlying apparent cause, most often in children. Anemia, cough, and pulmonary infiltrates on chest radiographs are found in majority of the patients.|ORDO|N|
C0020875|Pathological development in the ILEUM including the ILEOCECAL VALVE.|MSH|N|
C0020876|A benign or malignant neoplasm that affects the wall of the ileum. Representative examples include adenoma, carcinoma, and lymphoma.|NCI|N|
C0020877|Inflammation of the ileum.|HPO|N|
C0020893|The state of birth outside of wedlock. It may refer to the offspring or the parents.|MSH|N|
C0020899|Not able to read or write.|NCI|N|
C0020903|Perceptual experiences that involve misinterpretations or distortions of sensory stimuli.|HPO|N|
C0020951|Group of diseases mediated by the deposition of large soluble complexes of antigen and antibody with resultant damage to tissue. Besides serum sickness and the arthus reaction, evidence supports a pathogenic role for immune complexes in many other immune system diseases including glomerulonephritis, systemic lupus erythematosus (lupus erythematosus, systemic) and polyarteritis nodosa.|MONDO|N|
C0020963|An innate tolerance that prevents the body from attacking native proteins and tissue.|NCI|N|
C0020981|A rare T-cell non-Hodgkin lymphoma characterized by infiltration of lymph nodes by neoplastic cells of T follicular helper cell origin with a polymorphous inflammatory background including markedly increased follicular dendritic cells and EBV-positive B-cells, as well as prominent proliferation of high endothelial venules. The spleen, liver, skin, and bone marrow are also frequently involved. Patients typically present with generalized lymphadenopathy, hepatosplenomegaly, systemic symptoms, and polyclonal hypergammaglobulinemia. Pruritic skin rash, arthritis, pleural effusion, and ascites may also be observed. The condition is aggressive with generally poor prognosis.|ORDO|N|
C0021051|Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance.|HPO|N|
C0021053|A disorder resulting from an abnormality in the immune system.|NCI|N|
C0021070|Disorders characterized by abnormal proliferation of primary cells of the immune system or by excessive production of immunoglobulins.|MONDO|N|
C0021071|A type of HCD characterized by the production of incomplete monoclonal alpha-heavy chains without associated light chains. Alpha-HCD is considered to be a subtype of immunoproliferative small intestinal disease (IPSID). The clinical presentation includes chronic diarrhea with evidence of malabsorption.|ORDO|N|
C0021092|Blockage of the external auditory canal by a buildup of earwax.|HPO|N|
C0021099|A contagious bacterial cutaneous infection that affects children and is usually caused by Staphylococcus aureus. It usually presents in the face with honey colored scabs.|NCI|N|
C0021100|A rare, acquired, typically benign, bacterial infectious disease caused by <i>Staphylococcus aureus</i> characterized by large, fragile vesicles and flaccid bullae on an erythematous base, which evolve into moistened erosions with a thin, varnish-like crust, usually localized in intertriginous areas of the trunk and extremities (armpits, groins, between the fingers or toes, beneath the breasts). Although uncommon, systemic symptoms, such as fever, diarrhea, and weakness, may be associated.|ORDO|N|
C0021122|A category of behaviors that can be loosely defined as the failure to resist an impulsive act or behavior that may be harmful to self or others.|NCI|N|
C0021125|Acting on the spur of the moment in response to immediate stimuli; acting on a momentary basis without a plan or consideration of outcomes; having difficulty establishing or following plans; experiencing a sense of urgency and engaging in self-harming behavior when under emotional distress.|HPO|N|
C0021139|Inadequate responses to physical, social, and emotional demands; general ineptness and instability, despite absence of actual physical or mental deficit.|PSY|N|
C0021141|A state of increased circulating antidiuretic hormone despite hyponatremia and hypo-osmolality with normal or increased plasma volume.|HPO|N|
C0021148|Sexual intercourse between persons so closely related that they are forbidden by law to marry.|MSH|N|
C0021167|Involuntary passage of stool or urine from the body.|NCI|N|
C0021171|Incontinentia pigmenti (IP) is a disorder that affects the skin, hair, teeth, nails, eyes, and central nervous system; it occurs primarily in females and on occasion in males. Characteristic skin lesions evolve through four stages: I. Blistering (birth to age ~4 months). II. Wart-like rash (for several months). III. Swirling macular hyperpigmentation (age ~6 months into adulthood). IV. Linear hypopigmentation. Alopecia, hypodontia, abnormal tooth shape, and dystrophic nails are observed. Neovascularization of the retina, present in some individuals, predisposes to retinal detachment. Neurologic findings including seizures, intellectual disability, and developmental delays are occasionally seen.|GeneReviews|N|
C0021177|Elevated sexual desire.|HPO|N|
C0021192|A leprosy that is an early form of the disease which causes one to a few hypopigmented or erythematous macules.|MONDO|N|
C0021280|Disorders caused by nutritional imbalance, either overnutrition or undernutrition, occurring in infants ages 1 month to 24 months.|MSH|N|
C0021290|A non-neoplastic or neoplastic disorder which occurs during the neonatal period.|NCI|N|
C0021295|Diseases that occur in PREMATURE INFANTS.|MSH|N|
C0021296|An infant having a birth weight lower than expected for its gestational age.|MSH|N|
C0021308|A localized pathological necrosis of tissue resulting from obstruction of the blood supply usually by a thrombus, an embolus, or vascular torsion.|NCI|N|
C0021313|invasion and growth of microorganisms in the kidney; may be clinically inapparent or result in local cellular injury.|CSP|N|
C0021334|A herpesvirus infection of CATTLE characterized by INFLAMMATION and NECROSIS of the mucous membranes of the upper RESPIRATORY TRACT.|MSH|N|
C0021345|A clinical syndrome of fever, sore throat, fatigue, and lymphadenopathy caused by infection with the Epstein-Barr virus. Subsequent physical findings may include hepatomegaly, palatal petechiae, jaundice, uvular edema, and splenomegaly.|NCI|N|
C0021355|Inflammation of the anatomical structures of the outer ear and ear canal secondary to an infectious process. Bacterial etiology is most common, but fungal infection is also possible. Symptoms include erythema, edema, and pain.|NCI|N|
C0021359|Inability to conceive for at least one year after trying and having unprotected sex. Causes of female infertility include endometriosis, fallopian tubes obstruction, and polycystic ovary syndrome. Causes of male infertility include abnormal sperm production or function, blockage of the epididymis, blockage of the ejaculatory ducts, hypospadias, exposure to pesticides, and health related issues.|NCI|N|
C0021361|Infertility in a woman.|NCI|N|
C0021364|The inability of the male to effect fertilization of an ovum after a specified period of unprotected intercourse. Male sterility is permanent infertility.|MONDO|N|
C0021368|A finding of a localized protective response resulting from injury or destruction of tissues. Inflammation serves to destroy, dilute, or wall off both the injurious agent and the injured tissue. In the acute phase, inflammation is characterized by the signs of pain, heat, redness, swelling, and loss of function. Histologically, inflammation involves a complex series of events, including dilatation of arterioles, capillaries, and venules, with increased permeability and blood flow; exudation of fluids, including plasma proteins; and leukocyte migration into the site of inflammation.|NCI|N|
C0021376|An inflammatory process characterized by the presence of lymphocytes and plasma cells and the absence of polymorphonuclear neutrophils.|NCI|N|
C0021386|A granuloma that contains areas of necrosis. The majority of cases are of infectious origin.|NCI|N|
C0021390|Inflammatory bowel disease is a systemic disorder comprised of two major disorders: ulcerative colitis and Crohn disease. Crohn disease can affect any part of the digestive system while ulcerative colitis is confined to the colon. Both disorders may affect sites outside of the digestive system|SNOMEDCT_US|N|
C0021400|An acute viral infection of the respiratory tract, occurring in isolated cases, in epidemics, or in pandemics; it is caused by serologically different strains of viruses (influenzaviruses) designated A, B, and C, has a 3-day incubation period, and usually lasts for 3 to 10 days. It is marked by inflammation of the nasal mucosa, pharynx, and conjunctiva; headache; myalgia; often fever, chills, and prostration; and occasionally involvement of the myocardium or central nervous system.|NCI|N|
C0021432|A benign or malignant neoplasm that occurs in brain parenchymal tissue below the tentorium cerebelli.|NCI|N|
C0021447|The protrusion of abdominal cavity contents through the inguinal canal, without mention of obstruction or necrosis of the herniated contents.|NCI|N|
C0021449|Illicit use of chemicals and products whose vapors can be inhaled to produce a rapid mind-altering effect. Inhalants include aerosols, gases, and volatile solvents that are often inhaled repeatedly to achieve the short-lived intoxicating effect.|MSH|N|
C0021508|Disorders caused by external forces rather than by physiologic dysfunction or by pathogens.|MSH|N|
C0021603|Disorders characterized by impairment of the ability to initiate or maintain sleep. This may occur as a primary disorder or in association with another medical or psychiatric condition.|MSH|N|
C0021610|The maximum volume of air a subject can inhale into the lungs after a tidal exhalation (IRV plus TV).|NCI|N|
C0021613|The maximum volume of air a subject can inhale into the lungs after a tidal inhalation.|NCI|N|
C0021645|A hypoglycemia-induced comatose state resulting from a large dose of exogenous insulin.|NCI|N|
C0021655|Increased resistance towards insulin, that is, diminished effectiveness of insulin in reducing blood glucose levels.|HPO|N|
C0021670|A type of tumor of the pancreatic beta cells that secretes excess insulin and can result in hypoglycemia.|HPO|N|
C0021775|Intermittent claudication is a symptom of peripheral arterial occlusive disease. After having walked over a distance which is individually characteristic, the patients experience pain or cramps in the calves, feet or thighs which typically subsides on standing still.|HPO|N|
C0021776|A disorder characterized by recurrent episodes of serious assaultive acts or destruction of property due to a failure to resist aggressive impulses; the degree of aggression during these episodes is grossly out of proportion to any psychosocial provocation. The aggressive episodes are not etiologically linked to another mental disorder, a general medical condition, or substance use.|NCI|N|
C0021807|A type of superficial inflammatory dermatitis occurring where two skin surfaces are in apposition. Intertrigo occurs in the skin fold and results from friction, heat, moisture and may lead to skin infection.|SNOMEDCT_US|N|
C0021818|An INTERVERTEBRAL DISC in which the NUCLEUS PULPOSUS has protruded through surrounding ANNULUS FIBROSUS. This occurs most frequently in the lower lumbar region.|MSH|N|
C0021828|An abnormal closure, or atresia of the tubular structure of the intestine.|HPO|N|
C0021830|A classification of inherited or acquired disorders of sugar metabolism. Deficiencies of lactase, maltase or sucrase-isomaltase usually occur irreversibly and independent of one another. Congenital deficiencies are rare whereas acquired deficiencies are more common and may be seen following intestinal mucosal brush-border injury. Clinical signs include abdominal cramping, bloating, flatulence and diarrhea following dietary intake of lactose, maltose or sucrose. The clinical course leads to malabsorption of disaccharides which has implications for normal growth and development if manifested at an early age.|NCI|N|
C0021831|A non-neoplastic or neoplastic disorder that affects the small or large intestine.|NCI|N|
C0021832|Infections of the INTESTINES with PARASITES, commonly involving PARASITIC WORMS. Infections with roundworms (NEMATODE INFECTIONS) and tapeworms (CESTODE INFECTIONS) are also known as HELMINTHIASIS.|MONDO|N|
C0021833|An abnormal connection between the gut and another hollow organ, such as the bladder, urethra, vagina, or other regions of the gastrointestinal tract.|HPO|N|
C0021841|A benign or malignant neoplasm involving the small or large intestine.|NCI|N|
C0021843|Blockage or impairment of the normal flow of the contents of the intestine towards the anal canal.|HPO|N|
C0021845|A hole (perforation) in the wall of the intestine.|HPO|N|
C0021846|A discrete abnormal tissue mass that protrudes into the lumen of the intestine and is attached to the intestinal wall either by a stalk, pedunculus, or a broad base.|HPO|N|
C0021847|A functional rather than mechanical obstruction of the intestines, associated with manifestations that resemble those caused by an intestinal obstruction, including distension, abdominal pain, nausea, vomiting, constipation or diarrhea, in an individual in whom a mechanical blockage has been excluded.|HPO|N|
C0021874|An abscess that is located in the intracranial space.|NCI|N|
C0021890|A disease or disorder that occurs during the course of a surgical procedure.|NCI|N|
C0021897|A goiter that grows behind the STERNUM and CLAVICLE.|MSH|N|
C0021899|Spontaneous loss of INTRAUTERINE DEVICES from the UTERUS.|MSH|N|
C0021933|An abnormality of the intestine in which part of the intestine invaginates (telescopes) into another part of the intestine.|HPO|N|
C0021943|A type of chromosome rearrangement in which a segment has been turned through 180 degrees (inverted), and inserted back into its original location on the chromosome.|NCI|N|
C0021945|a turning inside-out positioning of a body part|CHV|N|
C0022013|Reversible chemical reaction between a solid, often one of the ION EXCHANGE RESINS, and a fluid whereby ions may be exchanged from one substance to another. This technique is used in water purification, in research, and in industry.|MSH|N|
C0022023|A rare inflammatory optic neuropathy characterized by isolated episodes (either single or recurrent) of optic neuritis not associated with other neurological or systemic disease. Patients typically present with subacute unilateral loss of vision progressing over several days to two weeks, periocular pain and pain on eye movement (which may precede the onset of visual symptoms), light flashes on eye movement, abnormal color vision, reduced contrast sensitivity, and relative afferent pupillary defect. The optic disc appears swollen in many patients, and uveitis may be associated and can be present for years before the onset of optic neuritis.|ORDO|N|
C0022073|A type of anterior uveitis, in which there is Inflammation of the iris and the ciliary body.|HPO|N|
C0022078|A non-neoplastic or neoplastic disorder that affects the iris.|NCI|N|
C0022079|A neoplasm that affects the iris. This category includes nevus and melanoma.|NCI|N|
C0022081|Inflammation of the iris.|HPO|N|
C0022104|Gastrointestinal symptoms characterized by chronic abdominal pain and altered bowel habits in the absence of any organic cause.|NCI|N|
C0022107|Excited response to stimuli.|NCI|N|
C0022116|Lack of blood supply to an area of the body, resulting in impairment of tissue oxygenation.|NCI|N|
C0022134|A benign endocrine neoplasm arising from the pancreas. It is separated from the normal pancreatic tissues by a thin collagenous capsule. It may secrete a hormone (e.g. insulin, gastrin) or it may be non-functional.|NCI|N|
C0022281|Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching in the region of the eye.|HPO|N|
C0022283|A large brown, blue, or gray hamartoma of dermal melanocytes, usually on the shoulder and upper arm that is most commonly found in Asian populations and in females. It is sometimes associated with sensory changes in the involved skin area, but very rarely becomes cancerous.|NCI|N|
C0022333|An epileptic seizure originating within networks limited to one hemisphere and involving motor activity at the onset with spread of clonic movements through contiguous body parts unilaterally, and retained awareness (defined as knowledge of self and environment) throughout the entire duration of the seizure.|SNOMEDCT_US|N|
C0022336|Prion disease represents a group of conditions that affect the nervous system in humans and animals. In people, these conditions impair brain function, causing changes in memory, personality, and behavior; a decline in intellectual function (dementia); and abnormal movements, particularly difficulty with coordinating movements (ataxia). The signs and symptoms of prion disease typically begin in adulthood and worsen with time, leading to death within a few months to several years.|MedlinePlus Genetics|N|
C0022340|CLN2 disease is an inherited disorder that primarily affects the nervous system. The signs and symptoms of this condition typically begin between ages 2 and 4. The initial features usually include recurrent seizures (epilepsy) and difficulty coordinating movements (ataxia). Affected children also develop muscle twitches (myoclonus) and vision loss. CLN2 disease affects motor skills, such as sitting and walking, and speech development. This condition also causes the loss of previously acquired skills (developmental regression), intellectual disability that gradually gets worse, and behavioral problems. Individuals with this condition often require the use of a wheelchair by late childhood and typically do not survive past their teens.\n\nCLN2 disease is one of a group of disorders known as neuronal ceroid lipofuscinoses (NCLs), which may also be collectively referred to as Batten disease. All these disorders affect the nervous system and typically cause worsening problems with vision, movement, and thinking ability. The different NCLs are distinguished by their genetic cause. Each disease type is given the designation "CLN," meaning ceroid lipofuscinosis, neuronal, and then a number to indicate its subtype.\n\nSome children with CLN2 disease do not develop symptoms until later in childhood, typically after age 4. These individuals tend to have milder features overall compared to those diagnosed earlier, but with more severe ataxia. They have a shortened life expectancy, although they tend to survive into adulthood.|MedlinePlus Genetics|N|
C0022346|Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream.|HPO|N|
C0022350|Dubin-Johnson syndrome (DJS) is an autosomal recessive disorder characterized by conjugated hyperbilirubinemia, an increase in the urinary excretion of coproporphyrin isomer I, deposition of melanin-like pigment in hepatocytes, and prolonged retention of sulfobromophthalein, but otherwise normal liver function (summary by Wada et al., 1998).|OMIM|N|
C0022353|Jaundice that appears during the neonatal period. In the majority of cases, it appears in the first week of life and is classified as physiologic due to accelerated destruction of erythrocytes and liver immaturity. In a minority of cases it is classified as non-physiologic, appearing in the first twenty four hours after birth, and is associated with underlying diseases including hemolytic disorders, polycythemia, and cephalohematoma.|NCI|N|
C0022354|A finding indicating increased bilirubin levels in the blood and urine, due to intrahepatic or extrahepatic obstruction of the biliary system.|NCI|N|
C0022360|Congenital absence of or defects in structures of the jaw.|MSH|N|
C0022362|Diseases involving the JAW.|MSH|N|
C0022364|A tumor originating in the jaw (mandible or maxilla).|HPO|N|
C0022366|The total absence of teeth from either the mandible or the maxilla, but not both. Total absence of teeth from both is MOUTH, EDENTULOUS. Partial absence of teeth in either is JAW, EDENTULOUS, PARTIALLY.|MSH|N|
C0022367|Absence of teeth from a portion of the mandible and/or maxilla.|MSH|N|
C0022373|Pathological development in the JEJUNUM region of the SMALL INTESTINE.|MSH|N|
C0022374|A benign or malignant neoplasm that affects the wall of the jejunum. Representative examples include adenoma, carcinoma, and lymphoma.|NCI|N|
C0022387|Jervell and Lange-Nielsen syndrome (JLNS) is characterized by congenital profound bilateral sensorineural hearing loss and long QTc, usually >500 msec. Prolongation of the QTc interval is associated with tachyarrhythmias, including ventricular tachycardia, episodes of torsade de pointes ventricular tachycardia, and ventricular fibrillation, which may culminate in syncope or sudden death. Iron-deficient anemia and elevated levels of gastrin are also frequent features of JLNS. The classic presentation of JLNS is a deaf child who experiences syncopal episodes during periods of stress, exercise, or fright. Fifty percent of individuals with JLNS had cardiac events before age three years. More than half of untreated children with JLNS die before age 15 years.|GeneReviews|N|
C0022408|Any disorder of the joints.|NCI|N|
C0022410|Lack of stability of a joint or joint prosthesis.|MSH|N|
C0022411|Small fragments of articular cartilage that break off in a joint as a result of a injury, degeneration, or other processes.|HPO|N|
C0022415|Tuberculosis affecting a joint.|NCI|N|
C0022504|A disseminated vesicular-pustular eruption caused by the herpes simplex virus (HERPESVIRUS HOMINIS), the VACCINIA VIRUS, or Varicella zoster (HERPESVIRUS 3, HUMAN). It is usually superimposed on a preexisting, inactive or active, atopic dermatitis (DERMATITIS, ATOPIC).|MSH|N|
C0022541|Mitochondrial DNA (mtDNA) deletion syndromes predominantly comprise three overlapping phenotypes that are usually simplex (i.e., a single occurrence in a family), but rarely may be observed in different members of the same family or may evolve from one clinical syndrome to another in a given individual over time. The three classic phenotypes caused by mtDNA deletions are Kearns-Sayre syndrome (KSS), Pearson syndrome, and progressive external ophthalmoplegia (PEO). KSS is a progressive multisystem disorder defined by onset before age 20 years, pigmentary retinopathy, and PEO; additional features include cerebellar ataxia, impaired intellect (intellectual disability, dementia, or both), sensorineural hearing loss, ptosis, oropharyngeal and esophageal dysfunction, exercise intolerance, muscle weakness, cardiac conduction block, and endocrinopathy. Pearson syndrome is characterized by sideroblastic anemia and exocrine pancreas dysfunction and may be fatal in infancy without appropriate hematologic management. PEO is characterized by ptosis, impaired eye movements due to paralysis of the extraocular muscles (ophthalmoplegia), oropharyngeal weakness, and variably severe proximal limb weakness with exercise intolerance. Rarely, a mtDNA deletion can manifest as Leigh syndrome.|GeneReviews|N|
C0022546|Multiple erythrocytic antigens that comprise at least three pairs of alternates and amorphs, determined by one complex gene or possibly several genes at closely linked loci. The system is important in transfusion reactions. Its expression involves the X-chromosome.|MSH|N|
C0022548|An irregularly shaped, elevated mark on the skin caused by deposits of excessive amounts of collagen during wound healing. It extends beyond the original boundaries of the wound and may enlarge progressively.|NCI|N|
C0022568|Inflammation of the cornea.|HPO|N|
C0022570|Infection of the cornea with herpes simplex virus, resulting in branching ulcers of the corneal tissue.|NCI|N|
C0022572|Keratoacanthoma (KA) is a common benign epithelial tumor that originates from the pilosebaceous glands. In most cases, it is characterized by rapid evolution, followed by spontaneous resolution over 4 to 6 months. KA usually presents as a solitary flesh-coloured nodule with a central keratin plug on the sun-exposed skin of elderly individuals.|HPO|N|
C0022573|Inflammation of the cornea and conjunctiva.|HPO|N|
C0022575|Dryness of the eye related to deficiency of the tear film components (aqueous, mucin, or lipid), lid surface abnormalities, or epithelial abnormalities. Keratoconjunctivitis sicca often results in a scratchy or sandy sensation (foreign body sensation) in the eyes, and may also be associated with itching, inability to produce tears, photosensitivity, redness, pain, and difficulty in moving the eyelids.|HPO|N|
C0022576|Infectious diseases of cattle, sheep, and goats, characterized by blepharospasm, lacrimation, conjunctivitis, and varying degrees of corneal opacity and ulceration. In cattle the causative agent is MORAXELLA (MORAXELLA) BOVIS; in sheep, MYCOPLASMA; RICKETTSIA; CHLAMYDIA; or ACHOLEPLASMA; in goats, RICKETTSIA.|MSH|N|
C0022577|A rare disorder of the anterior segment of the eye, characterized by a severe recurrent allergic reaction affecting the cornea and the conjunctiva. It presents with red eyes, ocular itching, photophobia, foreign body sensation, mucous discharge, blepharospasm, and blurring of vision. The symptoms are typically bilateral but may be asymmetric. Characteristic signs include conjunctival injection, giant papillae mostly on the upper tarsal conjunctiva (cobblestone appearance), limbal gelatinous infiltrates (Horner-Trantas dots), and variable corneal signs. The condition is more prevalent in hot climates and most commonly affects young boys.|ORDO|N|
C0022578|A cone-shaped deformity of the cornea characterized by the presence of corneal distortion secondary to thinning of the apex.|HPO|N|
C0022579|A skin disorder consisting of hypertrophy of the stratum corneum of the skin.|NCI|N|
C0022581|Focal or diffuse thickening of the skin not inherited as a primary genetic disorder. Causes include inflammatory skin disorders, infectious disorders, lymphedema, and medications.|NCI|N|
C0022584|Diffuse abnormal thickening of the skin on the palms and soles.|HPO|N|
C0022593|Excessive growth of keratin on the skin.|NCI|N|
C0022595|Darier-White disease (DAR), also known as keratosis follicularis, is an autosomal dominant skin disorder characterized by warty papules and plaques in seborrheic areas (central trunk, flexures, scalp, and forehead), palmoplantar pits, and distinctive nail abnormalities (Sakuntabhai et al., 1999). Onset is usually before the third decade, and penetrance is complete in adults, although expressivity is variable. Involvement may be severe, with widespread itchy malodorous crusted plaques, painful erosions, blistering, and mucosal lesions. Secondary infection is common. Sun, heat, and sweating exacerbate the symptoms. Darier disease never remits, but oral retinoids may reduce hyperkeratosis. Neuropsychiatric abnormalities, including mild mental retardation and epilepsy, have been described in association with Darier disease in a few families (Burge and Wilkinson, 1992); whether this is an association based on pleiotropism of the mutant gene or reflects coincidence is not clear. Histologic findings are (1) mild nonspecific perivascular infiltration in the dermis; (2) dermal villi protruding into the epidermis; (3) suprabasal detachment of the spinal layer leading to the formation of lacunae containing acantholytic cells; (4) in the more superficial epidermis, dyskeratotic round epidermal cells ('corps ronds'), the most distinctive feature; and (5) in the stratum corneum, 'grains' that resemble parakeratotic cells embedded in a hyperkeratotic horny layer. Electron microscopy reveals loss of desmosomal attachments, perinuclear aggregations of keratin filaments, and cytoplasmic vacuolization. Ultrastructural and immunologic studies suggest the disease results from an abnormality in the desmosome-keratin filament complex leading to a breakdown in cell adhesion.|OMIM|N|
C0022596|Abnormal thickening of the skin localized to the palm of the hand and the sole of the foot.|HPO|N|
C0022602|A scaly, crusty lesion caused by damage from the ultraviolet radiation of the sun, with typical location on sun-exposed areas of the skin. Actinic keratosis lesions are often elevated, rough, and wartlike, and may be red, or occasionally tan, pink, or flesh-toned in color.|HPO|N|
C0022603|Seborrheic keratoses are common benign epidermal lesion that can develop on any part of the body.|OMIM|N|
C0022610|Damage to cerebral nuclei caused in infants by highly increased levels of unconjugated bilirubin. The basal ganglia and brainstem nuclei could be shown to have a yellow staining historically in infants who died of kernicterus, that is, kernicterus is strictly speaking a pathological diagnosis. The presence of kernicterus may be inferred in infants with characteristic acute or chronic bilirubin-induced neurological dysfunction.|HPO|N|
C0022638|Presence of elevated levels of ketone bodies in the body.|HPO|N|
C0022645|A group of antigens consisting principally of Jk(a) and Jk(b), determined by allelic genes. Amorphs are encountered. Antibodies of these substances are usually weak and quite labile, stimulated by erythrocytes.|MSH|N|
C0022656|Patchy or diffuse ischemic destruction of all the elements of renal cortex resulting from significantly diminished renal arterial perfusion. Coagulative necrosis may be present, involving all tubular segments and glomeruli. Nuclei may be pale and pyknotic, or may no longer be apparent. Thrombi may be present in vessels at the edge of the infarct.|HPO|N|
C0022658|A nonspecific term referring to disease or damage of the kidneys.|HPO|N|
C0022661|Impairment of the renal function due to chronic kidney damage.|NCI|N|
C0022665|The presence of a neoplasm of the kidney.|HPO|N|
C0022667|Premature death of cells in the renal papilla (the apex of a renal pyramid which projects into the cavity of a calyx of the kidney and through which collecting ducts discharge urine). Histologically, one observes pale tissue with typical appearance of coagulative necrosis, affecting the renal papillae. Necrosis can be identified by pyknotic nuclei and simplified, flattened epithelium of proximal tubules. The tubular and glomerular basement membranes are still visible without viable nuclei.|HPO|N|
C0022672|Coagulative necrosis of tubular epithelial cells, defined as cells with increased cytoplasmic eosinophilia and nucleus that has a condensed chromatin pattern with fuzzy nuclear contour or has barely visible nuclear basophilic staining. The extent of cortical tubular necrosis is scoredsemiquantitatively as none, mild (less than 25% tubules with necrosis), moderate (25-50 percent), and severe (over 50%).|HPO|N|
C0022679|A kidney containing one or more cysts.|MSH|N|
C0022680|The presence of multiple cysts in both kidneys.|HPO|N|
C0022681|A rare renal tract malformation characterized by dilated malformation of the medullary collecting ducts (typically bilateral), and associated with stone formation, renal colic, hematuria, urinary tract infection, nephrocalcinosis, calcium nephrolithiasis, pyelonephritis, hypercalciuria and hypocitraturia. The disease is associated with abnormal distal tubular functions.|ORDO|N|
C0022682|Morbus Kienboeck is a Juvenile aseptic necrosis affecting the Os lunatum.|HPO|N|
C0022716|Menkes disease (MNK) is an X-linked recessive disorder characterized by generalized copper deficiency. The clinical features result from the dysfunction of several copper-dependent enzymes.|OMIM|N|
C0022729|Infections with bacteria of the genus KLEBSIELLA.|MSH|N|
C0022734|A disorder characterized by the recurrent failure to resist the impulse to steal items of little intrinsic value; the individual experiences a rising subjective sense of tension before the theft and a sense of gratification or relief during the theft.|NCI|N|
C0022735|Klinefelter syndrome, also called 47,XXY, is a chromosomal condition that affects development in people who are assigned male at birth. The signs and symptoms of Klinefelter syndrome vary. In some cases, the features are so mild that the condition is not diagnosed until puberty or adulthood. Researchers believe that up to 65 percent of people with Klinefelter syndrome are never diagnosed.\n\nIndividuals with Klinefelter syndrome typically have small testes that produce a reduced amount of testosterone (primary testicular insufficiency). Testosterone is the hormone that directs male sexual development before birth and during puberty. A small percentage of affected individuals are born with undescended testes (cryptorchidism). Without treatment, the shortage of testosterone can lead to delayed or incomplete puberty, breast enlargement (gynecomastia), decreased muscle mass, decreased bone density, a reduced amount of facial and body hair, and fatigue. Klinefelter syndrome can make it difficult for people with this condition to have biological children (a condition called infertility), but up to half of people with Klinefelter syndrome may be able to have children using assisted reproductive technologies.. \n\nThe other physical changes associated with Klinefelter syndrome are usually subtle. Most commonly, affected individuals are taller than average and 2 to 3 inches taller than would be expected for their family. Other features can include curved pinky fingers (fifth finger clinodactyly), flat feet (pes planus), and, less commonly, abnormal fusion of certain bones in the forearm (radioulnar synostosis).\n\nChildren with Klinefelter syndrome may have low muscle tone (hypotonia), difficulty coordinating movements, and mild delays of certain developmental skills, such as rolling over or walking. Affected children have an increased risk of mild delays in speech and language development. People with Klinefelter syndrome tend to have better receptive language skills (the ability to understand speech) than expressive language skills (vocabulary and the production of speech) and may have difficulty communicating and expressing themselves. Affected individuals have an increased risk for learning disabilities, most commonly problems with reading (dyslexia) and written expression. People with Klinefelter syndrome very rarely have intellectual disabilities. \n\nIndividuals with Klinefelter syndrome may have have anxiety, depression,  impaired social skills, or behavioral differences, such as emotional immaturity during childhood or difficulty with frustration. Affected individuals also have an increased risk for attention-deficit/hyperactivity disorder (ADHD), though they tend to have problems with attention and distractability rather than hyperactivity. People with Klinefelter syndrome are more likely than those without Klinefelter syndrome to have autism spectrum disorder, which is a developmental disorder that affects communication and social interaction.\n\nPeople with Klinefelter syndrome have an increased risk of developing metabolic syndrome, which is a group of conditions that include high blood glucose levels during prolonged periods without food (fasting), high blood pressure (hypertension), increased belly fat, and high levels of fats (lipids) such as cholesterol and triglycerides in the blood. Compared with unaffected people, adults with Klinefelter syndrome also have an increased risk of developing involuntary trembling (tremors) in their arms or hands, breast cancer (if gynecomastia develops), thinning and weakening of the bones (osteoporosis), and autoimmune disorders such as systemic lupus erythematosus and rheumatoid arthritis. Autoimmune disorders are a large group of conditions that occur when the immune system attacks the body's own tissues and organs.|MedlinePlus Genetics|N|
C0022738|Klippel-Feil syndrome (KFS) is a congenital anomaly characterized by a defect in the formation or segmentation of the cervical vertebrae, resulting in a fused appearance. The clinical triad consists of short neck, low posterior hairline, and limited neck movement, although less than 50% of patients demonstrate all 3 clinical features (Tracy et al., 2004).
Genetic Heterogeneity of Klippel-Feil Syndrome
Additional forms of KFS include autosomal recessive KFS2 (214300), caused by mutation in the MEOX1 gene (600147) on chromosome 17q21, autosomal dominant KFS3 (613702), caused by mutation in the GDF3 gene (606522) on chromosome 12p13, and autosomal recessive KFS4 (616549), caused by mutation in the MYO18B gene (607295) on chromosome 22q12.
See also MURCS association (601076), in which Klippel-Feil anomaly is associated with urogenital anomalies.|OMIM|N|
C0022739|Klippel-Trenaunay syndrome is a condition that affects the development of blood vessels, soft tissues (such as skin and muscles), and bones. The disorder has three characteristic features: a red birthmark called a port-wine stain, abnormal overgrowth of soft tissues and bones, and vein malformations.\n\nMost people with Klippel-Trenaunay syndrome are born with a port-wine stain. This type of birthmark is caused by swelling of small blood vessels near the surface of the skin. Port-wine stains are typically flat and can vary from pale pink to deep maroon in color. In people with Klippel-Trenaunay syndrome, the port-wine stain usually covers part of one limb. The affected area may become lighter or darker with age. Occasionally, port-wine stains develop small red blisters that break open and bleed easily.\n\nKlippel-Trenaunay syndrome is also associated with overgrowth of bones and soft tissues beginning in infancy. Usually this abnormal growth is limited to one limb, most often one leg. However, overgrowth can also affect the arms or, rarely, the torso. The abnormal growth can cause pain, a feeling of heaviness, and reduced movement in the affected area. If the overgrowth causes one leg to be longer than the other, it can also lead to problems with walking.\n\nMalformations of veins are the third major feature of Klippel-Trenaunay syndrome. These abnormalities include varicose veins, which are swollen and twisted veins near the surface of the skin that often cause pain. Varicose veins usually occur on the sides of the upper legs and calves. Veins deep in the limbs can also be abnormal in people with Klippel-Trenaunay syndrome. Malformations of deep veins increase the risk of a type of blood clot called a deep vein thrombosis (DVT). If a DVT travels through the bloodstream and lodges in the lungs, it can cause a life-threatening blood clot known as a pulmonary embolism (PE).\n\nOther complications of Klippel-Trenaunay syndrome can include a type of skin infection called cellulitis, swelling caused by a buildup of fluid (lymphedema), and internal bleeding from abnormal blood vessels. Less commonly, this condition is also associated with fusion of certain fingers or toes (syndactyly) or the presence of extra digits (polydactyly).|MedlinePlus Genetics|N|
C0022765|A rare bone disease characterized by avascular necrosis of the navicular bone in children. Patients present with sudden unexplained foot pain, inability to bear weight, and limping. Radiographic features include flattening, fragmentation, and patchy sclerosis of the navicular bone. Soft tissue swelling may be associated. The condition is most commonly unilateral and self-limiting. Boys are more often affected than girls.|ORPHANET|N|
C0022782|A precancerous condition characterized by the presence of abnormal whitish areas on the glans or prepuce of the penis. Risk factors include chronic irritation, inflammation, and infection of the penis, and poor genital hygiene.|NCI|N|
C0022783|The presence of hyperkeratotic white patches on the vulvar epithelium.|NCI|N|
C0022790|Metastatic signet-ring cell carcinoma in the ovary. The primary site is the gastrointestinal tract or breast.|NCI|N|
C0022797|A genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs) with onset during the third decade of life, characterized by dementia, seizures and loss of motor capacities, and sometimes associated with visual loss caused by retinal degeneration.|ORDO|N|
C0022802|A rare acquired human prion disease characterized by rapidly progressive, fatal neurodegeneration, caused by the consumption of prion-containing tissue in endocannibalistic funeral rituals in Papua New Guinea until the late 1950s. After a decades-long asymptomatic period and a non-specific prodromal phase with headaches and arthralgia, the most prominent neurological feature is ataxia, in addition to other symptoms involving the cerebellum, brain stem, mid-brain, hypothalamus, and cerebral cortex, and emotional changes including inappropriate euphoria and compulsive laughter, or depression and apprehension. The last reported patient died in 2005 with an incubation period extending over four decades.|ORDO|N|
C0022806|A syndrome produced by severe protein deficiency, characterized by retarded growth, changes in skin and hair pigment, edema, and pathologic changes in the liver, including fatty infiltration, necrosis, and fibrosis. The word is a local name in Gold Coast, Africa, meaning 'displaced child'. Although first reported from Africa, kwashiorkor is now known throughout the world, but mainly in the tropics and subtropics. It is considered to be related to marasmus. (From Dorland, 27th ed)|MONDO|N|
C0022810|A rare infectious disease caused by the kyasanura forest disease virus and clinically characterized by an initial fever, headache and myalgia that can progress to a hemorrhagic disease and that in some cases is followed by a second phase characterized by neurological manifestations.|ORDO|N|
C0022821|Exaggerated anterior convexity of the thoracic vertebral column.|HPO|N|
C0022865|Any unintended event during the labor process that makes delivery more difficult.|NCI|N|
C0022868|The beginning of true OBSTETRIC LABOR which is characterized by the cyclic uterine contractions of increasing frequency, duration, and strength causing CERVICAL DILATATION to begin (LABOR STAGE, FIRST ).|MSH|N|
C0022869|The position or orientation of the FETUS at near term or during OBSTETRIC LABOR, determined by its relation to the SPINE of the mother and the birth canal. The normal position is a vertical, cephalic presentation with the fetal vertex flexed on the NECK.|MSH|N|
C0022876|Regular uterine activity with associated cervical change prior to 37 weeks gestation.|NCI|N|
C0022882|Accidentally acquired infection in laboratory workers.|MSH|N|
C0022890|A condition affecting the bony or membranous labyrinth of the inner ear and which may be characterized by vertigo, dysequilibrium, nystagmus, or hearing loss.|NCI|N|
C0022893|Inflammation of the anatomical structures of the inner ear secondary to an infectious process. Symptoms include severe vertigo, nausea, vomiting, anxiety, and pain. Viral etiology is most common, and recent history of an upper respiratory infection is common.|NCI|N|
C0022904|A non-neoplastic or neoplastic disorder that affects the lacrimal gland and/or the lacrimal drainage system.|NCI|N|
C0022906|Blockage of the tear duct.|NCI|N|
C0022927|A disorder not necessarily related to pregnancy that is observed in females and males. It is characterized by disturbances of milk secretion. Causes include damage to the breast parenchyma due to inflammation, medications, pituitary tumors, and hypothyroidism.|NCI|N|
C0022951|An inability to digest lactose.|HPO|N|
C0022972|Lambert-Eaton myasthenic syndrome (LEMS) is an autoimmune, presynaptic disorder of neuromuscular transmission characterized by fluctuating muscle weakness and autonomic dysfunction frequently associated with small-cell lung cancer (SCLC).|ORDO|N|
C0022976|A departure from the normal gait in animals.|MSH|N|
C0023003|Trichorhinophalangeal syndrome (TRPS) comprises TRPS I (caused by a heterozygous pathogenic variant in TRPS1) and TRPS II (caused by contiguous gene deletion of TRPS1, RAD21, and EXT1). Both types of TRPS are characterized by distinctive facial features; ectodermal features (fine, sparse, depigmented, and slow growing hair; dystrophic nails; and small breasts); and skeletal findings (short stature; short feet; brachydactyly with ulnar or radial deviation of the fingers; and early, marked hip dysplasia). TRPS II is characterized by multiple osteochondromas (typically first observed clinically on the scapulae and around the elbows and knees between ages 1 month and 6 years) and an increased risk of mild-to-moderate intellectual disability.|GeneReviews|N|
C0023014|Conditions characterized by language abilities (comprehension and expression of speech and writing) that are below the expected level for a given age, generally in the absence of an intellectual impairment. These conditions may be associated with DEAFNESS; BRAIN DISEASES; MENTAL DISORDERS; or environmental factors.|MSH|N|
C0023015|Language impairment is a deficit in comprehension or production of language that includes reduced vocabulary, limited sentence structure, or impairments in written or spoken communication. Language abilities are substantially and quantifiably below age expectations.|HPO|N|
C0023048|Infections caused by nematode larvae which never develop into the adult stage and migrate through various body tissues. They commonly infect the skin, eyes, and viscera in man. Ancylostoma brasiliensis causes cutaneous larva migrans. Toxocara causes visceral larva migrans.|MSH|N|
C0023049|A parasitic infection caused by worms found in domestic animals. In humans nematode larvae enter the portal system from the small intestine and disseminate in visceral organs causing inflammatory reactions. Signs and symptoms include eosinophilia, hepatomegaly, splenomegaly, and lung infections.|NCI|N|
C0023051|A non-neoplastic or neoplastic disorder that affects the larynx. Representative examples include laryngitis, vocal cord polyp, squamous papilloma, and carcinoma.|NCI|N|
C0023052|An abnormal accumulation of fluid and swelling in the tissues of the larynx.|HPO|N|
C0023055|A benign or malignant neoplasm involving the larynx.|NCI|N|
C0023059|Inflammation of LARYNGEAL CARTILAGES, usually due to infections.|MSH|N|
C0023066|A spasm (involuntary contraction) of the vocal cords that can make it difficult to speak or breathe.|HPO|N|
C0023067|An acute or chronic, bacterial or viral inflammatory process affecting the larynx. Signs and symptoms include sore throat, cough, swallowing difficulties, and hoarseness.|NCI|N|
C0023075|Stricture or narrowing of the larynx that may be associated with symptoms of respiratory difficulty depending on the degree of laryngeal narrowing.|HPO|N|
C0023076|An inflammation of both larynx and trachea.|MONDO|N|
C0023092|Lassa fever (LF) is a potentially severe viral hemorrhagic disease caused by Lassa virus and characterized by initial fever and malaise followed by gastrointestinal symptoms and, in severe cases, bleeding, shock and multi-organ system failure.|ORDO|N|
C0023114|preferential use of the hand of one side in voluntary motor acts.|CSP|N|
C0023138|PNPLA6 disorders span a phenotypic continuum characterized by variable combinations of cerebellar ataxia; upper motor neuron involvement manifesting as spasticity and/or brisk reflexes; chorioretinal dystrophy associated with variable degrees of reduced visual function; and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). The hypogonadotropic hypogonadism occurs either in isolation or as part of anterior hypopituitarism (growth hormone, thyroid hormone, or gonadotropin deficiencies). Common but less frequent features are peripheral neuropathy (usually of axonal type manifesting as reduced distal reflexes, diminished vibratory sensation, and/or distal muscle wasting); hair anomalies (long eyelashes, bushy eyebrows, or scalp alopecia); short stature; and impaired cognitive functioning (learning disabilities in children; deficits in attention, visuospatial abilities, and recall in adults). Some of these features can occur in distinct clusters on the phenotypic continuum: Boucher-Neuhäuser syndrome (cerebellar ataxia, chorioretinal dystrophy, and hypogonadotropic hypogonadism); Gordon Holmes syndrome (cerebellar ataxia, hypogonadotropic hypogonadism, and – to a variable degree – brisk reflexes); Oliver-McFarlane syndrome (trichomegaly, chorioretinal dystrophy, short stature, intellectual disability, and hypopituitarism); Laurence-Moon syndrome; and spastic paraplegia type 39 (SPG39) (upper motor neuron involvement, peripheral neuropathy, and sometimes reduced cognitive functioning and/or cerebellar ataxia).|GeneReviews|N|
C0023182|The loss of cerebrospinal fluid into the surrounding tissues.|NCI|N|
C0023186|A group of disorders that affect a person''s ability to learn or process specific types of information which is in contrast to his/her apparent level of intellect.|NCI|N|
C0023195|Complete LCAT deficiency is a disorder that primarily affects the eyes and kidneys.\n\nIn complete LCAT deficiency, the clear front surface of the eyes (the corneas) gradually becomes cloudy. The cloudiness, which generally first appears in early childhood, consists of small grayish dots of cholesterol (opacities) distributed across the corneas. Cholesterol is a waxy, fat-like substance that is produced in the body and obtained from foods that come from animals; it aids in many functions of the body but can become harmful in excessive amounts. As complete LCAT deficiency progresses, the corneal cloudiness worsens and can lead to severely impaired vision.\n\nPeople with complete LCAT deficiency often have kidney disease that begins in adolescence or early adulthood. The kidney problems get worse over time and may eventually lead to kidney failure. Individuals with this disorder also usually have a condition known as hemolytic anemia, in which red blood cells are broken down (undergo hemolysis) prematurely, resulting in a shortage of red blood cells (anemia). Anemia can cause pale skin, weakness, fatigue, and more serious complications.\n\nOther features of complete LCAT deficiency that occur in some affected individuals include enlargement of the liver (hepatomegaly), spleen (splenomegaly), or lymph nodes (lymphadenopathy) or an accumulation of fatty deposits on the artery walls (atherosclerosis).|MedlinePlus Genetics|N|
C0023211|A conduction block of the left branch of the bundle of His. This manifests as a generalized disturbance of QRS morphology on EKG.|HPO|N|
C0023212|Failure of adequate output by the left ventricle despite an increase in distending pressure and in end-diastolic volume, with dyspnea, orthopnea, and other signs and symptoms of pulmonary congestion and edema.|NCI|N|
C0023213|Left ventricular outflow tract (LVOT) obstruction can occur at the valvular, subvalvular, or supravalvular level. In general, there is an obstruction to forward flow which increases afterload, and if untreated, can result in hypertrophy, dilatation, and eventual failure of the left ventricle.|HPO|N|
C0023218|An involuntary contraction of a muscle supporting the femur.|NCI|N|
C0023219|A nonspecific term used to denote any cutaneous lesion or group of lesions, or eruptions of any type on the leg. (From Stedman, 25th ed)|MONDO|N|
C0023221|A difference in length or diameter between the left and right leg.|HPO|N|
C0023222|An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the leg.|HPO|N|
C0023223|A circumscribed, inflammatory, and often suppurating lesion that causes necrosis of tissue on the skin of the limb comprising the hip, thigh, leg and foot.|NCI|N|
C0023234|Legg-Calve-Perthes disease (LCPD) is characterized by loss of circulation to the femoral head, resulting in avascular necrosis in a growing child. Clinical pictures of the disease vary, depending on the phase of disease progression through ischemia, revascularization, fracture and collapse, and repair and remodeling of the bone. The disease occurs more frequently in boys, and most patients tend to be shorter than their peers. Both familial and isolated cases of LCPD have been reported (summary by Chen et al., 2004).|OMIM|N|
C0023240|Legionellosis or Legionnaires' disease (LD) is a bacterial lung infection characterized by a potentially fatal pneumonia.|ORDO|N|
C0023241|A pneumonia caused by Legionella pneumophila and other Legionella species, which is characterized by fever, cough, progressive respiratory distress, and which is often accompanied by extrapulmonary manifestations.|NCI|N|
C0023264|Leigh syndrome is a clinically and genetically heterogeneous disorder resulting from defective mitochondrial energy generation. It most commonly presents as a progressive and severe neurodegenerative disorder with onset within the first months or years of life, and may result in early death. Affected individuals usually show global developmental delay or developmental regression, hypotonia, ataxia, dystonia, and ophthalmologic abnormalities, such as nystagmus or optic atrophy. The neurologic features are associated with the classic findings of T2-weighted hyperintensities in the basal ganglia and/or brainstem on brain imaging. Leigh syndrome can also have detrimental multisystemic affects on the cardiac, hepatic, gastrointestinal, and renal organs. Biochemical studies in patients with Leigh syndrome tend to show increased lactate and abnormalities of mitochondrial oxidative phosphorylation (summary by Lake et al., 2015).
Genetic Heterogeneity of Leigh Syndrome
Leigh syndrome may be a clinical presentation of a primary deficiency caused by genes in any of the mitochondrial respiratory chain complexes: complex I deficiency (see 252010), complex II deficiency (see 252011), complex III deficiency (see 124000), complex IV deficiency (cytochrome c oxidase; see 220110), and complex V deficiency (see 604273) (summary by Lake et al., 2015).
Mutations in mitochondrial genes have also been identified in patients with Leigh syndrome: see MTTV (590105), MTTK (590060), MTTW (590095), and MTTL1 (590050).
Leigh syndrome may also be caused by mutations in components of the pyruvate dehydrogenase complex (e.g., DLD, 238331 and PDHA1, 300502).
Deficiency of coenzyme Q10 (607426) can present as Leigh syndrome.
Some forms of combined oxidative phosphorylation deficiency can present as Leigh syndrome (see, e.g., 617664).|OMIM|N|
C0023267|A well-circumscribed benign smooth muscle neoplasm characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.|NCI|N|
C0023269|A smooth muscle connective tissue tumor, which is rare type of cancer that is a malignant neoplasm of smooth muscle. When such a neoplasm is benign, it is called a leiomyoma.|HPO|N|
C0023281|A parasitic disease caused by different species of the genus <i>Leishmania</i>, transmitted through the bite of hematophagous female phlebotomine sand flies. The clinical spectrum ranges from asymptomatic to clinically overt disease which can remain localized to the skin or disseminate to the upper oral and respiratory mucous membranes or throughout the reticulo-endothelial system. Three main clinical syndromes have been described: visceral (or Kala-Azar; with fever, weight loss, hepatosplenomegaly), cutaneous, and mucocutaneous leishmaniasis (cutaneous or mucocutaneous ulceration).|ORDO|N|
C0023283|Leishmaniasis affecting the skin. It is the most common form of leishmaniasis. It presents with erythematous macules and papules, and nodules which may eventually ulcerate. The lesions appear in the bite site in the exposed skin areas.|NCI|N|
C0023285|An acute necrotizing form of cutaneous leishmaniasis caused by Infection with leishmania tropica major.|NCI|N|
C0023290|A chronic parasitic infection affecting the viscera and caused by Leishmania donovani. Signs and symptoms include fever, anorexia, fatigue, lymphadenopathy, anemia, and hepatosplenomegaly. If left untreated it may lead to death.|NCI|N|
C0023308|A non-neoplastic or neoplastic disorder that affects the lens of the eye.|NCI|N|
C0023309|Complete dislocation of the lens of the eye.|HPO|N|
C0023316|Partial dislocation of the lens of the eye.|HPO|N|
C0023321|A flat, benign, pigmented spot on the skin caused by excessive deposition of melanin from an increased number of melanocytes in the cell layer directly above the basement membrane of the epidermis. Formation is usually related to sun exposure during youth, and the lesions do not typically progress to malignancy.|NCI|N|
C0023343|A chronic infectious disease affecting primarily the skin and peripheral nervous system.|ORDO|N|
C0023346|A form of leprosy in which there are clinical manifestations of both principal types (lepromatous and tuberculoid). The disease may shift toward one of these two polar or principal forms.|MONDO|N|
C0023348|A chronic communicable infection which is a principal or polar form of leprosy. This disorder is caused by mycobacterium leprae and produces diffuse granulomatous skin lesions in the form of nodules, macules, or papules. The peripheral nerves are involved symmetrically and neural sequelae occur in the advanced stage.|MONDO|N|
C0023351|A principal or polar form of leprosy in which the skin lesions are few and are sharply demarcated. Peripheral nerve involvement is pronounced and may be severe. Unlike lepromatous leprosy (leprosy, lepromatous), the lepromin test is positive. Tuberculoid leprosy is rarely a source of infection to others.|MONDO|N|
C0023364|Leptospirosis is an anthropozoonosis caused by spiral-shaped bacteria belonging to the genus Leptospira. Leptospirosis is a widespread zoonosis with a worldwide distribution and has emerged as a major public health problem in developing countries in South-East Asia and South America.|ORDO|N|
C0023370|An atherosclerotic disorder of the peripheral vascular system affecting mostly males in their later decades. It is caused by thrombotic occlusion of the abdominal aorta just above the level of the bifurcation. Clinical signs include impotence, intermittent claudication, diminished femoral pulses and cold, pallid lower extremities. Prognosis is favorable with surgical or endovascular intervention.|NCI|N|
C0023374|HPRT1 disorders, caused by deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HGprt), are typically associated with clinical evidence for overproduction of uric acid (hyperuricemia, nephrolithiasis, and/or gouty arthritis) and varying degrees of neurologic and/or behavioral problems. Historically, three phenotypes were identified in the spectrum of HPRT1 disorders: Lesch-Nyhan disease (LND) at the most severe end with motor dysfunction resembling severe cerebral palsy, intellectual disability, and self-injurious behavior; HPRT1-related neurologic dysfunction (HND) in the intermediate range with similar but fewer severe neurologic findings than LND and no self-injurious behavior; and HPRT1-related hyperuricemia (HRH) at the mild end without overt neurologic deficits. It is now recognized that these neurobehavioral phenotypes cluster along a continuum from severe to mild.|GeneReviews|N|
C0023380|A state of disinterest, listlessness, and indifference, resulting in difficulty performing simple tasks or concentrating.|HPO|N|
C0023381|A multifocal, multisystem form of Langerhans-cell histiocytosis. There is involvement of multiple organ systems including the bones, skin, liver, spleen, and lymph nodes. Patients are usually infants presenting with fever, hepatosplenomegaly, lymphadenopathy, bone and skin lesions, and pancytopenia.|NCI|N|
C0023418|A cancer of the blood and bone marrow characterized by an abnormal proliferation of leukocytes.|HPO|N|
C0023420|An experimental LYMPHOCYTIC LEUKEMIA of mice.|MSH|N|
C0023421|An experimental lymphocytic leukemia of mice.|MSH|N|
C0023429|An experimental lymphocytic leukemia originally induced in DBA/2 mice by painting with methylcholanthrene.|MSH|N|
C0023434|Chronic lymphocytic leukemia (CLL) is a common neoplasia of B lymphocytes in which these cells progressively accumulate in the bone marrow, blood, and lymphoid tissues. The clinical evolution of the disorder is heterogeneous, with some patients having indolent disease and others having aggressive disease and short survival (summary by Quesada et al., 2012).
Genetic Heterogeneity of Susceptibility to Chronic Lymphocytic Leukemia
Susceptibility loci have been mapped to chromosomes 11p11 (CLLS1; 609630) and 13q14 (CLLS2; 109543) by genomewide linkage analysis and translocation studies, respectively. Susceptibility mapping to chromosome 9q34 (CLLS3; 612557) is associated with downregulation of the DAPK1 gene (600831). Genomewide association studies have identified susceptibility loci on chromosomes 6p25.3 (CLLS4; 612558) and 11q24.1 (CLLS5; 612559).|OMIM|N|
C0023437|A rare acute myeloid leukemia characterized by primary differentiation to basophils. Microscopically, peripheral blood and bone marrow blasts contain coarse cytoplasmic basophilic granules which are positive with metachromatic staining (toluidine blue). Electron microscopy confirms that granules show features characteristic of basophil precursors. Mature basophils are usually sparse. Patients may present with manifestations related to bone marrow failure, as well as hepatosplenomegaly, cutaneous involvement, lytic lesions, and hyperhistaminemia. The disease is associated with a poor prognosis.|ORDO|N|
C0023438|Acute lymphoblastic leukemia which is positive for the common acute lymphoblastic leukemia antigen.|NCI|N|
C0023439|A poorly defined concept which at best is described as an extremely rare entity, possibly related to various subtypes of acute myeloid leukemia with abnormal eosinophils. (WHO, 2001)|NCI|N|
C0023440|A rare unclassified acute myeloid leukemia characterized by a proliferation of immature cells exclusively of the erythroid lineage without a significant myeloblastic component. Microscopically, the cells may be undifferentiated or proerythroblastic in appearance. Patients may present with pancytopenia with fatigue, infections, and mucocutaneous bleedings, as well as weight loss, fever, and night sweats. Prognosis is poor.|ORDO|N|
C0023443|A rare, slowly progressive, chronic leukemia characterized by presence of abnormal B-lymphocytes (medium sized with abundant irregular pale cytoplasm, hair-like cytoplasmic projections/ruffled cytoplasmic border, a round or bean-shaped nucleus and absent nucleoli) in the blood or bone marrow, spleen and peripheral blood pancytopenia, notable monocytopenia, and marked susceptibility to infection. The characteristic immunophenotype is CD11c+, CD25+, CD103+ and CD123+ with a BRAF mutation in most cases.|ORDO|N|
C0023448|A malignant lymphocytic neoplasm of B-cell or T-cell lineage involving primarily the bone marrow and the peripheral blood. This category includes precursor or acute lymphoblastic leukemias and chronic leukemias.|HPO|N|
C0023449|Acute lymphoblastic leukemia (ALL), also known as acute lymphocytic leukemia, is a subtype of acute leukemia, a cancer of the white blood cells. Somatically acquired mutations in several genes have been identified in ALL lymphoblasts, cells in the early stages of differentiation. Germline variation in certain genes may also predispose to susceptibility to ALL (Trevino et al., 2009).
Genetic Heterogeneity of Acute Lymphoblastic Leukemia
A susceptibility locus for acute lymphoblastic leukemia (ALL1) has been mapped to chromosome 10q21. See also ALL2 (613067), which has been mapped to chromosome 7p12.2; and ALL3 (615545), which is caused by mutation in the PAX5 gene (167414) on chromosome 9p.|OMIM|N|
C0023452|An acute lymphoblastic leukemia (current term: precursor lymphoblastic leukemia) of B-or T-cell origin which according to the FAB classification is characterized by the presence of more mature-appearing lymphoblasts.|NCI|N|
C0023453|An antiquated term that refers to acute lymphoblastic leukemia with large and irregular lymphoblasts.|NCI|N|
C0023461|A very rare malignant systemic mastocytosis (SM) characterized by a huge infiltration of bone marrow, and often of blood, by abnormal mast cells (MC) which frequently manifests with organ dysfunction (liver, spleen, peritoneum, bones, and marrow).|ORDO|N|
C0023462|A rare subtype of acute myeloid leukemia evolving from primitive megakaryoblasts.|HPO|N|
C0023464|A type of actue leukemia with features characteristic of both the myeloid and lymphoid lineages. These leukemias are for this reason are designated mixed-lineage, hybrid or biphenotypic acute leukemias.|HPO|N|
C0023465|The accumulation of transformed primitive hematopoietic blast cells, which lose their ability of normal differentiation and proliferation.|HPO|N|
C0023466|Form of leukemia characterized by an uncontrolled proliferation of the myeloid lineage and their precursors (myeloid progenitor cells) in the bone marrow and other sites.|MONDO|N|
C0023467|A clonal expansion of myeloid blasts in the bone marrow, blood or other tissues. The classification of acute myeloid leukemias (AMLs) encompasses four major categories: 1) AML with recurrent genetic abnormalities; 2) AML with multilineage dysplasia; 3) Therapy-related AML; 4) AML not otherwise specified. The required bone marrow or peripheral blood blast percentage for the diagnosis of AML is 20% (WHO classification)|NCBI curation|N|
C0023470|A leukemia that originates from a myeloid cell, that is the blood forming cells of the bone marrow.|HPO|N|
C0023472|A phase of chronic myelogenous leukemia characterized by one or more of the following: 1) Myeloblasts accounting for 10-19% of the peripheral blood white cells or of the nucleated cells in the bone marrow, 2) peripheral blood basophils at least 20%, 3) persistent thrombocytopenia that is unrelated to therapy, 4) persistent thrombocytosis despite adequate therapy, 5) increasing white blood cell count and increasing spleen size unresponsive to therapy, and/or evidence of clonal evolution. (WHO, 2001)|NCI|N|
C0023474|A phase of chronic myelogenous leukemia in which the peripheral blood smear shows leukocytosis due mainly to neutrophils in different stages of maturation. Blasts usually account for less than 2% of the white blood cells counts. The platelet count is normal or increased. Thrombocytopenia is very uncommon during the chronic phase. Most patients have mild anemia. The bone marrow biopsy is hypercellular due to increased numbers of neutrophils and their precursors. Blasts usually account for fewer than 5% of the marrow cells, and more than 10% indicates transformation to the accelerated phase. Megakaryocytes are smaller than normal and have hypolobated nuclei. The spleen is enlarged due to infiltration of the cords of the red pulp by granulocytes. Most patients with chronic myelogenous leukemia are diagnosed in the chronic phase, which usually has an insidious onset and may last from several months to several years. (WHO, 2001)|NCI|N|
C0023479|An acute leukemia characterized by the proliferation of both neutrophil and monocyte precursors.|HPO|N|
C0023480|A myelodysplastic/myeloproliferative neoplasm which is characterized by persistent monocytosis, absence of a Philadelphia chromosome and BCR/ABL fusion gene, fewer than 20 percent blasts in the bone marrow and blood, myelodysplasia, and absence of PDGFRA or PDGFRB rearrangement.|HPO|N|
C0023481|A rare myeloproliferative neoplasm characterized by sustained peripheral blood neutrophilia, bone marrow hypercellularity due to neutrophilic granulocyte proliferation, and hepatosplenomegaly. Other organs may be infiltrated in addition. Microscopically, the bone marrow shows an increase in proportion of myelocytes and mature neutrophils, but no significant dysplasia in any of the cell lineages. Peripheral blood neutrophils are mostly segmented, although band forms may also be substantially increased. Cytogenetic abnormalities are absent in most cases. The disease is slowly progressive with progredient neutrophilia followed by anemia and thrombocytopenia. Transformation to acute myeloid leukemia may occur.|ORDO|N|
C0023484|A rare plasma cell neoplasm characterized by peripheral plasmacytosis, usually with extensive and diffuse infiltration of the bone marrow, and monoclonal paraproteinemia. Neoplastic plasma cells may also be found in extramedullary sites, such as the liver or spleen, among others. Most cases present as primary plasma cell leukemia without previous diagnosis of myeloma. The condition can also represent leukemic transformation of plasma cell myeloma (secondary plasma cell leukemia). Clinical manifestations include lymphadenopathy, organomegaly, renal failure, bone marrow failure, and peripheral neuropathies. High serum levels of lactate dehydrogenase and beta2-microglobulin, as well as hypercalcemia (potentially leading to hypercalcemic crisis) are typically observed.|ORDO|N|
C0023485|An acute lymphoblastic leukemia that originates from pre-B lymphocytes. The pre-B lymphoblasts contain cytoplasmic immunoglobulin.|NCI|N|
C0023486|A mature B- or T- cell leukemia with progressive clinical course. It is characterized by the presence of medium-sized lymphocytes with visible nucleoli (prolymphocytes) in the peripheral blood, bone marrow, and spleen.|NCI|N|
C0023487|Acute promyelocytic leukemia (APL) is associated with 2 cardinal features: a granulocytic differentiation block and reciprocal and balanced translocations that always involve rearrangement of the RARA gene (180240). The most frequent translocation is t(15,17)(q21;q22), which fuses the RARA gene with the PML gene (102578) and represents more than 98% of APL (Vitoux et al., 2007).|OMIM|N|
C0023488|Leukemia that is caused by radiation.|NCI|N|
C0023492|A malignant disease of the T-lymphocytes in the bone marrow, thymus, and/or blood.|MONDO|N|
C0023493|A rare, virus associated tumor due to human T-cell leukemia virus type 1 or human T-cell lymphotropic virus type 1 (HTLV-1) and is characterized by the presence of anti-HTLV-1 antibodies, and malignant, mature, medium-sized T cells with condensed chromatin and polylobated nuclei. The malignant cells exhibit a mature CD4+ T cells phenotype and express CD2, CD5, CD25, CD45RO, HLA-DR, and T-cell receptor &#945;&#946;. Presentation is heterogeneous and is typically of aggressive leukemia or lymphoma, variable skin eruptions, and visceral organ involvement.|ORDO|N|
C0023494|A slow-growing type of leukemia (blood cancer) in which too many lymphocytes are found in the bone marrow and/or blood. The T-cell is specified as the defective cell line.|NCI|N|
C0023501|A hematology test result that indicates the presence of an increased white blood cell count and increased neutrophil precursors resembling leukemia, in a peripheral blood smear.|NCI|N|
C0023510|A disease involving leukocytes.|MONDO|N|
C0023518|An abnormal increase in the number of leukocytes in the blood.|HPO|N|
C0023520|Leukodystrophy refers to deterioration of white matter of the brain resulting from degeneration of myelin sheaths in the CNS. Their basic defect is directly related to the synthesis and maintenance of myelin membranes. Symmetric white matter involvement at MRI is a typical finding in patients with leukodystrophies.|HPO|N|
C0023521|Krabbe disease comprises a spectrum ranging from infantile-onset disease (i.e., onset of extreme irritability, spasticity, and developmental delay before age 12 months) to later-onset disease (i.e., onset of manifestations after age 12 months and as late as the seventh decade). Although historically 85%-90% of symptomatic individuals with Krabbe disease diagnosed by enzyme activity alone have infantile-onset Krabbe disease and 10%-15% have later-onset Krabbe disease, the experience with newborn screening (NBS) suggests that the proportion of individuals with possible later-onset Krabbe disease is higher than previously thought. Infantile-onset Krabbe disease is characterized by normal development in the first few months followed by rapid severe neurologic deterioration; the average age of death is 24 months (range 8 months to 9 years). Later-onset Krabbe disease is much more variable in its presentation and disease course.|GeneReviews|N|
C0023522|Arylsulfatase A deficiency (also known as metachromatic leukodystrophy or MLD) is characterized by three clinical subtypes: late-infantile MLD, juvenile MLD, and adult MLD. Age of onset within a family is usually similar. The disease course may be from several years in the late-infantile-onset form to decades in the juvenile- and adult-onset forms. Late-infantile MLD. Onset is before age 30 months. Typical presenting findings include weakness, hypotonia, clumsiness, frequent falls, toe walking, and dysarthria. As the disease progresses, language, cognitive, and gross and fine motor skills regress. Later signs include spasticity, pain, seizures, and compromised vision and hearing. In the final stages, children have tonic spasms, decerebrate posturing, and general unawareness of their surroundings. Juvenile MLD. Onset is between age 30 months and 16 years. Initial manifestations include decline in school performance and emergence of behavioral problems, followed by gait disturbances. Progression is similar to but slower than in the late-infantile form. Adult MLD. Onset occurs after age 16 years, sometimes not until the fourth or fifth decade. Initial signs can include problems in school or job performance, personality changes, emotional lability, or psychosis; in others, neurologic symptoms (weakness and loss of coordination progressing to spasticity and incontinence) or seizures initially predominate. Peripheral neuropathy is common. Disease course is variable – with periods of stability interspersed with periods of decline – and may extend over two to three decades. The final stage is similar to earlier-onset forms.|GeneReviews|N|
C0023523|A disorder of the buccal mucosa resembling early leukoplakia, characterized by the presence of filmy opalescence of the mucosa in the early stages to a whitish gray cast with a coarsely wrinkled surface in the later stages, associated with intracellular edema of the spinous or malpighian layer. (Dorland, 27th ed)|MONDO|N|
C0023524|A progressive demyelination within the central nervous system associated with reactivation of a latent JC virus infection.|NCI|N|
C0023529|Periventricular leukomalacia is characterized by diffuse injury of deep cerebral white matter, accompanied in its most severe form by focal necrosis. The neuropathologic hallmarks of PVL are microglial activation and focal and diffuse periventricular depletion of premyelinating oligodendroglia.|HPO|N|
C0023530|An abnormal decreased number of leukocytes in the blood.|HPO|N|
C0023531|A white patch or plaque on a mucous membrane that cannot be characterized clinically or pathologically as any other disease. The diagnosis of leukoplakia is one of exclusion; other conditions such as candidiasis, lichen planus, leukoedema, etc., must be ruled out before a diagnosis of leukoplakia can be made. Leukoplakia may be a premalignant condition.|NCI|N|
C0023532|A thickened white patch on the oral mucosa that cannot be rubbed off.|HPO|N|
C0023533|Whitish or yellowish mucosal vaginal discharge.|NCI|N|
C0023569|Situs inversus of thoracic and abdominal viscera with the heart remaining normally situated on the left; usually associated with congenital cardiac abnormalities such as transposition of the great vessels and/or spleen defects including asplenia or polysplenia.|HPO|N|
C0023595|The primary antigens of the Lewis blood group system, Le(a) and Le(b), are not synthesized by red cells but are introduced into the red cell membrane from plasma. The terminology Le(a) and Le(b) is misleading, as these antigens are not allelic. The Le gene, FUT3, encodes an alpha-1,4-L-fucosyltransferase that catalyzes the addition of a fucose residue to the H antigen to produce Le(b) or to the precursor of H to produce Le(a). The presence of H antigen in secretions is governed by the FUT2 gene (182100). Thus, red cells of most H secretors, who have a functional FUT2 enzyme, are Le(a-b+), and those of H nonsecretors (see 182100.0001), who have a nonfunctional FUT2 enzyme, are Le(a+b-). FUT3 can also convert A antigen to ALe(b) and B antigen to BLe(b) (see 110300). About 6% of white people and 25% of black people are homozygous for loss-of-function FUT2 mutations (e.g., 111100.0001) and therefore have Le(a-b-) red cells and lack Lewis substances in their secretions. In Asia, the red cell phenotype Le(a+b+) is common and results from a weak secretor allele in FUT2 (182100.0002). The Le(c) and Le(d) antigens represent precursors of the Le antigens and are present in increased quantities in plasma of Le(a-b-) individuals. The Le(x) and Le(y) antigens are isomers of Le(a) and Le(b), respectively, and are not present in substantial quantities on red cells. Although Le antibodies are relatively common, hemolytic transfusion reactions are rare, and Le antibodies do not cause serious hemolytic disease of the newborn (summary by Daniels, 2002).|OMIM|N|
C0023600|Hypertrophy or overdevelopment of the interstitial (Leydig) cells of the testis. These cells produce testosterone.|HPO|N|
C0023601|A sex cord-stromal tumor occurring in the testis and rarely in the ovary. It is predominantly or completely composed of Leydig cells which may contain crystals of Reinke. In males it usually presents as a painless testicular enlargement and it may be associated with gynecomastia and decreased libido. The majority of the cases have a benign clinical course. Approximately 10% of the cases have a malignant clinical course and metastasize. In females it may be associated with androgenic manifestations and it follows a benign clinical course.|NCI|N|
C0023643|A long-term skin condition that mainly affects the skin of the genitals. It usually causes itching and white patches to appear on the affected skin.|MONDO|N|
C0023645|A rare cutaneous variant of lichen planus which affects hair follicles. It may occur on its own or in association with more common forms of lichen planus, usually classical type and/or oral lichen planus.|ORDO|N|
C0023646|A chronic, recurrent, pruritic inflammatory disorder of unknown etiology that affects the skin and mucus membranes. It presents with rashes and papules that tend to resolve spontaneously. It may be associated with hepatitis C. Certain drugs that contain arsenic or bismuth are associated with reactions mimicking lichen planus.|NCI|N|
C0023647|A rare variant of cutaneous lichen planus characterized by the development of pale papules or plaques with an atrophic center.|ORDO|N|
C0023648|Bullous lichen planus is a variant of rare lichen planus (see this term) characterized by the development of vesico-bullous lesions.|ORDO|N|
C0023649|A form of lichen planus that is characterized by plaques of markedly thickened skin that is often extremely pruritic and localized to the lower legs. It can result in permanent pigmentation and scarring.|NCI|N|
C0023650|Linear lichen planus (LLP), also referred to as Blaschkoid LP, is a rare type of lichen planus characterized by a linear distribution of lichenoid lesions along the lines of Blaschko, which are embryonic pathways of skin development.|ORDO|N|
C0023652|A chronic inflammatory process affecting the skin. It is characterized by the presence of white, indurated plaques, epidermal atrophy, and fibrosis of the upper dermis. It usually appears in the vulva and penis.|NCI|N|
C0023653|Thickening and hardening of the epidermis seen with exaggeration of normal skin lines.|HPO|N|
C0023656|A red or violaceous flat-topped, papular eruption that is induced by exposure to a variety of medications or environmental agents.|NCI|N|
C0023743|A cancer-related condition in which the gastric wall becomes thickened and rubbery (leather-bottle stomach). It is most often associated with diffuse gastric adenocarcinomas.|NCI|N|
C0023745|The co-inheritance of two or more non-allelic GENES due to their being located more or less closely on the same CHROMOSOME.|MSH|N|
C0023760|A non-neoplastic or neoplastic disorder that affects the lips. Representative examples include inflammation and carcinoma.|NCI|N|
C0023761|A tumor (abnormal growth of tissue) of the lip.|HPO|N|
C0023772|Errors in the metabolism of LIPIDS resulting from inborn genetic MUTATIONS that are heritable.|MSH|N|
C0023775|The degradation of lipids caused by an oxidative attack from free radicals.|NCI|N|
C0023786|Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. While affected individuals have traditionally been classified as having one of three MPS I syndromes (Hurler syndrome, Hurler-Scheie syndrome, or Scheie syndrome), no easily measurable biochemical differences have been identified and the clinical findings overlap. Affected individuals are best described as having either a phenotype consistent with either severe (Hurler syndrome) or attenuated MPS I, a distinction that influences therapeutic options. Severe MPS I. Infants appear normal at birth. Typical early manifestations are nonspecific (e.g., umbilical or inguinal hernia, frequent upper respiratory tract infections before age 1 year). Coarsening of the facial features may not become apparent until after age one year. Gibbus deformity of the lower spine is common and often noted within the first year. Progressive skeletal dysplasia (dysostosis multiplex) involving all bones is universal, as is progressive arthropathy involving most joints. By age three years, linear growth decreases. Intellectual disability is progressive and profound but may not be readily apparent in the first year of life. Progressive cardiorespiratory involvement, hearing loss, and corneal clouding are common. Without treatment, death (typically from cardiorespiratory failure) usually occurs within the first ten years of life. Attenuated MPS I. Clinical onset is usually between ages three and ten years. The severity and rate of disease progression range from serious life-threatening complications leading to death in the second to third decade, to a normal life span complicated by significant disability from progressive joint manifestations and cardiorespiratory disease. While some individuals have no neurologic involvement and psychomotor development may be normal in early childhood, learning disabilities and psychiatric manifestations can be present later in life. Hearing loss, cardiac valvular disease, respiratory involvement, and corneal clouding are common.|GeneReviews|N|
C0023787|Degenerative changes of the fat tissue.|HPO|N|
C0023788|A rare chronic infectious disorder in which almost all organ systems can be invaded by the rod-shaped bacterium Tropheryma whipplei (<i>TW</i>).|ORDO|N|
C0023794|An inherited metabolic disorder in which harmful amounts of lipids accumulate in cells and tissues. Because of a functionally impaired hydrolase or auxiliary protein, their lipid substrates cannot be degraded, accumulate in the lysosome, and slowly spread to other intracellular membranes.|MONDO|N|
C0023795|Lipoid proteinosis (LP) is characterized by deposition of hyaline-like material in various tissues resulting in a hoarse voice from early infancy, vesicles and hemorrhagic crusts in the mouth and on the face and extremities, verrucous and keratotic cutaneous lesions on extensor surfaces (especially the elbows), and moniliform blepharosis (multiple beaded papules along the eyelid margins and inner canthus). Extracutaneous manifestations may include epilepsy, neuropsychiatric disorders, spontaneous CNS hemorrhage, and asymptomatic multiple yellowish nodules throughout the gastrointestinal tract. Generally, the disease course is chronic and fluctuating. Males and females are affected equally. Affected individuals have a normal life span unless they experience laryngeal obstruction.|GeneReviews|N|
C0023798|Benign neoplasia derived from lipoblasts or lipocytes of white or brown fat. May be angiomatous or hibernomatous.|HPO|N|
C0023801|A neoplastic process characterized by diffuse overgrowth of mature adipose tissue.|MONDO|N|
C0023804|Multiple symmetric lipomatosis (MSL) is an autosomal recessive metabolic disorder characterized by the growth of unencapsulated masses of adipose tissue with predilection for the cervical and thoracic regions. The lipoma growth is striking and disfiguring, and growth around the neck may cause difficulty swallowing or breathing. The age at onset ranges from childhood to young adulthood. Most, but not all, patients develop axonal peripheral neuropathy, which can appear at any age and varies in severity. Laboratory studies in MSL show low leptin (164160), low adiponectin (605441), variably increased lactate, and increased FGF21 (609436). Some patients may have insulin resistance. The disorder is exclusively associated with a particular MFN2 mutation (R707W; 608507.0013), usually in the homozygous state, but sometimes in the compound heterozygous state (Rocha et al., 2017; Capel et al., 2018).|OMIM|N|
C0023806|Sialidosis is a severe inherited disorder that affects many organs and tissues, including the nervous system. This disorder is divided into two types, which are distinguished by the age at which symptoms appear and the severity of features.\n\nSialidosis type I, also referred to as cherry-red spot myoclonus syndrome, is the less severe form of this condition. People with type I develop signs and symptoms of sialidosis in their teens or twenties. Initially, affected individuals experience problems walking (gait disturbance) and/or a loss of sharp vision (reduced visual acuity). Individuals with sialidosis type I also experience muscle twitches (myoclonus), difficulty coordinating movements (ataxia), leg tremors, and seizures. The myoclonus worsens over time, causing difficulty sitting, standing, or walking. People with sialidosis type I eventually require wheelchair assistance. Affected individuals have progressive vision problems, including impaired color vision or night blindness. An eye abnormality called a cherry-red spot, which can be identified with an eye examination, is characteristic of this disorder. Sialidosis type I does not affect intelligence or life expectancy.\n\nSialidosis type II, the more severe type of the disorder, is further divided into congenital, infantile, and juvenile forms. The features of congenital sialidosis type II can develop before birth. This form of sialidosis is associated with an abnormal buildup of fluid in the abdominal cavity (ascites) or widespread swelling before birth caused by fluid accumulation (hydrops fetalis). Affected infants may also have an enlarged liver and spleen (hepatosplenomegaly), abnormal bone development (dysostosis multiplex), and distinctive facial features that are often described as "coarse."  As a result of these serious health problems, individuals with congenital sialidosis type II usually are stillborn or die soon after birth.\n\nInfantile sialidosis type II shares some features with the congenital form, although the signs and symptoms are slightly less severe and begin within the first year of life. Features of the infantile form include hepatosplenomegaly, dysostosis multiplex, "coarse" facial features, short stature, and intellectual disability. As children with infantile sialidosis type II get older, they may develop myoclonus and cherry-red spots. Other signs and symptoms include hearing loss, overgrowth of the gums (gingival hyperplasia), and widely spaced teeth. Affected individuals may survive into childhood or adolescence.\n\nThe juvenile form has the least severe signs and symptoms of the different forms of sialidosis type II. Features of this condition usually appear in late childhood and may include mildly "coarse" facial features, mild bone abnormalities, cherry-red spots, myoclonus, intellectual disability, and dark red spots on the skin (angiokeratomas). The life expectancy of individuals with juvenile sialidosis type II varies depending on the severity of symptoms.|MedlinePlus Genetics|N|
C0023817|Familial lipoprotein lipase (LPL) deficiency usually presents in childhood and is characterized by very severe hypertriglyceridemia with episodes of abdominal pain, recurrent acute pancreatitis, eruptive cutaneous xanthomata, and hepatosplenomegaly. Clearance of chylomicrons from the plasma is impaired, causing triglycerides to accumulate in plasma and the plasma to have a milky (lactescent or lipemic) appearance. Symptoms usually resolve with restriction of total dietary fat to =20 g/day.|GeneReviews|N|
C0023827|Malignant neoplasms which probably originate in primitive mesenchymal stem cell populations differentiating down a lipomatous pathway.|HPO|N|
C0023860|A rare bacterial infectious disease caused by the foodborne pathogen <i>Listeria monocytogenes</i>, characterized by a febrile gastroenteritis, which is usually mild and self-limiting in otherwise healthy persons, but can progress to severe illness in at-risk groups like pregnant women, elderly people, immunocompromised people, and neonates. Complications include sepsis, meningitis, and encephalitis. Listeriosis during pregnancy usually occurs during the third trimester and may lead to preterm labor, miscarriage, stillbirth, or intrauterine infection of the unborn child.|ORDO|N|
C0023869|The formation of stones (calculi) in the body.|NCI|N|
C0023882|Spasticity (neuromuscular hypertonia) primarily in the muscles of the legs, hips, and pelvis.|HPO|N|
C0023885|A circumscribed area of pus or necrotic debris in the liver.|HPO|N|
C0023886|Single or multiple areas of PUS due to infection by any ameboid protozoa (AMEBIASIS). A common form is caused by the ingestion of ENTAMOEBA HISTOLYTICA.|MSH|N|
C0023890|A chronic disorder of the liver in which liver tissue becomes scarred and is partially replaced by regenerative nodules and fibrotic tissue resulting in loss of liver function.|HPO|N|
C0023891|A disorder of the liver characterized by the presence of fibrotic scar tissue instead of healthy liver tissue. This condition is attributed to excessive consumption of alcoholic beverages.|NCI|N|
C0023892|Progressive destruction of the small-to-medium bile ducts of the intrahepatic biliary tree, which leads to progressive cholestasis and often end-stage liver disease.|HPO|N|
C0023895|A non-neoplastic or neoplastic disorder that affects the liver parenchyma and intrahepatic bile ducts. Representative examples of non-neoplastic disorders include hepatitis, cirrhosis, cholangitis, and polycystic liver disease. Representative examples of neoplastic disorders include hepatocellular adenoma, hepatocellular carcinoma, intrahepatic cholangiocarcinoma, lymphoma, and angiosarcoma.|NCI|N|
C0023896|A disorder caused by damage to the liver parenchyma due to alcohol consumption. It may present with an acute onset or follow a chronic course, leading to cirrhosis.|NCI|N|
C0023897|Liver diseases caused by infections with PARASITES, such as tapeworms (CESTODA) and flukes (TREMATODA).|MSH|N|
C0023903|A tumor (abnormal growth of tissue) of the liver.|HPO|N|
C0023904|Experimentally induced tumors of the LIVER.|MSH|N|
C0023931|COL1A1/2 osteogenesis imperfecta (COL1A1/2-OI) is characterized by fractures with minimal or absent trauma, variable dentinogenesis imperfecta (DI), and, in adult years, hearing loss. The clinical features of COL1A1/2-OI represent a continuum ranging from perinatal lethality to individuals with severe skeletal deformities, mobility impairments, and very short stature to nearly asymptomatic individuals with a mild predisposition to fractures, normal dentition, normal stature, and normal life span. Fractures can occur in any bone but are most common in the extremities. DI is characterized by gray or brown teeth that may appear translucent, wear down, and break easily. COL1A1/2-OI has been classified into four types based on clinical presentation and radiographic findings. This classification system can be helpful in providing information about prognosis and management for a given individual. The four more common OI types are now referred to as follows: Classic non-deforming OI with blue sclerae (previously OI type I). Perinatally lethal OI (previously OI type II). Progressively deforming OI (previously OI type III). Common variable OI with normal sclerae (previously OI type IV).|GeneReviews|N|
C0023944|Locked-in syndrome (LIS) is a neurological condition characterized by the presence of sustained eye opening, quadriplegia or quadriparesis, anarthria, preserved cognitive functioning and a primary code of communication that uses vertical eye movements or blinking.|ORDO|N|
C0023968|Loiasis is a form of filariasis (see this term), caused by the parasitic worm <i>Loa loa</i>, endemic to the forest and savannah regions of Central and Western Africa. Loiasis may either be asymptomatic or manifest as a large, transient area of localized, non-erythematous subcutaneous edema (Calabar swellings), adult worm migration through the sub-conjunctiva (''African eye worm'') and pruritus. Generalized itching, hives, muscle pains, arthralgias, fatigue, and adult worms visibly migrating under the surface of the skin may be observed. Severe complications such as encephalopathy have been reported in highly infected individuals receiving ivermectin during mass drug administration programs for the control of onchocerciasis and lymphatic filariasis (see these terms).|ORDO|N|
C0023974|Sadness resulting from being isolated or alone.|NCI|N|
C0023976|Long QT syndrome (LQTS) is a cardiac electrophysiologic disorder, characterized by QT prolongation and T-wave abnormalities on the EKG that are associated with tachyarrhythmias, typically the ventricular tachycardia torsade de pointes (TdP). TdP is usually self-terminating, thus causing a syncopal event, the most common symptom in individuals with LQTS. Such cardiac events typically occur during exercise and emotional stress, less frequently during sleep, and usually without warning. In some instances, TdP degenerates to ventricular fibrillation and causes aborted cardiac arrest (if the individual is defibrillated) or sudden death. Approximately 50% of untreated individuals with a pathogenic variant in one of the genes associated with LQTS have symptoms, usually one to a few syncopal events. While cardiac events may occur from infancy through middle age, they are most common from the preteen years through the 20s. Some types of LQTS are associated with a phenotype extending beyond cardiac arrhythmia. In addition to the prolonged QT interval, associations include muscle weakness and facial dysmorphism in Andersen-Tawil syndrome (LQTS type 7); hand/foot, facial, and neurodevelopmental features in Timothy syndrome (LQTS type 8); and profound sensorineural hearing loss in Jervell and Lange-Nielson syndrome.|GeneReviews|N|
C0024003|Abnormally increased curvature (anterior concavity) of the lumbar or cervical spine.|HPO|N|
C0024025|An acute tick-borne arbovirus infection causing meningoencephalomyelitis of sheep.|MSH|N|
C0024031|An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the lower back.|HPO|N|
C0024032|A birth weight that is less than 2500 grams.|NCI|N|
C0024043|Reduced serum concentration of tri-iodothyronine caused by a variety of non-thyroidal conditions in which there is no dysfunction in the thyroid gland or the hypothalamic-pituitary axis.|NCI|N|
C0024050|Bleeding from the lower gastrointestinal tract (small intestine, large intestine, and anus).|NCI|N|
C0024081|Severe cellulitis of the submaxillary space with secondary involvement of the sublingual and submental space. It usually results from infection in the lower molar area or from a penetrating injury to the mouth floor. (From Dorland, 27th ed)|MONDO|N|
C0024103|A breast lump is any discrete mass in a breast noticed by the patient, significant other, or physician.|HPO|N|
C0024106|A poxvirus infection of cattle characterized by the appearance of nodules on all parts of the skin.|MONDO|N|
C0024110|A circumscribed area of pus or necrotic debris in lung parenchyma, which leads to a cavity, and after formation of bronchopulmonary fistula, can manifest as an air-fluid level inside the cavity.|HPO|N|
C0024115|A non-neoplastic or neoplastic disorder affecting the lung. Representative examples of non-neoplastic disorders include chronic obstructive pulmonary disease and pneumonia. Representative examples of neoplastic disorders include benign processes (e.g., respiratory papilloma) and malignant processes (e.g., lung carcinoma and metastatic cancer to the lung).|NCI|N|
C0024116|Pulmonary diseases caused by fungal infections, usually through hematogenous spread.|MONDO|N|
C0024117|Chronic obstructive pulmonary disease (COPD) is a common, complex disorder associated with substantial morbidity and mortality. COPD is defined by irreversible airflow obstruction due to chronic bronchitis, emphysema, and/or small airways disease. Airflow obstruction is typically determined by reductions in quantitative spirometric indices, including forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (FVC) (Silverman et al., 2002; Celedon et al., 2004).|OMIM|N|
C0024118|Infections of the lungs with parasites, most commonly by parasitic worms (HELMINTHS).|MSH|N|
C0024121|Tumor of the lung.|HPO|N|
C0024131|A form of cutaneous tuberculosis. It is seen predominantly in women and typically involves the nasal mucosa; buccal mucosa; and conjunctival mucosa.|MONDO|N|
C0024137|Disease of skin in someone with Lupus erythematosus, though not necessarily systemic or subacute.|SNOMEDCT_US|N|
C0024138|A chronic, autoimmune skin condition that manifests with a red, scaling rash, most often found on the face, ears, and scalp; these lesions often lead to permanent scarring and dyspigmentation. Patients may have lesions with or without other symptoms or antibodies suggestive of systemic lupus erythematosus (SLE).|NCI|N|
C0024140|A form of cutaneous lupus erythematosus (CLE) that can present either as a non-scarring, annular photo-distributed dermatosis or psoriasiform plaques. This disorder is associated with anti-Ro/SSA antibodies and can be drug-induced.|ORDO|N|
C0024141|Systemic lupus erythematosus (SLE) is a complex autoimmune disease characterized by production of autoantibodies against nuclear, cytoplasmic, and cell surface molecules that transcend organ-specific boundaries. Tissue deposition of antibodies or immune complexes induces inflammation and subsequent injury of multiple organs and finally results in clinical manifestations of SLE, including glomerulonephritis, dermatitis, thrombosis, vasculitis, seizures, and arthritis. Evidence strongly suggests the involvement of genetic components in SLE susceptibility (summary by Oishi et al., 2008).
Genetic Heterogeneity of Systemic Lupus Erythematosus
An autosomal recessive form of systemic lupus erythematosus (SLEB16; 614420) is caused by mutation in the DNASE1L3 gene (602244) on chromosome 3p14.3. An X-linked dominant form of SLE (SLEB17; 301080) is caused by heterozygous mutation in the TLR7 gene (300365) on chromosome Xp22.
See MAPPING and MOLECULAR GENETICS sections for a discussion of genetic heterogeneity of susceptibility to SLE.|OMIM|N|
C0024143|Lupus nephritis is a type of glomerulonephritis that constitutes one of the most severe organ manifestations of systemic lupus erythematosus. Lupus nephritis is subclassified in six distinct classes, that represent different manifestations and severities of renal involvement and guide the therapeutic management.|HPO|N|
C0024145|Chilblain lupus is a cutaneous form of systemic lupus erythematosus (SLE; 152700) characterized by the appearance of painful bluish-red papular or nodular lesions of the skin in acral locations (including the dorsal aspects of fingers and toes, heels, nose, cheeks, ears, and, in some cases, knees) precipitated by cold and wet exposure (summary by Lee-Kirsch et al., 2006).
Genetic Heterogeneity of Chilblain Lupus
See also CHBL2 (614415), caused by mutation in the SAMHD1 gene (606754) on chromosome 20q11.
Mutations in the TREX1 and SAMHD1 genes also cause Aicardi-Goutieres syndrome (AGS1, 225750 and AGS5, 612952, respectively).|OMIM|N|
C0024164|A condition characterized by a combination of ostium secundum atrial septal defect and an acquired mitral valve stenosis.|MONDO|N|
C0024167|A benign ovarian stromal tumor in which more than 90% of the tumor cells resemble steroid hormone-secreting cells. Crystals of Reinke are not present. It occurs in post-menopausal women and it is usually associated with estrogenic effects.|NCI|N|
C0024171|A complex blood group system having pairs of alternate antigens and amorphic genes, but also subject to a dominant independently segregating repressor.|MSH|N|
C0024198|Lyme disease (named after the towns in the USA where the disease was first identified) is a bacterial infection caused by <i>Borrelia burgdorferi</i>.|ORDO|N|
C0024205|Inflammation of a lymph node.|HPO|N|
C0024214|Dilation of the lymphatic vessels, the basic process that may result in the formation of a lymphangioma.|HPO|N|
C0024215|Angiectasia of lymph vessels (i.e., dilatation of lymphatic vessels) in the intestines.|HPO|N|
C0024217|A lymphangioma characterized by the presence of collagen bundle formation. It has an indolent clinical course and may be associated with skin plaques.|NCI|N|
C0024221|Lymphangiomas are rare congenital malformations consisting of focal proliferations of well-differentiated lymphatic tissue in multi cystic or sponge like structures. Lymphangioma is usually asymptomatic due to its soft consistency but compression of adjacent structures can be seen due to the mass effect of a large tumor.|HPO|N|
C0024223|A neoplasm with perivascular epithelioid cell differentiation, often associated with tuberous sclerosis. It is characterized by the presence of smooth muscle and epithelioid cells and by the proliferation of lymphatic vessels. Sites of involvement include the lymph nodes, lung, mediastinum, and retroperitoneum.|NCI|N|
C0024224|A malignant neoplasm arising from the endothelial cells of the lymphatic vessels.|HPO|N|
C0024225|Inflammation of the lymphatic vessels.|NCI|N|
C0024228|A disease or disorder that involves the lymphoid system.|MONDO|N|
C0024232|Transfer of a neoplasm from its primary site to lymph nodes or to distant parts of the body by way of the lymphatic system.|MSH|N|
C0024236|Localized fluid retention and tissue swelling caused by a compromised lymphatic system.|HPO|N|
C0024248|A cystic lesion containing lymph. It usually results from injury, gynecologic surgery, or urologic surgery.|NCI|N|
C0024266|Meningitis in which lymphocytes predominate in the cerebrospinal fluid.|NCI|N|
C0024282|Increase in the number or proportion of lymphocytes in the blood.|HPO|N|
C0024286|Infection with the organism Mycobacterium.|NCI|N|
C0024291|A rare but potentially life-threatening disorder characterized by the proliferation of histiocytes and macrophages and phagocytosis of red blood cells, white blood cells, and platelets. It may be inherited or secondary, due to infections, autoimmune disorders, or underlying malignancies. Signs and symptoms include fever, lymphadenopathy, hepatomegaly, splenomegaly, and pancytopenia.|NCI|N|
C0024299|A cancer originating in lymphocytes and presenting as a solid tumor of lymhpoid cells.|HPO|N|
C0024301|An indolent B cell lymphoproliferative disorder of transformed follicular center B cells. Follicular lymphoma is characterized by diffuse lymphadenopathy, bone marrow involvement, splenomegaly and less commonly other extranodal sites of involvement.|HPO|N|
C0024302|A rare dendritic cell tumor characterized by a neoplasm composed of spindle to ovoid cells with phenotypic features similar to those of interdigitating dendritic cells. Solitary lymph node involvement is common, although extranodal localization (in particular skin and soft tissue) has also been reported. Patients usually present with an asymptomatic mass, sometimes with systemic symptoms such as fatigue, fever, and night sweats. Generalized lymphadenopathy, splenomegaly, or hepatomegaly may be seen in rare cases. The clinical course is generally aggressive.|ORDO|N|
C0024304|An antiquated term that refers to a lymphoma composed of a mixture of small and large lymphocytes.|NCI|N|
C0024305|A type of lymphoma characterized microscopically by the absence of multinucleated Reed-Sternberg cells.|HPO|N|
C0024307|Lymphomatoid granulomatosis (LYG) is a very rare Epstein-Barr virus (EBV)-driven lymphoproliferative disease most commonly occurring in adults (in the fourth to sixth decade of life) and commonly affecting the lungs (with presentations varying from small bilateral pulmonary nodules to large necrotic and sometimes cavitating lesions), skin, central nervous system, and kidneys, but only very rarely affecting the lymph nodes and spleen. The symptoms associated with LYG depend on the site of disease involvement but mainly include cough, dyspnea or chest pain (in those with pulmonary involvement) and constitutional symptoms such as weight loss and fever.|ORDO|N|
C0024312|A reduced number of lymphocytes in the blood.|HPO|N|
C0024314|A disorder characterized by proliferation of lymphocytes at various stages of differentiation. Lymphoproliferative disorders can be neoplastic (clonal, as in lymphomas and leukemias) or reactive (polyclonal, as in infectious mononucleosis).|NCI|N|
C0024348|Tissue structure disintegration and destruction due to action of endogenous or/and exogenous lytic substances which include but not limited to naturally occurring or laboratory designed proteolytic enzymes, glycosidases, detergents, pore-forming proteins, immune complexes, etc. Tissue lysis plays role in pathogenesis of a number of conditions e.g. protozoal infections, ischemic tissue injury, and autoimmune disorders. It is also used as a basis for non-surgical treatment modality to remove or minimize presence of abnormal tissue, e.g. adhesions.|NCI|N|
C0024408|Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease (MJD), is characterized by progressive cerebellar ataxia and variable findings including pyramidal signs, a dystonic-rigid extrapyramidal syndrome, significant peripheral amyotrophy and generalized areflexia, progressive external ophthalmoplegia, action-induced facial and lingual fasciculations, and bulging eyes. Neurologic findings tend to evolve as the disorder progresses.|GeneReviews|N|
C0024419|Waldenström macroglobulinemia (WM) is an indolent B-cell lymphoproliferative disorder characterized by the accumulation of monoclonal cells in the bone marrow and peripheral lymphoid tissues, and associated with the production of serum immunoglobulin M (IgM) monoclonal protein.|ORDO|N|
C0024421|Increased length and width of the tongue.|HPO|N|
C0024433|Distance between the oral commissures more than 2 SD above the mean. Alternatively, an apparently increased width of the oral aperture (subjective).|HPO|N|
C0024437|A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells of the macula lutea.|HPO|N|
C0024440|Dominant cystoid macular dystrophy (DCMD) is a progressive retinal dystrophy characterized primarily by early-onset cystoid fluid collections in the neuroretina (summary by Saksens et al., 2015).|OMIM|N|
C0024441|A macular hole is a small break in the macula, located in the center of the retina.|HPO|N|
C0024449|Subcutaneous inflammatory pseudotumors containing fungal or actinomycetic (bacteria with branched filaments) granules or grains.|ORDO|N|
C0024454|Enchondromas are common benign cartilage tumors of bone. They can occur as solitary lesions or as multiple lesions in enchondromatosis. When hemangiomata are associated, the condition is known as Maffucci syndrome. Clinical problems caused by enchondromas include skeletal deformity and the potential for malignant change to osteosarcoma (Schwartz et al., 1987).
Classification of the Enchondromatoses
In their classification of the enchondromatoses, Spranger et al. (1978) called Ollier disease (166000) and Maffucci syndrome types I and II enchondromatosis, respectively; metachondromatosis (156250), type III; and spondyloenchondrodysplasia (607944), type IV; enchondromatosis with irregular vertebral lesions, type V; and generalized enchondromatosis, type VI. Halal and Azouz (1991) added 3 tentative categories to the 6 in the classification of Spranger et al. (1978).
Pansuriya et al. (2010) suggested a new classification of enchondromatosis (multiple enchondromas).|OMIM|N|
C0024473|A nutritional condition produced by a deficiency of magnesium in the diet, characterized by anorexia, nausea, vomiting, lethargy, and weakness. Symptoms are paresthesias, muscle cramps, irritability, decreased attention span, and mental confusion, possibly requiring months to appear. Deficiency of body magnesium can exist even when serum values are normal. In addition, magnesium deficiency may be organ-selective, since certain tissues become deficient before others. (Harrison's Principles of Internal Medicine, 12th ed, p1936)|MONDO|N|
C0024507|Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013).
There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, 218330).
For a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 (208500).|OMIM|N|
C0024517|An episode of depression lasting two or more weeks without an intervening episode of mania.|NCI|N|
C0024523|A syndrome resulting from the inadequate absorption of nutrients in the small intestine. Symptoms include abdominal pain, bloating, and diarrhea.|NCI|N|
C0024525|A chronic multisystem granulomatous inflammatory disease with manifestation of single or multiple soft plaques on various organs of the body. Can occur in all ages, with a mean age at diagnosis of 50 years old and a female predominance. Cases in children are rare. It is most common in immunodeficient patients with a history of diabetes, transplantation, lymphoma, steroid therapy or alcoholism. Seems to be due to an impaired response to bacterial infection.|SNOMEDCT_US|N|
C0024530|A life-threatening parasitic disease caused by <i>Plasmodium</i> (<i>P. </i>) parasites that are transmitted by <i>Anophles</i> mosquito bites to humans and is typically clinically characterized by attacks of fever, headache, chills and vomiting.|ORDO|N|
C0024533|Any of a group of infections of fowl caused by protozoa of the genera PLASMODIUM, Leucocytozoon, and Haemoproteus. The life cycles of these parasites and the disease produced bears strong resemblance to those observed in human malaria.|MSH|N|
C0024534|A sequestration of Plasmodium falciparum in the brain, which can cause coma and/or seizures.|NCI|N|
C0024535|Malaria resulting from infection by Plasmodium falciparum.|NCI|N|
C0024536|Malaria resulting from infection by Plasmodium malariae.|NCI|N|
C0024537|Malaria resulting from infection by Plasmodium vivax.|NCI|N|
C0024586|A rare neoplastic disease characterized by the occurrence of a hormonal syndrome resulting from secretion of humoral factors (including polypeptides, vasoactive amines, and prostaglandins) from a functional neuroendocrine tumor (particularly from the midgut), typically manifesting with increased bowel movements and diarrhea, episodic vasoactive flushes (particularly of the face), hypotension, tachycardia, venous telangiectasia, dyspnea, and bronchospasms, as well as long-term fibrotic changes in the mesentery, retroperitoneum, and of the cardiac valves.|ORDO|N|
C0024588|Essential hypertension with rapid progression to severe high blood pressure, papilledema, and renal failure.|NCI|N|
C0024591|Malignant hyperthermia susceptibility (MHS) is a pharmacogenetic disorder of skeletal muscle calcium regulation associated with uncontrolled skeletal muscle hypermetabolism. Manifestations of malignant hyperthermia (MH) are precipitated by certain volatile anesthetics (i.e., halothane, isoflurane, sevoflurane, desflurane, enflurane), either alone or in conjunction with a depolarizing muscle relaxant (specifically, succinylcholine). The triggering substances cause uncontrolled release of calcium from the sarcoplasmic reticulum and may promote entry of extracellular calcium into the myoplasm, causing contracture of skeletal muscles, glycogenolysis, and increased cellular metabolism, resulting in production of heat and excess lactate. Affected individuals experience acidosis, hypercapnia, tachycardia, hyperthermia, muscle rigidity, compartment syndrome, rhabdomyolysis with subsequent increase in serum creatine kinase (CK) concentration, hyperkalemia with a risk for cardiac arrhythmia or even cardiac arrest, and myoglobinuria with a risk for renal failure. In nearly all cases, the first manifestations of MH (tachycardia and tachypnea) occur in the operating room; however, MH may also occur in the early postoperative period. There is mounting evidence that some individuals with MHS will also develop MH with exercise and/or on exposure to hot environments. Without proper and prompt treatment with dantrolene sodium, mortality is extremely high.|GeneReviews|N|
C0024620|An epithelial or non-epithelial malignant neoplasm that arises from the liver. Representative examples include hepatocellular carcinoma, intrahepatic cholangiocarcinoma, lymphoma, and sarcoma.|NCI|N|
C0024622|A primary or metastatic malignant neoplasm that affects the retina.|NCI|N|
C0024623|In a review article on the genetic predisposition to gastric cancer, Bevan and Houlston (1999) concluded that several genes may be associated with an increased risk of gastric cancer.
Gastric cancer is a manifestation of a number of inherited cancer predisposition syndromes, including hereditary nonpolyposis colon cancer (HNPCC1; see 120435), familial adenomatous polyposis (FAP; 175100), Peutz-Jeghers syndrome (PJS; 175200), Cowden disease (CD; 158350), the Li-Fraumeni syndrome (151623), and diffuse gastric and lobular breast cancer syndrome (DGLBC; 137215).
Canedo et al. (2007) provided a review of genetic susceptibility to gastric cancer in patients infected with Helicobacter pylori (see 600263).|OMIM|N|
C0024633|Vomiting-induced mucosal laceration at the esophago-gastric junction.|HPO|N|
C0024636|Dental malocclusion refers to an abnormality of the occlusion, or alignment, of the teeth and the way the upper and lower teeth fit together, resulting in overcrowding of teeth or in abnormal bite patterns.|HPO|N|
C0024649|Any anatomical misplacement of the heart and cardiac apex such that the organ occupies an unusual location within the body.|NCI|N|
C0024667|Tumors or cancer of the MAMMARY GLAND in animals (MAMMARY GLANDS, ANIMAL).|MSH|N|
C0024668|Experimentally induced mammary neoplasms in animals to provide a model for studying human BREAST NEOPLASMS.|MSH|N|
C0024689|Diseases involving the MANDIBLE.|MSH|N|
C0024692|A partial or complete breakage of the mandible.|HPO|N|
C0024694|Tumors or cancer of the MANDIBLE.|MSH|N|
C0024713|The manic phase of bipolar disorder.|NCI|N|
C0024748|Alpha-mannosidosis encompasses a continuum of clinical findings from mild to severe. Three major clinical subtypes have been suggested: A mild form recognized after age ten years with absence of skeletal abnormalities, myopathy, and slow progression (type 1). A moderate form recognized before age ten years with presence of skeletal abnormalities, myopathy, and slow progression (type 2). A severe form manifested as prenatal loss or early death from progressive central nervous system involvement or infection (type 3). Individuals with a milder phenotype have mild-to-moderate intellectual disability, impaired hearing, characteristic coarse features, clinical or radiographic skeletal abnormalities, immunodeficiency, and primary central nervous system disease – mainly cerebellar involvement causing ataxia. Periods of psychiatric symptoms are common. Associated medical problems can include corneal opacities, hepatosplenomegaly, aseptic destructive arthritis, and metabolic myopathy. Alpha-mannosidosis is insidiously progressive; some individuals may live into the sixth decade.|GeneReviews|N|
C0024759|A form of filariasis, distributed throughout sub-Saharan Africa as well as in some locations of Central and South America and the Caribbean, caused by the parasitic worms <i>Mansonella perstans</i> and <i>Mansonella ozzardi</i>. The disease is often asymptomatic but may also cause fever, vertigo, myalgias, arthralgias and a sensation of coldness in the legs. Additional features include neuropsychiatric symptoms, skin rash, pruritus, nodules containing adult worms (in the conjunctiva or eyelids), lymphadenopathy, recurrent lymphedema in the limbs and face (resembling the Calabar swellings of loasis), severe abdominal pain and endocrine disturbances.|ORDO|N|
C0024776|Maple syrup urine disease (MSUD) is categorized as classic (severe), intermediate, or intermittent. Neonates with classic MSUD are born asymptomatic but without treatment follow a predictable course: 12–24 hours. Elevated concentrations of branched-chain amino acids (BCAAs; leucine, isoleucine, and valine) and alloisoleucine, as well as a generalized disturbance of amino acid concentration ratios, are present in blood and the maple syrup odor can be detected in cerumen; Two to three days. Early and nonspecific signs of metabolic intoxication (i.e., irritability, hypersomnolence, anorexia) are accompanied by the presence of branched-chain alpha-ketoacids, acetoacetate, and beta-hydroxybutyrate in urine; Four to six days. Worsening encephalopathy manifests as lethargy, apnea, opisthotonos, and reflexive "fencing" or "bicycling" movements as the sweet maple syrup odor becomes apparent in urine; Seven to ten days. Severe intoxication culminates in critical cerebral edema, coma, and central respiratory failure. Individuals with intermediate MSUD have partial branched-chain alpha-ketoacid dehydrogenase deficiency that manifests only intermittently or responds to dietary thiamine therapy; these individuals can experience severe metabolic intoxication and encephalopathy in the face of sufficient catabolic stress. In the era of newborn screening (NBS), the prompt initiation of treatment of asymptomatic infants detected by NBS means that most individuals who would have developed neonatal manifestations of MSUD remain asymptomatic with continued treatment compliance.|GeneReviews|N|
C0024788|Marburg hemorrhagic fever (MHF), caused by Marburg virus, is a severe viral hemorrhagic disease characterized by initial fever and malaise followed by gastrointestinal symptoms, bleeding, shock, and multi-organ system failure.|ORDO|N|
C0024790|Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired (not inherited) disorder that leads to the premature death and impaired production of blood cells. The disorder affects red blood cells (erythrocytes), which carry oxygen; white blood cells (leukocytes), which protect the body from infections; and platelets (thrombocytes), which are involved in blood clotting. PNH can occur at any age, although it is most often diagnosed in young adulthood.\n\nPeople with PNH have sudden, recurring episodes of symptoms (paroxysmal symptoms), which may be triggered by stresses on the body, such as infections or physical exertion. During these episodes, red blood cells are broken down earlier than they should be (hemolysis). Affected individuals may pass dark-colored urine because of the presence of hemoglobin, the oxygen-carrying protein in blood. The abnormal presence of hemoglobin in the urine is called hemoglobinuria. In many, but not all cases, hemoglobinuria is most noticeable early in the morning, upon passing urine that has accumulated in the bladder during the night (nocturnal).\n\nThe premature breakdown of red blood cells results in a shortage of these cells in the blood (hemolytic anemia), which can cause signs and symptoms such as fatigue, weakness, abnormally pale skin (pallor), shortness of breath, and an increased heart rate (tachycardia). People with PNH may also be prone to infections because of a shortage of white blood cells (leukopenia).\n\nAbnormal platelets associated with PNH can cause problems in the blood clotting process. As a result, people with this disorder may experience abnormal blood clotting (thrombosis), especially in large abdominal veins; or, less often, episodes of severe bleeding (hemorrhage).\n\nIndividuals with PNH are at increased risk of developing cancer in blood-forming cells (leukemia). In some cases, people who have or have been treated for another blood disease called aplastic anemia may develop PNH. In a small number of affected individuals, the signs and symptoms of PNH disappear on their own.\n\nA very rare form of PNH involves abnormal inflammation in addition to the typical features described above. Inflammation is a normal immune system response to injury and foreign invaders (such as bacteria). In people with this rare form of PNH, the immune response is turned on (activated) abnormally and can cause recurrent aseptic meningitis (which is inflammation of the membranes surrounding the brain and spinal cord that is not related to infection); a red, itchy rash (known as hives or urticaria); joint pain (arthralgia); or inflammatory bowel disease. The inflammatory disorders usually begin earlier than the blood cell problems.|MedlinePlus Genetics|N|
C0024793|A viral infection in chickens caused by the herpes virus. It is characterized by tissue lymphocytic infiltration, limb paralysis and development of tumors.|NCI|N|
C0024796|FBN1-related Marfan syndrome (Marfan syndrome), a systemic disorder of connective tissue with a high degree of clinical variability, comprises a broad phenotypic continuum ranging from mild (features of Marfan syndrome in one or a few systems) to severe and rapidly progressive neonatal multiorgan disease. Cardinal manifestations involve the ocular, skeletal, and cardiovascular systems. Ocular findings include myopia (>50% of affected individuals); ectopia lentis (seen in approximately 60% of affected individuals); and an increased risk for retinal detachment, glaucoma, and early cataracts. Skeletal system manifestations include bone overgrowth and joint laxity; disproportionately long extremities for the size of the trunk (dolichostenomelia); overgrowth of the ribs that can push the sternum in (pectus excavatum) or out (pectus carinatum); and scoliosis that ranges from mild to severe and progressive. The major morbidity and early mortality in Marfan syndrome relate to the cardiovascular system and include dilatation of the aorta at the level of the sinuses of Valsalva (predisposing to aortic tear and rupture), mitral valve prolapse with or without regurgitation, tricuspid valve prolapse, and enlargement of the proximal pulmonary artery. Severe and prolonged regurgitation of the mitral and/or aortic valve can predispose to left ventricular dysfunction and occasionally heart failure. With proper management, the life expectancy of someone with Marfan syndrome approximates that of the general population.|GeneReviews|N|
C0024799|An ulcer that develops in the jejunal mucosa close to the anastomosis site following a gastroenterostomy procedure.|NCI|N|
C0024809|Use of marijuana associated with abnormal psychological, social, and or occupational functioning.|MSH|N|
C0024814|Marinesco-Sjögren syndrome (MSS) is characterized by cerebellar ataxia with cerebellar atrophy, dysarthria, nystagmus, early-onset (not necessarily congenital) cataracts, myopathy, muscle weakness, and hypotonia. Additional features may include psychomotor delay, hypergonadotropic hypogonadism, short stature, and various skeletal abnormalities. Children with MSS usually present with muscular hypotonia in early infancy; distal and proximal muscular weakness is noticed during the first decade of life. Later, cerebellar findings of truncal ataxia, dysdiadochokinesia, nystagmus, and dysarthria become apparent. Motor function worsens progressively for some years, then stabilizes at an unpredictable age and degree of severity. Cataracts can develop rapidly and typically require lens extraction in the first decade of life. Although many adults have severe disabilities, life span in MSS appears to be near normal.|GeneReviews|N|
C0024819|A demographic parameter indicating a person''s current conjugal status.|NCI|N|
C0024841|The social institution involving legal and/or religious sanction whereby men and women are joined together for the purpose of founding a family unit; the state of being a married couple.|NCI|N|
C0024862|Pleasure derived from being physically or psychologically abused, whether inflicted by oneself or by others. Masochism includes sexual masochism.|MSH|N|
C0024894|Mastitis is defined as an inflammation of the breast and may or may not be accompanied by infection.|HPO|N|
C0024895|INFLAMMATION of the UDDER in cows.|MSH|N|
C0024897|A localized tumor composed of sheets of mast cells without atypia. It includes the cutaneous mastocytoma which involves the dermis and subcutaneous tissue, and the extracutaneous mastocytoma. Most cases of extracutaneous mastocytoma have been reported in the lung.|NCI|N|
C0024899|The presence of an increased number of mast cells and CD34+ mast cell precursors in the body.|HPO|N|
C0024900|A form of cutaneous mastocytosis that is characterized by the large fluid-filled lesions.|MSH|N|
C0024901|Diffuse cutaneous mastocytosis (DCM) is a rare form of cutaneous mastocytosis (CM; see this term) characterized by generalized erythroderma, various degrees of blistering, skin with a ''peau d'orange'' appearance and the accumulation of mast cells in the skin. At least two DCM variants are recognized, one with extreme blistering (Bullous DCM; see this term) and one with infiltrations (Pseudoxanthomatous DCM; see this term).|ORDO|N|
C0024902|Pain in the breast.|HPO|N|
C0024904|Inflammation of the mucosal lining of the mastoid antrum and mastoid air cell system of the mastoid process.|NCI|N|
C0024950|Diseases involving the MAXILLA.|MSH|N|
C0024953|A partial or complete breakage of the maxilla.|HPO|N|
C0024954|Cancer or tumors of the maxilla or upper jaw.|MONDO|N|
C0024958|A benign or malignant neoplasm that affects the maxillary sinus. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma.|NCI|N|
C0024959|An acute or chronic inflammatory process affecting the mucous membrane of the maxillary sinus.|NCI|N|
C0024967|Measure of the maximum amount of air that can be breathed in and blown out over a sustained interval such as 15 or 20 seconds. Common abbreviations are MVV and MBC.|MSH|N|
C0025007|A highly contagious viral infection caused by the measles virus. Symptoms appear 8-12 days after exposure and include a rash, cough, fever and muscle pains that can last 4-7 days. Measles vaccines are available to provide prophylaxis, usually combined with mumps and rubella vaccines (MMR).|NCI|N|
C0025037|Meckel's diverticulum is a congenital diverticulum located in the distal ileum.|HPO|N|
C0025048|Meconium aspiration syndrome is a pulmonary complication appearing in newborns with a meconium-stained amniotic fluid. Aspirated meconium can interfere with normal breathing by several mechanisms including airway obstruction, chemical irritation, infection and surfactant inactivation and induces more or less severe signs of respiratory distress at birth.|ORDO|N|
C0025060|A fluid-filled, epithelium-lined cyst located in the mediastinum.|NCI|N|
C0025061|A non-neoplastic or neoplastic disorder that affects the structures of the mediastinum. Representative examples include mediastinitis, mediastinal lipoma, mediastinal schwannoma, thymoma, and mediastinal lymphoma.|NCI|N|
C0025062|The presence of free air in the mediastinum.|HPO|N|
C0025063|A benign or malignant neoplasm that affects the structures of the mediastinum. Representative examples include mediastinal lipoma, mediastinal schwannoma, thymoma, mediastinal germ cell tumor, and mediastinal lymphoma.|NCI|N|
C0025064|An inflammatory process affecting the mediastinum.|NCI|N|
C0025115|An error associated with the prescribing, dispensing, or giving/taking a medication by a healthcare professional, patient, or consumer that causes or leads to inappropriate medication use or patient harm.|NCI|N|
C0025149|Medulloblastoma is the most common brain tumor in children. It accounts for 16% of all pediatric brain tumors, and 40% of all cerebellar tumors in childhood are medulloblastoma. Medulloblastoma occurs bimodally, with peak incidences between 3 and 4 years and 8 and 9 years of age. Approximately 10 to 15% of medulloblastomas are diagnosed in infancy. Medulloblastoma accounts for less than 1% of central nervous system (CNS) tumors in adults, with highest incidence in adults 20 to 34 years of age. In 1 to 2% of patients, medulloblastoma is associated with Gorlin syndrome (109400), a nevoid basal carcinoma syndrome. Medulloblastoma also occurs in up to 40% of patients with Turcot syndrome (see 276300). Medulloblastoma is thought to arise from neural stem cell precursors in the granular cell layer of the cerebellum. Standard treatment includes surgery, chemotherapy, and, depending on the age of the patient, radiation therapy (Crawford et al., 2007).
Millard and De Braganca (2016) reviewed the histopathologic variants and molecular subgroups of medulloblastoma. Pretreatment prognosis of medulloblastoma has been refined by histopathologic subclassification into the following variants: large-cell medulloblastoma, anaplastic medulloblastoma, desmoplastic/nodular medulloblastoma, and medulloblastoma with extensive nodularity (MBEN). The latter 2 groups have been shown to have a significantly superior prognosis as compared to the large cell and anaplastic groups in young children. At the molecular level, medulloblastomas have been categorized into the following subgroups: wingless (WNT), sonic hedgehog (SHH), group 3, and group 4. Each subgroup is characterized by a unique set of genetics and gene expression as well as demographic and clinical features.|OMIM|N|
C0025160|An abnormal dilation of the colon not due to obstruction.|NCI|N|
C0025162|An acute form of megacolon, severe pathological dilatation of the colon. It is associated with clinical conditions such as ulcerative colitis; crohn disease; amebic dysentery; or clostridium enterocolitis.|MONDO|N|
C0025164|An abnormal dilation of the esophagus not due to obstruction.|NCI|N|
C0025183|A focal dystonia involving symmetrical benign essential blepharospasm (BEB) and oromandibular dystonia.|ORDO|N|
C0025184|Meigs syndrome is a rare neoplastic disease characterized by the clinical triad of benign ovarian tumor (typically, ovarian fibroma or fibroma-like tumor), hydrothorax and ascites, which resolve after tumor resection. Patients usually present with dyspnea, pelvic mass with or without a tender, distended abdomen and/or weight loss.|ORDO|N|
C0025193|A subtype of depression characterized by the inability to find pleasure in positive things combined with physical agitation, insomnia, or decreased appetite.|NCI|N|
C0025202|Melanoma is a type of skin cancer that begins in pigment-producing cells called melanocytes. This cancer typically occurs in areas that are only occasionally sun-exposed; tumors are most commonly found on the back in men and on the legs in women. Melanoma usually occurs on the skin (cutaneous melanoma), but in about 5 percent of cases it develops in melanocytes in other tissues, including the eyes (uveal melanoma) or mucous membranes that line the body's cavities, such as the moist lining of the mouth (mucosal melanoma). Melanoma can develop at any age, but it most frequently occurs in people in their fifties to seventies and is becoming more common in teenagers and young adults.\n\nA large number of moles or other pigmented skin growths on the body, generally more than 25, is associated with an increased risk of developing melanoma. Melanoma is also a common feature of genetic syndromes affecting the skin such as xeroderma pigmentosum. Additionally, individuals who have previously had melanoma are nearly nine times more likely than the general population to develop melanoma again. It is estimated that about 90 percent of individuals with melanoma survive at least 5 years after being diagnosed.\n\nMelanoma may develop from an existing mole or other normal skin growth that becomes cancerous (malignant); however, many melanomas are new growths. Melanomas often have ragged edges and an irregular shape. They can range from a few millimeters to several centimeters across. They can also be a variety of colors: brown, black, red, pink, blue, or white.\n\nMost melanomas affect only the outermost layer of skin (the epidermis). If a melanoma becomes thicker and involves multiple layers of skin, it can spread to other parts of the body (metastasize).|MedlinePlus Genetics|N|
C0025205|Experimentally induced tumor that produces MELANIN in animals to provide a model for studying human MELANOMA.|MSH|N|
C0025209|Disorders of increased melanin pigmentation that develop without preceding inflammatory disease.|MSH|N|
C0025210|A congenital lesion of the sclera characterized by unilateral patchy but extensive slate-gray or bluish discoloration of the sclera . The conjunctiva are spared.|HPO|N|
C0025218|Symmetrical, blotchy, brownish facial pigmentation.|HPO|N|
C0025221|Mal de Meleda (MDM) is a rare autosomal recessive skin disorder characterized by transgressive palmoplantar keratoderma (PPK), keratotic skin lesions, perioral erythema, brachydactyly, and nail abnormalities (summary by Fischer et al., 2001).|OMIM|N|
C0025222|The passage of blackish, tarry feces associated with gastrointestinal hemorrhage. Melena occurs if the blood remains in the colon long enough for it to be broken down by colonic bacteria. One degradation product, hematin, imbues the stool with a blackish color. Thus, melena generally occurs with bleeding from the upper gastrointestinal tract (e.g., stomach ulcers or duodenal ulcers), since the blood usually remains in the gut for a longer period of time than with lower gastrointestinal bleeding.|HPO|N|
C0025229|A rare infectious disease caused by the Gram-negative bacillus <i>Burkholderia</i> (<i>pseudomonas</i>) <i>pseudomallei</i>, also called Whitmore bacillus. The infection can be acute, subacute, or chronic and affects the skin, the lungs, or the whole body.|ORDO|N|
C0025235|Melkersson-Rosenthal syndrome is characterized by chronic swelling of the face, peripheral facial palsy, which may be bilateral and may tend to relapse, and in some cases ligua plicata (fissured tongue). The swelling is localized especially to the lips. Onset is usually in childhood or adolescence (summary by Kunstadter, 1965).|OMIM|N|
C0025237|The X-linked otopalatodigital (X-OPD) spectrum disorders, characterized primarily by skeletal dysplasia, include the following: Otopalatodigital syndrome type 1 (OPD1). Otopalatodigital syndrome type 2 (OPD2). Frontometaphyseal dysplasia type 1 (FMD1). Melnick-Needles syndrome (MNS). Terminal osseous dysplasia with pigmentary skin defects (TODPD). In OPD1, most manifestations are present at birth; females can present with severity similar to affected males, although some have only mild manifestations. In OPD2, females are less severely affected than related affected males. Most males with OPD2 die during the first year of life, usually from thoracic hypoplasia resulting in pulmonary insufficiency. Males who live beyond the first year of life are usually developmentally delayed and require respiratory support and assistance with feeding. In FMD1, females are less severely affected than related affected males. Males do not experience a progressive skeletal dysplasia but may have joint contractures and hand and foot malformations. Progressive scoliosis is observed in both affected males and females. In MNS, wide phenotypic variability is observed; some individuals are diagnosed in adulthood, while others require respiratory support and have reduced longevity. MNS in males results in perinatal lethality in all recorded cases. TODPD, seen only in females, is characterized by a skeletal dysplasia that is most prominent in the digits, pigmentary defects of the skin, and recurrent digital fibromata.|GeneReviews|N|
C0025245|The motion of phospholipid molecules within the lipid bilayer, dependent on the classes of phospholipids present, their fatty acid composition and degree of unsaturation of the acyl chains, the cholesterol concentration, and temperature.|MSH|N|
C0025246|The adherence and merging of cell membranes, intracellular membranes, or artificial membranes to each other or to viruses, parasites, or interstitial particles through a variety of chemical and physical processes.|MSH|N|
C0025261|Disturbances in registering an impression, in the retention of an acquired impression, or in the recall of an impression. Memory impairments are associated with DEMENTIA; CRANIOCEREBRAL TRAUMA; ENCEPHALITIS; ALCOHOLISM (see also ALCOHOL AMNESTIC DISORDER); SCHIZOPHRENIA; and other conditions.|MSH|N|
C0025267|Multiple endocrine neoplasia type 1 (MEN1) includes varying combinations of more than 20 endocrine and non-endocrine tumors. Endocrine tumors become evident either by overproduction of hormones by the tumor or by growth of the tumor itself. Parathyroid tumors are the most common MEN1-associated endocrinopathy; onset in 90% of individuals is between ages 20 and 25 years with hypercalcemia evident by age 50 years; hypercalcemia causes lethargy, depression, confusion, anorexia, constipation, nausea, vomiting, diuresis, dehydration, hypercalciuria, kidney stones, increased bone resorption/fracture risk, hypertension, and shortened QT interval. Pituitary tumors include prolactinoma (the most common), which manifests as oligomenorrhea/amenorrhea and galactorrhea in females and sexual dysfunction in males. Well-differentiated endocrine tumors of the gastro-entero-pancreatic (GEP) tract can manifest as Zollinger-Ellison syndrome (gastrinoma); hypoglycemia (insulinoma); hyperglycemia, anorexia, glossitis, anemia, diarrhea, venous thrombosis, and skin rash (glucagonoma); and watery diarrhea, hypokalemia, and achlorhydria syndrome (vasoactive intestinal peptide [VIP]-secreting tumor). Carcinoid tumors are non-hormone-secreting and can manifest as a large mass after age 50 years. Adrenocortical tumors can be associated with primary hypercortisolism or hyperaldosteronism. Non-endocrine tumors include facial angiofibromas, collagenomas, lipomas, meningiomas, ependymomas, and leiomyomas.|GeneReviews|N|
C0025268|Multiple endocrine neoplasia type 2 (MEN2) includes the following phenotypes: MEN2A, FMTC (familial medullary thyroid carcinoma, which may be a variant of MEN2A), and MEN2B. All three phenotypes involve high risk for development of medullary carcinoma of the thyroid (MTC); MEN2A and MEN2B involve an increased risk for pheochromocytoma; MEN2A involves an increased risk for parathyroid adenoma or hyperplasia. Additional features in MEN2B include mucosal neuromas of the lips and tongue, distinctive facies with enlarged lips, ganglioneuromatosis of the gastrointestinal tract, and a marfanoid habitus. MTC typically occurs in early childhood in MEN2B, early adulthood in MEN2A, and middle age in FMTC.|GeneReviews|N|
C0025269|Multiple endocrine neoplasia type 2 (MEN2) includes the following phenotypes: MEN2A, FMTC (familial medullary thyroid carcinoma, which may be a variant of MEN2A), and MEN2B. All three phenotypes involve high risk for development of medullary carcinoma of the thyroid (MTC); MEN2A and MEN2B involve an increased risk for pheochromocytoma; MEN2A involves an increased risk for parathyroid adenoma or hyperplasia. Additional features in MEN2B include mucosal neuromas of the lips and tongue, distinctive facies with enlarged lips, ganglioneuromatosis of the gastrointestinal tract, and a marfanoid habitus. MTC typically occurs in early childhood in MEN2B, early adulthood in MEN2A, and middle age in FMTC.|GeneReviews|N|
C0025281|Meniere disease is a chronic illness characterized by intermittent episodes of vertigo lasting from minutes to hours, with fluctuating sensorineural hearing loss, tinnitus, and aural pressure (Sajjadi and Paparella, 2008).|OMIM|N|
C0025284|A benign or malignant neoplasm that affects the meninges. The majority of the neoplasms arise from meningothelial cells and are called meningiomas. Non-meningothelial cell neoplasms include mesenchymal, non-meningothelial tumors, hemangiopericytomas, and melanocytic lesions.|NCI|N|
C0025286|The presence of a meningioma, i.e., a benign tumor originating from the dura mater or arachnoid mater.|HPO|N|
C0025287|The triad of nuchal rigidity, photophobia and headache. Not the same as meningismus.|SNOMEDCT_US|N|
C0025289|Inflammation of the meninges.|HPO|N|
C0025290|Inflammation of the membranes surrounding the brain and spinal cord without a bacterial pathogen.|NCI|N|
C0025292|Infections of the nervous system caused by bacteria of the genus haemophilus, and marked by prominent inflammation of the meninges. haemophilus influenzae type B is the most common causative organism. The condition primarily affects children under 6 years of age but may occur in adults.|MONDO|N|
C0025293|Inflammation of the meninges caused by listeria monocytogenes infection, usually occurring in individuals under the age of 3 years or over the age of 50 years. It may occur at any age in individuals with immunologic deficiency syndromes. Clinical manifestations include fever, altered mentation, headache, meningeal signs, focal neurologic signs, and seizures. (From Medicine 1998 Sep;77(5):313-36)|MONDO|N|
C0025294|Meningococcal meningitis is an acute bacterial disease caused by <i>Neisseria meningitides</i> that presents usually, but not always, with a rash (non blanching petechial or purpuric rash), progressively developing signs of meningitis (fever, vomiting, headache, photophobia, and neck stiffness) and later leading to confusion, delirium and drowsiness. Neck stiffness and photophobia are often absent in infants and young children who may manifest nonspecific signs such as irritability, inconsolable crying, poor feeding, and a bulging fontanel. Meningococcal meningitis may also present as part of early or late onset sepsis in neonates. The disease is potentially fatal. Surviving patients may develop neurological sequelae that include sensorineural hearing loss, seizures, spasticity, attention deficits and intellectual disability.|ORDO|N|
C0025295|A rare infectious disease of the nervous system caused by the bacterium Streptococcus pneumoniae, which is commonly part of the bacterial flora colonizing the nasopharyngeal mucosa. The disease is clinically characterized by typical symptoms of acute leptomeningitis, like fever, headache, neck stiffness, vomiting, and clouding of consciousness. It is frequently fatal and, in surviving patients, often accompanied by long-term sequelae, especially focal neurological deficits, hearing loss, cognitive impairment, and epilepsy.|ORDO|N|
C0025297|Inflammation of the membranes surrounding the brain and spinal cord due to a viral infection.|NCI|N|
C0025299|Protrusion of the meninges through a defect of the skull or vertebral column.|HPO|N|
C0025303|Infections with bacteria of the species neisseria meningitidis.|MONDO|N|
C0025309|Inflammation of the meninges and brain, generally secondary to an infectious cause. Pathogens may be bacterial, viral, fungal, or protozoan.|NCI|N|
C0025312|Protrusion of the meninges and portions of the spinal cord through a defect of the vertebral column.|HPO|N|
C0025319|A grouping of variable physical, vasomotor and psychological symptoms in climacteric females. Physical symptoms include: cessation of menses, headaches, fatigue, weight gain and vaginal dryness. Vasomotor symptoms typically include: palpitations, hot flashes and night sweats. Psychological symptoms may include: decrease in libido, emotional lability, difficulty concentrating and insomnia.|NCI|N|
C0025322|Amenorrhea due to loss of ovarian function before the age of 40. Primary ovarian inssuficiency (POI) is a state of female hypergonadotropic hypogonadism. It can manifest as primary amenorrhea with onset before menarche or secondary amenorrhea.|HPO|N|
C0025323|Prolonged and excessive menses at regular intervals in excess of 80 mL or lasting longer than 7 days.|HPO|N|
C0025345|A category of conditions related to menses.|NCI|N|
C0025362|A developmental disorder characterized by less than average intelligence and significant limitations in adaptive behavior with onset before the age of 18.|NCI|N|
C0025363|Reversible mental retardation due to environmental and/or social factors with no organic etiological component.|PSY|N|
C0025464|A term describing a soft tissue tumor which consists of two or more mesenchymal lines of differentiation, excluding a fibroblastic line of differentiation.|NCI|N|
C0025467|A closed fluid filled sac originating from the mesentary.|HPO|N|
C0025469|Inflammation of the mesenteric lymph nodes.|NCI|N|
C0025470|Inflammation of the ADIPOSE TISSUE in the MESENTERY, a form of peritoneal panniculitis, It is characterized by the presence of MULTINUCLEATED GIANT CELLS and lipid-laden MACROPHAGES in the mesentery.|MSH|N|
C0025472|Obstruction of the flow in the splanchnic circulation by atherosclerosis; embolism; thrombosis; stenosis; trauma; and compression or intrinsic pressure from adjacent tumors. Rare causes are drugs, intestinal parasites, and vascular immunoinflammatory diseases such as periarteritis nodosa and thromboangiitis obliterans. (From Juergens et al., Peripheral Vascular Diseases, 5th ed, pp295-6)|MONDO|N|
C0025476|Migration of the teeth toward the midline or forward in the DENTAL ARCH. (From Boucher''s Clinical Dental Terminology, 4th ed)|MSH|N|
C0025490|An adenocarcinoma of the cervix or the vagina that derives from Wolffian duct remnants and shows mesonephric differentiation.|NCI|N|
C0025500|A usually malignant and aggressive neoplasm of the mesothelium which is often associated with exposure to asbestos.|MONDO|N|
C0025513|The conversion of an exogenous substance by a biological system resulting in the production on an active metabolite.|MSH|N|
C0025517|A congenital (due to inherited enzyme abnormality) or acquired (due to failure of a metabolic important organ) disorder resulting from an abnormal metabolic process.|NCI|N|
C0025521|A group of disorders present at birth that involve genetic defects leading to disturbances in carbohydrate, lipid, lysosomal storage or amino acid metabolism in the body.|NCI|N|
C0025530|An infection that is most commonly caused by the intestinal fluke Metagonimus yokogawai, which is most commonly found in the Far East, and which is transmitted via consumption of contaminated raw or undercooked fish. Symptoms typically range from asymptomatic to intermittent abdominal pain and diarrhea, with occasional ectopic infection.|NCI|N|
C0025534|An inherited metabolic disorder that involves metabolic disturbances in the processing or distribution of dietary minerals.|MONDO|N|
C0025568|Transformation of a mature, normal cell or groups of mature cells to other forms of mature cells. The capacity for malignant transformation of metaplastic cells is a subject of controversy.|NCI|N|
C0025570|A morphologic finding indicating the transformation of glandular or transitional epithelial cells to, usually, mature squamous epithelial cells. Representative examples include squamous metaplasia of bronchial epithelium, cervix, urinary bladder, and prostate gland.|NCI|N|
C0025587|Pain in the region of the METATARSUS. It can include pain in the METATARSAL BONES; METATARSOPHALANGEAL JOINT; and/or intermetatarsal joints (TARSAL JOINTS).|MSH|N|
C0025637|Abnormally increased levels of methemoglobin in the blood. In this form of hemoglobin, there is an oxidized ferric iron (Fe +3) rather than the reduced ferrous form (Fe 2+) that is normally found in hemoglobin. Methemoglobin has a reduced affinity for oxygen, resulting in a reduced ability to release oxygen to tissues.|HPO|N|
C0025723|The covalent chemical or biochemical addition of a methyl group(s) to a compound. (NCI)|NCI|N|
C0025874|Bleeding at irregular intervals.|HPO|N|
C0025958|A rare neurological disorder characterized by a reduced head circumference at birth with no gross anomalies of brain structure. It can be an isolated finding or it can be associated with seizures, developmental delay, intellectual disability, balance disturbances, hearing loss or vision problems.|ORDO|N|
C0025988|Decreased length and width of the tongue.|HPO|N|
C0025990|Developmental hypoplasia of the mandible.|HPO|N|
C0025995|The presence of abnormally small extremities.|HPO|N|
C0026004|A toxicology screening result where proliferating cells that are exposed to a genotoxic chemical produce some daughter cells containing cytoplasmic bodies that are comprised of chromosomes or chromosome fragments, which were not sorted properly during mitosis or meiosis, and are bounded by a nuclear membrane.|NCI|N|
C0026010|Microphthalmia is an eye abnormality that arises before birth. In this condition, one or both eyeballs are abnormally small. In some affected individuals, the eyeball may appear to be completely missing; however, even in these cases some remaining eye tissue is generally present. Such severe microphthalmia should be distinguished from another condition called anophthalmia, in which no eyeball forms at all. However, the terms anophthalmia and severe microphthalmia are often used interchangeably. Microphthalmia may or may not result in significant vision loss.\n\nPeople with microphthalmia may also have a condition called coloboma. Colobomas are missing pieces of tissue in structures that form the eye. They may appear as notches or gaps in the colored part of the eye called the iris; the retina, which is the specialized light-sensitive tissue that lines the back of the eye; the blood vessel layer under the retina called the choroid; or in the optic nerves, which carry information from the eyes to the brain. Colobomas may be present in one or both eyes and, depending on their size and location, can affect a person's vision.\n\nPeople with microphthalmia may also have other eye abnormalities, including clouding of the lens of the eye (cataract) and a narrowed opening of the eye (narrowed palpebral fissure). Additionally, affected individuals may have an abnormality called microcornea, in which the clear front covering of the eye (cornea) is small and abnormally curved.\n\nBetween one-third and one-half of affected individuals have microphthalmia as part of a syndrome that affects other organs and tissues in the body. These forms of the condition are described as syndromic. When microphthalmia occurs by itself, it is described as nonsyndromic or isolated.|MedlinePlus Genetics|N|
C0026034|Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective).|HPO|N|
C0026069|Atelectasis of the right middle pulmonary lobe, with chronic pneumonitis. (Dorland, 27th ed)|MONDO|N|
C0026103|IgG4-related dacryoadenitis and sialoadenitis (Mikulicz disease) is an IgG4-related sclerosing disease (see this term) characterized by persistent, usually painless, bilateral enlargement of the lacrimal, parotid, and submandibular glands associated with elevated levels of serum immunoglobulin (Ig) G4 and with lymphocyte and IgG4-positive plasmacyte infiltration. It predominantly causes mouth and eye dryness but can also affect other organs such as the lungs, liver, and kidneys, and be accompanied by complications such as autoimmune pancreatitis (AIP), retroperitoneal fibrosis, and tubulointerstitial nephritis (see these terms).|ORDO|N|
C0026106|Mild intellectual disability is defined as an intelligence quotient (IQ) in the range of 50-69.|HPO|N|
C0026113|A small (one mm or less) vesicular, papular or pustular monomorphous rash, which is associated with heat, fever or occlusion of sweat glands.|NCI|N|
C0026114|A miliaria that is characterized by pustules resulting from inflammation and bacterial infection.|MONDO|N|
C0026141|The ingestion of excessive calcium supplementation or calcium containing antacids, and alkali resulting in a triad of hypercalcemia, metabolic alkalosis, and renal insufficiency.|MONDO|N|
C0026143|Virus diseases caused by the poxviridae.|MONDO|N|
C0026205|Abnormal (non-physiological) constriction of the pupil.|HPO|N|
C0026229|Infestations with arthropods of the subclass acari, superorder Acariformes.|MONDO|N|
C0026244|The mitochondrial matrix refers to the substance occupying the space enclosed by the inner membrane of a mitochondrion, which contains enzymes, DNA, granules, and inclusions of protein crystals, glycogen, and lipid. Mitochondrial swelling refers to an increase in size of the mitochondrial matrix. This phenomenon is thought to be related to a permeabilized inner membrane that originates a large swelling in the mitochondrial matrix. Mitochondrial swelling may distend the outer membrane until it ruptures.|HPO|N|
C0026265|A heart disorder characterized by a defect in mitral valve structure or function.|NCI|N|
C0026266|An abnormality of the mitral valve characterized by insufficiency or incompetence of the mitral valve resulting in retrograde leaking of blood through the mitral valve upon ventricular contraction.|HPO|N|
C0026267|One or both of the leaflets (cusps) of the mitral valve bulges back into the left atrium upon contraction of the left ventricle.|HPO|N|
C0026269|An abnormal narrowing of the orifice of the mitral valve.|HPO|N|
C0026272|Mixed connective tissue disease (MCTD) is a rare connective tissue disorder combining clinical features of systemic lupus erythematosus (SLE), systemic sclerosis (SSc), polymyositis (PM) (see these terms) and/or rheumatoid arthritis (RA).|ORDO|N|
C0026277|A benign or malignant neoplasm that arises from the salivary glands. It is characterized by the presence of epithelial and mesenchymal elements. This category includes pleomorphic adenoma, carcinoma ex pleomorphic adenoma, and carcinosarcoma.|NCI|N|
C0026327|MN antigens reside on GYPA, one of the most abundant red-cell glycoproteins. The M and N antigens are 2 autosomal codominant antigens encoded by the first 5 amino acids of GYPA and include 3 O-linked glycans as part of the epitope. M and N differ at amino acids 1 and 5, where M is ser-ser-thr-thr-gly, and N is leu-ser-thr-thr-glu. M is the ancestral GYPA allele and is common in all human populations and Old World apes. GYPA, glycophorin B (GYPB; 617923), and glycophorin E (GYPE; 138590) are closely linked on chromosome 4q31. The N terminus of GYPB is essentially identical to that of GYPA except that it always expresses the N antigen, denoted 'N' or N-prime. Antigens of the Ss blood group (111740) reside on GYPB, and recombination and gene conversion between GYPA, GYPB, and GYPE lead to hybrid glycophorin molecules and generation of low-incidence antigens. Thus, the MN and Ss blood groups are together referred to as the MNSs or MNS blood group system. The U antigen refers to a short extracellular sequence in GYPB located near the membrane. Recombination results in 3 glycophorin-null phenotypes: En(a-) cells lack GYPA due to recombination between GYPA and GYPB; GYPB-negative (S-s-U-) cells lack GYPB due to recombination in GYPB; and M(k) cells (M-N-S-s-U-) lack both GYPA and GYPB due to recombination between GYPA and GYPE. Individuals with glycophorin-null phenotypes have decreased sialic acid content and increased resistance to malarial infection (see 611162). GYPA and GYPB are not essential for red-cell development or survival, and GYPA- and GYPB-null phenotypes are not associated with anemia or altered red-cell function (review by Cooling, 2015).|OMIM|N|
C0026351|Moderate mental retardation is defined as an intelligence quotient (IQ) in the range of 35-49.|HPO|N|
C0026363|Orofaciodigital syndrome II (OFD2), also known as Mohr syndrome, is characterized by cleft lip/palate, lobulated tongue with nodules, dental anomalies including tooth agenesis, maxillary hypoplasia, conductive hearing loss, and poly-, syn-, and brachydactyly. Mesomelic shortening of the limbs has also been observed (Mohr, 1941; Gorlin, 1982; Monroe et al., 2016).|OMIM|N|
C0026393|Molluscum contagiosum is a cutaneous viral infection that is commonly observed in both healthy and immunocompromised children. The infection is caused by a member of the Poxviridae family, the molluscum contagiosum virus. Molluscum contagiosum presents as single or multiple small white or flesh-colored papules that typically have a central umbilication. The central umbilication may be difficult to observe in young children and, instead, may bear an appearance similar to an acneiform eruption. The lesions vary in size (from 1 mm to 1 cm in diameter) and are painless, although a subset of patients report pruritus in the area of infection. On average, 11-20 papules appear on the body during the course of infection and generally remains a self-limiting disease. However, in immunosuppressed patients, molluscum contagiosum can be a severe infection with hundreds of lesions developing on the body. Extensive eruption is indicative of an advanced immunodeficiency state.|HPO|N|
C0026414|Infection of ruminants with tapeworms of the genus Moniezia.|MONDO|N|
C0026431|Diseases of Old World and New World monkeys. This term includes diseases of baboons but not of chimpanzees or gorillas (= APE DISEASES).|MSH|N|
C0026470|A condition in which an abnormal amount of a single immunoglobulin is present in the serum. This category includes IgM monoclonal gammopathy of undetermined significance and non-IgM monoclonal gammopathy of undetermined significance. Up to 25% of cases of monoclonal gammopathy of undetermined significance progress to a B-cell malignancy or myeloma.|NCI|N|
C0026471|A disease characterized by the presence of excessive amounts of paraprotein or single monoclonal gammaglobulin in the blood. It is usually due to an underlying immunoproliferative disorder or hematologic neoplasms, especially multiple myeloma.|MONDO|N|
C0026499|A chromosomal abnormality consisting of the absence of one chromosome from the normal diploid number.|NCI|N|
C0026538|Morbidity; the relative incidence of a particular disease in a population.|NCI|N|
C0026552|Strong dependence, both physiological and emotional, upon morphine.|MONDO|N|
C0026603|A sensation of discomfort that results from a discordant relationship between visualized movement and any movement sensed by the vestibular system, which is characterized by dizziness, nausea, and vomiting.|NCI|N|
C0026613|Marked impairments in the development of motor coordination such that the impairment interferes with activities of daily living. (From DSM-V)|MSH|N|
C0026618|A condition that results from excessive fluoride ingestion during tooth development, resulting in tooth discoloration ranging from white streaks to brown stains and cracks or pits in the tooth enamel.|NCI|N|
C0026633|An abnormality of the mouth.|HPO|N|
C0026635|Habitual breathing through the mouth, usually associated with obstruction of nasal passages|SNOMEDCT_US|N|
C0026636|A non-neoplastic or neoplastic disorder that affects the oral cavity or the lips. Representative examples include inflammatory disorders, precancerous conditions, and carcinomas.|NCI|N|
C0026640|A tumor (abnormal growth of tissue) of the oral cavity.|HPO|N|
C0026644|Having teeth in neither the mandible nor the maxilla.|NCI|N|
C0026650|An abnormality of movement with a neurological basis characterized by changes in coordination and speed of voluntary movements.|HPO|N|
C0026654|Moyamoya is the name given to a cerebral angiographic picture of bilateral intracranial carotid artery occlusion associated with telangiectatic vessels in the region of the basal ganglia. The Japanese word moyamoya means 'something hazy like a puff of cigarette smoke, drifting in the air.' Hemiplegia of sudden onset and epileptic seizures constitute the prevailing presentation in childhood, while subarachnoid bleeding occurs more frequently in adults (summary by Suzuki, 1986).
Genetic Heterogeneity of Moyamoya Disease
The MYMY1 locus maps to chromosome 3p. See also susceptibility to moyamoya disease-2 (MYMY2; 607151), caused by variation in the RNF213 gene (613768) on chromosome 17q25; MYMY3 (608796), which maps to chromosome 8q23; MYMY5 (614042), caused by mutation in the ACTA2 gene (102620) on chromosome 10q23; MYMY6 with achalasia (615750), caused by mutation in the GUCY1A3 gene (139396) on chromosome 4q32; and MYMY7 (620687), caused by mutation in the ANO1 gene (610108) on chromosome 11q13.
See also MYMY4 (300845), an X-linked recessive syndromic disorder characterized by moyamoya disease, short stature, hypergonadotropic hypogonadism, and facial dysmorphism.|OMIM|N|
C0026683|A mucous containing cyst arising from the minor salivary glands in the oral cavity.|NCI|N|
C0026684|Accumulation of mucus within the appendix.|NCI|N|
C0026686|A benign cyst located in the salivary gland that is lined by epithelium and filled with mucoid fluid, tissue, or other material; it is usually caused by duct obstruction.|NCI|N|
C0026691|Kawasaki disease is an acute, self-limited vasculitis of infants and children characterized by prolonged fever unresponsive to antibiotics, polymorphous skin rash, erythema of the oral mucosa, lips, and tongue, erythema of the palms and soles, bilateral conjunctival injection, and cervical lymphadenopathy (Kawasaki, 1967). Coronary artery aneurysms develop in 15 to 25% of those left untreated (Kato et al., 1975, 1996), making Kawasaki disease the leading cause of acquired heart disease among children in developed countries. Treatment with intravenous immunoglobulin (IVIg) abrogates the inflammation in approximately 80% of affected individuals and reduces the aneurysm rate to less than 5%. Cardiac sequelae of the aneurysms include ischemic heart disease, myocardial infarction, and sudden death. Epidemiologic features such as seasonality and clustering of cases suggested an infectious trigger, although no pathogen had been isolated. Several lines of evidence suggested the importance of genetic factors in disease susceptibility and outcome. First, the incidence of Kawasaki disease is 10 to 20 times higher in Japan than in Western countries (Cook et al., 1989). Second, the risk of Kawasaki disease in sibs of affected children is 10 times higher than in the general population, and the incidence of Kawasaki disease in children born to parents with a history of Kawasaki disease is twice as high as that in the general population (Fujita et al., 1989; Uehara et al., 2003).
Hata and Onouchi (2009) reviewed current knowledge on Kawasaki disease, including epidemiology, genomewide linkage analysis, and molecular genetics.|OMIM|N|
C0026697|A group of inherited lysosomal storage diseases characterized by accumulation of lipids and carbohydrates in the tissues, resulting in mental disabilities and skeletal malformations.|NCI|N|
C0026703|A group of autosomal recessive or X-linked inherited lysosomal storage disorders affecting the metabolism of mucopolysaccharides, resulting in the accumulation of mucopolysaccharides in the body. Signs and symptoms include organomegaly, intellectual disabilities, abnormal skeletal development, heart disorders, hearing loss, and central nervous system deficiencies.|NCI|N|
C0026705|Mucopolysaccharidosis type II (MPS II; also known as Hunter syndrome) is an X-linked multisystem disorder characterized by glycosaminoglycan (GAG) accumulation. The vast majority of affected individuals are male; on rare occasion heterozygous females manifest findings. Age of onset, disease severity, and rate of progression vary significantly among affected males. In those with early progressive disease, CNS involvement (manifest primarily by progressive cognitive deterioration), progressive airway disease, and cardiac disease usually result in death in the first or second decade of life. In those with slowly progressive disease, the CNS is not (or is minimally) affected, although the effect of GAG accumulation on other organ systems may be early progressive to the same degree as in those who have progressive cognitive decline. Survival into the early adult years with normal intelligence is common in the slowly progressing form of the disease. Additional findings in both forms of MPS II include: short stature; macrocephaly with or without communicating hydrocephalus; macroglossia; hoarse voice; conductive and sensorineural hearing loss; hepatosplenomegaly; dysostosis multiplex; spinal stenosis; and carpal tunnel syndrome.|GeneReviews|N|
C0026706|Mucopolysaccharidosis type III (MPS III) is a lysosomal storage disease belonging to the group of mucopolysaccharidoses and characterised by severe and rapid intellectual deterioration.|ORDO|N|
C0026707|Mucopolysaccharidosis type IV (MPS IV), also known as Morquio syndrome, is a progressive condition that mainly affects the skeleton. The rate at which symptoms worsen varies among affected individuals.\n\nThe life expectancy of individuals with MPS IV depends on the severity of symptoms. Severely affected individuals may survive only until late childhood or adolescence. Those with milder forms of the disorder usually live into adulthood, although their life expectancy may be reduced. Spinal cord compression and airway obstruction are major causes of death in people with MPS IV.\n\nThe first signs and symptoms of MPS IV usually become apparent during early childhood. Affected individuals develop various skeletal abnormalities, including short stature, knock knees, and abnormalities of the ribs, chest, spine, hips, and wrists. People with MPS IV often have joints that are loose and very flexible (hypermobile), but they may also have restricted movement in certain joints. A characteristic feature of this condition is underdevelopment (hypoplasia) of a peg-like bone in the neck called the odontoid process. The odontoid process helps stabilize the spinal bones in the neck (cervical vertebrae). Odontoid hypoplasia can lead to misalignment of the cervical vertebrae, which may compress and damage the spinal cord, resulting in paralysis or death.\n\nIn people with MPS IV, the clear covering of the eye (cornea) typically becomes cloudy, which can cause vision loss. Some affected individuals have recurrent ear infections and hearing loss. The airway may become narrow in some people with MPS IV, leading to frequent upper respiratory infections and short pauses in breathing during sleep (sleep apnea). Other common features of this condition include mildly "coarse" facial features, thin tooth enamel, multiple cavities, heart valve abnormalities, a mildly enlarged liver (hepatomegaly), and a soft out-pouching around the belly-button (umbilical hernia) or lower abdomen (inguinal hernia). Unlike some other types of mucopolysaccharidosis, MPS IV does not affect intelligence.|MedlinePlus Genetics|N|
C0026708|Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. While affected individuals have traditionally been classified as having one of three MPS I syndromes (Hurler syndrome, Hurler-Scheie syndrome, or Scheie syndrome), no easily measurable biochemical differences have been identified and the clinical findings overlap. Affected individuals are best described as having either a phenotype consistent with either severe (Hurler syndrome) or attenuated MPS I, a distinction that influences therapeutic options. Severe MPS I. Infants appear normal at birth. Typical early manifestations are nonspecific (e.g., umbilical or inguinal hernia, frequent upper respiratory tract infections before age 1 year). Coarsening of the facial features may not become apparent until after age one year. Gibbus deformity of the lower spine is common and often noted within the first year. Progressive skeletal dysplasia (dysostosis multiplex) involving all bones is universal, as is progressive arthropathy involving most joints. By age three years, linear growth decreases. Intellectual disability is progressive and profound but may not be readily apparent in the first year of life. Progressive cardiorespiratory involvement, hearing loss, and corneal clouding are common. Without treatment, death (typically from cardiorespiratory failure) usually occurs within the first ten years of life. Attenuated MPS I. Clinical onset is usually between ages three and ten years. The severity and rate of disease progression range from serious life-threatening complications leading to death in the second to third decade, to a normal life span complicated by significant disability from progressive joint manifestations and cardiorespiratory disease. While some individuals have no neurologic involvement and psychomotor development may be normal in early childhood, learning disabilities and psychiatric manifestations can be present later in life. Hearing loss, cardiac valvular disease, respiratory involvement, and corneal clouding are common.|GeneReviews|N|
C0026709|Mucopolysaccharidosis type VI (MPS6) is an autosomal recessive lysosomal storage disorder resulting from a deficiency of arylsulfatase B. Clinical features and severity are variable, but usually include short stature, hepatosplenomegaly, dysostosis multiplex, stiff joints, corneal clouding, cardiac abnormalities, and facial dysmorphism. Intelligence is usually normal (Azevedo et al., 2004).|OMIM|N|
C0026718|Infection in humans and animals caused by any fungus in the order MUCORALES (e.g., RHIZOPUS; MUCOR; CUNNINGHAMELLA; APOPHYSOMYCES; ABSIDIA; SAKSENAEA and RHIZOMUCOR) There are many clinical types associated with infection including central nervous system, lung, gastrointestinal tract, skin, orbit and paranasal sinuses. In humans, it usually occurs as an OPPORTUNISTIC INFECTION.|MSH|N|
C0026725|A polypoid lesion that arises from the cervix and contains mucus.|NCI|N|
C0026755|A group of inborn errors of biotin metabolism characterised by reduced activities of biotin-dependent enzymes resulting in a wide spectrum of symptoms, including feeding difficulty, breathing difficulties, lethargy, seizures, skin rash, alopecia, and developmental delay. This group includes biotinidase deficiency and biotin holocarboxylase synthetase deficiency.|SNOMEDCT_US|N|
C0026760|A rare group of primary bone dysplasia disorders characterized by the association of epiphyseal anomalies of long bones causing joint pain early in life, recurrent osteochondritis and early arthrosis. This group contains an heterogeneous group of diseases with variable expression. Common reported clinical signs include waddling gait and pain at onset, and moderate short stature. Some forms are mainly limited to the femoral epiphyses, while several other syndromes are characterized by the association of multiple epiphyseal dysplasia with other clinical manifestations such as myopia, deafness and facial dysmorphism. Diagnosis relies on identification of the radiological features.|ORDO|N|
C0026764|Multiple myeloma is a neoplastic plasma cell disorder characterized by clonal proliferation of malignant plasma cells in the bone marrow microenvironment, monoclonal protein in the blood or urine, and associated organ dysfunction (Palumbo and Anderson, 2011).|OMIM|N|
C0026766|Progressive, potentially reversible physiologic dysfunction in two or more organ systems in response to severe physiologic insult. Dysregulated immunological response is the critical pathophysiologic factor in most cases.|NCI|N|
C0026769|A progressive autoimmune disorder affecting the central nervous system resulting in demyelination. Patients develop physical and cognitive impairments that correspond with the affected nerve fibers.|NCI|N|
C0026773|A disorder characterized by the presence of two or more identities with distinct patterns of perception and personality which recurrently take control of the person''s behavior; this is accompanied by a retrospective gap in memory of important personal information that far exceeds ordinary forgetfulness. The changes in identity are not due to substance use or to a general medical condition.|NCI|N|
C0026780|A contagious viral infection caused by the mumps virus. Symptoms include swollen and tender parotid glands, fever, muscle aches and fatigue. Due to vaccination programs, mumps has become a rare disease.|NCI|N|
C0026785|A factitious disorder characterized by habitual presentation for hospital treatment of an apparent acute illness, the patient giving a plausible and dramatic history, all of which is false.|MSH|N|
C0026821|A sustained, sudden and involuntary contraction of a muscle or group of muscles.|NCI|N|
C0026825|A type of paralysis in which a muscle becomes soft and yields to passive stretching, which results from loss of all or practically all peripheral motor nerves that innervated the muscle. Muscle tone is reduced and the affected muscles undergo extreme atrophy within months of the loss of innervation.|HPO|N|
C0026826|A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move.|HPO|N|
C0026827|Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.|HPO|N|
C0026837|Continuous involuntary sustained muscle contraction. When an affected muscle is passively stretched, the degree of resistance remains constant regardless of the rate at which the muscle is stretched. This feature helps to distinguish rigidity from muscle spasticity.|HPO|N|
C0026838|A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.|HPO|N|
C0026846|The loss of muscle tissue due to inactivity or disease.|NCI|N|
C0026847|Spinal muscular atrophy (SMA) is characterized by muscle weakness and atrophy resulting from progressive degeneration and irreversible loss of the anterior horn cells in the spinal cord (i.e., lower motor neurons) and the brain stem nuclei. The onset of weakness ranges from before birth to adulthood. The weakness is symmetric, proximal > distal, and progressive. Before the genetic basis of SMA was understood, it was classified into clinical subtypes based on maximum motor function achieved; however, it is now apparent that the phenotype of SMN1-associated SMA spans a continuum without clear delineation of subtypes. With supportive care only, poor weight gain with growth failure, restrictive lung disease, scoliosis, and joint contractures are common complications; however, newly available targeted treatment options are changing the natural history of this disease.|GeneReviews|N|
C0026848|A disorder of muscle unrelated to impairment of innervation or neuromuscular junction.|HPO|N|
C0026850|The term dystrophy means abnormal growth. However, muscular dystrophy is used to describe primary myopathies with a genetic basis and a progressive course characterized by progressive skeletal muscle weakness and wasting, defects in muscle proteins, and histological features of muscle fiber degeneration (necrosis) and regeneration. If possible, it is preferred to use other HPO terms to describe the precise phenotypic abnormalities.|HPO|N|
C0026851|MUSCULAR DYSTROPHY that occurs in VERTEBRATE animals.|MSH|N|
C0026857|A non-neoplastic or neoplastic disorder that affects muscles and bones.|NCI|N|
C0026858|Pain that originates in the bones, muscles, tendons or ligaments.|NCI|N|
C0026884|Inability to speak or communicate verbally past the age of typical language development.|HPO|N|
C0026896|Myasthenia gravis is an autoimmune disease in which antibodies bind to acetylcholine receptors or to functionally related molecules in the postsynaptic membrane at the neuromuscular junction. The antibodies induce weakness of skeletal muscles, which is the sole disease manifestation. The weakness can be generalized or localized, is more proximal than distal, and nearly always includes eye muscles, with diplopia and ptosis. The pattern of involvement is usually symmetric, apart from the eye involvement, which is often markedly asymmetric and involves several eye muscles. The weakness typically increases with exercise and repetitive muscle use (fatigue) and varies over the course of a day and from day to day, often with nearly normal muscle strength in the morning (summary by Gilhus, 2016).|OMIM|N|
C0026916|An infection that is caused by Mycobacterium avium.|NCI|N|
C0026918|Infection due to organisms from the genus Mycobacteria.|NCI|N|
C0026919|Infections with nontuberculous mycobacteria (atypical mycobacteria): M. kansasii, M. marinum, M. scrofulaceum, M. flavescens, M. gordonae, M. obuense, M. gilvum, M. duvali, M. szulgai, M. intracellulare (see MYCOBACTERIUM AVIUM COMPLEX;), M. xenopi (littorale), M. ulcerans, M. buruli, M. terrae, M. fortuitum (minetti, giae), M. chelonae, M. leprae.|MSH|N|
C0026936|Infections with species of the genus MYCOPLASMA.|MSH|N|
C0026945|Infections with bacteria of the order MYCOPLASMATALES.|MSH|N|
C0026946|An infection caused by a fungus.|NCI|N|
C0026948|Mycosis fungoides is a malignant T-cell lymphoma of the skin, first reported (and named) by Alibert (1835).
Sezary syndrome is a leukemic variant of mycosis fungoides defined by erythroderma with greater than 80% of the skin showing redness, adenopathy and greater than 1,000 circulating Sezary cells/microliter with a CD4+CD26- or CD4+CD7- phenotype. Sezary cells have a type 2 helper T cell cytokine profile. Sezary syndrome has a median overall survival time of only 2.4 years in patients with Sezary cells at a density of greater than 10,000 cells/microliter or 5.4 years in patients with 1,000-10,000 Sezary cells/microliter. Mycosis fungoides and Sezary syndrome are the most common cutaneous T-cell lymphomas. Sezary syndrome can arise de novo or can appear following years of chronic mycosis fungoides. Both are thought to arise from clonal expansion of CD4+ helper T cells responding to chronic antigen stimulation  (summary by Wang et al., 2015).|OMIM|N|
C0026961|Abnormal dilatation of the iris.|HPO|N|
C0026975|Inflammation of the spinal cord.|HPO|N|
C0026976|Inflammation of a transverse portion of the spinal cord characterized by acute or subacute segmental demyelination or necrosis. The condition may occur sporadically, follow an infection or vaccination, or present as a paraneoplastic syndrome (see also ENCEPHALOMYELITIS, ACUTE DISSEMINATED). Clinical manifestations include motor weakness, sensory loss, and incontinence. (Adams et al., Principles of Neurology, 6th ed, pp1242-6)|MSH|N|
C0026985|Clonal hematopoietic stem cell disorders characterized by dysplasia (ineffective production) in one or more hematopoietic cell lineages, leading to anemia and cytopenia.|HPO|N|
C0026987|Replacement of bone marrow by fibrous tissue.|HPO|N|
C0026998|A rare, acute myeloid leukemia characterized by no significant myeloid maturation and more than 90% blast cells in the non-erythroid population. Various degrees of anemia, thrombocytopenia, or pancytopenia are present. Frequent clinical manifestations include fatigue, fever, bleeding disorders, and organomegaly, especially hepatosplenomegaly.|ORDO|N|
C0027022|Proliferation (excess production) of hemopoietically active tissue or of tissue which has embryonic hemopoietic potential.|HPO|N|
C0027030|The infection of a fly larva (maggot) in human tissue, which most commonly occurs in tropical climates. Affected tissues most commonly include skin, especially if open wounds are present, nasal passages, ears, and eyes.|NCI|N|
C0027034|An myiasis caused by infection with Oestrus ovis.|MONDO|N|
C0027043|A granular cell tumor characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C0027046|Degeneration of myocardial tissue.|NCI|N|
C0027051|Necrosis of the myocardium caused by an obstruction of the blood supply to the heart and often associated with chest pain, shortness of breath, palpitations, and anxiety as well as characteristic EKG findings and elevation of serum markers including creatine kinase-MB fraction and troponin.|HPO|N|
C0027055|Damage to the MYOCARDIUM resulting from MYOCARDIAL REPERFUSION (restoration of blood flow to ischemic areas of the HEART.) Reperfusion takes place when there is spontaneous thrombolysis, THROMBOLYTIC THERAPY, collateral flow from other coronary vascular beds, or reversal of vasospasm.|MSH|N|
C0027059|Inflammation of the myocardium.|HPO|N|
C0027060|Inflammation of the heart characterized by infiltration of the interstitial tissues by inflammatory cells, histiocytes, and the formation of granulomas. Giant cells are often present.|NCI|N|
C0027066|Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements.|HPO|N|
C0027070|A benign or malignant tumor characterized by the presence of cells that show myoepithelial differentiation. Based on its morphologic features, it is classified as benign or malignant. A representative example of benign myoepithelioma is benign salivary gland myoepithelioma. Representative examples of malignant myoepithelioma or myoepithelial carcinoma are malignant breast myoepithelioma and salivary gland myoepithelial carcinoma.|NCI|N|
C0027073|Muscular pain in numerous body regions that can be reproduced by pressure on trigger points, localized hardenings in skeletal muscle tissue. Pain is referred to a location distant from the trigger points. A prime example is the temporomandibular joint dysfunction syndrome.|MONDO|N|
C0027080|Presence of myoglobin in the urine.|HPO|N|
C0027086|A benign mesenchymal neoplasm arising from smooth, skeletal, or cardiac muscle tissue [NCIT:C4882].|HPO|N|
C0027092|Nearsightedness, also known as myopia, is an eye condition that causes blurry distance vision. People who are nearsighted have more trouble seeing things that are far away (such as when driving) than things that are close up (such as when reading or using a computer). If it is not treated with corrective lenses or surgery, nearsightedness can lead to squinting, eyestrain, headaches, and significant visual impairment.\n\nNearsightedness usually begins in childhood or adolescence. It tends to worsen with age until adulthood, when it may stop getting worse (stabilize). In some people, nearsightedness improves in later adulthood.\n\nFor normal vision, light passes through the clear cornea at the front of the eye and is focused by the lens onto the surface of the retina, which is the lining of the back of the eye that contains light-sensing cells. People who are nearsighted typically have eyeballs that are too long from front to back. As a result, light entering the eye is focused too far forward, in front of the retina instead of on its surface. It is this change that causes distant objects to appear blurry. The longer the eyeball is, the farther forward light rays will be focused and the more severely nearsighted a person will be.\n\nNearsightedness is measured by how powerful a lens must be to correct it. The standard unit of lens power is called a diopter. Negative (minus) powered lenses are used to correct nearsightedness. The more severe a person's nearsightedness, the larger the number of diopters required for correction. In an individual with nearsightedness, one eye may be more nearsighted than the other.\n\nEye doctors often refer to nearsightedness less than -5 or -6 diopters as "common myopia." Nearsightedness of -6 diopters or more is commonly called "high myopia." This distinction is important because high myopia increases a person's risk of developing other eye problems that can lead to permanent vision loss or blindness. These problems include tearing and detachment of the retina, clouding of the lens (cataract), and an eye disease called glaucoma that is usually related to increased pressure within the eye. The risk of these other eye problems increases with the severity of the nearsightedness. The term "pathological myopia" is used to describe cases in which high myopia leads to tissue damage within the eye.|MedlinePlus Genetics|N|
C0027095|A general term for a malignant neoplasm derived from muscular tissue. (Stedman, 25th ed)|MSH|N|
C0027121|Idiopathic inflammatory myopathy is a group of disorders characterized by inflammation of the muscles used for movement (skeletal muscles). Idiopathic inflammatory myopathy usually appears in adults between ages 40 and 60 or in children between ages 5 and 15, though it can occur at any age.\n\nIn sporadic inclusion body myositis, the muscles most affected are those of the wrists and fingers and the front of the thigh. Affected individuals may frequently stumble while walking and find it difficult to grasp items. As in dermatomyositis and polymyositis, swallowing can be difficult.\n\nThe primary symptom of idiopathic inflammatory myopathy is muscle weakness, which develops gradually over a period of weeks to months or even years. Other symptoms include joint pain and general tiredness (fatigue).\n\nThere are several forms of idiopathic inflammatory myopathy, including polymyositis, dermatomyositis, and sporadic inclusion body myositis.\n\nPolymyositis and dermatomyositis involve weakness of the muscles closest to the center of the body (proximal muscles), such as the muscles of the hips and thighs, upper arms, and neck. People with these forms of idiopathic inflammatory myopathy may find it difficult to climb stairs, get up from a seated position, or lift items above their head. In some cases, muscle weakness may make swallowing or breathing difficult.\n\nPolymyositis and dermatomyositis have similar symptoms, but dermatomyositis is distinguished by a reddish or purplish rash on the eyelids, elbows, knees, or knuckles. Sometimes, abnormal calcium deposits form hard, painful bumps under the skin (calcinosis).|MedlinePlus Genetics|N|
C0027122|A self-limited benign neoplasm characterized by a zonal architecture. It is composed of spindle cells oriented randomly or in short intersecting fascicles. Peripherally, the spindle cells merge with osteoblasts that rim and populate ill-defined trabeculae and sheets of unmineralized woven bone, which is surrounded by well-formed trabecular and cortical-type bone that remodels into lamellar bone. Treatment is usually simple excision. Prognosis is excellent; recurrence is uncommon. (WHO 2020)|NCI|N|
C0027123|A rare maxillo-facial surgical disease characterized by an inflammatory, granulomatous lesion, most commonly of iatrogenic origin due to interaction of extravasated erythrocytes with exogenous lipids, in particular petrolatum-based antibiotic ointment used after surgical procedures. Most frequent locations are the paranasal sinuses and jaws, although the lesion can occur in any part of the body. It is typically found incidentally as an asymptomatic soft tissue swelling.|ORDO|N|
C0027126|Myotonic dystrophy is an autosomal dominant disorder characterized mainly by myotonia, muscular dystrophy, cataracts, hypogonadism, frontal balding, and ECG changes. The genetic defect in DM1 results from an amplified trinucleotide repeat in the 3-prime untranslated region of a protein kinase gene. Disease severity varies with the number of repeats: normal individuals have 5 to 37 repeats, mildly affected persons have 50 to 150 repeats, patients with classic DM have 100 to 1,000 repeats, and those with onset at birth can have more than 2,000 repeats. The disorder shows genetic anticipation, with expansion of the repeat number dependent on the sex of the transmitting parent. Alleles of 40 to 80 repeats are usually expanded when transmitted by males, whereas only alleles longer than 80 repeats tend to expand in maternal transmissions. Repeat contraction events occur 4.2 to 6.4% of the time (Musova et al., 2009).
Genetic Heterogeneity of Myotonic Dystrophy
See also myotonic dystrophy-2 (DM2; 602668), which is caused by mutation in the ZNF9 gene (116955) on chromosome 3q21.|OMIM|N|
C0027127|Myotonia congenita is characterized by muscle stiffness present from childhood; all striated muscle groups including the extrinsic eye muscles, facial muscles, and tongue may be involved. Stiffness is relieved by repeated contractions of the muscle (the "warm-up" phenomenon). Muscles are usually hypertrophic. Whereas autosomal recessive (AR) myotonia congenita is often associated with more severe manifestations (such as progressive minor distal weakness and attacks of transient weakness brought on by movement after rest), autosomal dominant (AD) myotonia congenita is not. The age of onset varies: in AD myotonia congenita onset is usually in infancy or early childhood; in AR myotonia congenita the average age of onset is slightly older. In both AR and AD myotonia congenita onset may be as late as the third or fourth decade of life.|GeneReviews|N|
C0027128|A cataract occurring as a sequela of myotonic dystrophy.|NCI|N|
C0027134|An inflammatory disease involving a pathogenic inflammatory response in the tympanic membrane.|MONDO|N|
C0027145|A condition characterized by severe hypothyroidism that is caused by autoimmune thyroid gland disorders, surgical reduction of thyroid tissue, radiation exposure, and viral infections. Signs and symptoms include generalized fatigue, lethargy, increased body weight, pale, edematous and thickened skin, low blood pressure, constipation and cold intolerance.|NCI|N|
C0027149|A benign soft tissue neoplasm characterized by the presence of spindle and stellate cells, lobulated growth pattern, and myxoid stroma formation.|NCI|N|
C0027152|Diseases caused by MYXOMA VIRUS.|MSH|N|
C0027155|An infiltrating malignant soft tissue neoplasm characterized by the presence of immature undifferentiated cells and abundant myxoid stroma formation.|NCI|N|
C0027269|A benign, mucus-filled cervical cyst that occurs when mucus-secreting columnar epithelial cells are covered with squamous epithelium.|NCI|N|
C0027338|Habitual biting of one's own fingernails.|HPO|N|
C0027339|A disease involving the nail.|MONDO|N|
C0027341|Nail-patella syndrome (NPS) (previously referred to as Fong's disease), encompasses the classic clinical tetrad of changes in the nails, knees, and elbows, and the presence of iliac horns. Nail changes are the most constant feature of NPS. Nails may be absent, hypoplastic, or dystrophic; ridged longitudinally or horizontally; pitted; discolored; separated into two halves by a longitudinal cleft or ridge of skin; and thin or (less often) thickened. The patellae may be small, irregularly shaped, or absent. Elbow abnormalities may include limitation of extension, pronation, and supination; cubitus valgus; and antecubital pterygia. Iliac horns are bilateral, conical, bony processes that project posteriorly and laterally from the central part of the iliac bones of the pelvis. Renal involvement, first manifest as proteinuria with or without hematuria, occurs in 30%-50% of affected individuals; end-stage renal disease occurs up to 15% of affected individuals. Primary open-angle glaucoma and ocular hypertension occur at increased frequency and at a younger age than in the general population.|GeneReviews|N|
C0027343|Excessive growth of a nail laterally into the nail fold.|HPO|N|
C0027344|Deformities in nail structure or appearance, including hypertrophy, splitting, clubbing, furrowing, etc. Genetic diseases such as PACHYONYCHIA CONGENITA can result in malformed nails.|MSH|N|
C0027345|An arbovirus infection of sheep and goats transmitted by ticks. It is characterized by high fever and hemorrhagic gastroenteritis.|MSH|N|
C0027401|A psychoanalytic term meaning self-love.|MSH|N|
C0027402|A disorder characterized by an enduring pattern of grandiose beliefs and arrogant behavior together with an overwhelming need for admiration and a lack of empathy for (and even exploitation of) others.|NCI|N|
C0027404|An abnormal phenomenon characterized by a classic tetrad of excessive daytime sleepiness with irresistible sleep attacks, cataplexy (sudden bilateral loss of muscle tone), hypnagogic hallucinations, and sleep paralysis.|HPO|N|
C0027412|Disorders related to or resulting from abuse or misuse of OPIOIDS.|MSH|N|
C0027424|Reduced ability to pass air through the nasal cavity often leading to mouth breathing.|HPO|N|
C0027429|Blockage of the nasal passages.|NCI|N|
C0027430|Polypoidal masses arising mainly from the mucous membranes of the nose and paranasal sinuses. They are freely movable and nontender overgrowths of the mucosa that frequently accompany allergic rhinitis.|HPO|N|
C0027438|A non-neoplastic or neoplastic disorder that affects the nasopharynx. Representative examples include nasopharyngitis, angiofibroma, and carcinoma.|NCI|N|
C0027439|A benign or malignant neoplasm affecting the nasopharynx. Representative examples of benign neoplasms include angiofibroma and squamous papilloma. Representative examples of malignant neoplasms include keratinizing squamous cell carcinoma and nonkeratinizing carcinoma.|NCI|N|
C0027441|An inflammatory process that affects the nasopharynx.|NCI|N|
C0027443|A tooth present at birth or erupting within the first month of life.|HPO|N|
C0027497|A sensation of unease in the stomach together with an urge to vomit.|HPO|N|
C0027498|Nausea is a commonly encountered symptom that has been defined as an unpleasant painless subjective feeling that one will imminently vomit. Vomiting has been defined as the forceful expulsion of the contents of the stomach, duodenum, or jejunum through the oral cavity. While nausea and vomiting are often thought to exist on a temporal continuum, this is not always the case. There are situations when severe nausea may be present without emesis and less frequently, when emesis may be present without preceding nausea.|HPO|N|
C0027528|A disorder caused by an infection with hookworms of the genus Necator, which settle in the host''s small intestine, and cause abdominal pain, diarrhea, weight loss, and anemia.|NCI|N|
C0027533|A benign or malignant neoplasm that affects the neck region.|NCI|N|
C0027537|Lemierre syndrome is a rare, potentially lethal, oropharyngeal infectious disease occurring in immunocompetent adolescents and young adults that is mainly due to <i>Fusobacterium necrophorum</i> and that is characterized by septic thrombophlebitis of the internal jugular vein that leads to septic, usually pulmonary, embolism, associated with ENT (ear, nose, and throat) infection that manifests with fever, neck pain, and tonsillopharyngitis.|ORDO|N|
C0027538|A rare skin disease characterized by enlarging, annular plaques with red-brown edges and atrophic, yellow-brown, telangiectatic centers. The lesions are commonly asymptomatic, but affected skin areas may be fragile, and painful ulcerations develop in many cases. In rare cases, development of squamous cell carcinoma within longstanding lesions has been reported. The lower legs, especially the shins, are the most frequently involved site. The condition is often associated with diabetes mellitus.|ORDO|N|
C0027540|Relating to or affected by necrosis.|NCI|N|
C0027543|A disease where there is cellular death (necrosis) of bone components due to interruption of the blood supply.|HPO|N|
C0027544|Yellow or white tissue that adheres to the ulcer bed in strings or thick clumps, or is mucinous.|LNC|N|
C0027547|A severe form of scleritis with subtypes: necrotising zonal granulomatous inflammation, diffuse non-granulomatous chronic inflammation, mixed pattern of acute purulent inflammation mixed with granulomatous inflammation and sarcoidal pattern.|MONDO|N|
C0027577|A syndrome that develops following bilateral adrenalectomy for Cushing syndrome. The signs and symptoms result from the presence of an adenocorticotropin-secreting pituitary gland adenoma, and include enlargement of the sella turcica and pressure on the adjacent structures, and skin hyperpigmentation.|NCI|N|
C0027583|Infections caused by nematode larvae which never develop into the adult stage and migrate through various body tissues. They commonly infect the skin, eyes, and viscera in humans. Ancylostoma brasiliensis causes cutaneous larva migrans. Toxocara causes visceral larva migrans.|MONDO|N|
C0027609|A constellation of neurobehavioral features observed in a neonate following antenatal exposure to drugs including opioids, benzodiazepines, and selective serotonin reuptake inhibitors.|NCI|N|
C0027612|Diseases existing at birth and often before birth, or that develop during the first month of life (INFANT, NEWBORN, DISEASES), regardless of causation. Of these diseases, those characterized by structural deformities are termed CONGENITAL ABNORMALITIES.|MSH|N|
C0027613|Chronic hepatitis characterized by parenchymal inflammation with formation of large multinucleated hepatocytes in response to a variety of insults to the liver.|HPO|N|
C0027626|Ability of neoplasms to infiltrate and actively destroy surrounding tissue.|MSH|N|
C0027627|The spread or migration of cancer cells from one part of the body (the organ in which it first appeared) to another. The secondary tumor contains cells that are like those in the original (primary) tumor.|NCI|N|
C0027643|The local recurrence of a neoplasm following treatment. It arises from microscopic cells of the original neoplasm that have escaped therapeutic intervention and later become clinically visible at the original site.|MSH|N|
C0027645|The local implantation of tumor cells by contamination of instruments and surgical equipment during and after surgical resection, resulting in local growth of the cells and tumor formation.|MSH|N|
C0027651|An organ or organ-system abnormality that consists of uncontrolled autonomous cell-proliferation which can occur in any part of the body as a benign or malignant neoplasm (tumor).|HPO|N|
C0027652|A collective term for the various histological types of NEOPLASMS. It is more likely to be used by searchers than by indexers and catalogers.|MSH|N|
C0027653|A term that refers to the classification of a neoplastic process according to the anatomic site that is involved.|NCI|N|
C0027654|A usually malignant neoplasm composed of primitive (immature) tissues that resemble fetal tissues. Medulloblastoma, ependymoblastoma, pineoblastoma, and Wilms tumor are representative embryonal neoplasms.|NCI|N|
C0027656|Neoplasms composed of connective tissue, including elastic, mucous, reticular, osseous, and cartilaginous tissue. The concept does not refer to neoplasms located in connective tissue.|MONDO|N|
C0027658|Neoplasms composed of primordial GERM CELLS of embryonic GONADS or of elements of the germ layers of the EMBRYO, MAMMALIAN. The concept does not refer to neoplasms located in the gonads or present in an embryo or FETUS.|MSH|N|
C0027659|Laboratory tumor models used to study tumor development and treatment.|NCI|N|
C0027660|Neoplasms composed of glandular tissue, an aggregation of epithelial cells that elaborate secretions, and of any type of epithelium itself. The concept does not refer to neoplasms located in the various glands or in epithelial tissue.|MSH|N|
C0027661|Certain tumors that 1, arise in organs that are normally dependent on specific hormones and 2, are stimulated or caused to regress by manipulation of the endocrine environment.|MSH|N|
C0027662|Multiple endocrine neoplasia (MEN) is a group of rare inherited cancer syndromes characterized by the development of two or more endocrine gland tumors, sometimes with tumor development in other tissues or organs.|ORDO|N|
C0027663|Two or more abnormal growths of tissue occurring simultaneously and presumed to be of separate origin. The neoplasms may be histologically the same or different, and may be found in the same or different sites.|MSH|N|
C0027664|Neoplasms composed of muscle tissue: skeletal, cardiac, or smooth. The concept does not refer to neoplasms located in muscles.|MSH|N|
C0027665|A neoplasm derived from nervous tissue (not necessarily a neoplasm located in the nervous system).|HPO|N|
C0027666|A neoplasm that develops as a result of exposure to radiation.|NCI|N|
C0027667|The spread of a malignant neoplasm from an unknown primary to another region remote from the primary site.|NCI|N|
C0027668|A benign, intermediate, or malignant neoplasm arising from vascular tissue including arteries, veins, venous sinuses, lymphatic vessels, arterioles and capillaries. It may occur in essentially any body location and is characterized by the presence of vascular channel formation and endothelial cells.|NCI|N|
C0027670|Syndromes resulting from inappropriate production of HORMONES or hormone-like materials by NEOPLASMS in non-endocrine tissues or not by the usual ENDOCRINE GLANDS. Such hormone outputs are called ectopic hormone (HORMONES, ECTOPIC) secretion.|MSH|N|
C0027671|The pathological mechanisms and forms taken by tissue during degeneration into a neoplasm and its subsequent activity.|MSH|N|
C0027672|An inherited genetic condition in which members within a family are at an increased risk for the development of benign and/or malignant neoplasms.|NCI|N|
C0027686|The formation of new or recent blood vessels. The vasculature network is critical to the development of neoplasms. As the tumor burden grows, vascular endothelial cells are recruited to form new blood vessels as an increased demand for blood and nourishment is required.|NCI|N|
C0027697|The presence of inflammation affecting the kidney.|HPO|N|
C0027706|A group of inherited conditions characterized initially by hematuria and slowly progressing to renal insufficiency. The most common form is the Alport syndrome (hereditary nephritis with hearing loss) which is caused by mutations in genes for type IV collagen and defective glomerular basement membrane.|MONDO|N|
C0027708|The presence of a nephroblastoma, which is a neoplasm of the kidney that primarily affects children.|HPO|N|
C0027709|Nephrocalcinosis is the deposition of calcium salts in renal parenchyma.|HPO|N|
C0027719|Nephrosclerosis refers to thickening or scarring ("sclerosis") resulting from damage to the renal arterioles, also referred to as arteriosclerosis of the kidney arteries.|HPO|N|
C0027720|Pathological processes of the KIDNEY without inflammatory or neoplastic components. Nephrosis may be a primary disorder or secondary complication of other diseases. It is characterized by the NEPHROTIC SYNDROME indicating the presence of PROTEINURIA and HYPOALBUMINEMIA with accompanying EDEMA.|MONDO|N|
C0027721|The presence of minimal changes visible by light microscopy but flattened and fused podocyte foot processes on electron microscopy in a person with nephrotic range proteinuria.|HPO|N|
C0027726|Nephrotic syndrome is a collection of findings resulting from glomerular dysfunction with an increase in glomerular capillary wall permeability associated with pronounced proteinuria. Nephrotic syndrome refers to the constellation of clinical findings that result from severe renal loss of protein, with Proteinuria and hypoalbuminemia, edema, and hyperlipidemia.|HPO|N|
C0027743|Mechanical compression of nerves or nerve roots from internal or external causes. These may result in a conduction block to nerve impulses (due to MYELIN SHEATH dysfunction) or axonal loss. The nerve and nerve sheath injuries may be caused by ISCHEMIA; INFLAMMATION; or a direct mechanical effect.|MSH|N|
C0027746|Progressive loss of neural cells and tissue.|HPO|N|
C0027765|A non-neoplastic or neoplastic disorder that affects the brain, spinal cord, or peripheral nerves.|NCI|N|
C0027766|A tumor (abnormal growth of tissue) of the nervous system.|HPO|N|
C0027769|An uneasy psychological state; the anxious feeling you have when you have the jitters.|NCI|N|
C0027773|An abnormality of pancreatic beta cells characterized by a proliferation of abnormal beta cells throughout the entire pancreas, with enlarged islet size and number (hypertrophic islets), increased periductular islets, enlarged beta-cell nuclei and abundant clear cytoplasm. Occasionally beta cells with pleomorphic nuclei, ductuloinsular complexes, and neoformation of islets from ducts are observed.|HPO|N|
C0027794|Neural tube defects are the second most common type of birth defect after congenital heart defects. The 2 most common NTDs are open spina bifida, also known as spina bifida cystica (SBC) or myelomeningocele, and anencephaly (see 206500) (Detrait et al., 2005). Spina bifida occulta (SBO), a bony defect of the spine covered by normal skin, is a mild form of spina bifida that is often asymptomatic. The term 'spinal dysraphia' refers to both SBC and SBO (Botto et al., 1999; Fineman et al., 1982). The most severe neural tube defect, craniorachischisis (CRN), leaves the neural tube open from the midbrain or rostral hindbrain to the base of the spine (summary by Robinson et al., 2012).
Neural tube defects represent a complex trait with multifactorial etiology encompassing both genetic and environmental components (summary by Bartsch et al., 2012 and Lei et al., 2014).
An X-linked form of spina bifida has been suggested; see 301410. See also folate-sensitive neural tube defects (601634), which are caused by genes involved in folate metabolism.|OMIM|N|
C0027796|Pain (An unpleasant sensory and emotional experience) along the course of a nerve.|HPO|N|
C0027804|An episode of acute, severe anxiety or depression associated with an inability to function as normal.|NCI|N|
C0027806|The neurenteric cyst is a rare lesion composed of heterotopic endodermal tissue. During the third week of human embryogenesis, the neurenteric canal unites the yolk sac and the amniotic cavity as it traverses the primitive notochordal plate. Persistence of the normally transient neurenteric canal prevents appropriate separation of endoderm and notochord. This results in a variable degree of communication between neural and enteric epithelium.|HPO|N|
C0027809|A benign nerve sheath tumor composed of Schwann cells.|HPO|N|
C0027813|Inflammation of a nerve.|HPO|N|
C0027819|ALK-related neuroblastic tumor susceptibility is characterized by increased risk for neuroblastic tumors including neuroblastoma, ganglioneuroblastoma, and ganglioneuroma. Neuroblastoma is a more malignant tumor and ganglioneuroma a more benign tumor. Depending on the histologic findings, ganglioneuroblastoma can behave in a more aggressive fashion, like neuroblastoma, or in a benign fashion, like ganglioneuroma. Preliminary data from the ten reported families with ALK-related neuroblastic tumor susceptibility suggest an overall penetrance of approximately 57% with the risk for neuroblastic tumor development highest in infancy and decreasing by late childhood.|GeneReviews|N|
C0027822|Skin findings arising from repeated rubbing, picking or scratching of a real or imagined irritation of the skin.|NCI|N|
C0027830|A rare benign peripheral nerve sheath tumor characterized by a well-demarcated intraneural or diffusely infiltrative extraneural space-occupying lesion consisting of Schwann cells, perineurial-like cells, and fibroblasts. It presents as a cutaneous nodule, a circumscribed mass in a peripheral nerve, a plexiform enlargement of a major nerve trunk, or with diffuse but localized involvement of skin and subcutaneous tissue. Multiple neurofibromas are typically associated with neurofibromatosis 1. Malignant transformation occurs almost exclusively in plexiform neurofibromas and neurofibromas of major nerves.|ORDO|N|
C0027831|Neurofibromatosis 1 (NF1) is a multisystem disorder characterized by multiple café au lait macules, intertriginous freckling, multiple cutaneous neurofibromas, and learning disability or behavior problems. About half of people with NF1 have plexiform neurofibromas, but most are internal and not suspected clinically. Plexiform neurofibromas can cause pain, neurologic deficits, and abnormalities of involved or adjacent structures. Less common but potentially more serious manifestations include optic nerve and other central nervous system gliomas, malignant peripheral nerve sheath tumors, scoliosis, tibial dysplasia, vasculopathy, and gastrointestinal, endocrine, or pulmonary disease.|GeneReviews|N|
C0027832|Neurofibromatosis 2 (NF2) is characterized by bilateral vestibular schwannomas with associated symptoms of tinnitus, hearing loss, and balance dysfunction. The average age of onset is 18 to 24 years. Almost all affected individuals develop bilateral vestibular schwannomas by age 30 years. Affected individuals may also develop schwannomas of other cranial and peripheral nerves, meningiomas, ependymomas, and, very rarely, astrocytomas. Because NF2 is considered an adult-onset disease, it may be underrecognized in children, in whom skin tumors and ocular findings (retinal hamartoma, thickened optic nerves, cortical wedge cataracts, third cranial nerve palsy) may be the first manifestations. Mononeuropathy that occurs in childhood is an increasingly recognized finding; it frequently presents as a persistent facial palsy or hand/foot drop.|GeneReviews|N|
C0027849|A rare neuropsychiatric syndrome associated with administration of antipsychotic or other central dopamine (D2) receptor antagonists, and characterized by hyperthermia, muscular rigidity, autonomic dysfunction and altered consciousness.|ORDO|N|
C0027854|Clinical signs and symptoms caused by nervous system injury or dysfunction.|MSH|N|
C0027858|A tumor made up of nerve cells and nerve fibers.|HPO|N|
C0027859|A vestibular schwannoma (also known as acoustic neuroma, acoustic neurinoma, or acoustic neurilemoma) is a benign, usually slow-growing tumor that develops from the VIIIth cranial nerve supplying the inner ear.|HPO|N|
C0027868|A group of disorders that affect the neuromuscular system. They may be acquired or inherited and tend to be progressive, resulting in debilitating muscle weakness.|NCI|N|
C0027873|A rare inflammatory disease of the central nervous system characterized mainly by attacks of uni- or bilateral optic neuritis (ON) and acute myelitis.|ORDO|N|
C0027877|Some children with CLN2 disease do not develop symptoms until later in childhood, typically after age 4. These individuals tend to have milder features overall compared to those diagnosed earlier, but with more severe ataxia. They have a shortened life expectancy, although they tend to survive into adulthood.\n\nCLN2 disease is one of a group of disorders known as neuronal ceroid lipofuscinoses (NCLs), which may also be collectively referred to as Batten disease. All these disorders affect the nervous system and typically cause worsening problems with vision, movement, and thinking ability. The different NCLs are distinguished by their genetic cause. Each disease type is given the designation "CLN," meaning ceroid lipofuscinosis, neuronal, and then a number to indicate its subtype.\n\nCLN2 disease is an inherited disorder that primarily affects the nervous system. The signs and symptoms of this condition typically begin between ages 2 and 4. The initial features usually include recurrent seizures (epilepsy) and difficulty coordinating movements (ataxia). Affected children also develop muscle twitches (myoclonus) and vision loss. CLN2 disease affects motor skills, such as sitting and walking, and speech development. This condition also causes the loss of previously acquired skills (developmental regression), intellectual disability that gradually gets worse, and behavioral problems. Individuals with this condition often require the use of a wheelchair by late childhood and typically do not survive past their teens.|MedlinePlus Genetics|N|
C0027888|A group of slowly progressive inherited disorders affecting motor and sensory peripheral nerves. Subtypes include HMSNs I-VII. HMSN I and II both refer to CHARCOT-MARIE-Tooth DISEASE. HMSN III refers to hypertrophic neuropathy of infancy. HMSN IV refers to REFSUM DISEASE. HMSN V refers to a condition marked by a hereditary motor and sensory neuropathy associated with spastic paraplegia (see SPASTIC PARAPLEGIA, HEREDITARY). HMSN VI refers to HMSN associated with an inherited optic atrophy (OPTIC ATROPHIES, HEREDITARY), and HMSN VII refers to HMSN associated with retinitis pigmentosa. (From Adams et al., Principles of Neurology, 6th ed, p1343)|MONDO|N|
C0027889|An instance of sensory peripheral neuropathy that is caused by an inherited modification of the individual's genome.|MONDO|N|
C0027927|Infection of the brain or spinal cord by Treponema pallidum. It occurs many years following the original infection which remained untreated. Signs and symptoms include abnormal gait, blindness, depression, paralysis, seizures and dementia.|NCI|N|
C0027932|A form of functional mental illness that manifests in distressed emotional reactions such as anxiety, obsessive thoughts, compulsive behaviors, or irrational fears.|NCI|N|
C0027947|A decrease in the number of NEUTROPHILS found in the blood.|MSH|N|
C0027952|Indicates a person who has never been married or whose marriages have been annulled.|NCI|N|
C0027960|A nevus is a type of hamartoma that is a circumscribed stable malformation of the skin.|HPO|N|
C0027961|A dermal melanocytic hamartoma that presents as bluish hyperpigmentation on the face along the first or second branches of the trigeminal nerve. Nevus of Ota may involve the sclera.|HPO|N|
C0027962|A oval and round, colored (usually medium-to dark brown, reddish brown, or flesh colored) lesion. Typically, a melanocytic nevus is less than 6 mm in diameter, but may be much smaller or larger.|HPO|N|
C0027983|A condition caused by infection by the Newcastle disease virus, which may be characterized by conjunctivitis, respiratory illness, and diarrhea.|NCI|N|
C0028043|Nicotine addiction can be defined as a chronic, compulsive craving for nicotine and continued usage despite harmful consequences.|HPO|N|
C0028047|A condition which occurs following suspension of nicotine use. Clinical features may include nicotine craving, irritability, anxiety, depression and increased appetite. The onset of symptoms may be rapid with severity proportional to length and amount of nicotine use. Unsuccessful management of symptoms may prompt a return to nicotine use.|NCI|N|
C0028064|The phenotype of acid sphingomyelinase deficiency (ASMD) occurs along a continuum. Individuals with the severe early-onset form, infantile neurovisceral ASMD, were historically diagnosed with Niemann-Pick disease type A (NPD-A). The later-onset, chronic visceral form of ASMD is also referred to as Niemann-Pick disease type B (NPD-B). A phenotype with intermediate severity is also known as chronic neurovisceral ASMD (NPD-A/B). The most common presenting symptom in NPD-A is hepatosplenomegaly, usually detectable by age three months; over time the liver and spleen become massive in size. Psychomotor development progresses no further than the 12-month level, after which neurologic deterioration is relentless. Failure to thrive typically becomes evident by the second year of life. A classic cherry-red spot of the macula of the retina, which may not be present in the first few months, is eventually present in all affected children. Interstitial lung disease caused by storage of sphingomyelin in pulmonary macrophages results in frequent respiratory infections and often respiratory failure. Most children succumb before the third year of life. NPD-B generally presents later than NPD-A, and the manifestations are less severe. NPD-B is characterized by progressive hepatosplenomegaly, gradual deterioration in liver and pulmonary function, osteopenia, and atherogenic lipid profile. No central nervous system (CNS) manifestations occur. Individuals with NPD-A/B have symptoms that are intermediate between NPD-A and NPD-B. The presentation in individuals with NPD-A/B varies greatly, although all are characterized by the presence of some CNS manifestations. Survival to adulthood can occur in individuals with NPD-B and NPD-A/B.|GeneReviews|N|
C0028077|Inability to see well at night or in poor light.|HPO|N|
C0028081|Occurrence of excessive sweating during sleep.|HPO|N|
C0028084|Frightening dreams, typically occurring during REM sleep, are normal and common in children under 10. However, they can also impact teenagers and adults.|HPO|N|
C0028198|Conversion into nitroso compounds. An example is the reaction of nitrites with amino compounds to form carcinogenic N-nitrosamines.|MSH|N|
C0028242|Nocardiosis is a local (skin, lung, brain) or disseminated (whole body) acute, subacute, or chronic bacterial infection.|ORDO|N|
C0028271|Noma is a gangrenous disease that causes severe destruction of the soft and osseous tissues of the face.|ORDO|N|
C0028283|Hemolytic anemia that is not mediated by immune mechanisms.|NCI|N|
C0028309|Cysts formed from epithelial inclusions in the lines of fusion of the embryonic processes which form the jaws. They include nasopalatine or incisive canal cyst, incisive papilla cyst, globulomaxillary cyst, median palatal cyst, median alveolar cyst, median mandibular cyst, and nasoalveolar cyst.|MSH|N|
C0028326|Noonan syndrome (NS) is characterized by characteristic facies, short stature, congenital heart defect, and developmental delay of variable degree. Other findings can include broad or webbed neck, unusual chest shape with superior pectus carinatum and inferior pectus excavatum, cryptorchidism, varied coagulation defects, lymphatic dysplasias, and ocular abnormalities. Although birth length is usually normal, final adult height approaches the lower limit of normal. Congenital heart disease occurs in 50%-80% of individuals. Pulmonary valve stenosis, often with dysplasia, is the most common heart defect and is found in 20%-50% of individuals. Hypertrophic cardiomyopathy, found in 20%-30% of individuals, may be present at birth or develop in infancy or childhood. Other structural defects include atrial and ventricular septal defects, branch pulmonary artery stenosis, and tetralogy of Fallot. Up to one fourth of affected individuals have mild intellectual disability, and language impairments in general are more common in NS than in the general population.|GeneReviews|N|
C0028425|A rare, severe form of scabies that is associated with immunosuppression. It is characterized by an immense number of mites and hyperkeratotic crusted lesions, and is usually accompanied by lymphadenopathy and eosinophilia.|NCI|N|
C0028432|A disease involving the nose.|MONDO|N|
C0028433|Tumor (An abnormal mass of tissue resulting from abnormally dividing cells) of the nasal cavity.|HPO|N|
C0028605|The reformation of all, or part of, the native conformation of a nucleic acid molecule after the molecule has undergone denaturation.|MSH|N|
C0028643|A loss of the sensation of feeling in an area of the body.|NCI|N|
C0028684|Conclusions derived from the nursing assessment that establish a health status profile for the patient and from which nursing interventions may be ordered.|MSH|N|
C0028715|A collective term for nutritional disorders resulting from poor absorption or nutritional imbalance, and metabolic disorders resulting from defects in biosynthesis (ANABOLISM) or breakdown (CATABOLISM) of endogenous substances.|MSH|N|
C0028734|Abnormally increased production of urine during the night leading to an unusually frequent need to urinate.|HPO|N|
C0028738|Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.|HPO|N|
C0028754|Accumulation of substantial excess body fat.|HPO|N|
C0028756|An excess of body weight, normally defined as an individual with a body mass index greater than 35 or a body weight greater than one hundred percent of ideal body weight.|NCI|N|
C0028768|Obsessive-compulsive disorder (OCD) is characterized by recurring obsessions and/or compulsions and has been estimated to affect nearly 5 million people in the United States (Karno et al., 1988). Evidence for a strong genetic component in OCD comes from twin studies, family genetics studies, and segregation analyses, as reviewed by Alsobrook et al. (2002).
Zhang et al. (2002) suggested that hoarding is likely to be an evolutionarily conserved trait that, in times of adversity, was associated with increased survival and reproductive fitness. However, extreme forms of this trait are associated with marked disability and poor response to treatment (Black et al., 1998; Mataix-Cols et al., 1999).|OMIM|N|
C0028778|Blockage of the normal flow of the contents of an anatomical passageway.|NCI|N|
C0028796|Contact dermatitis associated with allergens or irritants found in the workplace.|NCI|N|
C0028797|Any disorder that is realized in response to an exposure to occupation.|MONDO|N|
C0028817|Brown or blue-gray discoloration of the skin that can present on the axillary and inguinal areas, face, palms or soles. In addition, blue-black discoloration can be apparent on skin overlying cartilage in which the pigment is deposited, such as the ears. This is a characteristic manifestation of alkaptonuria, which is an autosomal recessively inherited deficiency of homogentisic acid oxidase that results in accumulation of homogentisic acid in collagenous structures. The sclerae are also typically involved.|HPO|N|
C0028840|Abnormally high intraocular pressure.|NCI|N|
C0028841|An abnormal decrease of the pressure within the eye.|HPO|N|
C0028850|Disorders that feature impairment of eye movements as a primary manifestation of disease. These conditions may be divided into infranuclear, nuclear, and supranuclear disorders. Diseases of the eye muscles or oculomotor cranial nerves (III, IV, and VI) are considered infranuclear. Nuclear disorders are caused by disease of the oculomotor, trochlear, or abducens nuclei in the BRAIN STEM. Supranuclear disorders are produced by dysfunction of higher order sensory and motor systems that control eye movements, including neural networks in the CEREBRAL CORTEX; BASAL GANGLIA; CEREBELLUM; and BRAIN STEM. Ocular torticollis refers to a head tilt that is caused by an ocular misalignment. Opsoclonus refers to rapid, conjugate oscillations of the eyes in multiple directions, which may occur as a parainfectious or paraneoplastic condition (e.g., OPSOCLONUS-MYOCLONUS SYNDROME). (Adams et al., Principles of Neurology, 6th ed, p240)|MSH|N|
C0028860|Lowe syndrome (oculocerebrorenal syndrome) is characterized by involvement of the eyes, central nervous system, and kidneys. Dense congenital cataracts are found in all affected boys and infantile glaucoma in approximately 50%. All boys have impaired vision; corrected acuity is rarely better than 20/100. Generalized hypotonia is noted at birth and is of central (brain) origin. Deep tendon reflexes are usually absent. Hypotonia may slowly improve with age, but normal motor tone and strength are never achieved. Motor milestones are delayed. Almost all affected males have some degree of intellectual disability; 10%-25% function in the low-normal or borderline range, approximately 25% in the mild-to-moderate range, and 50%-65% in the severe-to-profound range of intellectual disability. Affected males have varying degrees of proximal renal tubular dysfunction of the Fanconi type, including low molecular-weight (LMW) proteinuria, aminoaciduria, bicarbonate wasting and renal tubular acidosis, phosphaturia with hypophosphatemia and renal rickets, hypercalciuria, sodium and potassium wasting, and polyuria. The features of symptomatic Fanconi syndrome do not usually become manifest until after the first few months of life, except for LMW proteinuria. Glomerulosclerosis associated with chronic tubular injury usually results in slowly progressive chronic renal failure and end-stage renal disease between the second and fourth decades of life.|GeneReviews|N|
C0028866|Reduced ability to control the movement of the eye associated with damage to the third cranial nerve (the oculomotor nerve).|HPO|N|
C0028879|A cyst in the jaw that arises from tissues of tooth development.|NCI|N|
C0028880|Neoplasm involving odontogenic cells, an odontogenic tumor.|HPO|N|
C0028882|The presence of an odontoma.|HPO|N|
C0028887|Infection of the intestinal tract with worms of the genus oesophagostomum. This condition occurs mainly in animals other than humans.|MONDO|N|
C0028945|Oligodendroglioma is a type of diffusely infiltrating glioma and constitutes approximately 5% of primary intracranial tumors. They often involve the cortical gray matter and are most commonly seen in the frontal lobes. OGs are generally low grade WHO grade II neoplasms that are slow-growing tumors and have a favorable treatment response when compared to other gliomas. Grade III anaplastic OG is a more malignant form of the tumor which portends a less favorable prognosis and may occur de novo or as degeneration from the lower grade OG.|HPO|N|
C0028949|Infrequent menses (less than 6 per year or more than 35 days between cycles).|HPO|N|
C0028960|Reduced count of spermatozoa in the semen, defined as a sperm count below 20 million per milliliter semen.|HPO|N|
C0028961|Low output of urine, clinically classified as an output below 300-500ml/day.|HPO|N|
C0028968|Neuronal degeneration in the cerebellum, pontine nuclei, and inferior olivary nucleus.|HPO|N|
C0028992|Inflammation of the umbilical cord stump in newborns.|MONDO|N|
C0029001|A form of filariasis, caused by the parasitic worm <i> Onchocerca volvulus</i>, transmitted by the black fly. The infection can either be asymptomatic or manifest as an ocular disease (river blindness) with itchy eyes, erythema, photophobia, onchodermatitis or onchocercal skin disease (classified into acute papular, chronic papular, lichenified, atrophic, and depigmentated) and onchocercomas (over bony prominences). Other classic clinical manifestations are ichthyosis-like lesions (''lizard skin'') and ''hanging groin'', which may be associated with lymphadenopathy.|ORDO|N|
C0029002|Onchocerciasis affecting the eye.|NCI|N|
C0029051|An inflammation of the ovary or ovaries.|HPO|N|
C0029053|The quality of being opaque to a degree; the degree to which something reduces the passage of light.|NCI|N|
C0029076|Inflammation of the conjunctiva in a newborn due to chemical or infectious causes. Aseptic conjunctivitis is often related to the use of prophylactic medications for infectious conjunctivitis. Septic conjunctivitis is related to perinatal exposure to microorganisms.|NCI|N|
C0029077|Sympathetic ophthalmia (SO) is a bilateral granulomatous anterior uveitis usually occurring within the three months following trauma or a surgical procedure involving one eye.|ORDO|N|
C0029089|Paralysis of one or more extraocular muscles that are responsible for eye movements.|HPO|N|
C0029095|A substance abuse that involves the recurring use of opioid drugs despite negative consequences.|MONDO|N|
C0029106|Infection with flukes of the genus Opisthorchis.|MONDO|N|
C0029118|An infection that is caused by a pathogen that would generally not be able to cause an infection in a host with a normal immune system. Such pathogens take advantage of the opportunity, so to speak, that is provided by a weakened immune system.|HPO|N|
C0029119|A mycosis that arises from infection in an immunologically compromised host.|MONDO|N|
C0029121|An enduring pattern of uncooperative, defiant, and hostile behavior towards authority figures that does not involve major antisocial violations, is not accounted for by the child's developmental stage, and results in significant functional impairment. A certain level of oppositional behavior is common in children and adolescents.|HPO|N|
C0029124|Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy.|HPO|N|
C0029125|A family of inherited disorders characterized by progressive loss of vision secondary to death of the retinal ganglion cell axons that comprise the optic nerve.|NCI|N|
C0029128|Optic disc drusen are acellular, calcified deposits within the optic nerve head. Optic disc drusen are congenital and developmental anomalies of the optic nerve head, representing hyaline-containing bodies that, over time, appear as elevated, lumpy irregularities on the anterior portion of the optic nerve.|HPO|N|
C0029131|Abnormality of the optic nerve.|HPO|N|
C0029132|A non-neoplastic or neoplastic disorder affecting the optic nerve (second cranial nerve).|NCI|N|
C0029134|Inflammation of the optic nerve.|HPO|N|
C0029151|agent taken orally that prevents conception or diminishes its likelihood; may be designed for either male or female.|CSP|N|
C0029162|The optimal state of the mouth and normal functioning of the organs of the mouth without evidence of disease.|MSH|N|
C0029163|Bleeding originating from the mouth.|NCI|N|
C0029166|Disorders of the mouth attendant upon non-oral disease or injury.|MSH|N|
C0029171|Chronic, progressive, debilitating and non-reversible fibrosis of the submucosal tissues of the mouth. It is associated with chewing betel quid, a habit practiced in Southeast Asia and India. It is a precancerous condition and results in rigidity of the jaws and inability of the affected individual to open the mouth.|NCI|N|
C0029172|Oral submucous fibrosis (OSMF) is a chronic, progressive disease that alters the fibroelasticity of the oral submucosa, prevalent in India and Southeast Asia but rare elsewhere, and characterized by burning and pain in the oral cavity, loss of gustatory sensation, the presence of blanched fibrous bands and stiffening of the oral mucosa and oro-pharynx (leading to trismus and a progressive reduction in mouth opening) and an increased risk of developing oral squamous cell cancer (3-19%). It is usually associated with the chewing of the areca nut (an ingredient in betel quid) but the exact etiology is unknown and there is currently no effective treatment.|ORDO|N|
C0029182|Diseases of the bony orbit and contents except the eyeball.|MONDO|N|
C0029184|A partial or complete breakage of the orbit of skull.|HPO|N|
C0029185|A benign or malignant neoplasm that affects the orbit.|NCI|N|
C0029191|Testicular inflammation.|HPO|N|
C0029218|A measurement of the heaviness of a body organ.|NCI|N|
C0029221|A mental disorder caused by intrinsic disease which is characterized by acute or chronic impairment of intellectual functioning, behavior, mood or judgment. It is attributable to a medical etiology and excludes a primary psychiatric cause. A chronic course usually correlates to a poorer prognosis.|NCI|N|
C0029225|A mental disorder caused by intrinsic disease which is characterized by persistent or recurrent irrational beliefs. Consciousness and memory are not affected. It may be broadly classified as a psychotic disorder due to a general medical condition.|NCI|N|
C0029227|Any decrease in mental functioning in which the cause is not attributable to psychiatric illness, which includes damage from physical trauma, anoxic injury, damage from chemicals or toxins, infection, cancer, and degenerative diseases, including Alzheimer''s disease, Huntington''s disease, Parkinson''s disease, and Creutzfeldt-Jakob disease.|NCI|N|
C0029232|A mental disorder caused by intrinsic disease which is characterized by persistent alterations in mood that are directly attributable to the disease itself rather than a response to knowledge of the disease or other co-morbidity. It may be broadly classified as a depressive or bipolar disorder due to a general medical condition.|NCI|N|
C0029233|A mental disorder caused by intrinsic disease which is characterized by persistent alteration of a known behavioral pattern. Changes in emotional stability, motivation, judgment or impulse control are usually noted. It is broadly classified as a personality change due to a general medical condition.|NCI|N|
C0029261|A change in the ability to obtain orgasm or in the quality of the orgasmic sensation.|NCI|N|
C0029291|Disease caused by the Chlamydophila psittaci bacteria, usually transmitted from birds to humans.|NCI|N|
C0029293|A fistula between the maxillary sinus and the oral cavity.|MSH|N|
C0029294|Oral-facial-digital syndrome is actually a group of related conditions that affect the development of the oral cavity (the mouth and teeth), facial features, and digits (fingers and toes).\n\nResearchers have identified at least 13 potential forms of oral-facial-digital syndrome. The different types are classified by their patterns of signs and symptoms. However, the features of the various types overlap significantly, and some types are not well defined. The classification system for oral-facial-digital syndrome continues to evolve as researchers find more affected individuals and learn more about this disorder.\n\nThe signs and symptoms of oral-facial-digital syndrome vary widely. However, most forms of this disorder involve problems with development of the oral cavity, facial features, and digits. Most forms are also associated with brain abnormalities and some degree of intellectual disability.\n\nAbnormalities of the oral cavity that occur in many types of oral-facial-digital syndrome include a split (cleft) in the tongue, a tongue with an unusual lobed shape, and the growth of noncancerous tumors or nodules on the tongue. Affected individuals may also have extra, missing, or defective teeth. Another common feature is an opening in the roof of the mouth (a cleft palate). Some people with oral-facial-digital syndrome have bands of extra tissue (called hyperplastic frenula) that abnormally attach the lip to the gums.\n\nDistinctive facial features often associated with oral-facial-digital syndrome include a split in the lip (a cleft lip); a wide nose with a broad, flat nasal bridge; and widely spaced eyes (hypertelorism).\n\nAbnormalities of the digits can affect both the fingers and the toes in people with oral-facial-digital syndrome. These abnormalities include fusion of certain fingers or toes (syndactyly), digits that are shorter than usual (brachydactyly), or digits that are unusually curved (clinodactyly). The presence of extra digits (polydactyly) is also seen in most forms of oral-facial-digital syndrome.\n\nOther features occur in only one or a few types of oral-facial digital syndrome. These features help distinguish the different forms of the disorder. For example, the most common form of oral-facial-digital syndrome, type I, is associated with polycystic kidney disease. This kidney disease is characterized by the growth of fluid-filled sacs (cysts) that interfere with the kidneys' ability to filter waste products from the blood. Other forms of oral-facial-digital syndrome are characterized by neurological problems, particular changes in the structure of the brain, bone abnormalities, vision loss, and heart defects.|MedlinePlus Genetics|N|
C0029295|A benign or malignant neoplasm that affects the oropharynx.|NCI|N|
C0029307|An infection that is caused by Bartonella bacilliformis, which is transmitted to humans from infected sandflies. The acute phase (Oroya Fever) is characterized by fever, headache, myalgia, enlargement of the lymph nodes, and anemia. The chronic phase (verruga peruana/Peruvian wart) is characterized by benign, eruptive lesions that are bleeding and pruritic, arthralgia, and malaise.|NCI|N|
C0029342|Virus diseases caused by the ORTHOMYXOVIRIDAE.|MSH|N|
C0029376|Morbus Osgood-Schlatter is a Juvenile aseptic necrosis affecting the Tuberositas tibiae.|HPO|N|
C0029396|Formation of abnormal, extraskeletal bony tissue, i.e., the presence of bone in soft tissue where bone normally does not exist.|HPO|N|
C0029400|Inflammation of the bone.|MONDO|N|
C0029401|Paget disease of bone is a disorder that causes bones to grow larger and weaker than normal. Affected bones may be misshapen and easily broken (fractured).\n\nThe classic form of Paget disease of bone typically appears in middle age or later. It usually occurs in one or a few bones and does not spread from one bone to another. Any bones can be affected, although the disease most commonly affects bones in the spine, pelvis, skull, or legs.\n\nMany people with classic Paget disease of bone do not experience any symptoms associated with their bone abnormalities. The disease is often diagnosed unexpectedly by x-rays or laboratory tests done for other reasons. People who develop symptoms are most likely to experience pain. The affected bones may themselves be painful, or pain may be caused by arthritis in nearby joints. Arthritis results when the distortion of bones, particularly weight-bearing bones in the legs, causes extra wear and tear on the joints. Arthritis most frequently affects the knees and hips in people with this disease.\n\nOther complications of Paget disease of bone depend on which bones are affected. If the disease occurs in bones of the skull, it can cause an enlarged head, hearing loss, headaches, and dizziness. If the disease affects bones in the spine, it can lead to numbness and tingling (due to pinched nerves) and abnormal spinal curvature. In the leg bones, the disease can cause bowed legs and difficulty walking.\n\nEarly-onset Paget disease of bone is a less common form of the disease that appears in a person's teens or twenties. Its features are similar to those of the classic form of the disease, although it is more likely to affect the skull, spine, and ribs (the axial skeleton) and the small bones of the hands. The early-onset form of the disorder is also associated with hearing loss early in life.\n\nA rare type of bone cancer called osteosarcoma has been associated with Paget disease of bone. This type of cancer probably occurs in less than 1 in 1,000 people with this disease.|MedlinePlus Genetics|N|
C0029405|A disorder that is characterized by bone cysts and fractures, resulting from hyperparathyroidism.|NCI|N|
C0029408|Osteoarthritis (OA) is a degenerative disease of the joints characterized by degradation of the hyaline articular cartilage and remodeling of the subchondral bone with sclerosis (Meulenbelt et al., 2006). Clinical problems include pain and joint stiffness often leading to significant disability and joint replacement. Osteoarthritis exhibits a clear predilection for specific joints; it appears most commonly in the hip and knee joints and lumbar and cervical spine, as well as in the distal interphalangeal and the first carpometacarpal (base of thumb) and proximal interphalangeal joints of the hand; however, patients with osteoarthritis may have 1, a few, or all of these sites affected (Stefansson et al., 2003). According to a conservative estimate, greater than 70% of the population of the United States at age 65 years is affected by the disease, reflecting its age dependence.
Genetic Heterogeneity of Susceptibility to Osteoarthritis
Susceptibility to osteoarthritis has been associated with variation in other genes: OS2 (140600) with variation in the MATN3 gene (602109) on chromosome 2p24; OS3 (607850) with variation in the ASPN gene (608135) on chromosome 9q22; and OS5 (612400) with variation in the GDF5 gene (601146) on chromosome 20q11.
Other susceptibility loci for osteoarthritis have been mapped to chromosomes 2q33 (OS4; 610839) and 3p24 (OS6; 612401).|OMIM|N|
C0029410|Osteoarthritis of the hip joint.|NCI|N|
C0029411|A form of primary hypertrophic osteoarthropathy, a rare hereditary disorder with characteristics of digital clubbing, pachydermia and subperiosteal new bone formation associated with pain, polyarthritis, cutis verticis gyrata, seborrhoea and hyperhidrosis. Three forms have been described: a complete form with pachydermia and periostitis, an incomplete form with evidence of bone abnormalities but lacking pachydermia, and a forme frusta with prominent pachydermia and minimal-to-absent skeletal changes. The disease typically begins during childhood or adolescence and may stabilise after 5-20 years of progression, or progress constantly. Mutations in the HPGD gene (4q33-q34) have been identified. The gene encodes 15-hydroxyprostaglandin dehydrogenase (15-PGDH), the main enzyme of prostaglandin degradation. Inherited as an autosomal recessive trait.|SNOMEDCT_US|N|
C0029412|Symmetrical osteitis of the four limbs, chiefly localized to the phalanges and the terminal epiphyses of the long bones of the forearm and leg, sometimes extending to the proximal ends of the limbs and the flat bones, and accompanied by dorsal kyphosis and joint involvement. It is often secondary to chronic conditions of the lungs and heart. (Dorland, 27th ed)|MONDO|N|
C0029417|A benign, painful, tumor of bone characterized by the formation of osteoid tissue, primitive bone and calcified tissue.|HPO|N|
C0029420|Inflammation of the bone and cartilage.|NCI|N|
C0029421|A joint disorder caused by blood deprivation in the subchondral bone causing the subchondral bone to die in a process called avascular necrosis. The bone is then reabsorbed by the body, leaving the articular cartilage it supported prone to damage. The result is fragmentation (dissection) of both cartilage and bone, and the free movement of these osteochondral fragments within the joint space, causing pain and further damage.|HPO|N|
C0029422|A term referring to disorders characterized by abnormalities in the development of bones and cartilage.|NCI|N|
C0029423|A cartilage capped bony outgrowth of a long bone. Osteochondroma arises on the external surface of bone containing a marrow cavity that is continuous with that of the underlying bone.|HPO|N|
C0029429|Abnormal growth ossification centers in children. Initially a degeneration/ necrosis followed by regeneration or recalcification.|HPO|N|
C0029434|COL1A1/2 osteogenesis imperfecta (COL1A1/2-OI) is characterized by fractures with minimal or absent trauma, variable dentinogenesis imperfecta (DI), and, in adult years, hearing loss. The clinical features of COL1A1/2-OI represent a continuum ranging from perinatal lethality to individuals with severe skeletal deformities, mobility impairments, and very short stature to nearly asymptomatic individuals with a mild predisposition to fractures, normal dentition, normal stature, and normal life span. Fractures can occur in any bone but are most common in the extremities. DI is characterized by gray or brown teeth that may appear translucent, wear down, and break easily. COL1A1/2-OI has been classified into four types based on clinical presentation and radiographic findings. This classification system can be helpful in providing information about prognosis and management for a given individual. The four more common OI types are now referred to as follows: Classic non-deforming OI with blue sclerae (previously OI type I). Perinatally lethal OI (previously OI type II). Progressively deforming OI (previously OI type III). Common variable OI with normal sclerae (previously OI type IV).|GeneReviews|N|
C0029436|Syndromes of bone destruction where the cause is not obvious such as neoplasia, infection, or trauma. The destruction follows various patterns: massive (Gorham disease), multicentric (hajdu-cheney syndrome), or carpal/tarsal.|MONDO|N|
C0029438|Gorham-Stout disease (GSD) is a rare disease of massive osteolysis associated with proliferation and dilation of lymphatic vessels. GSD may affect any bone in the body and can be monostotic or polyostotic. Symptoms at presentation are dependent upon the location(s) of the disease; the most common symptom is localized pain. The disease may be discovered after a pathological fracture.|ORDO|N|
C0029440|Osteomas are bony growths found most commonly on the skull and mandible; however, they may occur in any bone of the body. Osteomas do not usually cause clinical problems and do not become malignant.|HPO|N|
C0029441|A bening tumor of bone composed of a central zone named nidus which is an atypical bone completely enclosed within a well vascularized stroma and a peripheral sclerotic reaction zone.|HPO|N|
C0029442|Osteomalacia is a general term for bone weakness owing to a defect in mineralization of the protein framework known as osteoid. This defective mineralization is mainly caused by lack in vitamin D. Osteomalacia in children is known as rickets.|HPO|N|
C0029443|Osteomyelitis is an inflammatory process accompanied by bone destruction and caused by an infecting microorganism.|HPO|N|
C0029445|Death of bone tissue due to traumatic or nontraumatic causes.|NCI|N|
C0029453|Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5.|HPO|N|
C0029454|Abnormally increased formation of dense trabecular bone tissue. Despite the increased density of bone tissue, osteopetrotic bones tend to be more fracture-prone than normal.|HPO|N|
C0029455|Osteopoikilosis is a benign, asymptomatic sclerotic dysplasia of the bones. It affects both male and female and may be seen at any age. Radiographically sclerotic circular or ovoid lesions are usually symmetrically distributed in a periarticular location. Lesions can increase or decrease in size and number in serial radiographs or even disappear and do not have increased bone radiotracer uptake.|HPO|N|
C0029456|Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD).|HPO|N|
C0029458|Metabolic disorder associated with fractures of the femoral neck, vertebrae, and distal forearm. It occurs commonly in women within 15-20 years after menopause, and is caused by factors associated with menopause including estrogen deficiency.|MONDO|N|
C0029461|Necrosis of bone following exposure to a source of radiation.|NCI|N|
C0029463|A malignant bone tumor that usually develops during adolescence and usually affects the long bones including the tibia, femur, and humerus. The typical symptoms of osteosarcoma comprise bone pain, fracture, limitation of motion, and tenderness or swelling at the site of the tumor.|HPO|N|
C0029464|An abnormal increase of bone mineral density, that is, of the amount of matter per cubic centimeter of bones which is often referred to as osteosclerosis. Osteosclerosis can be detected on radiological examination as an increased whiteness (density) of affected bones.|HPO|N|
C0029471|A disease of herbivorous mammals, particularly cattle and sheep, caused by stomach worms of the genus ostertagia.|MONDO|N|
C0029877|Inflammation of the ear, which may be marked by pain (EARACHE), fever, HEARING DISORDERS, and VERTIGO. Inflammation of the external ear is OTITIS EXTERNA; of the middle ear, OTITIS MEDIA; of the inner ear, LABYRINTHITIS.|MSH|N|
C0029878|Inflammation or infection of the external auditory canal (EAC), the auricle, or both.|HPO|N|
C0029882|Inflammation or infection of the middle ear.|HPO|N|
C0029883|Middle ear is filled with glue-like fluid instead of air.|HPO|N|
C0029888|Inflammation of the middle ear with purulent discharge.|MONDO|N|
C0029895|Fungus infection of the external ear, usually by aspergillus species|MONDO|N|
C0029896|Pathological processes of the ear, the nose, and the throat, also known as the ENT diseases.|MSH|N|
C0029897|A general concept for tumors or cancer of any part of the EAR; the NOSE; the THROAT; and the PHARYNX. It is used when there is no specific heading.|MSH|N|
C0029899|Clinical otosclerosis, the single most common cause of hearing impairment, is characterized by isolated endochondral bone sclerosis of the labyrinthine capsule. Otosclerotic foci invade the stapediovestibular joint (oval window) and interfere with free motion of the stapes. Mean age of onset is in the third decade and 90% of affected persons are under 50 years of age at the time of diagnosis. Approximately 10% of affected persons develop profound sensorineural hearing loss across all frequencies (summary by Tomek et al., 1998).
Genetic Heterogeneity of Otosclerosis
The locus associated with otosclerosis-1 (OTSC1) has been mapped to chromosome 15q26.1. Other loci associated with otosclerosis include OTSC2 (605727) on chromosome 7q; OTSC3 (608244) on chromosome 6p; OTSC4 (611571) on chromosome 16q; OTSC5 (608787) on chromosome 3q22-q24; OTSC7 (611572) on chromosome 6q13; OTSC8 (612096) on chromosome 9p13.1-q21.11; and OTSC10 (615589) on chromosome 1q41-q44.
OTSC11 (620576) is caused by mutation in the FOXL1 gene (603252) on chromosome 16q24. OTSC12 (620792) is caused by mutation in the SMARCA4 gene (603254) on chromosome 19p13.
The symbols OTSC6 and OTSC9 were reserved by the HUGO Gene Nomenclature Committee on January 30, 2003 and February 10, 2009, respectively, for as yet unpublished loci for otosclerosis.|OMIM|N|
C0029927|The presence of one or more cysts of the ovary.|HPO|N|
C0029928|A non-neoplastic or neoplastic disorder that affects the ovary. Representative examples of non-neoplastic disorders include endometriosis and polycystic ovarian disease. Representative examples of neoplastic disorders include ovarian surface epithelial-stromal tumors, germ cell tumors, and sex cord-stromal tumors.|NCI|N|
C0030011|The process of oxidizing; the addition of oxygen to a compound accompanied by a loss of electrons.|NCI|N|
C0030012|All electron-transfer reactions are considered oxidation/reduction reactions. The substance gaining electrons (""oxidizing agent"" or ""oxidant"") is oxidizing the substance that is losing electrons (""reducing agent"" or ""reductant""). In the process, the ""oxidizing agent"" is itself reduced by the ""reducing agent.""|NCI|N|
C0030013|Electron transfer through the cytochrome system liberating free energy which is transformed into high-energy phosphate bonds.|MSH|N|
C0030044|Premature closing of the lambdoid and coronal sutures.|MSH|N|
C0030100|Infection with nematodes of the superfamily OXYUROIDEA.|MSH|N|
C0030185|A malignant neoplasm in which there is infiltration of the skin overlying the breast by neoplastic large cells with abundant pale cytoplasm and large nuclei with prominent nucleoli (Paget cells). It is almost always associated with an intraductal or invasive ductal carcinoma of the breast. The clinical features include focal skin reddening, and eczema. Retraction of the nipple may sometimes occur.|NCI|N|
C0030186|A rare skin tumor characterized by predominantly intraepithelial growth of an adenocarcinoma which may either arise primarily in the skin (primary extramammary Paget disease) or result from intraepithelial spread of a visceral carcinoma (secondary extramammary Paget disease). The lesion is typically located in the anogenital region, presenting as a scaly, oozing, pruritic or painful erythematous plaque often resembling eczema. It may exhibit an invasive component with a significant risk of lymph node metastasis.|ORDO|N|
C0030193|An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage.|HPO|N|
C0030196|Chronic pain in the limbs with no clear focal etiology.|HPO|N|
C0030200|Persistent pain that is refractory to some or all forms of treatment.|MSH|N|
C0030201|A sensation of discomfort secondary to surgery.|NCI|N|
C0030214|Palatal tremor (PT) is an involuntary, rhythmic and oscillatory movement of the soft palate. PT is a rare type of tremor involving the soft palate. It can be unilateral or bilateral.|HPO|N|
C0030215|A neoplasm that affects the hard palate, soft palate, or uvula.|HPO|N|
C0030232|Abnormally pale skin.|HPO|N|
C0030246|A chronic, relapsing, pustular eruption that is localized to the palms and soles.|HPO|N|
C0030252|A sensation that the heart is pounding or racing, which is a non-specific sign but may be a manifestation of arrhythmia.|HPO|N|
C0030271|A rare neoplastic syndrome characterized by obstruction of the thoracic outlet leading to compression of the brachial plexus and vessels within. It is usually caused by a malignant neoplasm in the superior pulmonary sulcus. The most commonly involved neoplasms are non-small cell lung carcinomas. Clinical signs include Horner''s syndrome, shoulder pain radiating down the arm in the ulnar distribution followed by edema and atrophy of the affected extremity. Clinical course usually leads to early local invasion of the bony thoracic structures. Prognosis is highly stage-dependent.|NCI|N|
C0030283|A cyst of the pancreas that possess a lining of mucous epithelium.|HPO|N|
C0030286|A non-neoplastic or neoplastic disorder that affects the pancreas. Representative examples of non-neoplastic disorders include pancreatitis and pancreatic insufficiency. Representative examples of neoplastic disorders include cystadenomas, carcinomas, lymphomas, and neuroendocrine neoplasms.|NCI|N|
C0030290|An abnormal communication between the pancreas and another organ or cavity.|NCI|N|
C0030297|A tumor (abnormal growth of tissue) of the pancreas.|HPO|N|
C0030299|Cyst-like space not lined by epithelium and contained within the pancreas. Pancreatic pseudocysts are often associated with pancreatitis.|HPO|N|
C0030305|The presence of inflammation in the pancreas.|HPO|N|
C0030312|An abnormal reduction in numbers of all blood cell types (red blood cells, white blood cells, and platelets).|HPO|N|
C0030318|A sudden and overwhelming sense of fear characterized by the inability to function as normal.|NCI|N|
C0030319|An anxiety disorder characterized by multiple unexpected panic attacks with persistent concern of recurring attacks. Panic disorder may or may not be accompanied by agoraphobia.|NCI|N|
C0030326|Inflammation of subcutaneous adipose tissue.|HPO|N|
C0030327|A rare form of chronic cutaneous lupus erythematosus characterized by recurrent, indurated, erythematous plaques and subcutaneous nodules with normal overlying epidermis, occurring predominantly on the face, upper arms, trunk, buttocks, and thighs. The lesions can ulcerate and lead to scarring. Histological findings include lobular lymphocytic panniculitis, hyaline fat necrosis, mucin deposition, and calcification. The condition may be associated with discoid or systemic lupus erythematosus.|ORDO|N|
C0030328|A rare skin disorder characterized by recurring inflammation in the subcutaneous layer of fat.|ORDO|N|
C0030330|A disorder characterized by chronic inflammation and fibrosis of the adipose tissues in the peritoneal cavity.|NCI|N|
C0030332|Acute suppurative inflammation of the inner eye with necrosis of the sclera (and sometimes the cornea) and extension of the inflammation into the orbit. Pain may be severe and the globe may rupture. In endophthalmitis the globe does not rupture.|MONDO|N|
C0030343|Inflammation of the uveal tract in which inflammation affects the anterior chamber, vitreous, retina or choroid.|HPO|N|
C0030353|Papilledema refers to edema (swelling) of the optic disc secondary to any factor which increases cerebral spinal fluid pressure.|HPO|N|
C0030354|A tumor of the skin or mucous membrane with finger-like projections.|HPO|N|
C0030357|A rabbit papilloma that is associated with infection by the Shope papilloma virus.|NCI|N|
C0030360|Papillion-Lefevre syndrome (PALS) is an autosomal recessive disorder characterized by palmoplantar keratoderma, periodontitis, and premature loss of dentition (summary by Lefevre et al., 2001).|OMIM|N|
C0030364|An infection caused by any papovavirus.|NCI|N|
C0030372|Influenza-like febrile viral disease caused by several members of the bunyaviridae family and transmitted mostly by the bloodsucking sandfly Phlebotomus papatasii.|MONDO|N|
C0030409|A rare mycosis characterized by an acute form mostly occurring in children and young adults presenting with fever, weight loss, lymph node enlargement, hepatosplenomegaly, and bone marrow dysfunction, versus a chronic form which usually involves the lungs and mucosae of the upper respiratory tract, skin, lymph nodes, and adrenal glands, but may affect any part of the body. The most common sequelae are chronic respiratory insufficiency and Addison's disease. The infectious agent, <i>Paracoccidioides brasiliensis</i>, is a fungus limited to Latin America.|ORDO|N|
C0030421|A carotid body tumor (also called paraganglionoma or chemodectoma) is a tumor found in the upper neck at the branching of the carotid artery. They arise from the chemoreceptor organ (paraganglion) located in the adventitia of the carotid artery bifurcation.|HPO|N|
C0030422|A paraganglioma arising from sympathetic or parasympathetic paraganglia outside the adrenal gland.|NCI|N|
C0030424|A parasitic infection caused by trematodes of the Paragonimus genus. Humans are infected from ingestion of raw or undercooked food. It results in chronic lung infection and eosinophilia.|NCI|N|
C0030436|Abnormal formation of the keratinocytes of the epidermis characterized by persistence of nuclei, incomplete formation of keratin, and moistness and swelling of the keratinocytes.|HPO|N|
C0030442|A progressive motor neuron disorder affecting the muscles which are innervated by cranial nerves of the lower brain stem. Signs and symptoms include difficulties in chewing and swallowing, dysarthria, and weakness of the facial muscles and tongue.|NCI|N|
C0030443|A group of genetic neurological disorders caused by mutations in genes involved in the sodium and calcium channels in nerve cells. It is characterized by episodes of muscle paralysis in which the affected muscles become flaccid and the deep tendon reflexes disappear. Between the episodes the affected muscles usually work normally.|NCI|N|
C0030446|An ileus caused by abdominal or pelvic surgery, infections, disorders that affect the muscles and nerves, and medications. Signs and symptoms include those of intestinal obstruction.|NCI|N|
C0030455|Inflammation of the parametrium, the connective tissue of the pelvic floor, extending from the subserous coat of the uterus laterally between the layers of the broad ligament.|MONDO|N|
C0030469|A non-neoplastic or neoplastic disorder affecting the paranasal sinuses. Examples include inflammation, polyps, and cancer.|NCI|N|
C0030470|A tumor that originates in the paranasal sinus.|HPO|N|
C0030472|A classification for rare disorders of diverse organ systems (endocrine, neuromuscular, gastrointestinal, renal, dermatologic, rheumatologic, hematologic) that are affected by substances secreted by a distant neoplasm but not by the action of the neoplasm itself metastasizing to that organ or tissue. Less than 1 % of neoplasms are associated with these syndromes. An immune-mediated response to neoplasm-elaborated proteins may be the cause of these syndromes. Additionally, their manifestation may signal the presence of an occult neoplasm, potentially at an earlier stage of disease thereby leading to a better clinical outcome. Constitutional signs may include fever, night sweats, anorexia and cachexia. Clinical course is usually progressive. Prognosis is variable depending on the effective treatment of the underlying neoplasm.|NCI|N|
C0030477|A disorder characterized by an enduring pattern of behavior based on the pervasive belief that the motives of others are malevolent and that they should not be trusted.|NCI|N|
C0030481|A progressive chronic inflammatory disease of the central nervous system with the aetiologic agent Human T cell lymphotropic virus type I (HTLV-I), the disease is characterised by unremitting myelopathic symptoms such as spastic paraparesis, bowel and/or bladder dysfunction and sensory changes of the lower limbs.|SNOMEDCT_US|N|
C0030482|Disorders that include recurrent, intense sexually arousing fantasies, sexual urges, or behaviors generally involving nonhuman objects, suffering of oneself or partners, or children or other nonconsenting partners. (from DSM-V)|MONDO|N|
C0030483|The foreskin becomes trapped behind the glans penis, and cannot be pulled back to its normal flaccid position covering the glans penis.|HPO|N|
C0030484|A form of schizophrenia characterized by delusions (of persecution or grandeur or jealousy); symptoms may include anger and anxiety and aloofness and doubts about gender identity; unlike other types of schizophrenia the patients are usually presentable and (if delusions are not acted on) may function in an apparently normal manner.|NCI|N|
C0030486|Severe or complete weakness of both lower extremities with sparing of the upper extremities.|HPO|N|
C0030489|An abnormal immunoglobulin or part of an Ig (light chain) in the circulation. Paraproteins are typically produced by a clonal population of B-cell derived plasma cells.|HPO|N|
C0030491|An inflammatory skin disorder of unknown etiology characterized by papules and plaques or scaly patches resembling psoriasis.|NCI|N|
C0030499|Infections or infestations with PARASITES. They are often contracted through contact with an intermediate vector, but may occur as the result of direct exposure.|MSH|N|
C0030500|Animal diseases caused by PARASITES.|MSH|N|
C0030508|An undesirable physical event or experience that occurs during the process of falling asleep, while asleep, or when waking up from sleep.|HPO|N|
C0030517|A non-neoplastic or neoplastic disorder that affects the parathyroid glands. Representative examples include hyperparathyroidism, hypoparathyroidism, adenoma, and carcinoma.|NCI|N|
C0030521|A tumor (abnormal growth of tissue) of the parathyroid gland.|HPO|N|
C0030524|A chronic GASTROENTERITIS in RUMINANTS caused by MYCOBACTERIUM AVIUM SUBSPECIES PARATUBERCULOSIS.|MSH|N|
C0030528|A rare form of salmonellosis caused by Salmonella enterica serovar Paratyphi A, B and C, characterized by typical symptoms of enteric fever including high fever, headache, abdominal pain and intestinal symptoms, dry cough, chills, and rashes, followed by a long period of recovery. The infection can be complicated by intestinal hemorrhage and perforation, as well as cardiac involvement, and may even be fatal. Transmission of the pathogen is via the fecal-oral route, with humans as the sole reservoir of infection.|ORDO|N|
C0030552|A slight or incomplete paralysis.|NCI|N|
C0030554|Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause.|HPO|N|
C0030563|The number of pregnancies reaching 20 weeks and 0 days of gestation or beyond, regardless of the number of fetuses or outcomes.|NCI|N|
C0030567|Parkinson disease (PD) was first described by James Parkinson in 1817. It is the second most common neurodegenerative disorder after Alzheimer disease (AD; 104300), affecting approximately 1% of the population over age 50 (Polymeropoulos et al., 1996).
Reviews
Warner and Schapira (2003) reviewed the genetic and environmental causes of Parkinson disease. Feany (2004) reviewed the genetics of Parkinson disease and provided a speculative model of interactions among proteins implicated in PD. Lees et al. (2009) provided a review of Parkinson disease, with emphasis on diagnosis, neuropathology, and treatment.
Genetic Heterogeneity of Parkinson Disease
Several loci for autosomal dominant Parkinson disease have been identified, including PARK1 (168601) and PARK4, caused by mutation in or triplication of the alpha-synuclein gene (SNCA; 163890), respectively, on 4q22; PARK5 (191342), caused by mutation in the UCHL1 gene on 4p13; PARK8 (607060), caused by mutation in the LRRK2 gene (609007) on 12q12; PARK11 (607688), caused by mutation in the GIGYF2 gene (612003) on 2q37; PARK13 (610297), caused by mutation in the HTRA2 gene (606441) on 2p13; PARK17 (614203), caused by mutation in the VPS35 gene (601501) on 16q11; PARK18 (614251), caused by mutation in the EIF4G1 gene (600495) on 3q27; PARK22 (616710), caused by mutation in the CHCHD2 gene (616244) on 7p11; and PARK24 (619491), caused by mutation in the PSAP gene (176801) on 10q22.
Several loci for autosomal recessive early-onset Parkinson disease have been identified: PARK2 (600116), caused by mutation in the gene encoding parkin (PRKN, PARK2; 602544) on 6q26; PARK6 (605909), caused by mutation in the PINK1 gene (608309) on 1p36; PARK7 (606324), caused by mutation in the DJ1 gene (PARK7; 602533) on 1p36; PARK14 (612953), caused by mutation in the PLA2G6 gene (603604) on 22q13; PARK15 (260300), caused by mutation in the FBXO7 gene (605648) on 22q12-q13; PARK19A (615528) and PARK19B (see 615528), caused by mutation in the DNAJC6 gene (608375) on 1p32; PARK20 (615530), caused by mutation in the SYNJ1 gene (604297) on 21q22; and PARK23 (616840), caused by mutation in the VPS13C gene (608879) on 15q22; and PARK25 (620482), caused by mutation in the PTPA gene (600756) on 9q34.
PARK3 (602404) has been mapped to chromosome 2p13; PARK10 (606852) has been mapped to chromosome 1p34-p32; PARK16 (613164) has been mapped to chromosome 1q32. See also PARK21 (616361). A locus on the X chromosome has been identified (PARK12; 300557). There is also evidence that mitochondrial mutations may cause or contribute to Parkinson disease (see 556500).
Susceptibility to the development of the more common late-onset form of Parkinson disease has been associated with polymorphisms or mutations in several genes, including GBA (606463), MAPT (157140), MC1R (155555), ADH1C (103730), and genes at the HLA locus (see, e.g., HLA-DRA, 142860). Each of these risk factors independently may have a modest effect on disease development, but together may have a substantial cumulative effect (Hamza et al., 2010).
Susceptibility to PD may also be conferred by expanded trinucleotide repeats in several genes causing other neurologic disorders usually characterized by spinocerebellar ataxia (SCA), including the ATXN2 (601517), ATXN3 (607047), TBP (600075), and ATXN8OS (603680) genes.|OMIM|N|
C0030568|Parkinsonism resulting from encephalitis.|NCI|N|
C0030569|A condition with a clinical picture similar to that of Parkinson disease, but which is caused by external factors, including medication.|NCI|N|
C0030578|The nail disease paronychia is an often-tender bacterial or fungal hand infection or foot infection where the nail and skin meet at the side or the base of a finger or toenail. The infection can start suddenly (acute paronychia) or gradually (chronic paronychia).|HPO|N|
C0030579|A disease involving the parotid gland.|MONDO|N|
C0030581|A benign or malignant neoplasm that affects the parotid gland. Representative examples of benign neoplasms include Warthin tumor, monomorphic adenoma, and pleomorphic adenoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma.|NCI|N|
C0030583|Inflammation of the parotid gland.|HPO|N|
C0030584|A cyst (cysts) near the ovary, derived from anomalies of the fallopian tubes or the broad ligament. The paramesonephric type consists of ciliated cells similar to the oviduct epithelium. The mesonephric type consisted of an epithelium with minimally surface structures. They can be found on the thin oviduct (paratubal cysts) or near its fimbriated end (hydatid of Morgagni).|MONDO|N|
C0030587|A disorder characterized by an electrocardiographic finding of episodic atrial tachycardia with abrupt onset and termination.|NCI|N|
C0030590|An episodic form of supraventricular tachycardia with abrupt onset and termination.|HPO|N|
C0030591|Episodes of ventricular tachycardia that have a sudden onset and ending.|HPO|N|
C0030593|An inflammatory disorder of the cilliary body in the uvea that affects healthy, younger individuals who are often asymptomatic. It has a long clinical course with relapses and remissions. Symptoms include mildly decreased vision and floaters. It may be associated with autoimmune disorders.|NCI|N|
C0030612|A disease of pregnant and lactating cows and ewes leading to generalized paresis and death. The disease, which is characterized by hypocalcemia, occurs at or shortly after parturition in cows and within weeks before or after parturition in ewes.|MSH|N|
C0030631|A disorder characterized by a pattern of indirect expression of hostility, including negativistic attitudes and passive resistance to demands for adequate performance in social and occupational situations.|NCI|N|
C0030636|Infections with bacteria of the genus pasteurella.|MONDO|N|
C0030660|A biologic function or a process having an abnormal or deleterious effect at the subcellular, cellular, multicellular, or organismal level.|NCI|N|
C0030662|Pathologic gambling is defined as a chronic and progressive failure to resist impulses to gamble accompanied by gambling behavior that compromises or damages personal, family, or vocational pursuits. The prevalence of pathologic gambling in the adult American population is estimated to be between 1 and 3% (review by Eisen et al., 1998).
Comings et al. (2001) noted that some form of gambling is legal in all but 2 states in the U.S., and gambling on the Internet is available to anyone with a computer regardless of the local laws. They stated that as access to gambling has increased, there has been a corresponding increase in the frequency of addiction to gambling, known as pathologic gambling.|OMIM|N|
C0030756|A contagious infestation of parasitic insects found on the head (Pediculus humanus capitis), body (Pediculus humanus corporis), or pubic area (Pthirus pubis) that typically cause itching and rash.|NCI|N|
C0030757|A infectious disease involving Pediculus humanus capitis.|MONDO|N|
C0030758|A infectious disease involving the Pediculus humanus corporis.|MONDO|N|
C0030759|Infestation of the pubic hair by the pthirus pubis parasite which results in mild to intense itching and macular lesions. The parasite, also known as crab lice, is transmitted through skin to skin contact with an infected person or through direct contact with infested objects.|NCI|N|
C0030764|A disorder characterized by recurrent sexual urges, fantasies, or behaviors involving sexual activity with a prepubescent child or children.|NCI|N|
C0030779|An autosomal dominant inherited condition caused by mutations in the lamin B receptor gene. It is characterized by defects in the neutrophil lobulation, resulting in the presence of dumbbell-shaped neutrophils with bilobed nuclei in the peripheral blood smear.|NCI|N|
C0030781|A vascular disease of the liver characterized by the occurrence of multiple blood-filled cysts or cavities. The cysts are lined with endothelial cells; the cavities lined with hepatic parenchymal cells (hepatocytes). Peliosis hepatis has been associated with use of anabolic steroids (anabolic agents) and certain drugs.|MONDO|N|
C0030783|Pellagra is a nutritional disorder caused by a deficiency in niacin (vitamin B3) or its precursor (tryptophan) that is mainly observed in Asia and Africa where it is generally due to poor nutrition. It is characterized by dermatitis (symmetrical photodistributed erythema that may be accompanied by vesicles and bullae, and that develops into hyperkeratotic and hyperpigmented skin), gastrointestinal symptoms (diarrhea), and neuropsychiatric disorders (dementia). It can be life-threatening without a correct management.|ORDO|N|
C0030785|An abscess that is located in the pelvic cavity.|NCI|N|
C0030790|Infection involving the tissues or organs in the PELVIS.|MSH|N|
C0030793|Tumors or cancer of the pelvic region.|MSH|N|
C0030794|Pain perceived in the area of the pelvis, the lower part of the abdomen located between the hip bones.|HPO|N|
C0030804|A rare autoimmune bullous skin disease characterized clinically by blistering of the mucous membranes followed by scarring, and immunologically characterized by IgG, IgA and/or C3 deposits on the epidermal basement membrane. The disease principally involves the oral mucosa, but may also affect ocular, pharyngolaryngeal, genital, and esophageal mucous membranes.|ORDO|N|
C0030805|A rare autoimmune bullous skin disease characterized by acquired, subepidermal tense bullae occurring on normal of inflamed skin and that is typically widespread (occurring in the flexor regions of the proximal arms and legs, in the armpits, groin and the abdomen) and often associated with pruritus. The evolution is typically chronic with spontaneous exacerbations and remission.|ORDO|N|
C0030807|A blistering skin disorder. Morphologically it is characterized by acantholysis and intraepidermal blister formation.|NCI|N|
C0030809|A rare autoimmune bullous skin diseases characterized by painful, flaccid blisters and erosions of the oral mucosa, predominantly involving the buccal area, and with or without extension to the epidermis. Mucosa of the larynx, oesophagus, conjunctiva, nose, genitalia and anus, are less frequently affected.|ORDO|N|
C0030824|An allergy to Penicillin.|NCI|N|
C0030846|A non-neoplastic or neoplastic disorder that affects the penis. Representative examples of non-neoplastic disorders include phimosis, balanitis, and hypospadias. Representative examples of neoplastic disorders include hemangioma, penile intraepithelial neoplasia, and penile carcinoma.|NCI|N|
C0030848|Fibromatosis arising from the soft tissues of the penis. It is characterized by the presence of spindle-shaped fibroblasts, and an infiltrative growth pattern. It causes the penis to bend when it becomes erect.|NCI|N|
C0030849|A tumor (abnormal growth of tissue) of the penis.|HPO|N|
C0030892|An oxidative decarboxylation process that converts GLUCOSE-6-PHOSPHATE to D-ribose-5-phosphate via 6-phosphogluconate. The pentose product is used in the biosynthesis of NUCLEIC ACIDS. The generated energy is stored in the form of NADPH. This pathway is prominent in tissues which are active in the synthesis of FATTY ACIDS and STEROIDS.|MSH|N|
C0030896|A purine nucleotide analogue antibiotic isolated from the bacterium Streptomyces antibioticus. Also known as 2''-deoxycoformycin, pentostatin binds to and inhibits adenine deaminase (ADA), an enzyme essential to purine metabolism; ADA activity is greatest in cells of the lymphoid system with T-cells having higher activity than B-cells and T-cell malignancies higher ADA activity than B-cell malignancies. Pentostatin inhibition of ADA appears to result in elevated intracellular levels of dATP which may block DNA synthesis through the inhibition of ribonucleotide reductase. This agent may also inhibit RNA synthesis and may selectively deplete CD26+ lymphocytes. (NCI04)|NCI|N|
C0030920|The term peptic ulcer refers to acid peptic injury of the digestive tract, resulting in mucosal break reaching the submucosa. Peptic ulcers are usually located in the stomach or proximal duodenum, but they can also be found in the esophagus or Meckel's diverticulum. Infection with Helicobacter pylori and the use of non steroidal antiinflammatory drugs (NSAIDs) or aspirin are the main risk factors of both gastric and duodenal peptic ulcers.|HPO|N|
C0030922|Bleeding from a PEPTIC ULCER that can be located in any segment of the GASTROINTESTINAL TRACT.|MSH|N|
C0030925|Penetration of a peptic ulcer through the wall of duodenum or stomach allowing the leakage of luminal contents into the peritoneal cavity.|MONDO|N|
C0030975|Cognitive disorders characterized by an impaired ability to perceive the nature of objects or concepts through use of the sense organs. These include spatial neglect syndromes, where an individual does not attend to visual, auditory, or sensory stimuli presented from one side of the body.|MONDO|N|
C0031019|The presence of an abscess located around the anus.|HPO|N|
C0031024|Localized collection of pus in the tissues that enclose the root of a tooth.|NCI|N|
C0031028|Diseases of the PERIAPICAL TISSUE surrounding the root of the tooth, which is distinguished from DENTAL PULP DISEASES inside the TOOTH ROOT.|MSH|N|
C0031029|Chronic nonsuppurative inflammation of periapical tissue resulting from irritation following pulp disease or endodontic treatment.|MONDO|N|
C0031030|Inflammation of the periapical tissue. It includes general, unspecified, or acute nonsuppurative inflammation. Chronic nonsuppurative inflammation is periapical granuloma. Suppurative inflammation is periapical abscess.|MONDO|N|
C0031036|A rare, clinically heterogeneous, systemic disease characterized by necrotizing inflammatory lesions affecting medium-sized blood vessels. It most commonly affects skin, joints, peripheral nerves and the gastrointestinal tract.|ORDO|N|
C0031037|Inflammation of the tissues around a joint. (Dorland, 27th ed)|MONDO|N|
C0031039|Accumulation of fluid within the pericardium.|HPO|N|
C0031046|Inflammation of the sac-like covering around the heart (pericardium).|HPO|N|
C0031048|Presence of a thickened, fibrotic pericardium that forms a non-compliant shell around the heart, and resulting from chronic inflammation of the pericardium.|HPO|N|
C0031049|Inflammation of the sac surrounding the heart (pericardium) due to mycobacterium tuberculosis infection. Pericarditis can lead to swelling (pericardial effusion), compression of the heart (cardiac tamponade), and preventing normal beating of the heart.|MONDO|N|
C0031052|Inflammation of the tissue surrounding the biliary ducts.|NCI|N|
C0031055|Inflammation of the gingiva surrounding the crown of a tooth.|MONDO|N|
C0031065|Inflammation of the connective and adipose tissues surrounding the kidney.|HPO|N|
C0031069|Familial Mediterranean fever (FMF) is divided into two phenotypes: type 1 and type 2. FMF type 1 is characterized by recurrent short episodes of inflammation and serositis including fever, peritonitis, synovitis, pleuritis, and, rarely, pericarditis and meningitis. The symptoms and severity vary among affected individuals, sometimes even among members of the same family. Amyloidosis, which can lead to renal failure, is the most severe complication, if untreated. FMF type 2 is characterized by amyloidosis as the first clinical manifestation of FMF in an otherwise asymptomatic individual.|GeneReviews|N|
C0031085|An acute purulent bacterial infection that arises from the tissues that surround and support the teeth.|NCI|N|
C0031090|An inflammatory process of the gingival tissues and/or periodontal membrane of the teeth, resulting in an abnormally deep gingival sulcus, possibly producing periodontal pockets and loss of alveolar bone support.|NCI|N|
C0031094|An abnormal deepening of a gingival sulcus associated with destruction of the supporting periodontal tissue.|NCI|N|
C0031099|Inflammation of the periodontium.|HPO|N|
C0031106|Inflammation and loss of PERIODONTIUM that is characterized by rapid attachment loss and bone destruction in the presence of little local factors such as DENTAL PLAQUE and DENTAL CALCULUS. This highly destructive form of periodontitis often occurs in young people and was called early-onset periodontitis, but this disease also appears in old people.|MSH|N|
C0031111|Inflammation of the periosteum|HPO|N|
C0031117|Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course.|HPO|N|
C0031118|A benign or malignant neoplasm (tumor) of the peripheral nervous system.|HPO|N|
C0031129|Periphlebitis is inflammation of the outer coat of a vein or of tissues surrounding the vein.|MSH|N|
C0031142|A non-neoplastic or neoplastic disorder that affects the peritoneum. Representative examples of non-neoplastic disorders include peritonitis and panniculitis. Representative examples of neoplastic disorders include adenomatoid tumor, primary peritoneal carcinoma, metastatic carcinoma to the peritoneum, and malignant mesothelioma.|NCI|N|
C0031144|Persistent or recurring accumulation of fluid in the peritoneal cavity.|NCI|N|
C0031149|A benign or malignant neoplasm that affects the peritoneum. Representative examples of benign neoplasms include adenomatoid tumor and disseminated peritoneal leiomyomatosis. Representative examples of malignant neoplasms include primary peritoneal carcinoma, metastatic carcinoma to the peritoneum, and malignant mesothelioma.|NCI|N|
C0031154|Inflammation of the peritoneum.|HPO|N|
C0031157|An abscess that develops in the space surrounding one or both palatine tonsils.|NCI|N|
C0031190|Alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) is a disorder affecting the development of the lungs and their blood vessels. The disorder affects the millions of small air sacs (alveoli) in the lungs and the tiny blood vessels (capillaries) in the alveoli. It is through these alveolar capillaries that inhaled oxygen enters the bloodstream for distribution throughout the body and carbon dioxide leaves the bloodstream to be exhaled.\n\nIn ACD/MPV, the alveolar capillaries fail to develop normally. The number of capillaries is drastically reduced, and existing capillaries are improperly positioned within the walls of the alveoli. These abnormalities in capillary number and location impede the exchange of oxygen and carbon dioxide.\n\nOther abnormalities of the blood vessels in the lungs also occur in ACD/MPV.  The veins that carry blood from the lungs into the heart (pulmonary veins) are improperly positioned and may be abnormally bundled together with arteries that carry blood from the heart to the lungs (pulmonary arteries). The muscle tissue in the walls of the pulmonary arteries may be overgrown, resulting in thicker artery walls and a narrower channel. These changes restrict normal blood flow, which causes high blood pressure in the pulmonary arteries (pulmonary hypertension) and requires the heart to pump harder.\n\nMost infants with ACD/MPV are born with additional abnormalities. These may include abnormal twisting (malrotation) of the large intestine or other malformations of the gastrointestinal tract. Cardiovascular and genitourinary abnormalities are also common in affected individuals.\n\nInfants with ACD/MPV typically develop respiratory distress within a few minutes to a few hours after birth. They experience shortness of breath and cyanosis, which is a bluish appearance of the skin, mucous membranes, or the area underneath the fingernails caused by a lack of oxygen in the blood. Without lung transplantation, infants with ACD/MPV have not been known to survive past one year of age, and most affected infants live only a few weeks.|MedlinePlus Genetics|N|
C0031192|A congenital defect in the atrial septum at the level of the atrioventricular valves, resulting in abnormalities in the mitral and/or tricuspid valve; this defect is most commonly seen in those with Trisomy 21.|NCI|N|
C0031212|A personality disorder is a deeply ingrained pattern of behavior of a specified kind that deviates markedly from the norms of generally accepted behavior. It is typically apparent by the time of adolescence and causes long-term difficulties in personal relationships or functioning in society.|HPO|N|
C0031256|Petechiae are pinpoint-sized reddish/purple spots, resembling a rash, that appear just under the skin or a mucous membrane when capillaries have ruptured and some superficial bleeding into the skin has happened. This term refers to an abnormally increased susceptibility to developing petechiae.|HPO|N|
C0031269|Peutz-Jeghers syndrome (PJS) is characterized by the association of gastrointestinal (GI) polyposis, mucocutaneous pigmentation, and cancer predisposition. PJS-type hamartomatous polyps are most common in the small intestine (in order of prevalence: jejunum, ileum, and duodenum) but can also occur in the stomach, large bowel, and extraintestinal sites including the renal pelvis, bronchus, gall bladder, nasal passages, urinary bladder, and ureters. GI polyps can result in chronic bleeding, anemia, and recurrent obstruction and intussusception requiring repeated laparotomy and bowel resection. Mucocutaneous hyperpigmentation presents in childhood as dark blue to dark brown macules around the mouth, eyes, and nostrils, in the perianal area, and on the buccal mucosa. Hyperpigmented macules on the fingers are common. The macules may fade in puberty and adulthood. Recognition of the distinctive skin manifestations is important especially in individuals who have PJS as the result of a de novo pathogenic variant as these skin findings often predate GI signs and symptoms. Individuals with PJS are at increased risk for a wide variety of epithelial malignancies (colorectal, gastric, pancreatic, breast, and ovarian cancers). Females are at risk for sex cord tumors with annular tubules (SCTAT), a benign neoplasm of the ovaries, and adenoma malignum of the cervix, a rare aggressive cancer. Males occasionally develop large calcifying Sertoli cell tumors of the testes, which secrete estrogen and can lead to gynecomastia, advanced skeletal age, and ultimately short stature, if untreated.|GeneReviews|N|
C0031306|Disorders in which phagocytic cells cannot kill ingested bacteria; characterized by frequent recurring infection with formulation of granulomas.|MONDO|N|
C0031315|Persistent postural and motor experiences of the limb after physical loss.|SNOMEDCT_US|N|
C0031345|A non-neoplastic or neoplastic disorder that affects the pharynx. Representative examples include pharyngitis and carcinoma.|NCI|N|
C0031347|A neoplasm originating in the pharynx.|HPO|N|
C0031350|Inflammation (due to infection or irritation) of the pharynx.|HPO|N|
C0031351|A condition characterized by fever, conjunctivitis, and pharyngitis resulting from infection by adenovirus.|NCI|N|
C0031391|The misuse of phencyclidine with associated psychological symptoms and impairment in social or occupational functioning.|MONDO|N|
C0031485|Phenylalanine hydroxylase (PAH) deficiency results in intolerance to the dietary intake of the essential amino acid phenylalanine and produces a spectrum of disorders. The risk of adverse outcome varies based on the degree of PAH deficiency. Without effective therapy, most individuals with severe PAH deficiency, known as classic PKU, develop profound and irreversible intellectual disability. Affected individuals on an unrestricted diet who have phenylalanine levels above normal but below 1,200 µmol/L (20 mg/dL) are at much lower risk for impaired cognitive development in the absence of treatment.|GeneReviews|N|
C0031511|Hereditary paraganglioma-pheochromocytoma (PGL/PCC) syndromes are characterized by paragangliomas (tumors that arise from neuroendocrine tissues distributed along the paravertebral axis from the base of the skull to the pelvis) and pheochromocytomas (paragangliomas that are confined to the adrenal medulla). Sympathetic paragangliomas cause catecholamine excess; parasympathetic paragangliomas are most often nonsecretory. Extra-adrenal parasympathetic paragangliomas are located predominantly in the skull base and neck (referred to as head and neck PGL [HNPGL]) and sometimes in the upper mediastinum; approximately 95% of such tumors are nonsecretory. In contrast, sympathetic extra-adrenal paragangliomas are generally confined to the lower mediastinum, abdomen, and pelvis, and are typically secretory. Pheochromocytomas, which arise from the adrenal medulla, typically lead to catecholamine excess. Symptoms of PGL/PCC result from either mass effects or catecholamine hypersecretion (e.g., sustained or paroxysmal elevations in blood pressure, headache, episodic profuse sweating, forceful palpitations, pallor, and apprehension or anxiety). The risk for developing metastatic disease is greater for extra-adrenal sympathetic paragangliomas than for pheochromocytomas.|GeneReviews|N|
C0031526|A translocation between chromosomes 9 and 22. It is the hallmark for chronic myelogenous leukemia (CML).|NCI|N|
C0031538|A condition in which there is constriction in the tip of the foreskin resulting in inability to fully retract the foreskin over the glans penis. Causes include balanoposthitis, balanitis xerotica obliterans, and untreated diabetes.|NCI|N|
C0031542|Inflammation of a vein.|NCI|N|
C0031556|Inflammation that is characterized by swollen, pale, and painful limb. It is usually caused by DEEP VEIN THROMBOSIS in a FEMORAL VEIN, following PARTURITION or an illness. This condition is also called milk leg or white leg.|MSH|N|
C0031557|Purulent inflammation of the cellular or areolar tissue.|NCI|N|
C0031570|An overwhelming, irrational, and persistent fear of attending school.|NCI|N|
C0031572|An anxiety disorder characterized by an intense, irrational fear of one or more social or performance situations in which the individual believes that he or she will be scrutinized by others. Exposure to social situations immediately provokes an anxiety response. In adults, the social phobia is recognized as excessive or unreasonable.|NCI|N|
C0031575|Missing or malformed long bones of the extremities with the distal parts (such as hands and/or feet) connected to the variably shortened or even absent extremity, leading to a flipper-like appearance, as opposed to other forms of limb malformations were either the hole limb is missing (such as amelia), or the distal part of a limb is absent (peromelia).|HPO|N|
C0031707|A metabolic disorder that affects the phosphate homeostasis.|NCI|N|
C0031715|The creation of a phosphate derivative of an organic molecule. This is usually achieved by transferring a phosphate group from ATP via the action of a kinase.|NCI|N|
C0031736|The cardinal symptom is severely pruritic skin lesions. Macular, papular, papulovesicular, urticarial, multiforme- and plaque-like variants are differentiated morphologically, hence the name polymorphous. Usually one morphology dominates in a single individual (monomorphous). The skin lesions develop a few hours to several days after sun exposure. Initially, patchy erythema develops, accompanied by pruritus. Distinct lesions then develop. The upper chest, upper arms, backs of the hands, thighs, and the sides of the face are the primary localizations. The skin lesions resolve spontaneously within several days of ceasing sun exposure and do not leave behind any traces.|HPO|N|
C0031751|Chemical bond cleavage reactions resulting from absorption of radiant energy.|MSH|N|
C0031755|The use of light to convert ADP to ATP without the concomitant reduction of dioxygen to water as occurs during OXIDATIVE PHOSPHORYLATION in MITOCHONDRIA.|MSH|N|
C0031762|An abnormal inflammatory skin condition resulting from exposure to ultraviolet light, most commonly sunlight. May result from phototoxic or photoallergic reactions or both.|SNOMEDCT_US|N|
C0031873|An appetite for and the persistent ingestion of non-food substances such as clay. In order to diagnose pica, this behavior must have persisted over a period of at least one month.|HPO|N|
C0031880|Hypoventilation syndrome in very obese persons with excessive adipose tissue around the abdomen and diaphragm is characterized by diminished to absent ventilatory chemoresponsiveness; chronic hypoxia; hypercapnia; polycythemia; and long periods of sleep during day and night (hypersomnolence). It is a condition often related to obstructive sleep apnea but can occur separately.|MONDO|N|
C0031887|Virus diseases caused by the picornaviridae.|MONDO|N|
C0031898|Either of two diseases resulting from fungal infection of the hair shafts. Black piedra occurs mainly in and on the hairs of the scalp and is caused by Piedraia hortae; white piedra occurs in and on the hairs of the scalp, beard, mustache and genital areas and is caused by Trichosporon species.|MONDO|N|
C0031900|Pierre Robin sequence is a craniofacial anomaly comprising mandibular hypoplasia, cleft secondary palate, and glossoptosis leading to life-threatening obstructive apnea and feeding difficulaties during the neonatal period (summary by Tan et al., 2013).|OMIM|N|
C0031925|A sinus in the coccygeal region (the region of the intergluteal cleft). A pilonidal sinus often contains hair and skin debris.|HPO|N|
C0031941|A neoplasm of the pineal gland.|HPO|N|
C0031946|An endemic bacterial infection caused by Treponema carateum. It is manifested with chronic cutaneous lesions. The early lesions consist of papules and erythematous plaques. The late lesions consist of hypochromic, achromic, hyperpigmented and atrophic lesions. The late skin lesions may cause destruction of bones and cartilage and produce disfiguring changes.|NCI|N|
C0032000|A benign epithelial tumor derived from intrinsic cells of the adenohypophysis (anterior pituitary).|HPO|N|
C0032001|A rare pituitary disease characterized by hemorrhagic or non-hemorrhagic necrosis of the pituitary gland. Clinical manifestations typically comprise sudden and severe headache (often with nausea and vomiting), visual disturbances (visual-field defects, loss of visual acuity), oculomotor palsies, and variable degrees of altered consciousness, ranging from lethargy to coma. Acute endocrine dysfunction may also be present, most commonly corticotropic deficiency with severe hypotension and hyponatremia as well as secondary adrenal failure, but also thyrotropic and gonadotropic deficiency.|ORDO|N|
C0032002|A non-neoplastic or neoplastic disorder that affects the pituitary gland.|NCI|N|
C0032019|A benign or malignant neoplasm affecting the pituitary gland. The vast majority are pituitary neuroendocrine tumors (formerly pituitary adenomas).|NCI|N|
C0032024|A name originally applied to a group of skin diseases characterized by the formation of fine, branny scales, but now used only with a modifier. (Dorland, 27th ed)|MSH|N|
C0032026|A mild, self-limited skin disorder that is most commonly seen in children and young adults. It is characterized by an initial large round spot on the chest, abdomen, or back, often referred to as a herald patch, that is usually followed within a week by a distinctive pattern of similar but smaller papules on the torso, arms, and legs. There may also be itching, especially when overheated.|NCI|N|
C0032027|Pityriasis rubra pilaris is an uncommon skin disorder characterized by the appearance of keratotic follicular papules, well-demarcated salmon-colored erythematous plaques covered with fine powdery scales interspersed with distinct islands of uninvolved skin, and palmoplantar keratoderma. Most cases are sporadic, although up to 6.5% of PRP-affected individuals report a positive family history. The rare familial cases show autosomal dominant inheritance with incomplete penetrance and variable expression: the disorder is usually present at birth or appears during the first years of life and is characterized by prominent follicular hyperkeratosis, diffuse palmoplantar keratoderma, and erythema, with only a modest response to treatment (summary by Fuchs-Telem et al., 2012).|OMIM|N|
C0032040|The location where someone was born, usually referring to a town, city, or country.|NCI|N|
C0032044|Abnormally firm adherence of the placenta to the uterine wall.|HPO|N|
C0032045|A non-neoplastic or neoplastic disorder that affects the placenta. Representative examples include chorioamnionitis, hemangioma, and choriocarcinoma.|NCI|N|
C0032046|A condition in which the placenta is located over or near the internal os of the cervix, increasing the risk of haemorrhage.|SNOMEDCT_US|N|
C0032051|A rare obstetric disease characterized by inadequate blood flow to the placenta during pregnancy, resulting in a decrease in trans-placental transfer of oxygen and nutrients to the fetus, potentially leading to fetal growth retardation, distress, or death. Maternal risk factors include preeclampsia, gestational diabetes, and smoking, among others.|ORDO|N|
C0032064|Plague is a severe bacterial infection caused by the Gram-negative bacterium <i>Yersinia pestis</i>.|ORDO|N|
C0032080|Diseases of plants.|MSH|N|
C0032091|A localized proliferation of plant tissue forming a swelling or outgrowth, commonly with a characteristic shape and unlike any organ of the normal plant. Plant tumors or galls usually form in response to the action of a pathogen or a pest. (Holliday, P., A Dictionary of Plant Pathology, 1989, p330)|MSH|N|
C0032131|A discrete mass of neoplastic monoclonal plasma cells either in the bone marrow or in an extramedullary location.|HPO|N|
C0032197|A rare hemorrhagic disorder due to a constitutional platelet anomaly characterized by moderate to severe deficiency in both platelet alpha-granules and dense bodies, resulting in impaired platelet function and decreased aggregation responses. Patients present increased bleeding tendency with symptoms like easy bruising, or menorrhagia.|ORDO|N|
C0032209|A developmental malformation of the occipital bone and upper end of the cervical spine, in which the latter appears to have pushed the floor of the occipital bone upward such that there is an abnormal flattening of the skull base.|HPO|N|
C0032226|A non-neoplastic or neoplastic disorder that affects the pleura. Representative examples include pleural infection, pleural mesothelioma, and pleural solitary fibrous tumor.|NCI|N|
C0032227|The presence of an excessive amount of fluid in the pleural cavity.|HPO|N|
C0032229|A benign or malignant neoplasm that involves the serous membrane that lines the lungs and thoracic cavity. Most pleural neoplasms are metastatic. Diffuse malignant mesothelioma is the most common primary malignant neoplasm of the pleura.|NCI|N|
C0032230|An abnormal breath sound that is nonmusical, short and explosive. It is grating, rubbing, creaky, or leathery in character and present in both phases of respiration. Typically the expiratory component mirrors the inspiratory component. It occurs due to inflamed pleural surface rubbing each other during breathing. Clinically, it is important to differentiate it from crackles|HPO|N|
C0032231|Inflammation of the pleura.|HPO|N|
C0032238|An acute, febrile, infectious disease generally occurring in epidemics. It is usually caused by coxsackieviruses B and sometimes by coxsackieviruses A; echoviruses; or other enteroviruses.|MONDO|N|
C0032241|Inflammation of the lung parenchyma that is associated with pleurisy, inflammation of the pleura.|MONDO|N|
C0032243|A pleuropneumonia of cattle and goats caused by species of mycoplasma.|MONDO|N|
C0032249|Plummer-Vinson or Paterson-Kelly syndrome presents as a classical triad of dysphagia, iron-deficiency anemia and esophageal webs.|ORDO|N|
C0032266|The presence of gas within the wall of the large or small intestine.|MONDO|N|
C0032268|The presence of air or gas within the cranial cavity.|NCI|N|
C0032269|Infections with bacteria of the species streptococcus pneumoniae.|MONDO|N|
C0032273|An occupational lung disorder caused by inhalation of dust particles. It is characterized by bilateral interstitial lung infiltrates. Representative examples include asbestosis, silicosis, anthracosis, and talc pneumoconiosis.|NCI|N|
C0032285|Inflammation of any part of the lung parenchyma.|HPO|N|
C0032290|Pneumonia due to the aspiration (breathing in) of food, liquid, or gastric contents into the upper respiratory tract.|HPO|N|
C0032291|A cattle disease of uncertain cause, probably an allergic reaction.|MSH|N|
C0032298|A specific form of lung inflammation that results from accumulation of lipids in the alveoli. Lipoid pneumonia can be either exogenous or endogenous in cause based on the source of the lipid.|HPO|N|
C0032302|Pneumonia caused by Mycoplasma pneumoniae. Signs and symptoms include productive cough, fever, chills, shortness of breath, and chest pain.|NCI|N|
C0032306|Chronic respiratory disease caused by the VISNA-MAEDI VIRUS. It was formerly believed to be identical with jaagsiekte (PULMONARY ADENOMATOSIS, OVINE) but is now recognized as a separate entity.|MSH|N|
C0032307|Pneumonia caused by infection with bacteria of the family rickettsiaceae.|MONDO|N|
C0032308|Pneumonia caused by infections with bacteria of the genus staphylococcus, usually with staphylococcus aureus.|MONDO|N|
C0032310|Inflammation of the lung parenchyma that is caused by a viral infection.|MONDO|N|
C0032319|The presence of air in the pericardial cavity. Causes include chest injury in adults, and respiratory distress syndrome in infants.|NCI|N|
C0032320|Free air within the peritoneal cavity.|NCI|N|
C0032326|Accumulation of air in the pleural cavity leading to a partially or completely collapsed lung.|HPO|N|
C0032339|Rothmund-Thomson syndrome (RTS) is characterized by a rash that progresses to poikiloderma; sparse hair, eyelashes, and/or eyebrows; small size; skeletal and dental abnormalities; juvenile cataracts; and an increased risk for cancer, especially osteosarcoma. A variety of benign and malignant hematologic abnormalities have been reported in affected individuals. The rash of RTS typically develops between ages three and six months (occasionally as late as age two years) as erythema, swelling, and blistering on the face, subsequently spreading to the buttocks and extremities. The rash evolves over months to years into the chronic pattern of reticulated hypo- and hyperpigmentation, telangiectasias, and punctate atrophy (collectively known as poikiloderma) that persist throughout life. Hyperkeratotic lesions occur in approximately one third of individuals. Skeletal abnormalities can include radial ray defects, ulnar defects, absent or hypoplastic patella, and osteopenia.|GeneReviews|N|
C0032342|An allergic contact dermatitis caused by exposure to plants of the genus Toxicodendron (formerly Rhus). These include poison ivy, poison oak, and poison sumac, all plants that contain the substance urushiol, a potent skin sensitizing agent. (From Dorland, 27th ed)|MONDO|N|
C0032357|Poland syndrome consists of unilateral absence or hypoplasia of the pectoralis muscle, most frequently involving the sternocostal portion of the pectoralis major muscle, and a variable degree of ipsilateral hand and digit anomalies, including symbrachydactyly. Sometimes called Poland sequence, it was first described by Poland (1841).
Poland syndrome is most commonly a sporadic condition (David, 1982; Opitz, 1982), but familial cases have been reported.|OMIM|N|
C0032371|Poliomyelitis is a viral infection caused by any of three serotypes of human poliovirus, which is part of the family of enteroviruses.|ORDO|N|
C0032372|A form of paralytic poliomyelitis affecting neurons of the medulla oblongata of the brain stem. Clinical features include impaired respiration, hypertension, alterations of vasomotor control, and dysphagia. Weakness and atrophy of the limbs and trunk due to spinal cord involvement is usually associated. (From Adams et al., Principles of Neurology, 6th ed, p765)|MONDO|N|
C0032453|A rare, clinically heterogeneous, multisystemic inflammatory disease characterized by inflammation of the cartilage and proteoglycan rich structures leading to cartilage damage along with joint, ocular and cardiovascular involvement.|ORDO|N|
C0032460|Polycystic ovary syndrome is a condition that affects women in their child-bearing years and alters the levels of multiple hormones, resulting in problems affecting many body systems.\n\nMost women with polycystic ovary syndrome produce excess male sex hormones (androgens), a condition called hyperandrogenism. Having too much of these hormones typically leads to excessive body hair growth (hirsutism), acne, and male pattern baldness.\n\nHyperandrogenism and abnormal levels of other sex hormones prevent normal release of egg cells from the ovaries (ovulation) and regular menstrual periods, leading to difficulty conceiving a child (subfertility) or a complete inability to conceive (infertility). For those who achieve pregnancy, there is an increased risk of complications and pregnancy loss. Due to irregular and infrequent menstruation and hormone abnormalities, affected women have an increased risk of cancer of the uterine lining (endometrial cancer).\n\nIn polycystic ovary syndrome, one or both ovaries can contain multiple small, immature ovarian follicles that can appear as cysts on medical imaging. Normally, ovarian follicles contain egg cells, which are released during ovulation. In polycystic ovary syndrome, abnormal hormone levels prevent follicles from growing and maturing to release egg cells. Instead, these immature follicles accumulate in the ovaries. Affected women can have 12 or more of these follicles. The number of these follicles usually decreases with age.\n\nAbout half of all women with polycystic ovary syndrome are overweight or have obesity and are at increased risk of a fatty liver. Additionally, many women with polycystic ovary syndrome have elevated levels of insulin, which is a hormone that helps control levels of blood glucose, also called blood sugar. By age 40, about 10 percent of overweight women with polycystic ovary syndrome develop abnormally high blood glucose levels (type 2 diabetes), and up to 35 percent develop prediabetes (higher-than-normal blood glucose levels that do not reach the cutoff for diabetes). Obesity and increased insulin levels (hyperinsulinemia) further increase the production of androgens in polycystic ovary syndrome.\n\nWomen with polycystic ovary syndrome are also at increased risk for developing metabolic syndrome, which is a group of conditions that include high blood pressure (hypertension), increased belly fat, high levels of unhealthy fats and low levels of healthy fats in the blood, and high blood glucose levels. About 20 percent of affected adults experience pauses in breathing during sleep (sleep apnea). Women with polycystic ovary syndrome are more likely than women in the general popluation to have mood disorders such as depression.|MedlinePlus Genetics|N|
C0032461|Polycythemia is diagnosed if the red blood cell count, the hemoglobin level, and the red blood cell volume all exceed the upper limits of normal.|HPO|N|
C0032463|Polycythemia vera (PV), the most common form of primary polycythemia, is caused by somatic mutation in a single hematopoietic stem cell leading to clonal hematopoiesis. PV is a myeloproliferative disorder characterized predominantly by erythroid hyperplasia, but also by myeloid leukocytosis, thrombocytosis, and splenomegaly. Familial cases of PV are very rare and usually manifest in elderly patients (Cario, 2005). PV is distinct from the familial erythrocytoses (see, e.g., ECYT1, 133100), which are caused by inherited mutations resulting in hypersensitivity of erythroid progenitors to hormonal influences or increased levels of circulating hormones, namely erythropoietin (EPO; 133170) (Prchal, 2005).|OMIM|N|
C0032519|Frequent menses; menstrual cycles lasting less than 21 days.|HPO|N|
C0032533|A rare rheumatologic disease characterized by bilateral morning stiffness which lasts > 45-60 min of duration associated with a subacute-onset of severe pain with active movements, typically affecting the shoulders, proximal upper limbs, neck and/or, less commonly, the pelvic girdle and proximal aspects of thighs, which are exacerbated with inactivity and improve progressively over the day. Muscle tenderness, peripheral synovitis, arthritis, carpal tunnel syndrome or distal tenosynovitis, as well as non-specific symptoms, such as fatigue, asthenia, malaise, low-grade fever, anorexia and weight loss, may be associated. Acute phase reactants (erythrocyte sedimentation rate, C-reactive protein) are increased.|ORDO|N|
C0032541|Simulataneous inflammation of multiple nerves.|HPO|N|
C0032578|A numerical chromosomal abnormality characterized by the presence of more than two sets of chromosomes.|NCI|N|
C0032580|Familial adenomatous polyposis (FAP) is an inherited disorder characterized by cancer of the large intestine (colon) and rectum. People with the classic type of familial adenomatous polyposis may begin to develop multiple noncancerous (benign) growths (polyps) in the colon as early as their teenage years. Unless the colon is removed, these polyps will become malignant (cancerous). The average age at which an individual develops colon cancer in classic familial adenomatous polyposis is 39 years. Some people have a variant of the disorder, called attenuated familial adenomatous polyposis, in which polyp growth is delayed. The average age of colorectal cancer onset for attenuated familial adenomatous polyposis is 55 years.\n\nA milder type of familial adenomatous polyposis, called autosomal recessive familial adenomatous polyposis, has also been identified. People with the autosomal recessive type of this disorder have fewer polyps than those with the classic type. Fewer than 100 polyps typically develop, rather than hundreds or thousands. The autosomal recessive type of this disorder is caused by mutations in a different gene than the classic and attenuated types of familial adenomatous polyposis.\n\nIn people with classic familial adenomatous polyposis, the number of polyps increases with age, and hundreds to thousands of polyps can develop in the colon. Also of particular significance are noncancerous growths called desmoid tumors. These fibrous tumors usually occur in the tissue covering the intestines and may be provoked by surgery to remove the colon. Desmoid tumors tend to recur after they are surgically removed. In both classic familial adenomatous polyposis and its attenuated variant, benign and malignant tumors are sometimes found in other places in the body, including the duodenum (a section of the small intestine), stomach, bones, skin, and other tissues. People who have colon polyps as well as growths outside the colon are sometimes described as having Gardner syndrome.|MedlinePlus Genetics|N|
C0032584|A usually exophytic mass attached to the underlying tissue by a broad base or a thin stalk. Polyps can be neoplastic or non-neoplastic. Neoplastic polyps usually represent proliferations of the epithelium, and are commonly seen in the gastrointestinal tract. Polyps of the gastrointestinal tract are often called adenomas, are associated with dysplasia, and may eventually transform into carcinomas. Non-neoplastic polyps may be inflammatory, degenerative, or the result of malformations.|NCI|N|
C0032586|A radiculopathy that is present in more than one nerve.|NCI|N|
C0032587|Diseases characterized by injury or dysfunction involving multiple peripheral nerves and nerve roots. The process may primarily affect myelin or nerve axons. Two of the more common demyelinating forms are acute inflammatory polyradiculopathy (guillain-barre syndrome) and polyradiculoneuropathy, chronic inflammatory demyelinating. Polyradiculoneuritis refers to inflammation of multiple peripheral nerves and spinal nerve roots.|MONDO|N|
C0032617|An increased rate of urine production.|HPO|N|
C0032633|A recurrent eczematous reaction characterized by the development of vesicular eruptions on the palms and soles, particularly along the sides and between the digits. It is accompanied by pruritus, a burning sensation, and hyperhidrosis. The disease is self-limiting, lasting only a few weeks. (Dorland, 27th ed)|MONDO|N|
C0032650|A fluid-filled mass that is a distention of a preexisting bursa in the popliteal fossa, most commonly the gastrocnemio-semimembranosus bursa. This bursa is unique in that it communicates with the knee joint, unlike other periarticular bursae, via an opening in the joint capsule posterior to the medial femoral condyle.|HPO|N|
C0032708|Porphyria is a group of disorders caused by abnormalities in the chemical steps that lead to heme production. Heme is a vital molecule for all of the body's organs, although it is most abundant in the blood, bone marrow, and liver. Heme is a component of several iron-containing proteins called hemoproteins, including hemoglobin (the protein that carries oxygen in the blood).\n\nResearchers have identified several types of porphyria, which are distinguished by their genetic cause and their signs and symptoms. Some types of porphyria, called cutaneous porphyrias, primarily affect the skin. Areas of skin exposed to the sun become fragile and blistered, which can lead to infection, scarring, changes in skin coloring (pigmentation), and increased hair growth. Cutaneous porphyrias include congenital erythropoietic porphyria, erythropoietic protoporphyria, hepatoerythropoietic porphyria, and porphyria cutanea tarda.\n\nOther types of porphyria, called acute porphyrias, primarily affect the nervous system. These disorders are described as "acute" because their signs and symptoms appear quickly and usually last a short time.  Episodes of acute porphyria can cause abdominal pain, vomiting, constipation, and diarrhea.  During an episode, a person may also experience muscle weakness, seizures, fever, and mental changes such as anxiety and hallucinations. These signs and symptoms can be life-threatening, especially if the muscles that control breathing become paralyzed. Acute porphyrias include acute intermittent porphyria and ALAD deficiency porphyria. Two other forms of porphyria, hereditary coproporphyria and variegate porphyria, can have both acute and cutaneous symptoms.\n\nEnvironmental factors can strongly influence the occurrence and severity of signs and symptoms of porphyria. Alcohol, smoking, certain drugs, hormones, other illnesses, stress, and dieting or periods without food (fasting) can all trigger the signs and symptoms of some forms of the disorder. Additionally, exposure to sunlight worsens the skin damage in people with cutaneous porphyrias.\n\nThe porphyrias can also be split into erythropoietic and hepatic types, depending on where damaging compounds called porphyrins and porphyrin precursors first build up in the body. In erythropoietic porphyrias, these compounds originate in the bone marrow. Erythropoietic porphyrias include erythropoietic protoporphyria and congenital erythropoietic porphyria. Health problems associated with erythropoietic porphyrias include a low number of red blood cells (anemia) and enlargement of the spleen (splenomegaly). The other types of porphyrias are considered hepatic porphyrias. In these disorders, porphyrins and porphyrin precursors originate primarily in the liver, leading to abnormal liver function and an increased risk of developing liver cancer.|MedlinePlus Genetics|N|
C0032749|A cutaneous form of leishmaniasis which sometimes occurs after visceral leishmaniasis treatment. It is characterized by hypo-pigmented macules, papules, plaques, nodules, or facial erythema; and is considered to be a durable infection reservoir for visceral leishmaniasis.|NCI|N|
C0032763|Sequelae of gastrectomy from the second week after operation on. Include recurrent or anastomotic ulcer, postprandial syndromes (dumping syndrome and late postprandial hypoglycemia), disordered bowel action, and nutritional deficiencies.|MONDO|N|
C0032768|Pain that occurs after the disappearance of herpes zoster infection lesions.|NCI|N|
C0032776|Uterine bleeding that occurs after at least one year of amenorrhea in a woman who is not receiving hormone therapy.|HPO|N|
C0032780|Physiological changes that occur in bodies after death.|MSH|N|
C0032781|Excessive mucous secretion in the back of the nasal cavity or throat, causing sore throat and/or coughing. It is usually due to allergic rhinitis or a cold.|NCI|N|
C0032787|Pathologic processes that affect patients after a surgical procedure. They may or may not be related to the disease for which the surgery was done, and they may or may not be direct results of the surgery.|MSH|N|
C0032788|Bleeding occurring after completion of a surgical procedure, which may occur immediately or may be delayed, and which may or may not be wound related.|NCI|N|
C0032792|A state of shock following a surgical operation.|NCI|N|
C0032797|Significant maternal hemorrhage/blood loss following deilvery of a child.|HPO|N|
C0032805|An inflammatory disorder of the pericardium and pleura seen as a post-operative complication of cardiovascular surgery.|NCI|N|
C0032807|A condition characterized by a chronically swollen limb, often a leg with stasis dermatitis and ulcerations. This syndrome can appear soon after phlebitis or years later. Postphlebitic syndrome is the result of damaged or incompetent venous valves in the limbs. Distended, tortuous varicose veins are usually present. Leg pain may occur after long period of standing.|MONDO|N|
C0032816|Secondary headache attributed to TRAUMA of the HEAD and/or the NECK.|MSH|N|
C0032827|A condition due to decreased dietary intake of potassium, as in starvation or failure to administer in intravenous solutions, or to gastrointestinal loss in diarrhea, chronic laxative abuse, vomiting, gastric suction, or bowel diversion. Severe potassium deficiency may produce muscular weakness and lead to paralysis and respiratory failure. Muscular malfunction may result in hypoventilation, paralytic ileus, hypotension, muscle twitches, tetany, and rhabomyolysis. Nephropathy from potassium deficit impairs the concentrating mechanism, producing polyuria and decreased maximal urinary concentrating ability with secondary polydipsia. (Merck Manual, 16th ed)|MONDO|N|
C0032851|Diseases of birds which are raised as a source of meat or eggs for human consumption and are usually found in barnyards, hatcheries, etc. The concept is differentiated from BIRD DISEASES which is for diseases of birds not considered poultry and usually found in zoos, parks, and the wild.|MSH|N|
C0032858|A disease caused by infection with Powassan virus.|MONDO|N|
C0032870|Virus diseases caused by the POXVIRIDAE.|MSH|N|
C0032897|Prader-Willi syndrome (PWS) is characterized by severe hypotonia and feeding difficulties in early infancy, followed in later infancy or early childhood by excessive eating and gradual development of morbid obesity (unless eating is externally controlled). Motor milestones and language development are delayed. All individuals have some degree of cognitive impairment. A distinctive behavioral phenotype (with temper tantrums, stubbornness, manipulative behavior, and obsessive-compulsive characteristics) is common. Hypogonadism is present in both males and females and manifests as genital hypoplasia, incomplete pubertal development, and, in most, infertility. Short stature is common (if not treated with growth hormone); characteristic facial features, strabismus, and scoliosis are often present.|GeneReviews|N|
C0032914|Preeclampsia is a complication of pregnancy in which affected women develop high blood pressure (hypertension); they can also have abnormally high levels of protein in their urine (proteinuria). This condition usually occurs in the last few months of pregnancy and often requires early delivery of the infant. However, this condition can also appear shortly after giving birth (postpartum preeclampsia).\n\nMany women with mild preeclampsia do not feel ill, and the condition is often first detected through blood pressure and urine testing in their doctor's office. In addition to hypertension and proteinuria, signs and symptoms of preeclampsia can include excessive swelling (edema) of the face or hands and a weight gain of more than 3 to 5 pounds in a week due to fluid retention. Affected women may also experience headaches, dizziness, irritability, shortness of breath, a decrease in urination, upper abdominal pain, and nausea or vomiting. Vision changes may develop, including flashing lights or spots, increased sensitivity to light (photophobia), blurry vision, or temporary blindness.\n\nIn many cases, symptoms of preeclampsia go away within a few days after the baby is born. In severe cases, however, preeclampsia can damage the mother's organs, such as the heart, liver, and kidneys, and can lead to life-threatening complications. Extremely high blood pressure in the mother can cause bleeding in the brain (hemorrhagic stroke). The effects of high blood pressure on the brain (hypertensive encephalopathy) may also result in seizures. If seizures occur, the condition is considered to have worsened to eclampsia, which can result in coma. About 1 in 200 women with untreated preeclampsia develop eclampsia. Eclampsia can also develop without any obvious signs of preeclampsia.\n\nBetween 10 and 20 percent of women with severe preeclampsia develop another potentially life-threatening complication called HELLP syndrome. HELLP stands for hemolysis (premature red blood cell breakdown), elevated liver enzyme levels, and low platelets (cells involved in blood clotting), which are the key features of this condition.\n\nSevere preeclampsia can also affect the fetus, with impairment of blood and oxygen flow leading to growth problems or stillbirth. Infants delivered early due to preeclampsia may have complications associated with prematurity, such as breathing problems caused by underdeveloped lungs.\n\nWomen who have had preeclampsia have approximately twice the lifetime risk of heart disease and stroke than do women in the general population. Researchers suggest that preeclampsia, heart disease, and stroke may share common risk factors. Women who have diseases such as obesity, hypertension, heart disease, diabetes, or kidney disease before they become pregnant have an increased risk of developing preeclampsia. Preeclampsia is most likely to occur in a woman's first pregnancy, although it can occur in subsequent pregnancies, particularly in women with other health conditions.|MedlinePlus Genetics|N|
C0032915|An electrocardiographic finding characterized by a premature activation of the whole or some part of the ventricle. The PR interval is usually shortened and delta waves are frequently present. (CDISC)|NCI|N|
C0032916|A form of ventricular pre-excitation characterized by a normal PR interval and a long QRS interval with an initial slow deflection (delta wave). In this syndrome, the atrial impulse travel to the ventricle via the MAHAIM FIBERS which connect ATRIOVENTRICULAR NODE directly to the right ventricle wall (NODOVENTRICULAR ACCESSORY PATHWAY) or to the RIGHT BUNDLE BRANCH OF HIS (nodofascicular accessory pathway).|MSH|N|
C0032927|A pathological process with signs indicating it may become cancerous. Representative examples include leukoplakia, dysplastic nevus, actinic keratosis, xeroderma pigmentosum, and intraepithelial neoplasia.|NCI|N|
C0032962|The co-occurrence of pregnancy and a disease. The disease may precede or follow conception and it may or may not have a deleterious effect on the pregnant woman or fetus.|NCI|N|
C0032963|The co-occurrence of pregnancy and a cardiovascular disease. The disease may precede or follow FERTILIZATION and it may or may not have a deleterious effect on the pregnant woman or FETUS.|MSH|N|
C0032964|The co-occurrence of pregnancy and a blood disease (HEMATOLOGIC DISEASES) which involves BLOOD CELLS or COAGULATION FACTORS. The hematologic disease may precede or follow FERTILIZATION and it may or may not have a deleterious effect on the pregnant woman or FETUS.|MSH|N|
C0032965|The co-occurrence of pregnancy and an INFECTION. The infection may precede or follow FERTILIZATION.|MSH|N|
C0032966|The co-occurrence of pregnancy and NEOPLASMS. The neoplastic disease may precede or follow FERTILIZATION.|MSH|N|
C0032967|Medical history of maternal diseases, exposures, or other relevant findings during the pregnancy of which the index person was the product.|HPO|N|
C0032968|A pregnancy in an adolescent between the ages of thirteen and nineteen.|NCI|N|
C0032969|The state of PREGNANCY in women with DIABETES MELLITUS. This does not include either symptomatic diabetes or GLUCOSE INTOLERANCE induced by pregnancy (DIABETES, GESTATIONAL) which resolves at the end of pregnancy.|MSH|N|
C0032972|Findings observed at the end of a pregnancy.|NCI|N|
C0032984|Ectopic pregnancy characterized by the implantation of the embryo in the peritoneal cavity or abdominal organs.|NCI|N|
C0032987|A pregnancy in which the fertilized egg inserts in a location outside of the main cavity of the uterus (usually in the Fallopian tube).|HPO|N|
C0032989|A pregnancy involving twins or higher-order multiple fetuses (e.g., triplets, quadruplets).|NCI|N|
C0032991|An abnormal pregnancy in which the conception is implanted on the ovary.|NCI|N|
C0032993|Gestation period extended beyond 42 weeks or 294 days from the first day of the last menstrual period.|SNOMEDCT_US|N|
C0032994|An abnormal pregnancy in which the conception is implanted in the fallopian tube.|NCI|N|
C0032995|Pregnancy, usually accidental, that is not desired by the parent or parents.|MSH|N|
C0033027|Conditions in which the abnormalities in the peripheral blood or bone marrow represent the early manifestations of acute leukemia, but in which the changes are not of sufficient magnitude or specificity to permit a diagnosis of acute leukemia by the usual clinical criteria.|MSH|N|
C0033036|A type of cardiac arrhythmia with premature atrial contractions or beats caused by signals originating from ectopic atrial sites.|HPO|N|
C0033038|The emission of semen and seminal fluid during the act of preparation for sexual intercourse, i.e. before there is penetration, or shortly after penetration.|HPO|N|
C0033046|A combination of distressing physical, psychologic, or behavioral changes that occur during the luteal phase of the menstrual cycle. Symptoms of PMS are diverse (such as pain, water-retention, anxiety, cravings, and depression) and they diminish markedly 2 or 3 days after the initiation of menses.|MSH|N|
C0033074|Bilateral hearing loss caused by progressive degeneration of cochlear structures and central auditory pathways, typically associated with the aging process.|NCI|N|
C0033075|The normal decreasing elasticity of the crystalline lens that leads to loss of accommodation.|MONDO|N|
C0033103|A diffuse, non-pitting edema and thickening of the skin usually on the anterior aspect of the lower legs spreading to the dorsum of the feet.|HPO|N|
C0033117|A painful and harmful medical condition in which the erect penis doesn't return to its flaccid state, despite the absence of both physical and psychological stimulation, within four hours.|HPO|N|
C0033132|A heterogenous group of degenerative syndromes marked by progressive cerebellar dysfunction either in isolation or combined with other neurologic manifestations. Sporadic and inherited subtypes occur. Inheritance patterns include autosomal dominant, autosomal recessive, and X-linked.|MONDO|N|
C0033138|A disorder of central nervous system etiology characterized by excessive sleepiness during the daytime.|NCI|N|
C0033139|A sleep disorder characterized by difficulty initiating or maintaining sleep; this difficulty does not occur in the context of another sleep disorder and is not etiologically linked to a mental disorder, substance use, or a general medical condition.|NCI|N|
C0033141|Disease of the heart muscle associated with electrical or mechanical dysfunction, in which the heart is the sole or predominantly involved organ.|SNOMEDCT_US|N|
C0033150|Pregnant with, or having borne, only one child or offspring.|PSY|N|
C0033213|A difficulty, disorder, or condition needing resolution.|NCI|N|
C0033246|An inflammatory process affecting the anus. It is usually caused by sexually transmitted infectious agents and/or inflammatory bowel disease.|NCI|N|
C0033247|Inflammation of the rectum and colon.|NCI|N|
C0033252|Inflammation of the sigmoid colon and rectum.|NCI|N|
C0033300|Hutchinson-Gilford progeria syndrome (HGPS) is characterized by clinical features that typically develop in childhood and resemble some features of accelerated aging. Children with HGPS usually appear normal at birth. Profound failure to thrive occurs during the first year. Characteristic facial features include head that is disproportionately large for the face, narrow nasal ridge, narrow nasal tip, thin vermilion of the upper and lower lips, small mouth, and retro- and micrognathia. Common features include loss of subcutaneous fat, delayed eruption and loss of primary teeth, abnormal skin with small outpouchings over the abdomen and upper thighs, alopecia, nail dystrophy, coxa valga, and progressive joint contractures. Later findings include low-frequency conductive hearing loss, dental crowding, and partial lack of secondary tooth eruption. Motor and mental development is normal. Death occurs as a result of complications of severe atherosclerosis, either cardiac disease (myocardial infarction or heart failure) or cerebrovascular disease (stroke), generally between ages six and 20 years. Average life span is approximately 14.5 years.|GeneReviews|N|
C0033324|A condition marked by abnormal protrusion of the mandible. (Dorland, 27th ed)|MSH|N|
C0033375|AIP familial isolated pituitary adenoma (AIP-FIPA) is defined as the presence of an AIP germline pathogenic variant in an individual with a pituitary adenoma (regardless of family history). The most commonly occurring pituitary adenomas in this disorder are growth hormone-secreting adenomas (somatotropinoma), followed by prolactin-secreting adenomas (prolactinoma), growth hormone and prolactin co-secreting adenomas (somatomammotropinoma), and nonfunctioning pituitary adenomas (NFPA). Rarely TSH-secreting adenomas (thyrotropinomas) are observed. Clinical findings result from excess hormone secretion, lack of hormone secretion, and/or mass effects (e.g., headaches, visual field loss). Within the same family, pituitary adenomas can be of the same or different type. Age of onset in AIP-FIPA is usually in the second or third decade.|GeneReviews|N|
C0033377|A condition in which an organ or body tissue drops or bulges out of place.|NCI|N|
C0033575|A non-neoplastic or neoplastic disorder that affects the prostate gland. Representative examples include prostatitis, prostatic intraepithelial neoplasia, and carcinoma.|NCI|N|
C0033578|A benign, borderline, or malignant neoplasm that affects the prostate gland. Representative examples include benign prostate phyllodes tumor, prostatic intraepithelial neoplasia, prostate carcinoma, and prostate sarcoma.|NCI|N|
C0033581|The presence of inflammation of the prostate.|HPO|N|
C0033618|The process in which substances, either endogenous or exogenous, bind to proteins, peptides, enzymes, protein precursors, or allied compounds. Specific protein-binding measures are often used as assays in diagnostic assessments.|MSH|N|
C0033626|A nutritional condition produced by a deficiency of proteins in the diet, characterized by adaptive enzyme changes in the liver, increase in amino acid synthetases, and diminution of urea formation, thus conserving nitrogen and reducing its loss in the urine. Growth, immune response, repair, and production of enzymes and hormones are all impaired in severe protein deficiency. Protein deficiency may also arise in the face of adequate protein intake if the protein is of poor quality (i.e., the content of one or more amino acids is inadequate and thus becomes the limiting factor in protein utilization). (From Merck Manual, 16th ed; Harrison''s Principles of Internal Medicine, 12th ed, p406)|MSH|N|
C0033627|Disruption of the non-covalent bonds and/or disulfide bonds responsible for maintaining the three-dimensional shape and activity of the native protein.|MSH|N|
C0033666|The enzymatic processing of a polypeptide chain after translation from messenger RNA and after peptide bond formation has occurred. Examples include glycosylation, acylation, limited proteolysis, phosphorylation, isoprenylation.|NCI|N|
C0033677|A nutritional deficit that is caused by inadequate protein or calorie intake.|NCI|N|
C0033680|Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy (CHAPLE) is characterized by abdominal pain and diarrhea, primary intestinal lymphangiectasia, hypoproteinemic edema, and malabsorption. Some patients also exhibit bowel inflammation, recurrent infections associated with hypogammaglobulinemia, and/or angiopathic thromboembolic disease. Patient T lymphocytes show increased complement activation, causing surface deposition of complement and generating soluble C5a (Ozen et al., 2017).|OMIM|N|
C0033687|Increased levels of protein in the urine.|HPO|N|
C0033700|Infections with bacteria of the genus proteus.|MONDO|N|
C0033735|A disease caused by infection with achlorophyllic algae of the genus Prototheca, the majority caused by the species P. wickerhamii. Clinical manifestations of reported cases have included cutaneous lesions, olecranon bursitis, or systemic involvement.|MONDO|N|
C0033740|An infection that is caused by protozoans.|NCI|N|
C0033741|Infections with unicellular organisms formerly members of the subkingdom Protozoa. The infections may be experimental or veterinary.|MSH|N|
C0033770|In its rare complete form, 'prune belly' syndrome (PBS) comprises megacystis (massively enlarged bladder) with disorganized detrusor muscle, cryptorchidism, and thin abdominal musculature with overlying lax skin (summary by Weber et al., 2011).|OMIM|N|
C0033771|A name applied to several itchy skin eruptions of unknown cause. The characteristic course is the formation of a dome-shaped papule with a small transient vesicle on top, followed by crusting over or lichenification. (From Dorland, 27th ed)|MONDO|N|
C0033774|Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus.|HPO|N|
C0033775|Intense chronic itching in the anal area.|MSH|N|
C0033778|A sensation of itching in the vulvar region.|HPO|N|
C0033785|A pathologic entity characterized by a developmental defect in a long bone leading to bending and pathologic fracture, with inability to form a normal bony callus with subsequent fibrous nonunion, leading to the pseudarthrosis (or "false joint").|HPO|N|
C0033788|GNPTAB-related disorders comprise the phenotypes mucolipidosis II (ML II) and mucolipidosis IIIa/ß (ML IIIa/ß), and phenotypes intermediate between ML II and ML IIIa/ß. ML II is evident at birth and slowly progressive; death most often occurs in early childhood. Orthopedic abnormalities present at birth may include thoracic deformity, kyphosis, clubfeet, deformed long bones, and/or dislocation of the hip(s). Growth often ceases in the second year of life; contractures develop in all large joints. The skin is thickened, facial features are coarse, and gingiva are hypertrophic. All children have cardiac involvement, most commonly thickening and insufficiency of the mitral valve and, less frequently, the aortic valve. Progressive mucosal thickening narrows the airways, and gradual stiffening of the thoracic cage contributes to respiratory insufficiency, the most common cause of death. ML IIIa/ß becomes evident at about age three years with slow growth rate and short stature; joint stiffness and pain initially in the shoulders, hips, and fingers; gradual mild coarsening of facial features; and normal to mildly impaired cognitive development. Pain from osteoporosis becomes more severe during adolescence. Cardiorespiratory complications (restrictive lung disease, thickening and insufficiency of the mitral and aortic valves, left and/or right ventricular hypertrophy) are common causes of death, typically in early to middle adulthood. Phenotypes intermediate between ML II and ML IIIa/ß are characterized by physical growth in infancy that resembles that of ML II and neuromotor and speech development that resemble that of ML IIIa/ß.|GeneReviews|N|
C0033790|Bilateral impairment of the function of the cranial nerves 9-12, which control musculature involved in eating, swallowing, and speech. Pseudobulbar paralysis is characterized clinically by dysarthria, dysphonia, and dysphagia with bifacial paralysis, and may be accompanied by Pseudobulbar behavioral symptoms such as enforced crying and laughing.|HPO|N|
C0033797|Dementia-like disorder in the absence of organic brain disease.|PSY|N|
C0033802|An acute episode of pain, swelling, and redness, sometimes associated with fever. It is caused by the deposition of calcium pyrophosphate crystals in the joints.|NCI|N|
C0033804|A condition consisting of possessing the internal reproductive organs of one sex while exhibiting some of the secondary sex characteristics of the opposite sex.|NCI|N|
C0033805|A state of renal tubular unresponsiveness or resistance to the action of aldosterone.|HPO|N|
C0033806|Disorders of GNAS inactivation include the phenotypes pseudohypoparathyroidism Ia, Ib, and Ic (PHP-Ia, -Ib, -Ic), pseudopseudohypoparathyroidism (PPHP), progressive osseous heteroplasia (POH), and osteoma cutis (OC). PHP-Ia and PHP-Ic are characterized by: End-organ resistance to endocrine hormones including parathyroid hormone (PTH), thyroid-stimulating hormone (TSH), gonadotropins (LH and FSH), growth hormone-releasing hormone (GHRH), and CNS neurotransmitters (leading to obesity and variable degrees of intellectual disability and developmental delay); and The Albright hereditary osteodystrophy (AHO) phenotype (short stature, round facies, and subcutaneous ossifications) and brachydactyly type E (shortening mainly of the 4th and/or 5th metacarpals and metatarsals and distal phalanx of the thumb). Although PHP-Ib is characterized principally by PTH resistance, some individuals also have partial TSH resistance and mild features of AHO (e.g., brachydactyly). PPHP, a more limited form of PHP-Ia, is characterized by various manifestations of the AHO phenotype without the hormone resistance or obesity. POH and OC are even more restricted variants of PPHP: POH consists of dermal ossification beginning in infancy, followed by increasing and extensive bone formation in deep muscle and fascia. OC consists of extra-skeletal ossification that is limited to the dermis and subcutaneous tissues.|GeneReviews|N|
C0033817|Infections with bacteria of the genus pseudomonas.|MONDO|N|
C0033822|Pseudomyxoma peritonei is characterized by disseminated intra-peritoneal mucinous tumors and mucinous ascites in the abdomen and pelvis.|ORDO|N|
C0033835|Disorders of GNAS inactivation include the phenotypes pseudohypoparathyroidism Ia, Ib, and Ic (PHP-Ia, -Ib, -Ic), pseudopseudohypoparathyroidism (PPHP), progressive osseous heteroplasia (POH), and osteoma cutis (OC). PHP-Ia and PHP-Ic are characterized by: End-organ resistance to endocrine hormones including parathyroid hormone (PTH), thyroid-stimulating hormone (TSH), gonadotropins (LH and FSH), growth hormone-releasing hormone (GHRH), and CNS neurotransmitters (leading to obesity and variable degrees of intellectual disability and developmental delay); and The Albright hereditary osteodystrophy (AHO) phenotype (short stature, round facies, and subcutaneous ossifications) and brachydactyly type E (shortening mainly of the 4th and/or 5th metacarpals and metatarsals and distal phalanx of the thumb). Although PHP-Ib is characterized principally by PTH resistance, some individuals also have partial TSH resistance and mild features of AHO (e.g., brachydactyly). PPHP, a more limited form of PHP-Ia, is characterized by various manifestations of the AHO phenotype without the hormone resistance or obesity. POH and OC are even more restricted variants of PPHP: POH consists of dermal ossification beginning in infancy, followed by increasing and extensive bone formation in deep muscle and fascia. OC consists of extra-skeletal ossification that is limited to the dermis and subcutaneous tissues.|GeneReviews|N|
C0033838|Kimura disease is a benign and chronic inflammatory disorder of unknown etiology, occurring mainly in Asian countries (very rarely in Western countries) and predominantly affecting young men, that usually presents with solitary or multiple non-tender subcutaneous masses in the head and neck region (in particular the preauricular and submandibular area) and/or generalized painless lymphadenopathy, often with salivary gland involvement. Characteristic laboratory findings include blood eosinophilia and markedly elevated serum immunoglobulin E (IgE) levels. It is often associated with autoinflammatory disorders (i.e. ulcerative colitis, bronchial asthma) and a co-existing renal disease.|ORDO|N|
C0033839|A highly contagious herpesvirus infection affecting the central nervous system of swine, cattle, dogs, cats, rats, and other animals.|MONDO|N|
C0033845|Idiopathic intracranial hypertension is a neurological disorder characterized by isolated increased intracranial pressure manifesting with recurrent and persistent headaches, nausea, vomiting, progressive and transient obstruction of the visual field, papilledema. Visual loss can be irreversible.|ORDO|N|
C0033847|Pseudoxanthoma elasticum (PXE) is a progressive disorder that is characterized by the accumulation of deposits of calcium and other minerals (mineralization) in elastic fibers. Elastic fibers are a component of connective tissue, which provides strength and flexibility to structures throughout the body.\n\nIn PXE, mineralization can affect elastic fibers in the skin, eyes, and blood vessels, and less frequently in other areas such as the digestive tract. People with PXE may have yellowish bumps called papules on their necks, underarms, and other areas of skin that touch when a joint bends (flexor areas). They may also have abnormalities in the eyes, such as a change in the pigmented cells of the retina (the light-sensitive layer of cells at the back of the eye) known as peau d'orange. Another eye abnormality known as angioid streaks occurs when tiny breaks form in the layer of tissue under the retina called Bruch's membrane. Bleeding and scarring of the retina may also occur, which can cause vision loss.\n\nMineralization of the blood vessels that carry blood from the heart to the rest of the body (arteries) may cause other signs and symptoms of PXE. For example, people with this condition can develop narrowing of the arteries (arteriosclerosis) or a condition called claudication that is characterized by cramping and pain during exercise due to decreased blood flow to the arms and legs. Rarely, bleeding from blood vessels in the digestive tract may also occur.|MedlinePlus Genetics|N|
C0033860|An autoimmune condition characterized by red, well-delineated plaques with silvery scales that are usually on the extensor surfaces and scalp. They can occasionally present with these manifestations: pustules; erythema and scaling in intertriginous areas, and erythroderma, that are often distributed on extensor surfaces and scalp.|NCI|N|
C0033893|A type of headache that last hours with continuous pain of mild or moderate intensity, bilateral location, a pressing/tightening (non-pulsating) quality and that is not aggravated by routine physical activity such as walking or climbing stairs.|HPO|N|
C0033922|Abnormalities of motor function that are associated with organic and non-organic cognitive disorders.|MSH|N|
C0033931|A group of disorders characterized by physical symptoms that are affected by emotional factors and involve a single organ system, usually under AUTONOMIC NERVOUS SYSTEM control. (American Psychiatric Glossary, 1988)|MSH|N|
C0033936|A group of mental disorders associated with organic brain damage and caused by poisoning from alcohol.|MONDO|N|
C0033937|Psychotic organic mental disorders resulting from the toxic effect of drugs and chemicals or other harmful substance.|MONDO|N|
C0033941|Psychotic organic mental disorders resulting from the toxic effect of drugs and chemicals or other harmful substance.|MSH|N|
C0033944|The stages of development of the psychological aspects of sexuality from birth to adulthood; i.e., oral, anal, genital, and latent periods.|MSH|N|
C0033948|A sexual disorder in which a woman fails to achieve orgasm during sexual intercourse.|NCI|N|
C0033949|Persistent delay or absence in orgasm not accounted for by a medical reason.|NCI|N|
C0033950|Recurrent and persistent suppression of sexual excitement during sexual activity.|NCI|N|
C0033953|Disturbances in sexual desire and the psychophysiologic changes that characterize the sexual response cycle and cause marked distress and interpersonal difficulty. (APA, DSM-IV, 1994)|MSH|N|
C0033958|A disorder characterized by delusions, hallucinations, disorganized speech, and/or grossly disorganized behavior that resolve within a month.|NCI|N|
C0033975|A condition characterized by changes in personality and thought patterns, often accompanied by hallucinations and delusional beliefs, is known as psychosis.|HPO|N|
C0033999|Pterygia are 'winglike' triangular membranes occurring in the neck, eyes, knees, elbows, ankles or digits.|HPO|N|
C0034012|Passing the age when puberty normally occurs with no physical or hormonal signs of the onset of puberty.|HPO|N|
C0034013|The onset of secondary sexual characteristics before a normal age. Although it is difficult to define normal age ranges because of the marked variation with which puberty begins in normal children, precocious puberty can be defined as the onset of puberty before the age of 8 years in girls or 9 years in boys.|HPO|N|
C0034040|Disorders or diseases associated with puerperium, the six-to-eight-week period immediately after parturition in humans.|MONDO|N|
C0034041|An infection occurring in puerperium, the period of 6-8 weeks after giving birth.|MONDO|N|
C0034049|A contagious, neoplastic, pulmonary disease of sheep characterized by hyperplasia and hypertrophy of pneumocytes and epithelial cells of the lung. It is caused by JAAGSIEKTE SHEEP RETROVIRUS.|MSH|N|
C0034059|The amount of a gas taken up, by the pulmonary capillary blood from the alveolar gas, per minute per unit of average pressure of the gradient of the gas across the BLOOD-AIR BARRIER.|MSH|N|
C0034063|Fluid accumulation in the lungs.|HPO|N|
C0034065|An embolus (that is, an abnormal particle circulating in the blood) located in the pulmonary artery and thereby blocking blood circulation to the lung. Usually the embolus is a blood clot that has developed in an extremity (for instance, a deep venous thrombosis), detached, and traveled through the circulation before becoming trapped in the pulmonary artery.|HPO|N|
C0034067|A subcategory of chronic obstructive pulmonary disease (COPD). It occurs in people who smoke and suffer from chronic bronchitis. It is characterized by inflation of the alveoli, alveolar wall damage, and reduction in the number of alveoli, resulting in difficulty breathing.|NCI|N|
C0034068|A condition characterized by infiltration of the lung with eosinophils due to inflammation or other disease processes. Major eosinophilic lung diseases are the eosinophilic pneumonias caused by infections, allergens, or toxic agents.|MONDO|N|
C0034069|Replacement of normal lung tissues by fibroblasts and collagen.|HPO|N|
C0034072|Right-sided heart failure resulting from chronic hypertension in the pulmonary arteries and right ventricle.|HPO|N|
C0034074|Localized necrosis of lung tissue caused by obstruction of the arterial blood supply, most often due to pulmonary embolism.|NCI|N|
C0034079|Focal rounded or ovoid opacity, not more than 3 cm in diameter. Pulmonary nodules are typically observed by chest radiography or computer tomography imaging.|HPO|N|
C0034084|The obstruction of the right ventricular outflow tract that originates within the body of the right ventricle, that exists at the time of birth; it often occurs in association with other intracardiac anomalies.|NCI|N|
C0034087|A heart disorder characterized by a defect in pulmonary valve structure or function.|NCI|N|
C0034088|The retrograde (backwards) flow of blood through the pulmonary valve into the right ventricle during diastole.|HPO|N|
C0034089|The pathologic narrowing of the orifice of the pulmonary valve. This lesion restricts blood outflow from the right ventricle to the pulmonary artery. When the trileaflet valve is fused into an imperforate membrane, the blockage is complete.|MONDO|N|
C0034091|A disorder characterized by pulmonary venous constriction or occlusion, resulting in pulmonary hypertension.|NCI|N|
C0034100|Deterioration of the normal pulp tissue.|NCI|N|
C0034103|Inflammation of the dental pulp.|NCI|N|
C0034124|Condition which affects the structures or function of the pupil of the eye.|NCI|N|
C0034139|Dysfunctions in the metabolism of PURINES or PYRIMIDINES resulting from inborn genetic mutations that are inherited or acquired in utero.|MSH|N|
C0034150|Purpura (from Latin|HPO|N|
C0034151|Purplish or brownish red discoloration of the skin associated with increase in circulating polyclonal globulins, usually gamma-globulins. This syndrome often occurs on the legs of women aged 20 to 40 years.|MONDO|N|
C0034152|A rare, small-vessel vasculitis characterized by skin purpura, arthritis, abdominal and/or renal involvement, IgA tissue deposits (arterioles, capillaries, and venules) and circulating IgA immune complexes.|ORDO|N|
C0034155|An aggressive and life-threatening form of thrombotic microangiopathy (TMA) characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and organ failure of variable severity and is comprised of a congenital (cTTP) and acquired, immune-mediated (iTTP) form.|ORDO|N|
C0034183|Inflammation of the renal pelvis.|NCI|N|
C0034184|Inflammation of the KIDNEY PELVIS and the URINARY BLADDER.|MSH|N|
C0034186|An inflammation of the kidney involving the parenchyma of kidney, the renal pelvis and the kidney calices.|HPO|N|
C0034188|Xanthogranulomatous pyelonephritis is a granulomatous inflammatory infiltrate composed of neutrophils, lymphocytes, plasma cells, xanthomatous histiocytes, and multinucleated giant cells.|HPO|N|
C0034189|Septicemia caused by pyogenic microorganisms (e.g., STAPHYLOCOCCUS; BACILLUS), resulting in the formation of secondary foci of SUPPURATION and multiple ABSCESSES.|MSH|N|
C0034194|Narrowing of the pyloric lumen caused either by hypertrophy of the surrounding muscles or tissue scarring due to a chronic peptic ulcer.|NCI|N|
C0034212|Any manifestation of a skin disease associated with the production of pus.|HPO|N|
C0034214|A lobular hemangioma arising from the skin and attached subcutaneous tissues.|NCI|N|
C0034215|An infectious process characterized by the accumulation of pus within the uterus.|NCI|N|
C0034216|Pus within the collecting system of the kidney.|NCI|N|
C0034220|The presence of pus in the fallopian tube. It is usually caused by acute salpingitis. The fallopian tube is distended and filled with pus. Histologic examination reveals edema and acute and chronic inflammation. Symptoms include fever, vaginal discharge, and pelvic pain.|NCI|N|
C0034223|An abscess that is located in the ureter.|NCI|N|
C0034341|Pyruvate carboxylase (PC) deficiency is characterized in most affected individuals by failure to thrive, developmental delay, recurrent seizures, and metabolic acidosis. Three clinical types are recognized: Type A (infantile form), in which most affected children die in infancy or early childhood. Type B (severe neonatal form), in which affected infants have hepatomegaly, pyramidal tract signs, and abnormal movement and die within the first three months of life. Type C (intermittent/benign form), in which affected individuals have normal or mildly delayed neurologic development and episodic metabolic acidosis.|GeneReviews|N|
C0034345|Pyruvate dehydrogenase deficiency is characterized by the buildup of a chemical called lactic acid in the body and a variety of neurological problems. Signs and symptoms of this condition usually first appear shortly after birth, and they can vary widely among affected individuals. The most common feature is a potentially life-threatening buildup of lactic acid (lactic acidosis), which can cause nausea, vomiting, severe breathing problems, and an abnormal heartbeat. People with pyruvate dehydrogenase deficiency usually have neurological problems as well. Most have delayed development of mental abilities and motor skills such as sitting and walking. Other neurological problems can include intellectual disability, seizures, weak muscle tone (hypotonia), poor coordination, and difficulty walking. Some affected individuals have abnormal brain structures, such as underdevelopment of the tissue connecting the left and right halves of the brain (corpus callosum), wasting away (atrophy) of the exterior part of the brain known as the cerebral cortex, or patches of damaged tissue (lesions) on some parts of the brain. Because of the severe health effects, many individuals with pyruvate dehydrogenase deficiency do not survive past childhood, although some may live into adolescence or adulthood.|MedlinePlus Genetics|N|
C0034350|Hereditary disorders of pyruvate metabolism. They are difficult to diagnose and describe because pyruvate is a key intermediate in glycolysis, gluconeogenesis, and the tricarboxylic acid cycle. Some inherited metabolic disorders may alter pyruvate metabolism indirectly. Disorders in pyruvate metabolism appear to lead to deficiencies in neurotransmitter synthesis and, consequently, to nervous system disorders.|MSH|N|
C0034359|The presence of 10 or more white cells per cubic millimeter in a urine specimen, 3 or more white cells per high-power field of unspun urine, a positive result on Gram staining of an unspun urine specimen, or a urinary dipstick test that is positive for leukocyte esterase.|HPO|N|
C0034362|Q fever, caused by <i>Coxiella burnetii</i>, is a bacterial zoonosis with a wide clinical spectrum that can be life-threatening and, in some cases, can become chronic.|ORDO|N|
C0034372|Paralysis of all four limbs, and trunk of the body below the level of an associated injury to the spinal cord. The etiology of quadriplegia is similar to that of paraplegia except that the lesion is in the cervical spinal cord rather than in the thoracic or lumbar segments of the spinal cord.|HPO|N|
C0034494|Rabies is a viral zoonosis leading to a fatal encephalopathy if not treated.|ORDO|N|
C0034543|An odontogenic cyst of inflammatory origin associated with non-vital teeth. The maxilla is the most common site of involvement. Many radicular cysts are symptomless and discovered incidentally on radiological examination of a carious or non-vital tooth. (WHO 2017)|NCI|N|
C0034544|An inflammatory process affecting a nerve root. Patients experience pain radiating along a nerve path because of spinal pressure on the nerve root that connects to the nerve path.|NCI|N|
C0034642|Crackles are discontinuous, explosive, and nonmusical adventitious lung sounds normally heard in inspiration and sometimes during expiration. Crackles are usually classified as fine and coarse crackles based on their duration, loudness, pitch, timing in the respiratory cycle, and relationship to coughing and changing body position.|HPO|N|
C0034686|Rat-bite fever (RBF) is a systemic bacterial zoonosis occurring in individuals that have been bitten or scratched by <i>Streptobacillus moniliformis</i> or <i>Spirillum minus</i>-infected rats and characterized by high fever, a rash on the extremities, and arthralgia.|ORDO|N|
C0034734|An episodic vasoconstriction resulting in discoloration of the skin and pain in the affected areas, often involving fingers or toes. Classically associated with triphasic color changes (white, blue, red) but may be biphasic. Often occurs in response to cold temperatures or emotional stress. May be primary or secondary to an underlying autoimmune disease.|MONDO|N|
C0034735|An episodic vasoconstriction resulting in discoloration of the skin and pain in the affected areas, often involving fingers or toes. Classically associated with triphasic color changes (white, blue, red) but may be biphasic. Often occurs in response to cold temperatures or emotional stress. May be primary or secondary to an underlying autoimmune disease.|NCI|N|
C0034748|A condition in which the failure to establish healthy bonds with caregivers in early childhood leads to lifelong impairment of social interactions.|NCI|N|
C0034780|Chemically stimulated aggregation of cell surface receptors, which potentiates the action of the effector cell.|MSH|N|
C0034880|Over-sensitivity to certain frequency ranges of sound.|HPO|N|
C0034882|A disease that involves the rectum.|MONDO|N|
C0034884|The presence of a fistula affecting the rectum.|HPO|N|
C0034885|A benign or malignant neoplasm that affects the rectum. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma. Rectal adenomas always exhibit epithelial dysplasia and are considered premalignant neoplasms.|NCI|N|
C0034886|Pain in the rectal area.|NCI|N|
C0034887|The presence of multiple rectal hyperplastic/adenomatous polyps.|HPO|N|
C0034888|Protrusion of the rectal mucous membrane through the anus.|HPO|N|
C0034895|The presence of a fistula between the vagina and the rectum.|HPO|N|
C0034902|A type of anemia resulting from suppression of erythropoiesis with little or no abnormality of leukocyte or platelet production. Erythroblasts are virtually absent in bone marrow; however, leukocyte and platelet production show little or no reduction.|HPO|N|
C0034931|Complex regional pain syndrome type 1 (CRPS1) is a form of complex regional pain syndrome (see this term) in which the pain is disproportionate to any known inciting event and is characterized by continuous pain, allodynia, or hyperalgesia as well as edema, coloration (changes in skin blood flow), or abnormal sudomotor activity in the region of pain. Onset of CRPS1 symptoms may occur within a few days to a month after an injury or trauma to the affected limb.|ORDO|N|
C0034933|Any anomaly of a reflex, i.e., of an automatic response mediated by the nervous system (a reflex does not need the intervention of conscious thought to occur).|HPO|N|
C0034935|Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract.|HPO|N|
C0034951|A defect in the focusing of light on the retina as in astigmatism, myopia, or hyperopia.|NCI|N|
C0034960|Adult Refsum disease (ARD is associated with elevated plasma phytanic acid levels, late childhood-onset (or later) retinitis pigmentosa, and variable combinations of anosmia, polyneuropathy, deafness, ataxia, and ichthyosis. Onset of symptoms ranges from age seven months to older than age 50 years. Cardiac arrhythmia and heart failure caused by cardiomyopathy are potentially severe health problems that develop later in life.|GeneReviews|N|
C0034989|GASTROESOPHAGEAL REFLUX wherein the retrograde flow passes through the UPPER ESOPHAGEAL SPHINCTER|MSH|N|
C0035012|A rare, reactive inflammatory disorder seen following bacterial infection. It predominantly affects males aged 20-40. Individuals with HLA-B27 antigen are estimated to have a 50 % increased risk. The disorder is characterized by arthritis, conjunctivitis, uveitis, iritis and ulceration of the oral cavity, genitals and volar surfaces of the hands and feet. The clinical course is self-limited with resolution of clinical disease usually within six months of onset.|NCI|N|
C0035021|Relapsing fever is an infection caused by bacteria of the genus <i>Borrelia</i>, excluding those responsible for Lyme disease (see this term) belonging to the <i>Borrelia burgdorferi</i> complex.|ORDO|N|
C0035022|An infection that is caused by certain species of Rickettsia or Borrelia, which are transmitted to humans from infected ticks; it is characterized by sudden fever, chills, headaches, myalgia, arthralgia, nausea, and possibly a rash. Symptoms usually persist for two to nine days, then disappear, with recurrence after several weeks if the patient remains untreated.|NCI|N|
C0035066|Narrowing or occlusion of the renal artery or arteries. It is due usually to atherosclerosis; fibromuscular dysplasia; thrombosis; embolism, or external pressure. The reduced renal perfusion can lead to renovascular hypertension (hypertension, renovascular).|MONDO|N|
C0035067|The presence of stenosis of the renal artery.|HPO|N|
C0035078|An acute or chronic condition that is characterized by the inability of the kidneys to adequately filter the blood.|NCI|N|
C0035085|Ischemic necrosis of the kidney caused by interruption of the blood supply to the area.|NCI|N|
C0035086|Abnormalities of bone mineral metabolism associated with chronic kidney disease.|NCI|N|
C0035091|Genetic defects in the selective or non-selective transport functions of the kidney tubules.|MONDO|N|
C0035112|Infections produced by reoviruses, general or unspecified.|MONDO|N|
C0035127|Repetitive motion disorders are painful musculoskeletal conditions that are due to repeated motions performed during daily activities.|SNOMEDCT_US|N|
C0035204|A non-neoplastic or neoplastic disorder that affects the respiratory system. Representative examples include pneumonia, chronic obstructive pulmonary disease, pulmonary failure, lung adenoma, lung carcinoma, and tracheal carcinoma.|NCI|N|
C0035213|The total volume of gas inspired or expired per unit of time, usually measured in liters per minute.|MSH|N|
C0035220|Arrest of lung development in the cananicular stage (weeks 18 to 26 of human gestation) resulting in simplified acinar spaces, frequently with abundant intervening mesenchyme and no alveoli. In later arrest growth stages early saccular formations may be seen. May resemble the lobular maldevelopment often seen in alveolar capillary dysplasia/misaligment of the pulmonary veins without vein misalignment or marked hypertensive changes of the pulmonary arteries.|HPO|N|
C0035222|A very severe form of acute pulmonary failure secondary to capillary permeability impairment. The symptoms include dyspnea, hypotension and multivisceral failure. The disease is characterized by bilateral pulmonary infiltrates and severe hypoxemia due to increased alveolar-capillary permeability. The severity depends on the degree of alveolar epithelial injury, with a mortality rate of 30-50%.|ORDO|N|
C0035228|An increased sensitivity of the airways to an inhaled constrictor agonist, a steeper slope of the dose-response curve, and a greater maximal response to the agonist.|HPO|N|
C0035229|Impairment of gas exchange within the lungs secondary to a disease process, neoplasm, or trauma, possibly resulting in hypoxia, hypercarbia, or both, but not requiring intubation or mechanical ventilation. Patients are normally managed with pharmaceutical therapy, supplemental oxygen, or both.|NCI|N|
C0035232|Inability to move the muscles of respiration.|HPO|N|
C0035235|Infection with the respiratory syncytial virus, an RNA virus of the genus Pneumovirus, in the family Paramyxoviridae, which is characterized by the formation of syncytia in tissue culture. It causes minor respiratory infection with rhinitis and cough in adults, but is capable of causing severe bronchitis and bronchopneumonia in young children.|NCI|N|
C0035238|An abnormality of the respiratory system that is present at birth or detected in the neonatal period.|NCI|N|
C0035242|Diseases involving the RESPIRATORY SYSTEM.|MSH|N|
C0035243|An infection of the upper or lower respiratory tract.|HPO|N|
C0035244|A tumor (abnormal growth of tissue) of the respiratory system.|HPO|N|
C0035258|Restless Leg Syndrome (RLS) is a condition characterized by an uncomfortable and restless sensation in the legs that occurs after going to bed, often leading to insomnia.|HPO|N|
C0035268|Variation occurring within a species in the length of DNA fragments generated by a specific endonuclease. Such variations are generated by mutations that create or abolish recognition sites for these enzymes.|NCI|N|
C0035281|A cyst that is formed because of the blockage of the duct of a glandular organ. This results in the retention of the glandular secretions.|NCI|N|
C0035288|A greater than normal number of blood cells in the reticuloendothelial system.|NCI|N|
C0035290|A rare cutaneous lesion composed of eosinophilic histiocytes, which are often multinucleated. The lesions are yellow-brown papules affecting any part of the body. Patients are usually adult men. The prognosis is excellent. -- 2003|NCI|N|
C0035300|A structural abnormality of the retina.|HPO|N|
C0035302|Blockage of the retinal artery, generally associated with interruption of blood flow and oxygen delivery to the retina.|HPO|N|
C0035304|A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells.|HPO|N|
C0035305|Primary or spontaneous detachment of the retina occurs due to underlying ocular disease and often involves the vitreous as well as the retina. The precipitating event is formation of a retinal tear or hole, which permits fluid to accumulate under the sensory layers of the retina and creates an intraretinal cleavage that destroys the neurosensory process of visual reception. Vitreoretinal degeneration and tear formation are painless phenomena, and in most cases, significant vitreoretinal pathology is found only after detachment of the retina starts to cause loss of vision or visual field. Without surgical intervention, retinal detachment will almost inevitably lead to total blindness (summary by McNiel and McPherson, 1971).|OMIM|N|
C0035309|Any noninflammatory disease of the retina. This nonspecific term is retained here because of its wide use in the literature, but if possible new annotations should indicate the precise type of retinal abnormality.|HPO|N|
C0035312|Colloid or hyaline bodies lying beneath the retinal pigment epithelium. They may occur either secondary to changes in the choroid that affect the pigment epithelium or as an autosomal dominant disorder of the retinal pigment epithelium.|MONDO|N|
C0035313|The presence of developmental dysplasia of the retina.|HPO|N|
C0035317|Hemorrhage occurring within the retina.|HPO|N|
C0035319|Mild to fulminant necrotizing vaso-occlusive retinitis associated with a high incidence of retinal detachment and poor vision outcome.|MONDO|N|
C0035320|In wound repair, neovascularization (NV) involves the sprouting of new vessels from pre-existent vessels to repair or replace damaged vessels. In the retina, NV is a response to ischemia. The NV adheres to the inner surface of the retina and outer surface of the vitreous. NV are deficient in tight junctions and hence leak plasma into surrounding tissue including the vitreous. Plasma causes the vitreous gel to degenerate, contract, and eventually collapse which pulls on the retina. Since retinal NV is adherent to both retina and vitreous, as the vitreous contracts the NV may be sheared resulting in vitreous hemorrhage or the NV may remain intact and pull the retina with the vitreous resulting in retinal elevation referred to as traction retinal detachment.|HPO|N|
C0035321|A small hole through the whole thickness of the retina.|HPO|N|
C0035326|An occlusion of the retinal vasculature.|NCI|N|
C0035328|Blockage of the retinal vein.|HPO|N|
C0035333|Inflammation of the retina of the eye.|HPO|N|
C0035334|Retinitis pigmentosa (RP) refers to a heterogeneous group of inherited ocular diseases that result in a progressive retinal degeneration affecting 1 in 3,000 to 5,000 people (Veltel et al., 2008). Symptoms include night blindness, the development of tunnel vision, and slowly progressive decreased central vision starting at approximately 20 years of age. Upon examination, patients have decreased visual acuity, constricted visual fields, dyschromatopsia (tritanopic; see 190900), and the classic fundus appearance with dark pigmentary clumps in the midperiphery and perivenous areas ('bone spicules'), attenuated retinal vessels, cystoid macular edema, fine pigmented vitreous cells, and waxy optic disc pallor. RP is associated with posterior subcapsular cataracts in 39 to 72% of patients, high myopia, astigmatism, keratoconus, and mild hearing loss in 30% of patients (excluding patients with Usher syndrome; see 276900). Fifty percent of female carriers of X-linked RP have a golden reflex in the posterior pole (summary by Kaiser et al., 2004).
Juvenile Retinitis Pigmentosa
Autosomal recessive childhood-onset severe retinal dystrophy is a heterogeneous group of disorders affecting rod and cone photoreceptors simultaneously. The most severe cases are termed Leber congenital amaurosis (see 204000), whereas the less aggressive forms are usually considered juvenile retinitis pigmentosa (Gu et al., 1997).
Autosomal recessive forms of juvenile retinitis pigmentosa can be caused by mutation in the SPATA7 (609868), LRAT (604863), and TULP1 (602280) genes (see LCA3, 604232, LCA14, 613341, and LCA15, 613843, respectively).
An autosomal dominant form of juvenile retinitis pigmentosa (see 604393) is caused by mutation in the AIPL1 gene (604392).|OMIM|N|
C0035335|Retinoblastoma is a malignant tumor of the developing retina that occurs in children, usually before age five years. Retinoblastoma develops from cells that have cancer-predisposing variants in both copies of RB1. Retinoblastoma may be unifocal or multifocal. About 60% of affected individuals have unilateral retinoblastoma with a mean age of diagnosis of 24 months; about 40% have bilateral retinoblastoma with a mean age of diagnosis of 15 months. Heritable retinoblastoma is an autosomal dominant susceptibility for retinoblastoma. Individuals with heritable retinoblastoma are also at increased risk of developing non-ocular tumors.|GeneReviews|N|
C0035344|An avascular or abnormally vascularized retina that occurs in premature infants and can lead to blindness.|HPO|N|
C0035345|To stop working at one''s occupation; the state of being retired.|NCI|N|
C0035352|Pathological processes involving the vestibulocochlear nerve; brainstem; or central nervous system. When hearing loss is due to retrocochlear pathology, it is called retrocochlear hearing loss.|MONDO|N|
C0035353|An abnormality in which the mandible is mislocalised posteriorly.|HPO|N|
C0035354|Pathologic changes that occur in the axon and cell body of a neuron proximal to an axonal lesion. The process is characterized by central chromatolysis which features flattening and displacement of the nucleus, loss of Nissl bodies, and cellular edema. Central chromatolysis primarily occurs in lower motor neurons.|MSH|N|
C0035357|A rare systemic autoimmune disease characterized by mass-forming, potentially destructive inflammation and fibrosis in the soft tissues of the retroperitoneum, associated with elevation of serum IgG4 levels and infiltration of IgG4-positive plasma cells in at least one organ or site. Most frequent locations are peripheral to the abdominal aorta, as well as the iliac and renal arteries. Clinical symptoms are unspecific and include abdominal pain, back pain, and edema of the lower extremities. The condition may occur together with IgG4-related disease in other parts of the body.|ORDO|N|
C0035358|A benign or malignant neoplasm that affects the retroperitoneum.|NCI|N|
C0035369|Virus diseases caused by the RETROVIRIDAE.|MSH|N|
C0035372|The spectrum of MECP2-related phenotypes in females ranges from classic Rett syndrome to variant Rett syndrome with a broader clinical phenotype (either milder or more severe than classic Rett syndrome) to mild learning disabilities; the spectrum in males ranges from severe neonatal encephalopathy to pyramidal signs, parkinsonism, and macroorchidism (PPM-X) syndrome to severe syndromic/nonsyndromic intellectual disability. Females: Classic Rett syndrome, a progressive neurodevelopmental disorder primarily affecting girls, is characterized by apparently normal psychomotor development during the first six to 18 months of life, followed by a short period of developmental stagnation, then rapid regression in language and motor skills, followed by long-term stability. During the phase of rapid regression, repetitive, stereotypic hand movements replace purposeful hand use. Additional findings include fits of screaming and inconsolable crying, autistic features, panic-like attacks, bruxism, episodic apnea and/or hyperpnea, gait ataxia and apraxia, tremors, seizures, and acquired microcephaly. Males: Severe neonatal-onset encephalopathy, the most common phenotype in affected males, is characterized by a relentless clinical course that follows a metabolic-degenerative type of pattern, abnormal tone, involuntary movements, severe seizures, and breathing abnormalities. Death often occurs before age two years.|GeneReviews|N|
C0035400|A rare, systemic disease characterized by persistent vomiting with confusion, lethargy, disorientation, hyperreflexia, hyperventilation, and tachycardia, with rapid progression to seizures, non-inflammatory encephalopathy, coma and death. It typically develops between 12 hours and 3 weeks after recovery from a viral illness, such as upper respiratory tract infection or gastroenteritis. Hepatomegaly, acute hepatic steatosis, fatty liver degeneration and multiple laboratory abnormalities are associated.|ORDO|N|
C0035404|The mother develops antibodies against red blood cell Rhesus antigens. This may lead to potential fetal adverse outcomes such as anemia.|NCI|N|
C0035410|Breakdown of muscle fibers that leads to the release of muscle fiber contents (myoglobin) into the bloodstream.|HPO|N|
C0035411|A benign tumor of striated muscle.|HPO|N|
C0035412|A malignant soft tissue tumor which develops from cells of striated muscle. It is the most common form of tumor found in children and adolescents.|ORDO|N|
C0035435|Disorders of connective tissue, especially the joints and related structures, characterized by inflammation, degeneration, or metabolic derangement.|MSH|N|
C0035436|Rheumatic fever (RF) is a multisystem inflammatory disease occurring as a post-infectious, nonsuppurative sequela of untreated streptococcus pyogenes (Group A streptococcus [GAS]) pharyngitis, and mainly occurs in individuals aged 5 to 15 years. The most common presenting signs are fever, migratory polyarthritis and carditis.|ORDO|N|
C0035439|An autoinflammatory condition following an infection with Group A Beta Hemolytic Streptococcus (GABHS), in which the heart is attacked by antibodies formed in reaction to a recent GABHS infection. Chief anatomic changes of the valve include leaflet thickening, commissural fusion, and shortening and thickening of the tendinous cords, all of which can result in valvular dysfunction.|NCI|N|
C0035440|Pancarditis, involving inflammation of the endocardium, myocardium, and epicardium. It results from an autoimmune reaction following an infection with Streptococcus pyogenes (Group A Streptococci).|NCI|N|
C0035441|A small round or oval, mostly subcutaneous nodule made up chiefly of a mass of Aschoff bodies and seen in cases of rheumatic fever. It is differentiated from the RHEUMATOID NODULE which appears in rheumatoid arthritis, most frequently over bony prominences. (From Dorland, 27th ed)|MSH|N|
C0035450|A well circumscribed lump of tissue, firm to touch, typically non-tender, predominantly occurring as a cutaneous manifestation of rheumatoid arthritis localized to extensor surfaces near joints, but may be internal.|NCI|N|
C0035455|Inflammation of the nasal mucosa with nasal congestion.|HPO|N|
C0035457|Allergic rhinitis caused by indoor allergens and lasting year round.|NCI|N|
C0035459|A chronic inflammation in which the nasal mucosa gradually changes from a functional to a non-functional lining without mucociliary clearance. It is often accompanied by degradation of the bony turbinates, and the foul-smelling mucus which forms a greenish crust (ozena).|MONDO|N|
C0035460|Inflammation in the nasal cavity mucosa that results from the abnormal regulation of the blood flow in the nose. It may be caused by temperature fluctuations, air pollution, strong odors, and tobacco smoke. It results in chronic nasal congestion, sneezing, and running nose.|NCI|N|
C0035466|Progressive enlargement of the nose due to hypertrophy of the sebaceous glands of the tip of the nose and fibrosis. It usually affects older men and is associated with long-standing acne rosacea. It presents as a pink lobulated mass with dilated vessels in the nose.|NCI|N|
C0035468|A granulomatous disease caused by klebsiella rhinoscleromatis infection. Despite its name, this disease is not limited to the nose and nasopharynx but may affect any part of the respiratory tract, sometimes with extension to the lip and the skin.|MONDO|N|
C0035469|Chronic, localized granulomatous infection of mucocutaneous tissues, especially the nose, and characterized by hyperplasia and the development of polyps. It is found in humans and other animals and is caused by the mesomycetozoean organism rhinosporidium seeberi.|MONDO|N|
C0035508|Abnormal breath sounds characterized by low-pitched, snoring or rattle-like sounds.|HPO|N|
C0035522|A partial or complete breakage of the rib.|HPO|N|
C0035528|The concentration of vitamin B2 in the blood circulation is below the lower limit of normal.|HPO|N|
C0035579|Rickets is divided into two major categories including calcipenic and phosphopenic. Hypophosphatemia is described as a common manifestation of both categories. Hypophosphatemic rickets is the most common type of rickets that is characterized by low levels of serum phosphate, resistance to ultraviolet radiation or vitamin D intake. There are several issues involved in hypophosphatemic rickets such as calcium, vitamin D, phosphorus deficiencies. Moreover, other disorder can be associated with its occurrence such as absorption defects due to pancreatic, intestinal, gastric, and renal disorders and hepatobiliary disease. Symptoms are usually seen in childhood and can be varied in severity. Severe forms may be linked to bowing of the legs, poor bone growth, and short stature as well as joint and bone pain. Hypophosphatemic rickets are associated with renal excretion of phosphate, hypophosphatemia, and mineral defects in bones. The familial type of the disease is the most common type of rickets.|HPO|N|
C0035585|A group of infectious diseases that is caused by Rickettsia.|NCI|N|
C0035592|Infections with bacteria of the family RICKETTSIACEAE.|MSH|N|
C0035597|A rare, acquired, self-limiting, infectious disease due to the mite-borne bacteria <i>Rickettsia akari</i> characterized by an asymptomatic, 0.5 to 2 cm in diameter papulovesicle that typically ulcerates and forms an eschar, followed by a generalized papulovesicular rash associating variable constitutional symptoms, such as localized lymphadenopathy, fever, malaise, and headaches. Additonal symptoms may include diaphoresis, myalgia and, less frequently, rhinorrhea, pharyngitis, nausea, vomiting, splenomegaly, conjunctival hyperemia, and abdominal pain. Systemic symptoms resolve within 6-10 days.|ORDO|N|
C0035613|Rift Valley fever (RVF), caused by the Rift Valley fever virus (RVFV), is an arbovirus characterized by a usually self-limiting febrile illness but that in some cases can also manifest with thrombosis, vision loss, hemorrhages and/or neurological symptoms.|ORDO|N|
C0035615|Aorta descends on right instead of on the left.|HPO|N|
C0035619|An obstruction to the forward flow of blood in the outflow tract of the right ventricle.|HPO|N|
C0035624|Muscular rigidity which develops in the cadaver usually from 4 to 10 hours after death and lasts 3 or 4 days.|MSH|N|
C0035637|A viral disease of cloven-hoofed animals caused by MORBILLIVIRUS. It may be acute, subacute, or chronic with the major lesions characterized by inflammation and ulceration of the entire digestive tract. The disease was declared successfully eradicated worldwide in 2010.|MSH|N|
C0035639|An aberrant chromosome where the arms have fused to form a ring.|NCI|N|
C0035648|Any aspect of an individual''s life, behavior, an environmental exposure, or an inborn or inherited characteristic that increases the likelihood of a disease, condition or injury.|NCI|N|
C0035651|Engaging in dangerous, risky, and potentially self-damaging activities, without considering the consequences, is a sign of recklessness. It involves a disregard for one's limitations and a denial of personal danger.|HPO|N|
C0035690|Diseases caused by RNA VIRUSES.|MSH|N|
C0035793|A rare, acquired, life-threatening, infectious disease due to the tick-borne bacteria <i>Rickettsia rickettsii</i> characterized by an acute onset of fever, malaise, and severe headache, variably accompanied by myalgia, anorexia, nausea, vomiting, abdominal pain, and photophobia, associating (2-5 days after fever onset) a typically erythematous, blanching or non-blanching, maculopapluar rash with petechiae, starting on the wrists and ankles and progressing centrifugally to the palms and soles and centripetally to the arms, legs and trunk. Additonal variable features may include conjunctivitis, mucosal ulcers, post-inflammatory hyperpigmentation, jaundice, pneumonia, hepatomegaly, renal failure, meningismus, amnesia, optic disc edema, and ocular arterial occlusion.|ORDO|N|
C0035801|Diseases of rodents of the order RODENTIA. This term includes diseases of Sciuridae (squirrels), Geomyidae (gophers), Heteromyidae (pouched mice), Castoridae (beavers), Cricetidae (rats and mice), Muridae (Old World rats and mice), Erethizontidae (porcupines), and Caviidae (guinea pigs).|MSH|N|
C0035851|Resorption in which cementum or dentin is lost from the root of a tooth owing to cementoclastic or osteoclastic activity in conditions such as trauma of occlusion or neoplasms. (Dorland, 27th ed)|MONDO|N|
C0035854|A chronic erythematous skin disorder that affects the face. It is characterized by the development of redness in the cheeks, nose, and/or forehead and telangiectasia. Sometimes, the erythematous changes may involve the eyelids.|NCI|N|
C0035863|A halo or spoke-wheel arrangement of cells surrounding a central core or hub. The central hub may consist of an empty-appearing lumen or a space filled with cytoplasmic processes. The cytoplasm of each of the cells in the rosette is often wedge-shaped with the apex directed toward the central core; the nuclei of the cells participating in the rosette are peripherally positioned and form a ring or halo around the hub.|HPO|N|
C0035869|Infection with any of the rotaviruses. Specific infections include human infantile diarrhea, neonatal calf diarrhea, and epidemic diarrhea of infant mice.|MONDO|N|
C0035920|A viral infection caused by the rubella virus. It is initially manifested with flu-like symptoms that last one or two days, followed by the development of a characteristic red rash which lasts from one to five days. The rash first appears in the neck and face. It subsequently spreads to the rest of the body.|NCI|N|
C0035921|A condition, whose clinical manifestations include intrauterine growth restriction, petechial rash, jaundice, generalized lymphadenopathy, hepatosplenomegaly, peripheral pulmonary stenosis, cataracts, and sensorineural deafness, that is caused by fetal exposure to the rubella virus during the first trimester of pregnancy.|NCI|N|
C0035934|Rubinstein-Taybi syndrome (RSTS) is characterized by distinctive facial features, broad and often angulated thumbs and halluces, short stature, and moderate-to-severe intellectual disability. The characteristic craniofacial features are downslanted palpebral fissures, low-hanging columella, high palate, grimacing smile, and talon cusps. Prenatal growth is often normal, then height, weight, and head circumference percentiles rapidly drop in the first few months of life. Short stature is typical in adulthood. Obesity may develop in childhood or adolescence. Average IQ ranges between 35 and 50; however, developmental outcome varies considerably. Some individuals with EP300-RSTS have normal intellect. Additional features include ocular abnormalities, hearing loss, respiratory difficulties, congenital heart defects, renal abnormalities, cryptorchidism, feeding problems, recurrent infections, and severe constipation.|GeneReviews|N|
C0035956|Tear or break of an organ, vessel or other soft part of the body, occurring in the absence of external force.|MSH|N|
C0036019|An abrupt voluntary shift in ocular fixation from one point to another, as occurs in reading.|MSH|N|
C0036039|A condition in which there is a derivation of pleasure from inflicting pain, discomfort or humiliation on another person or persons. The sexual significance of sadistic wishes or behavior may be conscious or unconscious.|MSH|N|
C0036069|Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013).
There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, 218330).
For a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 (208500).|OMIM|N|
C0036089|Presence of small calculi in the terminal salivary ducts (salivary sand), or stones (larger calculi) found in the larger ducts.|MONDO|N|
C0036091|A concretion in the salivary gland.|MONDO|N|
C0036093|A non-neoplastic or neoplastic (benign or malignant) disorder involving a salivary gland.|NCI|N|
C0036094|An abnormal communication between a salivary gland and another organ or anatomic site.|NCI|N|
C0036095|A tumor (abnormal growth of tissue) of a salivary gland.|HPO|N|
C0036114|An intestinal bacterial disease caused by Salmonella bacteria.|NCI|N|
C0036117|Rare form of salmonellosis is a group of rare invasive salmonellosis that includes infection with <i>Salmonella enterica</i> typhoidal species (<i>S.</i> typhi and <i>S.</i> paratyphi) that results in enteric fever, and infection by invasive non-typhoidal species (typically strains of <i>S.</i> typhimurium and <i>S.</i> enteritidis) which have a high burden amongst immunocompromised or malnourished individuals, and results in bacteriemia, systemic febrile disease, and variable manifestations including lower respiratory tract infection and splenomegaly.|ORDO|N|
C0036118|Infections in animals with bacteria of the genus SALMONELLA.|MSH|N|
C0036130|An inflammation of the fallopian tube.|HPO|N|
C0036133|Inflammation of the fallopian tubes and ovaries.|NCI|N|
C0036161|Sandhoff disease comprises a phenotypic continuum encompassing acute infantile, subacute juvenile, and late-onset disease. Although classification into these phenotypes is somewhat arbitrary, it is helpful in understanding the variation observed in the timing of disease onset, presenting manifestations, rate of progression, and life span. Acute infantile Sandhoff disease (onset age <6 months). Infants are generally normal at birth followed by progressive weakness and slowing of developmental progress, then developmental regression and severe neurologic impairment. Seizures are common. Death usually occurs between ages two and three years. Subacute juvenile Sandhoff disease (onset age 2-5 years). After attaining normal developmental milestones, developmental progress slows, followed by developmental regression and neurologic impairment (abnormal gait, dysarthria, and cognitive decline). Death (usually from aspiration) typically occurs in the early to late teens. Late-onset Sandhoff disease (onset older teen years or young adulthood). Nearly normal psychomotor development is followed by a range of neurologic findings (e.g., weakness, spasticity, dysarthria, and deficits in cerebellar function) and psychiatric findings (e.g., deficits in executive function and memory). Life expectancy is not necessarily decreased.|GeneReviews|N|
C0036202|A rare multisystemic, autoinflammatory disorder of unknown etiology characterized by the formation of immune, non-caseating granulomas in any organ(s), leading to variable clinical symptoms and severity. Clinical presentation is typically with persistent dry cough, eye or skin manifestations, peripheral lymph nodes, fatigue, weight loss, fever or night sweats, and Löfgren syndrome.|ORDO|N|
C0036203|Formation of non-necrotizing granulomas in the skin. It may be a manifestation of systemic sarcoidosis or may also arise in isolation.|NCI|N|
C0036205|Sarcoidosis affecting the lung parenchyma. It is characterized by the presence of non-necrotizing granulomas in the lung tissues. It is manifested with dyspnea, cough, fever, night sweats, fatigue, and weight loss.|NCI|N|
C0036210|A primary or metastatic malignant neoplasm that affects muscles and bones.|NCI|N|
C0036211|An experimental sarcoma of mice.|MSH|N|
C0036213|An experimental sarcoma of mice.|MSH|N|
C0036216|Experimentally induced neoplasms of CONNECTIVE TISSUE in animals to provide a model for studying human SARCOMA.|MSH|N|
C0036220|Kaposi sarcoma (KS) is an invasive angioproliferative inflammatory condition that occurs commonly in men infected with human immunodeficiency virus (HIV; see 609423). In the early stages of KS, lesions appear reactive and are stimulated to grow by the actions of inflammatory cytokines and growth factors. In the late stages of KS, a malignant phenotype that appears to be monoclonal can develop. Infection with human herpesvirus-8 (HHV-8), also known as KS-associated herpesvirus (KSHV), is necessary but not sufficient for KS development. Coinfection with HIV markedly increases the likelihood of KS development, and additional environmental, hormonal, and genetic cofactors likely contribute to its pathogenesis (summary by Foster et al., 2000).
Suthaus et al. (2012) noted that HHV-8 is the etiologic agent not only of KS, but also of primary effusion lymphoma and plasma cell-type multicentric Castleman disease (MCD).|OMIM|N|
C0036221|Mast cell sarcoma is a rare, neoplastic disease characterized by locally destructive sarcoma-like growth of a solitary mass, composed of atypical mast cells, and without systemic involvement. It can affect any organ and the symptoms depend on the location. Cells are medium to large, pleomorphic or epithelioid, with oval, bilobed or multilobulated nuclei, sometimes prominent multinucleated giant cells. The disease closely resembles other neoplasms and may share associated markers, however the tumor is positive for mast cell tryptase.|ORDO|N|
C0036224|An experimental sarcoma of rats.|MSH|N|
C0036231|A rare parasitic disease characterized by infection with sarcocystis species with humans as definitive (intestinal sarcocystosis) or aberrant intermediate (muscular sarcocystosis with development of sarcocysts in myocytes of skeletal, cardiac, and smooth muscle) host. Enteric infection is often mild or asymptomatic but may cause symptomatic enteritis with nausea, abdominal pain, diarrhea, and vomiting. Symptoms of muscular sarcocystosis include fever, fatigue, headache, cough, myalgia, and arthralgia, among others, with the possibility of a long-lasting, waxing and waning course.|ORDO|N|
C0036262|A contagious skin infection that is caused by the burrowing parasitic mite, Sarcoptes scabiei, and is characterized by intense itching and small, raised red spots in the area of the mite burrows.|NCI|N|
C0036271|Dermotosis of scalp|MONDO|N|
C0036285|A streptococcal infection, mainly occurring among children, that is characterized by a red skin rash, sore throat, and fever.|NCI|N|
C0036310|Scheuermann disease is characterized by lumbar or thoracic kyphosis or both, back pain, and a variety of vertebral changes including wedging, endplate irregularity, narrowing of disc spaces, Schmorl nodes, and detached epiphyseal rings. It is reported to occur more frequently in boys than in girls (summary by McKenzie and Sillence, 1992).|OMIM|N|
C0036323|A parasitic infection caused by flukes of the genus Schistosoma. Signs and symptoms include fever, abdominal pain, eosinophilia and hepatosplenomegaly. If left untreated it may eventually cause liver damage leading to cirrhosis, bladder cancer and kidney failure.|NCI|N|
C0036329|An infection that is caused by Schistosoma japonicum.|NCI|N|
C0036330|An infection that is caused by Schistosoma mansoni.|NCI|N|
C0036337|A disorder in which the individual suffers from both symptoms that qualify as schizophrenia and symptoms that qualify as a mood disorder (e.g., depression or bipolar disorder) for a substantial portion (but not all) of the active period of the illness; for the remainder of the active period of the illness, the individual suffers from delusions or hallucinations in the absence of prominent mood symptoms.|NCI|N|
C0036339|A disorder characterized by an enduring pattern of extreme social detachment and lack of involvement in interpersonal activities, coupled with emotional coldness.|NCI|N|
C0036341|Schizophrenia is highly heritable, as shown by family, twin, and adoption studies. For example, for identical twins, if one twin develops schizophrenia, the other twin has about a 50% chance of also developing the disease. The risk of the general population developing the schizophrenia is about 0.3-0.7% worldwide. The search for “schizophrenia genes” has been elusive. Initial linkage studies looked at parts of the genome associated with schizophrenia, and many candidate genes were identified, including APOE, COMT, DAO, DRD1, DRD2, DRD4, DTNBP1, GABRB2, GRIN2B, HP, IL1B, MTHFR, PLXNA2, SLC6A4, TP53, and TPH1. However, some of these have later been questioned. Microdeletions and microduplications have been found to be three times more common in individuals with schizophrenia, compared to controls. Because these deletions and duplications are in genes that are overexpressed in pathways related to brain development, it is possible that the inheritance of multiple rare variants may contribute to the development of schizophrenia. Several genetic disorders feature schizophrenia as a clinical feature. The 22q11.2 Deletion Syndrome comprises many different syndromes, of which one of the most serious is DiGeorge syndrome. Children born with DiGeorge syndrome typically have heart defects, cleft palate, learning difficulties, and immune deficiency. Schizophrenia is a late manifestation, affecting around 30% of individuals. Microdeletions and duplications in chromosome 1, 2, 3, 7, 15 and 16 have also been associated with schizophrenia. In 2014, a genome-wide association study looked at the genomes of over 35,000 patients and 110,00 controls. The study identified 108 SNPs that were associated with schizophrenia, 83 of which had not been previously reported. As expected, many of these loci occurred in genes that are expressed in the brain. For example, the SNPs included a gene that encodes the dopamine D2 receptor, DRD2 (the target of antipsychotic drugs), and many genes involved in glutamine neurotransmitter pathways and synaptic plasticity (e.g., GRM3, GRIN2A, SRR, GRIA1). More surprisingly, however, associations were also enriched among genes expressed in tissues with important immune functions. In 2016, a study based on nearly 65,000 people investigated the association between schizophrenia and variation in the Major Histocompatibility Complex (MHC) locus—a region on chromosome 6 that is important for immune function. The study focused on the C4 gene (complement component 4) that exists as two distinct genes: C4A and C4B, which encode particularly structurally diverse alleles. The study found that the alleles which promoted greater expression of C4A in the brain were associated with a greater risk of schizophrenia. By using mice models, the study showed that C4 is involved in the elimination of synapses during brain maturation. In humans, “synaptic pruning” is most active during late adolescence, which coincides with the typical onset of symptoms of schizophrenia. It is therefore possible that the inheritance of specific C4A alleles could lead to “run away” synaptic pruning, increasing the risk of schizophrenia. Further research may even determine C4 as a potential therapeutic target.|Medical Genetics Summaries|N|
C0036344|A subtype of schizophrenia characterized by a psychomotor disturbance that may involve motoric immobility, excessive motor activity, extreme negativism or mutism, peculiarities of voluntary movement, echolalia, and/or echopraxia.|NCI|N|
C0036346|Schizophrenia occurring in childhood.|NCI|N|
C0036347|A subtype of schizophrenia characterized by disorganized speech, disorganized behavior, and a flat or inappropriate affect; associated features include grimacing, mannerisms, and other oddities of behavior. Criteria for the catatonic type of schizophrenia are not met.|NCI|N|
C0036349|A subtype of schizophrenia characterized by prominent delusions (typically persecutory or grandiose) or hallucinations in the context of a relative preservation of cognitive functioning and affect.|NCI|N|
C0036351|A subtype of schizophrenia in which the individual has suffered an episode of schizophrenia but there are no longer any delusions, hallucinations, disorganized speech or behavior. Residual symptoms are seen in the form of negative symptoms (such as flat affect or avolition) or attenuated positive symptoms (such as odd beliefs).|NCI|N|
C0036356|The artificial language of schizophrenic patients - neologisms (words of the patient''s own making with new meanings).|MSH|N|
C0036358|A disorder that differs from schizophrenia specifically in total duration (schizophreniform disorder lasts at least 1 month but less than 6 months whereas schizophrenia lasts at least 6 months); schizophreniform disorder also typically causes less impairment in the individual''s social and occupational functioning.|NCI|N|
C0036363|A disorder characterized by an enduring pattern of inability to establish close relationships coupled with cognitive or perceptual distortions, odd beliefs and speech, and eccentric behavior and appearance.|NCI|N|
C0036391|A rare, genetic neuromuscular disease characterized by permanent myotonia, mask-like facies (with blepharospasm, narrow palpebral fissures, small mouth with pursed lips and puckered chin) , and chondrodysplasia (variably manifesting with short stature, pectus carinatum, kyphoscoliosis, bowing of long bones, epiphyseal, metaphyseal, and hip dysplasia).|ORDO|N|
C0036396|Pain in the lower back and hip radiating in the distribution of the sciatic nerve.|HPO|N|
C0036400|Right pulmonary venous return to the inferior vena cava.|HPO|N|
C0036412|A disorder affecting the sclera. Examples include inflammatory processes (e.g., scleritis and episcleritis), and degenerative processes. Primary tumors of the sclera are extremely rare.|NCI|N|
C0036413|Hard non pitting edema and induration of the skin; a finding associated with Buschke''s disease.|SNOMEDCT_US|N|
C0036415|A diffuse hardening of skin and subcutaneous adipose tissue, associated with minimal inflammation without fat necrosis, that typically affects critically ill preterm neonates during the first week of life.|NCI|N|
C0036416|Inflammation of the sclera.|HPO|N|
C0036420|Localized scleroderma is the skin localized form of scleroderma (see this term) characterized by fibrosis of the skin causing cutaneous plaques or strips.|ORDO|N|
C0036421|Systemic sclerosis (SSc) is a generalized disorder of small arteries, microvessels and connective tissue, characterized by fibrosis and vascular obliteration in the skin and organs, particularly the lungs, heart, and digestive tract. There are two main subsets of SSc: diffuse cutaneous SSc (dcSSc) and limited cutaneous SSc (lcSSc) (see these terms). A third subset of SSc has also been observed, called limited Systemic Sclerosis (lSSc) or systemic sclerosis sine scleroderma (see these terms).|ORDO|N|
C0036429|A pathological hardening or thickening of tissue, especially that of the interstitial substance.|NCI|N|
C0036439|The presence of an abnormal lateral curvature of the spine.|HPO|N|
C0036454|A regional and pathological increase of the light detection threshold in any region of the visual field surrounded by a field of normal or relatively well-preserved vision.|HPO|N|
C0036457|A fatal disease of the nervous system in sheep and goats, characterized by pruritus, debility, and locomotor incoordination. It is caused by proteinaceous infectious particles called prions.|MONDO|N|
C0036465|Infection with larvae of the blow fly Cochliomyia hominivorax (Callitroga americanum), a common cause of disease in livestock in the southern and southwestern U.S.A.|MSH|N|
C0036472|Scrub typhus is a rare dust mite-borne infectious disease caused by the <i>Orientia tsutsugamushi</i> bacterium and characterized clinically by an eruptive fever which is potentially serious.|ORDO|N|
C0036474|Abnormally low concentrations of vitamin C in the blood.|NCI|N|
C0036489|An abnormality of histiocytes, in which the cells take on a sea blue appearance due to abnormally increased lipid content. Histiocytes are a type of macrophage. Sea-blue histiocytes are typically large macrophages from 20 to 60 micrometers in diameter with a single eccentric nucleus whose cytoplasm if packed with sea-blue or blue-green granules when stained with Wright-Giemsa.|HPO|N|
C0036494|A sensation of discomfort associated with travel over water, which may include nausea, vomiting, dizziness, or sweating.|NCI|N|
C0036502|A disease involving the sebaceous gland.|MONDO|N|
C0036503|A benign or malignant neoplasm that arises from the sebaceous glands. Representative examples include sebaceous adenoma and sebaceous carcinoma.|NCI|N|
C0036508|Seborrheic dermatitis is a form of eczema which is closely related to dandruff. It causes dry or greasy peeling of the scalp, eyebrows, and face, and sometimes trunk.|HPO|N|
C0036522|A non-proteinaceous signaling molecule that is generated by intracellular enzymes that respond to the binding of extracellular ligands to cell surface receptors. These compounds serve as intermediate signals for a diverse set of cellular processes.|NCI|N|
C0036572|A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.|HPO|N|
C0036601|Deliberate harm to one's body resulting in tissue damage, without a conscious intent to die.|HPO|N|
C0036631|A radiosensitive malignant germ cell tumor found in the testis (especially undescended), and extragonadal sites (anterior mediastinum and pineal gland). It is characterized by the presence of uniform cells with clear or dense cytoplasm which contains glycogen, and by a large nucleus which contains one or more nucleoli. The neoplastic germ cells form aggregates separated by fibrous septa. The fibrous septa contain chronic inflammatory cells, mainly lymphocytes.|NCI|N|
C0036646|A type of cataract (opacification of the lens) that forms during the course of aging.|HPO|N|
C0036651|Benign, pigmented spots on the skin that are associated with aging and exposure to ultraviolet radiation from the sun. The spots are found on areas of the body that are most often exposed to the sun; including the hands, face, shoulders, arms, forehead, and scalp. In some cases, this condition may mimic melanoma.|NCI|N|
C0036659|Disorders of the special senses (i.e., VISION; HEARING; TASTE; and SMELL) or somatosensory system (i.e., afferent components of the PERIPHERAL NERVOUS SYSTEM).|MSH|N|
C0036674|The absence or restriction of the usual external sensory stimuli to which the individual responds.|MSH|N|
C0036689|Inflammation of the throat due to Streptococcus pyogenes.|NCI|N|
C0036690|Systemic inflammatory response to infection.|HPO|N|
C0036749|Inflammation in any serous cavity.|HPO|N|
C0036769|A sex cord-stromal tumor of the testis or the ovary. It is characterized by the presence of Sertoli cells forming tubules. Leydig cells are rare or absent. It may be associated with Peutz-Jeghers syndrome. In males, the presenting symptom is a slow growing testicular mass. Most cases follow a benign clinical course. In females it may present with estrogenic or androgenic manifestations. The vast majority of cases have a benign clinical course.|NCI|N|
C0036830|Delayed-type hypersensitivity reaction to foreign proteins derived from an animal serum. It occurs approximately six to twenty one days following the administration of the foreign antigen. Symptoms include fever, arthralgias, myalgias, skin eruptions, lymphadenopathy, chest pain, and dyspnea. Certain drugs (e.g., antibiotics, anticancer agents, and anti-inflammatory medications) and infectious disorders (e.g., hepatitis B) may also cause serum sickness-like reaction.|NCI|N|
C0036850|Infection with nematodes of the genus Setaria. This condition is usually seen in cattle and equines and is of little pathogenic significance, although migration of the worm to the eye may lead to blindness.|MONDO|N|
C0036857|Severe mental retardation is defined as an intelligence quotient (IQ) in the range of 20-34.|HPO|N|
C0036868|48,XXYY syndrome is a chromosomal condition that affects development in people who are assigned male at birth. There is a lot of variability in symptoms between people with 48,XXYY syndrome. Almost all affected individuals have developmental delays in infancy and develop decreased testosterone levels (hypogonadism) during adolescence. People with 48,XXYY syndrome are also at risk for other health problems.\n\n Adolescents and adults with this condition usually have small testes that do not produce enough testosterone, which is the hormone that directs male sexual development. Without treatment, a shortage of testosterone during puberty can lead to reduced facial and body hair, poor muscle development, low energy levels, and an increased risk of breast enlargement (gynecomastia). Because their testes do not function normally, individuals with 48,XXYY syndrome have difficulty having biological children (a condition called infertility), but they may be able to have children using assisted reproductive technologies. \n\n48,XXYY syndrome can affect other parts of the body as well. Affected individuals are often taller than their peers, with an average adult height of 6 feet, 4 inches (193 cm). They may develop a mild to moderate hand tremor that typically starts in adolescence and may increase with age. Dental problems are frequently seen in people with this condition,  including delayed appearance of the primary (baby) or secondary (adult) teeth, thin tooth enamel, crowded or misaligned teeth, and multiple cavities. \n\nAdditionally, individuals with 48,XXYY syndrome may have flat feet (pes planus), elbow abnormalities, abnormal fusion of certain bones in the forearm (radioulnar synostosis), allergies, asthma, type 2 diabetes, seizures, congenital heart defects, and an inflammatory condition in the throat (esophagus) called eosinophilic esophagitis. As people with 48,XXYY get older, they may develop a narrowing of the blood vessels in the legs called peripheral vascular disease. Peripheral vascular disease can cause skin ulcers to form. Affected individuals are also at risk of developing a type of clot called a deep vein thrombosis that occurs in the deep veins of the legs. \n\nMost individuals with 48,XXYY syndrome have an IQ score that ranges from 60 to 80 and have some degree of difficulty with speech and language development. The development of motor skills such as sitting, standing, and walking may be delayed in some children with 48,XXYY syndrome. They may also have poor coordination. Learning disabilities are very common in people with this disorder, especially in the areas of reading and written expression. People with 48,XXYY typically perform better at tasks focused on math, visual-spatial skills such as puzzles, and memorization of locations or directions. Affected individuals have higher-than-average rates of other neurodevelopmental and behavioral disorders, such as attention-deficit/hyperactivity disorder (ADHD); mood disorders, including anxiety and depression; and autism spectrum disorder, which affects communication and social interaction.|MedlinePlus Genetics|N|
C0036875|In gonochoristic organisms, congenital conditions in which development of chromosomal, gonadal, or anatomical sex is atypical. Effects from exposure to abnormal levels of GONADAL HORMONES in the maternal environment, or disruption of the function of those hormones by ENDOCRINE DISRUPTORS are included.|MSH|N|
C0036888|Any violation of established legal or moral codes in respect to sexual behavior.|MSH|N|
C0036903|A disorder characterized by recurrent or persistent extreme aversion to, and avoidance of, all genital contact with a sexual partner. The aversion to sexual contact is not attributable to another psychiatric disorder.|NCI|N|
C0036908|A disorder characterized by recurrent sexual urges, fantasies, or behaviors involving the act (real, not simulated) of being humiliated, beaten, bound, or otherwise made to suffer.|NCI|N|
C0036913|A disorder characterized by recurrent sexual urges, fantasies, or behaviors involving acts (real, not simulated) in which the psychological or physical suffering of a victim is sexually exciting to the individual.|NCI|N|
C0036916|A disorder acquired through sexual contact.|NCI|N|
C0036917|Bacterial diseases that are potentially transmitted or propagated by sexual conduct.|MONDO|N|
C0036918|Viral diseases which are potentially transmitted or propagated by sexual conduct.|MONDO|N|
C0036920|Sézary syndrome is an aggressive form of a type of blood cancer called cutaneous T-cell lymphoma. Cutaneous T-cell lymphomas occur when certain white blood cells, called T cells, become cancerous; these cancers characteristically affect the skin, causing different types of skin lesions. In Sézary syndrome, the cancerous T cells, called Sézary cells, are present in the blood, skin, and lymph nodes. A characteristic of Sézary cells is an abnormally shaped nucleus, described as cerebriform.\n\nPeople with Sézary syndrome develop a red, severely itchy rash (erythroderma) that covers large portions of their body. Sézary cells are found in the rash. However, the skin cells themselves are not cancerous; the skin problems result when Sézary cells move from the blood into the skin. People with Sézary syndrome also have enlarged lymph nodes (lymphadenopathy). Other common signs and symptoms of this condition include hair loss (alopecia), skin swelling (edema), thickened skin on the palms of the hands and soles of the feet (palmoplantar keratoderma), abnormalities of the fingernails and toenails, and lower eyelids that turn outward (ectropion). Some people with Sézary syndrome are less able to control their body temperature than people without the condition.\n\nThe cancerous T cells can spread to other organs in the body, including the lymph nodes, liver, spleen, and bone marrow. In addition, affected individuals have an increased risk of developing another lymphoma or other type of cancer.\n\nSézary syndrome most often occurs in adults over age 60 and usually progresses rapidly; historically, affected individuals survived an average of 2 to 4 years after development of the condition, although survival has improved with newer treatments.\n\nAlthough Sézary syndrome is sometimes referred to as a variant of another cutaneous T-cell lymphoma called mycosis fungoides, these two cancers are generally considered separate conditions.|MedlinePlus Genetics|N|
C0036939|A disorder in which a delusion develops in an individual in the context of close relationship with another person who already has that established delusion, most likely as the consequence of schizophrenia or delusional disorder.|NCI|N|
C0036946|Diseases of domestic and mountain sheep of the genus Ovis.|MSH|N|
C0036969|Bovine respiratory disease found in animals that have been shipped or exposed to cattle recently transported. The major agent responsible for the disease is mannheimia haemolytica and less commonly, pasteurella multocida or haemophilus somnus. All three agents are normal inhabitants of the bovine nasal pharyngeal mucosa but not the lung. They are considered opportunistic pathogens following stress, physiological and/or a viral infection. The resulting bacterial fibrinous bronchopneumonia is often fatal.|MONDO|N|
C0036973|Involuntary contraction or twitching of the muscles.|HPO|N|
C0036974|The state in which profound and widespread reduction of effective tissue perfusion leads first to reversible, and then if prolonged, to irreversible cellular injury.|HPO|N|
C0036980|Severely decreased cardiac output with evidence of inadequate end-organ perfusion (i.e., tissue hypoxia) in the presence of adequate intravascular volume.|HPO|N|
C0036982|Hypoperfusion of body tissues due to acute blood loss, resulting in cellular injury and vital organ dysfunction.|NCI|N|
C0036983|A state of acute circulatory failure characterized by persistent arterial hypotension despite adequate fluid resuscitation or by tissue hypoperfusion unexplained by other causes.|NCI|N|
C0036984|Hypoperfusion of body tissues occurring during or after a surgical procedure, and resulting in cellular injury and vital organ dysfunction.|NCI|N|
C0036986|Any shock produced by trauma.|NCI|N|
C0036992|An intestinal failure due to either a congenital defect, intestinal infarction or extensive surgical resection of the intestinal tract that results in a functional small intestine of less than 200cm in length and is characterized by diarrhea, nutrient malabsorption, bowel dilation and dysmobility.|SNOMEDCT_US|N|
C0036996|A group of bone malformations characterized by a narrow thorax and polydactyly (usually preaxial).|ORDO|N|
C0037005|A displacement or misalignment of the humerus with respect to the other bones of the should joint. Note that a subluxation is a partial dislocation.|HPO|N|
C0037006|A fracture or multiple fractures of the humerus (ball) or the glenoid (socket) of the shoulder joint.|HPO|N|
C0037011|An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the shoulder.|HPO|N|
C0037018|Hemorrhagic necrosis that was first demonstrated in rabbits with a two-step reaction, an initial local (intradermal) or general (intravenous) injection of a priming endotoxin (endotoxins) followed by a second intravenous endotoxin injection (provoking agent) 24 h later. The acute inflammation damages the small blood vessels. The following intravascular coagulation leads to capillary and venous thrombosis and necrosis. Shwartzman phenomenon can also occur in other species with a single injection of a provoking agent, and during infections or pregnancy. Its susceptibility depends on the status of immune system, coagulation, fibrinolysis, and blood flow.|MONDO|N|
C0037019|A progressive neurodegenerative condition of the central and autonomic nervous systems characterized by atrophy of the preganglionic lateral horn neurons of the thoracic spinal cord. This disease is generally considered a clinical variant of MULTIPLE SYSTEM ATROPHY. Affected individuals present in the fifth or sixth decade with ORTHOSTASIS and bladder dysfunction; and later develop FECAL INCONTINENCE; anhidrosis; ATAXIA; IMPOTENCE; and alterations of tone suggestive of basal ganglia dysfunction. (From Adams et al., Principles of Neurology, 6th ed, p536)|MSH|N|
C0037020|Atypically high degree of awkwardness or apprehension experienced when approaching or being approached by others.|HPO|N|
C0037023|Inflammation of a salivary gland.|HPO|N|
C0037033|A benign, inflammatory, variably ulcerated, occasionally bilateral, self-healing lesion of the minor salivary glands that is often confused clinically and histologically with carcinoma.|MONDO|N|
C0037036|Excessive production of saliva.|HPO|N|
C0037050|A group of symptoms that are two- to three-fold more common in those who work in large, energy-efficient buildings, associated with an increased frequency of headaches, lethargy, and dry skin. Clinical manifestations include hypersensitivity pneumonitis (alveolitis, extrinsic allergic); allergic rhinitis (rhinitis, allergic, perennial); asthma; infections, skin eruptions, and mucous membrane irritation syndromes. Current usage tends to be less restrictive with regard to the type of building and delineation of complaints. (From Segen, Dictionary of Modern Medicine, 1992)|MONDO|N|
C0037052|An abnormality involving the generation of the action potential by the sinus node and is characterized by an atrial rate inappropriate for physiological requirements. Manifestations include severe sinus bradycardia, sinus pauses or arrest, sinus node exit block, chronic atrial tachyarrhythmias, alternating periods of atrial bradyarrhythmias and tachyarrhythmias, and inappropriate responses of heart rate during exercise or stress.|HPO|N|
C0037054|An individual who is heterozygous for the mutation that causes sickle cell anemia.|NCI|N|
C0037061|A form of pneumoconiosis resulting from inhalation of iron in the mining dust or welding fumes.|MSH|N|
C0037072|Pathological processes in the sigmoid colon region of the large intestine (intestine, large).|MONDO|N|
C0037073|Tumors or cancer of the sigmoid colon.|MONDO|N|
C0037088|Clinical, laboratory or molecular evidence, or absence of evidence of disease.|NCI|N|
C0037089|Signs and symptoms associated with disturbances within the digestive system, which includes the stomach, intestines and all associated organs that aid in digestion.|NCI|N|
C0037090|Respiratory system manifestations of diseases of the respiratory tract or of other organs.|MSH|N|
C0037116|An occupational lung disorder caused by the inhalation of silica dust. It results in the inflammation and scarring of the upper lobes of the lungs. It may be an acute or chronic disorder. In the acute form, patients develop shortness of breath, fever, and cyanosis. In the chronic form patients, develop progressive shortness of breath.|NCI|N|
C0037118|Tuberculosis caused by the infection of Mycobacterium tuberculosis in patients with silicosis (that is caused by inhalation of silica dust particles). The risk of a patient with silicosis developing pulmonary tuberculosis and extra-pulmonary tuberculosis is higher than in healthy population.|MONDO|N|
C0037120|A form of alveolitis or pneumonitis caused by hypersensitivity to high level of inhaled nitrogen oxides, decomposition products of silage.|MONDO|N|
C0037188|Disturbance in the atrial activation that is caused by transient failure of impulse conduction from the sinoatrial node to the cardiac atria.|HPO|N|
C0037198|Formation or presence of a blood clot (thrombus) in the cranial sinuses, large endothelium-lined venous channels situated within the skull. Intracranial sinuses, also called cranial venous sinuses, include the superior sagittal, cavernous, lateral, petrous sinuses, and many others. Cranial sinus thrombosis can lead to severe headache; seizure; and other neurological defects.|MONDO|N|
C0037199|Inflammation of the paranasal sinuses owing to a viral, bacterial, or fungal infection, allergy, or an autoimmune reaction.|HPO|N|
C0037205|A developmental defect in which the legs are fused together.|HPO|N|
C0037221|A left-right reversal (or "mirror reflection") of the anatomical location of the viscera of the abdomen.|HPO|N|
C0037231|Sjogren-Larsson syndrome (SLS) is an autosomal recessive, early childhood-onset disorder characterized by ichthyosis, impaired intellectual development, spastic paraparesis, macular dystrophy, and leukoencephalopathy. It is caused by deficiency of fatty aldehyde dehydrogenase (summary by Lossos et al., 2006).|OMIM|N|
C0037268|An abnormality of the skin.|HPO|N|
C0037272|A disease that involves the cutaneous appendage.|MONDO|N|
C0037274|Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs.|NCI|N|
C0037275|Skin diseases characterized by local or general distributions of blisters. They are classified according to the site and mode of blister formation. Lesions can appear spontaneously or be precipitated by infection, trauma, or sunlight. Etiologies include immunologic and genetic factors. (From Scientific American Medicine, 1990)|MONDO|N|
C0037277|A group of inherited skin disorders that present with multisystem involvement. It includes ichthyosis, epidermolysis bullosa, ectodermal dysplasia, cutis laxa, progeroid conditions, xeroderma pigmentosum, Rothmund Thomson syndrome, and dyskeratosis congenita.|NCI|N|
C0037278|An inflammatory process affecting the skin, caused by bacteria, viruses, parasites, or fungi. Examples of bacterial infection include carbuncles, furuncles, impetigo, erysipelas, and abscesses. Examples of viral infection include shingles, warts, molluscum contagiosum, and pityriasis rosea. Examples of parasitic infection include scabies and lice. Examples of fungal infection include athlete''s foot, yeast infection, and ringworm.|NCI|N|
C0037279|Diseases of the skin associated with underlying metabolic disorders.|MSH|N|
C0037280|Skin diseases caused by ARTHROPODS; HELMINTHS; or other parasites.|MONDO|N|
C0037284|A localized pathological or traumatic structural change, damage, deformity, or discontinuity of skin.|NCI|N|
C0037285|Dermatologic disorders attendant upon non-dermatologic disease or injury.|MSH|N|
C0037286|A tumor (abnormal growth of tissue) of the skin.|HPO|N|
C0037287|Morphologically similar to a papule, but greater than either 10mm in both width and depth, and most frequently centered in the dermis or subcutaneous fat.|HPO|N|
C0037293|Cutaneous skin tags also known as acrochorda or fibroepithelial polyps are small benign tumors that may either form secondarily over time primarily in areas where the skin forms creases, such as the neck, armpit or groin or may also be present at birth, in which case they usually occur in the periauricular region.|HPO|N|
C0037299|A discontinuity of the skin exhibiting complete loss of the epidermis and often portions of the dermis and even subcutaneous fat.|HPO|N|
C0037301|The presence of an increased degree of wrinkling (irregular folds and indentations) of the skin as compared with age-related norms.|HPO|N|
C0037304|A partial or complete breakage of the skull.|HPO|N|
C0037305|A benign or malignant neoplasm that affects the bones and structures of the skull.|NCI|N|
C0037315|An intermittent cessation of airflow at the mouth and nose during sleep is known as sleep apnea. Apneas that last at least 10 seconds are considered significant, but individuals with sleep apnea may experience apneas lasting from 20 seconds up to 2 or 3 minutes. Patients may have up to 15 events per hour of sleep.|HPO|N|
C0037316|The state of being deprived of sleep under experimental conditions, due to life events, or from a wide variety of pathophysiologic causes such as medication effect, chronic illness, psychiatric illness, or sleep disorder.|MSH|N|
C0037317|An abnormal pattern in the quality, quantity, or characteristics of sleep.|HPO|N|
C0037320|Episodes of intense fear, screaming, and flailing occur even though the affected individuals are still asleep.|HPO|N|
C0037341|Diseases of viral origin, characterized by incubation periods of months to years, insidious onset of clinical manifestations, and protracted clinical course. Though the disease process is protracted, viral multiplication may not be unusually slow. Conventional viruses produce slow virus diseases such as SUBACUTE SCLEROSING PANENCEPHALITIS, progressive multifocal leukoencephalopathy (LEUKOENCEPHALOPATHY, PROGRESSIVE MULTIFOCAL), and AIDS. Diseases produced by unconventional agents were originally considered part of this group. They are now called PRION DISEASES.|MSH|N|
C0037354|A condition that is caused by infection with Variola, and that is characterized by small, raised bumps.|NCI|N|
C0037358|Smallpox that occurs in an individual who has been vaccinated.|NCI|N|
C0037370|Exposure to tobacco smoke products among individuals who do not smoke. This can result from sharing space with a smoker or from placental transfer from mother to fetus.|NCI|N|
C0037383|A sudden violent, spasmodic, audible expiration of breath through the nose and mouth.|HPO|N|
C0037384|Deep, noisy breathing during sleep, accompanied by hoarse or harsh sounds, is caused by the vibration of respiratory structures, especially the soft palate. This vibration results in sound due to obstructed air movement during breathing while sleeping.|HPO|N|
C0037420|Process involving reciprocal response between two or more individuals. This includes the development of cooperation and competition, the influence of status and social roles, and the dynamics of group behavior, leadership, and conformity. Persistent social interaction between specific individuals leads to the formation of social relationships.|MSH|N|
C0037431|Situations affecting a significant number of people, that are believed to be sources of difficulty or threaten the stability of the community, and that require programs of amelioration.|MSH|N|
C0037579|A tumor (abnormal growth of tissue) that arises from the soft tissue. The most common types are lipomatous (fatty), vascular, smooth muscle, fibrous, and fibrohistiocytic neoplasms.|HPO|N|
C0037619|A single, fluid-filled cyst in the breast parenchyma.|NCI|N|
C0037650|A category of psychiatric disorders which are characterized by the presence of physical symptoms that suggest a medical condition but are not fully explained by any known medical reasons.|NCI|N|
C0037661|Somatostatinoma (SSoma) is an extremely rare pancreatic neuroendocrine tumor or duodenal endocrine tumor (see these terms) that originates either in the pancreas (50%) or the gastrointestinal tract (50%) and mainly presents with non-specific symptoms of abdominal pain, weight loss, jaundice and diarrhea but, in approximately 20% of pancreatic cases, leads to a somatostatin hypersecretion syndrome (somatostatinoma syndrome) characterized by diabetes mellitus, cholelithiasis, steatorrhea and hypochlorhydria.|ORDO|N|
C0037672|Ambulation or other complex motor behaviors may occur after getting out of bed in a sleep-like state. During sleepwalking episodes, the individual who is somnambulating appears confused or dazed, with their eyes usually open. They may mumble or give inappropriate answers to questions, and occasionally appear agitated.|HPO|N|
C0037753|A condition resulting from infection with the second stage larvae of the parasite Spirometra.|NCI|N|
C0037763|Sudden and involuntary contractions of one or more muscles.|HPO|N|
C0037769|Developmental and epileptic encephalopathy 1 (DEE1) is a seizure disorder characterized by a type of seizure known as infantile spasms. The spasms usually appear before the age of 1. Several types of spasms have been described, but the most commonly reported type involves bending at the waist and neck and extending the arms and legs (sometimes called a jackknife spasm). Each spasm lasts only seconds, but they occur in clusters several minutes long. Although individuals do not usually have spasms while they are sleeping, the spasms commonly occur just after awakening. Infantile spasms usually stop by age 5, but many children then develop other types of seizures that recur throughout their lives.\n\nMost babies with DEE1 have characteristic results on an electroencephalogram (EEG), a test used to measure the electrical activity of the brain. The EEG of these individuals typically shows an irregular pattern known as hypsarrhythmia, and this finding can help differentiate infantile spasms from other types of seizures.\n\nEarly in life, babies with DEE1 stop developing normally and begin to lose skills they have acquired (developmental regression), such as sitting, rolling over, and babbling. Most affected individuals also have intellectual disability throughout their lives.|MedlinePlus Genetics|N|
C0037771|Mild or moderate loss of motor function accompanied by spasticity in the lower extremities. This condition is a manifestation of CENTRAL NERVOUS SYSTEM DISEASES that cause injury to the motor cortex or descending motor pathways.|MSH|N|
C0037772|Spasticity and weakness of the leg and hip muscles.|HPO|N|
C0037773|A genetically and clinically heterogeneous group of slowly progressive neurological disorders which in the pure form is characterized by pyramidal signs (weakness, spasticity, brisk tendon reflexes, and extensor plantar responses) predominantly affecting the lower limbs and with possible association of sphincter disturbances and deep sensory loss; and in the complex form by the addition of variable neurological or non-neurological features.|ORDO|N|
C0037785|A developmental disorder of mental health that categorizes specific learning disabilities and developmental disorders affecting coordination.|MONDO|N|
C0037822|Abnormalities in the sound of a person's speech or vocalization are not necessarily associated with a known physical cause or due to stuttering or stammering.|HPO|N|
C0037833|Instructional activity designed to teach patients how to vocalize with a non-functioning or absent larynx.|NCI|N|
C0037834|A method of speech used after laryngectomy, with sound produced by vibration of the column of air in the esophagus against the contracting cricopharyngeal sphincter. (Dorland, 27th ed)|MSH|N|
C0037856|Testicular torsion is when the spermatic cord to a testicle twists, cutting off the blood supply. The most common symptom is acute testicular pain.|HPO|N|
C0037859|A cystic structure arising from the epididymis, rete testis or efferent ductuli. These structures are filled with spermatozoa containing fluid that may be milky. These cysts are usually outside the tunica vaginalis and, as with hydrocele, transluminate easily.|HPO|N|
C0037886|An acute or chronic inflammatory process affecting the mucous membrane of the sphenoid sinus.|NCI|N|
C0037889|Hereditary spherocytosis refers to a group of heterogeneous disorders that are characterized by the presence of spherical-shaped erythrocytes (spherocytes) on the peripheral blood smear. The disorders are characterized clinically by anemia, jaundice, and splenomegaly, with variable severity. Common complications include cholelithiasis, hemolytic episodes, and aplastic crises (review by Perrotta et al., 2008).
Elgsaeter et al. (1986) gave an extensive review of the molecular basis of erythrocyte shape with a discussion of the role of spectrin and other proteins such as ankyrin, actin (102630), band 4.1 (130500), and band 3 (109270), all of which is relevant to the understanding of spherocytosis and elliptocytosis (see 611904).
See Delaunay (2007) for a discussion of the molecular basis of hereditary red cell membrane disorders.
Genetic Heterogeneity of Hereditary Spherocytosis
Also see SPH2 (616649), caused by mutation in the SPTB gene (182870) on chromosome 14q23; SPH3 (270970), caused by mutation in the SPTA1 gene (182860) on chromosome 1q21; SPH4 (612653), caused by mutation in the SLC4A1 gene (109270) on chromosome 17q21; and SPH5 (612690), caused by mutation in the EPB42 gene (177070) on chromosome 15q15.|OMIM|N|
C0037899|An inherited metabolic disorder that affects the metabolism of the spinhgolipids. Representative examples include Gaucher disease, Tay-Sachs disease, and Niemann-Pick disease.|NCI|N|
C0037917|A congenital abnormality in which the spinal cord and meninges protrude through a defect in the spinal column. The protrusion is above the skin surface.|MONDO|N|
C0037926|External mechanical compression of the spinal cord.|HPO|N|
C0037928|A non neoplastic or neoplastic disorder that affects the spinal cord.|NCI|N|
C0037930|A neoplasm affecting the spinal cord.|HPO|N|
C0037932|Deformities of the SPINE characterized by abnormal bending or flexure in the vertebral column. They may be bending forward (KYPHOSIS), backward (LORDOSIS), or sideway (SCOLIOSIS).|MSH|N|
C0037933|A disease involving the vertebral column.|MONDO|N|
C0037939|A benign or malignant neoplasm that affects the vertebrae, vertebral canal, and/or spinal cord.|NCI|N|
C0037942|Outgrowth of immature bony processes or bone spurs (OSTEOPHYTE) from the VERTEBRAE, reflecting the presence of degenerative disease and calcification. It commonly occurs in cervical and lumbar SPONDYLOSIS.|MSH|N|
C0037952|A heterogenous group of degenerative syndromes marked by progressive cerebellar dysfunction either in isolation or combined with other neurologic manifestations. Sporadic and inherited subtypes occur. Inheritance patterns include autosomal dominant, autosomal recessive, and X-linked.|MSH|N|
C0037974|Infections with bacteria of the order SPIROCHAETALES.|MONDO|N|
C0037997|A non-neoplastic or neoplastic disorder affecting the spleen. Examples include infection, hemangioma, lymphoma, leukemia and angiosarcoma.|NCI|N|
C0037998|Ischemia and necrosis of part or all of the spleen resulting from compromise of blood supply resulting from arterial or venous occlusion.|HPO|N|
C0037999|A benign or malignant neoplasm that affects the spleen. Representative examples include hemangioma, lymphoma, splenic involvement by leukemia, and angiosarcoma.|NCI|N|
C0038000|A breach of the capsule of the spleen.|HPO|N|
C0038002|Abnormal increased size of the spleen.|HPO|N|
C0038012|Inflammation of the vertebrae (vertebral bodies) or spine.|HPO|N|
C0038013|An autoimmune chronic inflammatory disorder characterized by inflammation in the vertebral joints of the spine and sacroiliac joints. It predominantly affects young males. Patients present with stiffness and pain in the spine.|NCI|N|
C0038015|A disorder of bone growth affecting the vertebrae and the ends of the long bones (epiphyses).|HPO|N|
C0038016|Spondylolisthesis is defined as forward slipping of a vertebral body on the one below it. Spondylolysis is defined as a defect in the pars interarticularis without vertebral slipping (summary by Wiltse et al., 1975).|OMIM|N|
C0038018|Spondylolysis is an osseous defect of the pars interarticularis, thought to be a developmental or acquired stress fracture secondary to chronic low-grade trauma.|HPO|N|
C0038019|A degenerative spinal disease that can involve any part of the vertebra, the intervertebral disk, and the surrounding soft tissue.|MONDO|N|
C0038020|A form of spondylosis involving the INTERVERTEBRAL DISK, including both the annulus and the nucleus of the disk. It is usually the consequence of normal aging.|MSH|N|
C0038034|Sporotrichosis is an infection caused by the dimorphic fungus <i>Sporothrix schenckii</i>, generally occurring by traumatic inoculation of fungus from contaminated soil, plants, and organic matter, that has a highly variable disease spectrum but that usually presents as a subcutaneous mycosis with a single sporotrichotic chancre that may ulcerate and can then progress to lymphocutaneous (most common form; sporotrichotic chancre at inoculation site and a string of similar nodules along the proximal lymphatics), fixed cutaneous (localized asymptomatic, erythematous, papules at the inoculation site), or multifocal or disseminated cutaneous (rare form, with 3 or more lesions involving 2 different anatomical sites) forms. Pulmonary sporotrichosis occurs following inhalation of fungus and manifests as chronic pneumonitis while extracutaneous or systemic sporotrichosis (with osteoarticular, pulmonary, and central nervous system/meningeal disease) has also been reported, usually occurring in the setting of immunosuppression.|ORDO|N|
C0038041|A group of arthropod-borne diseases caused by spotted fever bio-group members of RICKETTSIA. They are characterized by fever, headache, and petechial (spotted) rash.|MSH|N|
C0038044|Deliberate severe and repeated injury to one domestic partner by the other.|MSH|N|
C0038054|A rare disorder of the digestive tract characterized by malabsorption and anemia. It is likely caused by infection leading to small intestinal mucosal injury, bacterial overgrowth and inflammatory changes. It is most prevalent in residents and visitors to tropical and subtropical climates. Clinical signs include anorexia, abdominal bloating, diarrhea and weight loss. Clinical course may progress to deficiencies of folate, vitamin B12 and iron. Prognosis is favorable with nutrient replacement and antibiotic therapy, however relapses are common.|NCI|N|
C0038131|A speech disorder characterized by frequent sound or syllable repetitions, sound prolongations, or other dysfluencies that are inappropriate for the individual's age.|MONDO|N|
C0038157|Gastroenteritis resulting from an infection with Staphylococcus aureus.|NCI|N|
C0038159|Food poisoning that is caused by Staphylococcal infection.|NCI|N|
C0038160|infection by Staphylococcus.|NCI|N|
C0038165|A rare staphylococcal toxemia caused by epidermolytic toxins of <i>Staphylococcus aureus</i> and characterized by the appearance of widespread erythematous patches, on which large blisters develop. Upon rupture of these blisters, the skin appears reddish and scalded. The lesions typically begin in the face and rapidly expand to other parts of the body. The disease may be complicated by pneumonia and sepsis. It most commonly affects newborns and infants.|ORDO|N|
C0038166|Infections to the skin caused by bacteria of the genus STAPHYLOCOCCUS.|MSH|N|
C0038187|Lengthy and continuous deprivation of food. (Stedman, 25th ed)|MSH|N|
C0038218|Severe asthma unresponsive to repeated courses of beta-agonist therapy such as inhaled albuterol, levalbuterol, or subcutaneous epinephrine.|HPO|N|
C0038220|Status epilepticus is a type of prolonged seizure resulting either from the failure of the mechanisms responsible for seizure termination or from the initiation of mechanisms which lead to abnormally prolonged seizures (after time point t1). It is a condition that can have long-term consequences (after time point t2), including neuronal death, neuronal injury, and alteration of neuronal networks, depending on the type and duration of seizures.|HPO|N|
C0038235|A disease of cats and mink characterized by a marked inflammation of adipose tissue and the deposition of ""ceroid"" pigment in the interstices of the adipose cells. It is believed to be caused by feeding diets containing too much unsaturated fatty acid and too little vitamin E. (Merck Veterinary Manual, 5th ed; Stedman, 25th ed)|MSH|N|
C0038238|Greater than normal amounts of fat in the feces. This is a result of malabsorption of lipids in the small intestine and results in frothy foul-smelling fecal matter that floats.|HPO|N|
C0038271|Use of the same abnormal action in response to certain triggers or at random. They may be used as a way to regulate one's internal state but must otherwise have no apparent functional purpose.|HPO|N|
C0038273|Motor behavior that is repetitive, often seemingly driven, and nonfunctional. This behavior markedly interferes with normal activities or results in severe bodily self-injury. The behavior is not due to the direct physiological effects of a substance or a general medical condition. (dsm-iv, 1994)|MONDO|N|
C0038325|Stevens-Johnson syndrome is a limited form of toxic epidermal necrolysis with characteristics of destruction and detachment of the skin epithelium and mucous membranes involving less than 10% of the body surface area. The disease can be triggered by a drug allergy and, more rarely, by infections or bone marrow transplantation. In 25 to 30% of cases, the cause is unclear.|SNOMEDCT_US|N|
C0038337|The increase in a measurable parameter of a PHYSIOLOGICAL PROCESS, including cellular, microbial, and plant; immunological, cardiovascular, respiratory, reproductive, urinary, digestive, neural, musculoskeletal, ocular, and skin physiological processes; or METABOLIC PROCESS, including enzymatic and other pharmacological processes, by a drug or other chemical.|MSH|N|
C0038353|Abnormal distention of the stomach due to accumulation of gastric contents that may reach 10 to 15 liters. Gastric dilatation may be the result of gastric outlet obstruction; ileus; gastroparesis; or denervation.|MONDO|N|
C0038354|A non-neoplastic or neoplastic disorder that affects the stomach. Representative examples of non-neoplastic disorders include gastritis and gastric ulcer. Representative examples of neoplastic disorders include adenomas, carcinomas, and lymphomas.|NCI|N|
C0038355|An outpouching of the gastric wall.|HPO|N|
C0038356|A tumor (abnormal growth of tissue) of the stomach.|HPO|N|
C0038357|Bursting of the STOMACH.|MSH|N|
C0038358|An ulcer, that is, an erosion of an area of the gastric mucous membrane.|HPO|N|
C0038359|A gastric volvulus occurs when the stomach rotates on itself at least 180 degrees along its transverse or longitudinal axis.|HPO|N|
C0038362|Stomatitis is an inflammation of the mucous membranes of any of the structures in the mouth.|HPO|N|
C0038363|Oral aphthous ulcers typically present as painful, sharply circumscribed fibrin-covered mucosal defects with a hyperemic border.|HPO|N|
C0038364|Inflammation of the mouth due to denture irritation.|MONDO|N|
C0038366|Stomatitis caused by Herpesvirus hominis. It usually occurs as acute herpetic stomatitis (or gingivostomatitis), an oral manifestation of primary herpes simplex seen primarily in children and adolescents.|MSH|N|
C0038367|Inflammation of the mouth mucosa associated with the presence of ulcers.|NCI|N|
C0038368|General or unspecified diseases of the stomatognathic system, comprising the mouth, teeth, jaws, and pharynx.|MSH|N|
C0038379|A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.|HPO|N|
C0038395|Any of the several infectious disorders caused by members of streptococcus, a genus of gram positive bacteria belonging to the family Streptococcaceae. Streptococcal infections are classified into Groups A, B, C, D and G.|NCI|N|
C0038435|The negative mental, emotional, and physical reactions that occur when environmental stressors are perceived as exceeding the individual''s adaptive capacities.|NCI|N|
C0038436|An anxiety disorder precipitated by an experience of intense fear or horror while exposed to a traumatic (especially life-threatening) event. The disorder is characterized by intrusive recurring thoughts or images of the traumatic event; avoidance of anything associated with the event; a state of hyperarousal and diminished emotional responsiveness. These symptoms are present for at least one month and the disorder is usually long-term.|NCI|N|
C0038437|The involuntary loss of urine in females secondary to insufficient strength of the pelvic floor muscles; this can result from physical changes following pregnancy and childbirth, or as a response to a decrease in estrogen during menopause.|NCI|N|
C0038441|Anxiety disorders manifested by the development of characteristic symptoms following a psychologically traumatic event that is outside the normal range of usual human experience. Symptoms include re-experiencing the traumatic event, increased arousal, and numbing of responsiveness to or reduced involvement with the external world. Traumatic stress disorders can be further classified by the time of onset and the duration of these symptoms.|MSH|N|
C0038443|Stress wherein emotional factors predominate.|MSH|N|
C0038449|Narrowing or constriction of the inner surface (lumen) of an artery.|HPO|N|
C0038450|Stridor is a high pitched sound resulting from turbulent air flow in the upper airway.|HPO|N|
C0038454|Sudden impairment of blood flow to a part of the brain due to occlusion or rupture of an artery to the brain.|HPO|N|
C0038457|The stromal corneal dystrophies refer to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal stroma, and variable effects on vision depending on the type of dystrophy.|ORDO|N|
C0038459|Infection of horses with parasitic nematodes of the superfamily STRONGYLOIDEA. Characteristics include the development of hemorrhagic nodules on the abdominal peritoneum.|MSH|N|
C0038463|A parasitosis caused by the intestinal nematode <i>Strongyloides stercoralis</i> (round worm).|ORDO|N|
C0038478|An ovarian mature teratoma characterized by the presence of aberrant thyroid tissue.|NCI|N|
C0038505|Sturge-Weber syndrome is characterized by an intracranial vascular anomaly, leptomeningeal angiomatosis, most often involving the occipital and posterior parietal lobes. The most common symptoms and signs are facial cutaneous vascular malformations (port-wine stains), seizures, and glaucoma. Stasis results in ischemia underlying the leptomeningeal angiomatosis, leading to calcification and laminar cortical necrosis. The clinical course is highly variable and some children experience intractable seizures, mental retardation, and recurrent stroke-like episodes (review by Thomas-Sohl et al., 2004).|OMIM|N|
C0038506|Disruptions in the production of speech sounds, with involuntary repetitions of words or parts of words, prolongations of speech sounds, or complete blockage of speech production for several seconds.|HPO|N|
C0038522|Subacute sclerosing panencephalitis (SSPE) is a fatal neurodegenerative disease caused by persistent central nervous system infection with the measles virus (summary by Torisu et al., 2004).|OMIM|N|
C0038525|Hemorrhage occurring between the arachnoid mater and the pia mater.|HPO|N|
C0038531|An uncommon neurovascular condition seen with exertion of the upper extremity. It is usually caused by atherosclerotic stenosis or occlusion of the subclavian artery proximal to the origin of the vertebral artery. In order to maintain adequate perfusion of the arm during exercise on the affected side, the narrowed subclavian artery siphons off retrograde blood flow from the ipsilateral vertebral artery. This is possible due to lower blood pressure distal to the site of narrowing and collateral circulation through the circle of Willis. Affected individuals may remain asymptomatic until the oxygen demand generated from upper extremity exercise requires a large enough compensatory volume of blood to be diverted from the vertebral artery to provoke vertebrobasilar insufficiency and its accompanying neurological sequelae. Presenting clinical signs may include pain or numbness of the affected arm (with diminished pulses and a brachial systolic blood pressure differential of greater than 20 mmHg as compared to the opposite arm), vertigo, tinnitus, dysarthria, diplopia and syncope. Notably, unlike cerebral infarction, the clinical course does not lead to chronic neurologic disability. Prognosis for recovery of normal anterograde circulation is favorable following endovascular or surgical intervention.|NCI|N|
C0038534|Bleeding beneath the mucous membrane that lines the inner surface of the eyelid.|HPO|N|
C0038536|The presence of air or gas in subcutaneous tissue.|NCI|N|
C0038539|An intracranial or rarely intraspinal suppurative process invading the space between the inner surface of the dura mater and the outer surface of the arachnoid.|MONDO|N|
C0038554|A benign or malignant neoplasm that affects the sublingual gland.|NCI|N|
C0038557|A disease involving the submandibular gland.|MONDO|N|
C0038558|A benign or malignant neoplasm that affects the submandibular gland.|NCI|N|
C0038565|An abscess that is located in the anatomical space between the diaphragm and the liver and/or spleen.|NCI|N|
C0038579|Abuse, overuse, or misuse of a substance by its injection into a vein.|MSH|N|
C0038580|The psychological or physiological need to take a substance in order to experience its effects or to avoid the effects of its absence.|MONDO|N|
C0038587|A substance-specific organic brain syndrome that follows the discontinuation of administration or use, or reduction in intake of an addictive substance, e.g. opioids, barbiturates and alcohol; amphetamines or similarly acting sympathomimetics; cocaine; nicotine; sedatives, hypnotics, or anxiolytics. Syndrome manifests with diverse, often painful physical and psychological symptoms, which include but not limited to intense drug craving, anxiety, depression, insomnia, nausea, perspiration, body aches, tremors, hallucinations, and convulsions.|NCI|N|
C0038591|A set of opposing, nonequilibrium reactions catalyzed by different enzymes which act simultaneously, with at least one of the reactions driven by ATP hydrolysis. The results of the cycle are that ATP energy is depleted, heat is produced and no net substrate-to-product conversion is achieved. Examples of substrate cycling are cycling of gluconeogenesis and glycolysis pathways and cycling of the triglycerides and fatty acid pathways. Rates of substrate cycling may be increased many-fold in association with hypermetabolic states resulting from severe burns, cold exposure, hyperthyroidism, or acute exercise.|MSH|N|
C0038604|A benign tumor that affects the distal phalanx, most often the great toe. Grossly it consists of a cartilage cap and a bony stalk. Microscopically it is characterized by an osteochondromatous proliferation with a gradual transition of a peripheral spindle-cell proliferation to hyaline cartilage to trabecular bone. Pain and swelling are present. Simple resection is usually curative.|NCI|N|
C0038605|A thickening of the stratum corneum in the region beneath the nails.|HPO|N|
C0038644|Sudden infant death syndrome (SIDS) is a diagnosis of exclusion which should be made only after a thorough autopsy without identification of a specific cause of death (Mage and Donner, 2004).
Weese-Mayer et al. (2007) provided a detailed review of genetic factors that have been implicated in SIDS. The authors concluded that SIDS represents more than 1 entity and has a heterogeneous etiology most likely involving several different genetically controlled metabolic pathways.|OMIM|N|
C0038661|The act of ending one''s own life.|NCI|N|
C0038732|A morbid condition due to the presence of sulfmethemoglobin in the blood. It is marked by persistent cyanosis, but the blood count does not reveal any special abnormality in the blood. It is thought to be caused by the action of hydrogen sulfide absorbed from the intestine. (Stedman, 25th ed)|MONDO|N|
C0038826|A secondary infection that occurs during an existing infection, or immediately following a previous infection, especially when caused by microorganisms that are resistant or have become resistant to the antibiotics used earlier.|NCI|N|
C0038828|A very rare syndrome characterized by compression of the third portion of the duodenum against the aorta. The compression is caused by the superior mesenteric artery. It results in complete or partial duodenal obstruction. Signs and symptoms include nausea, vomiting, abdominal pain and distention, failure to gain weight, and weight loss.|NCI|N|
C0038833|Obstruction of the blood flow in the superior vena cava caused by a malignant neoplasm, thrombosis, or aneurysm. It is a medical emergency requiring immediate treatment. Signs and symptoms include swelling and cyanosis of the face, neck, and upper arms, cough, orthopnea, and headache.|NCI|N|
C0038835|Occurrence or induction of release of more ova than are normally released at the same time in a given species. The term applies to both animals and humans.|MSH|N|
C0038859|a second mutation occurring at a site different from the first mutation and able to mask or suppress the phenotypic expression of the first mutation; include (1) intragenic suppressor mutation within the same gene, and (2) intergenic suppressor mutation by a suppressor gene.|CSP|N|
C0038868|A rare late-onset neurodegenerative disease with characteristics of supranuclear gaze palsy, postural instability, progressive rigidity, and mild dementia. Five clinical variants have been described with clinicopathological correlations, with Richardson''s syndrome the most common clinical variant. The disease has neuropathological manifestations of neuronal loss, gliosis with astrocytic plaques and accumulation of tau-immunoreactive neurofibrillary tangles in specific brain areas. The differences in the rate and areas of accumulation of phosphorylated tau protein correlate with the five clinical variants. The disease is a 4R tauopathy composed of a preponderance of four-repeat (exon 10 positive) tau isoforms and a characteristic biochemical profile (doublet tau 64 and tau 69). The MAPT H1-clade specific sub-haplotype, H1c, is a risk factor for this disease.|SNOMEDCT_US|N|
C0038874|A benign or malignant neoplasm that occurs within the intracranial cavity above the tentorium cerebelli.|HPO|N|
C0038940|Disruption or deterioration of a surgical wound.|NCI|N|
C0038941|Infection of a surgical skin incision.|NCI|N|
C0038981|Congenital locomotor ataxia of lambs, thought to be associated with copper deficiency. It is characterized clinically by progressive incoordination of the hind limbs and pathologically by disruption of neuron and myelin development in the central nervous system. It is caused by a deficiency of metabolizable copper in the ewe during the last half of her pregnancy. (Dorland, 28th ed; Stedman, 26th ed)|MSH|N|
C0038986|Diseases of the SWEAT GLANDS.|MSH|N|
C0038987|A benign or malignant neoplasm arising from the sweat glands.|NCI|N|
C0038990|A watery secretion by the sweat glands that is primarily composed of salt, urea and minerals.|NCI|N|
C0038992|A febrile response accompanied by diaphoresis.|NCI|N|
C0038994|Gustatory sweating results from a disruption of the auriculotemporal nerve pathways. Damage to the nerve may cause a misdirected regrowth that results in parasympathetic innervation of sympathetic receptors and, therefore, facial sweating and flushing with gustatory stimulation (summary by Dunbar et al., 2002).|OMIM|N|
C0038999|Enlargement; expansion in size; sign of inflammation|NCI|N|
C0039006|Diseases of domestic swine and of the wild boar of the genus Sus.|MSH|N|
C0039007|An acute and chronic contagious disease of young pigs caused by Erysipelothrix insidiosa.|MSH|N|
C0039010|An enterovirus infection of swine clinically indistinguishable from FOOT-AND-MOUTH DISEASE, vesicular stomatitis, and VESICULAR EXANTHEMA OF SWINE. It is caused by a strain of HUMAN ENTEROVIRUS B.|MSH|N|
C0039058|Abnormal anatomical or physiological conditions and objective or subjective manifestations of disease, not classified as disease or syndrome.|MSH|N|
C0039070|Syncope is a syndrome in which loss of consciousness is of relatively sudden onset, temporary (usually less than 1 to 2 minutes), self-terminating, and of usually rapid recovery. Syncope leads to a generalized weakness of muscles with loss of postural tone, inability to stand upright, and loss of consciousness. Once the patient is in a horizontal position, blood flow to the brain is no longer hindered by gravitation and consciousness is regained. Unconsciousness usually lasts for seconds to minutes. Headache and drowsiness (which usually follow seizures) do not follow a syncopal attack. Syncope results from a sudden impairment of brain metabolism usually due to a reduction in cerebral blood flow.|HPO|N|
C0039075|Webbing or fusion of the fingers or toes, involving soft parts only or including bone structure. Bony fusions are referred to as "bony" syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers or toes in a proximo-distal axis are referred to as "symphalangism".|HPO|N|
C0039082|A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition.|NCI|N|
C0039093|A disease characterized by abnormal union between adjacent bones or parts of a single bone formed by osseous material, such as ossified connecting cartilage or fibrous tissue.|MONDO|N|
C0039101|Synovial sarcomas, which represent approximately 10% of all soft tissue sarcomas, are aggressive spindle cell sarcomas containing in some cases areas of epithelial differentiation. They consistently show a specific t(X;18)(p11.2;q11.2), which usually represents either of 2 gene fusions, SYT (600192)-SSX1 (312820) or SYT-SSX2 (300192), encoding putative transcriptional proteins differing at 13 amino acid positions (summary by Ladanyi et al., 2002).
Synovial sarcoma, according to the experience of Enzinger and Weiss (1983), is the fourth most common type of soft tissue sarcoma. It usually develops in adolescents and young adults, is more common in males than in females, and has no racial predilection.|OMIM|N|
C0039103|Inflammation of a synovial membrane.|NCI|N|
C0039106|A rare benign proliferative disorder of the synovial membrane primarily affecting young adults (with a peak age of onset in the second to fourth decade of life) characterized by proliferative, locally invasive tumor-like lesions, usually involving a single joint, tendon sheath or bursa (most commonly the joints of the knee and hip and rarely others such as the ankle, shoulder and temporomandibular joints). It presents with pain and limitation of motion along with swelling, heat and tenderness over the involved joint, eventually leading to arthritic degeneration and significant locomotor deficit, if left untreated. PVNS can recur in patients even after treatment.|ORDO|N|
C0039128|A contagious bacterial infection caused by the spirochete Treponema pallidum. It is a sexually transmitted disorder, although it can also be transmitted from the mother to the fetus in utero. Typically, it is initially manifested with a single sore which heals without treatment. If the infection is left untreated, the initial stage is followed by skin rash and mucous membrane lesions. A late stage follows, which is characterized by damage of the internal organs, including the nervous system.|NCI|N|
C0039130|A tertiary syphilis that is manifested as aneurysm formation in the ascending aorta, caused by chronic inflammatory destruction of the vasa vasorum, insufficiency of the aortic valve, or narrowing of the coronary arteries.|MONDO|N|
C0039131|A rare teratologic disease caused by vertical transmission of the spirochete <i>Treponema pallidum</i> from an infected mother to the fetus, characterized by early congenital syphilis during the first two years of life (maculopapular rash progressing to desquamation, hepatosplenomegaly, osteochondritis, snuffles, and iritis), followed by late congenital syphilis with the classic Hutchinson's triad of Hutchinson's teeth, interstitial keratitis, and eighth nerve deafness. Additional signs may include saddle nose, saber shins, seizures, and mental retardation. Congenital syphilis can also result in stillbirth, neonatal death, and nonimmune hydrops.|ORDO|N|
C0039132|Cutaneous lesions arising from infection with Treponema pallidum. In the primary stage, 18-21 days following infection, one or more chancres appear. If untreated, the subsequent stages of the disease appear as syphilids. These eruptions are superficial, nondestructive, exanthematic, transient, macular roseolas that may later be maculopapular or papular polymorphous or scaly, pustular, pigmented eruptions.(Arnold, Odom, and James, Andrew's Diseases of the Skin, 8th ed, p409)|MONDO|N|
C0039133|A stage of syphilis characterized by the serologic evidence of infection by Treponema pallidum without evidence of accompanying signs or symptoms related to the disease.|NCI|N|
C0039144|Dilated, glial-lined cavity in spinal cord. This cavity does not communicate with the central canal, and usually is between the dorsal columns unilaterally or bilaterally along the side of the cord.|HPO|N|
C0039223|A form of neurosyphilis characterized by slowly progressive degeneration of the spinal cord. Signs and symptoms include pain, ataxia, loss of coordination, personality changes, blindness, urinary incontinence, dementia, and degeneration of the joints.|NCI|N|
C0039231|A rapid heartrate that exceeds the range of the normal resting heartrate for age.|HPO|N|
C0039232|Abnormally rapid heartbeats caused by reentry of atrial impulse into the dual (fast and slow) pathways of ATRIOVENTRICULAR NODE. The common type involves a blocked atrial impulse in the slow pathway which reenters the fast pathway in a retrograde direction and simultaneously conducts to the atria and the ventricles leading to rapid HEART RATE of 150-250 beats per minute.|MSH|N|
C0039234|Chronic supraventricular tachycardia predominantly seen in childhood.|HPO|N|
C0039235|Junctional ectopic tachycardia (JET) is a unique type of supraventricular arrhythmia defined by narrow QRS complex and atrioventricular (AV) dissociation or retrograde atrial conduction in a 1:1 pattern.|HPO|N|
C0039236|An electrocardiographic finding of episodic tachycardia with abrupt onset and termination.|NCI|N|
C0039238|Abnormally rapid heartbeats caused by reentry circuit in or around the SINOATRIAL NODE. It is characterized by sudden onset and offset episodes of tachycardia with a HEART RATE of 100-150 beats per minute. The P wave is identical to the sinus P wave but with a longer PR interval.|MSH|N|
C0039239|Heart rate of greater than 100 beats per minute.|HPO|N|
C0039240|Supraventricular tachycardia (SVT) is an abnormally increased heart rate (over 100 beats per minute at rest) with origin above the level of the ventricles.|HPO|N|
C0039254|A parasitic infection caused by tapeworms of the genus Taenia. Humans are infected by eating undercooked or raw meat of infected animals. It is usually an asymptomatic infection and patients may become aware of the infection by noticing segments of the tapeworm in their feces. If symptoms are present, they include nausea, abdominal pain, indigestion, constipation, or diarrhea.|NCI|N|
C0039263|A rare, congenital anomaly of the great arteries characterized by cranially situated aortic arch ascending into the neck above the clavicles. Most patients remain asymptomatic, some present with a murmur and a pulsatile neck mass, stridor, dyspnea, recurrent bronchitis, dysphagia or signs and symptoms of a stenosis/aneurism of the aortic arch. Other congenital heart anomalies are frequently associated, including abnormalities of arch laterality and branching, aortic coarctation or aneurysm.|ORDO|N|
C0039273|A foot deformity in which the arch of the foot is high and often the heel adducted.|MSH|N|
C0039292|Tangier disease is characterized by severe deficiency or absence of high-density lipoprotein (HDL) in the circulation resulting in tissue accumulation of cholesteryl esters throughout the body, particularly in the reticuloendothelial system. The major clinical signs of Tangier disease include hyperplastic yellow-orange tonsils, hepatosplenomegaly, and peripheral neuropathy, which may be either relapsing-remitting or chronic progressive in nature. Rarer complications may include corneal opacities that typically do not affect vision, premature atherosclerotic coronary artery disease occurring in the sixth and seventh decades of life (not usually before age 40 years), and mild hematologic manifestations, such as mild thrombocytopenia, reticulocytosis, stomatocytosis, or hemolytic anemia. The clinical expression of Tangier disease is variable, with some affected individuals only showing biochemical perturbations.|GeneReviews|N|
C0039319|A syndrome resulting from the entrapment and compression of the tibial nerve. Signs and symptoms include burning sensation, tingling, and pain in the foot sole.|NCI|N|
C0039338|Conditions characterized by an alteration in the ability to perceive taste.|NCI|N|
C0039373|HEXA disorders are best considered as a disease continuum based on the amount of residual beta-hexosaminidase A (HEX A) enzyme activity. This, in turn, depends on the molecular characteristics and biological impact of the HEXA pathogenic variants. HEX A is necessary for degradation of GM2 ganglioside; without well-functioning enzymes, GM2 ganglioside builds up in the lysosomes of brain and nerve cells. The classic clinical phenotype is known as Tay-Sachs disease (TSD), characterized by progressive weakness, loss of motor skills beginning between ages three and six months, decreased visual attentiveness, and increased or exaggerated startle response with a cherry-red spot observable on the retina followed by developmental plateau and loss of skills after eight to ten months. Seizures are common by 12 months with further deterioration in the second year of life and death occurring between ages two and three years with some survival to five to seven years. Subacute juvenile TSD is associated with normal developmental milestones until age two years, when the emergence of abnormal gait or dysarthria is noted followed by loss of previously acquired skills and cognitive decline. Spasticity, dysphagia, and seizures are present by the end of the first decade of life, with death within the second decade of life, usually by aspiration. Late-onset TSD presents in older teens or young adults with a slowly progressive spectrum of neurologic symptoms including lower-extremity weakness with muscle atrophy, dysarthria, incoordination, tremor, mild spasticity and/or dystonia, and psychiatric manifestations including acute psychosis. Clinical variability even among affected members of the same family is observed in both the subacute juvenile and the late-onset TSD phenotypes.|GeneReviews|N|
C0039437|An expected condition experienced by children during the emergence of deciduous teeth. Though a full set of 20 primary teeth takes more than two years to emerge, teething syndrome may be variably noted from the first paired eruption (usually at the sixth month) until the last. Characteristically, irritability, inflamed gingivae, drooling and chewing on solid objects may be seen several days prior to the eruption with rapid resolution. Typically, the lower central incisors appear first followed by the upper central incisors. Molars and canine teeth are the last to erupt. Anecdotal associations with fever and diarrhea are misattributed.|NCI|N|
C0039445|Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular dysplasia leading to telangiectases and arteriovenous malformations of skin, mucosa, and viscera. Epistaxis and gastrointestinal bleeding are frequent complications of mucosal involvement. Visceral involvement includes that of the lung, liver, and brain. The most frequent form of hereditary hemorrhagic telangiectasia maps to the long arm of chromosome 9.
Genetic Heterogeneity of Hereditary Hemorrhagic Telangiectasia
See also HHT2 (600376), caused by mutation in the ALK1 gene (ACVRL1; 601284) on chromosome 12q13; HHT3 (601101), mapped to chromosome 5q31; HHT4 (610655), mapped to chromosome 7p14; and HHT5 (615506), caused by mutation in the GDF2 gene (605120) on chromosome 10q11.
See also juvenile polyposis/HHT syndrome (175050), caused by mutation in the SMAD4 gene (600993).|OMIM|N|
C0039446|Telangiectasias refer to small dilated blood vessels located near the surface of the skin or mucous membranes, measuring between 0.5 and 1 millimeter in diameter. Telangiectasia are located especially on the tongue, lips, palate, fingers, face, conjunctiva, trunk, nail beds, and fingertips.|HPO|N|
C0039483|A systemic autoimmune disorder that typically affects medium and large ARTERIES, usually leading to occlusive granulomatous vasculitis with transmural infiltrate containing multinucleated GIANT CELLS. The TEMPORAL ARTERY is commonly involved. This disorder appears primarily in people over the age of 50. Symptoms include FEVER; FATIGUE; HEADACHE; visual impairment; pain in the jaw and tongue; and aggravation of pain by cold temperatures. (From Adams et al., Principles of Neurology, 6th ed)|MSH|N|
C0039494|A disorder that affects the masticatory muscles and temporomandibular joint.|NCI|N|
C0039496|A common disorder noted with jaw movement. It may be caused by malocclusion, repetitive use injury, trauma or arthritis. It is more prevalent among females between their second and fourth decades. Clinical signs include preauricular pain, temporomandibular joint clicking (as the mandibular condyle slips from the articulation made with the capsular disc and temporal bone) and restriction of jaw motion. Clinical course is typically benign but may progress to associated headaches, ear and neck pain, tinnitus and dislocation of temporomandibular joint. Prognosis is favorable as a majority of cases will respond to conservative management.|NCI|N|
C0039503|Inflammation of a tendon.|HPO|N|
C0039516|inflammation of the lateral epicondyle.|NCI|N|
C0039520|Inflammation of the synovial lining of a tendon sheath. Causes include trauma, tendon stress, bacterial disease (gonorrhea, tuberculosis), rheumatic disease, and gout. Common sites are the hand, wrist, shoulder capsule, hip capsule, hamstring muscles, and Achilles tendon. The tendon sheaths become inflamed and painful, and accumulate fluid. Joint mobility is usually reduced.|MONDO|N|
C0039538|The presence of a teratoma.|HPO|N|
C0039584|A non-neoplastic or neoplastic disorder affecting the testis. Representative examples include torsion, infarction, germ cell tumor, sex cord-stromal tumor, lymphoma, and leukemia.|NCI|N|
C0039585|Androgen insensitivity syndrome (AIS) is typically characterized by evidence of feminization (i.e., undermasculinization) of the external genitalia at birth, abnormal secondary sexual development in puberty, and infertility in individuals with a 46,XY karyotype. AIS represents a spectrum of defects in androgen action and can be subdivided into three broad phenotypes: Complete androgen insensitivity syndrome (CAIS), with typical female external genitalia. Partial androgen insensitivity syndrome (PAIS) with predominantly female, predominantly male, or ambiguous external genitalia. Mild androgen insensitivity syndrome (MAIS) with typical male external genitalia.|GeneReviews|N|
C0039590|The presence of a neoplasm of the testis.|HPO|N|
C0039591|An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to one or both testes.|HPO|N|
C0039613|A cataract resulting from hypocalcemia.|NCI|N|
C0039614|A toxin-mediated infection due to the anaerobic bacteria <i>Clostridium tetani</i> and characterized by spasms and contractions of the skeletal muscles, the disease is often lethal.|ORDO|N|
C0039621|A condition characterized by intermittent involuntary contraction of muscles (spasms) related to hypocalcemia or occasionally magnesium deficiency.|HPO|N|
C0039649|Nonsusceptibility of bacteria to the action of TETRACYCLINE which inhibits aminoacyl-tRNA binding to the 30S ribosomal subunit during protein synthesis.|MSH|N|
C0039685|Each of the heart defects associated with CCHD affects the flow of blood into, out of, or through the heart. Some of the heart defects involve structures within the heart itself, such as the two lower chambers of the heart (the ventricles) or the valves that control blood flow through the heart. Others affect the structure of the large blood vessels leading into and out of the heart (including the aorta and pulmonary artery). Still others involve a combination of these structural abnormalities.\n\nSome people with treated CCHD have few related health problems later in life. However, long-term effects of CCHD can include delayed development and reduced stamina during exercise. Adults with these heart defects have an increased risk of abnormal heart rhythms, heart failure, sudden cardiac arrest, stroke, and premature death.\n\nAlthough babies with CCHD may appear healthy for the first few hours or days of life, signs and symptoms soon become apparent. These can include an abnormal heart sound during a heartbeat (heart murmur), rapid breathing (tachypnea), low blood pressure (hypotension), low levels of oxygen in the blood (hypoxemia), and a blue or purple tint to the skin caused by a shortage of oxygen (cyanosis). If untreated, CCHD can lead to shock, coma, and death. However, most people with CCHD now survive past infancy due to improvements in early detection, diagnosis, and treatment.\n\nCritical congenital heart disease (CCHD) is a term that refers to a group of serious heart defects that are present from birth. These abnormalities result from problems with the formation of one or more parts of the heart during the early stages of embryonic development. CCHD prevents the heart from pumping blood effectively or reduces the amount of oxygen in the blood. As a result, organs and tissues throughout the body do not receive enough oxygen, which can lead to organ damage and life-threatening complications. Individuals with CCHD usually require surgery soon after birth.\n\nPeople with CCHD have one or more specific heart defects. The heart defects classified as CCHD include coarctation of the aorta, double-outlet right ventricle, D-transposition of the great arteries, Ebstein anomaly, hypoplastic left heart syndrome, interrupted aortic arch, pulmonary atresia with intact septum, single ventricle, total anomalous pulmonary venous connection, tetralogy of Fallot, tricuspid atresia, and truncus arteriosus.|MedlinePlus Genetics|N|
C0039726|A disorder of the thalamus. Causes include brain neoplasms, cerebrovascular disorders, brain trauma, brain hypoxia, infections, and brain hemorrhage. Signs and symptoms include movement and sensory abnormalities, visual abnormalities, ataxia, and coma.|NCI|N|
C0039730|An inherited blood disorder characterized by a decreased synthesis of one of the polypeptide chains that form hemoglobin. Anemia results from this abnormal hemoglobin formation.|NCI|N|
C0039743|Thanatophoric dysplasia (TD) is a short-limb skeletal dysplasia that is usually lethal in the perinatal period. TD is divided into subtypes: TD type I is characterized by micromelia with bowed femurs and, uncommonly, the presence of craniosynostosis of varying severity. TD type II is characterized by micromelia with straight femurs and uniform presence of moderate-to-severe craniosynostosis with cloverleaf skull deformity. Other features common to type I and type II include: short ribs, narrow thorax, relative macrocephaly, distinctive facial features, brachydactyly, hypotonia, and redundant skin folds along the limbs. Most affected infants die of respiratory insufficiency shortly after birth. Rare long-term survivors have been reported.|GeneReviews|N|
C0039747|An ovarian or testicular stromal tumor characterized by the presence of lipid-rich neoplastic spindle cells. In females, uterine bleeding is the most common symptom. A minority of post-menopausal women with thecoma have an associated endometrial adenocarcinoma or rarely a malignant mixed mullerian tumor or endometrial stromal sarcoma. Rare cases with nuclear atypia and mitotic activity may metastasize. In males, thecomas are rare and they usually present as slow growing, sometimes painful masses. Metastases have not been reported.|NCI|N|
C0039753|Infection of cattle, sheep, or goats with protozoa of the genus theileria. This infection results in an acute or chronic febrile condition.|MONDO|N|
C0039841|The concentration of vitamin B1 in the blood circulation is below the lower limit of normal.|HPO|N|
C0039870|A state of insufficient flesh on the body usually defined as having a body weight less than skeletal and physical standards, such as BODY MASS INDEX, and dependent on age, sex, and genetic background.|MSH|N|
C0039977|A closed sac-like structure originating from the pleura that contains a liquid, gaseous, or semisolid substance.|HPO|N|
C0039978|A non-neoplastic or neoplastic disorder that affects the thorax and/or the organs of the thoracic cavity. Representative examples include pleural infection, mediastinitis, thymoma, mediastinal lymphoma, and pleural mesothelioma.|NCI|N|
C0039981|A benign or malignant, primary or metastatic neoplasm involving the tissues of the thorax.|NCI|N|
C0039984|Thoracic outlet syndrome (TOS) is a group of disorders characterized by paresthesias, pain and weakness of the upper extremities due to compression, tension or inflammation of the neurovascular bundle as it passes through the thoracic outlet. There are 3 forms of TOS with different clinical pictures and etiologies: neurogenic TOS (NTOS) that can be divided into true or disputed forms, arterial TOS (ATOS) and venous TOS (VTOS) (see these terms).|ORDO|N|
C0040015|Glanzmann thrombasthenia is a bleeding disorder that is characterized by prolonged or spontaneous bleeding starting from birth. People with Glanzmann thrombasthenia tend to bruise easily, have frequent nosebleeds (epistaxis), and may bleed from the gums. They may also develop red or purple spots on the skin caused by bleeding underneath the skin (petechiae) or swelling caused by bleeding within tissues (hematoma). Glanzmann thrombasthenia can also cause prolonged bleeding following injury, trauma, or surgery (including dental work). Women with this condition can have prolonged and sometimes abnormally heavy menstrual bleeding. Affected women also have an increased risk of excessive blood loss during pregnancy and childbirth.\n\nAbout a quarter of individuals with Glanzmann thrombasthenia have bleeding in the gastrointestinal tract, which often occurs later in life. Rarely, affected individuals have bleeding inside the skull (intracranial hemorrhage) or joints (hemarthrosis).\n\nThe severity and frequency of the bleeding episodes in Glanzmann thrombasthenia can vary greatly among affected individuals, even in the same family. Spontaneous bleeding tends to become less frequent with age.|MedlinePlus Genetics|N|
C0040021|A rare inflammatory, non-necrotizing, non-atherosclerotic, occlusive vascular disease characterized by thrombosis and recanalization affecting small and medium sized arteries and veins of upper and lower extremities.|ORDO|N|
C0040028|Essential thrombocythemia (ET) is a myeloproliferative neoplasm (MPN, see this term) characterized by a sustained elevation of platelet number (> 450 x 109/L) with a tendency for thrombosis and hemorrhage.|ORDO|N|
C0040034|A reduction in the number of circulating thrombocytes.|HPO|N|
C0040038|The formation of a blood clot inside a blood vessel that subsequently travels through the blood stream from the site where it formed to another location in the body, generally leading to vascular occlusion at the distant site.|HPO|N|
C0040046|Inflammation of a vein associated with venous thrombosis (blood clot formation within the vein).|HPO|N|
C0040053|The formation of a blood clot in the lumen of a vessel or heart chamber; causes include coagulation disorders and vascular endothelial injury.|NCI|N|
C0040072|A closed sac of tissue (cyst) located in the thymus. Thymic cysts are a rare, benign anomaly, are usually asymptomatic, and mostly occur in the anterior mediastinum .|HPO|N|
C0040100|A tumor originating from the epithelial cells of the thymus.|HPO|N|
C0040101|A thymoma that is completely surrounded by a capsule, without evidence of capsular invasion, infiltration of the surrounding tissues, and metastases.|NCI|N|
C0040115|Enlargement of the thymus.|HPO|N|
C0040124|An abnormality of the thyroid gland owing to the presence of a fibrous cyst resulting from the persistence of the thyroglossal duct.|HPO|N|
C0040127|Acute onset of severe, life-threatening hyperthyroidism caused by a sudden release of excessive thyroid hormone.|NCI|N|
C0040128|A non-neoplastic or neoplastic disorder that affects the thyroid gland. Representative examples include hyperthyroidism, hypothyroidism, thyroiditis, follicular adenoma, and carcinoma.|NCI|N|
C0040136|A tumor (abnormal growth of tissue) of the thyroid gland.|HPO|N|
C0040137|A nodular lesion that develops in the thyroid gland. The term "thyroid nodule" refers to any abnormal growth that forms a lump in the thyroid gland.|HPO|N|
C0040147|Inflammation of the thyroid gland.|HPO|N|
C0040149|Self-limited inflammation of the thyroid gland. The clinical course includes an initial phase of hyperthyroidism, followed by a phase of hypothyroidism, and eventually a return to normal thyroid function. This category includes the subacute lymphocytic thyroiditis and subacute granulomatous thyroiditis.|NCI|N|
C0040150|Thyroiditis due to a bacterial infection.|NCI|N|
C0040156|A hypermetabolic syndrome caused by the elevation of thyroid hormone levels in the serum. Signs and symptoms include tachycardia, palpitations, tremor, weight loss, warm weather intolerance, and moist skin. Causes include Graves disease, toxic nodular goiter, toxic thyroid nodule, and lymphocytic thyroiditis.|NCI|N|
C0040185|A partial or complete breakage of the tibia.|HPO|N|
C0040188|Disorders characterized by recurrent TICS that may interfere with speech and other activities. Tics are sudden, rapid, nonrhythmic, stereotyped motor movements or vocalizations which may be exacerbated by stress and are generally attenuated during absorbing activities. Tic disorders are distinguished from conditions which feature other types of abnormal movements that may accompany another another condition. (From DSM-IV, 1994)|MSH|N|
C0040196|Infestations with soft-bodied (Argasidae) or hard-bodied (Ixodidae) ticks.|MONDO|N|
C0040197|Paralysis caused by a neurotropic toxin secreted by the salivary glands of ticks.|MONDO|N|
C0040198|Toxicoses caused by toxic substances secreted by the salivary glands of ticks; include tick paralysis (neurotropic toxin), sweating sickness (dermotropic toxin), and Rhipicephalus appendiculatus toxicosis (leukotropic toxin).|MSH|N|
C0040213|Idiopathic painful nonsuppurative swellings of one or more costal cartilages, especially of the second rib. The anterior chest pain may mimic that of coronary artery disease.|MONDO|N|
C0040247|A skin infection caused by a fungus.|NCI|N|
C0040249|A superficial mycosis due to T beigelii that is characterized by a soft, friable, beige nodule of the distal ends of hair shafts.|MONDO|N|
C0040250|Ringworm of the scalp and associated hair mainly caused by species of MICROSPORUM; TRICHOPHYTON; and EPIDERMOPHYTON, which may occasionally involve the eyebrows and eyelashes.|MSH|N|
C0040252|A dermatophyte disease of the glabrous skin, excluding the scalp, beard, face, hands, feet, and groin.|MONDO|N|
C0040254|A severe, chronic fungal skin infection, usually of the scalp, characterized by the development of thick, yellow cup-shaped crusts and scarring over hair follicles.|NCI|N|
C0040255|A tinea corporis that results in fungal infection located in skin, has material basis in Trichophyton concentricum, which is characterized by ring-like growth in overlapping circles that may have an autosomal dominant genetic predisposition.|MONDO|N|
C0040259|Dermatological pruritic lesion in the feet, caused by Trichophyton rubrum, T. mentagrophytes, or Epidermophyton floccosum.|MONDO|N|
C0040261|A fungal infection of the toenails or fingernails that tends to cause the nails to thicken, discolor, disfigure, and split.|HPO|N|
C0040262|A skin condition characterized by hypopigmented, pink or tan, confetti-like, discrete and confluent scaly macules distributed on the chest, shoulders and upper back.|NCI|N|
C0040264|Tinnitus is an auditory perception that can be described as the experience of sound, in the ear or in the head, in the absence of external acoustic stimulation.|HPO|N|
C0040336|Any disease or disorder that is caused by the use of tobacco.|NCI|N|
C0040361|A viral infection caused by any of the arboviruses of the Togaviridae family. It is transmitted by arthropods. Signs and symptoms include fever, headache, nausea, vomiting, rash, confusion, and seizures.|NCI|N|
C0040381|An ophthalmoplegic syndrome, affecting all age groups, with characteristics of acute attacks (lasting a few days to a few weeks) of periorbital pain, ipsilateral ocular motor nerve palsies, ptosis, disordered eye movements and blurred vision usually caused by a non-specific inflammatory process in the cavernous sinus and superior orbital fissure. It has an unpredictable course with spontaneous remission occurring in some and recurrence of attacks in others.|SNOMEDCT_US|N|
C0040409|A non-neoplastic or neoplastic disorder that affects the tongue.|NCI|N|
C0040411|A tumor (abnormal growth of tissue) of the tongue.|HPO|N|
C0040412|Accentuation of the grooves on the dorsal surface of the tongue.|HPO|N|
C0040414|A benign condition affecting the dorsum of the tongue. It is characterized by defective desquamation resulting in elongation of the filiform papillae. The dorsum of the tongue has a furry appearance and is usually stained black.|NCI|N|
C0040416|An abnormality of the pupillary light reaction characterized by a marked slowing of the light reaction of usually just one pupil. The pupil tends to be relatively dilated, and there is reduced accommodation.|HPO|N|
C0040422|A benign or malignant neoplasm that affects the tonsil.|NCI|N|
C0040425|Inflammation of the tonsillar tissue.|NCI|N|
C0040427|An abnormality of the morphology of the tooth.|HPO|N|
C0040428|Wearing away of tooth enamel by an outside mechanical force.|NCI|N|
C0040433|Changes in alignment of teeth in the dental arch|HPO|N|
C0040434|A change in tooth color. Causes may be local or systemic and include tobacco use, foods, dental plaques, caries, restorative filling materials, trauma, medications, infections, hereditary diseases, and nutritional deficiencies.|NCI|N|
C0040435|A disease involving the calcareous tooth.|MONDO|N|
C0040436|Progressive loss of tooth tissue by chemical processes that do not involve bacterial action. (Jablonski, Dictionary of Dentistry, 1992, p296)|MONDO|N|
C0040438|A condition in which the permanent teeth, because of deficiency of growth in the jaw or segment of jaw, assume a path of eruption that intercepts a primary tooth, causes its premature loss and produces a consequent malposition of the permanent tooth.|HPO|N|
C0040443|A type of dental trauma characterized by total dislocation of the tooth from its socket.|HPO|N|
C0040444|The movement of teeth into altered positions in relationship to the basal bone of the ALVEOLAR PROCESS and to adjoining and opposing teeth as a result of loss of approximating or opposing teeth, occlusal interferences, habits, inflammatory and dystrophic disease of the attaching and supporting structures of the teeth. (From Boucher''s Clinical Dental Terminology, 4th ed)|MSH|N|
C0040451|Resorption of calcified dental tissue, involving demineralization due to reversal of the cation exchange and lacunar resorption by osteoclasts. There are two types: external (as a result of tooth pathology) and internal (apparently initiated by a peculiar inflammatory hyperplasia of the pulp). (From Jablonski, Dictionary of Dentistry, 1992, p676)|MONDO|N|
C0040456|A tooth that has not erupted because of local impediments (overcrowding or fibrous gum overgrowth).|HPO|N|
C0040457|The presence of one or more teeth additional to the normal number.|HPO|N|
C0040458|A tooth which does not erupt within the teeth eruption timeline and after the loss of eruption potential.|HPO|N|
C0040460|A painful sensation originating from a tooth.|NCI|N|
C0040479|A type of ventricular tachycardia characterized by polymorphioc QRS complexes that change in amplitue and cycle length, and thus have the appearance of oscillating around the baseline in the EKG.|HPO|N|
C0040485|Torticollis is a twisted neck as a result of shortening of sternocleidomastoid muscle. This short and fibrotic muscle pulls the head laterally and rotates the chin and face to the opposite end. Facial asymmetry may be a manifestation (summary by Engin et al., 1997).|OMIM|N|
C0040509|The total volume of air in the lungs after maximum inhalation.|NCI|N|
C0040517|Tourette syndrome is a neurobehavioral disorder manifest particularly by motor and vocal tics and associated with behavioral abnormalities. Tics are sudden, brief, intermittent, involuntary or semi-voluntary movements (motor tics) or sounds (phonic or vocal tics). They typically consist of simple, coordinated, repetitive movements, gestures, or utterances that mimic fragments of normal behavior. Motor tics may range from simple blinking, nose twitching, and head jerking to more complex throwing, hitting, or making rude gestures. Phonic tics include sniffling, throat clearing, blowing, coughing, echolalia, or coprolalia. Males are affected about 3 times more often than females, and onset usually occurs between 3 and 8 years of age. By age 18 years, more than half of affected individuals are free of tics, but they may persist into adulthood (review by Jankovic, 2001).|OMIM|N|
C0040522|Infections with nematodes of the genus toxascaris.|MONDO|N|
C0040524|A condition produced by the presence of toxins or other harmful substances in the BLOOD.|MSH|N|
C0040553|A cosmopolitan zoonotic disease caused in humans by the accidental ingestion of eggs or larvae of the ascarids <i>Toxocara canis</i> or <i>Toxocara cati</i>, the common round worm of dogs and cats respectively. The infestation can be asymptomatic or can present as visceral larva migrans caused by larval migration through major organs such as liver, lungs or central nervous system (manifesting with fever, cough, hepatomegaly, pneumonia or rarely encephalitis), or as ocular larva migrans caused by larval migration to the eye (manifesting as ocular inflammation and retinal scaring).|ORDO|N|
C0040558|A parasitic disease contracted by the ingestion or fetal transmission of toxoplasma gondii.|NCI|N|
C0040559|Acquired infection of non-human animals by organisms of the genus TOXOPLASMA.|MSH|N|
C0040560|A rare fetopathy characterized by ocular, visceral or intracranial lesions secondary to maternal primary infection by <i>Toxoplasma gondii</i> (Tg).|ORDO|N|
C0040561|Ocular toxoplasmosis is an infection in the eye caused by the parasite, Toxoplasm a gondii. Toxoplasmosis is the most common cause of eye inflammation in the world. Toxoplamosis can beacquired or present at birth (congenital), having crossed the placenta from a newly infected mother to her fetus. Most humans acquire toxoplasmosis by eating raw or undercooked meat, vegetables or milk products, or by coming into contact with infected cat litterbox or sandboxes.In humans,the infectionusually causes no symptoms, and resolves without treatment in a few months. In individuals with compromised immune systems, Toxoplasm a gondii can reactivate to cause disease. Reactivation of a congenital infection was traditionally thought to be the most common cause ofocular toxoplasmosis, but an acquired infection is now considered to be more common. A toxoplasmosis infection that affects the eye usually attacks the retina andinitially resolves without symptoms. However,the inactive parasite maylaterreactivate causing eyepain, blurred vision, and possibly permanent damage, including blindness. Although most cases of toxoplasmosis resolve on their own,for some,inflammation can be treated with antibiotics and steroids.|MONDO|N|
C0040580|A non-neoplastic or neoplastic disorder that affects the trachea. Representative examples of non-neoplastic disorders include congenital malformations and infection. Representative examples of neoplastic disorders include carcinoma and lymphoma.|NCI|N|
C0040582|A neoplasm of the trachea.|HPO|N|
C0040583|Narrowing of the lumen of the trachea.|NCI|N|
C0040584|An inflammatory process affecting the wall of the trachea.|NCI|N|
C0040586|Inflammation of the tracheobronchial tree.|NCI|N|
C0040587|Tracheobronchiomegaly is characterized by striking dilatation of the intrathoracic trachea and of the major bronchi (summary by Johnston and Green, 1965).|OMIM|N|
C0040588|An abnormal connection (fistula) between the esophagus and the trachea.|HPO|N|
C0040592|A chronic infection of the conjunctiva and cornea caused by chlamydia trachomatis.|MONDO|N|
C0040702|A neurological disorder presenting in childhood that is characterized by motor and/or phonic tics that occur daily or nearly daily for one to twelve months and are not attributed to an identifiable cause.|NCI|N|
C0040715|A genetic exchange where a piece of one chromosome is transferred to another chromosome.|NCI|N|
C0040761|People with CCHD have one or more specific heart defects. The heart defects classified as CCHD include coarctation of the aorta, double-outlet right ventricle, D-transposition of the great arteries, Ebstein anomaly, hypoplastic left heart syndrome, interrupted aortic arch, pulmonary atresia with intact septum, single ventricle, total anomalous pulmonary venous connection, tetralogy of Fallot, tricuspid atresia, and truncus arteriosus.\n\nCritical congenital heart disease (CCHD) is a term that refers to a group of serious heart defects that are present from birth. These abnormalities result from problems with the formation of one or more parts of the heart during the early stages of embryonic development. CCHD prevents the heart from pumping blood effectively or reduces the amount of oxygen in the blood. As a result, organs and tissues throughout the body do not receive enough oxygen, which can lead to organ damage and life-threatening complications. Individuals with CCHD usually require surgery soon after birth.\n\nAlthough babies with CCHD may appear healthy for the first few hours or days of life, signs and symptoms soon become apparent. These can include an abnormal heart sound during a heartbeat (heart murmur), rapid breathing (tachypnea), low blood pressure (hypotension), low levels of oxygen in the blood (hypoxemia), and a blue or purple tint to the skin caused by a shortage of oxygen (cyanosis). If untreated, CCHD can lead to shock, coma, and death. However, most people with CCHD now survive past infancy due to improvements in early detection, diagnosis, and treatment.\n\nSome people with treated CCHD have few related health problems later in life. However, long-term effects of CCHD can include delayed development and reduced stamina during exercise. Adults with these heart defects have an increased risk of abnormal heart rhythms, heart failure, sudden cardiac arrest, stroke, and premature death.\n\nEach of the heart defects associated with CCHD affects the flow of blood into, out of, or through the heart. Some of the heart defects involve structures within the heart itself, such as the two lower chambers of the heart (the ventricles) or the valves that control blood flow through the heart. Others affect the structure of the large blood vessels leading into and out of the heart (including the aorta and pulmonary artery). Still others involve a combination of these structural abnormalities.|MedlinePlus Genetics|N|
C0040797|Vascular rupture, and the resulting loss of blood, due to physical injury.|NCI|N|
C0040798|Myositis Ossificans resulting from trauma.|NCI|N|
C0040820|A group of parasitoses caused by flat worms that live in contact with epitheliums. Clinical classification depends on the organ infected by the adult parasite: liver, lungs, or intestines.|ORDO|N|
C0040822|An unintentional, oscillating to-and-fro muscle movement about a joint axis.|HPO|N|
C0040830|A rare bacterial infectious disease caused by the louse-borne bacterium <i>Bartonella quintana</i> and characterized by a variable clinical picture with acute or insidious onset of a (potentially relapsing) febrile illness, headache, leg pain (most typically the shinbone), endocarditis, and thrombocytopenia. There may also be only non-specific symptoms that mimic other infections. The disease nowadays most commonly affects socially disadvantaged persons in urban areas.|ORDO|N|
C0040843|A sexually transmitted infection caused by the Gram-negative spirochete Treponema pallidum. It is manifested as syphilis.|NCI|N|
C0040896|Trichinellosis is a zoonotic parasitic disease caused by the consumption of raw or undercooked meat (pork and wild game) infected by nematodes of the genus <i>Trichinella</i> and that is characterized by an enteral (intestinal) phase, that can be asymptomatic or that can manifests with diarrhea, nausea, vomiting and abdominal pain, and a parenteral (muscular) phase, manifesting with fever, periorbital edema, muscle swelling and pain, weakness, and in some cases, skin rash and peripheral edema. Rarely, potentially fatal cardiac (i.e. myocarditis), pulmonary (i.e. pneumonitis, respiratory failure), and nervous system (i.e. meningoencephalitis) complications may occur.|ORDO|N|
C0040921|An infection that is caused by Trichomonas.|NCI|N|
C0040923|A sexually transmitted parasitic infection caused by Trichomonas vaginalis. Symptoms include vaginal discharge, vaginal odor, vaginal itching, and discomfort during intercourse.|NCI|N|
C0040947|Infection by roundworms of the superfamily trichostrongyloidea, including the genera trichostrongylus; ostertagia; Cooperia, haemonchus; Nematodirus, Hyostrongylus, and dictyocaulus.|MONDO|N|
C0040948|Infestation with nematode worms of the genus trichostrongylus. Humans become infected by swallowing larvae, usually with contaminated food or drink, although the larvae may penetrate human skin.|MONDO|N|
C0040953|Trichotillomania (TTM) is a neuropsychiatric disorder characterized by chronic, repetitive, or compulsive hair pulling resulting in noticeable hair loss. The activity causes distress to the individual and often interferes with functioning. Affected individuals may develop physical complications and often have overlapping psychologic disorders, such as Tourette syndrome (GTS; 137580) or obsessive-compulsive disorder (OCD; 164230) (review by Novak et al., 2009).|OMIM|N|
C0040954|An infection that is caused by the nematode Trichuris trichiura, a soil-transmitted helminth, which is transmitted via food and/or water contaminated with the eggs of the worm. Symptoms are usually mild and include abdominal pain, diarrhea, fatigue, and possibly anemia secondary to blood loss in diarrhea.|NCI|N|
C0040961|Failure of the tricuspid valve to close sufficiently upon contraction of the right ventricle, causing blood to regurgitate (flow backward) into the right atrium.|HPO|N|
C0040962|One or more of the leaflets (cusps) of the tricuspid valve bulges back into the right atrium upon contraction of the right ventricle.|HPO|N|
C0040963|A narrowing of the orifice of the tricuspid valve of the heart.|HPO|N|
C0040997|A neuropathic disorder characterized by episodes of intense pain in the face, originating from the trigeminal nerve. One, two, or all three branches of the nerve may be affected.|HPO|N|
C0041022|A combination of congenital heart defects consisting of three key features including ATRIAL SEPTAL DEFECTS; PULMONARY STENOSIS; and RIGHT VENTRICULAR HYPERTROPHY.|MSH|N|
C0041105|Limitation in the ability to open the mouth.|HPO|N|
C0041107|A chromosomal abnormality consisting of the presence of one chromosome in addition to the normal diploid number.|NCI|N|
C0041170|Infestation with mites of the genus Trombiculidae, whose larvae carry the rickettsial agent of scrub typhus.|MONDO|N|
C0041182|A gestational or non-gestational neoplasm composed of neoplastic trophoblastic cells [NCIT:C3422].|HPO|N|
C0041188|Pyomyositis (PM) is a rare primary bacterial infection of the skeletal muscle, usually resulting from hematogenous spread or due to muscle injury, and characterized by pain and tenderness in the affected muscle, fever and abscess formation.|ORDO|N|
C0041206|A single arterial trunk arises from the cardiac mass. The pulmonary arteries, aorta and coronary arteries arise from this single trunk with no evidence of another outflow tract.|HPO|N|
C0041207|Truncus arteriosus (TA) is a rare congenital cardiovascular anomaly characterized by a single arterial trunk arising from the heart by means of a single semilunar valve (<I>i.e.</I> truncal valve). Pulmonary arteries originate from the common arterial trunk distal to the coronary arteries and proximal to the first brachiocephalic branch of the aortic arch. TA typically overrides a large outlet ventricular septal defect (VSD). The intracardiac anatomy usually displays situs solitus and atrioventricular (AV) concordance.|ORDO|N|
C0041227|Infection with protozoa of the genus trypanosoma.|MONDO|N|
C0041228|A rare vector-borne parasitic disease caused by a protozoa of the <i>Trypanosoma</i> genus transmitted by the bite of a tsetse fly (genus <i>Glossina</i>), that is found under its chronic form (average duration of 3 years) in western and central Africa (in case of the <i>T. brucei gambiense</i> sub-species), and under its acute form (lasting from few weeks to 6 months) in eastern and southern Africa (in case of the <i>T. brucei rhodesiense</i> sub-species). HAT comprises an initial hemo-lymphatic stage characterized by fever, weakness, musculoskeletal pain, anemia, and lymphadenopathy, along with dermatologic, cardiac and endocrine complications or hepatosplenomegaly, followed by a meningo-encephalitic stage characterized by neurologic involvement (sleep disturbances, psychiatric disorders, seizures) that progresses, in the absence of treatment, towards a fatal meningoencephalitis.|ORDO|N|
C0041230|Infection in cattle caused by various species of trypanosomes.|MSH|N|
C0041232|Trypanosomiasis caused by infection by Trypanosoma brucei gambiense.|NCI|N|
C0041233|An infection with Trypanosoma brucei rhodesiense.|NCI|N|
C0041234|A tropical disease mainly found in latin America and transmitted by triatomine insects (mostly <i>Triatoma infestans</i> and <i>Rhodnius prolixus</i> and <i>Panstrongylus megistus</i>) harboring the hemoflagellate protozoan parasite <i>Trypanosoma cruzi</i>. The disease is characterized by an acute phase which is either asymptomatic or manifest with fever, inflammation at the inoculation site (inoculation chancre or chagoma), unilateral palpebral edema called the Romaña sign (when the triatomine bite occurs near the eye), enlarged lymph nodes, and splenomegaly. The chronic phase is lifelong and development of chagasic cardiomyopathy (30%; complex arrhythmias, heart failure, and thromboembolic events), digestive (10%; megaoesophagus and megacolon), neurological (10%; stroke, peripheral neuropathy and autonomic dysfunction), or mixed alterations (10%) may be observed. These can all lead to high morbidity and mortality rates.|ORDO|N|
C0041254|An inherited metabolic disease that is has its basis in the disruption of tryptophan metabolic process.|MONDO|N|
C0041274|Blockage of the normal flow of the contents in the fallopian tube.|NCI|N|
C0041295|A tumor-like mass resulting from the enlargement of a tuberculous lesion.|MONDO|N|
C0041296|Tuberculosis (TB) is a contagious-infectious disease caused mainly by <i>Mycobacterium tuberculosis</i> that in most individuals is usually asymptomatic but that in at risk individuals (e.g. with diabetes or with HIV infection) can cause weakness, fever, weight loss, night sweat, and respiratory anomalies such as chronic cough, chest pain, hemoptysis or respiratory insufficiency.|ORDO|N|
C0041306|A variety of TUBERCULOSIS affecting various birds, including chickens and ducks. It is caused by MYCOBACTERIUM AVIUM and characterized by tubercles consisting principally of epithelioid cells.|MSH|N|
C0041307|An infection of cattle caused by MYCOBACTERIUM BOVIS. It is transmissible to man and other animals.|MSH|N|
C0041308|Pathological conditions of the CARDIOVASCULAR SYSTEM caused by infection of MYCOBACTERIUM TUBERCULOSIS. Tuberculosis involvement may include the HEART; the BLOOD VESSELS; or the PERICARDIUM.|MSH|N|
C0041309|Tuberculosis of the skin. It includes scrofuloderma and tuberculid, but not LUPUS VULGARIS.|MSH|N|
C0041310|Infection of the endocrine glands with species of mycobacterium, most often mycobacterium tuberculosis.|MONDO|N|
C0041311|MYCOBACTERIUM infections of the female reproductive tract (GENITALIA, FEMALE).|MSH|N|
C0041312|Tuberculosis that involves any region of the gastrointestinal tract, mostly in the distal ileum and the cecum. In most cases, mycobacterium tuberculosis is the pathogen. Clinical features include abdominal pain; fever; and palpable mass in the ileocecal area.|MONDO|N|
C0041313|Infection of the liver with species of mycobacterium, most often mycobacterium tuberculosis. It is characterized by localized small tuberculous miliary lesions or tumor-like mass (tuberculoma), and abnormalities in liver function tests.|MONDO|N|
C0041315|Extrapulmonary tuberculosis involving the larynx. Signs and symptoms include hoarseness, cough, and odynophagia. The condition is rare.|NCI|N|
C0041316|Tuberculosis of the lymph node.|NCI|N|
C0041317|Mycobacterium infections of the male reproductive tract (genitalia, male).|MONDO|N|
C0041318|A rare bacterial infectious disease caused by <i>Mycobacterium tuberculosis</i>, characterized by a variable clinical picture comprising classic manifestations of meningitis, i. e. headache, fever, and stiff neck, in addition to cranial nerve palsies (most commonly III, VI, and VII), altered mental status, and seizures, among others. Basal meningeal enhancement in neuroimaging, cerebrospinal fluid abnormalities (moderate lymphocytic pleocytosis, moderately elevated protein concentration, low glucose), and a chest x-ray suggestive of pulmonary tuberculosis may support the diagnosis.|ORDO|N|
C0041321|Clinical disease resulting from hematogenous dissemination of Mycobacterium tuberculosis bacilli. Originally described by the appearance of millet seed-like granulomas in the lungs, its progression from sustained bacteremia to extrapulmonary involvement is suggestive of a poor prognosis.|NCI|N|
C0041322|Tuberculous infection of the eye, primarily the iris, ciliary body, and choroid.|MONDO|N|
C0041323|Tuberculosis of the mouth, tongue, and salivary glands.|MONDO|N|
C0041324|Tuberculosis of the bones or joints.|MONDO|N|
C0041325|A form of peritonitis seen in patients with tuberculosis, characterized by lesion either as a miliary form or as a pelvic mass on the peritoneal surfaces. Most patients have ascites, abdominal swelling, abdominal pain, and other systemic symptoms such as fever; weight loss; and anemia.|MONDO|N|
C0041326|Inflammation of the pleura secondary to an infection with Mycobacterium tuberculosis.|NCI|N|
C0041327|A lung infection by Mycobacterium tuberculosis a slightly curved non-motile, aerobic, non-capsulated and non-spore forming strains of mycobacteria.|HPO|N|
C0041328|Infection of the kidney due to mycobacteria.|NCI|N|
C0041330|Tuberculosis of the vertebrae.|NCI|N|
C0041331|Infection of the spleen with species of mycobacterium.|MONDO|N|
C0041333|A general term for mycobacterium infections of any part of the urogenital system in either the male or the female.|MONDO|N|
C0041336|Scarring of the lung parenchyma caused by pulmonary tuberculosis.|NCI|N|
C0041341|Tuberous sclerosis complex (TSC) involves abnormalities of the skin (hypomelanotic macules, confetti skin lesions, facial angiofibromas, shagreen patches, fibrous cephalic plaques, ungual fibromas); brain (subependymal nodules, cortical tubers, and subependymal giant cell astrocytomas [SEGAs], seizures, intellectual disability / developmental delay, psychiatric illness); kidney (angiomyolipomas, cysts, renal cell carcinomas); heart (rhabdomyomas, arrhythmias); and lungs (lymphangioleiomyomatosis [LAM], multifocal micronodular pneumonocyte hyperplasia). Central nervous system tumors are the leading cause of morbidity and mortality; renal disease is the second leading cause of early death.|GeneReviews|N|
C0041343|A tubo-ovarian abscess (TOA) is a complex infectious mass of the adnexa that forms as a sequela of pelvic inflammatory disease.|HPO|N|
C0041349|A form of inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules.|HPO|N|
C0041351|A rare bacterial infectious disease caused by <i>Francisella tularensis</i> and characterized by six major clinical presentations: ulceroglandular, glandular, oropharyngeal, oculoglandular, pneumonic, or typhoidal, depending on the route of infection. Early flu-like symptoms are common to all forms and are accompanied/followed by either a skin inoculation ulcer with localized lymphadenopathy; isolated lymphadenopathy; chronic pharyngitis with cervical lymphadenopathy; conjunctivitis with localized lymphadenopathy; lung involvement; severe systemic disease with neurological symptoms.|ORDO|N|
C0041364|A condition of metabolic abnormalities that result from a spontaneous or therapy-related cytolysis of tumor cells. Tumor lysis syndrome typically occurs in aggressive, rapidly proliferating lymphoproliferative disorders. Burkitt lymphoma and T cell acute lymphoblastic leukemia are commonly associated with this syndrome. Metabolic abnormalities include hyperuricemia, lactic acidosis, hyperkalemia, hyperphosphatemia and hypocalcemia and may result in renal failure, multiple organ failure, and death.|NCI|N|
C0041374|Infections produced by oncogenic viruses. The infections caused by DNA viruses are less numerous but more diverse than those caused by the RNA oncogenic viruses.|MSH|N|
C0041408|Turner syndrome is a chromosomal condition that affects development in people who are assigned female at birth. Females typically have two X chromosomes, but in individuals with Turner syndrome, one copy of the X chromosome is missing or altered.\n\nThe most common feature of Turner syndrome is short stature, which becomes evident by about age 5. Reduced functioning of the ovaries, the female reproductive organs that produce egg cells (oocytes) and female sex hormones, is also very common. The ovaries develop normally at first, but egg cells usually die prematurely and most ovarian tissue breaks down before birth. \n\nMany affected individuals do not undergo puberty unless they receive hormone therapy, and most are unable to become pregnant naturally. A small percentage of people with Turner syndrome retain normal ovarian function through young adulthood.\n\nAbout 30 percent of individuals with Turner syndrome have extra folds of skin on the neck (webbed neck), a low hairline at the back of the neck, puffiness or swelling (lymphedema) of the hands and feet, skeletal abnormalities, or kidney problems. One-third to one-half of individuals with Turner syndrome are born with a heart defect, such as a narrowing of the large artery that leaves the heart (coarctation of the aorta) or abnormalities of the valve that connects the aorta to the heart (the aortic valve). Complications associated with these heart defects can be life-threatening.\n\nMost people with Turner syndrome have normal intelligence. Developmental delays, nonverbal learning disabilities, and behavioral problems are possible, although these characteristics vary among affected individuals.|MedlinePlus Genetics|N|
C0041428|A monoamniotic twin gestation in which the twins share one or more organs.|NCI|N|
C0041466|Typhoid or typhoid fever is a reportable, fecal-oral, potentially fatal infectious disease, caused by the bacteria <i>Salmonella typhi</i> and characterized by a non-focal fever.|ORDO|N|
C0041471|A group of infectious diseases that include epidemic typhus, scrub typhus and murine typhus.|MONDO|N|
C0041472|A Rickettsial disease characterized by headache, fever and macular or maculopapular rash, with only one-third of patients manifesting all three symptoms. Other common symptoms are chills, malaise, stomach pain, myalgia, loss of appetite, and in some cases confusion and altered level of consciousness. Classical laboratory abnormalities include elevated liver enzymes, lactate dehydrogenase, erythrocyte sedimentation rate and hypoalbuminemia. In children, typical symptoms occur in only half of patients, and abdominal pain, diarrhea, sore throat and anemia are more common.|ORDO|N|
C0041473|A Rickettsial disease characterized by malaise and vague symptoms before the onset of high fever, headache, severe myalgias and less commonly petechial rash on the trunk and limbs, nausea, vomiting, coughing and pneumonia. Most patients also have some central nervous system disturbances, such as meningeal irritation, confusion, drowsiness, seizures, coma, and hearing loss.|ORDO|N|
C0041582|A circumscribed inflammatory and often suppurating lesion on the skin or an internal mucous surface resulting in necrosis of tissue.|NCI|N|
C0041657|Loss of alertness and orientation to place and time.|HPO|N|
C0041671|behavior disorder originating in childhood in which the essential features are signs of developmentally inappropriate inattention, impulsivity, and hyperactivity; although most individuals have symptoms of both inattention and hyperactivity-impulsivity, one or the other pattern may be predominant; symptoms often attenuate during late adolescence although a minority experience the full complement of symptoms into mid-adulthood.|CSP|N|
C0041674|The state of not having a job.|NCI|N|
C0041696|A mood disorder having a clinical course involving one or more episodes of serious psychological depression that last two or more weeks each, do not have intervening episodes of mania or hypomania, and are characterized by a loss of interest or pleasure in almost all activities and by some or all of disturbances of appetite, sleep, or psychomotor functioning, a decrease in energy, difficulties in thinking or making decisions, loss of self-esteem or feelings of guilt, and suicidal thoughts or attempts.|NCI|N|
C0041747|A pregnancy that was not desired or was timed incorrectly at the time that the conception occurred.|NCI|N|
C0041755|An unpleasant or harmful reaction resulting from treatment with a drug.|HPO|N|
C0041784|Any anatomic abnormality of the arm located between the elbow and the wrist.|NCI|N|
C0041825|A disease involving the tympanic membrane.|MONDO|N|
C0041834|Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin.|HPO|N|
C0041848|Neuropathy, the cause of which is not known.|NCI|N|
C0041862|Any mental disorder that occurs secondary to organic brain damage, and that is not associated with psychosis.|NCI|N|
C0041891|An organic mental disorder that is temporary in nature.|NCI|N|
C0041899|Lability of an individual''s outward presentation, which is characterized by unpredictable social behavior or uneven mood.|NCI|N|
C0041904|A positive regulatory effect on physiological processes at the molecular, cellular, or systemic level. At the molecular level, the major regulatory sites include membrane receptors, genes (GENE EXPRESSION REGULATION), mRNAs (RNA, MESSENGER), and proteins.|MSH|N|
C0041909|Bleeding originating from the upper gastrointestinal tract (oral cavity, pharynx, esophagus, and stomach).|NCI|N|
C0041912|An infectious process affecting the upper respiratory tract (nose, paranasal sinuses, pharynx, larynx, or trachea). Symptoms include congestion, sneezing, coughing, fever, and sore throat.|NCI|N|
C0041915|A cyst located along the allantois canal.|HPO|N|
C0041948|A clinical syndrome associated with the retention of renal waste products or uremic toxins in the blood. It is usually the result of renal insufficiency. Most uremic toxins are end products of protein or nitrogen catabolism, such as urea or creatinine. Severe uremia can lead to multiple organ dysfunctions with a constellation of symptoms.|MONDO|N|
C0041952|The presence of a calculus in the ureter of the kidney; this is most often composed of mineral salts and proteins.|NCI|N|
C0041955|The presence of a neoplasm of the ureter.|HPO|N|
C0041956|Obstruction of the flow of urine through the ureter.|HPO|N|
C0041959|An acute or chronic inflammatory process affecting the ureter.|NCI|N|
C0041960|A ureterocele is a congenital saccular dilatation of the distal segment of the ureter.|HPO|N|
C0041969|A non-neoplastic or neoplastic disorder that affects the urethra.|NCI|N|
C0041970|The presence of an abnormal connection between the urethra and another organ or the skin.|HPO|N|
C0041971|The presence of a neoplasm of the urethra.|HPO|N|
C0041972|Obstruction of the flow of urine through the urethra.|HPO|N|
C0041974|Abnormal narrowing of the urethra.|HPO|N|
C0041976|Inflammation of the urethra.|HPO|N|
C0041981|A laboratory test result indicating abnormally high concentration of uric acid in the blood.|NCI|N|
C0042021|An abnormal communication between any part of the urinary system and another organ or cavity.|NCI|N|
C0042023|Increased frequency of urination.|HPO|N|
C0042024|Loss of the ability to control the urinary bladder leading to involuntary urination.|HPO|N|
C0042025|Involuntary urine leakage synchronous with exertion, or actions such as sneezing, or coughing.|HPO|N|
C0042029|A bacterial infectious process affecting any part of the urinary tract, most commonly the bladder and the urethra. Symptoms include urinary urgency and frequency, burning sensation during urination, lower abdominal discomfort, and cloudy urine.|NCI|N|
C0042033|An abnormal connection between the urinary system and the genitals in a female.|NCI|N|
C0042035|Abnormalities in the process of URINE voiding, including bladder control, frequency of URINATION, as well as the volume and composition of URINE.|MSH|N|
C0042063|The presence of any abnormality of the genitourinary system.|HPO|N|
C0042065|A tumor (abnormal growth of tissue) of the genitourinary system.|HPO|N|
C0042075|A non-neoplastic or neoplastic disorder affecting the urinary system.|NCI|N|
C0042076|The presence of a neoplasm of the urinary system.|HPO|N|
C0042109|Raised, well-circumscribed areas of erythema and edema involving the dermis and epidermis. Urticaria is intensely pruritic, and blanches completely with pressure.|HPO|N|
C0042111|Maculopapular cutaneous mastocytosis (MCM) is a form of cutaneous mastocytosis (CM; see this term) characterized by the presence of multiple hyperpigmented macules, papules or nodules associated with abnormal accumulation of mast cells in the skin.|ORDO|N|
C0042131|A non-neoplastic or neoplastic disorder that affects the uterine corpus or the cervix. Representative examples of non-neoplastic disorders include endometritis and cervicitis. Representative examples of neoplastic disorders include endometrial carcinoma, carcinosarcoma, and cervical carcinoma.|NCI|N|
C0042133|Uterine leiomyoma (UL), commonly known as fibroids, are benign tumors of the uterine myometrium. They represent the most prevalent pelvic tumors in women and are found in more than 75% of women of reproductive age. Approximately 20 to 25% of women with UL exhibit symptoms including menorrhagia, infertility, pelvic pain, and a range of complications during pregnancy. UL are the leading cause for hysterectomy in the United States, accounting for 30% of all hysterectomies (summary by Eggert et al., 2012).|OMIM|N|
C0042134|Bleeding originating from the uterus.|NCI|N|
C0042135|Failure of the UTERUS to contract with normal strength, duration, and intervals during childbirth (LABOR, OBSTETRIC). It is also called uterine atony.|MSH|N|
C0042138|A tumor (abnormal growth of tissue) of the uterus.|HPO|N|
C0042139|A rupture in the uterus due to traumatic or pathologic processes.|NCI|N|
C0042140|The presence of prolapse of the uterus.|HPO|N|
C0042143|The complete, nonsurgical disruption of all layers of the uterus.|NCI|N|
C0042161|A non-neoplastic or neoplastic disorder that affects the uvea. Representative examples include uveitis, chorioretinitis, and uveal melanoma.|NCI|N|
C0042162|A neoplasm that affects the uvea. Uveal melanoma is a representative example.|NCI|N|
C0042164|Inflammation of one or all portions of the uveal tract.|HPO|N|
C0042165|Inflammation of the uveal tract in which the primary site of inflammation is the anterior chamber.|HPO|N|
C0042166|Inflammation of the uveal tract in which the primary site of inflammation is the vitreous.|HPO|N|
C0042167|Inflammation of the uveal tract in which the primary site of inflammation is the retina or choroid.|HPO|N|
C0042168|Intraocular infection caused mainly by pus-producing bacteria and rarely by fungi. The infection may be caused by an injury or surgical wound (exogenous) or by endogenous septic emboli in such diseases as bacterial endocarditis or meningococcemia.|MONDO|N|
C0042170|Vogt-Koyanagi-Harada disease is a bilateral, chronic, diffuse granulomatous panuveitis typically characterized by serous retinal detachment and frequently associated with neurological (meningitis), auditory, and dermatological alterations.|ORDO|N|
C0042171|A manifestation of sarcoidosis marked by chronic inflammation of the parotid gland and the uvea.|MONDO|N|
C0042174|Inflammation of the uvula.|NCI|N|
C0042214|The cutaneous and occasional systemic reactions associated with vaccination using smallpox (variola) vaccine.|MONDO|N|
C0042237|A primary or metastatic malignant neoplasm involving the vagina. Representative examples include carcinomas and sarcomas.|NCI|N|
C0042251|A non-neoplastic or neoplastic disorder that affects the vagina. Representative examples include vaginal infection, vaginal polyp, and vaginal squamous cell carcinoma.|NCI|N|
C0042253|The presence of a fistula of the vagina.|HPO|N|
C0042256|A sensation of itching in the vagina.|HPO|N|
C0042258|A tumor (abnormal growth of tissue) of the vagina.|HPO|N|
C0042266|Involuntary spasm of the outer muscles of the vagina during penetration that results from a psychological cause.|NCI|N|
C0042267|Inflammation of the vagina that can result from a spectrum of conditions that cause vaginal and sometimes vulvar symptoms, such as itching, burning, irritation, odor, and vaginal discharge.|HPO|N|
C0042300|Structural abnormality in which a valve fails to close properly. This includes abnormalities of the valve leaflets as well as so-called functional insufficiency due to other abnormalities such as annular dilatation in the presence of morphologically normal leaflets.|SNOMEDCT_US|N|
C0042313|A branched tricyclic glycosylated peptide with bactericidal activity against most organisms and bacteriostatic effect on enterococci. At a site different from that of penicillins and cephalosporins, vancomycin binds tightly to the D-alanyl-D-alanine portion of cell wall precursors, thereby interfering with bacterial cell wall synthesis. This leads to activation of bacterial autolysins that destroy the cell wall by lysis. Vancomycin may also alter the permeability of bacterial cytoplasmic membranes and may selectively inhibit RNA synthesis.|NCI|N|
C0042341|A varicocele is a widening of the veins along the spermatic cord, leading to enlarged, twisted veins in the scrotum, and manifested clinically by a painless testicle lump, scrotal swelling, or bulge in the scrotum.|HPO|N|
C0042344|Skin breakdown or ulceration in the drainage area of a VARICOSE VEIN, usually in the leg.|MSH|N|
C0042345|Enlarged and tortuous veins.|HPO|N|
C0042347|Inflammation of enlarged and tortuous veins in the hip, thigh, leg and/or foot.|NCI|N|
C0042370|A disorder of the vasculature of the conjunctiva.|NCI|N|
C0042373|A non-neoplastic or neoplastic disorder affecting the arteries, veins, or lymphatic vessels. Examples include vasculitis, thrombophlebitis, arteriosclerosis, lymphedema, hemangioma, and angiosarcoma.|NCI|N|
C0042376|Headache caused by abnormal functioning of the vascular system.|NCI|N|
C0042384|Inflammation of blood vessel.|HPO|N|
C0042420|A vasovagal episode or vasovagal syncope is the most common form of reflex syncope. Reflex syncope is a general term used to describe types of syncope resulting from a failure in autoregulation of blood pressure, and ultimately, in cerebral perfusion pressure resulting in transient loss of consciousness. The mechanisms responsible for this are complex and involve both depression of cardiac output as well as a decrease in vascular tone.|HPO|N|
C0042454|Inability of velopharyngeal sphincter to sufficiently separate the nasal cavity from the oral cavity during speech.|HPO|N|
C0042465|Tumors most commonly seen on or near the genitalia. They are venereal, most likely transmitted through transplantation of cells by contact. Metastases have been reported. Spontaneous regression may occur.|MSH|N|
C0042470|Venezuelan hemorrhagic fever (VHF), caused by the Guanarito virus, is a viral hemorrhagic disease characterized by fever, headache, arthralgia, sore throat, convulsions, and hemorrhagic manifestations.|ORDO|N|
C0042484|Tissue congestion due to the obstruction of venous blood flow return.|NCI|N|
C0042485|A condition in which there is inadequate blood flow through a vein.|NCI|N|
C0042487|Thrombophilia is a multifactorial disorder of inappropriate clot formation resulting from an interaction of genetic, acquired, and circumstantial predisposing factors. Venous thromboembolism most commonly manifests as deep vein thrombosis, which may progress to pulmonary embolism if the clot dislodges and travels to the lung. Other manifestations include thromboses of the cerebral or visceral veins and recurrent pregnancy loss (summary by Seligsohn and Lubetsky, 2001 and Varga and Kujovich, 2012).
Genetic Heterogeneity of Thrombophilia
THPH2 (188055) is caused by mutation in the F5 gene (612309) on chromosome 1q23; THPH3 (176860) and THPH4 (612304) are both caused by mutation in the PROC gene (612283) on 2q; THPH5 (612336) and THPH6 (614514) are caused by mutation in the PROS1 gene (176880) on 3q11; THPH7 (613118) is caused by mutation in the AT3 gene (107300) on 1q25; THPH8 (300807) is caused by mutation in the F9 gene (300746) on Xq27; THPH9 (612348) is associated with decreased release of tissue plasminogen activator (PLAT; 173370); THPH10 (612356) is caused by mutation in the HCF2 gene (142360) on 22q11; THPH11 (613116) is caused by mutation in the HRG gene (142640) on 3q27; and THPH12 (614486) is associated with variation in the THBD gene (188040) on 20p11.
Susceptibility to thrombosis has also been associated with variation in additional genes, including MTHFR (607093.0003); F13B (134580.0003); plasminogen activator inhibitor (SERPINE1; 173360); and several genes encoding fibrinogen (FGA, 134820; FGB, 134830; FGG, 134850). Variation in the SERPINA10 (see 605271.0001), KNG1 (612358) and HABP2 (603924) genes has also been reported.
Protection against venous thrombosis is associated with variation in the F13A1 gene (134570) on 6p25.|OMIM|N|
C0042509|The volume of blood in a ventricle after DIASTOLE.|MSH|N|
C0042510|Uncontrolled contractions of muscles fibers in the left ventricle not producing contraction of the left ventricle. Ventricular fibrillation usually begins with a ventricular premature contraction and a short run of rapid ventricular tachycardia degenerating into uncoordinating ventricular fibrillations.|HPO|N|
C0042512|Occlusion of the outflow tract in either the LEFT VENTRICLE or the RIGHT VENTRICLE of the heart. This may result from CONGENITAL HEART DEFECTS, predisposing heart diseases, complications of surgery, or HEART NEOPLASMS.|MSH|N|
C0042514|A tachycardia originating in the ventricles characterized by rapid heart rate (over 100 beats per minute) and broad QRS complexes (over 120 ms).|HPO|N|
C0042548|Multiple verrucous lesions on the skin of the sole of the foot. These lesions are raised, have a thickened and rough surface, and may display prominent black dots (thrombosed capillaries). Palmar warts are caused by caused by human papillomavirus (HPV).|HPO|N|
C0042560|A syndrome which occurs as a result of the occlusion of one of the vertebral arteries. It may be caused by atherosclerosis, embolism or hemorrhage. Collateral circulation through the circle of Willis is usually comprised as well. Clinical signs may include vertigo, nystagmus, dysarthria, ataxia and sensorimotor deficits. Clinical course may lead to persistence of neurologic deficits. Prognosis is variable with a substantial risk for recurrent infarction.|MONDO|N|
C0042568|Localized or diffuse reduction in blood flow through the vertebrobasilar arterial system, which supplies the brain stem; cerebellum; occipital lobe; medial temporal lobe; and thalamus. Characteristic clinical features include syncope; lightheadedness; visual disturbances; and vertigo. brain stem infarctions or other brain infarction may be associated.|MONDO|N|
C0042571|An abnormal sensation of spinning while the body is actually stationary.|HPO|N|
C0042580|Vesicoureteral reflux (VUR) is characterized by the reflux of urine from the bladder into the ureters and sometimes into the kidneys. It is a risk factor for urinary tract infections. Primary VUR results from a developmental defect of the ureterovesical junction (UVJ). In combination with intrarenal reflux, the resulting inflammatory reaction may result in renal injury or scarring, also called reflux nephropathy (RN). Extensive renal scarring impairs renal function and may predispose patients to hypertension, proteinuria, and renal insufficiency (summary by Lu et al., 2007).
Genetic Heterogeneity of Vesicoureteral Reflux
A locus designated VUR1 maps to chromosome 1p13. VUR2 (610878) is caused by mutation in the ROBO2 gene (602431) on chromosome 3p12; VUR3 (613674) is caused by mutation in the SOX17 gene (610928) on chromosome 8q11; VUR4 (614317) maps to chromosome 5; VUR5 (614318) maps to chromosome 13; VUR6 (614319) maps to chromosome 18; VUR7 (615390) maps to chromosome 12; and VUR8 (615963) is caused by mutation in the TNXB gene (600985) on chromosome 6p21. A possible X-linked form has been reported (VURX; 314550).|OMIM|N|
C0042582|The presence of a fistula connecting the urinary bladder to the vagina.|HPO|N|
C0042584|A calicivirus infection of swine characterized by hydropic degeneration of the oral and cutaneous epithelia.|MSH|N|
C0042588|An inflammatory disease involving a pathogenic inflammatory response in the seminal vesicle.|MONDO|N|
C0042594|Pathological processes of the vestibular labyrinth which contains part of the balancing apparatus. Patients with vestibular diseases show instability and are at risk of frequent falls.|MONDO|N|
C0042636|Infections with bacteria of the genus vibrio.|MONDO|N|
C0042693|An act of aggression between individuals.|NCI|N|
C0042721|Inflammation of the liver due to infection with a virus.|HPO|N|
C0042749|The presence of virus in the blood.|HPO|N|
C0042755|The abnormal development of male secondary sexual characteristics due to excessive androgens.|NCI|N|
C0042769|Any disease caused by a virus.|NCI|N|
C0042782|Abnormal increased size of the viscera of the abdomen.|HPO|N|
C0042783|The prolapse or downward displacement of the VISCERA.|MSH|N|
C0042790|Any impairment to the vision.|NCI|N|
C0042795|Visual sensation derived from sensory stimulation by objects or shadows inside the eye itself, such as floating vitreous fibers, tissues, or blood.|MSH|N|
C0042798|Reduced ability to perceive visual stimuli.|NCI|N|
C0042818|Adverse effects experienced with normal viewing, which may include eye strain, blurred vision, and diplopia.|NCI|N|
C0042842|Concentration of vitamin A below the lower limit of normal in the blood circulation.|HPO|N|
C0042847|The concentration of vitamin B12 in the blood circulation is below the lower limit of normal.|HPO|N|
C0042850|Abnormally low concentrations of vitamin B in the blood.|NCI|N|
C0042870|The concentration of vitamin D in the blood circulation is below the lower limit of normal.|HPO|N|
C0042875|A reduced concentration of vitamin E in the blood circulation. Vitamin E is a lipophilic vitamin that is also known as alpha-tocopherol.|HPO|N|
C0042880|Deficiency of vitamin K. It may lead to bleeding, manifested with ecchymoses, petechiae, and hematomas. In infants it may cause hemorrhagic disease of newborn with intracranial and retroperitoneal bleeding.|NCI|N|
C0042900|Generalized well circumscribed patches of leukoderma that are generally distributed over symmetric body locations and is due to autoimmune destruction of melanocytes.|NCI|N|
C0042907|The separation of the vitreous from the retina.|NCI|N|
C0042909|Bleeding within the vitreous compartment of the eye.|HPO|N|
C0042928|A loss of the ability to move the vocal folds.|HPO|N|
C0042929|A small growth on a vocal cord that may appear as pedunculated or sessile and have varying size, shape, and color.|HPO|N|
C0042940|A pathologic process in the larynx that affects the production of speech. Causes include vocal cord paresis, vocal cord nodule, vocal cord polyp, and laryngitis.|NCI|N|
C0042951|An ischemic contracture of the forearm that most often occurs secondary to trauma.|NCI|N|
C0042961|Abnormal twisting of a portion of intestine around itself or around a stalk of mesentery tissue.|HPO|N|
C0042963|Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions.|HPO|N|
C0042964|A situation in which an individual vomits prior to a medical treatment, commonly chemotherapy, as part of a conditioned/learned response after having previously experienced nausea and/or vomiting as a direct result of that same (or a similar) treatment.|NCI|N|
C0042974|Von Willebrand disease is a bleeding disorder that slows the blood clotting process, causing prolonged bleeding after an injury. People with this condition often experience easy bruising, long-lasting nosebleeds, and excessive bleeding or oozing following an injury, surgery, or dental work. Mild forms of von Willebrand disease may become apparent only when abnormal bleeding occurs following surgery or a serious injury. People with this condition who have menstrual periods typically have heavy or prolonged bleeding during menstruation (menorrhagia), and some may also experience reproductive tract bleeding during pregnancy and childbirth. In severe cases of von Willebrand disease, heavy bleeding occurs after minor trauma or even in the absence of injury (spontaneous bleeding). Symptoms of von Willebrand disease may change over time. Increased age, pregnancy, exercise, and stress may cause bleeding symptoms to become less frequent.\n\nVon Willebrand disease is divided into three types. Type 1 has one subtype (1C), and type 2 is divided into four subtypes (2A, 2B, 2M, and 2N). Type 1 is the most common of the three types, accounting for 75 percent of affected individuals. Type 1 is typically mild, but some people are severely affected. Type 2 accounts for about 15 percent of cases. This type is usually of intermediate severity. Type 3 is the rarest form of the condition, accounting for about 5 percent of affected individuals, and is usually the most severe. \n\nAnother form of the disorder, acquired von Willebrand syndrome, is not caused by inherited gene variants (also called mutations).  Acquired von Willebrand syndrome is typically seen in people with other disorders, such as diseases that affect bone marrow or immune cell function. This rare form of the condition is characterized by abnormal bleeding into the skin and other soft tissues, usually beginning in adulthood.|MedlinePlus Genetics|N|
C0042979|A disorder characterized by recurrent sexual urges, fantasies, or behaviors involving observing an unsuspecting person who is naked, disrobing, or engaging in sexual activity.|NCI|N|
C0042994|A non-neoplastic or neoplastic disorder that affects the vulva. Representative examples include infection, Bartholin gland adenoma, and vulvar carcinoma.|NCI|N|
C0042995|A tumor (abnormal growth of tissue) of the female external genital tract (vulva).|HPO|N|
C0042996|Inflammation of the vulva. It is characterized by pruritus and painful urination.|MONDO|N|
C0042998|An inflammatory pathologic process that affects the vulva and the vagina.|NCI|N|
C0043019|A syndrome caused by an infarct in the vertebral or posterior inferior cerebellar artery. It is characterized by sensory defects affecting the same side of the face as the infarct and the opposite side of the trunk as the infarct. Patients experience difficulty swallowing and/or speaking.|NCI|N|
C0043020|A condition caused by degeneration, atrophy, and destruction of the distal part of a nerve fiber''s axon and myelin, when continuity with the neural cell nucleus has been severed due to injury. Signs and symptoms include muscle weakness, altered sensation, and limb numbness.|NCI|N|
C0043037|A papillomavirus related epithelial overgrowth. It can be located anywhere on the body though when it involves the perineal region it is generally referred to as condyloma acuminatum.|NCI|N|
C0043046|Pathologic loss of more than 10% of body weight concurrent with 30 or more days of either diarrhea or weakness and fever.|NCI|N|
C0043049|A condition resulting from the excessive retention of water with sodium depletion.|MONDO|N|
C0043065|Disturbances in the body''s WATER-ELECTROLYTE BALANCE.|MSH|N|
C0043068|A serious disorder characterized by massive adrenal gland hemorrhage secondary to a bacterial infection, most often Neisseria meningitidis infection. It is manifested with decreased blood pressure, shock, disseminated intravascular coagulation, and adrenocortical insufficiency.|NCI|N|
C0043084|Permanent deprivation of breast milk and commencement of nourishment with other food. (From Stedman, 25th ed)|MSH|N|
C0043094|Abnormally increased body weight.|HPO|N|
C0043102|A jauncice caused by severe leptospirosis.|MONDO|N|
C0043116|Spinal muscular atrophy (SMA) is characterized by muscle weakness and atrophy resulting from progressive degeneration and irreversible loss of the anterior horn cells in the spinal cord (i.e., lower motor neurons) and the brain stem nuclei. The onset of weakness ranges from before birth to adulthood. The weakness is symmetric, proximal > distal, and progressive. Before the genetic basis of SMA was understood, it was classified into clinical subtypes based on maximum motor function achieved; however, it is now apparent that the phenotype of SMN1-associated SMA spans a continuum without clear delineation of subtypes. With supportive care only, poor weight gain with growth failure, restrictive lung disease, scoliosis, and joint contractures are common complications; however, newly available targeted treatment options are changing the natural history of this disease.|GeneReviews|N|
C0043119|Werner syndrome is characterized by the premature appearance of features associated with normal aging and cancer predisposition. Individuals with Werner syndrome develop normally until the end of the first decade. The first sign is the lack of a growth spurt during the early teen years. Early findings (usually observed in the 20s) include loss and graying of hair, hoarseness, and scleroderma-like skin changes, followed by bilateral ocular cataracts, type 2 diabetes mellitus, hypogonadism, skin ulcers, and osteoporosis in the 30s. Myocardial infarction and cancer are the most common causes of death; the mean age of death in individuals with Werner syndrome is 54 years.|GeneReviews|N|
C0043121|An acute neurological disorder characterized by the triad of ophthalmoplegia, ataxia, and disturbances of mental activity or consciousness. Eye movement abnormalities include nystagmus, external rectus palsies, and reduced conjugate gaze. thiamine deficiency and chronic alcoholism are associated conditions. Pathologic features include periventricular petechial hemorrhages and neuropil breakdown in the diencephalon and brainstem. Chronic thiamine deficiency may lead to korsakoff syndrome. (Adams et al., Principles of Neurology, 6th ed, pp1139-42; Davis & Robertson, Textbook of Neuropathology, 2nd ed, pp452-3)|MONDO|N|
C0043124|A mosquito-borne viral illness caused by the west nile virus, a flavivirus and endemic to regions of Africa, Asia, and Europe. Common clinical features include headache; fever; maculopapular rash; gastrointestinal symptoms; and lymphadenopathy. meningitis; encephalitis; and myelitis may also occur. The disease may occasionally be fatal or leave survivors with residual neurologic deficits. (From Joynt, Clinical Neurology, 1996, Ch26, p13; Lancet 1998 Sep 5;352(9130):767-71)|MONDO|N|
C0043144|A high-pitched whistling sound associated with labored breathing.|HPO|N|
C0043152|A congenital reproductive abnormality in white female offspring (heifers) in certain breeds of CATTLE, such as Belgian Blue and Shorthorn. The white color is inherited as a recessive trait which is associated with defects in the female reproductive tract (Muellerian system). These heifers are usually sterile.|MSH|N|
C0043153|A myodegeneration most frequent in calves and lambs whose dams have been fed during gestation or longer on feeds, especially legumes (FABACEAE), grown in certain areas where selenium is either deficient or unavailable in the soil. It has been recorded in many countries. It has been produced experimentally in several species of animals on low-selenium intake. A similar myopathy occurs naturally in goats, deer, foals, and dogs but proof of the etiology is lacking. (Merck Veterinary Manual, 5th ed)|MSH|N|
C0043167|A rare bacterial infectious disease characterized by severe coughing paroxysms with inspiratory whooping and posttussive vomiting, caused by infection with <i>Bordetella pertussis</i>. After a variable incubation time, the clinical course progresses through a catarrhal stage with sore throat, nasal congestion, rhinorrhea, and mild progressive dry cough, a paroxysmal stage with the typical paroxysmal coughing, and finally convalescence. Disease duration is usually 2-3 months, often with milder presentation in adolescents and adults than in infants and children.|ORDO|N|
C0043168|A type of cough characterized by a burst of numerous and rapid coughs followed by a long inhaling effort that is accompanied by a high-pitched whooping sound produced by the inhalation of air.|HPO|N|
C0043194|The WAS-related disorders, which include Wiskott-Aldrich syndrome, X-linked thrombocytopenia (XLT), and X-linked congenital neutropenia (XLN), are a spectrum of disorders of hematopoietic cells, with predominant defects of platelets and lymphocytes caused by pathogenic variants in WAS. WAS-related disorders usually present in infancy. Affected males have thrombocytopenia with intermittent mucosal bleeding, bloody diarrhea, and intermittent or chronic petechiae and purpura; eczema; and recurrent bacterial and viral infections, particularly of the ear. At least 40% of those who survive the early complications develop one or more autoimmune conditions including hemolytic anemia, immune thrombocytopenic purpura, immune-mediated neutropenia, rheumatoid arthritis, vasculitis, and immune-mediated damage to the kidneys and liver. Individuals with a WAS-related disorder, particularly those who have been exposed to Epstein-Barr virus (EBV), are at increased risk of developing lymphomas, which often occur in unusual, extranodal locations including the brain, lung, or gastrointestinal tract. Males with XLT have thrombocytopenia with small platelets; other complications of Wiskott-Aldrich syndrome, including eczema and immune dysfunction, are usually mild or absent. Males with XLN have congenital neutropenia, myeloid dysplasia, and lymphoid cell abnormalities.|GeneReviews|N|
C0043195|A rheumatic syndrome of possibly allergic origin, usually affecting children and adolescents, and characterized by high fever, exanthema, arthralgia, leukocytosis, and increased sedimentation rate.|MONDO|N|
C0043202|Wolff-Parkinson-White syndrome is a condition characterized by abnormal electrical pathways in the heart that cause a disruption of the heart's normal rhythm (arrhythmia).\n\nThe heartbeat is controlled by electrical signals that move through the heart in a highly coordinated way.  A specialized cluster of cells called the atrioventricular node conducts electrical impulses from the heart's upper chambers (the atria) to the lower chambers (the ventricles).  Impulses move through the atrioventricular node during each heartbeat, stimulating the ventricles to contract slightly later than the atria.\n\nPeople with Wolff-Parkinson-White syndrome are born with an extra connection in the heart, called an accessory pathway, that allows electrical signals to bypass the atrioventricular node and move from the atria to the ventricles faster than usual.  The accessory pathway may also transmit electrical impulses abnormally from the ventricles back to the atria.  This extra connection can disrupt the coordinated movement of electrical signals through the heart, leading to an abnormally fast heartbeat (tachycardia) and other changes in heart rhythm.  Resulting symptoms include dizziness, a sensation of fluttering or pounding in the chest (palpitations), shortness of breath, and fainting (syncope).  In rare cases, arrhythmias associated with Wolff-Parkinson-White syndrome can lead to cardiac arrest and sudden death.  The most common arrhythmia associated with Wolff-Parkinson-White syndrome is called paroxysmal supraventricular tachycardia.\n\nComplications of Wolff-Parkinson-White syndrome can occur at any age, although some individuals born with an accessory pathway in the heart never experience any health problems associated with the condition.\n\nWolff-Parkinson-White syndrome often occurs with other structural abnormalities of the heart or underlying heart disease.  The most common heart defect associated with the condition is Ebstein anomaly, which affects the valve that allows blood to flow from the right atrium to the right ventricle (the tricuspid valve). Additionally, the heart rhythm problems associated with Wolff-Parkinson-White syndrome can be a component of several other genetic syndromes, including hypokalemic periodic paralysis (a condition that causes episodes of extreme muscle weakness), Pompe disease (a disorder characterized by the storage of excess glycogen), Danon disease (a condition that weakens the heart and skeletal muscles and causes intellectual disability), and tuberous sclerosis complex (a condition that results in the growth of noncancerous tumors in many parts of the body).|MedlinePlus Genetics|N|
C0043207|WFS1 Wolfram syndrome spectrum disorder (WFS1-WSSD) is a progressive neurodegenerative disorder characterized by onset of diabetes mellitus (DM) and optic atrophy (OA) before age 16 years, and typically associated with other endocrine abnormalities, sensorineural hearing loss, and progressive neurologic abnormalities (cerebellar ataxia, peripheral neuropathy, dementia, psychiatric illness, and urinary tract atony). Although DM is mostly insulin-dependent, overall the course is milder (with lower prevalence of microvascular disease) than that seen in isolated DM. OA typically results in significantly reduced visual acuity in the first decade. Sensorineural hearing impairment ranges from congenital deafness to milder, sometimes progressive, hearing impairment.|GeneReviews|N|
C0043208|Deficiency of lysosomal acid lipase causes 2 distinct phenotypes in humans: Wolman disease (WOLD) and cholesteryl ester storage disease (CESD; 278000). WOLD is an early-onset fulminant disorder of infancy with massive infiltration of the liver, spleen, and other organs by macrophages filled with cholesteryl esters and triglycerides. Death occurs early in life. CESD is a milder, later-onset disorder with primary hepatic involvement by macrophages engorged with cholesteryl esters. This slowly progressive visceral disease has a wide spectrum of involvement ranging from early onset with severe cirrhosis to later onset of more slowly progressive hepatic disease with survival into adulthood (summary by Du et al., 2001).|OMIM|N|
C0043241|Infection of a break in the skin or other tissue.|NCI|N|
C0043322|A rare, systemic disease characterized by normolipidemic mucocutaneous xanthomatosis with histiocytic cells proliferation and secondary deposition of lipid in the dermis. Clinically, multiple, grouped, coalescent, yellowish red to brown papulonodular lesions in the skin and mucous membranes are present. Less often internal organs are affected, in particular pituitary gland and/or hypothalamus. Patients present with characteristic mucocutaneous lesions, diabetes insipidus, dysphagia, dyspnea, hoarseness of voice, and blurred vision.|ORDO|N|
C0043324|Juvenile xanthogranuloma is the most common type of non-Langerhans cell histiocytosis (see this term) characterized by the occurrence of one or more reddish or yellowish self-limiting and benign papules or nodules of several millimeters in diameter, usually appearing on the head and neck (but sometimes on the extremities and trunk) during the first year of life (or rarely in adulthood) and usually regressing spontaneously. Extracutaneous involvement has also been reported, involving most commonly the eye (uveal tract) but with other locations including the central nervous system, lung, liver, bones and endocrine glands, and may be associated with considerable morbidity.|ORDO|N|
C0043325|The presence of multiple xanthomas (xanthomata) in the skin. Xanthomas are yellowish, firm, lipid-laden nodules in the skin.|HPO|N|
C0043345|A non-neoplastic disorder characterized by abnormally dry skin. Causes include vitamin A deficiency, sunlight exposure, medications, metabolic disorders, autoimmune disorders, and hereditary genetic disorders.|NCI|N|
C0043346|Xeroderma pigmentosum (XP) is characterized by: Acute sun sensitivity (severe sunburn with blistering, persistent erythema on minimal sun exposure) with marked freckle-like pigmentation of the face before age two years; Sunlight-induced ocular involvement (photophobia, severe keratitis, atrophy of the skin of the lids, ocular surface neoplasms); Greatly increased risk of sunlight-induced cutaneous neoplasms (basal cell carcinoma, squamous cell carcinoma, melanoma) within the first decade of life. Approximately 25% of affected individuals have neurologic manifestations (acquired microcephaly, diminished or absent deep tendon stretch reflexes, progressive sensorineural hearing loss, progressive cognitive impairment, and ataxia). The most common causes of death are skin cancer, neurologic degeneration, and internal cancer. The median age at death in persons with XP with neurodegeneration (29 years) was found to be younger than that in persons with XP without neurodegeneration (37 years).|GeneReviews|N|
C0043349|Dryness of the eye due to inadequate production of tears. Causes include vitamin A deficiency, Sjogren syndrome, rheumatoid arthritis, systemic lupus erythematosus, and scleroderma.|NCI|N|
C0043352|Dryness of the mouth due to salivary gland dysfunction.|HPO|N|
C0043379|An abnormal sex chromosome karyotype where the individual has one X chromosome and has two copies of the Y chromosome. The normal autosomal karyotype is present.|NCI|N|
C0043387|An involuntary deep inhalation with the mouth open, often a sign of drowsiness or boredom.|NCI|N|
C0043388|An endemic, infectious, nonvenereal disease in humans that presents mainly in children younger than 15 years. The disease occurs primarily in warm, humid, tropical areas of Africa, Asia, South America, and Oceania, among poor rural populations where conditions of overcrowding and poor sanitation prevail. Infection with Treponema pertenue, a subspecies of Treponema pallidum, causes the disease.|NCI|N|
C0043395|Yellow fever (YF), caused by YF virus, is a zoonotic disease characterized by fever and constitutional symptoms, with the potential to progress to severe and fatal viral hemorrhagic fever with shock and multi-organ system failure.|ORDO|N|
C0043407|An infection that is caused by Yersinia enterocolitica or Yersinia pseudotuberculosis, and that is usually acquired by consumption of contaminated meat, water, or unpasteurized milk. It can also be transmitted vertically, pre- or perinatally, from mother to infant. Manifestation of symptoms depends on the infecting species and mode of acquisition, and can range from gastrointestinal syndromes to septicemia.|NCI|N|
C0043410|Infections with bacteria of the species yersinia pseudotuberculosis.|MONDO|N|
C0043459|Zellweger syndrome is an autosomal recessive systemic disorder characterized clinically by severe neurologic dysfunction, craniofacial abnormalities, and liver dysfunction, and biochemically by the absence of peroxisomes. Most severely affected individuals with classic Zellweger syndrome phenotype die within the first year of life (summary by Wanders, 2004).
'Zellweger syndrome' is the prototype of a large group of peroxisomal disorders, which can be classified into 2 main groups: (1) disorders of peroxisome biogenesis and (2) single peroxisomal enzyme deficiencies (see 264470). The peroxisome biogenesis disorders (PBDs) fall into 4 main phenotypic classes. Three of them, Zellweger syndrome, neonatal adrenoleukodystrophy (NALD), and infantile Refsum disease (IRD), have multiple complementation groups and form a spectrum of overlapping features, with the most severe being the Zellweger syndrome and the least severe infantile Refsum disease. The fourth group, rhizomelic chondrodysplasia punctata (RCDP1; 215100), is a distinct PBD phenotype (summary by Moser et al., 1995, Wanders, 2004).
Heimler syndrome, a rare autosomal recessive disorder encompassing sensorineural hearing loss, enamel hypoplasia of the secondary dentition, and nail abnormalities, represents a discrete phenotypic entity at the mildest end of the PBD spectrum (Ratbi et al., 2015).
Genetic Heterogeneity of Zellweger Syndrome
Zellweger syndrome (denoted by the suffix 'A' in the symbol) is a genetically heterogeneous disorder and can be caused by mutation in any one of several genes, known as pexins, involved in peroxisome biogenesis. The pexin (PEX) genes encode proteins essential for the assembly of functional peroxisomes (summary by Distel et al., 1996). Forms of Zellweger syndrome include PBD1A, caused by mutation in the PEX1 gene on chromosome 7q21; PBD2A (214110), caused by mutation in the PEX5 (600414) gene on chromosome 12p13; PBD3A (614859), caused by mutation in the PEX12 (601758) gene on chromosome 17; PBD4A (614862), caused by mutation in the PEX6 (601498) gene on chromosome 6p21; PBD5A (614866), caused by mutation in the PEX2 (170993) gene on chromosome 8q21; PBD6A (614870), caused by mutation in the PEX10 (602859) gene on chromosome 1p36; PBD7A (614872), caused by mutation in the PEX26 (608666) gene on chromosome 22q11; PBD8A (614876), caused by mutation in the PEX16 (603360) gene on chromosome 11p12; PBD10A (614882), caused by mutation in the PEX3 (603164) gene on chromosome 6q23-q24; PBD11A (614883), caused by mutation in the PEX13 (601789) gene on chromosome 2p15; PBD12A (614886), caused by mutation in the PEX19 (600279) gene on chromosome 1q22; and PBD13A (614887), caused by mutation in the PEX14 gene (601791) on chromosome 1p36.2.
Mutation in the pexin genes also causes the less severe phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD); see PBD1B (601539) for a phenotypic description and discussion of genetic heterogeneity of these PBDs.
Heimler syndrome-1 (HMLR1; 234580) and -2 (HMLR2; 616617) are caused by mutation in the PEX1 and PEX6 genes, respectively.
The rhizomelic chondrodysplasia subtype of PBD (RCDP1, PBD9; 215100), and a PBD without rhizomelia (PBD9B; 614879), are caused by mutation in the PEX7 gene (601757) on chromosome 6q22-q24.
In addition to the defects in peroxisome assembly, Distel et al. (1996) noted that peroxisomal disorders include a number of single peroxisomal enzyme deficiencies: X-linked adrenoleukodystrophy (ALD; 300100), acyl-coenzyme A oxidase deficiency (264470), DHAPAT deficiency (222765), alkyl-DHAP synthase deficiency (600121), glutaric aciduria type III (231690), classic Refsum disease (266500), hyperoxaluria type I (259900), and acatalasia (115500). A peroxisomal and mitochondrial fission defect results in a lethal encephalopathy (EMPF; 614388).|OMIM|N|
C0043515|A condition in which there is increased production of gastrin by a gastrin-secreting tumor (usually located in the pancreas, duodenum, or abdominal lymph nodes) that stimulates the gastric mucosa to maximal activity, with consequent gastrointestinal mucosal ulceration.|HPO|N|
C0043528|Infection by an etiologic agent that can be passed between animals and humans.|NCI|N|
C0043541|A rare mycosis caused by ubiquitous, opportunistic fungi of the order Mucorales, characterized by tissue infarction and necrosis due to invasion of the vasculature by hyphae. The spectrum of clinical manifestations depends on the route of infection and includes rhinocerebral, pulmonary, cutaneous, gastrointestinal, renal, and disseminated forms. The disease is usually rapidly progressive and associated with high mortality.|ORDO|N|
C0048897|A cofactor that is essential for the activity of aromatic amino acid hydroxylases. Tetrahydrobiopterin degrades phenylalanine, and facilitates the biosynthesis of several neurotransmitters and the production of nitric oxide.|NCI|N|
C0057144|A semi-synthetic cyclic lipopeptide antibiotic isolated form the bacterium Streptomyces roseosporus with broad-spectrum antibiotic activity against Gram-positive bacteria. Daptomycin has a distinct mechanism of action, in which it binds to bacterial membrane and causes rapid depolarization of the cell membrane due to calcium-dependant potassium efflux; the loss of membrane potential leads to inhibition of DNA, RNA and protein synthesis, resulting in bacterial cell death. This agent does not penetrate the outer membrane of gram-negative bacteria.|NCI|N|
C0062251|Normal adult hemoglobin is composed of two chains each of alpha and beta globin. Hb Barts (Hemoglobin Barts) is a tetramer with four gamma globin chains, and is essentially pathognomonic for one or another form of alpha thalassemia. Hb Barts has an extremely high affinity for oxygen, resulting in almost no oxygen delivery to the tissues.|HPO|N|
C0078888|An electrocardiographic finding of idioventricular rhythm with a rate greater than 50 beats per minute. (CDISC)|NCI|N|
C0078911|Renal disease in human immunodeficiency virus (HIV)-infected patients. It is characterized by nephrotic syndrome, azotemia, normal to large kidneys on ultrasound images, and focal segmental glomerulosclerosis on renal biopsy findings.|NCI|N|
C0078917|An abnormal reduction in the amount of pigmentation (reduced or absent) of the iris and retina.|HPO|N|
C0078918|Researchers have identified multiple types of oculocutaneous albinism, which are distinguished by their specific skin, hair, and eye color changes and by their genetic cause. Oculocutaneous albinism type 1 is characterized by white hair, very pale skin, and light-colored irises. Type 2 is typically less severe than type 1; the skin is usually a creamy white color and hair may be light yellow, blond, or light brown. Type 3 includes a form of albinism called rufous oculocutaneous albinism, which usually affects dark-skinned people. Affected individuals have reddish-brown skin, ginger or red hair, and hazel or brown irises. Type 3 is often associated with milder vision abnormalities than the other forms of oculocutaneous albinism. Type 4 has signs and symptoms similar to those seen with type 2.\n\nOculocutaneous albinism is a group of conditions that affect coloring (pigmentation) of the skin, hair, and eyes. Affected individuals typically have very fair skin and white or light-colored hair. Long-term sun exposure greatly increases the risk of skin damage and skin cancers, including an aggressive form of skin cancer called melanoma, in people with this condition. Oculocutaneous albinism also reduces pigmentation of the colored part of the eye (the iris) and the light-sensitive tissue at the back of the eye (the retina). People with this condition usually have vision problems such as reduced sharpness; rapid, involuntary eye movements (nystagmus); and increased sensitivity to light (photophobia).\n\nSeveral additional types of this disorder have been proposed, each affecting one or a few families.|MedlinePlus Genetics|N|
C0078981|An extra-parenchymal and intra-arachnoidal collection of fluid with a composition similar to that of cerebrospinal fluid.|HPO|N|
C0078982|A defect of development of the brain characterized by congenital absence of the part of the brain that includes the olfactory bulbs, tracts, and other structures associated with the sense of smell.|HPO|N|
C0079027|Uncontrolled bleeding during a surgical procedure.|NCI|N|
C0079037|A congenital defect in the neck that occurs during early embryonic development. It is caused by developmental abnormalities of the pharyngeal arches and results in the development of a cyst or a fissure in the side of the neck.|NCI|N|
C0079043|Tightening of smooth muscle surrounding the bronchi and bronchioles with consequent wheezing and shortness of breath.|HPO|N|
C0079153|Epidermolytic hyperkeratosis is a skin disorder that is present at birth. Affected babies may have very red skin (erythroderma) and severe blisters. Because newborns with this disorder are missing the protection provided by normal skin, they are at risk of becoming dehydrated and developing infections in the skin or throughout the body (sepsis).\n\nAs affected individuals get older, blistering is less frequent, erythroderma becomes less evident, and the skin becomes thick (hyperkeratotic), especially over joints, on areas of skin that come into contact with each other, or on the scalp or neck. This thickened skin is usually darker than normal. Bacteria can grow in the thick skin, often causing a distinct odor.\n\nEpidermolytic hyperkeratosis can be categorized into two types. People with PS-type epidermolytic hyperkeratosis have thick skin on the palms of their hands and soles of their feet (palmoplantar or palm/sole hyperkeratosis) in addition to other areas of the body. People with the other type, NPS-type, do not have extensive palmoplantar hyperkeratosis but do have hyperkeratosis on other areas of the body.\n\nEpidermolytic hyperkeratosis is part of a group of conditions called ichthyoses, which refers to the scaly skin seen in individuals with related disorders. However, in epidermolytic hyperkeratosis, the skin is thick but not scaly as in some of the other conditions in the group.|MedlinePlus Genetics|N|
C0079154|The term collodion baby applies to newborns who appear to have an extra layer of skin (known as a collodion membrane) that has a collodion-like quality. It is a descriptive term, not a specific diagnosis or disorder (as such, it is a syndrome). Affected babies are born in a collodion membrane, a shiny waxy outer layer to the skin. This is shed 10-14 days after birth, revealing the main symptom of the disease, extensive scaling of the skin caused by hyperkeratosis. With increasing age, the scaling tends to be concentrated around joints in areas such as the groin, the armpits, the inside of the elbow and the neck. The scales often tile the skin and may resemble fish scales.|HPO|N|
C0079173|A disorder that affects the muscles of head and neck and temporomandibular joint.|NCI|N|
C0079218|Benign, slow-growing tumors without any metastatic potential. Despite their benign nature, they can damage nearby structures causing organ dysfunction. Histologically they resemble low-grade fibrosarcomas, but they are very locally aggressive and tend to recur even after complete resection. There is a tendency for recurrence in the setting of prior surgery and the most common localisation of these tumors is intraabdominal from smooth muscle cells of the instestine.|HPO|N|
C0079238|An abnormal communication between any part of the digestive system and another organ or cavity.|NCI|N|
C0079291|Sources of danger in the surroundings|NANDA-I|N|
C0079293|A rare, chronic, incurable, sub epithelial autoimmune bullous disease characterized by the presence of tissue bound autoantibodies against type VII collagen within the basement membrane zone of the dermal-epidermal junction of stratified squamous epithelia. The patient's serum may also have anti-type VII collagen autoantibodies. The clinical presentation is varied, and may involve the skin, oral mucosa and the upper third of the esophagus. The classical presentation is reminiscent of hereditary dystrophic epidermolysis bullosa (EB) with skin fragility, blisters and erosions and skin scarring. Other non-classical clinical presentations include an inflammatory bullous pemphigoid-like eruption, a mucous membrane pemphigoid-like eruption, and an IgA bullous dermatosis-like disease.|ORDO|N|
C0079294|Dystrophic epidermolysis bullosa (DEB) is a genetic skin disorder affecting skin and nails that usually presents at birth. DEB is divided into two major types depending on inheritance pattern: recessive dystrophic epidermolysis bullosa (RDEB) and dominant dystrophic epidermolysis bullosa (DDEB). Each type is further divided into multiple clinical subtypes. Absence of a known family history of DEB does not preclude the diagnosis. Clinical findings in severe generalized RDEB include skin fragility manifest by blistering with minimal trauma that heals with milia and scarring. Blistering and erosions affecting the whole body may be present in the neonatal period. Oral involvement may lead to mouth blistering, fusion of the tongue to the floor of the mouth, and progressive diminution of the size of the oral cavity. Esophageal erosions can lead to webs and strictures that can cause severe dysphagia. Consequently, malnutrition and vitamin and mineral deficiency may lead to growth restriction in young children. Corneal erosions can lead to scarring and loss of vision. Blistering of the hands and feet followed by scarring fuses the digits into "mitten" hands and feet, with contractures and pseudosyndactyly. The lifetime risk of aggressive squamous cell carcinoma is higher than 90%. In contrast, the blistering in the less severe forms of RDEB may be localized to hands, feet, knees, and elbows with or without involvement of flexural areas and the trunk, and without the mutilating scarring seen in severe generalized RDEB. In DDEB, blistering is often mild and limited to hands, feet, knees, and elbows, but nonetheless heals with scarring. Dystrophic nails, especially toenails, are common and may be the only manifestation of DDEB.|GeneReviews|N|
C0079295|Epidermolysis bullosa simplex (EBS) is characterized by fragility of the skin (and mucosal epithelia in some instances) that results in non-scarring blisters and erosions caused by minor mechanical trauma. EBS is distinguished from other types of epidermolysis bullosa (EB) or non-EB skin fragility syndromes by the location of the blistering in relation to the dermal-epidermal junction. In EBS, blistering occurs within basal keratinocytes. The severity of blistering ranges from limited to hands and feet to widespread involvement. Additional features can include hyperkeratosis of the palms and soles (keratoderma), nail dystrophy, milia, and hyper- and/or hypopigmentation. Rare EBS subtypes have been associated with additional clinical features including pyloric atresia, muscular dystrophy, cardiomyopathy, and/or nephropathy.|GeneReviews|N|
C0079298|Epidermolysis bullosa simplex (EBS) is characterized by fragility of the skin (and mucosal epithelia in some instances) that results in non-scarring blisters and erosions caused by minor mechanical trauma. EBS is distinguished from other types of epidermolysis bullosa (EB) or non-EB skin fragility syndromes by the location of the blistering in relation to the dermal-epidermal junction. In EBS, blistering occurs within basal keratinocytes. The severity of blistering ranges from limited to hands and feet to widespread involvement. Additional features can include hyperkeratosis of the palms and soles (keratoderma), nail dystrophy, milia, and hyper- and/or hypopigmentation. Rare EBS subtypes have been associated with additional clinical features including pyloric atresia, muscular dystrophy, cardiomyopathy, and/or nephropathy.|GeneReviews|N|
C0079299|Non-Dowling-Meara generalized epidermolysis bullosa simplex, formerly known as epidermolysis bullosa simplex, Köbner type (EBS-K) is a generalized basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by non-herpetiform blisters and erosions arising in particular at sites of friction.|ORPHANET|N|
C0079301|Junctional epidermolysis bullosa (JEB) is characterized by fragility of the skin and mucous membranes, manifest by blistering with little or no trauma. Blistering may be severe and granulation tissue can form on the skin around the oral and nasal cavities, fingers and toes, and internally around the upper airway. Blisters generally heal with no significant scarring. Broad classification of JEB includes JEB generalized severe and JEB generalized intermediate. In JEB generalized severe, blisters are present at birth or become apparent in the neonatal period. Congenital malformations of the urinary tract and bladder may also occur. In JEB generalized intermediate, the phenotype may be mild with blistering localized to hands, feet, knees, and elbows with or without renal or ureteral involvement. Some individuals never blister after the newborn period. Additional features shared by JEB and the other major forms of epidermolysis bullosa (EB) include congenital localized absence of skin (aplasia cutis congenita), milia, nail dystrophy, scarring alopecia, hypotrichosis, pseudosyndactyly, and other contractures.|GeneReviews|N|
C0079335|Acquired defect of cellular immunity that occurs in cats infected with feline immunodeficiency virus (FIV) and in some cats infected with feline leukemia virus (FeLV).|MSH|N|
C0079352|A congenital form of torticollis resulting from shortening of the sternocleidomastoid muscle and leading to a limited range of motion in both rotation and lateral bending.|HPO|N|
C0079380|A mutation occurring within the protein-coding region of a gene which results in a shift in the reading frame of the encoded protein. Frameshift mutations often result in the premature truncation of a gene product.|NCI|N|
C0079474|Dystrophic epidermolysis bullosa (DEB) is a genetic skin disorder affecting skin and nails that usually presents at birth. DEB is divided into two major types depending on inheritance pattern: recessive dystrophic epidermolysis bullosa (RDEB) and dominant dystrophic epidermolysis bullosa (DDEB). Each type is further divided into multiple clinical subtypes. Absence of a known family history of DEB does not preclude the diagnosis. Clinical findings in severe generalized RDEB include skin fragility manifest by blistering with minimal trauma that heals with milia and scarring. Blistering and erosions affecting the whole body may be present in the neonatal period. Oral involvement may lead to mouth blistering, fusion of the tongue to the floor of the mouth, and progressive diminution of the size of the oral cavity. Esophageal erosions can lead to webs and strictures that can cause severe dysphagia. Consequently, malnutrition and vitamin and mineral deficiency may lead to growth restriction in young children. Corneal erosions can lead to scarring and loss of vision. Blistering of the hands and feet followed by scarring fuses the digits into "mitten" hands and feet, with contractures and pseudosyndactyly. The lifetime risk of aggressive squamous cell carcinoma is higher than 90%. In contrast, the blistering in the less severe forms of RDEB may be localized to hands, feet, knees, and elbows with or without involvement of flexural areas and the trunk, and without the mutilating scarring seen in severe generalized RDEB. In DDEB, blistering is often mild and limited to hands, feet, knees, and elbows, but nonetheless heals with scarring. Dystrophic nails, especially toenails, are common and may be the only manifestation of DDEB.|GeneReviews|N|
C0079485|Downward displacement of any one of the HEART VALVES from its normal position. This usually results in failed valve closure.|MSH|N|
C0079487|Infections with organisms of the genus HELICOBACTER, particularly, in humans, HELICOBACTER PYLORI. The clinical manifestations are focused in the stomach, usually the gastric mucosa and antrum, and the upper duodenum. This infection plays a major role in the pathogenesis of type B gastritis and peptic ulcer disease.|MSH|N|
C0079504|Hermansky-Pudlak syndrome (HPS) is characterized by oculocutaneous albinism, a bleeding diathesis, and, in some individuals, pulmonary fibrosis, granulomatous colitis, or immunodeficiency. Ocular findings include reduced iris pigment with iris transillumination, reduced retinal pigment, foveal hypoplasia with significant reduction in visual acuity (usually in the range of 20/50 to 20/400), nystagmus, and increased crossing of the optic nerve fibers. Hair color ranges from white to brown; skin color ranges from white to olive and is usually a shade lighter than that of other family members. The bleeding diathesis can result in variable bruising, epistaxis, gingival bleeding, postpartum hemorrhage, colonic bleeding, and prolonged bleeding with menses or after tooth extraction, circumcision, and other surgeries. Pulmonary fibrosis, a restrictive lung disease, typically causes symptoms in the early thirties and can progress to death within a decade. Granulomatous colitis is severe in about 15% of affected individuals. Neutropenia and/or immune defects occur primarily in individuals with pathogenic variants in AP3B1 and AP3D1.|GeneReviews|N|
C0079541|Nonsyndromic holoprosencephaly is an abnormality of brain development that also affects the head and face. Normally, the brain divides into two halves (hemispheres) during early development. Holoprosencephaly occurs when the brain fails to divide properly into the right and left hemispheres. This condition is called nonsyndromic to distinguish it from other types of holoprosencephaly caused by genetic syndromes, chromosome abnormalities, or substances that cause birth defects (teratogens). The severity of nonsyndromic holoprosencephaly varies widely among affected individuals, even within the same family.\n\nNonsyndromic holoprosencephaly can be grouped into four types according to the degree of brain division. From most to least severe, the types are known as alobar, semi-lobar, lobar, and middle interhemispheric variant (MIHV). In the most severe forms of nonsyndromic holoprosencephaly, the brain does not divide at all. These affected individuals have one central eye (cyclopia) and a tubular nasal structure (proboscis) located above the eye. Most babies with severe nonsyndromic holoprosencephaly die before birth or soon after. In the less severe forms, the brain is partially divided and the eyes are usually set close together (hypotelorism). The life expectancy of these affected individuals varies depending on the severity of symptoms.\n\nPeople with nonsyndromic holoprosencephaly often have a small head (microcephaly), although they can develop a buildup of fluid in the brain (hydrocephalus) that causes increased head size (macrocephaly). Other features may include an opening in the roof of the mouth (cleft palate) with or without a split in the upper lip (cleft lip), one central front tooth instead of two (a single maxillary central incisor), and a flat nasal bridge. The eyeballs may be abnormally small (microphthalmia) or absent (anophthalmia).\n\nSome individuals with nonsyndromic holoprosencephaly have a distinctive pattern of facial features, including a narrowing of the head at the temples, outside corners of the eyes that point upward (upslanting palpebral fissures), large ears, a short nose with upturned nostrils, and a broad and deep space between the nose and mouth (philtrum). In general, the severity of facial features is directly related to the severity of the brain abnormalities. However, individuals with mildly affected facial features can have severe brain abnormalities. Some people do not have apparent structural brain abnormalities but have some of the facial features associated with this condition. These individuals are considered to have a form of the disorder known as microform holoprosencephaly and are typically identified after the birth of a severely affected family member.\n\nMost people with nonsyndromic holoprosencephaly have developmental delay and intellectual disability. Affected individuals also frequently have a malfunctioning pituitary gland, which is a gland located at the base of the brain that produces several hormones. Because pituitary dysfunction leads to the partial or complete absence of these hormones, it can cause a variety of disorders. Most commonly, people with nonsyndromic holoprosencephaly and pituitary dysfunction develop diabetes insipidus, a condition that disrupts the balance between fluid intake and urine excretion. Dysfunction in other parts of the brain can cause seizures, feeding difficulties, and problems regulating body temperature, heart rate, and breathing. The sense of smell may be diminished (hyposmia) or completely absent (anosmia) if the part of the brain that processes smells is underdeveloped or missing.|MedlinePlus Genetics|N|
C0079583|An ichthyosiform abnormality of the skin with congenital onset.|HPO|N|
C0079584|The phenotypic characteristics of ichthyosis vulgaris include palmar hyperlinearity, keratosis pilaris, and a fine scale that is most prominent over the lower abdomen, arms, and legs. Marked presentation includes prominent scaling, whereas mild presentation consists of palmar hyperlinearity, keratosis pilaris, and, in some cases, fine scaling (summary by Smith et al., 2006).|OMIM|N|
C0079588|X-linked ichthyosis is clinically characterized by widespread, dark brown, polygonal scales and generalized dryness. Cutaneous manifestations are present soon after birth and usually do not improve with age. The histopathology of XLI typically shows compact hyperkeratosis and slight acanthosis with a normal granular layer (summary by Takeichi and Akiyama, 2016).
X-linked ichthyosis is fundamentally the same disorder as placental steroid sulfatase deficiency, which is often first noted in the pregnant mother of affected males by decreased estrogen or delayed progression of parturition (Alperin and Shapiro, 1997). This is thus an example of affinity ('lumping') of phenotypes thought previously to be separate, the opposite of genetic heterogeneity.
Schnyder (1970) gave a useful classification of the inherited ichthyoses.
Hernandez-Martin et al. (1999) provided a comprehensive review of X-linked ichthyosis. They pointed out that among all genetic disorders X-linked ichthyosis shows one of the highest ratios of chromosomal deletions; complete deletion has been found in up to 90% of patients.
Takeichi and Akiyama (2016) reviewed inherited nonsyndromic forms of ichthyosis.|OMIM|N|
C0079661|Waardenburg syndrome type 3 is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes; congenital sensorineural hearing loss; presence of 'dystopia canthorum,' the lateral displacement of the ocular inner canthi; and upper limb abnormalities (reviews by Read and Newton, 1997 and Pingault et al., 2010). WS type 3 is also referred to as 'Klein-Waardenburg syndrome' (Gorlin et al., 1976).
Clinical Variability of Waardenburg Syndrome Types 1-4
Waardenburg syndrome has been classified into 4 main phenotypes. Type I Waardenburg syndrome (WS1; 193500) is characterized by pigmentary abnormalities of the hair, including a white forelock and premature graying; pigmentary changes of the iris, such as heterochromia iridis and brilliant blue eyes; congenital sensorineural hearing loss; and 'dystopia canthorum.' WS type II (WS2) is distinguished from type I by the absence of dystopia canthorum. WS type III has dystopia canthorum and is distinguished by the presence of upper limb abnormalities. WS type IV (WS4; 277580), also known as Waardenburg-Shah syndrome, has the additional feature of Hirschsprung disease (reviews by Read and Newton, 1997 and Pingault et al., 2010).|OMIM|N|
C0079680|Virus diseases caused by the Lentivirus genus. They are multi-organ diseases characterized by long incubation periods and persistent infection.|MONDO|N|
C0079683|Junctional epidermolysis bullosa (JEB) is characterized by fragility of the skin and mucous membranes, manifest by blistering with little or no trauma. Blistering may be severe and granulation tissue can form on the skin around the oral and nasal cavities, fingers and toes, and internally around the upper airway. Blisters generally heal with no significant scarring. Broad classification of JEB includes JEB generalized severe and JEB generalized intermediate. In JEB generalized severe, blisters are present at birth or become apparent in the neonatal period. Congenital malformations of the urinary tract and bladder may also occur. In JEB generalized intermediate, the phenotype may be mild with blistering localized to hands, feet, knees, and elbows with or without renal or ureteral involvement. Some individuals never blister after the newborn period. Additional features shared by JEB and the other major forms of epidermolysis bullosa (EB) include congenital localized absence of skin (aplasia cutis congenita), milia, nail dystrophy, scarring alopecia, hypotrichosis, pseudosyndactyly, and other contractures.|GeneReviews|N|
C0079731|A type of lymphoma that originates in B-cells.|HPO|N|
C0079741|An antiquated term that refers to a non-Hodgkin lymphoma with intermediate grade histologic features.|NCI|N|
C0079744|Diffuse large B-cell lymphoma is the most common subtype of non-Hodgkin lymphoma (NHL; see this term) in adults characterized by a median age of presentation in the sixth decade of life (but also rarely occurring in adolescents and children) with the initial presentation being single or multiple rapidly growing masses (that may or may not be painful) in nodal or extranodal sites (such as thyroid, skin, breast, gastrointestinal tract, testes, bone, or brain) and that can be accompanied by symptoms of fever, night sweats and weight loss. DLBCL has an aggressive disease course, with the elderly having a poorer prognosis than younger patients, and with relapses being common.|ORDO|N|
C0079745|An antiquated term that refers to a follicular non-Hodgkin lymphoma composed predominantly of large B-lymphocytes.|NCI|N|
C0079746|A diffuse large B-cell lymphoma characterized by the presence of immunoblasts with uniformly round-to-oval nuclei, a prominent nucleolus, and abundant cytoplasm.|NCI|N|
C0079747|An antiquated term that refers to a non-Hodgkin lymphoma with low grade histologic features.|NCI|N|
C0079748|A lymphoma composed of immature small to medium-sized precursor lymphoid cells (lymphoblasts). It includes the B- and T-cell lymphoblastic lymphoma.|NCI|N|
C0079757|An antiquated term referring to non-Hodgkin lymphomas with a mixed cellular composition. This term applies to both B- and T- cell non-Hodgkin lymphomas.|NCI|N|
C0079758|A follicular lymphoma which contains 6-15 centroblasts per 40X high-power microscopic field.|NCI|N|
C0079765|A low-grade malignant lymphoma of predominantly follicular pattern. Follicles are of relatively uniform size and shape and the cells are usually somewhat larger than normal lymphocytes. Nuclei are irregular with prominent indentations and cytoplasm can rarely be identified. Cells exhibiting these characteristics are often called centrocytes.|MSH|N|
C0079772|A type of lymphoma that originates in T-cells.|HPO|N|
C0079773|A type of T-cell lymphoma that exhibits malignant infiltration of the skin.|HPO|N|
C0079774|An extremely rare, primary cutaneous T-cell lymphoma disorder characterized by solitary, or multifocal and diffuse, cutaneous lesions, ranging from tumor-like patches, plaques, papules, nodules, and/or erythroderma, located on any area of the body, which rapidly progress and may become ulcerated and/or infected. Systemic involvement may be associated.|ORDO|N|
C0079840|Allergic reaction to milk (usually cow''s milk) or milk products. MILK HYPERSENSITIVITY should be differentiated from LACTOSE INTOLERANCE, an intolerance to milk as a result of congenital deficiency of lactase.|MSH|N|
C0079866|Process of generating a genetic MUTATION. It may occur spontaneously or be induced by MUTAGENS.|MSH|N|
C0079924|Diminished amniotic fluid volume in pregnancy.|HPO|N|
C0079943|An abnormal passage within the mouth communicating between two or more anatomical structures.|MSH|N|
C0080024|Piebaldism is a rare autosomal dominant trait characterized by the congenital absence of melanocytes in affected areas of the skin and hair. A white forelock of hair, often triangular in shape, may be the only manifestation, or both the hair and the underlying forehead may be involved. The eyebrows and eyelashes may be affected. Irregularly shaped white patches may be observed on the face, trunk, and extremities, usually in a symmetrical distribution. Typically, islands of hyperpigmentation are present within and at the border of depigmented areas (summary by Thomas et al., 2004).|OMIM|N|
C0080032|A collection of fluid in the pleural cavity resulting from malignant disease. Malignant pleural effusions often contain free-floating malignant cells.|NCI|N|
C0080040|Postpoliomyelitis syndrome (PPS) is a neurologic disorder characterized by the development of new neuromuscular symptoms such as progressive muscular weakness or abnormal muscle fatigability occurring in survivors of the acute paralytic form of poliomyelitis (see this term), 15-40 years after recovery from the disease, and that is unexplained by other medical causes. Other manifestations that can occur gradually include generalized fatigue, muscle atrophy, muscle and joint pain, intolerance to cold, and difficulties sleeping, swallowing or breathing.|ORDO|N|
C0080048|The quality of being secluded from the presence or view of others; the condition of being concealed or hidden; the ability of a person to control the availability of information about and exposure of him- or herself.|NCI|N|
C0080107|An abnormal passage communicating between any component of the respiratory tract or between any part of the respiratory system and surrounding organs.|MSH|N|
C0080151|Acquired defect of cellular immunity that occurs naturally in macaques infected with SRV serotypes, experimentally in monkeys inoculated with SRV or MASON-PFIZER MONKEY VIRUS; (MPMV), or in monkeys infected with SIMIAN IMMUNODEFICIENCY VIRUS.|MSH|N|
C0080159|skin diseases characterized by local or general distributions of blisters.|CSP|N|
C0080174|The closed form of spina bifida with incomplete closure of a vertebral body with intact overlying skin.|HPO|N|
C0080178|Incomplete closure of the embryonic neural tube, whereby some vertebral arches remain unfused and open. The mildest form is spina bifida occulta, followed by meningocele and meningomyelocele.|HPO|N|
C0080203|A disorder characterized by an arrhythmia with an above normal rate.|NCI|N|
C0080218|During normal embryological development, the spinal cord first occupies the entire length of the vertebral column but goes on to assume a position at the level of L1 due to differential growth of the conus medullaris and the vertebral column. The filum terminale is a slender, threadlike structure that remains after the normal regression of the distal embryonic spinal cord and attaches the spinal cord to the coccyx. A tethered cord results if there is a thickened rope-like filum terminale which anchors the cord at the level of L2 or below, potentially causing neurologic signs owing to abnormal tension on the spinal cord.|HPO|N|
C0080274|Inability to completely empty the urinary bladder during the process of urination.|HPO|N|
C0080276|A non-neoplastic or neoplastic disorder that affects the genitourinary system.|NCI|N|
C0080301|Vaginal birth after Caesarian (VBAC) refers to the situation where the mother has had a previous Cesarean delivery but has now delivered vaginally.|HPO|N|
C0080304|An abnormal passage between two or more BLOOD VESSELS, between ARTERIES; VEINS; or between an artery and a vein.|MSH|N|
C0080308|Volume of blood remaining in a ventricle at the end of SYSTOLE.|MSH|N|
C0080323|Demyelinating leukoencephalomyelitis of sheep caused by the VISNA-MAEDI VIRUS. It is similar to but not the same as SCRAPIE.|MSH|N|
C0080333|Epidermolysis bullosa simplex (EBS) is characterized by fragility of the skin (and mucosal epithelia in some instances) that results in non-scarring blisters and erosions caused by minor mechanical trauma. EBS is distinguished from other types of epidermolysis bullosa (EB) or non-EB skin fragility syndromes by the location of the blistering in relation to the dermal-epidermal junction. In EBS, blistering occurs within basal keratinocytes. The severity of blistering ranges from limited to hands and feet to widespread involvement. Additional features can include hyperkeratosis of the palms and soles (keratoderma), nail dystrophy, milia, and hyper- and/or hypopigmentation. Rare EBS subtypes have been associated with additional clinical features including pyloric atresia, muscular dystrophy, cardiomyopathy, and/or nephropathy.|GeneReviews|N|
C0085070|Adherent debris produced when cutting the enamel or dentin in cavity preparation. It is about 1 micron thick and its composition reflects the underlying dentin, although different quantities and qualities of smear layer can be produced by the various instrumentation techniques. Its function is presumed to be protective, as it lowers dentin permeability. However, it masks the underlying dentin and interferes with attempts to bond dental material to the dentin.|MSH|N|
C0085073|A bacterial infection related to a device used to replace a missing body part. The infection may occur during the operation from direct contamination or post-operatively through hematogenous spread.|NCI|N|
C0085074|A localized or generalized inflammatory skin disorder characterized by the formation of papules and ring-shaped plaques in the skin. Morphologically these lesions are granulomatous inflammatory processes with central necrosis surrounded by palisading histiocytes.|NCI|N|
C0085077|Acute febrile neutrophilic dermatosis (AFND) is an autosomal dominant autoinflammatory disorder characterized by onset of recurrent fever and dermatologic abnormalities in childhood. Laboratory studies show elevated acute-phase reactants and activation of the inflammatory response, particularly IL1B (147720). Additional more variable features may include myalgia and arthralgia (summary by Masters et al., 2016).|OMIM|N|
C0085078|A group of autosomal recessive or X-linked inherited metabolic disorders caused by defects in the function of the lysosomes. Signs and symptoms include hepatomegaly, splenomegaly, nervous system manifestations, skeletal abnormalities, and mental deterioration. Representative examples include Gaucher disease, Niemann-Pick disease, Wolman disease, and Fabry disease.|NCI|N|
C0085082|A laboratory test result indicating the presence of fungi or yeasts in the blood.|NCI|N|
C0085083|A rare non-malformative gynecological disease affecting pre-menopausal women usually following treatment with ovarian stimulating hormones, characterized by ovarian enlargement and, to varying degrees, shift of serum from the intravascular space to the third space, mainly into the peritoneal, pleural, and to a lesser extent to the pericardial cavities. Presenting symptoms include abdomen distention, pain, nausea, and vomiting. Severity ranges from mild to life-threatening and is complicated by increased risk of thrombosis, acute hepato-renal failure, acute respiratory distress syndrome, and ovarian torsion and rupture.|ORDO|N|
C0085084|A disease involving the motor neuron.|MONDO|N|
C0085090|An aggressive lymphoma that develops in HIV-positive patients. There is a significant increase in the incidence of lymphomas associated with the AIDS epidemic. These lymphomas are usually extranodal, most often express a B-cell phenotype and morphologically are classified as Burkitt, diffuse large B-cell, and Hodgkin lymphomas. The prognosis is closely related to the severity of immunodeficiency.|NCI|N|
C0085096|This concept is primitive because within clinical practice it is used in different contexts to refer to both arteries and veins of the periphery or exclusively of peripheral arteries and sometimes to describe just occlusive disease of the peripheral arteries. More detailed unambiguous concepts are available for these more specific interpretations.|SNOMEDCT_US|N|
C0085106|Hailey-Hailey disease (HHD), also known as benign chronic pemphigus, is a rare autosomal dominant cutaneous disorder that usually becomes manifest in the third or fourth decade of life with erythema, vesicles, and erosions involving the body folds, particularly the groin and axillary regions. Other sites of the body, such as the neck, perianal, and submammary regions, may likewise be affected (summary by Poblete-Gutierrez et al., 2004).
This disorder was first described by the dermatologist brothers Hailey and Hailey in 1939 (see Michel, 1982).|OMIM|N|
C0085109|Ingrowth of new blood vessels into the cornea.|HPO|N|
C0085110|A type of primary immune deficiency that is characterized by a more severe defect in both the T- and B-lymphocyte systems.|HPO|N|
C0085119|Lesion on the surface of the skin of the foot, usually accompanied by inflammation. The lesion may become infected or necrotic and is frequently associated with diabetes or leprosy.|MSH|N|
C0085121|Loss of detectable antigen from the surface of a cell after incubation with antibodies. This is one method in which some tumors escape detection by the immune system. Antigenic modulation of target antigens also reduces the therapeutic effectiveness of treatment by monoclonal antibodies.|MSH|N|
C0085128|An increased volume of blood pumped by the left and right ventricle, per unit time. Cardiac output (CO) is the product of the heart rate (HR), i.e. the number of heartbeats per minute (bpm), and the stroke volume (SV), which is the volume of blood pumped from the ventricle per beat.|HPO|N|
C0085129|Tendency of the smooth muscle of the tracheobronchial tree to contract more intensely in response to a given stimulus than it does in the response seen in normal individuals. This condition is present in virtually all symptomatic patients with asthma. The most prominent manifestation of this smooth muscle contraction is a decrease in airway caliber that can be readily measured in the pulmonary function laboratory.|MSH|N|
C0085131|GM1 gangliosidosis is an inherited disorder that destroys nerve cells (neurons) in the brain and spinal cord. This condition can be classified as one of three major types based on the age at which signs and symptoms first appear. However, the signs and symptoms of these three types can overlap, leading some researchers to believe that GM1 gangliosidosis occurs on a spectrum instead of as three distinct types.\n\nThe signs and symptoms of the most severe form of GM1 gangliosidosis, called type I or the infantile form, usually develop by the age of 6 months. Infants with this form of the disorder typically appear normal until their development slows and the muscles used for movement weaken. Affected infants eventually lose the skills they had previously acquired (developmentally regress) and may develop an exaggerated startle reaction to loud noises. Over time, children with GM1 gangliosidosis type I develop an enlarged liver and spleen (hepatosplenomegaly) and skeletal abnormalities. Affected children often  have seizures and profound intellectual disability. \n\nPeople with GM1 gangliosidosis type I can lose their vision due to clouding of the clear outer covering of the eye (the cornea) and the breakdown of the light-sensing tissue at the back of the eye (the retina). Affected individuals also develop a red area in the eye known as a cherry-red spot. In some cases, affected individuals have distinctive facial features that are described as "coarse," enlarged gums (gingival hypertrophy), and an enlarged and weakened heart muscle (cardiomyopathy). Individuals with type I usually do not survive past early childhood.\n\nGM1 gangliosidosis type II occurs in one of two forms: the late infantile or the juvenile forms. Children with type II develop normally early in life, but they begin to show signs and symptoms of the condition around the age of 18 months (late infantile form) or 5 years (juvenile form). Individuals with GM1 gangliosidosis type II experience developmental regression but usually do not have cherry-red spots, coarse facial features, or enlarged organs. Type II usually progresses more slowly than type I, but it still  shortens life expectancy. People with the late infantile form typically survive into mid-childhood, while those with the juvenile form may live into early adulthood.\n\nGM1 gangliosidosis type III is the adult or chronic form of the condition, and this is the mildest form. The age at which symptoms first appear varies in people with GM1 gangliosidosis type III, although most affected individuals develop signs and symptoms in their teens. The characteristic features of this type include involuntary tensing of various muscles (dystonia) and abnormalities of the spinal bones (vertebrae). Life expectancy varies among people with GM1 gangliosidosis type III.|MedlinePlus Genetics|N|
C0085132|Mucopolysaccharidosis type VII (MPS7) is an autosomal recessive lysosomal storage disease characterized by the inability to degrade glucuronic acid-containing glycosaminoglycans. The phenotype is highly variable, ranging from severe lethal hydrops fetalis to mild forms with survival into adulthood. Most patients with the intermediate phenotype show hepatomegaly, skeletal anomalies, coarse facies, and variable degrees of mental impairment (Shipley et al., 1993). MPS VII was the first autosomal mucopolysaccharidosis for which chromosomal assignment was achieved.|OMIM|N|
C0085136|A neoplasm of the central nervous system.|HPO|N|
C0085138|An intraventricular neoplasm that originates from the choroid plexus. The vast majority of choroid plexus neoplasms originate from the epithelial layer and include the choroid plexus papilloma, atypical choroid plexus papilloma, and choroid plexus carcinoma.|NCI|N|
C0085159|A syndrome characterized by depressions that recur annually at the same time each year, usually during the winter months. Other symptoms include anxiety, irritability, decreased energy, increased appetite (carbohydrate cravings), increased duration of sleep, and weight gain. sad (seasonal affective disorder) can be treated by daily exposure to bright artificial lights (phototherapy), during the season of recurrence.|MONDO|N|
C0085160|Inflammation of the apocrine sweat glands, characterized by redness, itching, pain or swelling of the sweat glands, usually in the axillae or groin.|NCI|N|
C0085164|A neoplastic disease of cats frequently associated with feline leukemia virus infection.|MSH|N|
C0085165|A lymphoid neoplastic disease in cattle caused by the bovine leukemia virus. Enzootic bovine leukosis may take the form of lymphosarcoma, malignant lymphoma, or leukemia but the presence of malignant cells in the blood is not a consistent finding.|MSH|N|
C0085166|Infection caused by bacterial overgrowth in the vagina. Most affected women are asymptomatic. When symptoms occur, they include foul-smelling vaginal discharge, vaginal itching, and burning. Risk factors include sexual activity with multiple partners and the use of vaginal douches and intrauterine devices. Up to a third of cases resolve without treatment. Antibiotic treatment is recommended when symptoms are present and for women that are pregnant at the time of infection.|NCI|N|
C0085167|An unusual benign or malignant neoplasm characterized by the presence of neoplastic large polygonal cells with granular, eosinophilic cytoplasm which contains abundant lysosomes. It was originally thought to be a tumor originating from muscle cells and was named granular cell myoblastoma. Subsequent studies have suggested a derivation from Schwann cells. It affects females more often than males and it usually presents as a solitary mass. A minority of patients have multiple tumors. It can arise from many anatomic sites including the posterior pituitary gland, skin, oral cavity, esophagus, stomach, heart, mediastinum, and breast.|NCI|N|
C0085179|A complex systemic syndrome with inflammatory and autoimmune components that affect the skin, fascia, muscle, nerve, blood vessels, lung, and heart. Diagnostic features generally include eosinophilia, myalgia severe enough to limit usual activities of daily living, and the absence of coexisting infectious, autoimmune or other conditions that may induce eosinophilia. Biopsy of affected tissue reveals a microangiopathy associated with diffuse inflammation involving connective tissue. (From Spitzer et al., J Rheumatol Suppl 1996 Oct;46:73-9; Blackburn wd, Semin Arthritis Rheum 1997 Jun;26(6):788-93)|MONDO|N|
C0085183|Abnormal growths of tissue that follow a previous neoplasm but are not metastases of the latter. The second neoplasm may have the same or different histological type and can occur in the same or different organs as the previous neoplasm but in all cases arises from an independent oncogenic event. The development of the second neoplasm may or may not be related to the treatment for the previous neoplasm since genetic risk or predisposing factors may actually be the cause.|MSH|N|
C0085200|Intracytoplasmic, eosinophilic, round to elongated inclusions found in vacuoles of injured or fragmented neurons. The presence of Lewy bodies is the histological marker of the degenerative changes in LEWY BODY DISEASE and PARKINSON DISEASE but they may be seen in other neurological conditions. They are typically found in the substantia nigra and locus coeruleus but they are also seen in the basal forebrain, hypothalamic nuclei, and neocortex.|MSH|N|
C0085207|Gestational diabetes is a disorder characterized by abnormally high levels of blood glucose (also called blood sugar) during pregnancy. Affected women do not have diabetes before they are pregnant, and most of these women go back to being nondiabetic soon after the baby is born. The disease has a 30 to 70 percent chance of recurring in subsequent pregnancies. Additionally, about half of women with gestational diabetes develop another form of diabetes, known as type 2 diabetes, within a few years after their pregnancy.\n\nGestational diabetes is often discovered during the second trimester of pregnancy. Most affected women have no symptoms, and the disease is discovered through routine screening at their obstetrician's office. If untreated, gestational diabetes increases the risk of pregnancy-associated high blood pressure (called preeclampsia) and early (premature) delivery of the baby.\n\nBabies of mothers with gestational diabetes tend to be large (macrosomia), which can cause complications during birth. Infants whose mothers have gestational diabetes are also more likely to develop dangerously low blood glucose levels soon after birth. Later in life, these individuals have an increased risk of developing obesity, heart disease, and type 2 diabetes.|MedlinePlus Genetics|N|
C0085209|A transmissible spongiform encephalopathy of cattle associated with abnormal prion proteins in the brain. Affected animals develop excitability and salivation followed by ATAXIA. This disorder has been associated with consumption of SCRAPIE infected ruminant derived protein. This condition may be transmitted to humans, where it is referred to as variant or new variant CREUTZFELDT-JAKOB SYNDROME. (Vet Rec 1998 Jul 25;143(41):101-5)|MSH|N|
C0085215|Premature ovarian failure is clearly a heterogeneous disorder. The terms 'hypergonadotropic ovarian failure' and 'hypergonadotropic ovarian dysgenesis' (see ODG1, 233300) have been used to indicate a group of disorders in which amenorrhea associated with elevated levels of serum gonadotropins occurs long before the age of 40 years (Coulam, 1982). Cytogenetic studies of X-chromosome aberrations have suggested that it is mainly the long arm of the X chromosome that is involved in defects of ovulation (Bione et al., 1998).
Reviews
Qin et al. (2015) reviewed the genetics of primary ovarian insufficiency (POI), also known as POF. They noted that causative genes had been identified in only 20 to 25% of POI cases.
Rossetti et al. (2017) reviewed the genetics of primary ovarian insufficiency, noting that the significance of this disorder was increasing because of the increasing number of women desiring conception beyond 30 years of age, at which point POF prevalence is more than 1%.
Genetic Heterogeneity of Premature Ovarian Failure
Mutations in genes identified within a region defined as POF2 (Xq13.3-q21.1) have been found to cause other forms of POF: POF2A (300511) by mutation in the DIAPH2 gene (300108) and POF2B (300604) by mutation in the POF1B gene (300603). See also POF3 (608996), caused by mutation in the FOXL2 gene (605597) on chromosome 3q22; POF4 (see 300510), caused by mutation in the BMP15 gene (300247) on chromosome Xp11; POF5 (611548), caused by mutation in the NOBOX gene (610934) on chromosome 7q35; POF6 (612310), caused by mutation in the FIGLA gene (608697) on chromosome 2p13; POF7 (612964), caused by mutation in the NR5A1 gene (184757) on chromosome 9q33; POF8 (615723), caused by mutation in the STAG3 gene (608489) on chromosome 7q22; POF9 (615724), caused by mutation in the HFM1 gene (615684) on chromosome 1p22; POF10 (612885), caused by mutation in the MCM8 gene (608187) on chromosome 20p12; POF11 (616946), caused by mutation in the ERCC6 gene (609413) on chromosome 10q11; POF12 (616947), caused by mutation in the SYCE1 gene (611486) on chromosome 10q26; POF13 (617442), caused by mutation in the MSH5 gene (603382) on chromosome 6p21; POF14 (618014), caused by mutation in the GDF9 gene (601918) on chromosome 5q31; POF15 (618096), caused by mutation in the FANCM gene (609644) on chromosome 14q21; POF16 (618723), caused by mutation in the BNC1 gene (601930) on chromosome 15q25; POF17 (619146), caused by mutation in the XRCC2 gene (600375) on chromosome 7q36; POF18 (619203), caused by mutation in the C14ORF39 gene (617307) on chromosome 14q23; POF19 (619245), caused by mutation in the HSF2BP gene (604554) on chromosome 21q22; POF20 (609938), caused by mutation in the MSH4 gene (602105) on chromosome 1p31; POF21 (620311), caused by mutation in the TP63 gene (603273) on chromosome 3q28; POF22 (620548), caused by mutation in KASH5 gene (618125) on chromosome 19q13; and POF23 (620686), caused by mutation in the MEIOB gene (617670) on chromosome 16p13.
In 100 patients with primary or secondary amenorrhea before the age of 40 years, who also exhibited elevated FSH, Bouilly et al. (2016) screened for variants in 19 POF-associated or candidate genes. The authors noted that 8 of the 19 mutation-positive patients carried a genetic defect in more than 1 gene, and that patients with 2 or more variants tended to have a younger age of onset and were more likely have primary rather than secondary amenorrhea. Bouilly et al. (2016) suggested that digenicity and possibly oligogenicity may contribute to POF, noting that this might account for the phenotypic variability and incomplete penetrance that have been observed in patients with POF.|OMIM|N|
C0085220|Hereditary cerebral amyloid angiopathy is a condition characterized by an abnormal buildup of protein clumps called amyloid deposits in the blood vessels in the brain, causing vascular disease (angiopathy). People with hereditary cerebral amyloid angiopathy often have progressive loss of intellectual function (dementia), stroke, and other neurological problems starting in mid-adulthood. Due to neurological decline, this condition is typically fatal in one's sixties, although there is variation depending on the severity of the signs and symptoms. Most affected individuals die within a decade after signs and symptoms first appear, although some people with the disease have survived longer.\n\nThere are many different types of hereditary cerebral amyloid angiopathy. The different types are distinguished by their genetic cause, which determines whether areas of the brain other than blood vessels  are affected, and the signs and symptoms that occur. The various types of hereditary cerebral amyloid angiopathy are named after the regions where they were first diagnosed.\n\nThe Dutch type of hereditary cerebral amyloid angiopathy is the most common form. Stroke is frequently the first sign of the Dutch type and is fatal in about one third of people who have this condition. Survivors often develop dementia and have recurrent strokes. About half of individuals with the Dutch type who have one or more strokes will have recurrent seizures (epilepsy).\n\nPeople with the Flemish and Italian types of hereditary cerebral amyloid angiopathy are prone to recurrent strokes and dementia. Individuals with the Piedmont type may have one or more strokes and typically experience impaired movements, numbness or tingling (paresthesias), confusion, or dementia.\n\nTwo types of hereditary cerebral amyloid angiopathy, known as familial British dementia and familial Danish dementia, are characterized by dementia and movement problems. Strokes are uncommon in these types. People with the Danish type also have clouding of the lens of the eyes (cataracts) and deafness.\n\nThe first sign of the Icelandic type of hereditary cerebral amyloid angiopathy is typically a stroke followed by dementia. Strokes associated with the Icelandic type usually occur earlier than the other types, with individuals typically experiencing their first stroke in their twenties or thirties.\n\nStrokes are rare in people with the Arctic type of hereditary cerebral amyloid angiopathy, in which the first sign is usually memory loss that then progresses to severe dementia. Strokes are also uncommon in individuals with the Iowa type. This type is characterized by memory loss, problems with vocabulary and the production of speech, personality changes, and involuntary muscle twitches (myoclonus).|MedlinePlus Genetics|N|
C0085222|Abscess of the PSOAS MUSCLES resulting usually from disease of the lumbar vertebrae, with the pus descending into the muscle sheath. The infection is most commonly tuberculous or staphylococcal.|MSH|N|
C0085232|A diverticulum of the posterior pharyngeal wall opening, which is located just posterior the cricoid cartilage, between the inferior pharyngeal constrictor and the cricopharyngeus muscles.|NCI|N|
C0085253|A rare inflammatory multisystem disorder characterized clinically by four cardinal signs: fever of unknown origin, arthralgia or arthritis, hyperleucocytosis, and typical skin rash.|ORDO|N|
C0085257|In the YIN-YANG system of philosophy and medicine, an insufficiency of body fluid (called yinxu), manifesting often as irritability, thirst, constipation, etc. (The Pinyin Chinese-English Dictionary, 1979).|MSH|N|
C0085258|In the YIN-YANG system of philosophy and medicine, a lack of vital energy (called yangxu in Chinese). It manifests itself in various systemic and organic diseases. (The Pinyin Chinese-English Dictionary, 1979)|MSH|N|
C0085261|Proteus syndrome is characterized by progressive segmental or patchy overgrowth most commonly affecting the skeleton, skin, adipose, and central nervous systems. In most individuals Proteus syndrome has modest or no manifestations at birth, develops and progresses rapidly beginning in the toddler period, and relentlessly progresses through childhood, causing severe overgrowth and disfigurement. It is associated with a range of tumors, pulmonary complications, and a striking predisposition to deep vein thrombosis and pulmonary embolism.|GeneReviews|N|
C0085269|Tumour-like mass in lungs composed of fibrous tissue or granulation tissue with inflammatory cells.|SNOMEDCT_US|N|
C0085270|A nonspecific tumor-like inflammatory lesion in the ORBIT of the eye. It is usually composed of mature LYMPHOCYTES; PLASMA CELLS; MACROPHAGES; LEUKOCYTES with varying degrees of FIBROSIS. Orbital pseudotumors are often associated with inflammation of the extraocular muscles (ORBITAL MYOSITIS) or inflammation of the lacrimal glands (DACRYOADENITIS).|MSH|N|
C0085271|Self-aggression.|HPO|N|
C0085273|A self-limited viral infectious disorder caused by the human parvovirus B19. It affects predominantly children and is characterized by the development of a bright red skin eruption in the cheeks. It is followed by a maculopapular skin eruption in the extremities which eventually fades into a lacey pattern.|NCI|N|
C0085277|A factitious disorder that involves a care giver's deliberate exaggeration, fabrication, and/or induce physical, psychological, behavioral, and/or mental health problems in others.|MONDO|N|
C0085278|A disorder caused by the presence of autoantibodies directed against phospholipids, causing a hypercoaguable state, which may result in blood clots, stroke, heart attack, and in women, significant pregnancy-related complications, including miscarriage and still birth. The syndrome is often associated with other autoimmune disorders, most commonly lupus erythematosus, and infections, including syphilis and Lyme disease.|NCI|N|
C0085280|Alagille syndrome (ALGS) is a multisystem disorder with a wide spectrum of clinical variability; this variability is seen even among individuals from the same family. The major clinical manifestations of ALGS are bile duct paucity on liver biopsy, cholestasis, congenital cardiac defects (primarily involving the pulmonary arteries), butterfly vertebrae, ophthalmologic abnormalities (most commonly posterior embryotoxon), and characteristic facial features. Renal abnormalities, growth failure, developmental delays, splenomegaly, and vascular abnormalities may also occur.|GeneReviews|N|
C0085281|When an activity, substance, object, or behavior becomes a major focus of a person's life, excluding other activities, or has begun to harm the individual or others physically, mentally, or socially, it can be considered addictive behavior. A person can become addicted or compulsively engaged with anything.|HPO|N|
C0085292|The stiff-person syndrome (SPS) is most often an adult-onset sporadic acquired disorder characterized by progressive muscle stiffness with superimposed painful muscle spasms accompanied by electromyographic evidence of continuous motor activity at rest. SPS has been associated with autoimmune disorders, diabetes mellitus, thyrotoxicosis, and hypopituitarism with adrenal insufficiency (George et al., 1984).
Approximately 60% of patients with SPS have antibodies to glutamic acid decarboxylase (GAD2, or GAD65; 138275), the rate-limiting enzyme in the synthesis of the inhibitory neurotransmitter gamma-aminobutyric acid (GABA), suggesting an immune-mediated pathogenesis (Folli et al., 1993). Approximately 10% of patients develop SPS as a paraneoplastic neurologic disorder associated with antibodies to amphiphysin (AMPH; 600418), an intracellular protein associated with neuronal synaptic vesicle endocytosis (Burns, 2005).
See also congenital stiff-man syndrome, or hereditary hyperexplexia (149400), which is caused by mutations in subunits of the glycine receptor gene (GLRA1, 138491; GLRB, 138492).
Meinck and Thompson (2002) provided a detailed review of stiff-person syndrome. They also discussed 2 possibly related conditions, progressive encephalomyelitis with rigidity (PERM), a more severe disorder with other neurologic features, and stiff-limb or stiff-leg syndrome, a focal disorder.|OMIM|N|
C0085293|Acute inflammation of the liver in humans; caused by hepatitis E virus, a non-enveloped single-stranded rna virus. Similar to hepatitis A, its incubation period is 15-60 days and is enterically transmitted, usually by fecal-oral transmission.|MONDO|N|
C0085298|The heart suddenly and unexpectedly stops beating resulting in death within a short time period (generally within 1 h of symptom onset).|HPO|N|
C0085306|Common coronavirus infection of cats caused by the feline infectious peritonitis virus (CORONAVIRUS, FELINE). The disease is characterized by a long incubation period, fever, depression, loss of appetite, wasting, and progressive abdominal enlargement. Infection of cells of the monocyte-macrophage lineage appears to be essential in FIP pathogenesis.|MSH|N|
C0085307|A collective term for pathological conditions which are caused by the formation of a blood clot (THROMBUS) in a blood vessel, or by blocking of a blood vessel with an EMBOLUS, undissolved materials in the blood stream.|MSH|N|
C0085308|Infections with protozoa of the phylum ciliophora.|MONDO|N|
C0085311|A form of LEISHMANIASIS, CUTANEOUS caused by Leishmania aethiopica in Ethiopia and Kenya, L. pifanoi in Venezuela, L. braziliensis in South America, and L. mexicana in Central America. This disease is characterized by massive dissemination of skin lesions without visceral involvement.|MONDO|N|
C0085313|Infections with organisms of the genus BLASTOCYSTIS. The species B. hominis is responsible for most infections. Parasitologic surveys have generally found small numbers of this species in human stools, but higher positivity rates and organism numbers in AIDS patients and other immunosuppressed patients (IMMUNOCOMPROMISED HOST). Symptoms include ABDOMINAL PAIN; DIARRHEA; CONSTIPATION; VOMITING; and FATIGUE.|MSH|N|
C0085315|Infections of the brain caused by the protozoan toxoplasma gondii that primarily arise in individuals with immunologic deficiency syndromes (see also aids-related opportunistic infections). The infection may involve the brain diffusely or form discrete abscesses. Clinical manifestations include seizures, altered mentation, headache, focal neurologic deficits, and intracranial hypertension. (From Joynt, Clinical Neurology, 1998, Ch27, pp41-3)|MONDO|N|
C0085380|Abnormal fear or dread of visiting the dentist for preventive care or therapy and unwarranted anxiety over dental procedures.|MSH|N|
C0085383|Abnormally reduced blood carbon dioxide (CO2) level.|HPO|N|
C0085388|A well-circumscribed mass composed of tuberculous granulation tissue that may occur in the cerebral hemispheres, cerebellum, brain stem, or perimeningeal spaces. Multiple lesions are quite common. Management of intracranial manifestations vary with lesion site. Intracranial tuberculomas may be associated with SEIZURES, focal neurologic deficits, and INTRACRANIAL HYPERTENSION. Spinal cord tuberculomas may be associated with localized or radicular pain, weakness, sensory loss, and incontinence. Tuberculomas may arise as OPPORTUNISTIC INFECTIONS, but also occur in immunocompetent individuals.|MSH|N|
C0085389|Infections with bacteria of the family bacillaceae.|MONDO|N|
C0085390|Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. The lifetime risk of cancer in individuals with LFS is =70% for men and =90% for women. Five cancer types account for the majority of LFS tumors: adrenocortical carcinomas, breast cancer, central nervous system tumors, osteosarcomas, and soft-tissue sarcomas. LFS is associated with an increased risk of several additional cancers including leukemia, lymphoma, gastrointestinal cancers, cancers of head and neck, kidney, larynx, lung, skin (e.g., melanoma), ovary, pancreas, prostate, testis, and thyroid. Individuals with LFS are at increased risk for cancer in childhood and young adulthood; survivors are at increased risk for multiple primary cancers.|GeneReviews|N|
C0085392|Infections with bacteria of the family BACTEROIDACEAE.|MONDO|N|
C0085393|A loss of any arm of immune functions, resulting in potential or actual increase in infections. This state may be reached secondary to specific genetic lesions, syndromes with unidentified or polygenic causes, acquired deficits from other disease states, or as result of therapy for other diseases or conditions.|NCI|N|
C0085394|Infections with bacteria of the genus SERRATIA.|MSH|N|
C0085395|Infections with bacteria of the genus UREAPLASMA.|MSH|N|
C0085396|Infections with bacteria of the family NEISSERIACEAE.|MSH|N|
C0085397|Infections with bacteria of the family PASTEURELLACEAE.|MSH|N|
C0085399|A group of acute febrile tick-borne diseases characterized by an overlapping clinical picture that includes fever, headache, myalgias, arthralgias, skin eruptions, gastrointestinal symptoms and neurological manifestations. Diseases in this group include human monocytotropic ehrlichiosis (HME), human granulocytotropic anaplasmosis (HGA), and human ehrlichiosis ewingii (HEE).|ORDO|N|
C0085400|Pathological protein aggregates formed by hyperphosphorylation of a microtubule-associated protein known as tau, causing it to aggregate in an insoluble form.|HPO|N|
C0085404|POEMS syndrome is a paraneoplastic syndrome characterized by polyradiculoneuropathy (P), organomegaly (O), endocrinopathy (E), clonal plasma cell disorder (M), and skin changes (S). Other features include papilledema, extravascular volume overload, sclerotic bone lesions, thrombocytosis/erythrocytosis, and elevated VEGF levels.|ORDO|N|
C0085407|Microsporidiosis is a parasitosis caused by microsporidia (protozoan parasites).|ORDO|N|
C0085409|A group of rare endocrine diseases characterized by autoimmune activity against more than one endocrine organ, with possible additional involvement of non-endocrine organs. Autoimmunity is typically directed against different target antigens in different tissues. The two more common autoimmune polyendocrine syndromes (APS), APS type 1 and type 2, have a strong genetic background and have Addison's disease as a major feature. The group furthermore includes APS type 3 and type 4.|ORDO|N|
C0085411|Acquired degenerative dilation or expansion (ectasia) of normal blood vessels, often associated with aging. They are isolated, tortuous, thin-walled vessels and sources of bleeding. They occur most often in mucosal capillaries of the gastrointestinal tract leading to gastrointestinal hemorrhage and anemia.|MONDO|N|
C0085412|Infection with fungi of the genus encephalitozoon. Lesions commonly occur in the brain and kidney tubules. Other sites of infection in mammals are the liver; adrenal glands; optic nerves; retina; and myocardium.|MONDO|N|
C0085413|Autosomal dominant polycystic kidney disease (ADPKD) is generally a late-onset multisystem disorder characterized by bilateral kidney cysts, liver cysts, and an increased risk of intracranial aneurysms. Other manifestations include: cysts in the pancreas, seminal vesicles, and arachnoid membrane; dilatation of the aortic root and dissection of the thoracic aorta; mitral valve prolapse; and abdominal wall hernias. Kidney manifestations include early-onset hypertension, kidney pain, and kidney insufficiency. Approximately 50% of individuals with ADPKD have end-stage kidney disease (ESKD) by age 60 years. The prevalence of liver cysts increases with age and occasionally results in clinically significant severe polycystic liver disease (PLD), most often in females. Overall, the prevalence of intracranial aneurysms is fivefold higher than in the general population and further increased in those with a positive family history of aneurysms or subarachnoid hemorrhage. There is substantial variability in the severity of kidney disease and other extra-kidney manifestations.|GeneReviews|N|
C0085417|A disorder characterized by recurrent partial seizures marked by impairment of cognition. During the seizure the individual may experience a wide variety of psychic phenomenon including formed hallucinations, illusions, deja vu, intense emotional feelings, confusion, and spatial disorientation. Focal motor activity, sensory alterations and automatism may also occur. Complex partial seizures often originate from foci in one or both temporal lobes. The etiology may be idiopathic (cryptogenic partial complex epilepsy) or occur as a secondary manifestation of a focal cortical lesion (symptomatic partial complex epilepsy). (From Adams et al., Principles of Neurology, 6th ed, pp317-8)|MONDO|N|
C0085423|Infections caused by bacteria that show up as pink (negative) when treated by the gram-staining method.|MONDO|N|
C0085426|Infections caused by bacteria that retain the crystal violet stain (positive) when treated by the gram-staining method.|MONDO|N|
C0085429|A culture-specific acute delusional syndrome occurring mostly in the Malay people and Southern Chinese. The syndrome is characterized by the individual''s sudden experience of depersonalization depicted by the belief that his penis is shrinking into his abdomen and that he will die when this occurs. Although generally classified as a culture-specific syndrome, koro may be no more than a variant of castration anxiety (ANXIETY, CASTRATION) as it has been described in non-Asian patients.|MSH|N|
C0085434|A condition that is caused by infection with Bartonella, and which is characterized by vascular proliferation, usually in immunocompromised individuals.|NCI|N|
C0085435|A rare spondyloarthritis characterized by acute or chronic sterile synovitis with or without extra-articular manifestations, becoming manifest after an infection.|ORDO|N|
C0085436|A type of fungal meningitis caused by an encapsulated yeast that belongs to the genus Cryptococcus. Cryptococcus neoformans and Cryptococcus gattii are responsible for the majority of cases of human cryptococcosis.|HPO|N|
C0085437|Inflammation of the membranes surrounding the brain and spinal cord due to a bacterial infection.|NCI|N|
C0085438|An infection of the meninges caused by a fungus. Generally, only individuals with deficiencies of the immune system contract fungal meningitis.|HPO|N|
C0085511|A process that reduces the level of inorganic precipitate within the organic matrix in the enamel and dentin of the tooth.|SNOMEDCT_US|N|
C0085541|A localization-related (focal) form of epilepsy characterized by seizures which arise in the frontal lobe. A variety of clinical syndromes exist depending on the exact location of the seizure focus. Frontal lobe seizures may be idiopathic (cryptogenic) or caused by an identifiable disease process such as traumatic injuries, neoplasms, or other macroscopic or microscopic lesions of the frontal lobes (symptomatic frontal lobe seizures). (From Adams et al., Principles of Neurology, 6th ed, pp318-9)|MONDO|N|
C0085543|Epilepsia partialis continua (also called Kojevnikov's or Kozhevnikov's epilepsia) is a type of focal motor status epilepticus characterized by repeated stereotyped simple motor manifestations such as jerks, typically of a limb or the face, recurring every few seconds or minutes for extended periods (days or years).|HPO|N|
C0085547|A rare disorder of phenylalanine (Phe) metabolism, an inborn error of amino acid metabolism, characterized by the development of microcephaly, growth retardation, congenital heart disease, facial dysmorphism and intellectual disability in non-phenylketonuric offspring of mothers with excess blood Phe concentrations.|ORDO|N|
C0085548|Autosomal recessive polycystic kidney disease (ARPKD) belongs to a group of congenital hepatorenal fibrocystic syndromes and is a cause of significant renal and liver-related morbidity and mortality in children. The majority of individuals with ARPKD present in the neonatal period with enlarged echogenic kidneys. Renal disease is characterized by nephromegaly, hypertension, and varying degrees of renal dysfunction. More than 50% of affected individuals with ARPKD progress to end-stage renal disease (ESRD) within the first decade of life; ESRD may require kidney transplantation. Pulmonary hypoplasia resulting from oligohydramnios occurs in a number of affected infants. Approximately 30% of these infants die in the neonatal period or within the first year of life from respiratory insufficiency or superimposed pulmonary infections. With neonatal respiratory support and renal replacement therapies, the long-term survival of these infants has improved to greater than 80%. As advances in renal replacement therapy and kidney transplantation improve long-term survival, it is likely that clinical hepatobiliary disease will become a major feature of the natural history of ARPKD. In addition, a subset of individuals with this disorder are identified with hepatosplenomegaly; the renal disease is often mild and may be discovered incidentally during imaging studies of the abdomen. Approximately 50% of infants will have clinical evidence of liver involvement at diagnosis although histologic hepatic fibrosis is invariably present at birth. This can lead to progressive portal hypertension with resulting esophageal or gastric varices, enlarged hemorrhoids, splenomegaly, hypersplenism, protein-losing enteropathy, and gastrointestinal bleeding. Other hepatic findings include nonobstructed dilatation of the intrahepatic bile ducts (Caroli syndrome) and dilatation of the common bile duct, which may lead to recurrent or persistent bacterial ascending cholangitis due to dilated bile ducts and stagnant bile flow. An increasing number of affected individuals surviving the neonatal period will eventually require portosystemic shunting or liver transplantation for complications of portal hypertension or cholangitis. The classic neonatal presentation of ARPKD notwithstanding, there is significant variability in age and presenting clinical symptoms related to the relative degree of renal and biliary abnormalities.|GeneReviews|N|
C0085568|A cutaneous infection caused by Mycobacterium ulcerans. It presents with painless nodular swelling of the skin, leading to the formation of necrotizing ulcers.|NCI|N|
C0085569|Acidosis (pH less than 7.35) that develops with an increase in ionic chloride.|HPO|N|
C0085574|A syndrome that involves sudden and rapidly developing attacks of arthritis with a remission period that results in no joint damage or symptoms.|MONDO|N|
C0085576|Finberg et al. (2008) referred to this phenotype as iron-refractory iron deficiency anemia (IRIDA) and reviewed the key features: a congenital hypochromic, microcytic anemia; a very low mean corpuscular erythrocyte volume; a low transferrin saturation; abnormal iron absorption characterized by no hematologic improvement following treatment with oral iron; and abnormal iron utilization characterized by a sluggish, incomplete response to parenteral iron. The authors noted that although urinary levels of hepcidin (606464) are typically undetectable in individuals with iron deficiency, in 5 individuals with IRIDA urinary hepcidin/creatinine ratios were within or above the normal range.|OMIM|N|
C0085577|A kind of anemia in which the volume of the red blood cells is normal.|HPO|N|
C0085580|The Pickering school held that blood pressure has a continuous distribution, that multiple genes and multiple environmental factors determine the level of one's blood pressure just as the determination of stature and intelligence is multifactorial, and that 'essential hypertension' is merely the upper end of the distribution (Pickering, 1978). In this view the person with essential hypertension is one who happens to inherit an aggregate of genes determining hypertension (and also is exposed to exogenous factors that favor hypertension). The Platt school took the view that essential hypertension is a simple mendelian dominant trait (Platt, 1963). McDonough et al. (1964) defended the monogenic idea. See McKusick (1960) and Kurtz and Spence (1993) for reviews. Swales (1985) reviewed the Platt-Pickering controversy as an 'episode in recent medical history.' The Pickering point of view appears to be more consistent with the observations.|OMIM|N|
C0085581|Decreased lung volume and inadequate ventilation due to parenchymal lung disorders (e.g., interstitial pulmonary fibrosis) or extrapulmonary disorders (e.g., scoliosis). Patients present with shortness of breath and cough.|NCI|N|
C0085582|Optic neuritis that occurs in the section of the optic nerve located behind the eyeball.|HPO|N|
C0085583|Involuntary movements characterized by both athetosis (inability to sustain muscles in a fixed position) and chorea (widespread jerky arrhythmic movements).|HPO|N|
C0085584|Encephalopathy is a term that means brain disease, damage, or malfunction. In general, encephalopathy is manifested by an altered mental state.|HPO|N|
C0085593|A sudden sensation of feeling cold.|HPO|N|
C0085594|Shivering secondary to a febrile process.|NCI|N|
C0085595|A perceived unpleasant smell given off by the body.|HPO|N|
C0085598|Frequent painful contractions beyond 37 weeks of gestation without advancing into labor or delivery.|NCI|N|
C0085602|Excessive thirst manifested by excessive fluid intake.|HPO|N|
C0085605|A disorder characterized by the inability of the liver to metabolize chemicals in the body. Causes include cirrhosis and drug-induced hepatotoxicity. Signs and symptoms include jaundice and encephalopathy. Laboratory test results reveal abnormal plasma levels of ammonia, bilirubin, lactic dehydrogenase, and alkaline phosphatase.|NCI|N|
C0085606|Urge incontinence is the strong, sudden need to urinate.|HPO|N|
C0085610|Bradycardia related to a mean resting sinus rate of less than 50 beats per minute.|HPO|N|
C0085611|A type of supraventricular tachycardia in which the atria are the principal site of electrophysiologic disturbance.|HPO|N|
C0085612|A disorder characterized by an electrocardiographic finding of an atypical cardiac rhythm resulting from a pathologic process in the cardiac ventricles.|NCI|N|
C0085614|Delay of conduction through the atrioventricular node, which is manifested as prolongation of the PR interval in the electrocardiogram (EKG). All atrial impulses reach the ventricles.|HPO|N|
C0085615|A conduction block of the right branch of the bundle of His. This manifests as a prolongation of the QRS complex (greater than 0.12 s) with delayed activation of the right ventricle and terminal delay on the EKG.|HPO|N|
C0085616|Narrowing of an artery due to constriction of the blood vessels.|HPO|N|
C0085619|A sensation of breathlessness in the recumbent position, relieved by sitting or standing.|HPO|N|
C0085621|paralysis marked by spasticity of the muscles of the paralyzed part and increases tendon reflexes, due to upper motor neuron lesions.|CSP|N|
C0085622|Paralysis that affects one limb.|NCI|N|
C0085623|Inability to initiate changes in activity or movement and to perform ordinary volitional movements rapidly and easily.|HPO|N|
C0085624|A sensation of stinging or heat, not necessarily accompanied by redness or physical signs of irritation.|NCI|N|
C0085628|A state of reduced sensibility and response to stimuli which is distinguished from COMA in that the person can be aroused by vigorous and repeated stimulation. The person is still conscious and can make voluntary movements. It can be induced by CENTRAL NERVOUS SYSTEM AGENTS. The word derives from Latin stupere and is related to stunned, stupid, dazed or LETHARGY.|MSH|N|
C0085631|A state of extreme restlessness and excessive motor activity is associated with mental distress or a feeling of inner tension.|HPO|N|
C0085632|Apathy is a quantitative reduction of motivation and the initiation and persistence of goal-directed behavior, where the accompanying emotions, thoughts, and social interactions are also suppressed.|HPO|N|
C0085633|Unstable emotional experiences and frequent mood changes; emotions that are easily aroused, intense, and/or disproportionate to events and circumstances.|HPO|N|
C0085635|Perceived flashes of light.|HPO|N|
C0085636|Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light.|HPO|N|
C0085637|An acute dystonic reaction with blepharospasm, periorbital twitches, and protracted fixed staring episodes. There may be a maximal upward deviation of the eyes in the sustained fashion. Oculogyric crisis can be triggered by a number of factors including neuroleptic medications.|HPO|N|
C0085639|A sudden movement downward, usually resulting in injury.|NCI|N|
C0085641|A rash composed of pustular lesions. A pustule is defined as a vesicle or bulla containing purulent material. It varies in size and may occur at different levels within the epidermis|HPO|N|
C0085642|Livedo reticularis is characterized by the presence of a bluish purple, mottled or netlike pattern in unbroken circles on the skin. Exposure to cold environments usually intensifies the vascular pattern. Presumably, the condition results from slow or stagnant blood flow, vessel-wall pathology, and decreased oxygen tension.|HPO|N|
C0085648|A fluid-filled sac or pouch-like mass that is a distention of a preexisting bursa in a joint, tendon sheaths or bursae. Synovial cysts contain synovial fluid and are lined by synovial membrane.|HPO|N|
C0085649|An abnormal accumulation of interstitial fluid in the soft tissues of the limbs.|HPO|N|
C0085650|A severe, rapidly fatal reaction occurring most commonly in children following an infectious illness. It is characterized by large, rapidly spreading skin hemorrhages, fever, or shock. Purpura fulminans often accompanies or is triggered by disseminated intravascular coagulation.|MONDO|N|
C0085652|A deep skin ulcer with a well defined border, which is usually violet or blue. The ulcer edge is often undermined (worn and damaged) and the surrounding skin is erythematous and indurated. The ulcer often starts as a small papule or collection of papules, which break down to form small ulcers with a so called cat's paw appearance. These coalesce and the central area then undergoes necrosis to form a single ulcer.|HPO|N|
C0085653|A friable, benign vascular neoplasm with lobular capillary architecture that presents as a raised red skin growth.|NCI|N|
C0085655|A rare idiopathic inflammatory myopathy (IIM) historically characterized by symmetric proximal muscle weakness, elevated muscle enzymes (creatine kinase), myopathic findings on electromyography, and muscle biopsy showing endomyial infiltration composed mainly of macrophages and lymphocytes. The features are non-specific, thus the disease should be distinguished from similar entities with specific clinical, immunological, histological features, notably dermatomyositis, immune-mediated necrotizing myopathy, anti-synthetase syndrome, inclusion body myositis, and myositis associated with other connective tissue disorder.|ORDO|N|
C0085656|A type of eczema characterized by pruritic coin-shaped patches on the skin. Nummular eczema most commonly occurs on the extremities, particularly the legs, but may occur anywhere on the trunk, hands, or feet|HPO|N|
C0085658|Inflammation of skin adjacent to an infectious site by autoinoculation; appears as eczematous plaque with or without vesicles.|SNOMEDCT_US|N|
C0085659|WHAT: Erythema marginatum.	Erythema Marginatum: an evanescent, erythematous rash characteris- tically (though not commonly) seen in the early stages of rheumatic fever. The rash is not limited to rheumatic fever, however, and has also been reported in patients with allergic drug reactions, sepsis and glomerulonephritis.	WHY:	Although the rash is not pathognomonic of rheumatic fever, its presence is helpful in conjunction with other manifestations of rheumatic fever, particularly carditis with which it is most often associated.	HOW:	The rash is characterized by pink, evanescent, slightly raised small macules with a sharply demarcated and irregular border. The erythematous areas often have pale centers. The rash commonly occurs over the trunk and inner aspects of the upper arms and thighs, but never on the face. It is non-painful and rarely pruritic, may appear and disappear in a matter of hours only to return, and may be brought out by a hot bath or shower. The rash blanches on pressure, and is a transient rash which tends to migrate from place to place.	REFS:	1) Jones criteria (revised) for guidance in the diagnosis of rheumatic fever. Circulation 32:664, 1965. 2) Dictionary of the Rheumatic Diseases, Volume I: Signs and Symptoms. American Rheumatism Association, 1982. (Descriptor #133).|AIR|N|
C0085661|Detachment of the nail from the nail bed.|HPO|N|
C0085664|A cutaneous horn is a keratinized non-malignant protrusion on the surface of the skin. Diagnosis is established by biopsy of the horn and biopsy of the horn and the underlying skin.|HPO|N|
C0085666|A type of telangiectasia comprising a central red spot with red, radiating extensions.|NCI|N|
C0085668|A carcinoma that arises from a pre-existing lower grade epithelial lesion, or as a result of a primary carcinoma that has spread to secondary sites, or due to a complication of a cancer treatment.|NCI|N|
C0085669|A clonal (malignant) hematopoietic disorder with an acute onset, affecting the bone marrow and the peripheral blood. The malignant cells show minimal differentiation and are called blasts, either myeloid blasts (myeloblasts) or lymphoid blasts (lymphoblasts).|HPO|N|
C0085677|Any disease affecting more than one nerve.|NCI|N|
C0085679|An abnormally increased chloride concentration in the blood.|HPO|N|
C0085680|An abnormally decreased chloride concentration in the blood.|HPO|N|
C0085681|An abnormally increased phosphate concentration in the blood.|HPO|N|
C0085682|An abnormally decreased phosphate concentration in the blood.|HPO|N|
C0085688|A painful swelling of the breasts due to accumulation of milk in blocked lactating ducts.|NCI|N|
C0085690|Hordeola interna are acute purulent infections affecting the meibomian sebacious glands, often caused by staphylococcus infections. In contrast to chalazia (chronic epithelioid cell granulomatous inflammation of the meibomian gland caused by inflammation of a blocked meibomian gland), hordeola are extremely painfull and can cause extreme local swelling.|HPO|N|
C0085692|Inflammation of the bladder resulting in bloody urine.|NCI|N|
C0085694|Cholecystitis that is persistent and long-standing.|NCI|N|
C0085695|A chronic form of gastritis.|HPO|N|
C0085696|An infectious or non-infectious chronic inflammatory process that affects the prostate gland.|NCI|N|
C0085697|Persistent pyelonephritis.|NCI|N|
C0085700|Pathological processes involving the chondral tissue (cartilage).|MONDO|N|
C0085702|An increased number of circulating monocytes.|HPO|N|
C0085750|A non-neoplastic disorder characterized by epithelial and/or myoepithelial tissue growth in the breast lobules. It may be associated with apocrine changes or sclerosis.|NCI|N|
C0085758|A type of aganglionic megacolon in which the aganglionic segment comprises the entire colon.|HPO|N|
C0085762|The use of alcoholic beverages to excess, either on individual occasions (""binge drinking"") or as a regular practice.|NCI|N|
C0085786|Acute idiopathic interstitial pneumonitis characterized by diffuse PULMONARY ALVEOLI damage with uniform edematous connective tissue proliferation. It is often associated with extensive fibroblastic distortion of the lung parenchyma and leads to ADULT RESPIRATORY DISTRESS SYNDROME in later stages.|MSH|N|
C0085808|An aneurysm caused by an infection.|NCI|N|
C0085819|Inflammation of the colon that is caused by an alteration in intestinal flora by antibiotic use.|NCI|N|
C0085859|Autoimmune polyglandular syndrome type I is characterized by the presence of 2 of 3 major clinical symptoms: Addison disease, and/or hypoparathyroidism, and/or chronic mucocutaneous candidiasis (Neufeld et al., 1981). However, variable APS1 phenotypes have been observed, even among sibs. In addition, some patients may exhibit apparent isolated hypoparathyroidism, an early manifestation of APS1 with peak incidence at around age 5 years; over longterm follow-up, the development of additional features of APS1 may be observed (Cranston et al., 2022).|OMIM|N|
C0085860|Autoimmune polyendocrine syndrome type II (APS2), or Schmidt syndrome, is characterized by the presence of autoimmune Addison disease in association with either autoimmune thyroid disease or type I diabetes mellitus, or both. Chronic candidiasis is not present. APS2 may occur at any age and in both sexes, but is most common in middle-aged females and is very rare in childhood (summary by Betterle et al., 2004).
See 240300 for a phenotypic description of autoimmune polyendocrine syndrome type I (APS1).|OMIM|N|
C0085919|Lymphosarcoma that occurs in a cow.|NCI|N|
C0085932|Inflammation of the skin characterized by the presence of bullae which are filled with fluid.|NCI|N|
C0085988|After complete dilatation, failure of the fetal presenting part to descend through the pelvis.|NCI|N|
C0086168|Used generally to describe the process whereby thoughts, attitudes, emotions, or a coordinated set of activities becomes separated from one''s personality or mental processes. Compare DISSOCIATIVE DISORDERS.|PSY|N|
C0086170|Indicates a person whose marriage has been legally dissolved and has not remarried.|NCI|N|
C0086181|abuse, overuse, or misuse of a drug by its injection into a vein.|CSP|N|
C0086227|An infection that is caused by the nematode Enterobius vermicularis; it is characterized predominantly by perianal pruritus.|NCI|N|
C0086236|An epileptic seizure consisting of sudden loss or diminution of muscle tone without apparent preceding myoclonic or tonic event, lasting approximately one to two seconds, involving head, trunk, jaw, or limb musculature, regardless of whether focal, generalized, or unknown onset, and whether aware or with impaired awareness.|SNOMEDCT_US|N|
C0086241|An epileptic seizure with a sustained increase in muscle contraction lasting a few seconds to minutes, regardless of whether focal, generalized, or unknown onset, and whether aware or with impaired awareness.|SNOMEDCT_US|N|
C0086367|Ovarian dysfunction due to a defect at the receptor or post receptor level, or due to the presence of antibodies against gonadotropin receptors, resulting in deficient gonadotropin signaling that causes elevated concentrations of follicle stimulating hormone and/or luteinizing hormone. A distinguishing feature is the presence of normal numbers of ova.|NCI|N|
C0086431|Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. While affected individuals have traditionally been classified as having one of three MPS I syndromes (Hurler syndrome, Hurler-Scheie syndrome, or Scheie syndrome), no easily measurable biochemical differences have been identified and the clinical findings overlap. Affected individuals are best described as having either a phenotype consistent with either severe (Hurler syndrome) or attenuated MPS I, a distinction that influences therapeutic options. Severe MPS I. Infants appear normal at birth. Typical early manifestations are nonspecific (e.g., umbilical or inguinal hernia, frequent upper respiratory tract infections before age 1 year). Coarsening of the facial features may not become apparent until after age one year. Gibbus deformity of the lower spine is common and often noted within the first year. Progressive skeletal dysplasia (dysostosis multiplex) involving all bones is universal, as is progressive arthropathy involving most joints. By age three years, linear growth decreases. Intellectual disability is progressive and profound but may not be readily apparent in the first year of life. Progressive cardiorespiratory involvement, hearing loss, and corneal clouding are common. Without treatment, death (typically from cardiorespiratory failure) usually occurs within the first ten years of life. Attenuated MPS I. Clinical onset is usually between ages three and ten years. The severity and rate of disease progression range from serious life-threatening complications leading to death in the second to third decade, to a normal life span complicated by significant disability from progressive joint manifestations and cardiorespiratory disease. While some individuals have no neurologic involvement and psychomotor development may be normal in early childhood, learning disabilities and psychiatric manifestations can be present later in life. Hearing loss, cardiac valvular disease, respiratory involvement, and corneal clouding are common.|GeneReviews|N|
C0086432|Segmental glomerular degeneration with a glassy appearance (hyalinosis) caused by the accumulation of plasma proteins in the glomeruli.|MSH|N|
C0086437|Looseness or instability of a joint.|NCI|N|
C0086438|Decreased concentration of the gamma fraction of serum globulin|SNOMEDCT_US|N|
C0086439|Abnormally diminished motor activity. In contrast to paralysis, hypokinesia is not characterized by a lack of motor strength, but rather by a poverty of movement. The typical habitual movements (e.g., folding the arms, crossing the legs) are reduced in frequency.|HPO|N|
C0086445|Glomerulonephritis with electron dense deposits in the glomerular basement membrane; after exclusion of membranous nephropathy caused by malignancy, systemic lupus erythematosus, drugs, or infection. Includes membranous nephropathy associated with autoantibodies to the phospholipase A2 receptor1.|SNOMEDCT_US|N|
C0086525|Physical or mental fatigue.|NCI|N|
C0086533|A benign or malignant gastrointestinal stromal tumor with epithelioid morphology.|NCI|N|
C0086543|A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.|HPO|N|
C0086565|A finding that indicates abnormal liver function.|NCI|N|
C0086588|The lack of sufficient energy or protein to meet the body's metabolic demands, as a result of either an inadequate dietary intake of protein, intake of poor quality dietary protein, increased demands due to disease, or increased nutrient losses.|MONDO|N|
C0086626|A neurological syndrome caused by severe mercury poisoning.|MONDO|N|
C0086647|Mucopolysaccharidosis type III (MPS III) is a multisystem lysosomal storage disease characterized by progressive central nervous system degeneration manifest as severe intellectual disability (ID), developmental regression, and other neurologic manifestations including autism spectrum disorder (ASD), behavioral problems, and sleep disturbances. Disease onset is typically before age ten years. Disease course may be rapidly or slowly progressive; some individuals with an extremely attenuated disease course present in mid-to-late adulthood with early-onset dementia with or without a history of ID. Systemic manifestations can include musculoskeletal problems (joint stiffness, contractures, scoliosis, and hip dysplasia), hearing loss, respiratory tract and sinopulmonary infections, and cardiac disease (valvular thickening, defects in the cardiac conduction system). Neurologic decline is seen in all affected individuals; however, clinical severity varies within and among the four MPS III subtypes (defined by the enzyme involved) and even among members of the same family. Death usually occurs in the second or third decade of life secondary to neurologic regression or respiratory tract infections.|GeneReviews|N|
C0086648|Mucopolysaccharidosis type III (MPS III) is a multisystem lysosomal storage disease characterized by progressive central nervous system degeneration manifest as severe intellectual disability (ID), developmental regression, and other neurologic manifestations including autism spectrum disorder (ASD), behavioral problems, and sleep disturbances. Disease onset is typically before age ten years. Disease course may be rapidly or slowly progressive; some individuals with an extremely attenuated disease course present in mid-to-late adulthood with early-onset dementia with or without a history of ID. Systemic manifestations can include musculoskeletal problems (joint stiffness, contractures, scoliosis, and hip dysplasia), hearing loss, respiratory tract and sinopulmonary infections, and cardiac disease (valvular thickening, defects in the cardiac conduction system). Neurologic decline is seen in all affected individuals; however, clinical severity varies within and among the four MPS III subtypes (defined by the enzyme involved) and even among members of the same family. Death usually occurs in the second or third decade of life secondary to neurologic regression or respiratory tract infections.|GeneReviews|N|
C0086649|Mucopolysaccharidosis type III (MPS III) is a multisystem lysosomal storage disease characterized by progressive central nervous system degeneration manifest as severe intellectual disability (ID), developmental regression, and other neurologic manifestations including autism spectrum disorder (ASD), behavioral problems, and sleep disturbances. Disease onset is typically before age ten years. Disease course may be rapidly or slowly progressive; some individuals with an extremely attenuated disease course present in mid-to-late adulthood with early-onset dementia with or without a history of ID. Systemic manifestations can include musculoskeletal problems (joint stiffness, contractures, scoliosis, and hip dysplasia), hearing loss, respiratory tract and sinopulmonary infections, and cardiac disease (valvular thickening, defects in the cardiac conduction system). Neurologic decline is seen in all affected individuals; however, clinical severity varies within and among the four MPS III subtypes (defined by the enzyme involved) and even among members of the same family. Death usually occurs in the second or third decade of life secondary to neurologic regression or respiratory tract infections.|GeneReviews|N|
C0086650|Mucopolysaccharidosis type III (MPS III) is a multisystem lysosomal storage disease characterized by progressive central nervous system degeneration manifest as severe intellectual disability (ID), developmental regression, and other neurologic manifestations including autism spectrum disorder (ASD), behavioral problems, and sleep disturbances. Disease onset is typically before age ten years. Disease course may be rapidly or slowly progressive; some individuals with an extremely attenuated disease course present in mid-to-late adulthood with early-onset dementia with or without a history of ID. Systemic manifestations can include musculoskeletal problems (joint stiffness, contractures, scoliosis, and hip dysplasia), hearing loss, respiratory tract and sinopulmonary infections, and cardiac disease (valvular thickening, defects in the cardiac conduction system). Neurologic decline is seen in all affected individuals; however, clinical severity varies within and among the four MPS III subtypes (defined by the enzyme involved) and even among members of the same family. Death usually occurs in the second or third decade of life secondary to neurologic regression or respiratory tract infections.|GeneReviews|N|
C0086651|The phenotypic spectrum of mucopolysaccharidosis IVA (MPS IVA) is a continuum that ranges from a severe and rapidly progressive early-onset form to a slowly progressive later-onset form. Children with MPS IVA typically have no distinctive clinical findings at birth. The severe form is usually apparent between ages one and three years, often first manifesting as kyphoscoliosis, genu valgum (knock-knee), and pectus carinatum; the slowly progressive form may not become evident until late childhood or adolescence, often first manifesting as hip problems (pain, stiffness, and Legg Perthes disease). Progressive bone and joint involvement leads to short stature, and eventually to disabling pain and arthritis. Involvement of other organ systems can lead to significant morbidity, including respiratory compromise, obstructive sleep apnea, valvular heart disease, hearing impairment, visual impairment from corneal clouding, dental abnormalities, and hepatomegaly. Compression of the spinal cord is a common complication that results in neurologic impairment. Children with MPS IVA have normal intellectual abilities at the outset of the disease.|GeneReviews|N|
C0086652|GLB1-related disorders comprise two phenotypically distinct lysosomal storage disorders: GM1 gangliosidosis and mucopolysaccharidosis type IVB (MPS IVB). The phenotype of GM1 gangliosidosis constitutes a spectrum ranging from severe (infantile) to intermediate (late-infantile and juvenile) to mild (chronic/adult). Type I (infantile) GM1 gangliosidosis begins before age 12 months. Prenatal manifestations may include nonimmune hydrops fetalis, intrauterine growth restriction, and placental vacuolization; congenital dermal melanocytosis (Mongolian spots) may be observed. Macular cherry-red spot is detected on eye exam. Progressive central nervous system dysfunction leads to spasticity and rapid regression; blindness, deafness, decerebrate rigidity, seizures, feeding difficulties, and oral secretions are observed. Life expectancy is two to three years. Type II can be subdivided into the late-infantile (onset age 1-3 years) and juvenile (onset age 3-10 years) phenotypes. Central nervous system dysfunction manifests as progressive cognitive, motor, and speech decline as measured by psychometric testing. There may be mild corneal clouding, hepatosplenomegaly, and/or cardiomyopathy; the typical course is characterized by progressive neurologic decline, progressive skeletal disease in some individuals (including kyphosis and avascular necrosis of the femoral heads), and progressive feeding difficulties leading to aspiration risk. Type III begins in late childhood to the third decade with generalized dystonia leading to unsteady gait and speech disturbance followed by extrapyramidal signs including akinetic-rigid parkinsonism. Cardiomyopathy develops in some and skeletal involvement occurs in most. Intellectual impairment is common late in the disease with prognosis directly related to the degree of neurologic impairment. MPS IVB is characterized by skeletal dysplasia with specific findings of axial and appendicular dysostosis multiplex, short stature (below 15th centile in adults), kyphoscoliosis, coxa/genu valga, joint laxity, platyspondyly, and odontoid hypoplasia. First signs and symptoms may be apparent at birth. Bony involvement is progressive, with more than 84% of adults requiring ambulation aids; life span does not appear to be limited. Corneal clouding is detected in some individuals and cardiac valvular disease may develop.|GeneReviews|N|
C0086664|A rare disorder that presents as a flat neural placode (at the level of the skin of the back) that is exposed to the environment. The lack of expansion of the subarachnoid space distinguishes this lesion from myelomeningocele.|SNOMEDCT_US|N|
C0086692|A neoplasm characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C0086696|The development of a neoplasm in response to medical or surgical treatment, induced by the treatment itself.|NCI|N|
C0086768|A rare syndrome characterized by severe watery diarrhea, hypokalemia, and achlorhydria. It is caused by the oversecretion of vasoactive intestinal peptide from the pancreatic islet cells.|NCI|N|
C0086769|A sudden episode of intense fear in a situation where there is no danger or apparent cause.|HPO|N|
C0086774|Paroxysmal cold hemoglobinuria (PCH) is a very rare subtype of autoimmune hemolytic anemia (AIHA, see this term), caused by the presence of cold-reacting autoantibodies in the blood and characterized by the sudden presence of hemoglobinuria, typically after exposure to cold temperatures.|ORDO|N|
C0086783|Sacs or reservoirs created to function in place of the COLON and/or RECTUM in patients who have undergone restorative proctocolectomy (PROCTOCOLECTOMY, RESTORATIVE).|MSH|N|
C0086795|Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. While affected individuals have traditionally been classified as having one of three MPS I syndromes (Hurler syndrome, Hurler-Scheie syndrome, or Scheie syndrome), no easily measurable biochemical differences have been identified and the clinical findings overlap. Affected individuals are best described as having either a phenotype consistent with either severe (Hurler syndrome) or attenuated MPS I, a distinction that influences therapeutic options. Severe MPS I. Infants appear normal at birth. Typical early manifestations are nonspecific (e.g., umbilical or inguinal hernia, frequent upper respiratory tract infections before age 1 year). Coarsening of the facial features may not become apparent until after age one year. Gibbus deformity of the lower spine is common and often noted within the first year. Progressive skeletal dysplasia (dysostosis multiplex) involving all bones is universal, as is progressive arthropathy involving most joints. By age three years, linear growth decreases. Intellectual disability is progressive and profound but may not be readily apparent in the first year of life. Progressive cardiorespiratory involvement, hearing loss, and corneal clouding are common. Without treatment, death (typically from cardiorespiratory failure) usually occurs within the first ten years of life. Attenuated MPS I. Clinical onset is usually between ages three and ten years. The severity and rate of disease progression range from serious life-threatening complications leading to death in the second to third decade, to a normal life span complicated by significant disability from progressive joint manifestations and cardiorespiratory disease. While some individuals have no neurologic involvement and psychomotor development may be normal in early childhood, learning disabilities and psychiatric manifestations can be present later in life. Hearing loss, cardiac valvular disease, respiratory involvement, and corneal clouding are common.|GeneReviews|N|
C0086873|Pseudo-pelade of Brocq is a rare hair abnormality characterized by onset in adulthood of soft, irregular, flesh-toned patches of alopecia primarily in the parietal and vertex portions of the scalp, without follicular hyperkeratosis or perifollicular inflammation.|ORDO|N|
C0086942|A fibrosarcoma, originally observed in a Plymouth Rock hen, now thought to be an expression of infection by certain viruses of the avian leukosis-sarcoma complex in the family|NCI|N|
C0086972|An indication that an individual is separated from the person with whom they were sharing a home.|NCI|N|
C0086973|Any of several bacterial diseases, usually caused by PASTEURELLA MULTOCIDA, marked by the presence of hemorrhagic areas in the subcutaneous tissues, serous membranes, muscles, lymph glands, and throughout the internal organs. The diseases primarily affect animals and rarely humans.|MSH|N|
C0086981|A constellation of symptoms that include abnormal dryness of the mouth, eyes and other mucous membranes. The condition is seen in patients with Sjogren syndrome, sarcoidosis, amyloidosis, and deficiencies of vitamins A and C.|NCI|N|
C0086982|An elaboration of the known or inferred interactions involved in a signal transduction pathway.|NCI|N|
C0087012|Atrophy affecting the cerebellum and the spinocerebellar tracts of the spinal cord.|HPO|N|
C0087031|An inflammatory disorder most often affecting children. It is characterized by the presence of arthritis, salmon-colored rash, spiking fevers, fatigue, and sore throats.|NCI|N|
C0087130|A measure of the inherent variability of repeated observation measurements of a quantity including quantities evaluated by statistical methods and by other means.|NCI|N|
C0087134|Individual does not have an active health insurance policy.|NCI|N|
C0087136|The person is not presently married. The marital history is not known or stated|LNC|N|
C0149505|Acute form of dacryoadenitis.|MONDO|N|
C0149506|Chronic form of dacryocystitis.|MONDO|N|
C0149507|Inflammation of the eye tissues posterior to the orbital septum, and generally secondary to an infection spread from adjacent sinuses. Signs and symptoms of the affected eye include sudden loss of vision, erythema, edema, decreased eye movement, and pain. Treatment is conducted via intravenous antibiotics, observation, and surgical intervention when necessary.|NCI|N|
C0149512|An acute form of sinusitis.|HPO|N|
C0149514|Inflammation of the large airways of the lung with rapid onset and short course usually associated with cough, mucus production, shortness of breath, wheezing, and chest tightness.|HPO|N|
C0149516|A chronic form of sinusitis.|HPO|N|
C0149518|Acute inflammation of the stomach.|NCI|N|
C0149519|A mild form of chronic hepatitis causing limited damage to the liver.|MSH|N|
C0149520|Acute inflammation of the gallbladder.|NCI|N|
C0149521|A chronic form of pancreatitis.|HPO|N|
C0149523|An acute infection of the bladder. It is usually caused by bacteria. Signs and symptoms include increased frequency of urination, pain or burning during urination, fever, cloudy or bloody urine, and suprapubic pain.|NCI|N|
C0149524|An acute inflammatory process that affects the prostate gland. It is caused by bacteria, most often Escherichia coli, Proteus mirabilis, Klebsiella, and Pseudomonas aeruginosa.|NCI|N|
C0149525|A concretion in the prostate.|NCI|N|
C0149526|A urticaria with a basis in a pathological type I hypersensitivity reaction.|MONDO|N|
C0149530|Congenital heart block (CHB) is a rare disorder of atrioventricular conduction, characterized by absence of conduction of atrial impulses to the ventricles with slower ventricular rhythm (atrioventricular dissociation). CHB can occur in association with immunological evidence of maternal connective disease (autoimmune CHD), fetal structural CHD or can be idiopathic.|ORDO|N|
C0149614|An abnormal growth in the ovary, fallopian tube, or surrounding connective tissue.|NCI|N|
C0149627|A neoplasm that arises from the penis and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C0149630|Aortic valve disease-2 (AOVD2) is characterized by bicuspid aortic valve (BAV) and dilation of the ascending aorta. Calcification of the valve and the aorta has been observed, and some patients exhibit coarctation of the aorta (Tan et al., 2012; Luyckx et al., 2019; Park et al., 2019).
For a general phenotypic description and a discussion of genetic heterogeneity of aortic valve disease, see AOVD1 (109730).|OMIM|N|
C0149632|An abnormality of the urinary bladder.|HPO|N|
C0149637|A malignant epithelial neoplasm arising from the lips.|NCI|N|
C0149640|A malignant epithelial neoplasm that arises from the cecum and invades through the muscularis mucosa into the submucosa. The vast majority are adenocarcinomas.|NCI|N|
C0149642|Inflammation of the cervical lymph nodes.|NCI|N|
C0149649|Blocking of a blood vessel by cholesterol-rich atheromatous deposits, generally occurring in the flow from a large artery to small arterial branches. It is also called arterial-arterial embolization or atheroembolism which may be spontaneous or iatrogenic. Patients with spontaneous atheroembolism often have painful, cyanotic digits of acute onset.|MONDO|N|
C0149651|Broadening of the soft tissues (non-edematous swelling of soft tissues) of the digital tips in all dimensions associated with an increased longitudinal and lateral curvature of the nails.|HPO|N|
C0149654|A disorder diagnosed in childhood or adolescence age group characterized by aggressive behavior, deceitfulness, destruction of property or violation of rules that is persistent and repetitive, and within a one year period.|NCI|N|
C0149662|Abnormal positioning of toe phalanges. Deformities of the lesser toes often occur gradually, though they can be brought on by trauma. The main adult sagittal plane deformities consist of claw toes, hammer toes and mallet toes. Axial plane deformities include crossover toes.|HPO|N|
C0149663|A splitting open of an anatomical structure, zone, or organ with the exposure or discharge of its content.|NCI|N|
C0149670|An inherited or acquired disorder that affects the metabolism of the carbohydrates. Representative examples include diabetes mellitus, glycogen storage disease, mucopolysaccharidoses, and lactose intolerance.|NCI|N|
C0149676|A finding in which there is a subnormal amount of an enzyme. Enzymes are proteins that are necessary in certain catabolic processes.|NCI|N|
C0149678|An infection that is caused by Epstein-Barr virus.|NCI|N|
C0149696|A detrimental reaction to a food, beverage, food additive, or compound found in foods that produces symptoms in one or more body organs and systems that is not mediated by an immune reaction.|HPO|N|
C0149699|A partial or complete breakage of the fibula.|HPO|N|
C0149700|Blockage of the normal flow of the contents in the stomach.|NCI|N|
C0149707|A finding indicating the presence of blood in the semen.|NCI|N|
C0149721|Enlargement or increased size of the heart left ventricle.|HPO|N|
C0149722|An atypical proliferation of atypical melanocytes in the dermal-epidermal junction, without infiltration of the papillary or reticular dermis. The melanocytic proliferation is associated with actinic damage and epidermal atrophy. It usually occurs in the sun-exposed skin of elderly people. It is a form of melanoma in situ.|NCI|N|
C0149725|An acute or chronic, viral or bacterial infectious process that affects the lower respiratory tract.|NCI|N|
C0149726|A mass in the lung seen on chest imaging is defined as an opacity greater than 3 cm in diameter (without regard to contour, border, or density characteristics).|HPO|N|
C0149727|A structural lymph node abnormality.|HPO|N|
C0149736|An abnormal growth in the neck.|NCI|N|
C0149741|The flow of fluid from the nipple of the breast.|NCI|N|
C0149745|Erosion of the mucous mebrane of the mouth with local excavation of the surface, resulting from the sloughing of inflammatory necrotic tissue.|HPO|N|
C0149754|An acute infection of the anterior portion of the eyelid and surrounding tissues.|NCI|N|
C0149756|Inflammation of the thick tissue on the bottom of the foot (plantar fascia) causing heel pain. The plantar fascia (also called plantar aponeurosis) are bands of fibrous tissue extending from the calcaneal tuberosity to the toes. The etiology of plantar fasciitis remains controversial but is likely to involve a biomechanical imbalance. Though often presenting along with heel spur, they do not appear to be causally related.|MONDO|N|
C0149770|A collection of pus in the area of the rectum.|HPO|N|
C0149771|A Rectocele results from a tear in the rectovaginal septum (which is normally a tough, fibrous, sheet-like divider between the rectum and vagina). Rectal tissue bulges through this tear and into the vagina as a hernia. There are two main causes of this tear|HPO|N|
C0149772|Any abnormality of the salivary glands, the exocrine glands that produce saliva.|HPO|N|
C0149777|A circumscribed area of pus or necrotic debris in the skin.|HPO|N|
C0149778|A bacterial infectious process affecting the soft tissues. A severe form caused by anaerobic or aerobic bacteria is associated with soft tissues necrosis and affects the subcutaneous adipose tissue, muscles, fascia, and the skin.|NCI|N|
C0149779|The conversion of mental experiences or states into physical symptoms.|NCI|N|
C0149781|Pneumothorax occurring without traumatic injury to the chest or lung.|HPO|N|
C0149782|A type of non-small cell lung carcinoma that is derived from stratified squamous epithelial cells.|HPO|N|
C0149793|A transient visual disturbance that is typically caused by a circulatory, ocular or neurological underlying condition.|HPO|N|
C0149797|Excessive granulation tissue at the base of the umbilicus after separation.|NCI|N|
C0149826|A neoplastic polyp that arises from the stomach. This category includes intestinal-type adenomatous polyps, gastric-type adenomas, and fundic gland polyps.|NCI|N|
C0149841|Benign recurrent intrahepatic cholestasis (BRIC) is a hereditary liver disorder characterized by intermittent episodes of intrahepatic cholestasis, generally without progression to chronic liver damage. BRIC is now believed to belong to a clinical spectrum of intrahepatic cholestatic disorders that ranges from the mild intermittent attacks in BRIC to the severe, chronic and progressive cholestasis seen in progressive familial intrahepatic cholestasis (PFIC; see this term).|ORDO|N|
C0149842|Inflammation of the eyelid due to overactivity of the sebaceous gland.|HPO|N|
C0149843|Conditions characterized by persistent brain damage or dysfunction as sequelae of cranial trauma. This disorder may result from diffuse axonal injury; intracranial hemorrhages; brain edema; and other conditions. Clinical features may include dementia; focal neurologic deficits; persistent vegetative state; akinetic mutism; or coma.|MONDO|N|
C0149845|A benign lung neoplasm characterized by the presence of a fibrovascular stroma lined by cuboidal to columnar cells. Patients are usually asymptomatic and it is incidentally discovered as a pulmonary nodule during chest X-ray examination. Surgical excision is curative.|NCI|N|
C0149846|An bursitis involving a pathogenic inflammatory response in the calcaneal tendon.|MONDO|N|
C0149854|Hemorrhage into the parenchyma of the cerebellum.|HPO|N|
C0149860|A partial or complete breakage of the coccyx.|HPO|N|
C0149862|A neoplasm that arises from the glandular epithelium of the colonic mucosa. It is characterized by a villous architectural pattern. The neoplastic glandular cells have dysplastic features.|NCI|N|
C0149866|Inflammation of the conjunctiva in a newborn due to chemical irritation which was acquired postnatally from iatrogenic causes.|NCI|N|
C0149869|Noninfectious variant with a clinical presentation similar to that of the acute disease but with less coryza.|SNOMEDCT_US|N|
C0149870|Stenosing tenosynovitis of the abductor pollicis longus and extensor pollicis brevis tendons in the first dorsal wrist compartment. The presenting symptoms are usually pain and tenderness at the radial styloid. The cause is almost always related to overuse injury or is associated with rheumatoid arthritis.|MONDO|N|
C0149871|Formation of a blot clot in a deep vein. The clot often blocks blood flow, causing swelling and pain. The deep veins of the leg are most often affected.|HPO|N|
C0149877|Brain damage related to a lowering of blood glucose below a critical level (around 30 mg/dl), which may lead to confusion, lethargy and delirium followed by seizures and coma. Prolonged hypoglycemia may lead to irreversible brain damage.|HPO|N|
C0149881|A disorder involving inflammation of the epididymis and testes.|MONDO|N|
C0149882|An acute inflammatory process affecting the esophageal wall.|NCI|N|
C0149886|A short generalized seizure, of a duration of <15 min, not recurring within 24 h, occurring during a febrile episode not caused by an acute disease of the nervous system intracranial infection or severe metabolic disturbance.|HPO|N|
C0149887|Slipped capital femoral epiphysis is defined as a posterior and inferior slippage of the proximal epiphysis of the femur onto the metaphysis (femoral neck), occurring through the physeal plate during the early adolescent growth spurt.|HPO|N|
C0149889|A pathologic tract that connects an opening in the anal canal to the perianal skin. In the vast majority of cases there is a history of perianal abscess.|NCI|N|
C0149910|A rare rheumatologic disease characterized by recurrent self-remitting episodes of acute monoarticular arthritis, often with a fixed periodicity, typically affecting the knee or another large joint, which develops an effusion over 12 to 24 hours with only mild to moderate pain and minimal signs of inflammation. Attacks last three to five days and may parallel menses in females. Systemic symptoms are absent, and no joint damage occurs.|ORDO|N|
C0149911|Hypercalcemia generally develops as a late complication of malignancy; its appearance has grave prognostic significance. It remains unclear, however, whether death is associated with hypercalcemic crisis (uncontrolled or recurrent progressive hypercalcemia) or with advanced disease. Symptoms include central nervous system impairment such as delirium with prominent symptoms of personality change, cognitive dysfunction, disorientation, incoherent speech, and psychotic symptoms such as hallucinations and delusions, smooth muscle hypotonicity, and altered cardiovascular function.|NCI|N|
C0149925|Small cell lung cancer (SCLC) is a type of highly malignant lung cancer that is composed of small ovoid cells. In the past, SCLC was called oat cell carcinoma because the microscopic appearance of the cells was felt to resemble oats. SLCLC usually originates near the bronchi and in many cases may grow and metastasize quickly.|HPO|N|
C0149927|A benign malformation of the lung that includes an abnormal mixture of tissue components such as cartilage, epithelium, fat, or muscle which are common to the lung but without preservation of the organ architecture.|HPO|N|
C0149931|Migraine is a chronic neurological disorder characterized by episodic attacks of headache and associated symptoms.|HPO|N|
C0149939|Renal damage and impaired renal function secondary to urinary tract obstruction.|NCI|N|
C0149940|Disease or damage involving the SCIATIC NERVE, which divides into the PERONEAL NERVE and TIBIAL NERVE (see also PERONEAL NEUROPATHIES and TIBIAL NEUROPATHY). Clinical manifestations may include SCIATICA or pain localized to the hip, PARESIS or PARALYSIS of posterior thigh muscles and muscles innervated by the peroneal and tibial nerves, and sensory loss involving the lateral and posterior thigh, posterior and lateral leg, and sole of the foot. The sciatic nerve may be affected by trauma; ISCHEMIA; COLLAGEN DISEASES; and other conditions. (From Adams et al., Principles of Neurology, 6th ed, p1363)|MONDO|N|
C0149948|Acute form of otitis externa.|MONDO|N|
C0149951|The presence of a fibroma of the ovary.|HPO|N|
C0149952|Ovarian torsion is a twisting of the ligaments that support the adnexa, cutting off the blood flow to the ovary.|HPO|N|
C0149955|A congenital anomaly in which the pancreas completely (or sometimes incompletely) encircles the second portion of duodenum and occasionally obstructs the more proximal duodenum.|HPO|N|
C0149958|A seizure that originates in one area of the brain that affects consciousness.|NCI|N|
C0149977|Partial dislocation of the head of the radius.|HPO|N|
C0149978|An adenocarcinoma arising from the rectum. It is more frequently seen in populations with a Western type diet and in patients with a history of chronic inflammatory bowel disease. Signs and symptoms include intestinal bleeding, anemia, and change in bowel habits. According to the degree of cellular differentiation, rectal adenocarcinomas are divided into well, moderately, and poorly differentiated. Histologic variants include mucinous adenocarcinoma, signet ring cell carcinoma, medullary carcinoma, serrated adenocarcinoma, cribriform comedo-type adenocarcinoma, and micropapillary adenocarcinoma.|NCI|N|
C0149983|Arthrosis, i.e., of degenerative joint disease, affecting the lumbar vertebral column.|HPO|N|
C0149985|The secondary stage of syphilis typically that is characterized by generalized rash (including palms and soles), mucocutaneous lesions, and lymphadenopathy. It usually begins one to two months after the primary stage.|NCI|N|
C0150005|A rare acquired skeletal muscle disease characterized by sudden onset of muscle weakness, tenderness, and pain during or following recovery from a viral illness. The most commonly reported underlying viral infections are influenza B and A, the latter being the significantly less frequent cause. Most cases occur in children. Symptoms are often limited to the calf muscles, but other muscle groups may be involved as well. The condition is typically self-limiting, resolving within several days, although rhabdomyolysis with renal failure and compartment syndrome have been reported.|ORDO|N|
C0150009|Increased chance of an incapacity to carry out physiological or psychological daily activities|CCC|N|
C0150011|Inability to clear secretions/obstructions in airway|CCC|N|
C0150012|Increased chance of material into trachea-bronchial passages|CCC|N|
C0150023|Conscious or unconscious attempt to disavow the knowledge or meaning of an event to reduce anxiety and/or fear, leading to the detriment of health.|NANDA-I|N|
C0150025|Lack of interest or engagement in leisure activities|CCC|N|
C0150027|Inadequate family response to problems or difficulties|CCC|N|
C0150028|Inability of family to function optimally|CCC|N|
C0150032|Increased chance of dehydration or fluid loss.|CCC|N|
C0150034|Imbalance of oxygen and carbon dioxide transfer between lung and vascular system|CCC|N|
C0150036|Prolonged feeling of great sorrow|CCC|N|
C0150038|Change in or modification of ability to manage health-related needs|CCC|N|
C0150041|Excessive feelings of despair; an intense state of despair; an overwhelming lack of hope.|HPO|N|
C0150042|Involuntary, unpredictable passage of urine|CCC|N|
C0150043|Involuntary passage of urine occurring at predictable intervals|CCC|N|
C0150045|Involuntary discharge of URINE that is associated with an abrupt and strong desire to void. It is usually related to the involuntary contractions of the detrusor muscle of the bladder (detrusor hyperreflexia or detrusor instability).|MSH|N|
C0150055|Persistent pain, usually defined as pain that has lasted longer than 3 to 6 months.|HPO|N|
C0150061|Exposure to or ingestion of dangerous products|CCC|N|
C0150072|Persistent negative evaluation of oneself|CCC|N|
C0150073|Negative evaluation of oneself in response to a loss or change|CCC|N|
C0150074|Change in or modification of ability to maintain one''s image of self|CCC|N|
C0150075|Change in or modification of the response to stimuli|CCC|N|
C0150076|Change in or modification of persons''s sexual response|CCC|N|
C0150079|Imbalance in the normal sleep/wake cycle|CCC|N|
C0150080|Persistent difficulties in the social uses of verbal and nonverbal communications. (DSM-V)|MSH|N|
C0150082|Increase chance of inadequate air for breathing|CCC|N|
C0150084|Change in or modification of thought and cognitive processes|CCC|N|
C0150085|Damage to the mucous membrane, cornea, integumentary system, muscular fascia, muscle, tendon, bone, cartilage, joint capsule, and/or ligament.|NANDA-I|N|
C0150088|Lack of awareness of one side of the body|CCC|N|
C0150312|Being or existing in a specified place or at the specified time.|NCI|N|
C0150583|The sounds of the fetal heart.|NCI|N|
C0150618|A record of the medical history and physical examination findings for a patient collected at the time of admission.|NCI|N|
C0150988|Localized thickening and tightness of the skin of the fingers or toes.|HPO|N|
C0150993|Small (typically about 1 mm or less in size) depressions on the dorsal nail surface.|HPO|N|
C0151175|WHAT: Gonococcal skin lesions.	Gonococcal Skin Lesions: hemorrhagic or vesicopustular skin lesions characteristically seen in disseminated gonococcal infections.	WHY:	The presence of gonococcal skin lesions in a patient with arthritis is highly suggestive of gonococcal arthritis.	HOW:	Two types of mature skin lesions are consistently seen in gonococcal bacteremia. One is a hemorrhagic (purpuric) papule. The other is a vesicopustular lesion on an erythematous base. Both lesions begin as pinpoint erythematous macules, and typically appear during the first day of symptoms in association with a febrile episode. The purpuric lesions do not blanch with local pressure and often are found on the palms and the soles. They last about a week gradually fading from a dark blue color to a dark brown and then a light brownish yellow color. The vesicopustular lesions evolve through papular, vesicular and pustular stages reaching a maximum diameter of about 2.5 cm. All these stages may be present at the same time. The mature lesion is elevated, slightly umbilicated and surrounded by an erythematous areola. It usually involutes after 4-5 days. The lesions are usually tender and are located on the distal parts of the extremities. The trunk of the body is generally not involved with either lesion. In some cases the purpuric element predominates, while in others the pustular predominates. Rarely, a third variant, a hemorrhagic bulla, will be the sole skin manifestation of gonococcal bacteremia.	REFS:	1) Holmes, KK; Counts, GW and Beaty, HN: Disseminated gonococcal infection. Ann Intern Med 74:979, 1971. 2) Ackerman, AB: Hemorrhagic bullae in gonococcemia. N Engl J Med 282:793, 1970. DN19233-3.|AIR|N|
C0151190|A type of purpura in which the lesions are raised (and can therefore be appreciated upon palpation).|HPO|N|
C0151205|Edema affecting the region situated around the orbit of the eye.|HPO|N|
C0151206|Pain or discomfort of the scalp elicited by palpation.|HPO|N|
C0151219|Inflammation of the cartilage of the nose.|HPO|N|
C0151241|A cardiac myxoma arising from the atrium.|NCI|N|
C0151295|A type of peripheral neuropathy that happens when there is damage to two or more different nerve areas characterized by peripheral neuropathy of both the motor and sensory nerves of at least two different nerve trunks. Different nerves are affected either simultaneously or sequentially.|HPO|N|
C0151311|Injury to any of the cranial nerves or their nuclei in the brain resulting in muscle weakness.|NCI|N|
C0151313|Peripheral neuropathy affecting the sensory nerves.|HPO|N|
C0151315|A sensation of tightness in the neck when attempting to move it, especially after a period of inactivity. Neck stiffness often involves soreness and difficulty moving the neck, especially when trying to turn the head to the side.|HPO|N|
C0151317|Presence of a protracted or persistent infection by a pathogen potentially related to an underlying abnormality of the immune system that is not able to clear the infection.|HPO|N|
C0151332|Tuberculosis caused by primary infection of or reactivation of latent Mycobacterium tuberculosis. Active tuberculosis characterized by clinical manifestation and active symptoms compatible with tuberculosis, and is distinct from latent tuberculosis infection that occurs without signs or symptoms of active disease.|MONDO|N|
C0151379|The presence in the serum of an autoantibody directed against the Fc portion of IgG.|HPO|N|
C0151435|A form of chronic arthritis that is found in some patients with inflammatory bowel disease.|NCI|N|
C0151436|A small-vessel vasculitis presenting with palpable purpura and urticarial lesions which predate the purpuric lesions most frequently observed on the legs. Systemic symptoms including fever, cough, haemoptysis, sinusitis, arthralgia, arthritis, myalgia, abdominal pain, diarrhoea, haematochezia, paraesthesia, weakness, and haematuria may be observed. Can be idiopathic (up to 50% of cases) or secondary to infection, medications (such as antituberculosis medication), collagen vascular diseases, or neoplasms.|SNOMEDCT_US|N|
C0151445|Raynaud phenomenon without a known underlying autoimmune disorder.|NCI|N|
C0151449|Sjogren syndrome without a concomitant systemic autoimmune disorder.|NCI|N|
C0151450|Sjogren syndrome that occurs with another systemic autoimmune disorder, such as systemic lupus erythematosus or rheumatoid arthritis.|NCI|N|
C0151453|None of the choices above are suitable.|NCI|N|
C0151463|A circumscribed area of pus or necrotic debris in the breast.|HPO|N|
C0151465|An encapsulated collection of pus and necrotic material within the renal parenchyma. The destruction of renal parenchyma is associated with suppurative/neutrophil-rich inflammation and necrosis.|HPO|N|
C0151467|A rare but severe condition caused by a sudden defective production of adrenal steroids (cortisol and aldosterone). It represents an emergency and may occur at any age. Steroid withdrawal is the most common cause in patients with chronic adrenal insufficiency. A precipitating illness, surgery without adrenal support, pregnancy, any acute or chronic disease, or acute trauma are other potential causes of an acute adrenal crisis. The disorder may result from an acute exacerbation of chronic primary adrenal insufficiency. Laboratory exams show signs of adrenal insufficiency (hypoglycemia, hyponatremia and elevated natriuresis, hyperkaliemia, hemoconcentration, hypochloremic metabolic acidosis and functional renal failure) confirmed by hypocortisolemia, increased adrenocorticotropic hormone (ACTH) and an insufficient response to rapid ACTH stimulation testing.|SNOMEDCT_US|N|
C0151468|The presence of a adenoma of the thyroid gland.|HPO|N|
C0151474|Increased sensitivity to the adverse effects of alcohol, which can include nasal congestion, skin flushes, heart dysrhythmias, nausea, vomiting, indigestion and headaches.|NCI|N|
C0151480|The presence of autoantibodies in the serum that react against nuclei or nuclear components.|HPO|N|
C0151491|An abnormality of the musculoskeletal system that is present at birth or detected in the neonatal period.|NCI|N|
C0151500|Adverse drug effects associated with CHOLINERGIC ANTAGONISTS. Clinical features include TACHYCARDIA; HYPERTHERMIA; MYDRIASIS, dry skin and dry mucous membranes, decreased bowel sounds and urinary retention in peripheral anticholinergic syndrome; and HALLUCINATIONS; PSYCHOSES; SEIZURES; and COMA in central anticholinergic syndrome.|MSH|N|
C0151514|Partial or complete wasting (atrophy) of the skin.|HPO|N|
C0151516|Developmental hypoplasia of the thyroid gland.|HPO|N|
C0151517|Third-degree atrioventricular (AV) block (also referred to as complete heart block) is the complete dissociation of the atria and the ventricles. Third-degree AV block exists when more P waves than QRS complexes exist and no relationship (no conduction) exists between them.|HPO|N|
C0151526|The birth of a baby of less than 37 weeks of gestational age.|HPO|N|
C0151529|Prolongation of the time taken for a standardized skin cut of fixed depth and length to stop bleeding.|HPO|N|
C0151539|An increased amount of nitrogen in the form of urea in the blood.|HPO|N|
C0151544|A malignant neoplasm that arises from the epithelium of any part of the digestive system. Representative examples include colorectal carcinoma, esophageal carcinoma, and pancreatic carcinoma.|NCI|N|
C0151546|A carcinoma arising in the oral cavity. Most oral cavity carcinomas are squamous cell carcinomas of the tongue, buccal mucosa, or gums. Less frequent morphologic variants include mucoepidermoid carcinoma and adenocarcinoma.|NCI|N|
C0151563|An abnormal prolongation (delay) in the time required by whole blood to produce a visible clot.|HPO|N|
C0151564|A type of rigidity in which a muscle responds with cogwheellike jerks to the use of constant force in bending the limb (i.e., it gives way in little, repeated jerks when the muscle is passively stretched).|HPO|N|
C0151572|An abnormally reduced response to stimulation of the cornea (by touch, foreign body, blowing air). The corneal reflex (also known as the blink reflex, normally results in an involuntary blinking of the eyelids.|HPO|N|
C0151577|A laboratory test finding that indicates decreased creatinine clearance.|NCI|N|
C0151578|A laboratory test result demonstrating an increased concentration of creatinine in a biological specimen.|NCI|N|
C0151579|The presence of crystals in the urine.|HPO|N|
C0151582|The presence of uric acid crystals in the urine.|HPO|N|
C0151583|An abnormality of the cerebrospinal fluid (CSF).|HPO|N|
C0151594|Passage of many stools containing blood.|HPO|N|
C0151598|A reduction in the expected therapeutic effect of a drug due to increased clearance.|NCI|N|
C0151599|A laboratory test result demonstrating an increased concentration of a specific drug.|NCI|N|
C0151603|An extreme form of generalized edema with widespread and massive edema due to effusion of fluid into the extracellular space.|HPO|N|
C0151604|A buildup of fluid that causes swelling in the soft tissues of the genital area.|HPO|N|
C0151610|An abnormal accumulation of fluid and swelling in the tongue.|HPO|N|
C0151611|Abnormality observed by electroencephalogram (EEG), which is used to record of the brain's spontaneous electrical activity from multiple electrodes placed on the scalp.|HPO|N|
C0151620|Encephalopathy resulting from hypertension.|NCI|N|
C0151622|A non-neoplastic or neoplastic disorder that affects the endometrium. Representative examples include endometritis, endometrial hyperplasia, and endometrial carcinoma.|NCI|N|
C0151628|Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at each end of a long bone, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone.|HPO|N|
C0151631|A reduced erythrocyte sedimentation rate (ESR). The ESR is a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. A decreased ESR may be seen in polycythemia or in certain blood diseases in which red blood cells have an irregular or smaller shape that causes slower settling.|HPO|N|
C0151632|An increased erythrocyte sedimentation rate (ESR). The ESR is a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. An elevation may indicate inflammation or may be caused by any condition that elevates fibrinogen.|HPO|N|
C0151636|Premature ventricular contractions (PVC) or ventricular extrasystoles are premature contractions of the heart that arise in response to an impulse in the ventricles rather than the normal impulse from the sinoatrial (SA) node.|HPO|N|
C0151638|A syndrome characterized by pancytopenia, immune deficiency and cutaneous malignancies.|MONDO|N|
C0151650|Renal fibrosis is the consequence of an excessive accumulation of extracellular matrix that occurs in virtually every type of chronic kidney disease.|HPO|N|
C0151654|Myocardial fibrosis is characterized by dysregulated collagen turnover (increased synthesis predominates over unchanged or decreased degradation) and excessive diffuse collagen accumulation in the interstitial and perivascular spaces as well as by phenotypically transformed fibroblasts, termed myofibroblasts.|HPO|N|
C0151662|Increase in the level of the enzyme gamma-glutamyltransferase in the blood, which catalyzes the transfer of a gamma glutamyl group from a gamma glutamyl peptide to another peptide, aminoacids, or water.|NCI|N|
C0151664|A rupture in the wall of any structure of the digestive system caused by traumatic or pathologic processes.|NCI|N|
C0151671|An abnormal resistance to glucose, i.e., a reduction in the ability to maintain glucose levels in the blood stream within normal limits following oral or intravenous administration of glucose.|HPO|N|
C0151683|Increased number of neutrophils circulating in blood.|HPO|N|
C0151684|A granuloma located in the skin.|NCI|N|
C0151685|A finding indicating a faster than normal rate of development.|NCI|N|
C0151686|Stature that is smaller than normal as expected for age.|NCI|N|
C0151691|An decreased concentration of high-density lipoprotein cholesterol in the blood.|HPO|N|
C0151692|Improper body tissue repair due to factors affecting one or more of the phases of wound healing, including hemostasis, inflammation, proliferation, and remodeling.|NCI|N|
C0151693|Hemorrhage and necrosis of the adrenal gland tissue. Bilateral and extensive hemorrhage may lead to acute adrenal insufficiency, shock, and death.|NCI|N|
C0151694|Bleeding originating from the colon.|NCI|N|
C0151699|Hemorrhage occurring within the skull.|HPO|N|
C0151701|Pulmonary hemorrhage is a bleeding within the lungs. Older children and adults may spit blood or bloody sputum. Neonates, infants and young children usually do not spit up blood. Anemia, pulmonary infiltrates, increasingling bloody return on BAL and the presence of hemosiderin-laden macrophages in broncho-alveolar lavage (BAL) fluid or lung biopsy can diagnose lung bleeding. Alveolar macrophages contain phagocytosed red blood cells and stain positive for hemosiderin, a product of hemoglobin degradation, after about 48-72 hours following pulmonary hemorraghe. Previous or recurrent bleeding can thus be distinguished from fresh events. A differentiation into local or diffuse is of importance. Also differentiate if pulmonary hemorrhage is due to a primary lung disorder or a manifestation of a systemic disease.|HPO|N|
C0151702|Bleeding occuring within a muscle|HPO|N|
C0151705|Bleeding originating in the retroperitoneal area.|NCI|N|
C0151718|An decreased concentration of cholesterol in the blood.|HPO|N|
C0151721|Familial male hypogonadism is a highly heterogeneous category from which some disorders such as Reifenstein syndrome (312300), Kallmann syndrome (see 308700), isolated gonadotropin deficiency, and some other entities can be separated. The presence of an autosomal recessive form is suggested by the occurrence of parental consanguinity (Nowakowski and Lenz, 1961).|OMIM|N|
C0151723|An abnormally decreased magnesium concentration in the blood.|HPO|N|
C0151731|Hepatic infarction is defined as areas of coagulative necrosis from hepatocyte cell death caused by local ischemia. Liver infarctions appear as hypoechoic nonvascular regions on conventional and Doppler sonography.|HPO|N|
C0151735|An intense reaction (usually immunologic) developing at the site of injection|NCI|N|
C0151739|A hole (perforation) in the wall of the small intestine.|HPO|N|
C0151740|An increase of the pressure inside the cranium (skull) and thereby in the brain tissue and cerebrospinal fluid.|HPO|N|
C0151742|An elevated amount of uptake on the radioactive iodine uptake (RAIU) test, which utilizes a radioisotope of iodine to measure how much iodine the thyroid gland absorbs from the blood. The radioactive marker is measured 4-6 hours and in some cases also 24 hours after administration of the radioactive marker.|HPO|N|
C0151744|A disorder of cardiac function caused by insufficient blood flow to the muscle tissue of the heart. The decreased blood flow may be due to narrowing of the coronary arteries, to obstruction by a thrombus, or less commonly, to diffuse narrowing of arterioles and other small vessels within the heart. Severe interruption of the blood supply to the myocardial tissue may result in necrosis of cardiac muscle (myocardial infarction).|NCI|N|
C0151746|An abnormal functionality of the kidney.|HPO|N|
C0151747|Abnormal function of the renal tubule. The basic functional unit of the kidney, the nephron, consists of a renal corpuscle attached to a renal tubule, with roughly 0.8 to 1.5 nephrons per adult kidney. The functions of the renal tubule include reabsorption of water, electrolytes, glucose, and amino acids and secretion of substances such as uric acid.|HPO|N|
C0151759|A clinical term used to describe hyperkeratotic epithelial white patches of the genital mucous membranes.--2004|NCI|N|
C0151763|Disruption of hepatocyte function due to liver injury.|NCI|N|
C0151766|Atypical results found on serum liver enzyme testing, which may indicate significant disease and/or disease progression.|NCI|N|
C0151772|The manifestation of psychotic symptoms, such as hallucinations or delusions, in the presence of mania.|NCI|N|
C0151773|A laboratory finding indicating decreased number of hematopoietic cells in the bone marrow. It may result from decreased proliferation of all or part of the hematopoietic series (erythroid, myeloid, and megakaryocytic). Microscopically, the hematopoietic cells are replaced by adipocytes.|NCI|N|
C0151779|Most melanomas affect only the outermost layer of skin (the epidermis). If a melanoma becomes thicker and involves multiple layers of skin, it can spread to other parts of the body (metastasize).\n\nMelanoma may develop from an existing mole or other normal skin growth that becomes cancerous (malignant); however, many melanomas are new growths. Melanomas often have ragged edges and an irregular shape. They can range from a few millimeters to several centimeters across. They can also be a variety of colors: brown, black, red, pink, blue, or white.\n\nA large number of moles or other pigmented skin growths on the body, generally more than 25, is associated with an increased risk of developing melanoma. Melanoma is also a common feature of genetic syndromes affecting the skin such as xeroderma pigmentosum. Additionally, individuals who have previously had melanoma are nearly nine times more likely than the general population to develop melanoma again. It is estimated that about 90 percent of individuals with melanoma survive at least 5 years after being diagnosed.\n\nMelanoma is a type of skin cancer that begins in pigment-producing cells called melanocytes. This cancer typically occurs in areas that are only occasionally sun-exposed; tumors are most commonly found on the back in men and on the legs in women. Melanoma usually occurs on the skin (cutaneous melanoma), but in about 5 percent of cases it develops in melanocytes in other tissues, including the eyes (uveal melanoma) or mucous membranes that line the body's cavities, such as the moist lining of the mouth (mucosal melanoma). Melanoma can develop at any age, but it most frequently occurs in people in their fifties to seventies and is becoming more common in teenagers and young adults.|MedlinePlus Genetics|N|
C0151786|Reduced strength of muscles.|HPO|N|
C0151787|Chornic neutropenia arising from an impaired proliferation and maturation of myeloid progenitor cells in the bone marrow.|HPO|N|
C0151798|The presence of cell death (necrosis) affecting the liver.|HPO|N|
C0151799|Skin and subcutaneous tissue necrosis (tissue death). Clinically, cutaneous necrosis may present as a painful and extremely tender black eschar (dead tissue found in a full-thickness wound) surrounded by dusky grey-red colored skin.|HPO|N|
C0151811|Slightly elevated lesions on or in the skin with a diameter of over 5 mm.|HPO|N|
C0151814|Complete blockage of blood flow through one of the CORONARY ARTERIES, usually from CORONARY ATHEROSCLEROSIS.|MSH|N|
C0151824|Painful sensation in the gallbladder region.|NCI|N|
C0151825|An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to bone.|HPO|N|
C0151827|An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the eye.|HPO|N|
C0151830|A painful sensation in the urethra.|NCI|N|
C0151854|An abnormality of platelets.|HPO|N|
C0151857|An increased white blood cell count in the cerebrospinal fluid.|HPO|N|
C0151860|An instance of porencephaly that is acquired during the lifetime of the individual.|MONDO|N|
C0151861|Abnormally increased excretion of porphyrins in the urine.|HPO|N|
C0151864|A disorder that is related to pregnancy. Representative examples include ectopic pregnancy, toxemia of pregnancy, and gestational trophoblastic tumor.|NCI|N|
C0151878|Increased time between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG).|HPO|N|
C0151879|Decreased time between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG).|HPO|N|
C0151889|Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.|HPO|N|
C0151891|Reduced pigmentation of the fundus, typically generalized. Fundoscopy may reveal a low level pigment in both RPE and choroid with clear visibility of choroidal vessels (pale/albinoid) or low pigment level in the RPE with deep pigment in choroid so that visible choroidal vessels are separated by deeply pigmented zones (tesselated/tigroid).|HPO|N|
C0151900|The concentration of iron in the blood circulation is above the upper limit of normal.|HPO|N|
C0151904|The concentration of aspartate aminotransferase (AST) in the blood circulation is above the upper limit of normal.|HPO|N|
C0151905|An abnormally high concentration in the circulation of alanine aminotransferase (ALT).|HPO|N|
C0151907|Abnormal skin coloration.|NCI|N|
C0151908|Skin characterized by the lack of natural or normal moisture.|HPO|N|
C0151923|Narrowing of the lumen of jejunum.|NCI|N|
C0151924|The narrowing or partial blockage of a portion of the small intestine.|HPO|N|
C0151934|A decreased ability to perceive flavor.|HPO|N|
C0151936|Disorders that are causes by overuse of tendons.|MONDO|N|
C0151937|Breakage (tear) of a tendon.|HPO|N|
C0151940|Hyperexcitability of the neuromuscular system related to abnormally low level of calcium in the blood, resulting in carpopedal or generalized spasms.|HPO|N|
C0151942|The formation of a blood clot inside an artery.|HPO|N|
C0151945|Formation of a blood clot (thrombus) inside a cerebral vein, causing the obstruction of blood flow.|HPO|N|
C0151966|Bleeding from a ruptured blood vessel in a duodenal ulcer.|NCI|N|
C0151970|Defect in the epithelium of the esophagus, essentially an open sore in the lining of the esophagus.|HPO|N|
C0151977|A circumscribed inflammatory and necrotic erosive lesion in the mucosa surface of the small intestine.|NCI|N|
C0151990|The presence of renal casts (cylindrical, cigar-shaped structures produced by the kidney in certain disease states) in the urine.|HPO|N|
C0151994|An increase in the overall dimensions or volume of the uterus compared to normal.|NCI|N|
C0151995|A morphologic variant of uterine corpus leiomyoma characterized by the presence of hyalinized or myxoid stroma, edema, cystic changes, hemorrhage, and calcifications.|NCI|N|
C0152002|Vasculitis (inflammation of blood vessels) in the kidney. Renal vasculitis can be observed with numerous disorders and presents clinically as rapidly progressive glomerulonephritis (RPGN) which is characterized by acute kidney injury (AKI), haematuria and proteinuria. Histological examination of the kidney reveals severe inflammation in the form of crescent formation, glomerular necrosis and vasculitis of small and medium sized vessels within the kidney.|HPO|N|
C0152009|An abnormality of leukocytes.|HPO|N|
C0152013|A carcinoma that arises from the lung and is characterized by the presence of malignant glandular epithelial cells. There is a male predilection with a male to female ratio of 2:1. Usually lung adenocarcinoma is asymptomatic and is identified through screening studies or as an incidental radiologic finding. If clinical symptoms are present they include shortness of breath, cough, hemoptysis, chest pain, and fever. Tobacco smoke is a known risk factor.|NCI|N|
C0152018|The presence of a carcinoma of the esophagus.|HPO|N|
C0152020|Decreased strength of the muscle layer of stomach, which leads to a decreased ability to empty the contents of the stomach despite the absence of obstruction.|HPO|N|
C0152021|Each of the heart defects associated with CCHD affects the flow of blood into, out of, or through the heart. Some of the heart defects involve structures within the heart itself, such as the two lower chambers of the heart (the ventricles) or the valves that control blood flow through the heart. Others affect the structure of the large blood vessels leading into and out of the heart (including the aorta and pulmonary artery). Still others involve a combination of these structural abnormalities.\n\nSome people with treated CCHD have few related health problems later in life. However, long-term effects of CCHD can include delayed development and reduced stamina during exercise. Adults with these heart defects have an increased risk of abnormal heart rhythms, heart failure, sudden cardiac arrest, stroke, and premature death.\n\nAlthough babies with CCHD may appear healthy for the first few hours or days of life, signs and symptoms soon become apparent. These can include an abnormal heart sound during a heartbeat (heart murmur), rapid breathing (tachypnea), low blood pressure (hypotension), low levels of oxygen in the blood (hypoxemia), and a blue or purple tint to the skin caused by a shortage of oxygen (cyanosis). If untreated, CCHD can lead to shock, coma, and death. However, most people with CCHD now survive past infancy due to improvements in early detection, diagnosis, and treatment.\n\nCritical congenital heart disease (CCHD) is a term that refers to a group of serious heart defects that are present from birth. These abnormalities result from problems with the formation of one or more parts of the heart during the early stages of embryonic development. CCHD prevents the heart from pumping blood effectively or reduces the amount of oxygen in the blood. As a result, organs and tissues throughout the body do not receive enough oxygen, which can lead to organ damage and life-threatening complications. Individuals with CCHD usually require surgery soon after birth.\n\nPeople with CCHD have one or more specific heart defects. The heart defects classified as CCHD include coarctation of the aorta, double-outlet right ventricle, D-transposition of the great arteries, Ebstein anomaly, hypoplastic left heart syndrome, interrupted aortic arch, pulmonary atresia with intact septum, single ventricle, total anomalous pulmonary venous connection, tetralogy of Fallot, tricuspid atresia, and truncus arteriosus.|MedlinePlus Genetics|N|
C0152025|A generalized disorder of peripheral nerves.|HPO|N|
C0152026|Inflammation of retinal blood vessels as manifested by perivascular sheathing or cuffing, vascular leakage and/or occlusion.|HPO|N|
C0152027|An interruption or alteration in the sensory activity or functions of the nervous system.|NCI|N|
C0152030|A mild inflammatory dermal tissue reaction; it can be caused by physical contact with an irritant or can be a local response to a systemic trigger.|NCI|N|
C0152031|The presence of swelling in a joint.|NCI|N|
C0152032|Difficulty in beginning the process of urination.|HPO|N|
C0152061|An infection that is caused by certain species of Rickettsia or Borrelia, which are transmitted to humans from infected lice; it is characterized by sudden fever, chills, headaches, myalgia, arthralgia, nausea, and possibly a rash. Symptoms usually persist for two to nine days, then disappear, with recurrence after several weeks if the patient remains untreated.|NCI|N|
C0152062|Spirillary rat-bite fever (RBF), also known as Sodoku (Japanese for so: rat and doku: poison), is caused by the Gram-negative bacillus <i>Spirillum minus</i> and is transmitted to humans through the bites and scratches of rats. The disease is mostly present in Asia.|ORDO|N|
C0152063|Streptobacillary rat-bite fever (RBF) is a systemic zoonosis caused by the aerobic Gram-negative bacterium <i>Streptobacillus moniliformis</i> and is transmitted to humans through the bites and scratches of infected rats.|ORDO|N|
C0152066|A chronic, fungal, subcutaneous infection endemic in rural regions in South America and Central America. The causal organism is Lacazia labol.|MONDO|N|
C0152067|A superficial mycosis that is a superficial fungal infection of the skin characterized by brown to black macules which usually occur on the palmar aspects of hands and occasionally the plantar and other surfaces of the skin, caused by Hortaea werneckii, which is a common saprophytic fungus believed to occur in soil, compost, humus and on wood in humid tropical and sub-tropical regions.|MONDO|N|
C0152068|An disease or disorder caused by infection with Echinococcus granulosus.|MONDO|N|
C0152069|A rare parasitic disorder that occurs after ingestion of eggs of <i>Echinococcus multilocularis</i> and characterized by an initial asymptomatic incubation period of many years followed by a chronic course where the clinical manifestations include epigastric pain and jaundice.|ORDO|N|
C0152071|An infection that is caused by the intestinal fluke Heterophyes heterophyes, which is most commonly found in Asia, the Middle East, and Africa, and which is transmitted via consumption of contaminated raw or undercooked fish. Symptoms typically range from asymptomatic to intermittent abdominal pain and diarrhea, with occasional ectopic infection.|NCI|N|
C0152072|An malaria caused by infection with Plasmodium ovale.|MONDO|N|
C0152079|A syndrome characterized by laceration in the posterior leaf of broad ligament along with abnormally mobile cervix.|MONDO|N|
C0152083|Arthropathy that is not permanent.|NCI|N|
C0152087|Joint disorders that are characterized by accumulation of microcrystals in and around the joint including in the SYNOVIAL FLUID. They are classified according to the chemical nature of the crystals such as CALCIUM PYROPHOSPHATE; basic CALCIUM PHOSPHATES; and monosodium urate (see URIC ACID).|MSH|N|
C0152088|A disease that presents as vertebral osteonecrosis typically affecting a thoracic vertebra with compression deformity, intravertebral vacuum cleft, and exaggerated kyphosis weeks to months after a minor traumatic injury.|MONDO|N|
C0152092|Dermatitis herpetiformis in children|MONDO|N|
C0152094|T-cell immunodeficiency with thymic aplasia (TIDTA) is an autosomal recessive disorder that is often detected at birth through newborn SCID screening with the finding of decreased T-cell receptor excision circles (TRECs). Affected individuals have selective hypo- or aplasia of the thymus, which results in T-cell immunodeficiency due to impaired T-cell development and increased susceptibility to viral infections. The phenotype is similar to T-/B+/NK+ SCID. Some patients may die in childhood; thymus transplantation may be curative (summary by Du et al., 2019).|OMIM|N|
C0152095|Trisomy 13, also called Patau syndrome, is a chromosomal condition associated with severe intellectual disability and physical abnormalities in many parts of the body. Individuals with trisomy 13 often have heart defects, brain or spinal cord abnormalities, very small or poorly developed eyes (microphthalmia), extra fingers or toes, an opening in the lip (a cleft lip) with or without an opening in the roof of the mouth (a cleft palate), and weak muscle tone (hypotonia). Due to the presence of several life-threatening medical problems, many infants with trisomy 13 die within their first days or weeks of life. Only five percent to 10 percent of children with this condition live past their first year.|MedlinePlus Genetics|N|
C0152096|Trisomy 18, also called Edwards syndrome, is a chromosomal condition associated with abnormalities in many parts of the body. Individuals with trisomy 18 often have slow growth before birth (intrauterine growth retardation) and a low birth weight. Affected individuals may have heart defects and abnormalities of other organs that develop before birth. Other features of trisomy 18 include a small, abnormally shaped head; a small jaw and mouth; and clenched fists with overlapping fingers. Due to the presence of several life-threatening medical problems, many individuals with trisomy 18 die before birth or within their first month. Five to 10 percent of children with this condition live past their first year, and these children often have severe intellectual disability.|MedlinePlus Genetics|N|
C0152097|A disease involving the diaphragm.|MONDO|N|
C0152099|Abdominal symptoms after removal of the gallbladder. The common postoperative symptoms are often the same as those present before the operation, such as colic, bloating, nausea, and vomiting. There is pain on palpation of the right upper quadrant and sometimes jaundice. The term is often used, inaccurately, to describe such postoperative symptoms not due to gallbladder removal.|MONDO|N|
C0152101|People with CCHD have one or more specific heart defects. The heart defects classified as CCHD include coarctation of the aorta, double-outlet right ventricle, D-transposition of the great arteries, Ebstein anomaly, hypoplastic left heart syndrome, interrupted aortic arch, pulmonary atresia with intact septum, single ventricle, total anomalous pulmonary venous connection, tetralogy of Fallot, tricuspid atresia, and truncus arteriosus.\n\nCritical congenital heart disease (CCHD) is a term that refers to a group of serious heart defects that are present from birth. These abnormalities result from problems with the formation of one or more parts of the heart during the early stages of embryonic development. CCHD prevents the heart from pumping blood effectively or reduces the amount of oxygen in the blood. As a result, organs and tissues throughout the body do not receive enough oxygen, which can lead to organ damage and life-threatening complications. Individuals with CCHD usually require surgery soon after birth.\n\nAlthough babies with CCHD may appear healthy for the first few hours or days of life, signs and symptoms soon become apparent. These can include an abnormal heart sound during a heartbeat (heart murmur), rapid breathing (tachypnea), low blood pressure (hypotension), low levels of oxygen in the blood (hypoxemia), and a blue or purple tint to the skin caused by a shortage of oxygen (cyanosis). If untreated, CCHD can lead to shock, coma, and death. However, most people with CCHD now survive past infancy due to improvements in early detection, diagnosis, and treatment.\n\nSome people with treated CCHD have few related health problems later in life. However, long-term effects of CCHD can include delayed development and reduced stamina during exercise. Adults with these heart defects have an increased risk of abnormal heart rhythms, heart failure, sudden cardiac arrest, stroke, and premature death.\n\nEach of the heart defects associated with CCHD affects the flow of blood into, out of, or through the heart. Some of the heart defects involve structures within the heart itself, such as the two lower chambers of the heart (the ventricles) or the valves that control blood flow through the heart. Others affect the structure of the large blood vessels leading into and out of the heart (including the aorta and pulmonary artery). Still others involve a combination of these structural abnormalities.|MedlinePlus Genetics|N|
C0152105|Heart conditions that are caused by high blood pressure, including coronary artery disease and heart failure.|NCI|N|
C0152107|A pericarditis characterized by inflammation, occurring after injury, located in pericardium.|MONDO|N|
C0152108|An extrinsic allergic alveolitis caused by inhalation of cork dust containing the antigens produced by the fungus Penicillium glabrum. The symptoms include dyspnea, wheezing cough, fever and asthenia.|MONDO|N|
C0152109|Spinal muscular atrophy (SMA) is characterized by muscle weakness and atrophy resulting from progressive degeneration and irreversible loss of the anterior horn cells in the spinal cord (i.e., lower motor neurons) and the brain stem nuclei. The onset of weakness ranges from before birth to adulthood. The weakness is symmetric, proximal > distal, and progressive. Before the genetic basis of SMA was understood, it was classified into clinical subtypes based on maximum motor function achieved; however, it is now apparent that the phenotype of SMN1-associated SMA spans a continuum without clear delineation of subtypes. With supportive care only, poor weight gain with growth failure, restrictive lung disease, scoliosis, and joint contractures are common complications; however, newly available targeted treatment options are changing the natural history of this disease.|GeneReviews|N|
C0152110|Meralgia paresthetica is a condition characterized by tingling, numbness and burning pain in the outer thigh. These symptoms may become worse after walking or standing. The condition generally only affects one side of the body, although both sides may be involved in up to 20% of cases. Meralgia paresthetica is caused by compression of the lateral femoral cutaneous nerve (a sensory nerve to the skin on the outer thigh). This may be associated with a variety of causes such as tight clothing, obesity, and/or pregnancy. Treatment is based on the signs and symptoms present in each person and may include medications to manage pain. In most cases, conservative treatment by wearing looser clothing and/or losing weight generally resolves symptoms.|MONDO|N|
C0152112|Conditions which produce injury or dysfunction of the second cranial or optic nerve, which is generally considered a component of the central nervous system. Damage to optic nerve fibers may occur at or near their origin in the retina, at the optic disk, or in the nerve, optic chiasm, optic tract, or lateral geniculate nuclei. Clinical manifestations may include decreased visual acuity and contrast sensitivity, impaired color vision, and an afferent pupillary defect.|MONDO|N|
C0152113|A neurologic disorder characterized by smooth involuntary, uncoordinated movements affecting especially the hands, feet, and face. (ACC-AHA)|NCI|N|
C0152115|Syndromes which feature dyskinesias as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions.|MONDO|N|
C0152116|A rare movement disorder of unknown etiology, characterized by painful, involuntary turns of the head to the right, left, upwards, or downwards.|NCI|N|
C0152119|Alcohol induced paranoia.|SNOMEDCT_US|N|
C0152132|Retinopathy due to hypertension.|NCI|N|
C0152134|An abnormality of conjugate lateral gaze in which the affected eye shows impairment of adduction. The pathognomonic clinical sign of internuclear ophthalmoplegia is an impaired adduction while testing horizontal saccades on the side of the lesion in the ipsilateral medial longitudinal fascicule.|HPO|N|
C0152136|A form of glaucoma in which chronic optic nerve damage and loss of vision normally attributable to buildup of intraocular pressure occurs despite prevailing conditions of normal intraocular pressure.|MONDO|N|
C0152137|An abnormal condition characterized by an acute autoimmune reaction of the eye. It is caused by hypersensitivity of the eye to the protein of the crystalline lens and commonly follows trauma to the crystalline lens or cataract surgery. Associated symptoms include swelling and inflammation of the eye, severe pain, and blurred vision. The substance of the lens is invaded by polymorphonuclear cells and mononuclear phagocytes. Accurate diagnosis must differentiate between this condition and infectious endophthalmitis. Therapy is supportive and commonly includes the administration of corticosteroids and atropine. Refractory cases may require surgical removal of the lens.|MONDO|N|
C0152149|Painful sensation in one side of the abdomen between menstrual cycles, around the time of the discharge of the ovum from the ovarian follicle.|NCI|N|
C0152150|Maternal history of a pregancy with two fetuses in the uterus.|HPO|N|
C0152151|A pregnancy involving three fetuses.|NCI|N|
C0152152|A pregnancy involving four fetuses.|NCI|N|
C0152156|A physical barrier to the natural delivery of a baby.|NCI|N|
C0152158|Failure of secretion of milk following childbirth associated with an inability to breastfeed an infant.|HPO|N|
C0152159|Greater than 20 hours of labor in nulliparous women and greater than 14 hours in parous women.|NCI|N|
C0152164|A condition characterized by recurrent, self-limiting episodes of vomiting associated with intense nausea, pallor, and lethargy. It is commonly a migraine precursor.|NCI|N|
C0152169|Paroxysmal and severe flank pain radiating to the inguinal area. It is caused by the passage of a kidney stone through the ureter.|NCI|N|
C0152171|Increased blood pressure in the arteries of the lungs; the etiology is unknown.|MONDO|N|
C0152173|A potentially lethal cardiac arrhythmia characterized by an extremely rapid, hemodynamically unstable ventricular tachycardia (150-300 beats/min) with a large oscillating sine-wave appearance.|HPO|N|
C0152177|A non-neoplastic or neoplastic disorder affecting the trigeminal nerve (fifth cranial nerve).|NCI|N|
C0152179|A non-neoplastic or neoplastic disorder affecting the vagus nerve (tenth cranial nerve).|NCI|N|
C0152180|A non-neoplastic or neoplastic disorder affecting the accessory nerve (eleventh cranial nerve).|NCI|N|
C0152181|A non-neoplastic or neoplastic disorder affecting the hypoglossal nerve (twelfth cranial nerve).|NCI|N|
C0152183|Disorder characterized by discrete episodes of loss of control of aggressive impulses that may result in serious assault or destruction of property.|PSY|N|
C0152191|An area of depressed vision located at the point of fixation and that interferes with central vision.|HPO|N|
C0152194|A type of astigmatism in which the principle meridians are not 90 degrees apart and which is associated with loss of vision.|HPO|N|
C0152198|Disease that disrupts the process by which the vertebrate eye changes optical power to maintain a clear image or focus on an object as its distance varies.|MONDO|N|
C0152200|Achromatopsia is characterized by reduced visual acuity, pendular nystagmus, increased sensitivity to light (photophobia), a small central scotoma, eccentric fixation, and reduced or complete loss of color discrimination. All individuals with achromatopsia (achromats) have impaired color discrimination along all three axes of color vision corresponding to the three cone classes: the protan or long-wavelength-sensitive cone axis (red), the deutan or middle-wavelength-sensitive cone axis (green), and the tritan or short-wavelength-sensitive cone axis (blue). Most individuals have complete achromatopsia, with total lack of function of all three types of cones. Rarely, individuals have incomplete achromatopsia, in which one or more cone types may be partially functioning. The manifestations are similar to those of individuals with complete achromatopsia, but generally less severe. Hyperopia is common in achromatopsia. Nystagmus develops during the first few weeks after birth followed by increased sensitivity to bright light. Best visual acuity varies with severity of the disease; it is 20/200 or less in complete achromatopsia and may be as high as 20/80 in incomplete achromatopsia. Visual acuity is usually stable over time; both nystagmus and sensitivity to bright light may improve slightly. Although the fundus is usually normal, macular changes (which may show early signs of progression) and vessel narrowing may be present in some affected individuals. Defects in the macula are visible on optical coherence tomography.|GeneReviews|N|
C0152202|An instance of night blindness that is acquired during the lifetime of the individual.|MONDO|N|
C0152203|Strabismus in which the angle of deviation of the squiting eye remains the same in relation to the other eye, in all directions of gaze, and whichever eye is fixing.|HPO|N|
C0152204|A form of ocular misalignment characterized by an excessive convergence of the visual axes, resulting in a 'cross-eye' appearance. An example of this condition occurs when paralysis of the lateral rectus muscle causes an abnormal inward deviation of one eye on attempted gaze.|MONDO|N|
C0152205|Esotropia in which either eye may be used for fixation.|HPO|N|
C0152207|A type of exotropia in which either eye may be used for fixation.|HPO|N|
C0152208|A form of manifest strabismus (heterotropia) in which one eye is deviated downwards when both eyes are open.|HPO|N|
C0152209|A form of manifest strabismus (heterotropia) in which the one eye is wheel rotated so that the upper end of its vertical axis is nasal (incyclotropia) or temporal (excyclotropia).|HPO|N|
C0152216|A form of strabismus with both eyes turned inward to a relatively mild degree, usually defined as less than 10 prism diopters.|HPO|N|
C0152217|A form of strabismus with one or both eyes deviated outward to a milder degree than with exotropia.|HPO|N|
C0152219|A form of latent strabismus (heterophoria) in which the occluded eye wheel-rotates on dissociation.|HPO|N|
C0152220|A type of vertical phoria in which, in dissociation, the occluded eye deviates upwards.|HPO|N|
C0152221|An ocular deviation caused by a palsy to one or more of the extraocular muscles or nerves supplying them.|HPO|N|
C0152222|A rare syndrome affecting conjugate vertical eye movement. It is often caused by a dorsal midbrain neoplasm, commonly a pinealoma, but may also be attributable to demyelinating diseases or stroke. Clinical signs include limitation of upward gaze, light-near dissociation of the pupillary response, eyelid retraction (Collier''s sign) and convergence-retraction nystagmus. Clinical course is dependent on effective treatment of underlying cause.|NCI|N|
C0152226|A condition in which the eyelids do not close to cover the eye completely.|HPO|N|
C0152227|Abnormally increased lacrimation, that is, excessive tearing (watering eye).|HPO|N|
C0152230|A type of physical urticarias (or hives) that appears when a person is sweating.|MONDO|N|
C0152233|A congenital abnormality in which the margins of the upper and lower eyelids are fused together by bands of tissue.|NCI|N|
C0152234|Iniencephaly is a rare neural tube defect involving dysmorphic spine and abnormal fusion of the portion of the occipital skull with the back. It results in extreme fixed head retroflexion.|HPO|N|
C0152235|A rare congenital knee dislocation characterized by hyperextension of the knee greater than 0° associated with limited flexion, with prominence of the femoral condyles in the popliteal fossa and increased transverse skin folds over the anterior surface of the knee. It can be unilateral or bilateral and may occur as an isolated malformation, be associated with other orthopedic abnormalities (like developmental dysplasia of the hip or clubfoot) or be part of a syndrome (e. g. Larsen's syndrome).|ORDO|N|
C0152236|Outward turning of the heel, resulting in clubfoot with the person walking on the inner part of the foot.|HPO|N|
C0152237|Talipes calcaneovalgus is a flexible foot deformity (as opposed to a rigid congenital vertical talus foot deformity) that can either present as a positional or structural foot deformity depending on severity and/or causality. The axis of calcaneovalgus deformity is in the tibiotalar joint, where the foot is positioned in extreme hyperextension. On inspection, the foot has an "up and out" appearance, with the dorsal forefoot practically touching the anterior aspect of the ankle and lower leg.|HPO|N|
C0152238|A congenital anatomic anomaly in which the heart has only two chambers.|NCI|N|
C0152240|A congenital duplication of the UTERUS in which a septum is formed separating the uterus. The partitioning septum can also separate the CERVIX and VAGINA.|MSH|N|
C0152243|Single or multiple, milk-containing nodules in the breast. It is caused by obstruction of the breast ducts during lactation. Needle aspiration of the milk is the treatment of choice.|NCI|N|
C0152244|Aneurysmal bone cysts are benign primary or secondary lesions that are rapidly expansive and locally destructive. They are located in the posterior elements of the vertebral column or the flat or long bones of patients under 30 years of age. The cysts are blood-filled and separated by septa containing spindle cells, trabeculae of bone, and osteoclastic giant cells (Biesecker et al., 1970). Histopathologically and radiographically, aneurysmal bone cysts are similar to telangiectatic osteosarcoma from which they must be differentiated.|OMIM|N|
C0152246|A separation of the iris from the ciliary body.|NCI|N|
C0152250|A thrombophlebitis that is characterized by repeated occurances of thrombophlebitis in different locations.|MONDO|N|
C0152252|Adhesions between the iris and the cornea.|HPO|N|
C0152253|Adhesions between the iris and the lens.|HPO|N|
C0152254|Acumulation of adipose tissue in intracytoplasmic or extracellular spaces.|NCI|N|
C0152255|A pinguecula is a yellowish to brown protruding lesion in the conjunctiva that is easily seen on the nasal and temporal sides of the cornea.|HPO|N|
C0152256|a form of osteoporosis due to immobilization or inactivity.|CSP|N|
C0152258|A form of hypermature cataract formed by liquefaction of the cortex and sinking of the dense nucleus to the bottom of the capsular bag.|MONDO|N|
C0152262|A reactive inflammatory disorder affecting the bladder. It is characterized by the development of small cysts in the bladder wall. The cysts are lined by urothelial cells.|NCI|N|
C0152264|Polycythemia that occurs in groups of related individuals.|NCI|N|
C0152266|A subtype of classic Hodgkin lymphoma with scattered Reed-Sternberg and Hodgkin cells in a diffuse or vaguely nodular mixed inflammatory background without nodular sclerosing fibrosis. (WHO, 2008)|NCI|N|
C0152267|A diffuse subtype of classic Hodgkin lymphoma which is rich in Hodgkin and Reed-Sternberg cells and/or depleted in non-neoplastic lymphocytes. (WHO, 2008)|NCI|N|
C0152268|A subtype of classic Hodgkin lymphoma characterized by collagen bands that surround at least one nodule, and Hodgkin and Reed-Sternberg cells with lacunar type morphology. (WHO, 2008)|NCI|N|
C0152276|A tumor mass composed of myeloblasts, neutrophils and neutrophil precursors. Granulocytic sarcoma is the most common type of myeloid sarcoma. (WHO, 2001)|NCI|N|
C0152413|Pneumonia that is attributed to the respiratory syncytial virus.|NCI|N|
C0152415|Ankyloglossia, commonly known as 'tongue-tie,' is a congenital anomaly that occurs predominantly in males and is characterized by an abnormally short lingual frenulum. The phenotype varies from absence of clinical significance to rare complete ankyloglossia where the ventral part of the tongue is fused to the floor of the mouth (Klockars, 2007). Some patients also exhibit absence of lower incisors (Acevedo et al., 2010).|OMIM|N|
C0152416|A rare malformation consisting of a membrane-like structure that extends across the laryngeal lumen close to the level of the vocal cords.|ORPHANET|N|
C0152417|A rare aortic malformation of variable severity and clinical presentation. Clinical presentations range from a neonatal severe presentation often associated with sudden cardiac death, to a slowly progressive stenosis that presents later with cardiac murmur, chest pain, dizziness, and loss of consciousness with exercise-induced exacerbations. Echocardiography reveals atresia or dysplasia of the aortic valve most commonly associated with a bicuspid morphology, restricted left ventricular outflow, and left ventricular hypertrophy.|ORDO|N|
C0152419|Non-continuity of the arch of aorta with an atretic point or absent segment.|HPO|N|
C0152421|Median longitudinal ear length greater than two standard deviations above the mean and median ear width greater than two standard deviations above the mean (objective); or, apparent increase in length and width of the pinna (subjective).|HPO|N|
C0152422|Absence of the crystalline lens of the eye as a result of a developmental defect.|HPO|N|
C0152423|Underdevelopment of the external ear.|HPO|N|
C0152424|The presence of only one working lower chamber in the heart, usually with a virtual absence of the ventricular septum and usually present in conjunction with double inlet left or right ventricle.|HPO|N|
C0152426|A neural tube defect in which both the brain and spinal cord remain open to varying degrees.|HPO|N|
C0152427|A congenital anomaly characterized by the presence of supernumerary fingers or toes.|HPO|N|
C0152436|A congenital disorder where the hymen (a membrane that surrounds or partially covers the external vaginal opening) does not have an opening and completely obstructs the vagina.|HPO|N|
C0152437|A polyp in the uterine cavity that is formed by placenta remnants.|NCI|N|
C0152438|A congenital skeletal deformity characterized by the elevation of one scapula (thus, one scapula is located superior to the other).|HPO|N|
C0152439|Splitting of the neuroretinal layers of the retina.|HPO|N|
C0152441|An anomaly related to partial closure, or failure of development of the ulnar side of the distal radial growth plate, which results in an arrest of epiphyseal growth of the medial and volar portions of the distal radius. This leads to shortening of the radius and relative overgrowth of the ulna.|HPO|N|
C0152442|A non-proliferative inflammatory disorder of the large duct (milk duct) of the breast; as such, it affects nipple and areola complex. The condition is characterized by focal dilatation of the lactiferous duct system is due to endoluminal changes, as well as the loss of duct wall elastin, leading to abnormally dilated and tortuous lactiferous ducts with associated periductal inflammation and fibrosis. Mammary duct ectasia may present with nipple discharge or palpable mass.|HPO|N|
C0152443|The presence of a diverticulum (sac or pouch) in the wall of the urethra.|HPO|N|
C0152444|Dilation of central canal from incomplete fusion of the posterior columns or persistence of the primitive large canal of the embryo.|HPO|N|
C0152451|A chronic, persistent inflammation of the glomeruli, which is slowly progressive, leading to impaired kidney function.|NCI|N|
C0152454|A partial or complete adhesion of the palpebral conjunctiva of the eyelid to the bulbar conjunctiva of the eyeball.|HPO|N|
C0152455|An eye disorder that results from vitamin A deficiency, with basis in disruption of maintenance of the specialized epithelial surfaces, leading to atrophic changes in the normal mucosal surface, with loss of goblet cells, and replacement of the normal epithelium by an inappropriate keratinized stratified squamous epithelium. In addition, the substantia propria of the cornea breaks down and liquefies, resulting in keratomalacia.|MONDO|N|
C0152456|A disorder characterized by a change in the gallbladder wall due to excess cholesterol.|MONDO|N|
C0152457|Grey-green or brownish-pigmented ring in the deep epithelial layers at the outer border of the cornea.|HPO|N|
C0152458|An abnormal white reflection from the pupil rather than the usual black reflection.|HPO|N|
C0152459|Thinned, erythematous, depressed bands of atrophic skin. Initially, striae appear as flattened and thinned, pinkish linear regions of the skin. Striae tend to enlarge in length and become reddish or purplish. Later, striae tend to appear as white, depressed bands that are parallel to the lines of skin tension. Striae distensae occur most often in areas that have been subject to distension such as the lower back, buttocks, thighs, breast, abdomen, and shoulders.|HPO|N|
C0152460|A chronic and progressive inflammatory process that affects the glans penis and the foreskin. It presents with white atrophic patches in the glans of penis and foreskin and it is often associated with the development of a sclerotic, whitish ring in the tip of the foreskin that may lead to phimosis. It is also known as lichen sclerosus of the penis.|NCI|N|
C0152486|Sepsis due to the presence of Salmonella bacteria in the bloodstream.|NCI|N|
C0152491|Osteomyelitis caused by infection with the bacteria, salmonella.|HPO|N|
C0152517|Gastroenteritis resulting from a viral infection.|NCI|N|
C0152586|Bronchiectasis that develops in patients with a history of pulmonary tuberculosis. It is usually associated with healed scars but occasionally may be seen in patients with active pulmonary tuberculosis.|NCI|N|
C0152600|A pneumothorax in which air enters into the pleural cavity.|MONDO|N|
C0152793|A tuberculosis that involves the urinary bladder.|MONDO|N|
C0152800|A tuberculosis that involves the ureter.|MONDO|N|
C0152814|An urogenital tuberculosis involving a pathogenic inflammatory response in the epididymis.|MONDO|N|
C0152889|Tuberculosis of the adrenal gland.|NCI|N|
C0152902|A tuberculosis that involves the esophagus.|MONDO|N|
C0152936|A plague in which the bacteria have entered the bloodstream.|MONDO|N|
C0152941|A tularemia that results in painful regional lymphadenopathy and an ulcerated skin lesion.|MONDO|N|
C0152944|A tularemia that results in inflammation of eye and swelling of lymph glands in front of the ear.|MONDO|N|
C0152945|An anthrax disease that results in infection located in mucosa of gastrointestinal tract, has material basis in Bacillus anthracis, which is transmitted by ingestion of anthrax-infected meat. The infection has symptom lesions, has symptom vomiting of blood, has symptom severe diarrhea, has symptom loss of appetite.|MONDO|N|
C0152952|An myocarditis caused by infection with Corynebacterium diphtheriae.|MONDO|N|
C0152953|A peritonitis which involves inflammation of peritoneal cavity by Corynebacterium diphtheriae.|MONDO|N|
C0152954|A cystits which involves inflammation and formation of a dense fibrous false membrane on the mucous membrane of the bladder.|MONDO|N|
C0152998|A poliomyelitis that does not exhibit paralysis.|MONDO|N|
C0153017|Inflammation of brain tissue caused by infection with the varicella-zoster virus (HERPESVIRUS 3, HUMAN). This condition is associated with immunocompromised states, including the ACQUIRED IMMUNODEFICIENCY SYNDROME. Pathologically, the virus tends to induce a vasculopathy and infect oligodendrocytes and ependymal cells, leading to CEREBRAL INFARCTION, multifocal regions of demyelination, and periventricular necrosis. Manifestations of varicella encephalitis usually occur 5-7 days after onset of HERPES ZOSTER and include HEADACHE; VOMITING; lethargy; focal neurologic deficits; FEVER; and COMA. (From Joynt, Clinical Neurology, 1996, Ch 26, pp29-32; Hum Pathol 1996 Sep;27(9):927-38)|MSH|N|
C0153042|A painful blister of the periungual skin that is caused by herpes simplex virus type 1 or 2.|NCI|N|
C0153062|A virus-induced exanthem|MONDO|N|
C0153064|An acute arboviral infection caused by an <i>alphavirus</i> of the <i>Togaviridae</i> family transmitted by an infected mosquito, that more frequently affects children and that is characterized by the presence of mild flulike symptoms (fever, chills, headache, nausea, vomiting, and anorexia) but that can progress to weakness, altered mental status, photophobia, mental confusion, seizures, somnolence, coma and/or even death. The disease can leave neurological sequelae, mainly in infants and children, such as seizures, spasticity or behavioral disorders.|ORDO|N|
C0153065|An acute arboviral infection caused by an <i>alphavirus</i> of the <i>Togaviridae</i> family transmitted by an infected mosquito, that is characterized by the onset of flulike symptoms including fever, chills, weakness, headache, vomiting, abdominal pain with diarrhea, myalgia, leucocytosis, and hematuria, rapidly progressing to diffuse central nervous system (CNS) involvement with confusion, somnolence, or even coma. Seizures, which may progress to status epilepticus and neurologic sequelae, cranial nerve palsies, and photophobia may occur. EEE is associated with a high rate of morbidity and mortality.|ORDO|N|
C0153066|An disease caused by infection with Murray Valley encephalitis virus.|MONDO|N|
C0153071|A group of viral illnesses that are vectored by mosquitoes, and that are characterized by increased susceptibility to bleeding diatheses.|NCI|N|
C0153112|A viral infectious disease that involves fever and bleeding disorder caused by Arenavirus.|MONDO|N|
C0153121|A malaria that involves infection with more than one species of Plasmodium at the same time.|MONDO|N|
C0153166|An infectious meningitis caused by infection with Treponema.|MONDO|N|
C0153168|An encephalitis caused by infection with Treponema.|MONDO|N|
C0153188|A stage of syphilis that occurs fifteen to thirty years after the initial infection; it can include gumma formation and cardiovascular or central nervous system involvement (neurosyphilis).|NCI|N|
C0153191|Acute form of gonococcal cystitis.|MONDO|N|
C0153192|Acute form of gonococcal prostatitis.|MONDO|N|
C0153193|Acute form of gonococcal epididymo-orchitis.|MONDO|N|
C0153194|Acute form of gonococcal seminal vesiculitis.|MONDO|N|
C0153195|Acute form of gonococcal cervicitis.|MONDO|N|
C0153205|Chronic form of gonococcal seminal vesiculitis.|MONDO|N|
C0153206|Chronic form of gonococcal cervicitis.|MONDO|N|
C0153208|Chronic form of gonococcal salpingitis.|MONDO|N|
C0153212|An iridocyclitis (disease) caused by infection with Neisseria gonorrhoeae.|MONDO|N|
C0153218|An bursitis caused by infection with Neisseria gonorrhoeae.|MONDO|N|
C0153219|An spondylitis caused by infection with Neisseria gonorrhoeae.|MONDO|N|
C0153246|A dermatophytosis that involves the hands.|MONDO|N|
C0153249|A superficial mycosis that is caused by Piedraia hortae and is manifested by a small firm black nodule involving the hair shaft.|MONDO|N|
C0153252|A fungal infection by any of the Candida species in two or more non-contiguous sterile body compartments.|NCI|N|
C0153259|A type of fungal meningitis caused by dissemination of coccidioides to basilar meninges.|HPO|N|
C0153277|An infectious meningitis caused by infection with Histoplasma capsulatum.|MONDO|N|
C0153278|An retinitis caused by infection with Histoplasma capsulatum.|MONDO|N|
C0153279|An pericarditis (disease) caused by infection with Histoplasma.|MONDO|N|
C0153285|A primary systemic mycosis that results in systemic fungal infection, has material basis in Pseudallescheria boydii, which results in formation of abscesses.|MONDO|N|
C0153299|Infection by Ancylostoma braziliense.|NCI|N|
C0153315|Infection of the prostate gland caused by Trichomonas vaginalis.|NCI|N|
C0153326|A rare parasitic disease caused by free-living amoebae belonging to the <i>Acanthamoeba</i>, <i>Naegleria</i> and <i>Balamuthia</i> genera, that are able to survive in an autonomous state in all natural environments and can also parasitize humans. In immunosuppressed individuals <i>Acanthamoeba</i> genus contamination leads to granulomatous amoebic encephalitis (also reported in association with species of the <i>Balamuthia</i> genus) together with other problems including cardiac, cutaneous and pulmonary manifestations, all of which influence the prognosis. In immunocompetent individuals, the <i>Naegleria fowleri</i> species is responsible for primary amoebic meningoencephalitis, the evolution of which is rapidly fatal.|ORDO|N|
C0153340|A primary or metastatic malignant neoplasm involving the lip.|NCI|N|
C0153349|A malignant neoplasm affecting the tongue. The vast majority of cases are carcinomas.|NCI|N|
C0153350|A primary or metastatic malignant neoplasm that affects the base of the tongue.|NCI|N|
C0153360|A malignant neoplasm that arises from the submandibular gland. The majority are carcinomas.|NCI|N|
C0153361|A rare malignant neoplasm that arises from the sublingual gland. The majority are carcinomas.|NCI|N|
C0153364|A primary or metastatic malignant neoplasm that affects the gums.|NCI|N|
C0153365|A cancer involving a gingiva of upper jaw.|MONDO|N|
C0153368|A primary or metastatic malignant neoplasm that affects the floor of the mouth. The majority of cases are carcinomas.|NCI|N|
C0153373|A primary or metastatic malignant neoplasm involving the buccal mucosa.|NCI|N|
C0153374|A cancer that involves the oral opening.|MONDO|N|
C0153375|A primary or metastatic malignant neoplasm that affects the hard palate.|NCI|N|
C0153376|A primary or metastatic malignant neoplasm that affects the soft palate.|NCI|N|
C0153377|A primary or metastatic malignant neoplasm that affects the uvula.|NCI|N|
C0153378|A primary or metastatic malignant neoplasm that affects the hard palate, soft palate, or uvula.|NCI|N|
C0153379|A malignant form of neoplasm of retromolar area.|MONDO|N|
C0153381|A primary or metastatic malignant neoplasm that affects the lip and/or oral cavity. The majority of cases are carcinomas.|NCI|N|
C0153382|A primary or metastatic malignant neoplasm that affects the oropharynx.|NCI|N|
C0153384|A cancer involving a tonsillar fossa.|MONDO|N|
C0153385|A cancer that involves the tonsillar pillar.|MONDO|N|
C0153386|A cancer involving a epiglottic vallecula.|MONDO|N|
C0153392|A primary or metastatic malignant neoplasm involving the nasopharynx.|NCI|N|
C0153398|A primary or metastatic malignant neoplasm that affects the hypopharynx.|NCI|N|
C0153400|A primary or metastatic malignant neoplasm that affects the pyriform sinus.|NCI|N|
C0153401|A malignant neoplasm involving the aryepiglottic fold.|MONDO|N|
C0153405|A primary or metastatic malignant neoplasm that affects the pharynx.|NCI|N|
C0153406|A malignant neoplasm involving the tonsillar ring.|MONDO|N|
C0153411|A primary or metastatic malignant neoplasm involving the thoracic region of the esophagus.|NCI|N|
C0153413|A primary or metastatic malignant neoplasm involving the upper third segment of the esophagus.|NCI|N|
C0153414|A primary or metastatic malignant neoplasm involving the middle third segment of the esophagus.|NCI|N|
C0153415|A primary or metastatic malignant neoplasm involving the lower third segment of the esophagus.|NCI|N|
C0153417|A malignant neoplasm involving the cardia of stomach.|MONDO|N|
C0153418|A primary or metastatic malignant neoplasm that affects the pylorus.|NCI|N|
C0153419|A malignant neoplasm involving the pyloric antrum.|MONDO|N|
C0153425|A primary or metastatic malignant neoplasm involving the small intestine.|NCI|N|
C0153426|A primary or metastatic malignant neoplasm that affects the duodenum. Representative examples include carcinoma, lymphoma, and sarcoma.|NCI|N|
C0153427|A primary or metastatic malignant neoplasm that affects the jejunum.|NCI|N|
C0153428|A primary or metastatic malignant neoplasm involving the ileum.|NCI|N|
C0153429|A cancer involving a Meckel's diverticulum.|MONDO|N|
C0153433|A malignant neoplasm involving the hepatic flexure of colon.|MONDO|N|
C0153434|A malignant neoplasm involving the transverse colon.|MONDO|N|
C0153435|A malignant neoplasm involving the descending colon.|MONDO|N|
C0153436|A malignant neoplasm involving the sigmoid colon.|MONDO|N|
C0153437|A primary or metastatic malignant neoplasm that affects the cecum. Representative examples include carcinoma, lymphoma, and sarcoma.|NCI|N|
C0153439|A malignant neoplasm involving the ascending colon.|MONDO|N|
C0153440|A malignant neoplasm involving the splenic flexure of colon.|MONDO|N|
C0153443|A primary or metastatic malignant neoplasm that affects the rectosigmoid area. Representative examples include carcinoma, lymphoma, and sarcoma.|NCI|N|
C0153445|A malignant neoplasm involving the anal canal|MONDO|N|
C0153446|A primary or metastatic malignant neoplasm that affects the anal canal or perianal skin. Representative examples include carcinomas, lymphomas, and melanomas.|NCI|N|
C0153452|A primary or metastatic malignant neoplasm that affects the gallbladder. Representative examples include carcinoma, lymphoma, melanoma, and sarcoma.|NCI|N|
C0153453|A primary or metastatic malignant neoplasm that affects the extrahepatic bile ducts. Representative examples include carcinoma and sarcoma.|NCI|N|
C0153454|A primary or metastatic malignant neoplasm involving the ampulla of Vater.|NCI|N|
C0153465|A primary or metastatic malignant neoplasm involving the retroperitoneum. The vast majority of cases are carcinomas, lymphomas, or sarcomas.|NCI|N|
C0153467|A primary or metastatic malignant neoplasm involving the peritoneum. Representative examples include carcinoma and malignant mesothelioma.|NCI|N|
C0153470|A malignant neoplasm affecting the spleen. Representative examples include leukemias, lymphomas, and sarcomas.|NCI|N|
C0153474|A primary or metastatic malignant neoplasm involving the paranasal sinuses.|NCI|N|
C0153476|A primary or metastatic malignant neoplasm involving the maxillary sinus.|NCI|N|
C0153477|A primary or metastatic malignant neoplasm involving the ethmoid sinus.|NCI|N|
C0153478|A primary or metastatic malignant neoplasm involving the frontal sinus.|NCI|N|
C0153479|A primary or metastatic malignant neoplasm involving the sphenoid sinus.|NCI|N|
C0153483|A malignant neoplasm that affects the glottic area of the larynx. The vast majority of cases represent squamous cell carcinomas.|NCI|N|
C0153484|A malignant neoplasm that affects the supraglottic area of the larynx. The vast majority of cases are squamous cell carcinomas.|NCI|N|
C0153485|A malignant neoplasm that affects the subglottic area of the larynx. The vast majority of cases are squamous cell carcinomas.|NCI|N|
C0153486|A malignant neoplasm involving the laryngeal cartilage.|MONDO|N|
C0153489|A primary or metastatic malignant neoplasm involving the trachea.|NCI|N|
C0153490|A malignant neoplasm involving the main bronchus.|MONDO|N|
C0153494|A primary or metastatic malignant neoplasm affecting the pleura. A representative example of primary malignant pleural neoplasm is the malignant pleural mesothelioma. A representative example of metastatic malignant neoplasm to the pleura is metastatic carcinoma that has spread to the pleura from another anatomic site.|NCI|N|
C0153500|A primary or metastatic malignant neoplasm involving the heart.|NCI|N|
C0153502|A malignant neoplasm involving the posterior mediastinum.|MONDO|N|
C0153504|A primary or metastatic malignant neoplasm affecting the mediastinum. Representative examples of primary malignant mediastinal neoplasms include malignant germ cell tumors, malignant mesenchymal tumors, lymphomas, and malignant peripheral nerve sheath tumors. A representative example of metastatic malignant neoplasm to the mediastinum is the metastatic carcinoma to the mediastinum from another anatomic site.|NCI|N|
C0153511|A primary or metastatic malignant neoplasm that affects the mandible.|NCI|N|
C0153554|A cancer that involves the UBERON:0035289.|MONDO|N|
C0153560|A Kaposi sarcoma arising from the skin. It presents with patches, plaques, or nodules.|NCI|N|
C0153562|Kaposi sarcoma arising from the palate.|NCI|N|
C0153564|A Kaposi sarcoma arising from the lung.|NCI|N|
C0153567|Primary or metastatic malignant neoplasm involving the uterine corpus and/or the cervix.|NCI|N|
C0153569|A malignant neoplasm that affects the endocervix.|NCI|N|
C0153570|A malignant neoplasm that affects the exocervix.|NCI|N|
C0153572|A primary or metastatic neoplasm that affects the placenta.|NCI|N|
C0153574|A malignant neoplasm that affects the uterine corpus. Representative examples include endometrial carcinoma, carcinosarcoma, leiomyosarcoma, and adenosarcoma.|NCI|N|
C0153575|A cancer that involves the UBERON:0016632.|MONDO|N|
C0153579|A primary or metastatic malignant neoplasm that affects the fallopian tube. Representative examples include carcinoma, carcinosarcoma, and leiomyosarcoma.|NCI|N|
C0153581|A malignant neoplasm involving the parametrium.|MONDO|N|
C0153589|A malignant neoplasm that affects the clitoris.|NCI|N|
C0153594|A primary or metastatic malignant neoplasm that affects the testis. Representative examples include seminoma, embryonal carcinoma, sarcoma, leukemia, and lymphoma.|NCI|N|
C0153598|A malignant neoplasm involving the prepuce.|MONDO|N|
C0153599|A malignant neoplasm involving the glans penis.|MONDO|N|
C0153601|A primary or metastatic malignant neoplasm that affects the penis. Representative examples include penile carcinoma and penile sarcoma.|NCI|N|
C0153602|A primary or metastatic malignant neoplasm that affects the epididymis. Representative examples include primary epididymal adenocarcinoma and metastatic carcinoma to the epididymis arising from another anatomic site.|NCI|N|
C0153603|A primary or metastatic malignant neoplasm that affects the spermatic cord.|NCI|N|
C0153604|A primary or metastatic malignant neoplasm affecting the scrotum.|NCI|N|
C0153606|A primary or metastatic malignant neoplasm involving the male reproductive system. Representative examples include prostate carcinoma, penile carcinoma, testicular seminoma, and testicular embryonal carcinoma.|NCI|N|
C0153613|A malignant neoplasm involving the neck of urinary bladder.|MONDO|N|
C0153614|The opening of the ureter in the bladder that is situated at the lateral angle of the trigone.|NCI|N|
C0153615|A malignant neoplasm involving the urachus.|MONDO|N|
C0153618|A primary or metastatic malignant neoplasm that affects the renal pelvis.|NCI|N|
C0153619|A primary or metastatic malignant tumor involving the ureter. The majority are carcinomas.|NCI|N|
C0153620|A primary or metastatic malignant neoplasm involving the urethra.|NCI|N|
C0153621|A malignant neoplasm involving the paraurethral gland.|MONDO|N|
C0153626|A primary or metastatic malignant neoplasm involving the orbit.|NCI|N|
C0153627|A primary or metastatic malignant neoplasm affecting the lacrimal gland.|NCI|N|
C0153628|A primary or metastatic malignant neoplasm that affects the conjunctiva.|NCI|N|
C0153629|A primary or metastatic malignant neoplasm that affects the cornea.|NCI|N|
C0153630|A primary or metastatic malignant neoplasm that affects the choroid.|NCI|N|
C0153631|A primary or metastatic malignant neoplasm affecting the lacrimal duct.|NCI|N|
C0153633|A primary or metastatic malignant neoplasm affecting the brain.|NCI|N|
C0153636|A cancer that involves the temporal lobe.|MONDO|N|
C0153637|A malignant neoplasm involving the parietal lobe|MONDO|N|
C0153640|Primary and secondary (metastatic) malignant tumors that occur in the cerebellum. Histologic types include medulloblastomas, high grade (WHO Stage III or IV) cerebellar astrocytomas, lymphomas, gangliogliomas, gliosarcomas, and several other subtypes. The most frequent malignant cerebellar neoplasm of childhood is medulloblastoma. In adults, metastases from other sites are relatively common. Clinical features include ataxia, headache, nausea, dizziness, nystagmus, diplopia, papilledema, etc.|NCI|N|
C0153641|A primary or metastatic malignant neoplasm that affects the brain stem.|NCI|N|
C0153644|A primary or metastatic malignant neoplasm that affects a cranial nerve.|NCI|N|
C0153646|A primary or metastatic malignant neoplasm affecting the spinal cord. Representative examples include lymphoma, melanoma, and sarcoma.|NCI|N|
C0153647|A malignant neoplasm involving the meninx of spinal cord.|MONDO|N|
C0153653|A primary or metastatic malignant neoplasm affecting the parathyroid glands.|NCI|N|
C0153655|A malignant neoplasm that affects the pineal region.|NCI|N|
C0153656|A carotid body paraganglioma that metastasizes to other anatomic sites.|NCI|N|
C0153658|A malignant neoplasm affecting the endocrine glands. Representative examples include thyroid gland carcinoma, parathyroid gland carcinoma, pituitary gland carcinoma, and adrenal cortex carcinoma.|NCI|N|
C0153661|A primary or metastatic malignant neoplasm affecting the tissues of the thorax.|NCI|N|
C0153676|The spread of a malignant neoplasm to the lung. This may be from a primary lung malignant neoplasm, or from a malignant neoplasm at a distant site.|NCI|N|
C0153677|The spread of a malignant neoplasm to the mediastinum from an adjacent or distant anatomic site.|NCI|N|
C0153678|The spread of a malignant neoplasm to the pleura from an adjacent or distant anatomic site.|NCI|N|
C0153685|The spread of a malignant neoplasm to the kidney. This may be from a primary kidney malignant neoplasm involving the opposite kidney, or from a malignant neoplasm at a distant site.|NCI|N|
C0153687|The spread of a malignant neoplasm to the skin. This may be from a primary skin malignant neoplasm, or from a malignant neoplasm at a distant site.|NCI|N|
C0153690|The spread of a malignant neoplasm from a primary site to the skeletal system. The majority of metastatic neoplasms to the bone are carcinomas.|NCI|N|
C0153691|A malignant tumor that has spread to the adrenal gland from an adjacent or distant anatomic site. The majority of cases are metastatic carcinomas, and less frequently lymphomas.|NCI|N|
C0153702|An antiquated term that refers to a non-Hodgkin lymphoma composed of diffuse infiltrates of large, often anaplastic lymphocytes affecting the spleen.|NCI|N|
C0153710|An antiquated term that refers to a non-Hodgkin lymphoma composed of small and medium sized lymphocytes affecting the spleen.|NCI|N|
C0153734|An obsolete term that includes cases currently classified as nodular lymphocyte predominant Hodgkin lymphoma with splenic involvement.|NCI|N|
C0153767|Ann Arbor Classification: Stage III: Involvement of lymph node regions on both sides of the diaphragm (III), which also may be accompanied by extralymphatic extension in association with adjacent lymph node involvement (IIIE) or by involvement of the spleen (IIIS) or both (IIIE,S).|NCI|N|
C0153775|Ann Arbor Classification: Stage III: Involvement of lymph node regions on both sides of the diaphragm (III), which also may be accompanied by extralymphatic extension in association with adjacent lymph node involvement (IIIE) or by involvement of the spleen (IIIS) or both (IIIE,S).|NCI|N|
C0153783|Ann Arbor Classification: Stage III: Involvement of lymph node regions on both sides of the diaphragm (III), which also may be accompanied by extralymphatic extension in association with adjacent lymph node involvement (IIIE) or by involvement of the spleen (IIIS) or both (IIIE,S).|NCI|N|
C0153789|Ann Arbor Classification: Stage II: Involvement of two or more lymph node regions on the inferior side of the diaphragm (II) or localized involvement of a single associated extralymphatic organ or site and its regional lymph node(s) with or without involvement of other lymph node regions on the same side of the diaphragm (IIE). Note: The number of lymph node regions involved may be indicated by a subscript.|NCI|N|
C0153790|Stage I Hodgkin lymphoma involving the subdiaphragmatic region.|NCI|N|
C0153791|A rare Hodgkin lymphoma that arises from the spleen.|NCI|N|
C0153792|Ann Arbor Classification: Stage III: Involvement of lymph node regions on both sides of the diaphragm (III), which also may be accompanied by extralymphatic extension in association with adjacent lymph node involvement (IIIE) or by involvement of the spleen (IIIS) or both (IIIE,S).|NCI|N|
C0153871|A finding of plasma cell leukemia that is not growing and responds to treatment.|NCI|N|
C0153876|A finding of acute lymphoblastic leukemia that is not growing and responds to treatment.|NCI|N|
C0153878|A finding of chronic lymphocytic leukemia that is not growing and responds to treatment.|NCI|N|
C0153886|A finding of acute myeloid leukemia that is not growing and responds to treatment.|NCI|N|
C0153888|A finding of chronic myelogenous leukemia, BCR-ABL1 positive that is not growing and responds to treatment.|NCI|N|
C0153892|A finding of myeloid sarcoma that is not growing and responds to treatment.|NCI|N|
C0153898|A finding of acute monocytic leukemia that is not growing and responds to treatment.|NCI|N|
C0153914|A finding of acute megakaryoblastic leukemia that is not growing and responds to treatment.|NCI|N|
C0153924|A leukemia that is in between acute and chronic leukemia and is characterized by a moderate duration or severity.|MONDO|N|
C0153932|A neoplasm that arises from the lip and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C0153933|A neoplasm that arises from the tongue and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C0153934|A neoplasm that arises from the floor of the mouth and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C0153936|A neoplasm that arises from the tonsil and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C0153938|A neoplasm that arises from the nasopharynx and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential. Nasopharyngeal angiofibroma is a representative example.|NCI|N|
C0153939|A neoplasm that arises from the hypopharynx and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C0153940|A neoplasm that arises from the pharynx and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C0153942|A neoplasm that arises from the esophageal wall and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C0153943|A neoplasm that arises from the stomach and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C0153944|A neoplasm that arises from the small intestine and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C0153952|A neoplasm that arises from the larynx and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C0153953|A neoplasm that arises from the trachea and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C0153955|A neoplasm that arises from the pleura and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C0153956|A neoplasm that arises from the mediastinum and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential. Representative examples include lipoma, leiomyoma, and schwannoma.|NCI|N|
C0153957|A neoplasm that arises from the heart and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential. Representative examples include atrial myxoma, cardiac lipoma, and cardiac fibroma.|NCI|N|
C0153968|A lipoma that involves the face.|MONDO|N|
C0153972|A lipoma that arises from the spermatic cord.|NCI|N|
C0153997|A neoplasm that arises from the cervix and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential. Representative examples include squamous papilloma, endocervical polyp, and rhabdomyoma.|NCI|N|
C0153998|A neoplasm that arises from the uterine corpus and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential. Representative examples include leiomyoma, adenomyoma, endometrial stromal nodule, and endometrial polyp.|NCI|N|
C0153999|A neoplasm that arises from the uterine corpus or cervix and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential. Representative examples include leiomyoma, adenomyoma, and endocervical polyp.|NCI|N|
C0154002|A neoplasm that arises from the vagina and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C0154003|A neoplasm that arises from the vulva and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential. Representative examples include cellular angiofibroma, melanocytic nevus, nodular hidradenoma, and Bartholin gland adenoma.|NCI|N|
C0154007|A neoplasm that arises from the testis and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C0154009|A neoplasm that arises from the prostate and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential. Representative examples include benign phyllodes tumor, leiomyoma, and fibroma.|NCI|N|
C0154010|A neoplasm that arises from the epididymis and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential. Representative examples include adenomatoid tumor and leiomyoma.|NCI|N|
C0154011|A neoplasm that arises from the scrotum and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C0154015|A neoplasm that arises from the renal pelvis and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C0154016|A neoplasm that arises from the ureter and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C0154017|A neoplasm that arises from the bladder and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C0154019|A neoplasm that arises from the urethra and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C0154023|A neoplasm that arises from the orbit and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C0154024|A neoplasm that arises from the lacrimal gland and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C0154025|A neoplasm that arises from the conjunctiva and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C0154026|A neoplasm that arises from the cornea and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C0154027|A neoplasm that arises from the retina and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C0154028|A neoplasm that arises from the choroid and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C0154034|A neoplasm that arises from the spinal cord and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C0154038|A neoplasm that arises from the thyroid gland and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C0154040|A neoplasm that arises from the adrenal gland and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C0154041|A neoplasm that arises from the parathyroid glands and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C0154043|A neoplasm that arises from the pineal region and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C0154050|A hemangioma arising from the brain and meninges.|NCI|N|
C0154051|A hemangioma arising from the retina.|NCI|N|
C0154052|A hemangioma arising from organs within the abdominal cavity.|NCI|N|
C0154054|A neoplasm that arises from the lymph nodes and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C0154059|Stage 0 includes: For squamous cell carcinoma: Tis (HGD), N0, M0, G1, GX, Tumor location: Any. For adenocarcinoma: Tis (HGD), N0, M0, G1, GX. Tis: High-grade dysplasia. N0: No regional lymph node metastasis. M0: No distant metastasis. G1: Well differentiated. GX: Grade cannot be assessed-stage grouping as G1. Tumor location: Location of the primary cancer site is defined by the position of the upper (proximal) edge of the tumor in the esophagus. (AJCC 7th ed.)|MONDO|N|
C0154060|A in situ carcinoma that involves the stomach.|MONDO|N|
C0154061|A in situ carcinoma that involves the colon.|MONDO|N|
C0154062|A in situ carcinoma that involves the rectum.|MONDO|N|
C0154064|Anal canal or perianal skin intraepithelial neoplasia with severe dysplasia.|NCI|N|
C0154069|A in situ carcinoma that involves the larynx.|MONDO|N|
C0154070|A carcinoma that arises from the tracheal mucosa and is confined to the epithelial layer without evidence of further tissue invasion.|NCI|N|
C0154073|Stage 0 includes: Tis, N0, M0. Tis: Carcinoma in situ. N0: No regional lymph node metastasis. M0: No clinical or radiographic evidence of distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C0154084|A in situ carcinoma that involves the breast.|MONDO|N|
C0154089|Stage 0 includes: Tis, N0, M0. Tis: Carcinoma in situ. cN0: No palpable or visibly enlarged inguinal lymph nodes. pN0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C0154091|Also known as carcinoma in situ of the urinary bladder or high grade intraurothelial neoplasia, this is a flat lesion of the transitional cell epithelium characterized by severe cytologic atypia. This lesion is confined to the urothelium, and is a precursor of invasive transitional cell carcinoma of the bladder. Stage 0is includes: Tis, N0, M0. Tis: Carcinoma in situ: "flat tumor". N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)|MONDO|N|
C0154094|A carcinoma in situ involving a eye.|MONDO|N|
C0154129|A neoplasm displaying morphologic, phenotypic, or genotypic characteristics that are clearly not benign but do not permit the establishment of a definitive diagnosis of malignancy. Such neoplasms may or may not eventually have a more aggressive clinical course. Representative examples include lymphoproliferations of uncertain malignant potential (e.g., lymphomatoid granulomatosis and lymphomatoid papulosis), borderline ovarian epithelial neoplasms (e.g., borderline ovarian endometrioid tumor and borderline ovarian mucinous tumor), borderline exocrine pancreatic neoplasm (e.g., pancreatic borderline intraductal papillary-mucinous neoplasm), and primary borderline peritoneal epithelial neoplasm.|NCI|N|
C0154162|A fibroinflammatory disorder of the thyroid gland, occuring more frequently in females, characterized a large, hard thyroid mass, and presenting with pressure symptoms (breathing difficul¼ties and dysphagia) or voice hoarseness and aphonia (impingement of recurrent laryngeal nerve). It can often be associated with extracervical fibroinflammatory disorders such as retroperitoneal fibrosis, primary scleroisng cholangitis and autoimmune diseases such as Hashimoto struma, Addison disease, and Biermer disease.|ORDO|N|
C0154199|A non-neoplastic or neoplastic disorder that affects the thymus. Representative examples include thymic hyperplasia, thymoma, and thymic carcinoma.|NCI|N|
C0154208|The inability of the ovaries to function.|MONDO|N|
C0154209|Abnormally high level of estrogen.|NCI|N|
C0154246|A genetic inborn error of metabolism characterized by the deficiency of one of the enzymes necessary for the urea cycle. It results in accumulation of ammonia in the body.|NCI|N|
C0154251|An inherited metabolic disorder caused by an enzyme deficiency, resulting in an inability to oxidize fatty acids for energy production.|NCI|N|
C0154254|A laboratory test result indicating abnormally high proliferation of gamma globulins in the blood originating from multiple cell lines.|NCI|N|
C0154271|Increased serum carotenoids.|NCI|N|
C0154275|A rare primary immunodeficiency characterized by recurrent and/or invasive bacterial, viral, and fungal infections, associated with low to absent blood IgM levels, while IgG, IgG subclasses, and IgA levels, as well as IgG antibody response to vaccinations, are normal. Patients may also present allergic diatheses, and the prevalence of autoimmune diseases is increased.|ORDO|N|
C0154301|An instance of thrombocytopenia that is acquired during the lifetime of the individual.|MONDO|N|
C0154304|Inflammation of the lymph nodes that is chronic in nature.|NCI|N|
C0154307|A chronic congestive enlargement of the spleen leading to the destruction of blood cells resulting in pancytopenia.|MONDO|N|
C0154437|A mood disorder that is characterized by mood reactivity (paradoxical anhedonia) and positivity, significant weight gain or increased appetite ("comfort eating"), excessive sleep or somnolence (hypersomnia), a sensation of heaviness in limbs known as leaden paralysis, and significant social impairment as a consequence of hypersensitivity to perceived interpersonal rejection.|MONDO|N|
C0154548|A dysfunction in biological function that is due to a psychological process.|NCI|N|
C0154549|Physical symptoms or physiological abnormalities that have a psychological origin, and which are usually mediated through the autonomic nervous systems and do not involve tissue damage.|NCI|N|
C0154551|A skin disorder for which mental factors play a causative role.|NCI|N|
C0154552|A dysfunction in genitourinary function that is due to a psychological process.|NCI|N|
C0154558|An endocrine disorder that is caused by abnormal mental function.|NCI|N|
C0154575|An eating disorder most commonly observed in infants characterized by the repeated regurgitation and rechewing of food for a period of at least one month; this behavior is not associated with a gastrointestinal or other medical reason.|NCI|N|
C0154583|Temporary but prolonged and maladaptive depressive signs and symptoms associated with a life event.|NCI|N|
C0154639|An infectious meningitis caused by infection with Streptococcus.|MONDO|N|
C0154652|Meningitis in which eosinophils predominate in the cerebrospinal fluid.|NCI|N|
C0154653|Chronic form of meningitis (disease).|MONDO|N|
C0154671|A neurodegenerative disease that involves the telencephalon.|MONDO|N|
C0154676|A focal dystonia of the fingers, hand, and/or forearm that appears when the affected person attempts to do a task that requires fine motor movements such as writing or playing a musical instrument.|HPO|N|
C0154681|Any anomaly of the anterior horn cell.|HPO|N|
C0154682|Primary lateral sclerosis (PLS) is an idiopathic non-familial motor neuron disease characterized by slowly progressive upper motor neuron dysfunction leading to spasticity, mild weakness in voluntary muscle movement, hyperreflexia, and loss of motor speech production.|ORDO|N|
C0154694|Unilateral paresis (weakness) with spasticity of the affected muscles and increased tendon reflexes.|HPO|N|
C0154698|Spastic weakness found in only one upper or lower extremity.|HPO|N|
C0154723|A type of migraine in which there is an aura characterized by focal neurological phenomena that usually proceed, but may accompany or occur in the absence of, the headache. The symptoms of an aura may include fully reversible visual, sensory, and speech symptoms but not motor weakness. Visual symptoms may include flickering lights, spots and lines and/or loss of vision and/or unilateral sensory symptoms such as paresthesias or numbness. At least one of the symptoms of an aura develops gradually over 5 or more minutes and/or different symptoms occur in succession.|HPO|N|
C0154724|A fluid filled sac within the cerebrum. It is can be congenital, trauma related or secondary to another medical condition for example an infarction.|NCI|N|
C0154731|A rare cranial neuralgia characterized by paroxysmal, usually unilateral stabbing pain within the sensory distributions of the auricular and pharyngeal branches of the glossopharyngeal and sometimes the vagus nerve (i. e. the posterior part of the tongue, the tonsillar fossa, oropharynx, larynx, angle of the mandible, and/or ear). The attacks last seconds to minutes with intervals between the paroxysms ranging from a few minutes to a few hours, and appear in clusters lasting weeks to months, again with irregular intervals in between. Pain attacks are usually triggered by a specific stimulus but may also occur spontaneously. The condition can sometimes be associated with bradycardia, syncope, seizures, and even asystole, and is then termed vagoglossopharyngeal neuralgia.|ORDO|N|
C0154735|A nerve plexus disease that involves the lumbosacral nerve plexus.|MONDO|N|
C0154741|A neuritis that involves the forelimb.|MONDO|N|
C0154743|Disease involving the ulnar nerve from its origin in the brachial plexus to its termination in the hand. Clinical manifestations may include paresis or paralysis of wrist flexion, finger flexion, thumb adduction, finger abduction, and finger adduction. Sensation over the medial palm, fifth finger, and ulnar aspect of the ring finger may also be impaired. Common sites of injury include the axilla, cubital tunnel at the elbow, and Guyon's canal at the wrist. (From Joynt, Clinical Neurology, 1995, Ch51 pp43-5)|MONDO|N|
C0154744|A peripheral nerve lesion that involves the radial nerve.|MONDO|N|
C0154747|A mononeuritis simplex that involves the hindlimb.|MONDO|N|
C0154748|A peripheral nerve lesion that involves the sciatic nerve.|MONDO|N|
C0154752|A peripheral nerve lesion that involves the plantar nerve.|MONDO|N|
C0154769|Damage to the muscle or its function secondary to toxic substances such as drugs used in CHEMOTHERAPY; IMMUNOTHERAPY; or RADIATION.|MSH|N|
C0154773|Acute form of endophthalmitis.|MONDO|N|
C0154774|Chronic form of endophthalmitis.|MONDO|N|
C0154775|A granulomatous, inflammatory disorder of the eye; reaction to vegetable or insect hairs.|SNOMEDCT_US|N|
C0154777|A neurodegenerative disease that involves the eye.|MONDO|N|
C0154778|A sub-type of myopia characterized by high myopia with any posterior myopia-specific pathology resulting from axial elongation.|NCI|N|
C0154822|A type of retinal detachment arising from damage to the outer blood-retinal barrier that allows fluid to access the subretinal space and separate the neurosensory retina from the retinal pigment epithelium.|HPO|N|
C0154823|An imperfection of the retina of the eye.|NCI|N|
C0154828|A type of retinal detachment arising due to a combination of contracting retinal membranes, abnormal vitreoretinal adhesions, and vitreous changes. It is usually seen in the context of diseases that induce a fibrovascular response, e.g. diabetes.|HPO|N|
C0154830|Advanced retinopathy due to diabetes mellitus characterized by the formation of new vessels in the retina. The new vessels are abnormal and fragile. If hemorrhage occurs due to the vascular fragility, there is increased risk of vision loss or blindness.|NCI|N|
C0154832|Coats disease (CD) is an idiopathic disorder characterized by retinal telangiectasia with deposition of intraretinal or subretinal exudates, potentially leading to retinal detachment and unilateral blindness. CD is classically an isolated and unilateral condition affecting otherwise healthy young children.|ORDO|N|
C0154833|Retinal damage resulting from diminished blood flow/oxygenation due to abnormalities of the retinal vessels. Causes include hypertension, diabetes, thrombosis, embolism, and hemorrhage.|NCI|N|
C0154834|A localized dilation of microvasculature formed due to disruption of the internal elastic lamina of a retinal capillary blood vessel. The lesions present as small circular, red dots having distinct margins and are no larger than a blood vessel width at the disk margin. This expansion disturbs the normal flow pattern, changing shear force and pressure along the vessel. Shear force plays a key role in promoting the differentiation and proliferation of endothelial cells.|HPO|N|
C0154835|Dilatation of small blood vessels of the retina.|HPO|N|
C0154839|A partial occlusion of the retinal artery.|NCI|N|
C0154840|A partial, temporary occlusion of the retinal artery.|NCI|N|
C0154841|Central retinal vein occlusion is an occlusion of the main retinal vein posterior to the lamina cribrosa of the optic nerve and is typically caused by thrombosis.|HPO|N|
C0154850|A form of macular degeneration characterized by the presence of multiple cysts in the macula.|HPO|N|
C0154860|An inherited form of retinal dystrophy.|NCI|N|
C0154866|A retinal dystrophy with etiology arising from Bruch's membrane, the site of drusen generation.|MONDO|N|
C0154874|Neuroretinitis is an inflammation of the neural retina and optic nerve. Pathology: Direct invasion or autoimmune activation against the optic nerve may cause optic nerve vascular inflammation with secondary inflammation and edema in the nerve fiber layer of the retina.|MONDO|N|
C0154884|Acute posterior multifocal placoid pigment epitheliopathy (APMPPE) is an acquired, inflammatory eye condition affecting the retina, retinal pigment epithelium (pigmented layer of the retina), and choroid. It usually affects both eyes and is characterized by multiple, yellow-white lesions in the back of the eye. The condition can significantly impair visual acuity if the macula is involved. APMPPE typically resolves on its own in weeks to months. While the cause is unknown, about a third of cases appear to develop after a flu-like illness. Non-ocular symptoms are uncommon, but cerebral vasculitis can be present and may cause permanent and/or severe neurological complications.|MONDO|N|
C0154911|A rare ophthalmic disorder characterized by inflammation primarily of the anterior part of the uvea (iris and ciliary body), due to an infectious etiology. Clinical symptoms are pain, redness, photophobia, and variable visual loss. Signs on examination include presence of inflammatory cells in the anterior chamber and anterior vitreous, keratic precipitates, hypopyon, iris nodules, posterior synechiae, and miosis, among others.|ORDO|N|
C0154916|Formation of new blood vessels on the iris. The new vessels do not display the typical radially symmertic growth pattern of normal iris blood vessels, but rather appear disorganized. Rubeosis usually starts from the pupillary border with tiny tufts of dilated capillaries or red spots that can only be appreciated with high magnification.|HPO|N|
C0154919|A rare disorder of the anterior segment of the eye characterized by spontaneous separation of the anterior layer of the iris stroma from the posterior stroma and muscle layers. The anterior layer then splits into strands, and the free ends float freely in the anterior chamber. The condition usually affects patients in the seventh decade of life and is often associated with glaucoma. It may begin on one side but is typically a bilateral disease. The inferior part of the iris is most commonly involved.|ORDO|N|
C0154920|An abnormal reduction in the amount of pigmentation of the iris.|HPO|N|
C0154936|An abnormality of the pupil.|HPO|N|
C0154946|Acute form of angle-closure glaucoma.|MONDO|N|
C0154947|Chronic form of angle-closure glaucoma.|MONDO|N|
C0154971|Presenile cataract is a kind of cataract that occurs in early adulthood, that is, at an age that is younger than usual.|HPO|N|
C0154980|A senile cataract that involves the lens cortex.|MONDO|N|
C0155015|Normal color vision in humans is trichromatic, being based on 3 classes of cone that are maximally sensitive to light at approximately 420 nm (blue cones; 613522), 530 nm (green cones; 300821), and 560 nm (red cones; 300822). Comparison by neural circuits of light absorption by the 3 classes of cone photoreceptors allows perception of red, yellow, green, and blue colors individually or in various combinations. Dichromatic color vision is severely defective color vision based on the use of only 2 types of photoreceptors, blue plus green (protanopia) or blue plus red (deuteranopia; see 303800). Anomalous trichromacy is trichromatic color vision based on a blue, green, and an anomalous red-like photoreceptor (protanomaly), or a blue, red, and an anomalous green-like photoreceptor (deuteranomaly). The color vision defect is generally mild but may in certain cases be severe. Common variation in red-green color vision exists among both normal and color-deficient individuals (review by Deeb, 2005).|OMIM|N|
C0155016|Difficulty with discriminating red and green hues.|HPO|N|
C0155017|Tritanopia is an autosomal dominant disorder of human vision characterized by a selective deficiency of blue spectral sensitivity (Weitz et al., 1992).|OMIM|N|
C0155018|Non-heritable difficulty in distinguishing colors.|NCI|N|
C0155072|A rare disorder of the anterior segment of the eye characterized by a unilateral or bilateral rapidly progressive, intractable, painful, ulcerative keratitis which initially affects the peripheral cornea and may spread circumferentially and then centrally. The destructive process involves stromal corneal tissue only, leaving the epithelium and endothelium largely unaffected. There is no involvement of the adjacent sclera. The condition can be complicated by glaucoma, cataract, and perforation.|ORPHANET|N|
C0155078|Injury to the cornea secondary to ultraviolet light.|NCI|N|
C0155091|An abscess of the cornea.|NCI|N|
C0155094|Superficial vascularization of the cornea with infiltration of granulation tissue; an inflammatory exudate overlying the lining layer of synovial cells on the inside of a joint.|NCI|N|
C0155100|Reduced transparency of the peripheral region of the cornea.|HPO|N|
C0155105|Stromal pigmentation such as that in ochronosis results from chronic irritation. The melanin is in the superficial stroma and the basal layer of the corneal epithelium.|MONDO|N|
C0155111|Keratopathy that is characterized by the presence of epithelial bullae.|NCI|N|
C0155116|Presence of folds in the Descemet membrane, which is the basement membrane of the endothelial (inner) cell layer of the cornea. Descemet membrane folds are generally a manifestation of inflammation or edema of the cornea.|HPO|N|
C0155119|The presence of recurrent corneal epithelial erosions. Although most corneal epithelial defects heal quickly, some may show recurrent ulcerations.|HPO|N|
C0155120|An abnormality of the cornea characterized by the deposition of calcium in a band across the central cornea, leading to decreased vision, foreign body sensation, and ocular irritation.|HPO|N|
C0155127|The presence of fine, branching linear opacities in Bowman's layer in the central area that may spread to the periphery in the clinical course. The deep corneal stroma may be involved but the process does not reach Descemet's membrane. Recurrent corneal erosion may occur. Histologic examination reveals amyloid deposits in the collagen fibers of the cornea.|HPO|N|
C0155141|Acute inflammation of the conjunctiva.|NCI|N|
C0155144|Conjunctivitis that is characterized by formation of a pseudomembrane.|NCI|N|
C0155145|Conjunctivitis that is persistent and long-standing.|NCI|N|
C0155149|A blepharoconjunctivitis that is characterized by fissuring, scaling, maceration and erythema of the lateral or medial canthal area.|MONDO|N|
C0155163|Pigmented lesions that arise from the conjunctiva include nevus, complexion-associated melanosis (CAM), primary acquired melanosis (PAM), and malignant melanoma.1,2All of these lesions arise from melanocytes. However, a number of other lesions have a similar appearance but a different source, such as pigment deposits from silver and iron.|MONDO|N|
C0155165|A granuloma located on the conjunctiva, usually involving the inner surface of the eyelid.|NCI|N|
C0155170|Abnormal fluid filled sac within the conjunctiva.|NCI|N|
C0155178|A allergic contact dermatitis that involves the eyelid.|MONDO|N|
C0155188|An abnormal inversion of the eyelid towards the globe resulting from inferior retractor muscle dysfunction with tissue laxity and, possibly, overriding of the preseptal orbicularis muscle over the pretarsal orbicularis muscle.|HPO|N|
C0155189|A type of entropion (abnormal inversion of the eyelid towards the globe) that is related to a mass effect of a lesion (e.g., a tumor) that pulls the eyelid margin away from the globe.|HPO|N|
C0155191|Abnormal inversion (turning inward) of the eyelid towards the globe associated with scarring that vertically shortens the posterior lamella of the eyelid.|HPO|N|
C0155194|An ectropion with a mechanical etiology.|MONDO|N|
C0155196|An outward turning (eversion) or rotation of the eyelid margin (i.e., ectropion) caused by shortening or contraction of the anterior or middle lamellae related to scarring.|HPO|N|
C0155197|A type of lagophthalmos that occurs in association with facial nerve palsy.|HPO|N|
C0155199|A type of lagophthalmos that occurs following trauma or surgery.|HPO|N|
C0155209|A neurodegenerative disease that involves the eyelid.|MONDO|N|
C0155210|The presence of xanthomata in the skin of the eyelid.|HPO|N|
C0155211|Over-production of pigment in the eyelid.|MONDO|N|
C0155212|Under-production of pigment in the eyelid.|MONDO|N|
C0155213|A hypertrichosis (disease) that involves the eyelid.|MONDO|N|
C0155214|A hypotrichosis that involves the eyelid.|MONDO|N|
C0155218|Localized swelling of the eyelid due to blockage of the meibomian glands, usually caused by inflammation.|NCI|N|
C0155219|Any non-neoplastic or neoplastic disorder affecting the arteries, veins, or lymphatic vessels of the eyelid.|NCI|N|
C0155223|Inflammation and enlargement of the lacrimal gland.|NCI|N|
C0155224|Chronic form of dacryoadenitis.|MONDO|N|
C0155237|Acute form of dacryocystitis.|MONDO|N|
C0155240|Chronic form of actinomycosis.|MONDO|N|
C0155241|A nasolacrimal duct obstruction presenting as a grey-blue cystic swelling just below the medial canthus. Believed to be a result of concomitant upper obstruction of the Rosenmuller valve and lower obstruction of the Hasner valve.|HPO|N|
C0155244|Punctal stenosis is a condition in which the external opening of the lacrimal canaliculus is narrowed or occluded.|HPO|N|
C0155262|A granuloma located on the orbit of the eye.|NCI|N|
C0155264|Progressive inflammation and damage to tissues around the eyes, especially extraocular muscle, connective, and fatty tissue occurring in patients with hyperthyroidism or a history of hyperthyroidism due to Graves’ disease.|MONDO|N|
C0155285|Presence of a cyst in the region of the periorbital tissues. Orbital cysts can be derived from epithelial or glandular tissue within or surrounding the orbit (lacrimal glands, salivary glands, conjunctival, oral, nasal, or sinus epithelium).|HPO|N|
C0155286|A myopathy that involves the extra-ocular muscle.|MONDO|N|
C0155287|A disorder of the neural pathway from the optic nerve to the visual cortex.|NCI|N|
C0155299|A cleft of the optic nerve that extends inferiorly.|HPO|N|
C0155300|Apparent optic disc swelling in the absence of increased intracranial pressure.|HPO|N|
C0155301|Acute form of retrobulbar neuritis.|MONDO|N|
C0155302|A disease with basis in optic nerve damage secondary to a toxic substance and/or nutritional deficiency.|MONDO|N|
C0155303|Damage to the eye or its function (e.g., VISUAL IMPAIRMENT) due to OPTIC NERVE damage secondary to toxic substances such as drugs used in CHEMOTHERAPY; IMMUNOTHERAPY; or RADIATION.|MSH|N|
C0155305|Ischemic injury to the OPTIC NERVE which usually affects the OPTIC DISK (optic neuropathy, anterior ischemic) and less frequently the retrobulbar portion of the nerve (optic neuropathy, posterior ischemic). The injury results from occlusion of arterial blood supply which may result from TEMPORAL ARTERITIS; ATHEROSCLEROSIS; COLLAGEN DISEASES; EMBOLISM; DIABETES MELLITUS; and other conditions. The disease primarily occurs in the sixth decade or later and presents with the sudden onset of painless and usually severe monocular visual loss. Anterior ischemic optic neuropathy also features optic disk edema with microhemorrhages. The optic disk appears normal in posterior ischemic optic neuropathy. (Glaser, Neuro-Ophthalmology, 2nd ed, p135)|MSH|N|
C0155306|Blood extravasation in the optic nerve sheath.|NCI|N|
C0155307|A disease that involves the optic chiasma.|MONDO|N|
C0155320|Visual impairment due to visual cortex dysfunction.|NCI|N|
C0155336|A form of esotropia (convergent deviation of the eyes) associated with activation of the accommodative reflex.|HPO|N|
C0155338|Paralysis of both the extrinsic and intrinsic ocular muscles.|HPO|N|
C0155339|Brown syndrome, originally described by Brown (1950), is characterized by the inability to elevate the adducted eye actively or passively. There is less elevation deficit with the eye in midposition, and minimal or no deficit in abduction. There can also be divergence on upgaze, downshoot, or widening of the palpebral fissure on adduction, primary hypotropia, and anomalous head posture. Brown syndrome accounts for approximately 2% of strabismus cases. Ten percent of cases are bilateral, and left- and right-sided unilateral cases are equal in frequency. There is no gender predilection (summary by Heidary et al., 2012).|OMIM|N|
C0155354|A rare form of necrotizing anterior scleritis without pain in which the sclera is notably white, avascular and thin. Both choroidal exposure and staphyloma formation may occur.|MONDO|N|
C0155359|A staphyloma is a localized defect in the eye wall with protrusion of uveal tissue due to alterations in scleral thickness and structure.|HPO|N|
C0155360|A localized defect in the posterior eye wall with protrusion of uveal tissue due to alterations in scleral thickness and structure.|HPO|N|
C0155365|Any disease affecting the vitreous body of the eye.|NCI|N|
C0155379|Nystagmus due to disturbance of the vestibular system; eye movements are rhythmic, with slow and fast components.|HPO|N|
C0155388|A non-neoplastic or neoplastic disorder that affects the pinna and/or the ear canal. Representative examples include infection and carcinoma.|NCI|N|
C0155389|An otitis externa involving infection of the tissue surrounding the cartilage of the earlobe (pinna), ear canal, or both. It may be caused by injury, burns, insect bites, ear piercing, or a boil on the ear. The common bacterial causative agent is Pseudomonas aeruginosa. Symptoms include redness, pain, fever, swelling of the earlobe and pus accumulation between the cartilage and the layer of connective tissue around it.|MONDO|N|
C0155390|Acute form of perichondritis of auricle.|MONDO|N|
C0155391|Chronic form of perichondritis of auricle.|MONDO|N|
C0155392|An otitis externa which involves bacterial infections often related to underlying comorbidities as well as trauma. Common sources of trauma include ear piercing, boxing, blunt trauma, burns, bite wounds and iatrogenic insults. The common bacterial pathogens are staphylococcal and streptococcal species.|MONDO|N|
C0155395|An otitis externa which involves infection of the external ear that has spread to involve the skull bone containing part of the ear canal, the middle ear, and the inner ear. It is caused by the bacteria Pseudomonas. This is common in people with weakened immune systems and in older people with diabetes.|MONDO|N|
C0155396|Chronic form of otomycosis.|MONDO|N|
C0155398|A cholesteatoma (disease) that involves the external ear.|MONDO|N|
C0155411|A benign bony growth projecting outward from a bone surface within the external auditory canal.|HPO|N|
C0155415|A acute transudative otitis media with thin, watery and sterile effusion.|MONDO|N|
C0155418|A acute serous otitis media caused by an allergen.|MONDO|N|
C0155419|A blue drum syndrome caused by an allergen.|MONDO|N|
C0155420|A acute sanguinous otitis media caused by an allergen.|MONDO|N|
C0155421|Chronic form of serous otitis media.|MONDO|N|
C0155428|An inflammatory disease involving a pathogenic inflammatory response in the pharyngotympanic tube.|MONDO|N|
C0155429|Acute form of otosalpingitis.|MONDO|N|
C0155430|Chronic form of otosalpingitis.|MONDO|N|
C0155434|A eustachian tube disorder with a wider eustachian tube which allows a larger bolus of bacteria-laden material from the nasopharynx during an infection to enter the middle ear, causing a more fulminant infection.|MONDO|N|
C0155440|A suppurative otitis media which is an inflammatory disease of the middle ear cleft characterized by the presence of a persisting perforation within the pars tensa of the tympanic membrane, intermittent profuse muco-purulent otorrhea and gradually progressive conductive hearing loss of more than 12 weeks duration. It is caused by episodes of upper respiratory infections.|MONDO|N|
C0155441|A chronic purulent otitis media which involves perforation in the attic region (pars flaccida of the tympanic membrane) or at the posterosuperior margin, with in-growth of squamous epithelium into the middle ear. This is caused as a result of poor ventilation of the middle ear and episodes of infection.|MONDO|N|
C0155448|Inflammation of petrous bone.|MONDO|N|
C0155461|A tympanic membrane disease that is characterized by blisters on the eardrum resulting from infection.|MONDO|N|
C0155478|An auditory system disease that is characterized by a thin retracted ear drum becomes sucked into the middle-ear space and stuck (i.e., adherent) to the ossicles and other bones of the middle ear.|MONDO|N|
C0155489|A cholesteatoma in the attic|MONDO|N|
C0155490|A non-neoplastic lesion characterized by the proliferation of keratinizing squamous epithelium in the middle ear that results in the accumulation of keratin and cells. It is usually caused by repeated infections. If left untreated, it may increase in size and destroy the adjacent delicate bones of the middle ear.|NCI|N|
C0155492|As accumulation of granulation tissue in the middle ear that results from the degeneration of blood and a chronic inflammatory response.|NCI|N|
C0155502|Benign recurrent vertigo (BRV), also known as benign paroxysmal positional vertigo (BPPV), is a common disorder affecting up to 2% of the adult population. The majority of individuals with chronic recurrent vertigo have no identifiable cause, no progression of the disorder, and no other neurologic or auditory signs. Many families have multiple affected individuals, suggesting familial transmission of the disorder with moderate to high penetrance (summary by Lee et al., 2006).|OMIM|N|
C0155503|An illusion of movement, either of the external world revolving around the individual or of the individual revolving in space. Vertigo may be associated with disorders of the inner ear (ear, inner); vestibular nerve; brainstem; or cerebral cortex. Lesions in the temporal lobe and parietal lobe may be associated with focal seizures that may feature vertigo as an ictal manifestation. (From Adams et al., Principles of Neurology, 6th ed, pp300-1)|MONDO|N|
C0155504|A labyrinthitits in which bacterial toxins invade the inner ear. It is the most common complication of acute or chronic middle ear infections.|MONDO|N|
C0155505|A labyrinthitis which is an infectious inflammatory disease of a circumscribed area of either the vestibular or the cochlear portion of the labyrinth, or of both together. This is caused by a chronic suppurative otitis media, mastoiditis, or cholesteatoma.|MONDO|N|
C0155506|A labyrinthitis which is a bacterial infectious disease of the inner ear, often causing deafness and loss of vestibular function. This is caused when bacteria spread to the inner ear during the course of severe acute otitis media, purulent meningitis, or an enlarging cholesteatoma.|MONDO|N|
C0155507|A labyrinthitis induced by alcohol, drug ingestion, or occasionally, inhaled substances that are toxic to the inner ear. Drugs like aminoglycosides, furosemide, ethacrynic acid, acetylsalicyclic acid, amiodarone, quinine, cisplatinum, barbiturates, quinine, anti-Alzheimer's medications, anticonvulsants, antidepressants, and anxiolytics can be ototoxic.|MONDO|N|
C0155508|An labyrinthitis caused by infection with Viruses.|MONDO|N|
C0155536|Altered sense of hearing, other than simple decreased hearing or deafness|SNOMEDCT_US|N|
C0155540|Discharge or drainage of fluid from the ear.|NCI|N|
C0155552|A type of hearing loss resulting from a combination of conductive hearing impairment and sensorineural hearing impairment.|HPO|N|
C0155555|Inflammation of the pericardium in acute rheumatic heart disease.|NCI|N|
C0155556|Inflammation of the endocardium in acute rheumatic heart disease.|NCI|N|
C0155557|Inflammation of the myocardium in acute rheumatic heart disease.|NCI|N|
C0155561|Chronic form of rheumatic pericarditis.|MONDO|N|
C0155579|A rheumatologic disorder that involves the pulmonary valve.|MONDO|N|
C0155583|A condition of mild to moderate high blood pressure that has no identifiable cause.|NCI|N|
C0155616|High blood pressure caused by an underlying medical condition.|NCI|N|
C0155620|Mild to moderate high blood pressure that is caused by an underlying medical condition.|NCI|N|
C0155624|High blood pressure caused by renal artery stenosis.|NCI|N|
C0155626|Necrosis of the myocardium, as a result of interruption of the blood supply to the area. It is characterized by a severe and rapid onset of symptoms that may include chest pain, often radiating to the left arm and left side of the neck, dyspnea, sweating, and palpitations.|NCI|N|
C0155627|Acute form of anterolateral myocardial infarction.|MONDO|N|
C0155668|Documented history of previous myocardial infarction (MI), typically with objective evidence via positive biomarkers of myocardial necrosis.|NCI|N|
C0155671|A form of acute right heart failure produced by a sudden increase in resistance to blood flow in the pulmonary circulation.|MONDO|N|
C0155675|A rare vascular anomaly with a direct communication between pulmonary artery and pulmonary vein without an intervening capillary bed.|HPO|N|
C0155676|An aneurysm (severe localized balloon-like outward bulging) in the pulmonary artery.|HPO|N|
C0155679|Acute inflammation of the pericardium.|NCI|N|
C0155686|The sudden onset of inflammation of heart muscle with myocellular necrosis; this is generally secondary to an infectious cause, and patients often have a recent history of a flu-like illness.|NCI|N|
C0155700|A type of second degree atrioventricular (AV) block characterized by sudden failure to conduct an impulse through the AV node without a preceding change in the PR interval.|HPO|N|
C0155707|Abnormal conduction in all three divisions of the intraventricular conducting tissue.|HPO|N|
C0155733|The presence of atheromas or atherosclerotic plaques in the aorta.|HPO|N|
C0155734|An atherosclerotic lesion located in the renal artery.|HPO|N|
C0155742|Increase in diameter of a segment of the renal artery that can be defined as a focal, isolated dilatation of all three layers of the arterial wall over 1.5 times the diameter of the disease-free proximal adjacent arterial segment.|HPO|N|
C0155746|A subclavian aneurysm is weakness or bulging in the wall of the subclavian artery, which is located below the collarbone. If the aneurysm ruptures, it can cause life-threatening, uncontrolled bleeding. Blood clots caused by the aneurysm can potentially lead to stroke or loss of fingers, the hand or, in rare cases, the entire arm.|MONDO|N|
C0155760|Sudden breakage of an artery leading to leakage of blood from the circulation.|HPO|N|
C0155765|A disease involving a capillary.|MONDO|N|
C0155773|Thrombosis of the portal vein and/or its tributaries, which include the splenic vein and the superior and inferior mesenteric veins.|HPO|N|
C0155778|An abnormally dilated superficial vein in the legs.|NCI|N|
C0155789|Bleeding from esophageal varices.|NCI|N|
C0155795|A varicose disease that involves the pelvic region of trunk.|MONDO|N|
C0155796|Varicosity of veins in the vulval region.|HPO|N|
C0155804|Acute form of maxillary sinusitis.|MONDO|N|
C0155805|Acute form of frontal sinusitis.|MONDO|N|
C0155806|Acute form of ethmoid sinusitis.|MONDO|N|
C0155807|Acute form of sphenoid sinusitis.|MONDO|N|
C0155814|Acute form of epiglottitis.|MONDO|N|
C0155817|An upper respiratory tract disease which involves inflammation of both larynx and pharynx.|MONDO|N|
C0155822|Recurrent nasal polyps with subsequent destruction of the nasal pyramid.|NCI|N|
C0155836|Persistent laryngitis usually caused by smoking, heavy alcohol consumption, voice abuse, or gastroesophageal reflux disease. It results in hoarseness and other voice changes.|NCI|N|
C0155842|An abscess that develops in the soft tissues of the lateral pharyngeal space.|NCI|N|
C0155843|An abscess that develops in the soft tissues behind the posterior pharyngeal wall.|NCI|N|
C0155862|Pneumonia that is attributed to the bacteria Streptococcus pneumonia.|NCI|N|
C0155866|Inhalational anthrax is a rare acute systemic infection caused by the inhalation of <i>Bacillus anthracis</i> spores (e.g. through infected animal products, bioterrorism) and characterized by an initial stage where patients present with non specific symptoms (fever, cough, chills, fatigue) that is followed by an acute phase during which hemorrhagic mediastinitis occurs that can progress into meningitis, gastrointestinal involvement, and refractory shock, that can be fatal, if left untreated.|ORDO|N|
C0155877|A asthma with a basis in a pathological type I hypersensitivity reaction.|MONDO|N|
C0155880|An asthma that is triggered by factors not related to allergies such as anxiety, stress, exercise, cold air, dry air, hyperventilation, smoke, viruses, chemical irritants, autonomic imbalance, hormonal deficiencies and psychogenic influences. It is characterized by airway obstruction and inflammation that is at least partially reversible with medication. The symptoms include coughing, wheezing, shortness of breath or rapid breathing, and chest tightness.|MONDO|N|
C0155883|Chronic airway obstruction caused by asthma.|NCI|N|
C0155888|An extrinsic allergic alveolitis caused by infection with Aspergillus.|MONDO|N|
C0155889|An extrinsic allergic alveolitis involving inflammation of the alveoli within the lung caused by hypersensitivity to the inhalation of organic dust particles derived from either the mushrooms, their spores or the compost in which the mushrooms are grown. It is usually caused by the spores of thermophilic actinomycetes.|MONDO|N|
C0155891|An extrinsic allergic alveolitis caused by inhalation of antigens from thermophilic actinomycetes species growing in air conditioners and humidifiers. Fungi like Aureobasidium sp and Candida albicans that survive in the contaminated water in humidifiers and air conditioners are also known to cause the disease.|MONDO|N|
C0155912|Pulmonary alveolar microlithiasis (PULAM) is a rare disease characterized by the deposition of calcium phosphate microliths throughout the lungs. Most patients are asymptomatic for several years or even for decades, and, generally, the diagnosis is incidental to clinical investigations unrelated to the specific disorder. Cases with early onset or rapid progression are rare. A 'sandstorm-appearing' chest roentgenogram is a typical diagnostic finding. The onset of this potentially lethal disease varies from the neonatal period to old age, and the disease follows a long-term progressive course, resulting in a slow deterioration of lung functions. About one-third of the reported cases are said to be familial (summary by Corut et al., 2006).|OMIM|N|
C0155919|Rapid or severe onset or rapid progression of pulmonary edema causing significant hypoxemia or the need for supplemental oxygen.|NCI|N|
C0155927|A higher than expected amount of attrition of teeth, as menifested by loss of tooth characteristics including rounding or sharpening of incisal edges, loss of cusps, and fracturing of teeth, to an extent that is deemed more than would be expected at a given age.|HPO|N|
C0155930|Secondary retention is the cessation of eruption of a tooth after emergence that does not result from a physical barrier in the path of eruption or an abnormal position of the tooth. Permanent molars are less frequently affected than deciduous molars. The major characteristic of a secondarily retained molar is infraocclusion, which may result in malocclusion because of tilting of the neighboring teeth and overeruption of antagonists. The disorder can also result in loss of the retained molar and neighboring teeth due to caries and periodontal disease and in deformation of the facial skeleton (Raghoebar et al., 1992).
See also 125350 and 273050 for phenotypes with shared features of secondary retention of permanent molars.|OMIM|N|
C0155964|Glossy appearance of the entire tongue surface.|HPO|N|
C0156076|Inflammation of the stomach resulting from alcohol ingestion.|NCI|N|
C0156119|A protrusion of necrotic tissue through the abdominal wall under the skin near the umbilicus.|NCI|N|
C0156146|Crohn''s disease affecting the small intestine.|NCI|N|
C0156147|Inflammation of the colon that is characterized by the presence of granulomas.|NCI|N|
C0156183|Narrowing of the anorectum associated with inflammation or scar tissue.|HPO|N|
C0156214|Blockage of the normal flow of the contents of the gallbladder.|NCI|N|
C0156215|Rupture of the wall of the gallbladder.|HPO|N|
C0156216|An abnormal communication between the gallbladder and another organ or cavity.|NCI|N|
C0156218|A rupture in the wall of the extrahepatic or intrahepatic bile duct due to traumatic or pathologic processes.|NCI|N|
C0156221|An acute inflammation of the glomeruli, generally secondary to infection or injury.|NCI|N|
C0156227|A renal functional disorder characterized by proteinuria, edema, hyperlipidemia and hypoalbuminemia. It results from damage to the renal vascular filtration apparatus. It is further characterized by an inflammatory reaction of the glomerular capillaries due to the proliferation of mesangial cells and expansion of the mesangial matrix. Sequelae may include hypertension, atherosclerosis, infection, hypercoagulablity and renal failure.|NCI|N|
C0156228|A renal functional disorder characterized by proteinuria, edema, hyperlipidemia and hypoalbuminemia. It results from damage to the renal vascular filtration apparatus. It is further characterized by an inflammatory reaction in the glomerular capillaries due to the deposition of immune complexes and subsequent thickening of the glomerular basement membrane. Sequelae may include hypertension, atherosclerosis, infection, hypercoagulablity and renal failure.|NCI|N|
C0156229|A renal functional disorder characterized by proteinuria, edema, hyperlipidemia and hypoalbuminemia. It results from damage to the renal vascular filtration apparatus. It is further characterized by an inflammatory reaction of the glomerular capillaries due to the proliferation of mesangial cells, expansion of the mesangial matrix and deposition of immune complexes causing subsequent thickening of the glomerular basement membrane. Sequelae may include hypertension, atherosclerosis, infection, hypercoagulablity and renal failure.|NCI|N|
C0156231|A slowly progressive inflammation of the glomeruli occurring status post infection with streptococcus.|NCI|N|
C0156253|An abscess that is located both in the kidney and across the renal capsule into the perinephric space.|NCI|N|
C0156259|Global enlargement of the renal parenchyma in one or both kidneys.|NCI|N|
C0156264|A urolithiasis that involves the lower urinary tract.|MONDO|N|
C0156270|Inflammation of the bladder due to irradiation.|NCI|N|
C0156272|An abnormal communication between the urinary bladder and the intestine.|NCI|N|
C0156273|Diverticulum (sac or pouch) in the wall of the urinary bladder.|HPO|N|
C0156275|Rupture in the bladder wall due to a pathologic process, in the absence of trauma.|NCI|N|
C0156287|Prolapse of the urethral mucosa from the exterior urethral opening.|NCI|N|
C0156307|A non-neoplastic or neoplastic disorder that affects the blood vessels of the penis. Representative examples include atherosclerosis, venous leak, and hemangioma.|NCI|N|
C0156312|Wasting (atrophy) of the testicle (the male gonad) manifested by a decrease in size and potentially by a loss of fertility.|HPO|N|
C0156318|Breast fibrocystic change characterized by the prominence of fibrotic changes in the parenchyma.|NCI|N|
C0156321|Localized necrosis of the adipose tissue in the breast. Clinically, it may present as a mass. Causes include injury, surgical procedures, and radiation treatment.|NCI|N|
C0156327|Acute form of salpingo-oophoritis.|MONDO|N|
C0156328|Chronic form of salpingo-oophoritis.|MONDO|N|
C0156344|A non-neoplastic disorder characterized by the growth of endometrial tissue in the ovaries. It results in the development of blood filled ovarian cysts (chocolate cysts), and creation of scars and adhesions.|NCI|N|
C0156346|Endometriosis that affects the vagina. It is characterized by the presence of endometrial stroma with or without endometrial-type glands in the vagina.|MONDO|N|
C0156347|Endometriosis that affects the intesines.|MONDO|N|
C0156369|A benign protruding lesion arising either from the endometrial cavity (endometrial polyp) or the endocervix (endocervical polyp). It may occasionally recur following complete resection.|NCI|N|
C0156372|Adhesions or scar tissue that form inside the cavity of the uterus.|HPO|N|
C0156373|Orientation of the uterus in an unusual anatomic location or position.|NCI|N|
C0156385|Leukoplakia of the vagina.|NCI|N|
C0156390|A benign polypoid lesion arising from the vaginal wall.|NCI|N|
C0156394|Hypertrophy of the clitoris.|HPO|N|
C0156403|Excessive bleeding associated with pubertal onset of menstrual periods.|SNOMEDCT_US|N|
C0156404|Abnormally high variation in the amount of time between periods.|HPO|N|
C0156406|Non-menstrual bleeding that occurs during or after sexual intercourse.|NCI|N|
C0156409|Inflammation of the vagina due to thinning of the vaginal wall and decreased lubrication associated with reduced estrogen levels at menopause.|MONDO|N|
C0156543|The unintentional or intentional loss of a pregnancy before 22 weeks gestation.|NCI|N|
C0156689|High blood pressure in the period of time preceding labor and delivery.|NCI|N|
C0156690|High blood pressure in the period of time immediately after labor and delivery.|NCI|N|
C0157259|More than or equal to 6 cm dilation with membrane rupture and one of the following: 4 hours or more of adequate contractions (e.g. more than 200 Montevideo units), 6 hours or more of inadequate contractions and no cervical change.|NCI|N|
C0157266|At least 2 hours of pushing in multiparous women and at least 3 hours of pushing in nulliparous women. Longer durations may be appropriate on an individualized basis (e.g., with the use of epidural analgesia or with fetal malposition) as long as progress is being documented.|NCI|N|
C0157461|Renal failure that occurs postpartum due to any partum problem (hemorrhage, sepsis, preeclampsia).|NCI|N|
C0157705|Acute inflammation of the lymph nodes.|NCI|N|
C0157718|Dermatitis caused by an allergic reaction to an unspecified ingested substance.|NCI|N|
C0157733|An abnormality of the hair.|HPO|N|
C0157743|Autosomal dominant vibratory urticaria is characterized by localized hives and systemic manifestations in response to dermal vibration, with coincident degranulation of mast cells and increased histamine levels in serum (Boyden et al., 2016).|OMIM|N|
C0157749|A disorder of joint(s) caused by the presence of an infectious agent in the joint(s).|SNOMEDCT_US|N|
C0157770|Arthropathy resulting from Behcet''s syndrome.|NCI|N|
C0157917|Juvenile rheumatoid arthritis affecting four or fewer joints, usually asymmetrically. The most commonly affected joints are the knee, elbow, wrist, and ankle.|NCI|N|
C0157987|Arthritis occurring after the ingestion of allergenic substance(s).|NCI|N|
C0157997|Arthritis that occurs during menopause.|NCI|N|
C0158073|A disease involving the articular cartilage of joint.|MONDO|N|
C0158090|Dislocation of joint caused by presence of another disease|SNOMEDCT_US|N|
C0158100|Dislocation of a given joint repeated times.|HPO|N|
C0158113|Contractures of one ore more joints of the hands meaning chronic loss of joint motion due to structural changes in non-bony tissue.|HPO|N|
C0158140|A general term used to refer to any damage to or abnormality of the joint structure or surrounding soft tissue resulting in a limitation of joint movement.|SNOMEDCT_US|N|
C0158252|Lumbar disc disease is caused by degeneration of intervertebral discs of the lumbar spine. One of the most common musculoskeletal disorders, it has strong genetic determinants (Matsui et al., 1998; Battie et al., 1995; Sambrook et al., 1999).|OMIM|N|
C0158266|The presence of degenerative changes of intervertebral disk.|HPO|N|
C0158288|An abnormal narrowing of the lumbar spinal canal.|HPO|N|
C0158317|A tendinitis that involves the patella.|MONDO|N|
C0158321|A tendinitis that involves the tibialis.|MONDO|N|
C0158322|A bony outgrowth on the lower surface of the calcaneus. Though often presenting along with plantar fasciitis (fasciitis, plantar), they are not considered causally related.|MONDO|N|
C0158328|Inflammation of the flexor digitorum tendon, often associated with the Kanavel signs|HPO|N|
C0158329|Narrowing or stenosis of a tendon''s retinacular sheath. It occurs most often in the hand or wrist but can also be found in the foot or ankle. The most common types are DE QUERVAIN DISEASE and TRIGGER FINGER DISORDER.|MSH|N|
C0158353|An infectious process affecting the skeletal muscles. It can be caused by viruses (including HIV), bacteria, fungi, and parasites. Symptoms include muscle weakness and muscle pain.|NCI|N|
C0158360|A rare, benign, superficial fibromatosis disease characterized by single or multiple, uni- or bilateral, fixed, slow-growing, round, firm nodules typically located on the medial portion of the plantar aponeurosis, with no calcification. Patients are often asymptomatic or may present with foot pain, difficulty to walk or stand and, rarely, toe contractures. Histopathology reveals dense fibrocellular tissue with parallel and nodular arrays of fibrocytes and fibrillar collagen with a distinctive cork-screw morphology and no atypia.|ORDO|N|
C0158362|A form of myositis that is characterized by the formation of connective tissue within the muscle.|NCI|N|
C0158364|Abnormal separation of muscles.|MSH|N|
C0158444|A rare bone disease characterized by avascular necrosis of the navicular bone in children. Patients present with sudden unexplained foot pain, inability to bear weight, and limping. Radiographic features include flattening, fragmentation, and patchy sclerosis of the navicular bone. Soft tissue swelling may be associated. The condition is most commonly unilateral and self-limiting. Boys are more often affected than girls.|ORDO|N|
C0158449|Aseptic necrosis involving the head of the humerus.|NCI|N|
C0158454|Union of the fragments of a fractured bone in a faulty or abnormal position. If two bones parallel to one another unite by osseous tissue, the result is a crossunion. (From Manual of Orthopaedic Terminology, 4th ed)|MSH|N|
C0158465|Abnormal positioning in which the elbows are turned out.|HPO|N|
C0158466|A deformity of the elbow in which there is a deviation of the forearm toward the midline of the body.|HPO|N|
C0158473|Mallet finger refers to a condition in which the end joint of a finger bends but will not straighten by itself. In this situation, the joint can be pushed straight but will not hold that position on its own.|HPO|N|
C0158543|A rare structural developmental eye defect characterized by a persistent cyst replacing the eye due to partial or complete failure of the invagination of the optic vesicle during the fetal period. If the failure of invagination is only partial, dysplastic ocular structures may be present. The wall of the cyst is composed of connective tissue lined by neuroglial material. The defect is usually unilateral and may be an isolated finding or occur in association with intra- or extraocular malformations.|ORDO|N|
C0158570|A non-neoplastic disorder that is the result of defects of vascular morphogenesis.|MONDO|N|
C0158587|Isolated congenital auditory ossicle malformation is a rare, congenital, middle ear anomaly characterized by, usually unilateral and sporadic, variations in the number, size and/or configuration of the ossicles, with no tympanic membrane and external ear abnormalities and no history of trauma or infection. Patients frequently present late, after schooling has started, with non-progressive, conductive hearing loss often associated with speech delay and poor school performance.|ORDO|N|
C0158599|Preauricular sinus is an occasional finding and most frequently appears as a small pit close to the anterior margin of the ascending portion of the helix. The opening has also been reported along the postero superior margin of the helix, the tragus or the lobule. Preauricular sinus may lead to the formation of a subcutaneous cyst that is intimately related to the tragal cartilage and the anterior crus of the helix.|HPO|N|
C0158617|Dysfunction of the aortic valve characterized by incomplete valve closure that is present at birth.|NCI|N|
C0158618|Mitral stenosis with congenital onset.|HPO|N|
C0158619|Dysfunction of the mitral valve characterized by incomplete valve closure.|MONDO|N|
C0158634|A form of anomalous pulmonary venous return in which not all pulmonary veins drain abnormally. Partial anomalous pulmonary venous return frequently involves one or both of the veins from one lung.|HPO|N|
C0158644|A malformation in the lung that is present at birth. Representative examples include pulmonary hypoplasia, pulmonary agenesis, congenital lobar emphysema, and alveolar capillary dysplasia.|NCI|N|
C0158646|Cleft lip and palate is a fissure type embryopathy extending across the upper lip, nasal base, alveolar ridge and the hard and soft palate.|ORDO|N|
C0158651|Unilateral cleft lip cleft that starts from the bottom of the upper lip and reaches the nasal cavity.|HPO|N|
C0158652|Unilateral cleft lip cleft that starts from the bottom of the upper lip but does not reach the nasal cavity.|HPO|N|
C0158653|Bilateral cleft lip in which the cleft lip on both sides is complete, i.e. start from the bottom of the upper lip and reach the nasal cavity.|HPO|N|
C0158654|Bilateral cleft lip in which the cleft lip on both sides are incomplete (i.e. start from the bottom of the upper lip but do not reach the nasal cavity), or the cleft lip on one is incomplete and a microform on the other side.|HPO|N|
C0158663|Absence of the tongue owing to a developmental abnormality.|HPO|N|
C0158667|Aplasia of lacrimal and salivary glands (ALSG) is a rare autosomal dominant condition characterized by irritable eyes, epiphora (constant tearing), and xerostomia (dryness of the mouth), which increases risk of dental erosion, dental caries, periodontal disease, and oral infections. ALSG has variable expressivity, and affected individuals may have aplasia or hypoplasia of the lacrimal, parotid, submandibular, and sublingual glands and absence of the lacrimal puncta. In affected individuals, the misdiagnosis is often made of the more prevalent disorder Sjogren syndrome (270150), an autoimmune condition characterized by keratoconjunctivitis sicca and xerostomia. Both sporadic and familial cases of ALSG have been described (summary by Entesarian et al., 2005).|OMIM|N|
C0158683|Isolated polycystic liver disease (PCLD) is a genetic disorder characterized by the appearance of numerous cysts spread throughout the liver and that in most cases is described as autosomal dominant polycystic liver disease (ADPCLD).|ORDO|N|
C0158698|An abnormality of the kidney, ureter, bladder, or urethra that is present at birth. Representative examples include renal hypoplasia, renal agenesis, accessory kidney, absence of ureter, atresia of bladder neck, and atresia of urethra.|NCI|N|
C0158731|A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum.|HPO|N|
C0158733|A kind of polydactyly characterized by the presence of a supernumerary finger or fingers.|HPO|N|
C0158734|A kind of polydactyly characterized by the presence of a supernumerary toe or toes.|HPO|N|
C0158736|Webbing or fusion of the fingers, involving soft parts and including fusion of individual finger bones. Bony fusions are referred to as "bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers in a proximo-distal axis are referred to as "Symphalangism".|HPO|N|
C0158738|Webbing or fusion of the toes, involving soft parts and including fusion of individual bones of the toes. Bony fusions are referred to as "bony" Syndactyly if the fusion occurs in a tibial-fibular axis. Fusions of bones of the toes in a proximo-distal axis are referred to as "Symphalangism".|HPO|N|
C0158761|An abnormal osseous union (fusion) between the radius and the ulna.|HPO|N|
C0158763|A type of Macrodactyly affecting one or several fingers.|HPO|N|
C0158768|A type of Macrodactyly affecting one or several toes.|HPO|N|
C0158776|A developmental defect characterized by agenesis of one or more vertebral bodies.|HPO|N|
C0158779|Presence of rib formation in the cervical region.|NCI|N|
C0158915|A newborn infant who has a weight at birth greater than 4500 grams.|NCI|N|
C0158940|A respiratory disorder characterized by higher than normal respiratory rates among premature and cesarean section delivered neonates whose lungs have not fully matured. The cause is often excess fluid in the lungs, and resolution is aided by supplemental oxygen and sometimes, antibiotics.|NCI|N|
C0158945|An infection with the Cytomegalovirus that is present from birth.|NCI|N|
C0158947|An infection of the umbilicus and/or surrounding tissues occurring in the neonatal period.|HPO|N|
C0158951|Loss of blood from the fetal circulation.|NCI|N|
C0158976|Jaundice in perinates due to cellular damange of liver.|MONDO|N|
C0158981|Neonatal diabetes mellitus presents as hyperglycemia, failure to thrive and, in some cases, dehydration and ketoacidosis which may be severe with coma, in a child within the first months of life.|ORDO|N|
C0158982|A disorder of neuromuscular transmission that occurs in a minority of newborns born to women with myasthenia gravis. Clinical features are usually present at birth or develop in the first 3 days of life and consist of hypotonia and impaired respiratory, suck, and swallowing abilities. This condition is associated with the passive transfer of acetylcholine receptor antibodies through the placenta. In the majority of infants the myasthenic weakness resolves (i.e., transient neonatal myasthenia gravis) although this disorder may rarely continue beyond the neonatal period (i.e., persistent neonatal myasthenia gravis). (From Menkes, Textbook of Child Neurology, 5th ed, p823; Neurology 1997 Jan;48(1):50-4)|MONDO|N|
C0158983|A hypermetabolic syndrome characterized by tachycardia, palpitations, tremor, weight loss, and moist skin that is caused by the elevation of thyroid hormone levels in the serum of the newborn infant or thyroid-axis receptor activation, most commonly due to transplacental passage of thyroid stimulating globulins.|NCI|N|
C0158986|Blood glucose concentration below the lower limit of established reference ranges in a newborn.|NCI|N|
C0158992|A clotting condition characterized as a disruption in the homeostatic balance of the coagulation and fibrinolytic systems presenting as a pathological activation of coagulation mechanisms leading to the formation of small clots inside the blood vessels throughout the body of the newborn.|NCI|N|
C0158995|Anemia, the cause of which is present at birth.|NCI|N|
C0158996|A blood disorder characterized by low hemoglobin levels in premature neonates that usually spontaneously resolves within 3-6 months post birth. A combination of factors including the transition from the liver to the bone marrow for erythropoiesis in a neonate, blood loss experienced during delivery, the shortened life span of fetal blood cells, and an acclimation to a relatively hyperoxic environment outside the womb can predispose a neonate to this condition.|NCI|N|
C0159015|Congenital hydrocele occurs when processus vaginalis is patent and communicates with the peritoneal cavity. This communication allows the movement of peritoneal fluid but is too small to allow the intra-abdominal contents to herniate through.|HPO|N|
C0159020|A seizure occurring within the neonatal period (28 days beyond the full term date).|HPO|N|
C0159054|Abnormal appearance of material expectorated (coughed up) from the respiratory system and that is composed of mucus but may contain other substances such as pus, blood, microorganisms, and fibrin.|HPO|N|
C0159060|An anomaly of the amount or nature of abdominal sounds. Abdominal sounds (bowel sounds) are made by the movement of the intestines as they promote passage of abdominal contents by peristalsis.|HPO|N|
C0159066|Involuntary tightening of the abdominal musculature that occurs in response to touching the abdomen to avoid pain. Rigidity can occur in the presence of abdominal inflammation and usually involves only the inflamed area.|HPO|N|
C0159104|The clinical electro-oculogram (EOG) is an electrophysiological test of function of the outer retina and retinal pigment epithelium (RPE) in which changes in electrical potential across the RPE are recorded during successive periods of dark and light adaptation.|HPO|N|
C0159321|A partial or complete breakage of the facial bone.|HPO|N|
C0159667|A partial or complete breakage of the scapula.|HPO|N|
C0159849|A partial or complete breakage of the patella.|HPO|N|
C0159877|A fracture or multiple fractures of one or more of three bones in the ankle joint|HPO|N|
C0159970|Slippage of the FEMUR off the TIBIA.|MSH|N|
C0160814|Late radiation injury (LRI) is the damage to the soft tissue and bone following radiation therapy that occurs weeks and years after the radiation exposure. Pathogenesis of LRI stems from ischemia, interruption of the blood supply and direct cell damage. LRIs include but not limited to the skin atrophy, ulceration and non-healing wounds; cystitis, proctosigmoiditis, resulting to fistulas, abscesses, fibrosis and scaring; laryngitis, osteoradionecrosis; central nervous system injury, optic neuropathy.|NCI|N|
C0161801|A disease or disorder that is associated with a transplanted lung.|NCI|N|
C0161802|A sequela of bone marrow transplantation.|NCI|N|
C0161803|A disease or disorder that is associated with a transplanted pancreas.|NCI|N|
C0161816|Any heart or vascular disorder occurring as a consequence of injury to the cardiovascular system.|NCI|N|
C0161819|Any disorder of the organs of the digestive system occurring as a consequence of injury to the digestive system.|NCI|N|
C0161820|Any disorder of the organs of the urinary system occurring as a consequence of injury to the urinary system.|NCI|N|
C0161823|A non-neoplastic lesion that occurs in response to injury, including previous surgery.|SNOMEDCT_US|N|
C0161836|A disorder, which is not a natural consequence or progression of any pre-existing disorder, resulting from a diagnostic procedure or any form of therapy that is not an intended or expected outcome.|SNOMEDCT_US|N|
C0162119|A laboratory test result demonstrating decreased levels of hemoglobin in a biological specimen.|NCI|N|
C0162154|Scars that form a depression compared to the level of the surrounding skin because of damage to the collagen, fat or other tissues below the skin.|HPO|N|
C0162164|A rare congenital heart malformation characterized by an obstruction to flow through the pulmonary valve with a clinical presentation that may vary from critical stenosis presenting in the neonatal period to asymptomatic mild stenosis. The obstruction at the valvular level can be associated with obstruction at the subpulmonary, or supravalvar levels (valvar, subpulmonary, supravalvar pulmonary stenosis (PS).|ORDO|N|
C0162275|High levels of ketone bodies (acetoacetic acid, beta-hydroxybutyric acid, and acetone) in the urine. Ketone bodies are insignificant in the blood and urine of normal individuals in the postprandial or overnight-fasted state.|HPO|N|
C0162283|Hereditary nephrogenic diabetes insipidus (NDI) is characterized by inability to concentrate the urine, which results in polyuria (excessive urine production) and polydipsia (excessive thirst). Affected untreated infants usually have poor feeding and failure to thrive, and rapid onset of severe dehydration with illness, hot environment, or the withholding of water. Short stature and secondary dilatation of the ureters and bladder from the high urine volume is common in untreated individuals.|GeneReviews|N|
C0162285|Edema in the region of the eyelids.|HPO|N|
C0162291|A ischemic disease that involves the retina.|MONDO|N|
C0162292|Paralysis of the external ocular muscles.|HPO|N|
C0162297|Cessation of breathing function.|NCI|N|
C0162298|Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time.|HPO|N|
C0162299|Abnormal fluid filled sac within the thyroid gland.|NCI|N|
C0162301|A concretion in the urethra.|NCI|N|
C0162309|X-linked adrenoleukodystrophy (X-ALD) affects the nervous system white matter and the adrenal cortex. Three main phenotypes are seen in affected males: The childhood cerebral form manifests most commonly between ages four and eight years. It initially resembles attention-deficit disorder or hyperactivity; progressive impairment of cognition, behavior, vision, hearing, and motor function follow the initial symptoms and often lead to total disability within six months to two years. Most individuals have impaired adrenocortical function at the time that neurologic disturbances are first noted. Adrenomyeloneuropathy (AMN) manifests most commonly in an individual in his twenties or middle age as progressive stiffness and weakness of the legs, sphincter disturbances, sexual dysfunction, and often, impaired adrenocortical function; all symptoms are progressive over decades. "Addison disease only" presents with primary adrenocortical insufficiency between age two years and adulthood and most commonly by age 7.5 years, without evidence of neurologic abnormality; however, some degree of neurologic disability (most commonly AMN) usually develops by middle age. More than 20% of female carriers develop mild-to-moderate spastic paraparesis in middle age or later. Adrenal function is usually normal.|GeneReviews|N|
C0162316|Anemia caused by low iron intake, inefficient iron absorption in the gastrointestinal tract, or chronic blood loss.|NCI|N|
C0162323|An arthritis affecting five or more separate joints.|NCI|N|
C0162351|A hypersensitivity condition of skin or mucous membranes at the site of direct surface contact with irritants or allergens. A general class that includes both immunologic and non-immunologic conditions.|SNOMEDCT_US|N|
C0162359|Hypohidrotic ectodermal dysplasia (HED) is characterized by hypotrichosis (sparseness of scalp and body hair), hypohidrosis (reduced ability to sweat), and hypodontia (congenital absence of teeth). The cardinal features of classic HED become obvious during childhood. The scalp hair is thin, lightly pigmented, and slow growing. Sweating, although present, is greatly deficient, leading to episodes of hyperthermia until the affected individual or family acquires experience with environmental modifications to control temperature. Only a few abnormally formed teeth erupt, at a later-than-average age. Physical growth and psychomotor development are otherwise within normal limits. Mild HED is characterized by mild manifestations of any or all the characteristic features.|GeneReviews|N|
C0162361|Hidrotic ectodermal dysplasia 2, or Clouston syndrome (referred to as HED2 throughout this GeneReview) is characterized by a triad of major clinical features including partial-to-complete alopecia, nail dystrophy, and palmoplantar hyperkeratosis. Sweating is preserved and there are usually no dental anomalies. Sparse scalp hair and dysplastic nails are seen early in life. In infancy, scalp hair is fine, sparse, and brittle. Progressive hair loss may lead to total alopecia by puberty. The nails may be milky white in early childhood; they gradually become dystrophic, thick, and distally separated from the nail bed. Palmoplantar keratoderma may develop during childhood and increases in severity with age. Associated features may include cutaneous hyperpigmentation (particularly over the joints) and finger clubbing. The clinical manifestations are highly variable even within the same family.|GeneReviews|N|
C0162375|A localized, benign but sometimes aggressive osteolytic lesion of the jaws characterized by osteoclast-type giant cells in a vascular stroma. It more frequently affects the anterior jaws, in particular the mandible. (WHO 2017)|NCI|N|
C0162423|Miliaria rubraor prickly heat occurs deeper in the epidermis (outside layer of skin) and results in very itchy red papules (bumps).|MONDO|N|
C0162429|A deficiency in the intake of energy and nutrients.|HPO|N|
C0162442|A variant of parapsoriasis in which the plaques are large.|NCI|N|
C0162482|A complication of obstetric labor in which the corpus of the uterus is forced completely or partially through the uterine cervix. This can occur during the late stages of labor and is associated with immediate postpartum hemorrhage.|MONDO|N|
C0162494|The co-occurrence of pregnancy and parasitic diseases. The parasitic infection may precede or follow FERTILIZATION.|MSH|N|
C0162504|Painful red or pink edematous nodules most commonly found on the palmar and/or plantar regions.|NCI|N|
C0162510|A rare congenital disorder characterised by multifocal, segmental dilatation of the large intrahepatic bile ducts. It may present at any age and predominantly affects females. Less than 250 cases have been described worldwide. Caroli disease is characterised by bile ductal ectasia without other apparent hepatic abnormalities. It presents with recurrent bacterial cholangitis, biliary stones causing biliary pain or episodes of pancreatitis. The more common variant of this disease, named Caroli syndrome, is characterised by dilatations of the large bile duct associated with congenital hepatic fibrosis. The aetiology of Caroli disease is unknown and its occurrence is sporadic, whereas Caroli syndrome is generally inherited in an autosomal recessive manner.|SNOMEDCT_US|N|
C0162526|Opportunistic infections found in patients who test positive for human immunodeficiency virus (HIV). The most common include PNEUMOCYSTIS PNEUMONIA, Kaposi''s sarcoma, cryptosporidiosis, herpes simplex, toxoplasmosis, cryptococcosis, and infections with Mycobacterium avium complex, Microsporidium, and Cytomegalovirus.|MSH|N|
C0162527|Ankyrin Repeats are tandem modules of about 33 amino acids. The conserved domain structure has been described as side-by-side anti-parallel alpha helices connected by intervening beta hairpin motifs or as beta, alpha, alpha, beta secondary structures or as an L-shaped beta-hairpin and two alpha-helices. The repeats associate to form a higher order structure. Despite sequence variation, the domain core maintains a stable surface of contact residues to mediate protein-protein interactions. Target protein binding involves contacts by the beta hairpin tips and the helical bundle surface facing the Ankyrin groove. ANK repeats have been identified in over 1700 functionally diverse proteins, primarily from eukaryotes; no common theme among the protein targets has been identified. The Ankyrin cytoskeletal protein is composed almost entirely of these repeats.|NCI|N|
C0162529|Inflammation of the colon due to colonic ischemia resulting from alterations in systemic circulation or local vasculature.|MONDO|N|
C0162530|Congenital erythropoietic porphyria (CEP) is characterized in most individuals by severe cutaneous photosensitivity with blistering and increased friability of the skin over light-exposed areas. Onset in most affected individuals occurs at birth or early infancy. The first manifestation is often pink-to-dark red discoloration of the urine. Hemolytic anemia is common and can range from mild to severe, with some affected individuals requiring chronic blood transfusions. Porphyrin deposition may lead to corneal ulcers and scarring, reddish-brown discoloration of the teeth (erythrodontia), and bone loss and/or expansion of the bone marrow. The phenotypic spectrum, however, is broad and ranges from nonimmune hydrops fetalis in utero to late-onset disease with only mild cutaneous manifestations in adulthood.|GeneReviews|N|
C0162531|Hereditary coproporphyria (HCP) is an acute (hepatic) porphyria in which the acute symptoms are neurovisceral and occur in discrete episodes. Attacks typically start in the abdomen with low-grade pain that slowly increases over a period of days (not hours) with nausea progressing to vomiting. In some individuals, the pain is predominantly in the back or extremities. When an acute attack is untreated, a motor neuropathy may develop over a period of days or a few weeks. The neuropathy first appears as weakness proximally in the arms and legs, then progresses distally to involve the hands and feet. Some individuals experience respiratory insufficiency due to loss of innervation of the diaphragm and muscles of respiration. Acute attacks are associated commonly with use of certain medications, caloric deprivation, and changes in female reproductive hormones. About 20% of those with an acute attack also experience photosensitivity associated with bullae and skin fragility.|GeneReviews|N|
C0162532|Variegate porphyria (VP) is both a cutaneous porphyria (with chronic blistering skin lesions) and an acute porphyria (with severe episodic neurovisceral symptoms). The most common manifestation of VP is adult-onset cutaneous blistering lesions (subepidermal vesicles, bullae, and erosions that crust over and heal slowly) of sun-exposed skin, especially the hands and face. Other chronic skin findings include milia, scarring, thickening, and areas of decreased and increased skin pigmentation. Facial hyperpigmentation and hypertrichosis may occur. Cutaneous manifestations may improve in winter and be less prevalent in northern regions and in dark-skinned individuals. Acute neurovisceral symptoms can occur any time after puberty, but less often in the elderly. Acute manifestations are highly variable, but may be similar from episode to episode in a person with recurrent attacks; not all manifestations are present in a single episode; and acute symptoms may become chronic. Symptoms are more common in women than men. The most common manifestations are abdominal pain; constipation; pain in the back, chest, and extremities; anxiety; seizures; and a primarily motor neuropathy resulting in muscle weakness that may progress to quadriparesis and respiratory paralysis. Psychiatric disturbances and autonomic neuropathy can also be observed. Acute attacks may be severe and are potentially fatal.|GeneReviews|N|
C0162533|A rare sub-group of porphyrias characterized by the occurrence of neuro-visceral attacks with or without cutaneous manifestations. Acute hepatic porphyrias encompass four diseases: acute intermittent porphyria (the most common), variagate porphyria, hereditary coproporphyria, and hereditary deficit of delta-aminolevulinic acid dehydratase (extremely rare).|ORDO|N|
C0162534|Prion disease represents a group of conditions that affect the nervous system in humans and animals. In people, these conditions impair brain function, causing changes in memory, personality, and behavior; a decline in intellectual function (dementia); and abnormal movements, particularly difficulty with coordinating movements (ataxia). The signs and symptoms of prion disease typically begin in adulthood and worsen with time, leading to death within a few months to several years.|MedlinePlus Genetics|N|
C0162538|Decreased levels of immunoglobulin A (IgA).|HPO|N|
C0162539|A broad classification of dysgammaglobulinemias characterized by low or undetectable serum levels of immunoglobulin class G (IgG). Deficiencies of IgG present variably according to subclass. IgG deficiencies are typically relative among subclasses and not absolute. Thus even with a given selective IgG subclass deficiency, total IgG levels may still fall within normal range. The clinical course and prognosis is dependent upon the severity of the deficiency and associated morbidity.|NCI|N|
C0162550|An uncomfortable feeling of inner restlessness and inability to stay still. It can be a side effect of psychotropic medications.|MONDO|N|
C0162557|Hepatic failure refers to the inability of the liver to perform its normal synthetic and metabolic functions, which can result in coagulopathy and alteration in the mental status of a previously healthy individual. Hepatic failure is defined as acute if there is onset of encephalopathy within 8 weeks of the onset of symptoms in a patient with a previously healthy liver.|HPO|N|
C0162565|Acute intermittent porphyria (AIP), an autosomal dominant disorder, occurs in heterozygotes for an HMBS pathogenic variant that causes reduced activity of the enzyme porphobilinogen deaminase. AIP is considered "overt" in a heterozygote who was previously or is currently symptomatic; AIP is considered "latent" in a heterozygote who has never had symptoms, and typically has been identified during molecular genetic testing of at-risk family members. Note that GeneReviews does not use the term "carrier" for an individual who is heterozygous for an autosomal dominant pathogenic variant; GeneReviews reserves the term "carrier" for an individual who is heterozygous for an autosomal recessive disorder and thus is not expected to ever develop manifestations of the disorder. Overt AIP is characterized clinically by life-threatening acute neurovisceral attacks of severe abdominal pain without peritoneal signs, often accompanied by nausea, vomiting, tachycardia, and hypertension. Attacks may be complicated by neurologic findings (mental changes, convulsions, and peripheral neuropathy that may progress to respiratory paralysis), and hyponatremia. Acute attacks, which may be provoked by certain drugs, alcoholic beverages, endocrine factors, calorie restriction, stress, and infections, usually resolve within two weeks. Most individuals with AIP have one or a few attacks; about 3%-8% (mainly women) have recurrent attacks (defined as >3 attacks/year) that may persist for years. Other long-term complications are chronic renal failure, hepatocellular carcinoma (HCC), and hypertension. Attacks, which are very rare before puberty, are more common in women than men. Latent AIP. While all individuals heterozygous for an HMBS pathogenic variant that predisposes to AIP are at risk of developing overt AIP, most have latent AIP and never have symptoms.|GeneReviews|N|
C0162566|Porphyria cutanea tarda (PCT) is the most common form of chronic hepatic porphyria (see this term). It is characterized by bullous photodermatitis.|ORDO|N|
C0162568|Erythropoietic protoporphyria-1 is an inborn error of porphyrin metabolism caused by decreased activity of the enzyme ferrochelatase, the terminal enzyme of the heme biosynthetic pathway, which catalyzes the insertion of iron into protoporphyrin to form heme. EPP is characterized clinically by photosensitivity to visible light commencing in childhood, and biochemically by elevated red cell protoporphyrin levels (Todd, 1994).
Genetic Heterogeneity of Erythropoietic Protoporphyria
Also see X-linked erythropoietic protoporphyria (XLEPP; 300752), caused by mutation in the ALAS2 gene (301300) on chromosome Xp11, and EPP2 (618015), caused by mutation in the CLPX gene (615611) on chromosome 15q22.|OMIM|N|
C0162569|Hepatoerythropoietic porphyria (HEP) is characterized by blistering skin lesions, hypertrichosis, and scarring over the affected skin areas. Disease manifestations occur during infancy or childhood and with similar frequency in females and males. Individuals with HEP are not reported to be at increased risk for hepatocellular carcinoma.|GeneReviews|N|
C0162576|A fish-borne zoonosis caused by the ingestion of third stage larvae of nematodes belonging to the genus <i>Anisakis</i>, present in fish or cephalopods. Following its penetration in the human gastrointestinal tract, the parasite can cause gastrointestinal classified as acute (manifesting as abdominal pain, diarrhea, nausea and vomiting), chronic, or ectopic reactions or allergic manifestations (urticaria, angioedema, anaphylactic shock).|ORDO|N|
C0162608|Tumors, cancer or other neoplasms caused by or resulting from trauma or other non-radiation injuries.|MSH|N|
C0162623|Infections with nematodes of the subclass ADENOPHOREA.|MSH|N|
C0162624|Infections with nematodes of the order ENOPLIDA.|MSH|N|
C0162625|Infections with nematodes of the subclass SECERNENTEA.|MSH|N|
C0162626|Infections with nematodes of the order ASCARIDIDA.|MSH|N|
C0162627|A cutaneous disorder attributed to a bacterial infection.|NCI|N|
C0162628|Skin diseases caused by viruses.|MSH|N|
C0162629|Infections with nematodes of the order OXYURIDA.|MSH|N|
C0162631|Infections with nematodes of the order rhabditida.|MONDO|N|
C0162633|The expelling of virus particles from the body. Important routes include the respiratory tract, genital tract (important in INFECTIOUS DISEASE TRANSMISSION, VERTICAL), and intestinal tract.|MSH|N|
C0162635|Angelman syndrome (AS) is characterized by severe developmental delay or intellectual disability, severe speech impairment, gait ataxia and/or tremulousness of the limbs, and unique behavior with an apparent happy demeanor that includes frequent laughing, smiling, and excitability. Microcephaly and seizures are also common. Developmental delays are first noted at around age six months; however, the unique clinical features of AS do not become manifest until after age one year.|GeneReviews|N|
C0162636|Infections with nematodes of the order SPIRURIDA.|MSH|N|
C0162637|Infections with nematodes of the order STRONGYLIDA.|MSH|N|
C0162643|A measure of the quality of health care by assessment of unsuccessful results of management and procedures used in combating disease, in individual cases or series.|MSH|N|
C0162644|Dental decay that occurs on the root portion of a tooth.|SNOMEDCT_US|N|
C0162651|The hindering of output from the STOMACH into the SMALL INTESTINE. This obstruction may be of mechanical or functional origin such as EDEMA from PEPTIC ULCER; NEOPLASMS; FOREIGN BODIES; or AGING.|MSH|N|
C0162666|A heterogenous group of disorders characterized by alterations of mitochondrial metabolism that result in muscle and nervous system dysfunction. These are often multisystemic and vary considerably in age at onset (usually in the first or second decade of life), distribution of affected muscles, severity, and course. (From Adams et al., Principles of Neurology, 6th ed, pp984-5)|MONDO|N|
C0162670|A type of myopathy associated with mitochondrial disease and characterized by findings on biopsy such as ragged red muscle fibers.|HPO|N|
C0162671|MELAS (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes) is a multisystem disorder with protean manifestations. The vast majority of affected individuals develop signs and symptoms of MELAS between ages two and 40 years. Common clinical manifestations include stroke-like episodes, encephalopathy with seizures and/or dementia, muscle weakness and exercise intolerance, normal early psychomotor development, recurrent headaches, recurrent vomiting, hearing impairment, peripheral neuropathy, learning disability, and short stature. During the stroke-like episodes neuroimaging shows increased T2-weighted signal areas that do not correspond to the classic vascular distribution (hence the term "stroke-like"). Lactic acidemia is very common and muscle biopsies typically show ragged red fibers.|GeneReviews|N|
C0162672|MERRF (myoclonic epilepsy with ragged red fibers) is a multisystem disorder characterized by myoclonus (often the first symptom) followed by generalized epilepsy, ataxia, weakness, exercise intolerance, and dementia. Onset can occur from childhood to adulthood, occurring after normal early development. Common findings are ptosis, hearing loss, short stature, optic atrophy, cardiomyopathy, cardiac dysrhythmias such as Wolff-Parkinson-White syndrome, and peripheral neuropathy. Pigmentary retinopathy, optic neuropathy, diabetes mellitus, and lipomatosis have been observed.|GeneReviews|N|
C0162674|Progressive external ophthalmoplegia is a condition characterized by weakness of the eye muscles. The condition typically appears in adults between ages 18 and 40 and slowly worsens over time. The first sign of progressive external ophthalmoplegia is typically drooping eyelids (ptosis), which can affect one or both eyelids. As ptosis worsens, affected individuals may use the forehead muscles to try to lift the eyelids, or they may lift up their chin in order to see. Another characteristic feature of progressive external ophthalmoplegia is weakness or paralysis of the muscles that move the eye (ophthalmoplegia). Affected individuals have to turn their head to see in different directions, especially as the ophthalmoplegia worsens. People with progressive external ophthalmoplegia may also have general weakness of the muscles used for movement (myopathy), particularly those in the neck, arms, or legs. The weakness may be especially noticeable during exercise (exercise intolerance). Muscle weakness may also cause difficulty swallowing (dysphagia).\n\nProgressive external ophthalmoplegia is part of a spectrum of disorders with overlapping signs and symptoms. Similar disorders include ataxia neuropathy spectrum and Kearns-Sayre syndrome. Like progressive external ophthalmoplegia, the other conditions in this spectrum can involve weakness of the eye muscles. However, these conditions have many additional features not shared by most people with progressive external ophthalmoplegia.\n\nWhen the muscle cells of affected individuals are stained and viewed under a microscope, these cells usually appear abnormal. These abnormal muscle cells contain an excess of cell structures called mitochondria and are known as ragged-red fibers.\n\nAlthough muscle weakness is the primary symptom of progressive external ophthalmoplegia, this condition can be accompanied by other signs and symptoms. In these instances, the condition is referred to as progressive external ophthalmoplegia plus (PEO+). Additional signs and symptoms can include hearing loss caused by nerve damage in the inner ear (sensorineural hearing loss), weakness and loss of sensation in the limbs due to nerve damage (neuropathy), impaired muscle coordination (ataxia), a pattern of movement abnormalities known as parkinsonism, and depression.|MedlinePlus Genetics|N|
C0162677|Virus diseases caused by CALICIVIRIDAE. They include HEPATITIS E; VESICULAR EXANTHEMA OF SWINE; acute respiratory infections in felines, rabbit hemorrhagic disease, and some cases of gastroenteritis in humans.|MSH|N|
C0162678|A benign peripheral nerve sheath tumor that generally appears as a soft, skin-colored papule or small subcutaneous nodule. Individuals with neurofibromatosis can have numerous neurofibromas.|HPO|N|
C0162679|A pathologic change in leukemia in which leukemic cells permeate various organs at any stage of the disease. All types of leukemia show various degrees of infiltration, depending upon the type of leukemia. The degree of infiltration may vary from site to site. The liver and spleen are common sites of infiltration, the greatest appearing in myelocytic leukemia, but infiltration is seen also in the granulocytic and lymphocytic types. The kidney is also a common site and of the gastrointestinal system, the stomach and ileum are commonly involved. In lymphocytic leukemia the skin is often infiltrated. The central nervous system too is a common site.|MSH|N|
C0162700|Bacterial, viral, or parasitic diseases transmitted to humans and animals by the bite of infected ticks. The families Ixodidae and Argasidae contain many bloodsucking species that are important pests of man and domestic birds and mammals and probably exceed all other arthropods in the number and variety of disease agents they transmit. Many of the tick-borne diseases are zoonotic.|MONDO|N|
C0162703|The minimum level of stimulation of a body part that a person will perceive as being noxious or unpleasant. (Taber''s)|NCI|N|
C0162735|A small-scale mutation in which a single nucleotide is exchanged for another. Mutagenic chemicals and mistakes in DNA replication may result in point mutations.|NCI|N|
C0162739|A rare hemorrhagic disorder due to an acquired platelet anomaly characterized by hemolysis, elevated liver enzymes and thrombocytopenia that affects pregnant or post-partum women, and is frequently associated with severe preeclampsia. Symptoms are variable, typically including right upper quadrant or epigastric abdominal pain, nausea, vomiting, excessive weight gain, generalized edema, hypertension, general malaise, right shoulder pain, backache, and/or headache. Hepatic hemorrhage and rupture, renal failure, and pulmonary edema can result in maternal and/or fetal death.|ORDO|N|
C0162760|The covalent attachment of a farnesyl group to a protein. [GOC:jl]|GO|N|
C0162761|The covalent attachment of a geranylgeranyl group to a protein. [GOC:jl]|GO|N|
C0162766|A post-translational modification of proteins by the attachment of an isoprenoid to the C-terminal cysteine residue. The isoprenoids used, farnesyl diphosphate or geranylgeranyl diphosphate, are derived from the same biochemical pathway that produces cholesterol.|MSH|N|
C0162770|In this case the right ventricle is more muscular than normal, causing a characteristic boot-shaped (coeur-en-sabot) appearance as seen on anterior- posterior chest x-rays. Right ventricular hypertrophy is commonly associated with any form of right ventricular outflow obstruction or pulmonary hypertension, which may in turn owe its origin to left-sided disease. The echocardiographic signs are thickening of the anterior right ventricular wall and the septum. Cavity size is usually normal, or slightly enlarged. In many cases there is associated volume overload present due to tricuspid regurgitation, in the absence of this, septal motion is normal.|HPO|N|
C0162773|Deletion of sequences of nucleic acids from the genetic material of an individual.|MSH|N|
C0162809|Isolated gonadotropin-releasing hormone (GnRH) deficiency (IGD) is characterized by inappropriately low serum concentrations of the gonadotropins LH (luteinizing hormone) and FSH (follicle-stimulating hormone) in the presence of low circulating concentrations of sex steroids. IGD is associated with a normal sense of smell (normosmic IGD) in approximately 40% of affected individuals and an impaired sense of smell (Kallmann syndrome) in approximately 60%. IGD can first become apparent in infancy, adolescence, or adulthood. Infant boys with congenital IGD often have micropenis and cryptorchidism. Adolescents and adults with IGD have clinical evidence of hypogonadism and incomplete sexual maturation on physical examination. Adult males with IGD tend to have prepubertal testicular volume (i.e., <4 mL), absence of secondary sexual features (e.g., facial and axillary hair growth, deepening of the voice), decreased muscle mass, diminished libido, erectile dysfunction, and infertility. Adult females have little or no breast development and primary amenorrhea. Although skeletal maturation is delayed, the rate of linear growth is usually normal except for the absence of a distinct pubertal growth spurt.|GeneReviews|N|
C0162812|A group of disorders characterized by swelling, basophilia, and distortion of collagen bundles in the dermis.|MSH|N|
C0162817|Any of a variety of eruptive skin disorders characterized by erythema, oozing, vesiculation, and scaling. Etiology is varied.|MSH|N|
C0162818|A group of dermatoses with distinct morphologic features. The primary lesion is most commonly a papule, usually erythematous, with a variable degree of scaling on the surface. Plaques form through the coalescing of primary lesions.|MSH|N|
C0162819|A disorder of the vasculature of the skin.|NCI|N|
C0162820|An inflammatory skin condition caused by an immune response to direct contact between the skin and an allergen. It consists of a delayed type of allergic reaction at the affected site with resulting red, swollen, and blistered skin that may itch or leak.|NCI|N|
C0162823|An inflammatory skin condition caused by direct contact between the skin and an irritating substance. It is typically manifested by erythema, mild edema, and scaling at the affected site.|NCI|N|
C0162824|A delayed hypersensitivity involving the reaction between sunlight or other radiant energy source and a chemical substance to which the individual has been previously exposed and sensitized. It manifests as a papulovesicular, eczematous, or exudative dermatitis occurring chiefly on the light-exposed areas of the skin.|MONDO|N|
C0162830|Dermatitis caused or precipitated by exposure to ultraviolet sunlight, or by mediating phototoxic or photoallergic material in response to ultraviolet sunlight.|NCI|N|
C0162834|A darkening of the skin related to an increase in melanin production and deposition.|HPO|N|
C0162835|A reduction of skin color related to a decrease in melanin production and deposition.|HPO|N|
C0162836|A chronic skin condition involving the inflammation of the apocrine sweat glands, forming pimple-like bumps known as abscesses.|HPO|N|
C0162838|Porokeratosis is a rare skin disorder characterized by one or more annular plaques with a surrounding raised horny border that spreads centrifugally. Variants of porokeratosis have been described that differ in morphologic shapes, distribution, and clinical course (Schamroth et al., 1997). However, as noted by Sybert (2010), families with expression of more than one variant of porokeratosis among members, and individuals expressing more than one variant, have been reported, suggesting that the distinctions among these variants may be artificial.
Porokeratosis palmaris plantaris et disseminata (PPPD) is a subtype in which lesions initially develop on the palms and soles, but later involve other parts of the body, including the trunk and limbs (Wei et al., 2003).
For a discussion of genetic heterogeneity of porokeratosis, see 174800.|OMIM|N|
C0162839|A clonal disorder of keratinization with one or multiple atrophic patches surrounded by a clinically and histologically distinctive hyperkeratotic ridgelike border called the cornoid lamella.|HPO|N|
C0162847|The change in structure whereby a polypeptide assumes its functional shape or conformation. This is a process that occurs during either protein biosynthesis or protein reconstitution. Polypeptide chains assume their correct three-dimensional conformation through discrete intermediate (primary, secondary, and tertiary) structures prior to the development final quaternary structure.|NCI|N|
C0162848|Conditions in which there is histological damage to the lower epidermis along with a grouped chronic inflammatory infiltrate in the papillary dermis disturbing the interface between the epidermis and dermis. LICHEN PLANUS is the prototype of all lichenoid eruptions. (From Rook et al., Textbook of Dermatology, 4th ed, p398)|MSH|N|
C0162849|A chronic inflammatory disease characterized by shiny, flat-topped, usually flesh-colored micropapules no larger than the head of a pin. Lesions are localized in the early stages, found chiefly on the lower abdomen, penis, and inner surface of the thighs. Distribution may become generalized as the disease progresses.|MONDO|N|
C0162852|A rare skin disorder of unknown etiology that is considered to be a more severe form of pityriasis lichenoides. It is characterized by itchy, burning papular lesions which form open sores with red-brown crusts. Low grade fever, headache, malaise, and arthralgias may occasionally precede or accompany the skin findings.|NCI|N|
C0162853|A rare cutaneous disorder of unknown etiology that can present either as an acute condition, with multiple papular lesions which become vesicular and necrotic (pityriasis lichenoides et varioliformis acuta) or chronic, with small, scaling papules (pityriasis lichenoides chronica).|NCI|N|
C0162855|The mucinoses are a diverse group of disorders which have in common the deposition of basophilic, finely granular and stringy material (mucin) in the connective tissues of the dermis (dermal mucinoses), in the pilosebaceous follicles (follicular mucinoses), or in the epidermis and tumors derived therefrom (epithelial mucinoses).|MONDO|N|
C0162869|An aneurysm that has burst, resulting in hemorrhage into adjacent tissues.|NCI|N|
C0162870|Abnormal outpouching or sac-like dilatation in the iliac artery.|HPO|N|
C0162871|An abnormal localized widening (dilatation) of the abdominal aorta.|HPO|N|
C0162872|An abnormal localized widening (dilatation) of the thoracic aorta.|HPO|N|
C0175166|A collective term for diseases of the skin and its appendages and of connective tissue.|MSH|N|
C0175167|Visible efflorescent lesions of the skin caused by acne or resembling acne. (Dorland, 28th ed, p18, 575)|MSH|N|
C0175683|An increased concentration of citrulline in the urine.|HPO|N|
C0175691|Dubowitz syndrome (DS) is a rare multiple congenital syndrome characterized primarly by growth retardation, microcephaly, distinctive facial dysmorphism, cutaneous eczema, a mild to severe intellectual deficit and genital abnormalities.|ORDO|N|
C0175692|Johanson-Blizzard syndrome is an autosomal recessive disorder characterized by poor growth, mental retardation, and variable dysmorphic features, including aplasia or hypoplasia of the nasal alae, abnormal hair patterns or scalp defects, and oligodontia. Other features include hypothyroidism, sensorineural hearing loss, imperforate anus, and pancreatic exocrine insufficiency (summary by Al-Dosari et al., 2008).|OMIM|N|
C0175693|Silver-Russell Syndrome (SRS) is typically characterized by asymmetric gestational growth restriction resulting in affected individuals being born small for gestational age, with relative macrocephaly at birth (head circumference =1.5 SD above birth weight and/or length), prominent forehead usually with frontal bossing, and frequently body asymmetry. This is followed by postnatal growth failure, and in some cases progressive limb length discrepancy and feeding difficulties. Additional clinical features include triangular facies, fifth-finger clinodactyly, and micrognathia with narrow chin. Except for the limb length asymmetry, the growth failure is proportionate and head growth normal. The average adult height in untreated individuals is ~3.1±1.4 SD below the mean. The Netchine-Harbison Clinical Scoring System (NH-CSS) is a sensitive diagnostic scoring system. Clinical diagnosis can be established in an individual who meets at least four of the NH-CSS clinical criteria – prominent forehead/frontal bossing and relative macrocephaly at birth plus two additional findings – and in whom other disorders have been ruled out.|GeneReviews|N|
C0175694|Smith-Lemli-Opitz syndrome (SLOS) is a congenital multiple-anomaly / cognitive impairment syndrome caused by an abnormality in cholesterol metabolism resulting from deficiency of the enzyme 7-dehydrocholesterol (7-DHC) reductase. It is characterized by prenatal and postnatal growth restriction, microcephaly, moderate-to-severe intellectual disability, and multiple major and minor malformations. The malformations include distinctive facial features, cleft palate, cardiac defects, underdeveloped external genitalia in males, postaxial polydactyly, and 2-3 syndactyly of the toes. The clinical spectrum is wide; individuals with normal development and only minor malformations have been described.|GeneReviews|N|
C0175695|Sotos syndrome is characterized by a distinctive facial appearance (broad and prominent forehead with a dolichocephalic head shape, sparse frontotemporal hair, downslanting palpebral fissures, malar flushing, long and narrow face, long chin); learning disability (early developmental delay, mild-to-severe intellectual impairment); and overgrowth (height and/or head circumference =2 SD above the mean). These three clinical features are considered the cardinal features of Sotos syndrome. Major features of Sotos syndrome include behavioral problems (most notably autistic spectrum disorder), advanced bone age, cardiac anomalies, cranial MRI/CT abnormalities, joint hyperlaxity with or without pes planus, maternal preeclampsia, neonatal complications, renal anomalies, scoliosis, and seizures.|GeneReviews|N|
C0175697|Van der Woude syndrome (VWS) is a rare congenital genetic dysmorphic syndrome characterized by paramedian lower-lip fistulae, cleft lip with or without cleft palate, or isolated cleft palate.|ORDO|N|
C0175699|Classic Saethre-Chotzen syndrome (SCS) is characterized by coronal synostosis (unilateral or bilateral), facial asymmetry (particularly in individuals with unicoronal synostosis), strabismus, ptosis, and characteristic appearance of the ear (small pinna with a prominent superior and/or inferior crus). Syndactyly of digits two and three of the hand is variably present. Cognitive development is usually normal, although those with a large genomic deletion are at an increased risk for intellectual challenges. Less common manifestations of SCS include other skeletal findings (parietal foramina, vertebral segmentation defects, radioulnar synostosis, maxillary hypoplasia, ocular hypertelorism, hallux valgus, duplicated or curved distal hallux), hypertelorism, palatal anomalies, obstructive sleep apnea, increased intracranial pressure, short stature, and congenital heart malformations.|GeneReviews|N|
C0175700|Multiple synostoses syndrome (MSS) is a rare developmental bone disorder characterized by proximal symphalangism of the fingers and/or toes often associated with fusion of carpal and tarsal, humeroradial, and cervical spine joints.|ORDO|N|
C0175701|Aarskog-Scott syndrome is a genetic disorder that affects the development of many parts of the body, most commonly the head and face, the hands and feet, and the genitals and urinary system (genitourinary tract). This condition mainly affects males, although females may have mild features of the syndrome.\n\nPeople with Aarskog-Scott syndrome often have distinctive facial features, such as widely spaced eyes (hypertelorism), a small nose, a long area between the nose and mouth (philtrum), and a widow's peak hairline. They frequently have mild to moderate short stature during childhood, but their growth usually catches up with that of their peers during puberty. Hand abnormalities are common in this syndrome and include short fingers (brachydactyly), curved pinky fingers (fifth finger clinodactyly), webbing of the skin between some fingers (cutaneous syndactyly), and a single crease across the palm. Affected individuals can also have wide, flat feet with broad, rounded toes. Other abnormalities in people with Aarskog-Scott syndrome include heart defects and a split in the upper lip (cleft lip) with or without an opening in the roof of the mouth (cleft palate).\n\nMost males with Aarskog-Scott syndrome have a shawl scrotum, in which the scrotum surrounds the penis instead of hanging below. Less often, they have undescended testes (cryptorchidism) or a soft out-pouching around the belly-button (umbilical hernia) or in the lower abdomen (inguinal hernia).\n\nThe intellectual development of people with Aarskog-Scott syndrome varies widely. Most individuals with Aarskog-Scott syndrome have normal intelligence; however, some may have mild learning and behavior problems, and in rare cases, severe intellectual disability has been reported.|MedlinePlus Genetics|N|
C0175702|Williams syndrome (WS) is characterized by cardiovascular disease (elastin arteriopathy, peripheral pulmonary stenosis, supravalvar aortic stenosis, hypertension), distinctive facies, connective tissue abnormalities, intellectual disability (usually mild), a specific cognitive profile, unique personality characteristics, growth abnormalities, and endocrine abnormalities (hypercalcemia, hypercalciuria, hypothyroidism, and early puberty). Feeding difficulties often lead to poor weight gain in infancy. Hypotonia and hyperextensible joints can result in delayed attainment of motor milestones.|GeneReviews|N|
C0175703|Thrombocytopenia absent radius (TAR) syndrome is characterized by bilateral absence of the radii with the presence of both thumbs, and thrombocytopenia that is generally transient. Thrombocytopenia may be congenital or may develop within the first few weeks to months of life; in general, thrombocytopenic episodes decrease with age. Cow's milk allergy is common and can be associated with exacerbation of thrombocytopenia. Other anomalies of the skeleton (upper and lower limbs, ribs, and vertebrae), heart, and genitourinary system (renal anomalies and agenesis of uterus, cervix, and upper part of the vagina) can occur.|GeneReviews|N|
C0175704|Noonan syndrome with multiple lentigines (NSML) is a condition in which the cardinal features consist of lentigines, hypertrophic cardiomyopathy, short stature, pectus deformity, and dysmorphic facial features including widely spaced eyes and ptosis. Multiple lentigines present as dispersed flat, black-brown macules, mostly on the face, neck, and upper part of the trunk with sparing of the mucosa. In general, lentigines do not appear until age four to five years but then increase to the thousands by puberty. Some individuals with NSML do not exhibit lentigines. Approximately 85% of affected individuals have heart defects, including hypertrophic cardiomyopathy (typically appearing during infancy and sometimes progressive) and pulmonary valve stenosis. Postnatal growth restriction resulting in short stature occurs in fewer than 50% of affected persons, although most affected individuals have a height that is less than the 25th centile for age. Sensorineural hearing deficits, present in approximately 20% of affected individuals, are poorly characterized. Intellectual disability, typically mild, is observed in approximately 30% of persons with NSML.|GeneReviews|N|
C0175707|Right atrial isomerism (RAI) is a severe complex congenital heart defect resulting from embryonic disruption of proper left-right axis determination. RAI is usually characterized by complete atrioventricular septal defect with a common atrium and univentricular AV connection, total anomalous pulmonary drainage, and transposition or malposition of the great arteries. Affected individuals present at birth with severe cardiac failure. Other associated abnormalities include bilateral trilobed lungs, midline liver, and asplenia, as well as situs inversus affecting other organs. Left atrial isomerism (LAI) is a related disorder with a somewhat better prognosis. LAI is characterized by bilateral superior vena cava, interruption of the intrahepatic portion of the inferior vena cava, partial anomalous pulmonary venous drainage, and ventricular septal defect. Patients with LAI may have polysplenia and bilateral bilobed lungs, as well as situs inversus affecting other organs. Both RAI and LAI malformation complexes have classically been referred to as Ivemark syndrome (summary by Eronen et al., 2004 and Kaasinen et al., 2010).|OMIM|N|
C0175709|Centronuclear myopathy is a condition characterized by muscle weakness (myopathy) and wasting (atrophy) in the skeletal muscles, which are the muscles used for movement. The severity of centronuclear myopathy varies among affected individuals, even among members of the same family.\n\nA key feature of centronuclear myopathy is the displacement of the nucleus in muscle cells, which can be viewed under a microscope. Normally the nucleus is found at the edges of the rod-shaped muscle cells, but in people with centronuclear myopathy the nucleus is located in the center of these cells. How the change in location of the nucleus affects muscle cell function is unknown.\n\nPeople with centronuclear myopathy begin experiencing muscle weakness at any time from birth to early adulthood. The muscle weakness slowly worsens over time and can lead to delayed development of motor skills, such as crawling or walking; muscle pain during exercise; and difficulty walking. Some affected individuals may need wheelchair assistance as the muscles atrophy and weakness becomes more severe. In rare instances, the muscle weakness improves over time.\n\nSome people with centronuclear myopathy experience mild to severe breathing problems related to the weakness of muscles needed for breathing. People with centronuclear myopathy may have droopy eyelids (ptosis) and weakness in other facial muscles, including the muscles that control eye movement. People with this condition may also have foot abnormalities, a high arch in the roof of the mouth (high-arched palate), and abnormal side-to-side curvature of the spine (scoliosis).  Rarely, individuals with centronuclear myopathy have a weakened heart muscle (cardiomyopathy), disturbances in nerve function (neuropathy), or intellectual disability.|MedlinePlus Genetics|N|
C0175713|Aicardi syndrome is a neurodevelopmental disorder that affects primarily females. Initially it was characterized by a typical triad of agenesis of the corpus callosum, central chorioretinal lacunae, and infantile spasms. As more affected individuals have been ascertained, it has become clear that not all affected girls have all three features of the classic triad and that other neurologic and systemic defects are common, including other brain malformations, optic nerve abnormalities, other seizure types, intellectual disability of varying severity, and scoliosis.|GeneReviews|N|
C0175754|The corpus callosum is the largest fiber tract in the central nervous system and the major interhemispheric fiber bundle in the brain. Formation of the corpus callosum begins as early as 6 weeks' gestation, with the first fibers crossing the midline at 11 to 12 weeks' gestation, and completion of the basic shape by age 18 to 20 weeks (Schell-Apacik et al., 2008). Agenesis of the corpus callosum (ACC) is one of the most frequent malformations in brain with a reported incidence ranging between 0.5 and 70 in 10,000 births. ACC is a clinically and genetically heterogeneous condition, which can be observed either as an isolated condition or as a manifestation in the context of a congenital syndrome (see MOLECULAR GENETICS and Dobyns, 1996). Also see mirror movements-1 and/or agenesis of the corpus callosum (MRMV1; 157600).
Schell-Apacik et al. (2008) noted that there is confusion in the literature regarding radiologic terminology concerning partial absence of the corpus callosum, where various designations have been used, including hypogenesis, hypoplasia, partial agenesis, or dysgenesis.|OMIM|N|
C0175755|Congenital failure to develop, and absence of, the nipple.|HPO|N|
C0175756|Blount disease is characterized by disturbed growth of the inner portion of the upper tibial extremity, progressively leading to bowlegged deformity with bone angulation just below the knee (tibia varus). In 60% of cases, the condition affects both legs.|ORDO|N|
C0175778|The FLNB disorders include a spectrum of phenotypes ranging from mild to severe. At the mild end are spondylocarpotarsal synostosis (SCT) syndrome and Larsen syndrome; at the severe end are the phenotypic continuum of atelosteogenesis types I (AOI) and III (AOIII) and Piepkorn osteochondrodysplasia (POCD). SCT syndrome is characterized by postnatal disproportionate short stature, scoliosis and lordosis, clubfeet, hearing loss, dental enamel hypoplasia, carpal and tarsal synostosis, and vertebral fusions. Larsen syndrome is characterized by congenital dislocations of the hip, knee, and elbow; clubfeet (equinovarus or equinovalgus foot deformities); scoliosis and cervical kyphosis, which can be associated with a cervical myelopathy; short, broad, spatulate distal phalanges; distinctive craniofacies (prominent forehead, depressed nasal bridge, malar flattening, and widely spaced eyes); vertebral anomalies; and supernumerary carpal and tarsal bone ossification centers. Individuals with SCT syndrome and Larsen syndrome can have midline cleft palate and hearing loss. AOI and AOIII are characterized by severe short-limbed dwarfism; dislocated hips, knees, and elbows; and clubfeet. AOI is lethal in the perinatal period. In individuals with AOIII, survival beyond the neonatal period is possible with intensive and invasive respiratory support. Piepkorn osteochondrodysplasia (POCD) is a perinatal-lethal micromelic dwarfism characterized by flipper-like limbs (polysyndactyly with complete syndactyly of all fingers and toes, hypoplastic or absent first digits, and duplicated intermediate and distal phalanges), macrobrachycephaly, prominant forehead, hypertelorism, and exophthalmos. Occasional features include cleft palate, omphalocele, and cardiac and genitourinary anomalies. The radiographic features at mid-gestation are characteristic.|GeneReviews|N|
C0175816|Cold autoimmune hemolytic anemia comprises two types of autoimmune hemolytic anemia (AIHA; see this term) defined by the presence of cold autoantibodies (autoantibodies which are active at temperatures below 30°C): cold agglutinin disease (CAD), which is the more common, and paroxysmal cold hemoglobinuria (PCH; see these terms).|ORDO|N|
C0178238|An infectious disease involving a pathogenic inflammatory response in the intestinal mucosa.|MONDO|N|
C0178282|The protrusion of abdominal contents through a congenital or acquired defect in the abdominal wall.|NCI|N|
C0178361|Death of an individual by physical violence from another.|NCI|N|
C0178405|Impaired ability of an infant to suck or coordinate the suck-swallow response resulting in inadequate oral nutrition for metabolic needs.|NANDA-I|N|
C0178415|The amount of prostate specific antigen is increased, based on pre-defined thresholds.|NCI|N|
C0178416|Anemia with varying degrees of erythrocytic hypoplasia without leukopenia or thrombocytopenia.|HPO|N|
C0178417|Inability to experience pleasurable activities usually found enjoyable.|HPO|N|
C0178421|A benign biphasic tumor of the breast with epithelial and stromal components.|HPO|N|
C0178426|A rare, lethal congenital malformation characterized by bilateral renal agenesis and the absence or decreased volume of amniotic fluid (oligohydramnios). The presence of oligohydramnios gives rise to congenital anomalies that include hypoplastic lungs, lower extremities abnormalities, and characteristic facial features (low-set ears, widely separated eyes, nose flattening, and receding chin). Newborn infants usually die of respiratory failure.|NCI|N|
C0178540|localized reduction of blood flow to brain tissue due to arterial obstruction or systemic hypoperfusion; frequently occurs in conjunction with brain hypoxia, which is reduction in brain oxygen supply; severe hypoxia is referred to as anoxia.|CSP|N|
C0178546|A category of psychiatric disorders which includes disorders most commonly identified in infancy, childhood, or adolescence.|NCI|N|
C0178650|heterogeneous group of immunoglobulin disease characterized by the presence in serum or urine of a paraprotein (monoclonal gammopathy) or two distinct paraproteins (biclonal gammopathy).|CSP|N|
C0178664|Accumulation of scar tissue within the glomerulus.|HPO|N|
C0178668|condition in which there is a deviation from or interruption of the normal structure or function of the hair follicle, which is a tube-like invagination of the epidermis from which the hair shaft develops.|CSP|N|
C0178703|two types, primary type is a condition chiefly characterized by thickening of the skin of the head and distal extremities, deep folds and furrows of the skin of the forehead, cheeks, and scalp, seborrhea, hyperhidrosis, periostosis of the long bones, digital clubbing, and spadelike enlargement of the hands and feet, it is more prevalent in the male; secondary type is a condition with symmetrical osteitis of the four limbs, chiefly localized to the phalanges and the terminal epiphyses of the long bones of the forearm and leg, sometimes extending to the proximal ends of the limbs and the flat bones, and accompanied by dorsal kyphosis and joint involvement, and is often secondary to chronic conditions of the lungs and heart.|CSP|N|
C0178782|pain in the oral and/or facial regions; associated conditions include local inflammatory and neoplastic disorders and neuralgic syndromes involving the trigeminal, facial, and glossopharyngeal nerves.|CSP|N|
C0178808|condition of the patient preceding surgery.|CSP|N|
C0178824|excess of blood in a body part following restoration of its temporarily arrested flow.|CSP|N|
C0178829|A non-neoplastic or neoplastic disorder that affects the male or female genital system. Representative examples of non-neoplastic disorders include infection, testicular torsion, endometriosis, and adenomyosis. Representative examples of neoplastic disorders include germ cell tumors, carcinoma, lymphoma, and sarcoma.|NCI|N|
C0178830|A benign or malignant, primary or metastatic neoplasm affecting the male and female reproductive system.|NCI|N|
C0178874|A pathologic process in which alterations at the molecular level result in a more aggressive cytologic and phenotypic profile and clinical course of a neoplasm.|NCI|N|
C0178879|Uropathy that is caused by an impediment to flow in the urinary tract.|NCI|N|
C0184511|Condition changed and/or recovered|CCC|N|
C0184512|Condition will not change and requires no further care to maintain condition.|CCC|N|
C0184517|Change in or modification of energy used by the body|CCC|N|
C0184518|Change in or modification of the muscles, bones or support structures|CCC|N|
C0184522|Cardiovascular Alteration involves a change in the existing function of biologic molecules and complexes, or cellular, cell, or tissue components of the heart and vascular system by which blood is pumped and circulated through the body to provide tissues with oxygen and nutrients and to remove waste products.|NCI|N|
C0184524|Change in or modification of mental processes|CCC|N|
C0184536|Increased chance of fluid retention, overload, or edema|CCC|N|
C0184543|Failure to follow regulated course of treating disease|CCC|N|
C0184547|Change in or modification of the immune system|CCC|N|
C0184548|Change in or modification of food or nutrients|CCC|N|
C0184549|Increased chance of less than adequate intake or absorption of food or nutrients|CCC|N|
C0184551|Change in or modification of the breathing function|CCC|N|
C0184554|Group of symptoms related to effects of immobility|CCC|N|
C0184556|Change in modification of ability to maintain oneself|CCC|N|
C0184557|Change in or modification of more complex activities than those needed to maintain oneself|CCC|N|
C0184558|Change in or modification of the ability to see the significance, purpose, or,value in something|CCC|N|
C0184562|Change in or modification of diminished balance|CCC|N|
C0184564|Change in or modification of diminished ability to feel|CCC|N|
C0184566|A change in the state of physical ease.|PNDS|N|
C0184567|A sensation of discomfort or distress that has a severe or rapid onset.|NCI|N|
C0184570|Change in or modification of neurovascularization of the extremities|CCC|N|
C0184571|Change in or modification of the kidney function|CCC|N|
C0205082|Intensely bad or unpleasant in degree, quality or extent.|NCI|N|
C0205160|An absence finding of the specified component / analyte, organism or clinical sign based on the established threshold of the performed test or procedure.CHAR(13)\[Note: Negative does not necessarily imply the complete absence of the specified item.\]CHAR(13)|HL7V3.0|N|
C0205161|Deviating in any way from the state, position, structure, condition, behavior, or rule which is considered a norm.|NCI|N|
C0205255|The state of being confined to jail or prison.|NCI|N|
C0205329|Applies to a disease manifestation that increases in scope or severity over the course of time, i.e., that worsens with age.|HPO|N|
C0205339|A second infection by the same pathogen that follows a period of recovery.|NCI|N|
C0205400|An increase in the thickness of a structure.|NCI|N|
C0205557|A test result that shows evidence of a result or condition although it is not actually present.|NCI|N|
C0205622|Minimal invasion by malignant cells of the tissues that are immediately adjacent to a carcinoma in situ.|NCI|N|
C0205642|An adenocarcinoma characterized by the presence of large malignant epithelial cells with abundant granular eosinophilic cytoplasm (oncocytes). Representative examples include thyroid gland oncocytic follicular carcinoma, oncocytic breast carcinoma, and salivary gland oncocytic carcinoma.|NCI|N|
C0205643|A carcinoma characterized by the presence of a cribriform architectural pattern. Representative examples include the intraductal cribriform breast carcinoma and invasive cribriform breast carcinoma.|NCI|N|
C0205644|An adenocarcinoma characterized by the presence of malignant epithelial cells with granular cytoplasm.|NCI|N|
C0205645|An infiltrating adenocarcinoma in which the malignant cells form tubular structures. Representative examples include the tubular breast carcinoma and the gastric tubular adenocarcinoma.|NCI|N|
C0205646|A salivary gland benign epithelial neoplasm with a uniform, monomorphic appearance that is dominated by basal cells forming trabecular structures. It is rare and occurs mostly on the parotid gland. The average age of patients has been reported to be 58 years. Swelling is the most constant clinical finding.|NCI|N|
C0205648|A benign epithelial neoplasm characterized by a microcystic pattern. The cystic spaces are lined by small cuboidal cells without evidence of significant cytologic atypia.|NCI|N|
C0205649|A benign epithelial neoplasm arising from the salivary glands. It is characterized by the presence of a monomorphic cellular infiltrate.|NCI|N|
C0205650|An adenoma characterized by the presence of papillary epithelial patterns.|NCI|N|
C0205651|A benign epithelial neoplasm characterized by the presence of a trabecular glandular architectural pattern.|NCI|N|
C0205695|Goblet cell carcinoma (GCC) is an aggressive type of endocrine tumor of the appendix (see this term) presenting equally in males and females in the fifth decade of life and manifesting with a palpable mass and abdominal pain or acute appendicitis. Metastasis to the ovaries, peritoneum or right colon has usually already occurred in half of patients at the time of diagnosis.|ORDO|N|
C0205697|A malignant epithelial neoplasm characterized by the presence of spindle cells and anaplastic morphologic features. Giant cells and a sarcomatous component may also be present.|NCI|N|
C0205698|A usually aggressive malignant epithelial neoplasm composed of atypical cells which do not display evidence of glandular, squamous, or transitional cell differentiation.|NCI|N|
C0205699|Carcinoma that has spread diffusely to an anatomic site or throughout the body.|NCI|N|
C0205700|Hypertrophic cardiomyopathy with an asymmetrical pattern of hypertrophy, with a predilection for the interventricular septum and myocyte disarray.|HPO|N|
C0205710|POLG-related disorders comprise a continuum of overlapping phenotypes that were clinically defined long before their molecular basis was known. Most affected individuals have some, but not all, of the features of a given phenotype; nonetheless, the following nomenclature can assist the clinician in diagnosis and management. Onset of the POLG-related disorders ranges from infancy to late adulthood. Alpers-Huttenlocher syndrome (AHS), one of the most severe phenotypes, is characterized by childhood-onset progressive and ultimately severe encephalopathy with intractable epilepsy and hepatic failure. Childhood myocerebrohepatopathy spectrum (MCHS) presents between the first few months of life and about age three years with developmental delay or dementia, lactic acidosis, and a myopathy with failure to thrive. Other findings can include liver failure, renal tubular acidosis, pancreatitis, cyclic vomiting, and hearing loss. Myoclonic epilepsy myopathy sensory ataxia (MEMSA) now describes the spectrum of disorders with epilepsy, myopathy, and ataxia without ophthalmoplegia. MEMSA now includes the disorders previously described as spinocerebellar ataxia with epilepsy (SCAE). The ataxia neuropathy spectrum (ANS) includes the phenotypes previously referred to as mitochondrial recessive ataxia syndrome (MIRAS) and sensory ataxia neuropathy dysarthria and ophthalmoplegia (SANDO). About 90% of persons in the ANS have ataxia and neuropathy as core features. Approximately two thirds develop seizures and almost one half develop ophthalmoplegia; clinical myopathy is rare. Autosomal recessive progressive external ophthalmoplegia (arPEO) is characterized by progressive weakness of the extraocular eye muscles resulting in ptosis and ophthalmoparesis (or paresis of the extraocular muscles) without associated systemic involvement; however, caution is advised because many individuals with apparently isolated arPEO at the onset develop other manifestations of POLG-related disorders over years or decades. Of note, in the ANS spectrum the neuropathy commonly precedes the onset of PEO by years to decades. Autosomal dominant progressive external ophthalmoplegia (adPEO) typically includes a generalized myopathy and often variable degrees of sensorineural hearing loss, axonal neuropathy, ataxia, depression, parkinsonism, hypogonadism, and cataracts (in what has been called "chronic progressive external ophthalmoplegia plus," or "CPEO+").|GeneReviews|N|
C0205711|PLP1 disorders of central nervous system myelin formation include a range of phenotypes from Pelizaeus-Merzbacher disease (PMD) to spastic paraplegia 2 (SPG2). PMD typically manifests in infancy or early childhood with nystagmus, hypotonia, and cognitive impairment; the findings progress to severe spasticity and ataxia. Life span is shortened. SPG2 manifests as spastic paraparesis with or without CNS involvement and usually normal life span. Intrafamilial variation of phenotypes can be observed, but the signs are usually fairly consistent within families. Heterozygous females may manifest mild-to-moderate signs of the disease.|GeneReviews|N|
C0205713|Roussy-Levy syndrome is an autosomal dominant disorder characterized by early onset of prominent ataxia followed by late onset of mild motor involvement. Symptoms progress very slowly, and affected individuals may remain ambulatory throughout life (Auer-Grumbach et al., 1998; Plante-Bordeneuve et al., 1999).|OMIM|N|
C0205721|An infection acquired in a hospital or other healthcare setting.|NCI|N|
C0205748|A large pigmented lesion measuring 5-15 mm in diameter with irregular, notched, and ill defined border and with color that may range from tan to dark brown to pink.|HPO|N|
C0205766|A soft tissue tumor of uncertain lineage characterized by the presence of neoplastic spindle-shaped to round cells in a fibromyxoid stroma. Metaplastic bone formation may or may not be present.|NCI|N|
C0205768|A demarcated, largely intraventricular tumor in the region of the foramen of Monro composed of spindle to large plump or ganglion-like cells with eosinophilic to amphophilic cytoplasm and somewhat pleomorphic nuclei with occasional prominent nucleoli. These tumors are almost always associated with tuberous sclerosis.|HPO|N|
C0205769|Myxopapillary ependymoma (MEPN) describes a slow growing ependymoma located almost exclusively in the conus medullaris-cauda equina-filum terminale region of the spinal cord, presenting in all age groups, and manifesting with variable symptoms such as neck pain, vomiting and unsteady gait and metastasis. It has a more aggressive disease course and is seen in the pediatric population.|ORDO|N|
C0205770|Choroid plexus tumors are of neuroectodermal origin and range from benign choroid plexus papillomas (CPPs) to malignant choroid carcinomas (CPCs). These rare tumors generally occur in childhood, but have also been reported in adults. Patients typically present with signs and symptoms of increased intracranial pressure including headache, hydrocephalus, papilledema, nausea, vomiting, cranial nerve deficits, gait impairment, and seizures (summary by Safaee et al., 2013).|OMIM|N|
C0205788|A benign neoplasm that includes blood vessel proliferation and a dense eosinophilic inflammatory infiltrate, manifesting as flesh/plum-colored pruritic nodules and papules, most commonly affecting the ear and the periauricular area.|HPO|N|
C0205789|A hemangioma arising from skeletal muscle.|NCI|N|
C0205792|An intestinal HERNIA.|MSH|N|
C0205815|A morphologic variant of leiomyosarcoma characterized by the presence of epithelioid round cells with eosinophilic to clear cytoplasm.|NCI|N|
C0205816|A morphologic variant of leiomyosarcoma characterized by the presence of cellular pleomorphism, malignant cells with large nuclei, and a myxoid stroma.|NCI|N|
C0205822|A rare benign slow growing adipose tissue tumor, characterized by the presence of polygonal brown fat cells with multivacuolated and/or granular cytoplasm. The tumor is usually painless and is most often seen in young adults.|NCI|N|
C0205823|A benign circumscribed tumor characterized by small spindle cells, rounded hyperchromatic cells and multinucleated giant cells with radially arranged nuclei.|NCI|N|
C0205824|Dedifferentiated liposarcoma (DDLS) is a high-grade subtype of liposarcoma (LS; see this term) that progresses from well-differentiated liposarcoma (WDLS; see this term), and most often occurs in the retroperitoneum. It is defined as a region of nonlipogenic sarcoma associated with WDLS. .|ORDO|N|
C0205825|Pleomorphic liposarcoma (PLS), the rarest subtype of liposarcoma (LS; see this term), is an aggressive, fast growing tumor located usually in the deep soft tissues of the lower and upper extremities. It is characterized by a variable number of pleomorphic lipoblasts and, in contrast to dedifferentiated liposarcoma, it lacks any association with well-differentiated liposarcoma (see these terms).|ORDO|N|
C0205828|A rare common cystic lymphatic malformation characterized by a benign cystic lesion composed of dilated lymphatic channels. Macrocystic lesions consist of cysts larger than 1 cm in diameter. They usually present at birth or during the first years of life and most often occur in the head and neck region but may affect any site. Symptoms depend on the location and extent of the lesion. Infection, trauma, or intracystic hemorrhage can lead to lesional expansion. Malignant transformation does not occur.|ORDO|N|
C0205833|A rare malignant embryonal neoplasm arising from the cerebellum. It is characterized by the morphologic features of a medulloblastoma and the presence of a striated muscle component. Its clinical behavior is similar to medulloblastoma.|NCI|N|
C0205834|The occurrence of multiple distinct meningiomas in the same individual.|HPO|N|
C0205851|A benign or malignant, gonadal or extragonadal neoplasm that originates from germ cells. Representative examples include teratoma, seminoma, embryonal carcinoma, and yolk sac tumor.|NCI|N|
C0205854|A tumor that arises from a gland cell.|HPO|N|
C0205865|A rare benign neoplasm arising from tooth-forming tissues. It is characterized by the presence of a fibromyxoid stroma, epithelial component, dentin, and enamel. Recurrences are rare.|NCI|N|
C0205866|A benign, slow growing, and painless hamartomatous tumor occurring in tooth-bearing areas of the jaws. It usually affects children and adolescents. It is characterized by the presence of tooth-like structures. Treatment consists of local excision. Recurrences have not been reported.|NCI|N|
C0205874|A benign epithelial neoplasm characterized by a papillary growth pattern and a proliferation of neoplastic squamous cells without morphologic evidence of malignancy [NCI thesaurus].|HPO|N|
C0205875|Glandular or squamous cell neoplastic proliferations characterized by the formation of multiple papillary structures diffusely involving a specific anatomic site.|NCI|N|
C0205898|Pineoblastoma is a rare primitive neuroectodermal tumor (PNET) arising in the pineal gland. Pineoblastomas are classified as a WHO grade IV tumor and comprise one-fourth to one-half of pineal parenchymal tumors. Pineoblastoma is a highly cellular tumor originating in the pineal gland and containing small, poorly differentiated cells.|HPO|N|
C0205929|An abnormal connection between the epithelialised surface of the anal canal and the perianal skin.|HPO|N|
C0205944|Epithelioid sarcoma is a rare, soft tissue tumor characterized by high incidence of local recurrence, regional lymph node involvement and distant metastases. It commonly affects the soft tissue under the skin of a finger, hand, forearm, lower leg or foot, less often other areas of the body.|ORDO|N|
C0205945|A malignant mesenchymal neoplasm composed of spindle-shaped cells. This is a morphologic term which can be applied to a wide range of sarcomas.|NCI|N|
C0205969|Thymic carcinoma (TC) is a type of thymic epithelial neoplasm (see this term) characterized by a high malignant potential.|ORDO|N|
C0206019|Encephalopathy that is associated with human immunodeficiency virus (HIV) infection.|NCI|N|
C0206042|Genetic prion disease generally manifests with cognitive difficulties, ataxia, and myoclonus (abrupt jerking movements of muscle groups and/or entire limbs). The order of appearance and/or predominance of these features and other associated neurologic and psychiatric findings vary. The three major phenotypes of genetic prion disease are genetic Creutzfeldt-Jakob disease (gCJD), fatal familial insomnia (FFI), and Gerstmann-Sträussler-Scheinker (GSS) syndrome. Although these phenotypes display overlapping clinical and pathologic features, recognition of these phenotypes can be useful when providing affected individuals and their families with information about the expected clinical course. The age at onset typically ranges from 50 to 60 years. The disease course ranges from a few months in gCJD and FFI to a few (up to 4, and in rare cases up to 10) years in GSS syndrome.|GeneReviews|N|
C0206061|Inflammation of interstitial lung tissue, usually associated with infection.|NCI|N|
C0206062|A category of lung diseases characterized by varying degrees of inflammation and fibrosis of the interstitial lung tissue. Causes include occupational lung exposures and drugs. In a minority of cases there is no clear cause and such cases are termed idiopathic interstitial pneumonia.|NCI|N|
C0206064|A disorder affecting the smallest coronary arteries. Causes include atherosclerosis and arterial spasm. Chest pain is a frequently observed symptom.|NCI|N|
C0206067|Focal epithelial hyperplasia is a benign hyperplasia of the oral mucosa induced by human papillomavirus (HPV) (Premoli-De-Percoco et al., 1993).|OMIM|N|
C0206068|A cardiac arrhythmia that is caused by interaction of two independently initiated cardiac impulses of different rates from two separate foci. Generally one focus is the SINOATRIAL NODE, the normal pacemaker. The ectopic focus is usually in the HEART VENTRICLE but can be in the HEART ATRIUM or the ATRIOVENTRICULAR NODE. Modulation of the parasystolic rhythm by the sinus rhythm depends on the completeness of entrance block surrounding the parasystolic focus.|MSH|N|
C0206073|Deliberate, often repetitive physical, verbal, and/or other types of abuse by one or more members against others of a household.|MSH|N|
C0206076|An account of all reproductive events and problems a person has experienced. An important aggregate factor in epidemiological studies of women''s health. The concept usually includes the number and timing of pregnancies and their outcomes, the incidence of breast feeding, and may include age of menarche and menopause, regularity of menstruation, fertility, gynecological or obstetric problems, or contraceptive usage.|NCI|N|
C0206081|A condition caused by the excessive secretion of ANDROGENS from the ADRENAL CORTEX; the OVARIES; or the TESTES. The clinical significance in males is negligible. In women, the common manifestations are HIRSUTISM and VIRILISM as seen in patients with POLYCYSTIC OVARY SYNDROME and ADRENOCORTICAL HYPERFUNCTION.|MSH|N|
C0206083|A central nervous system disorder caused by demyelination within the central basis pontis of the brain. It is characterized by spastic quadriplegia, pseudobulbar palsy and encephalopathy. It is observed in patients with severe hyponatremia, particularly when the hyponatremia is corrected too rapidly.|NCI|N|
C0206085|The Kleine-Levin hibernation syndrome, a rare disorder that occurs predominantly in males, is characterized by episodic attacks of aberrant behavior, hypersomnia, and increased feeding (megaphagia) and sex drives (Kleine, 1925; Levin, 1929).|OMIM|N|
C0206093|A neoplasm arising in the neuroectoderm, the portion of the ectoderm of the early embryo that gives rise to the central and peripheral nervous systems, including some glial cells.|HPO|N|
C0206094|A rare neoplasm usually occurring in infants. It is characterized by the presence of a mixture of melanin-containing epithelial cells and smaller neuroblast-like cells. It may involve the skull and facial bones, or the epididymis. It usually has a benign clinical course.|NCI|N|
C0206114|Loss or destruction of periodontal tissue caused by periodontitis or other destructive periodontal diseases or by injury during instrumentation. Attachment refers to the periodontal ligament which attaches to the alveolar bone. It has been hypothesized that treatment of the underlying periodontal disease and the seeding of periodontal ligament cells enable the creating of new attachment.|MSH|N|
C0206115|PAX6-related aniridia occurs either as an isolated ocular abnormality or as part of the Wilms tumor-aniridia-genital anomalies-retardation (WAGR) syndrome. Aniridia is a pan ocular disorder affecting the cornea, iris, intraocular pressure (resulting in glaucoma), lens (cataract and lens subluxation), fovea (foveal hypoplasia), and optic nerve (optic nerve coloboma and hypoplasia). Individuals with aniridia characteristically show nystagmus and impaired visual acuity (usually 20/100 - 20/200); however, milder forms of aniridia with subtle iris architecture changes, good vision, and normal foveal structure do occur. Other ocular involvement may include strabismus and occasionally microphthalmia. Although the severity of aniridia can vary between and within families, little variability is usually observed in the two eyes of an affected individual. WAGR syndrome. The risk for Wilms tumor is 42.5%-77%; of those who develop Wilms tumor, 90% do so by age four years and 98% by age seven years. Genital anomalies in males can include cryptorchidism and hypospadias (sometimes resulting in ambiguous genitalia), urethral strictures, ureteric abnormalities, and gonadoblastoma. While females typically have normal external genitalia, they may have uterine abnormalities and streak ovaries. Intellectual disability (defined as IQ <74) is observed in 70%; behavioral abnormalities include attention-deficit/hyperactivity disorder (ADHD), autism spectrum disorder, anxiety, depression, and obsessive-compulsive disorder. Other individuals with WAGR syndrome can have normal intellect without behavioral problems.|GeneReviews|N|
C0206138|A variant of systemic sclerosis characterized by calcinosis, Raynaud phenomenon, esophageal motility disorders, sclerodactyly, and telangiectasia.|NCI|N|
C0206139|A chronic, autoimmune inflammatory condition of the mucous membranes in the oral cavity that affects approximately two percent of the population and is most often seen in middle aged women. It is characterized by white, lacy patches; red, swollen tissue; papules and plaques; or open sores. The lesions are typically bilateral.|NCI|N|
C0206141|PDGFRA-associated chronic eosinophilic leukemia is a form of blood cell cancer characterized by an elevated number of cells called eosinophils in the blood. These cells help fight infections by certain parasites and are involved in the inflammation associated with allergic reactions. However, these circumstances do not account for the increased number of eosinophils in PDGFRA-associated chronic eosinophilic leukemia.\n\nAnother characteristic feature of PDGFRA-associated chronic eosinophilic leukemia is organ damage caused by the excess eosinophils. Eosinophils release substances to aid in the immune response, but the release of excessive amounts of these substances causes damage to one or more organs, most commonly the heart, skin, lungs, or nervous system. Eosinophil-associated organ damage can lead to a heart condition known as eosinophilic endomyocardial disease, skin rashes, coughing, difficulty breathing, swelling (edema) in the lower limbs, confusion, changes in behavior, or impaired movement or sensations. People with PDGFRA-associated chronic eosinophilic leukemia can also have an enlarged spleen (splenomegaly) and elevated levels of certain chemicals called vitamin B12 and tryptase in the blood.\n\nSome people with PDGFRA-associated chronic eosinophilic leukemia have an increased number of other types of white blood cells, such as neutrophils or mast cells. Occasionally, people with PDGFRA-associated chronic eosinophilic leukemia develop other blood cell cancers, such as acute myeloid leukemia or B-cell or T-cell acute lymphoblastic leukemia or lymphoblastic lymphoma.\n\nPDGFRA-associated chronic eosinophilic leukemia is often grouped with a related condition called hypereosinophilic syndrome. These two conditions have very similar signs and symptoms; however, the cause of hypereosinophilic syndrome is unknown.|MedlinePlus Genetics|N|
C0206143|A rare restrictive cardiomyopathy characterized by hypereosinophilia and fibrous thickening of the endocardium, with usually large thrombi against the ventricle walls, that can lead to cardiovascular complications such as heart failure and thromboembolism. It manifests with symptoms like edema, fatigue and shortness of breath. It is usually secondary to eosinophil-associated tissue damage and is associated with idiopathic hypereosinophilic syndrome, chronic eosinophilic leukemia, carcinoma, or lymphoma.|ORDO|N|
C0206146|Prolonged dysfunction of the myocardium after a brief episode of severe ischemia, with gradual return of contractile activity.|MONDO|N|
C0206151|An old term that is no longer used in the scientific literature. Cholera morbus refers to acute GASTROENTERITIS occurring in summer or autumn; characterized by severe cramps, diarrhea, and vomiting.|MSH|N|
C0206157|Nemaline myopathy is a disorder that primarily affects skeletal muscles, which are muscles that the body uses for movement. People with nemaline myopathy have muscle weakness (myopathy) throughout the body, but it is typically most severe in the muscles of the face; neck; trunk; and other muscles close to the center of the body (proximal muscles), such as those of the upper arms and legs. This weakness can worsen over time.  Affected individuals may have feeding and swallowing difficulties, foot deformities, abnormal curvature of the spine (scoliosis), and joint deformities (contractures). Most people with nemaline myopathy are able to walk, although some affected children may begin walking later than usual.  As the condition progresses, some people may require wheelchair assistance. In severe cases, the muscles used for breathing are affected and life-threatening breathing difficulties can occur.\n\nNemaline myopathy is divided into six types.  In order of decreasing severity, the types are: severe congenital, Amish, intermediate congenital, typical congenital, childhood-onset, and adult-onset. The types are distinguished by the age when symptoms first appear and the severity of symptoms; however, there is overlap among the various types. The severe congenital type is the most life-threatening. Most individuals with this type do not survive past early childhood due to respiratory failure. The Amish type solely affects the Old Order Amish population of Pennsylvania and is typically fatal in early childhood. The most common type of nemaline myopathy is the typical congenital type, which is characterized by muscle weakness and feeding problems beginning in infancy. Most of these individuals do not have severe breathing problems and can walk unassisted. People with the childhood-onset type usually develop muscle weakness in adolescence. The adult-onset type is the mildest of all the various types. People with this type usually develop muscle weakness between ages 20 and 50.|MedlinePlus Genetics|N|
C0206160|An elevation in the number of reticulocytes (immature erythrocytes) in the peripheral blood circulation.|HPO|N|
C0206171|Any infection acquired in the community, that is, contrasted with those acquired in a health care facility (CROSS INFECTION). An infection would be classified as community-acquired if the patient had not recently been in a health care facility or been in contact with someone who had been recently in a health care facility.|MSH|N|
C0206172|Common foot problems in persons with DIABETES MELLITUS, caused by any combination of factors such as DIABETIC NEUROPATHIES; PERIPHERAL VASCULAR DISEASES; and INFECTION. With the loss of sensation and poor circulation, injuries and infections often lead to severe foot ulceration, GANGRENE and AMPUTATION, SURGICAL.|MSH|N|
C0206177|The pressure within a CARDIAC VENTRICLE. Ventricular pressure waveforms can be measured in the beating heart by catheterization or estimated using imaging techniques (e.g., DOPPLER ECHOCARDIOGRAPHY). The information is useful in evaluating the function of the MYOCARDIUM; CARDIAC VALVES; and PERICARDIUM, particularly with simultaneous measurement of other (e.g., aortic or atrial) pressures.|MSH|N|
C0206178|Inflammation of the retina due to cytomegalovirus.|NCI|N|
C0206180|A type of T-cell lymphoma that is characterized by so-called hallmark cells with a pleomorphic appearance that express the CD30 antigen, are lobulated, and have indented nuclei.|HPO|N|
C0206182|Lymphomatoid papulosis (LyP) is a rare cutaneous condition characterized by chronic, recurrent, and self-regressing papulonodular skin eruptions. It belongs to the spectrum of primary cutaneous CD30+ lymphoproliferative disorders, along with primary cutaneous anaplastic large cell lymphoma (primary C-ALCL; see this term) with which it shares overlapping clinical and histopathologic features.|ORDO|N|
C0206186|A corrugated white lesion of the oral mucosa that usually occurs on the lateral or ventral surfaces of the tongue and may have a shaggy or frayed appearance.|HPO|N|
C0206228|The transmission of infectious disease or pathogens from health professional or health care worker to patients. It includes transmission via direct or indirect exposure to bacterial, fungal, parasitic, or viral agents.|MSH|N|
C0206229|The transmission of infectious disease or pathogens from patients to health professionals or health care workers. It includes transmission via direct or indirect exposure to bacterial, fungal, parasitic, or viral agents.|MSH|N|
C0206231|Displacement of bones out of line in relation to joints. It may be congenital or traumatic in origin.|MSH|N|
C0206239|Compression of the ULNAR NERVE in the cubital tunnel, which is formed by the two heads of the flexor carpi ulnaris muscle, humeral-ulnar aponeurosis, and medial ligaments of the elbow. This condition may follow trauma or occur in association with processes which produce nerve enlargement or narrowing of the canal. Manifestations include elbow pain and PARESTHESIA radiating distally, weakness of ulnar innervated intrinsic hand muscles, and loss of sensation over the hypothenar region, fifth finger, and ulnar aspect of the ring finger. (Joynt, Clinical Neurology, 1995, Ch51, p43)|MONDO|N|
C0206242|Ulnar neuropathies caused by mechanical compression of the nerve at any location from its origin at the BRACHIAL PLEXUS to its terminations in the hand. Common sites of compression include the retroepicondylar groove, cubital tunnel at the elbow (CUBITAL TUNNEL SYNDROME), and Guyon''s canal at the wrist. Clinical features depend on the site of injury, but may include weakness or paralysis of wrist flexion, finger flexion, and ulnar innervated intrinsic hand muscles, and impaired sensation over the ulnar aspect of the hand, fifth finger, and ulnar half of the ring finger. (Joynt, Clinical Neurology, 1995, Ch51, p43)|MSH|N|
C0206245|A rare inherited neuropathy characterized by deposition of amyloid in the peripheral nerves.|NCI|N|
C0206247|Neuropathy caused by amyloid deposition in the peripheral nerves.|NCI|N|
C0206275|An unmarried person whose spouse has died|SNOMEDCT_US|N|
C0206277|Death resulting from the presence of a disease in an individual, as shown by a single case report or a limited number of patients. This should be differentiated from DEATH, the physiological cessation of life and from MORTALITY, an epidemiological or statistical concept.|MSH|N|
C0206306|Conditions in which a bifurcation or trifurcation of the molar tooth root becomes denuded as a result of periodontal disease. It may be followed by tooth mobility, temperature sensitivity, pain, and alveolar bone resorption.|MSH|N|
C0206307|Most individuals with Canavan disease have the neonatal/infantile form. Although such infants appear normal early in life, by age three to five months, hypotonia, head lag, macrocephaly, and developmental delays become apparent. With age, children with neonatal/infantile-onset Canavan disease often become irritable and experience sleep disturbance, seizures, and feeding difficulties. Swallowing deteriorates, and some children require nasogastric feeding or permanent feeding gastrostomies. Joint stiffness increases, so that these children resemble individuals with cerebral palsy. Children with mild/juvenile Canavan disease may have normal or mildly delayed speech or motor development early in life without regression. In spite of developmental delay most of these children can be educated in typical classroom settings and may benefit from speech therapy or tutoring as needed. Most children with mild forms of Canavan disease have normal head size, although macrocephaly, retinitis pigmentosa, and seizures have been reported in a few individuals.|GeneReviews|N|
C0206308|The co-existence of a substance abuse disorder with a psychiatric disorder. The diagnostic principle is based on the fact that it has been found often that chemically dependent patients also have psychiatric problems of various degrees of severity.|MSH|N|
C0206366|A disorder characterized by benign depositions of calcium in the posterior longitudinal ligament. Signs and symptoms result from the compression of nerve roots and include motor and sensory disturbances in the lower and upper extremities, and pain in the neck and arms.|NCI|N|
C0206368|Exfoliation syndrome (XFS) is a common age-related disorder of the extracellular matrix that is frequently associated with severe chronic secondary open-angle glaucoma and cataract. XFS syndrome may affect up to 30% of people over 60 years of age worldwide and is biomicroscopically diagnosed by abnormal microfibrillar deposits on ocular structures that line the aqueous-bathed surfaces of the anterior segment (summary by Schlotzer-Schrehardt and Naumann, 2006).|OMIM|N|
C0206369|The presence of benign ectopic splenic tissue in the peritoneum.|NCI|N|
C0206525|Tuberculosis disease caused by Mycobacterium tuberculosis isolate that is resistant to one or more of the antitubercular medications.|MONDO|N|
C0206526|Tuberculosis disease that is caused by a multidrug-resistant strain of Mycobacterium tuberculosis.|NCI|N|
C0206554|The diagnosis odontodysplasia requires clinical and radiological exams, in which unusually large pulp chambers and large pulp room chambers with thin enamel and dentin are visible. It may affect either a single tooth or several teeth. The term regional odontodysplasia is used if several teeth are affected. It affects the deciduous and permanent dentitions in the maxilla, the mandible or both, although the maxilla is more frequently involved. A type of dental dysplasia occurring in dentinogenesis imperfecta in which the pulp chambers are enlarged and there is a reduced amount of coronal dentin.|HPO|N|
C0206586|An accumulation of endolymph in the inner ear (labyrinth) leading to buildup of pressure and distortion of intralabyrinthine structures, such as cochlea and semicircular canals. It is characterized by sensorineural hearing loss; tinnitus; and sometimes vertigo.|MONDO|N|
C0206603|Virus diseases caused by the CIRCOVIRIDAE.|MSH|N|
C0206604|Infections caused by viruses of the family arteriviridae.|MONDO|N|
C0206606|Virus diseases caused by the BIRNAVIRIDAE.|MSH|N|
C0206607|Infections with viruses of the genus torovirus, family coronaviridae.|MONDO|N|
C0206608|Infections with viruses of the genus FLAVIVIRUS, family FLAVIVIRIDAE.|MSH|N|
C0206609|Infections with viruses of the family FLAVIVIRIDAE.|MSH|N|
C0206611|Infections with viruses of the genus pestivirus, family flaviviridae.|MONDO|N|
C0206613|Infections with viruses of the family PARAMYXOVIRIDAE. This includes MORBILLIVIRUS INFECTIONS; RESPIROVIRUS INFECTIONS; PNEUMOVIRUS INFECTIONS; HENIPAVIRUS INFECTIONS; AVULAVIRUS INFECTIONS; and RUBULAVIRUS INFECTIONS.|MSH|N|
C0206614|Infections with viruses of the genus morbillivirus, family paramyxoviridae. Infections mainly cause acute disease in their hosts, although in some cases infection is persistent and leads to degenerative conditions.|MONDO|N|
C0206615|Infections with viruses of the genus PNEUMOVIRUS, family PARAMYXOVIRIDAE. This includes RESPIRATORY SYNCYTIAL VIRUS INFECTIONS, an important cause of respiratory disease in humans.|MSH|N|
C0206617|Infections caused by viruses of the genus cardiovirus, family picornaviridae.|MONDO|N|
C0206619|A benign or malignant neoplasm arising from the lymphatic vessels.|HPO|N|
C0206620|A cystic lymphatic lesion of the neck.|HPO|N|
C0206622|A benign neoplasm characterized by the presence of a glandular and a mesenchymal (fibromyomatous) component. It occurs in the uterine corpus, cervix, and uterine ligaments. A variant of adenomyoma associated with glandular architectural complexity is called atypical polypoid adenomyoma. Simple polypectomy is usually curative. Atypical polypoid adenomyoma may recur following polypectomy.|NCI|N|
C0206623|An invasive carcinoma composed of malignant glandular cells and malignant squamous cells.|NCI|N|
C0206624|A kind of neoplasm of the liver that originates from immature liver precursor cells and macroscopically is composed of tissue resembling fetal or mature liver cells or bile ducts.|HPO|N|
C0206625|A malignant neoplasm composed of a carcinomatous epithelial component and a sarcomatous mesenchymal component. Representative examples include malignant mixed mesodermal (Mullerian) tumor of the female reproductive system and carcinosarcoma of the salivary gland and the lung.|NCI|N|
C0206627|A group of tumors affecting the female reproductive system, characterized by the presence of epithelial and stromal elements. It includes the following clinicopathological entities: adenofibroma, adenomyoma, Mullerian adenosarcoma, and malignant mixed mesodermal (Mullerian) tumor.|NCI|N|
C0206628|A solid, unencapsulated tumor of the kidney composed of spindle mesenchymal cells that resemble fibroblasts or muscle cells. The homogeneous mass typically extends into the renal parenchyma and replaces most of the kidney. In most cases, mesoblastic nephroma is benign and occurs in the fetus or newborn, and rarely in the older child or the adult.|MONDO|N|
C0206629|A biphasic primary lung neoplasm, belonging to the group of sarcomatoid lung carcinomas (SLCs). The tumor contains both an epithelial well-differentiated component, showing tubular architecture resembling the normal fetal lung, and a mesenchymal undifferentiated stroma with a so-called ''blastema-like'' configuration that resembles an embryonic lung.|ORDO|N|
C0206630|A malignant mesenchymal neoplasm that affects the uterine corpus, and rarely, the ovaries, cervix, and vagina. In the uterine corpus it is classified as low grade or high grade endometrial stromal sarcoma. In the remainder of the anatomic sites it is classified as low grade endometrioid stromal sarcoma.|NCI|N|
C0206631|A benign, intermediate, or malignant mesenchymal neoplasm composed of adipose (fatty) tissue.|NCI|N|
C0206632|A lipoma with prominent vascularity. The vascular tissue is more abundant at the periphery of the tumor and contains fibrin thrombi. It occurs more frequently in younger individuals as a painful subcutaneous nodule, often on the arms.|NCI|N|
C0206633|A neoplasm with perivascular epithelioid cell differentiation often associated with tuberous sclerosis. It is characterized by a mixture of epithelioid cells, smooth muscle, vessels, and mature adipose tissue. The kidney is the most common site of involvement. Other sites of involvement include the liver, lung, lymph nodes, and retroperitoneum. The vast majority of cases follow a benign clinical course. However, cases of metastatic angiomyolipomas with sarcomatoid features have been described.|NCI|N|
C0206634|Myxoid liposarcoma is a soft tissue tumor that tends to occur in the limbs (especially the thigh) of patients ranging in age from 35 to 55 years. It is defined by the presence of a hypocellular spindle cell proliferation set in a myxoid background, often with mucin pooling. Lipoblasts tend to be small and often monovacuolated and to cluster around vessels or at the periphery of the lesion (review by Dei Tos, 2000).|OMIM|N|
C0206635|A benign soft tissue lesion arising from the adrenal gland. It is composed of mature adipose and hematopoietic/lymphoid tissues.|NCI|N|
C0206636|A multifocal benign neoplasm arising from bone or soft tissue. It is characterized by the presence of chondrocytes and is composed of hyaline cartilage.|NCI|N|
C0206637|A morphologic variant of chondrosarcoma arising from bone and soft tissue. It is characterized by the presence of malignant small round cells, biphasic growth pattern, and well differentiated hyaline cartilage. Clinical presentation includes pain and swelling. The clinical course is aggressive, with local recurrences and distant metastases.|NCI|N|
C0206638|A bone tumor composed of cellular spindle-cell stroma containing scattered multinucleated giant cells resembling osteoclasts.|HPO|N|
C0206639|Neoplasms composed of bony tissue, whether normal or of a soft tissue which has become ossified. The concept does not refer to neoplasms located in bones.|MSH|N|
C0206640|A benign central bone tumor composed of fibrous connective tissue within which bone is formed.|HPO|N|
C0206641|An autosomal dominant neoplastic chondrogenic process affecting multiple sites. It is caused by mutations in the EXT1 or EXT2 genes. Grossly and microscopically, the lesions resemble an osteochondroma.|NCI|N|
C0206642|A low grade malignant bone-forming mesenchymal neoplasm arising from the surface of the bone. It usually affects the distal posterior femur, the proximal tibia, and proximal humerus. Painless swelling is the usual clinical sign. Most patients are young adults and the prognosis is usually excellent.|NCI|N|
C0206643|Any neoplasm composed of fibrous tissue.|HPO|N|
C0206644|A benign neoplasm composed of fibroblastic spindle cells in a whorled storiform pattern. It is characterized by the presence of foam cells, inflammatory cells, hemosiderin deposition and stromal hemorrhage.|NCI|N|
C0206645|A rare, benign, locally aggressive osteolytic neoplasm. It is characterized by the presence of a rich collagenous stroma and spindle cells with minimal cellular atypia.|NCI|N|
C0206646|An insidious poorly circumscribed neoplasm arising from the deep soft tissues of the abdomen. It is characterized by the presence of elongated spindle-shaped fibroblasts, collagenous stroma formation, and an infiltrative growth pattern.|NCI|N|
C0206647|A sarcoma of the deep layers of the skin. The tumors are locally aggressive tends to recur but rarely metastatic. It can be classified into variants depending on the cell type tumors are derived from or by its characteristics: Pigmented variant from MELANIN-containing DERMAL DENDRITIC CELLS; Myxoid variant, myxoid STROMAL CELLS; Giant cell variant characterized by GIANT CELLS in the tumors; and Fibrosarcomatous variant chracterized by tumor areas histologically indistinguishable from FIBROSARCOMA.|MSH|N|
C0206648|A mesenchymal neoplasm characterized by solitary or multiple nodules involving the skin, striated muscles, bones and, sometimes, viscera. It usually appears as a subcutaneous nodule, but can also appear as an ulcer, pedunculated lesion, or similar to a hemangioma. Histology shows well-circumscribed tapered cell lobes, resembling smooth muscle cells. At its center, perivascular round cells (hemangiopericitoides) are usually observed, giving a biphasic appearance.|HPO|N|
C0206649|A benign, borderline, or malignant neoplasm characterized by the presence of an epithelial and a fibrous component. Representative examples are fibroadenoma and phyllodes tumor.|NCI|N|
C0206650|An adenoma containing fibrous tissue. It should be differentiated from ADENOFIBROMA which is a tumor composed of connective tissue (fibroma) containing glandular (adeno-) structures. (From Dorland, 27th ed)|MSH|N|
C0206651|A rare malignant neoplasm with melanocytic differentiation characterized by the presence of polygonal or spindle shaped clear cells. This sarcoma usually affects the tendons and aponeuroses and is associated with a poor prognosis due to recurrences and metastases.|NCI|N|
C0206652|A sarcoma characterized by the presence of small round or elongated malignant cells with a small amount of cytoplasm.|NCI|N|
C0206653|A benign, slow-growing neoplasm that arises from the dermis or subcutaneous tissue. It is characterized by the presence of well-differentiated smooth muscle cells which are arranged around numerous vessels.|NCI|N|
C0206654|A condition characterized by the presence of numerous small benign smooth muscle neoplasms located throughout the body.|NCI|N|
C0206655|A rapidly growing malignant mesenchymal neoplasm. It is characterized by the presence of round cells with myoblastic differentiation and a fibrovascular stroma resembling an alveolar growth pattern. The tumor usually presents in the extremities.|NCI|N|
C0206656|A poorly circumscribed morphologic variant of rhabdomyosarcoma. It is characterized by the presence of primitive skeletal muscle differentiation in any stage of myogenesis.|NCI|N|
C0206657|Alveolar soft part sarcoma is an unusual tumor with highly characteristic histopathology and ultrastructure, controversial histogenesis, and enigmatic clinical behavior (Lieberman et al., 1989; Ordonez, 1999). The typical histology of ASPS shows well-defined nests of cells with abundant pink cytoplasm. The loss of central cohesion produces a pseudoalveolar appearance (Ladanyi et al., 2001).|OMIM|N|
C0206658|A benign or malignant myomatous neoplasm arising from smooth muscle.|NCI|N|
C0206659|A non-seminomatous malignant germ cell tumor characterized by the presence of large germ cells with abundant cytoplasm resembling epithelial cells, geographic necrosis, high mitotic activity, and pseudoglandular and pseudopapillary structures formation. It can arise from the testis, ovary, and extragonadal sites (central nervous system and mediastinum).|NCI|N|
C0206660|A type of undifferentiated germ cell tumor that may be benign or malignant.|HPO|N|
C0206661|The presence of a gonadoblastoma, a neoplasm of a gonad that consists of aggregates of germ cells and sex cord elements.|HPO|N|
C0206663|A tumor that originates in cells from the primitive neural crest. This group of tumors is characteirzed by the presence of primitive cells with elements of neuronal and/or glial differentiation.|HPO|N|
C0206664|A germ cell tumor characterized by the presence of an embryonal carcinoma component and a teratoma component.|NCI|N|
C0206666|A rare gestational trophoblastic neoplasm characterized histologically by invasion of myometrium by intermediate trophoblastic cells without chorionic villi and containing human placental lactogen hormone (hPL). Tissue necrosis is usually absent and hemorrhage is mild. The tumor develops from the placental implantation site and always occurs following pregnancy, voluntary termination of pregnancy (VTP) or miscarriage. Indicative signs are irregular metrorrhagia some time after spontaneous miscarriage or VTP, presence of metastasis or unexplained metrorrhagia in the weeks and months following normal childbirth or ectopic pregnancy.|ORDO|N|
C0206667|Adrenocortical adenomas are benign tumors of the adrenal cortex.|HPO|N|
C0206669|A benign tumor of the liver of presumably epithelial origin.|HPO|N|
C0206671|A benign epithelial neoplasm arising from the sweat glands. It presents as a nodular lesion usually in the scalp, trunk, and proximal extremities. It is characterized by a nodular growth pattern. Complete excision is curative.|NCI|N|
C0206672|A benign cystic proliferation of the sweat glands with apocrine or eccrine differentiation. It usually presents as a dome-shaped, cystic papular or nodular lesion usually in the face and neck. It is a unilocular or mutlilocular lesion lined by an inner and an outer layer of epithelium. Complete excision is usually curative.|NCI|N|
C0206673|A benign sweat gland neoplasm usually affecting the lower eyelids and upper cheeks. The lesions are papular and are usually numerous. Morphologically, there are nests, cords, and tubules of epithelial cells present, surrounded by a dense stroma in the reticular dermis.|NCI|N|
C0206674|An adenoma arising from the glandular epithelium of the gastrointestinal tract. It is characterized by the presence of a villous architectural pattern. Most often it occurs in the large intestine, small intestine, and the stomach. The neoplastic epithelial cells show dysplastic features.|NCI|N|
C0206675|A benign, well-circumscribed neoplasm arising from mesothelial cells. It is characterized by the formation of glandular and tubular patterns. It usually involves the paratesticular region, uterus, and fallopian tube. Rare cases involving the pleura, peritoneum, adrenal gland, and liver have also been reported.|NCI|N|
C0206676|This is a non-human neoplastic process described in sheep.|NCI|N|
C0206677|A polypoid neoplasm arising from the glandular epithelium of the gastrointestinal tract. There is proliferation of glandular cells which may display dysplastic cytologic features. Representative examples include the adenomatous polyps of the colon and rectum.|NCI|N|
C0206680|A peritoneal mesothelioma affecting mainly young females and producing cysts of variable size and number lined by a single layer of benign mesothelial cells. The disease follows a benign course and is compatible with a normal life expectancy, requiring occasionally partial excision or decompression for relief of pain or other symptoms. Malignant potential is exceptional. (From Holland et al., Cancer Medicine, 3d ed, p1345)|MSH|N|
C0206681|A malignant neoplasm composed of glandular epithelial clear cells. Various architectural patterns may be seen, including papillary, tubulocystic, and solid.|NCI|N|
C0206682|The presence of an follicular adenocarcinoma of the thyroid gland.|HPO|N|
C0206683|A thyroid neoplasm of mixed papillary and follicular arrangement. Its biological behavior and prognosis is the same as that of a papillary adenocarcinoma of the thyroid. (From DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1271)|MONDO|N|
C0206684|A carcinoma that arises in a sebaseous gland (an exocrine gland of the skin that secretes sebum, a waxy substance)|HPO|N|
C0206685|A malignant glandular epithelial neoplasm consisting of secretory cells forming acinar patterns. Representative examples include the acinar cell carcinoma of the pancreas and the acinar adenocarcinoma of the prostate gland.|NCI|N|
C0206686|A malignant neoplasm of the adrenal cortex that may produce hormones such as cortisol, aldosterone, estrogen, or testosterone.|HPO|N|
C0206687|An adenocarcinoma characterized by the presence of cells resembling the glandular cells of the ENDOMETRIUM. It is a common histological type of ovarian CARCINOMA and ENDOMETRIAL CARCINOMA. There is a high frequency of co-occurrence of this form of adenocarcinoma in both tissues.|MSH|N|
C0206692|An adenocarcinoma of the breast arising from the lobules. This is a relatively uncommon carcinoma, represents approximately 10% of the breast adenocarcinomas and is often bilateral or multifocal.|NCI|N|
C0206693|A term referring to medullary carcinomas which can develop in various anatomic sites such as the thyroid gland, breast, colon, rectum, and small intestine.|NCI|N|
C0206694|A carcinoma morphologically characterized the presence of cuboidal mucous cells, goblet-like mucous cells, squamoid cells, cystic changes, and a fibrotic stromal formation. It can occur in several anatomic sites, including parotid gland, oral cavity, paranasal sinus, skin, breast, lung, larynx, and lacrimal ducts. It is classified as low or high grade.|NCI|N|
C0206695|A usually aggressive carcinoma composed of malignant cells exhibiting neuroendocrine differentiation.|NCI|N|
C0206696|A usually aggressive, poorly differentiated invasive adenocarcinoma characterized by the presence of malignant glandular cells in which the nucleus is pressed to one side by the presence of intracytoplasmic mucus. It may arise from the stomach, small and large intestine, ampulla of Vater, appendix, gallbladder, pancreas, lung, bladder, breast, and prostate gland.|NCI|N|
C0206697|A carcinoma arising from the sebaceous glands, sweat glands, or the hair follicles. Representative examples include sebaceous carcinoma, apocrine carcinoma, eccrine carcinoma, and pilomatrical carcinoma.|NCI|N|
C0206698|Cholangiocarcinoma is a primary cancer originating in the biliary epithelium i.e., the cholangiocytes, of the extrahepatic and intrahepatic biliary ducts. It is extremely invasive, develops rapidly, often metastasizes, and has a very poor prognosis. They are slow growing tumors which spread longitudinally along the bile ducts with neural, perineural and subepithelial extension.|HPO|N|
C0206699|An invasive adenocarcinoma characterized by cystic changes and the presence of malignant glandular cells which contain intracytoplasmic mucin. It may arise from the ovary, pancreas, appendix, and lung.|NCI|N|
C0206700|A malignant cystic serous or mucinous epithelial neoplasm characterized by the presence of malignant glandular epithelial cells forming papillary structures. Stromal invasion is present.|NCI|N|
C0206701|An adenocarcinoma that is characterized by the presence of papillary patterns and cellular budding. Psammoma bodies may be present. Representative examples include cervical serous adenocarcinoma, endometrial serous adenocarcinoma, ovarian serous adenocarcinoma, and primary peritoneal serous adenocarcinoma.|NCI|N|
C0206702|Klatskin tumor is an extra-hepatic cholangiocarcinoma (CCA, see this term) arising in the junction of the main right or left hepatic ducts to form the common hepatic duct.|ORDO|N|
C0206703|A malignant epithelial neoplasm composed of giant, pleomorphic cells.|NCI|N|
C0206704|A malignant epithelial neoplasm composed of large, atypical cells.|NCI|N|
C0206706|A well differentiated squamous cell carcinoma characterized by a papillary growth pattern, acanthosis, mild cytologic atypia, and pushing tumor margins. The most commonly affected anatomic sites are the oral cavity, nasal cavity, larynx, esophagus, anus, vagina, vulva, and the plantar region of the foot.|NCI|N|
C0206708|A precancerous condition characterized by dysplasia of the cervical epithelium. Cervical intraepithelial neoplasia (CIN) 1, 2 and 3 based on its relationship with the prognosis. CIN 1 is mild dysplasia, which is mostly observed because it disappears as part of its natural course. CIN 3 includes severe dysplasia and carcinoma in situ, and management involves treatment because it is highly likely to develop into invasive cancer.|HPO|N|
C0206709|A serous neoplasm in which the cysts and papillae are lined by a single layer of cells without atypia, architectural complexity or invasion.|NCI|N|
C0206710|A neoplastic proliferation of basal cells in the epidermis (part of the skin) or other anatomic sites (most frequently the salivary glands). The basal cell neoplastic proliferation in the epidermis results in basal cell carcinomas. The basal cell neoplastic proliferation in the salivary glands can be benign, resulting in basal cell adenomas or malignant, resulting in basal cell adenocarcinomas.|NCI|N|
C0206711|Pilomatrixoma, also known as calcifying epithelioma of Malherbe, is a superficial benign skin tumor that arises from hair follicle matrix cells. The lesions occur most commonly in the first or second decades. They occur thoughout the body but most often in the head and neck region (review by Jones et al., 2018).|OMIM|N|
C0206712|A malignant epithelial tumor of glandular tissue, especially the salivary glands, characterized by acini with mucus-producing cells and by the presence of malignant squamous elements. Most mucoepidermoid tumors are low-grade lesions readily cured by adequate excision. They may appear in any age group. They grow slowly. If high-grade, they behave aggressively, widely infiltrating the salivary gland and producing lymph node and distant metastases. (Dorland, 27th ed; from DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p575)|MSH|N|
C0206713|An intraluminal papillary epithelial neoplasm arising within the ducts. Representative examples are the intraductal breast papilloma and the salivary gland intraductal papilloma.|NCI|N|
C0206715|A neoplasm composed of neural epithelium, not necessarily a neoplasm located in the neural epithelium or neuroepithelium.|HPO|N|
C0206716|Gangliogliomas are rare tumors of the central nervous system. The are WHO grade I and considered low grade. They are well differentiated neuroepithelial tumors consisting of both dysplastic neuronal and neoplastic glial cells.|HPO|N|
C0206717|A malignant olfactory neuroblastoma arising from the olfactory epithelium of the superior nasal cavity and cribriform plate.|HPO|N|
C0206718|Ganglioneuroblastoma is a rare type of primitive neuroectodermal tumor (PNET; see this term), affecting almost exclusively infants and young children under the age of 10, usually occurring in the posterior mediastinum, adrenal medulla and extra-adrenal retroperitoneum (but sometimes in the neck and pelvis), with metastasis most often presenting in the bones, and characterized clinically by pain, stridor, shortness of breath, peripheral neurological signs, superior vena cava syndrome and congenital Horner syndrome (see this term), depending on the location of the tumor.|ORDO|N|
C0206719|Central neurocytoma is a very rare brain tumor of young adults (over 100 cases reported worldwide). It is typically found in the lateral ventricles and occasionally in the third ventricle. Symptoms are those of increased intracranial pressure: headache, nausea and vomiting, drowsiness, vision problems and mental changes. Total removal of the tumor is the therapy of choice. Post-operative prognosis is generally good.|ORDO|N|
C0206720|A neoplasm that is composed of squamous epithelial cells. Squamous cell carcinoma is a representative example.|NCI|N|
C0206721|An endophytic benign papillary epithelial neoplasm that results from the invagination and proliferation of epithelial cells in the underlying stroma. Representative examples are the inverted urothelial papilloma that arises from the urinary tract and inverted Schneiderian papilloma that arises from the nasal cavity or paranasal sinuses.|NCI|N|
C0206722|Neoplasms composed of tissues of the ovary or the testis, not neoplasms located in the ovaries or testes. Gonadal tissues include germ cells, cells from the sex cord, and gonadal stromal cells.|MONDO|N|
C0206723|A sex cord-gonadal stromal tumor consists of leydig cells; sertoli cells; and fibroblasts in varying proportions and degree of differentiation. Most such tumors produce androgens in the Leydig cells, formerly known as androblastoma or arrhenoblastoma. Androblastomas occur in the testis or the ovary causing precocious masculinization in the males, and defeminization, or virilization (virilism) in the females. In some cases, the Sertoli cells produce estrogens.|MONDO|N|
C0206724|A neoplasm arising in the ovary or testis. It is composed of granulosa cells, Leydig cells, Sertoli cells, and fibroblasts. Each of these cell types may constitute the only cellular component that is present in the neoplasm or it may be mixed with other cell types in various combinations. The prognosis can not always be predicted on histologic grounds alone. Approximately, 10% of these tumors may metastasize. Representative examples include granulosa cell tumor, Leydig cell tumor, Sertoli cell tumor, and tumors of the thecoma-fibroma group.|NCI|N|
C0206725|Subependymoma is a rare and slow growing type of ependymoma (see this term), often presenting in middle-aged adults, found more commonly in men than in women, usually located in the fourth and lateral ventricles and manifesting with variable symptoms including headache, nausea, and loss of balance. In some cases it can be asymptomatic. It is usually associated with a better prognosis than other forms of ependymoma.|ORDO|N|
C0206726|A rare histological variant of glioblastoma (WHO grade IV) characterized by a biphasic tissue pattern with alternating areas displaying glial and mesenchymal differentiation (WHO).|NCI|N|
C0206727|A benign or malignant neoplasm arising from the perineural cells in the sheaths surrounding the nerves. Representative examples include neurofibroma, schwannoma, and malignant peripheral nerve sheath tumor.|NCI|N|
C0206728|A neurofibroma in which Schwann cells proliferate inside the nerve sheath, producing an irregularly thickened, distorted, tortuous structure.|HPO|N|
C0206729|A form of malignant cancer of the connective tissue surrounding nerves. Given its origin and behavior, it is classified as a sarcoma.|HPO|N|
C0206730|A benign neoplasm arising from nerve sheaths. It is characterized by the presence of a myxoid stroma.|NCI|N|
C0206731|Angiofibroma consist of many often dilated vessels.|HPO|N|
C0206733|The presence of a capillary hemangioma, which are hemangiomas with small endothelial spaces.|HPO|N|
C0206734|A hemangioblastoma is a benign vascular neoplasm that arises almost exclusively in the central nervous system. Hemangioblastomas consist of a tightly packed cluster of small blood vessels forming a mass of up to 1 or 2 cm in diameter.|HPO|N|
C0206735|A melanoma characterized by the complete absence of melanin pigment in the melanoma cells. It occurs more frequently on the face and it is often associated with desmoplastic reaction.|NCI|N|
C0206736|A solitary, bluish, smooth surfaced macule, papule or plaque that is generally round or oval in shape. The histopathology of blue nevi varies by subtype, but general characteristics include a vertical wedge or bulbous shaped proliferation of spindle cells, dendritic melanocytes, and melanophages into a sclerotic dermis or subcutis.|HPO|N|
C0206737|A nevus characterized by the proliferation of nevus cells in the dermis without involvement of the dermal-epidermal junction.|NCI|N|
C0206738|A nevus characterized by the presence of spindle-shaped melanocytes.|NCI|N|
C0206739|A benign, acquired or congenital, usually single skin lesion. It can occur on any area of the body, but most commonly occurs on the face of children and the thighs of young females. It is characterized by a proliferation of large spindle, oval, or large epithelioid melanocytes in the dermal-epidermal junction. The melanocytic proliferation subsequently extends into the dermis.|NCI|N|
C0206740|A benign, intraosseous or extraosseous cystic neoplasm arising from tooth-forming tissues. It is characterized by the presence of a cyst lined by an ameloblastoma-like epithelium and ghost cells formation. The ghost cells may undergo calcification. It is treated with enucleation. Few recurrences have been reported for intraosseous neoplasms whereas no recurrences have been reported for extraosseous neoplasms.|NCI|N|
C0206743|Rhabdoid tumors are rare aggressive malignancies in infants and young children with a poor prognosis. The most common anatomic localizations are the central nervous system, the kidneys, and other soft tissues.|HPO|N|
C0206744|A rare immunodeficiency syndrome characterized by the decrease of the CD4-positive lymphocytes below 300 per cubic millimeter in the absence of identifiable immunodeficiency causes. Patients with this syndrome are at an increased risk of opportunistic infections.|NCI|N|
C0206746|Virus diseases caused by the hepadnaviridae.|MONDO|N|
C0206750|An infection caused by any coronavirus.|NCI|N|
C0206751|Virus diseases caused by rhabdoviridae. Important infections include rabies; ephemeral fever; and vesicular stomatitis.|MONDO|N|
C0206752|Virus diseases caused by members of the alphavirus genus of the family togaviridae.|MONDO|N|
C0206753|Virus diseases caused by the RUBIVIRUS genus, of the family TOGAVIRIDAE.|MSH|N|
C0206754|A tumor that originates from a neuroendocrine cell.|HPO|N|
C0206762|Congenital structural deformities of the upper and lower extremities collectively or unspecified.|MSH|N|
C0206764|Neoplasms composed of more than one type of neoplastic tissue.|MSH|N|
C0206765|A benign, intermediate, or malignant neoplasm that affects the connective and soft tissue.|NCI|N|
C0206766|Neoplasms composed of sebaceous or sweat gland tissue or tissue of other skin appendages. The concept does not refer to neoplasms located in the sebaceous or sweat glands or in the other skin appendages.|MSH|N|
C0206767|Neoplasms containing cyst-like formations or producing mucin or serum.|MONDO|N|
C0206768|Neoplasms, usually carcinoma, located within the center of an organ or within small lobes, and in the case of the breast, intraductally. The emphasis of the name is on the location of the neoplastic tissue rather than on its histological type. Most cancers of this type are located in the breast.|MSH|N|
C0206769|A collective term for the various types of nevi and melanomas.|MSH|N|
C0220597|Hodgkin lymphoma occurring in adults.|NCI|N|
C0220603|A benign or malignant, primary or metastatic neoplasm of the brain occurring in children.|NCI|N|
C0220605|Non-Hodgkin lymphoma occurring in adults.|NCI|N|
C0220611|An aggressive malignant mesenchymal neoplasm arising from skeletal muscle in children. Only a small percentage of tumors arise in the skeletal muscle of the extremities. The majority arise in other anatomic sites.|NCI|N|
C0220612|Non-Hodgkin lymphoma occurring in childhood.|NCI|N|
C0220613|Soft tissue sarcoma occurring in adults.|NCI|N|
C0220615|An acute myeloid leukemia occurring in adults.|NCI|N|
C0220616|A benign or malignant neoplasm that affects the Bartholin gland. Representative examples include adenoma, adenomyoma, adenocarcinoma, and squamous cell carcinoma.|NCI|N|
C0220620|A well differentiated neuroendocrine neoplasm of low grade arising from the digestive system. It is composed of islands of rounded, oxyphilic, or spindle-shaped cells of medium size, with small vesicular nuclei. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent. The tumor can occur anywhere in the digestive system; approximately 90% arise in the appendix.|NCI|N|
C0220621|Acute myeloid leukemia occurring in childhood.|NCI|N|
C0220624|A benign or malignant, primary or metastatic neoplasm of the brain occurring in adults.|NCI|N|
C0220630|A hepatocellular carcinoma or intrahepatic cholangiocarcinoma that occurs during adulthood.|NCI|N|
C0220633|Uveal melanoma is a highly malignant tumor that arises from the choroid or the ciliary body of the eye. It is the most common primary ocular malignancy in adults, although it has a low incidence (6 cases per 1,000,000 per year). A tendency for hematogenic spread to the liver accounts for up to 50% of patient deaths (summary by Lopez et al., 2007).|OMIM|N|
C0220635|A squamous cell carcinoma that has metastasized to the neck region from an unknown primary anatomic site.|NCI|N|
C0220636|A primary or metastatic malignant neoplasm that affects the major or minor salivary glands. Representative examples include carcinoma, lymphoma, and sarcoma.|NCI|N|
C0220641|A carcinoma arising in the lip or oral cavity. Most oral cavity carcinomas are squamous cell carcinomas of the tongue, buccal mucosa, or gums. Less frequent morphologic variants include mucoepidermoid carcinoma and adenocarcinoma. Lip carcinomas are usually basal cell or squamous cell carcinomas.|NCI|N|
C0220643|A primary or metastatic malignant neoplasm involving the nasal cavity and paranasal sinuses.|NCI|N|
C0220644|Hodgkin lymphoma occurring in childhood.|NCI|N|
C0220645|Soft tissue sarcoma occurring in childhood.|NCI|N|
C0220647|A carcinoma which has metastasized from an unknown primary anatomic site.|NCI|N|
C0220648|A urothelial carcinoma that arises from the renal pelvis and ureter.|NCI|N|
C0220650|A malignant neoplasm that has spread to the brain from another anatomic site or system. The majority are carcinomas (usually lung or breast carcinomas).|NCI|N|
C0220654|Diffuse spread of cancer to the meninges.|NCI|N|
C0220655|Presence of fluid in the pericardial space as a complication of malignant disease.|NCI|N|
C0220656|Accumulation of fluid in the peritoneal cavity resulting from the growth of primary or metastatic malignant neoplasms in the peritoneum.|NCI|N|
C0220658|Pfeiffer syndrome is an autosomal dominant craniosynostosis syndrome with characteristic anomalies of the hands and feet. Three clinical subtypes, which have important diagnostic and prognostic implications, have been identified. Type 1, the classic syndrome, is compatible with life and consists of craniosynostosis, midface deficiency, broad thumbs, broad great toes, brachydactyly, and variable syndactyly. Type 2 consists of cloverleaf skull with Pfeiffer hands and feet, together with ankylosis of the elbows. Type 3 is similar to type 2 but without cloverleaf skull. Ocular proptosis is severe, and the anterior cranial base is markedly short. Various visceral malformations have been found in association with type 3. Early demise is characteristic of types 2 and 3 (Cohen, 1993). Cohen and Barone (1994) further tabulated the findings in the 3 types of Pfeiffer syndrome.|OMIM|N|
C0220659|An acromelic dysplasia that is characterized by severe brachydactyly, peripheral dysostosis with facial dysostosis, nasal hypoplasia, and developmental delay.|ORDO|N|
C0220660|Congenital absence/hypoplasia of fingers excluding thumb, unilateral is a rare, non-syndromic, terminal transverse limb reduction defect characterized by unilateral absence of the terminal portions of digits 2 to 5, with a mildly hypoplastic thumb and small nail remnants on the digital stumps. Metacarpal bones may be variably reduced.|ORDO|N|
C0220662|Distal arthrogryposis type 1 is a disorder characterized by joint deformities (contractures) that restrict movement in the hands and feet. The term "arthrogryposis" comes from the Greek words for joint (arthro-) and crooked or hooked (gryposis). The characteristic features of this condition include permanently bent fingers and toes (camptodactyly), overlapping fingers, and a hand deformity in which all of the fingers are angled outward toward the fifth finger (ulnar deviation). Clubfoot, which is an inward- and upward-turning foot, is also commonly seen with distal arthrogryposis type 1. The specific hand and foot abnormalities vary among affected individuals. However, this condition typically does not cause any signs and symptoms affecting other parts of the body.|MedlinePlus Genetics|N|
C0220663|Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) is defined by a complex eyelid malformation characterized by four major features, all present at birth: blepharophimosis, ptosis, epicanthus inversus, and telecanthus. BPES type I includes the four major features and primary ovarian insufficiency; BPES type II includes only the four major features. Other ophthalmic manifestations that can be associated with BPES include dysplastic eyelids, lacrimal duct anomalies, strabismus, refractive errors, and amblyopia. Other craniofacial features may include a broad nasal bridge and low-set ears.|GeneReviews|N|
C0220664|Type D brachydactyly is defined as a short, broad distal phalanx in the thumb (summary by Johnson et al., 2003).|OMIM|N|
C0220666|DA3, or Gordon syndrome, is distinguished from other distal arthrogryposes by short stature and cleft palate (summary by Bamshad et al., 2009).
There are 2 syndromes with features overlapping those of DA3 that are also caused by heterozygous mutation in PIEZO2: distal arthrogryposis type 5 (DA5; 108145) and Marden-Walker syndrome (MWKS; 248700), which are distinguished by the presence of ocular abnormalities and mental retardation, respectively. McMillin et al. (2014) suggested that the 3 disorders may represent variable expressivity of the same condition.
For a phenotypic description and a discussion of genetic heterogeneity of distal arthrogryposis, see DA1 (108120).|OMIM|N|
C0220668|Congenital contractural arachnodactyly (CCA) appears to comprise a broad phenotypic spectrum. Classic CCA is characterized by arachnodactyly; flexion contractures of multiple joints including elbows, knees, hips, ankles, and/or fingers; kyphoscoliosis (usually progressive); a marfanoid habitus (a long and slender build, dolichostenomelia, pectus deformity, muscular hypoplasia, highly arched palate); and abnormal "crumpled" ears. At the mildest end, parents who are diagnosed retrospectively upon evaluation of their more severely affected child may show a lean body build, mild arachnodactyly, mild contractures without impairment, and minor ear abnormalities. At the most severe end is "severe CCA with cardiovascular and/or gastrointestinal anomalies," a rare phenotype in infants with pronounced features of CCA (severe crumpling of the ears, arachnodactyly, contractures, congenital scoliosis, and/or hypotonia) and severe cardiovascular and/or gastrointestinal anomalies. Phenotypic expression can vary within and between families.|GeneReviews|N|
C0220669|A genetic epileptic syndrome characterized by the occurrence of afebrile repeated seizures in healthy infants, between the third and eighth month of life with clusters (8-10 a day) of repeated and brief episodes (2-5 minutes) over a few days. They are usually focal but can sometimes become generalized. A family history of the same epilepsy is a constant finding. The disease is genetically heterogeneous, in the majority of cases, mutations in the proline-rich transmembrane protein 2 (PRRT2) gene located at 16p11.2 have been found. Mutations have also been found in the SCN2A gene (2q24.3) encoding the brain sodium channel NaV1.2 and rarely in the KCNQ2 (20q13.33) and KCNQ3 (8q24) genes both encoding potassium channels. Additionally, three other chromosomal loci have been identified that are mapped to chromosome 19q, 16p and 1p. Transmitted as an autosomal dominant trait with incomplete penetrance.|SNOMEDCT_US|N|
C0220681|A rare branchial arches and limb primordia development disorder with characteristics of variable degrees of uni or bilateral craniofacial malformation and radial defects that result in extremely variable phenotypic manifestations. Characteristic features include low postnatal weight, short stature, vertebral defects, hearing loss, and facial dysmorphism (including facial asymmetry, external, middle and inner ear malformations, orofacial clefts, and mandibular hypoplasia). These features are invariably associated with radial defects, such as preaxial polydactyly, thumb and/or radius hypoplasia/agenesis, or triphalangeal thumb. Cardiac, pulmonary, renal, and central nervous system involvement has also been reported.|SNOMEDCT_US|N|
C0220685|Achondrogenesis type II (ACG2) is characterized by severe micromelic dwarfism with small chest and prominent abdomen, incomplete ossification of the vertebral bodies, and disorganization of the costochondral junction. ACG2 is an autosomal dominant trait occurring mostly as new mutations. However, somatic and germline mosaicism have been reported (summary by Comstock et al., 2010).|OMIM|N|
C0220686|A very rare genetic disorder with characteristics of the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate and severe joint contractures. Less than 20 cases have been reported in the literature. The fingers are thin with absent knuckles and reduced creases over the joints and patients show an inability to make a full fist. Additional findings may include deformed ears, ptosis, an inability to open the mouth fully, heart defects, and clubfoot. There are currently no human genes associated with this disease.|SNOMEDCT_US|N|
C0220687|KBG syndrome is typically characterized by macrodontia (especially of the upper central incisors), characteristic facial features (triangular face, brachycephaly, synophrys, widely spaced eyes, broad or bushy eyebrows, prominent ears, prominent nasal bridge, bulbous nose, anteverted nares, long philtrum, and thin vermilion of the upper lip), short stature, developmental delay / intellectual disability, and behavioral issues. Affected individuals may have feeding difficulties (particularly in infancy), skeletal anomalies (brachydactyly, large anterior fontanelle with delayed closure, scoliosis), hearing loss (conductive, mixed, and sensorineural), seizure disorder, and brain malformations. There is significant variability in the clinical findings, even between affected members of the same family.|GeneReviews|N|
C0220690|A benign form of macrocephaly, sometimes identified with Sotos syndrome, with normal or near-normal birth weight and length with subsequent obesity, variable developmental delay, and typical square facies with frontal bossing, dished-out midface, biparietal narrowing, and long philtrum.|JABL|N|
C0220692|A rare developmental anomaly, affecting primarily the anterior part of the maxilla and nasal complex. Affected individuals typically have an unusually flat, underdeveloped midface, with an abnormally short nose and flat nasal bridge, underdeveloped upper jaw, relatively protruding lower jaw and/or a ''reverse overbite'' (or class III malocclusion). Hypoplasia of distal phalanges of fingers was reported in some cases. The pathogenesis remains uncertain, most reported cases were sporadic.|SNOMEDCT_US|N|
C0220693|Microcephaly strictly means abnormally small head size, but usually refers to an occipitofrontal head circumference below -2 SD from the mean for the infant's gestational age, sex, and ethnic origin. Microcephaly may appear as an isolated trait or in association with other malformations. It may also be sporadic or familial. Some familial cases are autosomal dominant, but most appear to be recessive (see 251200) (summary by Merlob et al., 1988).|OMIM|N|
C0220697|Polydactyly refers to the occurrence of supernumerary digits and is the most frequent of congenital hand and foot deformities. Based on the location of the extra digits, polydactyly can be classified into preaxial, involving the thumb or great toe; postaxial, affecting the fifth digit; and central, involving the 3 central digits. Postaxial polydactyly (PAP) is further subclassified into 2 types: in type A, a well-formed extra digit articulates with the fifth or a sixth metacarpal, whereas in type B, a rudimentary, poorly developed extra digit is present (summary by Umm-e-Kalsoom et al., 2012).
Genetic Heterogeneity of Postaxial Polydactyly
Other forms of postaxial polydactyly type A include PAPA2 (602085) on chromosome 13q21; PAPA3 (607324) on chromosome 19p13; PAPA4 (608562) on chromosome 7q22; PAPA5 (263450) on chromosome 13q13; PAPA6 (615226), caused by mutation in the ZNF141 gene (194648) on chromosome 4p16; PAPA7 (617642), caused by mutation in the IQCE gene (617631) on chromosome 7p22; PAPA8 (618123), caused by mutation in the GLI1 gene (165220) on chromosome 12q13; PAPA9 (618219), caused by mutation in the FAM98A gene (617273) on chromosome 8q22; and PAPA10 (618498), caused by mutation in the KIAA0825 gene (617266) on chromosome 5q15.|OMIM|N|
C0220701|Any retinitis pigmentosa in which the cause of the disease is a mutation in the RP1 gene.|MONDO|N|
C0220702|A schizophrenia that has material basis in an autosomal dominant mutation of SCZD1 on chromosome 5q23-q35.|MONDO|N|
C0220704|Individuals with 22q11.2 deletion syndrome (22q11.2DS) can present with a wide range of features that are highly variable, even within families. The major clinical manifestations of 22q11.2DS include congenital heart disease, particularly conotruncal malformations (ventricular septal defect, tetralogy of Fallot, interrupted aortic arch, and truncus arteriosus), palatal abnormalities (velopharyngeal incompetence, submucosal cleft palate, bifid uvula, and cleft palate), immune deficiency, characteristic facial features, and learning difficulties. Hearing loss can be sensorineural and/or conductive. Laryngotracheoesophageal, gastrointestinal, ophthalmologic, central nervous system, skeletal, and genitourinary anomalies also occur. Psychiatric illness and autoimmune disorders are more common in individuals with 22q11.2DS.|GeneReviews|N|
C0220710|Medium-chain acyl-coenzyme A dehydrogenase (MCAD) is one of the enzymes involved in mitochondrial fatty acid ß-oxidation. Fatty acid ß-oxidation fuels hepatic ketogenesis, which provides a major source of energy once hepatic glycogen stores become depleted during prolonged fasting and periods of higher energy demands. MCAD deficiency is the most common disorder of fatty acid ß-oxidation and one of the most common inborn errors of metabolism. Most children are now diagnosed through newborn screening. Clinical symptoms in a previously apparently healthy child with MCAD deficiency include hypoketotic hypoglycemia and vomiting that may progress to lethargy, seizures, and coma triggered by a common illness. Hepatomegaly and liver disease are often present during an acute episode. Children appear normal at birth and – if not identified through newborn screening – typically present between age three and 24 months, although presentation even as late as adulthood is possible. The prognosis is excellent once the diagnosis is established and frequent feedings are instituted to avoid any prolonged periods of fasting.|GeneReviews|N|
C0220711|A genetic disorder characterized by deficiency of the enzyme long-chain acyl-coenzyme A dehydrogenase that metabolizes long-chain fatty acids. Signs and symptoms appear in infancy or childhood and may be triggered during fasting, illness or exercise. They include hypoglycemia, muscle weakness and lethargy.|NCI|N|
C0220721|Juvenile-onset cataract-46 with or without arrhythmic cardiomyopathy (CRCT46) is characterized by onset of cataract in the first decades of life, associated with variable onset of a severe form of arrhythmic cardiomyopathy, with mild impairment of left ventricular systolic function but severe ventricular arrhythmias resulting in sudden cardiac death. Affected individuals are descendants of the Hutterite founder population (Abdelfatah et al., 2019).|OMIM|N|
C0220722|An autosomal recessive subtype of cerebrooculofacioskeletal syndrome caused by mutation(s) in the ERCC6 gene, encoding DNA excision repair protein ERCC-6.|NCI|N|
C0220724|Constriction rings syndrome is a congenital limb malformation disorder with an extremely variable clinical presentation characterized by the presence of partial to complete, congenital, fibrous, circumferential, constriction bands/rings on any part of the body, although a particular predilection for the upper or lower extremities is seen. Phenotypes range from only a mild skin indentation to complete amputation of parts of the fetus (e.g. digits, distal limb). Compression from the rings may lead to edema, skeletal anomalies (e.g. fractures, foot deformities) and, infrequently, neural compromise.|ORDO|N|
C0220726|Diastrophic dysplasia (DTD) is characterized by limb shortening, normal-sized head, hitchhiker thumbs, spinal deformities (scoliosis, exaggerated lumbar lordosis, cervical kyphosis), and contractures of the large joints with deformities and early-onset osteoarthritis. Other typical findings are ulnar deviation of the fingers, gap between the first and second toes, and clubfoot. On occasion, the disease can be lethal at birth, but most affected individuals survive the neonatal period and develop physical limitations with normal intelligence.|GeneReviews|N|
C0220730|Fryns syndrome is characterized by diaphragmatic defects (diaphragmatic hernia, eventration, hypoplasia, or agenesis); characteristic facial appearance (coarse facies, wide-set eyes, a wide and depressed nasal bridge with a broad nasal tip, long philtrum, low-set and anomalous ears, tented vermilion of the upper lip, wide mouth, and a small jaw); short distal phalanges of the fingers and toes (the nails may also be small); pulmonary hypoplasia; and associated anomalies (polyhydramnios, cloudy corneas and/or microphthalmia, orofacial clefting, renal dysplasia / renal cortical cysts, and/or malformations involving the brain, cardiovascular system, gastrointestinal system, and/or genitalia). Survival beyond the neonatal period is rare. Data on postnatal growth and psychomotor development are limited; however, severe developmental delay and intellectual disability are common.|GeneReviews|N|
C0220742|A very rare syndrome with characteristics of the combination of hypertelorism, cleft lip and palate and microtia. Nine cases have been reported in the literature in seven families. Some patients have associated cardiac or renal congenital malformations. Short stature and intellectual deficiency are common. The reported cases support autosomal recessive inheritance.|SNOMEDCT_US|N|
C0220743|Hypophosphatasia is characterized by defective mineralization of growing or remodeling bone, with or without root-intact tooth loss, in the presence of low activity of serum and bone alkaline phosphatase. Clinical features range from stillbirth without mineralized bone at the severe end to pathologic fractures of the lower extremities in later adulthood at the mild end. While the disease spectrum is a continuum, seven clinical forms of hypophosphatasia are usually recognized based on age at diagnosis and severity of features: Perinatal (severe): characterized by pulmonary insufficiency and hypercalcemia. Perinatal (benign): prenatal skeletal manifestations that slowly resolve into one of the milder forms. Infantile: onset between birth and age six months of clinical features of rickets without elevated serum alkaline phosphatase activity. Severe childhood (juvenile): variable presenting features progressing to rickets. Mild childhood: low bone mineral density for age, increased risk of fracture, and premature loss of primary teeth with intact roots. Adult: characterized by stress fractures and pseudofractures of the lower extremities in middle age, sometimes associated with early loss of adult dentition. Odontohypophosphatasia: characterized by premature exfoliation of primary teeth and/or severe dental caries without skeletal manifestations.|GeneReviews|N|
C0220744|Multiple intestinal atresia is a rare form of intestinal atresia characterized by the presence of numerous atresic segments in the small bowel (duodenum) or large bowel and leading to symptoms of intestinal obstruction: vomiting, abdominal bloating and inability to pass meconium in newborns.|ORDO|N|
C0220748|The cartilage-hair hypoplasia – anauxetic dysplasia (CHH-AD) spectrum disorders are a continuum that includes the following phenotypes: Metaphyseal dysplasia without hypotrichosis (MDWH). Cartilage-hair hypoplasia (CHH). Anauxetic dysplasia (AD). CHH-AD spectrum disorders are characterized by severe disproportionate (short-limb) short stature that is usually recognized in the newborn, and occasionally prenatally because of the short extremities. Other findings include joint hypermobility, fine silky hair, immunodeficiency, anemia, increased risk for malignancy, gastrointestinal dysfunction, and impaired spermatogenesis. The most severe phenotype, AD, has the most pronounced skeletal phenotype, may be associated with atlantoaxial subluxation in the newborn, and may include cognitive deficiency. The clinical manifestations of the CHH-AD spectrum disorders are variable, even within the same family.|GeneReviews|N|
C0220754|If untreated, young children with profound biotinidase deficiency usually exhibit neurologic abnormalities including seizures, hypotonia, ataxia, developmental delay, vision problems, hearing loss, and cutaneous abnormalities (e.g., alopecia, skin rash, candidiasis). Older children and adolescents with profound biotinidase deficiency often exhibit motor limb weakness, spastic paresis, and decreased visual acuity. Once vision problems, hearing loss, and developmental delay occur, they are usually irreversible, even with biotin therapy. Individuals with partial biotinidase deficiency may have hypotonia, skin rash, and hair loss, particularly during times of stress.|GeneReviews|N|
C0220756|Niemann-Pick disease type C (NPC) is a slowly progressive lysosomal disorder whose principal manifestations are age dependent. The manifestations in the perinatal period and infancy are predominantly visceral, with hepatosplenomegaly, jaundice, and (in some instances) pulmonary infiltrates. From late infancy onward, the presentation is dominated by neurologic manifestations. The youngest children may present with hypotonia and developmental delay, with the subsequent emergence of ataxia, dysarthria, dysphagia, and, in some individuals, epileptic seizures, dystonia, and gelastic cataplexy. Although cognitive impairment may be subtle at first, it eventually becomes apparent that affected individuals have a progressive dementia. Older teenagers and young adults may present predominantly with apparent early-onset dementia or psychiatric manifestations; however, careful examination usually identifies typical neurologic signs.|GeneReviews|N|
C0220757|Blount disease is a developmental condition characterized by disordered endochondral ossification of the medial part of the proximal tibial physis resulting in multiplanar deformities of the lower limb (review by Sabharwal, 2009).|OMIM|N|
C0220761|The development of two genetically distinct EMBRYOS in a single UTERUS at the same time, from two separate OVA fertilized by two separate SPERMATOZOA.|MSH|N|
C0220766|A type of adrenal hypoplasia with congenital onset.|HPO|N|
C0220767|Craniofrontonasal syndrome is an X-linked developmental disorder that shows paradoxically greater severity in heterozygous females than in hemizygous males. Females have frontonasal dysplasia, craniofacial asymmetry, craniosynostosis, bifid nasal tip, grooved nails, wiry hair, and abnormalities of the thoracic skeleton, whereas males typically show only hypertelorism (Twigg et al., 2004; Wieland et al., 2004).|OMIM|N|
C0220769|Opitz-Kaveggia syndrome (OKS) is an X-linked recessive mental retardation syndrome characterized by dysmorphic features, including relative macrocephaly, hypertelorism, downslanted palpebral fissures, prominent forehead with frontal hair upsweep, and broad thumbs and halluces. Most have hypotonia, constipation, and partial agenesis of the corpus callosum. Some patients have sensorineural hearing loss and joint laxity evolving into joint contractures. Affected individuals tend to be hyperactive and talkative (summary by Graham et al., 1999).
In their original family, Opitz and Kaveggia (1974) named the disorder 'FG syndrome' according to the Opitz system of using initials of patients' surnames.
Genetic Heterogeneity of FG Syndrome
Other forms of 'FG syndrome' were characterized due to the similar clinical features observed by Opitz and Kaveggia (1974). FGS2 (300321) is caused by mutation in the FLNA gene (300017) on chromosome Xq28 and FGS4 (300422) is caused by mutation in the CASK gene (300172) on chromosome Xp11. FGS3 (300406) has been mapped to Xp22.3, and FGS5 (300581) to Xq22.3.
Risheg et al. (2007) suggested that the designation Opitz-Kaveggia syndrome be reserved for those cases with mutation in the MED12 gene. In part this is justified by the fact that a MED12 mutation was found in the family originally reported by Opitz and Kaveggia (1974).|OMIM|N|
C0220810|What are birth defects? A birth defect is a problem that happens while a baby is developing in the mother''s body. Most birth defects happen during the first 3 months of pregnancy. One out of every 33 babies in the United States is born with a birth defect.CHAR(13) A birth defect may affect how the body looks, works, or both. Some birth defects like cleft lip or neural tube defects are structural problems that can be easy to see. Others, like heart disease, are found using special tests. Birth defects can range from mild to severe. How a birth defect affects a child''s life depends mostly on which organ or body part is involved and how severe the defect is.CHAR(13) What causes birth defects? For some birth defects, researchers know the cause. But for many birth defects, the exact cause is unknown. Researchers think that most birth defects are caused by a complex mix of factors, which can include:CHAR(13) 	-Genetics. One or more genes might have a change or mutation that prevents them from working properly. For example, this happens in Fragile X syndrome. With some defects, a gene or part of the gene might be missing. CHAR(13) 	-Chromosomal problems. In some cases, a chromosome or part of a chromosome might be missing. This is what happens in Turner syndrome. In other cases, such as with Down syndrome, the child has an extra chromosome. . CHAR(13) 	-Exposures to medicines, chemicals, or other toxic substances. For example, alcohol misuse can cause fetal alcohol spectrum disorders. CHAR(13) 	-Infections during pregnancy. For example, infection with Zika virus during pregnancy can cause a serious defect in the brain. CHAR(13) 	-Lack of certain nutrients. Not getting enough folic acid before and during pregnancy is a key factor in causing neural tube defects. CHAR(13)  Who is at risk of having a baby with birth defects? Certain factors may might increase the chances of having a baby with a birth defect, such as:CHAR(13) 	-Smoking, drinking alcohol, or taking certain ""street"" drugs during pregnancy. CHAR(13) 	-Having certain medical conditions, such as obesity or uncontrolled diabetes, before and during pregnancy. CHAR(13) 	-Taking certain medicines. CHAR(13) 	-Having someone in your family with a birth defect. To learn more about your risk of having a baby with a birth defect, you can talk with a genetic counselor,. CHAR(13) 	-Being an older mother, typically over the age of 34 years. CHAR(13)  How are birth defects diagnosed? Health care providers can diagnose some birth defects during pregnancy, using prenatal testing. That''s why it important to get regular prenatal care.CHAR(13) Other birth defects may not be found until after the baby is born. Providers may find them through newborn screening. Some defects, such as club foot, are obvious right away. Other times, the health care provider may not discover a defect until later in life, when the child has symptoms.CHAR(13) What are the treatments for birth defects? Children with birth defects often need special care and treatments. Because the symptoms and problems caused by birth defects vary, the treatments also vary. Possible treatments may include surgery, medicines, assistive devices, physical therapy, and speech therapy.CHAR(13) Often, children with birth defects need a variety of services and may need to see several specialists. The primary health care provider can coordinate the special care that the child needs.CHAR(13) Can birth defects be prevented? Not all birth defects can be prevented. But there are things you can do before and during pregnancy to increase your chance of having a healthy baby:CHAR(13) 	-Start prenatal care as soon as you think you might be pregnant, and see your health care provider regularly during pregnancy. CHAR(13) 	-Get 400 micrograms (mcg) of folic acid every day. If possible, you should start taking it at least one month before you get pregnant. CHAR(13) 	-Don''t drink alcohol, smoke, or use ""street"" drugs. CHAR(13) 	-Talk to your health care provider about any medicines you are taking or thinking about taking. This includes prescription and over-the-counter medicines, as well as dietary or herbal supplements. CHAR(13) 	-Learn how to prevent infections during pregnancy. CHAR(13) 	-If you have any medical conditions, try to get them under control before you get pregnant. CHAR(13)  Centers for Disease Control and PreventionCHAR(13)|MEDLINEPLUS|N|
C0220854|A clinical finding in which there is deeper breathing than normal. (ACC-AHA)|NCI|N|
C0220870|A feeling of faintness; a reeling sensation. Lightheadedness is medically distinct from dizziness, unsteadiness, and vertigo.|NCI|N|
C0220977|An disease or disorder caused by infection with Histoplasma capsulatum var. duboisii.|MONDO|N|
C0220981|Metabolic acidosis (MA) is characterized by a fall in blood pH due to a reduction of serum bicarbonate concentration. This can occur as a result of either the accumulation of acids (high anion gap MA) or the loss of bicarbonate from the gastrointestinal tract or the kidney (hyperchloremic MA). By definition, MA is not due to a respirary cause.|HPO|N|
C0220982|Acidosis resulting from accumulation of ketone bodies.|HPO|N|
C0220983|Metabolic alkalosis is defined as a disease state where the pH is elevated to greater than 7.45 secondary to some metabolic process.|HPO|N|
C0220987|An extremely rare autosomal recessive inherited disorder caused by mutations in the UMPS gene. It is characterized by deficiency of the activity of the pyrimidine pathway enzyme uridine 5''-monophosphate (UMP) synthase. Clinical manifestations include growth retardation, anemia, and increased excretion of orotic acid in the urine.|NCI|N|
C0220988|An increased concentration of xanthine in the urine.|HPO|N|
C0220989|Acquired partial lipodystrophy is characterized clinically by the gradual onset of bilaterally symmetrical loss of subcutaneous fat from the face, neck, upper extremities, thorax, and abdomen, in the 'cephalocaudal' sequence, sparing the lower extremities (summary by Misra et al., 2004). The disorder is not inherited in a classic mendelian pattern; it rather represents a phenotype with a complex etiology. Affected individuals may have genetic susceptibility factors that require the additional presence of environmental factors or acquired disorders to be expressed (summary by Hegele et al., 2006). Most cases are sporadic, family history is negative, and females are more often affected than males (ratio, 4:1).
There is an association between APLD and autoimmune diseases (Misra and Garg, 2003; Misra et al., 2004), and a subset of patients have APLD associated with low serum complement component C3 and the autoantibody C3 nephritic factor, with or without membranoproliferative glomerulonephritis (APLDC3; 613913).
Acquired partial lipodystrophy is distinct from inherited forms of partial lipodystrophy, which are metabolic disorders that show clear mendelian inheritance (see, e.g., FPLD1, 608600).|OMIM|N|
C0220991|Rotor syndrome is characterized by mild conjugated and unconjugated hyperbilirubinemia that usually begins shortly after birth or in childhood. Jaundice may be intermittent. Conjunctival icterus may be the only clinical manifestation.|GeneReviews|N|
C0220992|Histidinemia is a metabolic disorder characterized by increased levels of histidine in blood, urine, and cerebrospinal fluid, and decreased levels of the metabolite urocanic acid in blood, urine, and skin cells. Although histidinemia was originally associated with mental retardation and speech defects, it is generally considered to be a benign disorder (Levy et al., 2001). However, it is possible that histidinemia may be a risk factor for developmental disorders in certain individuals under specific circumstances, such as perinatal events (Ishikawa, 1987).|OMIM|N|
C0220993|Cystathioninuria, an autosomal recessive phenotype with no striking pathologic features, is characterized by abnormal accumulation of plasma cystathionine, leading to increased urinary excretion. Because of the inconsistency and wide variety of disease associations, cystathioninuria is considered to be a benign biochemical anomaly (Mudd et al., 2001).|OMIM|N|
C0220998|A type of hypothyroidism that results from a defect in thyrotropin-releasing hormone activity.|HPO|N|
C0221002|A type of hyperparathyroidism caused by a primary abnormality of the parathyroid glands (e.g., adenoma, carcinoma, hyperplasia). Primary hyperparathyroidism is associated with hyercalcemia.|HPO|N|
C0221005|A complication of poorly controlled type 1 diabetes mellitus in children characterized by linear growth impairment, glycogenic hepatopathy, and Cushingoid features.|NCI|N|
C0221011|Malignant atrophic papulosis (MAP) is a rare, chronic, thrombo-obliterative vasculopathy characterized by papular skin lesions with central porcelain-white atrophy and a surrounding teleangiectatic rim. Systemic lesions may affect the gastrointestinal tract and the central nervous system (CNS) and are potentially lethal.|ORDO|N|
C0221013|Systemic mastocytosis is a blood disorder that can affect many different body systems. Individuals with the condition can develop signs and symptoms at any age, but it usually appears after adolescence.\n\nSigns and symptoms of systemic mastocytosis often include extreme tiredness (fatigue), skin redness and warmth (flushing), nausea, abdominal pain, bloating, diarrhea, the backflow of stomach acids into the esophagus (gastroesophageal reflux), nasal congestion, shortness of breath, low blood pressure (hypotension), lightheadedness, and headache. Some affected individuals have attention or memory problems, anxiety, or depression. Many individuals with systemic mastocytosis develop a skin condition called urticaria pigmentosa, which is characterized by raised patches of brownish skin that sting or itch with contact or changes in temperature. Nearly half of individuals with systemic mastocytosis will experience severe allergic reactions (anaphylaxis).\n\nThere are five subtypes of systemic mastocytosis, which are differentiated by their severity and the signs and symptoms. The mildest forms of systemic mastocytosis are the indolent and smoldering types. Individuals with these types tend to have only the general signs and symptoms of systemic mastocytosis described above. Individuals with smoldering mastocytosis may have more organs affected and more severe features than those with indolent mastocytosis. The indolent type is the most common type of systemic mastocytosis.\n\nThe severe types include aggressive systemic mastocytosis, systemic mastocytosis with an associated hematologic neoplasm, and mast cell leukemia. These types are associated with a reduced life span, which varies among the types and affected individuals. In addition to the general signs and symptoms of systemic mastocytosis, these types typically involve impaired function of an organ, such as the liver, spleen, or lymph nodes. The organ dysfunction can result in an abnormal buildup of fluid in the abdominal cavity (ascites). Aggressive systemic mastocytosis is associated with a loss of bone tissue (osteoporosis and osteopenia) and multiple bone fractures. Systemic mastocytosis with an associated hematologic neoplasm and mast cell leukemia both involve blood cell disorders or blood cell cancer (leukemia). Mast cell leukemia is the rarest and most severe type of systemic mastocytosis.\n\nIndividuals with the milder forms of the condition generally have a normal or near normal life expectancy, while those with the more severe forms typically survive months or a few years after diagnosis.|MedlinePlus Genetics|N|
C0221014|Amyloidosis occurring secondary to another disease.|NCI|N|
C0221016|A disease or disorder that involves the erythrocyte.|MONDO|N|
C0221018|The essential features of X-linked sideroblastic anemia include the following: (1) a hypochromic microcytic anemia and 2 discrete populations of red blood cells, one microcytic and the other normocytic; (2) marrow ringed sideroblasts, particularly prominent in the late erythroid precursors; (3) a variable hematologic response to pharmacologic doses of pyridoxine; and (4) systemic iron overload secondary to chronic ineffective erythropoiesis. The age of clinical onset of the disorder can vary from in utero to the ninth decade. Whereas males are preferentially affected, females may present with clinically severe anemia. More commonly, female carriers of the disease have an increased red blood cell distribution width and sometimes erythrocyte dimorphism (Fleming, 2002).
Genetic Heterogeneity of Sideroblastic Anemia
See also SIDBA2 (205950), caused by mutation in the SLC25A38 gene (610819) on chromosome 3p22; SIDBA3 (616860), caused by mutation in the GLRX5 gene (609588) on chromosome 14q32; SIDBA4 (182170), caused by mutation in the HSPA9 gene (600548) on chromosome 5q31; and SIDBA5 (619523), caused by mutation in the HSCB gene (608142) on chromosome 22q12.|OMIM|N|
C0221019|A heterozygous state in which a person has a hemoglobin S allele along with a beta-thalassemia allele. The severity of the condition is determined to a large extent by the quantity of normal hemoglobin produced by the beta-thalassemia gene.|NCI|N|
C0221020|Hemoglobin C - beta-thalassemia (HbC - BT) is a form of beta-thalassemia (see this term) resulting in moderate hemolytic anemia.|ORDO|N|
C0221021|Acquired anemia due to destruction of red blood cells by physical trauma such as FIBRIN strands in the blood vessels, artificial heart valve, AORTIC COARCTATION. I can also be associated with hematologic diseases such as DISSEMINATED INTRAVASCULAR COAGULATION; HEMOLYTIC-UREMIC SYNDROME; and THROMBOTIC THROMBOCYTOPENIC PURPURA.|MSH|N|
C0221023|ELANE-related neutropenia includes congenital neutropenia and cyclic neutropenia, both of which are primary hematologic disorders characterized by recurrent fever, skin and oropharyngeal inflammation (i.e., mouth ulcers, gingivitis, sinusitis, and pharyngitis), and cervical adenopathy. Infectious complications are generally more severe in congenital neutropenia than in cyclic neutropenia. In congenital neutropenia, omphalitis immediately after birth may be the first sign; in untreated children diarrhea, pneumonia, and deep abscesses in the liver, lungs, and subcutaneous tissues are common in the first year of life. After 15 years with granulocyte colony-stimulating factor treatment, the risk of developing myelodysplasia (MDS) or acute myelogenous leukemia (AML) is approximately 15%-25%. Cyclic neutropenia is usually diagnosed within the first year of life based on approximately three-week intervals of fever and oral ulcerations and regular oscillations of blood cell counts. Cellulitis, especially perianal cellulitis, is common during neutropenic periods. Between neutropenic periods, affected individuals are generally healthy. Symptoms improve in adulthood. Cyclic neutropenia is not associated with risk of malignancy or conversion to leukemia.|GeneReviews|N|
C0221025|Although cutaneous hemangiomas are common benign tumors in neonates, they can be life-threatening when they are associated with thrombocytopenia, consumptive coagulopathy, microangiopathic hemolytic anemia, and rapid enlargement, a clinical presentation known as Kasabach-Merritt syndrome (KMS). Untreated, KMS has a 10 to 37% mortality rate (Szlachetka, 1998).
With giant hemangiomas in small children, thrombocytopenia and red cell changes compatible with trauma ('microangiopathic hemolytic anemia') have been observed. The mechanism of the hematologic changes is obscure. No evidence of a simple genetic basis has been discovered.
Reviews
Szlachetka (1998) reviewed the approximately 205 reported cases of KMS and discussed the pathophysiology, clinical manifestations, differential diagnosis, and treatment modalities of the disorder.|OMIM|N|
C0221026|X-linked agammaglobulinemia (XLA) is characterized by recurrent bacterial infections in affected males in the first two years of life. Recurrent otitis is the most common infection prior to diagnosis. Conjunctivitis, sinopulmonary infections, diarrhea, and skin infections are also frequently seen. Approximately 60% of individuals with XLA are recognized as having immunodeficiency when they develop a severe, life-threatening infection such as pneumonia, empyema, meningitis, sepsis, cellulitis, or septic arthritis. S pneumoniae and H influenzae are the most common organisms found prior to diagnosis and may continue to cause sinusitis and otitis after diagnosis and the initiation of gammaglobulin substitution therapy. Severe, difficult-to-treat enteroviral infections (often manifest as dermatomyositis or chronic meningoencephalitis) can be prevented by this treatment. The prognosis for individuals with XLA has improved markedly in the last 25 years as a result of earlier diagnosis, the development of preparations of gammaglobulin that allow normal concentrations of serum IgG to be achieved, and more liberal use of antibiotics.|GeneReviews|N|
C0221027|Good syndrome, also known as thymoma-immunodeficiency, is a very rare acquired immunodeficiency syndrome characterized by the association of thymoma and combined B-cell and T-cell immunodeficiency of adult onset with increased susceptibility to infections.|ORDO|N|
C0221028|A condition characterized by a decrease in the number of platelets in the blood below established reference ranges in a newborn.|NCI|N|
C0221030|any syndrome associated with increased viscosity of the blood; in syndrome of serum hyperviscosity there is spontaneous bleeding and neurologic and ocular disorders; syndromes of polycythemic hyperviscosity is marked by retarded blood flow, organ congestion, reduced capillary perfusion, and increased cardiac effort; syndromes of sclerocythemic hyperviscosity comprise those in which the deformability of erythrocytes is impaired, as in sickle cell anemia.|CSP|N|
C0221032|Berardinelli-Seip congenital lipodystrophy (BSCL) is usually diagnosed at birth or soon thereafter. Because of the absence of functional adipocytes, lipid is stored in other tissues, including muscle and liver. Affected individuals develop insulin resistance and approximately 25%-35% develop diabetes mellitus between ages 15 and 20 years. Hepatomegaly secondary to hepatic steatosis and skeletal muscle hypertrophy occur in all affected individuals. Hypertrophic cardiomyopathy is reported in 20%-25% of affected individuals and is a significant cause of morbidity from cardiac failure and early mortality.|GeneReviews|N|
C0221033|Trisomy X, also called triple X syndrome or 47,XXX, is characterized by the presence of an additional X chromosome in each of a female's cells.  Although females with this condition may be taller than average, this chromosomal change typically causes no unusual physical features.   Most females with trisomy X have normal sexual development and are able to conceive children.\n\nTrisomy X is associated with an increased risk of learning disabilities and delayed development of speech and language skills.  Delayed development of motor skills (such as sitting and walking), weak muscle tone (hypotonia), and behavioral and emotional difficulties are also possible, but these characteristics vary widely.  Seizures or kidney abnormalities occur in about 10 percent of affected females.|MedlinePlus Genetics|N|
C0221034|A allergic disease that involves the digestive tract.|MONDO|N|
C0221036|Acrodermatitis enteropathica of the zinc deficiency type (AEZ) is characterized by intermittent simultaneous occurrence of diarrhea and dermatitis with failure to thrive. Alopecia of the scalp, eyebrows, and eyelashes is a usual feature. The skin lesions are bullous. Noteworthy is the cure by diodoquin, or diiodohydroxyquinoline (Dillaha et al., 1953; Bloom and Sobel, 1955). Rodin and Goldman (1969) described autopsy findings, including pancreatic islet hyperplasia, absence of the thymus and of germinal centers, and plasmocytosis of lymph nodes and spleen.|OMIM|N|
C0221040|A severe, often fatal encephalopathy which has been attributed to accumulation in the brain of aluminum from dialysate prepared with inadequately purified water.|NCI|N|
C0221043|Liddle syndrome is an inherited form of high blood pressure (hypertension). This condition is characterized by severe hypertension that begins unusually early in life, often in childhood, although some affected individuals are not diagnosed until adulthood. Some people with Liddle syndrome have no additional signs or symptoms, especially in childhood. Over time, however, untreated hypertension can lead to heart disease or stroke, which may be fatal.\n\nIn addition to hypertension, affected individuals can have low levels of potassium in the blood (hypokalemia). Signs and symptoms of hypokalemia include muscle weakness or pain, fatigue, constipation, or heart palpitations. The shortage of potassium can also raise the pH of the blood, a condition known as metabolic alkalosis.|MedlinePlus Genetics|N|
C0221045|High-output heart failure is a heart condition that occurs when the cardiac output is higher than normal.|MONDO|N|
C0221046|An exaggerated response to carotid sinus baroreceptor stimulation resulting in syncope from transient diminished cerebral perfusion.|HPO|N|
C0221052|Chronic beryllium disease (CBD) is a granulomatous, interstitial lung disease that occurs in individuals who develop beryllium sensitization (BeS), a cell-mediated immune response to environmental and occupational beryllium exposure. BeS precedes the lung disease that may present with chronic dry cough, fatigue, weight loss, chest pain, and increasing dyspnea.|MONDO|N|
C0221054|Welander distal myopathy (WDM) is an autosomal dominant disorder characterized by adult onset of distal muscle weakness predominantly affecting the distal long extensors of the hands, with slow progression to involve all small hand muscles and the lower legs. Skeletal muscle biopsy shows myopathic changes and prominent rimmed vacuoles. Rare homozygous patients showed earlier onset, faster progression, and proximal muscle involvement. This disorder is common in Sweden and Finland (summary by Hackman et al., 2013).|OMIM|N|
C0221055|Paramyotonia congenita (PMC) is an autosomal dominant myotonic disorder characterized by cold-induced prolonged localized muscle contraction and weakness. Patients may experience episodes of generalized weakness (periodic paralysis) unassociated with cold exposure (summary by Ptacek et al., 1992).|OMIM|N|
C0221056|Dermatomyositis in an adult.|NCI|N|
C0221058|Childhood-onset of recurrent headaches with an oculomotor cranial nerve palsy. Typically, ABDUCENS NERVE; OCULOMOTOR NERVE; and TROCHLEAR NERVE are involved with DIPLOPIA and BLEPHAROPTOSIS.|MSH|N|
C0221060|The most basic description of Moebius syndrome is a congenital facial palsy with impairment of ocular abduction. The facial nerve (cranial nerve VII) and abducens nerve (CN VI) are most frequently involved, but other cranial nerves may be involved as well. Other variable features include orofacial dysmorphism and limb malformations. Mental retardation has been reported in a subset of patients. Most cases of Moebius syndrome are sporadic, but familial occurrence has been reported (Verzijl et al., 2003).
The definition of and diagnostic criteria for Moebius syndrome have been controversial and problematic. The syndrome has most frequently been confused with hereditary congenital facial paresis (HCFP; see 601471), which is restricted to involvement of the facial nerve and no other abnormalities. Verzijl et al. (2003) and Verzijl et al. (2005) concluded that HCFP and Moebius syndrome are distinct disorders, and that Moebius syndrome is a complex developmental disorder of the brainstem.
Moebius syndrome was defined at the Moebius Syndrome Foundation Research Conference in 2007 as congenital, nonprogressive facial weakness with limited abduction of one or both eyes. Additional features can include hearing loss and other cranial nerve dysfunction, as well as motor, orofacial, musculoskeletal, neurodevelopmental, and social problems (summary by Webb et al., 2012).
Kumar (1990) provided a review of Moebius syndrome, which was critiqued by Lipson et al. (1990). Briegel (2006) provided a review of Moebius sequence with special emphasis on neuropsychiatric findings.|OMIM|N|
C0221061|'Behr syndrome' is a clinical term that refers to the constellation of early-onset optic atrophy accompanied by neurologic features, including ataxia, pyramidal signs, spasticity, and mental retardation (Behr, 1909; Thomas et al., 1984).
Patients with mutations in genes other than OPA1 can present with clinical features reminiscent of Behr syndrome. Mutations in one of these genes, OPA3 (606580), result in type III 3-methylglutaconic aciduria (MGCA3; 258501). Lerman-Sagie (1995) noted that the abnormal urinary pattern in MGCA3 may not be picked up by routine organic acid analysis, suggesting that early reports of Behr syndrome with normal metabolic features may actually have been 3-methylglutaconic aciduria type III.|OMIM|N|
C0221065|A neuropathy due to VITAMIN B 12 DEFICIENCY or to excessive NITROUS OXIDE inhalation. It is associated with overproduction of the myelinolytic TUMOR NECROSIS FACTOR-ALPHA.|MSH|N|
C0221069|Ischemic injury to anterior spinal cord due to occlusion of anterior spinal artery.|SNOMEDCT_US|N|
C0221074|A type of clinical depression that occurs after childbirth.|NCI|N|
C0221082|A disease or disorder that occurs during, soon after or as a result of a surgical procedure.|NCI|N|
C0221104|An increase in the viscosity of blood resulting from an increase in the proportion of cellular elements of the blood, a change in the mechanical properties of the cellular elements of the blood, and/or an alteration in plasma viscosity.|NCI|N|
C0221106|An abnormally high blood pH (usually defined as 7.41 or above).|HPO|N|
C0221150|Pain experienced with swallowing.|HPO|N|
C0221151|Vomiting that ejects the gastric contents with great force.|HPO|N|
C0221152|Obstipation is the inability to pass either stool or flatus (gas).|HPO|N|
C0221154|Hypertension that presents intermittently.|NCI|N|
C0221155|Abnormally high systolic blood pressure.|NCI|N|
C0221158|Multifocal atrial tachycardia is a rare supraventricular arrhythmia in neonates and young infants that is characterized by multiple P waves with varying P wave morphology and is usually asymptomatic.|HPO|N|
C0221163|Motor skills deficits that significantly and persistently interfere with ACTIVITIES OF DAILY LIVING appropriate to chronological age. (from DSM-5)|MSH|N|
C0221165|Paralysis affecting corresponding parts on both sides of the body.|NCI|N|
C0221166|Weakness or partial paralysis in the lower limbs.|HPO|N|
C0221168|Gout affecting the Metatarsophalangeal joint of big toe.|HPO|N|
C0221169|Hemiballismus is a rare movement disorder that is caused primarily by damage to various areas in the basal ganglia. Hemiballismus is usually characterized by involuntary flinging motions of the extremities. The movements are often violent and have wide amplitudes of motion. They are continuous and random and can involve proximal and/or distal muscles on one side of the body, while some cases even include the facial muscles. The more a patient is active, the more the movements increase. With relaxation comes a decrease in movements.|HPO|N|
C0221170|A condition in which muscles cannot be moved quickly without accompanying pain or spasm.|HPO|N|
C0221182|Ventral, lateral, or ventrolateral bowing of the shaft and glans penis of more than 30 degrees.|HPO|N|
C0221189|An excessive frequency of jumping in place.|HPO|N|
C0221198|A localized pathological or traumatic structural change, damage, deformity, or discontinuity of tissue, organ, or body part.|NCI|N|
C0221199|An abnormality of the creases of the skin of palm of hand.|HPO|N|
C0221201|An outbreak of small, flat, red spots on the skin.|NCI|N|
C0221207|Urticaria may be caused by cold temperatures.|HPO|N|
C0221209|A developmental defect in which a kidney is located in an abnormal anatomic position within the pelvis.|HPO|N|
C0221210|An abnormality of the intestinal rotation and fixation that normally occurs during the development of the gut. This can lead to volvulus, or twisting of the intestine that causes obstruction and necrosis.|HPO|N|
C0221214|A developmental defect of the aortic arch system in which the trachea and esophagus are completely encircled by connected segments of the aortic arch and its branches. This occurs if the normal process of regression and persistence of the bilateral embryonic aortic arches fails.|HPO|N|
C0221215|A congenital heart defect characterized by a specific combination of heart defects with a common atrioventricular valve, primum atrial septal defect and inlet ventricular septal defect.|HPO|N|
C0221217|Pterygium colli is a congenital skin fold that runs along the sides of the neck down to the shoulders. It involves an ectopic fibrotic facial band superficial to the trapezius muscle. Excess hair-bearing skin is also present and extends down the cervical region well beyond the normal hairline.|HPO|N|
C0221226|Distended and engorged umbilical veins which are seen radiating from the umbilicus across the abdomen to join systemic veins.|HPO|N|
C0221227|A type of emphysema characterized by destroyed centrilobular alveolar walls and enlargement of respiratory bronchioles and associated alveoli. This is the commonest form of emphysema in cigarette smokers. CT findings are centrilobular areas of decreased attenuation, usually without visible walls, of nonuniform distribution and predominantly located in upper lung zones.|HPO|N|
C0221228|A clogged cutaneous sebaceous follicle, which is a cutaneous gland that secretes sebum (usually into a hair follicle).|HPO|N|
C0221232|A smooth, slightly elevated area on the body surface, which is redder or paler than the surrounding skin. It is the typical lesion of urticaria, the dermal evidence of allergy, and in sensitive persons may be provoked by mechanical irritation of the skin.|NCI|N|
C0221237|A type of inflammation of the lips involving one or both of the corners of the mouth.|HPO|N|
C0221238|A focal inflammation of glomeruli secondary to mesangial cell proliferation and matrix deposition within the mesangium.|NCI|N|
C0221239|Inflammation of the glomeruli that is characterized by a rapid loss in renal function with glomerular crescent formation observed on biopsy; it is often seen in patients with concomitant autoimmune disease, like Goodpasture''s syndrome or systemic lupus erythematosus.|NCI|N|
C0221242|Fixed drug eruption is a rare toxic dermatosis disorder characterized by the appearance of a drug-induced rash which typically manifests with small (diameter less than 8 cm), erythematous, round, sometimes painful, plaques that result in long-lasting pigmentation and which recurr (usually at the same site) upon reexposure to the causative medication.|ORDO|N|
C0221243|Acral or periorificial lesions that evolve in recurrent crops, with an annular and migratory distribution.|HPO|N|
C0221244|Excessive shedding of dry scaly material from the scalp in humans.|MSH|N|
C0221245|A clearly-defined and roughly linear cleavage in the skin that usually extends to the dermis.|HPO|N|
C0221248|Intradermal urate crystal deposits appeared as small, superficial, pustule-like, whitish lesions. The lesions may be the focus of inflammatory episodes with increasing pain, swelling, and erythema of the intradermal tophi.|HPO|N|
C0221252|Eruptive xanthomas are yellow-orange-to-red-brown papules that are often surrounded by an erythematous halo. They appear in crops on the buttocks, extensor surfaces of the extremities, and flexural creases. Acutely, variable amounts of pruritus and pain occur.|HPO|N|
C0221253|The presence of xanthomas (intra-and extra-cellular accumulations of cholesterol) extensor tendons (typically over knuckles, Achilles tendon, knee, and elbows).|HPO|N|
C0221259|Inversion and rubbing of the eyelashes against the globe of the eye.|HPO|N|
C0221260|Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate.|HPO|N|
C0221261|The natural longitudinal (posterodistal) convex arch is not present or is inverted.|HPO|N|
C0221262|Circumscribed depigmentation of the hair of the head or the eyelashes.|HPO|N|
C0221263|Cafe-au-lait spots are hyperpigmented lesions that can vary in color from light brown to dark brown with smooth borders and having a size of 1.5 cm or more in adults and 0.5 cm or more in children.|HPO|N|
C0221269|A neoplastic process that resembles a malignant lymphoma, but has a benign course.|NCI|N|
C0221270|Diffuse hypertrophy or thickening of the stratum spinosum of the epidermis (prickle cell layer of the skin).|HPO|N|
C0221271|A rare acquired dermis elastic tissue disorder with increased elastic tissue characterized by focal dermal elastosis and transepidermal elimination of abnormal elastic fibers, presenting as small keratotic papules or plaques arranged in groups in serpiginous or annular patterns on the neck, face, and arms, while other areas are less frequently affected. Although spontaneous regression is possible, the lesions often persist over longer periods of time. The condition typically occurs during childhood or early adulthood and is more frequent in men than in women.|ORDO|N|
C0221273|A non-neoplastic hamartomatous polyp that arises from the stomach and intestinal tract. It is characterized by the presence of tortuous and cystically dilated glands, edematous changes, and inflammation.|NCI|N|
C0221277|An abnormality of lymphocytes.|HPO|N|
C0221278|Abnormally increased variability in the size of erythrocytes.|HPO|N|
C0221281|The presence of abnormally shaped erythrocytes.|HPO|N|
C0221284|Target cells (codocytes) have a centrally located disk of hemoglobin surrounded by an area of pallor with an outer rim of hemoglobin adjacent to the cell membrane giving the cell the appearance of a target.|HPO|N|
C0221285|Increased amount of stacking of erythrocytes into long chains. Rouleaux (singular|HPO|N|
C0221286|A rare, slow-growing, usually non-invasive intraepithelial adenocarcinoma affecting the penile skin or mucosal surface. The malignant cells are large with abundant pale cytoplasm and vesicular nuclei with prominent nucleoli. (WHO 2016)|NCI|N|
C0221287|A rare hepatic tumor characterized by the presence of both hepatocytic and cholangiocytic differentiation within a primary liver carcinoma. The lesion commonly arises in the context of chronic liver disease (such as hepatitis B or C, or steatohepatitis) or exposure to a variety of exogenous agents. Patients may present with signs and symptoms related to the tumor, as well as to the underlying condition. Typical manifestations include right upper quadrant abdominal pain, weight loss, hepatosplenomegaly, jaundice, and ascites. The entity has been associated with a worse prognosis than hepatocellular carcinoma after resection.|ORDO|N|
C0221289|A benign neoplasm arising from the synovial membrane. Examples include the diffuse giant cell tumor of tendon sheath and localized giant cell tumor of tendon sheath.|NCI|N|
C0221290|A rare bone tumor characterized by a benign lesion composed of lobules of spindle shaped or stellate cells and an abundant myxoid or chondroid matrix. The tumor may occur in almost any osseous location but is most common in long bones, in particular the proximal tibia and the distal femur. Pain is the most common presenting symptom. Prognosis is excellent even in cases with local recurrence.|ORDO|N|
C0221333|An abnormally low level of uric acid in the blood.|HPO|N|
C0221345|A change in the color of the nail.|NCI|N|
C0221347|Bluish discoloration of the skin of the hands or feet.|HPO|N|
C0221348|Yellow nail syndrome (YNS) is classically considered to comprise a clinical triad of yellow nails, lymphedema, and respiratory tract involvement. Two of these symptoms are required for the diagnosis, since the complete triad is only observed in about one-third of patients. Onset is usually after puberty (Hoque et al., 2007).|OMIM|N|
C0221352|Webbing or fusion of the fingers, involving soft parts only or including bone structure. Bony fusions are referred to as "bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers in a proximo-distal axis are referred to as "Symphalangism".|HPO|N|
C0221353|A connection of the right and left kidney by an isthmus of functioning renal parenchyma or fibrous tissue that crosses the midline.|HPO|N|
C0221354|Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.|HPO|N|
C0221355|Diffuse enlargement of the entire cerebral hemispheres leading to macrocephaly (with or without overlying cortical dysplasia).|HPO|N|
C0221356|An abnormality of skull shape characterized by a decreased anterior-posterior diameter. That is, a cephalic index greater than 81%. Alternatively, an apparently shortened anteroposterior dimension (length) of the head compared to width.|HPO|N|
C0221357|Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here.|HPO|N|
C0221358|An abnormality of skull shape characterized by a increased anterior-posterior diameter, i.e., an increased antero-posterior dimension of the skull. Cephalic index less than 76%. Alternatively, an apparently increased antero-posterior length of the head compared to width. Often due to premature closure of the sagittal suture.|HPO|N|
C0221360|Congenital lack, i.e., aplasia of the diaphragm.|HPO|N|
C0221363|Visually assessable vertical indentation, cleft, or depression of the nasal bridge, ridge and tip.|HPO|N|
C0221365|A developmental anomaly characterized by the presence of two, instead of one, ureter connecting a kidney to the bladder.|HPO|N|
C0221376|Hydrosalpinx is a distension or dilatation of the fallopian tube in the presence of a distal tubal occlusion.|HPO|N|
C0221390|Formation of a non-infectious thrombus, referred to as vegetation, on previously undamaged endocardium. It usually occurs as a complication of connective-tissue diseases and cancers because of the associated hypercoagulable state (see thrombophilia).|MONDO|N|
C0221392|Inflammation of the vagina due to thinning of the vaginal wall and decreased lubrication associated with reduced estrogen levels at MENOPAUSE.|MSH|N|
C0221406|AIP familial isolated pituitary adenoma (AIP-FIPA) is defined as the presence of an AIP germline pathogenic variant in an individual with a pituitary adenoma (regardless of family history). The most commonly occurring pituitary adenomas in this disorder are growth hormone-secreting adenomas (somatotropinoma), followed by prolactin-secreting adenomas (prolactinoma), growth hormone and prolactin co-secreting adenomas (somatomammotropinoma), and nonfunctioning pituitary adenomas (NFPA). Rarely TSH-secreting adenomas (thyrotropinomas) are observed. Clinical findings result from excess hormone secretion, lack of hormone secretion, and/or mass effects (e.g., headaches, visual field loss). Within the same family, pituitary adenomas can be of the same or different type. Age of onset in AIP-FIPA is usually in the second or third decade.|GeneReviews|N|
C0221423|A state of ill health, bodily malfunction, or discomfort.|NCI|N|
C0221470|The inability or refusal to swallow.|NCI|N|
C0221505|A localized pathological or traumatic structural change, damage, deformity, or discontinuity of the brain.|NCI|N|
C0221511|Neurotic disorder developed as a consequence of occupational stress, inappropriate occupational choice, overwork, job dissatisfaction, or other job-related stress.|PSY|N|
C0221512|A painful sensation in the stomach.|NCI|N|
C0221513|Personality marked by self-destructiveness or self-defeating behavior, a conscious or unconscious need to suffer, and seeking out opportunities for suffering or self-injury.|PSY|N|
C0221521|Social, psychological, or emotional difficulties in adapting to a new culture or similar difficulties in adapting to one''s own culture as the result of rapid social or cultural changes.|PSY|N|
C0221543|Intracranial fluid volumes are compromised|CCC|N|
C0221550|Impaired interactions and patterns of relating amongst members of the community.|SNOMEDCT_US|N|
C0221557|Disintegration of the physiological and neurobehavioral systems of functioning.|NANDA-I|N|
C0221560|Irreversible, progressive, insidious, and long-term alteration of intellect, behavior and personality, manifested by impairment in cognitive functions (memory, speech, language, decision making, and executive function), and dependency in execution of daily activities|NANDA-I|N|
C0221629|A lack of strength of the proximal muscles.|HPO|N|
C0221690|Syndesmophytes: osseous excrescences or bony outgrowths from the spinal ligaments as they attach to adjacent vertebral bodies. In psoriasis and in Reiter''s syndrome, they often are massive and bridge adjacent vertebrae asymmetrically. In these diseases they appear to arise from a broad zone on the vertebrae, and tend to spare the anterior surfaces of the vertebrae (non-marginal syndesmophytes). In ankylosing spondylitis, however, the syndesmophytes (marginal) tend to be thinner, more vertical, and symmetrical, involving anterior as well as the lateral vertebral body margins. The disc space is often narrowed, and vertebral bodies may show anterior end plate erosions and appear to lose the normal anterior concavity (squaring).|AIR|N|
C0221725|Blockage of a bronchus passage most often by bronchial secretions and exudates.|NCI|N|
C0221727|Painful sensation in the esophageal region.|NCI|N|
C0221755|An indication that auscultation of the major arteries of the abdomen demonstrates the presence of turbulent vascular sounds.|NCI|N|
C0221757|Alpha-1 antitrypsin deficiency (AATD) can present with hepatic dysfunction in individuals from infancy to adulthood and with chronic obstructive lung disease (emphysema and/or bronchiectasis), characteristically in individuals older than age 30 years. Individuals with AATD are also at increased risk for panniculitis (migratory, inflammatory, tender skin nodules which may ulcerate on legs and lower abdomen) and C-ANCA-positive vasculitis (granulomatosis with polyangiitis). Phenotypic expression varies within and between families. In adults, smoking is the major factor in accelerating the development of COPD; nonsmokers may have a normal life span, but can also develop lung and/or liver disease. Although reported, emphysema in children with AATD is extremely rare. AATD-associated liver disease, which is present in only a small portion of affected children, manifests as neonatal cholestasis. The incidence of liver disease increases with age. Liver disease in adults (manifesting as cirrhosis and fibrosis) may occur in the absence of a history of neonatal or childhood liver disease. The risk for hepatocellular carcinoma (HCC) is increased in individuals with AATD.|GeneReviews|N|
C0221759|An inflammatory process affecting the brachial plexus. It results in severe pain in the upper extremity and shoulder, upper arm weakness and loss of sensation in the upper arm.|NCI|N|
C0221763|Recurrent infections of the urinary bladder.|NCI|N|
C0221766|A separation of the rectus abdominis muscle into right and left halves (which are normally joined at the midline at the linea alba).|HPO|N|
C0221775|A vertebral column disorder caused by degeneration of intervertebral disks of the lumbar spine. One of the most common musculoskeletal disorders, it has strong genetic determinants.|MONDO|N|
C0221776|Painful sensation in the mouth, tongue, or lips.|NCI|N|
C0221777|Sporadic enlargement of the thyroid gland that is not associated with changes in thyroid function or malignancy.|NCI|N|
C0221782|A swelling or enlargment localized to the uterus. The word mass is usually used at an early stage of the diagnostic workup before the precise nature of the swelling has been determined.|HPO|N|
C0221783|A swelling or enlargment localized to the vagina. The word mass is usually used at an early stage of the diagnostic workup before the precise nature of the swelling has been determined.|HPO|N|
C0221785|An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the wrist.|HPO|N|
C0222706|The presence of symmetrical and circular openings (foramina) in the parietal bone ranging in size from a few millimeters to several centimeters wide.|HPO|N|
C0223567|A congenital anomaly of the spine, where an extra or supernumerary lumbar vertebra arises from below the 5th lumbar vertebra.|NCI|N|
C0225599|Aberrant or accessory bronchus supplying the upper lobe originating from the lateral wall of the trachea. The tracheal bronchus is more commonly right-sided, has a variable length and may be blind-ended. Two common types of tracheal bronchus are|HPO|N|
C0226335|The renal arteries carry blood from the aorta to the kidney; normally one renal artery is present on each side of the body. Renal artery duplication refers to the presence of two rather than one renal artery on a given side of the body.|HPO|N|
C0227791|Normal or abnormal secretions from the vagina. Mucus produced by the cervical glands is discharged from the vagina naturally, especially during the childbearing years. Causes of abnormal vaginal discharge include infectious agents (e.g., Neisseria gonorrhea, Chlamydia trachomatis, Trichomonas, and Candida albicans), the presence of foreign bodies, and cervical or vaginal cancer.|MONDO|N|
C0228130|Arachnoid granulations (AGs) are tufts of arachnoid membrane invaginated into the dural sinuses through which cerebrospinal fluid (CSF) enters the venous system. The lesions are primarily located in the parasagittal region along the superior sagittal sinus, which is occasionally seen at the transverse sinus. Normally dural venous sinus AGs typically range from 2 to 8 mm in size, but may grow enough to expand the dural sinuses, and even the inner table, diploic space and outer table of the skull.|HPO|N|
C0229197|A wrinkle of retinal tissue projecting outward from the surface of the retina and visible as a line on fundoscopy.|HPO|N|
C0231170|Any physical or mental impairment that interferes with an individual''s ability to perform desired activities.|NCI|N|
C0231187|The inability of an organ or organ system to maintain homeostasis due to functional overload, often caused by the presence of disease intrinsic to the organ or organ system, or dysfunction in other organ systems.|NCI|N|
C0231218|A feeling of general discomfort, weakness, or lack of health.|HPO|N|
C0231221|Without clinical signs or indications that raise the possibility of a particular disorder or dysfunction.|NCI|N|
C0231225|An event in which the patient reports pain that is severe, uncontrolled, and causing distress for the patient, family members, or both.|NCI|N|
C0231230|Functions related to susceptibility to fatigue, at any level of exertion.|ICF-CY|N|
C0231246|Slower than normal rate of weight increase.|NCI|N|
C0231254|Abnormally increased weight-to-height squared ratio, calculated by dividing the individual's weight in kilograms by the square of the individual's height in meters and used as an indicator of overweight compared to averages.|HPO|N|
C0231255|Abnormally decreased weight-to-height squared ratio, calculated by dividing the individual's weight in kilograms by the square of the individual's height in meters and used as an indicator of underweight compared to averages.|HPO|N|
C0231274|The inability to maintain a comfortable body temperature in warm or hot weather.|HPO|N|
C0231287|the condition of a patient in the period following a surgical operation.|CSP|N|
C0231311|A subtype of circadian rhythm sleep disorder in which the individual exhibits an endogenous pattern of sleep and wakefulness that comes into conflict with the pattern of sleep and wakefulness required by a new time zone.|NCI|N|
C0231341|Changes in the organism associated with senescence, occurring at an accelerated rate.|MONDO|N|
C0231347|Potential for patient to not follow discharge instructions or medical orders (e.g., activity, medications, nutrition, wound care, follow up visits, lifestyle modifications) due to barriers (e.g. SDOH) or philosophical, cultural, and spiritual values, beliefs, and preferences.|PNDS|N|
C0231353|Less than adequate intake or absorption of food or nutrients|CCC|N|
C0231357|Increased chance of skin breakdown|CCC|N|
C0231365|Change in or modification of excretion of the waste matter of the kidneys|CCC|N|
C0231367|Incapacity to carry out physiological or psychological daily activities|CCC|N|
C0231369|Impaired ability to maintain oneself|CCC|N|
C0231370|Impaired ability to cleanse oneself|CCC|N|
C0231382|Periods of suspended motor and sensory activity and periods of inactivity, repose, or mental calm.|OMS|N|
C0231394|Demonstrates a pattern of uncertainty to select the most appropriate course of action that aligns with health-related goals and values.|PNDS|N|
C0231397|A state characterized by future-oriented worry, accompanied by negative affect and autonomic arousal.|HPO|N|
C0231408|Imbalance in the ability to distinguish between the self and the non-self|CCC|N|
C0231410|Change in or modification of carrying out responsibilities|CCC|N|
C0231414|Change in or modification of usual functioning of a related group|CCC|N|
C0231416|Susceptible to primary caregiver difficulty in creating, maintaining or regaining an environment that promotes the optimum growth and development of the child, which may compromise the well-being of the child.|NANDA-I|N|
C0231417|Change in or modification of nurturing figures ability to promote growth and development of infant/child|CCC|N|
C0231418|A pattern of behavior in any relationship that is used to gain or maintain power and control over an intimate partner or other household members. Abuse is physical, sexual, emotional, economic or psychological actions or threats of actions that influence another person.|SNOMEDCT_US|N|
C0231441|A response indicating that an individual is not mobile.|NCI|N|
C0231451|A finding indicating that joints, muscles, and/or tendons can extend beyond their normal limit.|NCI|N|
C0231454|Flexion of a limb or part beyond its normal range.|NCI|N|
C0231471|Involuntary flexion or extension of the arms and legs.|HPO|N|
C0231474|A posture characterized body rigidity and by extension of the neck, arms, and legs. It may indicate brain stem damage and may suggest herniation of the brain.|NCI|N|
C0231475|A posture characterized by body rigidity, flexion of the arms over the chest, clenched fists, and extension of the legs. It may indicate cerebral damage.|NCI|N|
C0231521|A type of rigidity in which the arms are in flexion and adduction and the legs are extended. This signifies a lesion in the cerebral white matter, internal capsules, or thalamus.|HPO|N|
C0231528|Pain in muscle.|HPO|N|
C0231529|An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to a tendon.|HPO|N|
C0231530|The occurrence of a single contraction or a series of contractions of a muscle.|NCI|N|
C0231531|Fine, rapid twitching of individual muscle fibers with little or no movement of the muscle as a whole. If a motor neuron or its axon is destroyed, the muscle fibers it innervates undergo denervation atrophy. This leads to hypersensitivity of individual muscle fibers to acetyl choline so that they may contract spontaneously. Isolated activity of individual muscle fibers is generally so fine it cannot be seen through the intact skin, although it can be recorded as a short-duration spike in the EMG.|HPO|N|
C0231592|A popping, clicking or crackling sound that accompaniees movement of a joint.|HPO|N|
C0231616|Weakness of the inferior portion of the rectus abdominal muscle, which is ascertained clinically as follows. When a patient sits up or raises the head from a recumbent position, the umbilicus is displaced toward the head. This is the result of paralysis of the inferior portion of the rectus abdominal muscle, so that the upper fibers predominate pulling upwards the umbilicus.|HPO|N|
C0231617|A sudden pain, usually sharp, occurring during movement, or exacerbated by movement, and prompting cessation of movement|SNOMEDCT_US|N|
C0231666|A condition in which the affected individual cannot extend the wrist, which hangs flaccidly.|HPO|N|
C0231679|Bending or curvature of a finger toward the ulnar side (i.e., away from the thumb). The deviation is at the metacarpal-phalangeal joint, and this finding is distinct from clinodactyly.|HPO|N|
C0231685|To avoid pain weight is put on the affected leg for as short a time as possible, resulting in a limp. The patients appear to be walking as if there were a thorn in the sole of the foot. To reduce the load on the affected leg the patients lift and lower their foot in a fixed ankle position.|HPO|N|
C0231686|A shaky or wobbly manner of walking.|NCI|N|
C0231687|Spasticity is manifested by increased stretch reflex which is intensified with movement velocity. This results in excessive and inappropriate muscle activation which can contribute to muscle hypertonia. Spastic gait is characterized by manifestations such as muscle hypertonia, stiff knee, and circumduction of the leg.|HPO|N|
C0231688|A type of gait (walking) characterized by by dragging one's feet along or without lifting the feet fully from the ground.|HPO|N|
C0231690|Nodding movement of the head or body.|HPO|N|
C0231698|A type of spastic paraparetic gait in which the muscle tone in the adductors is marked. It is characterized by hypertonia and flexion in the legs, hips and pelvis accompanied by extreme adduction leading to the knees and thighs hitting, or sometimes even crossing, in a scissors-like movement. The opposing muscles (abductors) become comparatively weak from lack of use.|HPO|N|
C0231710|An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the buttock (round fleshy area at the lower rear area of a human trunk).|HPO|N|
C0231712|Weakness of the hip girdle and upper thigh muscles, for instance in myopathies, leads to an instability of the pelvis on standing and walking. If the muscles extending the hip joint are affected, the posture in that joint becomes flexed and lumbar lordosis increases. The patients usually have difficulties standing up from a sitting position. Due to weakness in the gluteus medius muscle, the hip on the side of the swinging leg drops with each step (referred to as Trendelenburg sign). The gait appears waddling. The patients frequently attempt to counteract the dropping of the hip on the swinging side by bending the trunk towards the side which is in the stance phase (in the German language literature this is referred to as Duchenne sign). Similar gait patterns can be caused by orthopedic conditions when the origin and the insertion site of the gluteus medius muscle are closer to each other than normal, for instance due to a posttraumatic elevation of the trochanter or pseudarthrosis of the femoral neck.|HPO|N|
C0231749|An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the knee.|HPO|N|
C0231765|Wilson sign is defined as the elicitation of pain by internally rotating the patient's tibia during knee extension between 90 degrees and 30 degrees of flexion and then relieving that pain by externally rotating the tibia.|HPO|N|
C0231807|Perceived difficulty to breathe that occurs with exercise or exertion and improves with rest.|HPO|N|
C0231819|Air trapping is retention of air in the lung distal to an obstruction (usually partial). Air trapping is seen on end-expiration CT scans as parenchymal areas with less than normal increase in attenuation and lack of volume reduction. Comparison between inspiratory and expiratory CT scans can be helpful when air trapping is subtle or diffuse.|HPO|N|
C0231835|Very rapid breathing.|HPO|N|
C0231837|Bradypnea is referring to breathing that is abnormally slow.|HPO|N|
C0231852|Breathing movements in which the chest wall moves in on inspiration and out on expiration, in reverse of the normal movements. It may be seen in children with respiratory distress of any cause, which leads to indrawing of the intercostal spaces during inspiration. Patients with chronic airways obstruction also show indrawing of the lower ribs during inspiration, due to the distorted action of a depressed and flattened diaphragm. Crush injuries of the chest, with fractured ribs and sternum, can lead to a severe degree of paradoxical breathing.|HPO|N|
C0231856|An anomalous (adventitious) sound produced by the breathing process.|HPO|N|
C0231873|Bronchial breath sounds contain much higher frequency components than normal breath sounds due to alteration of the low pass filtering function of the alveoli, as occurs in consolidation. It is loud, hollow, and high pitch. Expiratory phase is longer than inspiratory phase with the inspiratory-expiratory ratio (I:E) changing from normal 3:1 to 1:2. There is distinct pause between inspiration and expiration due to absent alveolar phase. It is associated with whispering pectoriloquy.|HPO|N|
C0231890|Vibration felt on the chest wall, either by examiner or subjective|SNOMEDCT_US|N|
C0231919|A lack of humidification of the nasal mucosa.|HPO|N|
C0231957|The maximum volume of air that can be exhaled after slow maximum inhalation.|NCI|N|
C0232100|Extensive loss of blood due to internal or external hemorrhage.|NCI|N|
C0232107|A finding of decreased blood pressure; not necessarily hypotensive disorder|SNOMEDCT_US|N|
C0232118|Pulsus paradoxus refers to a systolic pressure drop greater than 10mmHg during inspiration.|HPO|N|
C0232123|A clinical finding in which palpation of the pulse demonstrates a significantly increased upstroke, amplitude, and rapid decay. (ACC-AHA)|NCI|N|
C0232132|A diminution in the amplitude (strength) of the pulse such that the examiner has difficulty feeling the pulse.|HPO|N|
C0232180|Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system.|HPO|N|
C0232200|In the normal heart cycle, two heart sounds can be heard by auscultation per cycle|HPO|N|
C0232201|An electrocardiographic finding of an atrial rhythm which originates from the sinoatrial node that is considered normal for the population. (CDISC)|NCI|N|
C0232202|An electrocardiographic finding of an atrial rhythm which originates from the sinoatrial node that is considered normal for the population. There are no extra beats or conduction abnormalities. (CDISC)|NCI|N|
C0232208|An electrocardiographic finding of a rhythm which originates in the AV junction and results in a normal heart rate. It is characterized by retrograde P waves which may be obscured by or may follow the QRS complexes. The QRS complexes may be narrow or may demonstrate aberration. (CDISC)|NCI|N|
C0232210|An electrocardiographic finding of a junctional rhythm that arises as a physiologic response to extreme slowing or arrest of sinus node activity. In this setting, a faster junctional rhythm may be a normal response to a very slow or absent sinus rate. (CDISC)|NCI|N|
C0232214|An electrocardiographic finding of a compensatory ventricular complex that occurs following a prolonged RR interval. (CDISC)|NCI|N|
C0232216|A ventricular escape rhythm occurs whenever higher-lever pacemakers in AV junction or sinus node fail to control ventricular activation. Escape rate is usually 20-40 bpm, often associated with broad QRS complexes (at least 120 ms).|HPO|N|
C0232225|An auscultated finding in which the components of the first heart sound are not normal. (ACC-AHA)|NCI|N|
C0232232|An auscultated finding in which the semilunar valve closure sounds are not normal. (ACC-AHA)|NCI|N|
C0232235|Lack of variation in the splitting between the two components of the second heart sound with respiration. Normally, the aortic valve closure (A2) is followed by the pulmonic valve closure (P2) but the A2-P2 interval increases with inspiration and decreases with expiration.|HPO|N|
C0232236|Normally, the aortic valve closure (A2) is followed by the pulmonic valve closure (P2) but the A2-P2 interval increases with inspiration and decreases with expiration. With paradoxical splitting, there is a delay in the closure of the aortic valve, so that A2 can follow P2; the individual components can be appreciated at the end of expiration and the interval narrows with inspiration (which is the oposite of the normal pattern).|HPO|N|
C0232237|The third heart sound (S3) is related to rapid filling in diastole. S3 can be a normal finding in children and adolescents but suggests heart failure in older patients.|HPO|N|
C0232239|Any abnormality of the third heart sound|SNOMEDCT_US|N|
C0232242|Any abnormality of the fourth heart sound|SNOMEDCT_US|N|
C0232255|A clinical finding in which turbulent flow is noted by auscultation that is not associated with any structural cardiac defects. (ACC-AHA)|NCI|N|
C0232257|A heart murmur limited to systole, i.e., between the first and second heart sounds S1 and S2.|HPO|N|
C0232258|A heart murmur that occurs during the entire systolic phase from S1 to S2.|HPO|N|
C0232259|A systolic murmur that begins after S1 and ends before S2, typically with a crescendo-decrescendo pattern.|HPO|N|
C0232261|A murmur that occurs in the latter phase of systole.|HPO|N|
C0232262|A heart murmur that occurs during diastole, i.e., in the time between S2 and the subsequent S1.|HPO|N|
C0232264|A murmur that occurs in the middle of the diastolic phase.|HPO|N|
C0232265|A heart murmur that occurs during the early portion of the ventricular ejection phase.|NCI|N|
C0232266|A murmur that occurs in both systole and diastole.|HPO|N|
C0232267|A pericardial friction rub is a grating, to-and-fro sound that occurs in phase with the heart sounds.|HPO|N|
C0232269|A clinical finding in which humming vibration; accompanying a loud, harsh or rumbling murmur felt during palpation of the precordium or over the blood vessels. (ACC-AHA)|NCI|N|
C0232274|An auscultated finding describing an early diastolic banging sound associated with pericardial constriction. (ACC-AHA)|NCI|N|
C0232275|An auscultated finding describing a crisp, sharp sound that can be heard in the midprecordial location, caused by thickening and deformity of the atrioventricular valve. (ACC-AHA)|NCI|N|
C0232278|A galloping sound on cardiac auscultation because of an abnormally audible third heart sound.|SNOMEDCT_US|N|
C0232283|Cardiac murmur with no significant crescendo or decrescendo|SNOMEDCT_US|N|
C0232285|The sensation of chest pain described as a mild or blunted discomfort.|NCI|N|
C0232286|A type of chest pain that arises in the or under the left breast and often described as throbbing, stabbing, or burning, and lasting hours or longer. The pain may arise with or after effort, and may spread to the left arm or left side of the neck.|HPO|N|
C0232292|An unpleasant sensation of tightness or pressure in the chest.|HPO|N|
C0232296|A kind of abnormal ventricular axis in the EKG whereby the QRS axis falls between +90 degrees and 180 degrees, or beyond +100 degrees if the adult range is used.|HPO|N|
C0232297|A kind of abnormal ventricular axis in the EKG whereby the QRS axis falls between -30 degrees and -90 degrees.|HPO|N|
C0232305|An electrocardiographic finding suggestive of a hypertrophied right ventricle, characterized by large R wave amplitudes in the right precordial leads and secondary findings of right atrial enlargement, right axis deviation, and typical pattern of ST depression and T wave inversion in the right precordial leads. (CDISC)|NCI|N|
C0232306|An electrocardiographic finding suggestive of a hypertrophied left ventricle, characterized by large QRS amplitudes and secondary findings of left atrial enlargement, left axis deviation, or typical pattern of ST depression and T wave inversion. (CDISC)|NCI|N|
C0232308|The presence of tall, peaked P waves in EKG lead II.|HPO|N|
C0232310|A broad (120 ms or longer in duration) and bifid P-wave in EKG lead II.|HPO|N|
C0232333|An electrocardiographic finding of a small hump following the T wave occurring during the final phase of Purkinje repolarization.|NCI|N|
C0232347|Markedly reduced or absent REPERFUSION in an infarct zone following the removal of an obstruction or constriction of an artery.|MSH|N|
C0232357|A clinical finding in which a capillary nail refill test returns to pink color in less than 2 seconds after pressure is removed.|NCI|N|
C0232459|Change in or modification of the stomach or intestines|CCC|N|
C0232462|A reduced desire to eat.|HPO|N|
C0232466|Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.|HPO|N|
C0232474|Excessively active peristalsis (wave of contraction of the tubular organs of the gastrointestinal tract) marked by excessive rapidity of the passage of food through the stomach and intestine.|HPO|N|
C0232475|Reduced or inadequate peristalsis, with resultant slow passage of contents through the digestive tract.|HPO|N|
C0232480|The practice of eating earth or soil-like substrates such as clay or chalk.|HPO|N|
C0232483|An abnormal backward flow of a body fluid.|NCI|N|
C0232488|A type of abdominal pain that comes and goes in waves, most often starting and ending suddenly and being of severe intensity.|HPO|N|
C0232493|Pain that is localized to the region of the upper abdomen immediately below the ribs.|HPO|N|
C0232495|A sensation of discomfort emanating from the inferior quadrants of the abdomen, which may be peritoneal or visceral in origin, or referred from an extra-abdominal location.|NCI|N|
C0232513|Exfoliation of a tooth more than 2 SD earlier than the normal age for the deciduous teeth and not related to traume or neglect. Exfoliation of a permanent tooth is per se abnormal.|HPO|N|
C0232599|Vomiting whereby the vomit has the color of bile, yellowish-green.|HPO|N|
C0232602|Involuntary spasms of the stomach and esophagus resulting in vomiting or dry heaving.|NCI|N|
C0232608|Regurgitation of milk through the nose.|HPO|N|
C0232694|Abnormally increased gurgling/rumbling sounds made by the movement of fluid and gas in the intestines.|HPO|N|
C0232695|An decreased amount of bowel sounds.|HPO|N|
C0232726|A repeated, painful urge to defecate without excreting stool.|HPO|N|
C0232744|Reduced ability of the liver to perform its functions.|HPO|N|
C0232766|A clinical sign indicating a lapse of posture and is usually manifest by a bilateral flapping tremor at the wrist, metacarpophalangeal, and hip joints.|HPO|N|
C0232831|An abnormally low urinary specific gravity, i.e., reduced concentration of solutes in the urine.|HPO|N|
C0232849|An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the urinary bladder. Bladder pain may be more pronounced with a full bladder and relieved upon urination, but this is not always the case.|HPO|N|
C0232910|The result of processes that negatively affect a developing fetus.|NCI|N|
C0232937|The absence of a menstrual period based on the expected start date of the menstrual cycle.|NCI|N|
C0232939|Abnormally late or absent menarche in a female with normal secondary sexual characteristics.|NCI|N|
C0232940|The cessation of menstruation for six months or more in a female that is not pregnant, breastfeeding or menopausal.|NCI|N|
C0232943|Prolonged/excessive menses and bleeding at irregular intervals.|HPO|N|
C0232970|After menopause.|NCI|N|
C0232981|Azoospermia, a condition in which there are no sperm present in the ejaculate, has historically been divided into 2 broad categories, obstructive (e.g., 277180) and nonobstructive. Among the genetically based, inherited nonobstructive causes are defects of spermatogenesis, which may interrupt the development of the sperm at various stages, either before (e.g., 415000) or during meiosis. SPGF4 is a form of azoospermia due to perturbations of meiosis.
For a discussion of phenotypic and genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).
Recurrent Pregnancy Loss
Miscarriage, the commonest complication of pregnancy, is the spontaneous loss of a pregnancy before the fetus has reached viability. The term therefore includes all pregnancy losses from the time of conception until 24 weeks' gestation. Recurrent miscarriage, defined as 3 or more consecutive pregnancy losses, affects about 1% of couples; when defined as 2 or more losses, the scale of the problem increases to 5% of all couples trying to conceive (summary by Rai and Regan, 2006).
Pregnancy losses have traditionally been designated 'spontaneous abortions' if they occur before 20 weeks' gestation and 'stillbirths' if they occur after 20 weeks. Subtypes of spontaneous abortions can be further distinguished on the basis of embryonic development and include anembryonic loss in the first 5 weeks after conception (so-called 'blighted ovum'), embryonic loss from 6 to 9 weeks' gestation, and fetal loss from 10 weeks' gestation through the remainder of the pregnancy. These distinctions are important because the causes of pregnancy loss vary over gestational ages, with anembryonic losses being more likely to be associated with chromosomal abnormalities, for example. Possible etiologies for recurrent pregnancy loss include uterine anatomic abnormalities, cytogenetic abnormalities in the parents or fetus, single gene disorders, thrombophilic conditions, and immunologic or endocrine factors as well as environmental or infectious agents (summary by Warren and Silver, 2008).
For a discussion of genetic heterogeneity of recurrent pregnancy loss, see RPRGL1 (614389).|OMIM|N|
C0232984|An endocrine state in men, characterized by a significant decline in the production of TESTOSTERONE; DEHYDROEPIANDROSTERONE; and other hormones such as HUMAN GROWTH HORMONE. Andropause symptoms are related to the lack of androgens including DEPRESSION, sexual dysfunction, and OSTEOPOROSIS. Andropause may also result from hormonal ablation therapy for malignant diseases.|MSH|N|
C0232989|A pregnancy that is normal for both the mother and the fetus.|NCI|N|
C0233105|Expulsion of all the products of conception following spontaneous, medical or operative pregnancy termination.|NCI|N|
C0233126|The number of uterine contractions recorded over a period of time, usually in minutes; measured from the start of one contraction to the start of the next.|NCI|N|
C0233130|The length of time from the beginning to the end of a single uterine contraction during the labor and childbirth process.|NCI|N|
C0233187|Irregular infrequent uterine contractions typically characteristic of the third trimester of pregnancy that do not result in cervical change or labor.|NCI|N|
C0233194|A soft murmur heard in auscultating a pregnant uterus. It is caused by the increased vascularity of pregnancy.|NCI|N|
C0233212|The characteristic sign of impending birth during the second stage of labor. The presenting part of the head of fetus is visible and firmly rimmed by the maternal vaginal wall.|NCI|N|
C0233214|In a woman with a normal weight pre-pregnancy body mass index (BMI), i.e. 18.5-24.9, the weight gained during pregnancy does not exceed a total weight gain of 25 lbs. In a woman with an underweight pre-pregnancy body mass index (BMI), i.e. less than 18.5, the weight gained during pregnancy does not exceed a total weight gain of 28 lbs. In a woman with an overweight pre-pregnancy body mass index (BMI), i.e. 25.0-29.9, the weight gained during pregnancy does not exceed a total weight gain of 15 lbs. In a woman with an obese pre-pregnancy body mass index (BMI), i.e. greater than 30, the weight gained during pregnancy does not exceed a total weight gain of 11 lbs. These standards are supported for the whole population irrespective of height, race or ethnicity.|NCI|N|
C0233221|The movement of the fetus led by the presenting part into the maternal pelvic cavity during active labor.|NCI|N|
C0233224|A position assumed by fetal body parts to one another (head, chest, arms and legs) in relation to the chest.|NCI|N|
C0233226|A change in the position of the head of the fetus as it descends through the maternal pelvic cavity during labor and delivery.|NCI|N|
C0233232|A finding during labor, in which the occiput rotates anteriorly and the head of the fetus assumes an oblique orientation while the fetus descends through the maternal pelvis.|NCI|N|
C0233234|The repositioning of the fetal head attitude immediately after delivery, returning to a normal position in alignment with the rest of its body.|NCI|N|
C0233256|Any presentation other than a vertex presentation. (reVITALize)|NCI|N|
C0233257|A type of fetal presentation where the fetal spine is aligned along the longitudinal axis of the uterus and descends into the birth canal during delivery.|NCI|N|
C0233260|A fetal presentation where the head is presenting first in the pelvic inlet. Does not apply if compound or breech presentation or if brow, face, hand, shoulder, etc. present first in the pelvic inlet. (reVITALize)|NCI|N|
C0233269|A fetal presentation during delivery in which the face of the fetus is first to descend into the birth canal.|NCI|N|
C0233276|A fetal presentation during delivery in which the brow of the fetus is first to descend into the birth canal.|NCI|N|
C0233283|A kind of breech presentation in which the hips are flexed and the knees are flexed.|HPO|N|
C0233286|A kind of breech presentation in which the hips are flexed and the knees are extended.|HPO|N|
C0233302|The positioning of the umbilical cord before the main presenting part of the fetus.|NCI|N|
C0233308|A rupture of the fetal membranes that is not concurrent with or immediately following a digital exam or other transvaginal intervention involving the amniotic membrane.|NCI|N|
C0233409|Impaired awareness of place, often characteristic of organic mental disorders.|PSY|N|
C0233469|Inability to feel positive or negative emotions, feelings of detachment, or reduced emotional responsiveness.|HPO|N|
C0233471|The absence of emotional expressiveness.|NCI|N|
C0233472|Emotional instability characterized by rapid and dramatic mood swings. (ACC-AHA)|NCI|N|
C0233477|A state of feeling very unhappy, uneasy, or dissatisfied.|HPO|N|
C0233481|Mental distress resulting from concern for something impending or anticipated.|NCI|N|
C0233494|A feeling of mental or emotional strain or suspense.|NCI|N|
C0233514|Atypical behavior is an abnormality in a person's actions, which can be controlled or modulated by the will of the individual. While abnormal behaviors can be difficult to control, they are distinct from other abnormal actions that cannot be affected by the individual's will.|HPO|N|
C0233522|An explicit or perceived action, demonstration, conduct, or language (verbal and written) that is contrary to generally accepted norms, rules, procedures, or unacceptable within the context in which it is carried out. Inappropriate behaviors could take place in a sexual or social context and could be aggressive, violent, impulsive, intimidating, or threatening in nature.|HPO|N|
C0233523|A deliberate pattern of behavior that demonstrates both willful aggression toward other people and an intentional disregard for the common, current norms of social conduct.|NCI|N|
C0233542|Struggle or disagreement between parents, parent and child or other members of a family.|MSH|N|
C0233565|Bradykinesia literally means slow movement, and is used clinically to denote a slowness in the execution of movement (in contrast to hypokinesia, which is used to refer to slowness in the initiation of movement).|HPO|N|
C0233591|An excessive frequency of spinning one's body.|HPO|N|
C0233593|Repetitive pressing, poking, and/or rubbing in the eyes.|HPO|N|
C0233610|Opposing or not responding to instructions or external stimuli.|HPO|N|
C0233623|Onychotillomania is characterized by the compulsive or irresistible urge in patients to pick at, pull off, or harmfully bite or chew their nails.|HPO|N|
C0233626|Repetition of words, letters and phrases in writing.|SNOMEDCT_US|N|
C0233627|Involuntary repetition of words and phrases.|SNOMEDCT_US|N|
C0233632|Disturbances of thinking that affect thought content, language, and/or communication marked by delusions, incoherence, and profound loosening of associations.|PSY|N|
C0233640|Belief that one''s utterances, thoughts, or behavior can have a controlling influence on specific events or prevent their occurrence by means that operate beyond the normal laws of cause and effect.|PSY|N|
C0233646|Unintelligible speech occurring in hypnotic or mediumistic trances, religious experiences, or some mental disorders.|PSY|N|
C0233647|Consistent use of an invented word that is unique to an individual.|HPO|N|
C0233651|Manifestations of perseverative thoughts are behaviors that do not meet the demands of the situation, are not the product of deliberation, and may unfold despite counter intention.|HPO|N|
C0233657|Successive thoughts and speech are easily diverted by external stimuli or internal superficial associations.|HPO|N|
C0233660|Difficulty in recollection, or interruption of a train of thought or speech, due to emotional factors.|NCI|N|
C0233668|An unreasonable and an isolated sustained belief that is maintained with less than delusional intensity (i.e. the person is able is to acknowledge the possibility that the belief may or may not be true). The belief is not of one that is ordinarily accepted by other members of the person's culture or sub-culture.|HPO|N|
C0233677|A false belief associated with the nonexistence of the "self," specific body parts, or the world.|HPO|N|
C0233689|A false belief that a person is the victim of his or her partner's unfaithfulness.|HPO|N|
C0233690|A pathological impulse to write obscene letters or sexual arousal from writing obscenities.|SNOMEDCT_US|N|
C0233701|Fear of heights.|PSY|N|
C0233705|An overwhelming, irrational, and persistent fear of being diagnosed with cancer.|NCI|N|
C0233711|An overwhelming, irrational, and persistent fear of animals.|NCI|N|
C0233718|Abnormal increased rate and amount of speech, delivered with urgency.|NCI|N|
C0233729|Coprolalia denotes the involuntary utterance of obscenities. Intent is an important classifier in coprolalic behaviors, and unfortunately it remains unclear how to objectively distinguish coprolalia from common swearing.|HPO|N|
C0233743|Physical characteristics of speech that indicate linguistic features such as stress, intonation, intensity, and duration of speech sounds.|PSY|N|
C0233746|A misperception of sensory stimuli.|NCI|N|
C0233754|Depersonalization is a subjective experience in which an individual feels a sense of detachment or estrangement from their surroundings, leading to a distorted perception of the external world. It is characterized by a feeling of unreality or unfamiliarity with one's environment, as if things are dreamlike, artificial, or lacking in significance.|HPO|N|
C0233762|Perception of sounds without auditory stimulus.|HPO|N|
C0233763|Visual perception in the absence of a visual stimulus.|HPO|N|
C0233765|Perception of a smell in the absence of a corresponding stimulus.|NCI|N|
C0233766|Perception of a taste in the absence of a corresponding stimulus.|NCI|N|
C0233767|Perception of touch without a tactile stimulus.|HPO|N|
C0233769|An alteration in visual perception that causes objects to appear smaller than their actual size.|NCI|N|
C0233771|An alteration in visual perception that causes objects to appear larger than their actual size.|NCI|N|
C0233773|Hypnagogic hallucinations are brief hallucinations that occur as you are falling asleep.|HPO|N|
C0233774|A type of hallucination that involves the perception of sensory experiences related to the body or its internal organs, systems, or processes. It is a hallucinatory experience that primarily affects bodily sensations rather than external sensory perceptions.|HPO|N|
C0233777|Mental disorder characterized by hallucinations occurring in a normal state of consciousness and attributable to specific organic factors.|PSY|N|
C0233778|Synesthesia is broadly defined as the experience of involuntary sensory crossactivation in which the presentation of a particular stimulus elicits a secondary sensory-perceptual experience (Barnett et al., 2008). Although this phenomenon can be acquired or transient due to trauma or drugs, there is a congenital or developmental form that shows familial patterns. Synesthesia can occur between any 2 sensory modalities, but the most common and best-studied forms of synesthesia involve the association of color with linguistic stimuli such as letters, numbers, or words, or with music ('colored hearing,' 'colored music'; Baron-Cohen et al., 1996). Other less common forms include the induction of tastes by words, the induction of touch by vision, the induction of shapes by tastes, and the personification of numbers (Barnett et al., 2008).|OMIM|N|
C0233794|An impairment of memory as manifested by a reduced ability to remember things such as dates and names, and increased forgetfulness.|HPO|N|
C0233795|The impaired ability to establish new long-term memories.|HPO|N|
C0233800|Giving untruthful answers to questions about situations or events that are not recalled due to loss of memory. Confabulation is not a conscious attempt to deceive.|PSY|N|
C0233803|A subjective feeling that an experience which has occurred before is being experienced for the first time.|HPO|N|
C0233815|Maladaptive judgment resulting from wish-fulfilling, impulsive decisions based on need for immediate infantile gratification.|PSY|N|
C0233818|Reduced ability to plan, poor decision making.|NCI|N|
C0233824|Lack of insight (Anosognosia) is a neurological condition in which an individual is unaware of his or her own neurological deficit or psychiatric condition. Anosognosia can be associated with mental illness, dementia, and structural brain lesions and can affect an indviduals's conscious awareness of deficits involving judgment, emotions, memory, executive function, language skills, and motor ability.|HPO|N|
C0233844|Lack of physical coordination resulting in an abnormal tendency to drop items or bump into objects.|HPO|N|
C0233849|The characteristics in behavior that a certain person has.|NCI|N|
C0233931|An involuntary ejaculation of semen accompanying an erotic dream.|NCI|N|
C0233954|Forcible sexual assault is sexual assault that involves force, threat of force, or injury.|SNOMEDCT_US|N|
C0234004|An indication that a couple has informally separated.|NCI|N|
C0234022|Inability of individual to reach orgasm.|HPO|N|
C0234047|Difficulty of a male in achieving orgasm.|HPO|N|
C0234132|Functional neurological abnormalities related to dysfunction of the pyramidal tract.|HPO|N|
C0234133|A neurological condition related to lesions of the basal ganglia leading to typical abnormalities including akinesia (inability to initiate changes in activity and perform volitional movements rapidly and easily), muscular rigidity (continuous contraction of muscles with constant resistance to passive movement), chorea (widespread arrhythmic movements of a forcible, rapid, jerky, and restless nature), athetosis (inability to sustain the muscles of the fingers, toes, or other group of muscles in a fixed position), and akathisia (inability to remain motionless).|HPO|N|
C0234144|A writing disability in the absence of motor or sensory deficits of the upper extremities, resulting in an impairment in the ability to write regardless of the ability to read and not due to intellectual impairment.|HPO|N|
C0234146|Absence of neurologic reflexes such as the knee-jerk reaction.|HPO|N|
C0234155|Anomaly of the physiological response to maintain the body's posture when movement and position is altered.|HPO|N|
C0234162|A type of ataxia characterized by the inability to carry out movements with the correct range and motion across the plane of more than one joint related to incorrect estimation of the distances required for targeted movements.|HPO|N|
C0234166|Hereditary hyperekplexia is a condition in which affected infants have increased muscle tone (hypertonia) and an exaggerated startle reaction to unexpected stimuli, especially loud noises. Following the startle reaction, infants experience a brief period in which they are very rigid and unable to move. During these rigid periods, some infants stop breathing, which, if prolonged, can be fatal. Infants with hereditary hyperekplexia have hypertonia at all times, except when they are sleeping.\n\nOther signs and symptoms of hereditary hyperekplexia can include muscle twitches when falling asleep (hypnagogic myoclonus) and movements of the arms or legs while asleep. Some infants, when tapped on the nose, extend their head forward and have spasms of the limb and neck muscles. Rarely, infants with hereditary hyperekplexia experience recurrent seizures (epilepsy).\n\nThe signs and symptoms of hereditary hyperekplexia typically fade by age 1. However, older individuals with hereditary hyperekplexia may still startle easily and have periods of rigidity, which can cause them to fall down. They may also continue to have hypnagogic myoclonus or movements during sleep. As they get older, individuals with this condition may have a low tolerance for crowded places and loud noises. People with hereditary hyperekplexia who have epilepsy have the seizure disorder throughout their lives.\n\nHereditary hyperekplexia may explain some cases of sudden infant death syndrome (SIDS), which is a major cause of unexplained death in babies younger than 1 year.|MedlinePlus Genetics|N|
C0234174|A type of primitive reflex that is elicited by lightly touching or tapping on the lips with an object such as a tongue blade, reflex hammer, or the examiner's finger. At times the reflex is obtained merely by approaching the lips with an object. A positive suck reflex consists of sucking movements by the lips when they are stroked or touched.|HPO|N|
C0234175|A type of primitive reflex that can be elicated when the hand of the examiner is gently inserted into the palm of the patient's hand. The palmar surface is stroked or simply touched. The flexor surfaces of the fingers may be stimulated also by the examiner's fingers. The stimulus should be in a distal direction. With a positive response, the patient grasps the examiner's hand with variable strength and continues to grasp as the examiner's hand is moved. Ability to release the grip voluntarily depends on the activity of the reflex; some patients can do so readily, while others can even be lifted off the bed, since the grasp has such power [NCBI Books:NBK395].|HPO|N|
C0234179|Involuntary lifting of the legs upon lifting a patient''s head.|SNOMEDCT_US|N|
C0234180|A contraction of ipsilateral facial muscles subsequent to percussion over the facial nerve.|HPO|N|
C0234182|A phenomenon whereby patients are not able to stand up without the use of the hands owing to weakness of the proximal muscles of the lower limbs.|HPO|N|
C0234221|A type of paresthesia (tingling, pins-and-needles, burning or numbness or stiffness) that occurs in the hands and feet and particularly in the fingers and toes.|HPO|N|
C0234225|0 No pain|LNC|N|
C0234230|A sensation of intensely hot or searing discomfort.|NCI|N|
C0234233|A dull achy pain.|NCI|N|
C0234238|A dull persistent (usually moderately intense) pain.|NCI|N|
C0234245|Pain originating from internal organs (VISCERA) associated with autonomic phenomena (PALLOR; SWEATING; NAUSEA; and VOMITING). It often becomes a REFERRED PAIN.|MSH|N|
C0234250|A type of pain that is perceived in an area away from the site where the pain arises, such as facial pain caused by lesion of the VAGUS NERVE, or throat problem generating referred pain in the ear.|MSH|N|
C0234254|Pain that is perceived to extend or spread out from one area of the body to another.|HPO|N|
C0234355|A type of dyssynergy characterized by the lack of the ability to smoothly perform the elements of a voluntary movement in the appropriate order and speed.|HPO|N|
C0234362|Unintentional movement in one area of the body produced during intentional movement of another area of the body.|HPO|N|
C0234376|A tremor present when the limbs are active, either when outstretched in a certain position or throughout a voluntary movement.|HPO|N|
C0234378|A type of tremors that is triggered by holding a limb in a fixed position.|HPO|N|
C0234379|A resting tremor occurs when muscles are at rest and becomes less noticeable or disappears when the affected muscles are moved. Resting tremors are often slow and coarse.|HPO|N|
C0234398|A vision disorder that results from damage of the part of the cerebral cortex that is involved in the processing of visual information.|NCI|N|
C0234422|0 = Awake--alert and settled|LNC|N|
C0234425|The level of awareness of an organism.|NCI|N|
C0234428|Abnormally diminished level of attention, responsiveness, or wakefulness.|HPO|N|
C0234447|A state of depressed CENTRAL NERVOUS SYSTEM marked by stupor or insensibility.|MSH|N|
C0234471|A type of fluent aphasia characterized by an impaired ability to repeat one and two word phrases, despite retained comprehension. This condition is associated with dominant hemisphere lesions involving the arcuate fasciculus (a white matter projection between Broca''s and Wernicke''s areas) and adjacent structures. Like patients with Wernicke aphasia (APHASIA, WERNICKE), patients with conduction aphasia are fluent but commit paraphasic errors during attempts at written and oral forms of communication. (From Adams et al., Principles of Neurology, 6th ed, p482; Brain & Bannister, Clinical Neurology, 7th ed, p142; Kandel et al., Principles of Neural Science, 3d ed, p848)|MSH|N|
C0234497|An agnosia that is a loss of the ability to recognize musical notes, rhythms, and intervals.|MONDO|N|
C0234501|The condition is characterized by the inability to recognize spoken languages and/or nonverbal environmental sounds and music, despite having adequate hearing. However, spontaneous speech, reading, and writing abilities remain intact.|HPO|N|
C0234502|The condition is known as visual agnosia, which refers to the inability to recognize objects that are visually presented, even though the individual may have normal visual field, acuity, color vision, brightness discrimination, language, and memory.|HPO|N|
C0234505|Tactile agnosia refers to the inability to recognize objects by touch, while the inability to discriminate shape and size by touch is also a related condition.|HPO|N|
C0234506|The inability to perceive the passage of time is usually due to a disorder involving the temporal area of the brain.|HPO|N|
C0234507|An agnosia that is a loss of the ability to gain feedback about one's own condition or impairments.|MONDO|N|
C0234509|The examiner identified the inability to name, move, or touch specific fingers.|HPO|N|
C0234511|The loss of the ability to localize, recognize, or identify specific parts of one's body.|HPO|N|
C0234512|Inability to recognize faces of familiar persons.|HPO|N|
C0234517|A defect in the motor ability that enables speech.|HPO|N|
C0234518|Abnormal coordination of muscles involved in speech.|HPO|N|
C0234523|A form of apraxia characterized by an acquired inability to carry out a complex motor activity despite the ability to mentally formulate the action. This condition has been attributed to a disruption of connections between the dominant parietal cortex and supplementary and premotor cortical regions in both hemispheres. (From Adams et al., Principles of Neurology, 6th ed, p57)|MONDO|N|
C0234533|A generalized-onset seizure is a type of seizure originating at some point within, and rapidly engaging, bilaterally distributed networks. The networks may include cortical and subcortical structures but not necessarily the entire cortex.|HPO|N|
C0234535|A clonic seizure is a type of motor seizure characterized by sustained rhythmic jerking, that is regularly repetitive.|HPO|N|
C0234542|An epileptic aura is a purely subjective clinical manifestation of an epileptic seizure. If an epileptic aura is not followed by loss of awareness or propagation to a bilateral tonic-clonic seizure then it is a type of focal aware non-motor seizure.|HPO|N|
C0234616|This sign is created by a nonenhancing thrombus in the dural sinus surrounded by triangular enhancing dura as seen on cross-section. The sign, seen on contrast-enhanced CT scan images, suggests dural sinovenous thrombosis. It is best seen on wider window settings. It is a reliable sign of sinus thrombosis but is seen only in 25-30% of these cases.|HPO|N|
C0234622|The condition of where images are correctly brought to a focus on the retina.|MSH|N|
C0234629|An anomaly in the ability to discriminate between or recognize colors.|HPO|N|
C0234632|Diminished clarity of vision.|NCI|N|
C0234641|An anomaly of the corneal reflex that normally induces involuntary blinking of the eyelids following contact of the cornea.|HPO|N|
C0234649|An abnormality of eye movement characterized by impairment of fast (saccadic) eye movements.|HPO|N|
C0234650|Ocular flutter is an abnormal eye movement consisting of repetitive, irregular, involuntary bursts of horizontal saccades without an intersaccadic interval. It is generally superimposed on normal oculomotor behavior and its occurrence may be favored by various events, such as blinks, the triggering of normal saccades or optokinetic stimulation.|HPO|N|
C0234664|Delayed descent of the upper eyelid on downgaze. Also described by some authors as von Graefe sign.|HPO|N|
C0234665|With the eyes in primary position, the sclera is visible above the superior corneal limbus.|HPO|N|
C0234708|Intraocular pressure that is 2 standard deviations above the population mean.|HPO|N|
C0234791|Abnormally high or low-pitched vocalization or speech.|HPO|N|
C0234846|Articulatory defect secondary to dental defectCHAR(13)|HL7V3.0|N|
C0234861|The presence of a characteristic high-pitched cry that sounds similar to the meowing of a kitten.|HPO|N|
C0234866|A cough with a characteristic sound that has been compared to a seal's bark.|HPO|N|
C0234894|Cutaneous eruptions resembling acne, characterized by the presence of papulonodules, pustules, comedones, or cysts in the face, trunk, and extremities. Causes include infections and the use of certain medications (e.g., antibiotics and steroids).|NCI|N|
C0234909|Alteration of the normal characteristics of the fingernails or toenails. Examples include thickening, thinning, deformity, and separation from the nail bed.|NCI|N|
C0234918|An exanthema consisting of widespread pink-to-red macules (flat spots of 2-10 mm in diameter) or papules (red bumps) that blanch with pressure. The macules and papules may cluster and merge to form sheets over several days.|HPO|N|
C0234920|An acute onset rash characterized by by multiple vesicles, which are circumscribed, fluid-containing, epidermal elevations with a diameter less than 10mm at the widest point, and by multiple papules, which are circumscribed, solid epidermal elevations with no visible fluid with a diameter less than 10mm at the widest point.|HPO|N|
C0234925|The pores of the skin are generally large and visible with a coarse or thick texture. The skin has a tendency to look dull and greasy and feels oily to the touch.|NCI|N|
C0234962|Cellular inflammation, vessel destruction, and tissue necrosis of the blood vessels of the lung.|HPO|N|
C0234966|A postural abnormality characterized by the inability to stand without external support despite having sufficient muscle strength.|HPO|N|
C0234974|A type of focal-onset seizure in which awareness is preserved. Awareness during a seizure is defined as the patient being fully aware of themself and their environment throughout the seizure, even if immobile.|HPO|N|
C0234978|A epilepsy that involves the primary motor cortex.|MONDO|N|
C0234979|A type of ataxia characterized by the impairment of the ability to perform rapidly alternating movements, such as pronating and supinating his or her hand on the dorsum of the other hand as rapidly as possible.|HPO|N|
C0234985|Loss of previously present mental abilities, generally in adults.|HPO|N|
C0235013|A heightened alertness is characterized by a broad awareness and/or excessive scanning of environmental stimuli.|HPO|N|
C0235014|An outward curving of a fontanelle, which occurs when fluid builds up in the brain or the brain swells, causing increased pressure inside the skull.|HPO|N|
C0235025|Inflammation or degeneration of the peripheral motor nerves.|NCI|N|
C0235031|A term that refers to the clinical manifestations resulting from pathologic processes that affect the central and peripheral nervous system.|NCI|N|
C0235063|A decrease in ventilation secondary to impaired signals from the central nervous system.|NCI|N|
C0235068|A scintillating scotoma is a common visual aura that can preced a migraine, whereby a spot of flickering light near the center of the visual fields occurs. The spot prevents vision, and is thus termed scotoma. The scotoma can extend into one or more shimmering arcs of white or colored flashing lights.|HPO|N|
C0235082|An electrocardiographic recording with intermittent mid to high frequency artifact in one or more leads due to muscular tremor or movement rather than cardiac activity. (CDISC)|NCI|N|
C0235095|An absolute or relative decrease in retinal sensitivity extending from edge (periphery) of the visual field in a concentric pattern. The visual field is the area that is perceived simultaneously by a fixating eye.|HPO|N|
C0235146|Euphoria is a feeling of intense joy, happiness, excitement, or elation that surpasses what would typically be anticipated in a given situation.|HPO|N|
C0235193|A state of decreased activity in animals characterized by depressed metabolism, reduced body temperature, and low sensitivity to external stimuli.|MSH|N|
C0235195|A state of a lowered level of consciousness.|NCI|N|
C0235198|Being unable to focus one's attention or mental effort on a particular object or activity.|HPO|N|
C0235222|Hypertension characterized diastolic blood pressure greater than 90 mmHg on two occasions.|NCI|N|
C0235228|A disease that involves the lacrimal gland.|MONDO|N|
C0235238|Cycloplegia is paralysis of the ciliary muscle of the eye, resulting in a loss of accommodation.|MONDO|N|
C0235242|A condition in which syncope occurs either during or after physical activity. (ACC-AHA)|NCI|N|
C0235245|A condition in which syncope occurs due to a conversion disorder. (ACC-AHA)|NCI|N|
C0235259|A cataract that affects the region of the lens directly beneath the capsule of the lens.|HPO|N|
C0235266|A generic term used to describe sensations that bother the eyes like dryness, itchiness, burning and grittiness.|NCI|N|
C0235267|A reddish appearance over the white part (sclera) of the eye ranging from a few enlarged blood vessels appearing as wiggly lines over the sclera to a bright red color completely covering to sclera.|HPO|N|
C0235270|Any disorder of the cornea.|NCI|N|
C0235272|Injury to the retina due to advanced age, toxicity, exposure to bright lights, or trauma.|NCI|N|
C0235280|Damage to the inner ear as a result of exposure to drugs or chemicals.|NCI|N|
C0235287|Abnormal sense of smell.|NCI|N|
C0235325|Bleeding from the gastric wall.|NCI|N|
C0235328|Blockage of the normal flow of the intestinal contents in the colon.|NCI|N|
C0235329|Blockage of the normal flow of the small intestinal contents.|NCI|N|
C0235357|Developmental hypoplasia of teeth.|HPO|N|
C0235369|Hepatitis that is characterized by the presence of granulomas.|NCI|N|
C0235430|An increase in the level of ketone bodies (acetoacetic acid, beta-hydroxybutyric acid, and acetone) in the blood.|HPO|N|
C0235461|Excessive secretion of androgens from the adrenal glands or gonads. Clinical manifestations may include virilization.|NCI|N|
C0235472|An anomaly of the rhythmic throbbing of an artery that reflects the widening of the artery as blood flows through it and is caused by successive contractions of the heart.|HPO|N|
C0235475|Increased time for the complex comprised of the Q wave, R wave, and S wave as measured by the electrocardiogram (EKG).. In adults, normal values are 0.06 - 0.10 sec.|HPO|N|
C0235480|Episodes of atrial fibrillation that typically last for several hours up to one day and terminate spontaneously.|HPO|N|
C0235490|Deficient blood distribution to the limbs caused by narrowing or obstruction of the lumen of the peripheral arteries.|NCI|N|
C0235522|Any disorder of the veins.|NCI|N|
C0235527|Reduced ability of the right ventricle to perform its function (to receive blood from the right atrium and to eject blood into the pulmonary artery), often leading to pitting peripheral edema, ascites, and hepatomegaly.|HPO|N|
C0235532|Bluish discoloration of the distal extremities (hands, fingertips, toes), and can sometimes involve circumoral and periorbital areas. Mucous membranes are generally not involved.|HPO|N|
C0235546|Hypopnea is referring to breathing that is abnormally shallow.|HPO|N|
C0235557|A granuloma that is located in lung tissue.|NCI|N|
C0235560|Bleeding originating from any part of the respiratory tract.|NCI|N|
C0235585|Agranulocytosis that is autoimmune in origin.|MONDO|N|
C0235591|Inflammation of the submandibular lymph nodes.|NCI|N|
C0235592|Enlarged lymph nodes in the neck.|HPO|N|
C0235618|A constellation of renal disorders characterized by an increase number of cells in the glomerulus; these disorders generally present with nephrotic syndrome, and generally progress to end stage renal failure over a matter of weeks to years, depending on the etiology. Examples include IgA nephropathy, membranoproliferative glomerulonephritis, and rapidly progressive glomerulonephritis.|NCI|N|
C0235620|Bleeding originating from any part of the urinary system.|NCI|N|
C0235640|An inflammatory disease involving a pathogenic inflammatory response in the prepuce of penis.|MONDO|N|
C0235656|A localized pathological or traumatic structural change, damage, deformity, or discontinuity of the cervix uteri.|NCI|N|
C0235659|An abnormal reduction in quantity or strength of fetal movements.|HPO|N|
C0235660|Spontaneous flow of milk from the breast, unassociated with childbirth or nursing.|HPO|N|
C0235716|The sensation of chest pain described as an intense discomfort, similar to that experience as a result of a thermal burn, distinct from sharp, stabbing or aching, often related to nerves; sometimes used to describe gastric or esophageal pain.|NCI|N|
C0235735|Unanticipated desirable and beneficial effects resulting from a medical treatment.|NCI|N|
C0235744|An involuntary or voluntary pause in breathing, sometimes accompanied by loss of consciousness.|MSH|N|
C0235752|A congenital vascular malformation consisting of superficial and deep dilated capillaries in the skin which produce a reddish to purplish discolouration of the skin.|HPO|N|
C0235753|A hemangioma present at birth.|NCI|N|
C0235754|A rare benign neoplasm that arises from the urinary tract and is characterized by the presence of a papillary growth with a central fibrovascular core. The latter is lined by normal urothelium.|NCI|N|
C0235760|The concentration of iron in the blood circulation is outside the limits of normal.|HPO|N|
C0235761|A full-thickness defect of the nasal septum.|HPO|N|
C0235770|A cystic cancerous tumor arising from the ovary.|NCI|N|
C0235782|A malignant tumor arising from the epithelium of the gallbladder. It is usually associated with the presence of gallstones. Clinical symptoms are not specific and usually present late in the course. Morphologically, most gallbladder carcinomas are adenocarcinomas; squamous cell carcinomas, adenosquamous carcinomas, signet ring carcinomas, and undifferentiated carcinomas can also occur.|NCI|N|
C0235812|Inflammation of the vitreous body, characterized by the presence of inflammatory cells and protein exudate in the vitreous cavity.|HPO|N|
C0235813|Leukemia that occurs during the neonatal period.|NCI|N|
C0235814|A condition causing exacerbation of the clinical features of neurofibromatosis.|NCI|N|
C0235820|Abnormal functioning of the central nervous system in the newborn period that may be due to a variety of etiologies including hypoxia/ischemia, metabolic disturbance, or infection.|NCI|N|
C0235821|An increase in the desirable and beneficial effects resulting from a medical treatment.|NCI|N|
C0235827|A reduction in the desirable and beneficial effects resulting from a medical treatment.|NCI|N|
C0235828|The lack of expected or desired effect related to a therapy.|NCI|N|
C0235831|A finding of congenital malformations in the kidney characterized by the presence of cysts of various sizes, primitive ducts, islands of metaplastic cartilage and undifferentiated mesenchyme, and the absence of cortico-medullary demarcation.|NCI|N|
C0235833|The presence of a hernia of the diaphragm present at birth.|HPO|N|
C0235842|Acute inflammation characterized by neutrophilic infiltration of the decidua.|NCI|N|
C0235857|Abnormally decreased lacrimation, that is, reduced ability to produce tears.|HPO|N|
C0235864|Congenital hypertrichosis lanuginosa is a rare disorder characterized by excessive lanugo hair present at birth covering the entire body surface except the mucosae, palms, and soles (summary by De Raeve and Keymolen, 2011).|OMIM|N|
C0235880|Neuritis of a single nerve.|MONDO|N|
C0235884|A rupture in the gastric wall caused by traumatic or pathologic processes.|NCI|N|
C0235887|A rare peritoneal cavity disorder that is characterized by the development of dense fibrous tissue in the peritoneum and the creation of severe adhesions in the abdomen that result in partial or complete small bowel obstruction. It may be idiopathic or develop in patients who receive peritoneal dialysis treatment. Patients present with abdominal distention and pain.|NCI|N|
C0235889|Exacerbation of an arthritic condition.|NCI|N|
C0235896|A finding indicating the presence of an inflammatory or neoplastic cellular infiltrate in the lung parenchyma.|NCI|N|
C0235912|Bleeding originating from the liver.|NCI|N|
C0235916|A laboratory test result indicating an increased concentration of calcitonin in the blood serum.|NCI|N|
C0235922|A neoplasm that arises from the breast in females and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C0235939|Any anomaly of the vocalizing of an infant's crying, i.e.,the typically loud voice production that is accompanied by tears and agitation.|HPO|N|
C0235942|An abnormality of the skull, the bony framework of the head which is comprised of the neurocranium (with eight cranial bones) and the viscerocranium (facial skeleton) that comprises fourteen facial bones with the mandible as its largest bone.|HPO|N|
C0235946|Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum.|HPO|N|
C0235950|A genetic or acquired metabolic disorder that is associated with zinc deficiency in the tissues.|NCI|N|
C0235969|A disorder referring to problems related to ejaculation. This category includes premature, delayed, retrograde, and painful ejaculation.|NCI|N|
C0235971|Concentration of alpha-fetoprotein in the blood circulation above the upper limit of normal.|HPO|N|
C0235974|Pancreatic cancer shows among the highest mortality rates of any cancer, with a 5-year relative survival rate of less than 5%. By the time of initial diagnosis, metastatic disease is commonly present. Established risk factors include a family history of pancreatic cancer, a medical history of diabetes type 2, and cigarette smoking (summary by Amundadottir et al., 2009).
Genetic Heterogeneity of Pancreatic Cancer
Somatic mutations in pancreatic cancer occur in the KRAS (190070), CDKN2A (600160), MADH4 (600993), TP53 (191170), ARMET (601916), STK11 (602216), ACVR1B (601300), and RBBP8 (604124) genes.
Susceptibility loci for pancreatic cancer include PNCA1 (606856), related to mutation in the PALLD gene on chromosome 4q32 (608092); PNCA2 (613347), related to mutation in the BRCA2 gene on chromosome 13q12 (600185); PNCA3 (613348), related to mutation in the PALB2 gene on chromosome 16p12 (610355); PNCA4 (614320), related to mutation in the BRCA1 gene on chromosome 17q21 (113705); and PNCA5 (618680), related to mutation in the RABL3 gene on chromosome 3q13 (618542).
Occurrence of Pancreatic Cancer in Other Disorders
Several familial cancer syndromes increase the risk of pancreatic cancer. The best characterized include hereditary nonpolyposis colon cancer syndrome (HNPCC; see 120435); hereditary breast-ovarian cancer syndrome due to mutations in BRCA2; Peutz-Jeghers syndrome (175200); the melanoma-pancreatic cancer syndrome (606719), caused by mutations in CDKN2A (600160); von Hippel-Lindau syndrome (193300), ataxia-telangiectasia (208900) (Swift et al., 1976), and juvenile polyposis syndrome (174900).
Patients with hereditary pancreatitis (167800) resulting from gain-of-function mutations in the protease serine-1 gene (PRSS1; 276000) have a lifetime pancreatic cancer risk ratio of 57 and a cumulative incidence, to age 70 years, of 40% (Lowenfels et al., 1997).|OMIM|N|
C0235986|Acromegaly is a condition resulting from overproduction of growth hormone by the pituitary gland in persons with closed epiphyses, and consists chiefly in the enlargement of the distal parts of the body. The circumference of the skull increases, the nose becomes broad, the tongue becomes enlarged, the facial features become coarsened, the mandible grows excessively, and the teeth become separated. The fingers and toes grow chiefly in thickness.|HPO|N|
C0235987|Inappropriate secondary sex characteristics in the neonate usually due to in utero androgen exposure.|NCI|N|
C0235988|The concentration of iron in the blood circulation is below the lower limit of normal.|HPO|N|
C0235989|The accumulation of collagen and related extracellular matrix (ECM) molecules in the interstitium of the kidney. The interstitium is expanded by the presence of collagen that stain blue on trichrome. Tubules are not back to back, but rather separated by fibrosis and can be atrophic.|HPO|N|
C0235991|Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age.|HPO|N|
C0236000|An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the jaw.|HPO|N|
C0236018|Sensations experienced immediately prior to the onset of a seizure, migraine headache, or other nervous system disorder symptoms. Also, the patient''s recognition of the beginning of an epileptic attack. Use PARAPSYCHOLOGY or PARAPSYCHOLOGICAL PHENOMENA to access references on psychic auras and halos.|PSY|N|
C0236022|A malignant neoplasm that shows clinical and/or pathologic progression.|NCI|N|
C0236024|Abnormal accumulation of fluid leading to swelling of the pharynx.|HPO|N|
C0236026|A rare teratogenic disease due to embryo/fetal exposure to valproic acid (VPA) and subsequently characterized by a distinct facial dysmorphism, congenital anomalies and developmental delay (especially in language and communication).|ORDO|N|
C0236038|Nonsyndromic hearing loss is a partial or total loss of hearing that is not associated with other signs and symptoms. In contrast, syndromic hearing loss occurs with signs and symptoms affecting other parts of the body.\n\nNonsyndromic hearing loss can be classified in several different ways. One common way is by the condition's pattern of inheritance: autosomal dominant (DFNA), autosomal recessive (DFNB), X-linked (DFNX), or mitochondrial (which does not have a special designation). Each of these types of hearing loss includes multiple subtypes. DFNA, DFNB, and DFNX subtypes are numbered in the order in which they were first described. For example, DFNA1 was the first type of autosomal dominant nonsyndromic hearing loss to be identified.\n\nThe characteristics of nonsyndromic hearing loss vary among the different types. Hearing loss can affect one ear (unilateral) or both ears (bilateral). Degrees of hearing loss range from mild (difficulty understanding soft speech) to profound (inability to hear even very loud noises). The term "deafness" is often used to describe severe-to-profound hearing loss. Hearing loss can be stable, or it may be progressive, becoming more severe as a person gets older. Particular types of nonsyndromic hearing loss show distinctive patterns of hearing loss. For example, the loss may be more pronounced at high, middle, or low tones.\n\nMost forms of nonsyndromic hearing loss are described as sensorineural, which means they are associated with a permanent loss of hearing caused by damage to structures in the inner ear. The inner ear processes sound and sends the information to the brain in the form of electrical nerve impulses. Less commonly, nonsyndromic hearing loss is described as conductive, meaning it results from changes in the middle ear. The middle ear contains three tiny bones that help transfer sound from the eardrum to the inner ear. Some forms of nonsyndromic hearing loss, particularly a type called DFNX2, involve changes in both the inner ear and the middle ear. This combination is called mixed hearing loss.\n\nDepending on the type, nonsyndromic hearing loss can become apparent at any time from infancy to old age. Hearing loss that is present before a child learns to speak is classified as prelingual or congenital. Hearing loss that occurs after the development of speech is classified as postlingual.|MedlinePlus Genetics|N|
C0236048|A polyp that arises from the stomach. This category includes neoplastic polyps (intestinal-type adenomatous polyps, gastric-type adenomas, and fundic gland polyps), and non-neoplastic polyps (hyperplastic polyps and hamartomatous polyps).|NCI|N|
C0236053|A circumscribed loss of integrity of the mucous membrane.|NCI|N|
C0236062|A laboratory test result which indicates decreased levels of haptoglobin in a biological specimen.|NCI|N|
C0236075|Any of the mental or physical manifestations that accompany perimenopause and menopause.|NCI|N|
C0236078|An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the scrotum.|HPO|N|
C0236082|A painful sensation in the vagina.|NCI|N|
C0236099|A non-neoplastic or neoplastic disorder that affects the male genital system. Representative examples of non-neoplastic disorders include infection, testicular torsion, and undescended testis. Representative examples of neoplastic disorders include germ cell tumors, carcinoma, lymphoma, and sarcoma.|NCI|N|
C0236100|A non-neoplastic or neoplastic disorder that affects the female genital system. Representative examples of non-neoplastic disorders include infection, endometriosis, and adenomyosis. Representative examples of neoplastic disorders include germ cell tumors, carcinoma, lymphoma, and sarcoma.|NCI|N|
C0236159|Any deviation from the normal total-iron binding capacity, which measures how much serum iron is bound if an excess of radioactive iron is added.|HPO|N|
C0236175|An abnormally increased overall level of immunoglobulin E in blood.|HPO|N|
C0236178|Bleeding within the abdominal cavity.|NCI|N|
C0236642|Pick disease refers to the neuropathologic finding of 'Pick bodies,' which are argyrophilic, intraneuronal inclusions, and 'Pick cells,' which are enlarged neurons. The clinical correlates of Pick disease of brain include those of frontotemporal dementia, which encompass the behavioral variant of FTD, semantic dementia, and progressive nonfluent aphasia (summary by Piguet et al., 2011).
Kertesz (2003) suggested the term 'Pick complex' to represent the overlapping syndromes of FTD, primary progressive aphasia (PPA), corticobasal degeneration (CBD), progressive supranuclear palsy (601104), and FTD with motor neuron disease. He noted that frontotemporal dementia may also be referred to as 'clinical Pick disease,' and that the term 'Pick disease' should be restricted to the pathologic finding of Pick bodies.|OMIM|N|
C0236663|Processes and symptomatic effects resulting from abstinence from alcohol. Used for both human and animal populations.|PSY|N|
C0236664|Disorders related to or resulting from abuse or mis-use of alcohol.|MONDO|N|
C0236733|Disorders related or resulting from use of amphetamines.|MSH|N|
C0236736|Disorders related or resulting from use of cocaine.|MSH|N|
C0236748|An anxiety disorder in which the symptoms of anxiety have been determined to be the direct physiological consequence of a general medical condition.|NCI|N|
C0236788|A bipolar disorder that is characterized by at least one hypomanic episode and at least one major depressive episode; with this disorder, depressive episodes are more frequent and more intense than manic episodes.|MONDO|N|
C0236791|Childhood disintergrative disorder is a rare pervasive developmental disorder with a disease onset before the age of three and characterized by a dramatic loss of behavioral and developmental functioning after atleast two years of normal development. Manifestations of the disease include loss of speech, incontinence, communication and social interaction problems, stereotypical autistic behaviors and dementia.|ORDO|N|
C0236792|A disorder most often diagnosed in the pediatric years in which the individual displays marked impairment in social interaction and a repetitive, stereotyped pattern of behavior. The individual, however, displays no delay in language or cognitive development, which differentiates Asperger Syndrome from autism.|NCI|N|
C0236794|A disorder in which an individual experiences recurrent, unexpected panic attacks and persistent concern about having additional panic attacks. Agoraphobia is not a component of this disorder.|NCI|N|
C0236795|A disorder characterized by a retrospective gap in memory of important personal information, usually of a traumatic or stressful nature; the memory loss far exceeds ordinary forgetfulness and is not the result of substance use or the consequence of a medical condition.|NCI|N|
C0236800|A disorder in which an individual experiences recurrent, unexpected panic attacks and persistent concern about having additional panic attacks. Agoraphobia is a component of this disorder.|NCI|N|
C0236801|An anxiety disorder characterized by an intense, irrational fear cued by the presence or anticipation of a specific object or situation. Exposure to the phobic stimulus immediately provokes an anxiety response. In adults, the specific phobia is recognized as excessive or unreasonable.|NCI|N|
C0236804|Addiction to amphetamine or dextroamphetamine is a serious concern.|HPO|N|
C0236807|Disorders related or resulting from use of amphetamines.|MONDO|N|
C0236811|Disruptions of the rhythmic cycle of bodily functions or activities.|MSH|N|
C0236816|An anxiety disorder precipitated by an experience of intense fear or horror while exposed to a traumatic (especially life-threatening) event. The disorder is characterized by dissociative symptoms; vivid recollections of the traumatic event; avoidance of stimuli associated with the traumatic event; and a constant state of hyperarousal for no more than one month.|NCI|N|
C0236818|Voluntary failure to use spoken language (at whatever level attained) in selective social contexts over a period of time.|HPO|N|
C0236826|A disorder characterized by an impairment in the development of an individual''s expressive language which is in contrast to his/her nonverbal intellect and receptive language development. The impairment may be acquired (i.e., due to a brain lesion or head trauma) or developmental (i.e., no known neurological insult).|NCI|N|
C0236827|A disorder characterized by an impairment in the development of an individual''s expressive and receptive language capabilities which is in contrast to his/her nonverbal intellect. The impairment may be acquired (i.e., due to a brain lesion or head trauma) or developmental (i.e., no known neurological insult).|NCI|N|
C0236959|Encephalopathy resulting from trauma.|MONDO|N|
C0236964|Includes two similar disorders: oppositional defiant disorder and CONDUCT DISORDERS. Symptoms occurring in children with these disorders include: defiance of authority figures, angry outbursts, and other antisocial behaviors.|MSH|N|
C0236969|A category of psychiatric disorders which include disorders related to the taking of a drug of abuse (including alcohol, prescribed medications and recreational drugs).|NCI|N|
C0236970|Disorders stemming from the misuse and abuse of alcohol.|MONDO|N|
C0236988|A category of psychiatric disorders characterized by the presence of psychotic symptoms such as delusions or hallucinations or negative symptoms such as affective flattening.|NCI|N|
C0236989|A category of psychiatric disorders characterized by a disturbance in sexual desire and in the psychophysiological changes that make up the sexual response cycle.|NCI|N|
C0237020|An cystic ovarian teratoma composed of dermal and epidermal elements and containing tissue components including hair, teeth, bone, thyroid, and others.|HPO|N|
C0237021|A cystic lesion that arises from the ovary. It is characterized by the presence of cystic spaces that contain fluid and a solid tissue component.|NCI|N|
C0237065|Uterus tilted backward and folded over on itself.|MSH|N|
C0237088|Clinical evidence of disease resulting from mental and/or behavioral dysfunction.|NCI|N|
C0237123|Consumption of medicines, recreational drugs, or other materials likely to cause mood changes and/or psychological/physical dependence, illness, and disease.|OMS|N|
C0237154|Without a stable or permanent residence.|NCI|N|
C0237236|Sexual assault is any sexual activity to which you haven''t freely given your consent. This includes completed or attempted sex acts that are against your will. Sometimes it can involve a victim who is unable to consent. It also includes abusive sexual contact. It can happen to men, women or children.CHAR(13) The attacker can be anyone - a current or former partner, a family member, a person in position of power or trust, a friend, an acquaintance, or a stranger.CHAR(13) Sexual assault can affect your health in many ways. It can lead to long-term health and emotional problems. It is important to seek help if you have been assaulted. First, get to a safe place. Then dial 9-1-1 or go to a hospital for medical care. You may want to have counseling to deal with your feelings. The most important thing to know is that the assault was not your fault.CHAR(13) Centers for Disease Control and PreventionCHAR(13)|MEDLINEPLUS|N|
C0237284|Failing to produce an effect from some foregoing stimulus or agent.|NCI|N|
C0237314|A clinical finding in which the rhythm of the heart is noted to be abnormal. (ACC-AHA)|NCI|N|
C0237322|Reduced skin turgor means reduced elastic recoil of the skin to its normal contour after being pinched in a fold.|HPO|N|
C0237326|Difficult defecation.|MSH|N|
C0237361|A physical activity not elsewhere listed or specified.|NCI|N|
C0237616|Daydreaming dominated by unconscious material and primary processes for the purpose of wish fulfillment or to alleviate social isolation.|PSY|N|
C0237653|Immunological states where the immune system produces harmful responses upon reexposure to sensitizing antigens.|HPO|N|
C0237659|Apparent movement of a fixated light in a dark field.|PSY|N|
C0237676|A feeling of general unease or nervousness that may be triggered by a sense of vulnerability or instability, which is perceived as threatening.|HPO|N|
C0237849|Refers to the loss of the outer layer of the epidermis in large, scale-like flakes.|HPO|N|
C0237873|Physiological disturbances in normal sexual performance in either the male or the female.|MONDO|N|
C0237938|A deep defect in the esophageal, gastric, duodenal or intestinal wall involving the entire mucosal thickness and penetrating through the muscularis mucosae.|HPO|N|
C0237962|An abscess that is located in the abdominal cavity posterior to the peritoneum.|NCI|N|
C0237967|AIDS related research with a minimum of 20% (or $100,000) research efforts related to children 0-18 years of age. To include: Pregnant women, Neonates, Infants|NCI|N|
C0237971|An instance of adrenogenital syndrome that is acquired during the lifetime of the individual.|MONDO|N|
C0237979|A condition where a toxic reaction in the optic nerve results in visual loss. Various poisonous substances may cause the condition as well as nutritional factors.|MONDO|N|
C0238003|A malignant neoplasm arising from the glandular epithelium of the appendix with invasion of the appendiceal wall beyond the muscularis mucosa. The majority of cases are well differentiated adenocarcinomas with mucinous stroma formation. Clinically, it may present as an abdominal mass or with symptoms of acute appendicitis. Patients with chronic ulcerative colitis are at a higher risk in developing appendiceal adenocarcinomas compared to the general population.|NCI|N|
C0238013|An aspergillosis that is a serious fungal infection of the lung with pneumonia caused by Aspergillus, which spreads to other parts of the body through bloodstream in patients with acute leukemia and recipients of tissue transplants. Clinical symptoms include pulmonary nodules and hemorrhage.|MONDO|N|
C0238015|A syndrome associated with damage to the spinal cord above the mid thoracic level (see SPINAL CORD INJURIES) characterized by a marked increase in the sympathetic response to minor stimuli such as bladder or rectal distention. Manifestations include HYPERTENSION; TACHYCARDIA (or reflex bradycardia); FEVER; FLUSHING; and HYPERHIDROSIS. Extreme hypertension may be associated with a STROKE. (From Adams et al., Principles of Neurology, 6th ed, pp538 and 1232; J Spinal Cord Med 1997;20(3):355-60)|MONDO|N|
C0238016|An adenocarcinoma that arises from the Bartholin gland. Subtypes include papillary and mucinous adenocarcinoma.|NCI|N|
C0238019|A carcinoma that arises from the extrahepatic bile ducts. The majority are adenocarcinomas.|NCI|N|
C0238026|A congenital anomaly characterized by the presence of two bladders.|HPO|N|
C0238027|A rare form of botulism, a rare acquired neuromuscular junction disease with descending flaccid paralysis caused by botulinum neurotoxins (BoNTs). It is due to intestinal colonization by <i>Clostridium botulinum</i> leading to toxin-mediated infection with toxemia.|ORDO|N|
C0238029|A finding indicating the presence of an ependymal tumor in the brain.|NCI|N|
C0238031|Phyllodes tumour of the breast is a rare fibroepithelial neoplasm accounting for less than 1% of all mammary tumours, usually presenting in adult females (most frequently between the ages of 35-55 years), ranging from benign to malignant and often presenting with well circumscribed mobile masses that grow rapidly and sometimes with additional non-specific symptoms such as dilated skin veins, nipple retraction, skin ulcers, palpable axillary lymphadenopathy or blue discoloration of the skin.|SNOMEDCT_US|N|
C0238032|A benign, circumscribed and usually encapsulated lesion of the breast. It contains all the components of the breast tissue.|NCI|N|
C0238033|A rare malignant tumor of the breast, affecting mostly older men. It accounts for less than 1% of all malignancies in men. The most common histologic type is invasive ductal carcinoma. Most patients are treated with mastectomy.|NCI|N|
C0238034|Intraductal papilloma is a benign tumor found within breast ducts. The abnormal proliferation of ductal epithelial cells causes growth. A solitary intraductal papilloma is usually found centrally posterior to the nipple affecting the central duct. Multiple intraductal papillomas are located peripherally, found in any breast quadrant affecting the peripheral ducts.|HPO|N|
C0238036|Granulomatous inflammation that surrounds the bronchi and bronchioles, replacing bronchial walls and mucosa. In bronchocentric granulomatosis, the lumen of the airway contains necrotic debris, and palisaded histiocytes surround the lumen.|HPO|N|
C0238044|Hypertrophic cardiomyopathy with an symmetrical and concentric pattern of hypertrophy.|HPO|N|
C0238045|An abnormal connection between a carotid artery and the cavernous sinus.|HPO|N|
C0238051|Inflammation of the blood vessels within the brain.|HPO|N|
C0238052|Cerebrotendinous xanthomatosis (CTX) is a lipid storage disease characterized by infantile-onset diarrhea, childhood-onset cataract, adolescent- to young adult-onset tendon xanthomas, and adult-onset progressive neurologic dysfunction (dementia, psychiatric disturbances, pyramidal and/or cerebellar signs, dystonia, atypical parkinsonism, peripheral neuropathy, and seizures). Chronic diarrhea from infancy and/or neonatal cholestasis may be the earliest clinical manifestation. In approximately 75% of affected individuals, cataracts are the first finding, often appearing in the first decade of life. Xanthomas appear in the second or third decade; they occur on the Achilles tendon, the extensor tendons of the elbow and hand, the patellar tendon, and the neck tendons. Xanthomas have been reported in the lung, bones, and central nervous system. Some individuals show cognitive impairment from early infancy, whereas the majority have normal or only slightly impaired intellectual function until puberty; dementia with slow deterioration in intellectual abilities occurs in the third decade in more than 50% of individuals. Neuropsychiatric symptoms such as behavioral changes, hallucinations, agitation, aggression, depression, and suicide attempts may be prominent. Pyramidal signs (i.e., spasticity) and/or cerebellar signs almost invariably become evident between ages 20 and 30 years. The biochemical abnormalities that distinguish CTX from other conditions with xanthomas include high plasma and tissue cholestanol concentration, normal-to-low plasma cholesterol concentration, decreased chenodeoxycholic acid (CDCA), increased concentration of bile alcohols and their glyconjugates, and increased concentrations of cholestanol and apolipoprotein B in cerebrospinal fluid.|GeneReviews|N|
C0238062|Chronic intestinal pseudo-obstruction (CIPO) is a rare gastrointestinal motility disorder characterized by recurring episodes resembling mechanical obstruction in the absence of organic, systemic, or metabolic disorders, and without any physical obstruction being detected by X-ray or during surgery. CIPO develops predominantly in children and may be present at birth.|ORDO|N|
C0238065|Biliary cirrhosis due to obstruction of the extrahepatic ducts.|NCI|N|
C0238067|A type of microscopic colitis of unknown etiology. It is characterized by the presence of collagen deposits in the lamina propria of the colonic mucosa. Patients present with chronic watery diarrhea. Colonoscopy reveals normal-appearing mucosa. The diagnosis is made with the microscopic examination of the colonic biopsy samples.|NCI|N|
C0238074|Heart disease which occurs as a result of a primary pulmonary disease. Cor pulmonale most often manifests as right ventricular hypertrophy; it can also lead to right ventricular failure.|NCI|N|
C0238093|The narrowing or partial blockage of a portion of the duodenum.|HPO|N|
C0238096|Paradoxical embolism describes the passage of a venous or right-sided cardiac thrombus into the arterial or systemic circulation.|HPO|N|
C0238099|A rare chronic encephalitis developing up to several years after congenital rubella virus infection or rubella infection in childhood, characterized by slowly progressive, wide-spread neurological symptoms, like cognitive decline, cerebellar ataxia, spasticity, and seizures, amongst others. Progredient deterioration of the neurological disease eventually leads to the death of the patient.|ORPHANET|N|
C0238103|An acute, usually bacterial infection affecting the endometrium. It is characterized by the presence of neutrophils or microabscesses in the endometrial glands. Symptoms include fever, lower abdominal pain, and vaginal discharge.|NCI|N|
C0238104|A non-granulomatous or granulomatous chronic inflammation of the endometrium. Causes include sexually transmitted pathogens and gynecological procedures. Patients may present with irregular bleeding.|NCI|N|
C0238106|An infection of the colon (colitis) by clostridium difficile.|HPO|N|
C0238111|A rare, severe early-onset developmental epileptic encephalopathy characterized by the triad of intellectual impairment, multiple seizure types, and typical electroencephalography (EEG) abnormalities.|ORDO|N|
C0238112|Esophagitis resulting from exposure to herpes virus.|NCI|N|
C0238114|A benign smooth muscle neoplasm arising from the lower part of the esophagus. It is the most common mesenchymal neoplasm of the esophagus. Dysphagia is a frequent clinical symptom.|NCI|N|
C0238115|The occurrence of the full-thickness tear (perforation) of the wall of the esophagus.|HPO|N|
C0238117|The state of being a eunuch, a male without testes or whose testes failed to develop. It is characterized by the lack of mature male germ cells and testicular hormones.|MONDO|N|
C0238120|An acquired coagulation disorder characterized by the partial or complete absence of factor XIII activity in the blood.|NCI|N|
C0238122|Carcinoma that originates in the Fallopian tube. It may be located in the wall or within the lumen as a growth attached to the wall by a stalk.|HPO|N|
C0238124|Infection of the deep skin and subcutaneous tissues and necrosis of the fascia. It is caused by bacteria including group A streptococcus, Staphylococcus aureus and Clostridium perfringens. It may develop following trauma and invasive procedures.|NCI|N|
C0238127|An abnormal communication between the terminus of a coronary artery, bypassing the myocardial capillary bed and entering any segment of the systemic or pulmonary circulation.|HPO|N|
C0238132|An abnormal communication between a bronchus and the pleural cavity.|NCI|N|
C0238137|A polypoid epithelial neoplasm that arises from the gallbladder. According to the neoplastic growth pattern, it is classified as tubular, tubulopapillary, or papillary.|NCI|N|
C0238141|A carcinoma of the oral cavity that arises from the upper or lower gingiva.|NCI|N|
C0238143|Inflammation of a specific segment of glomeruli, which is associated with subacute bacterial endocarditis, and frequently produces microscopic hematuria without azotemia.|NCI|N|
C0238152|A malignant soft tissue neoplasm that arises from the heart.|HPO|N|
C0238154|Hemorrhage occurring between the dura mater and the skull.|HPO|N|
C0238158|Hemochromatosis that is not inherited and is caused by iron overload from excessive consumption, multiple transfusions, or disorders of erythropoiesis.|NCI|N|
C0238159|Hemoglobin E disease (HbE) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin E, with a generally benign, asymptomatic presentation.|ORDO|N|
C0238183|Atrophic thyroiditis is an organ-specific autoimmune disease characterized by thyroid autoantibodies, functional hypothyroidism, and absence of goiter.|MONDO|N|
C0238190|Sporadic inclusion body myositis (IBM) is the most common age-related muscle disease in the elderly that results in severe disability. Although traditionally considered an inflammatory myopathy, it is now considered to be more consistent with a myodegenerative disease (Sugarman et al., 2002; Askanas and Engel, 2006).|OMIM|N|
C0238196|A carcinoma arising from the small intestine. The vast majority are adenocarcinomas. The remaining cases are adenosquamous, squamous, or undifferentiated carcinomas.|NCI|N|
C0238197|A benign smooth muscle neoplasm arising from the small intestine. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.|NCI|N|
C0238198|Gastrointestinal stromal tumors are mesenchymal tumors found in the gastrointestinal tract that originate from the interstitial cells of Cajal, the pacemaker cells that regulate peristalsis in the digestive tract. Approximately 70% of GISTs develop in the stomach, 20% in the small intestine, and less than 10% in the esophagus, colon, and rectum. GISTs are typically more cellular than other gastrointestinal sarcomas. They occur predominantly in patients who are 40 to 70 years old but in rare cases may occur in younger persons (Miettinen et al., 1999, 1999).
GISTs are also seen as a feature in several syndromes, e.g., neurofibromatosis-1 (NF1; 162200) and GIST-plus syndrome (175510).|OMIM|N|
C0238207|A developmental defect in which a kidney is located in an abnormal anatomic position.|HPO|N|
C0238208|A usually aggressive malignant neoplasm arising from the kidney. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern.|NCI|N|
C0238210|An abnormality of the normal developmental rotation of the kidney leading to an abnormal orientation of the kidney.|HPO|N|
C0238212|A perinephric abscess is a collection of suppurative material in the perinephric space (i.e., the connective and adipose tissues surrounding the kidney).|HPO|N|
C0238216|A teratoma located in a kidney.|HPO|N|
C0238217|A sudden immune response occurring after transplantation, directed against donor kidney alloantigens.|NCI|N|
C0238218|A tear in the cartilaginous pad (meniscus) of the knee.|HPO|N|
C0238229|A partial or complete breakage of the larynx.|HPO|N|
C0238239|A rare non-amyloid monoclonal immunoglobulin deposition disease characterized by deposition of abnormal immunoglobulin light chains in the kidneys, resulting in nephrotic syndrome and renal failure. Symptomatic extrarenal deposition is uncommon, although hepatic, cardiac, and neural deposits have been reported. The condition frequently occurs in association with multiple myeloma or in patients with M protein and marrow plasma cells at monoclonal gammopathy of undetermined significance levels.|ORDO|N|
C0238246|A congenital vascular malformation in the liver composed of masses of blood vessels that are atypical or irregular in arrangement and size.|HPO|N|
C0238254|The spread of a carcinoma to the lung. This may be from a primary lung carcinoma, or from a carcinoma at a distant anatomic site.|NCI|N|
C0238258|Extensive infiltration of the lymphatic vessels by cancer cells, resulting in widespread cancer dissemination. The lymphatic vessels appear as palpable, cord-like structures, especially in skin areas overlying the carcinoma.|NCI|N|
C0238265|A rare neurologic disease most prominently characterized by progressive demyelination and necrosis of the corpus callosum. It is in most cases associated with chronic alcoholism and malnutrition. Speed of onset and clinical presentation are very variable with a range of possible symptoms, including dementia, seizures, gait abnormalities, dysarthria, aphasia, athetosis, as well as stupor and coma.|ORDO|N|
C0238284|Acute mountain sickness is characterized by altitude sickness that affects otherwise healthy persons, develops within hours after arriving at altitude, and results in functional impairment from symptoms that may include headache, anorexia, nausea, vomiting, dizziness, fatigue, and sleep disturbances.|MONDO|N|
C0238286|Mucolipidosis IV (MLIV) is an ultra-rare lysosomal storage disorder characterized by severe psychomotor delay, progressive visual impairment, and achlorhydria. Individuals with MLIV typically present by the end of the first year of life with delayed developmental milestones (due to a developmental brain abnormality) and impaired vision (resulting from a combination of corneal clouding and retinal degeneration). By adolescence, all individuals with MLIV have severe visual impairment. A neurodegenerative component of MLIV has become more widely appreciated, with the majority of individuals demonstrating progressive spastic quadriparesis and loss of psychomotor skills starting in the second decade of life. About 5% of individuals have atypical MLIV, manifesting with less severe psychomotor impairment, but still exhibiting progressive retinal degeneration and achlorhydria.|GeneReviews|N|
C0238288|Facioscapulohumeral muscular dystrophy (FSHD) typically presents with weakness of the facial muscles, the stabilizers of the scapula, or the dorsiflexors of the foot. Severity is highly variable. Weakness is slowly progressive and approximately 20% of affected individuals eventually require a wheelchair. Life expectancy is not shortened.|GeneReviews|N|
C0238300|Narrowing of a tear duct (lacrimal duct).|HPO|N|
C0238304|Chronic inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules.|HPO|N|
C0238305|Nephropathy secondary to sickle cell disease, characterized by the presence of sickled erythrocytes in the renal medullary vessels, renal ischemia and microinfarctions, renal papillary necrosis, and renal tubular abnormalities.|NCI|N|
C0238309|Neuropathy that is caused by inadequate blood supply.|NCI|N|
C0238324|A neoplasm that arises from the ovary and originates from germ cells. Representative examples include teratoma, embryonal carcinoma, yolk sac tumor, and dysgerminoma.|NCI|N|
C0238330|A rare form of Paget disease that arises from the scrotum. It is usually not associated with an underlying malignancy. It presents as a red plaque or raised lesion. Microscopically, it is characterized by the presence of the typical Paget cells which are large, round cells with abundant cytoplasm and prominent nuclei.|NCI|N|
C0238334|A circumscribed area of pus or necrotic debris in the parenchyma of the pancreas.|HPO|N|
C0238337|A cystic adenocarcinoma that arises from the pancreas. It includes the acinar cell and serous cystadenocarcinoma subtypes.|NCI|N|
C0238339|PRSS1-related hereditary pancreatitis (HP) is characterized by episodes of acute pancreatitis (AP) and recurrent acute pancreatitis (RAP: >1 episode of AP), with frequent progression to chronic pancreatitis (CP). Manifestations of acute pancreatitis can range from vague abdominal pain lasting one to three days to severe abdominal pain lasting days to weeks and requiring hospitalization.|GeneReviews|N|
C0238348|A rare urogenital tumor characterized by origin from squamous epithelial cells of the penis, most commonly the glans or inner surface of the prepuce. Macroscopically, the tumors can appear either papillary or flat and ulcerating. Histological subtypes include usual squamous cell carcinoma as the most common type, as well as basaloid, warty, verrucous, papillary, and mixed carcinomas. Patients may initially be asymptomatic but present with itching, bleeding, discharge, foul odor, and pain, as the disease progresses. Regional lymph node involvement is common, while distant metastases occur only late in the disease. Risk factors include HPV infection, smoking, poor hygiene, and HIV infection. Neonatal circumcision is implicated as strongly protective.|ORDO|N|
C0238352|A malignant mesenchymal neoplasm that arises from the penis. Representative examples include Kaposi sarcoma, leiomyosarcoma, and angiosarcoma.|NCI|N|
C0238357|Hyperkalemic periodic paralysis (hyperPP) is characterized by attacks of flaccid limb weakness (which may also include weakness of the muscles of the eyes, throat, breathing muscles, and trunk), hyperkalemia (serum potassium concentration >5 mmol/L) or an increase of serum potassium concentration of at least 1.5 mmol/L during an attack of weakness and/or provoking/worsening of an attack by oral potassium intake, normal serum potassium between attacks, and onset before age 20 years. In approximately half of affected individuals, attacks of flaccid muscle weakness begin in the first decade of life, with 25% reporting their first attack at age ten years or older. Initially infrequent, the attacks then increase in frequency and severity over time until approximately age 50 years, after which the frequency of attacks declines considerably. The major attack trigger is eating potassium-rich foods; other triggers include: cold environment; rest after exercise, stress, or fatigue; alcohol; hunger; and changes in activity level. A spontaneous attack commonly starts in the morning before breakfast, lasts for 15 minutes to one hour, and then passes. Individuals with hyperPP frequently have myotonia (muscle stiffness), especially around the time of an episode of weakness. Paramyotonia (muscle stiffness aggravated by cold and exercise) is present in about 45% of affected individuals. More than 80% of individuals with hyperPP older than age 40 years report permanent muscle weakness and about one third develop a chronic progressive myopathy.|GeneReviews|N|
C0238358|Hypokalemic periodic paralysis (hypoPP) is a condition in which affected individuals may experience paralytic episodes with concomitant hypokalemia (serum potassium <3.5 mmol/L). The paralytic attacks are characterized by decreased muscle tone (flaccidity) more marked proximally than distally with normal to decreased deep tendon reflexes. The episodes develop over minutes to hours and last several minutes to several days with spontaneous recovery. Some individuals have only one episode in a lifetime; more commonly, crises occur repeatedly: daily, weekly, monthly, or less often. The major triggering factors are cessation of effort following strenuous exercise and carbohydrate-rich evening meals. Additional triggers can include cold, stress/excitement/fear, salt intake, prolonged immobility, use of glucosteroids or alcohol, and anesthetic procedures. The age of onset of the first attack ranges from two to 30 years; the duration of paralytic episodes ranges from one to 72 hours with an average of nearly 24 hours. Long-lasting interictal muscle weakness may occur in some affected individuals and in some stages of the disease and in myopathic muscle changes. A myopathy may occur independent of paralytic symptoms and may be the sole manifestation of hypoPP.|GeneReviews|N|
C0238377|Pneumoconiosis caused by exposure to talc. It is characterized by fibrosis and granulomatous changes in the lung parenchyma. Chest x-rays reveal diffuse lung opacities and pleural abnormalities.|NCI|N|
C0238378|Interstitial lung disease (ILD), or pneumonitis, is a heterogeneous group of disorders characterized pathologically by expansion of the interstitial compartment of the lung by inflammatory cells. Fibrosis occurs in many cases (Visscher and Myers, 2006). See also interstitial lung disease-1 (ILD1; 619611).
Desquamative interstitial pneumonitis (DIP) was originally described as a pathologic entity by Liebow et al. (1965). Lung biopsy shows diffuse and uniform filling of alveoli by clusters of cells which Liebow et al. (1965) speculated to be 'desquamated pneumocytes.' Since then, these cells have been shown primarily to be pigmented alveolar macrophages. Other features include thickened alveolar septa with an infiltrate of inflammatory cells and plump, cuboidal type II pneumocytes. Mild collagen deposition without architectural distortion or honeycombing may be present. Different forms of ILD represent pathologic classifications based on histologic patterns rather than clinical diagnoses and may occur in a variety of clinical contexts (Visscher and Myers, 2006).
Although DIP occurs most often as a sporadic disorder in adults during the third to fifth decade of life and is highly associated with smoking (Carrington et al., 1978), reports of a familial form with onset in infancy and early death suggest a genetic basis (Sharief et al., 1994).
Cases of DIP reported in infants are often more severe and refractory to treatment than those reported in adults (Nogee et al., 2001).|OMIM|N|
C0238393|A rare malignant mesenchymal neoplasm that arises from the prostate gland. Representative examples include leiomyosarcoma, rhabdomyosarcoma, and stromal sarcoma.|NCI|N|
C0238394|Hermaphroditism refers to a discrepancy between the morphology of the gonads and that of the external genitalia. In female pseudohermaphroditism, the genotype is female (XX) and the gonads are ovaries, but the external genitalia are virilized.|HPO|N|
C0238395|Hermaphroditism refers to a discrepancy between the morphology of the gonads and that of the external genitalia. In male pseudohermaphroditism, the genotype is male (XY) and the external genitalia are imcompletely virilized, ambiguous, or complete female. If gonads are present, they are testes.|HPO|N|
C0238397|An abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches.|HPO|N|
C0238399|Infiltration of smooth muscle-like cells in lymph vessels as well as the lung (pleura, alveolar septa, bronchi, pulmonary vessels and lymphatics as well as lymph nodes, especially in posterior mediastinum and retroperitoneum). Focal emphysema can develop because of airway narrowing, and the thoracic duct may be obliterated. Pulmonary lymphangiomyomatosis may lead to multiple small cysts with a hamartomatous proliferation of smooth muscle in their walls.|HPO|N|
C0238402|Pycnodysostosis is characterized by short-limbed short stature, typical facial appearance (convex nasal ridge and small jaw with obtuse mandibular angle), osteosclerosis with increased bone fragility, acroosteolysis of the distal phalanges, delayed closure of the cranial sutures, and dysplasia of the clavicle. In affected individuals, the facial features become more prominent with age, likely due to progressive acroosteolysis of the facial bones, but can usually be appreciated from early childhood, particularly the small jaw and convex nasal ridge. Additional features include dental and nail anomalies. Intelligence is typically normal with mild psychomotor difficulties reported in some individuals.|GeneReviews|N|
C0238409|Squamous cell carcinoma that affects the renal pelvis.|NCI|N|
C0238419|An acute necrotic infection of the SCROTUM; PENIS; or PERINEUM. It is characterized by scrotum pain and redness with rapid progression to gangrene and sloughing of tissue. Fournier gangrene is usually secondary to perirectal or periurethral infections associated with local trauma, operative procedures, or urinary tract disease.|MONDO|N|
C0238425|broad term used to describe several different acute conditions occurring with sickle cell disease, including aplastic crisis, hemolytic crisis, and vasoocclusive crisis.|CSP|N|
C0238432|An ependymoma that arises from the spinal cord. It is characterized by the absence of MYCN gene amplification and frequent loss of chromosome 22q and mutations of NF2.|NCI|N|
C0238434|Spinal epidural abscess (SEA) is caused by a suppurative infection in the epidural space. The mass effect of the abscess can compress and reduce blood flow to the spinal cord, conus medullaris, or cauda equina.|HPO|N|
C0238436|A partial or complete breakage of the sternum.|HPO|N|
C0238440|A rare benign smooth muscle neoplasm arising from the wall of the stomach. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. Unlike gastrointestinal stromal tumors, gastric leiomyomas are by definition negative for CD34 and CD117 (C-KIT).|NCI|N|
C0238442|Separation of the PUBIC SYMPHYSIS. It is an uncommon complication of CHILDBIRTH causing postpartum PAIN, but it can also arise from other causes.|MSH|N|
C0238448|A malignant germ cell neoplasm arising from the testis. It is composed of primitive epithelial cells arranged in solid, papillary, and glandular configurations. Most patients present with a testicular mass, which may be associated with pain. More than half of the patients have metastatic disease at diagnosis. The form of treatment following radical orchiectomy is stage dependent.|NCI|N|
C0238449|A malignant germ cell tumor arising from the testis. It represents the rarest of the testicular germ cell tumors. Histologically it is characterized by the presence of syncytiotrophoblasts and cytotrophoblasts.|NCI|N|
C0238451|The presence of a teratoma of the testis.|HPO|N|
C0238454|Formation or presence of a blood clot (thrombus) in the cavernous sinus of the brain. Infections of the paranasal sinuses and adjacent structures, craniocerebral trauma, and thrombophilia are associated conditions. Clinical manifestations include dysfunction of cranial nerves iii, iv, V, and vi, marked periorbital swelling, chemosis, fever, and visual loss. (From Adams et al., Principles of Neurology, 6th ed, p711)|MONDO|N|
C0238457|The presence of a thrombus (blood clot) in the major renal veins or its tributaries, generally leading to passive congestion that develops causes the affected kidney to swell and become engorged, leading to degeneration of nephrons and causing symptoms of flank pain, hematuria, and decreased urine output.|HPO|N|
C0238461|A disorder that represents the ultimate dedifferentiation step of thyroid tumorigenesis and is one of the most severe cancers in humans.|ORDO|N|
C0238462|The presence of a medullary carcinoma of the thyroid gland.|HPO|N|
C0238463|The presence of a papillary adenocarcinoma of the thyroid gland.|HPO|N|
C0238467|A lipoma localized to the tongue. May present as a nontender, soft, spherical mass of the tongue.|HPO|N|
C0238478|Transient erythroblastopenia of childhood is a pure red cell aplasia that occurs in a previously healthy child, most commonly between 6 months and 4 years of age. The course is characterized by a complete recovery, usually within 1 to 2 months after diagnosis. In most cases no therapy is necessary, although some children may need red cell transfusion (summary by Gustavsson et al., 2002).|OMIM|N|
C0238495|A rare congenital abnormality resulting in the URETER passing dorsal to and being obstructed by the INFERIOR VENA CAVA.|MSH|N|
C0238502|The prolapse of the female urethra into the vagina.|HPO|N|
C0238506|A developmental defect resulting in an obstructing membrane in the posterior male urethra.|HPO|N|
C0238517|A type of adenocarcinoma originating in the vagina and characterized by large cells with moderate to abundant clear cytoplasm.|HPO|N|
C0238518|Vaginal squamous cell carcinoma in which information on the p16 immunohistochemistry or HPV testing status is not available.|NCI|N|
C0238519|A malignant mesenchymal neoplasm that arises from the vagina. Representative examples include botryoid-type embryonal rhabdomyosarcoma, leiomyosarcoma, and endometrioid stromal sarcoma.|NCI|N|
C0238525|A malignant mesenchymal neoplasm that arises from the vulva. Representative examples include childhood botryoid-type embryonal rhabdomyosarcoma, alveolar soft part sarcoma, and leiomyosarcoma.|NCI|N|
C0238532|The anterior abdominal wall is sunken and presents a concave rather than a convex contour.|HPO|N|
C0238547|A voluntary contraction of the abdominal wall musculature to avoid pain.|HPO|N|
C0238577|An incomplete closure of the abdominal wall.|HPO|N|
C0238590|A rare premature aging syndrome characterized by atrophy of the skin and subcutaneous tissue involving predominantly the distal parts of the extremities, resulting in prematurely aged appearance of the hand and feet. Another prominent feature is the characteristic facies with hollow cheeks, beaked nose, and owl-like eyes. Additional, non-dermatological manifestations, like bone anomalies have been described in some patients. Mode of inheritance has not been definitively established.|ORPHANET|N|
C0238591|The absence of all phalanges of all the digits of a limb and the associated soft tissues.|HPO|N|
C0238621|An increased concentration of an amino acid in the urine.|HPO|N|
C0238637|Pain in and around the anus or rectum (perianal region).|HPO|N|
C0238651|Clonus is an involuntary tendon reflex that causes repeated flexion and extension of the foot. Ankle clonus is tested by rapidly flexing the foot upward.|HPO|N|
C0238656|An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the ankle.|HPO|N|
C0238705|Increase in size of the left atrium.|HPO|N|
C0238729|An abnormal growth in the axilla.|NCI|N|
C0238755|A deformity of the posterior skull with bulging of the midportion of the occipital bone that is often associated with a benign variant of the mendosal suture.|HPO|N|
C0238760|Environmental, occupational or consumer-based exposure to benzene, benzene-containing compounds or benzene derivatives.|NCI|N|
C0238765|Reduced intensity of the biceps tendon reflex.|HPO|N|
C0238769|History of exposure to birds.|HPO|N|
C0238775|A swelling or enlargment localized to the urinary bladder. The word mass is usually used at an early stage of the diagnostic workup before the precise nature of the swelling has been determined.|HPO|N|
C0238777|The frequency with which the eye is blinked is below the lower limit of normal.|HPO|N|
C0238792|A localized pathological or traumatic structural change, damage, deformity, or discontinuity of bone.|NCI|N|
C0238800|A laboratory test result indicating abnormally high numbers of megakaryocytes in the bone marrow.|NCI|N|
C0238801|Abnormal increased number of megaloblasts in the bone marrow.|HPO|N|
C0238814|A hemangioma arising from the brain.|NCI|N|
C0238844|Diminished breath sounds noted during auscultation.|NCI|N|
C0238898|Orange or yellow discoloration of the skin caused by excessive deposits of carotene.|NCI|N|
C0238995|The sensation of chest pain described as a stabbing feeling.|NCI|N|
C0239043|An abnormal reduction in the ability to masticate (chew), i.e., in the ability to crush and ground food in preparation for swallowing.|HPO|N|
C0239064|Pain in the jaw or ear induced by chewing or otherwise moving the jaw.|HPO|N|
C0239067|Reduced ability to climb stairs.|HPO|N|
C0239105|The presence of small (ca. 0.5-1.0 mm) dilated blood vessels near the surface of the mucous membranes of the conjunctiva.|HPO|N|
C0239119|A conical projection of the anterior or posterior surface of the lens, occurring as a developmental anomaly.|HPO|N|
C0239134|A cough that produces phlegm or mucus.|HPO|N|
C0239137|Coxa valga is a deformity of the hip in which the angle between the femoral shaft and the femoral neck is increased compared to age-adjusted values (about 150 degrees in newborns gradually reducing to 120-130 degrees in adults).|HPO|N|
C0239154|A type of crying in an abnormally high-pitched voice.|HPO|N|
C0239161|Inflammation of the fingers or toes. This may be accompanied by pain and discoloration.|NCI|N|
C0239174|Delayed tooth eruption, which can be defined as tooth eruption more than 2 SD beyond the mean eruption age.|HPO|N|
C0239181|Repeated episodes of diarrhea separated by periods without diarrhea.|HPO|N|
C0239223|Painful sensation in the external ear region.|NCI|N|
C0239233|The condition of being unable to eat a full meal because of a feeling of fullness (satiety), or or feeling very full after eating only a small amount of food.|HPO|N|
C0239234|Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.|HPO|N|
C0239242|An electrocardiographic finding in which the T wave appears increased in amplitude and cresting at a point.|NCI|N|
C0239266|An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the elbow.|HPO|N|
C0239272|A sensation of tightness in the elbow joint when attempting to move it, especially after a period of inactivity.|HPO|N|
C0239293|Bleeding originating from the esophagus.|NCI|N|
C0239295|Candida infections of the esophagus are considered opportunistic infections and are seen most commonly in immunosuppressed patients, the most common symptoms being dysphagia, odynophagia, and retrosternal pain.|HPO|N|
C0239296|Blockage of the normal flow of the contents in the esophagus.|NCI|N|
C0239340|An abnormal accumulation of excess fluid in the lower extremity resulting in swelling of the feet and extending upward to the lower leg.|HPO|N|
C0239343|Reddening of the palmar and plantar regions of the body with occasional involvement of the distal extremities.|NCI|N|
C0239377|An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the arm.|HPO|N|
C0239399|Limb shortening because of underdevelopment of one or more bones of the extremities.|HPO|N|
C0239460|A benign nevus occurring in the eyelid.|NCI|N|
C0239479|The facial appearance is more circular than usual as viewed from the front.|HPO|N|
C0239483|Bluish discoloration of one or more regions of the face.|HPO|N|
C0239488|Redness of the skin of the face, caused by hyperemia of the capillaries in the lower layers of the skin.|HPO|N|
C0239548|Fasciculations or fibrillation affecting the tongue muscle.|HPO|N|
C0239571|Fetor hepaticus is the characteristic breath of patients with severe parenchymal liver disease, which has been said to resemble the odor of a mixture of rotten eggs and garlic.|HPO|N|
C0239573|Body temperature of 104 degrees Fahrenheit (40 degrees Celsius) or higher.|NCI|N|
C0239574|Mild fever that does not exceed 38.5 degrees centigrade.|HPO|N|
C0239589|An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the finger.|HPO|N|
C0239596|A sensation of tightness in a finger joint when attempting to move it, especially after a period of inactivity.|HPO|N|
C0239598|Enlargement of the soft tissues of one or more fingers.|HPO|N|
C0239653|Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching over the skin of the foot.|HPO|N|
C0239676|An abnormally increased height of the forehead.|HPO|N|
C0239707|A hemangioma arising from any part of the digestive system.|NCI|N|
C0239737|A clinical term that indicates the presence of a white patch on the surface of the gum which cannot be characterized as any other disease. It may be a precancerous condition and in most cases histologic examination reveals keratosis.|NCI|N|
C0239739|Painful sensation in the gingival region.|NCI|N|
C0239778|An abnormal green color of urine.|HPO|N|
C0239783|An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the groin region.|HPO|N|
C0239804|Hypopigmented hair that appears white.|HPO|N|
C0239815|An abnormal hand posture in which the hands are clenched to fists. All digits held completely flexed at the metacarpophalangeal and interphalangeal joints. In prenatal sonography of the fetal clenched hand, the index finger overlaps a clenched fist formed by the other digits. The proximal interphalangeal articulation of the index finger is flexed and ulnarly deviated, and the thumb is adducted.|HPO|N|
C0239830|Muscular atrophy involving the muscles of the hand.|HPO|N|
C0239831|Reduced strength of the musculature of the hand.|HPO|N|
C0239833|An unpleasant sensation characterized by physical discomfort localized to the hand.|HPO|N|
C0239836|Tingling (often refered to as a pins and needles feeling) and numbness in the hand.|HPO|N|
C0239842|An unintentional, oscillating to-and-fro muscle movement affecting the hand.|HPO|N|
C0239849|A very rare and usually lethal autosomal recessive inherited disorder of the skin caused by mutations in the ABCA12 gene. It is characterized by the presence of hard and thick skin. There are diamond-like plates formed in the skin which are separated by fissures.|NCI|N|
C0239882|An unintentional, oscillating to-and-fro muscle movement affecting head movement.|HPO|N|
C0239935|An elevation above the normal ratio of the volume of red blood cells to the total volume of blood.|HPO|N|
C0239937|Microscopic hematuria detected by dipstick or microscopic examination of the urine.|HPO|N|
C0239941|Hemoglobin F (HbF) contains two globin alpha chains and two globin gamma chains. It is the main form of hemoglobin in the fetus during the last seven months of intrauterine development and in the half year of postnatal life. In adults it normally makes up less than one percent of all hemoglobin. This term refers to an increase in HbF above this limit. In beta thalassemia major, it may represent over 90 percent of all hemoglobin, and in beta thalassemia minor it may make up between 0.5 to 4 percent.|HPO|N|
C0239946|The presence of excessive fibrous connective tissue in the liver. Fibrosis is a reparative or reactive process.|HPO|N|
C0239949|The examiner applies firm but persistent pressure over the liver for 10 seconds while observing the mean jugular venous pressure. Normally there is either no rise or only a transient (i.e., 2 to 3 sec) rise in mean jugular venous pressure. A sustained increase in the mean venous pressure until abdominal compression is released is abnormal and indicates impaired right heart function. This abnormal response is called hepatojugular reflux.|HPO|N|
C0239957|A sensation of tightness in the hip joint when attempting to move it, especially after a period of inactivity.|HPO|N|
C0239981|Reduction in the concentration of albumin in the blood.|HPO|N|
C0239984|An abnormally increased level of immunoglobulin A in blood.|HPO|N|
C0239989|An abnormally decreased level of immunoglobulin M (IgM) in blood.|HPO|N|
C0239998|Increased susceptibility to infections.|HPO|N|
C0240007|An abnormal growth in the groin.|NCI|N|
C0240017|Lack of strength of the intercostal muscles, i.e., of the muscle groups running along the ribs that create and move the chest wall.|HPO|N|
C0240059|Bleeding into the ventricles of the brain.|HPO|N|
C0240063|A coloboma of the iris.|HPO|N|
C0240066|Subnormal concentrations of iron resulting from low iron intake, inefficient iron absorption in the gastrointestinal tract, or increased iron loss.|NCI|N|
C0240083|An abnormal structure or form of the joints, i.e., one or more of the articulations where two bones join.|HPO|N|
C0240129|A sensation of tightness in the knee joint when attempting to move it, especially after a period of inactivity.|HPO|N|
C0240164|A benign exophytic neoplasm that arises from the larynx, usually the true vocal cords. It is related to human papillomavirus infection and may arise as a single or multiple lesions. It is characterized by the presence of a connective tissue core covered by stratified squamous epithelium. Hoarseness is the presenting symptom. Transformation to carcinoma is rare.|NCI|N|
C0240182|White discoloration of the nails.|HPO|N|
C0240194|Bluish discoloration of the lips.|HPO|N|
C0240200|A severe crack in a lip. A lip fissure may be painful, may bleed and often is a recurring manifestation.|HPO|N|
C0240211|Enlargement of the lip typically due to fluid buildup or inflammation.|HPO|N|
C0240215|An unintentional, oscillating to-and-fro muscle movement affecting the lip.|HPO|N|
C0240225|A space-occupying pathologic process that affects the liver parenchyma.|NCI|N|
C0240231|An increased tendency to fractures of the long bones (Mainly, the femur, tibia, fibula, humerus, radius, and ulna).|HPO|N|
C0240233|Speech characterized by weak (e.g. tangential/circumstantial) or absent (e.g. word salad) connections between ideas.|HPO|N|
C0240309|Abnormally anterior positioning of the infraorbital and perialar regions, or increased convexity of the face, or increased nasolabial angle. The midface includes the maxilla, the cheeks, the zygomas, and the infraorbital and perialar regions of the face|HPO|N|
C0240310|Abnormally small dimension of the Maxilla. Usually creating a malocclusion or malalignment between the upper and lower teeth or resulting in a deficient amount of projection of the base of the nose and lower midface region.|HPO|N|
C0240318|A mass in the mediastinum seen on chest imaging is defined as an opacity greater than 3 cm in diameter (without regard to contour, border, or density characteristics).|HPO|N|
C0240340|Decreased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD below mean. Alternatively, an apparently decreased maximum width of tooth.|HPO|N|
C0240341|Abnormally small-sized handwriting is formally defined as an impairment of fine motor skills, which mainly manifests as a progressive or stable reduction in amplitude during a writing task.|HPO|N|
C0240344|A form of reactive arthritis in which the inflammation moves between joints.|NCI|N|
C0240369|An erythematous lesion of the oral mucosa may result from a variety of tissue alterations, including inflammation, erythrocyte extravasation, and atrophy or reduced keratinization of the surface epithelium.|HPO|N|
C0240371|A clinical term that indicates the presence of a white patch on the mucous membrane in the mouth which cannot be characterized as any other disease. It may be a precancerous condition and in most cases histologic examination reveals keratosis.|NCI|N|
C0240379|A facial appearance characterized by a permanently or nearly permanently opened mouth.|HPO|N|
C0240392|A hemangioma arising from the mucous membranes.|NCI|N|
C0240406|Murphy's sign is elicited in patients with acute cholecystitis by asking the patient to take in and hold a deep breath while palpating the subcostal region. In practice, Murphy's sign is performed by palpating the subcostal region during inspiration. If pain is elicited and the patient suddenly stops their inspiratory effort, a positive Murphy's sign has been elicited.|HPO|N|
C0240412|Blood clot formed within muscle tissue following leakage of blood into the tissue.|HPO|N|
C0240414|Underdevelopment of the musculature.|HPO|N|
C0240444|Thickened nails.|MSH|N|
C0240464|Swelling due to an accumulation of excessive fluid in the neck.|NCI|N|
C0240479|Decreased strength of the neck musculature.|HPO|N|
C0240521|Pain or discomfort produced by touching the nipple.|HPO|N|
C0240538|Nasal ridge curving anteriorly to an imaginary line that connects the nasal root and tip. The nose appears often also prominent, and the columella low.|HPO|N|
C0240543|Increased volume and globular shape of the anteroinferior aspect of the nose.|HPO|N|
C0240547|Any structural change to the nose that results in a defect, which may be cosmetic, functional, or both. The deformity may be congenital, as in the cases of cleft palate, a mass, or defective cartilage, or acquired, as in a fracture, a hematoma, mass, or scarring from a previous surgery.|NCI|N|
C0240595|A form of nystagmus in which the eyeball makes rotary motions around the axis.|HPO|N|
C0240611|A swelling or enlargment localized to the ovary. The word mass is usually used at an early stage of the diagnostic workup before the precise nature of the swelling has been determined.|HPO|N|
C0240621|Swelling related to fluid accumulation within the palate.|HPO|N|
C0240635|Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).|HPO|N|
C0240649|Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching over the palm(s) of the hand.|HPO|N|
C0240671|Increased time to coagulation in the partial thromboplastin time (PTT) test, a measure of the intrinsic and common coagulation pathways. Phospholipid, and activator, and calcium are mixed into an anticoagulated plasma sample, and the time is measured until a thrombus forms.|HPO|N|
C0240679|Muscular atrophy affecting the muscles that attach to the pelvic girdle (the gluteal muscles, the lateral rotators, adductor magnus, adductor brevis, adductor longus, pectineus, and gracilis muscles).|HPO|N|
C0240682|Pelvic girdle pain is experienced between the posterior iliac crest and the gluteal fold, in particular in the sacroiliac joint. The pain may radiate to the posterior thigh. The condition is generally related to pregnancy, trauma, arthritis and osteoarthritis.|SNOMEDCT_US|N|
C0240701|Length of penis more than 2 SD below the mean for age accompanied by hypospadias.|HPO|N|
C0240709|Compression of the heart caused by rigid, thickened, or fused pericardial membranes.|HPO|N|
C0240717|Painful sensation in the perineal area.|NCI|N|
C0240733|Weakness of the peroneal muscles.|HPO|N|
C0240735|An abnormal shift in patterns of thinking, acting, or feeling.|HPO|N|
C0240741|Fluid exuded from the posterior wall of the pharynx.|HPO|N|
C0240772|An abnormal accumulation of fluid beneath the skin on sole of the foot.|HPO|N|
C0240783|An increased level of renin in the blood.|HPO|N|
C0240803|A non-Hodgkin or Hodgkin lymphoma that arises in the cerebral hemispheres as a primary lesion.|NCI|N|
C0240805|A premonitory symptom or early warning sign of a mental or physical disorder.|PSY|N|
C0240811|An acute or chronic infectious process affecting the prostate gland.|NCI|N|
C0240812|Pain in the prostate gland.|NCI|N|
C0240821|Formation of membrane-like structures consisting of coagulated exudate that is loosely adherent to an inflamed tissue.|NCI|N|
C0240859|Abnormal breath sounds (crackles) heard on auscultation only in the bases of the lungs. They indicate inflammation, fluid, or infection in the air sacs of the lung.|NCI|N|
C0240880|The presence of a fistula between the perineum and the rectum.|HPO|N|
C0240896|Absence of a region of the retina, retinal pigment epithelium, and choroid.|HPO|N|
C0240897|Fluid which has escaped from retinal blood vessels with a high concentration of lipid, protein, and cellular debris with a typically bright, reflective, white or cream colored appearance on the surface of the retina.|HPO|N|
C0240903|Necrotizing VASCULITIS of small and medium size vessels, developing as a complication in RHEUMATOID ARTHRITIS patients. It is characterized by peripheral vascular lesions, cutaneous ulcers, peripheral gangrene, and mononeuritis multiplex.|MONDO|N|
C0240912|Congenital vertical talus (CVT), also known as 'rocker-bottom foot' deformity, is a dislocation of the talonavicular joint characterized by vertical orientation of the talus with a rigid dorsal dislocation of the navicular, equinus deformity of the calcaneus, abduction deformity of the forefoot, and contracture of the soft tissues of the hind- and mid-foot. This condition is usually associated with multiple other congenital deformities and only rarely is an isolated deformity with familial occurrence (summary by Levinsohn et al., 2004). The condition is transmitted in an autosomal dominant pattern of inheritance, and sometimes shows incomplete penetrance and variable expressivity. There may be a broad spectrum of deformities, including flatfoot, talipes equinovarus (TEV or clubfoot), cavus foot, metatarsus adductus, and even hypoplasia of the tibia (summary by Dobbs et al., 2006).|OMIM|N|
C0240914|The patient stands with the feet placed together and balance and is asked to close his or her eyes. A loss of balance upon eye closure is a positive Romberg sign and is interpreted as indicating a deficit in proprioception.|HPO|N|
C0240919|Of or pertaining to the country as opposed to the city. (American Heritage Dictionary)|NCI|N|
C0240928|Hypersalivation, also known as salt craving, refers to an excessive desire to consume salt (sodium chloride) or salty foods.|HPO|N|
C0240940|Painful sensation in the skin covering the top and the back of the head.|NCI|N|
C0240952|An abnormal pattern of speech in which the words are as if measured or scanned; there is a pause after every syllable, and the syllables themselves are pronounced slowly.|HPO|N|
C0240953|Abnormal protrusion of the scapula away from the surface of the back.|HPO|N|
C0240962|Conjunctival icterus is a condition where there is yellowing of the whites of the eyes. This is most commonly seen in patients who have liver disease.|HPO|N|
C0240969|A cystic lesion located in the scrotum.|NCI|N|
C0240991|Incoordination of movement caused by a deficit in the sensory nervous system. Sensory ataxia can be distinguished from cerebellar ataxia by asking the patient to close his or her eyes. Persons with cerebellar ataxia show only a minimal worsening of symptoms, whereas persons with sensory ataxia show a marked worsening of symptoms.|HPO|N|
C0240995|Increased concentration of androstenedione in the blood circulation.|HPO|N|
C0240997|Decreased concentration of ceruloplasmin in the blood.|HPO|N|
C0241005|An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase (CK; EC 2.7.3.2) in the blood. CK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy.|HPO|N|
C0241011|A reduction below normal concentration of estradiol in the circulation.|HPO|N|
C0241012|Abnormally reduced concentration of ferritin, a ubiquitous intracellular protein that stores iron, in the blood.|HPO|N|
C0241013|Increased concentration of ferritin in the blood circulation.|HPO|N|
C0241028|A response indicating that an individual is or was sexually active.|NCI|N|
C0241042|Shoulder joint stiffness is a perceived sensation of tightness in shoulders when attempting to move them after a period of inactivity.|HPO|N|
C0241057|A sensation of dermal stinging or heat, not necessarily accompanied by redness or physical signs of skin irritation.|NCI|N|
C0241060|A hollow mass located in the skin that is surrounded by an epithelium-lined wall and is well demarcated from the adjacent tissue. Cysts are often said to be sac-like and may contain serous liquid or semisolid material.|HPO|N|
C0241074|A condition in which the skin can be stretched beyond normal, and then returns to its initial position.|HPO|N|
C0241075|An area of hardness in the skin. Causes include inflammatory process and infiltration of the skin by malignant neoplasms.|NCI|N|
C0241136|Painful sensation in the skin.|NCI|N|
C0241144|Pinhead size (3 mm) skin discolorization due to hemorrhage.|MSH|N|
C0241148|A plaque is a solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter.|HPO|N|
C0241157|A small elevation of the skin containing cloudy or purulent material usually consisting of necrotic inflammatory cells.|HPO|N|
C0241158|Formation of new tissue formed in the healing of a wound.|NCI|N|
C0241165|Laminar thickening of skin.|HPO|N|
C0241181|Skin that splits easily with minimal injury.|HPO|N|
C0241185|The presence in serum of antibodies against smooth muscle.|HPO|N|
C0241186|A type of primitive reflex that is elicited by tapping the upper lip lightly. The contraction of the muscles causes the mouth to resemble a snout.|HPO|N|
C0241234|An increased proportion of eosinophils in sputum in the differentiated cell count.|HPO|N|
C0241235|Sputum contains pus.|HPO|N|
C0241240|A height above that which is expected according to age and gender norms.|HPO|N|
C0241254|Abnormally increased amount of mucus in the feces. Mucus is a slippery aqueous secretion produced by mucous membranes including those of the intestines.|HPO|N|
C0241262|Inflamed tongue with hyperplastic (enlarged) fungiform papillae that is said to resemble a strawberry or raspberry.|HPO|N|
C0241267|Lack of subcutaneous adipose tissue.|HPO|N|
C0241314|Excessive desire to eat sweet foods.|HPO|N|
C0241320|An auscultated finding describing a sharp, high-frequency sound heard during auscultation of the thorax caused by valvular prolapse or stenosis. (ACC-AHA)|NCI|N|
C0241351|A cystic lesion located in the testes.|NCI|N|
C0241353|An abnormal bulge or lump in a testis. A testicular mass has a long differential diagnosis including testicular torsion, epididymitis, acute orchitis, strangulated hernia and testicular cancer.|HPO|N|
C0241355|Reduced volume of the testicle (the male gonad).|HPO|N|
C0241395|Spoon-shaped, broad thumbs.|HPO|N|
C0241397|A thumb with three phalanges in a single, proximo-distal axis. Thus, this term applies if the thumb has an accessory phalanx, leading to a digit like appearance of the thumb.|HPO|N|
C0241416|An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the toe.|HPO|N|
C0241423|Wasting of the tongue.|HPO|N|
C0241424|Clamping of the teeth on the tongue, as can accompany a seizure. (ACC-AHA)|NCI|N|
C0241435|A clinical term that indicates the presence of a white patch on the surface of the tongue which cannot be characterized as any other disease. It may be a precancerous condition and in most cases histologic examination reveals keratosis.|NCI|N|
C0241442|Tongue extending beyond the alveolar ridges or teeth at rest.|HPO|N|
C0241446|An unintentional, oscillating to-and-fro muscle movement affecting the tongue.|HPO|N|
C0241474|Reduced intensity of the triceps tendon reflex.|HPO|N|
C0241492|A reduction in the strength of the trunk muscles.|NCI|N|
C0241521|Divergence of the longitudinal axis of the hand at the wrist in a posterior (ulnar) direction (i.e., towards the little finger).|HPO|N|
C0241557|A swelling or enlargment localized to the ureter. The word mass is usually used at an early stage of the diagnostic workup before the precise nature of the swelling has been determined.|HPO|N|
C0241558|Bleeding originating from the urethra.|NCI|N|
C0241577|The concentration of a catecholamine in the urine, normalized for urine concentration, is above the upper limit of normal.|HPO|N|
C0241616|A condition characterized by the absence of squamous maturation in the vaginal epithelium. It is associated with decreased estrogen production.|NCI|N|
C0241619|A cyst located in the vagina.|NCI|N|
C0241633|Persistent vaginal dryness.|HPO|N|
C0241654|Any structural abnormality of a cardiac valve.|HPO|N|
C0241657|An abnormality of the vasculature.|HPO|N|
C0241665|An anomaly of vein.|HPO|N|
C0241688|Loss of peripheral vision with retention of central vision, resulting in a constricted circular tunnel-like field of vision.|HPO|N|
C0241700|Reduced intensity (volume) of speech.|HPO|N|
C0241703|An abnormal increase in the pitch (frequency) of the voice.|HPO|N|
C0241726|A failure to achieve the ability to walk at an appropriate developmental stage. Most children learn to walk in a series of stages, and learn to walk short distances independently between 12 and 15 months.|HPO|N|
C0241729|Repetitive loss and regain of body weight.|NCI|N|
C0241759|A sensation of tightness in the wrist joint when attempting to move it, especially after a period of inactivity.|HPO|N|
C0241764|A mode of inheritance that is observed for traits related to a gene encoded on the X chromosome.|HPO|N|
C0241775|Excretion of non-amino organic acids in urine.|HPO|N|
C0241816|Unlocalized atrophy of the brain with decreased total brain matter volume and increased ventricular size.|HPO|N|
C0241832|A condition resulting in inadequate blood flow through the blood vessels supplying the brain, due to intrinsic disease of the vasculature.|NCI|N|
C0241889|Information about close relatives of an individual who is the proband of a study or who is being investigated with the goal of identifying a medical diagnosis. Usually, the family history includes information from three generations of relatives, including children, brothers and sisters, parents, aunts and uncles, nieces and nephews, grandparents, and cousins.|HPO|N|
C0241908|Benign familial hematuria (BFH) is an autosomal dominant condition manifest as nonprogressive isolated microscopic hematuria that does not result in renal failure. It is characterized pathologically by thinning of the glomerular basement membrane (GBM), and can be considered the mildest end of the spectrum of renal diseases due to type IV collagen defects of the basement membrane. The most severe end of the spectrum is represented by Alport syndrome (301050; 203780, 104200), which results in end-stage renal failure and may be associated with hearing loss and ocular anomalies (review by Lemmink et al. (1996)).
Genetic Heterogeneity of Benign Familial Hematuria
See also benign familial hematuria-2 (BFH2; 620320), caused by mutation in the COL4A3 gene (120070).|OMIM|N|
C0241910|A chronic self-perpetuating hepatocellular INFLAMMATION of unknown cause, usually with HYPERGAMMAGLOBULINEMIA and serum AUTOANTIBODIES.|MSH|N|
C0241934|A less severe form of mania characterized by elevated mood, hyperactivity, and grandiosity. In contrast to mania, these symptoms do not cause significant impairment of the individual''s productivity at work, or social and family relationships.|NCI|N|
C0241961|A benign renal neoplasm composed of fat, vascular, and smooth muscle elements.|HPO|N|
C0241981|A deficit in equilibrium, which may manifest as unsteady ambulation or inability to maintain an upright position.|NCI|N|
C0241982|Pulmonary bullae are rounded focal regions of emphysema with a thin wall which measure more than 1 cm in diameter. They are often subpleural in location and are typically larger in the apices. In some cases, bullae can be very large and result in compression of adjacent lung tissue. A giant bulla is arbitrarily defined as one that occupies at least one third of the volume of a hemithorax. When large, bullae can simulate pneumothorax. The most common cause is paraseptal emphysema but bullae may also be seen in association with centrilobular emphysema.|HPO|N|
C0241983|A hemangioma that involves the lung.|MONDO|N|
C0241984|Honeycombing represents destroyed and fibrotic lung tissue containing numerous cystic airspaces with thick fibrous walls, representing the late stage of various lung diseases, with complete loss of acinar architecture. The cysts range in size from a few millimeters to several centimeters in diameter, have variable wall thickness, and are lined by metaplastic bronchiolar epithelium. On chest radiographs, honeycombing appears as closely approximated ring shadows, typically 3-10 mm in diameter with walls 1-3 mm in thickness, that resemble a honeycomb; the finding implies end-stage lung disease. On CT scans, the appearance is of clustered cystic air spaces, typically of comparable diameters on the order of 3-10 mm but occasionally as large as 2.5 cm. Honeycombing is usually subpleural and is characterized by well-defined walls. It is a CT feature of established pulmonary fibrosis. Because honeycombing is often considered specific for pulmonary fibrosis and is an important criterion in the diagnosis of usual interstitial pneumonia, the term should be used with care, as it may directly impact patient care.|HPO|N|
C0241989|A type of vulvar cancer that originates from melanocytes of the vulva.|HPO|N|
C0242006|Myelofibrosis that develops in patients with a history of hematologic malignancies or toxic injury to the bone marrow.|NCI|N|
C0242129|A type of ischemic stroke resulting from obstruction due to a BLOOD CLOT formed within in a CEREBRAL ARTERY often associated with ATHEROSCLEROSIS. A stroke due to a blood clot in a cerebral vein is a venous infarction (see VENOUS INFARCTION, BRAIN).|MSH|N|
C0242172|Pelvic inflammatory disease (PID) is an acute or chronic inflammation in the pelvic cavity. It is most commonly caused by sexually transmitted diseases, including chlamydia and gonorrhea that have ascended into the uterus, fallopian tubes, or ovaries as a result of intercourse or childbirth, or of surgical procedures, including insertion of IUDs or abortion. PID may be either symptomatic or asymptomatic. It may cause infertility and it may raise the risk of ectopic pregnancy. PID is a disease associated with HIV infection.|NCI|N|
C0242183|Jaundice occurring as a result of red blood cell rupture.|NCI|N|
C0242184|A decrease in the amount of oxygen in the body. Symptoms range from mild (impaired judgment, memory loss, impaired motor coordination) to severe (seizures and coma).|NCI|N|
C0242205|A past medical history of having been fed exclusively by breast feeding.|HPO|N|
C0242216|Solid crystalline precipitates in the biliary tract, usually formed in the gallbladder, resulting in the condition of cholelithiasis. Gallstones, derived from the bile, consist mainly of calcium, cholesterol, or bilirubin.|MONDO|N|
C0242225|The absence of or defect in the perception of colors.|NCI|N|
C0242231|Abnormal narrowing of the coronary artery.|HPO|N|
C0242271|The state of a person with regard to earning wages or salary.|NCI|N|
C0242287|Peripheral nerve hyperexcitability manifesting as spontaneous discharges originating from motor axons or their terminals, lead to overactivity of muscles, typically manifesting as twitches, cramps and stiffness.|HPO|N|
C0242292|Fibrous dysplasia / McCune-Albright syndrome (FD/MAS), the result of an early embryonic postzygotic somatic activating pathogenic variant in GNAS (encoding the cAMP pathway-associated G-protein, Gsa), is characterized by involvement of the skin, skeleton, and certain endocrine organs. However, because Gsa signaling is ubiquitous, additional tissues may be affected. Café au lait skin macules are common and are usually the first manifestation of the disease, apparent at or shortly after birth. Fibrous dysplasia (FD), which can involve any part and combination of the craniofacial, axial, and/or appendicular skeleton, can range from an isolated, asymptomatic monostotic lesion discovered incidentally to severe disabling polyostotic disease involving practically the entire skeleton and leading to progressive scoliosis, facial deformity, and loss of mobility, vision, and/or hearing. Endocrinopathies include: Gonadotropin-independent precocious puberty resulting from recurrent ovarian cysts in girls and autonomous testosterone production in boys; Testicular lesions with or without associated gonadotropin-independent precocious puberty; Thyroid lesions with or without non-autoimmune hyperthyroidism; Growth hormone excess; FGF23-mediated phosphate wasting with or without hypophosphatemia in association with fibrous dysplasia; and Neonatal hypercortisolism. The prognosis for individuals with FD/MAS is based on disease location and severity.|GeneReviews|N|
C0242301|An infection of a hair follicle that extends subcutaneously, forming an abscess.|HPO|N|
C0242310|A type of HCD characterized by the production of incomplete monoclonal mu-heavy chains without associated light chains. The clinical presentation resembles that of patients with chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL).|ORDO|N|
C0242339|A lipoprotein metabolism disorder characterized by decreased levels of high-density lipoproteins, or elevated levels of plasma cholesterol, low-density lipoproteins and/or triglycerides.|NCI|N|
C0242341|The permanent lack of SEXUAL DEVELOPMENT in an individual. This defect is usually observed at an age after expected PUBERTY.|MSH|N|
C0242342|Sheehan syndrome is a rare, acquired, pituitary hormone deficiency disorder resulting from pituitary necrosis following peri- or postpartum hemorrhage characterized by various symptoms depending on resulting hormone decrease (e.g. failure or difficulty with lactation, oligo- or amenorrhea, hot flashes, decreased libido, weakness, fatigue, anorexia, nausea, vomiting, hypoglycemia, hyponatremia, dizziness, decreased muscle mass, adrenal crisis). Secondary hypothyroidism and secondary adrenal insufficiency may also be presenting signs.|ORDO|N|
C0242343|A pituitary functional deficit affecting all the anterior pituitary hormones (growth hormone, thyroid-stimulating hormone, follicle-stimulating hormone, luteinizing hormone, adrenocorticotropic hormone, and prolactin).|HPO|N|
C0242350|A multidimensional but common male sexual dysfunction that involves an alteration in any of the components of the erectile response, including organic, relational and psychological.|HPO|N|
C0242354|existing at, and usually before, birth; referring to conditions that are present at birth, regardless of their causation; inborn metabolism disorders are generally not treed here.|CSP|N|
C0242363|A neuroendocrine tumor originating in a hormone-producing cell (islet cell) of the pancreas.|HPO|N|
C0242379|A primary or metastatic malignant neoplasm involving the lung.|NCI|N|
C0242380|An endocarditis that is characterized by Libman-Sacks vegetations, is common in patients with systemic lupus erythematosus and is commonly complicated with embolic cerebrovascular disease.|MONDO|N|
C0242381|Joint inflammation, most often affecting large joints, associated with Lyme disease, presenting months after infection.|NCI|N|
C0242383|Age-related macular degeneration is an eye disease that is a leading cause of vision loss in older people in developed countries. Subtle abnormalities indicating changes in vision may occur in a person's forties or fifties. Distorted vision and vision loss usually become noticeable in a person's sixties or seventies and tend to worsen over time.\n\nAge-related macular degeneration mainly affects central vision, which is needed for detailed tasks such as reading, driving, and recognizing faces. The vision loss in this condition results from a gradual deterioration of light-sensing cells in the tissue at the back of the eye that detects light and color (the retina). Specifically, age-related macular degeneration affects a small area near the center of the retina, called the macula, which is responsible for central vision. Side (peripheral) vision and night vision are generally not affected, but slow adjustment of vision to darkness (dark adaptation) and reduced dim light (scotopic) vision often occur in the early stages of the disease.\n\nIn 10 to 15 percent of affected individuals, the dry form progresses to the wet form of age-related macular degeneration. The wet form is characterized by the growth of abnormal, fragile blood vessels underneath the macula. These vessels leak blood and fluid, which damages the macula and makes central vision appear blurry and distorted. The wet form of age-related macular degeneration is associated with severe vision loss that can worsen rapidly.\n\nResearchers have described two major types of age-related macular degeneration, known as the dry form and the wet form. The dry form is much more common, accounting for 85 to 90 percent of all cases of age-related macular degeneration. It is characterized by a buildup of yellowish deposits called drusen beneath the retina and vision loss that worsens slowly over time. The most advanced stage of dry age-related macular degeneration is known as geographic atrophy, in which areas of the macula waste away (atrophy), resulting in severe vision loss. Dry age-related macular degeneration typically affects vision in both eyes, although vision loss often occurs in one eye before the other.|MedlinePlus Genetics|N|
C0242385|Lingual occlusion of buccal cusps and/or incisal edge of maxillary teeth to the buccal cusps and/or incisal edge of mandibular teeth.|HPO|N|
C0242387|Treacher Collins syndrome (TCS) is characterized by bilateral and symmetric downslanting palpebral fissures, malar hypoplasia, micrognathia, and external ear abnormalities. Hypoplasia of the zygomatic bones and mandible can cause significant feeding and respiratory difficulties. About 40%-50% of individuals have conductive hearing loss attributed most commonly to malformation of the ossicles and hypoplasia of the middle ear cavities. Inner ear structures tend to be normal. Other, less common abnormalities include cleft palate and unilateral or bilateral choanal stenosis or atresia. Typically intellect is normal.|GeneReviews|N|
C0242404|A benign, well circumscribed soft tissue neoplasm characterized by the presence of spindle shaped myofibroblasts and mast cells in a collagenous stroma.|NCI|N|
C0242422|Characteristic neurologic anomaly resulting from degeneration of dopamine-generating cells in the substantia nigra, a region of the midbrain, characterized clinically by shaking, rigidity, slowness of movement and difficulty with walking and gait.|HPO|N|
C0242426|Accumulation of chyle (the whitish fluid taken up by the lacteals in the intestine, consisting of an emulsion of lymph and triglyceride fat thatpasses into the veins by the thoracic duct) in the pericardium. Chylopericardium is generally caused by obstruction of or trauma to the thoracic duct.|HPO|N|
C0242429|An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the throat.|HPO|N|
C0242453|Lower urinary tract symptom, such as slow urinary stream, associated with PROSTATIC HYPERPLASIA in older men.|MSH|N|
C0242459|A transient inflammatory pulmonary disorder characterized by eosinophilia. Eosinophilic infiltration of the lungs may be secondary to parasitic infection or drug hypersensitivity. Clinical signs include dry cough, fever and dyspnea. Prognosis is favorable as the disorder follows a self-limited course.|NCI|N|
C0242490|Disorder occurring at the site of insertion of tendons or ligaments into bones or joint capsules|SNOMEDCT_US|N|
C0242497|An intestinal infection that is caused by Schistosoma japonicum.|MONDO|N|
C0242514|Abnormally rapid heartbeats caused by reentrant conduction over the accessory pathways between the HEART ATRIA and the HEART VENTRICLES. The impulse can also travel in the reverse direction, as in some cases, atrial impulses travel to the ventricles over the accessory pathways and back to the atria over the BUNDLE OF HIS and the ATRIOVENTRICULAR NODE.|MSH|N|
C0242528|An increased concentration of nitrogen compounds in the blood.|HPO|N|
C0242567|Bursts of large-amplitude multidirectional saccades without intersaccadic interval|HPO|N|
C0242583|A hereditary immunodeficiency disorder caused by the lack of expression of major histocompatibility complex (MHC) proteins. Signs include upper and lower respiratory tract bacterial infections, malabsorption, diarrhea, and mucocutaneous candidiasis.|NCI|N|
C0242584|The presence of thrombocytopenia in combination with detection of antiplatelet antibodies.|HPO|N|
C0242596|Evidence for remaining tumor following primary treatment that is only apparent using highly sensitive techniques.|NCI|N|
C0242597|Rare, autosomal recessive disorder caused by deficiency of the beta 2 integrin receptors (RECEPTORS, LEUKOCYTE-ADHESION) comprising the CD11/CD18 family of glycoproteins. The syndrome is characterized by abnormal adhesion-dependent functions, especially defective tissue emigration of neutrophils, leading to recurrent infection.|MSH|N|
C0242606|A disturbance in the prooxidant-antioxidant balance in favor of the former, leading to potential damage. Indicators of oxidative stress include damaged DNA bases, protein oxidation products, and lipid peroxidation products. The damage to biological tissues is caused by superoxide and other free radicals generated by many factors, including exposure to alcohol, medications, trauma, cold, toxins, and radiation or by antimicrobial cellular immunity, metabolic abnormality, or ""normal"" aging; not synonymous with hypoxia or hyperoxia. Oxidative stress promotes a range of degenerative disorders, including cancer, diabetes, premature aging, Alzheimer''s, and many others.|NCI|N|
C0242634|Diseases of animals within the order PRIMATES. This term includes diseases of Haplorhini and Strepsirhini.|MSH|N|
C0242635|Diseases of chimpanzees, gorillas, and orangutans.|MSH|N|
C0242644|A disorder caused by a spinal injury leading to an incomplete spinal lesion. Patients develop paralysis, ataxia and loss of sensation. Causes include spinal cord tumors, spinal traumas, ischemia, and inflammatory processes affecting the spine.|NCI|N|
C0242645|A condition that is caused by recurring atheroembolism in the lower extremities. It is characterized by cyanotic discoloration of the toes, usually the first, fourth, and fifth toes. Discoloration may extend to the lateral aspect of the foot. Despite the gangrene-like appearance, blue toes may respond to conservative therapy without amputation.|MONDO|N|
C0242647|MALT (mucosa-associated lymphoid tissue) lymphoma is a rare form of malignant non-Hodgkin lymphoma (see this term) that affects B cells and grows at the expense of lymphoid tissue associated with mucous membranes, but also occurs, more rarely, in lymph nodes.|ORDO|N|
C0242648|The passage of a substance or infectious agent from the mother to the fetus or newborn.|NCI|N|
C0242649|The transmission of infectious disease or pathogens from one individual to another.|MSH|N|
C0242656|A process that manifests as the worsening of a disease over time.|NCI|N|
C0242666|A rare thrombophilia disorder characterized by deficiency of protein S. It results in venous thromboembolism.|NCI|N|
C0242669|After delivery of neonate, placental retention that requires clinical intervention such as manual extraction, curettage or uterotonic medications.|NCI|N|
C0242670|Vegetative state refers to the neurocognitive status of individuals with severe brain damage, in whom physiologic functions (sleep-wake cycles, autonomic control, and breathing) persist, but awareness (including all cognitive function and emotion) is abolished.|MSH|N|
C0242676|Non-therapeutic positive end-expiratory pressure occurring frequently in patients with severe airway obstruction. It can appear with or without the administration of external positive end-expiratory pressure (POSITIVE-PRESSURE RESPIRATION). It presents an important load on the inspiratory muscles which are operating at a mechanical disadvantage due to hyperinflation. Auto-PEEP may cause profound hypotension that should be treated by intravascular volume expansion, increasing the time for expiration, and/or changing from assist mode to intermittent mandatory ventilation mode. (From Harrison''s Principles of Internal Medicine, 12th ed, p1127)|MSH|N|
C0242698|Inability of the left ventricle to perform its normal physiologic function. Failure is either due to an inability to contract the left ventricle or the inability to relax completely and fill with blood during diastole.|HPO|N|
C0242699|Decrease, loss, or removal of the mineral constituents of bones. Temporary loss of bone mineral content is especially associated with space flight, weightlessness, and extended immobilization. OSTEOPOROSIS is permanent, includes reduction of total bone mass, and is associated with increased rate of fractures. CALCIFICATION, PHYSIOLOGIC is the process of bone remineralizing. (From Dorland, 27th ed; Stedman, 25th ed; Nicogossian, Space Physiology and Medicine, 2d ed, pp327-33)|MSH|N|
C0242700|Disorder characterized by nausea, vomiting, and dizziness, possibly in response to vestibular disorientation or fluid shifts associated with space flight. (From Webster's New World Dictionary)|MONDO|N|
C0242706|An abnormal increase in the amount of oxygen in the tissues and organs.|MSH|N|
C0242707|Impairment of the right ventricular function associated with low ejection fraction and decreased motility of the right ventricular wall.|NCI|N|
C0242723|The presence of parasites (especially malarial parasites) in the blood. (Dorland, 27th ed)|MONDO|N|
C0242770|Bronchiolitis obliterans organizing pneumonia (BOOP) is and interstitial lung abnormalitiy characterized histopathologically by plugs of granulation tissue lying within small airways, alveolar ducts, and alveoli and by chronic inflammatory cell infiltration in alveolar walls. Patients with BOOP generally present with subacute illness, including shortness of breath, fever, malaise, and weight loss.|HPO|N|
C0242771|Non-susceptibility of an organism to the action of the cephalosporins.|MSH|N|
C0242781|A passage or transfer, as of a disease from one individual to another.|NCI|N|
C0242785|The pharmacological result, either desirable or undesirable, of drugs interacting with components of the diet. (From Stedman, 25th ed)|MSH|N|
C0242786|A fetal/maternal condition that is risky and portends complications for the mother and/or fetus, when compared to a normal pregnancy.|NCI|N|
C0242788|Any neoplasms of the male breast. These occur infrequently in males in developed countries, the incidence being about 1% of that in females.|MSH|N|
C0242830|The historic designation for scrofula (TUBERCULOSIS, LYMPH NODE). The disease is so called from the belief that it could be healed by the touch of a king. This term is used only for historical articles using the name ""king''s evil"", and is to be differentiated from scrofula as lymph node tuberculosis in modern clinical medicine. (From Webster, 3d ed)|MSH|N|
C0242843|A clinical condition characterized by fever and profuse sweating and associated with high mortality. It occurred in epidemic form five times in the fifteenth and sixteenth centuries in England, first in 1485 and last in 1551, specially during the summer and early autumn, attacking the relatively affluent adult male population. The etiology was unknown.|MSH|N|
C0242852|Vitreoretinal membrane shrinkage or contraction secondary to the proliferation of primarily retinal pigment epithelial cells and glial cells, particularly fibrous astrocytes, followed by membrane formation. The formation of fibrillar collagen and cellular proliferation appear to be the basis for the contractile properties of the epiretinal and vitreous membranes.|MONDO|N|
C0242855|A congenital disorder of the pulmonary valve in which the orifice of the valve fails to develop.|HPO|N|
C0242875|Laceration or tearing of the VENTRICULAR SEPTUM, usually caused by MYOCARDIAL INFARCTION.|MSH|N|
C0242916|Infections with viruses of the order mononegavirales. The concept includes filoviridae infections; paramyxoviridae infections; and rhabdoviridae infections.|MONDO|N|
C0242917|Infections with viruses of the family filoviridae. The infections in humans consist of a variety of clinically similar viral hemorrhagic fevers but the natural reservoir host is unknown.|MONDO|N|
C0242943|The structure of one molecule that imitates or simulates the structure of a different molecule.|MSH|N|
C0242966|A generalized state of dysregulated inflammation induced by noninfectious processes. It is characterized by two or more of the following signs and symptoms: fever or hypothermia, increased heart rate, increased respiratory rate, and abnormal white blood cell count.|NCI|N|
C0242973|Impairment of the ventricle to either fill or eject adequately.|NCI|N|
C0242979|A state arrived at through prolonged and strong contraction of a muscle. Studies in athletes during prolonged submaximal exercise have shown that muscle fatigue increases in almost direct proportion to the rate of muscle glycogen depletion. Muscle fatigue in short-term maximal exercise is associated with oxygen lack and an increased level of blood and muscle lactic acid, and an accompanying increase in hydrogen-ion concentration in the exercised muscle.|MSH|N|
C0242992|Idiopathic environmental intolerance (IEI) formerly called multiple chemical sensitivity, is a subjective illness marked by recurrent, nonspecific symptoms attributed to low levels of chemical, biologic or physical agents.|SNOMEDCT_US|N|
C0242993|Mild form of HFRS rarely hemorrhagic and seldom fatal. Caused by the PUUMALA VIRUS.|MSH|N|
C0242994|Any infection caused by a virus of the genus Hantavirus, which is transmitted by aerosolized rodent excreta or rodent bites, that can result in a variety of clinical manifestations from hemorrhagic fever with renal syndrome to a pulmonary syndrome.|NCI|N|
C0243000|Inability to achieve and maintain an erection (erectile dysfunction) due to defects in the arterial blood flow to the penis, defect in venous occlusive function allowing blood drainage (leakage) from the erectile tissue (corpus cavernosum penis), or both.|MONDO|N|
C0243001|An abscess within the abdomen.|NCI|N|
C0243002|Failure to develop of the tricuspid valve and thus lack of the normal connection between the right atrium and the right ventricle.|HPO|N|
C0243010|An inflammation of brain parenchyma due to infection with a virus. Viral encephalitis can occur as a rare complication of common infections (eg, herpes virus infections) or can occur as a characteristic presentation of rare viruses (eg, rabies virus infection). Encephalitis may be the only neurologic manifestation of infection, or may occur in association with meningitis, myelitis, radiculitis, or neuritis. Viral encephalitis is associated with neurological dysfunction.|HPO|N|
C0243025|A rare viral hemorrhagic fever characterized by virus-induced microvascular leakage rapidly leading to a severe illness with diffuse pulmonary edema and respiratory failure. These symptoms set in after a short first disease stage with fever, myalgia, and headache, followed by severe gastrointestinal symptoms such as abdominal pain, vomiting, and diarrhea. The high lethality of the disease is due to the possible development of hypotension and cardiogenic shock.|ORDO|N|
C0243038|A carcinoma discovered by Dr. Margaret R. Lewis of the Wistar Institute in 1951. This tumor originated spontaneously as a carcinoma of the lung of a C57BL mouse. The tumor does not appear to be grossly hemorrhagic and the majority of the tumor tissue is a semifirm homogeneous mass. (From Cancer Chemother Rep 2 1972 Nov;(3)1:325) It is also called 3LL and LLC and is used as a transplantable malignancy.|MSH|N|
C0243050|Any abnormality of the cardiovascular system.|HPO|N|
C0243057|Congenital structural abnormalities of the mouth and jaws, including the dentition.|MSH|N|
C0243069|Incomplete or underdevelopment of a tissue or organ.|NCI|N|
C0243095|The result of an examination or inquiry.|NCI|N|
C0243102|The rate of reaction catalyzed by an enzyme, usually expressed as micromoles of product formed or substrate transformed per minute.|NCI|N|
C0259737|Adiaspiromycosis is a rare fungal infection in the lung and is caused by inhalation of spores of the saprophytic soil fungus Chrysosporium parvum var crescens (previously known as Emmonsia crescens).|MONDO|N|
C0259749|An inherited or acquired peripheral neuropathy affecting the autonomic nervous system. It results in disruption of the involuntary body functions. Inherited causes include Fabry disease and porphyrias. Acquired causes include diabetes, uremia, hepatic disorders, vitamin deficiencies, toxins, and drug toxicities.|NCI|N|
C0259758|An electrocardiographic finding of partially blocked cardiac electrical impulse conduction along the fibers of one or both bundle branches.|NCI|N|
C0259768|Splitting of the sutured margins of a surgical wound. Risk factors include diabetes mellitus, obesity, and advanced age.|NCI|N|
C0259770|The most common type of cutaneous cyst. It results from the proliferation of epidermal cells in a circumscribed space within the dermis. It is usually asymptomatic and presents as a firm, round nodule.|NCI|N|
C0259771|Steatocystoma multiplex is a skin disorder characterized by the development of multiple noncancerous (benign) cysts known as steatocystomas. These growths begin in the skin's sebaceous glands, which normally produce an oily substance called sebum that lubricates the skin and hair. Steatocystomas are filled with sebum.\n\nIn affected individuals, steatocystomas typically first appear during adolescence and are found most often on the torso, neck, upper arms, and upper legs. These cysts are usually the only sign of the condition. However, some affected individuals also have mild abnormalities involving the teeth or the fingernails and toenails.|MedlinePlus Genetics|N|
C0259777|A non-neoplastic lesion of the ureter characterized by the presence of multiple submucosal small cysts in the ureteral wall. It is caused by inflammation due to urinary tract stones or infection.|NCI|N|
C0259779|Tumor-like growths that consist of replacement of the medullary bone with fibrous tissue, causing the expansion and weakening of the areas of bone involved. Especially when involving the skull or facial bones, the lesions can cause externally visible deformities. The skull is often, but not necessarily, affected, and any other bone or bones may be involved. Fibrous dysplasia can either effect isolated bones (Monostotic fibrous dysplasia) or also generalized all bones of the body (Polyostotic fibrous dysplasia).|HPO|N|
C0259781|A nevus composed of neoplastic melanocytes that infiltrate both the epidermis and the dermis.|NCI|N|
C0259782|An osteosarcoma usually arising from the metaphysis of long bones. It is characterized by the presence of a cystic architecture with blood-filled spaces. The prognosis is similar to that of conventional osteosarcoma.|NCI|N|
C0259783|A tumor composed of two or more glial cell types (astrocytes, ependymal cells, and oligodendrocytes).|NCI|N|
C0259785|A WHO grade III meningioma characterized by the presence of malignant morphologic features, including malignant cytology and a very high mitotic index (20 or more mitoses per ten high power fields).|NCI|N|
C0259786|A WHO grade III meningioma characterized by the predominant presence of rhabdoid cells forming sheets.|NCI|N|
C0259795|Inflammation of the small intestine caused by radiation exposure.|NCI|N|
C0259820|A nevus characterized by the presence of large epithelioid melanocytes.|NCI|N|
C0260000|A physiochemical process which occurs in a wide range of organisms which unlike BASAL METABOLISM is not required for or essential to short-term survivability but to long-term general well-being of the organism.|MSH|N|
C0260409|An individual history of cancer of the stomach.|NCI|N|
C0260419|An individual history of cancer of the larynx.|NCI|N|
C0260429|An individual history of cancer of the prostate.|NCI|N|
C0260437|An individual history of leukemia.|NCI|N|
C0260439|An individual history of lymphoid leukemia.|NCI|N|
C0260440|An individual history of myeloid leukemia.|NCI|N|
C0260442|An individual history of leukemia, other than those listed.|NCI|N|
C0260447|An individual history of cancer of the bone.|NCI|N|
C0260448|An individual history of melanoma of the skin.|NCI|N|
C0260506|A history of a first-degree family member with cancer of the gastrointestinal tract.|NCI|N|
C0260510|A history of a first-degree family member with cancer of the reproductive system.|NCI|N|
C0260511|A history of a first-degree family member with cancer of the urinary system.|NCI|N|
C0260514|A history of a first-degree family member with a specified cancer other than those listed.|NCI|N|
C0260515|A close blood relative had cancer.|HPO|N|
C0260662|A disorder characterized by the partial or complete loss of the ability to detect sounds due to damage to the ear structures or inability of the brain to properly interpret or process the auditory signals it receives from the anatomic structures of the ear.|NCI|N|
C0260845|An encounter with a patient that requires that their prescription be refilled or re-issued.|NCI|N|
C0262365|A radiologic finding indicating the presence of abnormalities in the breast parenchyma identified in a mammogram performed for screening or diagnostic purposes. These abnormalities include calcifications, breast tissue distortion, presence of areas of density, and presence of benign or malignant tumors.|NCI|N|
C0262374|Abnormal narrowing of the anal opening.|HPO|N|
C0262382|An electrocardiographic finding of a sinus beat followed by a premature atrial complexes for three or more consecutive cycles; a regularly irregular rhythm of normal and abnormal P waves in a 1-1 ratio. (CDISC)|NCI|N|
C0262395|Blood pressure in the zone between the highest normal level and the level that is considered hypertensive.|NCI|N|
C0262401|A carcinoma originating in the ampulla of Vater (also known as the hepatopancreatic duct), which is formed by the union of the pancreatic duct and the common bile duct.|HPO|N|
C0262404|Degeneration of the cerebellum. It may be an inherited condition, a paraneoplastic syndrome, or secondary to autoimmune disorders.|NCI|N|
C0262414|A partial or complete breakage of the cervical vertebra.|HPO|N|
C0262436|FLNA deficiency is associated with a phenotypic spectrum that includes FLNA-related periventricular nodular heterotopia (Huttenlocher syndrome), congenital heart disease (patent ductus arteriosus, atrial and ventricular septal defects), valvular dystrophy, dilation and rupture of the thoracic aortic, pulmonary disease (pulmonary hypertension, alveolar hypoplasia, emphysema, asthma, chronic bronchitis), gastrointestinal dysmotility and obstruction, joint hypermobility, and macrothrombocytopenia.|GeneReviews|N|
C0262444|Any abnormality of the teeth.|HPO|N|
C0262461|A uniocular condition in which there is fixation of an object by a point other than the fovea. This point adopts the principal visual direction. The degree of the eccentric fixation is defined by its distance from the fovea in degrees.|HPO|N|
C0262463|Detection of lead in the blood.|HPO|N|
C0262469|An ischemic stroke due to a blood clot, emboli or other types of blockage which forms somewhere other than the brain and subsequently travels near and restricts blood flow to the brain. Most often the origin of the clot is from the heart and is referred to as cardioembolic stroke.|MSH|N|
C0262475|A structural anomaly of the Eustachian tube (ET). The ET is a biomechanical valve between the nasopharynx and the middle ear. Physiologically, it controls the passive adaptation of the middle ear air pressure to the ambient air pressure primarily via direct muscular actions of the soft palate. In the closed state it protects the middle ear. Inadequate function of the ET causes middle ear ventilation disorders.|HPO|N|
C0262478|Excessive wrinkling of the skin of the face.|HPO|N|
C0262493|A polypoid tumor that arises from the gallbladder and projects into the lumen. This category includes adenomas and hyperplastic polyps.|NCI|N|
C0262496|A molecular or cytogenic abnormality which occurs in either human disease states or disease models.|NCI|N|
C0262525|Right bundle branch block (RBBB) represents an abnormality in the intraventricular electrical conduction system of the human heart, generating enlarged QRS and modified vectors on the electrocardiogram (ECG). Incomplete RBBB (IRBBB) is defined by (i) QRS duration between 110 and 120 ms in adults; (ii) rsr, rsR, or rSR in leads V1 or V2. The R or r deflection is usually wider than the initial R wave. In a minority of patients, a wide and often notched R wave pattern may be seen in leads V1 and/or V2; (iii) S wave of greater duration than R wave or greater than 40 ms in leads I and V6 in adults; and (iv) Normal R peak time in leads V5 and V6 but greater than 50 ms in lead V1. The first 3 criteria should be present to make the diagnosis. When a pure dominant R wave with or without a notch is present in V1, criterion 4 should be satisfied.|HPO|N|
C0262534|Phenomenon where BLOOD PRESSURE readings are elevated only when taken in clinical settings.|MSH|N|
C0262544|A partial or complete breakage of the lumbar vertebra.|HPO|N|
C0262564|Myocardial infarction in which the anterior wall of the heart is involved. Anterior wall myocardial infarction is often caused by occlusion of the left anterior descending coronary artery. It can be categorized as anteroseptal or anterolateral wall myocardial infarction.|MONDO|N|
C0262568|An electrocardiographic finding of an injury in leads corresponding to the anatomic region of the subendocardial layer of the wall of the heart.|MONDO|N|
C0262576|Paralysis that is caused by damage to a nerve.|NCI|N|
C0262580|A response indicating that an individual has no known allergies.|NCI|N|
C0262584|An aggressive, high-grade, and poorly differentiated carcinoma with neuroendocrine differentiation. It is composed of malignant small cells.|NCI|N|
C0262587|A benign tumor of the parathyroid gland that can cause hyperparathyroidism.|HPO|N|
C0262613|An abnormal growth in the kidney.|NCI|N|
C0262621|An anomaly of the sacroiliac joint, which connects the base of the spine (sacrum) to the ilium (a hip bone).|HPO|N|
C0262627|A collection of serum in the body.|NCI|N|
C0262630|Reduced attention span characterized by distractibility and impulsivity.|HPO|N|
C0262643|Any structural abnormality of the sweat gland.|HPO|N|
C0262650|Abnormality of the thymus, an organ located in the upper anterior portion of the chest cavity just behind the sternum and whose main function is to provide an environment for T lymphocyte maturation.|HPO|N|
C0262655|Repeated infections of the urinary tract.|HPO|N|
C0262659|A group of rare vaginal tumors comprising HPV-associated and HPV-independent squamous cell carcinoma, glandular tumors (including HPV-associated adenocarcinoma, endometrioid carcinoma, clear cell carcinoma, gastric type and intestinal type mucinous carcinoma, and mesonephric adenocarcinoma), adenocarcinoma of Skene gland origin, adenosquamous carcinoma, and adenoid basal carcinoma. Depending on the type of tumor and disease stage, patients may present with symptoms related to a vaginal mass, vaginal bleeding and/or discharge, postcoital bleeding, urinary symptoms, pelvic pain, and a foreign body sensation within the vagina.|ORDO|N|
C0262662|An electrocardiographic finding of a normal QRS followed by a premature ventricular contraction; a rhythmic pairing of normal and atypical beats originating in the ventricles in a 1-1 ratio such that an ectopic ventricular beat follows each regular heartbeat.|HPO|N|
C0262665|An abnormality of the vocal cord.|HPO|N|
C0262666|A circumscribed area of pus or necrotic debris in the vulvar region.|HPO|N|
C0262918|A slight or incomplete paralysis of an extraocular muscle.|NCI|N|
C0262926|A record of a patient''s background regarding health and the occurrence of disease events of the individual. In addition, personal medical history may be a variable in epidemiologic studies.|NCI|N|
C0262929|A myxoma arising from the endocardium.|NCI|N|
C0262963|A germ cell tumor arising in an anatomic site other than the testis or ovary (e.g., central nervous system, lung, mediastinum, and retroperitoneum).|NCI|N|
C0262984|A chronic inflammatory skin condition characterized by itchiness and a rash in the chest and abdominal areas. It affects males more than females and is usually contracted at a relatively young age. It is thought to be caused by an allergic reaction to food, insect bites, or medication.|NCI|N|
C0262985|A skin abnormality characterized by redness and irritation, with thick, red skin that displays flaky, silver-white patches (scales).|HPO|N|
C0262988|A type of vasculitis (inflammation of blood vessel walls) that affects skeletal muscle tissue.|HPO|N|
C0263006|Inflammation surrounding hair follicles.|HPO|N|
C0263109|A circumscribed area of pus or necrotic debris in the groin (inguinal region).|HPO|N|
C0263115|A collection of pus that has formed in the axilla.|NCI|N|
C0263237|A type of acute-onset skin rash characterized by multiple vesicles, which are circumscribed, fluid-containing, epidermal elevation generally considered less than 10mm in diameter at the widest point. The fluid contained in a vesicle may be clear, serous, or hemorrhagic.|HPO|N|
C0263252|Dermatitis caused by an allergic reaction to arnica.|NCI|N|
C0263266|Contact dermatitis caused by exposure to alkalis.|NCI|N|
C0263268|Allergic contact dermatitis caused by exposure to dichromate.|NCI|N|
C0263292|Inflammation of the skin resulting from exposure to the sun.|NCI|N|
C0263312|A rare superficial pemphigus disease characterized clinically by well-demarcated, localized, erythematous, scaly, hyperkeratotic, crusted plaques, with frequent butterfly distribution over the malar area of the face (but also commonly involving trunk and scalp, and less frequently the extremities, with a photoexposed distribution). Histologically, granular deposits along the dermal-epidermal junction, in addition to intercellular deposition in the upper epidermis, are observed.|ORDO|N|
C0263313|A rare superficial pemphigus disease characterized by multiple, pruritic, scaly, crusted cutaneous erosions, with flaky circumscribed patches, localized mostly on the face, scalp, trunk and extremities, often presenting an erythematous base. Mucosal involvement is rarely observed.|ORDO|N|
C0263316|A rare autoimmune bullous skin disease characterized by mucocutaneous bullae with subsequent erosion and formation of vegetative plaques, predominantly affecting intertriginous areas and the oral mucosa. Two clinical forms of the disease are recognized: the Hallopeau type, which presents an indolent course with pustules healing as vegetative plaques and frequent lack of involvement of the oral mucosa, and the Neumann type, which takes a more severe, refractory course with vegetations developing during an eruption of vesiculobullous lesions and involvement of the oral mucosa. Serum analysis reveals antibodies against desmoglein 1 and 3.|ORDO|N|
C0263324|A benign, self-limited eruption of vesicles, pustules, papules and macules seen in newborns. An eosinophilic infiltrate can be isolated suggesting an immune-mediated reaction in the skin.|NCI|N|
C0263334|A form of physical urticaria, in which contact with water, regardless of its temperature and source, evokes pruritic follicular wheals on the skin.|HPO|N|
C0263338|An urticaria that is characterized by the presence of urticaria for a period exceeding 6 weeks, assuming symptoms for most days of the week.|MONDO|N|
C0263353|Prurigonodularis (PN) is a skin disease in which hard crusty lumps are formed on the skin that itches intensely. Repetitive rubbing, scratching, and touching results in more lesions in the skin. The itching is so intense that people scratch themselves to the point of bleeding or pain. The lumps formed in the skin are hard, and have about a half inch across, with a dry and rough top that is often scratched open. They tend to be located in the areas most easily reached and are worse on the outer sides: arms, shoulders and legs. The trunk, face and even palms can also be affected. The exact cause is unknown but some factors triggering PN include liver and kidneys problems, nervous and mental conditions and other skin diseases. Prurigo nodulares, in some cases, can be seen in other diseases such as lymphoma, chronic autoimmune cholestatic hepatitis, HIV infection, severe anemia,or a chronic kidney disease-related itching known as uremic pruritus. Treatment is very difficult, and may include corticoids, antihistaminic and other medication such as thalidomide and similar (Lenalidomide). In some cases, cryotherapy, photochemotherapy and habit reversal therapy for the itch-scratch cycle has improved the symptoms. PN can last for many years, and the itching is so intense that may affect all the everyday activities.|MONDO|N|
C0263369|A rare condition that stimulated chronic radiodermatitis. It is considered a variant of mycosis fungoides.|NCI|N|
C0263370|A variant of parapsoriasis in which the plaques are small.|NCI|N|
C0263382|Kyrle disease is rare condition that affects the skin. People with this condition generally develop large papules with central keratin (a protein found in the skin, hair and nails) plugs throughout their body. These lesions are typically not painful but may cause severe itching. Although it can affect both men and women throughout life, the average age of onset is 30 years. The cause of the disease is currently unknown; however, it is often associated with certain conditions such as diabetes mellitus, kidney disease, liver abnormalities, and congestive heart failure. In some families, the condition appears to be inherited but an underlying genetic cause has not been identified. Treatment aims to address the associated signs and symptoms and any additional disease that may be present. Lesions often heal spontaneously but new ones continue to develop.|MONDO|N|
C0263383|An anomaly of the hair follicles of the skin that typically presents as small, rough, brown folliculocentric papules distributed over characteristic areas of the skin, particularly the outer-upper arms and thighs.|HPO|N|
C0263385|Confluent and reticulated papillomatosis is a dermatologic disorder characterized by onset in the teenage or young adult years of hyperkeratotic 1- to 2-mm papules that increase in size to 4 to 5 mm and coalesce to form a reticular pattern peripherally and a confluent pattern centrally. Early papules can be erythematous and later turn brown. Affected individuals are usually otherwise asymptomatic. The condition is distinct from acanthosis nigricans and tinea versicolor (infection with the yeast Pityrosporum), but can appear similar. Microscopic examination of skin biopsy shows epidermal undulation with hyperkeratosis, squat papillomatosis, and occasional acanthotic downward projections from the bases of the dells between papillomatous areas. Antibacterial agents such as minocycline and azithromycin are effective, perhaps due to their antiinflammatory and immunomodulatory properties (summary by Scheinfeld, 2006).|OMIM|N|
C0263386|A rare epidermal disease characterized by rough, dry skin with prominent, plate-like scaling. It is non-hereditary and usually arises during adulthood in the context of a variety of diseases or conditions, like various types of cancer, autoimmune diseases, endocrine disorders, nutritional deficiencies, but also as a side effect of certain medications. Severity depends on the underlying disease or condition.|ORDO|N|
C0263390|A rare lichen myxedematosus characterized by a progressive, generalized, papular, sclerodermoid cutaneous eruption usually occurring in association with monoclonal gammopathy, but in the absence of thyroid disease. Histological hallmark is the triad of dermal mucin deposition, fibroblast proliferation, and fibrosis. Patients present with relatively sudden onset of numerous closely spaced, waxy, firm papules and plaques predominantly involving the head, neck, trunk, and dorsal aspects of the extremities, on the background of thickened, edematous, erythematous skin with sclerodermoid appearance. Systemic involvement with cardiovascular, gastrointestinal, pulmonary, musculoskeletal, renal, or nervous system complications is common.|ORDO|N|
C0263398|Erythema elevatum diutinum (EED) is a distinctive form of chronic cutaneous vasculitis, belonging to the group of the neutrophilic dermatoses.|ORDO|N|
C0263401|A reticular discoloration of the skin with cyanotic (reddish-blue appearing) areas surrounding pale central areas due to dilation of capillary blood vessels and stagnation of blood within the vessels. Cutis marmorata generally occurs on the legs, arms and trunk and is often more severe in cold weather.|HPO|N|
C0263409|A type of localized scleroderma characterized by a long strip of indurated skin, which is typically found unilaterally on an arm or leg, and sometimes on the forehead or trunk. This disorder often affects the tissues beneath the skin, causing damage to bones, muscle or other organs. It can limit movement, alter growth, and disfigure the affected area.|NCI|N|
C0263417|The presence of convoluted folds and furrows formed from thickened skin of the scalp, resembling cerebriform pattern. The scalp has convoluted and elevated folds, 1 to 2 cm in thickness. The convolutions generally cannot be flattened by traction.|HPO|N|
C0263420|Hyperkeratosis lenticularis perstans (HLP) is a rare cutaneous disorder occurring in older persons and manifested by multiple benign pink to reddish-brown keratotic papules that primarily affect the extremities. The disorder was first described by Flegel (1958) (summary by Bean, 1972).|OMIM|N|
C0263421|An acrodermatitis characterized by a chronically progressive course, leading to widespread atrophy of the skin. It is a clinical manifestation of Lyme borreliosis.|MONDO|N|
C0263428|Keratosis pilaris atrophicans (KPA) represents a group of rare genodermatoses characterized by perifollicular keratosis and inflammation that progresses to atrophy and scarring of the facial skin. Keratosis pilaris of extensor surfaces of limbs is a common associated finding. Affected individuals may present with features that overlap between 3 subtypes, keratosis pilaris atrophicans faciei (KPAF), keratosis follicularis spinulosa decalvans (KFSD), and atrophoderma vermiculata (AVA; see 209700) (summary by Klar et al., 2015).|OMIM|N|
C0263429|Atrophoderma vermiculata, a form of keratosis pilaris atrophicans, typically presents in childhood with erythema and follicular keratotic papules that slowly progress to characteristic atrophy, which has been described as worm-eaten, reticular, or honeycomb, and occurs on the cheeks, preauricular area, and forehead. More rarely, the atrophy may extend to the upper lip, helices, ear lobes, and, in some cases, the limbs. The degree of inflammation, the presence of milia, and the extent of follicular plugs are variable (summary by Luria and Conologue, 2009).|OMIM|N|
C0263442|Severe and chronic form of acne characterized by large, burrowing abscesses associated with disfigurement.|MSH|N|
C0263449|A papular eruption of unknown etiology that progresses to residual papular erythema and scaling usually confined to the area of the mouth, and almost exclusively occurring in young women. It may also be localized or extend to involve the eyelids and adjacent glabella area of the forehead (periocular dermatitis). (Dorland, 28th ed)|MSH|N|
C0263454|ACNE-like skin eruptions caused by exposure to CHLORINE-containing compounds. Exposure can be by inhalation, ingestion, or through the skin. Chloracne is often seen in people who have occupational contact with chlorinated pesticides, wood preservatives, and sealants.|MSH|N|
C0263468|A miliaria that is characterized by ductal occlusion of the papillary dermis causing the gland's secretions to leak between the superficial and deep layers of the skin resulting in a rapidly-spreading flesh-colored rash.|MONDO|N|
C0263473|Secretion of colored sweat.|HPO|N|
C0263479|An alopecia areata that involves diffuse loss of hair over the whole scalp.|MONDO|N|
C0263482|The hairy ears trait consists of long hairs growing from the helix of the pinna; see Dronamraju (1964) and Stern et al. (1964).|OMIM|N|
C0263485|Trichorrhexis nodosa is the formation of nodes along the hair shaft through which breakage readily occurs. It is thus a focal defect in the hair fiber that is characterized by thickening or weak points (nodes) that cause the hair to break off easily. The result is defective, abnormally fragile hair.|HPO|N|
C0263486|A rare hair disorder characterized by the appearance of lustreless, curly, frizzy, and coarse hair generally during adolescence predominantly in the frontal, temporal, and vertex regions of the scalp. Eyelashes, as well as growth and pigmentation of the hair, may also be affected.|ORDO|N|
C0263487|Trichostasis spinulosa (TS) is a condition where instead of one hair protruding from a hair follicle, a bundle or bush of hair come out of a single follicle. This results in elevated, dark spiny papules on the head, face (usually the nose), and trunk. In this condition, there are numerous tiny open pores filled with multiple tiny short hairs, usually only visible with a magnifying glass. TS usually does not cause problems andmay only be noticed as an incidental finding. The exact cause is unknown.|MONDO|N|
C0263489|Pili annulati, or 'ringed hair,' is a disorder in which scalp hairs show alternating light and dark bands. It is often an incidental finding, and the hair usually does not show increased fragility (Green et al., 2004).
See also pseudopili annulati (613241), a distinct entity.|OMIM|N|
C0263490|Fragile, easily breakable hair, i.e., with reduced tensile strength.|HPO|N|
C0263491|Pili (from Latin pilus, hair) torti (from Latin tortus, twisted) refers to short and brittle hairs that appear flattened and twisted when viewed through a microscope.|HPO|N|
C0263498|Development of gray hair at a younger than normal age.|HPO|N|
C0263504|Loss of all scalp hair.|HPO|N|
C0263505|Alopecia areata is a common disorder that causes hair loss. "Alopecia" is a Latin term that means baldness, and "areata" refers to the patchy nature of the hair loss that is typically seen with this condition.\n\nIn most people with alopecia areata, hair falls out in small, round patches, leaving coin-sized areas of bare skin. This patchy hair loss occurs most often on the scalp but can affect other parts of the body as well. Uncommonly, the hair loss involves the entire scalp (in which case the condition is known as alopecia totalis) or the whole body (alopecia universalis). Other rare forms of alopecia areata, which have different patterns of hair loss, have also been reported.\n\nAlopecia areata affects people of all ages, although it most commonly appears in adolescence or early adulthood. Hair loss occurs over a period of weeks. The hair usually grows back after several months, although it may fall out again. In some cases, unpredictable cycles of hair loss followed by regrowth can last for years. In addition to hair loss, some affected individuals have fingernail and toenail abnormalities, such as pits on the surface of the nails.\n\nThe hair loss associated with alopecia areata is not painful or disabling. However, it causes changes in a person's appearance that can profoundly affect quality of life and self-esteem. In some people, the condition can lead to depression, anxiety, and other emotional or psychological issues.|MedlinePlus Genetics|N|
C0263506|Perifolliculitis capitis abscedens et suffodiens is a chronic inflammatory disease of the scalp characterized by the presence of large and small nodules that suppurate and intercommunicate by sinus formation. It may be more frequent in black males than in others (summary by McMullan and Zeligman, 1956).|OMIM|N|
C0263518|A type of hair loss characterized by an abnormal increase in dormant, telogen stage hair follicles.|HPO|N|
C0263519|An abnormal loss of anagen (growth phase) hairs.|HPO|N|
C0263523|A nail that is diminished in length and width, i.e., underdeveloped nail.|HPO|N|
C0263526|The presence of a depressed line ("canal") in the center of the nail.|HPO|N|
C0263530|A nail plate that has a longitudinal separation and the two sections of the nail share the same lateral radius of curvature.|HPO|N|
C0263534|A nail dystrophy that is preseents as grooved lines that run from side to side on the fingernail or the toenail that may look like indentations or ridges on the nail plate. They are caused by temporary disruption in the growth of proximal nail matrix. Trauma is usually the initiating factor such as infections, severe medical illnesses, major surgery/anesthesia, medication side effects, and autoimmune disease.|HPO|N|
C0263536|Thickened nails without deformity.|HPO|N|
C0263537|Nail that appears thick when viewed on end.|HPO|N|
C0263540|Complete shedding (separation) of the nail from the proximal matrix. Onychomadesis is the proximal separation of the nail plate from the nail matrix due to a temporary cessation of nail growth.|HPO|N|
C0263579|A benign lesion that is sometimes congenital and consists of an overgrowth of the epidermis and the presence of melanin-containing cells. It is found mostly in males and typically develops during childhood or adolescence, becoming darker and more hairy after puberty.|NCI|N|
C0263591|A rare, systemic disease with skin involvement characterized by the onset of idiopathic lupus erythematosus-like signs and symptoms resulting from continuous drug intake (>1 month), which resolve when treatment is discontinued, in persons with no history of autoimmune disease. Manifestations are variable and may be systemic (e.g. arthralgia, myalgia, fever, fatigue, serositis, pleuritis, pericarditis), subacute cutaneous (incl. photosensitive, non-scarring, annular, polycyclic or papulosquamous lesions, malar erythema, vasculitis, bullous lesions, erythema multiforme-like changes), and/or chronic cutaneous (typically discoid lesions in sun-exposed areas). Procainamide and hydralazine are the drugs most frequently implicated.|ORDO|N|
C0263610|Urticaria in response to exposure to ultraviolet-A (UVA), ultraviolet-B (UVB), visible and rarely infrared light.|HPO|N|
C0263625|Deposition of calcium salts in subcutaneous tissue (i.e., the the lowermost layer of the integument).|HPO|N|
C0263627|X-linked form of chondrodysplasia punctata.|MONDO|N|
C0263628|A phosphocalcic metabolism anomaly, occuring particularly among younger age groups, characterized by the presence of calcified masses in the juxta-articular regions (hip, elbow, ankle and scapula) without joint involvement. Histologically, lesions display collagen necrobiosis, followed by cyst formation and a foreign-body response with calcification. Two forms have been described: normocalcemic tumoral calcinosis and familial tumoral calcinosis.|ORDO|N|
C0263637|A benign congenital skin disease characterised by progressive dilation of the subepidermal skin vessels manifesting as purple punctate lesions usually appearing on the lower limbs and buttocks and following the lines of Blaschko.|ORDO|N|
C0263639|A type of angiokeratoma that most commonly occurs on the scrotum of patients who are 40 years old or older. The typical single lesion is a dark red to blue dome-shaped papule 2-4 mm in diameter with a very discrete keratotic surface. Typically, they are multiple and arranged in a line parallel to the raphe mediana of the scrotum. They also occur on the vulva and less commnly on the penis.|HPO|N|
C0263640|A type of angiokeratoma that typically presents in women on the dorsa of fingers and toes and multiple dark red papules with a slightly verrucous surface, each measuring about 3-5 mm in diameter.|HPO|N|
C0263641|A hyperplasia of the epidermis.|NCI|N|
C0263654|Flesh-colored or yellowish papules, 2 mm or larger, that are responses to internal mechanical pressure and weakness in the connective tissue in the dermis, appear commonly over the medial aspect of the heel, but in some cases on the wrists. They are thought to represent herniations of adipose tissue through the plantar fascia retinaculum.|HPO|N|
C0263661|A disease involving the skeletal system.|MONDO|N|
C0263664|A type of morphea characterized by four or more plaques found in two or more anatomic locations. The plaques are indurated, generally well-delineated, and may include muscle atrophy in affected areas; there is no visceral involvement.|NCI|N|
C0263666|An early-onset form of dermatomyositis (DM), a systemic, autoimmune inflammatory muscle disorder with vasculopathy, characterized by proximal and symmetrical muscle weakness, evocative skin lesions, and systemic manifestations. Vasculopathy occurs in the skin, muscle (mainly in the perifascicular area), and sometimes in the intestinal tissue.|ORDO|N|
C0263725|A form of arthritis that affects hemophiliacs, which is characterized by bleeding into the joint space.|NCI|N|
C0263746|Osteoarthritis of the hands usually happens as part of nodal osteoarthritis (a form of osteoarthritis that runs in families). This mainly affects women and often starts in your 40s or 50s, around the menopause (the time when menstruation ends and it’s no longer possible to have children).|MONDO|N|
C0263780|Bony swelling of the proximal interphalangeal joint (PIP) associated with the formation of osteophytes (calcific spurs) of the articular (joint) cartilage that are visible radiographically.|HPO|N|
C0263852|Degenerative arthritis of the spinal column.|NCI|N|
C0263854|Arthritis of the cervical spine.|NCI|N|
C0263859|A rare, pyogenic autoinflammatory disease, characterized by the association of neutrophilic cutaneous involvement and chronic nonbacterial osteomyelitis.|ORDO|N|
C0263870|Decreased height of the intervertebral disk.|HPO|N|
C0263872|Any degenerative disorder affecting one or more vertebral discs of the thoracic spine.|NCI|N|
C0263874|Any degenerative disorder affecting one or more vertebral discs of the lumbar spine.|NCI|N|
C0263888|Disorder of back including back of neck.|SNOMEDCT_US|N|
C0263905|Partial dislocation of the atlantoaxial joint.|HPO|N|
C0263907|Inflammation or irritation of a JOINT CAPSULE.|MSH|N|
C0263912|Tear of one or more of the tendons of the four rotator cuff muscles of the shoulder. A rotator cuff 'injury' can include any type of irritation or overuse of those muscles or tendons, and is among the most common conditions affecting the shoulder.|MONDO|N|
C0263925|Horn-like malformations of the iliac crests with symmetrical bilateral central posterior iliac processes. A characteristic finding in the Nail-Patella syndrome. Iliac horns are visible on X-ray and may be palpable, but are asymptomatic.|HPO|N|
C0263933|Inflammation of the Achilles tendon.|HPO|N|
C0263945|A disease or disorder that involves the layer of synovial tissue.|MONDO|N|
C0263946|A disease or disorder that involves the synovial bursa.|MONDO|N|
C0263962|A bursitis that involves the olecranon.|MONDO|N|
C0263976|A disease or disorder that involves the ligament.|MONDO|N|
C0263978|A non-neoplastic or neoplastic disorder that affects the soft tissue.|NCI|N|
C0263979|A rare acquired skeletal muscle disease characterized by diffuse muscle infection without an intramuscular abscess. Although a wide variety of bacteria can be causative, the majority of cases are due to streptococcal infection. Signs and symptoms depend on the underlying infectious agent and include muscular pain, swelling, weakness, rash, acute rhabdomyolysis, myonecrosis, and gangrene.|ORDO|N|
C0264000|Skoog (1948) defined knuckle pads as 'subcutaneous nodules on the dorsal aspect of the proximal interphalangeal joints.'|OMIM|N|
C0264005|Inflammation and thickening (localized fibrosis) of the fascia, the tissue under the skin and over the muscle, typically associated with a build up of eosinophils in the muscles and tissues.|HPO|N|
C0264080|Idiopathic juvenile osteoporosis (IJO) is a primary condition of bone demineralization that presents with pain in the back and extremities, walking difficulties, multiple fractures, and radiological evidence of osteoporosis.|ORDO|N|
C0264081|Thiemann disease is a rare disorder that is considered to be a form of avascular necrosis of the proximal interphalangeal joints of the fingers and toes. The clinical symptoms usually appear in adolescence (Kotevoglu-Senerdem et al., 2003).|OMIM|N|
C0264099|A rare bone disease characterized by avascular necrosis of a metatarsal head, most commonly involving the second, but also the third or fourth, metatarsal. Patients may present with pain on weight-bearing, swelling, and tenderness. Radiological features include widening of the metatarsophalangeal joint space and flattening of the affected metatarsal head, at later stages metatarsal head sclerosis, cortical thickening, and intra-articular loose bodies. The condition can be bilateral in some cases and shows a significant predilection for females in the second or third decade of life.|ORDO|N|
C0264110|Inflammation of a bony outgrowth located near the attachment site for muscles.|NCI|N|
C0264112|An abnormal shape of the vertebral bodies whereby the vertebral bodies are thick on one side and taper to a thin edge at the other.|HPO|N|
C0264134|Osteoarthritis of the metatarsophalangeal joint of the first toe.|HPO|N|
C0264142|For children from birth to 4 years of age the palm width is more than 2 SD above the mean; for children from 4 to 16 years of age the palm width is above the 95th centile; or, the width of the palm appears disproportionately wide for the length.|HPO|N|
C0264162|An abnormal forward-flexed posture e.g. forward flexion of the spine, which is noticeable when standing or walking but disappears when lying down. It is becoming an increasingly recognized feature of Parkinson's disease and dystonic disorders.|HPO|N|
C0264169|Nasal ridge curving posteriorly to an imaginary line that connects the nasal root and tip.|HPO|N|
C0264172|A rounded, bulging chest that resembles the shape of a barrel. That is, there is an increased anteroposterior diameter and usually some degree of kyphosis.|HPO|N|
C0264202|Impaired or altered function of related components of the body framework system: skeletal, arthrodial and myofascial structures, and their related vascular, lymphatic and neural elements. It is characterised by positional asymmetry, restricted range of motion, tissue texture abnormalities, and/or tenderness. The positional and motion aspects of somatic dysfunction are generally described by: (1) The position of a body part as determined by palpation and referenced to its defined adjacent structure, (2) The directions in which motion is freer, and (3) The directions in which motion is restricted. Somatic dysfunction is treatable using osteopathic manipulative treatment.|SNOMEDCT_US|N|
C0264221|A disease involving the upper respiratory tract.|MONDO|N|
C0264231|A polyp that arises from the paranasal sinus mucosa. Causes include allergic rhinitis, chronic sinusitis, and cystic fibrosis. It is characterized by the presence of edematous tissue infiltrated by inflammatory cells, including eosinophils.|NCI|N|
C0264233|Epithelium-lined, mucus-containing cystic masses filling one or more of the paranasal sinuses.|NCI|N|
C0264239|A polyp that arises from the maxillary sinus mucosa. It is characterized by the presence of edematous tissue infiltrated by inflammatory cells, including eosinophils. Causes include allergic rhinitis, chronic sinusitis, and cystic fibrosis.|NCI|N|
C0264248|A polyp that arises from the ethmoid sinus mucosa. It is characterized by the presence of edematous tissue infiltrated by inflammatory cells, including eosinophils. Causes include allergic rhinitis, chronic sinusitis, and cystic fibrosis.|NCI|N|
C0264255|A polyp that arises from the sphenoid sinus mucosa. It is characterized by the presence of edematous tissue infiltrated by inflammatory cells, including eosinophils. Causes include allergic rhinitis, chronic sinusitis, and cystic fibrosis.|NCI|N|
C0264267|An open sore of the nasal mucosa.|HPO|N|
C0264272|Chronic rhinitis accompanied by pus formation.|HPO|N|
C0264290|Cellulitis of the pharynx.|NCI|N|
C0264291|A cervical cyst that occurs as a result of the persistence of one or more of the pharyngeal grooves.|NCI|N|
C0264303|Laryngomalacia is a congenital abnormality of the laryngeal cartilage in which the cartilage is floppy and prolapses over the larynx during inspiration.|HPO|N|
C0264306|Blockage of the upper airway at the level of the larynx often accompanied by respiratory distress.|HPO|N|
C0264309|A disorder affecting the vocal cords. Representative examples include vocal cord nodules, polyps, leukoplakia, dysplasia, and paralysis.|NCI|N|
C0264313|A clinical term that indicates the presence of a white patch on the mucosal surface of the vocal cords. In most cases histologic examination reveals keratosis.|NCI|N|
C0264324|Calcification (abnormal deposits of calcium) in the tracheal tissues.|HPO|N|
C0264342|A lymphatic flow disorder that causes severe respiratory issues. In children with plastic bronchitis, lymph fluid builds in the airways and forms rubbery or caulk-like plugs (known as casts). These casts block the airways, making it difficult to breathe.|MONDO|N|
C0264353|Weakness or softness of the cartilage in the walls of the bronchial tubes.|HPO|N|
C0264361|Distortion of the bronchial airways due to mechanical traction on the bronchi resulting from fibrosis of the surrounding lung parenchyma. CT findings represent irregular bronchial dilatation caused by surrounding retractile pulmonary fibrosis. Dilated airways are usually identifiable as such but may be seen as cysts.|HPO|N|
C0264362|A bronchocele is bronchial dilatation due to retained secretions (mucoid impaction) usually caused by proximal obstruction, either congenital (eg, bronchial atresia) or acquired (eg, obstructing cancer). A bronchocele is a tubular or branching Y-or V-shaped structure that may resemble a gloved finger. The CT attenuation of the mucus is generally that of soft tissue but may be modified by its composition (eg, high-attenuation material in allergic bronchopulmonary aspergillosis). In the case of bronchial atresia, the surrounding lung may be of decreased attenuation because of reduced ventilation and, thus, perfusion.|HPO|N|
C0264363|Bronchial diverticula are blind-ended outpouchings arising from the bronchial tree. They are commonly pulsion diverticula acquired related to chronic cough. Subcarinal air cyst is thought to represent a small main bronchial diverticulum.|HPO|N|
C0264372|Saccular dilatation of the terminal bronchioles.|HPO|N|
C0264383|Organizing pneumonia manifests as a histologic pattern characterized by loose plugs of connective tissue in the airspaces and distal airways. Interstitial inflammation and fibrosis are minimal or absent. Cryptogenic organizing pneumonia, or COP, is a distinctive clinical disorder among the idiopathic interstitial pneumonias, but the histologic pattern of organizing pneumonia is encountered in many different situations, including pulmonary infection, hypersensitivity pneumonitis, and collagen vascular diseases. Airspace consolidation is the cardinal feature of organizing pneumonia on chest radiographs and CT scans. In COP, the distribution is typically subpleural and basal and sometimes bronchocentric. Other manifestations of organizing pneumonia include groundglass opacity, tree-in-bud pattern, and nodular opacities.|HPO|N|
C0264393|Panacinar emphysema involves all portions of the acinus and secondary pulmonary lobule more or less uniformly. It predominates in the lower lobes and is the form of emphysema associated with1-antitrypsin deficiency. CT scans show a generalized decrease of the lung parenchyma with a decrease in the caliber of blood vessels in the affected lung. Severe panacinar emphysema may coexist and merge with severe centrilobular emphysema. The appearance of feature less decreased attenuation may be indistinguishable from severe constrictive obliterative bronchiolitis.|HPO|N|
C0264394|Paraseptal emphysema is characterized by predominant involvement of the distal alveoli and their ducts and sacs. It is characteristically bounded by any pleural surface and the interlobular septa. This emphysema is characterized by subpleural and peribronchovascular regions of low attenuation separated by intact interlobular septa, sometimes associated with bullae.|HPO|N|
C0264395|A rare syndrome characterized by the presence of a small lung as a result of unilateral post-infectious bronchiolitis obliterans.|NCI|N|
C0264408|Asthma that starts in childhood.|MONDO|N|
C0264423|Asthma attacks caused, triggered, or exacerbated by OCCUPATIONAL EXPOSURE.|MONDO|N|
C0264435|Pneumoconiosis caused by inhalation of kaolin dust.|NCI|N|
C0264490|Life-threatening respiratory failure that develops rapidly. Causes include injury, sepsis, drug overdose, and pancreatitis. It manifests with dyspnea and cyanosis and may lead to cardiovascular shock.|NCI|N|
C0264495|Linear atelectasis is a focal area of subsegmental atelectasis with a linear configuration, almost always extending to the pleura. It is commonly horizontal but sometimes oblique or vertical. The thickness of the atelectasis may range from a few millimeters to more than 1 cm.|HPO|N|
C0264510|A type of lipoid pneumonia in which the source of the lipids is the body itself. When an airway is obstructed, it is often the case that distal to the obstruction, lipid-laden macrophages and giant cells fill the lumen of the disconnected airspace.|HPO|N|
C0264511|Lymphocytic interstitial pneumonitis is a benign lymphoproliferative disorder of the lung that is characterized by the presence of a dense, predominantly lymphocytic interstitial infiltrate (lymphocytes, plasma cells, other elements of the lymphoreticular system) that expands the alveolar septa.|HPO|N|
C0264515|Severe complication of pneumonia characterized by liquefaction of lung tissue.|MSH|N|
C0264517|Cellular death affecting one or more parts of the lung. Necrosis is caused by diverse external and internal factors which result in the unregulated digestion of cell components.|HPO|N|
C0264545|An increase in the thickness of the pleura, generally related to scarring of the pleural tissue.|HPO|N|
C0264573|A rare systemic autoimmune disease characterized by an aggressive fibroinflammatory process with infiltration of IgG4-positive plasma cells in the mediastinum, potentially resulting in compression and functional impairment of vital mediastinal structures, and associated with elevated serum IgG4. Clinical symptoms are unspecific and include pain or symptoms due to mass effect. The condition may occur together with IgG4-related disease in other parts of the body.|ORDO|N|
C0264576|A deviation of the mediastinum from its normal position in the midline of the thoracic cavity. The mediastinum is a compartment of the thoracic cavity that contains the heart and its blood vessels, the esophagus, trachea, thymus, as well as nerves and lymph nodes.|HPO|N|
C0264611|A type of apraxia that is characterized by difficulty or inability to execute speech movements because of problems with coordination and motor problems, leading to incorrect articulation. An increase of errors with increasing word and phrase length may occur.|HPO|N|
C0264710|Acute form of subendocardial myocardial infarction.|MONDO|N|
C0264746|A rare movement disorder developed during pregnancy, characterized by involuntary jerky motion (chorea) and inability to maintain stable position of body parts (athetosis). rheumatic fever and collagen vascular disorders are frequently associated with this disease. Chorea may vary from mild to severe and occurs in approximately 1 per 2,000 to 3,000 pregnancies. (From Md Med J 1997 Sep;46(8):436-9)|MONDO|N|
C0264765|A rheumatologic disorder that involves the mitral valve.|MONDO|N|
C0264789|An instance of cardiomyopathy that is caused by an inherited modification of the individual's genome.|MONDO|N|
C0264797|An dilated cardiomyopathy caused by infection with Viruses.|MONDO|N|
C0264834|A disorder characterised by persistent eosinophilia and acute endocardial lesions, which may progress to endomyocardial fibrosis; most cases are idopathic, but there is some association with malignant tumors.|NCI|N|
C0264856|A rare cardiomyopathy characterized by progressive myocarditis with diffuse infiltration of cardiac tissue by lymphocytes, macrophages, multinuclear giant cells, and myocardial necrosis. Clinical presentation includes rapidly progressive heart failure, ventricular arrhythmias, complete heart block, and sudden cardiac death. Some patients have associated autoimmune disorders.|ORDO|N|
C0264879|Regurgitation of the blood of the heart valves owning to imperfect closing, insufficiency or incompetency of the valves.|NCI|N|
C0264882|A heart disorder characterized by a defect in tricuspid valve structure or function.|NCI|N|
C0264885|Myxomatous mitral valve is defined as the presence of excess leaflet tissue and leaflet thickening greater than 5 mm, resulting in a prolapse greater than 2 mm into the left atrium on parasternal long axis view.|HPO|N|
C0264886|Any abnormal alteration of atrioventricular conduction.|SNOMEDCT_US|N|
C0264893|An electrocardiographic finding of an arrhythmia originating from within the atrioventricular node.|NCI|N|
C0264897|Extra impulse-conducting tissue in the heart that creates abnormal impulse-conducting connections between HEART ATRIA and HEART VENTRICLES.|MSH|N|
C0264902|An electrocardiographic finding of premature ventricular complexes which have a single distinct morphology, suggesting origin at one ventricular site.|NCI|N|
C0264906|An intermittent atrioventricular block with failure of some atrial impulses to conduct to the ventricles, i.e., some but not all atrial impulses are conducted through the atrioventricular node and trigger ventricular contraction.|HPO|N|
C0264907|Progressive PR interval prolongation with the subsequent occurrence of a single nonconducted P wave that results in a pause. The pause that follows the nonconducted impulse is less than fully compensatory (less than the sum of two normal sinus intervals).|HPO|N|
C0264912|Conduction block in the anterior division of the left bundle branch of the bundle of His.|HPO|N|
C0264913|Conduction block in the posterior division of the left bundle branch of the bundle of His.|HPO|N|
C0264914|An electrocardiographic finding comprising right bundle branch block and left anterior fascicular block, or right bundle branch block and left posterior fascicular block. Defects occurring in two of the three divisions of the conduction system of the heart are considered bifascicular blocks. Technically left bundle branch block may be considered a bifascicular block.|NCI|N|
C0264936|Pulmonary hypertension that is caused by an underlying condition.|NCI|N|
C0264939|A heterogeneous group of diseases characterized by inflammation and necrosis of the blood vessel walls.|MSH|N|
C0264964|An abnormal balloon- or sac-like dilatation in the wall of the POPLITEAL ARTERY located behind the KNEE JOINT.|MSH|N|
C0264965|An abnormal widening (dilatation) of the common carotid artery.|HPO|N|
C0264995|Blockage of blood flow through an artery.|HPO|N|
C0265004|A pathologic widening of the aortic lumen. It is often associated with hypertensive vascular disease and may progress to dissection and rupture.|NCI|N|
C0265010|A ruptured aneurysm located in the wall of the proximal portion of the descending aorta proceeding from the arch of the aorta.|NCI|N|
C0265012|A ruptured aneurysm located in the portion of the descending aortic wall that is within the abdomen.|NCI|N|
C0265027|A abnormal, congenital formation or mark on the skin or neighboring mucosa that does not show neoplastic growth.|NCI|N|
C0265031|Bleeding from the hemorrhoids.|NCI|N|
C0265034|A hemorrhoid which originates above the dentate line.|NCI|N|
C0265040|A hemorrhoid which originates below the dentate line.|NCI|N|
C0265050|The formation of a thrombus in the vena cava.|NCI|N|
C0265066|A thrombophlebitis that involves the femoral vein.|MONDO|N|
C0265101|Complete obstruction of a carotid artery.|HPO|N|
C0265122|A disease involving the pericardium.|MONDO|N|
C0265152|Inflammation of the pericardium associated with chronic kidney failure.|NCI|N|
C0265191|A condition that is caused by trauma to the lymph system, which disrupts the normal flow of lymph fluid. This is most often due to surgery that requires lymph node removal or a large amount of lymph tissue. This disruption is especially apparent if the lymph nodes under the arm and arm and around the breast are compromised due to breast cancer surgery, diagnostic dissection, mastectomy, or radiation.|NCI|N|
C0265201|A rare autosomal recessive inherited syndrome. It is characterized by xeroderma pigmentosum, mental retardation, dwarfism, hypogonadism, and neurologic abnormalities.|NCI|N|
C0265202|A rare form of microcephalic primordial dwarfism characterized by a proportionate dwarfism of prenatal onset, a severe microcephaly, a typical dysmorphic face (bird-like), and mild to severe intellectual disability.|ORDO|N|
C0265205|A rare genetic syndrome with characteristics of limb shortening and abnormalities of the head, face and external genitalia. Two forms of the syndrome with different patterns of inheritance and variable frequency of clinical signs have been described: a milder autosomal dominant form and a more severe autosomal recessive form. The syndrome has a wide clinical spectrum. Transmission is autosomal dominant or recessive.|SNOMEDCT_US|N|
C0265210|EZH2-related overgrowth includes EZH2-related Weaver syndrome at one end of the spectrum and tall stature at the other. Although most individuals diagnosed with a heterozygous EZH2 pathogenic variant have been identified because of a clinical suspicion of Weaver syndrome, a minority have been identified through molecular genetic testing of family members of probands or individuals with overgrowth who did not have a clinical diagnosis of Weaver syndrome. Thus, the extent of the phenotypic spectrum associated with a heterozygous EZH2 pathogenic variant is not yet known. Weaver syndrome is characterized by tall stature, variable intellect (ranging from normal intellect to severe intellectual disability), characteristic facial appearance, and a range of associated clinical features including advanced bone age, poor coordination, soft doughy skin, camptodactyly of the fingers and/or toes, umbilical hernia, abnormal tone, and hoarse low cry in infancy. Brain MRI has identified abnormalities in a few individuals with EZH2-related overgrowth. Neuroblastoma occurs at a slightly increased frequency in individuals with a heterozygous EZH2 pathogenic variant but data are insufficient to determine absolute risk. There is currently no evidence that additional malignancies (including hematologic malignancies) occur with increased frequency.|GeneReviews|N|
C0265211|The Marshall-Smith syndrome (MRSHSS) is a malformation syndrome characterized by accelerated skeletal maturation, relative failure to thrive, respiratory difficulties, mental retardation, and unusual facies, including prominent forehead, shallow orbits, blue sclerae, depressed nasal bridge, and micrognathia (Adam et al., 2005).|OMIM|N|
C0265213|An inherited primary limb malformation disorder characterized by congenital contractures of two or more different body areas and without primary neurologic and/or muscle disease that affects limb function.|HPO|N|
C0265215|A rare, lethal, genetic, multiple congenital anomaly disorder characterized by the triad of brain malformation (mainly occipital encephalocele), large polycystic kidneys, and polydactyly, as well as associated abnormalities that may include cleft lip/palate, cardiac and genital anomalies, central nervous system (CNS) malformations, liver fibrosis, and bone dysplasia.|ORDO|N|
C0265216|L1 syndrome involves a phenotypic spectrum ranging from severe to mild and includes three clinical phenotypes: X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS). MASA (mental retardation [intellectual disability], aphasia [delayed speech], spastic paraplegia [shuffling gait], adducted thumbs) syndrome including X-linked complicated hereditary spastic paraplegia type 1. X-linked complicated corpus callosum agenesis. Males with HSAS are born with severe hydrocephalus, adducted thumbs, and spasticity; intellectual disability is severe. In less severely affected males, hydrocephalus may be subclinically present and documented only because of developmental delay; intellectual disability ranges from mild (IQ: 50-70) to moderate (IQ: 30-50). It is important to note that all phenotypes can be observed in affected individuals within the same family.|GeneReviews|N|
C0265218|Neu-Laxova syndrome is an autosomal recessive lethal multiple malformation syndrome characterized by ichthyosis, marked intrauterine growth restriction, microcephaly, short neck, central nervous system anomalies (lissencephaly, cerebellar hypoplasia and/or abnormal/agenesis of the corpus callosum), limb deformities, hypoplastic lungs, edema, and abnormal facial features including severe proptosis with ectropion, hypertelorism, micrognathia, flattened nose, and malformed ears (summary by Manning et al., 2004).
Genetic Heterogeneity of Neu-Laxova Syndrome
NLS2 (616038) is caused by mutation in the PSAT1 gene (610936) on chromosome 9q21.|OMIM|N|
C0265219|PAFAH1B1-related lissencephaly/subcortical band heterotopia (SBH) comprises a spectrum of severity. Affected newborns typically have mild-to-moderate hypotonia, feeding difficulties, and poor head control. During the first years, neurologic examination typically demonstrates poor visual tracking and response to sounds, axial hypotonia, and mild distal spasticity that can transition over time to more severe spasticity. Seizures occur in more than 90% of individuals with lissencephaly and often include infantile spasms. Seizures are often drug resistant, but even with good seizure control, the best developmental level achieved (excluding the few individuals with partial lissencephaly) is the equivalent of about age three to five months. In individuals with PAFAH1B1-related lissencephaly/SBH, developmental delay ranges from mild to severe. Other findings in PAFAH1B1-related lissencephaly/SBH include feeding issues and aspiration (which may result in need for gastrostomy tube placement), progressive microcephaly, and occasional developmental regression.|GeneReviews|N|
C0265220|GLI3-related Pallister-Hall syndrome (GLI3-PHS) is characterized by a spectrum of anomalies ranging from polydactyly, asymptomatic bifid epiglottis, and hypothalamic hamartoma at the mild end to laryngotracheal cleft with neonatal lethality at the severe end. Individuals with mild GLI3-PHS may be incorrectly diagnosed as having isolated postaxial polydactyly type A. Individuals with GLI3-PHS can have pituitary insufficiency and may die as neonates from undiagnosed and untreated adrenal insufficiency.|GeneReviews|N|
C0265221|Walker-Warburg syndrome is an inherited disorder that affects development of the muscles, brain, and eyes. It is the most severe of a group of genetic conditions known as congenital muscular dystrophies, which cause muscle weakness and wasting (atrophy) beginning very early in life. The signs and symptoms of Walker-Warburg syndrome are present at birth or in early infancy. Because of the severity of the problems caused by Walker-Warburg syndrome, most affected individuals do not survive past childhood.\n\nWalker-Warburg syndrome affects the skeletal muscles, which are muscles the body uses for movement. Affected babies have weak muscle tone (hypotonia) and are sometimes described as "floppy." The muscle weakness worsens over time.\n\nWalker-Warburg syndrome also affects the brain; individuals with this condition typically have a brain abnormality called cobblestone lissencephaly, in which the surface of the brain lacks the normal folds and grooves and instead develops a bumpy, irregular appearance (like that of cobblestones). These individuals may also have a buildup of fluid in the brain (hydrocephalus) or abnormalities of certain parts of the brain, including a region called the cerebellum and the part of the brain that connects to the spinal cord (the brainstem). These changes in the structure of the brain lead to significantly delayed development and intellectual disability. Some individuals with Walker-Warburg syndrome experience seizures.\n\nEye abnormalities are also characteristic of Walker-Warburg syndrome. These can include unusually small eyeballs (microphthalmia), enlarged eyeballs caused by increased pressure in the eyes (buphthalmos), clouding of the lenses of the eyes (cataracts), and problems with the nerve that relays visual information from the eyes to the brain (the optic nerve). These eye problems lead to vision impairment in affected individuals.|MedlinePlus Genetics|N|
C0265222|An association of DIABETES MELLITUS with Prader-Willi Syndrome.|MSH|N|
C0265223|Cohen syndrome is characterized by failure to thrive in infancy and childhood; truncal obesity in the teen years; early-onset hypotonia and developmental delays; microcephaly developing during the first year of life; moderate to profound psychomotor retardation; progressive retinochoroidal dystrophy and high myopia; neutropenia in many with recurrent infections and aphthous ulcers in some; a cheerful disposition; joint hypermobility; and characteristic facial features.|GeneReviews|N|
C0265224|Freeman-Sheldon syndrome (FSS), or DA2A, is phenotypically similar to DA1. In addition to contractures of the hands and feet, FSS is characterized by oropharyngeal abnormalities, scoliosis, and a distinctive face that includes a very small oral orifice (often only a few millimeters in diameter at birth), puckered lips, and an H-shaped dimple of the chin; hence, FSS has been called 'whistling face syndrome.' The limb phenotypes of DA1 and FSS may be so similar that they can only be distinguished by the differences in facial morphology (summary by Bamshad et al., 2009).
For a general phenotypic description and a discussion of genetic heterogeneity of distal arthrogryposis, see DA1 (108120).|OMIM|N|
C0265226|The trismus-pseudocamptodactyly syndrome is a distal arthrogryposis characterized by an inability to open the mouth fully (trismus) and pseudocamptodactyly in which wrist dorsiflexion, but not volar flexion, produces involuntary flexion contracture of distal and proximal interphalangeal joints. In these patients, trismus complicates dental care, feeding during infancy, and intubation for anesthesia, and the pseudocamptodactyly impairs manual dexterity, with consequent occupational and social disability (summary by Veugelers et al., 2004).|OMIM|N|
C0265227|Schinzel-Giedion syndrome is a highly recognizable syndrome characterized by severe mental retardation, distinctive facial features, and multiple congenital malformations including skeletal abnormalities, genitourinary and renal malformations, and cardiac defects, as well as a higher-than-normal prevalence of tumors, notably neuroepithelial neoplasia (summary by Hoischen et al., 2010).|OMIM|N|
C0265228|An autosomal recessive inherited disorder. It is characterized by arthrogryposis, facial anomalies, polyhydramnios, camptodactyly, intrauterine growth retardation, and pulmonary hypoplasia. Pulmonary hypoplasia is present in the vast majority of cases and is often the fatal component of this syndrome.|NCI|N|
C0265233|A rare congenital malformation mainly characterized by unilateral or bilateral cryptophthalmos, syndactyly and urogenital anomalies.|ORDO|N|
C0265234|A rare otomandibular dysplasia syndrome characterized by branchial arch anomalies (branchial clefts, fistulae, cysts), malformations of the ear associated with hearing impairment (malformations of the auricle with pre-auricular pits, conductive or sensorineural hearing impairment), and renal malformations (urinary tree malformation, renal hypoplasia or agenesis, renal dysplasia, renal cysts).|ORDO|N|
C0265235|Marshall syndrome (MRSHS) is characterized by midfacial hypoplasia, cleft palate, ocular anomalies including high myopia and cataracts, sensorineural hearing loss, short stature with spondyloepiphyseal dysplasia, and arthropathy. In contrast to Stickler syndrome type II, it has less severe eye findings but striking ocular hypertelorism, more pronounced maxillary hypoplasia, and ectodermal abnormalities (summary by Shanske et al., 1997 and Ala-Kokko and Shanske, 2009).|OMIM|N|
C0265239|Wildervanck syndrome is characterized by the triad of cervical vertebral fusion (Klippel-Feil anomaly, see this term), bilateral abducens palsy with retracted eyes (Duane syndrome, see this term) and congenital perceptive deafness.|ORDO|N|
C0265240|A rare congenital malformation syndrome, most commonly presenting with hemifacial microsomia associated with ear and/or eye malformations and vertebral anomalies of variable severity. Additional malformations involving the heart, kidneys, central nervous, digestive and skeletal systems may also be associated. The phenotypic spectrum ranges from isolated mild facial asymmetry to severe bilateral craniofacial microsomia and additional multiple extracranial abnormalities. Intelligence is typically normal. The aetiology is poorly understood but is suspected to be heterogeneous and multifactorial. The gene MYT1 (20q13.33) has been implicated in a few rare cases, and chromosomal abnormalities have been associated with some of the congenital malformations associated with this condition. The condition usually occurs sporadically, but autosomal dominant inheritance has been reported.|SNOMEDCT_US|N|
C0265242|Agnathia-otocephaly (AGOTC) is a rare condition characterized by mandibular hypoplasia or agnathia, ventromedial auricular malposition (melotia) and/or auricular fusion (synotia), and microstomia with oroglossal hypoplasia or aglossia. Holoprosencephaly is the most commonly identified association, but skeletal, genitourinary, and cardiovascular anomalies, and situs inversus have been reported. The disorder is almost always lethal (review by Faye-Petersen et al., 2006).|OMIM|N|
C0265245|Nager syndrome is the prototype for a group of disorders collectively referred to as the acrofacial dysostoses (AFDs), which are characterized by malformation of the craniofacial skeleton and the limbs. The major facial features of Nager syndrome include downslanted palpebral fissures, midface retrusion, and micrognathia, the latter of which often requires the placement of a tracheostomy in early childhood. Limb defects typically involve the anterior (radial) elements of the upper limbs and manifest as small or absent thumbs, triphalangeal thumbs, radial hypoplasia or aplasia, and radioulnar synostosis. Phocomelia of the upper limbs and, occasionally, lower-limb defects have also been reported. The presence of anterior upper-limb defects and the typical lack of lower-limb involvement distinguishes Nager syndrome from Miller syndrome (263750), another rare AFD; however, distinguishing Nager syndrome from other AFDs, including Miller syndrome, can be challenging (summary by Bernier et al., 2012).|OMIM|N|
C0265246|A rare genetic disorder characterized by the triad of imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations. These features are often associated with other signs mainly affecting the kidneys and heart.|ORDO|N|
C0265248|Ruvalcaba syndrome is an extremely rare malformation syndrome, described in less than 10 patients to date, characterized by microcephaly with characteristic facies (downslanting parpebral fissures, microstomia, beaked nose, narrow maxilla), very short stature, narrow thoracic cage with pectus carinatum, hypoplastic genitalia and skeletal anomalies (i.e. characteristic brachydactyly and osteochondritis of the spine) as well as intellectual and developmental delay.|ORDO|N|
C0265249|Mietens syndrome is a very rare syndrome consisting of corneal opacity, nystagmus, strabismus, flexion contracture of the elbows with dislocation of the head of the radius and abnormally short ulnae and radii.|ORDO|N|
C0265251|The X-linked otopalatodigital (X-OPD) spectrum disorders, characterized primarily by skeletal dysplasia, include the following: Otopalatodigital syndrome type 1 (OPD1). Otopalatodigital syndrome type 2 (OPD2). Frontometaphyseal dysplasia type 1 (FMD1). Melnick-Needles syndrome (MNS). Terminal osseous dysplasia with pigmentary skin defects (TODPD). In OPD1, most manifestations are present at birth; females can present with severity similar to affected males, although some have only mild manifestations. In OPD2, females are less severely affected than related affected males. Most males with OPD2 die during the first year of life, usually from thoracic hypoplasia resulting in pulmonary insufficiency. Males who live beyond the first year of life are usually developmentally delayed and require respiratory support and assistance with feeding. In FMD1, females are less severely affected than related affected males. Males do not experience a progressive skeletal dysplasia but may have joint contractures and hand and foot malformations. Progressive scoliosis is observed in both affected males and females. In MNS, wide phenotypic variability is observed; some individuals are diagnosed in adulthood, while others require respiratory support and have reduced longevity. MNS in males results in perinatal lethality in all recorded cases. TODPD, seen only in females, is characterized by a skeletal dysplasia that is most prominent in the digits, pigmentary defects of the skin, and recurrent digital fibromata.|GeneReviews|N|
C0265252|Coffin-Lowry syndrome (CLS) is usually characterized by severe-to-profound intellectual disability in males; less severely impaired individuals have been reported. Neuropsychiatric concerns can include behavioral problems, loss of strength, progressive spasticity or paraplegia, sleep apnea, or stroke. Stimulus-induced drop attacks (SIDAs) in which unexpected tactile or auditory stimuli or excitement triggers a brief collapse but no loss of consciousness are present in approximately 20% of affected individuals. Typically SIDAs begin between mid-childhood and the teens. Characteristic facial features may be more apparent with age. Upper-extremity differences may be subtle and include short, soft, fleshy hands with tapered fingers as well as fleshy forearms. Progressive kyphoscoliosis is one of the most difficult aspects of long-term care. Affected females tend to have intellectual disability in the mild-to-moderate range and may also have the typical facial, hand, and skeletal findings noted in males.|GeneReviews|N|
C0265253|Stickler syndrome is a connective tissue disorder that can include ocular findings of myopia, cataract, and retinal detachment; hearing loss that is both conductive and sensorineural; midfacial underdevelopment and cleft palate (either alone or as part of the Robin sequence); and mild spondyloepiphyseal dysplasia and/or precocious arthritis. Variable phenotypic expression of Stickler syndrome occurs both within and among families; interfamilial variability is in part explained by locus and allelic heterogeneity.|GeneReviews|N|
C0265257|Miller syndrome, or postaxial acrofacial dysostosis, is a rare autosomal recessive disorder characterized clinically by severe micrognathia, cleft lip and/or palate, hypoplasia or aplasia of the postaxial elements of the limbs, coloboma of the eyelids, and supernumerary nipples (summary by Ng et al., 2010).|OMIM|N|
C0265259|Most commonly, IRF6-related disorders span a spectrum from isolated cleft lip and palate and Van der Woude syndrome (VWS) at the mild end to popliteal pterygium syndrome (PPS) at the more severe end. In rare instances, IRF6 pathogenic variants have also been reported in individuals with nonsyndromic orofacial cleft (18/3,811; 0.47%) and in individuals with spina bifida (2/192). Individuals with VWS show one or more of the following anomalies: Congenital, usually bilateral, paramedian lower-lip fistulae (pits) or sometimes small mounds with a sinus tract leading from a mucous gland of the lip. Cleft lip (CL). Cleft palate (CP). Note: Cleft lip with or without cleft palate (CL±P) is observed about twice as often as CP only. Submucous cleft palate (SMCP). The PPS phenotype includes the following: CL±P. Fistulae of the lower lip. Webbing of the skin extending from the ischial tuberosities to the heels. In males: bifid scrotum and cryptorchidism. In females: hypoplasia of the labia majora. Syndactyly of fingers and/or toes. Anomalies of the skin around the nails. A characteristic pyramidal fold of skin overlying the nail of the hallux (almost pathognomonic). In some nonclassic forms of PPS: filiform synechiae connecting the upper and lower jaws (syngnathia) or the upper and lower eyelids (ankyloblepharon). Other musculoskeletal anomalies may include spina bifida occulta, talipes equinovarus, digital reduction, bifid ribs, and short sternum. In VWS, PPS, IRF6-related neural tube defect, and IRF6-related orofacial cleft, growth and intelligence are typical.|GeneReviews|N|
C0265260|Acromesomelic dysplasia-2A (AMD2A), or Grebe chondrodysplasia, is an autosomal recessive disorder characterized by severe abnormality of the limbs and limb joints. The severity of limb shortening progresses in a proximal-distal gradient, with the hands and feet being most affected. The fingers and toes lack articulation and appear as skin appendages. In contrast, axial skeletal structures and the craniofacial skeleton are not affected. Heterozygous individuals are of average stature and have mild skeletal abnormalities (summary by Thomas et al., 1997). Because Grebe syndrome exhibits increasing severity in a proximal-distal gradient, it is classified as a form of acromesomelic dysplasia (Costa et al., 1998).
For discussion of the genetic heterogeneity of acromesomelic dysplasia, see AMD1 (602875).|OMIM|N|
C0265261|Multiple pterygium syndromes comprise a group of multiple congenital anomaly disorders characterized by webbing (pterygia) of the neck, elbows, and/or knees and joint contractures (arthrogryposis) (Morgan et al., 2006). The multiple pterygium syndromes are phenotypically and genetically heterogeneous but are traditionally divided into prenatally lethal (253290) and nonlethal (Escobar) types.|OMIM|N|
C0265263|Femoral-facial syndrome (FFS), also known as femoral hypoplasia-unusual facies syndrome (FHUFS), is a rare and sporadic multiple congenital anomaly syndrome comprising bilateral femoral hypoplasia and characteristic facial features, such as long philtrum, thin upper lip, micrognathia with or without cleft palate, upward-slanting palpebral fissures, and a short nose with broad tip. Other features, such as renal anomalies, are more variable (summary by Nowaczyk et al., 2010).|OMIM|N|
C0265264|Holt-Oram syndrome (HOS) is characterized by upper-limb defects, congenital heart malformation, and cardiac conduction disease. Upper-limb malformations may be unilateral, bilateral/symmetric, or bilateral/asymmetric and can range from triphalangeal or absent thumb(s) to phocomelia. Other upper-limb malformations can include unequal arm length caused by aplasia or hypoplasia of the radius, fusion or anomalous development of the carpal and thenar bones, abnormal forearm pronation and supination, abnormal opposition of the thumb, sloping shoulders, and restriction of shoulder joint movement. An abnormal carpal bone is present in all affected individuals and may be the only evidence of disease. A congenital heart malformation is present in 75% of individuals with HOS and most commonly involves the septum. Atrial septal defect and ventricular septal defect can vary in number, size, and location. Complex congenital heart malformations can also occur in individuals with HOS. Individuals with HOS with or without a congenital heart malformation are at risk for cardiac conduction disease. While individuals may present at birth with sinus bradycardia and first-degree atrioventricular (AV) block, AV block can progress unpredictably to a higher grade including complete heart block with and without atrial fibrillation.|GeneReviews|N|
C0265265|Blackfan-Diamond anemia (DBA) is a congenital aregenerative and often macrocytic anemia with erythroblastopenia.|ORPHANET|N|
C0265267|The NSDHL-related disorders include: CHILD (congenital hemidysplasia with ichthyosiform nevus and limb defects) syndrome, an X-linked condition that is usually male lethal during gestation and thus predominantly affects females; and CK syndrome, an X-linked disorder that affects males. CHILD syndrome is characterized by unilateral distribution of ichthyosiform (yellow scaly) skin lesions and ipsilateral limb defects that range from shortening of the metacarpals and phalanges to absence of the entire limb. Intellect is usually normal. The ichthyosiform skin lesions are usually present at birth or in the first weeks of life; new lesions can develop in later life. Nail changes are also common. The heart, lung, and kidneys can also be involved. CK syndrome (named for the initials of the original proband) is characterized by mild to severe cognitive impairment and behavior problems (aggression, attention deficit hyperactivity disorder, and irritability). All affected males reported have developed seizures in infancy and have cerebral cortical malformations and microcephaly. All have distinctive facial features, a thin habitus, and relatively long, thin fingers and toes. Some have scoliosis and kyphosis. Strabismus is common. Optic atrophy is also reported.|GeneReviews|N|
C0265268|Adams-Oliver syndrome (AOS) is characterized by aplasia cutis congenita (ACC) of the scalp and terminal transverse limb defects (TTLD). ACC lesions usually occur in the midline of the parietal or occipital regions, but can also occur on the abdomen or limbs. At birth, an ACC lesion may already have the appearance of a healed scar. ACC lesions less than 5 cm often involve only the skin and almost always heal over a period of months; larger lesions are more likely to involve the skull and possibly the dura, and are at greater risk for complications, which can include infection, hemorrhage, or thrombosis, and can result in death. The limb defects range from mild (unilateral or bilateral short distal phalanges) to severe (complete absence of all toes or fingers, feet or hands, or more, often resembling an amputation). The lower extremities are almost always more severely affected than the upper extremities. Additional major features frequently include cardiovascular malformations/dysfunction (23%), brain anomalies, and less frequently renal, liver, and eye anomalies.|GeneReviews|N|
C0265269|Lacrimo-auriculo-dento-digital (LADD) syndrome is a genetic disorder that mainly affects the eyes, ears, mouth, and hands. LADD syndrome is characterized by defects in the tear-producing lacrimal system (lacrimo-), ear problems (auriculo-), dental abnormalities (dento-), and deformities of the fingers (digital).\n\nThe lacrimal system consists of structures in the eye that produce and secrete tears. Lacrimal system malformations that can occur with LADD syndrome include an underdeveloped or absent opening to the tear duct at the edge of the eyelid (lacrimal puncta) and blockage of the channel (nasolacrimal duct) that connects the inside corner of the eye where tears gather (tear sac) to the nasal cavity. These malformations of the lacrimal system can lead to chronic tearing (epiphora), inflammation of the tear sac (dacryocystitis), inflammation of the front surface of the eye (keratoconjunctivitis), or an inability to produce tears.\n\nEars that are low-set and described as cup-shaped, often accompanied by hearing loss, are a common feature of LADD syndrome. The hearing loss may be mild to severe and can be caused by changes in the inner ear (sensorineural deafness), changes in the middle ear (conductive hearing loss), or both (mixed hearing loss).\n\nPeople with LADD syndrome may have underdeveloped or absent salivary glands, which impairs saliva production. A decrease in saliva leads to dry mouth (xerostomia) and a greater susceptibility to cavities. Individuals with LADD syndrome often have small, underdeveloped teeth with thin enamel and peg-shaped front teeth (incisors).\n\nHand deformities are also a frequent feature of LADD syndrome. Affected individuals may have abnormally small or missing thumbs. Alternatively, the thumb might be duplicated, fused with the index finger (syndactyly), abnormally placed, or have three bones instead of the normal two and resemble a finger. Abnormalities of the fingers include syndactyly of the second and third fingers, extra or missing fingers, and curved pinky fingers (fifth finger clinodactyly). Sometimes, the forearm is also affected. It can be shorter than normal with abnormal wrist and elbow joint development that limits movement.\n\nPeople with LADD syndrome may also experience other signs and symptoms. They can have kidney problems that include hardening of the kidneys (nephrosclerosis) and urine accumulation in the kidneys (hydronephrosis), which can impair kidney function. Recurrent urinary tract infections and abnormalities of the genitourinary system can also occur. Some people with LADD syndrome have an opening in the roof of the mouth (cleft palate) with or without a split in the upper lip (cleft lip). The signs and symptoms of this condition vary widely, even among affected family members.|MedlinePlus Genetics|N|
C0265273|The term achondrogenesis has been used to characterize the most severe forms of chondrodysplasia in humans, invariably lethal before or shortly after birth. Achondrogenesis type I is a severe chondrodystrophy characterized radiographically by deficient ossification in the lumbar vertebrae and absent ossification in the sacral, pubic and ischial bones and clinically by stillbirth or early death (Maroteaux and Lamy, 1968; Langer et al., 1969). In addition to severe micromelia, there is a disproportionately large cranium due to marked edema of soft tissues.
Classification of Achondrogenesis
Achondrogenesis was traditionally divided into 2 types: type I (Parenti-Fraccaro) and type II (Langer-Saldino). Borochowitz et al. (1988) suggested that achondrogenesis type I of Parenti-Fraccaro should be classified into 2 distinct disorders: type IA, corresponding to the cases originally published by Houston et al. (1972) and Harris et al. (1972), and type IB (600972), corresponding to the case originally published by Fraccaro (1952). Analysis of the case reported by Parenti (1936) by Borochowitz et al. (1988) suggested the diagnosis of achondrogenesis type II, i.e., the Langer-Saldino type (200610). Type IA would be classified as lethal achondrogenesis, Houston-Harris type; type IB, lethal achondrogenesis, Fraccaro type; and type II, lethal achondrogenesis-hypochondrogenesis, Langer-Saldino type. Superti-Furga (1996) suggested that hypochondrogenesis should be considered separately from achondrogenesis type II because the phenotype can be much milder.
Genetic Heterogeneity of Achondrogenesis
Achondrogenesis type IB (ACG1B; 600972) is caused by mutation in the DTDST gene (606718), and achondrogenesis type II (ACG2; 200610) is caused by mutation in the COL2A1 gene (120140).|OMIM|N|
C0265274|Clinical features of achondrogenesis type 1B (ACG1B) include extremely short limbs with short fingers and toes, hypoplasia of the thorax, protuberant abdomen, and hydropic fetal appearance caused by the abundance of soft tissue relative to the short skeleton. The face is flat, the neck is short, and the soft tissue of the neck may be thickened. Death occurs prenatally or shortly after birth.|GeneReviews|N|
C0265275|Asphyxiating thoracic dystrophy, also known as Jeune syndrome, is an inherited disorder of bone growth characterized by a narrow chest, short ribs, shortened bones in the arms and legs, short stature, and extra fingers and toes (polydactyly). Additional skeletal abnormalities can include unusually shaped collarbones (clavicles) and pelvic bones, and and cone-shaped ends of the long bones in the arms and legs. Many infants with this condition are born with an extremely narrow, bell-shaped chest that can restrict the growth and expansion of the lungs. Life-threatening problems with breathing result, and people with asphyxiating thoracic dystrophy may live only into infancy or early childhood. However, in people who survive beyond the first few years, the narrow chest and related breathing problems can improve with age.\n\nSome people with asphyxiating thoracic dystrophy are born with less severe skeletal abnormalities and have only mild breathing difficulties, such as rapid breathing or shortness of breath. These individuals may live into adolescence or adulthood. After infancy, people with this condition may develop life-threatening kidney (renal) abnormalities that cause the kidneys to malfunction or fail. Heart defects and a narrowing of the airway (subglottic stenosis) are also possible. Other, less common features of asphyxiating thoracic dystrophy include liver disease, fluid-filled sacs (cysts) in the pancreas, dental abnormalities, and an eye disease called retinal dystrophy that can lead to vision loss.|MedlinePlus Genetics|N|
C0265279|Kniest dysplasia is characterized by skeletal and craniofacial anomalies. Skeletal anomalies include disproportionate dwarfism, a short trunk and small pelvis, kyphoscoliosis, short limbs, and prominent joints and premature osteoarthritis that restrict movement. Craniofacial manifestations include midface hypoplasia, cleft palate, early-onset myopia, retinal detachment, and hearing loss. The phenotype is severe in some patients and mild in others. There are distinct radiographic changes including coronal clefts of vertebrae and dumbbell-shaped femora. The chondrooseous morphology is pathognomonic with perilacunar 'foaminess' and sparse, aggregated collagen fibrils resulting in an interterritorial matrix with a 'Swiss-cheese' appearance (summary by Wilkin et al., 1999).|OMIM|N|
C0265280|The autosomal dominant TRPV4 disorders (previously considered to be clinically distinct phenotypes before their molecular basis was discovered) are now grouped into neuromuscular disorders and skeletal dysplasias; however, the overlap within each group is considerable. Affected individuals typically have either neuromuscular or skeletal manifestations alone, and in only rare instances an overlap syndrome has been reported. The three autosomal dominant neuromuscular disorders (mildest to most severe) are: Charcot-Marie-Tooth disease type 2C. Scapuloperoneal spinal muscular atrophy. Congenital distal spinal muscular atrophy. The autosomal dominant neuromuscular disorders are characterized by a congenital-onset, static, or later-onset progressive peripheral neuropathy with variable combinations of laryngeal dysfunction (i.e., vocal fold paresis), respiratory dysfunction, and joint contractures. The six autosomal dominant skeletal dysplasias (mildest to most severe) are: Familial digital arthropathy-brachydactyly. Autosomal dominant brachyolmia. Spondylometaphyseal dysplasia, Kozlowski type. Spondyloepiphyseal dysplasia, Maroteaux type. Parastremmatic dysplasia. Metatropic dysplasia. The skeletal dysplasia is characterized by brachydactyly (in all 6); the five that are more severe have short stature that varies from mild to severe with progressive spinal deformity and involvement of the long bones and pelvis. In the mildest of the autosomal dominant TRPV4 disorders life span is normal; in the most severe it is shortened. Bilateral progressive sensorineural hearing loss (SNHL) can occur with both autosomal dominant neuromuscular disorders and skeletal dysplasias.|GeneReviews|N|
C0265281|The autosomal dominant TRPV4 disorders (previously considered to be clinically distinct phenotypes before their molecular basis was discovered) are now grouped into neuromuscular disorders and skeletal dysplasias; however, the overlap within each group is considerable. Affected individuals typically have either neuromuscular or skeletal manifestations alone, and in only rare instances an overlap syndrome has been reported. The three autosomal dominant neuromuscular disorders (mildest to most severe) are: Charcot-Marie-Tooth disease type 2C. Scapuloperoneal spinal muscular atrophy. Congenital distal spinal muscular atrophy. The autosomal dominant neuromuscular disorders are characterized by a congenital-onset, static, or later-onset progressive peripheral neuropathy with variable combinations of laryngeal dysfunction (i.e., vocal fold paresis), respiratory dysfunction, and joint contractures. The six autosomal dominant skeletal dysplasias (mildest to most severe) are: Familial digital arthropathy-brachydactyly. Autosomal dominant brachyolmia. Spondylometaphyseal dysplasia, Kozlowski type. Spondyloepiphyseal dysplasia, Maroteaux type. Parastremmatic dysplasia. Metatropic dysplasia. The skeletal dysplasia is characterized by brachydactyly (in all 6); the five that are more severe have short stature that varies from mild to severe with progressive spinal deformity and involvement of the long bones and pelvis. In the mildest of the autosomal dominant TRPV4 disorders life span is normal; in the most severe it is shortened. Bilateral progressive sensorineural hearing loss (SNHL) can occur with both autosomal dominant neuromuscular disorders and skeletal dysplasias.|GeneReviews|N|
C0265282|Fibrochondrogenesis is a rare neonatally lethal rhizomelic chondrodysplasia. The face is distinctive with characteristics of protuberant eyes, flat midface, flat small nose with anteverted nares and a small mouth with long upper lip. Cleft palate, micrognathia and bifid tongue can occur. The limbs show marked shortness of all segments with relatively normal hands and feet. No internal anomalies other than omphalocele have been reported. Transmission is probably autosomal recessive. Recurrence in a consanguineous family (affecting both sexes) and concordance of affected male twins has been reported.|SNOMEDCT_US|N|
C0265283|The FLNB disorders include a spectrum of phenotypes ranging from mild to severe. At the mild end are spondylocarpotarsal synostosis (SCT) syndrome and Larsen syndrome; at the severe end are the phenotypic continuum of atelosteogenesis types I (AOI) and III (AOIII) and Piepkorn osteochondrodysplasia (POCD). SCT syndrome is characterized by postnatal disproportionate short stature, scoliosis and lordosis, clubfeet, hearing loss, dental enamel hypoplasia, carpal and tarsal synostosis, and vertebral fusions. Larsen syndrome is characterized by congenital dislocations of the hip, knee, and elbow; clubfeet (equinovarus or equinovalgus foot deformities); scoliosis and cervical kyphosis, which can be associated with a cervical myelopathy; short, broad, spatulate distal phalanges; distinctive craniofacies (prominent forehead, depressed nasal bridge, malar flattening, and widely spaced eyes); vertebral anomalies; and supernumerary carpal and tarsal bone ossification centers. Individuals with SCT syndrome and Larsen syndrome can have midline cleft palate and hearing loss. AOI and AOIII are characterized by severe short-limbed dwarfism; dislocated hips, knees, and elbows; and clubfeet. AOI is lethal in the perinatal period. In individuals with AOIII, survival beyond the neonatal period is possible with intensive and invasive respiratory support. Piepkorn osteochondrodysplasia (POCD) is a perinatal-lethal micromelic dwarfism characterized by flipper-like limbs (polysyndactyly with complete syndactyly of all fingers and toes, hypoplastic or absent first digits, and duplicated intermediate and distal phalanges), macrobrachycephaly, prominant forehead, hypertelorism, and exophthalmos. Occasional features include cleft palate, omphalocele, and cardiac and genitourinary anomalies. The radiographic features at mid-gestation are characteristic.|GeneReviews|N|
C0265286|Dyggve-Melchior-Clausen disease (DMC) is an autosomal recessive disorder characterized by progressive spondyloepimetaphyseal dysplasia and impaired intellectual development. Short-trunk dwarfism and microcephaly are present, and specific radiologic appearances most likely reflect abnormalities of the growth plates, including platyspondyly with notched end plates, metaphyseal irregularities, laterally displaced capital femoral epiphyses, and small iliac wings with lacy iliac crests (summary by El Ghouzzi et al., 2003).|OMIM|N|
C0265287|Acromicric dysplasia (ACMICD) is an autosomal dominant disorder characterized by severe short stature, short hands and feet, joint limitations, and skin thickening. Radiologic features include delayed bone age, cone-shaped epiphyses, shortened long tubular bones, and ovoid vertebral bodies. Affected individuals have distinct facial features, including round face, well-defined eyebrows, long eyelashes, bulbous nose with anteverted nostrils, long and prominent philtrum, and thick lips with a small mouth. Other characteristic features include hoarse voice and pseudomuscular build, and there are distinct skeletal features as well, including an internal notch of the femoral head, internal notch of the second metacarpal, and external notch of the fifth metacarpal (summary by Le Goff et al., 2011).
Allelic disorders with overlapping skeletal and joint features include geleophysic dysplasia-2 (GPHYSD2; 614185) and the autosomal dominant form of Weill-Marchesani syndrome (608328).|OMIM|N|
C0265289|Schmid metaphyseal chondrodysplasia (SMCD) is characterized by progressive short stature that develops by age two years. The clinical and radiographic features are usually not present at birth, but manifest in early childhood with short limbs, genu varum, and waddling gait. Facial features and head size are normal. Radiographs show metaphyseal irregularities of the long bones (e.g., splaying, flaring, cupping); shortening of the tubular bones; widened growth plates; coxa vara; and anterior cupping, sclerosis, and splaying of the ribs. Mild hand involvement often includes shortening of the tubular bones and metaphyseal cupping of the metacarpals and proximal phalanges. Platyspondyly and vertebral end-plate irregularities are less common. Hand and vertebral involvement can resolve with age. Early motor milestones may be delayed due to orthopedic complications. Intelligence is normal. Joint pain in the knees and hips is common and may limit physical activity. Adult height is typically more than 3.5 SD below the mean, although a wide spectrum that overlaps normal height has been reported. There are no extraskeletal manifestations.|GeneReviews|N|
C0265290|An abnormality of skeletal development characterized by a disturbance of the metaphysis and its histological structure with relatively normal epiphyses and vertebrae.|HPO|N|
C0265291|Kenny-Caffey syndrome (KCS) is characterized by severe proportionate short stature, cortical thickening and medullary stenosis of the tubular bones, delayed closure of the anterior fontanel, eye abnormalities, and transient hypocalcemia. Patients with autosomal dominant KCS type 2 (KCS2) have normal intelligence (Kenny and Linarelli, 1966; Caffey, 1967; summary by Isojima et al., 2014).
See KCS1 (244460) for a discussion of an autosomal recessive form of Kenny-Caffey syndrome.|OMIM|N|
C0265292|Craniometaphyseal dysplasia (CMD) is a very rare genetic bone disease characterized by progressive diffuse hyperostosis of cranial bones causing facial dysmorphism and functional repercussions, and metaphyseal widening of long bones.|ORDO|N|
C0265293|Frontometaphyseal dysplasia-1 (FMD1) is 1 of 4 otopalatodigital syndromes caused by mutations in the FLNA gene. The disorders, which include otopalatodigital syndrome-1 (OPD1; 311300), otopalatodigital syndrome-2 (OPD2; 304120), and Melnick-Needles syndrome (MNS; 309350), constitute a phenotypic spectrum. At the mild end of the spectrum, males with OPD1 have cleft palate and mild skeletal anomalies with conductive deafness caused by ossicular anomalies. FMD1 is characterized by a generalized skeletal dysplasia, deafness, and urogenital defects. Males with OPD2 have disabling skeletal anomalies in addition to variable malformations in the hindbrain, heart, intestines, and kidneys that frequently lead to perinatal death. The most severe phenotype, MNS, is characterized by a skeletal dysplasia in the heterozygote. Affected males exhibit severe malformations similar to those observed in individuals with OPD2, resulting in prenatal lethality or death in the first few months of life (review by Robertson, 2005). Verloes et al. (2000) suggested that these disorders constitute a single entity, which they termed 'frontootopalatodigital osteodysplasia.'
Genetic Heterogeneity of Frontometaphyseal Dysplasia
Frontometaphyseal dysplasia-2 (FMD2; 617137) is caused by mutation in the MAP3K7 gene (602614) on chromosome 6q15.|OMIM|N|
C0265294|Pyle disease is characterized by long bones with wide and expanded trabecular metaphyses, thin cortical bone, and bone fragility. Fractures are common in Pyle disease, and fracture lines usually go through the abnormally wide metaphyses, revealing their fragility (summary by Kiper et al., 2016).|OMIM|N|
C0265295|The Murk Jansen type of metaphyseal chondrodysplasia is characterized by severe short stature, short bowed limbs, clinodactyly, prominent upper face, and small mandible. Hypercalcemia and hypophosphatemia occur despite the lack of parathyroid abnormalities (summary by Cohen, 2002).|OMIM|N|
C0265301|Sclerosteosis is a severe sclerosing bone dysplasia characterized by progressive skeletal overgrowth. Syndactyly is a variable manifestation. The disorder is rare and the majority of affected individuals have been reported in the Afrikaner population of South Africa (summary by Brunkow et al., 2001).
Genetic Heterogeneity of Sclerosteosis
Sclerosteosis-2 (SOST2; 614305) is caused by mutation in the LRP4 gene (604270) on chromosome 11p11.|OMIM|N|
C0265303|Goodman syndrome is an extremely rare genetic disorder with characteristics of marked malformations of the head and face (essentially acrocephaly), abnormalities of the hands and feet (polydactyly, syndactyly, clinodactyly, camptodactyly, ulnar deviation), and congenital heart disease. There have been no further descriptions in the literature since 1979. Goodman syndrome could be a variant of Carpenter syndrome.|SNOMEDCT_US|N|
C0265306|Typical Greig cephalopolysyndactyly syndrome (GCPS) is characterized by macrocephaly, widely spaced eyes associated with increased interpupillary distance, preaxial polydactyly with or without postaxial polydactyly, and cutaneous syndactyly. Developmental delay, intellectual disability, or seizures appear to be uncommon manifestations (~<10%) of GCPS and may be more common in individuals with large (>300-kb) deletions that encompass GLI3. Approximately 20% of individuals with GCPS have hypoplasia or agenesis of the corpus callosum.|GeneReviews|N|
C0265308|Baller-Gerold syndrome (BGS) can be suspected at birth in an infant with craniosynostosis and upper limb abnormality. The coronal suture is most commonly affected; the metopic, lambdoid, and sagittal sutures may also be involved alone or in combination. Upper limb abnormality can include a combination of thumb hypo- or aplasia and radial hypo- or aplasia and may be asymmetric. Malformation or absence of carpal or metacarpal bones has also been described. Skin lesions may appear anytime within the first few years after birth, typically beginning with erythema of the face and extremities and evolving into poikiloderma. Slow growth is apparent in infancy with eventual height and length typically at 4 SD below the mean.|GeneReviews|N|
C0265309|The phenotypic spectrum of SHOX deficiency disorders, caused by haploinsufficiency of the short stature homeobox-containing gene (SHOX), ranges from Leri-Weill dyschondrosteosis (LWD) at the severe end of the spectrum to nonspecific short stature at the mild end of the spectrum. In adults with SHOX deficiency, the proportion of LWD versus short stature without features of LWD is not well defined. In LWD the classic clinical triad is short stature, mesomelia, and Madelung deformity. Mesomelia, in which the middle portion of a limb is shortened in relation to the proximal portion, can be evident first in school-aged children and increases with age in frequency and severity. Madelung deformity (abnormal alignment of the radius, ulna, and carpal bones at the wrist) typically develops in mid-to-late childhood and is more common and severe in females. The phenotype of short stature caused by SHOX deficiency in the absence of mesomelia and Madelung deformity (called SHOX-deficient short stature in this GeneReview) is highly variable, even within the same family.|GeneReviews|N|
C0265313|Weill-Marchesani syndrome (WMS) is a connective tissue disorder characterized by abnormalities of the lens of the eye, short stature, brachydactyly, joint stiffness, and cardiovascular defects. The ocular problems, typically recognized in childhood, include microspherophakia (small spherical lens), myopia secondary to the abnormal shape of the lens, ectopia lentis (abnormal position of the lens), and glaucoma, which can lead to blindness. Height of adult males is 142-169 cm; height of adult females is 130-157 cm. Autosomal recessive WMS cannot be distinguished from autosomal dominant WMS by clinical findings alone.|GeneReviews|N|
C0265316|A hereditary syndrome affecting the central nervous system that is associated with lesions of the skin and retina. Representative examples include neurofibromatosis, tuberous sclerosis, von Hippel-Lindau syndrome, and Sturge-Weber syndrome.|NCI|N|
C0265319|The presence of a sebaceous adenoma with origin in the sebum secreting cells of the skin.|HPO|N|
C0265321|Wyburn-Mason syndrome or Bonnet-Dechaume-Blanc syndrome is characterized by the association of arteriovenous malformations of the maxilla, retina, optic nerve, thalamus, hypothalamus and cerebral cortex.|ORDO|N|
C0265323|A non-neoplastic hamartomatous polyp that arises from the small intestine. It is characterized by the presence of smooth muscle branching bands, and cystic mucosal changes.|NCI|N|
C0265325|An autosomal dominant hereditary neoplastic syndrome caused by mutations in the PMS2, MLH1, MSH2, or APC genes. There are two types described, type 1, characterized by the presence of glioblastoma and often associated with hereditary nonpolyposis colorectal carcinoma, and type 2, characterized by the presence of medulloblastoma and familiar adenomatous polyposis.|NCI|N|
C0265326|The PTEN hamartoma tumor syndrome (PHTS) includes Cowden syndrome (CS), Bannayan-Riley-Ruvalcaba syndrome (BRRS), PTEN-related Proteus syndrome (PS), and PTEN-related Proteus-like syndrome. CS is a multiple hamartoma syndrome with a high risk for benign and malignant tumors of the thyroid, breast, kidney, and endometrium. Affected individuals usually have macrocephaly, trichilemmomas, and papillomatous papules, and present by the late 20s. The lifetime risk of developing breast cancer is 85%, with an average age of diagnosis between 38 and 46 years. The lifetime risk for thyroid cancer (usually follicular, rarely papillary, but never medullary thyroid cancer) is approximately 35%. The lifetime risk for renal cell cancer (predominantly of papillary histology) is 34%. The risk for endometrial cancer may approach 28%. BRRS is a congenital disorder characterized by macrocephaly, intestinal hamartomatous polyposis, lipomas, and pigmented macules of the glans penis. PS is a complex, highly variable disorder involving congenital malformations and hamartomatous overgrowth of multiple tissues, as well as connective tissue nevi, epidermal nevi, and hyperostoses. Proteus-like syndrome is undefined but refers to individuals with significant clinical features of PS who do not meet the diagnostic criteria for PS.|GeneReviews|N|
C0265328|A rare genetic epilepsy syndrome with characteristics of congenital alopecia, early-onset epilepsy, intellectual disability and speech delay. Large stature, delayed bone development and abnormal electroencephalogram have also been associated.|SNOMEDCT_US|N|
C0265331|Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings.
Hypohidrotic, or anhidrotic, ectodermal dysplasia (HED/EDA) is characterized by a triad of signs comprising sparse hair (hypotrichosis), abnormal or missing teeth (anodontia or hypodontia), and inability to sweat (anhidrosis or hypohidrosis). Typical clinical manifestations also include dryness of the skin, eyes, airways, and mucous membranes presumably due to the defective development of several exocrine glands. Hypohidrotic ectodermal dysplasia can be associated with dysmorphic features (forehead bumps, rings under the eyes, everted nose, and prominent lips) and occasionally with absent nipples (summary by Cluzeau et al., 2011).|OMIM|N|
C0265333|Trichodentoosseous syndrome (TDO) is an autosomal dominant disorder with complete penetrance characterized by abnormalities involving hair, teeth, and bone (summary by Nguyen et al., 2013).|OMIM|N|
C0265334|Pachyonychia congenita (PC) is characterized by hypertrophic nail dystrophy, painful palmoplantar keratoderma and blistering, oral leukokeratosis, pilosebaceous cysts (including steatocystoma and vellus hair cysts), palmoplantar hyperhydrosis, and follicular keratoses on the trunk and extremities.|GeneReviews|N|
C0265336|Keratitis-ichthyosis-deafness (KID) syndrome is a rare ectodermal dysplasia characterized by sensorineural hearing loss, photophobia and corneal vascularization, hyperkeratosis of the palms and soles, erythrokeratoderma, follicular hyperkeratosis, and recurrent bacterial and fungal infections. A subset of patients with KID may develop multiple cystic pilar tumors, which are prone to malignant transformation and metastasis (Nyquist et al., 2007).
Vohwinkel syndrome (124500) is an allelic disorder involving congenital deafness with keratopachydermia and constrictions of fingers and toes. Another similar disorder caused by mutation in GJB2 is palmoplantar keratoderma with deafness (148350).
Genetic Heterogeneity of Keratitis-Ichthyosis-Deafness Syndrome
An autosomal recessive form of KID syndrome (KIDAR; 242150) is caused by mutation in the AP1B1 gene (600157) on chromosome 22q12.|OMIM|N|
C0265338|Coffin-Siris syndrome (CSS) is classically characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth and additional digits, developmental or cognitive delay of varying degree, distinctive facial features, hypotonia, hirsutism/hypertrichosis, and sparse scalp hair. Congenital anomalies can include malformations of the cardiac, gastrointestinal, genitourinary, and/or central nervous systems. Other findings commonly include feeding difficulties, slow growth, ophthalmologic abnormalities, and hearing impairment.|GeneReviews|N|
C0265339|Borjeson-Forssman-Lehmann syndrome (BFLS) is an uncommon X-linked intellectual developmental disorder that evolves with age. Clinical manifestations in males are quite variable, with the most consistent features being initial hypotonia, mild to moderate impaired intellectual development, large fleshy ears, underdeveloped genitalia, gynecomastia, truncal obesity, tapering fingers, and shortening of the fourth and fifth toes. Heterozygous females may have a milder similar clinical phenotype, which can include hypothyroidism; however, many carrier females appear unaffected (summary by Crawford et al., 2006).|OMIM|N|
C0265341|Axenfeld-Rieger syndrome is primarily an eye disorder, although it can also affect other parts of the body. This condition is characterized by abnormalities of the front part of the eye, an area known as the anterior segment. For example, the colored part of the eye (the iris), may be thin or poorly developed. The iris normally has a single central hole, called the pupil, through which light enters the eye. People with Axenfeld-Rieger syndrome often have a pupil that is off-center (corectopia) or extra holes in the iris that can look like multiple pupils (polycoria). This condition can also cause abnormalities of the cornea, which is the clear front covering of the eye.\n\nAbout half of affected individuals develop glaucoma, a serious condition that increases pressure inside the eye. When glaucoma occurs with Axenfeld-Rieger syndrome, it most often develops in late childhood or adolescence, although it can occur as early as infancy. Glaucoma can cause vision loss or blindness.\n\nThe signs and symptoms of Axenfeld-Rieger syndrome can also affect other parts of the body. Many affected individuals have distinctive facial features such as widely spaced eyes (hypertelorism); a flattened mid-face with a broad, flat nasal bridge; and a prominent forehead. The condition is also associated with dental abnormalities including unusually small teeth (microdontia) or fewer than normal teeth (oligodontia). Some people with Axenfeld-Rieger syndrome have extra folds of skin around their belly button (redundant periumbilical skin). Other, less common features can include heart defects, the opening of the urethra on the underside of the penis (hypospadias), narrowing of the anus (anal stenosis), and abnormalities of the pituitary gland that can result in slow growth.\n\nResearchers have described at least three types of Axenfeld-Rieger syndrome. The types, which are numbered 1 through 3, are distinguished by their genetic cause.|MedlinePlus Genetics|N|
C0265342|Cerebrocostomandibular syndrome (CCMS) is characterized mainly by severe micrognathia, rib defects, and mental retardation. A spectrum of rib gap defects have been reported ranging from a few dorsal rib segments to complete absence of ossification. In about half of the 65 reported cases to date, there is cerebral involvement including mental retardation, microcephaly, and histologic anomalies. Both autosomal dominant and autosomal recessive forms of the disorder have been described (Zeevaert et al., 2009).
See CDG2G (611209) for a cerebrocostomandibular-like syndrome.|OMIM|N|
C0265343|Spondylocostal dysostosis (SCDO), defined radiographically as multiple segmentation defects of the vertebrae (M-SDV) in combination with abnormalities of the ribs, is characterized clinically by: a short trunk in proportion to height; short neck; non-progressive mild scoliosis in most affected individuals, and occasionally, more significant scoliosis. Respiratory function in neonates may be compromised by reduced size of the thorax. By age two years lung growth may improve sufficiently to support relatively normal growth and development; however, even then life-threatening complications can occur, especially pulmonary hypertension in children with severely restricted lung capacity from birth. Males with SCDO appear to be at increased risk for inguinal hernia.|GeneReviews|N|
C0265344|INSR-related severe syndromic insulin resistance comprises a phenotypic spectrum that is a continuum from the severe phenotype Donohue syndrome (DS) (also known as leprechaunism) to the milder phenotype Rabson-Mendenhall syndrome (RMS). DS at the severe end of the spectrum is characterized by severe insulin resistance (hyperinsulinemia with associated fasting hypoglycemia and postprandial hyperglycemia), severe prenatal growth restriction and postnatal growth failure, hypotonia and developmental delay, characteristic facies, and organomegaly involving heart, kidneys, liver, spleen, and ovaries. Death usually occurs before age one year. RMS at the milder end of the spectrum is characterized by severe insulin resistance that, although not as severe as that of DS, is nonetheless accompanied by fluctuations in blood glucose levels, diabetic ketoacidosis, and – in the second decade – microvascular complications. Findings can range from severe growth delay and intellectual disability to normal growth and development. Facial features can be milder than those of DS. Complications of longstanding hyperglycemia are the most common cause of death. While death usually occurs in the second decade, some affected individuals live longer.|GeneReviews|N|
C0265345|Lymphedema-distichiasis syndrome (referred to as LDS in this GeneReview) is characterized by lower-limb lymphedema, and distichiasis (aberrant eyelashes ranging from a full set of extra eyelashes to a single hair). Lymphedema typically appears in late childhood or puberty, is confined to the lower limbs with or without involvement of the external genitalia, and is often asymmetric; severity varies within families. Males develop edema at an earlier age and have more problems with cellulitis than females. Distichiasis, which may be present at birth, is observed in 94% of affected individuals. About 75% of affected individuals have ocular findings including corneal irritation, recurrent conjunctivitis, and photophobia; other common findings include varicose veins and ptosis.|GeneReviews|N|
C0265354|CHD7 disorder encompasses the entire phenotypic spectrum of heterozygous CHD7 pathogenic variants that includes CHARGE syndrome as well as subsets of features that comprise the CHARGE syndrome phenotype. The mnemonic CHARGE syndrome, introduced in the premolecular era, stands for coloboma, heart defect, choanal atresia, retarded growth and development, genital hypoplasia, ear anomalies (including deafness). Following the identification of the genetic cause of CHD7 disorder, the phenotypic spectrum expanded to include cranial nerve anomalies, vestibular defects, cleft lip and/or palate, hypothyroidism, tracheoesophageal anomalies, brain anomalies, seizures, and renal anomalies. Life expectancy highly depends on the severity of manifestations; mortality can be high in the first few years when severe birth defects (particularly complex heart defects) are present and often complicated by airway and feeding issues. In childhood, adolescence, and adulthood, decreased life expectancy is likely related to a combination of residual heart defects, infections, aspiration or choking, respiratory issues including obstructive and central apnea, and possibly seizures. Despite these complications, the life expectancy for many individuals can be normal.|GeneReviews|N|
C0265372|A drug-related embryofetopathy that can occur when an embryo/fetus is exposed to the anticonvulsant drug phenytoin, characterized by distinct craniofacial anomalies (hypertelorism and epicanthal folds, short nose and deep nasal bridge, malformed and low set ears, short neck) as well as hypoplastic distal phalanges and underdevelopment of nails of fingers and toes, prenatal and postnatal growth retardation, and neurological impairment (at a 2-3 times higher risk than that of the general population) including cognitive deficits and motor developmental delay. Less commonly, microcephaly, ocular defects, oral clefts, umbilical and inguinal hernias, hypospadias and cardiac anomalies have also been reported.|ORDO|N|
C0265373|A drug-related embryofetopathy that can occur when an embryo/fetus is exposed to trimethadione and that is characterized by pre- and post-natal growth retardation, intellectual deficit, developmental and speech delay, craniofacial anomalies (with some similarities to those seen in fetal valproate syndrome), and less commonly, cleft palate, malformations of the heart, urogenital system and limbs. Trimethadione is an antiepileptic drug that has been removed from the market in Europe and is no longer used much in other countries due to teratogenicity and potential side effects.|ORDO|N|
C0265374|Vitamin K antagonist embryofetopathy is characterized by a group of symptoms that may be observed in a fetus or newborn when the mother has taken oral vitamin K antagonists, such as warfarin during pregnancy. Vitamin K antagonists are anticoagulant drugs that provide efficient thromboprophylaxis and that can cross the placenta. 5-12 % of infants exposed to warfarin between 6-9 weeks gestation present nasal hypoplasia and skeletal abnormalities, including short limbs and digits (brachydactyly), and stippled epiphyses. Warfarin fetopathy with central nervous system abnormalities (hydrocephalus, intellectual disability, spasticity, and hypotonia) or ocular abnormalities (microphthalmia, cataract, optic atrophy), fetal loss, and stillbirth, occurs in infants exposed at later gestations. Additional features that have been reported after in utero warfarin exposure include facial dysmorphism (cleft lip and/or palate, malformed ears), choanal atresia or stenosis, aorta coarctation, situs inversus totalis, bilobed lungs, and ventral midline dysplasia.|ORDO|N|
C0265376|Foetal methylmercury syndrome is characterized by a group of symptoms that may be observed in a fetus or newborn when the mother was exposed during pregnancy to excessive amounts of methylmercury.|MONDO|N|
C0265384|A monogenic disease that is has material basis in a mutation in a single gene on one of the non-sex chromosomes.|MONDO|N|
C0265385|Autosomal dominant form of disease.|MONDO|N|
C0265388|Autosomal recessive form of disease.|MONDO|N|
C0265393|Deletion of the long arm of chromosome 1 characterized by multiple anomalies and neurological signs, including psychomotor and developmental delay, hypotonia, seizures, characteristic facies, congenital heart diseases, osseous defects, and genital anomalies.|JABL|N|
C0265395|An autosomal anomaly with characteristics of variable clinical features, most commonly including significant intrauterine and postnatal growth failure, developmental delay, intellectual disability, microcephaly and dysmorphic facial features. Some less frequent clinical features are dysgenesis of corpus callosum, atrial septal defect, rocker bottom feet and clinodactyly.|SNOMEDCT_US|N|
C0265404|Chromosome 4q deletion is a chromosome abnormality that affects many different parts of the body. People with this condition are missing genetic material located on the long arm (q) of chromosome 4 in each cell. The severity of the condition and the associated signs and symptoms vary based on the size and location of the deletion and which genes are involved. Common features shared by many people with this deletion includedistinctive craniofacial features, skeletal abnormalities, heart defects, intellectual disability, developmental delay, and short stature. Most cases are not inherited, although affectedpeople can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.|MONDO|N|
C0265405|Trisomy 4p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 4, with a highly variable phenotype, typically characterized by pre- and postnatal growth delay, psychomotor developmental delay and craniofacial dysmorphism (microcephaly, prominent glabelle, hypertelorism, enlarged ears with abnormal helix and antihelix, bulbous nose with flat or depressed nasal bridge, long philtrum, retrognathia with pointed chin). Additional features include skeletal (rocker bottom feet, arachnodactyly, camptodactyly) and renal malformations, cardiac defects, ocular abnormalities and abnormal genitalia in males.|ORPHANET|N|
C0265407|An autosomal anomaly with characteristics of variable clinical features, most commonly including significant intrauterine and postnatal growth retardation, developmental delay, intellectual disability, microcephaly, and dysmorphic facial features. Some less frequent features are cleft lip and/or cleft palate, congenital cardiovascular, gastrointestinal and genitourinary system anomalies.|SNOMEDCT_US|N|
C0265414|Deletion of the short arm of chromosome 7 with a phenotype consisting mainly of craniofacial abnormalities (flattened occiput, prominent forehead, craniosynostosis, microcephaly, malformed ears, eye and palpebral anomalies), congenital heart disease, genital malformations, hand abnormalities, and mild to severe mental retardation. The phenotype and severity of symptoms vary in relation to the length of deletion.|JABL|N|
C0265415|Deletion of the long arm of chromosome 7 with delayed mental and physical development and multiple anomalies involving the craniofacial structures, eyes, extremities (mainly split hand/split foot abnormality), and other parts.|JABL|N|
C0265418|Chromosomal disorder in which chromosome 8 is affected.|MONDO|N|
C0265425|A rare chromosomal anomaly syndrome resulting from a partial deletion of the short arm of chromosome 9. The syndrome has a highly variable phenotype with typical characteristics of intellectual disability, craniofacial dysmorphism (trigonocephaly, upslanting palpebral fissures, hypoplastic supraorbital ridges), abnormal digits (long middle phalanges with short distal phalanges), as well as frequent association with genitourinary abnormalities (cryptorchidism, hypospadias, ambiguous genitalia, 46,XY testicular dysgenesis). Congenital hypothyroidism and cardiovascular defects have been reported in some cases. Patients present an increased risk for gonadoblastoma.|SNOMEDCT_US|N|
C0265428|Trisomy 9p is a rare chromosomal anomaly syndrome, resulting from a partial or complete trisomy of the short arm of chromosome 9, with a wide phenotypic variablility, typically characterized by intellectual disability, craniofacial dysmorphism (e.g. microcephaly, large anterior fontanel, hypertelorism, strabismus, downslanting palpebral fissures, malformed, low-set, protruding ears, bulbous nose, macrostomia, down-turned corners of mouth, micrognathia), digital anomalies (brachydactyly and clinodactyly), and short stature. Less frequently patients present with cardiopathy and renal, skeletal, and central nervous system malformations.|ORDO|N|
C0265430|An autosomal anomaly with characteristics of variable clinical features, most commonly including developmental delay, some degree of intellectual disability, facial dysmorphism, microcephaly, congenital heart anomalies and variable genital, limb and skeletal anomalies.|SNOMEDCT_US|N|
C0265438|An autosomal anomaly with characteristics of variable clinical features, depending on the size and precise location of deleted chromosome segments. Most patients present with developmental delay, intellectual disability, growth retardation, microcephaly, clinodactyly and dysmorphic features. Congenital heart disease and genitourinary anomalies are reported in some cases.|SNOMEDCT_US|N|
C0265444|An autosomal anomaly with characteristics of variable clinical features, including early growth retardation and short stature, microcephaly, developmental delay, some degree of intellectual disability, facial dysmorphism and cafe-au-lait spots. In some cases, congenital heart disease and endocrine abnormalities have been reported.|SNOMEDCT_US|N|
C0265449|Pallister-Killian syndrome (PKS) is a dysmorphic condition involving most organ systems, but is also characterized by a tissue-limited mosaicism; most fibroblasts have 47 chromosomes with an extra small metacentric chromosome, whereas the karyotype of lymphocytes is normal. The extra metacentric chromosome is an isochromosome for part of the short arm of chromosome 12: i(12)(p10) (Peltomaki et al., 1987; Warburton et al., 1987).|OMIM|N|
C0265451|A rare syndrome that is characterized by the partial deletion of the long arm of chromosome 13. Signs and symptoms include low birth weight, craniofacial malformations, hands and feet malformations, and mental and psychomotor retardation.|NCI|N|
C0265456|Duplication of the long arm of chromosome 14 with delayed motor and mental development, craniofacial dysmorphism, failure to thrive, and hand and foot, cardiovascular, genitourinary, and other defects.|JABL|N|
C0265458|A rare partial duplication of the long arm of chromosome 14 with characteristics of variable clinical features, most commonly including growth retardation and low birth weight, hypotonia, developmental delay, intellectual disability, short stature, microcephaly, facial dysmorphism (frontal bossing, hypertelorism, bulbous nose, micrognathia, sparse hair and eyebrows), congenital heart defects, spasticity and hyperreflexia.|SNOMEDCT_US|N|
C0265475|An autosomal anomaly with characteristics of variable clinical features, most commonly including hypotonia, neonatal feeding and respiratory difficulties, microcephaly, global developmental delay and intellectual disability, growth hormone deficiency, hypothyroidism, hearing loss, aural atresia, dysmorphic facial features and behavioral characteristics.|SNOMEDCT_US|N|
C0265479|A rare chromosomal anomaly syndrome with a highly variable phenotype ranging from normal (in the majority of cases) to a mild, subtle phenotype. Principal characteristics are spinal abnormalities (stenosis, vertebral fusion, and kyphosis), hypotonia, lifelong constipation, sloped shoulders, skin pigmentation abnormalities (linear and whorled naevoid hypermelanosis) and significant learning disabilities despite normal intelligence. More severe phenotypes, with patients presenting psychomotor and speech delay, mild facial dysmorphism, cardiac (ventricular septal defect, dysplastic tricuspid mitral valve) and renal anomalies (horseshoe kidneys) have also been reported.|SNOMEDCT_US|N|
C0265480|Disorder resulting from duplication of all or part of the short arm of chromosome 20 with characteristics of normal growth, mild to moderate intellectual disability, speech delay, poor coordination and evocative facial features. The chromosomal anomaly may occur de novo, but most reported cases arise from a reciprocal translocation or, as described in a few cases, a parental inversion.|SNOMEDCT_US|N|
C0265481|Duplication of the long arm of chromosome 20. The phenotype usually consists of brachycephaly, epicanthus, anteverted nostrils, short neck, vertical chin dimple, and congenital heart defect or murmur. Delayed development growth, speech, motor, and social interactions in some cases.|JABL|N|
C0265482|Ring chromosome 20 syndrome is a condition that affects the normal development and function of the brain. The most common feature of this condition is recurrent seizures (epilepsy) in childhood. The seizures may occur during the day or at night during sleep. They are described as partial seizures because they affect only one area of the brain, a region called the frontal lobe. In many cases, the seizures are complex and resistant to treatment with anti-epileptic drugs. Prolonged seizure episodes known as non-convulsive status epilepticus also appear to be characteristic of ring chromosome 20 syndrome. These episodes involve confusion and behavioral changes.\n\nMost people with ring chromosome 20 syndrome also have  intellectual disabilities and behavioral difficulties. Although these problems can appear either before or after the onset of epilepsy, they tend to worsen after seizures develop. Major birth defects and differences in facial features can occur in people with ring chromosome 20 syndrome, though these are rare.|MedlinePlus Genetics|N|
C0265487|An autosomal anomaly with characteristics of variable clinical features, most commonly including growth retardation, developmental delay, intellectual disability, epilepsy, microcephaly, short stature, dysmorphic features, hypogammaglobulinaemia, thrombocytopenia and unspecific skeletal anomalies (hemivertebrae, clinodactyly, syndactyly). In rare cases, it has been described in phenotypically normal individuals.|SNOMEDCT_US|N|
C0265490|A chromosomal abnormality consisting of the presence of a third copy of chromosome 22 in somatic cells.|NCI|N|
C0265491|Duplication of the long arm of chromosome 22. Clinical characteristics vary with the karyotype and may include craniofacial, ocular, and genital abnormalities and developmental delay.|JABL|N|
C0265492|An autosomal anomaly with characteristics of variable clinical features, most commonly including global developmental delay, hypotonia, growth retardation with microcephaly, intellectual disability with severe speech delay, seizures or abnormal EEG, autistic spectrum disorder and other behavioral characteristics.|SNOMEDCT_US|N|
C0265493|Cat eye syndrome (CES) is characterized clinically by the combination of coloboma of the iris and anal atresia with fistula, downslanting palpebral fissures, preauricular tags and/or pits, frequent occurrence of heart and renal malformations, and normal or near-normal mental development. A small supernumerary chromosome (smaller than chromosome 21) is present, frequently has 2 centromeres, is bisatellited, and represents an inv dup(22)(q11).|OMIM|N|
C0265496|A sex chromosome anomaly caused by the presence of two extra X chromosomes in females (48,XXXX instead of 46,XX). This disorder is associated with delayed speech, learning difficulties, developmental delay and facial dysmorphism. Although disease severity is variable, the learning difficulties and developmental delay are generally mild to moderate. Commonly associated facial features include hypertelorism, upslanting palpebral fissures, epicanthal folds and a flat nasal bridge. Other anomalies may include dental abnormalities, hypotonia and joint laxity, radioulnar synostosis, heart defects, hip dysplasia, and ovarian dysfunction. An increased susceptibility to infections during childhood has also been reported.|SNOMEDCT_US|N|
C0265497|A rare sex chromosome abnormality in which a female child has 3 extra X chromosomes.|NCI|N|
C0265498|The 48,XXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of two extra X chromosomes in males.|ORDO|N|
C0265499|49,XXXXY syndrome is a chromosomal condition that causes intellectual disabilities, developmental delays, changes in sex characteristics and other physical features, and an inability to have biological children (infertility). Some of these signs and symptoms vary among affected individuals. \n\nPeople with 49,XXXXY syndrome have mild or moderate intellectual disabilities with learning difficulties. Speech and language development are particularly affected. Most affected individuals are better at understanding what other people say (receptive language) than producing speech (expressive language). Because many individuals with 49,XXXXY have difficulty making the mouth movements needed to speak, they are often diagnosed with a condition called childhood apraxia of speech.People with 49,XXXXY syndrome tend to be shy and friendly, but problems with speech and communication can contribute to behavioral issues, including irritability, difficulty tolerating frustration, defiant behavior, and outbursts or temper tantrums.\n\n49,XXXXY syndrome is also associated with weak muscle tone (hypotonia) and problems with coordination that delay the development of motor skills, such as sitting, standing, and walking. Some people with 49,XXXXY have involuntary tensing of the neck, which causes the head to tilt or turn (torticollis).Affected infants and children are often shorter than their peers, but some catch up in height later in childhood or adolescence.\n\nThe physical differences that are associated with 49,XXXXY syndrome include the fusion of  bones in the forearm (radioulnar synostosis), an unusually large range of joint movement (hyperextensibility), elbow abnormalities, curved pinky fingers (fifth finger clinodactyly), and flat feet (pes planus). Affected individuals have distinctive facial features that can include widely spaced eyes (ocular hypertelorism), an upward tilt to the outside corners of the eyes   (upslanting palpebral fissures), skin folds that cover the inner corner of the eyes (epicanthal folds), and a flat bridge of the nose. Dental abnormalities are also common in people with 49,XXXXY syndrome.\n\n49,XXXXY syndrome disrupts the development of typically male sex characteristics. The penis is often short and underdeveloped, and the testes may be undescended, which means they are  located inside the pelvis or abdomen instead of outside of the body. The testes are small and do not produce sperm, so all individuals with 49,XXXXY syndrome are infertile. 49,XXXXY syndrome  reduces the production of  testosterone, which is the hormone that directs male sexual development. Without treatment, the shortage of testosterone often leads to incomplete puberty. Starting in adolescence, affected individuals may have sparse body hair, and some experience breast enlargement (gynecomastia). |MedlinePlus Genetics|N|
C0265512|An osteoma that develops in the medullary cavity of the bone.|NCI|N|
C0265513|A lamellar pattern visible on radiographs and mainly localized at the metaphyses of the long tubular bones. Pathologic-anatomical studies revealed that these benign signs on x-rays are the result of a juvenile metaphyseal bone necrosis. Calcifications in the necrotic marrow lead to this lamellar or lattice-like appearance.|HPO|N|
C0265514|Buschke-Ollendorff syndrome (BOS) is an autosomal dominant connective tissue disorder manifest by multiple subcutaneous nevi or nodules. They may be either elastin-rich (elastoma) or collagen-rich (dermatofibrosis lenticularis disseminata) on histologic examination. The lesions are usually nontender and firm. Affected individuals also have osteopoikilosis (OPK), literally meaning 'spotted bones,' which are osteosclerotic foci that occur in the epiphyses and metaphyses of long bones, wrist, foot, ankle, pelvis, and scapula. Some individuals have both skin and bone manifestations, whereas others may lack skin or bone manifestations. Some individuals may also have melorheostosis (155950), which is characterized by 'flowing' hyperostosis of the cortex of tubular bones. Most reported cases of BOS and OPK are benign, and the bone lesions are found incidentally, although some patients may have joint pain (reviews by Hellemans et al., 2004 and Zhang et al., 2009).|OMIM|N|
C0265534|Scaphocephaly is a subtype of dolichocephaly where the anterior and posterior aspects of the cranial vault are pointed (boat-shaped). Scaphocephaly is caused by a precocious fusion of sagittal suture without other associated synostosis.|HPO|N|
C0265535|Wedge-shaped, or triangular head, with the apex of the triangle at the midline of the forehead and the base of the triangle at the occiput.|HPO|N|
C0265537|A congenital abnormality characterized by round or oval shaped defects in the membranous skull vault resulting in non-ossified, honey comb-like areas in the calvaria.|NCI|N|
C0265541|A congenital abnormality characterized by the failure of the bones of the skull to close.|NCI|N|
C0265546|Polymelia is a congenital anomaly, which is defined as the presence of accessory limbs attached to various body regions and could be classified as cephalomelia (extra-limb attached to the head), notomelia (extra-limb attached to the back bone), thoracomelia (extra-limb attached to the thorax), and pyromelia (extra-limb attached to the pelvis).|HPO|N|
C0265549|Partial absence of a free limb (excluding girdle). It can refer to the proximal, middle or distal segment of the upper or lower limb. The deficiency may be transverse or longitudinal. Thus, meromelia is a lack of a part, but not all, of one or more limbs with the presence of a hand or foot.|HPO|N|
C0265551|Congenital duplication of all or part of a limb.|HPO|N|
C0265552|PIK3CA-related overgrowth spectrum (PROS) encompasses a range of clinical findings in which the core features are congenital or early-childhood onset of segmental/focal overgrowth with or without cellular dysplasia. Prior to the identification of PIK3CA as the causative gene, PROS was separated into distinct clinical syndromes based on the tissues and/or organs involved (e.g., MCAP [megalencephaly-capillary malformation] syndrome and CLOVES [congenital lipomatous asymmetric overgrowth of the trunk, lymphatic, capillary, venous, and combined-type vascular malformations, epidermal nevi, skeletal and spinal anomalies] syndrome). The predominant areas of overgrowth include the brain, limbs (including fingers and toes), trunk (including abdomen and chest), and face, all usually in an asymmetric distribution. Generalized brain overgrowth may be accompanied by secondary overgrowth of specific brain structures resulting in ventriculomegaly, a markedly thick corpus callosum, and cerebellar tonsillar ectopia with crowding of the posterior fossa. Vascular malformations may include capillary, venous, and less frequently, arterial or mixed (capillary-lymphatic-venous or arteriovenous) malformations. Lymphatic malformations may be in various locations (internal and/or external) and can cause various clinical issues, including swelling, pain, and occasionally localized bleeding secondary to trauma. Lipomatous overgrowth may occur ipsilateral or contralateral to a vascular malformation, if present. The degree of intellectual disability appears to be mostly related to the presence and severity of seizures, cortical dysplasia (e.g., polymicrogyria), and hydrocephalus. Many children have feeding difficulties that are often multifactorial in nature. Endocrine issues affect a small number of individuals and most commonly include hypoglycemia (largely hypoinsulinemic hypoketotic hypoglycemia), hypothyroidism, and growth hormone deficiency.|GeneReviews|N|
C0265553|A rare anatomical malformation characterized by polydactyly (extra fingers or toes) and syndactyly (webbed fingers or toes).|NCI|N|
C0265554|A condition in which middle parts of the hands and/or feet (digits and meta-carpals and -tarsals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic 3rd toe/fingers over absent 2nd or 3rd toes/fingers as far as oligo- or monodactyl hands and/or feet.|HPO|N|
C0265559|Acheiropody is characterized by bilateral congenital amputations of the upper and lower extremities and aplasia of the hands and feet. Specific patterns of malformations consist of a complete amputation of the distal epiphysis of the humerus, amputation of the distal part of the tibial diaphysis, and aplasia of the radius, ulna, fibula, and of the carpal, metacarpal, tarsal, metatarsal, and phalangeal bones (summary by Ianakiev et al., 2001).|OMIM|N|
C0265561|A rare congenital limb malformation characterized by mostly posterior, less frequently also anterior or lateral dislocation of the radial head from its position in the humeroradial joint. It is bilateral in the majority of cases and can occur as an isolated feature or in association with other congenital malformations and as part of a number of syndromes. The defect may at first cause only mild symptoms such as pain and limitation of flexion of the elbow, but may eventually lead to joint instability, dysplastic changes of the radial head, and arthritis.|ORDO|N|
C0265562|A rare congenital limb malformation characterized by true congenital dislocation of the shoulder, developing in utero. It can be unilateral or bilateral and is usually associated with other abnormalities of the shoulder girdle, such as in the glenoid, the humeral head, the joint capsule, and the scapula. In addition, it may be accompanied by other malformations, like developmental hip dysplasia or cardiac malformation.|ORDO|N|
C0265563|A dislocation of the head of the radius from its socket in the elbow joint.|HPO|N|
C0265565|The two portions of the clavicle (corresponding to the two primary ossification centers of the clavicle) are connected by a fibrous bridge that is contiguous with the periosteum, and a synovial membrane develops, resulting in a clavicle with a bipartite appearance radiographically. Congenital pseudarthrosis of the clavicle generally presents as a painless mass or swelling over the clavicle.|HPO|N|
C0265570|A rare, non-syndromic limb reduction defect characterized by complete or near-complete congenital absence of one (unilateral) or both (bilateral) of the upper extremities, occurring due to an intrauterine insult during the very early stages of embryonic development. It may be an isolated anomaly, but is more commonly observed in combination with multiple other congenital malformations.|ORDO|N|
C0265573|Missing or malformed long bones of the upper limbs with the distal parts (the hands) connected to the variably shortened or even absent upper extremity, leading to a flipper-like appearance, as opposed to other forms of limb malformations were either the whole limb is missing (such as amelia), or the distal part of a limb is absent (peromelia).|HPO|N|
C0265574|A rare congenital limb malformation characterized by absence or marked shortening of the proximal to mid portion of an upper limb, while the hand is normal or nearly normal. The condition may be unilateral or bilateral, and occur sporadically or as part of a malformation syndrome.|ORDO|N|
C0265575|Congenital absence of both forearm and hand is a rare developmental defect during embryogenesis characterized by unilateral or bilateral arrest of proximal to distal development of the upper limb, leading to a transverse deficiency with absence of the forearm, wrist and hand. A short below-the-elbow amputation is most commonly observed and the residual limb is usually well cushioned, with rudimentary nubbins or dumpling possibly found on the end.|ORDO|N|
C0265581|A rare congenital limb malformation characterized by partial or total absence of the radius.|ORDO|N|
C0265583|A rare congenital limb malformation characterized by complete or partial absence of the ulna.|ORDO|N|
C0265594|The total absence of the hand, with no bony elements distal to the radius or ulna.|HPO|N|
C0265609|The presence of more than the normal number of carpal bones.|HPO|N|
C0265610|Familial isolated clinodactyly of fingers is a rare, genetic, non-syndromic, congenital limb malformation disorder characterized by angulation of a digit in the radio-ulnar (coronal) plane, away from the axis of joint flexion-extension, in several members of a single family with no other associated manifestations. Deviation is usually bilateral and commonly involves the fifth finger. Affected digits present trapezoidal or delta-shaped phalanges on imaging.|ORDO|N|
C0265615|Any anatomic abnormality of the hip that is present at the time of birth.|NCI|N|
C0265621|A rare, non-syndromic limb reduction defect characterized by complete or near-complete congenital absence of one (unilateral) or both (bilateral) of the lower extremities, occurring due to an intrauterine insult during the very early stages of embryonic development. It may be an isolated anomaly, but is more commonly observed in combination with multiple other congenital malformations.|ORDO|N|
C0265624|The total absence of the foot, with no bony elements distal to the tibia or fibula.|HPO|N|
C0265625|Phocomelia affecting only the lower limbs.|HPO|N|
C0265626|Congenital absence of thigh and lower leg with foot present is a rare, non-syndromic, intercalary limb reduction defect characterized by unilateral or bilateral absence of femoral and tibio-fibular components, with the presence of intact foot elements.|ORDO|N|
C0265629|Failure of the femur to develop.|HPO|N|
C0265633|Tibial hemimelia is a rare anomaly characterized by deficiency of the tibia with relatively intact fibula. Jones et al. (1978) classified the anomaly into 4 types according to radiologic criteria. It may present as an isolated anomaly or be associated with a variety of skeletal and extraskeletal malformations. Tibial hemimelia may also constitute a part of a more complicated malformation complex or syndrome, such as the Gollop-Wolfgang complex (228250) and triphalangeal thumb-polysyndactyly syndrome (see 174500 and 188740) (Matsuyama et al., 2003).
McKay et al. (1984) reviewed syndromes of congenital defects in which tibial hemimelia is a feature.|OMIM|N|
C0265634|A rare congenital limb malformation characterized by complete or partial absence of the fibula bone combined with dysplasia and hypoplasia of the tibia and dysplasia, hypoplasia or aplasia of parts of the foot.|ORDO|N|
C0265642|A deformity of foot and ankle in which the foot is bent down and outwards.|HPO|N|
C0265646|A congenital deformity characterized by a dorsiflexed, inverted, and adducted foot, i.e., a combination of talipes calcaneus and talipes varus.|HPO|N|
C0265649|Angulation of the first metatarsal bone towards the midline. This is associated with angulation of the phalanges of the same toe away from the midline (HALLUX VALGUS).|MSH|N|
C0265654|Synostosis (bony fusion) involving one or more bones of the tarsus (calcaneus, talus, cuboid, navicular, cuneiiform bones).|HPO|N|
C0265660|Webbing or fusion of the toes, involving soft parts only or including bone structure. Bony fusions are referred to as "bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the toes in a proximo-distal axis are referred to as "Symphalangism".|HPO|N|
C0265661|A rare bone development disorder characterized by mostly anterolateral bowing of the tibia usually evident at birth, with subsequent non-healing fractures and formation of a false joint (pseudoarthrosis), and instability and angulation at the pseudoarthrosis site. In the vast majority of patients the defect is unilateral, and more than half of the cases are associated with neurofibromatosis type 1.|ORDO|N|
C0265666|A developmental defect that occurs if the two halves of the patella fail to fuse in early childhood.|HPO|N|
C0265669|A rare congenital limb malformation characterized by either hyperextension of the knee greater than 0° associated with limited flexion (congenital genu recurvatum) or permanent knee flexion with limited extension (congenital genu flexum). It can be unilateral or bilateral and may occur as an isolated malformation, be associated with other orthopedic abnormalities (like developmental dysplasia of the hip or clubfoot), or be part of a syndrome (e. g. Larsen's syndrome, arthrogryposis multiplex congenita).|ORDO|N|
C0265673|An abnormally increased curvature of the thoracic portion of the spine that is present at the time of birth.|NCI|N|
C0265675|Abnormal sideways curvature of the spine that is present at birth.|NCI|N|
C0265677|Absence of one half of the vertebral body.|HPO|N|
C0265695|Complete or partial merging of adjacent ribs.|HPO|N|
C0265699|An anterior retrosternal or parasternal hernia that can result in the herniation of liver or intestines into the chest cavity.|HPO|N|
C0265700|A posterolateral defect in the diaphragm, commonly referred to as a Bochdalek hernia, which is often accompanied by herniation of the stomach, intestines, liver, and/or spleen into the chest cavity.|HPO|N|
C0265706|Gastroschisis is a congenital defect of the abdominal wall that occurs laterally to, and often to the right of, a normally closed umbilical ring. Visceral organs that herniate through the defect are not covered by a membrane. Gastroschisis is distinct from omphalocele (164750), which is characterized by herniation of abdominal contents through the base of the umbilical cord; in omphalocele, the visceral organs are covered by membranes (summary by Mastroiacovo et al., 2007).
Both omphalocele and gastroschisis, when they occur without other malformations, are probably multifactorial (Baird and MacDonald, 1981).|OMIM|N|
C0265736|An abnormality of the nose.|HPO|N|
C0265740|Complete absence of all nasal structures.|HPO|N|
C0265756|Congenital absence of the lumen of the larynx. Laryngeal atresia is a rare condition. If the laryngeal opening fails to develop, fluid secreted by the lungs cannot be expelled. In a fetus with laryngeal atresia, the lungs are either normal or hyperplastic, not hypoplastic. Mortality is reported as 100%. At obstetric US examination, views of the fetal neck demonstrate a dilated trachea filled with trapped fluid. Views of the fetal chest show enlarged, hyperechoic lungs, with dilated fluid-filled bronchi. Fetal ascites is usually present.|HPO|N|
C0265761|A rare congenital laryngeal anomaly characterized by an abnormal dilation of the laryngeal saccule that is filled with air, maintains communication with the laryngeal lumen, and is either confined to the false vocal fold or extends upward, protruding through the thyrohyoid membrane to the neck. Symptoms may include cough, hoarseness, stridor, sore throat and uni- or bilateral swelling of the neck. Blockage of the laryngocele neck can result isn laryngomucocele, and forms laryngopyocele when infected.|ORDO|N|
C0265766|A congenital absence or considerable underdevelopment of the trachea such that communication between the larynx proximally and the alveoli of the lungs distally is lacking.|HPO|N|
C0265767|A rare malformation characterized by fixed narrowing of the tracheal lumen primarily due to complete tracheal cartilage rings and an absent membranous trachea, which causes breathing difficulty.|ORDO|N|
C0265776|A developmental anomaly characterized by focal obliteration of the proximal segment of a bronchus. The bronchial pattern is entirely normal distal to the site of stenosis.|HPO|N|
C0265780|A rare, non-syndromic respiratory or mediastinal malformation characterized by unilateral complete absence of lung tissue, bronchi, and pulmonary vessels. It may be isolated or associated with congenital malformations, most commonly with heart anomalies. Presentation is highly variable including airway narrowing, stridor, respiratory distress, recurrent respiratory tract infections, and pulmonary hypertension.|ORDO|N|
C0265783|A congenital abnormality in which the lung parenchyma is not fully developed. It may be associated with other congenital abnormalities.|NCI|N|
C0265792|A developmental defect of pulmonary lobation characterized by the presence of only two lobes of the right lung.|HPO|N|
C0265794|A small lobe sometimes found on the upper part of the right lung, formed by an infolding of the pleura and separated from the rest of the upper lobe by a deep groove lodging the azygos vein.|NCI|N|
C0265797|A congenital malformation characterized by an overdistended segment of lung, affecting an party of a lobe or the entire one. It results in progressive overinflation of one or more lobes.|HPO|N|
C0265809|A congenital defect of heart development characterized by origin of both pulmonary artery and aorta from the morphological left ventricle.|HPO|N|
C0265831|Refers to the specific combination of defects with a severely dysplastic pulmonary valve and massively dilated branch pulmonary arteries.|HPO|N|
C0265833|Dysfunction of the pulmonary valve characterized by incomplete valve closure that is present at birth.|NCI|N|
C0265836|A rare congenital tricuspid malformation characterized by narrowing of the tricuspid valve orifice due to congenital valve anomalies, such as incompletely developed leaflets, shortened and malformed chordae tendineae, small annulus, and/or abnormal number and size of papillary muscles, resulting in right ventricular inflow obstruction. Clinical presentation depends on the degree of stenosis, as well as the presence or absence of additional cardiac anomalies, and includes easy fatigability, swelling of the lower limbs, and hepatomegaly, among others.|ORDO|N|
C0265837|Congenital defect characterized by underdevelopment of the tricuspid valve.|HPO|N|
C0265843|A congenital disorder of the aortic valve in which the orifice of the valve fails to develop.|HPO|N|
C0265845|An instance of mitral valve disease that is caused by an inherited modification of the individual's genome.|MONDO|N|
C0265851|Congenital supravalvular mitral ring is a rare, congenital, mitral valve malformation characterized by an abnormal ridge of the connective tissue on the atrial side of the mitral valve, which can present clinically with signs and symptoms of left ventricle inflow obstruction (dyspnea, tachypnea, pulmonary hypertension, right ventricle hypertrophy, pulmonary edema). Association with other mitral valve anomalies, aortic stenosis, ventricular septal defect, patent ductus arteriosus, double-outlet right ventricle, pulmonary hypertension, and Shone complex has been reported.|ORDO|N|
C0265853|Fixed subaortic stenosis (FSS) is a rare heart malformation characterized by the obstruction by membranous or fibromuscular tissue of the left ventricular outflow tract (LVOT) below the aortic valve, that occurs as an isolated lesion or in association with additional cardiac malformations (e.g. ventricular septal defect, patent ductus arteriosus, coarctation of the aorta), that presents in childhood with signs of LVOT obstruction (e.g. dyspnea, chest pain, syncope, palpitations) and that can potentially lead to life-threatening complications (e.g. aortic regurgitation, infective endocarditis). It comprises three anatomical subforms: discrete fixed membranous subaortic stenosis (membranous tissue encircling the LVOT), discrete fibromuscular subaortic stenosis (fibromuscular tissue encircling the LVOT) and tunnel subaortic stenosis (fibromuscular diffuse tunnel-like narrowing of the LVOT), the two latter forms being generally more severe than the membranous form.|ORDO|N|
C0265856|Underdevelopment of the right-sided structures of the heart.|HPO|N|
C0265857|Uhl anomaly of the right ventricle refers to the almost complete absence of right ventricular myocardium, normal tricuspid valve, and preserved septal and left ventricular myocardium.|HPO|N|
C0265865|Mesocardia is an abnormal location of the heart in which the heart is in a midline position and the longitudinal axis of the heart lies in the mid-sagittal plane.|HPO|N|
C0265870|A developmental defect in which the coronary sinus fails to form.|HPO|N|
C0265876|Endocardial fibroelastosis unassociated with other cardiac abnormalities.|SNOMEDCT_US|N|
C0265878|Narrowing or constriction of the aorta localized proximal to the ductus arteriosus, i.e., to the preductal region of aortic arch.|HPO|N|
C0265879|Narrowing or constriction of the aorta localized distal to the ductus arteriosus, i.e., to the postductal region of aortic arch.|HPO|N|
C0265881|Underdevelopment of the arch of aorta.|HPO|N|
C0265882|Significant luminal narrowing of a long segment of or the entire ascending aorta.|HPO|N|
C0265883|A conenital abnormality of the aortic arch in which the two embryonic aortc arches form a vascular ring that surrounds the trachea or esophagus and then join to form the descending aorta. Double aortic arch can cause symptoms because of compression of the esophagus (dysphagia, cyanosis while eating) or trachea (stridor).|HPO|N|
C0265885|A patent ductus arteriosus or ductal ligament completes the ring.|HPO|N|
C0265886|An overriding aorta is a congenital heart defect where the aorta is positioned directly over a ventricular septal defect, instead of over the left ventricle. The result is that the aorta receives some blood from the right ventricle, which reduces the amount of oxygen in the blood. It is one of the four conditions of the Tetralogy of Fallot. The aortic root can be displaced toward the front (anteriorly) or directly above the septal defect, but it is always abnormally located to the right of the root of the pulmonary artery. The degree of override is quite variable, with 5-95% of the valve being connected to the right ventricle.|HPO|N|
C0265898|A congenital malformation with abnormal connection between one of the coronary arteries and a heart chamber or another blood vessel.|HPO|N|
C0265900|An abnormal origin of the left circumflex artery (LCX) from the right coronary artery. Normally, the left anterior descending (LAD) and the LCX arise from a common stem, the left main coronary artery (LMCA).|HPO|N|
C0265905|A congenital defect with aplasia (absence) of one of the right or left pulmonary artery.|HPO|N|
C0265908|A congenital anomaly with a narrowing or complete absence of the opening between the right ventricle and the pulmonary artery.|HPO|N|
C0265910|Underdevelopment of the pulmonary artery.|HPO|N|
C0265911|A congenital cardiovascular abnormality characterized by the narrowing of the lumen of the main pulmonary artery or its branches. It may be associated with other congenital heart malformations. Signs and symptoms include dyspnea, tachypnea, tachycardia, fatigue, and edema.|NCI|N|
C0265914|An abnormality of the pulmonary veins.|HPO|N|
C0265916|A rare developmental defect during embryogenesis where some or all of the pulmonary veins drain into the right atrium or the systemic veins, with or without the presence of pulmonary venous obstruction, leading to various manifestations such as fatigue, exertional dyspnea, pulmonary arterial hypertension, cyanosis and progressive congestive heart failure. The two main subtypes are congenital partial pulmonary venous return anomaly (PAPVC; see this term), where one or a few of the pulmonary veins are anomalous, and congenital total pulmonary venous return anomaly (TAPVC, see this term), where all of the pulmonary veins are anomalous.|ORDO|N|
C0265929|A rare congenital anomaly of the great veins characterized by unilateral or bilateral complete absence of the superior vena cava (SVC). Unilateral agenesis is mainly asymptomatic (most of the time diagnosed incidentally) and patients usually have otherwise normal heart structure. Bilateral agenesis, however, is frequently associated with other congenital cardiac anomalies and/or conduction abnormalities (such as tetralogy of Fallot, atrial septal defect) and typically present symptoms of SVC syndrome.|ORDO|N|
C0265931|A rare congenital vascular anomaly that results when the left superior cardinal vein caudal to the innominate vein fails to regress.|HPO|N|
C0265934|A rare vascular anomaly characterized by congenital narrowing of the inferior vena cava mostly at the diaphragmatic level or hepatic segment, with or without web formation. Patients may present with deep vein thrombosis below the obstructed segment as well as swelling, pain, and varices of the lower extremities, abdominal pain/varices, or hematochezia. Presence of collateral veins between upper and lower segments of the stenosis, as well as venous aneurysms are typical associated findings.|ORDO|N|
C0265961|The erythrokeratodermias are a clinically variable and genetically heterogeneous group of inherited disorders characterized by widespread erythematous plaques, stationary or migratory, associated with nonmigratory hyperkeratoses (summary by Ishida-Yamamoto et al., 1997). The condition is usually present at birth or occurs during the first year but may begin later in childhood or even in early adulthood. Lesions preferentially affect the face, buttocks, and extensor surfaces of the limbs. Palmoplantar keratoderma occurs in about half the cases, but hair, nails, and teeth are not affected (summary by Macfarlane et al., 1991).
Genetic Heterogeneity of Erythrokeratodermia Variabilis et Progressiva
See EKVP2 (617524), caused by mutation in the GJB4 gene (605425); EKVP3 (617525), caused by mutation in the GJA1 gene (121014); EKVP4 (617526), caused by mutation in the KDSR gene (136440); EKVP5 (617756), caused by mutation in the KRT83 gene (602765); EKVP6 (618531), caused by mutation in the TRPM4 gene (606936); and EKPV7 (619209), caused by mutation in the PERP gene (609301).|OMIM|N|
C0265962|Netherton syndrome is a disorder that affects the skin, hair, and immune system. Newborns with Netherton syndrome have skin that is red and scaly (ichthyosiform erythroderma), and the skin may leak fluid. Some affected infants are born with a tight, clear sheath covering their skin called a collodion membrane. This membrane is usually shed during the first few weeks of life. Because newborns with this disorder are missing the protection provided by normal skin, they are at risk of becoming dehydrated and developing infections in the skin or throughout the body (sepsis), which can be life-threatening. Affected babies may also fail to grow and gain weight at the expected rate (failure to thrive). The health of older children and adults with Netherton syndrome usually improves, although they often remain underweight and of short stature.\n\nAfter infancy, the severity of the skin abnormalities varies among people with Netherton syndrome and can fluctuate over time. The skin may continue to be red and scaly, especially during the first few years of life. Some affected individuals have intermittent redness or experience outbreaks of a distinctive skin abnormality called ichthyosis linearis circumflexa, involving patches of multiple ring-like lesions. The triggers for the outbreaks are not known, but researchers suggest that stress or infections may be involved.\n\nItchiness is a common problem for affected individuals, and scratching can lead to frequent infections. Dead skin cells are shed at an abnormal rate and often accumulate in the ear canals, which can affect hearing if not removed regularly. The skin is abnormally absorbent of substances such as lotions and ointments, which can result in excessive blood levels of some topical medications. Because the ability of the skin to protect against heat and cold is impaired, affected individuals may have difficulty regulating their body temperature.\n\nPeople with Netherton syndrome have hair that is fragile and breaks easily. Some strands of hair vary in diameter, with thicker and thinner spots. This feature is known as bamboo hair, trichorrhexis nodosa, or trichorrhexis invaginata. In addition to the hair on the scalp, the eyelashes and eyebrows may be affected. The hair abnormality in Netherton syndrome may not be noticed in infancy because babies often have sparse hair.\n\nMost people with Netherton syndrome have immune system-related problems such as food allergies, hay fever, asthma, or an inflammatory skin disorder called eczema.|MedlinePlus Genetics|N|
C0265964|Classic Vohwinkel syndrome is characterized by papular and honeycomb keratoderma associated with constrictions of digits leading to autoamputation, distinctive starfish-like acral keratoses, and moderate degrees of sensorineural deafness (summary by Maestrini et al., 1999)
A variant form of Vohwinkel syndrome, mutilating keratoderma with ichthyosis (604117), is caused by mutation in the gene for loricrin (LOR; 152445) on chromosome 1q21. A form of mutilating palmoplantar keratoderma with periorificial keratotic plaques (Olmsted syndrome; 614594) is caused by mutation in the TRPV3 gene (607066) on chromosome 17p13.2.|OMIM|N|
C0265965|Dyskeratosis congenita and related telomere biology disorders (DC/TBD) are caused by impaired telomere maintenance resulting in short or very short telomeres. The phenotypic spectrum of telomere biology disorders is broad and includes individuals with classic dyskeratosis congenita (DC) as well as those with very short telomeres and an isolated physical finding. Classic DC is characterized by a triad of dysplastic nails, lacy reticular pigmentation of the upper chest and/or neck, and oral leukoplakia, although this may not be present in all individuals. People with DC/TBD are at increased risk for progressive bone marrow failure (BMF), myelodysplastic syndrome or acute myelogenous leukemia, solid tumors (usually squamous cell carcinoma of the head/neck or anogenital cancer), and pulmonary fibrosis. Other findings can include eye abnormalities (epiphora, blepharitis, sparse eyelashes, ectropion, entropion, trichiasis), taurodontism, liver disease, gastrointestinal telangiectasias, and avascular necrosis of the hips or shoulders. Although most persons with DC/TBD have normal psychomotor development and normal neurologic function, significant developmental delay is present in both forms; additional findings include cerebellar hypoplasia (Hoyeraal Hreidarsson syndrome) and bilateral exudative retinopathy and intracranial calcifications (Revesz syndrome and Coats plus syndrome). Onset and progression of manifestations of DC/TBD vary: at the mild end of the spectrum are those who have only minimal physical findings with normal bone marrow function, and at the severe end are those who have the diagnostic triad and early-onset BMF.|GeneReviews|N|
C0265966|Hereditary benign intraepithelial dyskeratosis (HBID) is a rare inherited disease characterized by elevated plaques on the ocular and oral mucous membranes. The bulbar conjunctiva is involved, especially in the nasal and temporal perilimbal region. Dilated superficial vessels in association with the conjunctival plaques give the eye an overall red appearance, which accounts for the disease's nickname of 'red eye.'  Morphologically, the lesions consist of a dyskeratotic hyperplastic epithelium. The oral lesions, which are typically asymptomatic and may go unrecognized, usually appear as thick, soft, white papules and plaques of various sizes, involving any part of the oral cavity. The ocular manifestations in this condition vary in severity from asymptomatic plaques on the bulbar conjunctiva to complete involvement of the cornea with severe vision loss. Patients commonly complain of symptoms of irritation, such as erythema, itching, excessive lacrimation, and photophobia. Periods of acute intensification of symptoms are common, especially in the spring. The lesions may become apparent in early infancy and may date from birth. The plaques persist throughout life and sometimes progress, but may wax and wane (summary by Witkop et al., 1960; Reed et al., 1979; and Baroni et al., 2009).|OMIM|N|
C0265970|A rare skin disease that is the most common form of porokeratosis characterized by the presence of several small annular plaques with a distinctive keratotic rim found most commonly on sun-exposed areas of the skin, particularly the extremities.|ORDO|N|
C0265971|Acrokeratosis verruciformis of Hopf (AKV) is a localized disorder of keratinization affecting the distal extremities. Onset occurs early in life (Dhitavat et al., 2003).|OMIM|N|
C0265974|Birthmarks are abnormalities of the skin that are present when a baby is born. There are two types of birthmarks. Vascular birthmarks are made up of blood vessels that haven''t formed correctly. They are usually red. Two types of vascular birthmarks are hemangiomas and port-wine stains. Pigmented birthmarks are made of a cluster of pigment cells which cause color in skin. They can be many different colors, from tan to brown, gray to black, or even blue. Moles can be birthmarks.CHAR(13) No one knows what causes many types of birthmarks, but some run in families. Your baby''s doctor will look at the birthmark to see if it needs any treatment or if it should be watched. Pigmented birthmarks aren''t usually treated, except for moles. Treatment for vascular birthmarks includes laser surgery. CHAR(13) Most birthmarks are not serious, and some go away on their own. Some stay the same or get worse as you get older. Usually birthmarks are only a concern for your appearance. But certain types can increase your risk of skin cancer. If your birthmark bleeds, hurts, itches, or becomes infected, call your health care provider.CHAR(13)|MEDLINEPLUS|N|
C0265979|A rare, benign soft tissue tumor that typically occurs within the first two years of life.|HPO|N|
C0265982|A congenital skin lesion characterized by irregular hypopigmented macules that coalesce to form plaques and occur particularly on the chest. It is generally present at birth or develops in the first days of life. It is more common in females. Diagnosis is confirmed by applying gentle friction to the lesion and the surrounding skin and checking that the erythema produced in the healthy skin does not appear in the hypopigmented lesion. This pale macule becomes more conspicuous when the lesion and its surroundings are rubbed. The margin of the naevus is ill-defined and consists of an archipelago of small anemic spots.|HPO|N|
C0265985|Congenital deep dermal melanosis in the sacral area.|HPO|N|
C0265987|Nevus comedonicus (NC) is a rare type of epidermal nevus with predilection for the face and neck area. The condition develops within the first decade of life in most patients. NC is characterized by dilated, plugged follicular ostia containing lamellar keratinaceous material and grouped in a honeycomb pattern; the distribution of lesions may be unilateral, bilateral, linear, interrupted, segmental, or along the lines of Blaschko. NC may be nonpyogenic with an acne-like appearance or associated with the formation of cysts, papules, pustules, and abscesses. Histologically, the lesions are large, grouped, dilated follicular ostia devoid of hair shafts but filled with keratin layers (summary by Tchernev et al., 2013).|OMIM|N|
C0265992|A congenital condition characterized by the absence of hair on the scalp or entire body. The lack of hair is rarely absolute and is usually accompanied by incompletely grown, lanugo-like hair. It affects males twice as much as females and a familial tendency is common.|NCI|N|
C0265997|A epidermal appendage anomaly that involves the nail.|MONDO|N|
C0265998|Congenital anonychia is defined as the absence of fingernails and toenails. Anonychia and its milder phenotypic variant, hyponychia, usually occur as a feature of genetic syndromes, in association with significant skeletal and limb anomalies. Isolated nonsyndromic congenital anonychia/hyponychia is a rare entity that usually follows autosomal recessive inheritance with variable expression, even within a given family. The nail phenotypes observed range from no nail field to a nail field of reduced size with an absent or rudimentary nail (summary by Bruchle et al., 2008). This form of nail disorder is referred to here as nonsyndromic congenital nail disorder-4 (NDNC4).
For a list of other nonsyndromic congenital nail disorders and a discussion of genetic heterogeneity, see NDNC1 (161050).|OMIM|N|
C0266000|Koilonychia, or 'spoon nails,' is a relatively uncommon disorder in which the nails are abnormally thin and concave from side to side, with the edges turned up. Single or multiple fingers and/or toes may be involved (summary by Bumpers and Bishop, 1980). Koilonychia is referred to here as nonsyndromic congenital nail disorder-2 (NDNC2).
For a list of other nonsyndromic congenital nail disorders and a discussion of genetic heterogeneity, see NDNC1 (161050).|OMIM|N|
C0266003|The presence of fibromata beneath finger or toenails.|HPO|N|
C0266004|Bart-Pumphrey syndrome (BAPS) is an autosomal dominant disorder characterized by sensorineural hearing loss, palmoplantar keratoderma, knuckle pads, and leukonychia, which shows considerable phenotypic variability (summary by Richard et al., 2004).|OMIM|N|
C0266006|Bjornstad syndrome (BJS) is an autosomal recessive disorder characterized by sensorineural hearing loss and pili torti. The hearing loss is congenital and of variable severity. Pili torti (twisted hairs), a condition in which the hair shafts are flattened at irregular intervals and twisted 180 degrees from the normal axis, making the hair very brittle, is usually recognized early in childhood (Selvaag, 2000).|OMIM|N|
C0266009|Failure to develop and congenital absence of the breast.|HPO|N|
C0266010|A rare breast malformation characterized by the presence of accessory breasts with a complete ductal system, areola, and nipple in addition to two normal breasts. The accessory breast tissue mostly lies along the milk lines. It is often not recognized until puberty, when it begins to respond to regular hormonal fluctuations, and may develop the same changes as normal breasts throughout life.|ORDO|N|
C0266011|Presence of more than two nipples.|HPO|N|
C0266013|Underdevelopment of the breast.|HPO|N|
C0266015|Congenital structural abnormalities of the DIGESTIVE SYSTEM.|MSH|N|
C0266019|A spherical hollow structure with a smooth muscle coat, lined by a mucous membrane, and attached to any part of the gastrointestinal tract, from the base of the tongue to the anus.|HPO|N|
C0266025|Ectopic toothCHAR(13)|HL7V3.0|N|
C0266030|A supernumerary tooth in the midline between the maxillary central incisors.|HPO|N|
C0266033|The development of two teeth from a single tooth bud, leading to a larger fused tooth.|HPO|N|
C0266035|Small nodules of enamel on the root of a tooth.|HPO|N|
C0266036|Increased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD above mean for age. Alternatively, an apparently increased maximum width of the tooth.|HPO|N|
C0266037|An abnormal conical form of the teeth, that is, a tooth whose sides converge or taper together incisally.|HPO|N|
C0266039|Increased volume of dental pulp of permanent molar characterized by a crown body-root ratio equal or larger than 1:1 or an elongated pulp chambers and apical displacement of the bifurcation or trifurcation of the roots.|HPO|N|
C0266044|The decrease or absence of cementum. The cementum anchors the periodontal ligament attachment fiber between the tooth root and the alveolar bone. Its absence leads to early loss of teeth.|HPO|N|
C0266050|Persistence of the primary teeth beyond the age by which they normally are shed and replaced by the permanent teeth.|HPO|N|
C0266054|Premature tooth eruption, which can be defined as tooth eruption more than 2 SD earlier than the mean eruption age.|HPO|N|
C0266058|Anterior crossbiteCHAR(13)|HL7V3.0|N|
C0266059|Posterior crossbiteCHAR(13)|HL7V3.0|N|
C0266060|Anterior open bite is a malocclusion characterized by a gap between the anterior teeth (incisors), that is, by a deficiency in the normal vertical overlap between antagonist incisal edges when the posterior teeth are in occlusion.|HPO|N|
C0266061|Visible space between the dental arches in occlusion.|HPO|N|
C0266062|Posterior open biteCHAR(13)|HL7V3.0|N|
C0266063|Maxillary teeth cover the mandibular teeth when biting to an increased degree. The feature is defined as a vertical overlap of the maxillary incisors over the mandibular incisors that exceeds 2 mm.|HPO|N|
C0266089|A congenital abnormality consisting of a fissure in the midline of the lip and upper jaw.|NCI|N|
C0266090|A congenital abnormality consisting of a fissure in the midline of the lip, hard and/or soft palate and upper jaw.|NCI|N|
C0266103|A non-odontogenic cyst of developmental origin that arises in the midline of the anterior maxilla. It is found exclusively in the midline of the anterior hard palate. (WHO 2017)|NCI|N|
C0266111|Tongue with a median apical indentation or fork.|HPO|N|
C0266121|Lack of the uvula.|HPO|N|
C0266126|A structural abnormality of the esophagus.|HPO|N|
C0266133|A rare, non-syndromic, congenital esophageal malformation characterized by a false diverticulum, most often located in the upper, posterior esophagus (pharyngo-esophageal) but may occur anywhere along the esophagus (mid-thoracic or epiphrenic). Many patients are asymptomatic, but bad breath, chronic cough, respiratory distress, food regurgitation, dysphagia, chest pain or discomfort, and aspiration pneumonia are typical presenting manifestations.|ORDO|N|
C0266135|A developmental disorder in which there is a duplication of a portion of the muscle and submucosa of the esophagus without epithelial duplication.|HPO|N|
C0266139|Congenital tracheoesophageal fistula without esophageal atresia.|NCI|N|
C0266150|A developmental anomaly wtih a small tubular or saccular midline stomach.|HPO|N|
C0266166|A developmental disorder in which there is a duplication the entire intestine or of a portion of the intestine.|HPO|N|
C0266172|A rare, congenital defect of the small intestine characterized by disruption in the normal small intestine continuity, resulting in intestinal obstruction. The malformation may be classified in four different types of small bowel atresia (SBA) based on the anatomical obstruction.|ORDO|N|
C0266174|A developmental defect resulting in complete obliteration of the duodenal lumen, that is, an abnormal closure of the duodenum.|HPO|N|
C0266175|Jejunal atresia is the most common cause of bowel obstruction in the newborn. In this condition, because of agenesis of the mesentery, the distal small bowel comes straight off the caecum and twists around the marginal artery, suggesting a maypole, a Christmas tree, or an apple peel at operation. Obliteration of the superior mesenteric artery may underlie this malformation.|OMIM|N|
C0266176|An abnormal closure, or atresia of the tubular structure of the ileum.|HPO|N|
C0266177|Dilation and elongation of the duodenum with hypertrophy of all layers of the duodenum.|HPO|N|
C0266180|A rare non-syndromic diaphragmatic or abdominal wall malformation, a remnant of omphalomesenteric duct, characterized by cuboidal or columnar epithelium with gastrointestinal differentiation. Patients may be asymptomatic or present with infraumbilical mass, umbilical lesion with secretions, abdominal pain, hernia, abscess, gastrointestinal tract bleeding, intestinal obstruction, and acute abdomen.|ORDO|N|
C0266190|A developmental defect resulting in complete obliteration of the lumen of the colon. That is, there is an abnormal closure, or atresia of the tubular structure of the colon.|HPO|N|
C0266196|An anatomical anomaly that results from an abnormal rotation of the gut as it returns to the abdominal cavity during embryogenesis.|HPO|N|
C0266200|A colon of abnormally small caliber.|HPO|N|
C0266225|Developmental anomaly in which the vagina, bladder, and rectum fuse resulting in a common channel.|HPO|N|
C0266231|Abnormal displacement or malposition of the anus.|HPO|N|
C0266249|An abnormality of the gallbladder.|HPO|N|
C0266251|A developmental defect in which the gallbladder fails to form.|HPO|N|
C0266254|An abnormal configuration in which the gallbladder is pedunculated, hanging free of the liver, and attached only by the cystic mesentery,|HPO|N|
C0266258|Absence of the liver owing to a failure of the liver to develop.|HPO|N|
C0266267|Hypoplasia of the pancreas.|HPO|N|
C0266268|A rare asymptomatic embryopathy characterized by the presence of pancreatic tissue in other sites of the body such as the splenic pedicle, gonadic pedicles, intestinal mesentery, duodenum wall, upper jejunum, or, more rarely, the gastric wall, ileum, gallbladder or spleen.|ORDO|N|
C0266270|A congenital anomaly of the pancreas that results from failed fusion of the dorsal and ventral ducts during embyological development. Three variants have been described|HPO|N|
C0266273|Absent development of the adrenal gland.|HPO|N|
C0266275|Abnormal anatomical location of the adrenal gland.|HPO|N|
C0266276|A term that refers to the presence of benign adrenal cortical tissue outside the adrenal glands.|NCI|N|
C0266283|Mislocalised thyroid gland.|HPO|N|
C0266284|An aberrant thyroid gland or Ectopic thyroid located at the base of the tongue, just posterior to the foramen cecum as a result of a failure of the thyroid to descend.|HPO|N|
C0266286|Incomplete and delayed regression of the thyroglossal duct.|NCI|N|
C0266292|An abnormality of the kidney.|HPO|N|
C0266294|A unilateral form of agenesis of the kidney.|HPO|N|
C0266295|Hypoplasia of the kidney.|HPO|N|
C0266298|A congenital anomaly of the urinary tract, in which the kidney is duplicated and is drained via two separate renal pelves and ureters.|HPO|N|
C0266304|A congenital abnormality of the kidney characterized by the presence of two separate pelvicocaliceal systems with a single or duplex ureter.|NCI|N|
C0266305|Congenital fusion of two kidneys.|MSH|N|
C0266307|abnormal increase in the number of otherwise normal cells in the kidney without tumor formation that leads to kidney enlargement; it differs from hypertrophy, which is an increase in bulk of the kidney without an increase in the number of cells.|CSP|N|
C0266312|A congenital renal disorder characterized by the presence of small cysts in the renal cortex and/or renal medulla.|NCI|N|
C0266313|Renal tubular dysgenesis is a severe kidney disorder characterized by abnormal development of the kidneys before birth. In particular, kidney structures called proximal tubules are absent or underdeveloped. These structures help to reabsorb needed nutrients, water, and other materials into the blood and excrete everything else into the urine. Without functional proximal tubules, the kidneys cannot produce urine (a condition called anuria).\n\nFetal urine is the major component of the fluid that surrounds the fetus (amniotic fluid), and anuria leads to decreased amniotic fluid levels (oligohydramnios). Amniotic fluid helps cushion and protect the fetus and plays a role in the development of many organs, including the lungs. Oligohydramnios causes a set of abnormalities called the Potter sequence, which includes distinctive facial features such as a flattened nose and large, low-set ears; excess skin; inward- and upward-turning feet (clubfeet); and underdeveloped lungs.\n\nRenal tubular dysgenesis also causes severe low blood pressure (hypotension). In addition, bone development in the skull is abnormal in some affected individuals, causing a large space between the bones of the skull (fontanelles).\n\nAs a result of the serious health problems caused by renal tubular dysgenesis, affected individuals usually die before birth, are stillborn, or die soon after birth from respiratory failure. Rarely, with treatment, affected individuals survive into childhood. Their blood pressure usually normalizes, but they quickly develop chronic kidney disease, which is characterized by reduced kidney function that worsens over time.|MedlinePlus Genetics|N|
C0266316|Collection of urine in the renal pelvis that results in dilatation of the renal pelvis and calyces that is present at birth.|NCI|N|
C0266317|Isolated enlargement of renal calyces without obstruction.|NCI|N|
C0266320|A developmental defect defined by the failure of the formation of the lumen (tube) of the ureter.|HPO|N|
C0266323|Dilatation of the ureter caused by obstruction of urine flow that is present at birth.|NCI|N|
C0266324|A developmental disturbance with extreme ureteral dilatation.|HPO|N|
C0266328|A congenital anomaly in which the ureteral orifice drains into an abnormal location.|NCI|N|
C0266345|The presence of an abnormal membrane obstructing the urethra.|HPO|N|
C0266348|A rare congenital genitourinary anomaly, encompassing a wide spectrum of anatomic variants in which the urethra is partially or totally duplicated, which may be asymptomatic or cause symptoms such as incontinence, recurrent urinary infections and difficulty urinating.|ORDO|N|
C0266357|Persistence of the urachal canal resulting in a canal between the bladder and the umbilicus.|HPO|N|
C0266361|The presence of both ovarian and testicular tissues either in the same or in opposite gonads. Affected persons have ambiguous genitalia and may have 46,XX or 46,XY karyotypes or 46,XX/XY mosaicism.|HPO|N|
C0266362|A genital phenotype that is not clearly assignable to a single gender. Ambiguous genitalia can be evaluated using the Prader scale|HPO|N|
C0266368|Aplasia, that is failure to develop, of the ovary.|HPO|N|
C0266370|Undescended or ectopic ovaries are characterized by the attachment of the upper pole of the ovary to an area above the level of the common iliac vessels.|HPO|N|
C0266371|A developmental disorder characterized by the progressive loss of primordial germ cells in the developing ovaries of an embryo, leading to hypoplastic ovaries composed of wavy connective tissue with occasional clumps of granulosa cells, and frequently mesonephric or hilar cells.|HPO|N|
C0266375|The presence of a supernumerary Fallopian tube.|HPO|N|
C0266383|An abnormality of the uterus.|HPO|N|
C0266384|A congenital abnormality characterized by the complete absence of the uterus.|NCI|N|
C0266387|The presence of a bicornuate uterus.|HPO|N|
C0266389|A uterus that has a single horn, with a banana-like shape that may or may not have a secondary rudimentary uterine horn.|HPO|N|
C0266393|A malformation of the uterus in which the uterus is present as a paired organ as a result of the failure of fusion of the mullerian ducts during embryogenesis.|HPO|N|
C0266399|Underdevelopment of the uterus.|HPO|N|
C0266401|Partial septate uterus is a rare, non-syndromic uterovaginal malformation characterized by a uterus that has a longitudinal septum which extends from the uterine fundus and does not reach the internal cervical os (variable lengths and widths may be observed). Although frequently asymptomatic, an increased risk of poor reproductive outcome has been observed. Urinary tract abnormalities are very rarely associated.|ORDO|N|
C0266404|Congenital absence of the uterine cervix.|HPO|N|
C0266411|The presence of a vaginal septum, thereby creating a vaginal duplication. The septum is longitudinal in the majority of cases.|HPO|N|
C0266414|A congenital birth defect characterized by the absence of a normal vaginal opening.|NCI|N|
C0266419|Synechia vulvae (adhesions of the labia minora) are characterized by a complete or partial fusion of the labia minora in the midline.|HPO|N|
C0266427|SRXY11 is characterized by a genital phenotype that may range from predominantly female to predominantly male, including marked sex ambiguity depending on the duration of normal testicular function prior to the loss of testicular tissue. Approximately half of patients present with micropenis and bilateral cryptorchidism, and half present with female-appearing or ambiguous external genitalia (da Silva et al., 2019; McElreavey et al., 2020).
The testicular regression syndrome (TRS) was delineated by Sarto and Opitz (1973), who called it the XY gonadal dysgenesis syndrome. It is characterized primarily by the absence of gonads in an XY person. In most cases, uterus and fallopian tubes are absent but small tubular structures interpreted as mullerian or wolffian rudiments (or both) are present. The range of virilizing effects due to early testicular tissue extends from none in phenotypic females with only slightly hypoplastic normal external genitalia, well-formed but hypoplastic uterus, and well-formed tubes (De Marchi et al., 1981) to the anorchic phenotypic male (Edman et al., 1977). Most affected individuals lack a vagina but a urogenital sinus or pseudovaginal urethral outpouching is found. Partial labioscrotal fusion and clitoris enlargement are common, breast development is absent, and postpubertal eunuchoid habitus is the rule. Sometimes nongenital anomalies are present (summary by Rosenberg et al., 1984).|OMIM|N|
C0266429|Having only one testis in the scrotum.|HPO|N|
C0266430|The presence of more than two testes.|HPO|N|
C0266432|Leydig cell hypoplasia is an autosomal recessive disorder in which loss of function of the LHCGR gene in the male prevents normal sexual development. Two types of LCH have been defined (Toledo, 1992). Type I, a severe form caused by complete inactivation of LHCGR, is characterized by complete 46,XY male pseudohermaphroditism, low testosterone and high LH levels, total lack of responsiveness to LH/CG challenge, lack of breast development, and absent development of secondary male sex characteristics. Type II, a milder form caused by partial inactivation of the gene, displays a broader range of phenotypic expression ranging from micropenis to severe hypospadias. Females with inactivating mutations in the LHCGR gene display a mild phenotype characterized by defective follicular development and ovulation, amenorrhea, and infertility (review by Themmen and Huhtaniemi, 2000).
Reviews
Arnhold et al. (2009) noted that the clinical manifestations of female patients with hypogonadotropic hypogonadism due to isolated LH deficiency (HH23; 228300) are very similar to those of women with hypergonadotropic hypogonadism due to inactivating mutations of the LH receptor: all have female external genitalia, spontaneous development of normal pubic hair and breasts at puberty, and normal to late menarche followed by oligoamenorrhea and infertility. Pelvic ultrasound shows a small or normal uterus and normal or enlarged ovaries with cysts. However, women with LHB (152780) mutations can be treated with luteinizing hormone or chorionic gonadotropin (CG; 118860) replacement therapy; women with LH receptor mutations are resistant to LH, and no treatment is effective in recovering their fertility.|OMIM|N|
C0266444|Aplasia (congenital absence) of the vas deferens.|HPO|N|
C0266445|Abnormal closure or blockage of the vas deferens.|HPO|N|
C0266449|Most brain malformations begin long before a baby is born. Something damages the developing nervous system or causes it to develop abnormally. Sometimes it''s a genetic problem. In other cases, exposure to certain medicines, infections, or radiation during pregnancy interferes with brain development. Parts of the brain may be missing, abnormally small or large, or not fully developed.CHAR(13) Treatment depends upon the problem. In many cases, treatment only helps with symptoms. It may include antiseizure medicines, shunts to drain fluid from the brain, and physical therapy.CHAR(13) There are head malformations that do not involve the brain. Craniofacial disorders are the result of abnormal growth of soft tissue and bones in the face and head. It''s common for new babies to have slightly uneven heads, but parents should watch the shape of their baby''s head for possible problems.CHAR(13) NIH: National Institute of Neurological Disorders and StrokeCHAR(13)|MEDLINEPLUS|N|
C0266453|A malformation of the neural tube with a large amount of protruding brain tissue and absence of calvarium.|HPO|N|
C0266456|A rare central nervous system malformation characterized by herniation of meninges through a permanent defect in the skull. It is lined by arachnoid and contains cerebrospinal fluid, but no brain tissue. Signs and symptoms depend on the location of the lesion and are related to mass effect, skull deformities, or leaking of cerebrospinal fluid.|ORDO|N|
C0266463|A spectrum of malformations of cortical development caused by insufficient neuronal migration that subsumes the terms agyria, pachygyria and subcortical band heterotopia. See also neuropathological definitions for 2-, 3-, and 4-layered lissencephaly.|HPO|N|
C0266464|Polymicrogyria is a congenital malformation of the cerebral cortex characterized by abnormal cortical layering (lamination) and an excessive number of small gyri (folds).|HPO|N|
C0266470|Cerebellar hypoplasia is a descriptive term implying a cerebellum with a reduced volume, but a normal shape and is stable over time.|HPO|N|
C0266476|Stenosis of the cerebral aqueduct (also known as the mesencephalic duct, aqueductus mesencephali, or aqueduct of Sylvius), which connects the third cerebral ventricle in the diencephalon to the fourth ventricle, which is between the pons and cerebellum.|HPO|N|
C0266481|Colloid cysts of the third ventricle are benign tumors that may lie dormant and be found incidentally at autopsy or on CT or MRI examination. By contrast, in some cases they may cause severe, acute obstruction to the flow of cerebrospinal fluid, leading to coma and death. More commonly, they present as recurrent headaches, ataxia, nausea and vomiting, depression, memory loss, and emotional lability, all of which are associated with chronic hydrocephalus. Symptomatic colloid cysts are seen most commonly in middle life, but they also occur in childhood and old age (summary by Partington and Bookalil, 2004).|OMIM|N|
C0266484|Brunelli et al. (1996) described schizencephaly as an extremely rare congenital disorder characterized by a full-thickness cleft within the cerebral hemispheres. The clefts are lined with gray matter and most commonly involve the parasylvian regions (Wolpert and Barnes, 1992). Large portions of the cerebral hemispheres may be absent and replaced by cerebrospinal fluid. Two types of schizencephaly have been described, depending on the size of the area involved and the separation of the cleft lips (Wolpert and Barnes, 1992). Type I schizencephaly consists of a fused cleft. This fused pial-ependymal seam forms a furrow in the developing brain, and is lined by polymicrogyric gray matter. In type II schizencephaly, there is a large defect, a holohemispheric cleft in the cerebral cortex filled with fluid and lined by polymicrogyric gray matter. The clinical manifestations depend on the severity of the lesion. Patients with type I are often almost normal; they may have seizures and spasticity. In type II abnormalities, there is usually mental retardation, seizures, hypotonia, spasticity, inability to walk or speak, and blindness.
Schizencephaly may be part of the larger phenotypic spectrum of holoprosencephaly (HPE; see 236100).|OMIM|N|
C0266490|Nasal glial heterotopia is a rare developmental abnormality presenting usually at birth or in early childhood (rarely in adulthood) as a benign, non-pulsatile mass that can lead to nasal obstruction, deformation of the septum and nasal bone, and respiratory distress if untreated. Nasal glial heterotopias have no communication with the central nervous system; however an associated defect in the cribriform plate is sometimes reported.|ORDO|N|
C0266491|Heterotopia or neuronal heterotopia are macroscopic clusters of misplaced neurons (gray matter), most often situated along the ventricular walls or within the subcortical white matter.|HPO|N|
C0266493|A very rare, slow growing, usually asymptomatic hamartomatous lesion that arises from ectopic notochordal tissue. Morphologically it is characterized by the presence of typical physaliphorous cells in a myxoid background.|NCI|N|
C0266494|Rare vascular anomaly involving a communication between the intracranial and extracranial venous circulation via diploe, the central spongy layer of cranial bone. It is often characterized by dilated venous structures on the scalp due to abnormal drainage from the intracranial venous sinuses. Sinus pericranii can be congenital or traumatic in origin.|MSH|N|
C0266507|The severe form of a neural tube defect where the open neural tube appears as a flattened, plate-like mass of nervous tissue with no overlying membrane.|HPO|N|
C0266508|Rachischisis is a neural tube defect, which occurs when the neural folds do not join at the midline and the undifferentiated neuroectoderm remains exposed.|SNOMEDCT_US|N|
C0266510|Congenital absence of the spinal cord.|HPO|N|
C0266521|The Marcus Gunn phenomenon consists of unilateral congenital ptosis and rapid exaggerated elevation of the ptotic lid on moving of the lower jaw. Although it usually persists into adult life, the phenomenon is seen in its most marked forms in infancy when the rapid spasmodic movements of the lid are apparent during sucking and thus are noted soon after birth (Doco-Fenzy et al., 2006).|OMIM|N|
C0266526|Norrie disease is an X-linked recessive disorder characterized by very early childhood blindness due to degenerative and proliferative changes of the neuroretina. Approximately 50% of patients show some form of progressive mental disorder, often with psychotic features, and about one-third of patients develop sensorineural deafness in the second decade. In addition, some patients have more complex phenotypes, including growth failure and seizures (Berger et al., 1992).
Warburg (1966) noted confusion of the terms 'pseudoglioma' and microphthalmia with Norrie disease in the literature. 'Pseudoglioma' is a nonspecific term for any condition resembling retinoblastoma and can have diverse causes, including inflammation, hemorrhage, trauma, neoplasia, or congenital malformation, and often shows unilateral involvement. Thus, 'pseudoglioma' is not an acceptable clinical or pathologic diagnosis (Duke-Elder, 1958).|OMIM|N|
C0266537|Congenital cataracts cause 10 to 30% of all blindness in children, with one-third of cases estimated to have a genetic cause (summary by Bu et al., 2002). Mutations in the HSF4 gene have been found to cause multiple types of cataract, which have been described as infantile, lamellar, zonular, nuclear, anterior polar, stellate, and Marner-type.
The preferred title for this entry was formerly 'Lamellar Cataract,' with 'Cataract, Marner Type; CAM; CTM' an included title.|OMIM|N|
C0266541|Abnormal smallness of the lens.|HPO|N|
C0266542|Spherophakia is a rare congenital condition that presents with weak zonules around a smaller and more spherical crystalline lens with an increased anteroposterior thickness of the lens, and highly myopic eye. The lens zonules are developmentally hypoplastic and abnormally weak and due to non-attachment of the posterior zonules to the equatorial zone of the lens, the lens changes its normal shape to spherical.|HPO|N|
C0266544|A congenital abnormality of the cornea in which the cornea and the anterior segment of the eye are smaller than normal. The horizontal diameter of the cornea does not reach 10 mm even in adulthood.|HPO|N|
C0266548|Axenfeld's anomaly is a bilateral disorder characterized by a prominent, anteriorly displaced Schwalbe's line (posterior embryotoxon) and peripheral iris strands which span the anterior chamber angle to attach to Schwalbe's line.|HPO|N|
C0266551|A rare, genetic, developmental defect of the eye characterized by a uni- or bilateral notch, gap, hole or fissure, typically located in the inferonasal quadrant of the eye, involving only the pigment epithelium or the iris stroma (incomplete) or involving both (complete), manifesting with iris shape anomalies (e.g. ''keyhole'' or oval pupil) and/or photophobia. Association with colobomata in other parts of the eye (incl. ciliary body, zonule, choroid, retina, optic nerve) and complex malformation syndromes (such as CHARGE syndrome) may be observed.|ORPHANET|N|
C0266568|Persistence of the hyaloid artery, which is the embryonic artery that runs from the optic disc to the posterior lens capsule may persist; the site of attachment may form an opacity. The hyaloid artery is a branch of the ophthalmic artery, and usually regresses completely before birth. This features results from a failure of regression of the hyaloid vessel, which supplies the primary vitreous during embryogenesis and normally regresses in the third trimester of pregnancy, leading to a particular form of posterior cataract.|HPO|N|
C0266572|The abnormal formation of the eyelid that is present at the time of birth.|NCI|N|
C0266573|The drooping of the upper or lower eyelid that is present at the time of birth.|NCI|N|
C0266574|Absent eyelids.|HPO|N|
C0266576|The presence of more than the normal number of eyelids.|HPO|N|
C0266579|A rare eyelid malposition disorder characterized by congenital abnormal inversion of the eyelid towards the globe, potentially causing mechanical irritation of the ocular surface by the eyelashes, which may lead to corneal abrasion and scarring with visual impairment. Typical initial symptoms are foreign body sensation, redness, tearing, and ocular discharge.|ORPHANET|N|
C0266589|An abnormality of the ear.|HPO|N|
C0266597|Absence or failure to form of the external auditory canal.|HPO|N|
C0266604|Absence of the inner ear due to a developmental defect.|HPO|N|
C0266609|Variably shaped, cartilage-containing tissue anterior to the external auditory meatus.|HPO|N|
C0266610|Small indentation anterior to the insertion of the ear.|HPO|N|
C0266611|The presence of an extra auricle on one or both sides of the head.|HPO|N|
C0266614|Anterior and inferior folding of the upper portion of the ear that obliterates triangular fossa and scapha.|HPO|N|
C0266619|A facial appearance characteristic of a fetus or neonate due to oligohydramnios experienced in the womb, comprising ocular hypertelorism, low-set ears, receding chin, and flattening of the nose.|HPO|N|
C0266623|An abnormality of the neck.|HPO|N|
C0266624|A congenital branchial sinus is a remnant of the embryonic branchial arches and their intervening clefts and pouches that has failed to regress completely. Sinuses typically have their external orifice inferior to the ramus of the mandible. They may traverse the parotid gland, and run in close vicinity to the facial nerve in the external auditory canal.|HPO|N|
C0266631|An accessory spleen is a round, iso-echogenic, homogenic and smooth structure and is seen as a normal variant mostly on the medial contour of the spleen, near the hilus or around the lower pole. This has no pathogenic relevance.|HPO|N|
C0266632|An abnormal (non-anatomic) location of the spleen.|HPO|N|
C0266636|Joining of the spleen and a gonad during embryological development.|HPO|N|
C0266642|An abnormality in which the internal thoraco-abdominal organs demonstrate abnormal arrangement across the left-right axis of the body.|HPO|N|
C0266645|A congenital condition in which there is complete right-to-left reversal of the position of the thoracic organs.|NCI|N|
C0266648|Pregnancy loss with visible gestational sac or yolk sac or both but no visible embryo on ultrasonogram.|NCI|N|
C0266667|Holoprosencephaly (HPE) is the most common structural malformation of the human forebrain and occurs after failed or abbreviated midline cleavage of the developing brain during the third and fourth weeks of gestation. HPE occurs in up to 1 in 250 gestations, but only 1 in 8,000 live births (Lacbawan et al., 2009). Classically, 3 degrees of severity defined by the extent of brain malformation have been described. In the most severe form, 'alobar HPE,' there is a single ventricle and no interhemispheric fissure. The olfactory bulbs and tracts and the corpus callosum are typically absent. In 'semilobar HPE,' the most common type of HPE in neonates who survive, there is partial cortical separation with rudimentary cerebral hemispheres and a single ventricle. In 'lobar HPE,' the ventricles are separated, but there is incomplete frontal cortical separation (Corsello et al., 1990). An additional milder form, called 'middle interhemispheric variant' (MIHV) has also been delineated, in which the posterior frontal and parietal lobes are incompletely separated and the corpus callosum may be hypoplastic (Lacbawan et al., 2009). Finally, microforms of HPE include a single maxillary median incisor or  hypotelorism without the typical brain malformations (summary by Mercier et al., 2011). Cohen (2001) discussed problems in the definition of holoprosencephaly, which can be viewed from 2 different perspectives: anatomic (fixed) and genetic (broad). When the main interest is description, the anatomic perspective is appropriate. In genetic perspective, a fixed definition of holoprosencephaly is not appropriate because the same mutational cause may result in either holoprosencephaly or some microform of holoprosencephaly. Cohen (2001) concluded that both fixed and broad definitions are equally valid and depend on context.
Munke (1989) provided an extensive review of the etiology and pathogenesis of holoprosencephaly, emphasizing heterogeneity.
See also schizencephaly (269160), which may be part of the phenotypic spectrum of HPE.
Genetic Heterogeneity of Holoprosencephaly
Several loci for holoprosencephaly have been mapped to specific chromosomal sites and the molecular defects in some cases of HPE have been identified. Holoprosencephaly-1 (HPE1) maps to chromosome 21q22. See also HPE2 (157170), caused by mutation in the SIX3 gene (603714) on 2p21; HPE3 (142945), caused by mutation in the SHH gene (600725) on 7q36; HPE4 (142946), caused by mutation in the TGIF gene (602630) on 18p11; HPE5 (609637), caused by mutation in the ZIC2 gene (603073) on 13q32; HPE6 (605934), mapped to 2q37; HPE7 (610828), caused by mutation in the PTCH1 gene (601309) on 9q22; HPE8 (609408), mapped to 14q13; HPE9 (610829), caused by mutation in the GLI2 gene (165230) on 2q14; HPE10 (612530), mapped to 1q41-q42; HPE11 (614226), caused by mutation in the CDON gene (608707) on 11q24; HPE12 (618500), caused by mutation in the CNOT1 gene (604917) on 16q21; HPE13 (301043), caused by mutation in the STAG2 gene (300826) on Xq25; and HPE14 (619895), caused by mutation in the PLCH1 gene (612835) on 3q25.
Wallis and Muenke (2000) gave an overview of mutations in holoprosencephaly. They indicated that at least 12 different loci had been associated with HPE.
Mutations in genes involved in the multiprotein cohesin complex, including STAG2, have been shown to be involved in midline brain defects such as HPE. Mutations in some of those genes cause Cornelia de Lange syndrome (CDLS; see 122470), and some patients with severe forms of CDLS may have midline brain defects. See, for example, CDLS2 (300590), CDLS3 (610759), and CDLS4 (614701).|OMIM|N|
C0266672|Congenital absence of the spinal cord and brain|SNOMEDCT_US|N|
C0266677|A congenital malformation characterized by the union or approximation of the ears in front of the neck, often accompanied by the absence or defective development of the lower jaw.|HPO|N|
C0266679|A congenital abnormality characterized by a malformation of the head. The eyes are hypoteleric and the nose may be absent or misshapen (small, flattened, single nostril) and defective.|NCI|N|
C0266680|Ethmocephaly is the rarest form of holoprosencephaly, which occurs due to an incomplete cleavage of the forebrain. Clinically, the disease presents with a proboscis, hypotelorism, microphthalmos and malformed ears.|HPO|N|
C0266682|Congenital protrusion of the abdominal or thoracic viscera, usually with a defect of the sternum and ribs as well as of the abdominal walls.|HPO|N|
C0266684|An exceptionally rare congenital abnormality in which a malformed and parasitic fetus is located within the body of its twin.|NCI|N|
C0266688|Caudal duplication (CD) is a rare developmental anomaly in which structures derived from the embryonic cloaca and notochord are duplicated to varying extents.|ORPHANET|N|
C0266717|A severe form of twin-twin transfusion syndrome that occurs in monochorionic pregnancies. The normal twin (pump twin) supplies the blood flow to its sibling that lacks heart or brain or both (acardiac/acephalic twin). Untreated, it may lead to the demise of the pump twin in some cases.|NCI|N|
C0266725|Epignathus is a teratoma originating from the upper jaw, usually connected with the sphenoid bone or hard palate.|HPO|N|
C0266731|Diprosopus is a rare, life-threatening developmental defect during embryogenesis, and a subtype of conjoined twins, characterized by partial or complete duplication of the facial structures on a single head, neck, trunk and body. It may be associated with congenital anomalies involving the cardiovascular, gastrointestinal, respiratory and central nervous systems. Cleft lip and palate have been reported in rare cases.|ORDO|N|
C0266752|A variant placenta in which the chorionic tissue is partitioned into two distinct discs, without consistent relationship to umbilical cord insertion.|NCI|N|
C0266765|Abnormal placental pentration into but not beyond the uterine wall.|HPO|N|
C0266766|Placenta percreta is a rare form of morbidly adherent placenta with penetration through the myometrium reaching serosa and even adjacent pelvic organs.|HPO|N|
C0266769|A variant placenta in which the chorionic tissue is partitioned into more than two distinct discs, without consistent relationship to umbilical cord insertion.|NCI|N|
C0266770|A placenta characterized by fetal membranes that are folded along all or part of the disc perimeter. The amnion may or may not be included in the folded tissue.|NCI|N|
C0266771|A placenta characterized by fetal membranes which extend smoothly off the disc edge, and a subamnionic fibrin ring on all or part of the disc perimeter that delimits the greatest extent of the chorionic surface vessels.|NCI|N|
C0266781|Abnormality of the amniotic fluid, which is the fluid contained in the amniotic sac surrounding the developing fetus.|HPO|N|
C0266785|An abnormality of the umbilical cord, which is the cord connecting the developing embryo or fetus to the placenta.|HPO|N|
C0266786|Decreased length of the umbilical cord.|HPO|N|
C0266788|Insertion of the umbilical cord within 2 cm from the placental edge.|HPO|N|
C0266789|Insertion of the umbilical cord into the chorio-amniotic membranes of the placenta.|HPO|N|
C0266791|A folding of the umbilical cord in the form of a knot.|NCI|N|
C0266798|A situation in utero, when there is increased pressure on the umbilical cord, which constricts blood supply to the fetus.|NCI|N|
C0266813|Blood in the feces that is not visibly apparent.|NCI|N|
C0266833|A rare hereditary myopathic degeneration of both gastrointestinal and urinary tracts that causes chronic intestinal pseudo-obstruction. It usually presents after the first decade of life with megaduodenum, megacystis and symptoms such as abdominal distension and/or pain, vomiting, constipation, diarrhea, dysphagia, and/or urinary tract infections.|SNOMEDCT_US|N|
C0266836|Paroxysms of irritability, fussing or crying that starts and stops without obvious cause in an infant up to four months of age without failure to thrive. Episodes last three or more hours per day for at least three days per week for at least on week.|NCI|N|
C0266846|A dental caries that involves the dentine.|MONDO|N|
C0266853|A dental caries that involves the enamel.|MONDO|N|
C0266909|Localized collection of pus in the tissues that enclose the root of a tooth and is associated with the presence of a sinus tract.|NCI|N|
C0266919|A non-neoplastic nodular lesion that arises from the gingiva.|NCI|N|
C0266924|Long-term inflammation of the gingiva surrounding the crown of a tooth, usually of an incompletely erupted tooth.|NCI|N|
C0266929|Chronic periodontitis, formerly called adult periodontitis, is the most frequently occurring form of periodontitis and is characterized by slowly progressing alveolar bone destruction and attachment loss. Although chronic periodontitis is most prevalent in adults and has a slow progression, it can occur in children and adolescents and may have periods of rapid progression (Armitage, 1999).|OMIM|N|
C0266981|A bony protrusion present on the midline of the hard palate.|HPO|N|
C0266995|A benign lesion that involves the salivary glands, usually the parotid gland. It affects females more often than males and it may be a manifestation of autoimmune diseases such as Sjogren syndrome. There is an increased incidence of benign lymphoepithelial lesions in HIV-positive patients. It is characterized by the presence of a marked lymphocytic infiltrate and epi-myoepithelial islands in the affected salivary gland. Patients usually present with firm and painless swelling of the affected salivary gland. There is an increased risk for development of lymphoma.|NCI|N|
C0266999|A viral disease caused by at least two distinct species (serotypes) in the VESICULOVIRUS genus: VESICULAR STOMATITIS INDIANA VIRUS and VESICULAR STOMATITIS NEW JERSEY VIRUS. It is characterized by vesicular eruptions on the ORAL MUCOSA in cattle, horses, pigs, and other animals. In humans, vesicular stomatitis causes an acute influenza-like illness.|MSH|N|
C0267008|A velvety red but not ulcerated lesion of the oral mucosa. The texture may be roughened or normal, and the lesion is neither raised nor depressed.|HPO|N|
C0267019|A lobular hemangioma arising from the oral mucosa.|NCI|N|
C0267026|Cheilitis due to chronic exposure to ultraviolet (UV) radiation. It may increase the risk for the development of invasive squamous cell carcinoma of the lip.|NCI|N|
C0267028|Painful sensation in the lip.|NCI|N|
C0267034|A rare skin disease of unknown origin characterized by macrocheilia and secretions of thick saliva from swollen labial minor salivary glands.|ORDO|N|
C0267048|Posterior displacement of the tongue into the pharynx, i.e., a tongue that is mislocalised posteriorly.|HPO|N|
C0267071|Difficulty in swallowing due to an abnormality in the mouth or throat.|NCI|N|
C0267072|Difficulty in swallowing due to an abnormality in the esophagus.|NCI|N|
C0267073|A rare aortic arch defect characterized by variable degrees of dysphagia due to compression of the esophagus from an aberrant right subclavian artery (arteria lusoria), which arises as the fourth branch, distal to the left subclavian artery, from the aortic arch. In most cases, the aberrant vessel then passes posterior to the esophagus, less frequently between the trachea and esophagus, or anterior to the trachea. Children may also present with stridor and recurrent chest infections.|ORDO|N|
C0267080|Thin (2-3mm) membranes of normal esophageal tissue consisting of mucosa and submucosa that can be congenital or acquired. Congenital webs commonly appear in the middle and inferior third of the esophagus, and they are more likely to be circumferential with a central or eccentric orifice. Acquired webs are much more common than congenital webs and typically appear in the cervical area (postcricoid). Clinical symptoms of this condition are selective (solid more than liquids) dysphagia, thoracic pain, nasopharyngeal reflux, aspiration, perforation and food impaction (the last two are very rare).|HPO|N|
C0267094|An abnormal connection between a bronchus and the esophagus.|NCI|N|
C0267095|A white patch or plaque occurring on the surface of the esophageal mucous membranes that cannot be rubbed off and cannot be characterized clinically as any other disease.|HPO|N|
C0267111|A morphologic finding indicating the presence of dysplastic changes within the gastric mucosal epithelial cells.|NCI|N|
C0267154|Infiltration of eosinophils in the stomach mucosa, that is diagnosed by an upper endoscopy and microscopy that shows more than 20 eosinophils per high-power field in association with peripheral eosinophilia and the absence of secondary cause of eosinophilia.|HPO|N|
C0267171|A rare idiopathic gastroesophageal disease characterized by delayed gastric emptying in the absence of mechanical obstruction of the gastric outlet. Patients present symptoms including nausea, vomiting, early satiety, postprandial fullness, bloating, abdominal pain and, in more severe cases, dehydration, electrolyte disturbances, weight loss and malnutrition.|ORDO|N|
C0267187|A morphologic finding indicating the replacement of part of the gastric mucosal epithelium with intestinal-type epithelium. Using immunohistochemical staining, gastric intestinal metaplasia is classified as complete or incomplete. Complete intestinal metaplasia is defined by the decreased expression of gastric mucins and expression of the intestinal mucin MUC2. Incomplete intestinal metaplasia is defined by the co-expression of both gastric mucins and MUC2.|NCI|N|
C0267211|Dilatation of the vessels in the antrum of the stomach. It is associated with portal hypertension, scleroderma, and chronic renal failure. It may cause gastric bleeding.|NCI|N|
C0267356|A rupture in the duodenal wall due to traumatic or pathologic processes.|NCI|N|
C0267358|An abnormal communication between the duodenum and another organ or cavity.|NCI|N|
C0267367|A angiodysplasia that involves the intestine.|MONDO|N|
C0267373|Bleeding from the intestines.|HPO|N|
C0267375|A chronic inflammatory disease of the large intestine (colon, cecum and rectum).|HPO|N|
C0267379|An Crohn disease involving a pathogenic inflammatory response in the jejunum.|MONDO|N|
C0267380|Chrohn''s disease affecting the ileum.|NCI|N|
C0267390|Inflammation of the rectum and the distal portion of the colon.|MONDO|N|
C0267392|A non-neoplastic polypoid lesion in the colon. It may arise in a background of inflammatory bowel disease or colitis. It is characterized by the presence of a distorted epithelium, inflammation, and fibrosis.|NCI|N|
C0267412|A clot that obstructs blood flow in a mesenteric vein (the superior and the inferior mesenteric vein drain blood from the small and large intestine).|HPO|N|
C0267448|An excess of eosinophilic cells in colonic tissue, i.e., eosinophilic infiltration in the colon.|HPO|N|
C0267462|Complete obstruction of the intestine due to the presence in the lumen of blocking material, such as tumor, fecalith, gallstone, or foreign body.|SNOMEDCT_US|N|
C0267465|Fibrosis of the wall of a segment of the intestine that leads to intestinal lumen narrowing.|NCI|N|
C0267466|A narrowing of a segment of colon whereby bowel continuity is maintained.|HPO|N|
C0267491|A circumscribed inflammatory and necrotic erosive lesion in the mucosa surface of the colon.|NCI|N|
C0267494|Interposition of a portion of the colon (e.g., sigmoid colon) between the liver and the diaphragm. It is associated with abdominal pain, vomiting, constipation, anorexia and volvulus. Chilaiditi anomaly refers to asymptomatic interposition.|MONDO|N|
C0267497|Inflammation of a congenital diverticulum of the lower intestine.|NCI|N|
C0267502|A diverticulitis that involves the small intestine.|MONDO|N|
C0267532|A colitis which can occur as a complication of ileostomy or colostomy.|MONDO|N|
C0267537|Inflammation of the cecum, usually accompanied by neutropenia.|NCI|N|
C0267539|An acute necrotizing inflammation of the CECUM occurring in neutropenic patients.|MSH|N|
C0267556|Osmotic diarrhea results from the presence of osmotically active, poorly absorbed solutes in the bowel lumen that inhibit normal water and electrolyte absorption.|HPO|N|
C0267557|Watery voluminous diarrhea resulting from an imbalance between ion and water secretion and absorption.|HPO|N|
C0267564|Infection of perianal region of skin following abrasion, which is named for the occurrence in horsemen|SNOMEDCT_US|N|
C0267567|An abscess located at the junction of the anal canal and the rectum.|HPO|N|
C0267573|A non-neoplastic or neoplastic polypoid lesion that arises from the anus. Representative examples include the fibroepithelial polyp and squamous papilloma.|NCI|N|
C0267581|Narrowing of the rectal lumen.|NCI|N|
C0267596|Bleeding originating from the rectal wall and discharged from the anus.|NCI|N|
C0267601|A focal dystonia of the pelvic floor muscles during attempted defecation.|MONDO|N|
C0267613|A non-neoplastic or neoplastic disorder that affects the appendix.|NCI|N|
C0267662|Congenital secretory chloride diarrhea is an autosomal recessive form of severe chronic diarrhea characterized by excretion of large amounts of watery stool containing high levels of chloride, resulting in dehydration, hypokalemia, and metabolic alkalosis. The electrolyte disorder resembles the renal disorder Bartter syndrome (see 607364), except that chloride diarrhea is not associated with calcium level abnormalities (summary by Choi et al., 2009).
Genetic Heterogeneity of Diarrhea
Other forms of diarrhea include DIAR2 (251850), caused by mutation in the MYO5B gene (606540) on 18q21; DIAR3 (270420), caused by mutation in the SPINT2 gene (605124) on 19q13; DIAR4 (610370), caused by mutation in the NEUROG3 gene (604882) on 10q21; DIAR5 (613217), caused by mutation in the EPCAM gene (185535) on 2p21; DIAR6 (614616), caused by mutation in the GUCY2C gene (601330) on 12p12; DIAR7 (615863) caused by mutation in the DGAT1 gene (604900) on 8q24; DIAR8 (616868), caused by mutation in the SLC9A3 gene (182307) on 5p15; DIAR9 (618168), caused by mutation in the WNT2B gene (601968) on 1p13; DIAR10 (618183), caused by mutation in the PLVAP gene (607647) on 19p13; DIAR11 (618662), caused by deletion of the intestine critical region (ICR) on chromosome 16p13, resulting in loss of expression of the flanking gene PERCC1 (618656); DIAR12 (619445), caused by mutation in the STX3 gene (600876) on 11q12; and DIAR13 (620357), caused by mutation in the ACSL5 gene (605677) on chromosome 10q25.|OMIM|N|
C0267663|A rare, genetic, non-syndromic intestinal transport defect characterized by congenital onset of severe watery diarrhea containing high concentrations of sodium, hyponatremia and metabolic acidosis.|ORDO|N|
C0267716|An abdominal hernia that occurs at a site of weakness in the abdominal wall resulting from an incompletely-healed surgical wound.|HPO|N|
C0267725|A HIATAL HERNIA in which the STOMACH herniation is located alongside the ESOPHAGUS and the ESOPHAGOGASTRIC JUNCTION is in its normal position below the DIAPHRAGM.|MSH|N|
C0267756|The presence of an abscess of the peritoneum.|HPO|N|
C0267760|An abscess that is located in any part of the tissue composing the mesentery, and that generally arises from an infection in an adjacent area of the intestine.|NCI|N|
C0267770|Sclerosing mesenteritis (SM) is a rare pathological disease causing inflammation of the adipose tissue of the small bowel mesentery and is commonly associated with abdominal pain, diarrhea, nausea, weight loss, bloating and loss of appetite. The two subforms include mesenteric panniculitis (where inflammation and fatty necrosis are dominant features) and retractile mesenteritis (where fibrosis and retraction dominate).|ORDO|N|
C0267771|A swelling or enlargment localized to the retroperitoneal region. The word mass is usually used at an early stage of the diagnostic workup before the precise nature of the swelling has been determined.|HPO|N|
C0267785|Disseminated peritoneal leiomyomatosis (DPL) is characterized by the proliferation of multiple benign smooth muscle cell-containing nodules in the peritoneal cavity.|ORDO|N|
C0267791|A varicose disease that involves the mesentery.|MONDO|N|
C0267792|A non-neoplastic or neoplastic disorder that affects the liver, bile ducts, and gallbladder. Representative examples of non-neoplastic disorders include hepatitis, cirrhosis, cholangitis, and cholecystitis. Representative examples of neoplastic disorders include hepatocellular adenoma, hepatocellular carcinoma, and cholangiocarcinoma.|NCI|N|
C0267797|Acute hepatic injury resulting from inflammation typically accompanied by increased serum alanine transaminase activity. Etiologies include viral hepatitis, drugs, toxins, and autoimmune disorders.|HPO|N|
C0267809|Cryptogenic cirrhosis is a condition that impairs liver function. People with this condition develop irreversible liver disease caused by scarring of the liver (cirrhosis), typically in mid- to late adulthood.\n\nThe liver is a part of the digestive system that helps break down food, store energy, and remove waste products, including toxins. Minor damage to the liver can be repaired by the body. However, severe or long-term damage can lead to the replacement of normal liver tissue with scar tissue.\n\nIn the early stages of cryptogenic cirrhosis, people often have no symptoms because the liver has enough normal tissue to function. Signs and symptoms become apparent as more of the liver is replaced by scar tissue. Affected individuals can experience fatigue, weakness, loss of appetite, weight loss, nausea, swelling (edema), enlarged blood vessels, and yellowing of the skin and whites of the eyes (jaundice).\n\nPeople with cryptogenic cirrhosis may develop high blood pressure in the vein that supplies blood to the liver (portal hypertension). Cryptogenic cirrhosis can lead to type 2 diabetes, although the mechanism is unclear. Some people with cryptogenic cirrhosis develop cancer of the liver (hepatocellular cancer).|MedlinePlus Genetics|N|
C0267812|A type of cirrhosis characterized by the presence of small regenerative nodules.|HPO|N|
C0267818|Proliferative changes of the bile ducts.|HPO|N|
C0267830|Single or multiple areas of PUS due to bacterial infection within the hepatic parenchyma. It can be caused by a variety of BACTERIA, local or disseminated from infections elsewhere such as in APPENDICITIS; CHOLECYSTITIS; PERITONITIS; and after LIVER TRANSPLANTATION.|MSH|N|
C0267834|A cystic lesion located in the liver.|NCI|N|
C0267839|A form of amyloidosis that affects the liver.|HPO|N|
C0267841|Inflammation of the gallbladder in the absence of gallstones.|NCI|N|
C0267842|Acute inflammation of the gallbladder in the absence of gallstones|NCI|N|
C0267853|An acute or chronic inflammation of the gallbladder associated with the presence of gallstones.|NCI|N|
C0267863|A concretion in the cystic duct.|NCI|N|
C0267878|A rare biliary tract disease characterized by external compression and subsequent obstruction of an extrahepatic biliary duct by one or more gallstones in the cystic duct or the gallbladder. Patients may present with acute or chronic cholecystitis with right upper abdominal pain, nausea, and vomiting, jaundice, or cholangitis. Cholecystobiliary or -enteric fistulae can arise due to chronic inflammation and ulceration.|ORDO|N|
C0267892|An abnormality characterized by macroscopic or microscopic outpouchings of gallbladder mucosa into the muscle of the gallbladder wall. It may be associated with cholecystitis or gallstones.|MONDO|N|
C0267896|The enlargement of the gallbladder secondary to prolonged obstruction of the cystic duct.|NCI|N|
C0267917|Cholangitis that is both sudden in onset and of a relatively short duration.|NCI|N|
C0267918|Cholangitis that is persistent and long-standing.|NCI|N|
C0267920|A recurrent form of cholangitis that is characterized by intrabiliary pigment stone formation, biliary tree stricture and obstruction, and recurrent bouts of cholangitis. There is an association with biliary parasitosis, but evidence supporting these infections in the pathogenesis of recurrent pyogenic cholangitis is inconclusive. The most common causes of death are sepsis, liver failure, or complications from cirrhosis. Patients are also at increased risk of cholangiocarcinoma.|NCI|N|
C0267924|Cholangitis characterized by the presence of numerous polymorphonuclear cells around and within the wall as well as within the lumen of the ducts. This may involve ducts of any size and is occasionally associated with abscess formation (cholangitic abscess).|HPO|N|
C0267925|Narrowing or stricture of the bile duct.|NCI|N|
C0267937|Two or more episodes of acute pancreatitis, with complete resolution of symptoms between episodes.|NCI|N|
C0267940|An acute pancreatits that is characterized by acute inflammation of the pancreas in which the initial edematous pancreatitis evolved into necrosis accompanied by hemorrhage.|MONDO|N|
C0267941|An acute pancreatitis that is characterized by one or more areas of necrosis in the pancreas with varying degree of involvement of the surrounding tissues or organ systems.|MONDO|N|
C0267953|A necrotic process affecting the pancreas.|NCI|N|
C0267963|Impaired function of the exocrine pancreas associated with a reduced ability to digest foods because of lack of digestive enzymes.|HPO|N|
C0267988|An increased concentration of proteins in the blood.|HPO|N|
C0268030|An abnormally low blood pH (usually defined as less than 7.35).|HPO|N|
C0268039|An acute disease characterized by severe ketoacidosis in the absence of diabetes mellitus and occuring in individuals with a history of prolonged excessive alcohol consumption. Disease manifestations include nausea, intractable vomiting, and abdominal pain. When treated, AKA resolves rapidly and completely with no apparent sequelae.|MONDO|N|
C0268047|Sudden onset of impairment in ventilation such that the removal of carbon dioxide by the respiratory system is less than the production of carbon dioxide in the tissues, leading to an elevation of the partial pressure of carbon dioxide (PaCO2) above the normal limits (more than 45 mm Hg) with an accompanying acidemia (pH less than 7.35).|HPO|N|
C0268048|Longstanding impairment in ventilation such that the partial pressure of carbon dioxide (PaCO2) is elevated above the upper limit of the reference range (more than 45 mm Hg), with a normal or near-normal pH secondary to renal compensation and an elevated serum bicarbonate levels (more than30 mEq/L).|HPO|N|
C0268059|Neonatal hemochromatosis (NH) is characterized by hepatic failure in the newborn period and heavy iron staining in the liver. In addition, there is marked siderosis of extrahepatic tissues, including the heart and pancreas (Driscoll et al., 1988).
Whitington (2007) postulated that some cases of neonatal hemochromatosis result from maternal alloimmunity directed at the fetal liver, and therefore do not represent an inherited mendelian disorder. Other causes may result from metabolic disease or perinatal infection. In particular, he commented that the disorder is not related to the family of inherited liver diseases that fall under the classification of hereditary hemochromatosis (see, e.g., 235200). Whitington (2007) proposed the term 'congenital alloimmune hepatitis.'
In the past, the disorder has loosely been labeled 'neonatal hepatitis' and 'giant cell hepatitis,' which are pathologic findings in the liver representing a common response to a variety of insults, including cholestatic disorders and infection, among others (Fawaz et al., 1975; Knisely et al., 1987; Kelly et al., 2001).|OMIM|N|
C0268060|Juvenile hemochromatosis is characterized by onset of severe iron overload occurring typically in the first to third decades of life. Males and females are equally affected. Prominent clinical features include hypogonadotropic hypogonadism, cardiomyopathy, glucose intolerance and diabetes, arthropathy, and liver fibrosis or cirrhosis. Hepatocellular cancer has been reported occasionally. The main cause of death is cardiac disease. If juvenile hemochromatosis is detected early enough and if blood is removed regularly through the process of phlebotomy to achieve iron depletion, morbidity and mortality are greatly reduced.|GeneReviews|N|
C0268063|African iron overload is a distinct iron-loading disorder prevalent in Africa. Formerly termed Bantu siderosis, the disorder results from a predisposition to iron loading that is exacerbated by excessive intake of dietary iron. It is particularly a problem among Africans who drink a traditional beer brewed in non-galvanized steel drums. Although the disorder was once attributed to dietary excess alone, serious iron overload does not develop in all beer drinkers, and not all patients with iron overload consume excessive amounts of the beer (summary by Andrews, 1999).|OMIM|N|
C0268064|Accumulation of iron in internal organs that results from repeated blood transfusions.|NCI|N|
C0268070|A reduced concentration of copper in the blood.|HPO|N|
C0268077|An abnormally decreased phosphate concentration in the urine.|HPO|N|
C0268079|An increased excretion of phosphates in the urine.|HPO|N|
C0268095|A congestive cardiomyopathy caused by a combination of dietary deficiency of selenium and the presence of a mutated strain of Coxsackievirus.|MONDO|N|
C0268104|A disease that has its basis in the disruption of purine nucleobase metabolic process.|MONDO|N|
C0268117|HPRT1 disorders, caused by deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HGprt), are typically associated with clinical evidence for overproduction of uric acid (hyperuricemia, nephrolithiasis, and/or gouty arthritis) and varying degrees of neurologic and/or behavioral problems. Historically, three phenotypes were identified in the spectrum of HPRT1 disorders: Lesch-Nyhan disease (LND) at the most severe end with motor dysfunction resembling severe cerebral palsy, intellectual disability, and self-injurious behavior; HPRT1-related neurologic dysfunction (HND) in the intermediate range with similar but fewer severe neurologic findings than LND and no self-injurious behavior; and HPRT1-related hyperuricemia (HRH) at the mild end without overt neurologic deficits. It is now recognized that these neurobehavioral phenotypes cluster along a continuum from severe to mild.|GeneReviews|N|
C0268118|Xanthinuria, which was first described by Dent and Philpot (1954), is characterized by excretion of large amounts of xanthine in the urine and a tendency to form xanthine stones. Uric acid is strikingly diminished in serum and urine. Two clinically similar but distinct forms of xanthinuria are recognized. In type I (XAN1) there is an isolated deficiency of xanthine dehydrogenase, and in type II (XAN2; 603592) there is a dual deficiency of xanthine dehydrogenase and aldehyde oxidase (603592). Type I patients can metabolize allopurinol, whereas type II patients cannot (Simmonds et al., 1995). Xanthinuria also occurs in molybdenum cofactor deficiency (252150).
Type II xanthinuria is caused by mutation in the MOCOS gene (613274), which encodes the enzyme that sulfurates the molybdenum cofactor for XDH and AOX1 (602841).|OMIM|N|
C0268119|Molybdenum cofactor deficiency (MoCD) represents a spectrum, with some individuals experiencing significant signs and symptoms in the neonatal period and early infancy (termed early-onset or severe MoCD) and others developing signs and symptoms in childhood or adulthood (termed late-onset or mild MoCD). Individuals with early-onset MoCD typically present in the first days of life with severe encephalopathy, including refractory seizures, opisthotonos, axial and appendicular hypotonia, feeding difficulties, and apnea. Head imaging may demonstrate loss of gray and white matter differentiation, gyral swelling, sulci injury (typically assessed by evaluating the depth of focal lesional injury within the sulci), diffusely elevated T2-weighted signal, and panlobar diffusion restriction throughout the forebrain and midbrain with relative sparring of the brain stem. Prognosis for early-onset MoCD is poor, with about 75% succumbing in infancy to secondary complications of their neurologic disability (i.e., pneumonia). Late-onset MoCD is typically characterized by milder symptoms, such as acute neurologic decompensation in the setting of infection. Episodes vary in nature but commonly consist of altered mental status, dystonia, choreoathetosis, ataxia, nystagmus, and fluctuating hypotonia and hypertonia. These features may improve after resolution of the inciting infection or progress in a gradual or stochastic manner over the lifetime. Brain imaging may be normal or may demonstrate T2-weighted hyperintense or cystic lesions in the globus pallidus, thinning of the corpus callosum, and cerebellar atrophy.|GeneReviews|N|
C0268120|Adenine phosphoribosyltransferase (APRT) deficiency is characterized by excessive production and renal excretion of 2,8-dihydroxyadenine (DHA), which leads to kidney stone formation and crystal-induced kidney damage (i.e., DHA crystal nephropathy) causing acute kidney injury episodes and progressive chronic kidney disease (CKD). Kidney stones, the most common clinical manifestation of APRT deficiency, can occur at any age; in at least 50% of affected persons symptoms do not occur until adulthood. If adequate treatment is not provided, approximately 20%-25% of affected individuals develop end-stage renal disease (ESRD), usually in adult life.|GeneReviews|N|
C0268124|An autosomal recessive deficiency of the purine salvage enzyme adenosine deaminase which results in Severe Combined Immunodeficiency Disease (SCID). The most common form of SCID, accounting for about 50% of autosomal recessive cases. The first disease for which gene therapy was applied.|NCI|N|
C0268125|Purine nucleoside phosphorylase deficiency is a rare autosomal recessive immunodeficiency disorder characterized mainly by decreased T-cell function. Some patients also have neurologic impairment (review by Aust et al., 1992).|OMIM|N|
C0268126|Adenylosuccinase deficiency is an autosomal recessive inborn error of metabolism caused by an enzymatic defect in de novo purine synthesis (DNPS) pathway. ADSL deficiency leads to the accumulation of toxic intermediates, including succinyladenosine (S-Ado) and succinylaminoimidazole carboxamide riboside (SAICAr) in body fluids. There are 3 major phenotypic forms of the disorder that correlate with different values of the S-Ado and SAICAr concentration ratios (S-Ado/SAICAr) in the cerebrospinal fluid. These include the most severe fatal neonatal encephalopathy (S-Ado/SAICAr ratio less than 1); childhood form (type I) with severe psychomotor retardation (S-Ado/SAICAr ratio close to 1), and a milder form (type II) with psychomotor retardation or hypotonia (S-Ado/SAICAr ratio greater than 2) (summary by Baresova et al., 2012).|OMIM|N|
C0268127|ANPM|MONDO|N|
C0268128|Orotic aciduria is a rare autosomal recessive disorder characterized by megaloblastic anemia and orotic acid crystalluria that is frequently associated with some degree of physical and mental retardation. These features respond to appropriate pyrimidine replacement therapy, and most cases appear to have a good prognosis. A minority of cases have additional features, particularly congenital malformations and immune deficiencies, which may adversely affect this prognosis (summary by Webster et al., 2001).
Bailey (2009) stated that only 2 cases of orotic aciduria without megaloblastic anemia (OAWA) had been reported.|OMIM|N|
C0268134|A disease that has its basis in the disruption of DNA repair.|MONDO|N|
C0268135|Xeroderma pigmentosum (XP) is characterized by: Acute sun sensitivity (severe sunburn with blistering, persistent erythema on minimal sun exposure) with marked freckle-like pigmentation of the face before age two years; Sunlight-induced ocular involvement (photophobia, severe keratitis, atrophy of the skin of the lids, ocular surface neoplasms); Greatly increased risk of sunlight-induced cutaneous neoplasms (basal cell carcinoma, squamous cell carcinoma, melanoma) within the first decade of life. Approximately 25% of affected individuals have neurologic manifestations (acquired microcephaly, diminished or absent deep tendon stretch reflexes, progressive sensorineural hearing loss, progressive cognitive impairment, and ataxia). The most common causes of death are skin cancer, neurologic degeneration, and internal cancer. The median age at death in persons with XP with neurodegeneration (29 years) was found to be younger than that in persons with XP without neurodegeneration (37 years).|GeneReviews|N|
C0268136|Xeroderma pigmentosum (XP) is characterized by: Acute sun sensitivity (severe sunburn with blistering, persistent erythema on minimal sun exposure) with marked freckle-like pigmentation of the face before age two years; Sunlight-induced ocular involvement (photophobia, severe keratitis, atrophy of the skin of the lids, ocular surface neoplasms); Greatly increased risk of sunlight-induced cutaneous neoplasms (basal cell carcinoma, squamous cell carcinoma, melanoma) within the first decade of life. Approximately 25% of affected individuals have neurologic manifestations (acquired microcephaly, diminished or absent deep tendon stretch reflexes, progressive sensorineural hearing loss, progressive cognitive impairment, and ataxia). The most common causes of death are skin cancer, neurologic degeneration, and internal cancer. The median age at death in persons with XP with neurodegeneration (29 years) was found to be younger than that in persons with XP without neurodegeneration (37 years).|GeneReviews|N|
C0268138|Xeroderma pigmentosum (XP) is characterized by: Acute sun sensitivity (severe sunburn with blistering, persistent erythema on minimal sun exposure) with marked freckle-like pigmentation of the face before age two years; Sunlight-induced ocular involvement (photophobia, severe keratitis, atrophy of the skin of the lids, ocular surface neoplasms); Greatly increased risk of sunlight-induced cutaneous neoplasms (basal cell carcinoma, squamous cell carcinoma, melanoma) within the first decade of life. Approximately 25% of affected individuals have neurologic manifestations (acquired microcephaly, diminished or absent deep tendon stretch reflexes, progressive sensorineural hearing loss, progressive cognitive impairment, and ataxia). The most common causes of death are skin cancer, neurologic degeneration, and internal cancer. The median age at death in persons with XP with neurodegeneration (29 years) was found to be younger than that in persons with XP without neurodegeneration (37 years).|GeneReviews|N|
C0268140|Xeroderma pigmentosum (XP) is characterized by: Acute sun sensitivity (severe sunburn with blistering, persistent erythema on minimal sun exposure) with marked freckle-like pigmentation of the face before age two years; Sunlight-induced ocular involvement (photophobia, severe keratitis, atrophy of the skin of the lids, ocular surface neoplasms); Greatly increased risk of sunlight-induced cutaneous neoplasms (basal cell carcinoma, squamous cell carcinoma, melanoma) within the first decade of life. Approximately 25% of affected individuals have neurologic manifestations (acquired microcephaly, diminished or absent deep tendon stretch reflexes, progressive sensorineural hearing loss, progressive cognitive impairment, and ataxia). The most common causes of death are skin cancer, neurologic degeneration, and internal cancer. The median age at death in persons with XP with neurodegeneration (29 years) was found to be younger than that in persons with XP without neurodegeneration (37 years).|GeneReviews|N|
C0268141|Xeroderma pigmentosum (XP) is characterized by: Acute sun sensitivity (severe sunburn with blistering, persistent erythema on minimal sun exposure) with marked freckle-like pigmentation of the face before age two years; Sunlight-induced ocular involvement (photophobia, severe keratitis, atrophy of the skin of the lids, ocular surface neoplasms); Greatly increased risk of sunlight-induced cutaneous neoplasms (basal cell carcinoma, squamous cell carcinoma, melanoma) within the first decade of life. Approximately 25% of affected individuals have neurologic manifestations (acquired microcephaly, diminished or absent deep tendon stretch reflexes, progressive sensorineural hearing loss, progressive cognitive impairment, and ataxia). The most common causes of death are skin cancer, neurologic degeneration, and internal cancer. The median age at death in persons with XP with neurodegeneration (29 years) was found to be younger than that in persons with XP without neurodegeneration (37 years).|GeneReviews|N|
C0268146|Glycogen storage disease type I (GSDI) is characterized by accumulation of glycogen and fat in the liver and kidneys resulting in hepatomegaly and nephromegaly. Severely affected infants present in the neonatal period with severe hypoglycemia due to fasting intolerance. More commonly, untreated infants present at age three to four months with hepatomegaly, severe hypoglycemia with or without seizures, lactic acidosis, hyperuricemia, and hypertriglyceridemia. Affected children typically have doll-like faces with full cheeks, relatively thin extremities, short stature, and a protuberant abdomen. Xanthoma and diarrhea may be present. Impaired platelet function and development of reduced or dysfunctional von Willebrand factor can lead to a bleeding tendency with frequent epistaxis and menorrhagia in females. Individuals with untreated GSDIb are more likely to develop impaired neutrophil and monocyte function as well as chronic neutropenia resulting in recurrent bacterial infections, gingivitis, periodontitis, and genital and intestinal ulcers. Long-term complications of untreated GSDI include short stature, osteoporosis, delayed puberty, renal disease (including proximal and distal renal tubular acidosis, renal stones, and renal failure), gout, systemic hypertension, pulmonary hypertension, hepatic adenomas with potential for malignancy, pancreatitis, and polycystic ovaries. Seizures and cognitive impairment may occur in individuals with prolonged periods of hypoglycemia. Normal growth and puberty are expected in treated children. Most affected individuals live into adulthood.|GeneReviews|N|
C0268147|Phosphorylase kinase (PhK) deficiency causing glycogen storage disease type IX (GSD IX) results from deficiency of the enzyme phosphorylase b kinase, which has a major regulatory role in the breakdown of glycogen. The two types of PhK deficiency are liver PhK deficiency (characterized by early childhood onset of hepatomegaly and growth restriction, and often, but not always, fasting ketosis and hypoglycemia) and muscle PhK deficiency, which is considerably rarer (characterized by any of the following: exercise intolerance, myalgia, muscle cramps, myoglobinuria, and progressive muscle weakness). While symptoms and biochemical abnormalities of liver PhK deficiency were thought to improve with age, it is becoming evident that affected individuals need to be monitored for long-term complications such as liver fibrosis and cirrhosis.|GeneReviews|N|
C0268149|Phosphoglycerate mutase deficiency is a disorder that primarily affects muscles used for movement (skeletal muscles). Beginning in childhood or adolescence, affected individuals experience muscle aches or cramping following strenuous physical activity. Some people with this condition also have recurrent episodes of myoglobinuria. Myoglobinuria occurs when muscle tissue breaks down abnormally and releases a protein called myoglobin, which is processed by the kidneys and released in the urine. If untreated, myoglobinuria can lead to kidney failure.\n\nIn some cases of phosphoglycerate mutase deficiency, microscopic tube-shaped structures called tubular aggregates are seen in muscle fibers. It is unclear how tubular aggregates are associated with the signs and symptoms of the disorder.|MedlinePlus Genetics|N|
C0268151|The term "galactosemia" refers to disorders of galactose metabolism that include classic galactosemia, clinical variant galactosemia, and biochemical variant galactosemia (not covered in this chapter). This GeneReview focuses on: Classic galactosemia, which can result in life-threatening complications including feeding problems, failure to thrive, hepatocellular damage, bleeding, and E coli sepsis in untreated infants. If a lactose-restricted diet is provided during the first ten days of life, the neonatal signs usually quickly resolve and the complications of liver failure, sepsis, and neonatal death are prevented; however, despite adequate treatment from an early age, children with classic galactosemia remain at increased risk for developmental delays, speech problems (termed childhood apraxia of speech and dysarthria), and abnormalities of motor function. Almost all females with classic galactosemia manifest hypergonadatropic hypogonadism or premature ovarian insufficiency (POI). Clinical variant galactosemia, which can result in life-threatening complications including feeding problems, failure to thrive, hepatocellular damage including cirrhosis, and bleeding in untreated infants. This is exemplified by the disease that occurs in African Americans and native Africans in South Africa. Persons with clinical variant galactosemia may be missed with newborn screening as the hypergalactosemia is not as marked as in classic galactosemia and breath testing is normal. If a lactose-restricted diet is provided during the first ten days of life, the severe acute neonatal complications are usually prevented. African Americans with clinical variant galactosemia and adequate early treatment do not appear to be at risk for long-term complications, including POI.|GeneReviews|N|
C0268152|Infants with Duarte variant galactosemia who receive breast milk or a high galactose-containing formula (dairy milk-based formula) are typically asymptomatic and show the same prevalence of acute issues seen in the general newborn population. For decades it has been unclear whether Duarte variant galactosemia results in long-term developmental problems either with or without dietary intervention. However, a recent study of 350 children ages six to 12 years reported no detectable differences in developmental outcomes tested between children with Duarte variant galactosemia and controls, or among children with Duarte variant galactosemia as a function of galactose exposure in infancy. Premature ovarian insufficiency, which is common in classic galactosemia, also has not been reported for girls or women with Duarte variant galactosemia.|GeneReviews|N|
C0268155|Galactosemia II (GALAC2), or galactokinase deficiency, is an autosomal recessive disorder that causes cataract formation in children not maintained on a lactose-free diet. Cataract formation is the result of osmotic phenomena caused by the accumulation of galactitol in the lens (Asada et al., 1999).
For a discussion of genetic heterogeneity of galactosemia, see GALAC1 (230400).|OMIM|N|
C0268157|Elevated concentration of galactose in the urine.|HPO|N|
C0268160|Essential fructosuria is a benign, asymptomatic defect of intermediary metabolism characterized by the intermittent appearance of fructose in the urine (summary by Bonthron et al., 1994).|OMIM|N|
C0268162|Essential pentosuria is an inborn error of metabolism in which 1 to 4 gm of the pentose L-xylulose is excreted in the urine each day. It is a benign condition that occurs principally in individuals of Ashkenazi Jewish descent (summary by Hiatt, 2001).|OMIM|N|
C0268164|Primary hyperoxaluria type 1 (PH1) is caused by a deficiency of the liver peroxisomal enzyme alanine:glyoxylate-aminotransferase (AGT), which catalyzes the conversion of glyoxylate to glycine. When AGT activity is absent, glyoxylate is converted to oxalate, which forms insoluble calcium oxalate crystals that accumulate in the kidney and other organs. Individuals with PH1 are at risk for recurrent nephrolithiasis (deposition of calcium oxalate in the renal pelvis / urinary tract), nephrocalcinosis (deposition of calcium oxalate in the renal parenchyma), or end-stage renal disease (ESRD). Age at onset of symptoms ranges from infancy to the sixth decade. Approximately 10% of affected individuals present in infancy or early childhood with nephrocalcinosis, with or without nephrolithiasis, and failure to thrive related to renal failure. The majority of individuals with PH1 present in childhood or early adolescence, usually with symptomatic nephrolithiasis and normal or reduced kidney function. The remainder of affected individuals present in adulthood with recurrent renal stones and a mild-to-moderate reduction in kidney function. The natural history of untreated PH1 is one of progressive decline in renal function as a result of calcium oxalate deposits in kidney tissue and complications of nephrolithiasis (e.g., obstruction and infection) with eventual progression to oxalosis (widespread tissue deposition of calcium oxalate) and death from ESRD and/or complications of oxalosis.|GeneReviews|N|
C0268165|Primary hyperoxaluria type 2 (PH2), caused by deficiency of the enzyme glyoxylate reductase/hydroxypyruvate reductase (GR/HPR), is characterized by recurrent nephrolithiasis (deposition of calcium oxalate in the renal pelvis/urinary tract), nephrocalcinosis (deposition of calcium oxalate in the renal parenchyma), and end-stage renal disease (ESRD). After ESRD, oxalosis (widespread tissue deposition of calcium oxalate) usually develops. Symptom onset is typically in childhood.|GeneReviews|N|
C0268167|Excessive urinary oxalate excretion resulting from increased absorption of oxalate.|NCI|N|
C0268173|A disease that has its basis in the disruption of carbohydrate transport.|MONDO|N|
C0268179|Congenital lactase deficiency is a severe gastrointestinal disorder characterized by watery diarrhea in infants fed with breast milk or other lactose-containing formulas.|OMIM|N|
C0268180|A very rare disorder which is probably hereditary. It is not caused by a disorder of disaccharidease activity or by impairment of monosaccharide transport but rather by abnormal permeability of lactose through the gastric mucosa.|SNOMEDCT_US|N|
C0268181|In humans, the activities of lactase and most of the other digestive hydrolases are maximal at birth. The majority of the world's human population experiences a decline in production of the digestive enzyme lactase-phlorizin hydrolase during maturation, with the age of onset ranging from the toddler years to young adulthood. Due to the reduced lactase level, lactose present in dairy products cannot be digested in the small intestine and instead is fermented by bacteria in the distal ileum and colon. The fermentative products result in symptoms of diarrhea, gas bloat, flatulence, and abdominal pain. However, in a minority of adults, high levels of lactase activity persist in adulthood. Lactase persistence is a heritable autosomal dominant condition that results in a sustained ability to digest the milk sugar lactose throughout adulthood (Olds and Sibley, 2003).|OMIM|N|
C0268186|Glucose/galactose malabsorption (GGM) is a rare autosomal recessive disorder caused by a defect in glucose and galactose transport across the intestinal brush border. Patients with GGM present with neonatal onset of severe life-threatening watery diarrhea and dehydration. If diagnosed and treated properly, patients can fully recover and show normal growth and development (summary by Xin and Wang, 2011).|OMIM|N|
C0268187|Trehalose is a disaccharide found in mushrooms, algae, and insect hemolymph; mushrooms and products containing baker's yeast are thus the only sources of trehalose in the human diet. The high concentration of trehalose in cryptobiotic plants is responsible for their remarkable ability to go through cycles of desiccation and rehydration without injury. This led to interest by the food industry in the addition of trehalose to foodstuffs to improve the longevity and quality of dried food. However, ingestion of a disaccharide in an individual who cannot digest it results in osmotic diarrhea, abdominal pain, and increased rectal flatulence (summary by Murray et al., 2000). Isolated trehalose intolerance due to deficiency of trehalase (TREH; 275360) is probably rare in adult white Americans (Welsh et al., 1978), but has been estimated at 8% in Greenlanders (Gudmand-Hoyer et al., 1988).|OMIM|N|
C0268192|An inherited metabolic disease that is has its basis in the disruption of pyruvate metabolic process.|MONDO|N|
C0268193|Methemoglobinemia due to NADH-cytochrome b5 reductase deficiency is an autosomal recessive disorder characterized clinically by decreased oxygen carrying capacity of the blood, with resultant cyanosis and hypoxia (review by Percy and Lappin, 2008).
There are 2 types of methemoglobin reductase deficiency. In type I, the defect affects the soluble form of the enzyme, is restricted to red blood cells, and causes well-tolerated methemoglobinemia. In type II, the defect affects both the soluble and microsomal forms of the enzyme and is thus generalized, affecting red cells, leukocytes, and all body tissues. Type II methemoglobinemia is associated with mental deficiency and other neurologic symptoms. The neurologic symptoms may be related to the major role played by the cytochrome b5 system in the desaturation of fatty acids (Vives-Corrons et al., 1978; Kaplan et al., 1979).|OMIM|N|
C0268194|A rare gluconeogenesis disorder that results from impairment in the enzyme phosphoenolpyruvate carboxykinase, and comprised of cytosolic and mitochondrial forms of enzyme deficiency. Onset of symptoms is neonatal or a few months after birth and includes hypoglycemia associated with acute episodes of severe lactic acidosis, progressive neurological deterioration, severe liver failure, renal tubular acidosis and Fanconi syndrome. Patients also present progressive multisystem damage with failure to thrive, muscular weakness and hypotonia, developmental delay with seizures, spasticity, lethargy, microcephaly and cardiomyopathy. To date, there is no conclusive evidence of the existence of an isolated form of this disorder.|ORDO|N|
C0268197|inherited diseases characterized by the presence of abnormally low levels of lipoproteins in the blood.|CSP|N|
C0268225|Aspartylglucosaminuria (AGU) is a severe autosomal recessive lysosomal storage disorder that involves the central nervous system and causes skeletal abnormalities as well as connective tissue lesions. The most characteristic feature is progressive mental retardation. The disorder is caused by deficient activity of the lysosomal enzyme glycosylasparaginase, which results in body fluid and tissue accumulation of a series of glycoasparagines, i.e., glycoconjugates with an aspartylglucosamine moiety at the reducing end. AGU belongs to the group of disorders commonly referred to as the Finnish disease heritage (summary by Mononen et al., 1993 and Arvio and Arvio, 2002).|OMIM|N|
C0268226|A lysosomal storage disease, belonging to the group of oligosaccharidosis or with a wide clinical spectrum that is divided into two main clinical subtypes: sialidosis type I, the milder, non dysmorphic form of the disease with characteristics of gait abnormalities, progressive visual loss, bilateral macular cherry red spots and myoclonus, that presents in adolescence or adulthood (second or third decade of life); and sialidosis type II (see this term) the more severe, early onset form, with characteristics of progressive and severe mucopolysaccharidosis-like phenotype with coarse facies, visceromegaly, dysostosis multiplex, and developmental delay. Bilateral macular cherry red spots are also present. Sialidosis type II has been further divided into congenital (with hydrops fetalis), infantile and juvenile presentations.|SNOMEDCT_US|N|
C0268233|Galactosialidosis (GSL) is a lysosomal storage disease associated with a combined deficiency of beta-galactosidase (611458) and neuraminidase (608272), secondary to a defect in protective protein/cathepsin A (PPCA). All patients have clinical manifestations typical of a lysosomal disorder, such as coarse facies, cherry red spots, vertebral changes, foam cells in the bone marrow, and vacuolated lymphocytes. Three phenotypic subtypes are recognized. The early infantile form is associated with fetal hydrops, edema, ascites, visceromegaly, skeletal dysplasia, and early death. The late infantile type is characterized by hepatosplenomegaly, growth retardation, cardiac involvement, and rare occurrence of neurologic signs. The juvenile/adult form is characterized by myoclonus, ataxia, angiokeratoma, mental retardation, neurologic deterioration, absence of visceromegaly, and long survival. The majority of reported patients belong to the juvenile/adult group and are mainly of Japanese origin (summary by d'Azzo et al., 2001).|OMIM|N|
C0268237|A very rare inherited metabolic disorder characterized by deficiency of the enzyme cytochrome-C oxidase. It may be manifested as an isolated myopathy or a systemic disorder. Signs and symptoms include myotonia, dysfunction of the heart, kidney, and brain, and lactic acidosis.|NCI|N|
C0268238|Chanarin-Dorfman syndrome (CDS) is a rare autosomal recessive nonlysosomal inborn error of neutral lipid metabolism. Patients present with an nonbullous erythrodermic form of ichthyosis, with variable involvement of other organs, such as liver, central nervous system, eyes, and ears. Intracellular triacylglycerol droplets are present in most tissues, and diagnosis can be confirmed by a simple blood smear, in which the characteristic lipid droplets are observed in the cytoplasm of granulocytes (summary by Lefevre et al., 2001).|OMIM|N|
C0268241|A rare disorder of lipid metabolism characterized by childhood onset of steatorrhea due to isolated pancreatic colipase deficiency, while other exocrine pancreatic enzymes are normal. Early formation of gallstones, as well as vitamin B12 deficiency with megaloblastic anemia have also been reported. There have been no further descriptions in the literature since 1982.|ORDO|N|
C0268242|The phenotype of acid sphingomyelinase deficiency (ASMD) occurs along a continuum. Individuals with the severe early-onset form, infantile neurovisceral ASMD, were historically diagnosed with Niemann-Pick disease type A (NPD-A). The later-onset, chronic visceral form of ASMD is also referred to as Niemann-Pick disease type B (NPD-B). A phenotype with intermediate severity is also known as chronic neurovisceral ASMD (NPD-A/B). The most common presenting symptom in NPD-A is hepatosplenomegaly, usually detectable by age three months; over time the liver and spleen become massive in size. Psychomotor development progresses no further than the 12-month level, after which neurologic deterioration is relentless. Failure to thrive typically becomes evident by the second year of life. A classic cherry-red spot of the macula of the retina, which may not be present in the first few months, is eventually present in all affected children. Interstitial lung disease caused by storage of sphingomyelin in pulmonary macrophages results in frequent respiratory infections and often respiratory failure. Most children succumb before the third year of life. NPD-B generally presents later than NPD-A, and the manifestations are less severe. NPD-B is characterized by progressive hepatosplenomegaly, gradual deterioration in liver and pulmonary function, osteopenia, and atherogenic lipid profile. No central nervous system (CNS) manifestations occur. Individuals with NPD-A/B have symptoms that are intermediate between NPD-A and NPD-B. The presentation in individuals with NPD-A/B varies greatly, although all are characterized by the presence of some CNS manifestations. Survival to adulthood can occur in individuals with NPD-B and NPD-A/B.|GeneReviews|N|
C0268243|The phenotype of acid sphingomyelinase deficiency (ASMD) occurs along a continuum. Individuals with the severe early-onset form, infantile neurovisceral ASMD, were historically diagnosed with Niemann-Pick disease type A (NPD-A). The later-onset, chronic visceral form of ASMD is also referred to as Niemann-Pick disease type B (NPD-B). A phenotype with intermediate severity is also known as chronic neurovisceral ASMD (NPD-A/B). The most common presenting symptom in NPD-A is hepatosplenomegaly, usually detectable by age three months; over time the liver and spleen become massive in size. Psychomotor development progresses no further than the 12-month level, after which neurologic deterioration is relentless. Failure to thrive typically becomes evident by the second year of life. A classic cherry-red spot of the macula of the retina, which may not be present in the first few months, is eventually present in all affected children. Interstitial lung disease caused by storage of sphingomyelin in pulmonary macrophages results in frequent respiratory infections and often respiratory failure. Most children succumb before the third year of life. NPD-B generally presents later than NPD-A, and the manifestations are less severe. NPD-B is characterized by progressive hepatosplenomegaly, gradual deterioration in liver and pulmonary function, osteopenia, and atherogenic lipid profile. No central nervous system (CNS) manifestations occur. Individuals with NPD-A/B have symptoms that are intermediate between NPD-A and NPD-B. The presentation in individuals with NPD-A/B varies greatly, although all are characterized by the presence of some CNS manifestations. Survival to adulthood can occur in individuals with NPD-B and NPD-A/B.|GeneReviews|N|
C0268247|Niemann-Pick disease is a condition that affects many body systems. It has a wide range of symptoms that vary in severity. Niemann-Pick disease is divided into four main types: type A, type B, type C1, and type C2. These types are classified on the basis of genetic cause and the signs and symptoms of the condition.\n\nInfants with Niemann-Pick disease type A usually develop an enlarged liver and spleen (hepatosplenomegaly) by age 3 months and fail to gain weight and grow at the expected rate (failure to thrive). The affected children develop normally until around age 1 year when they experience a progressive loss of mental abilities and movement (psychomotor regression). Children with Niemann-Pick disease type A also develop widespread lung damage (interstitial lung disease) that can cause recurrent lung infections and eventually lead to respiratory failure. All affected children have an eye abnormality called a cherry-red spot, which can be identified with an eye examination. Children with Niemann-Pick disease type A generally do not survive past early childhood.\n\nThe signs and symptoms of Niemann-Pick disease types C1 and C2 are very similar; these types differ only in their genetic cause. Niemann-Pick disease types C1 and C2 usually become apparent in childhood, although signs and symptoms can develop at any time. People with these types usually develop difficulty coordinating movements (ataxia), an inability to move the eyes vertically (vertical supranuclear gaze palsy), poor muscle tone (dystonia), severe liver disease, and interstitial lung disease. Individuals with Niemann-Pick disease types C1 and C2 have problems with speech and swallowing that worsen over time, eventually interfering with feeding. Affected individuals often experience progressive decline in intellectual function and about one-third have seizures. People with these types may survive into adulthood.\n\nNiemann-Pick disease type B usually presents in mid-childhood. The signs and symptoms of this type are similar to type A, but not as severe. People with Niemann-Pick disease type B often have hepatosplenomegaly, recurrent lung infections, and a low number of platelets in the blood (thrombocytopenia). They also have short stature and slowed mineralization of bone (delayed bone age). About one-third of affected individuals have the cherry-red spot eye abnormality or neurological impairment. People with Niemann-Pick disease type B usually survive into adulthood.|MedlinePlus Genetics|N|
C0268248|Niemann-Pick disease, type E is a poorly defined adult-onset and non-neuronopathic form of Niemann-Pick disease.|MONDO|N|
C0268250|Gaucher disease (GD) encompasses a continuum of clinical findings from a perinatal lethal disorder to an asymptomatic type. The identification of three major clinical types (1, 2, and 3) and two other subtypes (perinatal-lethal and cardiovascular) is useful in determining prognosis and management. GD type 1 is characterized by the presence of clinical or radiographic evidence of bone disease (osteopenia, focal lytic or sclerotic lesions, and osteonecrosis), hepatosplenomegaly, anemia and thrombocytopenia, lung disease, and the absence of primary central nervous system disease. GD types 2 and 3 are characterized by the presence of primary neurologic disease; in the past, they were distinguished by age of onset and rate of disease progression, but these distinctions are not absolute. Disease with onset before age two years, limited psychomotor development, and a rapidly progressive course with death by age two to four years is classified as GD type 2. Individuals with GD type 3 may have onset before age two years, but often have a more slowly progressive course, with survival into the third or fourth decade. The perinatal-lethal form is associated with ichthyosiform or collodion skin abnormalities or with nonimmune hydrops fetalis. The cardiovascular form is characterized by calcification of the aortic and mitral valves, mild splenomegaly, corneal opacities, and supranuclear ophthalmoplegia. Cardiopulmonary complications have been described with all the clinical subtypes, although varying in frequency and severity.|GeneReviews|N|
C0268251|Gaucher disease (GD) encompasses a continuum of clinical findings from a perinatal lethal disorder to an asymptomatic type. The identification of three major clinical types (1, 2, and 3) and two other subtypes (perinatal-lethal and cardiovascular) is useful in determining prognosis and management. GD type 1 is characterized by the presence of clinical or radiographic evidence of bone disease (osteopenia, focal lytic or sclerotic lesions, and osteonecrosis), hepatosplenomegaly, anemia and thrombocytopenia, lung disease, and the absence of primary central nervous system disease. GD types 2 and 3 are characterized by the presence of primary neurologic disease; in the past, they were distinguished by age of onset and rate of disease progression, but these distinctions are not absolute. Disease with onset before age two years, limited psychomotor development, and a rapidly progressive course with death by age two to four years is classified as GD type 2. Individuals with GD type 3 may have onset before age two years, but often have a more slowly progressive course, with survival into the third or fourth decade. The perinatal-lethal form is associated with ichthyosiform or collodion skin abnormalities or with nonimmune hydrops fetalis. The cardiovascular form is characterized by calcification of the aortic and mitral valves, mild splenomegaly, corneal opacities, and supranuclear ophthalmoplegia. Cardiopulmonary complications have been described with all the clinical subtypes, although varying in frequency and severity.|GeneReviews|N|
C0268252|A Krabbe disease that occurs in an adult.|MONDO|N|
C0268255|The spectrum of ASAH1-related disorders ranges from Farber disease (FD) to spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME). Classic FD is characterized by onset in the first weeks of life of painful, progressive deformity of the major joints; palpable subcutaneous nodules of joints and mechanical pressure points; and a hoarse cry resulting from granulomas of the larynx and epiglottis. Life expectancy is usually less than two years. In the other less common types of FD, onset, severity, and primary manifestations vary. SMA-PME is characterized by early-childhood-onset progressive lower motor neuron disease manifest typically between ages three and seven years as proximal lower-extremity weakness, followed by progressive myoclonic and atonic seizures, tremulousness/tremor, and sensorineural hearing loss. Myoclonic epilepsy typically begins in late childhood after the onset of weakness and can include jerking of the upper limbs, action myoclonus, myoclonic status, and eyelid myoclonus. Other findings include generalized tremor, and cognitive decline. The time from disease onset to death from respiratory complications is usually five to 15 years.|GeneReviews|N|
C0268262|The adult form of metachromatic leukodystrophy affects approximately 15 to 20 percent of individuals with the disorder. In this form, the first symptoms appear during the teenage years or later. Often behavioral problems such as alcohol use disorder, drug abuse, or difficulties at school or work are the first symptoms to appear. The affected individual may experience psychiatric symptoms such as delusions or hallucinations. People with the adult form of metachromatic leukodystrophy may survive for 20 to 30 years after diagnosis. During this time there may be some periods of relative stability and other periods of more rapid decline.\n\nIn 20 to 30 percent of individuals with metachromatic leukodystrophy, onset occurs between the age of 4 and adolescence. In this juvenile form, the first signs of the disorder may be behavioral problems and increasing difficulty with schoolwork. Progression of the disorder is slower than in the late infantile form, and affected individuals may survive for about 20 years after diagnosis.\n\nMetachromatic leukodystrophy gets its name from the way cells with an accumulation of sulfatides appear when viewed under a microscope. The sulfatides form granules that are described as metachromatic, which means they pick up color differently than surrounding cellular material when stained for examination.\n\nThe most common form of metachromatic leukodystrophy, affecting about 50 to 60 percent of all individuals with this disorder, is called the late infantile form. This form of the disorder usually appears in the second year of life. Affected children lose any speech they have developed, become weak, and develop problems with walking (gait disturbance). As the disorder worsens, muscle tone generally first decreases, and then increases to the point of rigidity. Individuals with the late infantile form of metachromatic leukodystrophy typically do not survive past childhood.\n\nIn people with metachromatic leukodystrophy, white matter damage causes progressive deterioration of intellectual functions and motor skills, such as the ability to walk. Affected individuals also develop loss of sensation in the extremities (peripheral neuropathy), incontinence, seizures, paralysis, an inability to speak, blindness, and hearing loss. Eventually they lose awareness of their surroundings and become unresponsive. While neurological problems are the primary feature of metachromatic leukodystrophy, effects of sulfatide accumulation on other organs and tissues have been reported, most often involving the gallbladder.\n\nMetachromatic leukodystrophy is an inherited disorder characterized by the accumulation of fats called sulfatides in cells. This accumulation especially affects cells in the nervous system that produce myelin, the substance that insulates and protects nerves. Nerve cells covered by myelin make up a tissue called white matter. Sulfatide accumulation in myelin-producing cells causes progressive destruction of white matter (leukodystrophy) throughout the nervous system, including in the brain and spinal cord (the central nervous system) and the nerves connecting the brain and spinal cord to muscles and sensory cells that detect sensations such as touch, pain, heat, and sound (the peripheral nervous system).|MedlinePlus Genetics|N|
C0268263|Initial symptoms of multiple sulfatase deficiency (MSD) can develop from infancy through early childhood, and presentation is widely variable. Some individuals display the multisystemic features characteristic of mucopolysaccharidosis disorders (e.g., developmental regression, organomegaly, skeletal deformities) while other individuals present primarily with neurologic regression (associated with leukodystrophy). Based on age of onset, rate of progression, and disease severity, several different clinical subtypes of MSD have been described: Neonatal MSD is the most severe with presentation in the prenatal period or at birth with rapid progression and death occurring within the first two years of life. Infantile MSD is the most common variant and may be characterized as attenuated (slower clinical course with cognitive disability and neurodegeneration identified in the 2nd year of life) or severe (loss of the majority of developmental milestones by age 5 years). Juvenile MSD is the rarest subtype with later onset of symptoms and subacute clinical presentation. Many of the features found in MSD are progressive, including neurologic deterioration, heart disease, hearing loss, and airway compromise.|GeneReviews|N|
C0268271|GLB1-related disorders comprise two phenotypically distinct lysosomal storage disorders: GM1 gangliosidosis and mucopolysaccharidosis type IVB (MPS IVB). The phenotype of GM1 gangliosidosis constitutes a spectrum ranging from severe (infantile) to intermediate (late-infantile and juvenile) to mild (chronic/adult). Type I (infantile) GM1 gangliosidosis begins before age 12 months. Prenatal manifestations may include nonimmune hydrops fetalis, intrauterine growth restriction, and placental vacuolization; congenital dermal melanocytosis (Mongolian spots) may be observed. Macular cherry-red spot is detected on eye exam. Progressive central nervous system dysfunction leads to spasticity and rapid regression; blindness, deafness, decerebrate rigidity, seizures, feeding difficulties, and oral secretions are observed. Life expectancy is two to three years. Type II can be subdivided into the late-infantile (onset age 1-3 years) and juvenile (onset age 3-10 years) phenotypes. Central nervous system dysfunction manifests as progressive cognitive, motor, and speech decline as measured by psychometric testing. There may be mild corneal clouding, hepatosplenomegaly, and/or cardiomyopathy; the typical course is characterized by progressive neurologic decline, progressive skeletal disease in some individuals (including kyphosis and avascular necrosis of the femoral heads), and progressive feeding difficulties leading to aspiration risk. Type III begins in late childhood to the third decade with generalized dystonia leading to unsteady gait and speech disturbance followed by extrapyramidal signs including akinetic-rigid parkinsonism. Cardiomyopathy develops in some and skeletal involvement occurs in most. Intellectual impairment is common late in the disease with prognosis directly related to the degree of neurologic impairment. MPS IVB is characterized by skeletal dysplasia with specific findings of axial and appendicular dysostosis multiplex, short stature (below 15th centile in adults), kyphoscoliosis, coxa/genu valga, joint laxity, platyspondyly, and odontoid hypoplasia. First signs and symptoms may be apparent at birth. Bony involvement is progressive, with more than 84% of adults requiring ambulation aids; life span does not appear to be limited. Corneal clouding is detected in some individuals and cardiac valvular disease may develop.|GeneReviews|N|
C0268272|GLB1-related disorders comprise two phenotypically distinct lysosomal storage disorders: GM1 gangliosidosis and mucopolysaccharidosis type IVB (MPS IVB). The phenotype of GM1 gangliosidosis constitutes a spectrum ranging from severe (infantile) to intermediate (late-infantile and juvenile) to mild (chronic/adult). Type I (infantile) GM1 gangliosidosis begins before age 12 months. Prenatal manifestations may include nonimmune hydrops fetalis, intrauterine growth restriction, and placental vacuolization; congenital dermal melanocytosis (Mongolian spots) may be observed. Macular cherry-red spot is detected on eye exam. Progressive central nervous system dysfunction leads to spasticity and rapid regression; blindness, deafness, decerebrate rigidity, seizures, feeding difficulties, and oral secretions are observed. Life expectancy is two to three years. Type II can be subdivided into the late-infantile (onset age 1-3 years) and juvenile (onset age 3-10 years) phenotypes. Central nervous system dysfunction manifests as progressive cognitive, motor, and speech decline as measured by psychometric testing. There may be mild corneal clouding, hepatosplenomegaly, and/or cardiomyopathy; the typical course is characterized by progressive neurologic decline, progressive skeletal disease in some individuals (including kyphosis and avascular necrosis of the femoral heads), and progressive feeding difficulties leading to aspiration risk. Type III begins in late childhood to the third decade with generalized dystonia leading to unsteady gait and speech disturbance followed by extrapyramidal signs including akinetic-rigid parkinsonism. Cardiomyopathy develops in some and skeletal involvement occurs in most. Intellectual impairment is common late in the disease with prognosis directly related to the degree of neurologic impairment. MPS IVB is characterized by skeletal dysplasia with specific findings of axial and appendicular dysostosis multiplex, short stature (below 15th centile in adults), kyphoscoliosis, coxa/genu valga, joint laxity, platyspondyly, and odontoid hypoplasia. First signs and symptoms may be apparent at birth. Bony involvement is progressive, with more than 84% of adults requiring ambulation aids; life span does not appear to be limited. Corneal clouding is detected in some individuals and cardiac valvular disease may develop.|GeneReviews|N|
C0268273|GLB1-related disorders comprise two phenotypically distinct lysosomal storage disorders: GM1 gangliosidosis and mucopolysaccharidosis type IVB (MPS IVB). The phenotype of GM1 gangliosidosis constitutes a spectrum ranging from severe (infantile) to intermediate (late-infantile and juvenile) to mild (chronic/adult). Type I (infantile) GM1 gangliosidosis begins before age 12 months. Prenatal manifestations may include nonimmune hydrops fetalis, intrauterine growth restriction, and placental vacuolization; congenital dermal melanocytosis (Mongolian spots) may be observed. Macular cherry-red spot is detected on eye exam. Progressive central nervous system dysfunction leads to spasticity and rapid regression; blindness, deafness, decerebrate rigidity, seizures, feeding difficulties, and oral secretions are observed. Life expectancy is two to three years. Type II can be subdivided into the late-infantile (onset age 1-3 years) and juvenile (onset age 3-10 years) phenotypes. Central nervous system dysfunction manifests as progressive cognitive, motor, and speech decline as measured by psychometric testing. There may be mild corneal clouding, hepatosplenomegaly, and/or cardiomyopathy; the typical course is characterized by progressive neurologic decline, progressive skeletal disease in some individuals (including kyphosis and avascular necrosis of the femoral heads), and progressive feeding difficulties leading to aspiration risk. Type III begins in late childhood to the third decade with generalized dystonia leading to unsteady gait and speech disturbance followed by extrapyramidal signs including akinetic-rigid parkinsonism. Cardiomyopathy develops in some and skeletal involvement occurs in most. Intellectual impairment is common late in the disease with prognosis directly related to the degree of neurologic impairment. MPS IVB is characterized by skeletal dysplasia with specific findings of axial and appendicular dysostosis multiplex, short stature (below 15th centile in adults), kyphoscoliosis, coxa/genu valga, joint laxity, platyspondyly, and odontoid hypoplasia. First signs and symptoms may be apparent at birth. Bony involvement is progressive, with more than 84% of adults requiring ambulation aids; life span does not appear to be limited. Corneal clouding is detected in some individuals and cardiac valvular disease may develop.|GeneReviews|N|
C0268274|A group of recessively inherited diseases characterized by the intralysosomal accumulation of G(M2) GANGLIOSIDE in the neuronal cells. Subtypes include mutations of enzymes in the BETA-N-ACETYLHEXOSAMINIDASES system or G(M2) ACTIVATOR PROTEIN leading to disruption of normal degradation of GANGLIOSIDES, a subclass of ACIDIC GLYCOSPHINGOLIPIDS.|MONDO|N|
C0268275|Acute infantile GM2 activator deficiency is a neurodegenerative disorder in which infants, who are generally normal at birth, have progressive weakness and slowing of developmental progress between ages four and 12 months. An ensuing developmental plateau is followed by progressively rapid developmental regression. By the second year of life decerebrate posturing, difficulty in swallowing, and worsening seizures lead to an unresponsive vegetative state. Death usually occurs between ages two and three years.|GeneReviews|N|
C0268281|CLN1 disease is an inherited disorder that primarily affects the nervous system. Individuals with this condition have normal development in infancy, but typically by 18 months they become increasingly irritable and begin to lose previously acquired skills (developmental regression). In affected children, nerve cells in the brain die over time, leading to an overall loss of brain tissue (brain atrophy) and an unusually small head (microcephaly). Children with CLN1 disease have decreased muscle tone (hypotonia), intellectual and motor disability, and rarely are able to speak or walk. Some affected children develop repetitive hand movements. By age 2, individuals with this condition often have muscle twitches (myoclonus), recurrent seizures (epilepsy), and vision loss. Some affected children develop frequent respiratory infections. As the condition worsens, children have severe feeding difficulties that often require a feeding tube. Children with CLN1 disease usually do not survive past childhood.\n\nCLN1 disease is one of a group of disorders known as neuronal ceroid lipofuscinoses (NCLs), which may also be collectively referred to as Batten disease. All these disorders affect the nervous system and typically cause worsening problems with vision, movement, and thinking ability. The different NCLs are distinguished by their genetic cause. Each disease type is given the designation "CLN," meaning ceroid lipofuscinosis, neuronal, and then a number to indicate its subtype.\n\nSome people with CLN1 disease do not develop symptoms until later in childhood or in adulthood. As with younger affected children, older individuals develop a decline in intellectual function, myoclonus, epilepsy, and vision loss. In these individuals, life expectancy depends on when signs and symptoms of CLN1 disease develop and their severity; affected individuals may survive only into adolescence or through adulthood. Adults with CLN1 disease may also have movement disorders, including impaired muscle coordination (ataxia) or a pattern of movement abnormalities known as parkinsonism.|MedlinePlus Genetics|N|
C0268283|A disease that has its basis in the disruption of steroid metabolic process.|MONDO|N|
C0268285|17 alpha(a)-hydroxylase/17,20-lyase deficiency is a condition that affects the function of certain hormone-producing glands called the gonads (ovaries in females and testes in males) and the adrenal glands. The gonads direct sexual development before birth and during puberty and are important for reproduction. The adrenal glands, which are located on top of the kidneys, regulate the production of certain hormones, including those that control salt levels in the body. People with 17a-hydroxylase/17,20-lyase deficiency have an imbalance of many of the hormones that are made in these glands. 17a-hydroxylase/17,20-lyase deficiency is one of a group of disorders, known as congenital adrenal hyperplasias, that impair hormone production and disrupt sexual development and maturation.\n\nHormone imbalances lead to the characteristic signs and symptoms of 17a-hydroxylase/17,20-lyase deficiency, which include high blood pressure (hypertension), low levels of potassium in the blood (hypokalemia), and abnormal sexual development. The severity of the features varies. Two forms of the condition are recognized: complete 17a-hydroxylase/17,20-lyase deficiency, which is more severe, and partial 17a-hydroxylase/17,20-lyase deficiency, which is typically less so.\n\nMales and females are affected by disruptions to sexual development differently. Females (who have two X chromosomes) with 17a-hydroxylase/17,20-lyase deficiency are born with normal external female genitalia; however, the internal reproductive organs, including the uterus and ovaries, may be underdeveloped. Women with complete 17a-hydroxylase/17,20-lyase deficiency do not develop secondary sex characteristics, such as breasts and pubic hair, and do not menstruate (amenorrhea). Women with partial 17a-hydroxylase/17,20-lyase deficiency may develop some secondary sex characteristics; menstruation is typically irregular or absent. Either form of the disorder results in an inability to conceive a baby (infertility).\n\nIn affected individuals who are chromosomally male (having an X and a Y chromosome), problems with sexual development lead to abnormalities of the external genitalia. The most severely affected are born with characteristically female external genitalia and are generally raised as females. However, because they do not have female internal reproductive organs, these individuals have amenorrhea and do not develop female secondary sex characteristics. These individuals have testes, but they are abnormally located in the abdomen (undescended). Sometimes, complete 17a-hydroxylase/17,20-lyase deficiency leads to external genitalia that do not look clearly male or clearly female. Males with partial 17a-hydroxylase/17,20-lyase deficiency may have a small penis (micropenis), the opening of the urethra on the underside of the penis (hypospadias), or a scrotum divided into two lobes (bifid scrotum). Males with either complete or partial 17a-hydroxylase/17,20-lyase deficiency are also infertile.|MedlinePlus Genetics|N|
C0268287|Less than necessary amount of the enzyme steroid 21-monooxygenase; which is necessary to synthesize cortisol.|NCI|N|
C0268292|Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency is an autosomal recessive disorder of corticosteroid biosynthesis resulting in androgen excess, virilization, and hypertension. The defect causes decreased synthesis of cortisol and corticosterone in the zona fasciculata of the adrenal gland, resulting in accumulation of the precursors 11-deoxycortisol and 11-deoxycorticosterone; the latter is a potent salt-retaining mineralocorticoid that leads to arterial hypertension (White et al., 1991).
CAH due to 11-beta-hydroxylase deficiency accounts for approximately 5 to 8% of all CAH cases; approximately 90% of cases are caused by 21-hydroxylase deficiency (201910) (White et al., 1991).|OMIM|N|
C0268293|CMO type I deficiency is an autosomal recessive disorder caused by a defect in the penultimate biochemical step of aldosterone biosynthesis, the 18-hydroxylation of corticosterone (B) to 18-hydroxycorticosterone (18-OHB). This enzymatic defect results in decreased aldosterone and salt-wasting. In CMO I deficiency, aldosterone is undetectable, whereas its immediate precursor, 18-OHB, is low or normal. These patients have an increased ratio of corticosterone to 18-OHB (Portrat-Doyen et al., 1998).
The CYP11B2 gene product also catalyzes the final step in aldosterone biosynthesis: the 18-oxidation of 18-OHB to aldosterone. A   defect in that enzymatic step results in CMO type II deficiency (610600), an allelic disorder with an overlapping phenotype but distinct biochemical features. In CMO II deficiency, aldosterone can be low or normal, but at the expense of increased secretion of 18-OHB. These patients have a low ratio of corticosterone to 18-OHB (Portrat-Doyen et al., 1998).|OMIM|N|
C0268296|HSD17B3 deficiency is an autosomal recessive disorder that manifests, in males, as undermasculinization characterized by hypoplastic-to-normal internal genitalia (epididymis, vas deferens, seminal vesicles, and ejaculatory ducts) but female external genitalia and the absence of a prostate. This phenotype is caused by inadequate testicular synthesis of testosterone, which, in turn, results in insufficient formation of dihydrotestosterone in the anlage of the external genitalia and prostate during fetal development. At the expected time of puberty, there is a marked increase in plasma leuteinizing hormone and, consequently, in testicular secretion of androstenedione. Hence, a diagnostic hallmark of this disorder is a decreased plasma testosterone-to-androstenedione ratio. Significant amounts of the circulating androstenedione are, however, converted to testosterone, in peripheral tissues, thereby causing virilization (summary by Lindqvist et al., 2001).|OMIM|N|
C0268297|Pseudovaginal perineoscrotal hypospadias is a form of male pseudohermaphroditism in which 46,XY males show ambiguous genitalia at birth, including perineal hypospadias and a blind perineal pouch, and develop masculinization at puberty. The name of the disorder stems from the finding of a blind-ending perineal opening resembling a vagina and a severely hypospadiac penis with the urethra opening onto the perineum.|OMIM|N|
C0268301|Individuals with androgen insensitivity have a 46,XY karyotype and testes that produce age-appropriate androgen levels but have undermasculinized external genitalia due to defects in androgen action. The phenotype in PAIS varies depending on residual androgen receptor function, ranging from severe undermasculinization presenting as female-like external genitalia to male-appearing genitalia. The typical presentation comprises micropenis, severe hypospadias, and bifid scrotum with or without cryptorchidism (summary by Mongan et al., 2015).|OMIM|N|
C0268306|An increased amount of unconjugated (indirect) bilurubin in the blood.|HPO|N|
C0268307|Abnormally high level of conjugated bilirubin in the blood.|NCI|N|
C0268312|Progressive familial intrahepatic cholestasis (PFIC) is a disorder that causes progressive liver disease, which typically leads to liver failure. In people with PFIC, liver cells are less able to secrete a digestive fluid called bile. The buildup of bile in liver cells causes liver disease in affected individuals.\n\nSigns and symptoms of PFIC typically begin in infancy and are related to bile buildup and liver disease. Specifically, affected individuals experience severe itching, yellowing of the skin and whites of the eyes (jaundice), failure to gain weight and grow at the expected rate (failure to thrive), high blood pressure in the vein that supplies blood to the liver (portal hypertension), and an enlarged liver and spleen (hepatosplenomegaly).\n\nMost people with PFIC3 have signs and symptoms related to liver disease only.  Signs and symptoms of PFIC3 usually do not appear until later in infancy or early childhood; rarely, people are diagnosed in early adulthood.  Liver failure can occur in childhood or adulthood in people with PFIC3.\n\nThere are three known types of PFIC: PFIC1, PFIC2, and PFIC3. The types are also sometimes described as shortages of particular proteins needed for normal liver function. Each type has a different genetic cause.\n\nIn addition to signs and symptoms related to liver disease, people with PFIC1 may have short stature, deafness, diarrhea, inflammation of the pancreas (pancreatitis), and low levels of fat-soluble vitamins (vitamins A, D, E, and K) in the blood. Affected individuals typically develop liver failure before adulthood.\n\nThe signs and symptoms of PFIC2 are typically related to liver disease only; however, these signs and symptoms tend to be more severe than those experienced by people with PFIC1. People with PFIC2 often develop liver failure within the first few years of life. Additionally, affected individuals are at increased risk of developing a type of liver cancer called hepatocellular carcinoma.|MedlinePlus Genetics|N|
C0268314|Cholestasis-lymphedema syndrome is a rare genetic disorder characterized by neonatal intrahepatic cholestasis, often lessening and becoming intermittent with age, and severe chronic lymphedema which mainly affects the lower limbs. Patients often present with fat malabsorption leading to failure to thrive, fat soluble vitamin deficiency with bleeding, rickets, and neuropathy. In 25% of cases, cirrhosis occurs during childhood or later in life.|ORDO|N|
C0268318|Intrahepatic cholestasis of pregnancy (ICP) is a cholestatic disorder characterized by (i) pruritus with onset in the second or third trimester of pregnancy, (ii) elevated serum aminotransferases and bile acid levels, and (iii) spontaneous relief of signs and symptoms within two to three weeks after delivery.|ORDO|N|
C0268322|Chester porphyria is a unique type of porphyria with the signs and symptoms of acute intermittent porphyria (AIP) and the biochemical defects of both AIP and variegate porphyria (VP). Chester porphyria does not conform to any of the recognized types of acute porphyria. The symptoms associated with Chester porphyria are similar to those observed in other acute porphyrias. Treatment is symptomatic.|MONDO|N|
C0268323|Familial porphyria cutanea tarda (F-PCT) is characterized by: skin findings including blistering over the dorsal aspects of the hands and other sun-exposed areas of skin, skin friability after minor trauma, facial hypertrichosis and hyperpigmentation, and severe thickening of affected skin areas (pseudoscleroderma); and an increased risk for hepatocellular carcinoma (HCC).|GeneReviews|N|
C0268328|ALAD porphyria is a rare autosomal recessive disorder that has been reported and confirmed by genetic analysis in only 5 patients (Jaffe and Stith, 2007).|OMIM|N|
C0268335|Classic Ehlers-Danlos syndrome (cEDS) is a connective tissue disorder characterized by skin hyperextensibility, atrophic scarring, and generalized joint hypermobility (GJH). The skin is soft and doughy to the touch, and hyperextensible, extending easily and snapping back after release (unlike lax, redundant skin, as in cutis laxa). The skin is fragile, as manifested by splitting of the dermis following relatively minor trauma, especially over pressure points (knees, elbows) and areas prone to trauma (shins, forehead, chin). Wound healing is poor, and stretching of scars after apparently successful primary wound healing is characteristic. Complications of joint hypermobility, such as dislocations of the shoulder, patella, digits, hip, radius, and clavicle, usually resolve spontaneously or are easily managed by the affected individual. Other features include hypotonia with delayed motor development, fatigue and muscle cramps, and easy bruising. Mitral valve prolapse can occur infrequently, but tends to be of little clinical consequence. Aortic root dilatation has been reported, appears to be more common in young individuals, and rarely progresses.|GeneReviews|N|
C0268336|Classic Ehlers-Danlos syndrome (cEDS) is a connective tissue disorder characterized by skin hyperextensibility, atrophic scarring, and generalized joint hypermobility (GJH). The skin is soft and doughy to the touch, and hyperextensible, extending easily and snapping back after release (unlike lax, redundant skin, as in cutis laxa). The skin is fragile, as manifested by splitting of the dermis following relatively minor trauma, especially over pressure points (knees, elbows) and areas prone to trauma (shins, forehead, chin). Wound healing is poor, and stretching of scars after apparently successful primary wound healing is characteristic. Complications of joint hypermobility, such as dislocations of the shoulder, patella, digits, hip, radius, and clavicle, usually resolve spontaneously or are easily managed by the affected individual. Other features include hypotonia with delayed motor development, fatigue and muscle cramps, and easy bruising. Mitral valve prolapse can occur infrequently, but tends to be of little clinical consequence. Aortic root dilatation has been reported, appears to be more common in young individuals, and rarely progresses.|GeneReviews|N|
C0268337|Hypermobile Ehlers-Danlos syndrome (hEDS) is generally considered the least severe type of EDS, although significant complications, primarily musculoskeletal, can and do occur. The skin is often soft and may be mildly hyperextensible. Subluxations and dislocations are common; they may occur spontaneously or with minimal trauma and can be acutely painful. Degenerative joint disease is common. Chronic pain, distinct from that associated with acute dislocations, is a serious complication of the condition and can be both physically and psychologically disabling. Easy bruising, functional bowel disorders, and cardiovascular autonomic dysfunction are common. Aortic root dilation, when present, is typically of a mild degree with no increased risk of dissection in the absence of significant dilation. Psychological dysfunction, psychosocial impairment, and emotional problems are common.|GeneReviews|N|
C0268338|Vascular Ehlers-Danlos syndrome (vEDS) is characterized by arterial, intestinal, and/or uterine fragility; thin, translucent skin; easy bruising; characteristic facial appearance (thin vermilion of the lips, micrognathia, narrow nose, prominent eyes); and an aged appearance to the extremities, particularly the hands. Vascular dissection or rupture, gastrointestinal perforation, or organ rupture are the presenting signs in most adults with vEDS. Arterial rupture may be preceded by aneurysm, arteriovenous fistulae, or dissection but also may occur spontaneously. The majority (60%) of individuals with vEDS who are diagnosed before age 18 years are identified because of a positive family history. Neonates may present with clubfoot, hip dislocation, limb deficiency, and/or amniotic bands. Approximately half of children tested for vEDS in the absence of a positive family history present with a major complication at an average age of 11 years. Four minor diagnostic features – distal joint hypermobility, easy bruising, thin skin, and clubfeet – are most often present in those children ascertained without a major complication.|GeneReviews|N|
C0268339|The autosomal dominant form of the vascular type of Ehlers-Danlos syndrome. vEDS is almost always inherited in an autosomal dominant manner but rare examples of biallelic inheritance have been reported.|MONDO|N|
C0268340|The rare autosomal recessive form of the vascular type of Ehlers-Danlos syndrome. vEDS is almost always inherited in an autosomal dominant manner but rare examples of biallelic inheritance have been reported.|MONDO|N|
C0268341|A rare systemic disease characterized by a severe phenotype in all male patients, combining abnormality of connective tissue typical for Ehlers-Danlos syndrome (including joint hypermobility, scoliosis, soft and doughy skin, hyperextensible skin, abnormal scarring, facial peculiarities, and generalized hypotonia, among others) and eventually lethal congestive heart failure due to polyvalvular disease. Female carriers are affected to a variable degree.|ORDO|N|
C0268342|PLOD1-related kyphoscoliotic Ehlers-Danlos syndrome (kEDS) is an autosomal recessive generalized connective tissue disorder characterized by hypotonia, early-onset kyphoscoliosis, and generalized joint hypermobility in association with skin fragility and ocular abnormality. Intelligence is normal. Life span may be normal, but affected individuals are at risk for rupture of medium-sized arteries. Adults with severe kyphoscoliosis are at risk for complications from restrictive lung disease, recurrent pneumonia, and cardiac failure.|GeneReviews|N|
C0268344|Brittle cornea syndrome (BCS) is characterized by blue sclerae, corneal rupture after minor trauma, keratoconus or keratoglobus, hyperelasticity of the skin, and hypermobility of the joints (Al-Hussain et al., 2004). It is classified as a form of Ehlers-Danlos syndrome (Malfait et al., 2017).
Genetic Heterogeneity of Brittle Cornea Syndrome
Brittle cornea syndrome-2 (BCS2; 614170) is caused by mutation in the PRDM5 gene (614161) on chromosome 4q27.|OMIM|N|
C0268345|Ehlers-Danlos syndrome, type VII includes the arthrochalasia type (types VIIA and VIIB) Ehlers-Danlos syndrome, and the dermatosparaxis type (type VIIC) Ehlers-Danlos syndrome. The arthrochalasia type Ehlers-Danlos syndrome is caused by mutations in the COL1A1 gene or the COL1A2 gene. The dermatosparaxis type Ehlers-Danlos syndrome is caused by mutations in the ADAMTS2 gene.|NCI|N|
C0268347|Ehlers-Danlos syndrome (EDS) is a clinically and genetically heterogeneous group of connective tissue disorders defined by joint laxity and skin alterations that include hyperextensibility, atrophic scarring, and bruising. Periodontal EDS (EDSPD; previously designated 'EDS VIII') is a specific subtype of EDS with autosomal dominant inheritance, in which the defining feature is an EDS phenotype combined with severe periodontal inflammation. In childhood, periodontal inflammation in EDSPD is characterized by extensive gingivitis in response to mild plaque accumulation. In the teens, early-onset periodontitis leads to inflammatory destruction of dental attachment and premature loss of teeth. Other clinical features include pretibial hyperpigmentation, acrogeria, skin and gum fragility, scarring, generalized and/or distal joint hypermobility, and bruising out of proportion to trauma. There are also reports of life-threatening complications such as arterial or gastrointestinal ruptures (summary by Kapferer-Seebacher et al., 2016).
Genetic Heterogeneity of Ehlers-Danlos Syndrome, Periodontal Type
Ehlers-Danlos syndrome periodontal type 2 (EDSPD2; 617174) is caused by mutation in the C1S gene (120580) on chromosome 12p13.|OMIM|N|
C0268349|A rare genetic disease characterized by generalized joint laxity leading to recurrent dislocation of major joints, such as the hip (often with congenital hip dislocation), shoulder, elbow, or patella. Patients often experience muscle and joint pain (sometimes with effusion) and may develop degenerative joint changes at a relatively early age. Skin abnormalities are absent.|ORDO|N|
C0268350|Cutis laxa is a disorder of connective tissue, which is the tissue that provides structure and strength to the muscles, joints, organs, and skin. Most cases are inherited, but some are acquired, which means they do not appear to be caused by genetic variations. While signs and symptoms of inherited cutis laxa are often noticeable in infancy or childhood, acquired cutis laxa typically appears later in life. This summary primarily describes inherited forms of cutis laxa.  \n\nThe term "cutis laxa" is Latin for loose or lax skin, and this condition is characterized by skin that is sagging and not stretchy (inelastic). The skin often hangs in loose folds, causing the face and other parts of the body to have a droopy or wrinkled appearance. Extremely wrinkled skin may be particularly noticeable on the neck and in the armpits and groin.\n\nOther rare conditions, including arterial tortuosity syndrome, geroderma osteodysplastica, and RIN2 syndrome, are sometimes classified as cutis laxa-related conditions, because affected individuals can have loose, sagging skin. These conditions each have a particular pattern of signs and symptoms affecting different tissues and body systems.\n\nCutis laxa can also affect connective tissue in other parts of the body, including the heart, blood vessels, intestines, and lungs. The disorder can cause heart problems and abnormal narrowing, bulging, or tearing of critical blood vessels. Affected individuals may have soft out-pouchings in the lower abdomen (inguinal  hernia) or around the belly button (umbilical hernia). Sacs called diverticula can also develop in the walls of certain organs, such as the bladder and intestines. During childhood, some people with cutis laxa develop a life-long lung disease called emphysema, which can make it difficult to breathe. Depending on which organs and tissues are affected, the signs and symptoms of cutis laxa can range from mild to life-threatening.\n\nResearchers have described several different forms of cutis laxa. The forms are often distinguished by their pattern of inheritance: autosomal dominant, autosomal recessive, or X-linked. In general, the autosomal recessive forms of cutis laxa tend to be more severe than the autosomal dominant forms, although some people with autosomal dominant cutis laxa are severely affected. In addition to the features described above, people with autosomal recessive cutis laxa can have delayed development, intellectual disability, seizures, problems with movement, or eye or bone abnormalities.\n\nThe X-linked form of cutis laxa is often called occipital horn syndrome. This form of the disorder is considered a mild type of Menkes syndrome, which is a condition that affects copper levels in the body. In addition to sagging and inelastic skin, occipital horn syndrome is characterized by wedge-shaped calcium deposits in a bone at the base of the skull (the occipital bone), coarse hair, and loose joints.|MedlinePlus Genetics|N|
C0268351|FBLN5-related cutis laxa is characterized by cutis laxa, early childhood-onset pulmonary emphysema, peripheral pulmonary artery stenosis, and other evidence of a generalized connective disorder such as inguinal hernias and hollow viscus diverticula (e.g., intestine, bladder). Occasionally, supravalvar aortic stenosis is observed. Intrafamilial variability in age of onset is observed. Cardiorespiratory failure from complications of pulmonary emphysema (respiratory or cardiac insufficiency) is the most common cause of death.|GeneReviews|N|
C0268353|Occipital horn syndrome (OHS) is a rare connective tissue disorder characterized by hyperelastic and bruisable skin, hernias, bladder diverticula, hyperextensible joints, varicosities, and multiple skeletal abnormalities. The disorder is sometimes accompanied by mild neurologic impairment, and bony abnormalities of the occiput are a common feature, giving rise to the name (summary by Das et al., 1995).|OMIM|N|
C0268354|A syndrome with characteristics of facial dysmorphism, a progeroid appearance, large and late closing fontanelle, cutis laxa, joint hyperlaxity, athetoid movements and hyperreflexia, pre and postnatal growth retardation, intellectual deficit and developmental delay, and corneal clouding and cataract.|SNOMEDCT_US|N|
C0268355|ATP6V0A2-related cutis laxa is characterized by generalized cutis laxa, findings associated with generalized connective tissue disorder, developmental delays, and a variety of neurologic findings including abnormality on brain MRI. At birth, hypotonia, overfolded skin, and distinctive facial features are present and enlarged fontanelles are often observed. During childhood, the characteristic facial features and thick or coarse hair may become quite pronounced. The skin findings decrease with age, although easy bruising and Ehlers-Danlos-like scars have been described in some. In most (not all) affected individuals, cortical and cerebellar malformations are observed on brain MRI. Nearly all affected individuals have developmental delays, seizures, and neurologic regression.|GeneReviews|N|
C0268358|COL1A1/2 osteogenesis imperfecta (COL1A1/2-OI) is characterized by fractures with minimal or absent trauma, variable dentinogenesis imperfecta (DI), and, in adult years, hearing loss. The clinical features of COL1A1/2-OI represent a continuum ranging from perinatal lethality to individuals with severe skeletal deformities, mobility impairments, and very short stature to nearly asymptomatic individuals with a mild predisposition to fractures, normal dentition, normal stature, and normal life span. Fractures can occur in any bone but are most common in the extremities. DI is characterized by gray or brown teeth that may appear translucent, wear down, and break easily. COL1A1/2-OI has been classified into four types based on clinical presentation and radiographic findings. This classification system can be helpful in providing information about prognosis and management for a given individual. The four more common OI types are now referred to as follows: Classic non-deforming OI with blue sclerae (previously OI type I). Perinatally lethal OI (previously OI type II). Progressively deforming OI (previously OI type III). Common variable OI with normal sclerae (previously OI type IV).|GeneReviews|N|
C0268362|COL1A1/2 osteogenesis imperfecta (COL1A1/2-OI) is characterized by fractures with minimal or absent trauma, variable dentinogenesis imperfecta (DI), and, in adult years, hearing loss. The clinical features of COL1A1/2-OI represent a continuum ranging from perinatal lethality to individuals with severe skeletal deformities, mobility impairments, and very short stature to nearly asymptomatic individuals with a mild predisposition to fractures, normal dentition, normal stature, and normal life span. Fractures can occur in any bone but are most common in the extremities. DI is characterized by gray or brown teeth that may appear translucent, wear down, and break easily. COL1A1/2-OI has been classified into four types based on clinical presentation and radiographic findings. This classification system can be helpful in providing information about prognosis and management for a given individual. The four more common OI types are now referred to as follows: Classic non-deforming OI with blue sclerae (previously OI type I). Perinatally lethal OI (previously OI type II). Progressively deforming OI (previously OI type III). Common variable OI with normal sclerae (previously OI type IV).|GeneReviews|N|
C0268363|COL1A1/2 osteogenesis imperfecta (COL1A1/2-OI) is characterized by fractures with minimal or absent trauma, variable dentinogenesis imperfecta (DI), and, in adult years, hearing loss. The clinical features of COL1A1/2-OI represent a continuum ranging from perinatal lethality to individuals with severe skeletal deformities, mobility impairments, and very short stature to nearly asymptomatic individuals with a mild predisposition to fractures, normal dentition, normal stature, and normal life span. Fractures can occur in any bone but are most common in the extremities. DI is characterized by gray or brown teeth that may appear translucent, wear down, and break easily. COL1A1/2-OI has been classified into four types based on clinical presentation and radiographic findings. This classification system can be helpful in providing information about prognosis and management for a given individual. The four more common OI types are now referred to as follows: Classic non-deforming OI with blue sclerae (previously OI type I). Perinatally lethal OI (previously OI type II). Progressively deforming OI (previously OI type III). Common variable OI with normal sclerae (previously OI type IV).|GeneReviews|N|
C0268371|Dystrophic epidermolysis bullosa (DEB) is a genetic skin disorder affecting skin and nails that usually presents at birth. DEB is divided into two major types depending on inheritance pattern: recessive dystrophic epidermolysis bullosa (RDEB) and dominant dystrophic epidermolysis bullosa (DDEB). Each type is further divided into multiple clinical subtypes. Absence of a known family history of DEB does not preclude the diagnosis. Clinical findings in severe generalized RDEB include skin fragility manifest by blistering with minimal trauma that heals with milia and scarring. Blistering and erosions affecting the whole body may be present in the neonatal period. Oral involvement may lead to mouth blistering, fusion of the tongue to the floor of the mouth, and progressive diminution of the size of the oral cavity. Esophageal erosions can lead to webs and strictures that can cause severe dysphagia. Consequently, malnutrition and vitamin and mineral deficiency may lead to growth restriction in young children. Corneal erosions can lead to scarring and loss of vision. Blistering of the hands and feet followed by scarring fuses the digits into "mitten" hands and feet, with contractures and pseudosyndactyly. The lifetime risk of aggressive squamous cell carcinoma is higher than 90%. In contrast, the blistering in the less severe forms of RDEB may be localized to hands, feet, knees, and elbows with or without involvement of flexural areas and the trunk, and without the mutilating scarring seen in severe generalized RDEB. In DDEB, blistering is often mild and limited to hands, feet, knees, and elbows, but nonetheless heals with scarring. Dystrophic nails, especially toenails, are common and may be the only manifestation of DDEB.|GeneReviews|N|
C0268374|Junctional epidermolysis bullosa (JEB) is characterized by fragility of the skin and mucous membranes, manifest by blistering with little or no trauma. Blistering may be severe and granulation tissue can form on the skin around the oral and nasal cavities, fingers and toes, and internally around the upper airway. Blisters generally heal with no significant scarring. Broad classification of JEB includes JEB generalized severe and JEB generalized intermediate. In JEB generalized severe, blisters are present at birth or become apparent in the neonatal period. Congenital malformations of the urinary tract and bladder may also occur. In JEB generalized intermediate, the phenotype may be mild with blistering localized to hands, feet, knees, and elbows with or without renal or ureteral involvement. Some individuals never blister after the newborn period. Additional features shared by JEB and the other major forms of epidermolysis bullosa (EB) include congenital localized absence of skin (aplasia cutis congenita), milia, nail dystrophy, scarring alopecia, hypotrichosis, pseudosyndactyly, and other contractures.|GeneReviews|N|
C0268381|A clonal B-cell disorder characterized by the aggregation and deposition of insoluble amyloid fibrils derived from misfolding of monoclonal immunoglobulin light chains. It usually presents as systemic AL amyloidosis with involvement of one or more parenchymal organ(s) and, less frequently, as localized amyloidosis with usually nodular deposits restricted to a single organ and/or system.|ORDO|N|
C0268382|A form of amyloidosis that affects the kidney. On hematoxylin and eosin stain, amyloid is identified as extracellular amorphous material that is lightly eosinophilic. These deposits often stain weakly for periodic acid Schiff (PAS), demonstrate a blue-to-gray hue on the trichrome stain and are typically negative on the Jones methenamine silver (JMS) stain. These tinctorial properties contrast with the histologic appearance of collagen, a major component of basement membranes, mesangial matrix and areas of sclerosis, which demonstrates strong positivity for PAS and JMS (See Figure 1 of PMID:25852856).|HPO|N|
C0268384|A rare hereditary ATTR amyloidosis (hATTR) characterized by a progressive, length-dependent sensorimotor axonal polyneuropathy and/or autonomic neuropathy in adulthood. Renal, ocular and cardiac involvement also frequently occurs. Two different phenotypes are associated with this mutation, namely early-onset V30M and late-onset V30M, that differ in terms of age on onset (&lt;50 years or &gt;50 years, respectively), presenting features, histopathological characteristics, rate of disease progression and response to therapy.|ORPHANET|N|
C0268389|A group of rare renal diseases, characterized by amyloid fibril deposition of apolipoprotein A-I or A-II (AApoAI or AApoAII amyloidosis), lysozyme (ALys amyloidosis) or fibrinogen A-alpha chain (AFib amyloidosis) in one or several organs. Renal involvement leading to chronic renal disease and renal failure is a common sign. Additional manifestations depend on the organ involved and the type of amyloid fibrils deposited.|ORDO|N|
C0268390|Muckle-Wells syndrome (MWS) is characterized by episodic skin rash, arthralgias, and fever associated with late-onset sensorineural deafness and renal amyloidosis (Dode et al., 2002).|OMIM|N|
C0268393|A rare, neurodegenerative disease characterized by progressive dementia and ataxia, widespread cerebral amyloid angiopathy and parenchymal amyloid deposition. Two subtypes have been identified, ABri amyloidosis and ADan amyloidosis.|ORDO|N|
C0268397|Primary localized cutaneous amyloidosis is characterized clinically by pruritus and skin scratching and histologically by the finding of deposits of amyloid staining on keratinous debris in the papillary dermis (summary by Tanaka et al., 2009).
Genetic Heterogeneity of Primary Localized Cutaneous Amyloidosis
Primary localized cutaneous amyloidosis-2 (PLCA2; 613955) is caused by heterozygous mutation in the IL31RA gene (609510) on chromosome 5q11. Primary localized cutaneous amyloidosis-3 (PLCA3; 617920) is caused by mutation in the GPNMB gene (604368) on chromosome 7p15.|OMIM|N|
C0268402|A form of amyloidosis that affects the conjunctiva.|HPO|N|
C0268405|A form of amyloidosis affecting patients with chronic kidney disease (CKD), on long term dialysis characterized by the accumulation of amyloid fibrils consisting of beta 2 microglobulin (&#946;2M) deposits in the musculoskeletal system leading to carpal tunnel syndrome (CTS), chronic arthropathy, cystic bone lesions, destructive osteoarthropathy, and pathologic fractures.|ORDO|N|
C0268407|Extracellular deposition in cardiac tissue of a proteinaceous material that, when stained with Congo red, demonstrates apple-green birefringence under polarized light and that has a distinct color when stained with sulfated Alcian blue. Viewed with electron microscopy, the amyloid deposits are seen to be composed of a beta-sheet fibrillar material. These nonbranching fibrils have a diameter of 7.5 to 10 nm and are the result of protein misfolding.|HPO|N|
C0268410|A rare lysosomal disease characterized by intermittent vomiting, hypotonia, lethargy, opisthotonos, and fatal outcome in early infancy, associated with deficient acid phosphatase in lysosomes. There have been no further descriptions in the literature since 1971.|ORDO|N|
C0268412|Hypophosphatasia is characterized by defective mineralization of growing or remodeling bone, with or without root-intact tooth loss, in the presence of low activity of serum and bone alkaline phosphatase. Clinical features range from stillbirth without mineralized bone at the severe end to pathologic fractures of the lower extremities in later adulthood at the mild end. While the disease spectrum is a continuum, seven clinical forms of hypophosphatasia are usually recognized based on age at diagnosis and severity of features: Perinatal (severe): characterized by pulmonary insufficiency and hypercalcemia. Perinatal (benign): prenatal skeletal manifestations that slowly resolve into one of the milder forms. Infantile: onset between birth and age six months of clinical features of rickets without elevated serum alkaline phosphatase activity. Severe childhood (juvenile): variable presenting features progressing to rickets. Mild childhood: low bone mineral density for age, increased risk of fracture, and premature loss of primary teeth with intact roots. Adult: characterized by stress fractures and pseudofractures of the lower extremities in middle age, sometimes associated with early loss of adult dentition. Odontohypophosphatasia: characterized by premature exfoliation of primary teeth and/or severe dental caries without skeletal manifestations.|GeneReviews|N|
C0268413|Hypophosphatasia is characterized by defective mineralization of growing or remodeling bone, with or without root-intact tooth loss, in the presence of low activity of serum and bone alkaline phosphatase. Clinical features range from stillbirth without mineralized bone at the severe end to pathologic fractures of the lower extremities in later adulthood at the mild end. While the disease spectrum is a continuum, seven clinical forms of hypophosphatasia are usually recognized based on age at diagnosis and severity of features: Perinatal (severe): characterized by pulmonary insufficiency and hypercalcemia. Perinatal (benign): prenatal skeletal manifestations that slowly resolve into one of the milder forms. Infantile: onset between birth and age six months of clinical features of rickets without elevated serum alkaline phosphatase activity. Severe childhood (juvenile): variable presenting features progressing to rickets. Mild childhood: low bone mineral density for age, increased risk of fracture, and premature loss of primary teeth with intact roots. Adult: characterized by stress fractures and pseudofractures of the lower extremities in middle age, sometimes associated with early loss of adult dentition. Odontohypophosphatasia: characterized by premature exfoliation of primary teeth and/or severe dental caries without skeletal manifestations.|GeneReviews|N|
C0268414|Paget disease of bone-5 is an autosomal recessive, juvenile-onset form of Paget disease, a disorder of the skeleton resulting from abnormal bone resorption and formation. Clinical manifestations include short stature, progressive long bone deformities, fractures, vertebral collapse, skull enlargement, and hyperostosis with progressive deafness. There is phenotypic variability, with some patients presenting in infancy, while others present later in childhood (summary by Naot et al., 2014).
For discussion of genetic heterogeneity of Paget disease of bone, see 167250.|OMIM|N|
C0268416|Deficiency of enterokinase, a sequence-specific protease that activates trypsinogen (see 276000) and has a major role in protein digestion, is an autosomal recessive disorder characterized by severe protein malabsorption in early infancy, with failure to thrive, chronic diarrhea, and generalized edema. In adulthood, patients have normal body weight and no gastrointestinal symptoms, even when pancreatic enzyme supplements are discontinued (summary by Holzinger et al., 2002).|OMIM|N|
C0268418|NR0B1-related adrenal hypoplasia congenita includes both X-linked adrenal hypoplasia congenita (X-linked AHC) and Xp21 deletion (previously called complex glycerol kinase deficiency). X-linked AHC is characterized by primary adrenal insufficiency and/or hypogonadotropic hypogonadism (HH). Adrenal insufficiency is acute infantile onset (average age 3 weeks) in approximately 60% of affected males and childhood onset (ages 1-9 years) in approximately 40%. HH typically manifests in a male with adrenal insufficiency as delayed puberty (i.e., onset age >14 years) and less commonly as arrested puberty at about Tanner Stage 3. Rarely, X-linked AHC manifests initially in early adulthood as delayed-onset adrenal insufficiency, partial HH, and/or infertility. Heterozygous females very occasionally have manifestations of adrenal insufficiency or hypogonadotropic hypogonadism. Xp21 deletion includes deletion of NR0B1 (causing X-linked AHC) and GK (causing glycerol kinase deficiency), and in some cases deletion of DMD (causing Duchenne muscular dystrophy). Developmental delay has been reported in males with Xp21 deletion when the deletion extends proximally to include DMD or when larger deletions extend distally to include IL1RAPL1 and DMD.|GeneReviews|N|
C0268419|Acatalasemia, also known as acatalasia, is a metabolic disorder characterized by a total or near total loss of catalase activity in erythrocytes. About half of cases originate from ulcerating oral gangrenes, and these cases are referred to as having Takahara disease. Half-normal levels of catalase in heterozygotes is referred to as hypocatalasemia or hypocatalasia (Ogata, 1991).|OMIM|N|
C0268425|Alström syndrome is characterized by cone-rod dystrophy, obesity, progressive bilateral sensorineural hearing impairment, acute infantile-onset cardiomyopathy and/or adolescent- or adult-onset restrictive cardiomyopathy, insulin resistance / type 2 diabetes mellitus (T2DM), nonalcoholic fatty liver disease (NAFLD), and chronic progressive kidney disease. Cone-rod dystrophy presents as progressive visual impairment, photophobia, and nystagmus usually starting between birth and age 15 months. Many individuals lose all perception of light by the end of the second decade, but a minority retain the ability to read large print into the third decade. Children usually have normal birth weight but develop truncal obesity during their first year. Sensorineural hearing loss presents in the first decade in as many as 70% of individuals and may progress to the severe or moderately severe range (40-70 db) by the end of the first to second decade. Insulin resistance is typically accompanied by the skin changes of acanthosis nigricans, and proceeds to T2DM in the majority by the third decade. Nearly all demonstrate hypertriglyceridemia. Other findings can include endocrine abnormalities (hypothyroidism, hypogonadotropic hypogonadism in males, and hyperandrogenism in females), urologic dysfunction / detrusor instability, progressive decrease in renal function, and hepatic disease (ranging from elevated transaminases to steatohepatitis/NAFLD). Approximately 20% of affected individuals have delay in early developmental milestones, most commonly in gross and fine motor skills. About 30% have a learning disability. Cognitive impairment (IQ <70) is very rare. Wide clinical variability is observed among affected individuals, even within the same family.|GeneReviews|N|
C0268435|A type of renal tubular acidosis characterized by a failure of the proximal tubular cells to reabsorb bicarbonate, leading to urinary bicarbonate wasting and subsequent acidemia.|HPO|N|
C0268436|A rare, primary form of mineralocorticoid resistance characterized by mild to profound salt wasting either restricted to the kidney (renal pseudohypoaldosteronism type 1), or generalized affecting many organs (generalized pseudohypoaldosteronism type 1). Clinical presentation is in the neonatal period with failure to thrive, vomiting and dehydration with biochemical findings of hyperkalaemia, metabolic acidosis and, elevated plasma aldosterone and renin concentration.|ORDO|N|
C0268445|An autosomal dominant inherited non-dystrophic myotonia caused by mutations of the SCN4A gene, resulting in sodium muscle channelopathy. Currently, it is considered a variant of hyperkalemic periodic paralysis. Patients with normokalemic periodic paralysis do not have any change in their potassium levels during weakness, but become weak when they ingest potassium.|NCI|N|
C0268446|Thyrotoxic periodic paralysis (TPP) is a rare neurological disease characterized by recurrent episodes of paralysis and hypokalemia during a thyrotoxic state.|ORDO|N|
C0268448|Familial hypomagnesemia with hypercalciuria and nephrocalcinosis is a progressive renal disorder characterized by excessive urinary Ca(2+) and Mg(2+) excretion. There is progressive loss of kidney function, and in about 50% of cases, the need for renal replacement therapy arises as early as the second decade of life (summary by Muller et al., 2006). Amelogenesis imperfecta may also be present in some patients (Bardet et al., 2016).
A similar disorder with renal magnesium wasting, renal failure, and nephrocalcinosis (HOMG5; 248190) is caused by mutations in another tight-junction gene, CLDN19 (610036), and is distinguished by the association of severe ocular involvement.
For a discussion of phenotypic and genetic heterogeneity of familial hypomagnesemia, see HOMG1 (602014).|OMIM|N|
C0268450|Gitelman syndrome (GTLMNS) is an autosomal recessive renal tubular salt-wasting disorder characterized by hypokalemic metabolic alkalosis with hypomagnesemia and hypocalciuria. It is the most common renal tubular disorder among Caucasians (prevalence of 1 in 40,000). Most patients have onset of symptoms as adults, but some present in childhood. Clinical features include transient periods of muscle weakness and tetany, abdominal pains, and chondrocalcinosis (summary by Glaudemans et al., 2012). Gitelman syndrome is sometimes referred to as a mild variant of classic Bartter syndrome (607364).
For a discussion of genetic heterogeneity of Bartter syndrome, see 607364.|OMIM|N|
C0268464|A condition of not having consistently high levels of phenylalanine in the blood but of experiencing temporary hyperphenylalaninemia following ingestion of large quantities of phenylalanine (for instance, following an oral loading test with phenylalanine).|HPO|N|
C0268465|Tetrahydrobiopterin deficiency is a rare disorder characterized by a shortage (deficiency) of a molecule called tetrahydrobiopterin or BH4. This condition alters the levels of several substances in the body, including phenylalanine. Phenylalanine is a building block of proteins (an amino acid) that is obtained through the diet. It is found in foods that contain protein and in some artificial sweeteners. High levels of phenylalanine are present from early infancy in people with untreated tetrahydrobiopterin deficiency.  This condition also alters the levels of chemicals called neurotransmitters, which transmit signals between nerve cells in the brain.\n\nInfants with tetrahydrobiopterin deficiency appear normal at birth, but medical problems ranging from mild to severe become apparent over time. Signs and symptoms of this condition can include intellectual disability, progressive problems with development, movement disorders, difficulty swallowing, seizures, behavioral problems, and an inability to control body temperature.|MedlinePlus Genetics|N|
C0268467|Infants with tetrahydrobiopterin deficiency appear normal at birth, but medical problems ranging from mild to severe become apparent over time. Signs and symptoms of this condition can include intellectual disability, progressive problems with development, movement disorders, difficulty swallowing, seizures, behavioral problems, and an inability to control body temperature.\n\nTetrahydrobiopterin deficiency is a rare disorder characterized by a shortage (deficiency) of a molecule called tetrahydrobiopterin or BH4. This condition alters the levels of several substances in the body, including phenylalanine. Phenylalanine is a building block of proteins (an amino acid) that is obtained through the diet. It is found in foods that contain protein and in some artificial sweeteners. High levels of phenylalanine are present from early infancy in people with untreated tetrahydrobiopterin deficiency.  This condition also alters the levels of chemicals called neurotransmitters, which transmit signals between nerve cells in the brain.|MedlinePlus Genetics|N|
C0268468|The phenotypic spectrum of sepiapterin reductase deficiency (SRD), which ranges from significant motor and cognitive deficits to only minimal findings, has not been completely elucidated. Clinical features in the majority of affected individuals include motor and speech delay, axial hypotonia, dystonia, weakness, and oculogyric crises; symptoms show diurnal fluctuation and sleep benefit. Other common features include parkinsonian signs (tremor, bradykinesia, masked facies, rigidity), limb hypertonia, hyperreflexia, intellectual disability, psychiatric and/or behavioral abnormalities, autonomic dysfunction, and sleep disturbances (hypersomnolence, difficulty initiating or maintaining sleep, and drowsiness). Most affected individuals have nonspecific features in infancy including developmental delays and axial hypotonia; other features develop over time.|GeneReviews|N|
C0268472|An increased concentration of tryptophan in the urine.|HPO|N|
C0268474|Hydroxykynureninuria, also known as xanthurenicaciduria, is an autosomal recessive condition characterized by high urinary excretion of kynurenine (KYN), xanthurenic acid (XA) and 3-hydroxykynurenine (3-OHKYN), with no detectable anthranilic acid (AA) or 3-hydroxyanthranilic acid (3-OHAA) (Christensen et al., 2007).|OMIM|N|
C0268478|Blue Diaper syndrome is a hereditary metabolic disorder characterised by hypercalcaemia with nephrocalcinosis and indicanuria.|ORDO|N|
C0268483|An autosomal recessive inherited metabolic disorder caused by mutations in the FAH, HPD, and TAT genes. It is characterized by deficiency of one of the enzymes that are involved in the metabolism of tyrosine. It results in elevated blood tyrosine levels and accumulation of tyrosine and its byproducts in the liver, kidney, nervous system and other organs.|MONDO|N|
C0268485|Transient tyrosinemia of the newborn is a benign disorder of tyrosine metabolism detected upon newborn screening and often observed in premature infants. It shows no clinical symptoms. It is characterized by tyrosinemia, moderate hyperphenylalaninemia, and tyrosiluria that usually resolve after 2 months of age.|ORDO|N|
C0268486|An autosomal recessive inherited metabolic disorder caused by mutations in the FAH, HPD, and TAT genes. It is characterized by deficiency of one of the enzymes that are involved in the metabolism of tyrosine. It results in elevated blood tyrosine levels and accumulation of tyrosine and its byproducts in the liver, kidney, nervous system and other organs.|NCI|N|
C0268487|Tyrosinemia type II (TYRSN2) is an autosomal recessive disorder characterized by keratitis, painful palmoplantar hyperkeratosis, mental retardation, and elevated serum tyrosine levels. The disorder is caused by deficiency of hepatic tyrosine aminotransferase (Natt et al., 1992).|OMIM|N|
C0268490|Untreated tyrosinemia type I usually presents either in young infants with severe liver involvement or later in the first year with liver dysfunction and renal tubular dysfunction associated with growth failure and rickets. Untreated children may have repeated, often unrecognized, neurologic crises lasting one to seven days that can include change in mental status, abdominal pain, peripheral neuropathy, and/or respiratory failure requiring mechanical ventilation. Death in the untreated child usually occurs before age ten years, typically from liver failure, neurologic crisis, or hepatocellular carcinoma. Combined treatment with nitisinone and a low-tyrosine diet has resulted in a greater than 90% survival rate, normal growth, improved liver function, prevention of cirrhosis, correction of renal tubular acidosis, and improvement in secondary rickets.|GeneReviews|N|
C0268494|Oculocutaneous albinism is a genetically heterogeneous congenital disorder characterized by decreased or absent pigmentation in the hair, skin, and eyes. The term 'albinism' includes specific ocular changes that are the results of reduced amounts of melanin in the developing eye; these abnormalities in the eye and optic system are specific and necessary for the diagnosis. Aside from decreased pigment in the iris and retina, optic changes include decreased visual acuity, misrouting of the optic nerves at the chiasm, and nystagmus (King et al., 2001).
Although OCA caused by mutations in the TYR gene was classically known as 'tyrosinase-negative' OCA, Tripathi et al. (1992) noted that some patients with 'tyrosinase-positive' OCA may indeed have TYR mutations resulting in residual enzyme activity. These patients can be classified as having OCA1B.
Genetic Heterogeneity of Oculocutaneous Albinism
OCA1, caused by mutations in the TYR gene, is divided clinically into 2 types: type IA, OCA1A, characterized by complete lack of tyrosinase activity due to production of an inactive enzyme, and type IB (OCA1B; 606952), characterized by reduced activity of tyrosinase. OCA2 (203200), OCA3 (203290), and OCA4 (606574) are somewhat milder forms of the disorder, caused by mutations in the OCA2 (611409), TYRP1 (115501), and MATP (SLC45A2; 606202) genes, respectively. OCA5 (615312) has been mapped to chromosome 4q24. OCA6 (see 113750) is caused by mutation in the SLC24A5 gene (609802). OCA7 (615179) is caused by mutation in the LRMDA gene (614537). OCA8 (619165) is caused by mutation in the DCT gene (191275).
See also ocular albinism (OA1; 300500), which is restricted phenotypically to ocular involvement only.|OMIM|N|
C0268495|Tyrosinase-positive oculocutaneous albinism (OCA, type II; OCA2) is an autosomal recessive disorder in which the biosynthesis of melanin pigment is reduced in skin, hair, and eyes. Although affected infants may appear at birth to have OCA type I, or complete absence of melanin pigment, most patients with OCA type II acquire small amounts of pigment with age. Individuals with OCA type II have the characteristic visual anomalies associated with albinism, including decreased acuity and nystagmus, which are usually less severe than in OCA type I (Lee et al., 1994; King et al., 2001).
OCA type II has a highly variable phenotype. The hair of affected individuals may turn darker with age, and pigmented nevi or freckles may be seen. African and African American individuals may have yellow hair and blue-gray or hazel irides. One phenotypic variant, 'brown OCA,' has been described in African and African American populations and is characterized by light brown hair and skin color and gray to tan irides. The hair and irides may turn darker with time and the skin may tan with sun exposure; the ocular features of albinism are present in all variants (King et al., 2001). In addition, previous reports of so-called 'autosomal recessive ocular albinism,' (see, e.g., Witkop et al., 1978 and O'Donnell et al., 1978) with little or no obvious skin involvement, are now considered most likely to be part of the phenotypic spectrum of OCA1 or OCA2 (Lee et al., 1994; King et al., 2001).|OMIM|N|
C0268499|Autosomal dominant form of oculocutaneous albinism.|MONDO|N|
C0268503|Autosomal recessive form of ocular albinism (disease).|MONDO|N|
C0268505|Aland Island eye disease (AIED) is an X-linked recessive retinal disease characterized by fundus hypopigmentation, decreased visual acuity, nystagmus, astigmatism, protan color vision defect (303900), progressive myopia, and defective dark adaptation. Although AIED has been referred to as a form of albinism, there is no misrouting of the optic nerves, which excludes it from the formal diagnosis of classic albinism (King et al., 2001).|OMIM|N|
C0268512|An inherited metabolic disease that is has its basis in the disruption of histidine metabolic process.|MONDO|N|
C0268514|An increased concentration of urocanic acid in the urine.|HPO|N|
C0268518|An inherited metabolic disease that is has its basis in the disruption of glutathione metabolic process.|MONDO|N|
C0268523|A disorder that is principally characterized by hemolytic anemia, (usually rather mild), however, the presence of neurological symptoms has also been reported.|ORPHANET|N|
C0268524|Level of glutathione in the urine above the upper limit of normal.|HPO|N|
C0268525|5-Oxoprolinuria can be caused by genetic defects in either of 2 enzymes involved in the gamma-glutamyl cycle of glutathione metabolism: glutathione synthetase (GSS; 601002) or 5-oxoprolinase (OPLAH; 614243). GSS deficiency (266130) is best characterized as an inborn error of glutathione metabolism, but there is debate as to whether OPLAH deficiency represents a disorder or simply a biochemical condition with no adverse clinical effects because patients lack a consistent clinical picture apart from 5-oxoprolinuria (summary by Calpena et al., 2013).|OMIM|N|
C0268528|An increased concentration of proline in the blood.|HPO|N|
C0268529|Phang et al. (2001) noted that prospective studies of HPI probands identified through newborn screening as well as reports of several families have suggested that it is a metabolic disorder  not clearly associated with clinical manifestations. Phang et al. (2001) concluded that HPI is a relatively benign condition in most individuals under most circumstances. However, other reports have suggested that some patients have a severe phenotype with neurologic manifestations, including epilepsy and mental retardation (Jacquet et al., 2003).
Genetic Heterogeneity of Hyperprolinemia
See also hyperprolinemia type II (HYRPRO2; 239510), which is caused by mutation in the gene encoding pyrroline-5-carboxylate dehydrogenase (P5CDH, ALDH4A1; 606811) on chromosome 1p36.|OMIM|N|
C0268531|Hydroxyproline is an imino acid normally present in human plasma. It is derived primarily from endogenous collagen turnover and the breakdown of dietary collagen. The finding of elevated (5- to 10-fold increase from the normal of less than 50 micromoles) serum hydroxyproline is thought to be an inherited defect in the catabolism of hydroxyproline.|OMIM|N|
C0268532|Prolidase deficiency is characterized by skin lesions (typically severe, chronic, recalcitrant, and painful skin ulcers of the lower extremities and telangiectasias of the face and hands), recurrent infections (particularly of the skin and respiratory tract), dysmorphic facial features, variable intellectual disability, and organomegaly (typically splenomegaly but occasionally associated with hepatomegaly) with elevated liver enzymes. Skeletal anomalies, chronic pulmonary disease, anemia, thrombocytopenia, hypergammaglobulinemia, and hypocomplementemia are observed in a minority of affected individuals. An association between prolidase deficiency and autoimmune conditions – particularly systemic lupus erythematosus (SLE) – has been described.|GeneReviews|N|
C0268534|Level of proline in the urine anove the upper limit of normal.|HPO|N|
C0268540|Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome is a disorder of the urea cycle and ornithine degradation pathway. Clinical manifestations and age of onset vary among individuals even in the same family. Neonatal onset (~8% of affected individuals). Manifestations of hyperammonemia usually begin 24-48 hours after feeding begins and can include lethargy, somnolence, refusal to feed, vomiting, tachypnea with respiratory alkalosis, and/or seizures. Infantile, childhood, and adult onset (~92%). Affected individuals may present with: Chronic neurocognitive deficits (including developmental delay, ataxia, spasticity, learning disabilities, cognitive deficits, and/or unexplained seizures); Acute encephalopathy secondary to hyperammonemic crisis precipitated by a variety of factors; and Chronic liver dysfunction (unexplained elevation of liver transaminases with or without mild coagulopathy, with or without mild hyperammonemia and protein intolerance). Neurologic findings and cognitive abilities can continue to deteriorate despite early metabolic control that prevents hyperammonemia.|GeneReviews|N|
C0268542|Ornithine transcarbamylase (OTC) deficiency can occur as a severe neonatal-onset disease in males (but rarely in females) and as a post-neonatal-onset (also known as "late-onset" or partial deficiency) disease in males and females. Males with severe neonatal-onset OTC deficiency are asymptomatic at birth but become symptomatic from hyperammonemia in the first week of life, most often on day two to three of life, and are usually catastrophically ill by the time they come to medical attention. After successful treatment of neonatal hyperammonemic coma these infants can easily become hyperammonemic again despite appropriate treatment; they typically require liver transplant to improve quality of life. Males and heterozygous females with post-neonatal-onset (partial) OTC deficiency can present from infancy to later childhood, adolescence, or adulthood. No matter how mild the disease, a hyperammonemic crisis can be precipitated by stressors and become a life-threatening event at any age and in any situation in life. For all individuals with OTC deficiency, typical neuropsychological complications include developmental delay, learning disabilities, intellectual disability, attention-deficit/hyperactivity disorder, and executive function deficits.|GeneReviews|N|
C0268543|N-acetylglutamate synthase deficiency (NAGSD) is an autosomal recessive disorder of the urea cycle. The clinical and biochemical features of the disorder are indistinguishable from carbamoyl phosphate synthase I deficiency (237300), since the CPS1 enzyme (608307) has an absolute requirement for NAGS (Caldovic et al., 2007).|OMIM|N|
C0268546|A form of citrullinemia type I characterized clinically by adult onset of symptoms including variable hyperammonemia and less striking neurological findings which may include intense headache, scotomas, migraine-like episodes, ataxia, slurred speech, lethargy and drowsiness. Serious increased intracranial pressure may occur.|SNOMEDCT_US|N|
C0268547|Deficiency of argininosuccinate lyase (ASL), the enzyme that cleaves argininosuccinic acid to produce arginine and fumarate in the fourth step of the urea cycle, may present as a severe neonatal-onset form or a late-onset form: The severe neonatal-onset form is characterized by hyperammonemia within the first few days after birth that can manifest as increasing lethargy, somnolence, refusal to feed, vomiting, tachypnea, and respiratory alkalosis. Absence of treatment leads to worsening lethargy, seizures, coma, and even death. In contrast, the manifestations of late-onset form range from episodic hyperammonemia triggered by acute infection or stress to cognitive impairment, behavioral abnormalities, and/or learning disabilities in the absence of any documented episodes of hyperammonemia. Manifestations of ASL deficiency that appear to be unrelated to the severity or duration of hyperammonemic episodes: Neurocognitive deficiencies (attention-deficit/hyperactivity disorder, developmental delay, seizures, and learning disability). Liver disease (hepatitis, cirrhosis). Trichorrhexis nodosa (coarse brittle hair that breaks easily). Systemic hypertension.|GeneReviews|N|
C0268548|Arginase deficiency in untreated individuals is characterized by episodic hyperammonemia of variable degree that is infrequently severe enough to be life threatening or to cause death. Most commonly, birth and early childhood are normal. Untreated individuals have slowing of linear growth at age one to three years, followed by development of spasticity, plateauing of cognitive development, and subsequent loss of developmental milestones. If untreated, arginase deficiency usually progresses to severe spasticity, loss of ambulation, complete loss of bowel and bladder control, and severe intellectual disability. Seizures are common and are usually controlled easily. Individuals treated from birth, either as a result of newborn screening or having an affected older sib, appear to have minimal symptoms.|GeneReviews|N|
C0268553|Hyperlysinemia type I is an autosomal recessive metabolic condition with variable clinical features. Some patients who present in infancy with nonspecific seizures, hypotonia, or mildly delayed psychomotor development have been found to have increased serum lysine and pipecolic acid on laboratory analysis. However, about 50% of probands are reported to be asymptomatic, and hyperlysinemia is generally considered to be a benign metabolic variant (summary by Tondo et al., 2013; Houten et al., 2013).
The AASS gene encodes a bifunctional enzyme: lysine alpha-ketoglutarate reductase and saccharopine dehydrogenase. In hyperlysinemia type I, both enzymatic functions of AASS are defective; in hyperlysinemia type II, also known as saccharopinuria (268700), some of the first enzymatic function is retained (Cox, 1985; Cox et al., 1986).|OMIM|N|
C0268556|Saccharopinuria, also known as hyperlysinemia type II, is an autosomal recessive metabolic condition with few, if any, clinical manifestations. Hyperlysinemia type II and hyperlysinemia type I (238700) both result from deficiency of the bifunctional enzyme AASS (605113) on chromosome 7q31. The AASS gene encodes lysine alpha-ketoglutarate reductase and saccharopine dehydrogenase, which catalyze, respectively, the sequential conversion of lysine to saccharopine and saccharopine to alpha-aminoadipic semialdehyde and glutamate (summary by Tondo et al., 2013). In hyperlysinemia type I, both enzymatic functions of AASS are defective and patients have increased serum lysine and possibly increased saccharopine; in hyperlysinemia type II, most of the first enzymatic function is retained, and patients tend to have isolated saccharopine increase (Cox, 1985; Cox et al., 1986).|OMIM|N|
C0268558|A disease that has its basis in the disruption of glycine metabolic process.|MONDO|N|
C0268559|An elevated concentration of glycine in the blood.|HPO|N|
C0268563|Sarcosinemia is characterized by an increased concentration of sarcosine in plasma and an increased excretion of sarcosine in urine. Sarcosine (N-methylglycine) is enzymatically formed from dimethylglycine by dimethylglycine dehydrogenase (EC 1.5.99.2) and converted to glycine by sarcosine dehydrogenase (SARDH; 604455; EC 1.5.99.1). Some reports have associated sarcosinemia with mental retardation and neurologic problems, but the disorder is most likely benign and unrelated to significant clinical problems (summary by Scott, 2001).|OMIM|N|
C0268568|Maple syrup urine disease is often classified by its pattern of signs and symptoms. The most common and severe form of the disease is the classic type, which becomes apparent soon after birth. Variant forms of the disorder become apparent later in infancy or childhood and are typically milder, but they still lead to delayed development and other health problems if not treated.\n\nMaple syrup urine disease is an inherited disorder in which the body is unable to process certain protein building blocks (amino acids) properly. The condition gets its name from the distinctive sweet odor of affected infants' urine. It is also characterized by poor feeding, vomiting, lack of energy (lethargy), abnormal movements, and delayed development. If untreated, maple syrup urine disease can lead to seizures, coma, and death.|MedlinePlus Genetics|N|
C0268569|Intermittent maple syrup urine disease (intermittent MSUD) is a mild form of MSUD (see this term) where patients (when well) are asymptomatic with normal levels of branched-chain amino acids (BCAAs) but with catabolic stress are at risk of acute decompensation with ketoacidosis, which can lead to cerebral edema and coma if untreated.|ORDO|N|
C0268573|Valinemia is an inborn error of metabolism characterized clinically by vomiting, feeding difficulties, hypotonia, and developmental delay, and biochemically by high concentrations of valine in serum and urine (Wada, 1965).|OMIM|N|
C0268575|Isovaleric acidemia (IVA) is an inborn error of leucine metabolism caused by a deficiency of isovaleryl-CoA dehydrogenase. It can present with severe neonatal ketoacidosis leading to death, but in milder cases recurrent episodes of ketoacidosis of varying degree occur later in infancy and childhood (summary by Vockley et al., 1991).|OMIM|N|
C0268576|An increased concentration of leucine in the blood.|HPO|N|
C0268579|The spectrum of propionic acidemia (PA) ranges from neonatal-onset to late-onset disease. Neonatal-onset PA, the most common form, is characterized by a healthy newborn with poor feeding and decreased arousal in the first few days of life, followed by progressive encephalopathy of unexplained origin. Without prompt diagnosis and management, this is followed by progressive encephalopathy manifesting as lethargy, seizures, or coma that can result in death. It is frequently accompanied by metabolic acidosis with anion gap, lactic acidosis, ketonuria, hypoglycemia, hyperammonemia, and cytopenias. Individuals with late-onset PA may remain asymptomatic and suffer a metabolic crisis under catabolic stress (e.g., illness, surgery, fasting) or may experience a more insidious onset with the development of multiorgan complications including vomiting, protein intolerance, failure to thrive, hypotonia, developmental delays or regression, movement disorders, or cardiomyopathy. Isolated cardiomyopathy can be observed on rare occasion in the absence of clinical metabolic decompensation or neurocognitive deficits. Manifestations of neonatal and late-onset PA over time can include growth impairment, intellectual disability, seizures, basal ganglia lesions, pancreatitis, and cardiomyopathy. Other rarely reported complications include optic atrophy, hearing loss, premature ovarian insufficiency, and chronic renal failure.|GeneReviews|N|
C0268581|Holocarboxylase synthetase deficiency, a biotin-responsive multiple carboxylase deficiency (MCD), is characterized by metabolic acidosis, lethargy, hypotonia, convulsions, and dermatitis. Most patients present in the newborn or early infantile period, but some become symptomatic in the later infantile period (summary by Suzuki et al., 2005).
Also see biotinidase deficiency (253260), another form of MCD with a later onset.
Care must be taken to differentiate the inherited multiple carboxylase deficiencies from acquired biotin deficiencies, such as those that develop after excessive dietary intake of avidin, an egg-white glycoprotein that binds specifically and essentially irreversibly to biotin (Sweetman et al., 1981) or prolonged parenteral alimentation without supplemental biotin (Mock et al., 1981).|OMIM|N|
C0268583|For this GeneReview, the term "isolated methylmalonic acidemia" refers to a group of inborn errors of metabolism associated with elevated methylmalonic acid (MMA) concentration in the blood and urine that result from the failure to isomerize (convert) methylmalonyl-coenzyme A (CoA) into succinyl-CoA during propionyl-CoA metabolism in the mitochondrial matrix, without hyperhomocysteinemia or homocystinuria, hypomethioninemia, or variations in other metabolites, such as malonic acid. Isolated MMA is caused by complete or partial deficiency of the enzyme methylmalonyl-CoA mutase (mut0 enzymatic subtype or mut– enzymatic subtype, respectively), a defect in the transport or synthesis of its cofactor, 5-deoxy-adenosyl-cobalamin (cblA, cblB, or cblD-MMA), or deficiency of the enzyme methylmalonyl-CoA epimerase. Prior to the advent of newborn screening, common phenotypes included: Infantile/non-B12-responsive form (mut0 enzymatic subtype, cblB), the most common phenotype, associated with infantile-onset lethargy, tachypnea, hypothermia, vomiting, and dehydration on initiation of protein-containing feeds. Without appropriate treatment, the infantile/non-B12-responsive phenotype could rapidly progress to coma due to hyperammonemic encephalopathy. Partially deficient or B12-responsive phenotypes (mut– enzymatic subtype, cblA, cblB [rare], cblD-MMA), in which symptoms occur in the first few months or years of life and are characterized by feeding problems, failure to thrive, hypotonia, and developmental delay marked by episodes of metabolic decompensation. Methylmalonyl-CoA epimerase deficiency, in which findings range from complete absence of symptoms to severe metabolic acidosis. Affected individuals can also develop ataxia, dysarthria, hypotonia, mild spastic paraparesis, and seizures. In those individuals diagnosed by newborn screening and treated from an early age, there appears to be decreased early mortality, less severe symptoms at diagnosis, favorable short-term neurodevelopmental outcome, and lower incidence of movement disorders and irreversible cerebral damage. However, secondary complications may still occur and can include intellectual disability, tubulointerstitial nephritis with progressive impairment of renal function, "metabolic stroke" (bilateral lacunar infarction of the basal ganglia during acute metabolic decompensation), pancreatitis, growth failure, functional immune impairment, bone marrow failure, optic nerve atrophy, arrhythmias and/or cardiomyopathy (dilated or hypertrophic), liver steatosis/fibrosis/cancer, and renal cancer.|GeneReviews|N|
C0268594|The concentration of glutaric acid in the urine, normalized for urine concentration, is above the upper limit of normal.|HPO|N|
C0268595|The phenotypic spectrum of untreated glutaric acidemia type 1 (GA-1) ranges from the more common form (infantile-onset disease) to the less common form (later-onset disease – i.e., after age 6 years). Of note, the GA-1 phenotype can vary widely between untreated family members with the same genotype, primarily as a function of the age at which the first acute encephalopathic crisis occurred: three months to six years in infantile-onset GA-1 and after age six years in later-onset GA-1. Characteristically these crises result in acute bilateral striatal injury and subsequent complex movement disorders. In the era of newborn screening (NBS), the prompt initiation of treatment of asymptomatic infants detected by NBS means that most individuals who would have developed manifestations of either infantile-onset or later-onset GA-1 remain asymptomatic; however, they may be at increased risk for other manifestations (e.g., renal disease) that are becoming apparent as the understanding of the natural history of treated GA-1 continues to evolve.|GeneReviews|N|
C0268596|Multiple acyl-CoA dehydrogenase deficiency (MADD) represents a clinical spectrum in which presentations can be divided into type I (neonatal onset with congenital anomalies), type II (neonatal onset without congenital anomalies), and type III (late onset). Individuals with type I or II MADD typically become symptomatic in the neonatal period with severe metabolic acidosis, which may be accompanied by profound hypoglycemia and hyperammonemia. Many affected individuals die in the newborn period despite metabolic treatment. In those who survive the neonatal period, recurrent metabolic decompensation resembling Reye syndrome and the development of hypertrophic cardiomyopathy can occur. Congenital anomalies may include dysmorphic facial features, large cystic kidneys, hypospadias and chordee in males, and neuronal migration defects (heterotopias) on brain MRI. Individuals with type III MADD, the most common presentation, can present from infancy to adulthood. The most common symptoms are muscle weakness, exercise intolerance, and/or muscle pain, although metabolic decompensation with episodes of rhabdomyolysis can also be seen. Rarely, individuals with late-onset MADD (type III) may develop severe sensory neuropathy in addition to proximal myopathy.|GeneReviews|N|
C0268600|3-Methylcrotonylglycinuria is an autosomal recessive disorder of leucine catabolism. The clinical phenotype is highly variable, ranging from neonatal onset with severe neurologic involvement to asymptomatic adults. There is a characteristic organic aciduria with massive excretion of 3-hydroxyisovaleric acid and 3-methylcrotonylglycine, usually in combination with a severe secondary carnitine deficiency. MCC activity in extracts of cultured fibroblasts of patients is usually less than 2% of control (summary by Baumgartner et al., 2001).
Also see 3-methylcrotonylglycinuria II (MCC2D; 210210), caused by mutation in the beta subunit of 3-methylcrotonyl-CoA carboxylase (MCCC2; 609014).|OMIM|N|
C0268601|3-Hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) is a rare autosomal recessive disorder with the cardinal manifestations of metabolic acidosis without ketonuria, hypoglycemia, and a characteristic pattern of elevated urinary organic acid metabolites, including 3-hydroxy-3-methylglutaric, 3-methylglutaric, and 3-hydroxyisovaleric acids. Urinary levels of 3-methylcrotonylglycine may be increased. Dicarboxylic aciduria, hepatomegaly, and hyperammonemia may also be observed. Presenting clinical signs include irritability, lethargy, coma, and vomiting (summary by Gibson et al., 1988).|OMIM|N|
C0268603|Acetyl-CoA carboxylase-alpha deficiency (ACACAD) is an autosomal recessive disorder characterized by hypotonia and global developmental delay (summary by Shafieipour et al., 2023).|OMIM|N|
C0268609|Glutamate formiminotransferase deficiency is an autosomal recessive disorder and the second most common inborn error of folate metabolism. Features of a severe phenotype include elevated levels of formiminoglutamate (FIGLU) in the urine in response to histidine administration, megaloblastic anemia, and mental retardation. Features of a mild phenotype include high urinary excretion of FIGLU in the absence of histidine administration, mild developmental delay, and no hematologic abnormalities (summary by Hilton et al., 2003).|OMIM|N|
C0268611|A rare autosomal dominant inherited metabolic disorder characterized by deficiency of the enzyme tetrahydrofolate-methyltransferase. It results in the abnormal metabolism of methylcobalamin. Signs and symptoms include mental retardation, megaloblastic anemia, hypotonia, epilepsy, and hepatosplenomegaly.|NCI|N|
C0268615|A rare disorder associated with mental retardation, spasticity, and early death.|NCI|N|
C0268618|An increased concentration of cystathionine in the blood.|HPO|N|
C0268621|Methionine adenosyltransferase deficiency is an inborn error of metabolism resulting in isolated hypermethioninemia. Most patients have no clinical abnormalities, although some with the autosomal recessive form have have neurologic abnormalities (Mudd et al., 2003; Kim et al., 2016).|OMIM|N|
C0268623|Tyrosinemia type III (TYRSN3), an autosomal recessive disorder caused by a deficiency in the activity of 4-hydroxyphenylpyruvate dioxygenase (HPD), is characterized by elevated levels of blood tyrosine and massive excretion of its derivatives into urine. Patients with this disorder have mildly impaired intellectual development and/or convulsions, with the absence of liver damage (summary by Tomoeda et al., 2000).|OMIM|N|
C0268624|The spectrum of isolated sulfite oxidase deficiency ranges from classic early-onset (severe) disease to late-onset (mild) disease. Classic ISOD is characterized in the first few hours to days of life by intractable seizures, feeding difficulties, and rapidly progressive encephalopathy manifest as abnormal tone (especially opisthotonus, spastic quadriplegia, and pyramidal signs) followed by progressive microcephaly and profound intellectual disability. Lens subluxation or dislocation, another characteristic finding, may be evident after the newborn period. Children usually die during the first few months of life. Late-onset ISOD manifests between ages six and 18 months and is characterized by ectopia lentis (variably present), developmental delay/regression, movement disorder characterized by dystonia and choreoathetosis, ataxia, and (rarely) acute hemiplegia as a result of metabolic stroke. The clinical course may be progressive or episodic. In the episodic form encephalopathy, dystonia, choreoathetosis, and/or ataxia are intermittent.|GeneReviews|N|
C0268626|Cystinosis comprises three allelic phenotypes: Nephropathic cystinosis in untreated children is characterized by renal Fanconi syndrome, poor growth, hypophosphatemic/calcipenic rickets, impaired glomerular function resulting in complete glomerular failure, and accumulation of cystine in almost all cells, leading to cellular dysfunction with tissue and organ impairment. The typical untreated child has short stature, rickets, and photophobia. Failure to thrive is generally noticed after approximately age six months; signs of renal tubular Fanconi syndrome (polyuria, polydipsia, dehydration, and acidosis) appear as early as age six months; corneal crystals can be present before age one year and are always present after age 16 months. Prior to the use of renal transplantation and cystine-depleting therapy, the life span in nephropathic cystinosis was no longer than ten years. With these interventions, affected individuals can survive at least into the mid-forties or fifties with satisfactory quality of life. Intermediate cystinosis is characterized by all the typical manifestations of nephropathic cystinosis, but onset is at a later age. Renal glomerular failure occurs in all untreated affected individuals, usually between ages 15 and 25 years. The non-nephropathic (ocular) form of cystinosis is characterized clinically only by photophobia resulting from corneal cystine crystal accumulation.|GeneReviews|N|
C0268630|An increased concentration of alanine in the blood.|HPO|N|
C0268631|Succinic semialdehyde dehydrogenase (SSADH) deficiency is characterized by infantile-onset hypotonia, developmental delay, cognitive impairment, expressive language deficit, and mild ataxia. Epilepsy is present in about half of affected individuals and is more common in adults. Hyperkinetic behavior, aggression, self-injurious behaviors, hallucinations, and sleep disturbances have been reported in nearly half of all affected individuals, more commonly in those who are older. Basal ganglia signs including choreoathetosis, dystonia, and myoclonus have been reported in a few individuals with earlier-onset, more severe disease. Involvement beyond the central nervous system has not been described. Individuals with SSADH deficiency typically have 4-hydroxybutyric aciduria present on urine organic acid analysis. Head MRI reveals T2 hyperintensities in multiple regions, involving the globus pallidi, cerebellar dentate nuclei, subthalamic nuclei, subcortical white matter, and brain stem, as well as cerebral and sometimes cerebellar atrophy. EEG findings include background slowing and spike discharges that are usually generalized.|GeneReviews|N|
C0268632|Homocarnosinosis, an elevation of homocarnosine, is a biochemical aberration of unknown significance. Only one such family has been reported (Sjaastad et al., 2018).
Homocarnosinosis was previously thought to be a disorder characterized by marked elevation of homocarnosine in the cerebrospinal fluid along with spastic paraplegia, impaired intellectual development, and retinal pigmentation based on the report of one Norwegian family reported by Sjaastad et al. (1976). Sjaastad et al. (2018) performed genetic analysis postmortem in this family and identified a homozygous mutation in the SPG11 gene (610844). A reevaluation of the clinical symptoms and findings in the family correlated with spastic paraplegia-11 (SPG11; 604360). A study of other patients with SPG11 did not find elevated levels of homocarnosine.|OMIM|N|
C0268634|A group of genetic disorders that result from the inability to produce or use an enzyme required to oxidize fatty acids, resulting in an inability to generate energy from fatty acid sources.|NCI|N|
C0268642|A rare disorder of histidine metabolism characterized by histidinuria without histidinemia due to impaired intestinal and renal tubular absorption of histidine. Developmental delay, intellectual disability, seizures, and mild dysmorphic features have been reported in association. There have been no further descriptions in the literature since 1992.|ORDO|N|
C0268647|Lysinuric protein intolerance (LPI) typically presents after an infant is weaned from breast milk or formula; variable findings include recurrent vomiting and episodes of diarrhea, episodes of stupor and coma after a protein-rich meal, poor feeding, aversion to protein-rich food, failure to thrive, hepatosplenomegaly, and muscular hypotonia. Over time, findings include: poor growth, osteoporosis, involvement of the lungs (progressive interstitial changes, pulmonary alveolar proteinosis) and of the kidneys (progressive glomerular and proximal tubular disease), hematologic abnormalities (normochromic or hypochromic anemia, leukopenia, thrombocytopenia, erythroblastophagocytosis in the bone marrow aspirate), and a clinical presentation resembling the hemophagocytic lymphohistiocytosis/macrophagic activation syndrome. Hypercholesterolemia, hypertriglyceridemia, and acute pancreatitis can also be seen.|GeneReviews|N|
C0268654|The imino acids, proline and hydroxyproline, share a renal tubular reabsorptive mechanism with glycine. Iminoglycinuria (IG), a benign inborn error of amino acid transport, is also a normal finding in neonates and infants under 6 months of age (Chesney, 2001). Early studies of families with iminoglycinuria suggested genetic complexity, with homozygotes developing IG and heterozygotes manifesting only hyperglycinuria (HG; 138500) (summary by Broer et al., 2008).
Iminoglycinuria also occurs as part of the generalized amino aciduria of the Fanconi renotubular syndrome (134600).|OMIM|N|
C0268689|Vitamin D-dependent rickets is a disorder of bone development that leads to softening and weakening of the bones (rickets). There are several forms of the condition that are distinguished primarily by their genetic causes: type 1A (VDDR1A), type 1B (VDDR1B), and type 2A (VDDR2A). There is also evidence of a very rare form of the condition, called type 2B (VDDR2B), although not much is known about this form.\n\nThe signs and symptoms of vitamin D-dependent rickets begin within months after birth, and most are the same for all types of the condition. The weak bones often cause bone pain and delayed growth and have a tendency to fracture. When affected children begin to walk, they may develop abnormally curved (bowed) legs because the bones are too weak to bear weight. Impaired bone development also results in widening of the areas near the ends of bones where new bone forms (metaphyses), especially in the knees, wrists, and ribs. Some people with vitamin D-dependent rickets have dental abnormalities such as thin tooth enamel and frequent cavities. Poor muscle tone (hypotonia) and muscle weakness are also common in this condition, and some affected individuals develop seizures.\n\nHair loss (alopecia) can occur in VDDR2A, although not everyone with this form of the condition has alopecia. Affected individuals can have sparse or patchy hair or no hair at all on their heads. Some affected individuals are missing body hair as well.\n\nIn vitamin D-dependent rickets, there is an imbalance of certain substances in the blood. An early sign in all types of the condition is low levels of the mineral calcium (hypocalcemia), which is essential for the normal formation of bones and teeth. Affected individuals also develop high levels of a hormone involved in regulating calcium levels called parathyroid hormone (PTH), which leads to a condition called secondary hyperparathyroidism. Low levels of a mineral called phosphate (hypophosphatemia) also occur in affected individuals. Vitamin D-dependent rickets types 1 and 2 can be grouped by blood levels of a hormone called calcitriol, which is the active form of vitamin D; individuals with VDDR1A and VDDR1B have abnormally low levels of calcitriol and individuals with VDDR2A and VDDR2B have abnormally high levels.|MedlinePlus Genetics|N|
C0268708|Neuropathy resulting from uremia.|NCI|N|
C0268731|Inflammatory or noninflammatory diseases affecting the glomeruli of the nephron.|HPO|N|
C0268732|A syndrome characterized by hematuria with dysmorphic red blood cells, red blood cell casts, and proteinuria; systemic manifestations may be present, including hypertension, edema, oliguria.|NCI|N|
C0268742|Glomerulonephritis characterized by mesangial proliferation, endocapillary proliferation, and glomerular capillary wall remodeling with immune complex deposits from classical complement pathway activation.|NCI|N|
C0268743|C3 glomerulopathy (C3G) is a complex ultra-rare complement-mediated renal disease caused by uncontrolled activation of the complement alternative pathway (AP) in the fluid phase (as opposed to cell surface) that is rarely inherited in a simple mendelian fashion. C3G affects individuals of all ages, with a median age at diagnosis of 23 years. Individuals with C3G typically present with hematuria, proteinuria, hematuria and proteinuria, acute nephritic syndrome or nephrotic syndrome, and low levels of the complement component C3. Spontaneous remission of C3G is uncommon, and about half of affected individuals develop end-stage renal disease (ESRD) within ten years of diagnosis, occasionally developing the late comorbidity of impaired visual acuity.|GeneReviews|N|
C0268744|Glomerulonephritis characterized by proliferation of endothelial or mesangial cells, affecting the glomeruli in a focal and segmental pattern.|NCI|N|
C0268747|Diffuse sclerosis of the mesangium, as manifestated by diffuse mesangial matrix expansion.|HPO|N|
C0268749|Glomerulonephritis characterized by the presence of Congo-red negative microfibrils in the mesangium and capillary walls of the glomeruli. It is associated with marked proteinuria and leads to progressive renal failure.|NCI|N|
C0268769|Chronic kidney disease resulting from deposition of urate crystals or microtophi in the medullary interstitium.|NCI|N|
C0268790|A non-neoplastic kidney disorder that results from the damage of the renal arteries or veins. It may lead to renal dysfunction and/or hypertension.|NCI|N|
C0268792|A cholesterol embolism that involves the kidney.|MONDO|N|
C0268800|An isolated cyst of the kidney.|HPO|N|
C0268813|Diabetes insipidus caused by excessive intake of water due to psychological factors or damage to the thirst-regulating mechanism.|NCI|N|
C0268830|Inflammation of both the urethra and the trigone of the urinary bladder.|NCI|N|
C0268837|A reactive inflammatory disorder affecting the bladder. It is characterized by the development of small cysts in the bladder wall. The cysts are lined by metaplastic glandular cells.|NCI|N|
C0268842|An aberrant, pathological communication between the colon and the bladder.|HPO|N|
C0268843|An aberrant, pathological communication between the rectum and the bladder.|HPO|N|
C0268875|An abnormal connection (fistula) between the rectum and the urethra.|HPO|N|
C0268877|A cystic lesion located in the urethra.|NCI|N|
C0268885|A benign neoplasm arising from soft tissue of the prostate. It is characterized by the presence of spindle-shaped fibroblasts.|NCI|N|
C0268889|Squeezing of the urethra secondary to enlargement of the prostate gland, resulting in voiding symptoms (straining to void, slow urine stream, and incomplete emptying of the bladder).|NCI|N|
C0268891|Bleeding originating from the prostate gland.|NCI|N|
C0268912|Bleeding originating from the vas deferens.|NCI|N|
C0268919|A disease or disorder that involves the scrotum.|MONDO|N|
C0268940|Bleeding originating from the spermatic cord.|NCI|N|
C0268969|Bleeding originating from the testis.|NCI|N|
C0269011|Penile length more than 2 SD above the mean for age.|HPO|N|
C0269038|Acute inflammation of the fallopian tube. It is most often caused by Neisseria gonorrhoeae and Chlamydia trachomatis infections. The infections usually originate in the vagina and ascend to the fallopian tube. Symptoms include abdominal, pelvic, and lower back pain, pain during ovulation and sexual intercourse, fever, nausea, and vomiting. Complications include infertility and ectopic pregnancy.|NCI|N|
C0269041|Chronic inflammation of the fallopian tube. It usually follows an acute inflammatory attack.|NCI|N|
C0269043|Formation of nodules in the isthmus of the fallopian tube due to fallopian tube diverticulosis. It may cause infertility or ectopic pregnancy.|NCI|N|
C0269050|An inflammation of the endometrium and the myometrium.|MONDO|N|
C0269061|Acute inflammation of the cervix. Clinical manifestations include mucopurulent vaginal discharge and burning sensation.|NCI|N|
C0269062|Chronic inflammation of the cervix.|NCI|N|
C0269084|Inflammation of the vulvar vestibular region at the entrance of the VAGINA, generally involving surface mucosa and submucosal vestibular glands. It is characterized by ERYTHEMA and chronic recurrent pain in this area.|MSH|N|
C0269102|A cystic form of endometriosis affecting the ovary. It may or may not be associated with endometriosis in other areas in the pelvis.|NCI|N|
C0269106|A rare condition characterized by the replacement of the epithelium of an organ which is not related to fallopian tube with ectopic fallopian tube-type ciliated epithelium.|NCI|N|
C0269107|Abnormal growth of endometrial cells (which are normally limited to the uterus) within the cervix.|HPO|N|
C0269131|An abnormal communication between a female reproductive system organ and another organ or cavity.|NCI|N|
C0269133|The presence of a fistula between the vagina and the urethra.|HPO|N|
C0269164|Tearing or disruption of the ovarian tissue.|NCI|N|
C0269169|A twisting of the Fallopian tube. Sudden onset with sharp, colicky pelvic pain associated with nausea, vomiting, bowel, and bladder symptoms is the usual presentation.|HPO|N|
C0269173|A fluid filled sac located in the Fallopian tube.|HPO|N|
C0269185|A condition in which the UTERUS is found tilted backward toward the spine. The uterus is more commonly found in a straight vertical or anteverted (tipped forward) position. Although retroverted uterus is a normal variant position without symptoms, it is sometimes associated with pain, discomfort and other pregnancy complications.|MSH|N|
C0269188|A closed sack of tissue (cyst) located in the uterus.|HPO|N|
C0269189|Cervical ectropion occurs when eversion of the endocervix exposes columnar epithelium to the vaginal milieu|HPO|N|
C0269190|The process in which the cervical glandular epithelium is replaced with squamous epithelium.|NCI|N|
C0269192|Irregularity or alteration from normal cervical tissue. The spatial orientation of the cervical cells is often aberrant due to the lack of an organized growth process. 2005|NCI|N|
C0269194|The presence of whitish patches on the mucosal surface of the cervix. Histologic examination reveals hyperkeratosis. In a minority of cases, underlying dysplasia or carcinoma in situ is present.|NCI|N|
C0269202|A cyst in the uterine cervix.|NCI|N|
C0269208|A narrowing of the vagina owing to scar formation.|HPO|N|
C0269209|Hydrometrocolpos is an accumulation of uterine and vaginal secretions as well as menstrual blood in the uterus and vagina.|HPO|N|
C0269214|Vaginal adenosis is defined by the presence of metaplastic cervical or endometrial epithelium within the vaginal wall, thought to be derived from persistent Müllerian (synonymous with paramesonephric) epithelium islets in postembryonic life.|HPO|N|
C0269218|A benign polypoid lesion that arises from the vulva.|NCI|N|
C0269252|A morphologic finding indicating the transformation of the epithelial cells in a breast tissue sample to cells with abundant eosinophilic cytoplasm.|NCI|N|
C0269269|The presence of nipples that instead of pointing outward are retracted inwards.|HPO|N|
C0269286|An abnormal pregnancy in which the conception is implanted and develops in the cornu of uterus.|NCI|N|
C0269291|MULTIPLE PREGNANCY with EMBRYO IMPLANTATION occuring at different locations, involving both an intrauterine site and an extrauterine (ECTOPIC PREGNANCY) site.|MSH|N|
C0269388|Pregnancy loss at less than 14 weeks 0 days gestation.|NCI|N|
C0269389|Pregnancy loss between 14 weeks 0 days and 21 weeks 6 days gestation.|NCI|N|
C0269596|Bleeding occurring during pregnancy.|NCI|N|
C0269608|Significant maternal hemorrhage/bleed in the second half of pregnancy and prior to the birth of the baby.|HPO|N|
C0269658|A pre-eclampsia characterized by the presence of hypertension without evidence of end-organ damage, in a woman who was normotensive before 20 weeks' gestation.|MONDO|N|
C0269672|In a woman with a normal weight pre-pregnancy body mass index (BMI), i.e. 18.5-24.9, the weight gained during pregnancy exceeds a total weight gain of 35 lbs. In a woman with an underweight pre-pregnancy body mass index (BMI), i.e. less than 18.5, the weight gained during pregnancy exceeds a total weight gain of 40 lbs. In a woman with an overweight pre-pregnancy body mass index (BMI), i.e. 25.0-29.9, the weight gained during pregnancy exceeds a total weight gain of 25 lbs. In a woman with an obese pre-pregnancy body mass index (BMI), i.e. greater than 30, the weight gained during pregnancy exceeds a total weight gain of 20 lbs. These standards are supported for the whole population irrespective of height, race or ethnicity.|NCI|N|
C0269680|A rare skin disease characterized by urticarial papules and plaques with severe pruritus mainly on the abdomen, buttocks, and proximal thighs. The condition usually develops during the third trimester of the first pregnancy, although presentation in the postpartum period, which may also feature other types of skin lesions, has been described in some cases. The symptoms generally resolve within few weeks.|ORDO|N|
C0269734|Tipped UTERUS during pregnancy.|MSH|N|
C0269792|Foetal death after 22 week gestation affecting management of mother|SNOMEDCT_US|N|
C0269800|The discharge of amniotic fluid vaginally due to a tear or rupture in the amniotic membrane.|NCI|N|
C0269802|An amnion with nodular deposits of squamous and cellular debris with varying staging of re-epithelialization.|NCI|N|
C0269815|The occurrence of a pregnancy complication during childbirth, which includes both labor (the process of childbirth) and delivery (the birth itself).|NCI|N|
C0269825|Shoulder dystocia occurs when the fetal anterior shoulder impacts against the maternal symphysis following delivery of the vertex.|HPO|N|
C0269841|A single uterine contraction lasting greater than 2 minutes.|NCI|N|
C0269845|A situation in which the umbilical cord is ahead of the presenting fetal part. If the cord becomes compressed it may cut off the flow of blood to the baby.|NCI|N|
C0269852|Vasa previa occurs when the membranes that contain the umbilical cord traverse the membranes overlying the internal os of the cervix. There is a high risk of fetal mortality if not identified perinatally.|HPO|N|
C0269855|Bleeding from the vessels of the cord with extravasation of blood into the Wharton jelly surrounding the umbilical cord vessels.|HPO|N|
C0269886|A complication of OBSTETRIC LABOR in which the corpus of the UTERUS is forced completely or partially through the UTERINE CERVIX. This can occur during the late stages of labor and is associated with IMMEDIATE POSTPARTUM HEMORRHAGE.|MSH|N|
C0269899|Cumulative blood loss of greater than or equal to 1000 ML or blood loss accompanied by signs or symptoms of hypovolemia within 24 hours following the birth process (includes intrapartum loss). (reVITALize)|NCI|N|
C0269932|Infection of the endometrium, decidua and/or myometrium occurring at any time between birth and 42 days postpartum.|NCI|N|
C0270075|A non-neoplastic or neoplastic disorder occurring during the period from about five months before birth to one month after birth.|NCI|N|
C0270078|An infant born before 28 completed weeks of gestation.|SNOMEDCT_US|N|
C0270148|Episodes of cyanosis during the perinatal period.|NCI|N|
C0270149|A pathological increase in the effort and frequency or breathing movements during the perinatal period.|NCI|N|
C0270173|A syndrome that results from a group of infections that affect the fetus or the newborn. The group of infections includes Toxoplasma gondii, rubella, cytomegalovirus, herpes simplex virus, and other infections. The other infections include varicella-zoster virus, hepatitis B virus, human immunodeficiency virus, parvovirus B19, and syphilis. Signs and symptoms include fever, feeding difficulties, petechial rash, jaundice, hepatosplenomegaly, chorioretinitis, and microcephaly.|NCI|N|
C0270178|Inflammation of the lacrimal sac in a newborn due to blocked drainage of tears or infection.|NCI|N|
C0270191|Bleeding within the cerebral ventricles occurring around the time of birth.|NCI|N|
C0270202|A condition of the newborn characterized by the destruction of red blood cells initiated by the transmission of anti-A or anti-B antibodies from a mother to the child via the placenta against A or B antigens of the newborn''s blood.|NCI|N|
C0270204|Encephalopathy in infants due to high levels of unconjugated bilirubin that are a result of Rh incompatibility between the mother and the fetus.|NCI|N|
C0270210|A rare genetic hepatic disease characterized by very high serum bilirubin levels in a newborn, clinically presenting as jaundice during the first few days of life. The condition is usually self-resolving, although in some cases it can lead to kernicterus with corresponding symptoms (including lethargy, high-pitched crying, hypotonia, missing reflexes, vomiting, or seizures, among others), which may result in chronic disability and even death.|ORDO|N|
C0270215|Jaundice in an otherwise healthy breast-fed newborn. It appears four to seven days after birth, lasts longer than the physiologic jaundice, and there are no identifiable causes.|NCI|N|
C0270217|A syndrome characterized by persistent jaundice, hemolytic anemia, and hepatomegaly in a newborn. It is characterized by the presence of inspissated bile plugs in the bile ducts.|NCI|N|
C0270221|An infant that was born to a mother who persistently had high glucose blood levels during pregnancy. The infants of diabetic mothers are large for their gestational age and may develop hypoglycemic episodes soon after birth.|NCI|N|
C0270246|A transient colonic dysfunction in the newborn characterized by the delayed passage of meconium and associated intestinal dilatation.|NCI|N|
C0270250|Peritonitis caused by intrauterine intestinal rupture and spillage of fetal meconium into the fetal peritoneal cavity. Intra-peritoneal meconium usually calcifies, sometimes within 24 hours. Ultrasound findings may include intraabdominal calcifications.|HPO|N|
C0270254|An abnormality of the placenta in which there are numerous cystic spaces within the placenta as well as placental enlargement.|HPO|N|
C0270276|A disorder observed in a newborn who was exposed to chloramphenicol. Manifestations include hypotension, cyanosis, cardiovascular collapse and/or death.|NCI|N|
C0270327|Nocturnal enuresis, or nightly bedwetting in children more than 7 years of age, affects about 10% of 7-year-old children, with a wide range of frequencies between populations. The affliction is often linked to major social maladjustments and occupies considerable time in general medical practice. From the age of 7, there is a spontaneous cure rate of 15% per year, such that few remain affected after the age of 16 years. There are 2 types of nocturnal enuresis: type I, the primary form (PNE), with at least 3 nightly episodes in children older than 7 years, where the child has always had the disorder, and type II, or secondary type, where the child has been dry for at least 6 months but enuresis has recurred (summary by Eiberg et al., 1995).
Genetic Heterogeneity of Nocturnal Enuresis
ENUR1 has been mapped to chromosome 13q, and ENUR2 has been mapped to chromosome 12q.|OMIM|N|
C0270328|Involuntary discharge of URINE during the daytime while one is awake.|MSH|N|
C0270549|An anxiety disorder characterized by excessive and difficult-to-control worry about a number of life situations. The worry is accompanied by restlessness, fatigue, inability to concentrate, irritability, muscle tension, and/or sleep disturbance and lasts for at least 6 months.|NCI|N|
C0270612|This term describes abnormality of the white matter of the cerebrum resulting from damage to the myelin sheaths of nerve cells.|HPO|N|
C0270627|A rare inflammatory demyelinating disorder of the spinal cord that can be either idiopathic (IATM) or secondary to a known cause (SATM).|ORDO|N|
C0270629|Circumscribed collections of suppurative material occurring in the spinal or intracranial epidural space. The majority of epidural abscesses occur in the spinal canal and are associated with osteomyelitis of a vertebral body; analgesia, epidural; and other conditions. Clinical manifestations include local and radicular pain, weakness, sensory loss, urinary incontinence, and fecal incontinence. Cranial epidural abscesses are usually associated with osteomyelitis of a cranial bone, sinusitis, or otitis media. (From Adams et al., Principles of Neurology, 6th ed, p710 and pp1240-1; J Neurol Neurosurg Psychiatry 1998 Aug;65(2):209-12)|MONDO|N|
C0270639|Formation or presence of a blood clot (thrombus) in the lateral sinuses. This condition is often associated with ear infections (otitis media or mastoiditis) without antibiotic treatment. In developed nations, lateral sinus thrombosis can result from craniocerebral trauma; brain neoplasms; neurosurgical procedures; thrombophilia; and other conditions. Clinical features include headache; vertigo; and increased intracranial pressure.|MONDO|N|
C0270685|The presence of calcium deposition within the cerebrum.|HPO|N|
C0270691|A cerebrospinal fluid-filled pouch or sac-like protrusion of the arachnoid, dura mater, or nerve root sheath which may contain neural tissue.|NCI|N|
C0270697|Headache in erect position, after lumbar puncture; due to lowering of intracranial pressure by leakage of cerebrospinal fluid through the needle tract.|NCI|N|
C0270707|A rare neurologic disease characterized by visual agnosia, hyperorality (strong tendency to examine objects orally), hypermetamorphosis (described as the irresistible impulse to notice and react to everything within sight), hypersexuality, changes in dietary habits and hyperphagia, placidity, and amnesia, due to bilateral lesions of the temporal lobe including the hippocampus and amygdala.|ORDO|N|
C0270709|Ichthyosis (usually present from infancy), mental retardation, epileptic seizures, hypogonadism with eunuchoid appearance, and occasional short stature. The male/female ratio is 2:1.|JABL|N|
C0270715|A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function.|NCI|N|
C0270719|A language disorder in mentally retarded but educable children who have the ability to learn words and to talk, without knowing what they are talking about. They love to chatter, but think illogically.|JABL|N|
C0270724|PLA2G6-associated neurodegeneration (PLAN) comprises a continuum of three phenotypes with overlapping clinical and radiologic features: Infantile neuroaxonal dystrophy (INAD). Atypical neuroaxonal dystrophy (atypical NAD). PLA2G6-related dystonia-parkinsonism. INAD usually begins between ages six months and three years with psychomotor regression or delay, hypotonia, and progressive spastic tetraparesis. Many affected children never learn to walk or lose the ability shortly after attaining it. Strabismus, nystagmus, and optic atrophy are common. Disease progression is rapid, resulting in severe spasticity, progressive cognitive decline, and visual impairment. Many affected children do not survive beyond their first decade. Atypical NAD shows more phenotypic variability than INAD. In general, onset is in early childhood but can be as late as the end of the second decade. The presenting signs may be gait instability, ataxia, or speech delay and autistic features, which are sometimes the only evidence of disease for a year or more. Strabismus, nystagmus, and optic atrophy are common. Neuropsychiatric disturbances including impulsivity, poor attention span, hyperactivity, and emotional lability are also common. The course is fairly stable during early childhood and resembles static encephalopathy but is followed by neurologic deterioration between ages seven and 12 years. PLA2G6-related dystonia-parkinsonism has a variable age of onset, but most individuals present in early adulthood with gait disturbance or neuropsychiatric changes. Affected individuals consistently develop dystonia and parkinsonism (which may be accompanied by rapid cognitive decline) in their late teens to early twenties. Dystonia is most common in the hands and feet but may be more generalized. The most common features of parkinsonism in these individuals are bradykinesia, resting tremor, rigidity, and postural instability.|GeneReviews|N|
C0270725|A type of leukodystrophy characterized by multiple small cavitations typically in the periventricular and deep cerebral white matter. The cavitations are visible as a central cavity with cerebrospinal fluid-like signal intensity.|HPO|N|
C0270726|Alexander disease, a progressive disorder of cerebral white matter caused by a heterozygous GFAP pathogenic variant, comprises a continuous clinical spectrum most recognizable in infants and children and a range of nonspecific neurologic manifestations in adults. This chapter discusses the spectrum of Alexander disease as four forms: neonatal, infantile, juvenile, and adult. The neonatal form begins in the first 30 days after birth with neurologic findings (e.g., hypotonia, hyperexcitability, myoclonus) and/or gastrointestinal manifestations (e.g., gastroesophageal reflux, vomiting, failure to thrive), followed by severe developmental delay and regression, seizures, megalencephaly, and typically death within two years. The infantile form is characterized by variable developmental issues: initially some have delayed or plateauing of acquisition of new skills, followed in some by a loss of gross and fine motor skills and language during in the first decade or in others a slow disease course that spans decades. Seizures, often triggered by illness, may be less frequent/severe than in the neonatal form. The juvenile form typically presents in childhood or adolescence with clinical and imaging features that overlap with the other forms. Manifestations in early childhood are milder than those in the infantile form (e.g., mild language delay may be the only developmental abnormality or, with language acquisition, hypophonia or nasal speech may alter the voice, often prior to appearance of other neurologic features). Vomiting and failure to thrive as well as scoliosis and autonomic dysfunction are common. The adult form is typically characterized by bulbar or pseudobulbar findings (palatal myoclonus, dysphagia, dysphonia, dysarthria or slurred speech), motor/gait abnormalities with pyramidal tract signs (spasticity, hyperreflexia, positive Babinski sign), or cerebellar abnormalities (ataxia, nystagmus, or dysmetria). Others may have hemiparesis or hemiplegia with a relapsing/remitting course or slowly progressive quadriparesis or quadriplegia. Other neurologic features can include sleep apnea, diplopia or disorders of extraocular motility, and autonomic dysfunction.|GeneReviews|N|
C0270733|A progressive neurodegenerative disorder caused by a disruption in the connection between the striatum and the substantia nigra. It is a type of multiple system atrophy (MSA). Signs and symptoms include rigidity, instability, impaired speech, and slow movements.|NCI|N|
C0270736|A movement disorder characterized by involuntary and rhythmic shaking of parts of the body, most often the hands or arms, that can be triggered or worsened by physical or environmental stressors. Essential tremor may be progressive and can be inherited in an autosomal dominant manner.|NCI|N|
C0270742|A type of cerebral palsy characterized by slow, involuntary muscle movement and mixed muscle tone.|HPO|N|
C0270743|A form of athetoid cerebral palsy with bilateral involuntary movements.|SNOMEDCT_US|N|
C0270749|Cerebellar ataxia that is transmitted from parent to child.|NCI|N|
C0270763|An instance of motor neuron disease that is caused by an inherited modification of the individual's genome.|MONDO|N|
C0270786|A form of dementia characterized by brain lesions in the deep white-matter, also known as subcortical dementia.|MSH|N|
C0270790|Weakness of all four limbs.|HPO|N|
C0270804|A form of spastic cerebral palsy affecting two limbs; usually the legs are affected more than the arms.|SNOMEDCT_US|N|
C0270805|A form of spastic cerebral palsy affecting the arm and/or leg on one side of the body. An ipsilateral upper and/or lower extremity is affected.|SNOMEDCT_US|N|
C0270807|A form of spastic cerebral palsy affecting only one limb|SNOMEDCT_US|N|
C0270810|Paralysis of the nerves located in the legs.|NCI|N|
C0270820|Focal emotional seizure with laughing (gelastic) is characterized by bursts of laughter or giggling, usually without appropriate related emotion of happiness, and described as 'mirthless'.|HPO|N|
C0270823|Generalized non-convulsive status epilepticus without coma is a type of status epilepticus without prominent motor signs, which is electrographically generalized. It is a prolonged absence seizure.|HPO|N|
C0270824|Clinical or subclinical disturbances of cortical function due to a sudden, abnormal, excessive, and disorganized discharge of brain cells. Clinical manifestations include abnormal motor, sensory and psychic phenomena. Recurrent seizures are usually referred to as epilepsy or 'seizure disorder.'|MONDO|N|
C0270833|An epileptic seizure originating within networks limited to one hemisphere where disturbance of cognition is the predominant feature, regardless of whether aware or with impaired awareness. Cognitive deficits are deficits in language, thinking or associated higher cortical functions during seizures.|SNOMEDCT_US|N|
C0270834|Focal impaired awareness seizure (or focal seizure with impaired or lost awareness) is a type of focal-onset seizure characterized by some degree (which may be partial) of impairment of the person's awareness of themselves or their surroundings at any point during the seizure.|HPO|N|
C0270844|A tonic seizure is a type of motor seizure characterized by unilateral or bilateral limb stiffening or elevation, often with neck stiffening.|HPO|N|
C0270846|Atonic seizure is a type of motor seizure characterized by a sudden loss or diminution of muscle tone without apparent preceding myoclonic or tonic event lasting about 1 to 2 seconds, involving head, trunk, jaw, or limb musculature.|HPO|N|
C0270849|An epilepsy syndrome that is located in an area of the brain other than the temporal lobe.|MONDO|N|
C0270850|Idiopathic generalized epilepsy is a broad term that encompasses several common seizure phenotypes, classically including childhood absence epilepsy (CAE, ECA; see 600131), juvenile absence epilepsy (JAE, EJA; see 607631), juvenile myoclonic epilepsy (JME, EJM; see 254770), and epilepsy with grand mal seizures on awakening (Commission on Classification and Terminology of the International League Against Epilepsy, 1989). These recurrent seizures occur in the absence of detectable brain lesions and/or metabolic abnormalities. Seizures are initially generalized with a bilateral, synchronous, generalized, symmetrical EEG discharge (Zara et al., 1995; Lu and Wang, 2009).
See also childhood absence epilepsy (ECA1; 600131), which has also been mapped to 8q24. Of note, benign neonatal epilepsy 2 (EBN2; 121201) is caused by mutation in the KCNQ3 gene (602232) on 8q24.
Genetic Heterogeneity of Idiopathic Generalized Epilepsy
EIG1 has been mapped to chromosome 8q24. Other loci or genes associated with EIG include EIG2 (606972) on 14q23; EIG3 (608762) on 9q32; EIG4 (609750) on 10q25; EIG5 (611934) on 10p11; EIG6 (611942), caused by mutation in the CACNA1H gene (607904) on 16p; EIG7 (604827) on 15q14; EIG8 (612899), caused by mutation in the CASR gene (601199) on 3q13.3-q21; EIG9 (607682), caused by mutation in the CACNB4 gene (601949) on 2q23; EIG10 (613060), caused by mutation in the GABRD gene (137163) on 1p36; EIG11 (607628), caused by variation in the CLCN2 gene (600570) on 3q36; EIG12 (614847), caused by mutation in the SLC2A1 gene (138140) on 1p34; EIG13 (611136), caused by mutation in the GABRA1 gene (137160) on 5q34; EIG14 (616685), caused by mutation in the SLC12A5 gene (606726) on 20q12; EIG15 (618357), caused by mutation in the RORB gene (601972) on 9q22; EIG16 (618596), caused by mutation in the KCNMA1 gene (600150) on chromosome 10q22; EIG17 (602477), caused by mutation in the HCN2 gene (602781) on chromosome 19p13.3; and EIG18 (619521) caused by mutation in the HCN4 gene (605206) on chromosome 15q24.|OMIM|N|
C0270851|An inherited or sporadic disorder characterized by epileptic seizures in the first four to six weeks of life. The seizures tend to subside after the fifteenth week of life.|NCI|N|
C0270853|Juvenile myoclonic epilepsy is a condition characterized by recurrent seizures (epilepsy). This condition begins in childhood or adolescence, usually between ages 12 and 18, and lasts into adulthood. The most common type of seizure in people with this condition is myoclonic seizures, which cause rapid, uncontrolled muscle jerks. People with this condition may also have generalized tonic-clonic seizures (also known as grand mal seizures), which cause muscle rigidity, convulsions, and loss of consciousness. Sometimes, affected individuals have absence seizures, which cause loss of consciousness for a short period that appears as a staring spell. Typically, people with juvenile myoclonic epilepsy develop the characteristic myoclonic seizures in adolescence, then develop generalized tonic-clonic seizures a few years later. Although seizures can happen at any time, they occur most commonly in the morning, shortly after awakening. Seizures can be triggered by a lack of sleep, extreme tiredness, stress, or alcohol consumption.|MedlinePlus Genetics|N|
C0270855|A rare disorder characterized clinically by the onset of fragmentary myoclonus appearing in the first month of life, often associated with erratic focal seizures and a suppression-burst EEG pattern.|ORDO|N|
C0270857|Reflex epilepsy refers to epilepsies where recurrent seizures are provoked by a clearly defined extrinsic (most commonly) or intrinsic triggering stimuli such as flashing lights (photosensitive epilepsy), startling noises (startle epilepsy), urinating (micturition induced seizures), exposure to hot-water (hot water epilepsy, see these terms), eating, reading, and thinking, while being associated with an enduring abnormal predisposition to have such seizures (thereby meeting the conceptual definition of epilepsy).|ORDO|N|
C0270858|Paroxysmal episodes of intense, acute periumbilical pain that lasts for one or more hours with intervening periods of usual health lasting weeks to months, with no evidence of an inflammatory, anatomic, metabolic, or neoplastic process that explains the symptoms. The pain interferes with normal activities and is associated with at least two of the following symptoms: anorexia, nausea, vomiting, headache, photophobia, and/or pallor.|NCI|N|
C0270860|A migraine disorder characterized by episodes that are preceded by focal neurological symptoms originating in the brainstem.|NCI|N|
C0270862|A rare variety of migraine with aura characterized by the presence of a motor weakness during the aura. There are two main forms depending on the familial history: patients with at least one first- or second-degree relative who has aura including motor weakness have familial hemiplegic migraine (FHM); patients without such familial history have sporadic hemiplegic migraine (SHM).|ORPHANET|N|
C0270871|Facial myokymia is a fine fibrillary activity of one or more muscles innervated by the facial nerve (the seventh cranial nerve).|HPO|N|
C0270891|A disease that involves the nerve plexus.|MONDO|N|
C0270898|Weakness or paralysis of muscles in the forearm or hand due to damage of the lower brachial plexus.|NCI|N|
C0270909|A peripheral nerve lesion that involves the common fibular nerve.|MONDO|N|
C0270911|For a general phenotypic description and a discussion of genetic heterogeneity of Charcot-Marie-Tooth disease type 1, see CMT1B (118200).
CMT1A is the most common form of CMT. The average age of onset of clinical symptoms is 12.2 +/- 7.3 years. Slow nerve conduction velocity (NCV) less than 38 m/s is highly diagnostic and is a 100% penetrant phenotype independent of age (Lupski et al., 1991, 1992).|OMIM|N|
C0270912|Charcot-Marie-Tooth disease is a sensorineural peripheral polyneuropathy. Affecting approximately 1 in 2,500 individuals, Charcot-Marie-Tooth disease is the most common inherited disorder of the peripheral nervous system (Skre, 1974). Autosomal dominant, autosomal recessive, and X-linked forms have been recognized.
Classification
On the basis of electrophysiologic properties and histopathology, CMT has been divided into primary peripheral demyelinating (type 1, or HMSNI) and primary peripheral axonal (type 2, or HMSNII) neuropathies. The demyelinating neuropathies classified as CMT type 1 are characterized by severely reduced motor NCVs (less than 38 m/s) and segmental demyelination and remyelination with onion bulb formations on nerve biopsy. The axonal neuropathies classified as CMT type 2 are characterized by normal or mildly reduced NCVs and chronic axonal degeneration and regeneration on nerve biopsy (see CMT2A1; 118210). Distal hereditary motor neuropathy (dHMN) (see 158590), or spinal CMT, is characterized by exclusive motor involvement and sparing of sensory nerves (Pareyson, 1999).
McAlpine (1989) proposed that the forms of CMT with very slow nerve conduction be given the gene symbol CMT1A (118220) and CMT1B, CMT1A being the gene on chromosome 17 and CMT1B being the gene on chromosome 1. CMT2 was the proposed symbol for the autosomal locus responsible for the moderately slow nerve conduction form of the disease (axonal).
For a phenotypic description and discussion of genetic heterogeneity of the various subtypes of CMT, see CMTX1 (302800), CMT2A1 (118210), CMT3 (DSS; 145900), CMT4A (214400), and CMTDIB (606482).
Genetic Heterogeneity of Autosomal Dominant Demyelinating CMT1
Autosomal dominant demyelinating CMT1 is a genetically heterogeneous disorder and can be caused by mutations in different genes; see CMT1A (118220), CMT1C (601098), CMT1D (607678), CMT1E (607734), CMT1F (607734), CMT1G (618279), CMT1H (619764), CMT1I (619742), and CMT1J (620111).
See also 608236 for a related phenotype characterized by isolated slowed nerve conduction velocities (NCVs).|OMIM|N|
C0270913|For a phenotypic description and a discussion of genetic heterogeneity of autosomal dominant Charcot-Marie-Tooth disease type 1, see CMT1B (118200).|OMIM|N|
C0270914|A Charcot-Marie-Tooth disease characterized by abnormalities in the axon of the peripheral nerve cell.|MONDO|N|
C0270921|Any nerve disorder affecting the axon of a nerve.|NCI|N|
C0270922|Demyelinating neuropathy is characterized by slow nerve conduction velocities with reduced amplitudes of sensory/motor nerve conduction and prolonged distal latencies.|HPO|N|
C0270932|A diffuse or multifocal peripheral neuropathy caused by the effects of a distant neoplasm. It may be attributed, in part, to the immune response to neoplasm-elaborated proteins. The neuropathy may be sensory, motor, mixed or autonomic. It may be the initial presentation of an occult neoplasm. Detection and resection of the neoplasm may result in cure.|NCI|N|
C0270934|Polyneuropathy that is caused by exposure to toxins.|NCI|N|
C0270952|Oculopharyngeal muscular dystrophy (OPMD) is characterized by ptosis and dysphagia due to selective involvement of the muscles of the eyelids and pharynx, respectively. For the vast majority of individuals with typical OPMD, the mean age of onset of ptosis is usually 48 years and of dysphagia 50 years; in 5%-10% of individuals with severe OPMD, onset of ptosis and dysphagia occur before age 45 years and is associated with lower limb girdle weakness starting around age 60 years. Swallowing difficulties, which determine prognosis, increase the risk for potentially life-threatening aspiration pneumonia and poor nutrition. Other manifestations as the disease progresses can include limitation of upward gaze, tongue atrophy and weakness, chewing difficulties, wet voice, facial muscle weakness, axial muscle weakness, and proximal limb girdle weakness predominantly in lower limbs. Some individuals with severe involvement will eventually need a wheelchair. Neuropsychological tests have shown altered scores in executive functions in some.|GeneReviews|N|
C0270958|A rare disorder with characteristics of pseudohypertrophy of muscles due to longstanding hypothyroidism. Prevalence is unknown. The syndrome usually presents between 18 months and 10 years but has been reported at earlier ages including during the neonatal period. Patients present with clinical features of hypothyroidism, including decreased activity and increased sleep, feeding difficulty and constipation, prolonged jaundice. Pseudohypertrophy involves the muscles of the extremities, limb girdle, trunk, hands and feet but is more prominent in the limbs, resulting in an athletic appearance. Hypothyroidism, or thyroid hormone deficiency, may be congenital and may be permanent or transient.|SNOMEDCT_US|N|
C0270962|A rare hereditary neuromuscular disorder characterized by multiple cores on muscle biopsy and clinical features of a congenital myopathy.|ORDO|N|
C0270968|A mild subtype of autosomal recessive limb girdle muscular dystrophy characterized by slowly progressive proximal muscle weakness and wasting of the pelvic and shoulder girdles with onset that usually occurs during the second or third decade of life. Clinical presentation is variable and can include calf psuedohypertrophy, joint contractures, scapular winging, muscle cramping and/or facial and respiratory muscle involvement.|ORDO|N|
C0270969|Zebra body myopathy is a benign congenital myopathy, characterised by congenital hypotonia and weakness. Prevalence is unknown. Less than ten patients have been described so far. Muscle biopsy shows zebra bodies and other myopathic changes. Mutations of the <i>alpha-skeletal actin</i> (<i>ACTA1</i>) gene may be involved.|ORDO|N|
C0270970|Reducing body myopathy (RBM) is a rare muscle disorder marked by progressive muscle weakness and the presence of characteristic inclusion bodies in affected muscle fibres.|ORDO|N|
C0270971|A syndrome of generalized poor muscle tone and muscle weakness presenting in a newborn infant.|NCI|N|
C0270972|Cornelia de Lange syndrome (CdLS) encompasses a spectrum of findings from mild to severe. Severe (classic) CdLS is characterized by distinctive facial features, growth restriction (prenatal onset; <5th centile throughout life), hypertrichosis, and upper-limb reduction defects that range from subtle phalangeal abnormalities to oligodactyly (missing digits). Craniofacial features include synophrys, highly arched and/or thick eyebrows, long eyelashes, short nasal bridge with anteverted nares, small widely spaced teeth, and microcephaly. Individuals with a milder phenotype have less severe growth, cognitive, and limb involvement, but often have facial features consistent with CdLS. Across the CdLS spectrum IQ ranges from below 30 to 102 (mean: 53). Many individuals demonstrate autistic and self-destructive tendencies. Other frequent findings include cardiac septal defects, gastrointestinal dysfunction, hearing loss, myopia, and cryptorchidism or hypoplastic genitalia.|GeneReviews|N|
C0270984|A group of rare inherited disorders characterized by a deficiency of enzymes that are involved in metabolic pathways that affect muscles. The disorders are characterized by muscle dysfunction.|NCI|N|
C0270994|A non-neoplastic disorder affecting the skeletal muscles. It is caused by damage to muscle fibers either by excessive intake of corticosteroids (steroid treatment) or high levels of endogenous corticosteroids due to hormonal abnormalities. Patients usually present with weakness mainly in the proximal muscles of the upper and lower extremities and the neck flexors.|NCI|N|
C0271000|Aseptic fibrosis or local necrosis secondary to metal corrosion and release of wear debris.|NCI|N|
C0271001|A hemosiderosis that involves the camera-type eye.|MONDO|N|
C0271004|Absence of the anterior chamber of the eye owing to a developmental defect.|HPO|N|
C0271007|Atrophy of the eyeball with blindness and decreased intraocular pressure due to end-stage intraocular disease.|HPO|N|
C0271048|A localized detachment of the vitreous from the retina due to the accumulation of blood. When localized in the macular area, it results in sudden profound loss of vision. Subhyaloid premacular hemorrhage is typically characterized by a circumscribed, round or dumb-bell shaped, bright red mound of blood beneath the internal limiting membrane (ILM) or between the ILM and hyaloid face, in or near to the central macular area.|HPO|N|
C0271049|Accumulation of blood located beneath the neurosensory retina in the space between the neurosensory retina and the retinal pigment epithelium.|HPO|N|
C0271051|Thickening of the retina that takes place due to accumulation of fluid in the macula as a nonspecific response to blood-retinal barrier breakdown. Macular edema is a common pathological response to a wide variety of ocular insults, most commonly after intraocular (e.g. cataract) surgery or in association with retinal vascular (e.g. diabetic eye disease, retinal vein occlusion) or inflammatory (e.g. uveitis) disease.|HPO|N|
C0271053|Fluffy white patch on the retina, representing localized areas of dense white swelling of the retinal nerve fiber layer. They often have a zigzag internal structure, a feathered edge but an otherwise well-delineated form and an approximately 1 mm dimension; they project slightly into the vitreous and sometimes deflect retinal vessels.|HPO|N|
C0271055|A type of retinal detachment associated with a retinal tear, that is, with a break in the retina that allows fluid to pass from the vitreous space into the subretinal space between the sensory retina and the retinal pigment epithelium.|HPO|N|
C0271066|New, damaging blood vessels that grow beneath the retina. These blood vessels grow in an area called the choroid.|SNOMEDCT_US|N|
C0271073|A rare ophthalmic disorder characterized by 3 stages: vasculitis, occlusion, and retinal neovascularization, leading to recurrent vitreous hemorrhages and vision loss.|ORDO|N|
C0271083|Dry age related macular degeneration is characterized by the presence of age-related deposits called drusen and atrophy.|MONDO|N|
C0271093|A rare ophthalmic disorder that is usually characterized by a progressive loss of central vision associated with irregular macular and perimacular yellow-white fundus flecks, and a so-called ''beaten bronze'' atrophic central macular lesion.|ORDO|N|
C0271097|Usher syndrome is a condition characterized by partial or total hearing loss and vision loss that worsens over time. The hearing loss is classified as sensorineural, which means that it is caused by abnormalities of the inner ear. The loss of vision is caused by an eye disease called retinitis pigmentosa (RP), which affects the layer of light-sensitive tissue at the back of the eye (the retina). Vision loss occurs as the light-sensing cells of the retina gradually break down. Loss of night vision begins first, followed by blind spots that develop in the side (peripheral) vision. Over time, these blind spots enlarge and merge to produce tunnel vision. In some cases, vision is further impaired by clouding of the lens of the eye (cataracts). However, many people with retinitis pigmentosa retain some central vision throughout their lives.\n\nResearchers have identified three major types of Usher syndrome, designated as types I, II, and III. These types are distinguished by the severity of hearing loss, the presence or absence of balance problems, and the age at which signs and symptoms appear. The types are further divided into subtypes based on their genetic cause.\n\nMost individuals with Usher syndrome type I are born with severe to profound hearing loss. Worsening vision loss caused by retinitis pigmentosa becomes apparent in childhood. This type of Usher syndrome also causes abnormalities of the vestibular system, which is the part of the inner ear that helps maintain the body's balance and orientation in space. As a result of the vestibular abnormalities, children with the condition have trouble with balance. They begin sitting independently and walking later than usual, and they may have difficulty riding a bicycle and playing certain sports.\n\nUsher syndrome type II is characterized by hearing loss from birth and progressive vision loss that begins in adolescence or adulthood. The hearing loss associated with this form of Usher syndrome ranges from mild to severe and mainly affects the ability to hear high-frequency sounds. For example, it is difficult for affected individuals to hear high, soft speech sounds, such as those of the letters d and t. The degree of hearing loss varies within and among families with this condition, and it may become more severe over time. Unlike the other forms of Usher syndrome, type II is not associated with vestibular abnormalities that cause difficulties with balance.\n\nPeople with Usher syndrome type III experience hearing loss and vision loss beginning somewhat later in life. Unlike the other forms of Usher syndrome, type III is usually associated with normal hearing at birth. Hearing loss typically begins during late childhood or adolescence, after the development of speech, and becomes more severe over time. By middle age, most affected individuals have profound hearing loss. Vision loss caused by retinitis pigmentosa also develops in late childhood or adolescence. Some people with Usher syndrome type III develop vestibular abnormalities that cause problems with balance.|MedlinePlus Genetics|N|
C0271100|A non-neoplastic or neoplastic disorder that affects the ciliary body.|NCI|N|
C0271111|A clinical variant of iridocorneal endothelial (ICE) syndrome, characterized by progressive iris atrophy and holes present on the surface of the iris, corneal edema, corectopia, uveal ectropion and anterior synechiae. Secondary glaucoma is also a common complication of the disease.|ORDO|N|
C0271119|An iris cyst is composed of a single cell layer of epithelium and is filled with fluid.|HPO|N|
C0271121|A cyst that arises from the iris and is lined by squamous epithelium.|NCI|N|
C0271126|A closed sac, having a distinct membrane and division compared to the nearby tissue located within the anterior chamber. The sac that may contain air, fluids, or semi-solid material.|HPO|N|
C0271134|A deviation from the normal circular shape of the pupil|HPO|N|
C0271142|Secondary glaucoma caused by either excessive size or spheric shape of the lens.|MONDO|N|
C0271160|A cataract which affects the layer of the lens surrounding the nucleus, i.e., the lens cortex. It is identified by its unique wedge or spoke appearance.|HPO|N|
C0271165|A type of cataract with punctate opacities of the lens.|HPO|N|
C0271166|A senile cataract that involves the lens nucleus.|MONDO|N|
C0271183|A severe form of myopia with greater than -6.00 diopters.|HPO|N|
C0271185|A visual anomaly in which images appear distorted. A grid of straight lines appears wavy and parts of the grid may appear blank.|HPO|N|
C0271188|Hazy ring around bright lights seen by some patients with refractive error or optical defects, e.g. cataracts, or corneal swelling.|NCI|N|
C0271189|The inability to rely on visual cues to guide one's direction is due to the inability to recognize objects.|HPO|N|
C0271190|Perception of more than one image when viewing with one eye.|NCI|N|
C0271193|Reduced or abnormal sight in the peripheral visual field.|NCI|N|
C0271196|A scotoma (area of diminished vision within the visual field) located between the central point of fixation and the blind spot with a roughly horizontal oval shape.|HPO|N|
C0271198|A localized defect in the visual field bordered by an area of normal vision. This occurs with a variety of EYE DISEASES (e.g., RETINAL DISEASES and GLAUCOMA), OPTIC NERVE DISEASES, and other conditions.|MSH|N|
C0271257|A rare genetic retinal dystrophy with characteristics of irregular, sharply defined, yellowish-white lesions of variable size that are distributed mainly in the nasal equatorial region of the retina, with a tendency to confluence, that are not associated with any vascular or optic nerve abnormalities. They frequently manifest as mild and stationary night blindness.|SNOMEDCT_US|N|
C0271270|A rare inflammatory/autoimmune disorder of unknown origin characterized by interstitial keratitis (IK) and audiovestibular dysfunctions.|ORDO|N|
C0271283|A rare disorder of the anterior segment of the eye characterized by slowly progressive, bilateral, asymmetric, usually non-inflammatory degeneration of the peripheral cornea, resulting in stromal thinning, vascularization, lipid deposition, and against-the-rule astigmatism with decreased visual acuity. Degeneration typically involves the superior aspect of the cornea first and extends circumferentially, leading to circumferential ectasia of the peripheral cornea. Opacification of the central cornea may occur at a very advanced stage. In rare cases, the condition is complicated by perforation.|ORDO|N|
C0271287|Schnyder corneal dystrophy (SCCD), also known as Schnyder crystalline corneal dystrophy, is an autosomal dominant eye disease characterized by abnormal deposition of cholesterol and phospholipids in the cornea. The consequent corneal opacification is progressive and bilateral, resulting in glare and loss of vision that is postulated to be caused by light scattering. Patients demonstrate a characteristic pattern of corneal opacification dependent on age, and only half have crystalline corneal cholesterol deposits. Patients with noncrystalline disease have a more subtle presentation with only corneal haze, which may be difficult to diagnose (summary by Nickerson et al., 2013).|OMIM|N|
C0271288|Corneal guttata are droplet-like accumulations of non-banded collagen on the posterior surface of Descemet's membrane. The presence of focal thickenings of Descemet's membrane histologically named guttae. Cornea guttata can be easily diagnosed in vivo and ex vivo by means of specular microscopy as it gives dark areas where no endothelial cells are visible.|HPO|N|
C0271292|Reduced ability of the cornea to respond to stimulation.|HPO|N|
C0271298|Edema (swelling) of the bulbar conjunctiva.|HPO|N|
C0271323|Swelling of the lacrimal duct due to excess fluid.|NCI|N|
C0271333|A lymphoma that arises from the structures of the orbit. Representative examples include mucosa-associated lymphoid tissue lymphoma, follicular lymphoma, and diffuse large B-cell lymphoma.|NCI|N|
C0271347|Disease processes of the CAVERNOUS SINUS.|MSH|N|
C0271353|A non-neoplastic or neoplastic disorder affecting the oculomotor nerve (third cranial nerve).|NCI|N|
C0271355|A non-neoplastic or neoplastic disorder affecting the abducens nerve (sixth cranial nerve).|NCI|N|
C0271356|A small angle heterotropia (usually of 10 diopters or less) in which a form of binocular single vision occurs.|HPO|N|
C0271366|A type of cyclotropia (torsion of one or both eye around the visual axis of the eyes) in which the upper poles of the globes are rotated inward (medially) to each other.|HPO|N|
C0271367|A type of cyclotropia (torsion of one or both eye around the visual axis of the eyes) in which the upper poles of the globes are rotated outward (laterally) to each other.|HPO|N|
C0271368|Tendency for the visual axis of one eye to be higher than that of the other.|HPO|N|
C0271369|A form of latent strabismus (heterophoria) in which, on dissociation, the occluded eye deviates downwards.|HPO|N|
C0271375|Paralysis of the fourth cranial (trochlear) nerve manifested as weakness of the superior oblique muscle which causes vertical diplopia that is maximal when the affected eye is adducted and directed inferiorly.|HPO|N|
C0271377|Abducent nerve paralysis with contralateral hemiparesis|SNOMEDCT_US|N|
C0271379|Reduced ability to turn the eyes inward in order to focus on a nearby object.|HPO|N|
C0271384|Involuntary movements of the eye that are divided into two types, jerk and pendular. Jerk nystagmus has a slow phase in one direction followed by a corrective fast phase in the opposite direction, and is usually caused by central or peripheral vestibular dysfunction. Pendular nystagmus features oscillations that are of equal velocity in both directions and this condition is often associated with visual loss early in life. (Adams et al., Principles of Neurology, 6th ed, p272)|MONDO|N|
C0271385|Nystagmus consisting of horizontal to-and-fro eye movements.|HPO|N|
C0271386|Vertical nystagmus may present with either up-beating or down-beating eye movements or both. When present in the straight-ahead position of gaze it is referred to as upbeat nystagmus or downbeat nystagmus.|HPO|N|
C0271388|Rhythmic, involuntary sinusoidal oscillations of one or both eyes. The waveform of pendular nystagmus may occur in any direction.|HPO|N|
C0271408|Fiber- or rope-like opacities located within the vitreous humor.|HPO|N|
C0271428|A non-neoplastic or neoplastic disorder that affects the middle ear. Representative examples include infection, cholesteatoma, and carcinoma.|NCI|N|
C0271429|Acute otitis media is a short and generally painful infection of the middle ear.|HPO|N|
C0271431|Acute form of suppurative otitis media.|MONDO|N|
C0271432|Acute form of non-suppurative otitis media.|MONDO|N|
C0271441|Chronic otitis media refers to fluid, swelling, or infection of the middle ear that does not heal and may cause permanent damage to the ear.|HPO|N|
C0271446|A otitis media which involves transudation of fluid in the middle ear without pus formation.|MONDO|N|
C0271447|A otitis media (disease) with a basis in a pathological type I hypersensitivity reaction.|MONDO|N|
C0271454|Otitis media that persists for at least six weeks, and that is associated with otorrhea through a perforated tympanic membrane.|NCI|N|
C0271466|A benign polypoid growth in the middle ear.|NCI|N|
C0271468|A disease involving the pharyngotympanic tube.|MONDO|N|
C0271487|A group of disorders characterized by the sensation of constant motion or spinning despite not moving.|NCI|N|
C0271514|A type of hearing impairment affecting primarily the low frequencies of sound (125 Hz to 1000 Hz).|HPO|N|
C0271558|Ischemic or hemorrhagic necrosis of the pituitary gland.|NCI|N|
C0271561|Abnormally low levels of circulating somatotropin.|NCI|N|
C0271567|Type II IGHD is an autosomal dominant disorder characterized by low but detectable levels of growth hormone (GH), variable height deficit and age at presentation, and good response to rhGH. Patients may show anterior pituitary hypoplasia on MRI (summary by Phillips and Cogan, 1994; Alatzoglou and Dattani, 2012).|OMIM|N|
C0271568|Laron syndrome is an autosomal recessive disorder characterized by marked short stature that results from failure to generate insulin-like growth factor I (IGF1; 147440) in response to growth hormone (GH; 139250). GH levels are normal or increased. The disorder is caused by dysfunction of the growth hormone receptor.
A Laron syndrome-like phenotype associated with immunodeficiency (245590) is caused by a postreceptor defect, i.e., mutation in the STAT5B gene (604260).
Patients with mutations in the GHR gene that cause only partial insensitivity to growth hormone have a form of short stature (604271).|OMIM|N|
C0271578|Decreased functionality of the female gonads, i.e., of the ovary.|HPO|N|
C0271582|Male patients with hypogonadotropic hypogonadism due to isolated luteinizing hormone (LH) deficiency have normal sexual differentiation but fail to develop spontaneous puberty. Absence of LH alters Leydig cell proliferation and maturation and impairs the onset of normal spermatogenesis, which requires high levels of intratesticular testosterone. Infertility and very low levels of spermatogenesis generally persist in affected men despite long-term exposure to gonadotropin therapy. Female patients exhibit normal pubertal development and menarche, followed by oligomenorrhea and anovulatory secondary amenorrhea (summary by Basciani et al., 2012).
Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH; 152760) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by Raivio et al., 2007). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia (HH).'
For a general phenotypic description and discussion of genetic heterogeneity of hypogonadotropic hypogonadism, see 147950.
Reviews
Arnhold et al. (2009) noted that the clinical manifestations of female patients with hypogonadotropic hypogonadism due to mutations in LHB are very similar to those of women with hypergonadotropic hypogonadism due to inactivating mutations of the LH receptor (see 238320): all have female external genitalia, spontaneous development of normal pubic hair and breasts at puberty, and normal to late menarche followed by oligoamenorrhea and infertility. Pelvic ultrasound shows a small or normal uterus and normal or enlarged ovaries with cysts. However, women with LHB mutations can be treated with luteinizing hormone or chorionic gonadotropin (CG; 118860) replacement therapy; women with LH receptor mutations are resistant to LH, and no treatment is effective in recovering their fertility.|OMIM|N|
C0271586|A reduced level of prolactin in the blood circulation. Prolactin is a protein hormone that is secreted by lactotrophs in the anterior pituitary and that stimulates mammary gland development and milk production.|HPO|N|
C0271614|An abnormality involving one or more ovaries, occurring in women who have had a hysterectomy without bilateral oophorectomy.|SNOMEDCT_US|N|
C0271616|The onset of puberty before the age of 8 years in girls.|HPO|N|
C0271623|Hypogonadotropic hypogonadism is characterized by reduced function of the gonads (testes in males or ovaries in females) and results from the absence of the gonadal stimulating pituitary hormones|HPO|N|
C0271629|A deficiency of the Mullerian inhibiting substance, which is secreted by the Sertoli cells during embryogenesis. It can result in unilateral or bilateral cryptorchidism, testicular regression syndrome and sterility.|NCI|N|
C0271633|A non-neoplastic or neoplastic disorder that affects the endocrine pancreatic tissue (islets of Langerhans). Representative examples include diabetes mellitus and neuroendocrine neoplasms.|NCI|N|
C0271635|Diabetes mellitus that does not show any evidence of tissue or organ damage.|NCI|N|
C0271646|diabetes mellitus caused by medicinal substances given to or taken by the patient; concept excludes diabetes resulting from exposure to nonmedicinal chemicals in the environment or drugs of abuse, for which see TOXICOLOGY.|CSP|N|
C0271650|Glucose intolerance (GI) can be defined as dysglycemia that comprises both prediabetes and diabetes. It includes the conditions of impaired fasting glucose (IFG) and impaired glucose tolerance (IGT) and diabetes mellitus (DM).|HPO|N|
C0271662|Carbohydrate intolerance first diagnosed during pregnancy. Diagnosis from abnormal oral glucose tolerance test (OGTT) but normal glucose levels when fasting and two hours post-prandial. Euglycemia achieved with diet and/or exercise.|NCI|N|
C0271663|Carbohydrate intolerance first diagnosed during pregnancy. Diagnosis from abnormal oral glucose tolerance test (OGTT) and abnormal fasting or post-prandial glucose levels. Euglycemia achieved with medication.|NCI|N|
C0271683|Inflammation or degeneration of the peripheral motor nerves.|MONDO|N|
C0271686|Autonomic neuropathy that is caused by diabetes mellitus.|NCI|N|
C0271693|A rare lipodystrophic syndrome characterized by loss of adipose tissue, and is a syndrome of insulin resistance that leads to increased cardiovascular risk. Acquired generalized lipodystrophy is related to a selective loss of subcutaneous adipose tissue occurring exclusively at the extremities (face, legs, arms, palms and sometimes soles).|ORDO|N|
C0271694|Familial partial lipodystrophy is a rare condition characterized by an abnormal distribution of fatty (adipose) tissue. Adipose tissue is normally found in many parts of the body, including beneath the skin and surrounding the internal organs. It stores fat as a source of energy and also provides cushioning. In people with familial partial lipodystrophy, adipose tissue is lost from the arms, legs, and hips, giving these parts of the body a very muscular appearance. The fat that cannot be stored in the limbs builds up around the face and neck, and inside the abdomen. Excess fat in these areas gives individuals an appearance described as "cushingoid," because it resembles the physical features associated with a hormonal disorder called Cushing disease. This abnormal fat distribution can begin anytime from childhood to adulthood.\n\nAbnormal storage of fat in the body can lead to health problems in adulthood. Many people with familial partial lipodystrophy develop insulin resistance, a condition in which the body's tissues cannot adequately respond to insulin, which is a hormone that normally helps to regulate blood sugar (glucose) levels. Insulin resistance may worsen to become a more serious disease called diabetes mellitus. Some people with familial partial lipodystrophy develop acanthosis nigricans, a skin condition related to high levels of insulin in the bloodstream. Acanthosis nigricans causes the skin in body folds and creases to become thick, dark, and velvety.\n\nMost people with familial partial lipodystrophy also have high levels of fats called triglycerides circulating in the bloodstream (hypertriglyceridemia), which can lead to inflammation of the pancreas (pancreatitis). Familial partial lipodystrophy can also cause an abnormal buildup of fats in the liver (hepatic steatosis), which can result in an enlarged liver (hepatomegaly) and abnormal liver function. After puberty, some affected females develop multiple cysts on the ovaries, an increased amount of body hair (hirsutism), and an inability to conceive (infertility), which are likely related to hormonal changes.\n\nResearchers have described at least six forms of familial partial lipodystrophy, which are distinguished by their genetic cause. The most common form of familial partial lipodystrophy is type 2, also called Dunnigan disease. In addition to the signs and symptoms described above, some people with this type of the disorder develop muscle weakness (myopathy), abnormalities of the heart muscle (cardiomyopathy), a form of heart disease called coronary artery disease, and problems with the electrical system that coordinates the heartbeat (the conduction system).|MedlinePlus Genetics|N|
C0271695|INSR-related severe syndromic insulin resistance comprises a phenotypic spectrum that is a continuum from the severe phenotype Donohue syndrome (DS) (also known as leprechaunism) to the milder phenotype Rabson-Mendenhall syndrome (RMS). DS at the severe end of the spectrum is characterized by severe insulin resistance (hyperinsulinemia with associated fasting hypoglycemia and postprandial hyperglycemia), severe prenatal growth restriction and postnatal growth failure, hypotonia and developmental delay, characteristic facies, and organomegaly involving heart, kidneys, liver, spleen, and ovaries. Death usually occurs before age one year. RMS at the milder end of the spectrum is characterized by severe insulin resistance that, although not as severe as that of DS, is nonetheless accompanied by fluctuations in blood glucose levels, diabetic ketoacidosis, and – in the second decade – microvascular complications. Findings can range from severe growth delay and intellectual disability to normal growth and development. Facial features can be milder than those of DS. Complications of longstanding hyperglycemia are the most common cause of death. While death usually occurs in the second decade, some affected individuals live longer.|GeneReviews|N|
C0271708|HYPOGLYCEMIA expressed in the postabsorptive state, after prolonged FASTING, or an overnight fast.|MSH|N|
C0271710|Hypoglycermia following a meal (or more generally, after intake of glucose).|HPO|N|
C0271713|Low blood glucose is accompanied by elevated levels of ketone bodies in the body.|HPO|N|
C0271725|Cushing syndrome as a result of increased glucocorticoids due to medical therapy.|NCI|N|
C0271728|A form of hyperaldosteronism caused by abnormally increased renin levels.|HPO|N|
C0271732|Achard–Thiers syndrome combines the features of adrenogenital syndrome and Cushing syndrome. It occurs mainly in post-menopausal women|MONDO|N|
C0271737|A chronic and rare endocrine disorder due to autoimmune destruction of the adrenal cortex and resulting in a glucocorticoid and mineralocorticoid deficiency. Properly speaking, it designates autoimmune adrenalitis, but it is a term commonly used to describe any form of chronic primary adrenal insufficiency (CPAI).|ORDO|N|
C0271742|Triple A syndrome is an inherited condition characterized by three specific features: achalasia, Addison disease, and alacrima. Achalasia is a disorder that affects the ability to move food through the esophagus, the tube that carries food from the throat to the stomach. It can lead to severe feeding difficulties and low blood glucose (hypoglycemia). Addison disease, also known as primary adrenal insufficiency, is caused by abnormal function of the small hormone-producing glands on top of each kidney (adrenal glands). The main features of Addison disease include fatigue, loss of appetite, weight loss, low blood pressure, and darkening of the skin. The third major feature of triple A syndrome is a reduced or absent ability to secrete tears (alacrima). Most people with triple A syndrome have all three of these features, although some have only two.\n\nMany of the features of triple A syndrome are caused by dysfunction of the autonomic nervous system. This part of the nervous system controls involuntary body processes such as digestion, blood pressure, and body temperature. People with triple A syndrome often experience abnormal sweating, difficulty regulating blood pressure, unequal pupil size (anisocoria), and other signs and symptoms of autonomic nervous system dysfunction (dysautonomia).\n\nPeople with this condition may have other neurological abnormalities, such as developmental delay, intellectual disability, speech problems (dysarthria), and a small head size (microcephaly). In addition, affected individuals commonly experience muscle weakness, movement problems, and nerve abnormalities in their extremities (peripheral neuropathy). Some develop optic atrophy, which is the degeneration (atrophy) of the nerves that carry information from the eyes to the brain. Many of the neurological symptoms of triple A syndrome worsen over time.\n\nPeople with triple A syndrome frequently develop a thickening of the outer layer of skin (hyperkeratosis) on the palms of their hands and the soles of their feet. Other skin abnormalities may also be present in people with this condition.\n\nAlacrima is usually the first noticeable sign of triple A syndrome, as it becomes apparent early in life that affected children produce little or no tears while crying. They develop Addison disease and achalasia during childhood or adolescence, and most of the neurologic features of triple A syndrome begin during adulthood. The signs and symptoms of this condition vary among affected individuals, even among members of the same family.|MedlinePlus Genetics|N|
C0271750|Calcification within the adrenal glands.|HPO|N|
C0271760|Pathological enlargement of the lingual thyroid, ectopic thyroid tissue at the base of the tongue. It may cause upper airway obstruction; dysphagia; or hypothyroidism symptoms.|MONDO|N|
C0271767|Graves disease in the neonate resulting from transplacental passage of thyrotropin receptor antibody.|NCI|N|
C0271789|A type of central congenital hypothyroidism, a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones due to a deficiency in TSH synthesis.|ORDO|N|
C0271790|Condition associated with a raised serum concentration of thyroid stimulating hormone (TSH) but a normal serum free thyroxine (FT4).|HPO|N|
C0271801|A type of hypothyroidism due to an insufficient stimulation of an otherwise normal thyroid gland. Central hypothyroidism is caused by either pituitary (secondary hypothyroidism) or hypothalamic (tertiary hypothyroidism) defects.|HPO|N|
C0271815|Inflammatory disorder of thyroid gland that occurs postpartum due to any partum problem.|NCI|N|
C0271819|A morphologic finding indicating transformation of follicular cells to large cells with abundant eosinophilic and granular cytoplasm (Hurthle cells) in the thyroid gland.|NCI|N|
C0271824|An inherited metabolic disease that is has its basis in the disruption of thyroid hormone metabolic process.|MONDO|N|
C0271826|A condition associated with reduced active import of iodide across the basolateral membrane of the follicular cells of the thyroid gland. Inactivating mutations in the SLC5A5 gene encoding the sodium-iodide symporter are responsible for the condition.|NCI|N|
C0271829|Pendred syndrome / nonsyndromic enlarged vestibular aqueduct (PDS/NSEVA) comprises a phenotypic spectrum of sensorineural hearing loss (SNHL) that is usually congenital and often severe to profound (although mild-to-moderate progressive hearing impairment also occurs), vestibular dysfunction, and temporal bone abnormalities (bilateral enlarged vestibular aqueduct with or without cochlear hypoplasia). PDS also includes development of euthyroid goiter in late childhood to early adulthood whereas NSEVA does not.|GeneReviews|N|
C0271844|Hyperplasia of the parathyroid gland.|HPO|N|
C0271846|An instance of primary hyperparathyroidism (disease) that is caused by an inherited modification of the individual's genome.|MONDO|N|
C0271858|A type of hyperparathyroidism that occurs following kidney transplantation, which is a treatment for secondary hyperparathyroidism. Although kidney transplantation leads to a normalization of serum calcium and parathyroid hormone in most patients. The state of persistent hypercalcemia and hyperparathyroidism is referred to as tertiary hyperparathyroidism.|HPO|N|
C0271865|A type of hypoparathyroidism with circulating antiparathyroid or anti-calcium sensing receptor antibodies indicative of autoimmunity.|HPO|N|
C0271869|A type of pseudohypoparathyroidism with characteristics of localised resistance to parathyroid hormone (PTH) mainly in the renal tissues which manifests with hypocalcaemia, hyperphosphataemia and elevated PTH levels. About 60-70% of patients also present with elevated TSH levels due to TSH resistance. Severity of symptoms can vary greatly between patients and even among kindreds. The majority of cases are sporadic, but an autosomal dominant transmission has also been described. About 70% of patients display methylation defects, sporadic or genetic-based, at GNAS (20q13.2-q13.3) differentially methylated regions (DMRs).|SNOMEDCT_US|N|
C0271889|Emaciation in the setting of normal linear growth and intellectual development, which is usually associated with neoplasms involving the anterior hypothalamus in infancy or early childhood.|NCI|N|
C0271901|A type of anemia characterized by an abnormally low concentration of hemoglobin in the erythrocytes and lower than normal size of the erythrocytes.|HPO|N|
C0271902|A type of anemia characterized by an normal concentration of hemoglobin in the erythrocytes and lower than normal size of the erythrocytes.|HPO|N|
C0271905|Methemoglobinemia that is caused by exposure to certain drugs (xylocaine and benzene) and nitrate-rich foods.|NCI|N|
C0271907|An instance of aplastic anemia that is acquired during the lifetime of the individual.|MONDO|N|
C0271909|A state of bone marrow suppression and failure that is caused by a cytotoxic or adverse immunologic response to a drug treatment, leading to a failure of production of red blood cells, white cells and platelets.|NCI|N|
C0271912|Aplastic anemia caused by an infection.|NCI|N|
C0271933|Congenital dyserythropoietic anemia type I (CDA I) is characterized by moderate-to-severe macrocytic anemia presenting occasionally in utero as severe anemia associated with hydrops fetalis but more commonly in neonates as hepatomegaly, early jaundice, and intrauterine growth restriction. Some individuals present in childhood or adulthood. After the neonatal period, most affected individuals have lifelong moderate anemia, usually accompanied by jaundice and splenomegaly. Secondary hemochromatosis develops with age as a result of increased iron absorption even in those who are not transfused. Distal limb anomalies occur in 4%-14% of affected individuals.|GeneReviews|N|
C0271972|A type of megaloblastic anemia (i.e., anemia characterized by the presence of erythroblasts that are larger than normal) that improves upon the administration of thiamine.|HPO|N|
C0271985|Delta-beta-thalassemia is a form of beta-thalassemia (see this term) characterized by decreased or absent synthesis of the delta- and beta-globin chains with a compensatory increase in expression of fetal gamma-chain synthesis.|ORDO|N|
C0271990|A hereditary disorder characterized by reduced or absent DELTA-GLOBIN thus effecting the level of HEMOGLOBIN A2, a minor component of adult hemoglobin monitored in the diagnosis of BETA-THALASSEMIA.|MSH|N|
C0271994|Hereditary persistence of fetal hemoglobin (HPFH) associated with beta-thalassemia (see this term) is characterized by high hemoglobin (Hb) F levels and an increased number of fetal-Hb-containing-cells.|ORDO|N|
C0272005|Alpha-thalassemia (a-thalassemia) has two clinically significant forms: hemoglobin Bart hydrops fetalis (Hb Bart) syndrome (caused by deletion/inactivation of all four a-globin genes; --/--), and hemoglobin H (HbH) disease (most frequently caused by deletion/inactivation of three a-globin genes; --/-a). Hb Bart syndrome, the more severe form, is characterized by prenatal onset of generalized edema and pleural and pericardial effusions as a result of congestive heart failure induced by severe anemia. Extramedullary erythropoiesis, marked hepatosplenomegaly, and a massive placenta are common. Death usually occurs in the neonatal period. HbH disease has a broad phenotypic spectrum: although clinical features usually develop in the first years of life, HbH disease may not present until adulthood or may be diagnosed only during routine hematologic analysis in an asymptomatic individual. The majority of individuals have enlargement of the spleen (and less commonly of the liver), mild jaundice, and sometimes thalassemia-like bone changes. Individuals with HbH disease may develop gallstones and experience acute episodes of hemolysis in response to infections or exposure to oxidant drugs.|GeneReviews|N|
C0272006|A rare hemoglobinopathy characterized by variable degrees of hemolytic anemia, depending on the nature of the hemoglobin variant. In symptomatic patients, clinical manifestations are jaundice, splenomegaly, and, in patients with severe anemia, pallor. Additional features include reticulocytosis, presence of Heinz bodies, and pigmenturia.|ORDO|N|
C0272013|Deficiency of vitamin B6. It is usually caused by alcoholism, malabsorption, or as a side effect of medications. Signs and symptoms include stomatitis, glossitis, dermatitis, peripheral neuropathy, irritability, seizures, and anemia.|MONDO|N|
C0272027|A type of sideroblastic anemia that is alleviated by pyridoxine (vitamin B-6) treatment.|HPO|N|
C0272031|A group of inherited hemolytic anemias caused by erythrocyte membrane defects. This includes hereditary pyropoikilocytosis, hereditary spherocytosis and hereditary elliptocytosis.|NCI|N|
C0272051|Dehydrated hereditary stomatocytosis (DHS), also known as hereditary xerocytosis, is an autosomal dominant hemolytic anemia characterized by primary erythrocyte dehydration. DHS erythrocytes exhibit decreased total cation and potassium content that are not accompanied by a proportional net gain of sodium and water. DHS patients typically exhibit mild to moderate compensated hemolytic anemia, with an increased erythrocyte mean corpuscular hemoglobin concentration and a decreased osmotic fragility, both of which reflect cellular dehydration (summary by Zarychanski et al., 2012). Patients may also show perinatal edema and pseudohyperkalemia due to loss of K+ from red cells stored at room temperature. A minor proportion of red cells appear as stomatocytes on blood films. Complications such as splenomegaly and cholelithiasis, resulting from increased red cell trapping in the spleen and elevated bilirubin levels, respectively, may occur. The course of DHS is frequently associated with iron overload, which may lead to hepatosiderosis (summary by Albuisson et al., 2013).
Dehydrated red blood cells, including those from hereditary xerocytosis patients, show delayed infection rates to Plasmodium in vitro, suggesting a potential protective mechanism against malaria (Tiffert et al., 2005). A polymorphism in PIEZO1 that is enriched in populations of African descent and results in xerocytosis conferred resistance to Plasmodium infection in vitro (see 611184.0016).
The 'leaky red blood cells' in familial pseudohyperkalemia show a temperature-dependent loss of potassium when stored at room temperature, manifesting as apparent hyperkalemia. The red blood cells show a reduced life span in vivo, but there is no frank hemolysis. Studies of cation content and transport show a marginal increase in permeability at 37 degrees C and a degree of cellular dehydration, qualitatively similar to the changes seen in dehydrated hereditary stomatocytosis. Physiologic studies show that the passive leak of potassium has an abnormal temperature dependence, such that the leak is less sensitive to temperature than that in normal cells (summary by Iolascon et al., 1999).
Carella et al. (2004) noted that 3 clinical forms of pseudohyperkalemia unassociated with hematologic manifestations, based predominantly on the leak-temperature dependence curve, had been reported: (1) pseudohyperkalemia Edinburgh, in which the curve has a shallow slope; (2) pseudohyperkalemia Chiswick or Falkirk (see 609153), in which the curve is shouldered; and (3) pseudohyperkalemia Cardiff (see 609153), in which the temperature dependence of the leak shows a 'U-shaped' profile with a minimum at 23 degrees C. Gore et al. (2004) stated that potassium-flux temperature profiles are consistent both from year to year in an individual as well as consistent within affected members of a pedigree.
Genetic Heterogeneity of Hereditary Stomatocytosis
Dehydrated hereditary stomatocytosis-2 (DHS2; 616689) is caused by mutation in the KCNN4 gene (602754) on chromosome 19q13. Another form of stomatocytosis, involving familial pseudohyperkalemia with minimal hematologic abnormalities (PSHK2; 609153), is caused by mutation in the ABCB6 gene (605452) on chromosome 2q35. Cryohydrocytosis (CHC; 185020) is caused by mutation in the SLC4A1 gene (109270) on chromosome 17q21, and stomatin-deficient cryohydrocytosis with neurologic defects (SDCHCN; 608885) is caused by mutation in the SLC2A1 gene (138140) on chromosome 1p34. An overhydrated form of hereditary stomatocytosis (OHST; 185000) is caused by mutation in the RHAG gene (180297) on chromosome 6p12.
See 137280 for a discussion of the association of familial stomatocytosis and hypertrophic gastritis in the dog, an autosomal recessive syndrome.
Reviews
Delaunay (2004) reviewed genetic disorders of red cell membrane permeability to monovalent cations, noting 'inevitable' overlap between entities based on clinical phenotype.
Bruce (2009) provided a review of hereditary stomatocytosis and cation-leaky red cells, stating that consistent features include hemolytic anemia, a monovalent cation leak, and changes in red cell morphology that appear to follow a continuum, from normal discocyte to stomatocyte to echinocyte in DHS, and from discocyte to stomatocyte to spherocyte to fragmentation in OHST. Bruce (2009) suggested that the underlying pathologic mechanism might involve misfolded mutant proteins that escape the quality control system of the cell and reach the red cell membrane, where they disrupt the red cell membrane structure and cause a cation leak that alters the hydration of the red cell, thereby changing the morphology and viability of the cell.
King and Zanella (2013) provided an overview of 2 groups of nonimmune hereditary red cell membrane disorders caused by defects in membrane proteins located in distinct layers of the red cell membrane: red cell cytoskeleton disorders, including hereditary spherocytosis (see 182900), hereditary elliptocytosis (see 611804), and hereditary pyropoikilocytosis (266140); and cation permeability disorders of the red cell membrane, or hereditary stomatocytoses, including DHS, OHST, CHC, and PSHK. The authors noted that because there is no specific screening test for the hereditary stomatocytoses, a preliminary diagnosis is based on the presence of a compensated hemolytic anemia, macrocytosis, and a temperature- or time-dependent pseudohyperkalemia in some patients. King et al. (2015) reported the International Council for Standardization in Haematology (ICSH) guidelines for laboratory diagnosis of nonimmune hereditary red cell membrane disorders.|OMIM|N|
C0272052|A rare constitutional hemolytic anemia due to a red cell membrane anomaly characterized by lack or severe reduction of Rh blood group antigens, resulting in increased osmotic fragility of red blood cells and chronic hemolytic anemia of varying severity with stomatocytosis and spherocytosis. Two types of the syndrome arising from independent genetic mechanisms have been distinguished: the regulator type is caused by defects of the Rh associated glycoprotein (encoded by the <i>RHAG</i> gene), while the amorph type is due to mutations at the <i>RH</i> locus itself.|ORDO|N|
C0272056|A rare constitutional hemolytic anemia due to an enzyme disorder characterized by severe glucose-6-phosphate dehydrogenase deficiency (typically &lt;10% residual enzyme activity) associated with chronic non-spherocytic hemolytic anemia of highly variable severity. Patients are at risk of developing neonatal jaundice (potentially leading to kernicterus), gallstones, and reticulocytosis and splenomegaly. They have an increased susceptibility to oxidizing agents provoking episodes of acute hemolysis. Favism, which describes the occurrence of an acute hemolytic reaction in response to the ingestion of fava beans, is more common in infants and young children.|ORPHANET|N|
C0272064|Glucosephosphate isomerase (GPI) deficiency is an erythroenzymopathy characterized by chronic nonspherocytic hemolytic anemia.|ORPHANET|N|
C0272066|Aldolase A deficiency is an autosomal recessive disorder associated with hereditary hemolytic anemia (Kishi et al., 1987).|OMIM|N|
C0272080|Hemoglobin D disease(HbD) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin D, with no or mild clinical manifestations (splenomegaly, very mild anemia).|ORDO|N|
C0272084|A rare, genetic hemoglobinopathy characterized by all the characteristics of sickle cell anemia (SCA). Clinical course is similar to SCA, including acute episodes of pain, splenic infarction and splenic sequestration crisis, vaso-occlusive crisis, acute chest syndrome, ischemic brain injury, osteomyelitis and avascular bone necrosis. The genotype is characterized by an HbS allele in combination with the HbD variant, beta121Glu>Gln.|ORDO|N|
C0272087|A rare red cell disorder classified principally into two clinical phenotypes: autosomal recessive congenital (or hereditary) methemoglobinemia types I and II (RCM/RHM type 1; RCM/RHM type 2).|ORDO|N|
C0272118|Warm autoimmune hemolytic anemia is the most common form of autoimmune hemolytic anemia (see this term) defined by the presence of warm autoantibodies against red blood cells (autoantibodies that are active at temperatures between 37-40°C).|ORDO|N|
C0272126|A rare chronic hematologic disorder characterized by the simultaneous or sequential association of autoimmune hemolytic anemia (AIHA; a disorder in which auto-antibodies are directed against red blood cells causing anemia of varying degrees of severity) with immune thrombocytopenic purpura (ITP; a coagulation disorder in which auto-antibodies are directed against platelets causing hemorrhagic episodes) and occasionally autoimmune neutropenia, in the absence of a known underlying etiology.|ORDO|N|
C0272137|Polyagglutination refers to red blood cells that agglutinate upon exposure to almost all human sera, but not to autologous serum or the sera of newborns. The condition becomes apparent during blood typing and cross-matching in the laboratory (summary by Beck, 2000).
Tn polyagglutination syndrome is an acquired clonal disorder characterized by the polyagglutination of red blood cells by naturally occurring anti-Tn antibodies following exposure of the Tn antigen on the surface of erythrocytes. Only a subset of red cells express the antigen, which can also be expressed on platelets and leukocytes. This condition may occur in healthy individuals who manifest asymptomatic anemia, leukopenia, or thrombocytopenia; however, there is also an association between the Tn antigen and leukemia or myelodysplastic disorders. The Tn antigen is an incompletely glycosylated membrane glycoprotein with an exposed N-acetylgalactosamine residue. The Tn antigen results from inactivation of C1GALT1C1, which encodes a chaperone required for the correct functioning of T-synthetase (C1GALT1; 610555), an enzyme essential for the correct biosynthesis of O-glycans. Absence of active T-synthetase results in exposure of GalNAc residues, with a proportion of these residues becoming sialylated and forming a sialyl-Tn antigen (summary by Vainchenker et al., 1985 and Crew et al., 2008).|OMIM|N|
C0272153|A condition in which the red blood cell level is greater than established reference ranges in a newborn.|NCI|N|
C0272167|Reticular dysgenesis, the most severe form of inborn severe combined immunodeficiency (SCID), is characterized by absence of granulocytes and almost complete deficiency of lymphocytes in peripheral blood, hypoplasia of the thymus and secondary lymphoid organs, and lack of innate and adaptive humoral and cellular immune functions, leading to fatal septicemia within days after birth (summary by Pannicke et al., 2009).|OMIM|N|
C0272170|Shwachman-Diamond syndrome (SDS) is characterized by: exocrine pancreatic dysfunction with malabsorption, malnutrition, and growth failure; hematologic abnormalities with single- or multilineage cytopenias and susceptibility to myelodysplasia syndrome (MDS) and acute myelogeneous leukemia (AML); and bone abnormalities. In almost all affected children, persistent or intermittent neutropenia is a common presenting finding, often before the diagnosis of SDS is made. Short stature and recurrent infections are common.|GeneReviews|N|
C0272173|Impaired egress of mature neutrophils from bone marrow causing neutropenia.|HPO|N|
C0272174|Periodic fever, immunodeficiency, and thrombocytopenia syndrome (PFITS) is an autosomal recessive immunologic disorder with variable manifestations. Common features include early-onset recurrent respiratory infections, stomatitis, and cutaneous infections. Organisms usually include bacteria such as pneumococcus, Staphylococcus, and H. influenzae, but severe viral infections, including varicella, may also occur. Laboratory investigations may show neutropenia, neutrophilia, leukocytosis, or lymphopenia, although levels of immune cells may also be normal. Detailed studies often show impaired neutrophil chemotaxis associated with increased or abnormal F-actin levels, and impaired, normal, or even increased oxidative burst, depending on the stimulus. B- and T-cell abnormalities have also been observed. Some patients develop autoimmune manifestations, including chronic thrombocytopenia, anemia, and periodic fevers, associated with activation of the inflammasome. Early death may occur; however, hematopoietic stem cell transplantation may be curative (summary by Kuhns et al., 2016, Standing et al., 2017, and Pfajfer et al., 2018).|OMIM|N|
C0272176|A rare acquired neutropenia characterized by isolated neutropenia in a newborn due to maternal alloimmunization against human neutrophil antigens (HNA) inherited from the father and present on fetal neutrophils, and subsequent increased breakdown of the latter. The condition is self-limiting and resolves after several weeks. It usually presents with only mild bacterial infections or may even be asymptomatic, although severe forms with sepsis and fatal outcome have also been reported.|ORDO|N|
C0272178|A type of agranulocytosis related to ingestion of a specific medication.|HPO|N|
C0272187|Leukocyte adhesion deficiency (LAD) is a primary immunodeficiency characterized by defects in the leukocyte adhesion process, marked leukocytosis and recurrent infections.|ORDO|N|
C0272192|Familial eosinophilia is a rare autosomal dominant disorder characterized by peripheral hypereosinophilia (greater than 500 eosinophils/micro liter of blood) with or without other oragn involvement (summary by Rioux et al., 1998).|OMIM|N|
C0272199|Familial hemophagocytic lymphohistiocytosis (fHLH), defined as the presence of biallelic pathogenic variants in one of four genes (PRF1, STX11, STXBP2, or UNC13D), is an immune deficiency characterized by the overactivation and excessive proliferation of T lymphocytes and macrophages, leading to infiltration and damage of organs including the bone marrow, liver, spleen, and brain. Familial HLH usually presents as an acute illness with prolonged and high fever, cytopenias, and hepatosplenomegaly. Rash and lymphadenopathy are less common. Individuals with fHLH may also exhibit liver dysfunction and neurologic abnormalities. Although manifestations of fHLH are usually evident within the first months or years of life and may develop in utero, symptomatic presentation can occur throughout childhood and into adulthood. Median survival in untreated infants with fHLH who develop active disease is less than two months after onset of manifestations; progressive manifestations of fHLH, organ dysfunction, invasive infection, and bleeding account for the majority of deaths. Use of etoposide-containing regimens such as the HLH-94 and HLH-2004 protocols followed by allogeneic hematopoietic stem cell transplantation (HSCT) has improved survival.|GeneReviews|N|
C0272202|A rare neoplastic disease characterized by a localized, unifocal, low-grade tumor composed of mature mast cells, without evidence of systemic mastocytosis or skin lesions. The tumor most commonly arises in the lung and shows a non-destructive growth pattern.|ORDO|N|
C0272203|A rare, usually benign, chronic, form of systemic mastocytosis (SM) characterized by an abnormal accumulation of neoplastic mast cells (MCs) mainly in the bone marrow (BM) but also in other organs or tissues such as preferably the skin.|ORDO|N|
C0272217|A lymphoproliferative disorder characterized by the presence of an atypical lymphocytic infiltrate.|NCI|N|
C0272236|A genetically heterogenous group of conditions characterized by decreased levels of IgG, IgA, and IgE, and normal or increased levels of IgM. Patients are at an increased risk of infections and development of malignancies.|NCI|N|
C0272238|At birth, newborns are endowed with maternal antibodies. IgG production normally begins at the age of two months. A delay in recovery from this physiological hypogammaglobulinemia between the 3rd and the 6th month of life, and of recovery period between 18 and 36 months defines transient newborn hypogammaglobulinemia.|HPO|N|
C0272242|An immunodeficiency defined by the absent or suboptimal functioning of one of the complement system proteins.|HPO|N|
C0272247|A primary disturbance in immunoglobulin synthesis characterized by the presence of two distinct monoclonal immunoglobulins in the serum or urine.|NCI|N|
C0272253|A heavy chain disease that results from an overproduction of delta antibody (IgD).|MONDO|N|
C0272256|A localized malignant neoplasm that arises in the bone. It is composed of clonal (malignant) plasma cells forming a tumor mass. The most commonly affected bones are the vertebrae, ribs, skull, pelvis, and femur.|NCI|N|
C0272263|Cryofibrinogen is an abnormal protein that forms precipitate only in plasma. consisting of fibrinogen, fibronectin, alpha1-antitrypsin and alpha2-macroglobulin.|HPO|N|
C0272271|A disorder of blood clotting that is attributable to a deficiency in liver function.|NCI|N|
C0272278|Thrombocytopenia with congenital onset.|HPO|N|
C0272285|Low platelet count following administration of unfractionated or (less commonly) low-molecular weight heparin.|HPO|N|
C0272286|Thrombocytopenia that results from immune destruction of platelets.|NCI|N|
C0272302|The gray platelet syndrome (GPS) is a rare inherited disorder characterized by mild to moderate bleeding tendency, moderate thrombocytopenia, and a marked decrease or absence of platelet alpha-granules and of the proteins contained in alpha-granules. The platelets are enlarged, but not giant, and have a gray appearance on light microscopy of Wright-stained peripheral blood smears due to decreased granules. Many patients with gray platelet syndrome develop a stable myelofibrosis (summary by Nurden and Nurden, 2007).
Cases suggesting autosomal dominant and autosomal recessive inheritance have been described, indicating that GPS is probably a genetically heterogeneous disorder with more than one molecular cause.|OMIM|N|
C0272315|Includes both quantitative and qualitative disorders of procoagulants|SNOMEDCT_US|N|
C0272316|An inherited blood coagulation disorder characterized by deficiency of one of the coagulation factors, resulting in bleeding.|NCI|N|
C0272317|Prothrombin deficiency is an extremely rare autosomal recessive bleeding disorder characterized by low levels of circulating prothrombin; it affects about 1 in 2,000,000 individuals. There are 2 main types: type I deficiency, known as true prothrombin deficiency or 'hypoprothrombinemia,' is defined as plasma levels of prothrombin being less than 10% of normal with a concomitant decrease in activity. These patients have severe bleeding from birth, including umbilical cord hemorrhage, hematomas, ecchymoses, hematuria, mucosal bleeding, hemarthroses, intracranial bleeding, gastrointestinal bleeding, and menorrhagia. Type II deficiency, known as 'dysprothrombinemia,' is characterized by normal or low-normal synthesis of a dysfunctional protein. Bleeding symptoms are more variable, depending on the amount of residual functional activity. Variant prothrombin gene alleles can result in 'hypoprothrombinemia' or 'dysprothrombinemia,' and individuals who are compound heterozygous for these 2 types of alleles have variable manifestations. Heterozygous mutation carriers, who have plasma levels between 40 and 60% of normal, are usually asymptomatic, but can show bleeding after tooth extraction or surgical procedures (review by Lancellotti and De Cristofaro, 2009).|OMIM|N|
C0272320|A rare, genetic, congenital vitamin K-dependant coagulation factor deficiency disorder characterized by decreased levels or absence of coagulation factor VII (FVII), resulting in bleeding diathesis of variable severity.|ORDO|N|
C0272322|Severe disease manifests factor VIII activity of less than 1%, except in the U.K. and Italy, where severe disease includes factor VIII activity levels of less than 2%|SNOMEDCT_US|N|
C0272323|Moderate disease manifests factor VIII activity of 2% to 5% of normal|SNOMEDCT_US|N|
C0272324|Mild disease manifests factor VIII activity of greater than 5% of normal|SNOMEDCT_US|N|
C0272325|An acquired coagulation disorder characterized by the partial or complete absence of factor VIII activity in the blood.|NCI|N|
C0272327|A rare inherited bleeding disorder with a decreased antigen and/or activity of factor X (FX) and characterized by mild to severe bleeding symptoms.|ORDO|N|
C0272328|An acquired coagulation disorder characterized by the partial or complete absence of factor X activity in the blood.|NCI|N|
C0272334|A rare autosomal recessive inherited bleeding disorder caused by deficiency of coagulation factor XII. It may be asymptomatic or manifest with bleeding.|NCI|N|
C0272339|Prekallikrein deficiency is a blood condition that usually causes no health problems. In people with this condition, blood tests show a prolonged activated partial thromboplastin time (PTT), a result that is typically associated with bleeding problems; however, bleeding problems generally do not occur in prekallikrein deficiency. The condition is usually discovered when blood tests are done for other reasons.\n\nA few people with prekallikrein deficiency have experienced health problems related to blood clotting such as heart attack, stroke, a clot in the deep veins of the arms or legs (deep vein thrombosis), nosebleeds, or excessive bleeding after surgery. However, these are common problems in the general population, and most affected individuals have other risk factors for developing them, so it is unclear whether their occurrence is related to prekallikrein deficiency.|MedlinePlus Genetics|N|
C0272340|High molecular weight kininogen (HMWK) deficiency is an autosomal recessive coagulation defect. It is known by a variety of names, including Fitzgerald trait, Flaujeac trait, and Williams trait. Patients with HWMK deficiency do not have a hemorrhagic tendency, but they exhibit abnormal surface-mediated activation of fibrinolysis. Fitzgerald trait represents a 'true' deficiency of HMWK, whereas Flaujeac and Williams traits represent total kininogen deficiency, in which both HMWK and low molecular weight kininogen (LMWK) are deficient. HMWK and LMWK are both encoded by the KNG1 gene (612358) (Bick, 2002; Takagaki et al., 1985).|OMIM|N|
C0272348|Deficiency of vitamin K. It may lead to bleeding, manifested with ecchymoses, petechiae, and hematomas. In infants it may cause hemorrhagic disease of newborn with intracranial and retroperitoneal bleeding.|MONDO|N|
C0272350|Inherited disorders of fibrinogen affect either the quantity (afibrinogenemia and hypofibrinogenemia; 202400) or the quality (dysfibrinogenemia) of the circulating fibrinogen, or both (hypodysfibrinogenemia). Patients with dysfibrinogenemia are frequently asymptomatic, but some patients have bleeding diathesis, thromboembolic complications, or both (summary by de Moerloose and Neerman-Arbez, 2009). Reports (e.g., Haverkate and Samama, 1995) on approximately 350 families with dysfibrinogenemia revealed that approximately half of cases are clinically silent, a quarter show a tendency toward bleeding, and another quarter show a predisposition for thrombosis with or without bleeding (summary by Lefebvre et al., 2004).|OMIM|N|
C0272362|Acquired von Willebrand disease (VWD) is a rare bleeding disorder marked by the same biological anomalies as those seen in hereditary von Willebrand disease (VWD) but which occurs in association with another underlying pathology, generally in elderly patients without any personal or family history of bleeding anomalies. There are three principle pathogenic mechanisms described which are firstly the presence of autoantibodies (inhibiting or noninhibiting) that form immune complexes with the von Willebrand factor (VWF) leading to rapid clearance of VWF from the circulation. Secondly, absorption of VWF onto malignant cell clones and thirdly the increased proteolysis of high molecular weight VWF multimers under abnormal blood conditions caused by cardiovascular malformations (such as aortic valve stenosis).|SNOMEDCT_US|N|
C0272375|Deficiency of antithrombin III is a major risk factor for venous thromboembolic disease. Two categories of AT-III deficiency have been defined on the basis of AT-III antigen levels in the plasma of affected individuals. The majority of AT-III deficiency families belong in the type I (classic) deficiency group and have a quantitatively abnormal phenotype in which antigen and heparin cofactor levels are both reduced to about 50% of normal. The second category of AT-III deficiency has been termed type II (functional) deficiency. Affected individuals from these kindreds produce dysfunctional AT-III molecules; they have reduced heparin cofactor activity levels (about 50% of normal) but levels of AT-III antigen are often normal or nearly normal (summary by Bock and Prochownik, 1987).
The 2 categories of antithrombmin III deficiency have been classified further. Type I (low functional and immunologic antithrombin) has been subdivided into subtype Ia (reduced levels of normal antithrombin), and type Ib (reduced levels of antithrombin and the presence of low levels of a variant). Type II (low functional but normal immunologic antithrombin) has been subdivided into subtype IIa (functional abnormalities affecting both the reactive site and the heparin-binding site of AT3); subtype IIb (functional abnormalities limited to the reactive site); and subtype IIc (functional abnormalities limited to the heparin-binding site) (summary by Lane et al., 1992).|OMIM|N|
C0272380|A non-neoplastic or neoplastic disorder that affects the tonsils.|NCI|N|
C0272386|Increase in size of the tonsils, small collections of lymphoid tissue facing into the aerodigestive tract on either side of the back part of the throat.|HPO|N|
C0272394|Any disorder of the lymph nodes.|NCI|N|
C0272396|An inflamed lymph node that is filled with pus.|HPO|N|
C0272398|Regional lymph node enlargement with a distinctive reactive process that is characterized by paracortical hyperplasia composed of interdigitating dendritic cells, Langerhans cells, macrophages containing melanin pigment, and small T-cells, due to chronic inflammatory skin disease.|NCI|N|
C0272407|A closed sac located in the spleen.|HPO|N|
C0272412|A circumscribed area of pus or necrotic debris in the parenchyma of the spleen.|HPO|N|
C0272414|A condition characterized by an abnormal spleen position due to loss, weakness, or malformation of one or more of the ligaments that hold the spleen in its normal position in the left upper abdomen. It may present as a birth defect or follow injuries or pregnancy. Signs and symptoms include abdominal discomfort and splenomegaly.|NCI|N|
C0272416|A rare gastroenterologic disease characterized by isolated thrombotic obstruction of the splenic vein, typically due to pancreatic disorders, in particular acute or chronic pancreatitis or pancreatic neoplasms. It is the main cause of left-sided portal hypertension. Patients may be asymptomatic or present with abdominal pain, gastrointestinal bleeding, nausea, and vomiting, as well as signs of portal hypertension.|ORPHANET|N|
C0272567|More than one fracture of the ribs. Callus formation around multiple rib fractures can produce a row of multiple rounded expansions (beadlike prominences) giving the appearance of beaded ribs. Note that rachitic rosary would have one bead per rib (a swelling at the costochondral junction), while beaded ribs in the context of multiple rib fractures have multiple beads (fractures) along the same rib.|HPO|N|
C0272600|A partial or complete breakage of the sternal end of clavicle.|HPO|N|
C0272774|A partial or complete breakage of a metatarsal bone.|HPO|N|
C0274294|Chronic mountain sickness (CMS), or Monge disease, represents a state of maladaptation to high-altitude hypoxia in a member of a population acclimatized to high altitudes. CMS is characterized by severe polycythemia and an array of neurologic symptoms, including headache, fatigue, somnolence, and depression. Often, people with CMS suffer from strokes and myocardial infarctions in early adulthood because of increased blood viscosity. Studies have shown that CMS is common in Andeans, found occasionally in Tibetans, and absent from the Ethiopian population living on the East African high-altitude plateau (summary by Zhou et al., 2013). Acute mountain sickness (see pulmonary edema of mountaineers, 178400) is experienced by unacclimatized travelers exposed to high altitude.|OMIM|N|
C0274435|Adverse events associated with the transfusion of whole blood or one of its components, most commonly a hemolytic reaction to cross-typed blood.|NCI|N|
C0274437|Transfusion reaction complications such as delayed suppression of ERYTHROPOIESIS may occur after destruction of autologous RED BLOOD CELLS in Hemolytic Transfusion Reaction.|MSH|N|
C0275522|Infection associated with no detectable symptoms but caused by microorganisms capable of producing easily recognizable diseases, such a poliomyelitis or mumps.|NCI|N|
C0275524|The simultaneous infection of a host by multiple pathogen species.|NCI|N|
C0275544|infections acquired in utero and persisting after birth; this term applies maninly to the infant, in contrast to PREGNANCY INFECTION, which applies mainly to the mother and fetus.|CSP|N|
C0275594|An disease or disorder caused by infection with Brucella suis.|MONDO|N|
C0275654|Acute form of gonococcal salpingitis.|MONDO|N|
C0275662|An synovitis (disease) caused by infection with Neisseria gonorrhoeae.|MONDO|N|
C0275686|A bacterial infection by Listeria monocytogenes that is present at birth.|NCI|N|
C0275708|A skin condition caused by Mycobacterium marinum, characterized by a skin lesion that presents roughly three weeks after exposure.|MONDO|N|
C0275715|A disease caused by infection with Mycobacterium xenopi.|MONDO|N|
C0275742|Any disease caused by infection with by Bordetella parapertussis. The symptoms are similar but less severe than Bordetella pertussis whooping cough.|MONDO|N|
C0275758|An mesenteric lymphadenitis caused by infection with Yersinia pseudotuberculosis.|MONDO|N|
C0275842|Latent syphilis when infection was acquired less than twelve months previously.|NCI|N|
C0275859|A congenital syphilis that is manifested between 0 and 2 years old.|MONDO|N|
C0275904|A well-circumscribed mass composed of tuberculous granulation tissue that may occur in the cerebral hemispheres, cerebellum, brain stem, or perimeningeal spaces. Multiple lesions are quite common. Management of intracranial manifestations vary with lesion site. Intracranial tuberculomas may be associated with seizures, focal neurologic deficits, and intracranial hypertension. Spinal cord tuberculomas may be associated with localized or radicular pain, weakness, sensory loss, and incontinence. Tuberculomas may arise as opportunistic infections, but also occur in immunocompetent individuals.|MONDO|N|
C0275911|A tuberculosis that involves the intestine.|MONDO|N|
C0275919|A type of abdominal tuberculosis that is characterized by accumulation of fluid in the abdomen, a swollen abdomen, and slightly raised tubercles of 1–2 mm all over the peritoneum.|MONDO|N|
C0275931|Mycobacterium infections of the female reproductive tract (genitalia, female).|MONDO|N|
C0275932|An urogenital tuberculosis involving a pathogenic inflammatory response in the ovary.|MONDO|N|
C0275933|An urogenital tuberculosis involving a pathogenic inflammatory response in the fallopian tube.|MONDO|N|
C0275974|A tularemia that involves the lymph node.|MONDO|N|
C0275982|A gastrointestinal infection attributed to the bacteria campylobacter. It is usually contracted by consuming raw or undercooked poultry or consuming a food that has been in contact with raw poultry. It is characterized by abdominal pain, fever, and diarrhea and usually resolves in two to five days.|NCI|N|
C0275998|Early yaws includes primary and secondary stages of yaws, endemic tropical treponemal nonvenereal infection: development of initial lesion at inoculation site followed by widespread dissemination of treponemes and generalized secondary granulomatous lesions that may relapse repeatedly.|NCI|N|
C0276046|Chronic endemic respiratory disease of dairy calves and an important component of bovine respiratory disease complex. It primarily affects calves up to six months of age and the etiology is multifactorial. Stress plus a primary viral infection is followed by a secondary bacterial infection. The latter is most commonly associated with PASTEURELLA MULTOCIDA producing a purulent BRONCHOPNEUMONIA. Sometimes present are MANNHEIMIA HAEMOLYTICA; HAEMOPHILUS SOMNUS and mycoplasma species.|MSH|N|
C0276108|A bacterial infection caused by Chlamydophila psittaci. Humans are infected by handling sick birds. The Chlamydiae cause respiratory infection manifests with fever, malaise, cough, dyspnea, sore throat, photophobia and headaches.|NCI|N|
C0276121|A disease caused by infection with Neorickettsia.|MONDO|N|
C0276138|Myocarditis that is caused by an infection with a viral agent.|NCI|N|
C0276139|Pericarditis that is caused by an infection with a viral agent.|NCI|N|
C0276180|An infection that is caused by an Orthopoxvirus, which is transmitted by primates or rodents, and which is characterized by a prodromal syndrome of fever, chills, headache, myalgia, and lymphedema; initial symptoms are followed by a generalized papular rash that typically progresses from vesiculation through crusting over the course of two weeks.|NCI|N|
C0276225|Congenital herpes virus infection is a group of anomalies that an infant may present as a result of maternal infection and subsequent foetal infection with herpes virus. This virus causes recurrent cutaneous infections in adults, often involving the lips or the genitalia. Herpes infections in other organs, such as the liver or central nervous system, are less frequent.|ORDO|N|
C0276226|Infection of the brain parenchyma with herpes simplex virus, resulting in inflammation of the brain parenchyma with neurologic dysfunction.|HPO|N|
C0276241|A herpesvirus infection of cattle characterized by catarrhal inflammation of the upper respiratory and alimentary epithelia, keratoconjunctivitis, encephalitis and lymph node enlargement. Syn: bovine epitheliosis, snotsiekte.|MSH|N|
C0276253|Pneumonia caused by cytomegalovirus. Most humans are exposed to cytomegalovirus. Healthy individuals do not develop signs and symptoms of infection. Patients with weakened immune system (e.g., AIDS patients, cancer patients who are being treated with chemotherapy, and patients who have received bone marrow or solid organ transplants) develop signs and symptoms of infection. They include cough, shortness of breath, fatigue, malaise, fever, muscle and joint pain, and excessive sweating.|NCI|N|
C0276262|Slightly raised wart 2-5 mm in diameter often associated with viral infections, commonly persistent in immunodeficient individuals.|HPO|N|
C0276264|A slow-growing, locally destructive, cauliflower-like condyloma of the anogenital region. It most often appears on the penis.|NCI|N|
C0276275|Virus infections caused by the PARVOVIRIDAE.|MSH|N|
C0276286|An disease or disorder caused by infection with O'nyong-nyong virus.|MONDO|N|
C0276289|Zika virus disease is an emerging <i>Aedes</i> mosquito-born virus disease characterized by a clinical course that may be asymptomatic or mild with fever, conjunctivitis, muscle and joint pain, headache, exanthema, but may also be associated with severe neurological (meningitis, meningoencephalitis and myelitis) and auto-immune (Guillain-Barre syndrome) complications, as well as a potential increase of birth defects (microcephaly) if the infection occurs during pregnancy.|ORDO|N|
C0276324|Parainfluenza virus type 3 is one of a group of common viruses known as human parainfluenza viruses (HPIV) that cause a variety of respiratory illnesses. Symptoms usually develop between 2 and 7 days from the time of exposure and typically resolve in 7-10 days. Symptoms may include fever, runny nose, and cough. HPIV-3 can also cause bronchiolitis, bronchitis, and pneumonia. Infants and young children are particularly susceptible to HPIV-3 infections, though older adults and those with a weakened immune system are also at risk for complications. HPIVs are usually spread from an infected person to others through coughing, sneezing, and/or touching. There is currently no vaccine to protect against parainfluenza virus infections. Most HPIV infections resolve on their own and do not require special treatment, though medical intervention may be necessary for severe breathing problems. Most adults have antibodies against parainfluenza but can get repeat infections.|MONDO|N|
C0276340|Bronciolitis caused by infection with respiratory syncytial virus.|MONDO|N|
C0276357|An acute viral respiratory infection caused by a strain of influenza virus which is endemic in swine (pigs). Rarely reported in humans prior to 2009, the disease is caused by a mutated strain of swine influenza A (H1N1) virus. It is highly contagious and spreads mainly through coughing and sneezing. Signs and symptoms include fever, chills, coughing, sore throat headache, muscle ache, and generalized weakness. Antiviral medications are most effective in the first two days of the illness.|MONDO|N|
C0276379|An acute arboviral infection caused by the <i>La Crosse bunyavirus</i> transmitted by an infected mosquito, usually observed in infants, children or adolescents (6 months to 16 years), and characterized by the onset of flulike symptoms such as fever, chills, nausea, vomiting, headache, and abdominal pain, followed by the onset of encephalitis characterized by somnolence, obtundation, and even seizures, focal neurologic signs (asymmetrical reflexes or Babinski signs), paralysis or even coma. CE can leave sequelae such as residual epilepsy and neurocognitive deficits.|ORDO|N|
C0276386|A disease caused by infection with Oropouche virus.|MONDO|N|
C0276447|An infectious process caused by rhinovirus. The virus usually causes upper respiratory infections, but can infect the lower tract as well.|NCI|N|
C0276487|A group of pathologic syndromes found in avian species caused by RETICULOENDOTHELIOSIS VIRUS. The distinct syndromes include non-neoplastic runting, acute neoplastic disease, and chronic neoplastic disease. Humans and mammals appear resistant.|MSH|N|
C0276496|A degenerative disease of the brain that causes gradual loss of memory, judgment, and the ability to function socially. About 25% of all Alzheimer disease is familial (more than 2 people in a family have AD). When Alzheimer disease begins before 60 or 65 years of age (early-onset AD) about 60% of the cases are familial (also known as Early-onset familial AD). These cases appear to be inherited in an autosomal dominant manner.|MONDO|N|
C0276535|The most aggressive form of Kaposi sarcoma. It presents in patients who are infected with the human immunodeficiency virus. It can affect the skin and internal organs.|NCI|N|
C0276609|A new infection by the hepatitis B virus, which can be transmitted by direct contact of infected blood with mucous membranes or open areas of the skin. Signs and symptoms may include loss of appetite, joint and muscle pain, low-grade fever and stomach pain. Two to six percent of adults progress to a chronic infection, while 90% of infants become chronically ill. A vaccine is available for those at risk.|NCI|N|
C0276623|Chronic hepatitis caused by viruses, most commonly hepatitis viruses B and C.|NCI|N|
C0276624|Fulminant viral hepatitis is a rapid and severe impairment of liver functions (acute liver failure) with hepatic encephalopathy developing less than 8 weeks after the onset of jaundice, secondary to viral hepatitis mainly due to HBV, but also to HAV.|ORDO|N|
C0276647|Pericarditis that is caused by an infection with a fungal agent.|NCI|N|
C0276648|An endocarditis (disease) caused by infection with Fungi.|MONDO|N|
C0276653|Infection of the lungs with aspergillus. In the respiratory mucosa, the spores may germinate into hyphae, which in turn can invade the mucosa leading to invasive pulmonary aspergillosis.|HPO|N|
C0276657|A infectious disease involving the Aspergillus niger.|MONDO|N|
C0276682|A fungal infection by any of the Candida species in a newborn infant up to 28 days old.|NCI|N|
C0276688|Fungal pneumonia caused by inhalation of particles of Cryptococcus. It usually occurs in immunocompromised patients such as persons with AIDS, transplant recipients, patients receiving cytotoxic chemotherapy, and patients with hematologic malignancies. It is rare in immunocompetent individuals. Signs and symptoms include fever, cough, and dyspnea.|NCI|N|
C0276721|Phaeohyphomycosis refers to infections due to a large group of heterogenous organisms called dematiaceous or melanized fungi. These fungi are distinguished by the predominance of melanin in their cell walls, which likely acts as a virulence factor. Virtually, everyone is exposed to dematiaceous fungi through inhalation, as they are ubiquitous in the environment, although the development of infection is extremely uncommon.|HPO|N|
C0276731|A type of invasive dermatophyte infection characterized by vascular involvement and dissemination to other organs.|HPO|N|
C0276742|A rare inflammatory and suppurating type of tinea capitis, a skin infection caused by <i>Trichophyton</i> or <i>Microsporum</i> fungi, that predominantly affects the scalp and that is characterized by the development of painful crusty lesions covered with follicular pustules and surrounded by erythematous alopecic areas, that can later evolve into abscesses and leave permanent cicatricial alopecia. Lesions can be associated with regional lymphadenopathy.|ORDO|N|
C0276758|Fusariosis describes a superficial, locally invasive, disseminated infection with the pathogenic fungus species, <i>Fusarium</i>, often found in soil and water, which is mainly transmitted to humans through traumatic inoculation and that manifests with keratitis, onychomycosis and less frequently peritonitis and cellulitis. In the immunocompromised, disseminated fusariosis is more common and it manifests with refractory fever, skin lesions (ecthyma-like, target, and multiple subcutaneous nodules), severe myalgias and sino-pulmonary infections.|ORDO|N|
C0276912|A granulomatous disease caused by the aquatic organism pythium insidiosum occurring rarely in humans. It is classified into three forms: ocular, cutaneous, and arterial.|MONDO|N|
C0276919|An infection in the gastrointestinal tract by a nematode.|NCI|N|
C0276926|A bladder infection that occurs as a manifetation of a systemic infection with one or more species of the parasitic worms of the Schistosoma type; this can progress to bladder cancer in time.|NCI|N|
C0276932|An disease or disorder caused by infection with Schistosoma intercalatum.|MONDO|N|
C0277005|An infection caused by the parasite Opisthorchis viverrini. It results from the ingestion of raw or undercooked food. The clinical features vary from mild to severe and include gastrointestinal symptoms, anorexia, weight loss, hepatomegaly, and cholangitis. Patients are at an increased risk of developing cholangiocarcinoma.|NCI|N|
C0277108|An disease or disorder caused by infection with Mesocestoides.|MONDO|N|
C0277120|Infection by Ancylostoma ceylanicum.|NCI|N|
C0277150|An infection that is caused by the raccoon nematode Baylisascaris procyonis, which is transmitted by the ingestion of embryonated eggs in contaminated soil; symptoms depend on larval migration sites (visceral organs, eye, or brain) provoking severe inflammatory responses.|NCI|N|
C0277331|An disease or disorder caused by infection with Acanthocephala.|MONDO|N|
C0277346|Bed bugs bite you and feed on your blood. You may have no reaction to the bites, or you may have small marks or itching. Severe allergic reactions are rare. Bed bugs don''t transmit or spread diseases.CHAR(13) Adult bed bugs are brown, 1/4 to 3/8 inch long, and have a flat, oval-shaped body. Young bed bugs (called nymphs) are smaller and lighter in color. Bed bugs hide in a variety of places around the bed. They might also hide in the seams of chairs and couches, between cushions, and in the folds of curtains. They come out to feed about every five to ten days. But they can survive over a year without feeding.CHAR(13) To prevent bed bugs in your home:CHAR(13)  	-Check secondhand furniture for any signs of bed bugs before bringing it home. CHAR(13) 	-Use a protective cover that encases mattresses and box springs. Check it regularly for holes. CHAR(13) 	-Reduce clutter in your home so they have fewer places to hide. CHAR(13) 	-Unpack directly into your washing machine after a trip and check your luggage carefully. When staying in hotels, put your suitcases on luggage racks instead of the floor. Check the mattress and headboard for signs of bed bugs. CHAR(13)  To get rid of bed bugs:CHAR(13)  	-Wash and dry bedding and clothing at high temperatures. CHAR(13) 	-Use mattress, box spring, and pillow encasements to trap bed bugs and help detect infestations. CHAR(13) 	-Use pesticides if needed. CHAR(13)  Environmental Protection AgencyCHAR(13)|MEDLINEPLUS|N|
C0277355|Parasitic attack by members of the order SIPHONAPTERA.|MSH|N|
C0277356|Tungiasis is a parasitic skin disease caused by the female sand flea <i>Tunga penetrans</i>. The disease is characterized by acute (multiple white, gray, or yellowish papular or nodular lesions with brown-black-colored opening at the center and peripheral erythema) and chronic inflammation in the feet with itchy/ painful lesions. Bacterial superinfection is common and result in debilitating clinical pathology (deep ulcers, gangrene, lymphangitis and septicemia), leading to impaired physical fitness and mobility. Tungiasis also involves hyperkeratosis, fissuration, nail hypertrophy, and loss of nails.|ORDO|N|
C0277513|A severe inflammatory disease that occurs sporadically and in outbreaks in Russia and Japan, caused by Yersinia pseudotubuclosis infection, an organism that typically causes self-limiting gastroenteritis in Europe.|MONDO|N|
C0277521|A sexually transmitted tumor arising from histiocytes and occurring in dogs.|NCI|N|
C0277524|A viral or bacterial infectious process affecting the large intestine.|NCI|N|
C0277550|The constant presence of a disease or infectious agent within a given geographic area or population group; may also refer to the usual prevalence of a given disease within such area or group. (A dictionary of epidemiology, edited for the International Epidemiological Association by John M. Last, Oxford University Press 2001)|NCI|N|
C0277553|A disease or disorder for which the cause is of uncertain or unknown.|MONDO|N|
C0277556|The return of a disease after a period of remission.|NCI|N|
C0277565|A disease that is confined to a specific organ or tissue and has not spread to other anatomic sites.|NCI|N|
C0277585|An adverse of effect of a drug that is not due to an immunologic or metabolic abnormality or to alterations in bioavailability or excretion. Joint AAAAI/ACAAI practice parameters-Drug intolerance 2010.|SNOMEDCT_US|N|
C0277589|Death resulting from an unknown cause.|NCI|N|
C0277638|An indication that the subject''s death was due to a mishap.|NCI|N|
C0277778|Removal of a dead body from the earth after burial.|MSH|N|
C0277785|Deranged function in an individual or an organ that is due to a disease. (MedicineNet.com)|NCI|N|
C0277786|The primary reason for a patient visit.|NCI|N|
C0277787|A perceived attribute that is deeply discrediting and is considered to be a violation of social norms.|MSH|N|
C0277794|Extreme fatigue; inability to respond to stimuli.|NCI|N|
C0277799|Cycles of fever with intervening periods of normothermia.|NCI|N|
C0277814|The state or act of one who sits; the posture of one who occupies a seat.|NCI|N|
C0277827|Normally, the posterior and lateral fontanelles are obliterated by about six months after birth, the anterior fontanelle closes by about the middle of the second year. This term refers to the situation in which the fontanelles close at an inappropriately early time point.|HPO|N|
C0277828|Infants normally have two fontanels at birth, the diamond-shaped anterior fontanelle at the junction of the coronal and sagittal sutures, and the posterior fontanelle at the intersection of the occipital and parietal bones. The posterior fontanelle usually closes by the 8th week of life, and the anterior fontanel closes by the 18th month of life on average. This term applies if there is delay of closure of the fontanelles beyond the normal age.|HPO|N|
C0277839|A Hoffmann test is performed by flicking the fingernail of the long finger, from dorsal to volar, on each hand while the hand was supported by the examiner's hand. The test was done with the neck in the neutral position and then with the neck maximally forward flexed. Any flexion of the ipsilateral thumb and/or index finger was interpreted as a positive test.|HPO|N|
C0277843|WHAT: Tinel''s sign.	Tinel''s Sign: a clinical test in which percussion of the median nerve at the volar aspect of the wrist produces a tingling sensation in the fingers supplied by the median nerve.	WHY:	The test helps in diagnosing those patients with carpal tunnel syndrome.	HOW:	The test is performed by lightly percussing the median nerve at the volar aspect of the wrist, just radial to the palmaris longus tendon. The test is considered positive if the patient experiences a tingling sensation in the thumb, index, middle or radial half of the ring finger or in the radial half of the palm.	REFS:	Phalen, GS: The carpal tunnel syndrome: seventeen years'' experience in diagnosis and treatment of 654 hands. J Bone Joint Surg 48A:211, 1966. DN19301-1.|AIR|N|
C0277858|Absence of breath sounds noted during auscultation.|NCI|N|
C0277873|Widening of the nostrils upon inhalation as a manifestation of respiratory distress.|HPO|N|
C0277885|Abnormal decrease in systolic blood pressure.|HPO|N|
C0277890|Abnormal decrease in diastolic blood pressure.|HPO|N|
C0277899|The pulsation of an artery where the pulse is taken (e.g. the radial artery at the wrist) cannot be detected on physical examination.|HPO|N|
C0277911|A high-pitched sound that occurs at the moment of maximal opening of the aortic or pulmonary valves. They are heard just after the first heart sound. The sounds occur in the presence of a dilated aorta or pulmonary artery or in the presence of a bicuspid or flexible stenotic aortic or pulmonary valve. Ejection clicks may also be called ejection sounds.|HPO|N|
C0277912|A mid-to-late diastolic murmur heard best at the cardiac apex, heard in cases of aortic insufficiency|SNOMEDCT_US|N|
C0277913|High-pitched diastolic murmur heard best at left sternal border, associated with pulmonary valve insufficiency|SNOMEDCT_US|N|
C0277914|A heart murmur that has an auditory quality in which turbulence sounds similar to the workings of an industrial machine.|NCI|N|
C0277917|An accentuated heart murmur that occurs during both ventricular ejection and ventricular filling phases.|NCI|N|
C0277919|A condition caused by one or more episodes of DEEP VEIN THROMBOSIS, usually the blood clots are lodged in the legs. Clinical features include EDEMA; PAIN; aching; heaviness; and MUSCLE CRAMP in the leg. When severe leg swelling leads to skin breakdown, it is called venous STASIS ULCER.|MSH|N|
C0277928|An innocent murmur with a medium pitched, blowing character with diastolic accentuation heard at the right or left upper sternal border that disappears with jugular venous compression or supine position. (ACC-AHA)|NCI|N|
C0277942|An erythematous (red), flat facial rash that affects the skin in the malar area (over the cheekbones) and extends over the bridge of the nose.|HPO|N|
C0277959|Hair shafts are rough in texture.|HPO|N|
C0277960|Hair that lacks the luster (shine or gleam) of normal hair.|HPO|N|
C0277964|Air trapped in the subcutaneous space. It can be palpated or heard as a crackling or grating sensation under the skin.|NCI|N|
C0278026|Excretion of urine with an acid pH, i.e., having an increased hydrogen ion concentration.|HPO|N|
C0278034|The appearance of the urine having visible material in suspension, i.e., appearing cloudy.|HPO|N|
C0278045|A deviation from the normal odor of the urine.|HPO|N|
C0278056|A pregnancy that is complicated and affected by an abnormal finding or disease condition in either the fetus and/or the mother.|NCI|N|
C0278061|A reduction in the subjective feeling of mental well being.|HPO|N|
C0278076|Habitual, repeated, rapid contraction of certain muscles, resulting in stereotyped individualized actions that can be voluntarily suppressed for only brief periods. They often involve the face, vocal cords, neck, and less often the extremities. Examples include repetitive throat clearing, vocalizations, sniffing, pursing the lips, and excessive blinking. Tics tend to be aggravated by emotional stress. When frequent they may interfere with speech and INTERPERSONAL RELATIONS. Conditions which feature frequent and prominent tics as a primary manifestation of disease are referred to as TIC DISORDERS. (From Adams et al., Principles of Neurology, 6th ed, pp109-10)|MSH|N|
C0278079|A behavioral pattern characterized by a craving for the mood-altering effects of a drug and an overwhelming preoccupation with obtaining and using the drug.|NCI|N|
C0278080|The neuroadaptation of the body to the presence of an opioid, and is characterized by the onset of acute symptoms and signs of withdrawal if the opioid is stopped or an opioid antagonist is administered.|NCI|N|
C0278085|Slow speech.|HPO|N|
C0278090|Premature development of secondary sexual characteristics due to the presence of sex steroids independent of pituitary gonadotropin release.|NCI|N|
C0278106|Inability to ejaculate.|HPO|N|
C0278128|An involuntary, primal response in the neonate in which the arm extends to follow the infant''s gaze, while the opposing arm and leg flex inward.|NCI|N|
C0278133|An involuntary, primal response in the neonate to search for the nipple when the cheek is touched.|NCI|N|
C0278134|Any loss of sensation.|NCI|N|
C0278136|A pattern of sensory loss with selective loss of touch sensation and proprioception without loss of pain and temperature, or vice-versa.|HPO|N|
C0278138|1-3 Mild pain|LNC|N|
C0278139|4-5 Moderate pain|LNC|N|
C0278140|6-7 Severe pain|LNC|N|
C0278144|A sensation of discomfort or distress that is non-specific or without clear boundaries.|NCI|N|
C0278145|An intense sensation of discomfort or distress that is sharp and feels as though a knife has penetrated an anatomical location.|NCI|N|
C0278146|An intense sensation of discomfort or distress that radiates from one location to another sharply.|NCI|N|
C0278151|Sudden, repetitive, nonrhythmic motor movements (spasms), involving the eyes and muscles of the face.|HPO|N|
C0278152|Intermittent clonic or tonic contraction of muscles supplied by facial nerve. Muscles are relaxed in between contractions.|HPO|N|
C0278187|An epileptic seizure where cessation of movement and unresponsiveness are the predominant aspects of the entire seizure, regardless of whether focal, generalized or unknown onset.|SNOMEDCT_US|N|
C0278188|A seizure characterized by elementary visual hallucinations such as flashing or flickering lights/colors, or other shapes, simple patterns, scotomata, or amaurosis as its first clinical manifestation.|HPO|N|
C0278191|Seizures characterized by olfactory phenomena as its first clinical manifestation.|HPO|N|
C0278192|A seizure characterized by taste phenomena including acidic, bitter, salty, sweet, or metallic tastes as its first clinical manifestation.|HPO|N|
C0278193|A rare reflex epilepsy characterized by reading-induced seizures which in most cases present with orofacial/jaw myoclonus possibly extending to the upper limbs but can also manifest as dyslexia or alexia and visual symptoms. In both variants secondary generalized tonic-clonic seizures may evolve if the stimulus is not interrupted. The disease typically begins in the second or third decade of life and may be inherited in an autosomal dominant pattern. It usually takes a benign course with little tendency to spontaneous seizures.|ORDO|N|
C0278207|Fontanelle that is more deeply set than normal. Fontanelles are normally relatively firm and curve only slightly inward. A sunken fontanelle can be a sign of dehydration or marasmus.|HPO|N|
C0278211|Absence of the corneal blinking reflex, which normally induces involuntary blinking of the eyelids following contact of the cornea. The corneal blink reflex is caused by a loop between the trigeminal sensory nerves and the facial motor (VII) nerve innervation of the orbicularis oculi muscles.|HPO|N|
C0278227|The presence of blood in tears.|HPO|N|
C0278457|Outer genital organs are not visually male or female.|SNOMEDCT_US|N|
C0278470|Ann Arbor Classification: Stage I: Involvement of a single lymph node region (I); or localized involvement of a single extralymphatic organ or site in the absence of any lymph node involvement (IE) (rare in Hodgkin lymphoma).|NCI|N|
C0278471|Ann Arbor Classification: Stage II: Involvement of two or more lymph node regions on the same side of the diaphragm (II); or localized involvement of a single extralymphatic organ or site in association with regional lymph node involvement with or without involvement of other lymph node regions on the same side of the diaphragm (IIE).|NCI|N|
C0278472|Ann Arbor Classification: Stage III: Involvement of lymph node regions on both sides of the diaphragm (III), which also may be accompanied by extralymphatic extension in association with adjacent lymph node involvement (IIIE) or by involvement of the spleen (IIIS) or both (IIIE,S).|NCI|N|
C0278473|Ann Arbor Classification: Stage IV: Diffuse or disseminated involvement of one or more extralymphatic organs, with or without associated lymph node involvement; or isolated extralymphatic organ involvement in the absence of adjacent regional lymph node involvement, but in conjunction with disease in distant site(s); or any involvement of the liver or bone marrow, lungs (other than by direct extension from another site), or cerebrospinal fluid.|NCI|N|
C0278479|Stage II includes: IIA (T3, N0, M0); IIB (T4, N0, M0). T3: Tumor invades through the muscularis propria or into non-peritonealized pericolic or perirectal tissues. T4: Tumor directly invades other organs or structures, and/or perforates visceral peritoneum. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th ed.)|NCI|N|
C0278480|Stage III includes: IIIA (T1-T2, N1, M0); IIIB (T3-T4, N1, M0); IIIC (Any T, N2, M0). N1: Metastasis in 1 to 3 regional lymph nodes. N2: Metastasis in 4 or more regional lymph nodes. M0: No distant metastasis. (AJCC 6th ed.)|NCI|N|
C0278485|Stage 1 includes T1, NO, MO. T1: Tumor 2.0 cm or less in greatest dimension. T1mic: Microinvasion 0.1 cm or less in greatest dimension. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th Ed.)-2003|NCI|N|
C0278487|Stage III is divided into two stages IIIA and IIIB. Stage IIIA includes: (T0, N2, M0); (T1, N2, M0); (T2, N2, M0); (T3, N1, M0); (T3, N2, M0). Stage IIIB includes: (T4, any N, M0). T4: Tumor of any size with direct extension to (a) chest wall or (b) skin. N2: Metastases in ipsilateral axillary lymph nodes fixed or matted, or in clinically apparent ipsilateral internal mammary nodes in the absence of clinically evident axillary lymph node metastasis. N3: Metastasis in ipsilateral infraclavicular lymph nodes(s) with or without axillary lymph node involvement, or in clinically apparent ipsilateral internal mammary lymph node(s); and in the presence of clinically evident axillary lymph node metastasis or metastasis in ipsilateral supraclavicular lymph node(s) with or without axillary or internal mammary lymph node involvement. M0: No distant metastasis. (AJCC 6th Ed.)|NCI|N|
C0278489|Stage IIIA includes: (T0, N2, M0); (T1, N2, M0); (T2, N2, M0); (T3, N1, M0); (T3, N2, M0). T0: No evidence of primary tumor. T1: Tumor 20 mm or less in greatest dimension. T1 includes T1mi. T1mi: Tumor 1 mm or less in greatest dimension. T2: Tumor more than 20 mm but not more than 50 mm in greatest dimension. T3: Tumor more than 50 mm in greatest dimension. N1: Metastasis to movable ipsilateral level I, II axillary lymph node(s). N2: Metastases in ipsilateral level I, II axillary lymph nodes that are clinically fixed or matted; or in clinically detected ipsilateral internal mammary nodes in the absence of clinically evident axillary lymph node metastases. M0: No clinical or radiographic evidence of distant metastasis. M0 includes M0(i+). (AJCC 7th Ed.)|NCI|N|
C0278493|The reemergence of carcinoma in the breast after a period of remission|NCI|N|
C0278495|Stage I includes: IA (T1, N0, M0); IB (T2, N0, M0); (T1, N1, M0). T1: Tumor invades lamina propria, muscularis mucosae, or submucosa. T2: Tumor invades the muscularis propria. N0: No regional lymph node metastasis. N1: Metastasis in 1-2 regional lymph nodes. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C0278496|Stage II includes: IIA (T3, N0, M0); (T2, N1, M0); (T1, N2, M0); IIB (T4a, N0, M0); (T3, N1, M0); (T2, N2, M0); (T1, N3, M0). T1: Tumor invades lamina propria, muscularis mucosae, or submucosa. T2: Tumor invades the muscularis propria. T3: Tumor penetrates subserosal connective tissue without invasion of visceral peritoneum or adjacent structures. T4a: Tumor invades serosa (visceral peritoneum). N0: No regional lymph node metastasis. N1: Metastasis in 1-2 regional lymph nodes. N2: Metastasis in 3-6 regional lymph nodes. N3: Metastasis in seven or more regional lymph nodes. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C0278497|Stage III includes: IIIA (T4a, N1, M0); (T3, N2, M0); (T2, N3, M0); IIIB (T4b, N0, M0); (T4b, N1, M0); (T4a, N2, M0); (T3, N3, M0); IIIC (T4b, N2, M0); (T4b, N3, M0); (T4a, N3, M0). T2: Tumor invades the muscularis propria. T3: Tumor penetrates subserosal connective tissue without invasion of visceral peritoneum or adjacent structures. T4a: Tumor invades serosa (visceral peritoneum). T4b: Tumor invades adjacent structures. N0: No regional lymph node metastasis. N1: Metastasis in 1-2 regional lymph nodes. N2: Metastasis in 3-6 regional lymph nodes. N3: Metastasis in seven or more regional lymph nodes. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C0278498|Stage IV includes: (Any T, Any N, M1). M1: Distant metastasis. (AJCC 7th ed.)|NCI|N|
C0278502|The reemergence of gastric carcinoma after a period of remission.|NCI|N|
C0278504|Stage I includes: IA: (T1a, N0, M0); (T1b, N0, M0) and IB: (T2a, N0, M0). T1a: Lung cancer with a tumor size of 2 cm or less n greatest dimension, surrounded by lung or visceral pleura and without bronchoscopic evidence of invasion more proximal than the lobar bronchus (i.e., not in the main bronchus). The uncommon superficial tumor of any size with its invasive component limited to the bronchial wall, which may extend proximal to the main bronchus, is also classified as T1a. T1b: Lung cancer with a tumor size more than 2 cm but 3 cm or less in greatest dimension, surrounded by lung or visceral pleura and without bronchoscopic evidence of invasion more proximal than the lobar bronchus (i.e., not in the main bronchus). T2a: Lung cancer with a tumor size more than 3 cm but 5 cm or less in greatest dimension. N0: No regional lymph metastasis. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C0278505|Stage II includes: IIA (T2b, N0, M0); (T1a, N1, M0); (T1b, N1, M0); (T2a, N1, M0) and IIB (T2b, N1, M0); (T3, N0, M0). T2b: Lung cancer with a tumor size more than 5 cm but 7 cm or less in greatest dimension. T1a: Lung cancer with a tumor size of 2 cm or less in greatest dimension, surrounded by lung or visceral pleura and without bronchoscopic evidence of invasion more proximal than the lobar bronchus (i.e., not in the main bronchus). The uncommon superficial tumor of any size with its invasive component limited to the bronchial wall, which may extend proximal to the main bronchus, is also classified as T1a. T1b: Lung cancer with a tumor size more than 2 cm but 3 cm or less in greatest dimension, surrounded by lung or visceral pleura and without bronchoscopic evidence of invasion more proximal than the lobar bronchus (i.e., not in the main bronchus). T2a: Lung cancer with a tumor size more than 3 cm but 5 cm or less in greatest dimension. T3: Lung cancer with a tumor size more than 7 cm or one that directly invades any of the following: parietal pleural (PL3) chest wall (including superior sulcus tumors), diaphragm, phrenic nerve, mediastinal pleura, parietal pericardium; or tumor in the main bronchus (less than 2 cm distal to the carina but without involvement of the carina); or associated atelectasis or obstructive pneumonitis of the entire lung or separate tumor nodule(s) in the same lobe. N0: No regional lymph node metastasis. N1: Lung cancer with metastasis in ipsilateral peribronchial and/or ipsilateral hilar lymph nodes and intrapulmonary lymph nodes, including involvement by direct extension. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C0278506|Stage III includes: IIIA (T1a, N2, M0); (T1b, N2, M0); (T2a, N2, M0); (T2b, N2, M0); (T3, N1, M0); (T3, N2, M0); (T4, N0, M0); (T4, N1, M0) and IIIB (T1a, N3, M0); (T1b, N3, M0); (T2a, N3, M0); (T2b, N3, M0); (T3, N3, M0); (T4, N2, M0); (T4, N3, M0). T4: Lung cancer with a tumor of any size that invades any of the following: mediastinum, heart, great vessels, trachea, recurrent laryngeal nerve, esophagus, vertebral body, carina, and separate tumor nodule(s) in a different ipsilateral lobe. N1: Lung cancer with metastasis in ipsilateral peribronchial and/or ipsilateral hilar lymph nodes and intrapulmonary lymph nodes, including involvement by direct extension. N2: Lung cancer with metastasis to ipsilateral mediastinal and/or subcarinal lymph nodes. N3: Lung cancer with metastasis to contralateral mediastinal, contralateral hilar, ipsilateral or contralateral scalene, or supraclavicular lymph nodes. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C0278510|A medulloblastoma occurring in children.|NCI|N|
C0278511|Osteosarcoma that is confined to a specific site without evidence of spread to other anatomic sites.|NCI|N|
C0278512|An osteosarcoma which has spread to another anatomical site.|NCI|N|
C0278513|Stage IIIB includes: (T4, N0, M0); (T4, N1, M0); (T4, N2, M0). T4: Tumor of any size with direct extension to the chest wall and/or to the skin (ulceration or skin nodules). N0: No regional lymph node metastasis. N1: Metastasis to movable ipsilateral level I, II axillary lymph node(s). N2: Metastases in ipsilateral level I, II axillary lymph nodes that are clinically fixed or matted; or in clinically detected ipsilateral internal mammary nodes in the absence of clinically evident axillary lymph node metastases. M0: No clinical or radiographic evidence of distant metastasis. M0 includes M0(i+). (AJCC 7th Ed.)|NCI|N|
C0278517|The re-emergence of non-small cell lung carcinoma after a period of remission.|NCI|N|
C0278519|The reemergence of acute lymphoblastic leukemia in childhood after a period of remission.|NCI|N|
C0278530|The reemergence of Hodgkin lymphoma in adulthood after a period of remission.|NCI|N|
C0278544|Stage II includes IIA (T3, N0, M0) and IIB (T4, N0, M0). T3: Tumor invades through the muscularis propria into the subserosa, or into nonperitonealized pericolic or perirectal tissues. T4: Tumor directly invades other organs or structures, and/or perforates the visceral peritoneum. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th ed.)|NCI|N|
C0278545|Stage III includes: IIIA (T1-T2, N0, M0); IIIB (T3-T4, N1, M0); IIIC (Any T, N2, M0). N1: Metastasis in 1 to 3 regional lymph nodes. N2: Metastasis in 4 or more regional lymph nodes. (AJCC 6th ed.)|NCI|N|
C0278553|The reemergence of colon carcinoma after a period of remission.|NCI|N|
C0278554|The reemergence of rectal carcinoma after a period of remission.|NCI|N|
C0278556|The reemergence of anal carcinoma after a period of remission.|NCI|N|
C0278559|Stage I includes: T1, N0, M0. TI: Tumor invades lamina propria or submucosa. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th ed.) -2003|NCI|N|
C0278560|Stage II includes: IIA: (T2, N0, M0); (T3, N0, M0) and IIB: (TI, NI, M0); (T2, NI, M0). TI: Tumor invades lamina propria or submucosa. T2: Tumor invades muscularis propria. T3: Tumor invades adventitia. N0: No regional lymph node metastasis. N1: Regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th ed.) -2003|NCI|N|
C0278561|Stage III includes: T3, N1, M0 and T4, Any N, M0) T3: Tumor invades adventitia. T4: Tumor invades adjacent structures. N0: No regional lymph node metastasis. N1: Regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th ed.) -2003|NCI|N|
C0278567|Stage I includes: IA (T1, N0, M0, B0-1); IB (T2, N0, M0, B0-1). T1: Limited patches, papules, and/or plaques covering less than 10% of the skin surface. May further stratify into T1a (patch only) vs. T1b (plaque +/- patch). T2: Patches, papules, or plaques covering 10% or more of the skin surface. May further stratify into T2a (patch only) vs. T2b (plaque +/- patch). N0: No clinically abnormal peripheral lymph nodes; biopsy not required. M0: No visceral organ involvement. B0: Absence of significant blood involvement: 5% or less of peripheral blood lymphocytes are atypical (Sezary cells). B1: Low blood tumor burden: more than 5% of peripheral blood lymphocytes are atypical (Sezary cells) but does not meet the criteria of B2. (AJCC 7th ed.)|NCI|N|
C0278569|Stage II includes: IIA (T1-2, N1-2, M0, B0-1); IIB (T3, N0-2, M0, B0-1). T1: Limited patches, papules, and/or plaques covering less than 10% of the skin surface. May further stratify into T1a (patch only) vs. T1b (plaque +/- patch). T2: Patches, papules, or plaques covering 10% or more of the skin surface. May further stratify into T2a (patch only) vs. T2b (plaque +/- patch). T3: One or more tumors (equal or greater than 1 cm diameter). N0: No clinically abnormal peripheral lymph nodes; biopsy not required. N1: Clinically abnormal peripheral lymph nodes; histopathology Dutch grade 1 or NCI LN0-2. N2: Clinically abnormal peripheral lymph nodes; histopathology Dutch grade 2 or NCI LN3. M0: No visceral organ involvement. B0: Absence of significant blood involvement: 5% or less of peripheral blood lymphocytes are atypical (Sezary cells). B1: Low blood tumor burden: more than 5% of peripheral blood lymphocytes are atypical (Sezary cells) but does not meet the criteria of B2. (AJCC 7th ed.)|NCI|N|
C0278571|Stage III includes: (T4, N0-2, M0, B0-1); IIIA (T4, N0-2, M0, B0); IIIB (T4, N0-2, M0, B1). T4: Confluence of erythema covering 80% or more of body surface area. N0: No clinically abnormal peripheral lymph nodes; biopsy not required. N1: Clinically abnormal peripheral lymph nodes; histopathology Dutch grade 1 or NCI LN0-2. N2: Clinically abnormal peripheral lymph nodes; histopathology Dutch grade 2 or NCI LN3. M0: No visceral organ involvement. B0: Absence of significant blood involvement: 5% or less of peripheral blood lymphocytes are atypical (Sezary cells). B1: Low blood tumor burden: more than 5% of peripheral blood lymphocytes are atypical (Sezary cells) but does not meet the criteria of B2. (AJCC 7th ed.)|NCI|N|
C0278573|Stage IV includes: IVA1 (T1-4, N0-2, M0, B2); IVA2 (T1-4, N3, M0, B0-2); IVB (T1-4, N0-3, M1, B0-2). T1: Limited patches, papules, and/or plaques covering less than 10% of the skin surface. May further stratify into T1a (patch only) vs. T1b (plaque +/- patch). T2: Patches, papules, or plaques covering 10% or more of the skin surface. May further stratify into T2a (patch only) vs. T2b (plaque +/- patch). T3: One or more tumors (equal or greater than 1 cm diameter). T4: Confluence of erythema covering 80% or more of body surface area. N0: No clinically abnormal peripheral lymph nodes; biopsy not required. N1: Clinically abnormal peripheral lymph nodes; histopathology Dutch grade 1 or NCI LN0-2. N2: Clinically abnormal peripheral lymph nodes; histopathology Dutch grade 2 or NCI LN3. N3: Clinically abnormal peripheral lymph nodes; histopathology Dutch grades 3-4 or NCI LN4; clone positive or negative. M0: No visceral organ involvement. M1: Visceral involvement (must have pathology confirmation and organ involved should be specified). B0: Absence of significant blood involvement: 5% or less of peripheral blood lymphocytes are atypical (Sezary cells). B1: Low blood tumor burden: more than 5% of peripheral blood lymphocytes are atypical (Sezary cells) but does not meet the criteria of B2. B2: High blood tumor burden: 1000/microL Sezary cells or more with positive clone. (AJCC 7th ed.)|NCI|N|
C0278578|Stage IV includes: IVA: (T4, Any N, M0); IVB (Any T, Any N, MI). T4: Tumor invades mucosa of bladder or rectum, and/or extends beyond true pelvis (bullous edema is not sufficient to classify a tumor as T4). M1: Distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C0278579|The reemergence of cervical carcinoma after a period of remission.|NCI|N|
C0278584|A carcinoma that has spread to the cervix from another anatomic site.|NCI|N|
C0278586|Ewing sarcoma that has spread from its original site of growth to another anatomic site.|NCI|N|
C0278590|Ewing sarcoma which has recurred after treatment and/or remission. While initial complete responses are not uncommon, there is a fair chance of relapse as late as one to two decades after initial therapy.|NCI|N|
C0278592|An angiosarcoma occurring in the adult population.|NCI|N|
C0278594|Benign and malignant astrocytomas that arise from astrocytes in the cerebellum. More than 80% of childhood cerebellar astrocytomas are pilocytic astrocytomas which have a favorable prognosis. The remainder are composed of diffuse or fibrillary subtypes with malignant astrocytomas occurring only rarely in the cerebellum during childhood.|NCI|N|
C0278595|A malignant mesenchymal neoplasm composed of fibroblasts. It is characterized by collagen production and a herringbone architectural pattern. It is more commonly seen in middle-aged and older adults. It usually affects the deep soft tissues of extremities, trunk, head and neck. Adult fibrosarcomas may recur and metastasize to the lungs and bones.|NCI|N|
C0278599|An ependymoma that arises from the infratentorial region of the brain and occurs during childhood.|NCI|N|
C0278600|A glioma that arises from the brain stem and occurs during childhood.|NCI|N|
C0278601|An advanced, invasive breast adenocarcinoma characterized by the presence of distinct changes in the overlying skin. These changes include diffuse erythema, edema, peau d''orange (skin of an orange) appearance, tenderness, induration, warmth, enlargement, and in some cases a palpable mass. The skin changes are the consequence of lymphatic obstruction from the underlying invasive breast adenocarcinoma. Microscopically, the dermal lymphatics show prominent infiltration by malignant cells. The invasive breast adenocarcinoma is usually of ductal, NOS type. There is not significant inflammatory cell infiltrate present, despite the name of this carcinoma.|NCI|N|
C0278607|An aggressive malignant smooth muscle neoplasm, occurring in adults. It is characterized by a proliferation of neoplastic spindle cells.|NCI|N|
C0278608|A liposarcoma occurring during adulthood.|NCI|N|
C0278619|A localized malignant neoplasm arising in an extraosseous site. It is composed of clonal (malignant) plasma cells forming a tumor mass. It most frequently involves the oropharynx, nasopharynx, sinuses, and larynx.|NCI|N|
C0278620|A plasma cell neoplasm that is resistant to treatment.|NCI|N|
C0278622|A malignant peripheral nerve sheath tumor occurring during adulthood.|NCI|N|
C0278649|The reemergence of childhood rhabdomyosarcoma after a period of remission.|NCI|N|
C0278650|An ependymoma, not otherwise specified that arises from the supratentorial region of the brain and occurs during childhood.|NCI|N|
C0278652|A craniopharyngioma that occurs during childhood. The vast majority of cases are adamantinomatous craniopharyngiomas. Clinical signs and symptoms include endocrine deficiencies and visual disturbances.|NCI|N|
C0278653|A glioma that arises from the visual pathway and occurs during childhood.|NCI|N|
C0278660|A synovial sarcoma occurring in adults.|NCI|N|
C0278664|A sarcoma that arises from the soft tissues during adulthood and has spread from the original site of growth to another anatomic site.|NCI|N|
C0278665|A soft tissue sarcoma occurring in adults that has recurred after a period of remission.|NCI|N|
C0278675|Stage I includes: T1, N0, M0. T1: Lesions have been divided into T1a and T1b. T1a is defined as tumor 4 cm or less in greatest dimension, limited to the kidney. T1b is defined as tumor greater than 4 cm but not more than 7 cm in greatest dimension, limited to the kidney. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th Eds.)|NCI|N|
C0278676|Stage II includes: T2, N0, M0. T2: Tumor more than 7 cm in greatest dimension limited to the kidney. N0: No regional lymph node metastases. M0: No distant metastasis. (AJCC 6th Ed.)|NCI|N|
C0278677|Stage III includes: (T1, N1, M0); (T2, N1, M0); (T3, N0, M0); (T3, N1, M0); (T3a, N0, M0); (T3a, N1, M0); (T3b, N0, M0); (T3b, N1, M0); (T3c, N0, M0); (T3c, N1, M0). T3: Tumor extends into major veins or invades adrenal gland or perinephric tissues but not beyond Gerota''s fascia. T3a: Tumor directly invades adrenal gland or perirenal and/or renal sinus fat but not beyond Gerota''s fascia. T3b: Tumor grossly extends into the renal vein or its segmental (muscle containing) branches, or vena cava below the diaphragm. T3c: Tumor grossly extends into the vena cava above the diaphragm or invades the wall of the vena cava. N0: No regional lymph node metastases. N1: Metastasis in a single regional lymph node. M0: No distant metastasis. (AJCC 6th Ed.)|NCI|N|
C0278679|A reemergence of renal cell carcinoma after a period of remission.|NCI|N|
C0278680|A parathyroid gland carcinoma that has not spread to other anatomic sites.|NCI|N|
C0278681|A parathyroid gland carcinoma that has spread to other anatomic sites.|NCI|N|
C0278684|The reemergence of parathyroid gland carcinoma after a period of remission.|NCI|N|
C0278685|Stage I includes: T1, N0, M0. T1: Tumor limited to ovaries (one or both). N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C0278686|Stage II includes: T2, N0, M0. T2: Tumor involves one or both ovaries with pelvic extension and/or implants. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C0278687|Stage III includes: T3, N0, M0. T3: Tumor involves one or both ovaries with microscopically confirmed peritoneal metastasis outside pelvis. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C0278688|A carcinoma that arises from the ovary and has metastasized to another anatomic site.|NCI|N|
C0278689|The reemergence of ovarian carcinoma after a period of remission.|NCI|N|
C0278690|The reemergence of brain neoplasm in childhood after a period of remission.|NCI|N|
C0278691|Neuroblastoma that is confined to a specific site and is amenable to surgical removal.|NCI|N|
C0278692|A neuroblastoma confined to a specific anatomic region without evidence of dissemination.|NCI|N|
C0278694|Any primary tumor with dissemination to distant lymph nodes, bone, bone marrow, liver, skin, and/or other organs, except as defined for stage 4S. (cancer.gov)|NCI|N|
C0278695|The reemergence of neuroblastoma after a period of remission.|NCI|N|
C0278698|Stage III includes: IIIA: (T3a, N0, M0); IIIB: (T3b, N0, M0); IIIC: (T4, N0, M0). T3a: Multiple tumors more than 5 cm. T3b: Single tumor or multiple tumors of any size involving a major branch of the portal vein or hepatic vein. T4: Tumors(s) with direct invasion of adjacent organs other than the gallbladder or with perforation of visceral peritoneum. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C0278700|A malignant neoplasm of the liver that occurs during childhood and has recurred after a period of remission.|NCI|N|
C0278701|An adenocarcinoma arising from the stomach glandular epithelium. Gastric carcinoma often produces no specific symptoms when it is superficial and potentially surgically curable, although up to 50% of patients may have nonspecific gastrointestinal complaints such as dyspepsia.|HPO|N|
C0278704|A malignant neoplasm that occurs during childhood. Representative examples include acute leukemias, malignant brain neoplasms, and sarcomas.|NCI|N|
C0278711|Wilms tumor that is found in one kidney and can be completely removed with surgery. (National Wilms Tumor Study Group Staging System)|NCI|N|
C0278712|Wilms tumor that is found in the kidney and in the fat, soft tissue, or blood vessels near the kidney. It may have spread to the renal sinus. The renal sinus is the part of the kidney where blood and fluid enter and exit the organ. The tumor can be completely removed with surgery. (National Wilms Tumor Study Group Staging System)|NCI|N|
C0278713|Wilms tumor that is found in areas near the kidney and cannot be completely removed with surgery. The tumor may have spread to nearby organs and blood vessels or throughout the abdomen and to nearby lymph nodes. Lymph nodes are tiny, bean-shaped organs that help fight infection. Stage III cancer has not spread outside the abdomen. (National Wilms Tumor Study Group Staging System)|NCI|N|
C0278714|Wilms tumor that has spread to other more distant organs, such as the lungs, liver, bones, and brain, or to lymph nodes outside the abdomen (National Wilms Tumor Study Group Staging System)|NCI|N|
C0278715|Wilms tumor that affects both kidneys at the same time. The tumor in each kidney is staged separately (National Wilms Tumor Study Group Staging System)|NCI|N|
C0278716|The reemergence of Wilms tumor of the kidney after a period of remission.|NCI|N|
C0278717|Retinoblastoma restricted to local involvement.|NCI|N|
C0278718|Risk: Low; Findings: Lymphocytosis only; Survival (months): more than 120. (from AJCC 8th Ed.)|NCI|N|
C0278719|Retinoblastoma that has spread beyond the eye e.g. to brain, soft tissue/bone, bone marrow.|NCI|N|
C0278720|The reemergence of retinoblastoma after a period of remission.|NCI|N|
C0278721|A lymphoblastic lymphoma occurring in adults.|NCI|N|
C0278722|Plasma cell myeloma with all of the following: 1. Hemoglobin greater than 10 g/Dl, 2. Normal serum calcium, 3. Normal bone structure, 4. Low monoclonal (or myeloma) protein (M protein) production as shown by: a. IgG less than 5.0 g/dL, b. IgA less than 3.0 g/dL, c. Urinary kappa or lamda less than 4 g/24 hours. Estimated myeloma cell mass: less than 0.6 trillion (1012)/m2 (low burden). The following subclassification of stages is used: a. Creatinine less than 2.0 mg/dL, b. Creatinine greater than or equal to 2.0 mg/dL. Impaired renal function worsens prognosis regardless of stage. Note that the newer International Staging System defines stage I quite differently: Beta-2-microglobulin less than 3.5 and albumin greater than or equal to 3.5 (median survival of 62 months). (PDQ)|NCI|N|
C0278723|Plasma cell myeloma that fits in neither stage I nor stage III. Estimated myeloma cell mass: 0.6 to 1.2 trillion (1012)/m2 (intermediate burden). The following subclassification of stages is used: a. Creatinine less than 2.0 mg/dL, b. Creatinine greater than or equal to 2.0 mg/dL. Impaired renal function worsens prognosis regardless of stage. Note that the newer International Staging System defines stage II quite differently: Beta-2-microglobulin less than 3.5 and albumin less than 3.5 or beta-2-microglobulin 3.5 to less than 5.5 (median survival of 44 months). (PDQ)|NCI|N|
C0278724|Plasma cell myeloma with one or more of the following: 1. Hemoglobin less than 8.5 g/dL. 2. Serum calcium greater than 12.0 mg/dL. 3. More than three lytic bone lesions. 4. High M protein production as shown by: a. IgG greater than 7.0 g/dL. b. IgA greater than 5.0 g/dL. c. Urinary kappa or lamda greater than 12.0 g/24 hours. Estimated myeloma cell mass: greater than 1.2 trillion (1012)/m2 (high burden). The following subclassification of stages is used: a. Creatinine less than 2.0 mg/dL. b. Creatinine greater than or equal to 2.0 mg/dL. Serum beta-2-microglobulin has been shown to be a reliable marker for prognosis. Since the great majority of symptomatic myeloma patients are classified as stage III by the Durie/Salmon criteria, this staging system has not proven to be very useful for identifying the patients with intermediate and poor prognosis. Note that the newer International Staging System defines stage III quite differently: Beta-2-microglobulin greater than or equal to 5.5 (median survival of 29 months). (PDQ)|NCI|N|
C0278725|Small cell lung carcinoma which is confined to one hemi-thorax and the regional lymph nodes.|NCI|N|
C0278726|Small cell lung carcinoma which has spread beyond one hemi-thorax and the regional lymph nodes.|NCI|N|
C0278727|The reemergence of small cell carcinoma of the lung after a period of remission.|NCI|N|
C0278733|Stage IV includes: IVA (T1, N2, M0); (T2, N2, M0); (T3, N2, M0); (T4, Any N, M0); IVB (Any T, Any N, M1). T4: Tumor invades any of the following: upper urethra bladder mucosa, rectal mucosa, or is fixed to the pubic bone. N2: Bilateral regional lymph node metastasis. M1: distant metastasis (including pelvic lymph node metastasis). (AJCC 6th ed.)|NCI|N|
C0278734|The reemergence of vulvar carcinoma after a period of remission.|NCI|N|
C0278735|Stage I: A single tumor or nodal area is involved, excluding the abdomen and mediastinum (from PDQ).|NCI|N|
C0278736|Stage II: Disease extent is limited to a single tumor with regional node involvement, 2 or more tumors or nodal areas involved on one side of the diaphragm, or a primary gastrointestinal tract tumor (completely resected) with or without regional node involvement (from PDQ).|NCI|N|
C0278737|Stage III: Tumors or involved lymph node areas occur on both sides of the diaphragm. Stage III also includes any primary intrathoracic (mediastinal, pleural, or thymic) disease, extensive primary intra-abdominal disease, or any paraspinal or epidural tumors (from PDQ).|NCI|N|
C0278738|Stage IV: Tumors involve bone marrow and/or central nervous system (CNS) regardless of other sites of involvement (from PDQ).|NCI|N|
C0278739|The reemergence of lymphoblastic lymphoma in childhood after a period of remission.|NCI|N|
C0278746|The reemergence of vaginal carcinoma after a period of remission.|NCI|N|
C0278747|Digestive system neuroendocrine tumor G1 that is restricted to the site of origin without evidence of metastasis.|NCI|N|
C0278748|Digestive system neuroendocrine tumor G1 that has not spread to other regions.|NCI|N|
C0278750|The reemergence of digestive system neuroendocrine tumor G1 after a period of remission.|NCI|N|
C0278751|A malignant mesothelioma with the gross appearance of a circumscribed serosal lesion and the microscopic appearance of diffuse malignant mesothelioma, without evidence of diffuse spread.|NCI|N|
C0278752|A malignant mesothelioma that has spread beyond its original site of growth.|NCI|N|
C0278753|The reemergence of malignant mesothelioma after a period of remission|NCI|N|
C0278754|A germ cell tumor of the central nervous system occurring in children.|NCI|N|
C0278761|A B-or T-cell non-Hodgkin lymphoma composed of a mixed-sized lymphocytic population occurring in adults.|NCI|N|
C0278762|A B-or T-cell non-Hodgkin lymphoma composed of a diffuse large cell lymphocytic infiltrate occurring in adults.|NCI|N|
C0278763|A morphologic variant of diffuse large B-cell lymphoma occurring in adults. It is characterized by the presence of large lymphoid cells with abundant cytoplasm and prominent nucleoli.|NCI|N|
C0278764|A Burkitt lymphoma occurring in adults.|NCI|N|
C0278767|Risk: Intermediate; Findings: Lymphocytosis and adenopathy; Survival (months): 95. (from AJCC 8th Ed.)|NCI|N|
C0278769|Risk: High; Findings: Lymphocytosis and hemoglobin less than 11 g/dL; Survival (months): 30. (from AJCC 8th Ed.)|NCI|N|
C0278772|A localized hepatocellular carcinoma or intrahepatic cholangiocarcinoma that occurs during adulthood and it is amenable to surgical resection.|NCI|N|
C0278773|A localized hepatocellular carcinoma or intrahepatic cholangiocarcinoma that occurs during adulthood and it is not amenable to surgical resection.|NCI|N|
C0278775|A hepatocellular carcinoma or intrahepatic cholangiocarcinoma that occurs during adulthood and has recurred after a period of remission.|NCI|N|
C0278776|The reemergence of acute myeloid leukemia in childhood after a period of remission.|NCI|N|
C0278779|The reemergence of osteosarcoma after a period of remission.|NCI|N|
C0278780|The reemergence of acute myeloid leukemia in adults after a period of remission.|NCI|N|
C0278785|The reemergence of acute lymphoblastic leukemia in adults after a period of remission.|NCI|N|
C0278786|The reemergence of brain neoplasm in adulthood after a period of remission.|NCI|N|
C0278787|The reemergence of chronic myelogenous leukemia after a period of remission.|NCI|N|
C0278791|Chronic lymphocytic leukemia that is resistant to treatment.|NCI|N|
C0278796|The reemergence of gestational trophoblastic tumor after a period of remission.|NCI|N|
C0278802|The reemergence of endometrial carcinoma after a period of remission.|NCI|N|
C0278803|A malignant epithelial tumor with a glandular organization that originates in the small intestine.|HPO|N|
C0278804|A malignant epithelial tumor with a glandular organization that originates in the duodenum.|HPO|N|
C0278805|A non-Hodgkin or Hodgkin lymphoma that arises from the small intestine.|NCI|N|
C0278806|A malignant neoplasm that arises from the gallbladder and it has not spread to other anatomic sites.|NCI|N|
C0278807|A carcinoma that arises from the gallbladder and it is not amenable to surgical resection.|NCI|N|
C0278810|A carcinoma that arises from the extrahepatic bile ducts and it has not spread to other anatomic sites.|NCI|N|
C0278811|Extrahepatic bile duct carcinoma that is not amenable to surgical removal.|NCI|N|
C0278812|The reemergence of an extrahepatic bile duct carcinoma after a period of remission.|NCI|N|
C0278818|The reemergence of adrenal cortical carcinoma after a period of remission.|NCI|N|
C0278820|Stage 0 includes: 0a (Ta, N0, M0); 0is (Tis, N0, M0). Ta: Noninvasive papillary carcinoma. Tis: Carcinoma in situ: ""flat tumor"". N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th Eds.)|NCI|N|
C0278822|Stage I includes: T1, N0, M0. T1: Tumor invades subepithelial connective tissue. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C0278823|Stage II includes: (T2a, N0, M0); (T2b, N0, M0). T2a: Tumor invades superficial muscle (inner half). T2b: Tumor invades deep muscle (outer half). N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th Eds.)|NCI|N|
C0278824|Stage III includes: (T3a, N0, M0); (T3b, N0, M0); (T4a, N0, M0). T3a: Tumor microscopically invades perivesical tissue. T3b: Tumor macroscopically invades perivesical tissue (extravesical mass). T4a: Tumor invades prostatic stroma, uterus, vagina. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C0278827|The reemergence of bladder carcinoma after a period of remission.|NCI|N|
C0278828|Stage IV includes the following: T4b, N0, M0; Any T, N1, M0; Any T, N2 M0; Any T, N3 M0; Any T, Any N, M1. T4b: Tumor invades the pelvic wall, abdominal wall. N1: Metastasis in a single lymph node, 2 cm or less in greatest dimension. N2: Metastasis in a single lymph node, more than 2 cm but not more than 5 cm in greatest dimension; or multiple lymph nodes, none more than 5 cm in greatest dimension. N3: Metastasis in a lymph node more than 5 cm in greatest dimension. M1: Distant metastasis. (AJCC 6th Ed.)|NCI|N|
C0278838|Prostate carcinoma reemerging after a period of remission.|NCI|N|
C0278839|A carcinoma of the skin that has recurred after a period of remission.|NCI|N|
C0278840|A diffuse large cell lymphoma occurring in children.|NCI|N|
C0278841|Malignant testicular germ cell tumor reemerging after a period of remission.|NCI|N|
C0278844|An immunoblastic lymphoma (a variant of diffuse large B-cell lymphoma) occurring in children.|NCI|N|
C0278846|A thymoma of any morphologic type that extends beyond the capsule and infiltrates the surrounding tissues.|NCI|N|
C0278847|A morphologically malignant thymoma that is entirely confined within the capsule.|NCI|N|
C0278848|Reemergence of malignant thymoma after a period of remission.|NCI|N|
C0278849|Stage I includes: Under 45 years: Any T, Any N, M0. 45 years and older: T1, N0, M0. T1: Tumor size 2 cm or less in greatest dimension, limited to the thyroid gland. N0: No regional lymph node metastasis. M0: No evidence of distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C0278850|Stage II includes: Under 45 years: Any T, Any N, M1. 45 years and older: T2, N0, M0. T2: Tumor more than 2 cm but not more than 4 cm in greatest dimension, limited to the thyroid gland. N0: No regional lymph node metastasis. M1: Distant metastasis. M0: No evidence of distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C0278851|Stage IV includes: IVA (T4a, N0, M0); (T4a, N1a, M0); (T1, N1b, M0); (T2, N1b, M0); (T3, N1b, M0); (T4a, N1b, M0); IVB (T4b, Any N, M0); IVC (Any T, Any N, M1). T4a: Moderately advanced local disease. Tumor of any size extending beyond the thyroid gland capsule to invade subcutaneous soft tissues, larynx, trachea, esophagus, or recurrent laryngeal nerve. T1: Tumor size 2 cm or less in greatest dimension, limited to the thyroid gland. T2: Tumor more than 2 cm but not more than 4 cm in greatest dimension, limited to the thyroid gland. T3: Tumor more than 4 cm in greatest dimension and limited to the thyroid gland, or tumor of any size with minimal extrathyroid extension (e.g., extension to sternothyroid muscle or perithyroid soft tissues). T4b: Very advanced disease. Tumor invades prevertebral fascia or encases carotid artery or mediastinal vessels. N0: No regional lymph node metastasis. N1a: Metastasis to pretracheal, paratracheal or prelaryngeal/Delphian lymph nodes (Level VI lymph nodes). N1b: Metastasis to unilateral, bilateral or contralateral cervical (Levels I, II, III, IV, or V) or retropharyngeal or superior mediastinal lymph nodes (Level VII). M0: No distant metastasis. M1: Distant metastasis. (AJCC 7th ed.)|NCI|N|
C0278852|Stage I includes: Under 45 years: Any T, Any N, M0. 45 years and older: T1, N0, M0. T1: Tumor size 2 cm or less in greatest dimension, limited to the thyroid gland. N0: No regional lymph node metastasis. M0: No evidence of distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C0278853|Stage II includes: Under 45 years: Any T, Any N, M1. 45 years and older: T2, N0, M0. T2: Tumor more than 2 cm but not more than 4 cm in greatest dimension, limited to the thyroid gland. N0: No regional lymph node metastasis. M1: Distant metastasis. M0: No evidence of distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C0278854|Stage IV includes: IVA (T4a, N0, M0); (T4a, N1a, M0); (T1, N1b, M0); (T2, N1b, M0); (T3, N1b, M0); (T4a, N1b, M0); IVB (T4b, Any N, M0); IVC (Any T, Any N, M1). T4a: Moderately advanced local disease. Tumor of any size extending beyond the thyroid gland capsule to invade subcutaneous soft tissues, larynx, trachea, esophagus, or recurrent laryngeal nerve. T1: Tumor size 2 cm or less in greatest dimension, limited to the thyroid gland. T2: Tumor more than 2 cm but not more than 4 cm in greatest dimension, limited to the thyroid gland. T3: Tumor more than 4 cm in greatest dimension and limited to the thyroid gland, or tumor of any size with minimal extrathyroid extension (e.g., extension to sternothyroid muscle or perithyroid soft tissues). T4b: Very advanced disease. Tumor invades prevertebral fascia or encases carotid artery or mediastinal vessels. N0: No regional lymph node metastasis. N1a: Metastasis to pretracheal, paratracheal or prelaryngeal/Delphian lymph nodes (Level VI lymph nodes). N1b: Metastasis to unilateral, bilateral or contralateral cervical (Levels I, II, III, IV, or V) or retropharyngeal or superior mediastinal lymph nodes (Level VII). M0: No distant metastasis. M1: Distant metastasis. (AJCC 7th ed.)|NCI|N|
C0278861|The reemergence of thyroid gland carcinoma after a period of remission.|NCI|N|
C0278862|An adenoma or carcinoma of the pituitary gland that produces corticotropin.|MONDO|N|
C0278863|An adenoma or carcinoma of the anterior lobe of the pituitary gland that produces prolactin.|MONDO|N|
C0278864|An adenoma of the anterior lobe of the pituitary gland that produces growth hormone. The vast majority of cases are hormonally functioning and are associated with either gigantism or acromegaly.|MONDO|N|
C0278867|Ciliary body and choroid melanoma measuring less than 10 mm in greatest diameter.|NCI|N|
C0278868|Ciliary body and choroid melanoma measuring between 2.5 mm and 10 mm in height and 16 mm or less in basal diameter (medium-sized) or more than 10 mm in height or more than 2 mm in height and more than 16 mm in basal diameter or more than 8 mm in height with optic nerve involvement (large-sized). (Collaborative Ocular Melanoma Study)|NCI|N|
C0278869|A melanoma arising from and extending beyond the structures of the eye.|NCI|N|
C0278870|The reemergence of uveal melanoma after a period of remission.|NCI|N|
C0278873|A brain stem glioma that occurs during adulthood.|NCI|N|
C0278874|An ependymoma occurring in adults.|NCI|N|
C0278875|A craniopharyngioma that occurs during adulthood. It can be either adamantinomatous or papillary. The papillary histologic variant occurs virtually exclusively in adults. Clinical signs and symptoms include visual disturbances and endocrine deficiencies.|NCI|N|
C0278876|A medulloblastoma occurring in adults.|NCI|N|
C0278877|A meningioma that occurs during adulthood.|NCI|N|
C0278878|A glioblastoma occurring in adults.|NCI|N|
C0278879|A Burkitt lymphoma occurring in children.|NCI|N|
C0278880|Stage I includes: IA (T1a, N0, M0); IB (T1b, N0, M0); (T2a, N0, M0). T1a: Melanoma is less than or equal to 1.0mm in thickness with or without ulceration. T1b: Melanoma is less than or equal to 1.0mm in thickness and level IV or V with ulceration. T2a: Melanoma 1.01-2.0 mm in thickness, no ulceration. N0: No regional lymph node metastasis. M0: No distant metastasis.-2003|NCI|N|
C0278882|Stage III includes: (Any T, N1, M0); (Any T, N2, M0); (Any T, N3, M0). N1: Metastasis in one lymph node. N2: Metastasis in two to three regional lymph nodes or intralymphatic regional metastasis without nodal metastases. N3: Metastasis in four or more regional nodes, or matted metastatic nodes, or in-transit metastasis or satellite(s) with metastasis in regional node(s).|NCI|N|
C0278883|A melanoma that has spread from its primary site to another anatomic site. Melanomas frequently metastasize to lymph nodes, liver, lungs, and brain.|NCI|N|
C0278884|The reemergence of a melanoma after a period of remission.|NCI|N|
C0278947|Previous biologic therapy administered as treatment.|NCI|N|
C0278952|The reemergence of nasopharyngeal carcinoma after a period of remission.|NCI|N|
C0278960|An event in a personal medical history indicating that a myocardial infartion has occurred during the previous 6 months.|NCI|N|
C0278962|The two most severe classes of cardiac dysfunction according to a classification system developed by the New York Heart Association to grade cardiovascular function and disability. These classes are defined as follows: Class III - patients with cardiac disease producing marked limitation of activity: comfortable at rest. Less than ordinary physical activity causes symptoms. Class IV - patients with cardiac disease resulting in inability to carry on any physical activity without discomfort. Symptoms may be present even at rest.|NCI|N|
C0278983|Stage IIIA includes: (T1a, N2, M0); (T1b, N2, M0); (T2a, N2, M0); (T2b, N2, M0); (T3, N1, M0); (T3, N2, M0); (T4, N0, M0); (T4, N1, M0). T4: Lung cancer with a tumor of any size that invades any of the following: mediastinum, heart, great vessels, trachea, recurrent laryngeal nerve, esophagus, vertebral body, carina, and separate tumor nodule(s) in a different ipsilateral lobe. N1: Lung cancer with metastasis in ipsilateral peribronchial and/or ipsilateral hilar lymph nodes and intrapulmonary lymph nodes, including involvement by direct extension. N2: Lung cancer with metastasis to ipsilateral mediastinal and/or subcarinal lymph nodes. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C0278984|Stage IIIB includes: (T1a, N3, M0); (T1b, N3, M0); (T2a, N3, M0); (T2b, N3, M0); (T3, N3, M0); (T4, N2, M0); (T4, N3, M0). T4: Lung cancer with a tumor of any size that invades any of the following: mediastinum, heart, great vessels, trachea, recurrent laryngeal nerve, esophagus, vertebral body, carina, and separate tumor nodule(s) in a different ipsilateral lobe. N2: Lung cancer with metastasis to ipsilateral mediastinal and/or subcarinal lymph nodes. N3: Lung cancer with metastasis to contralateral mediastinal, contralateral hilar, ipsilateral or contralateral scalene, or supraclavicular lymph nodes. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C0278985|An osteosarcoma arising from the soft tissue, and occurring in adults.|NCI|N|
C0278987|Stage IV includes: (Any T, Any N, M1a); (Any T, Any N, M1b). M1a: Lung cancer with separate tumor nodule(s) in a contralateral lobe; tumor with pleural nodules or malignant pleural (or pericardial) effusion. M1b: Distant metastasis. (AJCC 7th ed.)|NCI|N|
C0278993|The reemergence of salivary gland carcinoma after a period of remission.|NCI|N|
C0278996|A primary or metastatic malignant neoplasm affecting the head and neck. Representative examples include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma.|NCI|N|
C0279000|A carcinoma that arises from the hepatocytes or intrahepatic bile ducts. The main subtypes are hepatocellular carcinoma (hepatoma) and cholangiocarcinoma.|NCI|N|
C0279014|A germ cell tumor that occurs during childhood.|NCI|N|
C0279023|The synergistic action of two drugs, being greater than the sum of the effects of each used alone.|NCI|N|
C0279065|Lymphomatoid granulomatosis characterized by the presence of a polymorphous lymphoid infiltrate without cytologic atypia. Large lymphocytes are absent or rare. By in situ hybridization, EBV-positive cells are infrequently seen.|NCI|N|
C0279067|Lymphomatoid granulomatosis characterized by the presence of aggregates of neoplastic large B-lymphocytes, usually admixed with pleomorphic and Hodgkin-like cells, in a background of chronic inflammation. Necrotic changes are present and are usually extensive. Grade III lymphomatoid granulomatosis should be approached clinically as a subtype of diffuse large B-cell lymphoma.|NCI|N|
C0279068|A solid neoplasm (e.g., carcinoma, sarcoma) occurring in children.|NCI|N|
C0279070|An oligodendroglioma occurring during adulthood.|NCI|N|
C0279083|Infiltration of the meninges by chronic myelogenous leukemia, BCR-ABL1 positive.|NCI|N|
C0279084|A vascular sarcoma that commonly occurs in the lower extremities. It occurs predominantly in elderly male patients of southern European ancestry. It is characterized by the presence of purple, red-blue, or dark brown macular lesions, plaques and nodules. This disease is usually slow growing, although it can spread to the lungs and the gastrointestinal tract. If necessary, cutaneous lesions can be treated with radiation.|NCI|N|
C0279085|A Kaposi sarcoma that develops after immunosuppressive treatment.|NCI|N|
C0279087|The reemergence of Kaposi sarcoma after a period of remission.|NCI|N|
C0279088|A finding of acute lymphoblastic leukemia in adulthood that has not been treated.|NCI|N|
C0279089|A finding of acute myeloid leukemia in adulthood that has not been treated.|NCI|N|
C0279091|A finding of acute lymphoblastic leukemia in childhood that has not been treated.|NCI|N|
C0279094|A finding of acute myeloid leukemia in adults that is not growing and responds to treatment.|NCI|N|
C0279095|A finding of acute lymphoblastic leukemia in adults that is not growing and responds to treatment.|NCI|N|
C0279096|A finding of acute myeloid leukemia of childhood that is not growing and responds to treatment.|NCI|N|
C0279097|A finding of acute lymphoblastic leukemia in children that is not growing and responds to treatment.|NCI|N|
C0279134|An indicator that a person previously received radiation treatment for the same condition.|NCI|N|
C0279178|Stage III includes: (T3, N0, M0); (T1, N1a, M0); (T2, N1a, M0); (T3, N1a, M0). T3: Tumor greater than 4 cm in greatest dimension and limited to the thyroid gland, or tumor of any size with minimal extrathyroid extension (e.g., extension to sternothyroid muscle or perithyroid soft tissues). T1: Tumor size 2 cm or less in greatest dimension, limited to the thyroid gland. T2: Tumor more than 2 cm but not more than 4 cm in greatest dimension, limited to the thyroid gland. N0: No regional lymph node metastasis. N1a: Metastasis to pretracheal, paratracheal or prelaryngeal/Delphian lymph nodes (Level VI lymph nodes). M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C0279270|Stage 0 includes: Tis, N0, M0. Tis: Carcinoma in situ. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C0279392|A malignant mixed epithelial neoplasm that arises from the ovary and is composed predominantly of serous and endocervical-type mucinous cells.|NCI|N|
C0279456|Temperature elevation, sweating, and red flushed face.|NCI|N|
C0279525|A lymphoblastic lymphoma occurring in children.|NCI|N|
C0279530|A primary or metastatic malignant neoplasm affecting the bone or articular cartilage.|NCI|N|
C0279540|Lymphocyte-depleted classic Hodgkin lymphoma occurring in adults.|NCI|N|
C0279541|Nodular sclerosis classic Hodgkin lymphoma occurring in adults.|NCI|N|
C0279542|Mixed cellularity classic Hodgkin lymphoma occurring in adults.|NCI|N|
C0279543|A myeloproliferative disorder characterized by increased proliferation of the granulocytic cell line without the loss of their capacity to differentiate.|HPO|N|
C0279544|An alveolar soft part sarcoma occurring in adults. The most common site of involvement is the extremity, particularly the deep soft tissues of the thigh.|NCI|N|
C0279545|An epithelioid sarcoma occurring in adults.|NCI|N|
C0279546|An undifferentiated pleomorphic sarcoma that occurs during adulthood.|NCI|N|
C0279547|A malignant hemangiopericytoma occurring in the adult population.|NCI|N|
C0279548|A malignant mesenchymoma occurring in adults.|NCI|N|
C0279549|A chronic myelogenous leukemia which does not have the characteristic t(9;22)(q34;q11.2) translocation but it has either a variant translocation or a cryptic translocation that can not be detected by conventional cytogenetic analysis. In such cases the BCR-ABL1 fusion gene is always detected by RT-PCR, FISH, or Southern blot analysis.|NCI|N|
C0279550|An aggressive malignant mesenchymal neoplasm arising from skeletal muscle in adults.|NCI|N|
C0279556|An invasive breast carcinoma of no special type characterized by the presence of a predominant ductal carcinoma in situ component and a minor component of invasive carcinoma.|NCI|N|
C0279557|An aggressive carcinoma with a poor prognosis characterized by a presence of both malignant squamous cells and glandular cells.|NCI|N|
C0279563|A non-invasive adenocarcinoma of the breast characterized by a proliferation of monomorphic cells completely filling the lumina. The overall lobular architecture is preserved. It is frequently multifocal (90% in some series) and bilateral. It seldom becomes invasive; however there is an increased risk of infiltrating ductal adenocarcinoma.|NCI|N|
C0279564|A breast carcinoma characterized by the presence of a predominant lobular carcinoma in situ component and a minor component of invasive carcinoma.|NCI|N|
C0279565|An infiltrating lobular adenocarcinoma of the breast. The malignant cells lack cohesion and are arranged individually or in a linear manner (Indian files), or as narrow trabeculae within the stroma. The malignant cells are usually smaller than those of ductal carcinoma, are less pleomorphic, and have fewer mitotic figures.|NCI|N|
C0279566|Paget disease of the breast associated with the presence of a usually high grade ductal carcinoma in situ in the lactiferous glands.|NCI|N|
C0279579|A carcinoma that arises from the adrenal cortex and is characterized by the partial or complete loss of adrenal cortical differentiation.|NCI|N|
C0279580|L1 acute lymphoblastic leukemia that occurs during childhood.|NCI|N|
C0279581|L2 acute lymphoblastic leukemia that occurs during childhood.|NCI|N|
C0279582|The leukemic counterpart of Burkitt lymphoma occurring in children. The characteristic Burkitt cells are seen in the bone marrow and the peripheral blood. This is an aggressive leukemia.|NCI|N|
C0279583|An acute lymphoblastic leukemia of T-cell origin occurring in children.|NCI|N|
C0279584|A B acute lymphoblastic leukemia that occurs during childhood.|NCI|N|
C0279585|Non-T non-B acute lymphoblastic leukemia that occurs during childhood.|NCI|N|
C0279586|A non-T, non-B, acute lymphoblastic leukemia in which the lymphoblasts are positive for the common acute lymphoblastic leukemia antigen (CALLA) occurring in children.|NCI|N|
C0279587|Non-T non-B, CALLA negative acute lymphoblastic leukemia that occurs during childhood.|NCI|N|
C0279589|L1 acute lymphoblastic leukemia that occurs during adulthood.|NCI|N|
C0279590|L2 acute lymphoblastic leukemia that occurs during adulthood.|NCI|N|
C0279591|The leukemic counterpart of Burkitt lymphoma occurring in adults. The characteristic Burkitt cells are seen in the bone marrow and the peripheral blood. This is an aggressive leukemia.|NCI|N|
C0279592|An acute T-lymphoblastic leukemia occurring in adults.|NCI|N|
C0279593|A B acute lymphoblastic leukemia that occurs during adulthood.|NCI|N|
C0279594|Non-T non-B acute lymphoblastic leukemia that occurs during adulthood.|NCI|N|
C0279595|A non-T, non-B, acute lymphoblastic leukemia in which the lymphoblasts are positive for the common acute lymphoblastic leukemia antigen (CALLA) occurring in adults.|NCI|N|
C0279597|Non-T non-B, CALLA negative acute lymphoblastic leukemia that occurs during adulthood.|NCI|N|
C0279598|TdT positive acute lymphoblastic leukemia that occurs during adulthood.|NCI|N|
C0279599|TdT negative acute lymphoblastic leukemia that occurs during adulthood.|NCI|N|
C0279600|TdT negative acute lymphoblastic leukemia that occurs during childhood.|NCI|N|
C0279601|TdT positive acute lymphoblastic leukemia that occurs during childhood.|NCI|N|
C0279602|A conventional osteosarcoma characterized by the presence of spindle shaped cells.|NCI|N|
C0279603|An osteosarcoma characterised by the presence of atypical cartilage of variable cellularity. It may or may not be associated with the presence of myxoid areas or focal bone formation.|NCI|N|
C0279604|A term referring to conventional osteosarcomas which do not have a dominant matrix pattern and contain a mixture of osteoid matrix in combination with chondroid matrix and/or collagen fibers.|NCI|N|
C0279606|A rare aggressive malignant hepatic tumour arising from the hepatocytes. It develops mainly in children over 10 years of age, either in a cirrhotic background, or more commonly in a non-cirrhotic background. The main presenting manifestations are abdominal mass with pain, swelling and discomfort, weight loss, and anorexia. Splenomegaly, nausea, vomiting and jaundice are less commonly observed. Metastases to the mediastinal lymph nodes, lungs, brain and bone marrow are common in advanced disease May be associated with congenital diseases such as biliary atresia. The Wnt/beta-catenin pathway is frequently activated via stabilising mutations in beta-catenin: some patients have been found to have mutations in the CTNNB1 (3p21) and MET (7q31) genes. TP53 (17p13.1) gene and the TERT promoter are mutated in 25-30% and 60% of cases respectively.|SNOMEDCT_US|N|
C0279607|A rare carcinoma of the liver characterized by one to several or many nodules occurring anywhere within the liver, composed of neoplastic epithelial cells with hepatocellular differentiation. The vast majority of tumors are associated with chronic liver disease (such as hepatitis B or C, or steatohepatitis) or exposure to a variety of exogenous agents. Patients may present with signs and symptoms related to the tumor, as well as to the underlying condition. Common manifestations include right upper quadrant abdominal pain, weight loss, hepatosplenomegaly, jaundice, and ascites. Symptomatic tumors generally have poor prognosis.|SNOMEDCT_US|N|
C0279608|Wilms tumor of the kidney characterized by the predominance of the epithelial component. The epithelial cells may form papillary and tubular patterns and pseudorosettes.|NCI|N|
C0279609|Wilms tumor of the kidney characterized by the predominance of the blastema component.|NCI|N|
C0279610|Wilms tumor of the kidney characterized by the predominance of the mesenchymal component.|NCI|N|
C0279611|Wilms tumor of the kidney characterized by the presence of blastema, epithelial, and mesenchymal components (triphasic pattern) or a combination of two of them (biphasic pattern).|NCI|N|
C0279612|A poorly circumscribed morphologic variant of rhabdomyosarcoma occurring in children. The neoplasm is characterized by the presence of primitive skeletal muscle in any stage of myogenesis.|NCI|N|
C0279613|An aggressive malignant mesenchymal neoplasm occurring in children. It is characterized by the presence of round cells with myoblastic differentiation, and a fibrovascular stroma resembling an alveolar growth pattern.|NCI|N|
C0279614|A rare aggressive rhabdomyosarcoma occurring in children. The neoplasm is characterized by the presence of bizarre round, spindle, and polygonal cells.|NCI|N|
C0279615|A mixed rhabdomyosarcoma that occurs in children. The neoplasm is composed of embryonic and alveolar components. It is characterized by the presence of spindle cells with myoblastic differentiation and a myxoid and a fibrous stroma.|NCI|N|
C0279619|An acute erythroid leukemia occurring in adults.|NCI|N|
C0279622|An osteosarcoma usually arising from the metaphysis of long bones. It is characterized by the presence of small cells and osteoid production. The prognosis is usually unfavorable.|NCI|N|
C0279623|An acute myeloid leukemia without maturation occurring in adults.|NCI|N|
C0279624|An acute myeloid leukemia with maturation occurring in adults.|NCI|N|
C0279625|An acute promyelocytic leukemia with PML-RARA fusion occurring in adults.|NCI|N|
C0279626|Esophageal squamous cell carcinoma (ESCC) is a type of esophageal carcinoma (EC; see this term) that can affect any part of the esophagus, but is usually located in the upper or middle third.|ORDO|N|
C0279627|An acute myelomonocytic leukemia occurring in adults.|NCI|N|
C0279628|Esophageal adenocarcinoma (EAC) is a sub-type of esophageal carcinoma (EC; see this term) affecting the glandular cells of the lower esophagus at the junction with the stomach.|ORDO|N|
C0279629|An acute monoblastic leukemia occurring in adults.|NCI|N|
C0279630|An acute eosinophilic leukemia occurring in adults.|NCI|N|
C0279631|An acute basophilic leukemia occurring in adults.|NCI|N|
C0279632|An acute megakaryoblastic leukemia occurring in adults.|NCI|N|
C0279633|An adenocarcinoma of the stomach arising on a background of intestinal metaplasia. Microscopically, it is characterized by a glandular pattern and it closely resembles a colonic adenocarcinoma. Grossly, it tends to be nodular, polypoid or ulcerated.|NCI|N|
C0279634|An acute myeloid leukemia without maturation occurring in children.|NCI|N|
C0279635|An adenocarcinoma arising from the stomach. Microscopically, it is characterized by the presence of a diffuse infiltrate, composed of individual adenocarcinoma cells or groups of adenocarcinoma cells in a fibrous or mucoid stroma. Many cells contain mucin droplets, producing a signet-ring configuration.|NCI|N|
C0279636|An acute myeloid leukemia with maturation occurring in children.|NCI|N|
C0279637|A carcinoma that arises from the anus. Anal carcinomas include the anal canal and perianal area (anal margin) carcinomas. Perianal carcinomas are staged separately as skin carcinomas in AJCC v6 and v7 editions. The AJCC v8 edition staging system applies to all carcinomas arising in the anal canal, including carcinomas that arise within anorectal fistulas and those arising in the perianal area (anal margin).|NCI|N|
C0279639|An invasive adenocarcinoma of the colon characterized by the presence of pools of extracellular mucin. Malignant glandular epithelial cells are present in the mucin collections. Mucin constitutes more than 50% of the lesion.|NCI|N|
C0279641|An acute promyelocytic leukemia with PML-RARA fusion occurring in children.|NCI|N|
C0279643|An invasive malignant epithelial tumor that arises from the colon. There is no morphologic, immunophenotypic, or molecular biological evidence of glandular or squamous differentiation.|NCI|N|
C0279644|An acute myelomonocytic leukemia occurring in children.|NCI|N|
C0279645|An acute monoblastic leukemia occurring in children.|NCI|N|
C0279646|An acute monocytic leukemia occurring in children.|NCI|N|
C0279648|An acute eosinophilic leukemia occurring in children.|NCI|N|
C0279649|An acute basophilic leukemia occurring in children.|NCI|N|
C0279650|An acute megakaryoblastic leukemia occurring in children.|NCI|N|
C0279651|An adenocarcinoma arising from the gallbladder. It is the most common malignant tumor of the gallbladder and it is usually well to moderately differentiated. The incidence is higher in patients with gallstones than in patients without gallstones. Signs and symptoms usually present late in the course of the disease and are reminiscent of those of chronic cholecystitis including right upper quadrant pain. Histologic variants include adenocarcinoma of the intestinal type, clear cell adenocarcinoma, mucinous adenocarcinoma, papillary adenocarcinoma, and signet ring adenocarcinoma.|NCI|N|
C0279652|An invasive adenocarcinoma of the rectum characterized by the presence of pools of extracellular mucin. Malignant glandular epithelial cells are present in the mucin collections. Mucin constitutes more than 50% of the lesion.|NCI|N|
C0279653|A carcinoma without evidence of differentiation arising from the gallbladder. The most common variant is the spindle and giant cell type which resembles a sarcoma.|NCI|N|
C0279654|An infiltrating adenocarcinoma arising from the rectum. It is characterized by the presence of malignant glandular cells with prominent intracytoplasmic mucin. These cells constitute more than 50% of the malignant cellular population.|NCI|N|
C0279655|An infiltrating adenocarcinoma of the gallbladder characterized by the presence of metaplastic changes of the malignant glandular cells to squamous cells.|NCI|N|
C0279658|A carcinoma that arises from the gallbladder. It is composed entirely by malignant squamous epithelial cells.|NCI|N|
C0279659|An adenocarcinoma arising from the epithelium of the extrahepatic bile ducts. Signs and symptoms include abdominal pain, anorexia, jaundice, pruritus, nausea and vomiting, and weight loss.|NCI|N|
C0279661|A very rare, malignant, epithelial tumor of the pancreas characterized, macroscopically, by a usually large, well-circumscribed, fully or partially encapsulated, solid mass, often with hemorrhage, necrosis and cystic changes, in any portion of the pancreas and, histologically, by neoplastic cells with variable degrees of differentiation and morphology, ranging from acinar structures similar to normal pancreatic acini to large sheets of poorly differentiated neoplastic cells. Presenting symptoms are typically non-specific and include abdominal pain, weight loss, vomiting, nausea, and/or, less commonly, jaundice. Immunohistochemical evidence of acinar-specific products is observed. Association with Lynch syndrome, familial adenomatous polyposis, and pancreatic panniculitis has been reported.|ORDO|N|
C0279663|A malignant serous cystic epithelial neoplasm arising from the ovary. It is characterized by the presence of glandular, papillary, or solid structures. Psammoma bodies may be present. In well differentiated cases the malignant epithelial cells resemble the cells of fallopian tube epithelium. In poorly differentiated cases the malignant epithelial cells show anaplastic features.|NCI|N|
C0279665|An invasive cystic adenocarcinoma arising from the ovary. It is characterized by the presence of malignant glandular epithelial cells which contain intracytoplasmic mucin. The malignant cells invade the ovarian stroma and the cystic spaces contain mucoid material. In a minority of cases both ovaries are involved by the tumor. The prognosis for stage I tumors is excellent. Patients with metastases usually have a poor prognosis.|NCI|N|
C0279667|A malignant glandular epithelial neoplasm arising from the ovary. It is characterized by the presence of clear and hobnail cells and cystic structures.|NCI|N|
C0279668|An adenocarcinoma arising from the vagina. Morphologic variants include the clear cell, endometrioid, mesonephric, and mucinous adenocarcinoma.|NCI|N|
C0279671|A squamous cell carcinoma arising from the cervical epithelium. It usually evolves from a precancerous cervical lesion. Increased numbers of sexual partners and human papillomavirus (HPV) infection are risk factors for cervical squamous cell carcinoma. Survival is most closely related to the stage of disease at the time of diagnosis.|NCI|N|
C0279672|An adenocarcinoma arising from the endocervical glandular epithelium. It is classified as either human papillomavirus-related or human papillomavirus-independent adenocarcinoma. Histologic variants include usual-type, mucinous, mesonephric, serous, clear cell, and endometrioid adenocarcinoma.|NCI|N|
C0279674|A small cell neuroendocrine carcinoma arising from the cervix.|NCI|N|
C0279680|The presence of a carcinoma of the urinary bladder with origin in a transitional epithelial cell.|HPO|N|
C0279681|A squamous cell carcinoma of the bladder arising from metaplastic epithelium. It represents less than 10% of bladder carcinomas. The exception is the Middle East along the Nile Valley, where it represents the most common form of carcinoma because of the endemic nature of schistosomiasis. Bladder squamous cell carcinoma is often associated with long-standing chronic inflammation of the bladder and usually has a poor prognosis. The diagnosis of squamous cell carcinoma of the bladder should be reserved for those tumors that are predominantly keratin forming.|NCI|N|
C0279682|A rare adenocarcinoma arising from metaplastic bladder epithelium. It is frequently associated with long-standing local irritation. The majority of cases originate from the trigone and the posterior wall of the bladder. This group does not include clear cell and endometrioid adenocarcinomas.|NCI|N|
C0279687|A melanoma arising from the choroid, ciliary body, or the iris. It is characterized by the presence of spindle-shaped melanocytes.|NCI|N|
C0279693|Uveal melanoma characterized by the presence of intermediate cells which are similar to but smaller than epithelioid cells.|NCI|N|
C0279695|A uveal melanoma characterized by the presence of tumor cell necrosis.|NCI|N|
C0279697|A squamous cell carcinoma arising from the salivary glands. The majority of patients are in their sixth through eight decades. It usually presents as a rapidly enlarging mass, which may be painful. It usually has an aggressive clinical course.|NCI|N|
C0279698|A squamous cell carcinoma that arises from the nasopharynx.|NCI|N|
C0279700|A parathyroid gland adenoma composed predominantly of neoplastic cells with clear cytoplasm.|NCI|N|
C0279701|A parathyroid gland adenoma that contains a mixture of neoplastic cells (chief cells, oncocytes, and clear cells).|NCI|N|
C0279702|A subtype of renal cell carcinoma thought to originate from mature renal tubular cells in the proximal tubule of the nehpron.|HPO|N|
C0279703|A renal cell carcinoma with eosinophilic cytoplasm and high nuclear grade. Granular cells can be seen in any subtype of renal cell carcinoma, including conventional clear cell carcinoma. This term does not represent a specific subtype of renal cell carcinoma and should no longer be used.|NCI|N|
C0279704|A type B1 thymoma which is characterized by an aggressive clinical course (capsular invasion, infiltration of the surrounding tissues) and can metastasize.|NCI|N|
C0279705|Also known as well-differentiated thymic carcinoma, atypical thymoma, or epithelial thymoma, this type of thymoma displays morphologic characteristics of a well-differentiated carcinoma. The majority of cases occur in the anterior mediastinum as Masaoka stage II or stage III tumors. It is almost always invasive, it recurs frequently, and metastasizes in approximately 20% of the cases.|NCI|N|
C0279706|A rare, usually aggressive primary thymic carcinoma, characterized by a syncytial growth of undifferentiated carcinoma cells and the presence of a lymphoplasmacytic infiltrate. More than 40% of cases are associated with Epstein-Barr virus infection.|NCI|N|
C0279707|A type A thymoma which is characterized by an aggressive clinical course (capsular invasion, infiltration of the surrounding tissues) and can metastasize.|NCI|N|
C0279708|A non-seminomatous malignant germ cell tumor arising from the testis. It affects infants, young children, and postpubertal males. It is the most frequently seen testicular neoplasm during childhood. The vast majority of patients present with an asymptomatic scrotal mass. The tumor mimics the yolk sac of the embryo and produces alpha-fetoprotein (AFP). It metastasizes to distant anatomic sites. Prognostic factors relate to the clinical stage and the degree of AFP elevation.|NCI|N|
C0279719|An adenoma arising from the beta cells of the pancreas. It produces insulin.|NCI|N|
C0279726|An endocrine neoplasm arising from the delta cells of the pancreas which produce somatostatin. It does not show evidence of vascular invasion or metastasis to other anatomic sites.|NCI|N|
C0279727|A neuroendocrine tumor that arises from the delta cells of the pancreas. It is characterized by inappropriate secretion of somatostatin and associated with diabetes mellitus, hypochlorhydria, gallbladder disease, diarrhea, steatorrhea, anemia, and weight loss. It displays vascular invasion and metastasizes to other anatomic sites.|NCI|N|
C0279730|A benign endocrine neoplasm arising from the alpha cells of the pancreas. It produces glucagon.|NCI|N|
C0279737|A salivary gland carcinoma with low grade histopathologic features. It includes the salivary gland polymorphous low grade adenocarcinoma, salivary gland low grade cribriform cystadenocarcinoma, and low grade salivary gland mucoepidermoid carcinoma. It usually follows a non-aggressive clinical course.|NCI|N|
C0279738|A carcinoma of the salivary gland characterized by serous acinar cell differentiation. The vast majority of cases occur in the parotid gland. It usually presents as a slowly enlarging mass. A minority of patients experience pain. It may recur or metastasize. Multiple recurrences and metastasis to cervical lymph nodes are usually associated with a poor prognosis.|NCI|N|
C0279739|A basal cell carcinoma arising from the lip.|NCI|N|
C0279740|A salivary gland mucoepidermoid carcinoma with low grade histopathologic features. It usually follows a non-aggressive clinical course.|NCI|N|
C0279742|A salivary gland mucoepidermoid carcinoma with intermediate grade histopathologic features.|NCI|N|
C0279743|A usually aggressive salivary gland carcinoma with high grade histopathologic features. It includes the salivary duct carcinoma, salivary gland oncocytic carcinoma, and high grade salivary gland mucoepidermoid carcinoma.|NCI|N|
C0279744|A salivary gland mucoepidermoid carcinoma with high grade histopathologic features. It usually follows an aggressive clinical course.|NCI|N|
C0279746|An adenocarcinoma arising from the salivary gland. It includes the salivary gland polymorphous low grade adenocarcinoma, salivary gland oncocytic carcinoma, salivary gland mucinous adenocarcinoma, salivary gland low grade cribriform cystadenocarcinoma, salivary gland cystadenocarcinoma, salivary gland basal cell adenocarcinoma, salivary gland acinic cell carcinoma, salivary duct carcinoma, and salivary gland adenocarcinoma not otherwise specified.|NCI|N|
C0279748|A nonkeratinizing nasopharyngeal carcinoma characterized by the presence of large cells with vesicular nuclei and prominent nucleoli, a syncytial growth pattern, and a lymphoplasmacytic infiltrate.|NCI|N|
C0279749|A salivary gland carcinoma characterized by the presence of undifferentiated, anaplastic malignant epithelial cells.|NCI|N|
C0279751|An adenoid cystic carcinoma arising from the salivary gland. It is characterized by the presence of epithelial and myoepithelial cells forming tubular, cribriform, and solid patterns. It usually presents as a slow growing mass. Patients may experience pain because of the tumor propensity for perineural invasion. The tumor may follow an aggressive clinical course with recurrences and mestastases to distant sites including lungs, bones, brain, and liver.|NCI|N|
C0279752|Prior to menopause.|NCI|N|
C0279758|Indicates that the test result for estrogen receptor alpha is unknown or the test has not been performed.|NCI|N|
C0279763|An endometrioid adenocarcinoma of the endometrium showing squamous differentiation.|NCI|N|
C0279765|A high-grade endometrial adenocarcinoma characterized by the presence of large neoplastic cells that display at least focal cytoplasmic clearing. The neoplastic cells form papillary, glandular, or sheet-like structures.|NCI|N|
C0279778|A finding of hairy cell leukemia that has not been treated.|NCI|N|
C0279779|A hairy cell leukemia requiring initial treatment because of the presence of signs of progression. Signs of progression include cytopenia (especially if symptomatic), increasing splenomegaly, and infectious complications. Therapy is not necessary if the patients are asymptomatic and the blood counts are maintained in an acceptable range.|NCI|N|
C0279780|The reemergence of hairy cell leukemia after a period of remission.|NCI|N|
C0279784|Presence of one or more lymph nodes in the area of the armpit in which cancerous cells have been detected.|NCI|N|
C0279794|The reemergence of lip and/or oral cavity carcinoma after a period of remission.|NCI|N|
C0279803|The reemergence of a hypopharyngeal malignant neoplasm after a period of remission.|NCI|N|
C0279834|Stage I includes: T1, N0, M0. T1: Tumor 2 cm or less in greatest dimension. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C0279835|Stage II includes: T2, N0, M0. T2: Tumor more than 2 cm but not more than 4 cm in greatest dimension. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C0279838|The reemergence of oropharyngeal carcinoma after a period of remission.|NCI|N|
C0279912|The reemergence of urethral carcinoma after a period of remission|NCI|N|
C0279914|Ann Arbor Classification: Stage II: Involvement of two or more lymph node regions on the same side of the diaphragm (II); or localized involvement of a single extralymphatic organ or site in association with regional lymph node involvement with or without involvement of other lymph node regions on the same side of the diaphragm (IIE).|NCI|N|
C0279915|Ann Arbor Classification: Stage I: Involvement of a single lymph node region (I); or localized involvement of a single extralymphatic organ or site in the absence of any lymph node involvement (IE) (rare in Hodgkin lymphoma).|NCI|N|
C0279916|Ann Arbor Classification: Stage III: Involvement of lymph node regions on both sides of the diaphragm (III), which also may be accompanied by extralymphatic extension in association with adjacent lymph node involvement (IIIE) or by involvement of the spleen (IIIS) or both (IIIE,S).|NCI|N|
C0279917|Ann Arbor Classification: Stage IV: Diffuse or disseminated involvement of one or more extralymphatic organs, with or without associated lymph node involvement; or isolated extralymphatic organ involvement in the absence of adjacent regional lymph node involvement, but in conjunction with disease in distant site(s); or any involvement of the liver or bone marrow, lungs (other than by direct extension from another site), or cerebrospinal fluid.|NCI|N|
C0279918|The reemergence of Hodgkin lymphoma after a period of remission during childhood.|NCI|N|
C0279920|Lymphocyte-depleted classic Hodgkin lymphoma occurring in childhood.|NCI|N|
C0279921|Nodular sclerosis classic Hodgkin lymphoma occurring in childhood.|NCI|N|
C0279922|Mixed cellularity classic Hodgkin lymphoma occurring in childhood.|NCI|N|
C0279930|A primary or metastatic malignant neoplasm involving the anterior portion of the urethra.|NCI|N|
C0279931|A malignant neoplasm that affects the portion of the urethra that is close to the bladder.|NCI|N|
C0279937|A urothelial carcinoma of the renal pelvis and ureter that has spread from its original site of growth to another anatomic site.|NCI|N|
C0279942|A sarcoma that arises from the soft tissues during childhood and has spread from the original site of growth to another anatomic site.|NCI|N|
C0279943|The reemergence of soft tissue sarcoma in childhood after a period of remission.|NCI|N|
C0279954|Ann Arbor Classification: Stage I: Involvement of a single lymph node region (I); or localized involvement of a single extralymphatic organ or site in the absence of any lymph node involvement (IE).|NCI|N|
C0279955|Ann Arbor Classification: Stage I: Involvement of a single lymph node region (I); or localized involvement of a single extralymphatic organ or site in the absence of any lymph node involvement (IE).|NCI|N|
C0279956|Ann Arbor Classification: Stage I: Involvement of a single lymph node region (I); or localized involvement of a single extralymphatic organ or site in the absence of any lymph node involvement (IE).|NCI|N|
C0279958|Stage I: Involvement of a single lymph node region (I) or localized involvement of a single extralymphatic organ or site (IE). (from PDQ)|NCI|N|
C0279959|Stage I: Involvement of a single lymph node region (I) or localized involvement of a single extralymphatic organ or site (IE). (from PDQ)|NCI|N|
C0279960|Stage I: Involvement of a single lymph node region (I) or localized involvement of a single extralymphatic organ or site (IE). (from PDQ)|NCI|N|
C0279961|Ann Arbor Classification: Stage I: Involvement of a single lymph node region (I); or localized involvement of a single extralymphatic organ or site in the absence of any lymph node involvement (IE).|NCI|N|
C0279962|Ann Arbor Classification: Stage I: Involvement of a single lymph node region (I); or localized involvement of a single extralymphatic organ or site in the absence of any lymph node involvement (IE).|NCI|N|
C0279963|Ann Arbor Classification: Stage I: Involvement of a single lymph node region (I); or localized involvement of a single extralymphatic organ or site in the absence of any lymph node involvement (IE).|NCI|N|
C0279971|Stage I includes: (T1, N0, M0). T1: Tumor limited to ovaries (one or both). N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th Eds.)|NCI|N|
C0279972|Stage II includes: T2, N0, M0. T2: Tumor involves one or both ovaries with pelvic extension and/or implants. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C0279973|Stage III includes: T3, N0, M0. T3: Tumor involves one or both both ovaries with microscopically confirmed peritoneal metastasis outside pelvis. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C0279975|The reemergence of ovarian germ cell tumor after a period of remission.|NCI|N|
C0279980|Extraskeletal Ewing sarcoma is a rare, poorly differentiated, highly malignant, soft tissue tumor, derived from neuroectoderm, that is morphologically indistinguishable from skeletal Ewing sarcoma but is located in extraosseous locations, with the most common being: chest wall, paravertebral region, abdominopelvic area (with predilection for the retroperitoneal space), gluteal region and lower extremities. Clinical presentation is highly variable and depends on tumor localization. Local recurrence is common and metastatic disease most frequently involves the bones and lungs.|ORDO|N|
C0279981|A malignant neoplasm arising from the deep soft tissues in children. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern.|NCI|N|
C0279982|A synovial sarcoma occurring in childhood.|NCI|N|
C0279983|A malignant hemangiopericytoma occurring in childhood.|NCI|N|
C0279984|A liposarcoma occurring during childhood.|NCI|N|
C0279985|An alveolar soft part sarcoma occurring in children. The most common site of involvement is the head and neck, particularly the orbit and tongue.|NCI|N|
C0279986|An aggressive malignant smooth muscle neoplasm, occurring in children. It is characterized by a proliferation of neoplastic spindle cells.|NCI|N|
C0279987|A malignant peripheral nerve sheath tumor occurring in children.|NCI|N|
C0279988|An angiosarcoma occurring in childhood.|NCI|N|
C0279989|An epithelioid sarcoma occurring in childhood.|NCI|N|
C0279991|A malignant mesenchymoma occurring in children.|NCI|N|
C0279999|The reemergence of non-Hodgkin lymphoma in adults after a period of remission.|NCI|N|
C0280028|A rare hematologic disease characterized by the presence of 20-29% blasts in the bone marrow, presence of 5-29% blasts in the peripheral blood, and/or presence of Auer rods. Patients show relatively stable peripheral blood counts for weeks or months, with specific cytogenetic and molecular genetic characteristics constituting important prognostic factors.|ORDO|N|
C0280089|A malignant neuroendocrine tumor of the lung. According to histopathologic criteria (WHO 2004), carcinoids are divided into four groups i.e. typical and atypical carcinoids, large cell neuroendocrine carcinoma and small cell lung carcinoma.|HPO|N|
C0280096|An adenocarcinoma which has metastasized from an unknown primary anatomic site.|NCI|N|
C0280097|A squamous cell carcinoma which has metastasized to another anatomic site and the original site of growth has not been identified.|NCI|N|
C0280098|An undifferentiated carcinoma which has metastasized to another anatomic site and the original site of growth has not been identified.|NCI|N|
C0280099|A solid neoplasm (e.g., carcinoma, sarcoma) occurring in adults.|NCI|N|
C0280100|A benign or malignant neoplasm arising from tissues that do not include fluid areas. Representative examples include epithelial neoplasms (e.g. lung carcinoma, prostate carcinoma, breast carcinoma, colon carcinoma), and neoplasms arising from the soft tissues and bones (e.g. leiomyosarcoma, liposarcoma, chondrosarcoma, osteosarcoma). Neoplasms originating from the blood or bone marrow (leukemias and myeloproliferative disorders) are not considered solid tumors.|NCI|N|
C0280114|Ann Arbor Classification: Stage I: Involvement of a single lymph node region (I); or localized involvement of a single extralymphatic organ or site in the absence of any lymph node involvement (IE).|NCI|N|
C0280115|Ann Arbor Classification: Stage II: Involvement of two or more lymph node regions on the same side of the diaphragm (II); or localized involvement of a single extralymphatic organ or site in association with regional lymph node involvement with or without involvement of other lymph node regions on the same side of the diaphragm (IIE). The number of regions involved may be indicated by a subscript (e.g., II3).|NCI|N|
C0280116|Ann Arbor Classification: Stage III: Involvement of lymph node regions on both sides of the diaphragm (III), which also may be accompanied by extralymphatic extension in association with adjacent lymph node involvement (IIIE) or by involvement of the spleen (IIIS) or both (IIIE,S).|NCI|N|
C0280117|Ann Arbor Classification: Stage IV: Diffuse or disseminated involvement of one or more extralymphatic organs, with or without associated lymph node involvement; or isolated extralymphatic organ involvement in the absence of adjacent regional lymph node involvement, but in conjunction with disease in distant site(s); or any involvement of the liver or bone marrow, lungs (other than by direct extension from another site), or cerebrospinal fluid.|NCI|N|
C0280131|The presence of a teratoma in the ovary.|HPO|N|
C0280134|A teratoma of the ovary composed exclusively or predominantly of a single type of tissue derived from the ectoderm or endoderm. A representative example is struma ovarii which is a teratoma composed exclusively or predominantly of thyroid tissue.|NCI|N|
C0280135|An ovarian malignant germ cell tumor characterized by the presence of at least two different germ cell tumor components. The most common combination of germ cell tumors is dysgerminoma and yolk sac tumor.|NCI|N|
C0280141|A rare acute leukaemia of ambiguous lineage characterised by clonal proliferation of primitive haematopoietic cells, primarily in the bone marrow and blood, lacking lineage-specific markers and detectable genotypic alterations. The patient presents with leucocytosis, anaemia, variable platelet count and a variety of nonspecific symptoms related to ineffective haematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (lymphadenopathy, splenomegaly, hepatomegaly).|SNOMEDCT_US|N|
C0280143|Ann Arbor Classification: Stage II: Involvement of two or more lymph node regions on the same side of the diaphragm (II); or localized involvement of a single extralymphatic organ or site in association with regional lymph node involvement with or without involvement of other lymph node regions on the same side of the diaphragm (IIE).|NCI|N|
C0280144|Ann Arbor Classification: Stage II: Involvement of two or more lymph node regions on the same side of the diaphragm (II); or localized involvement of a single extralymphatic organ or site in association with regional lymph node involvement with or without involvement of other lymph node regions on the same side of the diaphragm (IIE).|NCI|N|
C0280146|Ann Arbor Classification: Stage II: Involvement of two or more lymph node regions on the same side of the diaphragm (II); or localized involvement of a single extralymphatic organ or site in association with regional lymph node involvement with or without involvement of other lymph node regions on the same side of the diaphragm (IIE).|NCI|N|
C0280147|Stage II: Involvement of two or more lymph node regions on the same side of the diaphragm (II) or localized involvement of a single associated extralymphatic organ or site and its regional lymph nodes with or without other lymph node regions on the same side of the diaphragm (IIE). Note: The number of lymph node regions involved may be indicated by a subscript (e.g., II3). (from PDQ)|NCI|N|
C0280148|Stage II: Involvement of two or more lymph node regions on the same side of the diaphragm (II) or localized involvement of a single associated extralymphatic organ or site and its regional lymph nodes with or without other lymph node regions on the same side of the diaphragm (IIE). Note: The number of lymph node regions involved may be indicated by a subscript (e.g., II3). (from PDQ)|NCI|N|
C0280149|Stage II: Involvement of two or more lymph node regions on the same side of the diaphragm (II) or localized involvement of a single associated extralymphatic organ or site and its regional lymph nodes with or without other lymph node regions on the same side of the diaphragm (IIE). Note: The number of lymph node regions involved may be indicated by a subscript (e.g., II3). (from PDQ)|NCI|N|
C0280151|Ann Arbor Classification: Stage II: Involvement of two or more lymph node regions on the same side of the diaphragm (II); or localized involvement of a single extralymphatic organ or site in association with regional lymph node involvement with or without involvement of other lymph node regions on the same side of the diaphragm (IIE). The number of regions involved may be indicated by a subscript (e.g., II3).|NCI|N|
C0280152|Stage II: Involvement of two or more lymph node regions on the same side of the diaphragm (II) or localized involvement of a single associated extralymphatic organ or site and its regional lymph nodes with or without other lymph node regions on the same side of the diaphragm (IIE). Note: The number of lymph node regions involved may be indicated by a subscript (e.g., II3). (from PDQ)|NCI|N|
C0280153|Ann Arbor Classification: Stage II: Involvement of two or more lymph node regions on the same side of the diaphragm (II); or localized involvement of a single extralymphatic organ or site in association with regional lymph node involvement with or without involvement of other lymph node regions on the same side of the diaphragm (IIE).|NCI|N|
C0280156|Ann Arbor Classification: Stage III: Involvement of lymph node regions on both sides of the diaphragm (III), which also may be accompanied by extralymphatic extension in association with adjacent lymph node involvement (IIIE) or by involvement of the spleen (IIIS) or both (IIIE,S).|NCI|N|
C0280157|Ann Arbor Classification: Stage III: Involvement of lymph node regions on both sides of the diaphragm (III), which also may be accompanied by extralymphatic extension in association with adjacent lymph node involvement (IIIE) or by involvement of the spleen (IIIS) or both (IIIE,S).|NCI|N|
C0280159|Ann Arbor Classification: Stage III: Involvement of lymph node regions on both sides of the diaphragm (III), which also may be accompanied by extralymphatic extension in association with adjacent lymph node involvement (IIIE) or by involvement of the spleen (IIIS) or both (IIIE,S).|NCI|N|
C0280160|Stage III: Involvement of lymph node regions on both sides of the diaphragm (III) that may also be accompanied by localized involvement of an extralymphatic organ or site (IIIE), by involvement of the spleen (IIIS), or both (IIIS+E). (from PDQ)|NCI|N|
C0280161|Stage III: Involvement of lymph node regions on both sides of the diaphragm (III) that may also be accompanied by localized involvement of an extralymphatic organ or site (IIIE), by involvement of the spleen (IIIS), or both (IIIS+E). (from PDQ)|NCI|N|
C0280162|Stage III: Involvement of lymph node regions on both sides of the diaphragm (III) that may also be accompanied by localized involvement of an extralymphatic organ or site (IIIE), by involvement of the spleen (IIIS), or both (IIIS+E). (from PDQ)|NCI|N|
C0280164|Ann Arbor Classification: Stage III: Involvement of lymph node regions on both sides of the diaphragm (III), which also may be accompanied by extralymphatic extension in association with adjacent lymph node involvement (IIIE) or by involvement of the spleen (IIIS) or both (IIIE,S).|NCI|N|
C0280165|Ann Arbor Classification: Stage III: Involvement of lymph node regions on both sides of the diaphragm (III), which also may be accompanied by extralymphatic extension in association with adjacent lymph node involvement (IIIE) or by involvement of the spleen (IIIS) or both (IIIE,S).|NCI|N|
C0280166|Ann Arbor Classification: Stage III: Involvement of lymph node regions on both sides of the diaphragm (III), which also may be accompanied by extralymphatic extension in association with adjacent lymph node involvement (IIIE) or by involvement of the spleen (IIIS) or both (IIIE,S).|NCI|N|
C0280169|Ann Arbor Classification: Stage IV: Diffuse or disseminated involvement of one or more extralymphatic organs, with or without associated lymph node involvement; or isolated extralymphatic organ involvement in the absence of adjacent regional lymph node involvement, but in conjunction with disease in distant site(s); or any involvement of the liver or bone marrow, lungs (other than by direct extension from another site), or cerebrospinal fluid.|NCI|N|
C0280170|Ann Arbor Classification: Stage IV: Diffuse or disseminated involvement of one or more extralymphatic organs, with or without associated lymph node involvement; or isolated extralymphatic organ involvement in the absence of adjacent regional lymph node involvement, but in conjunction with disease in distant site(s); or any involvement of the liver or bone marrow, lungs (other than by direct extension from another site), or cerebrospinal fluid.|NCI|N|
C0280172|Ann Arbor Classification: Stage IV: Diffuse or disseminated involvement of one or more extralymphatic organs, with or without associated lymph node involvement; or isolated extralymphatic organ involvement in the absence of adjacent regional lymph node involvement, but in conjunction with disease in distant site(s); or any involvement of the liver or bone marrow, lungs (other than by direct extension from another site), or cerebrospinal fluid.|NCI|N|
C0280173|Stage IV: Disseminated (multifocal) involvement of one or more extralymphatic sites with or without associated lymph node involvement or isolated extralymphatic organ involvement with distant (nonregional) nodal involvement. (PDQ)|NCI|N|
C0280174|Stage IV: Disseminated (multifocal) involvement of one or more extralymphatic sites with or without associated lymph node involvement or isolated extralymphatic organ involvement with distant (nonregional) nodal involvement. (PDQ)|NCI|N|
C0280175|Stage IV: Disseminated (multifocal) involvement of one or more extralymphatic sites with or without associated lymph node involvement or isolated extralymphatic organ involvement with distant (nonregional) nodal involvement. (PDQ)|NCI|N|
C0280177|Ann Arbor Classification: Stage IV: Diffuse or disseminated involvement of one or more extralymphatic organs, with or without associated lymph node involvement; or isolated extralymphatic organ involvement in the absence of adjacent regional lymph node involvement, but in conjunction with disease in distant site(s); or any involvement of the liver or bone marrow, lungs (other than by direct extension from another site), or cerebrospinal fluid.|NCI|N|
C0280178|Ann Arbor Classification: Stage IV: Diffuse or disseminated involvement of one or more extralymphatic organs, with or without associated lymph node involvement; or isolated extralymphatic organ involvement in the absence of adjacent regional lymph node involvement, but in conjunction with disease in distant site(s); or any involvement of the liver or bone marrow, lungs (other than by direct extension from another site), or cerebrospinal fluid.|NCI|N|
C0280179|Ann Arbor Classification: Stage IV: Diffuse or disseminated involvement of one or more extralymphatic organs, with or without associated lymph node involvement; or isolated extralymphatic organ involvement in the absence of adjacent regional lymph node involvement, but in conjunction with disease in distant site(s); or any involvement of the liver or bone marrow, lungs (other than by direct extension from another site), or cerebrospinal fluid.|NCI|N|
C0280182|The reemergence of grade 1 follicular lymphoma after a period of remission.|NCI|N|
C0280183|The reemergence of grade 2 follicular lymphoma after a period of remission.|NCI|N|
C0280185|The reemergence of grade 3 follicular lymphoma after a period of remission.|NCI|N|
C0280186|The reemergence of adult diffuse small cleaved cell lymphoma after a period of remission.|NCI|N|
C0280187|The reemergence of adult diffuse mixed cell lymphoma after a period of remission.|NCI|N|
C0280188|The reemergence of adult diffuse large cell lymphoma after a period of remission.|NCI|N|
C0280190|The reemergence of adult immunoblastic lymphoma after a period of remission.|NCI|N|
C0280191|The reemergence of adult lymphoblastic lymphoma after a period of remission.|NCI|N|
C0280192|The reemergence of adult Burkitt lymphoma after a period of remission.|NCI|N|
C0280240|Urothelial carcinoma of the renal pelvis or ureter that has not spread to adjacent tissues, regional lymph nodes, or distant anatomic sites.|NCI|N|
C0280281|Urothelial carcinoma of the renal pelvis or ureter that has spread to adjacent tissues and/or regional lymph nodes but not to distant anatomic sites.|NCI|N|
C0280297|A squamous cell carcinoma arising from the lip or the oral cavity. The oral cavity squamous cell carcinoma usually arises from the buccal mucosa, tongue, or gums. It occurs predominantly in adults who use tobacco and alcohol and has a tendency to metastasize early to lymph nodes.|NCI|N|
C0280298|A squamous cell carcinoma that arises from the anterior two-thirds of the tongue. It usually presents as a painful ulcerated or nodular lesion.|NCI|N|
C0280299|A squamous cell carcinoma of the oral cavity that arises from the buccal mucosa.|NCI|N|
C0280300|A squamous cell carcinoma of the oral cavity that arises from the floor of the mouth.|NCI|N|
C0280301|A squamous cell carcinoma that arises from the hard palate. It usually presents as a papillary or exophytic mass.|NCI|N|
C0280302|A rare head and neck tumor characterized by a firm infiltrative neoplasm with squamous differentiation, most commonly arising at the vermilion border of the lower lip. Patients present with a usually asymptomatic lesion of variable appearance, such as ulceration, a focus of whitish thickening, a dry atrophic area, or an area of persistent chapping and localized flaking and crusting. Carcinomas of the lower lip tend to progress slowly (as opposed to those of the upper lip). Invasion of adjacent structures, including perineural spread, is typical, with a variable rate of metastasis, depending on the location.|ORDO|N|
C0280303|A squamous cell carcinoma of the oral cavity that arises from the lower gingiva.|NCI|N|
C0280304|A squamous cell carcinoma that arises from the retromolar trigone. Pain, often radiating to the ear, is the presenting symptom. The prognosis is poor.|NCI|N|
C0280305|A squamous cell carcinoma of the oral cavity that arises from the upper gingiva.|NCI|N|
C0280306|A well differentiated squamous cell carcinoma arising from the oral cavity. It is an exophytic, warty, slow growing tumor, usually affecting older males. Chronic use of smokeless tobacco is associated with the development of verrucous carcinoma in the oral cavity. Five year disease-free survival rates between 80% and 90% have been reported in patients who underwent extensive surgical removal of the tumor.|NCI|N|
C0280307|A verrucous carcinoma of the oral cavity that arises from the buccal mucosa.|NCI|N|
C0280308|A verrucous carcinoma of the oral cavity that arises from the lower gingiva.|NCI|N|
C0280309|A mucoepidermoid carcinoma arising from the minor salivary glands in the oral cavity. It is often asymptomatic and detected during a routine dental examination.|NCI|N|
C0280310|A mucoepidermoid carcinoma of the oral cavity that arises from the floor of the mouth.|NCI|N|
C0280311|An adenoid cystic carcinoma arising from the minor salivary glands in the oral cavity.|NCI|N|
C0280312|An adenoid cystic carcinoma of the oral cavity that arises from the floor of the mouth.|NCI|N|
C0280313|A squamous cell carcinoma that originates in the oropharnyx.|HPO|N|
C0280315|A squamous cell carcinoma that arises from the base of the tongue. It usually presents as a painful ulcerated lesion.|NCI|N|
C0280317|A squamous cell carcinoma that arises from the mucosal lining of the tonsil and tends to metastasize early to the lymph nodes. It predominantly affects middle aged and elderly patients who have a history of alcohol and tobacco use. Patients may present with tonsillar swelling, sore throat, pain radiating to the ipsilateral ear, or a neck mass.|NCI|N|
C0280318|A non-keratinizing carcinoma arising from the oropharynx. It is characterized by the presence of large malignant cells with vesicular nuclei, prominent nucleoli, syncytial growth pattern, and a lymphoplasmacytic infiltrate.|NCI|N|
C0280321|A rare head and neck tumor characterized by a malignant epithelial neoplasm with evidence of squamous differentiation, most commonly located in the piriform sinus, less frequently the posterior pharyngeal wall or the postcricoid area. The tumor can spread directly to adjacent structures or metastasize via lymphatic and blood vessels to regional lymph nodes, or lung, liver, and bones, respectively. Primary risk factors are tobacco smoking and (to a lesser extent) alcohol consumption. Patients may present with odynophagia, dysphagia, signs and symptoms related to a neck mass, voice changes, otalgia, and constitutional symptoms.|ORDO|N|
C0280322|A squamous cell carcinoma of the hypopharynx that arises from the postcricoid region.|NCI|N|
C0280324|A rare head and neck tumor characterized by a malignant epithelial neoplasm with evidence of squamous differentiation, most commonly located in the supraglottis or glottis. The tumor can spread directly to adjacent structures or metastasize via lymphatic and blood vessels to regional lymph nodes, or lung, liver, and bones, respectively. Primary risk factors are tobacco smoking and (to a lesser extent) alcohol consumption. Patients may present with hoarseness, dyspnea, stridor, dysphagia, hemoptysis, or odynophagia.|ORDO|N|
C0280325|A squamous cell carcinoma of the larynx that arises from the glottic area. It may remain localized for a long period then in late disease stage, it may spread to the opposite true vocal cord, supraglottic and subglottic areas, and the soft tissues of the neck. Hoarseness is the presenting symptom.|NCI|N|
C0280326|A squamous cell carcinoma of the larynx that arises from the subglottic area. Symptoms include dyspnea and stridor. It spreads to the hypopharynx, trachea, and thyroid gland.|NCI|N|
C0280328|A well differentaited, non-metastasizing squamous cell carcinoma arising from the larynx. It is an exophytic, warty, and slow growing tumor affecting predominantly older men. It is associated with tobacco smoking. Symptoms include hoarseness, airway obstruction, weight loss, dysphagia, and throat pain. If left untreated, it may cause extensive local destruction.|NCI|N|
C0280329|An exophytic, slow growing, well differentiated and non-metastasizing squamous cell carcinoma with pushing margins that arises from the glottic area of the larynx. It usually presents with hoarseness.|NCI|N|
C0280330|An exophytic, slow growing, well differentiated and non-metastasizing squamous cell carcinoma with pushing margins that arises from the subglottic area of the larynx.|NCI|N|
C0280331|An exophytic, slow growing, well differentiated and non-metastasizing squamous cell carcinoma with pushing margins that arises from the supraglottic area of the larynx.|NCI|N|
C0280332|A rare, keratinizing or non-keratinizing squamous cell carcinoma arising from the mucosal epithelium of the nasal cavity or the paranasal sinuses. It affects most often the maxillary sinus. Less frequently, it arises from the nasal cavity, ethmoid sinus, sphenoid sinus, and frontal sinus. Symptoms include nasal fullness, epistaxis, rhinorhea, pain, and paresthesia. Patients with nasal squamous cell carcinoma usually present earlier than patients with maxillary sinus carcinoma and have a better prognosis compared to the latter group.|NCI|N|
C0280333|A squamous cell carcinoma that arises from the nasal cavity mucosa. Signs and symptoms include nasal fullness and obstruction, pain, epistaxis, and the presence of a nasal mass.|NCI|N|
C0280334|A rare head and neck tumor characterized by a malignant epithelial neoplasm most commonly arising in the maxillary sinus or nasal cavity, occurring as a keratinizing, a non-keratinizing, or a spindle cell (sarcomatoid) type. Patients may present with nasal obstruction, epistaxis, rhinorrhea, swelling, or (at more advances stages) with facial pain and/or paralysis, diplopia, and proptosis. Patients with paranasal sinus tumors present later and at a higher stage than patients with nasal cavity carcinomas. Risk factors are smoking and industrial exposures. High-risk HPV is most frequently associated with the non-keratinizing type.|ORDO|N|
C0280336|A benign neoplasm that arises from the ciliated respiratory mucosa that lines the nasal cavity. It results from the invagination and proliferation of epithelial cells in the underlying stroma. Clinical manifestations include nasal obstruction, epistaxis, and anosmia. It has the tendency to recur and extend to adjacent structures. Inverted papillomas are occasionally associated with the development or presence of carcinomas, usually squamous cell carcinomas.|NCI|N|
C0280337|A benign neoplasm that arises from the ciliated respiratory mucosa that lines the paranasal sinuses. It results from the invagination and proliferation of epithelial cells in the underlying stroma.|NCI|N|
C0280343|Stage I includes: T1, N0, M0. T1: Tumor 2 cm or less in greatest dimension. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C0280346|Stage I includes: T1, N0, M0. T1: Tumor 2 cm or less in greatest dimension. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C0280347|Stage I includes: T1, N0, M0. T1: Tumor 2 cm or less in greatest dimension. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C0280348|Stage II includes: T2, N0, M0. T2: Tumor more than 2 cm but not more than 4 cm in greatest dimension. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C0280351|Stage II includes: T2, N0, M0. T2: Tumor more than 2 cm but not more than 4 cm in greatest dimension. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C0280352|Stage II includes: T2, N0, M0. T2: Tumor more than 2 cm but not more than 4 cm in greatest dimension. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C0280353|Stage III includes: (T3, N0, M0); (T1, N1, M0); (T2, N1, M0); (T3, N1, M0). T3: Tumor more than 4 cm in greatest dimension. N1: Metastasis in a single ipsilateral lymph node, 3 cm or less in greatest dimension. M0: No distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C0280356|Stage III includes: (T3, N0, M0); (T1, N1, M0); (T2, N1, M0); (T3, N1, M0). T3: Tumor more than 4 cm in greatest dimension. N1: Metastasis in a single ipsilateral lymph node, 3 cm or less in greatest dimension. M0: No distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C0280357|Stage III includes: (T3, N0, M0); (T1, N1, M0); (T2, N1, M0); (T3, N1, M0). T3: Tumor more than 4 cm in greatest dimension. N1: Metastasis in a single ipsilateral lymph node, 3 cm or less in greatest dimension. M0: No distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C0280358|Stage IV includes: IVA (T4a, N0, M0); (T4a, N1, M0); (T1, N2, M0); (T2, N2, M0); (T3, N2, M0); (T4a, N2, M0);. IVB (Any T, N3, M0); (T4b, Any N, M0); IVC (Any T, Any N, M1). T4a (lip): Tumor invades through cortical bone, inferior alveolar nerve, floor of mouth, or skin of face, i.e., chin or nose. T4a (oral cavity): Tumor invades adjacent structures (e.g., through cortical bone, into deep [extrinsic] muscles of tongue, maxillary sinus, skin of face). T4b: Tumor invades masticator space, pterygoid plates, or skull base and/or encases internal carotid artery. N2: Metastasis in a single ipsilateral lymph node, more than 3 cm but not more than 6 cm in greatest dimension; or in multiple ipsilateral lymph nodes, none more than 6 cm in greatest dimension; or in bilateral or contralateral lymph nodes, none more than 6 cm in greatest dimension. N2a: Metastasis in a single ipsilateral lymph node more than 3 cm but not more than 6 cm in dimension. N2b: Metastasis in multiple ipsilateral lymph nodes, none more than 6 cm in greatest dimension. N2c: Metastasis in bilateral or contralateral lymph nodes, none more than 6 cm in greatest dimension. N3: Metastasis in a lymph node more than 6 cm in greatest dimension. M1: Distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C0280361|Stage IV includes: IVA (T4a, N0, M0); (T4a, N1, M0); (T1, N2, M0); (T2, N2, M0); (T3, N2, M0); (T4a, N2, M0);. IVB (Any T, N3, M0); (T4b, Any N, M0); IVC (Any T, Any N, M1). T4a: (oral cavity) Tumor invades adjacent structures (e.g., through cortical bone, into deep [extrinsic] muscles of tongue, maxillary sinus, skin of face). T4b: Tumor invades masticator space, pterygoid plates, or skull base and/or encases internal carotid artery. N2: Metastasis in a single ipsilateral lymph node, more than 3 cm but not more than 6 cm in greatest dimension; or in multiple ipsilateral lymph nodes, none more than 6 cm in greatest dimension; or in bilateral or contralateral lymph nodes, none more than 6 cm in greatest dimension. N2a: Metastasis in a single ipsilateral lymph node more than 3 cm but not more than 6 cm in dimension. N2b: Metastasis in multiple ipsilateral lymph nodes, none more than 6 cm in greatest dimension. N2c: Metastasis in bilateral or contralateral lymph nodes, none more than 6 cm in greatest dimension. N3: Metastasis in a lymph node more than 6 cm in greatest dimension. M1: Distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C0280363|The reemergence of lip and oral cavity squamous cell carcinoma after a period of remission.|NCI|N|
C0280364|Reemergence of basal cell carcinoma of the lip after a period of remission.|NCI|N|
C0280365|Reemergence of verrucous carcinoma of the oral cavity after a period of remission.|NCI|N|
C0280366|The reemergence of mucoepidermoid carcinoma in the oral cavity after a period of remission.|NCI|N|
C0280367|The reemergence of adenoid cystic carcinoma in the oral cavity after a period of remission.|NCI|N|
C0280368|Stage I includes: T1, N0, M0. T1: Tumor 2 cm or less in greatest dimension. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C0280369|Stage I includes: T1, N0, M0. T1: Tumor 2 cm or less in greatest dimension. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C0280370|Stage II includes: T2, N0, M0. T2: Tumor more than 2 cm but not more than 4 cm in greatest dimension. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C0280372|Stage III includes: (T3, N0, M0); (T1, N1, M0); (T2, N1, M0); (T3, N1, M0). T1: Tumor 2 cm or less in greatest dimension. T2: Tumor more than 2 cm but not more than 4 cm in greatest dimension. T3: Tumor measuring more than 4 centimeters in greatest dimension or extension to lingual surface of epiglottis. N0: No regional lymph node metastasis. N1: Metastasis in a single ipsilateral lymph node, 3 cm or less in greatest dimension. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C0280373|Stage III includes: (T3, N0, M0); (T1, N1, M0); (T2, N1, M0); (T3, N1, M0). T1: Tumor 2 cm or less in greatest dimension. T2: Tumor more than 2 cm but not more than 4 cm in greatest dimension. T3: Tumor measuring more than 4 centimeters in greatest dimension or extension to lingual surface of epiglottis. N0: No regional lymph node metastasis. N1: Metastasis in a single ipsilateral lymph node, 3 cm or less in greatest dimension. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C0280374|A squamous cell carcinoma of the oropharynx which has spread from the original site of growth to another anatomic site.|NCI|N|
C0280375|Stage IV includes: IVA (T4a, N0, M0); (T4a, N1, M0); (T1, N2, M0); (T2, N2, M0); (T3, N2, M0); (T4a, N2, M0); IVB (T4b, Any N, M0); (Any T, N3, M0); IVC (Any T, Any N, M1). T4a: Tumor with moderately advanced local disease. Tumor invades the larynx, extrinsic muscle of tongue, medial pterygoid, hard palate, or mandible. Mucosal extension to lingual surface of epiglottis from primary tumors of the base of the tongue and vallecula does not constitute invasion of larynx. T1: Tumor 2 cm or less in greatest dimension. T2: Tumor more than 2 cm but not more than 4 cm in greatest dimension. T3: Tumor measuring more than 4 centimeters in greatest dimension or extension to lingual surface of epiglottis. T4b: Tumor with very advanced local disease. Tumor invades lateral pterygoid muscle, pterygoid plates, lateral nasopharynx, or skull base or encases carotid artery. N0: No regional lymph node metastasis. N1: Metastasis in a single ipsilateral lymph node, 3 cm or less in greatest dimension. N2: Tumor with metastasis in a single ipsilateral lymph node, more than 3 cm but not more than 6 cm in greatest dimension, or in multiple ipsilateral lymph nodes, none more than 6 cm in greatest dimension, or in bilateral or contralateral lymph nodes, none more than 6 cm in greatest dimension. N3: Tumor with metastasis in a lymph node more than 6 cm in greatest dimension. M0: No distant metastasis. M1: Distant metastasis. (AJCC 7th ed.)|NCI|N|
C0280376|Reemergence of squamous cell carcinoma of the oropharynx after a period of remission.|NCI|N|
C0280378|Stage I includes: T1, N0, M0. T1: Nasopharyngeal cancer with tumor confined to the nasopharynx, or tumor extending to oropharynx and/or nasal cavity without parapharyngeal extension. Parapharyngeal extension denotes posterolateral infiltration of tumor. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C0280379|Stage I includes: T1, N0, M0. T1: Nasopharyngeal cancer with tumor confined to the nasopharynx, or tumor extending to oropharynx and/or nasal cavity without parapharyngeal extension. Parapharyngeal extension denotes posterolateral infiltration of tumor. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C0280380|Stage II includes: (T1, N1, M0); (T2, N0, M0); (T2, N1, M0). T1: Nasopharyngeal cancer with tumor confined to the nasopharynx, or tumor extending to oropharynx and/or nasal cavity without parapharyngeal extension. Parapharyngeal extension denotes posterolateral infiltration of tumor. T2: Nasopharyngeal cancer with parapharyngeal extension. Parapharyngeal extension denotes posterolateral infiltration of tumor. N0: No regional lymph node metastasis. N1: Nasopharyngeal cancer with unilateral metastasis in cervical lymph node(s), 6 cm or less in greatest dimension, above the supraclavicular fossa, and/or unilateral or bilateral, retropharyngeal lymph nodes, 6 cm or less in greatest dimension. Midline nodes are considered ipsilateral nodes. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C0280381|Stage II includes: (T1, N1, M0); (T2, N0, M0); (T2, N1, M0). T1: Nasopharyngeal cancer with tumor confined to the nasopharynx, or tumor extending to oropharynx and/or nasal cavity without parapharyngeal extension. Parapharyngeal extension denotes posterolateral infiltration of tumor. T2: Nasopharyngeal cancer with parapharyngeal extension. Parapharyngeal extension denotes posterolateral infiltration of tumor. N0: No regional lymph node metastasis. N1: Nasopharyngeal cancer with unilateral metastasis in cervical lymph node(s), 6 cm or less in greatest dimension, above the supraclavicular fossa, and/or unilateral or bilateral, retropharyngeal lymph nodes, 6 cm or less in greatest dimension. Midline nodes are considered ipsilateral nodes. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C0280382|Stage III includes: (T1, N2, M0); (T2, N2, M0); (T3, N0, M0); (T3, N1, M0); (T3, N2, M0). T1: Nasopharyngeal cancer with tumor confined to the nasopharynx, or tumor extending to oropharynx and/or nasal cavity without parapharyngeal extension. Parapharyngeal extension denotes posterolateral infiltration of tumor. T2: Nasopharyngeal cancer with parapharyngeal extension. Parapharyngeal extension denotes posterolateral infiltration of tumor. T3: Nasopharyngeal cancer with tumor involving bony structures of skull base and/or paranasal sinuses. N0: No regional lymph node metastasis. N1: Nasopharyngeal cancer with unilateral metastasis in cervical lymph node(s), 6 cm or less in greatest dimension, above the supraclavicular fossa, and/or unilateral or bilateral, retropharyngeal lymph nodes, 6 cm or less in greatest dimension. Midline nodes are considered ipsilateral nodes. N2: Nasopharyngeal cancer with bilateral metastasis in cervical lymph node(s), 6 cm or less in greatest dimension, above the supraclavicular fossa. Midline nodes are considered ipsilateral nodes. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C0280383|Stage III includes: (T1, N2, M0); (T2, N2, M0); (T3, N0, M0); (T3, N1, M0); (T3, N2, M0). T1: Nasopharyngeal cancer with tumor confined to the nasopharynx, or tumor extending to oropharynx and/or nasal cavity without parapharyngeal extension. Parapharyngeal extension denotes posterolateral infiltration of tumor. T2: Nasopharyngeal cancer with parapharyngeal extension. Parapharyngeal extension denotes posterolateral infiltration of tumor. T3: Nasopharyngeal cancer with tumor involving bony structures of skull base and/or paranasal sinuses. N0: No regional lymph node metastasis. N1: Nasopharyngeal cancer with unilateral metastasis in cervical lymph node(s), 6 cm or less in greatest dimension, above the supraclavicular fossa, and/or unilateral or bilateral, retropharyngeal lymph nodes, 6 cm or less in greatest dimension. Midline nodes are considered ipsilateral nodes. N2: Nasopharyngeal cancer with bilateral metastasis in cervical lymph node(s), 6 cm or less in greatest dimension, above the supraclavicular fossa. Midline nodes are considered ipsilateral nodes. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C0280385|Stage IV includes: IVA: (T4, N0, M0); (T4, N1, M0); (T4, N2, M0); IVB (Any T, N3, M0); IVC (Any T, Any N, M1). T4: Nasopharyngeal cancer with intracranial extension and/or involvement of cranial nerves, hypopharynx, orbit, or with extension to the infratemporal fossa/masticator space. N0: No regional lymph node metastasis. N1: Nasopharyngeal cancer with unilateral metastasis in cervical lymph node(s), 6 cm or less in greatest dimension, above the supraclavicular fossa, and/or unilateral or bilateral, retropharyngeal lymph nodes, 6 cm or less in greatest dimension. Midline nodes are considered ipsilateral nodes. N2: Nasopharyngeal cancer with bilateral metastasis in cervical lymph node(s), 6 cm or less in greatest dimension, above the supraclavicular fossa. Midline nodes are considered ipsilateral nodes. N3: Nasopharyngeal cancer with metastasis in a lymph node (s) more than 6 cm in greatest dimension and/or to supraclavicular fossa. Supraclavicular zone or fossa is relevant to the staging of nasopharyngeal carcinoma and is the triangular region originally described by Ho. It is defined by three points: (1) the superior margin of the sternal end of the clavicle, (2) the superior margin of the lateral end of the clavicle, (3) the point where the neck meets the shoulder. This would include caudal portions of levels IV and VB. All cases with lymph nodes (whole or part) in the fossa are considered N3b. M0: No distant metastasis. M1: Distant metastasis. (AJCC 7th ed.)|NCI|N|
C0280386|The reemergence of squamous cell carcinoma of the nasopharynx after a period of remission.|NCI|N|
C0280387|The reemergence of undifferentiated carcinoma of the nasopharynx after a period of remission.|NCI|N|
C0280388|Stage I includes: T1, N0, M0. T1: Tumor limited to one subsite of hypopharynx and/or 2 cm or less in greatest dimension. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C0280389|Stage II includes: T2, N0, M0. T2: Tumor invades more than one subsite of the hypopharynx or an adjacent site, or measures more than 2 cm but not more than 4 cm in greatest diameter without fixation of hemilarynx. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C0280390|Stage III includes: (T3, N0, M0); (T1, N1, M0); (T2, N1, M0); (T3, N1, M0). T3: Tumor measuring more than 4 cm in greatest dimension or with fixation of hemilarynx or extension to esophagus. T1: Tumor limited to one subsite of hypopharynx and/or 2 cm or less in greatest dimension. T2: Tumor invades more than one subsite of the hypopharynx or an adjacent site, or measures more than 2 cm but not more than 4 cm in greatest diameter without fixation of hemilarynx. N0: No regional lymph node metastasis. N1: Metastasis in a single ipsilateral lymph node, 3 cm or less in greatest dimension. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C0280391|A squamous cell carcinoma of the hypopharynx that has spread from the original site of growth to another anatomic site.|NCI|N|
C0280392|Reemergence of squamous cell carcinoma of the hypopharynx after a period of remission.|NCI|N|
C0280399|A squamous cell carcinoma of the larynx that has spread from the original site of growth to another anatomic site.|NCI|N|
C0280400|Stage IV includes: IVA: (T4a, N0, M0); (T4a, N1, M0); (T1, N2, M0); (T2, N2, M0); (T3, N2, M0); (T4a, N2, M0); IVB: (T4b, Any N, M0); (Any T, N3, M0); IVC: (Any T, Any N, M1). T4a: Supraglottis: Moderately advanced local disease. Tumor invades through the thyroid cartilage and/or invades tissues beyond the larynx (e.g., trachea, soft tissues of neck including deep extrinsic muscle of the tongue, strap muscles, thyroid, or esophagus). Glottis: Moderately advanced local disease. Tumor invades through the outer cortex of the thyroid cartilage and/or invades tissues beyond the larynx (e.g., trachea, soft tissues of neck including deep extrinsic muscles of the tongue, strap muscles, thyroid, or esophagus). Subglottis: Moderately advanced local disease. Tumor invades cricoid or thyroid cartilage and/or invades tissues beyond the larynx (e.g., trachea, soft tissues of neck including deep extrinsic muscles of the tongue, strap muscles, thyroid, or esophagus). T4b: Supraglottis, Glottis, and Subglottis: Very advanced local disease. Tumor invades prevertebral space, encases carotid artery, or invades mediastinal structures. N0: No regional lymph node metastasis. N1: Metastasis in a single ipsilateral lymph node, 3cm or less in greatest dimension. N2: Metastasis in a single ipsilateral lymph node, more than 3 cm but not more than 6 cm in greatest dimension, or in multiple ipsilateral lymph nodes, none more than 6 cm in greatest dimension, or in bilateral or contralateral lymph nodes, none more than 6 cm in greatest dimension. N3: Metastasis in a lymph node, more than 6 cm in greatest dimension. M0: No distant metastasis. M1: Distant metastasis. (AJCC 7th ed.)|NCI|N|
C0280401|The reemergence of squamous cell carcinoma of the larynx after a period of remission.|NCI|N|
C0280402|The reemergence of verrucous carcinoma of the larynx after a period of remission.|NCI|N|
C0280415|Stage IV includes: IVA: (T4a, N0, M0); (T4a, N1, M0); (T1, N2, M0); (T2, N2, M0); (T3, N2, M0); (T4a, N2, M0); IVB: (T4b, Any N, M0); (Any T, N3, M0); IVC: (Any T, Any N, M1). T4a: Maxillary sinus: Moderately advanced local disease. Tumor invades anterior orbital contents, skin of cheek, pterygoid plates, infratemporal fossa, cribriform plate, sphenoid or frontal sinuses. Nasal cavity and ethmoid sinus: Moderately advanced local disease. Tumor invades any of the following: anterior orbital contents, skin of nose or cheek, minimal extension to anterior cranial fossa, pterygoid plates, sphenoid or frontal sinuses. T4b: Very advanced local disease. Tumor invades any of the following: orbital apex, dura, brain, middle cranial fossa, cranial nerves other than maxillary division of trigeminal nerve, nasopharynx, or clivus. N0: No regional lymph node metastasis. N1: Metastasis in a single ipsilateral lymph node, 3 cm or less in greatest dimension. N2: Metastasis in a single ipsilateral lymph node, more than 3 cm but not more than 6 cm in greatest dimension, or in multiple ipsilateral lymph nodes, none more than 6 cm in greatest dimension, or in bilateral or contralateral lymph nodes, none more than 6 cm in greatest dimension. N3: Metastasis in a lymph node, more than 6 cm in greatest dimension. M0: No distant metastasis. M1: Distant metastasis. (AJCC 7th ed.)|NCI|N|
C0280419|The reemergence of nasal cavity and paranasal sinus squamous cell carcinoma after a period of remission.|NCI|N|
C0280423|Ann Arbor Classification: Stage I: Involvement of a single lymph node region (I); or localized involvement of a single extralymphatic organ or site in the absence of any lymph node involvement (IE).|NCI|N|
C0280424|Ann Arbor Classification: Stage II: Involvement of two or more lymph node regions on the same side of the diaphragm (II); or localized involvement of a single extralymphatic organ or site in association with regional lymph node involvement with or without involvement of other lymph node regions on the same side of the diaphragm (IIE).|NCI|N|
C0280425|Ann Arbor Classification: Stage III: Involvement of lymph node regions on both sides of the diaphragm (III), which also may be accompanied by extralymphatic extension in association with adjacent lymph node involvement (IIIE) or by involvement of the spleen (IIIS) or both (IIIE,S).|NCI|N|
C0280426|Ann Arbor Classification: Stage IV: Diffuse or disseminated involvement of one or more extralymphatic organs, with or without associated lymph node involvement; or isolated extralymphatic organ involvement in the absence of adjacent regional lymph node involvement, but in conjunction with disease in distant site(s); or any involvement of the liver or bone marrow, lungs (other than by direct extension from another site), or cerebrospinal fluid.|NCI|N|
C0280427|The reemergence of adult T-cell leukemia/lymphoma after a period of remission|NCI|N|
C0280449|An acute myeloid leukemia arising from prior myelodysplastic syndrome, myeloproliferative neoplasm, or myelodysplastic/myeloproliferative neoplasm, or as a result of previous exposure to alkylating agents or topoisomerase II inhibitors.|NCI|N|
C0280451|A primary myelodysplastic syndrome not associated with prior radiation or chemotherapy treatment.|NCI|N|
C0280468|The reemergence of renal pelvis and ureter urothelial carcinoma after a period of remission.|NCI|N|
C0280470|An anal squamous cell carcinoma characterized by the presence of malignant cells with hyperchromatic nuclei and peripheral nuclear palisading.|NCI|N|
C0280474|A glioblastoma that occurs during childhood.|NCI|N|
C0280475|An oligodendroglioma that arises from the central nervous system and occurs during childhood.|NCI|N|
C0280478|Gestational trophoblastic tumor that is confined to the site in which it initially manifested.|NCI|N|
C0280479|Metastatic gestational trophoblastic tumor in which risk factors are absent.|NCI|N|
C0280481|Metastatic gestational trophoblastic tumor in which risk factors are present.|NCI|N|
C0280483|An astrocytoma occurring in adults that is characterized by the presence of high mitotic activity, cytologic atypia, and architectural distortion.|NCI|N|
C0280605|A supratentorial embryonal tumor, not otherwise specified that occurs in childhood.|NCI|N|
C0280623|A neoplasm that arises from the choroid plexus in the brain and occurs during childhood.|NCI|N|
C0280624|Stage I includes: T1, N0, M0. T1: Tumor limited to the uterus. N0: No regional lymph node metastasis. M0: No distant metastasis. This staging applies to leiomyosarcoma, endometrial stromal sarcoma, and adenosarcoma. (AJCC 7th ed.)|NCI|N|
C0280625|Stage II includes: T2, N0, M0. T2: Tumor extends beyond the uterus, within the pelvis. N0: No regional lymph node metastasis. M0: No distant metastasis. This staging applies to leiomyosarcoma, endometrial stromal sarcoma, and adenosarcoma. (AJCC 7th ed.)|NCI|N|
C0280626|Stage III includes: IIIA (T3a, N0, M0); IIIB (T3b, N0, M0); IIIC (T1-T3, N1, M0). T1: Tumor limited to the uterus. T2: Tumor extends beyond the uterus, within the pelvis. T3: Tumor infiltrates abdominal tissues. T3a: Tumor infiltrates abdominal tissues, one side. T3b: Tumor infiltrates abdominal tissues, more than one side. N0: No regional lymph node metastasis. N1: Regional lymph node metastasis. M0: No distant metastasis. This staging applies to leiomyosarcoma, endometrial stromal sarcoma, and adenosarcoma. (AJCC 7th ed.)|NCI|N|
C0280627|Stage IV includes: IVA (T4, Any N, M0); IVB (Any T, Any N, M1). T4: Tumor involves bladder or rectum. M0: No distant metastasis. M1: Distal metastasis (excluding adnexa, pelvic and abdominal tissues). This staging applies to leiomyosarcoma, endometrial stromal sarcoma, and adenosarcoma. (AJCC 7th ed.)|NCI|N|
C0280630|A usually aggressive malignant neoplasm arising from the uterine corpus and less often the cervix. It is characterized by the presence of two components: a malignant epithelial component and a sarcomatous component. In the uterine corpus the epithelial component is usually glandular whereas in the cervix is usually non-glandular. Carcinosarcoma of the cervix, although it is aggressive, it may have a better prognosis compared to the uterine corpus carcinosarcoma.|NCI|N|
C0280631|The presence of a leiomyosarcoma of the uterus.|HPO|N|
C0280634|An acute monocytic leukemia occurring in adults.|NCI|N|
C0280656|A meningioma that occurs during childhood.|NCI|N|
C0280725|A cholangiocarcinoma occurring in adults.|NCI|N|
C0280733|The reemergence of carcinoma from an unknown primary after a period of remission.|NCI|N|
C0280734|Malignant neoplasms that develop in HIV infected patients. The most common AIDS-related malignant neoplasms are Kaposi sarcoma, non-Hodgkin lymphoma, anal carcinoma, cervical carcinoma, and Hodgkin lymphoma.|NCI|N|
C0280744|A myelodysplastic syndrome for which a patient has received treatment in the past.|NCI|N|
C0280745|A myelodysplastic syndrome resulting from chemotherapy or radiation therapy treatment for other malignant disorders.|NCI|N|
C0280746|A rare, aggressive malignant mesenchymal neoplasm that arises from the ovary. The prognosis is poor.|NCI|N|
C0280781|A pilocytic astrocytoma occurring in adults.|NCI|N|
C0280783|A pilocytic astrocytoma that occurs during adolescence.|NCI|N|
C0280785|A rare low-grade astrocytoma characterized by a high degree of cellular differentiation, slow growth, and diffuse infiltration of adjacent brain structures, and corresponding to WHO grade II. The tumor typically affects young adults and has an intrinsic tendency for progression to high-grade glioma. Histological variants are fibrillary, gemistocytic, and protoplasmic astrocytoma. Patients most commonly present with seizures, but also with other neurological or neuropsychological abnormalities, depending on the location.|ORDO|N|
C0280787|An anaplastic ependymoma occurring in adults.|NCI|N|
C0280788|A rare, malignant type of ependymoma that most often arises in the supratentorial region of the brain of children and young adults and that manifests with variable symptoms including headaches, nausea, vision impairment, memory loss and difficulty walking.|ORDO|N|
C0280791|A tumor of mixed cell type with astrocytic components as well as ependymoma components.|NCI|N|
C0280792|A mixed glioma characterized by the presence of astrocytic, ependymal, and oligodendroglial neoplastic components.|NCI|N|
C0280793|A WHO grade 2 tumor composed of a conspicuous mixture of two distinct neoplastic cell types morphologically resembling the tumor cells in oligodendroglioma and diffuse astrocytoma. (WHO)|NCI|N|
C0280794|A pineal parenchymal cell neoplasm (pineocytoma or pineoblastoma) occurring in adults.|NCI|N|
C0280795|A astrocytoma that involves the pineal body.|MONDO|N|
C0280796|A germ cell tumor of the central nervous system occurring in adults.|NCI|N|
C0280801|A malignant meningioma with aggressive clinical course. It recurs in approximately 50-78% of the cases. This category includes the anaplastic (malignant) meningioma, papillary meningioma, and rhabdoid meningioma.|NCI|N|
C0280803|A form of extranodal, high-grade non-Hodgkin B-cell neoplasm, usually large cell or immunoblastic type that originates in the brain, leptomeninges, spinal cord, or eyes and typically remains confined to the CNS.|HPO|N|
C0280822|Neuroblastoma that is confined to a specific site and is not amenable to surgical removal.|NCI|N|
C0280856|A cancer that originates in the squamous cells that line the surface of the vulva.|HPO|N|
C0280950|A disorder either associated with an increased risk for malignant transformation (e.g., intraepithelial neoplasia, leukoplakia, dysplastic nevus, myelodysplastic syndrome) or that develops as a result of the presence of an existing malignant neoplasm (e.g., paraneoplastic syndrome).|NCI|N|
C0280956|A situation describing a high degree of difficultly as it relates to intravenous and/or intra-arterial access of an individual''s vascular system.|NCI|N|
C0280962|A condition in which the production of red blood cells, white blood cells, and/or platelets by bone marrow stem cells is inhibited, usually as a side effect of treatment with various anti-cancer agents, radiation, or tumor development within the bone marrow.|NCI|N|
C0281169|Any pulmonary disorder occurring as a consequence of injury to the lungs.|NCI|N|
C0281241|A lymphoma (non-Hodgkin or Hodgkin) arising from the central nervous system and occurring in HIV-positive patients.|NCI|N|
C0281242|A diffuse large cell lymphoma developing in an HIV positive patient.|NCI|N|
C0281266|An indication that an individual has been previously treated with endocrine/hormonal therapy following surgery.|NCI|N|
C0281267|Carcinoma that affects both breasts in a simultaneous or non-simultaneous manner.|NCI|N|
C0281293|Hodgkin lymphoma secondary to AIDS. An increased incidence of Hodgkin lymphomas has been observed in HIV positive patients. Most cases are morphologically classified as lymphocyte depleted or mixed cellularity Hodgkin lymphomas.|NCI|N|
C0281328|A subependymoma that occurs during adulthood.|NCI|N|
C0281329|An infiltrating astrocytic tumor of the brain occurring in adults.|NCI|N|
C0281330|An embryonal tumor with multilayered rosettes, C19MC-altered, occurring in adults.|NCI|N|
C0281331|A pineocytoma occurring in adults.|NCI|N|
C0281332|A pineoblastoma occurring in adults.|NCI|N|
C0281334|A papillary meningioma occurring in adults.|NCI|N|
C0281361|The presence of an adenocarcinoma of the pancreas.|HPO|N|
C0281393|A non-Hodgkin lymphoma occurring in HIV-positive patients. It is composed of a mixture of lymphocytes of various sizes.|NCI|N|
C0281394|A non-Hodgkin lymphoma occurring in HIV-positive patients. It is composed of small cleaved lymphocytes.|NCI|N|
C0281464|A lymphoblastic lymphoma occurring in HIV-positive patients.|NCI|N|
C0281479|A plasma cell neoplasm that secretes an abnormal immunoglobulin, which deposits in various tissues and forms a beta-pleated sheet structure that binds Congo red dye with characteristic birefringence. The sites of involvement include heart, liver, kidney, gut, tongue, nerves, and bone. (WHO, 2001)|NCI|N|
C0281508|An aggressive soft tissue cancer that typically arises in serous lined surfaces of the abdominal or pelvic peritoneum, and spreads to the omentum, lymph nodes and hematogenously disseminates especially to the liver. Extraserous primary location has been reported in exceptional cases.|ORDO|N|
C0281594|Hodgkin lymphoma that occurs during pregnancy.|NCI|N|
C0281604|An immune response that involves a reaction by immune cells that are present in transplanted tissue, such as bone marrow or peripheral blood, to a recipient''s tumor cells. The introduction or transplantation of immune-sensitive moieties to a host are being evaluated in several clinical trials as a primary therapy for patients with malignancies.|NCI|N|
C0281641|An acute myeloid leukemia with minimal differentiation occurring in adults.|NCI|N|
C0281642|An acute myeloid leukemia with minimal differentiation occurring in children.|NCI|N|
C0281658|A non-Hodgkin lymphoma that arises within the eyeball.|NCI|N|
C0281700|Ann Arbor Classification: Stage I: Involvement of a single lymph node region (I); or localized involvement of a single extralymphatic organ or site in the absence of any lymph node involvement (IE).|NCI|N|
C0281701|Stage I: Involvement of a single lymph node region (I) or localized involvement of a single extralymphatic organ or site (IE). (from PDQ)|NCI|N|
C0281702|Ann Arbor Classification: Stage II: Involvement of two or more lymph node regions on the same side of the diaphragm (II); or localized involvement of a single extralymphatic organ or site in association with regional lymph node involvement with or without involvement of other lymph node regions on the same side of the diaphragm (IIE).|NCI|N|
C0281703|Stage II: Involvement of two or more lymph node regions on the same side of the diaphragm (II) or localized involvement of a single associated extralymphatic organ or site and its regional lymph nodes with or without other lymph node regions on the same side of the diaphragm (IIE). Note: The number of lymph node regions involved may be indicated by a subscript (e.g., II3). (from PDQ)|NCI|N|
C0281704|Ann Arbor Classification: Stage III: Involvement of lymph node regions on both sides of the diaphragm (III), which also may be accompanied by extralymphatic extension in association with adjacent lymph node involvement (IIIE) or by involvement of the spleen (IIIS) or both (IIIE,S).|NCI|N|
C0281705|Stage III: Involvement of lymph node regions on both sides of the diaphragm (III) that may also be accompanied by localized involvement of an extralymphatic organ or site (IIIE), by involvement of the spleen (IIIS), or both (IIIS+E). (from PDQ)|NCI|N|
C0281706|Ann Arbor Classification: Stage IV: Diffuse or disseminated involvement of one or more extralymphatic organs, with or without associated lymph node involvement; or isolated extralymphatic organ involvement in the absence of adjacent regional lymph node involvement, but in conjunction with disease in distant site(s); or any involvement of the liver or bone marrow, lungs (other than by direct extension from another site), or cerebrospinal fluid.|NCI|N|
C0281707|Stage IV: Disseminated (multifocal) involvement of one or more extralymphatic sites with or without associated lymph node involvement or isolated extralymphatic organ involvement with distant (nonregional) nodal involvement. (from PDQ)|NCI|N|
C0281708|The reemergence of Burkitt lymphoma in childhood after a period of remission.|NCI|N|
C0281709|The reemergence of childhood large cell lymphoma after a period of remission.|NCI|N|
C0281710|A large cell lymphoma occurring in childhood.|NCI|N|
C0281779|A human papillomavirus-related neoplasm arising from the anus. Morphologically, it is characterized by an exophytic papillary proliferation of squamous cells and acanthosis.|NCI|N|
C0281784|A grade I, slowly growing meningioma. Only a minority of tumors recur following complete resection.|NCI|N|
C0281788|Thickening of the heart walls in both ventricles.|HPO|N|
C0281796|Metaplastic changes in the cervical glandular or squamous epithelium.|NCI|N|
C0281838|A benign intraluminal polypoid neoplasm of the esophagus. It includes the squamous papilloma and the giant fibrovascular polyp.|NCI|N|
C0281842|An abnormality of the fallopian tube.|HPO|N|
C0281851|A partial or complete breakage of the tarsal bone.|HPO|N|
C0281856|Sensation of unpleasant feeling indicating potential or actual damage to some body structure felt all over, or throughout the body.|ICF-CY|N|
C0281857|An abnormal communication between the genital tract and another organ or anatomic structure.|NCI|N|
C0281869|A finding of Hodgkin lymphoma that is not growing and responds to treatment.|NCI|N|
C0281890|A membrane-like structure that extends across the laryngeal lumen close to the level of the vocal cords.|HPO|N|
C0281914|Congenital or acquired deformity of the musculoskeletal system.|NCI|N|
C0281926|A partial or complete breakage of the calcaneus.|HPO|N|
C0281986|Patients who routinely have greater than 20 leukocytes per microliter, but have abacterial urine, are said to have sterile pyuria.|HPO|N|
C0282102|The findings in X-linked chondrodysplasia punctata 2 (CDPX2) range from fetal demise with multiple malformations and severe growth retardation to much milder manifestations, including females with no recognizable physical abnormalities. At least 95% of live-born individuals with CDPX2 are female. Characteristic features include growth deficiency; distinctive craniofacial appearance; chondrodysplasia punctata (stippling of the epiphyses of the long bones, vertebrae, trachea, and distal ends of the ribs); often asymmetric rhizomelic shortening of limbs; scoliosis; linear or blotchy scaling ichthyosis in the newborn; later appearance of linear or whorled atrophic patches involving hair follicles (follicular atrophoderma); coarse hair with scarring alopecia; and cataracts.|GeneReviews|N|
C0282126|A term used for any state of depression that is not psychotic.|NCI|N|
C0282160|Aplasia cutis congenita (ACC) is defined as congenital localized absence of skin. The skin appears as a thin, transparent membrane through which the underlying structures are visible. The location is usually on the scalp (Evers et al., 1995). Approximately 20 to 30% of cases have underlying osseous involvement (Elliott and Teebi, 1997). Autosomal dominant inheritance is most common, but recessive inheritance has also been reported.
Cutaneous aplasia of the scalp vertex also occurs in Johanson-Blizzard syndrome (243800) and Adams-Oliver syndrome (AOS; 100300). A defect in the scalp is sometimes found in cases of trisomy 13 and in about 15% of cases of deletion of the short arm of chromosome 4, the Wolf-Hirschhorn syndrome (WHS; 194190) (Hirschhorn et al., 1965; Fryns et al., 1973).
Evers et al. (1995) provided a list of disorders associated with aplasia cutis congenita, classified according to etiology. They also tabulated points of particular significance in history taking and examination of patients with ACC.|OMIM|N|
C0282192|Bolivian hemorrhagic fever (BHF), caused by the Machupo virus (MACV), is a severe acute viral hemorrhagic fever characterized by fever, myalgia, and arthralgia followed by hemorrhagic and neurological manifestations.|ORDO|N|
C0282193|Accumulation of iron in the tissues. It may be a manifestation of an inherited disorder (e.g., hemochromatosis) or acquired (in patients with repeated blood transfusions). Symptoms include hepatomegaly, arthritis, diabetes mellitus, and bronzed skin. If untreated it has a progressive course and may lead to death.|NCI|N|
C0282207|Cronkhite-Canada syndrome is characterized by gastrointestinal hamartomatous polyposis, alopecia, onychodystrophy, skin hyperpigmentation, and diarrhea. It is associated with high morbidity (summary by Sweetser et al., 2012).|OMIM|N|
C0282209|The shifting in position or location of an INTRAUTERINE DEVICE from its original placement.|MSH|N|
C0282220|An outdated term for Tay-Sachs disease.|MSH|N|
C0282309|Chronic actinic dermatitis (CAD) is an immunologically mediated photodermatosis usually observed in temperate climates and that typically develops in middle-aged to elderly males. CAD is characterized by eczematous and often lichenified pruritic patches and confluent plaques located predominantly on sun-exposed areas with notable sparing of eyelids, skin folds, and postauricular skin. It is often accompanied by multiple contact allergies and usually occurs in a background of either atopic, contact allergic, or seborrheic dermatitis, although it can occur <i>de novo</i>. Resolution of photosensitivity is reported in up to 50% of individuals after 15 years or more, with contact allergies persisting.|ORDO|N|
C0282312|A plague in which the bacteria have infected the lymphatic system.|MONDO|N|
C0282313|cellular state in which there is evidence of intracellular changes which could lead to a neoplastic condition.|CSP|N|
C0282488|A rare non-infectious, chronic and most often progressive disease of the urinary bladder. It is characterized by varying combinations and extent of pain, urinary frequency (pollakisuria), nocturia and urgency. Interstitial cystitis (IC) has a broad intersection with Bladder Pain Syndrome (BPS) and Overactive Bladder (OAB).|ORDO|N|
C0282492|Sneddon syndrome is a noninflammatory arteriopathy characterized by onset of livedo reticularis in the second decade and onset of cerebrovascular disease in early adulthood (summary by Bras et al., 2014).
Livedo reticularis occurs also with polyarteritis nodosa, systemic lupus erythematosus, and central thrombocythemia, any one of which may be accompanied by cerebrovascular accidents (Bruyn et al., 1987).|OMIM|N|
C0282504|A polysymptomatic condition believed by clinical ecologists to result from immune dysregulation induced by common foods, allergens, and chemicals, resulting in various physical and mental disorders. The medical community has remained largely skeptical of the existence of this ""disease"", given the plethora of symptoms attributed to environmental illness, the lack of reproducible laboratory abnormalities, and the use of unproven therapies to treat the condition. (From Segen, Dictionary of Modern Medicine, 1992)|MSH|N|
C0282512|GRIN2A-related speech disorders and epilepsy are characterized by speech disorders in all affected individuals and a range of epilepsy syndromes present in about 90%. Severe speech disorders observed can include dysarthria and speech dyspraxia, and both receptive and expressive language delay/regression; more mildly affected individuals may display subtly impaired intelligibility of conversational speech. Epilepsy features include seizure onset usually between ages three and six years, focal epilepsy with language and/or global developmental regression, and electroencephalogram (EEG) showing continuous spike-and-wave discharges in sleep or very active centrotemporal discharges. Seizure types include seizures associated with aura of perioral paresthesia, focal or focal motor seizures (often evolving to generalized tonic-clonic), and atypical absence seizures. Epilepsy syndromes can include: Landau-Kleffner syndrome (LKS), epileptic encephalopathy with continuous spike-and-wave during sleep (ECSWS), childhood epilepsy with centrotemporal spikes (CECTS), atypical childhood epilepsy with centrotemporal spikes (ACECTS), autosomal dominant rolandic epilepsy with speech dyspraxia (ADRESD), and infantile-onset epileptic encephalopathy.|GeneReviews|N|
C0282513|Primary progressive aphasia (PPA) is a neurodegenerative disorder, characterized by a primary dissolution of language, with relative sparing of other mental faculties for at least the first 2 years of illness. PPA is recognized as the language variant in the frontotemporal dementia (FTD; see this term) spectrum of disorders. PPA can be classified into 3 subtypes based on specific speech and language features: semantic dementia (SD), progressive non-fluent aphasia (PNFA) and logopenic progressive aphasia (lv-PPA) (see these terms).|ORDO|N|
C0282517|Energy that is generated by the transfer of protons or electrons across an energy-transducing membrane and that can be used for chemical, osmotic, or mechanical work. Proton-motive force can be generated by a variety of phenomena including the operation of an electron transport chain, illumination of a PURPLE MEMBRANE, and the hydrolysis of ATP by a proton ATPase. (From Singleton & Sainsbury, Dictionary of Microbiology and Molecular Biology, 2d ed, p171)|MSH|N|
C0282525|A rare metabolic disorder that affects neonates. It is characterized by damage of the white matter in the brain and degeneration of the adrenal glands. It manifests with hyperactivity, paralysis, muscular weakness, crossed eyes, hearing loss, seizures, and coma.|NCI|N|
C0282526|A rare, autosomal recessive inherited metabolic disorder characterized by high levels of pipecolic acid in the blood, leading to neuropathy and hepatomegaly.|NCI|N|
C0282527|Zellweger spectrum disorder (ZSD) is a phenotypic continuum ranging from severe to mild. While individual phenotypes (e.g., Zellweger syndrome [ZS], neonatal adrenoleukodystrophy [NALD], and infantile Refsum disease [IRD]) were described in the past before the biochemical and molecular bases of this spectrum were fully determined, the term "ZSD" is now used to refer to all individuals with a defect in one of the ZSD-PEX genes regardless of phenotype. Individuals with ZSD usually come to clinical attention in the newborn period or later in childhood. Affected newborns are hypotonic and feed poorly. They have distinctive facies, congenital malformations (neuronal migration defects associated with neonatal-onset seizures, renal cysts, and bony stippling [chondrodysplasia punctata] of the patella[e] and the long bones), and liver disease that can be severe. Infants with severe ZSD are significantly impaired and typically die during the first year of life, usually having made no developmental progress. Individuals with intermediate/milder ZSD do not have congenital malformations, but rather progressive peroxisome dysfunction variably manifest as sensory loss (secondary to retinal dystrophy and sensorineural hearing loss), neurologic involvement (ataxia, polyneuropathy, and leukodystrophy), liver dysfunction, adrenal insufficiency, and renal oxalate stones. While hypotonia and developmental delays are typical, intellect can be normal. Some have osteopenia; almost all have ameleogenesis imperfecta in the secondary teeth.|GeneReviews|N|
C0282528|A group of congenital disorders of lipid metabolism, caused by loss of the normal peroxisomes. Signs and symptoms include developmental delays, mental retardation, facial abnormalities, hepatomegaly, and hypotonia.|NCI|N|
C0282529|A rare, primary bone dysplasia characterized by rhizomelic limb shortening, punctate calcifications in cartilage with epiphyseal and metaphyseal abnormalities (chondrodysplasia punctata) and coronal cleft vertebrae associated with profound postnatal growth deficiency, early-onset cataracts, severe intellectual disability and seizures.|ORDO|N|
C0282548|A disorder involving the aberrant infiltration and aggregation of leukocytes into the vasculature of the body. Leukostasis is typically detected in the brain and lungs of persons with leukemia. It requires substantial ablative modalities to both reduce the number of cells present and to ensure dispersion of the aggregates.|NCI|N|
C0282550|Unexplained symptoms reported by veterans of the Persian Gulf War with Iraq in 1991. The symptoms reported include fatigue, skin rash, muscle and joint pain, headaches, loss of memory, shortness of breath, gastrointestinal and respiratory symptoms, and extreme sensitivity to commonly occurring chemicals. (Nature 1994 May 5;369(6475):8)|MONDO|N|
C0282551|The measure of a BLOOD VESSEL''s ability to increase the volume of BLOOD it holds without a large increase in BLOOD PRESSURE. The vascular capacitance is equal to the change in volume divided by the change in pressure.|MSH|N|
C0282577|A fast growing group of inborn errors of metabolism characterized by defective activity of enzymes that participate in glycosylation (modification of proteins and other macromolecules by adding and processing of oligosaccharide side chains). This group is comprised of phenotypically diverse disorders affecting multiple systems including the central nervous system, muscle function, immunity, endocrine system, and coagulation. The numerous entities in this group are subdivided, based on the synthetic pathway affected, into disorder of protein N-glycosylation, disorder of protein O-glycosylation, disorder of multiple glycosylation, and disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation.|ORDO|N|
C0282606|A benign or malignant mesenchymal neoplasm arising from smooth, skeletal, or cardiac muscle.|NCI|N|
C0282607|A benign or malignant neoplasm (tumor) originating in the vascular system.|HPO|N|
C0282609|Neoplasms that affect the bone marrow. Such neoplasms may arise in the bone marrow (e.g. myeloid leukemias) or may involve the bone marrow as secondary, metastatic tumors (e.g. metastatic carcinomas to the bone marrow).|NCI|N|
C0282612|A neoplastic proliferation of the epithelial cells that line the acini and the ducts of the prostate gland. The neoplastic epithelial cells are confined within the acini and the ducts and they do not invade the surrounding prostatic stroma. Morphologically, it is classified as low or high grade.|NCI|N|
C0282616|A syndrome characterized by chronic, well-established diarrhea (greater than one month in duration) without an identified infectious cause after thorough evaluation, in an hiv-positive individual. It is thought to be due to direct or indirect effects of hiv on the enteric mucosa. hiv enteropathy is a diagnosis of exclusion and can be made only after other forms of diarrheal illness have been ruled out. (Harrison's Principles of Internal Medicine, 13th ed, pp1607-8; Haubrich et al., Bockus Gastroenterology, 5th ed, p1155)|MONDO|N|
C0282632|A phenomenon that occurs when antibodies present in the body from a primary infection bind to an infecting viral particle during a subsequent infection with a different serotype. The antibodies from the primary infection cannot neutralize the virus. Instead, the Ab-virus complexes attach to Fc receptors on circulating monocytes. The antibodies then facilitate more efficient viral infection of monocytes. The outcome is an increase in the overall replication of the virus and a higher risk of disease that is more severe than the initial infection.|NCI|N|
C0282666|Birth weight less than 1500 grams.|NCI|N|
C0282667|An infant whose weight at birth is less than 1500 grams (3.3 lbs), regardless of gestational age.|MSH|N|
C0282677|Infections with bacteria of the genus BURKHOLDERIA.|MSH|N|
C0282683|The ability of tumors to evade destruction by the IMMUNE SYSTEM. Theories concerning possible mechanisms by which this takes place involve both cellular immunity (IMMUNITY, CELLULAR) and humoral immunity (ANTIBODY FORMATION), and also costimulatory pathways related to CD28 ANTIGENS and B7-1 ANTIGEN.|MSH|N|
C0282687|Ebola hemorrhagic fever (EHF), caused by Ebola virus, is a severe viral hemorrhagic disease characterized by initial fever and malaise followed by gastrointestinal symptoms, bleeding, shock, and multi-organ system failure.|ORDO|N|
C0300934|A infectious disease involving the Naegleria fowleri.|MONDO|N|
C0300948|Caudal regression syndrome is a disorder that impacts the development of the lower (caudal) part of the spine. The condition can affect many parts of the lower body, including the lower back and limbs, the genitourinary tract, and the gastrointestinal tract.\n\nIn people with this disorder, the bones of the lower spine (vertebrae) are misshapen or missing. The end of the spinal cord, the bundle of nerves and cells protected by the vertebrae, may also be malformed or missing. Sometimes, the spinal cord is abnormally connected (tethered) to nearby tissues. People with caudal regression syndrome can also have an abnormal curvature of the spine (lordosis or kyphosis). The spinal abnormalities may affect the size and shape of the chest, which very rarely leads to breathing problems.\n\nIndividuals with caudal regression syndrome may have small hip bones. The buttocks tend to be flat and dimpled. The bones of the legs are typically underdeveloped, and the joints in the lower limbs may be unusually stiff and difficult to move. In some affected individuals, the legs are bent with the knees pointing out to the side and the feet tucked underneath the hips (sometimes called a frog leg-like position). These individuals may have webbed skin behind their knees. In other affected individuals, the knees may not bend, and the legs remain in a straight position. Their feet may be inward- and upward-turning (clubfeet) or outward- and upward-turning (calcaneovalgus). Some people with caudal regression syndrome have reduced or excessive sensation in their lower limbs. Sensitivity differs from person to person and from one area of the limb to another.\n\nMobility in people with caudal regression syndrome is varied. Some individuals with the condition walk independently, and others require mobility aids, such as braces, crutches, walkers, or wheelchairs.\n\nAbnormalities in the genitourinary tract in people with caudal regression syndrome are diverse. Urinary tract problems can result from abnormalities in the lowest part of the spinal cord, which contains the nerves that control bladder function. Damage to these nerves can cause a condition called neurogenic bladder, which makes it difficult to control the flow of urine. In addition, the kidneys may be malformed in people with caudal regression syndrome; defects include a missing kidney (unilateral renal agenesis), kidneys that are fused together (horseshoe kidney), or duplication of the tubes that carry urine from each kidney to the bladder (ureteral duplication). These kidney abnormalities and neurogenic bladder can lead to frequent urinary tract infections and the backflow (reflux) of urine into the kidneys, which damage the kidneys and can cause progressive kidney failure.\n\nGenital abnormalities in people with caudal regression syndrome can include the urethra opening on the underside of the penis (hypospadias) or undescended testes (cryptorchidism). Some affected people may have an abnormal connection between the rectum and vagina (rectovaginal fistula). In severe cases, people with this condition may have underdeveloped genitalia (genital agenesis).\n\nPeople with caudal regression syndrome may have abnormal twisting (malrotation) of the large intestine, an obstruction of the anal opening (imperforate anus), soft out-pouchings in the lower abdomen (inguinal hernias), or other malformations of the gastrointestinal tract. Affected individuals are often constipated and may have difficulty with bowel control.\n\n \n\nThe upper part of the body can also be affected. Some people with caudal regression syndrome have a heart condition or hearing problems.|MedlinePlus Genetics|N|
C0301624|movement of materials, usually across cell membranes, by processes not requiring metabolic energy expenditure.|CSP|N|
C0301918|A hypersensitivity reaction resulting from the deposition of antigen-antibody immune complexes in tissues, which trigger activation of the complement system.|NCI|N|
C0301928|A rare autoimmune disease with skin involvement characterized by recurrent episodes with isolated or multiple painful edematous inflammatory skin lesions progressing to ecchymoses within 24 hours, due to autosensitization to a stromal component of the patient's own erythrocytes. The development of the lesions is usually preceded by emotional or physical stress, followed by a prodromal stage with fatigue or malaise. Lower limbs and trunk are the most frequently involved sites. Accompanying features may include fever, arthralgia, myalgia, headache, gastrointestinal problems, or hematuria and epistaxis, among others. The disease occurs predominantly in women.|ORDO|N|
C0302133|Irregularly shaped, patchy discolorations in the skin.|NCI|N|
C0302142|An anatomic abnormality that is either present at birth or appears later in life.|NCI|N|
C0302148|An aggregation of blood factors, primarily platelets and fibrin with entrapment of cellular elements, frequently causing vascular obstruction at the point of its formation.|NCI|N|
C0302164|A type of xanthoma characterized by a nodular form. Tuberous xanthomas are firm subcutaneous nodules,whereby the overlying skin can have red or red-yellow color changes.|HPO|N|
C0302173|Interruption of the procecss of diffferentiation of hematopoietic cells in the bone marrow, manifested by an increased proportion of immature cells in the bone marrow.|HPO|N|
C0302182|An adenocarcinoma characterized by the presence of a trabecular glandular architectural pattern.|NCI|N|
C0302254|A type of cataract that is not apparent at birth but that arises in childhood or adolescence.|HPO|N|
C0302280|Adrenogenital syndrome is also known as congenital adrenal hyperplasia, which results from disorders of steroid hormone production in the adrenal glands leading to a deficiency of cortisol. The pituitary gland reacts by increased secretion of corticotropin, which in turn causes the adrenal glands to overproduce certain intermediary hormones which have testosterone-like effects.|HPO|N|
C0302302|A comedo in which the top of the pore is not stretched open and thus does not expose the clogged portion (which would appear black), hence the name whitehead.|HPO|N|
C0302313|A radiologic finding indicating the presence of bone destruction that results from the spread of cancer to the bone(s).|NCI|N|
C0302314|A non-neoplastic disorder characterized by a localized collection of histiocytes containing lipid. Xanthomas usually occur in the skin and subcutaneous tissues, but occasionally they may involve the deep soft tissues. -- 2003|NCI|N|
C0302319|Linear porokeratosis is a rare skin condition characterized by streaks of reddish-brown patches surrounded by a ridge-like border.The patches usually develop in infants or young children, but they sometimes develop in adults.|MONDO|N|
C0302327|A rare sarcoma arising from the meninges.|NCI|N|
C0302329|A B-cell non-Hodgkin lymphoma composed of large noncleaved cells. This is a subtype of diffuse large B-cell non-Hodgkin lymphoma.|NCI|N|
C0302362|A brucellosis that involves an infection caused by Brucella melitensis [NCBITaxon:29459] in cattle, goats, sheep and humans. The disease has symptom fever, has symptom malaise, has symptom anorexia, has symptom limb pain and has symptom back pain.|MONDO|N|
C0302363|A bacterial infection caused by Brucella abortus that spreads from cattle to humans. Brucella abortus can cause of range of signs and symptoms including fever, chills, sweats, weight loss, malaise, headaches, myalgia, and arthralgia.|MONDO|N|
C0302465|A dissecting aneurysm in the portion of the descending aortic wall that is within the abdomen.|NCI|N|
C0302486|Erythrophagocytosis; phagocytosis of erythrocytes.|NCI|N|
C0302497|Bleeding in the orbital cavity that results in compression of orbital structures, resulting in ischemia of the optic nerve, and possible loss of vision.|NCI|N|
C0302507|A viral infection caused by a parainfluenza virus, typically resulting in infections of the lower respiratory tract.|NCI|N|
C0302535|A tooth from which the dental pulp has been removed or is necrotic. (Boucher, Clinical Dental Terminology, 4th ed)|MSH|N|
C0302592|A carcinoma arising from either the exocervical squamous epithelium or the endocervical glandular epithelium. The major histologic types of cervical carcinoma are squamous cell carcinoma and adenocarcinoma.|NCI|N|
C0302604|An ICD encounter due to low income.|NCI|N|
C0302809|Acute hepatitis complicated by acute liver failure with hepatic encephalopathy occurring less than 8 weeks after the onset of jaundice.|HPO|N|
C0302820|Processes concerned with the synthesis, breakdown, and oxidation of carbohydrates in the tissues.|NCI|N|
C0302826|A measurement of collective behavior and attitudes that exist towards a specific person-a measurement of the social environment or social relationships of an individual.|MSH|N|
C0302845|Larger than normal size of erythrocytes.|HPO|N|
C0302859|DICER1 tumor predisposition (DICER1) is characterized by an increased risk for pleuropulmonary blastoma (PPB), pulmonary cysts, thyroid gland neoplasia (multinodular goiter, adenomas, and/or thyroid cancer), ovarian tumors (Sertoli-Leydig cell tumor, gynandroblastoma, and sarcoma), and cystic nephroma. Less commonly observed tumors include ciliary body medulloepithelioma, nasal chondromesenchymal hamartoma, embryonal rhabdomyosarcoma, pituitary blastoma, pineoblastoma, central nervous system (CNS) sarcoma, other CNS tumors, and presacral malignant teratoid tumor. The majority of tumors occur in individuals younger than age 40 years. PPB typically presents in infants and children younger than age six years. Ovarian sex cord-stromal tumors are most often diagnosed before age 40 years. Cystic nephroma generally presents in young children but has also been reported in adolescents. Additional clinical features that may be seen include macrocephaly, ocular abnormalities, structural anomalies of the kidney and collecting system, and dental anomalies (bulbous crowns).|GeneReviews|N|
C0302889|Localization of the testis in an anatomic location other than the scrotum.|HPO|N|
C0302892|A rare, genetic or acquired, cerebral malformation characterized by an intracerebral fluid-filled cyst or cavity with or without communication between the ventricle and subarachnoid space. Clinical manifestations depend on location and severity and may include hemiparesis, seizures, intellectual disability, and dystonia.|ORPHANET|N|
C0311164|The dietary practice of completely avoiding meat or fish products in the DIET, consuming VEGETABLES, CEREALS, and NUTS. Some vegetarian diets called lacto-ovo also include milk and egg products.|MSH|N|
C0311220|Lymphocytoma cutis, or Spiegler-Fendt sarcoid, is classed as one of the pseudolymphomas, referring to inflammatory disorders in which the accumulation of lymphocytes on the skin resemble, clinically and histopathologically, cutaneous lymphomas. Careful clinical evaluation, histopathological and immunohistochemical exams may be needed to make the correct diagnosis.|HPO|N|
C0311223|A painful inflammatory process leads to a mechanical block in active and passive range of motion (ROM) of the shoulder. Adhesive capsulitis of the shoulder is characterized by functional loss of passive and active shoulder motion. This inflammatory process results in fibroblastic proliferation and extensive scar tissue formation. Fibroblastic proliferation, a late phase of the inflammatory process involved in tissue repair, leads to thickening, fibrosis, and adhesion of the capsule to itself and the humerus.|MONDO|N|
C0311227|Aluminosis is characterized as diffuse interstitial fibrosis which is mainly located in the upper and middle lobes of the lung. In advanced stages it is characterized by subpleural bullous emphysema with an increased risk of spontaneous pneumothorax.|MONDO|N|
C0311242|An odontogenic cyst found in the alveolar mucosa. (WHO 2017)|NCI|N|
C0311249|Cryptophthalmos is a condition of total absence of eyelids and the skin of forehead is continuous with that of cheek, in which the eyeball is completely concealed by the skin, which is stretched over the orbital cavity.|HPO|N|
C0311273|Acute infection of the bile ducts caused by bacteria ascending from the small intestine.|NCI|N|
C0311277|Excessive fat around the stomach and abdomen.|HPO|N|
C0311284|A rare non-Langerhans cell histiocytosis characterized by the association of specific nodular skin lesions and destructive arthritis.|ORDO|N|
C0311335|A type of bilateral convulsive seizure of generalized onset that is sufficiently prolonged (or repeated without recovery) to reach the threshold for status epilepticus.|HPO|N|
C0311337|Swelling and inflammation of the nerve between the ends of the metatarsal bones at the base of the toes. It is caused by compression of the nerve, usually between the third and fourth toes. It results in a burning, sharp pain and numbness on the bottom of the foot in the area involved. Symptoms may resolve by resting the foot, taking anti-inflammatory drugs, applying ice packs, or injecting cortisone at the site. Persistent symptoms require surgical excision of the affected nerve.|NCI|N|
C0311338|This form of fleck retina disease (see 228980) is characterized by discrete uniform white dots over the entire fundus with greatest density in the midperiphery and no macular involvement. Night blindness occurs. Both autosomal dominant and autosomal recessive inheritance had been suggested (Krill and Folk, 1962; Krill, 1977).|OMIM|N|
C0311370|A hypercoaguable state that results from the presence of the immunoglobulin known as Lupus Anticoagulant. The antibody interacts with cell membrane phospholipids, causing increased aggregation and adhesion of platelets, which causes increased clot formation. Though the majority of patients who test positive for lupus anticoagulant do not have lupus, those individuals afflicted with lupus have a higher probability of developing the antibody.|NCI|N|
C0311376|A bacterial infection that is transmitted from animals to people.|NCI|N|
C0311386|Isosporiasis (also known as cystoisosporiasis) is an exclusively human parasitosis occurring mainly in the tropics and subtropics, due to infection with <i>Isospora belli</i> (through ingestion of contaminated food), that is frequently asymptomatic or that can cause fever and diarrhea, but that is usually a self-limiting condition in the immunocompetent. HIV-positive individuals are particularly at risk of suffering from symptomatic isosporiasis and can manifest with a more severe clinical course of chronic diarrhea and severe weight loss.|ORDO|N|
C0311392|Objective evidence of disease perceptible to the examining healthcare provider.|NCI|N|
C0311394|Reduced ability to walk (ambulate).|HPO|N|
C0311395|leg pain and weakness brought on by walking|CHV|N|
C0311468|An increased amount of bilirubin in the blood.|HPO|N|
C0312413|Involuntary loss of urine associated with overdistention of the bladder.|NANDA-I|N|
C0312416|The nausea and vomiting that accompanies early pregnancy.|NCI|N|
C0312420|Pathological persistent sexual disinhibiting behavior, directed towards oneself or others.|HPO|N|
C0312422|A temporary loss of consciousness or a temporary state of altered consciousness that results in memory loss.|NCI|N|
C0314656|The presence of two or more genetic loci on the same chromosome. Extensions of this original definition refer to the similarity in content and organization between chromosomes, of different species for example.|MSH|N|
C0314657|A latent susceptibility to disease at the genetic level, which may be activated under certain conditions.|MONDO|N|
C0314761|Harmless or beneficial population of microorganisms or plant life that normally occur in specific areas of the body or the environment.|NCI|N|
C0332128|Having been subjected to inspection or evaluation.|NCI|N|
C0332133|Admitting diagnosis are the diagnoses documented for administrative purposes as the basis for a hospital admission.CHAR(13)|HL7V3.0|N|
C0332140|A diagnosis made from a study of the signs and symptoms of a disease.|NCI|N|
C0332145|Diagnosis of a disease or condition made after DEATH.|MSH|N|
C0332149|Capable of happening or occurring.|NCI|N|
C0332183|Present in 30% to 79% of the cases.|HPO|N|
C0332196|Present in 0% of the cases.|HPO|N|
C0332218|A response indicating that something is or was difficult.|NCI|N|
C0332219|Posing no difficulty; requiring little effort.|NCI|N|
C0332377|A primary tumor TNM finding indicating that the status of the primary tumor cannot be assessed.|NCI|N|
C0332382|A general term that refers to a TNM finding of cancer metastases in multiple lymph nodes. The definition of N4 TNM finding depends on the specific type of cancer that it refers to; for example, for ocular adnexal lymphoma it refers to metastases to central lymph nodes.|NCI|N|
C0332390|No morphologic evidence of primary tumor, in accordance with TNM classification system guidelines.|NCI|N|
C0332391|A pathologic primary tumor TNM finding. The definition of pT1 finding depends on the particular type of cancer that it refers to; for example, for breast cancer, pT1 finding is defined as follows: cancer with tumor size 2.0 cm or less in greatest dimension; for colorectal cancer, pT1 stage finding is defined as follows: cancer with invasion into the submucosa. (from AJCC 6th and 7th Eds.)|NCI|N|
C0332392|A pathologic primary tumor TNM finding. The definition of pT2 finding depends on the particular type of cancer that it refers to; for example, for breast cancer, pT2 finding is defined as follows: cancer with tumor size more than 2.0 cm, but not more than 5.0 cm in greatest dimension; for colorectal cancer, pT2 finding is defined as follows: cancer with invasion into the muscularis propria. (from AJCC 6th and 7th Eds.)|NCI|N|
C0332393|A pathologic primary tumor TNM finding. The definition of pT3 finding depends on the particular type of cancer that it refers to; for example, for breast cancer, pT3 finding is defined as follows: cancer with tumor size more than 5.0 cm in greatest dimension; for kidney cancer, pT3 finding is defined as follows: cancer with tumor extending into major veins or perinephric tissues but not into the ipsilateral adrenal gland and not beyond Gerota''s fascia. (from AJCC 7th Ed.)|NCI|N|
C0332396|No morphologic evidence of regional lymph node metastasis by routine histologic staining, in accordance with TNM classification system guidelines.|NCI|N|
C0332397|A pathologic regional lymph node TNM finding. The definition of pN1 finding depends on the particular type of cancer that it refers to; for example, for breast cancer, pN1 finding is defined as follows: cancer with micrometastases (approximately 200 cells, larger than 0.2 mm, but none larger than 2.0 mm). (from AJCC 8th Ed.)|NCI|N|
C0332398|A pathologic regional lymph nodes TNM finding. The definition of pN2 finding depends on the particular type of cancer that it refers to; for example, for breast cancer, pN2 finding is defined as follows: cancer with metastases in 4 to 9 axillary lymph nodes, or metastases in clinically detected internal mammary lymph nodes in the absence of axillary lymph node metastases. ""Clinically detected"" is defined as detected by imaging studies (excluding lymphoscintigraphy) or by clinical examination and having characteristics highly suspicious for malignancy or a presumed pathologic macrometastasis based on fine needle aspiration biopsy with cytologic examination; for colorectal cancer, pN2 stage finding is defined as follows: cancer with metastasis in four or more regional lymph nodes. (from AJCC 7th Ed.)|NCI|N|
C0332399|A pathologic regional lymph node TNM finding. The definition of pN3 finding depends on the particular type of cancer that it refers to; for example, for bladder cancer, pN3 finding is defined as follows: cancer with lymph node metastasis to the common iliac lymph nodes. (from AJCC 8th Ed.)|NCI|N|
C0332402|No morphologic evidence of distant metastasis, in accordance with TNM classification system guidelines.|NCI|N|
C0332424|Ann Arbor Classification: Stage I: Involvement of a single lymph node region (I); or localized involvement of a single extralymphatic organ or site in the absence of any lymph node involvement (IE) (rare in Hodgkin lymphoma).|NCI|N|
C0332426|Ann Arbor Classification: Stage II: Involvement of two or more lymph node regions on the same side of the diaphragm (II); or localized involvement of a single extralymphatic organ or site in association with regional lymph node involvement with or without involvement of other lymph node regions on the same side of the diaphragm (IIE).|NCI|N|
C0332428|Ann Arbor Classification: Stage III: Involvement of lymph node regions on both sides of the diaphragm (III), which also may be accompanied by extralymphatic extension in association with adjacent lymph node involvement (IIIE) or by involvement of the spleen (IIIS) or both (IIIE,S).|NCI|N|
C0332434|Ann Arbor Classification: Stage IV: Diffuse or disseminated involvement of one or more extralymphatic organs, with or without associated lymph node involvement; or isolated extralymphatic organ involvement in the absence of adjacent regional lymph node involvement, but in conjunction with disease in distant site(s); or any involvement of the liver or bone marrow, lungs (other than by direct extension from another site), or cerebrospinal fluid.|NCI|N|
C0332448|The process of the diffusion or accumulation in a tissue or cells of a substance not normal to it or in amounts above normal. (NCI)|NCI|N|
C0332477|A plaque (a solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter) with a red or reddish color often associated with inflammation or irritation.|HPO|N|
C0332532|A change resulting in a consistency that is different from the original.|NCI|N|
C0332534|The quality of being hard, the process of hardening, or an abnormally hard spot or place, particularly of the skin.|NCI|N|
C0332535|A finding indicating the tendency of a tissue sample or solid substance to break into small pieces under pressure or contact.|NCI|N|
C0332550|A morphologic finding indicating reduced tissue density.|NCI|N|
C0332563|A circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point.|HPO|N|
C0332572|A change in color that deviates from the norm or outwith the bounds of what is considered normal.|NCI|N|
C0332573|A flat, distinct, discolored area of skin less than 1 cm wide that does not involve any change in the thickness or texture of the skin.|HPO|N|
C0332579|A reddish-blue mottled condition of skin caused by inflammation of the cutaneous blood vessels.|HPO|N|
C0332601|A rounded, puffy face with fat deposits in the temporal fossa and cheeks, a double chin.|HPO|N|
C0332606|This is a description previously used to describe a facial form characterized by a short, upturned nose, wide mouth, widely spaced eyes, and full cheeks. Because of the imprecision in this definition it is preferable to describe these features precisely. This term is retained because it was often used in the past, but it should not be used for new annotations.|HPO|N|
C0332615|A facial appearance characteristic of myopathic conditions. The face appears expressionless with sunken cheeks, bilateral ptosis, and inability to elevate the corners of the mouth, due to muscle weakness.|HPO|N|
C0332743|A delay in healing of a fracture past the expected duration.|HPO|N|
C0332768|A partial dislocation of a joint.|HPO|N|
C0332778|Abnormal separation of bones, often from a LIGAMENT.|MSH|N|
C0332790|The abnormal fusion of neighboring bones across a joint.|HPO|N|
C0332792|Dislocation of many joints.|HPO|N|
C0332865|Abnormal tissue formation due to abnormal cellular organization, which may result in a morphologic defect.|NCI|N|
C0332877|Fusion, stoppage, or loss of patency occurring before the usual or proper time.|NCI|N|
C0332878|One or more flexion contractures (a bent joint that cannot be straightened actively or passively) that are present at birth.|HPO|N|
C0332890|Overgrowth of only one side of the body.|HPO|N|
C0332915|congenital defects of closure of one or more vertebral arches, which may be associated with malformations of the spinal cord, nerve roots, congenital fibrous bands, lipomas, and congenital cysts.|CSP|N|
C0332965|A rare simple vascular malformation characterized by a congenital abnormal connection between an artery and a vein, appearing as varicose veins with port wine discoloration, leading to a bypass of the capillary bed. Signs and symptoms include palpable continuous thrill in the dilated vessels, continuous machinery murmur with systolic accentuation, collapsing arterial pulse, Nicoladoni Branham sign, as well as local gigantism and hot ulcers due to hypoxia, among others.|ORDO|N|
C0332996|An embryological structure that is retained past the usual embryonic stage.|NCI|N|
C0333014|Large branching stones that fill part of all of the renal pelvis and renal calyces and they can be complete or partial depending on the level of occupancy of the collecting system.|HPO|N|
C0333068|A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints.|HPO|N|
C0333099|Elongated, spindle-shaped dilation in the wall of blood vessels, usually large ARTERIES with ATHEROSCLEROSIS.|MSH|N|
C0333101|An aneurysm that is located within the system of small blood vessels, including capillaries, venules, and arterioles, that perfuse the body''s tissues.|NCI|N|
C0333121|A type of acellular urinary cast that are composed only of Tamm-Horsfall glycoprotein, a fact which explains their low refractive index. Hyaline casts may display a spectrum of morphologies, which includes fluffy, compact, convoluted or wrinkled casts. Hyaline casts have a smooth texture and usually have parallel sides with clear margins and blunted ends.|HPO|N|
C0333128|A comedo in which the part of the pore at the surface of the skin is stretched and open, exposing the contents of the comedo, which appear black.|HPO|N|
C0333133|Mucus that is abnormally thick in consistency (ie, inspissated) and plugs the airway is known as a mucus plug. Mucus plugs consist of mucins and cells and can partially or completely obstruct one or more airways and cause serious consequences, including atelectasis and recurrent infection.|HPO|N|
C0333138|a state in which the normal flow of a body liquid stops|CHV|N|
C0333139|The presence of gas in an anatomical location where it is not normally found.|NCI|N|
C0333145|A cyst containing blood.|NCI|N|
C0333157|Benign, congenital, neuroepithelial cysts that are typically filled with a viscous mucus. They usually arise in the anterior portion of the THIRD VENTRICLE between the fornices.|MSH|N|
C0333186|The reoccurrence of stenosis after it has been treated.|NCI|N|
C0333222|Embolization of intravascular thrombus containing microorganisms into the distant tissues via arterial system.|HPO|N|
C0333243|Swelling due to excessive accumulation of fluid under the skin defined by a persistent indentation when pressure is applied to the swollen area. Causes include systemic conditions (e.g., heart failure, liver failure, or kidney failure) and local conditions affecting the extremities.|NCI|N|
C0333262|A small (less than 1 cm) fluid-filled lesion, raised above the plane of surrounding skin|SNOMEDCT_US|N|
C0333271|The leaking of serosanguinous fluids from an orifice or wound.|NCI|N|
C0333274|Pus-containing fluid that is draining from an orifice or wound.|NCI|N|
C0333288|Extravasation of blood into the arterial wall following a tear in the intima and leading to separation of the layers of the wall.|SNOMEDCT_US|N|
C0333302|An ulcer of the colon due to pressure and irritation from retained fecal masses.|HPO|N|
C0333355|Inflammation of the mucous membranes.|NCI|N|
C0333361|A morphologic finding indicating the presence of neutrophils and/or eosinophils in a tissue sample.|NCI|N|
C0333373|A very small, tiny abscess.|NCI|N|
C0333374|Accumulation of polymorphonuclear neutrophils in the mucosal crypts of the colon. It occurs in ulcerative colitis.|NCI|N|
C0333383|The coexistence of a chronic inflammatory process with a superimposed polymorphonuclear neutrophilic infiltration.|NCI|N|
C0333386|A morphologic finding referring to the presence of a cellular infiltrate that is composed of non-neoplastic or neoplastic lymphocytes in a tissue sample.|NCI|N|
C0333411|A cystic inflammatory lesion that is comprised of fluids, lipids, and cholesterol crystals, and which is surrounded by a fibrous lining.|NCI|N|
C0333416|A lump of extravasated sperm in the paratesticular region in men who have undergone vasectomy.|NCI|N|
C0333418|A granuloma which is not associated with necrotic changes.|HPO|N|
C0333438|A process of tissue replacement where the tissue is being replaced by hyaline or the tissue has degenerated to hyaline.|NCI|N|
C0333440|Eosinophilic hyaline ovoid bodies which are often found in the subepidermal papillary regions or sometimes in the epidermis. Civatte bodies (CBs) are seen as rounded, homogenous, eosinophilic masses on routine H and E staining lying in the deeper parts of epidermis/epithelium and more frequently in dermis/connective tissue. They are known as CBs (in epithelium/epidermis), colloid bodies, or hyaline bodies (in connective tissue). They are 10-25 micrometers in diameter and situated mostly within or above the inflammatory cell infiltrate. In lichen planus, the number of necrotic keratinocytes may be so large that they are seen lying in clusters in the uppermost dermis. These bodies show a positive periodic acid Schiff reaction and are diastase resistant|HPO|N|
C0333448|Degenerative changes in elastic tissues.|NCI|N|
C0333454|Electron-dense granules within double membrane-bound cytoplasmic vacuoles.|HPO|N|
C0333463|Senile plaques are extracellular deposits of amyloid in the gray matter of the brain.|HPO|N|
C0333484|Yellow-colored streaks, patches, or spots on the intimal surface of arteries. Fatty streaks stain red with Sudan III or Sudan IV.|HPO|N|
C0333490|Medial degeneration of the aorta is to be used as an overarching term for any aortic surgical specimens that demonstrate one or more of the specific histopathologies mucoid extracellular matrix accumulation, elastic fiber fragmentation and/or loss, elastic fiber thinning, elastic fiber disorganization, smooth muscle cell nuclei loss, laminar medial collapse, smooth muscle cell disorganization, medial fibrosis. Grading of medial degeneration is based on the average overall severity of specific histopathologies as described, considering the worst area(s) sampled from multiple slides and aorta sections.|HPO|N|
C0333497|Segmental solidification of the glomerular tuft by increased extracellular matrix, causing glomerular capillary obliteration and can include hyalinosis, foam cells, hypertrophy of overlying glomerular epithelial cells, podocyte depletion, halo and adhesion of the tuft to the Bowman capsule.|HPO|N|
C0333514|A morphologic finding referring to the presence of necrosis that is confined to a specific anatomic zone. Representative example is the hepatic zonal necrosis that affects the hepatic parenchyma either in the portal areas or around the hepatic veins.|NCI|N|
C0333516|The destruction of tumor cells or a reduction in swelling.|NCI|N|
C0333554|An area of pseudoinfarction with congestion and parenchymal atrophy but no infarction|SNOMEDCT_US|N|
C0333559|Brain infarction that affects small subcortical vessels due to occlusion of a penetrating artery deep in the brain. It may lead to lacunar stroke.|MSH|N|
C0333563|Hyaline membranes are homogeneous eosinophilic material composed of cellular debris, plasma proteins, and surfactant plastered against alveolar ducts and alveolar walls. The hyaline membranes are deposited along the walls of the alveoli, where gas exchange typically occurs, thereby making gas exchange difficult.|HPO|N|
C0333577|Deposition of cholesterol in the skin. It appears as a slightly elevated and yellow bump usually in the skin around the eyes.|NCI|N|
C0333582|Calcium deposits in degenerated or necrotic tissue without abnormalities in blood calcium.|NCI|N|
C0333606|a degenerative disorder|CHV|N|
C0333641|Any weakening or degeneration, especially through lack of use.|NCI|N|
C0333650|Shrinking of adipose tissue.|NCI|N|
C0333662|Undergrowth of the limbs that affects only one side.|HPO|N|
C0333678|The occurrence in an individual of two or more cell populations of different chromosomal constitutions, derived from different individuals. This contrasts with mosaicism in which the different cell populations are derived from a single individual.|NCI|N|
C0333688|A type of nuclear polyploidization in which multiple cycles of DNA REPLICATION occur in the absence of CELL DIVISION and result in a POLYPLOID CELL.|MSH|N|
C0333689|A chromosomal disorder consisting of the presence of two chromosomes of the same type in addition to the normal diploid number.|MONDO|N|
C0333691|A chromosomal abnormality in which a somatic cell is missing a single member of one or more pairs of homologous chromosomes.|NCI|N|
C0333693|Triploidy is a rare chromosomal anomaly, polyploidy, characterized by early in utero growth restriction, and multiple birth defects, including neural tube defects, facial abnormalities, cleft lip/palate, congenital heart anomalies, genital malformations, and peripheral skeletal abnormalities. It is usually prenatally lethal.|ORDO|N|
C0333694|A numerical chromosomal abnormality characterized by the presence of four complete sets of chromosomes.|NCI|N|
C0333706|A chromosome inversion involving a segment that includes the centromere.|NCI|N|
C0333707|A chromosome inversion involving a segment that does not include the centromere.|NCI|N|
C0333710|An abnormal chromosome with two centromeres as opposed to the normal one centromere.|NCI|N|
C0333712|The dissolution of chromatin in a cell.|NCI|N|
C0333715|A chromosomal translocation where the participating chromosomes each break at the centromere and the long arms fuse to form a single, large chromosome.|NCI|N|
C0333731|Thick, elongated, worm-like or corkscrew eosinophilic bundle that are found on H&E staining of the brain in the presence of long standing gliosis, occasional tumors, and some metabolic disorders.|HPO|N|
C0333732|Degeneration of the cell nucleus marked by contraction of the chromatin into small pieces and loss of the nuclear boundary.|NCI|N|
C0333734|The phagocytic destruction of nerve cells.|NCI|N|
C0333744|Cytoplasmic hyaline inclusions of hepatocytes that are predominantly filamentous ranging from a diameter of 3 to 24 nm vs. 10 nm of classical IF. Mallory-Denk bodies can be classified as type I (parallels filaments), II (randomly orient filaments), or III (granular and amorphous). Type II occurs in the periphery while type III occurs around the center. MDB occur in ballooned hepatocytes.|HPO|N|
C0333746|Basophilic intracytoplasmic inclusions in macrophages. The inclusions have a small, round laminated appearance. Electron microscopy of Michaelis-Gutmann bodies exhibits partially digested bacteria.|HPO|N|
C0333749|An intraneuronal inclusion body composed of acid mucopolysaccharides.|HPO|N|
C0333759|The presence of an increased amount of muscle fibers with an increased diameter. This feature can be ascertained by microscopic examination of a muscle biopsy sample. Together with fiber size variation and atrophied muscle fibers, and hypertrophied muscle fibers are commonly found in myopathies.|HPO|N|
C0333770|Ring fibers are formed by a bundle of peripheral myofibrils which are circumferentially oriented such that they encircle the internal portion of the sarcoplasm which is normal in structure and orientation.|HPO|N|
C0333776|Intralysosomal, osmiophilic, lamellated and sometimes concentric cytoplasmic inclusions comprised of broad transversely-stacked myelinoid membranes and said to resemble a zebra in electron microscopic images.|HPO|N|
C0333777|Fingerprint bodies are inclusion bodies located at the periphery of the muscle fibers underneath the sarcolemma (subsarcolemmal), consisting of non-membrane-bound packed lamellae arranged in concentric patterns resembling fingerprints.|HPO|N|
C0333780|Rounded or oval structures that appeared brown on hematoxylin and eosin and red on the modified Gomori trichrome stain.|HPO|N|
C0333814|A type of erythrocyte inclusion characterized by basophilic stippling of erythrocytes, that is, by numerous very small coarse or fine blue granules within the cytoplasm with the additional stipulation that the stippled particles are due to iron granules (demonstrable by the Prussian blue stain).|HPO|N|
C0333864|Giant platelets are larger than 7 micrometers and usually 10 to 20 micrometers. The term giant platelet is used when the platelet is larger than the size of the average red cell in the field. (Description adapted from College of American Pathologists, Hematology Manual, 1998).|HPO|N|
C0333865|The presence of irregularly shaped or sized cells as compared to the cells that are normally present.|NCI|N|
C0333873|A precancerous neoplastic intraepithelial process involving the squamous epithelium.|NCI|N|
C0333875|A precancerous neoplastic process characterized by the presence of moderate or severe dysplastic cytological changes which extend to the upper part of the squamous epithelium. Maturation at the surface of the squamous epithelium may or may not be present. Representative examples include the high grade esophageal squamous intraepithelial neoplasia, high grade cervical squamous intraepithelial neoplasia, high grade vaginal intraepithelial neoplasia, and high grade vulvar intraepithelial neoplasia.|NCI|N|
C0333895|A microscopic finding indicating the presence of an atypical neoplastic cellular infiltrate with cytologic characteristics and/or architectural patterns that are not diagnostic, but raise the possibility of malignancy.|NCI|N|
C0333896|An abnormality often noted in pap smears. Koilocytotic atypia affects the squamous epithelium of the transformation zone. The cells involved show cytoplasmic vacuolization that might be related to their ability to store glycogen. The most characteristic feature of this condition is the peripheral cytoplasmic condensation associated with an increase of tonofilaments. (from Acta Cytol 1981;25:377-82)|NCI|N|
C0333902|An increase in the size of a cellular nucleus.|NCI|N|
C0333910|A morphologic finding referring to the presence of darkly stained nuclei due to abundance of DNA on hematoxylin-eosin stained sections. It is suggestive of malignancy.|NCI|N|
C0333912|A qualitative impression that red blood cells have less color than normal when examined under a microscope, usually related to a reduced amount of hemoglobin in the red blood cells.|HPO|N|
C0333942|Increased variation in the color of the erythrocytes (red blood cells), including pale red, normal or dark colors, indicating a highly variable hemoglobin concentration. Typically this indicates the release of immature erythrocytes in states of anemia.|HPO|N|
C0333980|Hepatic focal nodular hyperplasia (FNH) is a benign hepatic tumor. FNH develops within hepatic parenchymal tissue that is otherwise histologically normal. Macroscopically, the tumor is characterized by the presence of depressed, grayish-white scar, which is generally (but not always) located at the center of the lesion, with fibrous septa radiating outward, toward the periphery of the tumor. This stellate scar is found in only 50% of all FNH nodules, but its presence is regarded as pathognomonic. The lesion itself is usually lighter in color than the tissue that surrounds it, and it sometimes has a yellowish hue. FNH nodules are generally not capsulated; their margins are well defined, and they are sometimes lobulated.|HPO|N|
C0333983|A polyp found mainly in the stomach and colon. Microscopically, it is characterized by elongated, serrated crypts lined by proliferative epithelium. Hyperplastic polyps are traditionally considered non-neoplastic, but ras mutation is common, clonality has been demonstrated and biochemical abnormalities and epidemiological associations that occur in colorectal adenomas and carcinomas have been found (WHO Tumors of the Digestive System, 2000).|NCI|N|
C0333987|A hyperplasia of the mesothelial cells.|NCI|N|
C0333988|A benign lesion characterized by epidermal and adnexal epithelial hyperplasia. It is caused by chronic inflammation and infection. It may be associated with cutaneous neoplasms as well.|NCI|N|
C0333990|A pathologic hyperplastic process characterized by the proliferation of the cells of the epithelial layer that resemble the basal cells of the lower part of the epidermis.|NCI|N|
C0333992|An acanthoma characterized by the presence of psoriasiform epidermal acanthosis and basal cells with pale cytoplasm.|NCI|N|
C0333994|A hyperplasia of the intraductal cells.|NCI|N|
C0333997|An abnormal bone marrow finding characterized by many poorly circumscribed and occasionally confluent lymphoid nodules. The nodules contain small and uniform lymphocytes with rounded nuclei, clumped chromatin, and without prominent nucleoli.|HPO|N|
C0333998|Lymphoid nodular hyperplasia (LNH) of the terminal ileum and colon has been considered a mucosal response to nonspecific stimuli, most often infections, and consequently has been regarded as a pathophysiologic phenomenon during infancy and childhood. LNH can be ascertained by colonoscopy, whereby a lymphoid nodule is defined as an extruding follicle with a diameter of not more than 2 mm, and LNH is defined as a cluster of not more than 10 of such extruding lymphoid nodules (see Figure 1 of PMID:17368236).|HPO|N|
C0334000|Proliferation of the glandular epithelial cells.|NCI|N|
C0334001|Proliferation of glandular epithelial cells associated with the presence of cytologic atypia and architectural growth pattern changes.|NCI|N|
C0334013|A skin condition characterized by excessive development of keratin in hair follicles, resulting in rough, cone-shaped, elevated papules resulting from closure of hair follicles with a white plug of sebum.|HPO|N|
C0334019|Seborrheic keratosis that arises from follicular structures in the skin. It presents as a solitary nodule in the skin and is characterized by the presence of prominent squamous eddies.|NCI|N|
C0334033|A morphologic finding that refers to the replacement of non-transitional epithelium (e.g., squamous epithelium) with transitional epithelium.|NCI|N|
C0334035|A morphologic finding indicating the alteration of the squamous or transitional epithelial cells to glandular cells.|NCI|N|
C0334036|A morphologic finding indicating the alteration of the glandular acinar epithelial cells to apocrine sweat gland cells.|NCI|N|
C0334037|A morphologic finding indicating the replacement of epithelial tissue outside the intestines by intestinal-type epithelium.|NCI|N|
C0334039|So-called nephrogenic adenoma is a distinct metaplastic lesion of the urothelium characterized by aggregates of cuboidal or hobnail cells. These cells line thin papillary fronds on the surface or form tubular structures within the lamina propria.|NCI|N|
C0334040|Heterotopic formation of normal bone within soft tissue.|NCI|N|
C0334041|Disorders of GNAS inactivation include the phenotypes pseudohypoparathyroidism Ia, Ib, and Ic (PHP-Ia, -Ib, -Ic), pseudopseudohypoparathyroidism (PPHP), progressive osseous heteroplasia (POH), and osteoma cutis (OC). PHP-Ia and PHP-Ic are characterized by: End-organ resistance to endocrine hormones including parathyroid hormone (PTH), thyroid-stimulating hormone (TSH), gonadotropins (LH and FSH), growth hormone-releasing hormone (GHRH), and CNS neurotransmitters (leading to obesity and variable degrees of intellectual disability and developmental delay); and The Albright hereditary osteodystrophy (AHO) phenotype (short stature, round facies, and subcutaneous ossifications) and brachydactyly type E (shortening mainly of the 4th and/or 5th metacarpals and metatarsals and distal phalanx of the thumb). Although PHP-Ib is characterized principally by PTH resistance, some individuals also have partial TSH resistance and mild features of AHO (e.g., brachydactyly). PPHP, a more limited form of PHP-Ia, is characterized by various manifestations of the AHO phenotype without the hormone resistance or obesity. POH and OC are even more restricted variants of PPHP: POH consists of dermal ossification beginning in infancy, followed by increasing and extensive bone formation in deep muscle and fascia. OC consists of extra-skeletal ossification that is limited to the dermis and subcutaneous tissues.|GeneReviews|N|
C0334044|A usually neoplastic transformation of the cell, associated with altered architectural tissue patterns. The cellular changes include nuclear and cytoplasmic abnormalities. Molecular genetic abnormalities are also often found and, in some instances, may lead to cancer.|NCI|N|
C0334046|A morphologic finding indicating the presence of mild cellular atypia associated with mild architectural changes in a tissue sample.|NCI|N|
C0334047|A morphologic finding indicating the presence of moderate cellular atypia associated with moderate architectural changes in a tissue sample.|NCI|N|
C0334048|A morphologic finding indicating the presence of severe cellular atypia associated with severe architectural changes in a tissue sample.|NCI|N|
C0334050|Any disease or disorder of a gland, characterized by abnormal development or enlargement of the gland.|NCI|N|
C0334056|Breast fibrocystic change characterized by the presence of epithelial cell hyperplasia. Epithelial atypia is present.|NCI|N|
C0334058|A precancerous neoplastic process that affects the squamous, glandular, or transitional cell epithelium without evidence of invasion. It is characterized by the presence of mild epithelial dysplasia.|NCI|N|
C0334063|A rare, benign, epidermal disease characterized by a solitary, asymptomatic, verrucous, skin-coloured to red-brown papule or nodule, which contains a central pore and keratotic plug, occuring most frequently on the scalp, face and neck (rarely, in the mouth, under the nail plate or on the mons pubis). Occasionally, lesions may be multiple and/or pruritic. Histologically, a well-circumscribed, cup-shaped, keratin-filled invagination, with prominent acantholytic dyskeratosis, suprabasilar clefts and villi projecting into the clefts, is observed.|ORDO|N|
C0334067|A tumor histologically indistinguishable from, but larger than, benign fibrous histiocytoma of bone.|NCI|N|
C0334082|PIK3CA-related overgrowth spectrum (PROS) encompasses a range of clinical findings in which the core features are congenital or early-childhood onset of segmental/focal overgrowth with or without cellular dysplasia. Prior to the identification of PIK3CA as the causative gene, PROS was separated into distinct clinical syndromes based on the tissues and/or organs involved (e.g., MCAP [megalencephaly-capillary malformation] syndrome and CLOVES [congenital lipomatous asymmetric overgrowth of the trunk, lymphatic, capillary, venous, and combined-type vascular malformations, epidermal nevi, skeletal and spinal anomalies] syndrome). The predominant areas of overgrowth include the brain, limbs (including fingers and toes), trunk (including abdomen and chest), and face, all usually in an asymmetric distribution. Generalized brain overgrowth may be accompanied by secondary overgrowth of specific brain structures resulting in ventriculomegaly, a markedly thick corpus callosum, and cerebellar tonsillar ectopia with crowding of the posterior fossa. Vascular malformations may include capillary, venous, and less frequently, arterial or mixed (capillary-lymphatic-venous or arteriovenous) malformations. Lymphatic malformations may be in various locations (internal and/or external) and can cause various clinical issues, including swelling, pain, and occasionally localized bleeding secondary to trauma. Lipomatous overgrowth may occur ipsilateral or contralateral to a vascular malformation, if present. The degree of intellectual disability appears to be mostly related to the presence and severity of seizures, cortical dysplasia (e.g., polymicrogyria), and hydrocephalus. Many children have feeding difficulties that are often multifactorial in nature. Endocrine issues affect a small number of individuals and most commonly include hypoglycemia (largely hypoinsulinemic hypoketotic hypoglycemia), hypothyroidism, and growth hormone deficiency.|GeneReviews|N|
C0334083|Connective tissue nevi are hamartomas in which one or several components of the dermis is altered.|HPO|N|
C0334087|A hamartoma characterized by the presence of cartilaginous elements.|NCI|N|
C0334090|A hamartoma characterized by the presence of mesenchymal elements.|NCI|N|
C0334092|A polyp characterized by an overgrowth of mature cells and tissues that normally occur in the affected area.|NCI|N|
C0334096|Thickening of the tunica intima of a blood vessel due to injury.|NCI|N|
C0334102|A lymphangioma affecting several anatomic sites.|NCI|N|
C0334106|Dysplastic papular lesions presenting on the genitalia of either sex. The lesions are associated with human papillomavirus infection. The majority of cases have a benign clinical course, although, a small number of cases with malignant transformation have been reported.|NCI|N|
C0334108|A condition characterized by the presence of numerous polyps.|NCI|N|
C0334113|A benign, often polypoid, hypocellular fibroblastic neoplasm with a predilection for the stomach and ileum, containing a prominent inflammatory infiltrate, especially eosinophils. (WHO 2019)|NCI|N|
C0334121|A rare neoplastic lesion of the submucosal stroma, which can develop in any organ, often occurring in the lung, mesentery, omentum and the retroperitoneal region. It is histologically heterogenous, composed of spindle-shaped cells, myofibroblasts and inflammatory cells. It is usually benign, however local invasion, recurrence, malignant transformation with vascular invasion and metastases may occur. The presentation is nonspecific and depends on the organ involved. Some patients may present with paraneoplastic syndrome (fever, malaise, weight loss, thrombocytosis) or symptoms related to compression of adjacent organs, such as bowel obstruction.|SNOMEDCT_US|N|
C0334126|Multiple subcutaneous non-fragile and skin-coloured papules characterized by interstitial infiltrate of spindle and epithelioid histiocytes, and mucin. There are well circumscribed aggregates of epithelioid histiocytes and mucin in the upper and middle dermis,with the histiocytes arranged between collagen bundles and separated from the epidermis by a Grenz zone.|HPO|N|
C0334144|The presence of thick collagen bundles around blood vessels, often in an onion-skin type whorling pattern.|HPO|N|
C0334160|A morphologic finding indicating the presence of fibrous bands connecting portal tracts, portal tracts and centrilobular spaces, or centrilobular spaces in a liver tissue sample in a patient with evolving cirrhosis.|NCI|N|
C0334209|A non-neoplastic and self-limited condition that occurs during pregnancy. It is characterized by proliferation of luteinized stromal cells that replace the normal ovarian stromal cells. It is usually manifested with bilateral multinodular ovarian masses. Treatment is not required.|MONDO|N|
C0334224|A malignant neoplasm in which the examined tissue can not be determined with certainty if it represents the primary site of tumor growth or tumor spread from another anatomic site.|NCI|N|
C0334225|A morphologic finding indicating the presence of a cellular infiltrate without atypia in a tumor sample.|NCI|N|
C0334228|A malignant neoplasm characterized by the presence of small atypical cells.|NCI|N|
C0334229|A malignant neoplasm characterized by then presence of atypical giant cells.|NCI|N|
C0334230|A malignant neoplasm characterized by the presence of atypical spindle cells.|NCI|N|
C0334232|A neoplasm that arises from epithelial cells and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C0334233|A usually aggressive malignant epithelial neoplasm composed of cells with significant cytologic atypia and nuclear pleomorphism.|NCI|N|
C0334234|A malignant epithelial neoplasm composed of giant, pleomorphic cells and spindle cells.|NCI|N|
C0334236|A malignant epithelial neoplasm composed of atypical polygonal cells with a large amount of eosinophilic cytoplasm. A representative example is the fibrolamellar hepatocellular carcinoma.|NCI|N|
C0334238|A neuroendocrine carcinoma composed of malignant fusiform small cells.|NCI|N|
C0334239|A neuroendocrine carcinoma composed of malignant small cells of intermediate shape.|NCI|N|
C0334242|An epithelial neoplasm with a papillary growth pattern in which the malignant cells are confined to the epithelium, without evidence of invasion.|NCI|N|
C0334243|A benign epithelial neoplasm characterized by a papillary growth pattern, lack of significant cytologic atypia, and a wart-like appearance.|NCI|N|
C0334244|A well differentiated squamous cell carcinoma characterized by a papillary, exophytic growth pattern and hyperkeratosis. The most commonly affected anatomic sites are the larynx, penis, cervix, vagina, and vulva.|NCI|N|
C0334245|A malignant epithelial neoplasm confined to the squamous epithelium, without invasion of the underlying tissues.|NCI|N|
C0334246|A carcinoma that arises from squamous cells and has spread from its original site of growth to another anatomic site.|NCI|N|
C0334247|Squamous cell carcinomas with morphologically prominent production of keratin.|NCI|N|
C0334248|A squamous cell carcinoma composed of large atypical cells, without morphologic evidence of keratin production.|NCI|N|
C0334249|A squamous cell carcinoma composed of small atypical cells, without morphologic evidence of keratin production.|NCI|N|
C0334251|A malignant epithelial neoplasm involving all the layers of the squamous epithelium, but it is not certain if it is confined to the squamous epithelium or it has invaded the basement membrane and the underlying stroma.|NCI|N|
C0334252|A squamous cell carcinoma with minimal stromal invasion.|NCI|N|
C0334254|A nonkeratinizing carcinoma which occurs predominantly in the nasopharynx but also in the tonsils and rarely in other anatomic sites. It is characterized by the presence of large malignant cells with vesicular nuclei, prominent nucleoli, syncytial growth pattern, and a lymphoplasmacytic infiltrate.|NCI|N|
C0334256|A superficial basal cell carcinoma of the skin characterized by the presence of lobules of basaloid cells which are separated by large distances and represent multifocal discrete tumors.|NCI|N|
C0334257|A variant of basal cell carcinoma presenting as a pale, indurated plaque, usually in the upper trunk or face. Morphologically, it is characterized by the presence of strands, cords, and columns of basaloid cells infiltrating the dermis. Perineural invasion may be present and the basaloid cell infiltrate may extend into deeper tissues.|NCI|N|
C0334262|A rare benign follicular hamartoma that develops primarily on the face of adults, with a particular predilection for the back of the nose, but also on the neck or scalp. It presents as a solitary hemispheric flesh-colored nodule with a central pore or black dot that may contain a tuft of hair.|ORDO|N|
C0334263|A benign tumor originating from the outer root sheath of the hair follicle.|HPO|N|
C0334265|A benign or malignant, primary or metastatic neoplasm affecting the transitional cells.|NCI|N|
C0334266|A benign papillary neoplasm composed of transitional cells which show preservation of the nuclear polarity.|NCI|N|
C0334267|A lesion in which the surface epithelium of the bladder or the renal pelvis and ureter contains transitional cells which display malignant cytologic characteristics. There is no evidence of stromal invasion.|NCI|N|
C0334268|A benign neoplasm that arises from the ciliated respiratory mucosa that lines the nasal cavity and paranasal sinuses. It is classified as inverted papilloma, oncocytic papilloma, and exophytic papilloma. Clinical manifestations include nasal obstruction, epistaxis, and anosmia.|NCI|N|
C0334270|A squamous cell carcinoma of the sinonasal tract characterized by a plexiform or ribbon-like growth pattern, cytological atypia, and lack of histological evidence of keratinization.|NCI|N|
C0334271|A poorly differentiated transitional cell carcinoma characterized by the presence of malignant cells with spindle cell morphologic features.|NCI|N|
C0334273|An anal carcinoma arising from the transitional zone of the anal canal.|NCI|N|
C0334274|A non-invasive or invasive transitional cell carcinoma characterized by a papillary growth pattern. It may occur in the bladder or the renal pelvis.|NCI|N|
C0334276|A lesion in which the normally situated glands are partially or completely replaced by atypical cells with malignant characteristics.|NCI|N|
C0334277|An adenocarcinoma that has spread from its original site of growth to another anatomic site.|NCI|N|
C0334278|An adenocarcinoma which has spread within the mucosa without further invasion of the underlying tissues.|NCI|N|
C0334279|An adenocarcinoma arising from epithelium which has undergone intestinal metaplasia. Representative examples include gastric, gallbladder, and ampulla of Vater intestinal type adenocarcinomas.|NCI|N|
C0334280|An adenocarcinoma characterized by the presence of a diffuse cellular infiltrate which is composed of poorly cohesive cells with minimal or no glandular formations. Representative example is the gastric diffuse adenocarcinoma.|NCI|N|
C0334282|A glucagon-producing neuroendocrine tumor arising from the alpha cells of the pancreas. It may be associated with necrolytic erythema migrans, diarrhea, diabetes, glossitis, weight loss, malabsorption, and anemia. It displays vascular invasion and metastasizes to other anatomic sites.|NCI|N|
C0334283|A gastrin-producing neuroendocrine tumor. It is characterized by inappropriate secretion of gastrin and associated with Zollinger Ellison syndrome. It displays vascular invasion and metastasizes to other anatomic sites.|NCI|N|
C0334285|An epithelial, usually multiloculated neoplasm arising from the intrahepatic or extrahepatic bile ducts. It occurs predominantly in females. Signs and symptoms include abdominal mass, abdominal pain, and jaundice. Morphologically, the cystic spaces are lined by columnar epithelium and contain mucinous or serous fluid.|NCI|N|
C0334286|A mucinous cystic neoplasm that arises from the intrahepatic or extrahepatic bile ducts and it is associated with an invasive carcinomatous component.|NCI|N|
C0334287|A rare variant of hepatocellular carcinoma (HCC) presenting in adolescents or young adults with no underlying liver disease. Clinical presentation is non specific, with abdominal mass, abdominal discomfort or pain, fatigue and weight loss. Patients can also be asymptomatic. HCC markers (alpha fetoprotein) are normal. Fibrolamellar HCC presents as a unique, well-delimited mass at imagery and a biopsy confirms the diagnosis, showing well-differentiated tumor cells surrounded by thick collagen bands.|ORDO|N|
C0334290|A non-invasive adenocarcinoma arising from the neoplastic glandular cells in an adenomatous polyp.|NCI|N|
C0334292|An adenoma arising from the glandular epithelium of the gastrointestinal tract. It is characterized by the presence of a tubular architectural pattern. Most often it occurs in the large intestine, small intestine, and the stomach. The neoplastic epithelial cells show dysplastic features.|NCI|N|
C0334293|Adenocarcinomas developing in colorectal adenomas in patients with a history of adenomatous polyposis coli. The mean age of development of adenocarcinoma is about 40 years.|NCI|N|
C0334294|A condition in which multiple adenomas develop in the gastrointestinal tract.|NCI|N|
C0334295|Adenocarcinomas developing in gastrointestinal tract adenomas in patients with multiple adenomatous polyps.|NCI|N|
C0334296|A carcinoma morphologically characterized by the presence of solid sheets of malignant epithelial cells in tissues.|NCI|N|
C0334297|An undifferentiated malignant epithelial neoplasm which tends to infiltrate the surrounding tissues and spread to other anatomic sites.|NCI|N|
C0334298|A well differentiated, low grade neoplasm with neuroendocrine differentiation that arises from the appendix. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent.|NCI|N|
C0334302|A malignant epithelial neoplasm composed of a mixture of neuroendocrine cells with morphologic and immunohistochemical characteristics of carcinoid tumor and malignant glandular cells.|NCI|N|
C0334303|A benign, well circumscribed lung neoplasm morphologically characterized by the presence of cystic spaces resembling alveoli, lined by a simple cuboidal epithelium. The cystic spaces are surrounded by a spindle cell stroma which may show myxoid changes. It is a solitary, usually peripheral lung lesion. Patients are usually asymptomatic and its discovery is an incidental finding during chest X-ray examination. Surgical excision is curative.|NCI|N|
C0334304|A non-invasive adenocarcinoma arising from a villous adenoma.|NCI|N|
C0334305|A non-invasive or invasive adenocarcinoma arising from a villous adenoma.|NCI|N|
C0334306|An adenocarcinoma characterized by the presence of a villous architectural pattern. It may arise from a villous adenoma.|NCI|N|
C0334307|An adenoma arising from the glandular epithelium of the gastrointestinal tract. It is characterized by the presence of a tubular and a villous architectural pattern. Most often it occurs in the large intestine, small intestine, and the stomach. The neoplastic epithelial cells show dysplastic features.|NCI|N|
C0334308|A non-invasive adenocarcinoma arising from a tubulovillous adenoma.|NCI|N|
C0334309|A non-invasive or invasive adenocarcinoma arising from a tubulovillous adenoma.|NCI|N|
C0334311|A malignant epithelial neoplasm of the anterior pituitary gland in which the neoplastic cells stain positive with acidic dyes.|NCI|N|
C0334312|An epithelial neoplasm of the anterior pituitary gland in which the neoplastic cells stain positive with acidic and basic dyes.|NCI|N|
C0334313|A malignant epithelial neoplasm of the anterior pituitary gland in which the neoplastic cells stain positive with acidic and basic dyes.|NCI|N|
C0334314|A malignant epithelial neoplasm of the anterior pituitary gland in which the neoplastic cells stain positive with basic dyes.|NCI|N|
C0334315|A benign neoplasm composed of glands containing epithelial clear cells.|NCI|N|
C0334317|A benign or borderline neoplasm characterized by the presence of glandular structures which contain clear cells and a fibrotic stroma.|NCI|N|
C0334318|A carcinoma characterized by the presence of malignant epithelial cells with clear cytoplasm which contains neutral lipids. A representative example is the lipid-rich breast carcinoma.|NCI|N|
C0334319|A carcinoma characterized by the presence of malignant epithelial cells with abundant clear cytoplasm which contains glycogen. A representative example is the glycogen-rich, clear cell breast carcinoma.|NCI|N|
C0334320|A parathyroid gland adenoma composed predominantly of neoplastic chief cells. These cells have either slightly eosinophilic or vacuolated cytoplasm, and round nuclei.|NCI|N|
C0334321|A rare parathyroid gland adenoma composed of neoplastic cells with abundant cytoplasm. The cytoplasm of the neoplastic cells is usually not entirely clear, and is often variably vacuolated, foamy, and granular.|NCI|N|
C0334322|An adenocarcinoma characterized by the presence of malignant epithelial cells with clear, often vacuolated or foamy cytoplasm.|NCI|N|
C0334323|An adenoma characterized by the presence of a mixed epithelial cell population.|NCI|N|
C0334324|An adenocarcinoma characterized by the presence of a mixed malignant glandular cell population.|NCI|N|
C0334325|An adenoma in which the neoplastic epithelial cells are admixed with adipose tissue cells.|NCI|N|
C0334327|A morphologic variant of papillary carcinoma of the thyroid gland that predominantly affects children. It is characterized by the presence of a solid growth pattern. The malignant cells have nuclear features that are characteristic of papillary carcinomas of the thyroid gland.|NCI|N|
C0334328|A thyroid gland adenoma composed of microfollicular structures.|NCI|N|
C0334329|A thyroid gland adenoma composed of large size follicles.|NCI|N|
C0334330|A morphologic variant of papillary carcinoma of the thyroid gland that more often affects young patients and commonly metastasizing to the lungs. It is characterized by a diffuse infiltration of the thyroid gland by malignant follicular cells, squamous metaplasia, stromal fibrosis, and lymphocytic infiltration.|NCI|N|
C0334331|A benign, well circumscribed neoplasm arising from the cortex of the kidney. It secrets renin and the patients usually present with severe hypertension and marked hypokalemia. Morphologically, it is characterized by the presence of sheets of polygonal or spindle-shaped neoplastic cells forming a hemangiopericytic pattern.|NCI|N|
C0334332|An adenoma of the adrenal cortex composed of neoplastic compact cells with eosinophilic cytoplasm.|NCI|N|
C0334333|A usually functioning adenoma of the adrenal cortex. Grossly, it has a dark brown appearance and is characterized by the presence of neoplastic cells containing abundant intracytoplasmic lipofuscin. It may be associated with Cushing syndrome.|NCI|N|
C0334334|An adenoma of the adrenal cortex composed of neoplastic clear cells containing intracytoplasmic lipid droplets.|NCI|N|
C0334335|An adenoma of the adrenal cortex composed of neoplastic cells with cytologic features of glomerulosa cells.|NCI|N|
C0334336|An adenoma of the adrenal cortex composed of a mixed neoplastic cellular population, including varying numbers of neoplastic clear and compact cells.|NCI|N|
C0334338|An epithelial neoplasm that arises from the ovary characterized by the presence of glandular or cystic spaces which contain atypical glandular epithelial cells resembling endometrial cells. The surrounding ovarian stroma is often fibrotic. There is no evidence of stromal invasion.|NCI|N|
C0334342|A benign epithelial neoplasm arising from the sebaceous or sweat glands. Representative examples include sebaceous adenoma, tubular apocrine adenoma, and hidradenoma.|NCI|N|
C0334344|A carcinoma with apocrine and less often eccrine differentiation, arising from the sweat glands. It usually presents as a solitary slow growing nodule in the dermis or subcutaneous tissues. It is characterized by a nodular growth pattern and it is often associated with necrotic changes.|NCI|N|
C0334345|A benign dermal adnexal neoplasm with apocrine differentiation. It usually occurs in the scalp and has a female predilection. It presents as an asymptomatic solitary nodule. It is characterized by a lobular architecture. The lobules are composed by tubular structures lined by epithelial cells. There is no cytologic atypia or mitotic figures present.|NCI|N|
C0334346|A carcinoma with apocrine differentiation arising from the sweat glands. It presents as single or multiple nodular lesions which may be ulcerated or hemorrhagic and is usually in the axilla and less often in the anogenital region. It grows in the dermis and infiltrates subcutaneous tissues. It is characterized by the presence of large cells with abundant eosinophilic cytoplasm and large often vesicular nuclei. Most cases are slow growing tumors and have a prolonged course.|NCI|N|
C0334347|A benign epithelial neoplasm with eccrine or apocrine differentiation, arising from the sweat glands. It usually presents as a solitary, well circumscribed, firm nodule in the face and upper trunk. It is characterized by the presence of basaloid cells forming nodules in the dermis. Cases of carcinoma arising from long standing spiradenomas have been reported.|NCI|N|
C0334348|A benign neoplasm arising from the sweat glands. It presents as a slow growing cystic nodular lesion most often in the skin of the vulva and the perianal region. It is characterized by the presence of cystic and large papillary structures. The papillary structures contain connective tissue and are covered by two layers of epithelium. Complete excision is curative.|NCI|N|
C0334350|A benign neoplasm arising from the sweat glands. It is characterized by the presence of eccrine ducts in the dermis containing intraluminal papillary projections.|NCI|N|
C0334352|A tumor (abnormal growth of tissue) of the ceruminal gland.|HPO|N|
C0334353|An infiltrating adenocarcinoma derived from ceruminous glands in the external auditory canal.|NCI|N|
C0334355|A serous cystic glandular epithelial neoplasm of low malignant potential. It is characterized by the presence of atypical or malignant glandular epithelial cells with an absence of stromal invasion.|NCI|N|
C0334356|A serous or mucinous cystic glandular epithelial neoplasm of low malignant potential. It is characterized by the presence of atypical or malignant glandular epithelial cells forming papillary structures with an absence of stromal invasion.|NCI|N|
C0334357|A benign, malignant, or borderline epithelial neoplasm characterized by the presence of papillary mucinous, serous, or clear cell structures and cystic structures.|NCI|N|
C0334358|A serous benign or low malignant potential cystic epithelial neoplasm characterized by the presence of glandular epithelial cells forming papillary structures.|NCI|N|
C0334360|A non-invasive papillary serous epithelial neoplasm usually arising from the ovary.|NCI|N|
C0334361|An invasive serous adenocarcinoma arising from the ovary and rarely the peritoneum. Morphologically, it may be a well, moderately, or poorly differentiated neoplasm. It is characterized by a papillary growth pattern often associated with the presence of psammoma bodies.|NCI|N|
C0334362|A low malignant potential cystic serous epithelial neoplasm arising from the ovary. Cases with identical morphology have been described arising from the peritoneum as well. It is characterized by an atypical epithelial proliferation and a papillary growth pattern. There is no evidence of destructive stromal invasion.|NCI|N|
C0334363|A usually benign and less often low malignant potential cystic epithelial neoplasm composed of cells which contain intracytoplasmic mucin. It is characterized by the presence of papillary structures.|NCI|N|
C0334364|An invasive adenocarcinoma characterized by cystic changes, papillary growth pattern, and the presence of malignant glandular cells which contain intracytoplasmic mucin.|NCI|N|
C0334366|A low malignant potential cystic epithelial neoplasm usually arising from the ovary. It is composed of glandular cells with intracytoplasmic mucin. It is characterized by an atypical epithelial proliferation and a papillary growth pattern. There is no evidence of destructive stromal invasion.|NCI|N|
C0334368|A carcinoma that produces mucin.|NCI|N|
C0334370|A high grade carcinoma characterized by the presence of comedo-type tumor cell necrosis in which the necrotic areas are surrounded by a solid proliferation of malignant pleomorphic cells.|NCI|N|
C0334371|A rare, low grade invasive adenocarcinoma of the breast characterized by the presence of cells that secrete milk-like material. Morphologically, it usually appears as a circumscribed lesion, composed of cystic spaces, tubular structures, and solid areas.|NCI|N|
C0334372|Breast ductal carcinoma in situ characterized by the presence of filiform arborizing fibrovascular cores lined by neoplastic ductal epithelium. (WHO 2019)|NCI|N|
C0334373|A breast adenocarcinoma characterized by the presence of intraductal and invasive papillary carcinomatous components.|NCI|N|
C0334374|A papillary epithelial neoplasm arising in a cystically dilated breast duct.|MONDO|N|
C0334376|An intraductal breast carcinoma characterized by a papillary growth within a large cystic duct. There is no evidence of invasion of the breast parenchyma.|NCI|N|
C0334377|A neoplastic process characterized by the presence of multiple intraductal papillomas.|NCI|N|
C0334378|A benign epithelial neoplasm arising from the nipple. Signs and symptoms include serous or sanguineous nipple discharge and nipple erosion. It is characterized by the presence of aggregates of small tubules replacing the nipple stroma. The tubules are lined by epithelial and myoepithelial cells.|NCI|N|
C0334379|A medullary thyroid gland carcinoma characterized by the presence of amyloid stroma. The majority of medullary carcinomas of the thyroid gland are associated with amyloid deposits. The latter are highlighted with Congo red staining method.|NCI|N|
C0334383|The co-existence of ductal and lobular carcinoma in situ in the breast, without evidence of stromal invasion.|NCI|N|
C0334384|An invasive ductal breast carcinoma associated with an in situ lobular carcinomatous component.|NCI|N|
C0334386|Paget disease involving the skin overlying the mammary gland, accompanied by invasive ductal breast carcinoma.|NCI|N|
C0334389|A benign glandular epithelial neoplasm consisting of secretory cells forming acinar patterns.|NCI|N|
C0334390|A benign or malignant glandular epithelial neoplasm consisting of secretory cells forming acinar patterns. It includes the acinar cell adenoma and acinar cell carcinoma.|NCI|N|
C0334392|A malignant neoplasm which occurs mostly in the major salivary glands (most frequently in the parotid gland), but also in the minor salivary glands of the oral mucosa and the tracheobronchial tree. It is characterized by the presence of ductal structures which are lined by an inner layer of cuboidal epithelial-type cells and an outer layer of myoepithelial cells with clear or eosinophilic cytoplasm.|NCI|N|
C0334393|An invasive adenocarcinoma characterized by the presence of focal or extensive transformation of malignant glandular cells to squamous epithelial cells.|NCI|N|
C0334394|An invasive adenocarcinoma characterized by focal or extensive cartilage and/or bone formation.|NCI|N|
C0334395|An invasive adenocarcinoma characterized by focal or extensive transformation of the malignant glandular cells to spindle-shaped cells.|NCI|N|
C0334396|An invasive adenocarcinoma characterized by focal or extensive transformation of the malignant glandular cells to cells with abundant, usually granular eosinophilic cytoplasm.|NCI|N|
C0334398|A thecoma of the ovary which may metastasize to another anatomic site. It is usually characterized by nuclear atypia and mitotic activity. Malignant thecomas are rare.|NCI|N|
C0334399|A variant of ovarian thecoma characterized by the presence of lutein cells. It is associated with a lower frequency of estrogenic manifestations compared to typical thecomas. In a minority of cases androgenic manifestations are present.|NCI|N|
C0334401|A granulosa cell tumor which has an aggressive clinical course and metastasizes to other anatomic sites.|NCI|N|
C0334402|A general term used to describe sex cord-stromal tumors characterized by the presence of granulosa cells in a thecomatous/fibrothecomatous background.|NCI|N|
C0334403|A sex cord-stromal tumor occurring in the ovary and testis. In females it occurs predominantly in the first three decades of life and presents unilaterally as stage I disease in the vast majority of cases. It is characterized by the presence of granulosa cells forming macrofollicular structures. The majority of cases have a good prognosis. In males it represents the most frequent congenital testicular neoplasm, and the vast majority of cases occur in the perinatal period. It presents as a scrotal or abdominal mass, and it more often affects the left testis. Approximately 20% of the patients have ambiguous external genitalia. It is characterized by the presence of cystic spaces lined by granulosa cells and cells resembling theca cells. Metastases have not been reported.|NCI|N|
C0334405|A Sertoli-Leydig tumor of the ovary characterized by the presence of Sertoli cells in tubules without evidence of significant nuclear atypia or mitotic activity. Primitive gonadal stromal cells are not present. It usually follows a benign clinical course.|NCI|N|
C0334406|A Sertoli cell tumor that arises from the testis or the ovary. It is characterized by nuclear pleomorphism, increased mitotic activity and necrotic changes. Metastases may be present at diagnosis.|NCI|N|
C0334409|A Leydig cell tumor which does not recur or metastasize. Morphologically, there is no evidence of cellular atypia, increased mitotic activity, necrosis, or vascular invasion.|NCI|N|
C0334410|A Leydig cell tumor characterized by large tumor size, the presence of cytologic atypia, increased mitotic activity, necrosis, and vascular invasion. Approximately 10% of the testicular Leydig cell tumors show malignant characteristics and metastasize. Leydig cell tumors of the ovary follow a benign clinical course.|NCI|N|
C0334412|An ovarian tumor in which the vast majority of the cells (more than 90% of the tumor cells) resemble steroid hormone-secreting cells. It usually presents with androgenic manifestations. Approximately one-third of the cases follow a malignant clinical course.|NCI|N|
C0334415|A paraganglioma arising from the chromaffin cells of the paraganglia that are located along the sympathetic nerves. It includes extra-adrenal paragangliomas and paragangliomas that arise from the adrenal medulla. The latter are commonly referred to as pheochromocytomas. Representative examples of extra-adrenal sympathetic paragangliomas include the bladder, and superior and inferior paraaortic paragangliomas. Clinical signs are related to the secretion of catecholamines resulting in hypertension.|NCI|N|
C0334416|An extra-adrenal paraganglioma that arises from paraganglia located along the parasympathetic nerves. Representative examples include aorticopulmonary, carotid body, jugulotympanic, and mediastinal paragangliomas.|NCI|N|
C0334417|An extra-adrenal parasympathetic paraganglioma that arises from paraganglia adjacent to the base of the heart and great vessels.|NCI|N|
C0334418|An extra-adrenal paraganglioma that metastasizes to regional or distant anatomic sites. Common sites of metastasis include the lymph nodes, lungs, bones, and liver.|NCI|N|
C0334419|A pheochromocytoma that metastasizes to other anatomic sites. Common sites of metastasis include lymph nodes, bones, liver, and lung. Morphologic features associated with malignant pheochromocytomas include: atypical mitotic figures, capsular and vascular invasion, tumor cell necrosis, and high mitotic activity.|NCI|N|
C0334421|A morphologic variant of the glomus tumor characterized by the presence of dilated veins, surrounded by small clusters of glomus cells. Glomangiomas are most often present in patients with multiple lesions.|NCI|N|
C0334422|A morphologic variant of the glomus tumor with architectural features similar to solid glomus tumor. It is characterized by the presence of elongated glomus cells which resemble mature smooth muscle.|NCI|N|
C0334424|A type of melanoma that starts as a raised area that is usually dark blackish-blue or bluish-red but may not have any color.|HPO|N|
C0334425|An uncommon variant of melanocytic nevus. It presents as a small pigmented skin lesion. It is characterized by the presence of large melanocytes with clear, foamy or finely vacuolated cytoplasm. It may recur if it is not completely excised.|NCI|N|
C0334426|A rare variant of melanoma with a vertical growth phase. It presents as a nodular or polypoid skin lesion. It is characterized by the presence of nodules which contain large melanoma cells with clear, foamy or finely vacuolated cytoplasm. The prognosis is similar to that of other melanomas matched for depth of invasion.|NCI|N|
C0334427|A skin lesion characterized by the disappearance of the melanoma cells from the primary melanoma site. The disappearance of the malignant cells is associated with fibroplasia of the papillary dermis. According to some authors, complete regression of the primary melanoma may occur in 4-8% of patients.|NCI|N|
C0334430|An intradermal nevus characterized by the presence of nests of atrophic nevus cells which are hyalinized and resemble nerve bundles.|NCI|N|
C0334432|A benign nevus characterized by the absence of melanin pigment in the melanocytes.|NCI|N|
C0334433|A nevus characterized by the presence of an intraepidermal proliferation of nevus cells. The nevus cells form multiple nests in the dermal-epidermal junction. It presents as a small, slightly raised, pigmented skin lesion.|NCI|N|
C0334434|A melanoma arising from a melanocytic nevus which involves the dermal-epidermal junction of the skin.|NCI|N|
C0334438|A type of melanoma that is flat and irregular in shape and color, with different shades of black and brown.|HPO|N|
C0334441|A melanoma arising in a giant congenital melanocytic nevus. The risk of developing a melanoma in a giant congenital melanocytic nevus has been reported to be between 5% and 50%. The incidence of developing melanoma is higher before the age of 10 and in adult life.|NCI|N|
C0334442|A melanoma characterized by the presence of malignant large epithelioid melanocytes and malignant spindle-shaped melanocytes.|NCI|N|
C0334443|A melanoma characterized by the presence of malignant large epithelioid melanocytes.|NCI|N|
C0334444|A melanoma characterized by the presence of malignant spindle-shaped melanocytes.|NCI|N|
C0334445|A melanoma characterized by the presence of malignant spindle-shaped melanocytes with slender nuclei and no visible nucleoli. Representative example is the type A spindle cell uveal melanoma.|NCI|N|
C0334446|A melanoma characterized by the presence of malignant spindle-shaped melanocytes with larger nuclei and distinct nucleoli. Representative example is the type B spindle cell uveal melanoma.|NCI|N|
C0334447|A rare melanoma which develops in a pre-existing blue nevus. It occurs more frequently on the scalp, face, orbit, back, buttocks, extremities, hands, and feet.|NCI|N|
C0334448|A blue nevus characterized by a multinodular cellular infiltrate with a dumb-bell architecture occupying the reticular dermis. The cellular infiltrate often extends into the subcutaneous tissue. The cellular infiltrate is composed of spindle-shaped melanocytes with pale cytoplasm alternating with bundles of pigmented spindle-shaped melanocytes. In occasional cases an increased mitotic activity, focal necrosis, and nuclear pleomorphism may be seen. Such cases with atypical features may have an uncertain malignant potential.|NCI|N|
C0334450|A neoplasm that arises from soft tissue and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C0334451|The occurrence of several sarcomas in different anatomic locations.|NCI|N|
C0334454|A morphologic variant of dermatofibrosarcoma protuberans characterized by the presence of extensive myxoid stroma formation and a storiform growth pattern.|NCI|N|
C0334455|A benign fibrous neoplasm arising from the periosteal connective tissue that surrounds a bone.|NCI|N|
C0334456|A malignant fibroblastic tumor arising from the periosteal connective tissue that surrounds a bone.|NCI|N|
C0334457|A benign fibrous tumor arising from the fascial connective tissue.|NCI|N|
C0334458|A malignant fibroblastic neoplasm arising from the fascial connective tissue.|NCI|N|
C0334459|A fibrosarcoma that occurs in infants. It shares identical morphologic features with adult fibrosarcoma but carries the t(12;15)(p13;q25) translocation that results in ETV6-NTRK3 gene fusion. It usually affects the superficial and deep soft tissues of the extremities. The prognosis is generally much more favorable than for adult fibrosarcoma, and it rarely metastasizes.|NCI|N|
C0334460|Elastofibroma dorsi is a rare, acquired, dermis elastic tissue disorder characterized by a benign, slowly progressive, often bilateral, non-encapsulated lesion, usually presenting as an ill-defined mass under the inferior angle of the scapula (but other locations have been reported), which adheres to the deep layers and presents no local signs of inflammation. It is commonly asymptomatic and discovered inadvertently, but symptoms may include pain and discomfort or stiffness when using the shoulder. The presence of a firm mass masked by the scapula during retropulsion of the shoulder and becoming prominent when the shoulder is displaced toward the front is a frequent sign. Neuromuscular involvement of the upper limb may occur in rare cases.|ORDO|N|
C0334463|An aggressive sarcoma of soft tissues or bone that can arise from any part of the body, clinically presenting as swelling, mass, pain, pathological fracture and occasional systemic features and is characterized by high local recurrence and significant metastasis.|ORDO|N|
C0334464|A morphologic variant of dermatofibrosarcoma protuberans characterized by the presence of melanin-pigmented dendritic cells.|NCI|N|
C0334467|A benign well-circumscribed tumor composed of mature adipocytes, characterized by areas of abundant fibrous tissue.|NCI|N|
C0334469|An atypical lipomatous tumor/well differentiated liposarcoma characterized by the presence of bizarre hyperchromatic stromal cells and rare multivacuolated lipoblasts within a fibrous stroma.|NCI|N|
C0334470|A benign well-circumscribed tumor composed of mature adipocytes, characterized by areas of abundant fibrous tissue and extensive myxoid change.|NCI|N|
C0334471|A poorly differentiated liposarcoma, characterized by the presence of solid sheets of primitive round mesenchymal cells and the absence of myxoid stroma.|NCI|N|
C0334472|A malignant neoplasm characterized by the presence of a combination of liposarcomatous morphologic subtypes: myxoid/round cell and well differentiated/dedifferentiated liposarcoma or myxoid/round cell and pleomorphic liposarcoma.|NCI|N|
C0334473|A lipoma that is located within a muscle.|HPO|N|
C0334474|A benign circumscribed tumor composed of spindled cells, adipocytes, and collagen bundles. There is no evidence of nuclear hyperchromasia or mitotic activity.|NCI|N|
C0334475|A neoplastic process characterized by the presence of multiple lipoblastomas.|NCI|N|
C0334477|A morphologic variant of classic leiomyoma characterized by a dense cellular infiltrate composed of spindle or round cells with scant cytoplasm and a less obvious interlacing fascicle pattern.|NCI|N|
C0334478|A morphologic variant of leiomyoma characterized by the presence of pleomorphic muscle cells with bizarre hyperchromatic nuclei and eosinophilic cytoplasm.|NCI|N|
C0334479|A malignant smooth muscle neoplasm characterized by the presence of atypical spindle cells and formation of vascular channels.|NCI|N|
C0334480|A rare soft tissue sarcoma characterized by a high-grade lesion occurring almost exclusively in adults, composed of bizarre polygonal, round, and spindle cells with evidence of skeletal muscle differentiation. Patients usually present with a rapidly growing, painful mass located in the deep soft tissues of the extremities, but also other anatomic regions. Prognosis is generally poor.|ORDO|N|
C0334482|A rare benign mesenchymal neoplasm arising from skeletal muscle. It is characterized by the presence of immature spindle and polygonal cells within a scant myxoid stroma. It usually develops in the head and neck region of young children.|NCI|N|
C0334485|A non-infiltrating, benign mesenchymal neoplasm arising from the uterine corpus. It is characterized by the presence of neoplastic cells that resemble the cells of the proliferative phase of endometrial stroma and numerous thin-walled small vessels. It usually presents with abnormal uterine bleeding and menorrhagia.|NCI|N|
C0334486|An infiltrating mesenchymal tumor arising from the uterine corpus, cervix, vagina, and the ovary. It is characterized by the presence of oval to spindle-shape cells that resemble the cells of the endometrial stroma, without evidence of significant atypia and pleomorphism. Numerous small vessels are also present. It is usually characterized by indolent growth and late recurrences.|NCI|N|
C0334488|Clear cell sarcoma of kidney is a rare, primary, genetic renal tumor usually characterized by a unilateral, unicentric, morphologically diverse tumor that arises from the renal medulla and has a tendency for vascular invasion. Clinically it presents with a palpable abdominal mass, abdominal or flank pain, hematuria, anemia and/or fatigue. Metastatic spread to lymph nodes, bones, lungs, retroperitoneum, brain and liver is common at time of diagnosis and therefore bone pain, cough or neurological compromise may be associated. Metastasis to unusual sites, such as the scalp, neck, nasopharynx, axilla, orbits and epidural space, have been reported.|ORDO|N|
C0334489|A rare pediatric carcinoma of the pancreas.|HPO|N|
C0334491|A term describing a benign soft tissue tumor which consists of two or more mesenchymal lines of differentiation, excluding a fibroblastic line of differentiation.|NCI|N|
C0334492|A term describing a malignant soft tissue tumor which consists of two or more mesenchymal lines of differentiation, excluding a fibroblastic line of differentiation.|NCI|N|
C0334494|A neoplasm of low malignant potential arising from the ovary. It is characterized by the presence of neoplastic atypical urothelial-type cells in a fibrotic stroma without evidence of invasion.|NCI|N|
C0334495|A malignant neoplasm that arises from the ovary. It is characterized by the presence of an invasive malignant urothelial-type cellular component and nests of benign urothelial-type cells in a fibrotic stroma. When the neoplasm is confined to the ovary, the prognosis is good.|NCI|N|
C0334496|A morphologic variant of breast fibroadenoma without clinical significance. It is characterized by distortion and compression of the ducts by proliferating stromal cells.|NCI|N|
C0334497|A morphologic variant of breast fibroadenoma without clinical significance. It is characterized by circumferential proliferation of stromal cells around the ducts. This results in the formation of rounded ductal-epithelial structures.|NCI|N|
C0334498|A benign or borderline adenofibroma characterized by the presence of serous secretory cells and minute cystic spaces filled with watery fluid. A representative example is the ovarian serous adenofibroma.|NCI|N|
C0334499|A benign or borderline adenofibroma characterized by the presence of epithelial cells which contain intracytoplasmic mucin and a fibrotic stroma. A representative example is the ovarian mucinous adenofibroma.|NCI|N|
C0334501|A benign, circumscribed fibroepithelial neoplasm arising from the breast and rarely the prostate gland. It is characterized by the presence of epithelial structures which are arranged in clefts and by a hypercellular mesenchymal stroma which is organized in leaf-like structures. There is no evidence of cellular atypia or sarcomatous features.|NCI|N|
C0334505|A synovial sarcoma characterized by the presence of a spindle cell component only.|NCI|N|
C0334506|A synovial sarcoma characterized by the presence of an epithelial cell component only. The epithelial cells are arranged in glandular or papillary structures.|NCI|N|
C0334507|A synovial sarcoma characterized by the presence of both an epithelial and a spindle cell component.|NCI|N|
C0334511|A localized neoplasm of probable fibroblastic derivation, that arises from the pleura. It is characterized by the presence of round to spindle-shaped cells, hylanized stroma formation, thin-walled branching blood vessels, and thin bands of collagen.|NCI|N|
C0334513|A malignant neoplasm arising from mesothelial cells. It is characterized by the presence of spindle cells. Anaplastic morphologic features and multinucleated malignant cells may also be seen.|NCI|N|
C0334515|A malignant mesothelioma characterized by the presence of epithelioid and sarcomatoid components, with each component representing at least 10% of the tumor.|NCI|N|
C0334516|A seminoma of the testis characterized by increased cellular pleomorphism, high mitotic activity, and a non-prominent stromal lymphocytic infiltrate.|NCI|N|
C0334517|Spermatocytic seminoma (SS) is an extremely rare form of testicular cancer distinguished from testicular seminomatous germ cell tumors (see this term) by a very low rate of metastasis and lack of an ovarian equivalent.|ORDO|N|
C0334518|A rare malignant germ cell tumor characterized by predominant composition of embryoid bodies consisting of a central core of embryonal carcinoma cells, an amnion-like cavity, and a yolk sac tumor component. The tumor usually occurs as the dominant component of a mixed germ cell tumor, with teratoma being the most common associated element. It may manifest as an abdominal mass or with abdominal pain, menstrual irregularities, or precocious puberty in women, while men typically present with testicular enlargement. Serum alpha-fetoprotein and/or beta-human chorionic gonadotropin can be elevated.|ORDO|N|
C0334520|A teratoma characterized by the presence of an extensive component of immature, fetal-type tissues.|NCI|N|
C0334522|An immature teratoma characterized by the presence of an intermediate amount of undifferentiated tissues.|NCI|N|
C0334523|A teratoma which is characterized by morphologic transformation to malignancy and an aggressive clinical course. The malignant component most often is sarcomatous or carcinomatous.|NCI|N|
C0334524|A rare germ cell tumor characterized by composition of two or more malignant germ cell components, the most common combination being dysgerminoma and yolk sac tumor. The tumors typically occur between childhood and young adulthood. They are usually located in the gonads, occasionally also in other regions. Clinical presentation corresponds to the individual germ cell components and the tumor location; manifestations may include abdominal pain, abdominal mass, and menstrual disorder in females, and a testicular mass in males. The most important prognostic factor is tumor stage.|ORDO|N|
C0334525|A carcinoma with histological features identical to thyroid carcinoma, arising in ovarian mature teratoma with aberrant thyroid tissue (struma ovarii).|NCI|N|
C0334526|An ovarian neoplasm characterized by the presence of aberrant thyroid tissue and a carcinoid tumor. A minority of patients develop symptoms of functioning thyroid tissue. The neuroendocrine carcinoid cells infiltrate the aberrant thyroid tissue and progressively replace the follicular lining cells.|NCI|N|
C0334527|A malignant mixed germ cell tumor characterized by the presence of a choriocarcinomatous component admixed with another germ cell component (e.g. embryonal carcinoma, teratoma, or seminoma).|NCI|N|
C0334528|A malignant germ cell tumor which metastasizes widely and produces high levels of human chorionic gonadotropin.|NCI|N|
C0334529|A form of hydatiform mole characterized by abnormal hyperplastic trophoblasts and hydropic villi due to fertilization of a normal ovocyte by two spermatozoa or one abnormal spermatozoon (allowing for some fetal development), and that manifests with vaginal bleeding accompanied by nausea and frequent vomiting, hyperemesis gravidarum, hyperthyroidism and risk of spontaneous miscarriage.|ORDO|N|
C0334530|A benign epithelial neoplasm of the female reproductive system arising from mesonephric remnants.|MONDO|N|
C0334531|An epithelial neoplasm of the female reproductive system arising from mesonephric remnants.|MONDO|N|
C0334532|A hemangioma composed of veins.|NCI|N|
C0334533|A benign vascular lesion characterized by the presence of a complex network of communicating arterial and venous vascular structures.|NCI|N|
C0334536|A benign vascular proliferation characterized by the presence of prominent endothelial cells and the formation of vascular channels.|NCI|N|
C0334538|A rare vascular tumor characterized by a solitary lesion in the superficial or deep soft tissue of the extremities, most often originating from a small vein as a fusiform intravascular mass also infiltrating surrounding tissues. It is composed of epithelioid endothelial cells arranged in short cords and nests in a myxohyaline stroma. Patients present with an often painful nodule which may be associated with edema or thrombophlebitis. In classic epithelioid hemangioendothelioma lacking atypical histological features metastatic rate and mortality are low.|ORDO|N|
C0334540|A rare vascular anomaly characterized by congenital, solitary or grouped, red-to-purple plaques which may bleed and enlarge over time. The lesions show a predilection for the lower extremities. Histological examination reveals numerous dilated, congested capillaries and venules in the papillary dermis, often with a deep dermal component, and with increased density of variably congested capillaries and venules also in the subcutaneous tissue. The overlying epidermis displays prominent acanthosis, papillomatosis, hyperkeratosis, parakeratosis, and crusting.|ORDO|N|
C0334542|An uncommon malignant neoplasm arising from pericytes. Distinction between benign and malignant hemangiopericytoma may be difficult or even impossible on morphologic grounds alone.|NCI|N|
C0334543|A lymphangioma that involves the capillary.|MONDO|N|
C0334544|A hemorrhagic lymphatic lesion characterized by the presence of dilated lymphatic spaces, extravasation of red blood cells, hemosiderin deposition, and fibrosis.|NCI|N|
C0334546|A sarcomatous transformation of pre-existing Paget disease of the bone. Osteosarcomas arising from Paget disease of the bone are high grade lesions and usually have a poor prognosis.|NCI|N|
C0334547|An osteoblastoma characterized by the presence of prominent epithelioid osteoblasts and recurrences.|NCI|N|
C0334548|A benign neoplasm of bone surface composed of hyaline cartilage. It arises beneath the periosteum and is characterized by the presence of chondrocytes, a lobulated growth pattern, and calcification.|NCI|N|
C0334549|A chondrosarcoma arising from the surface of bone. It is characterized by a lobulated growth pattern, high mitotic activity, myxoid stroma formation, and necrotic changes. It occurs in adults. Clinical presentation includes pain, and sometimes swelling.|NCI|N|
C0334550|A rare chondroblastoma that has metastasized to another anatomic site.|NCI|N|
C0334551|A chondrosarcoma characterized by the presence of myxoid changes.|MONDO|N|
C0334552|A malignant tumor that arises from the bone. It is characterized by the presence of an area of high grade sarcoma in an otherwise typical giant cell tumor (primary malignancy in giant cell tumor), or the presence of sarcoma in which the pre-existing giant cell tumor may or may not be apparent (secondary malignancy in giant cell tumor).|NCI|N|
C0334553|A painless, well circumscribed tumor arising in soft tissue, usually of the upper and lower extremities. Morphologically, it is characterized by a multinodular growth pattern. The cellular infiltrate is composed of mononuclear round or oval cells and multinucleated osteoclast-like giant cells, in a rich vascular stroma. It rarely metastasizes.|NCI|N|
C0334554|An undifferentiated pleomorphic sarcoma characterized by the presence of osteoclast-like giant cells and cellular pleomorphism.|NCI|N|
C0334556|A primary low-grade, malignant bone tumor that is predominantly located in the mid-portion of the tibia. Histologically, classic adamantinoma is a biphasic tumor characterized by epithelial and osteofibrous components that may be intermingled with each other in various proportions and differentiating patterns.|HPO|N|
C0334557|A benign, slow growing neoplasm arising from tooth-forming tissues. It occurs in the maxillofacial skeleton or the gingiva. Representative examples include adenomatoid odontogenic tumor, calcifying cystic odontogenic tumor, and squamous odontogenic tumor.|NCI|N|
C0334558|A rare neoplasm arising from tooth-forming tissues. It occurs in the maxillofacial skeleton or the gingiva. Symptoms include swelling, pain, bleeding, mobility of affected teeth, and oral mucosa ulcerations. It may metastasize to lymph nodes and distant anatomic sites early.|NCI|N|
C0334563|A benign, slow growing, and painless hamartomatous tumor occurring in tooth-bearing areas of the jaws. It is one of the most common odontogenic tumors and it usually affects children, adolescents, and young adults. It is characterized by the presence of enamel and dentin and the absence of tooth-like structures. It is treated with local excision. If it is incompletely removed, it may recur.|NCI|N|
C0334564|An odontogenic sarcoma producing enamel/enameloid and dentin.|NCI|N|
C0334565|A benign, slow growing neoplasm arising from tooth-forming tissues. The vast majority of cases are intraosseous and most often grow in the maxilla. It is characterized by the presence of odontogenic epithelium which is embedded in a connective tissue stroma. Local excision is curative and recurrences are very rare.|NCI|N|
C0334566|A carcinoma usually arising from the maxilla and less often the mandible. Symptoms include swelling and paresthesia. It is characterized by the presence of rounded islands of malignant epithelial cells in a fibrous stroma and the benign features of calcifying cystic odontogenic tumor. The clinical course varies from slow growing and locally invasive to rapidly growing and highly aggressive with metastases.|NCI|N|
C0334567|A rare, well differentiated, cytologically benign ameloblastoma which paradoxically metastasizes.|NCI|N|
C0334569|An intraosseous odontogenic neoplasm with good prognosis, arising from the mandible and less frequently from the maxilla. It is characterized by the presence of stellate cells and abundant myxoid stroma formation. Small tumors may be cured with enucleation. Complete excision may be required for larger tumors.|NCI|N|
C0334571|A rare, benign, extraosseous neoplasm arising from tooth-forming tissues. It usually presents as a slow growing exophytic mass in the gingiva. It is characterized by the presence of odontogenic epithelium which is embedded in a fibrous stroma.|NCI|N|
C0334572|A rare neoplasm arising from tooth-forming tissues. It usually arises from the posterior mandible. It is characterized by the presence of an epithelial component and fibromyxoid stroma. It may recur and rarely shows malignant transformation to ameloblastic fibrosarcoma. It is treated with enucleation and curettage.|NCI|N|
C0334573|A locally aggressive malignant neoplasm arising from odontogenic tissue. It occurs in the mandible and less often in the maxilla. It is characterized by the presence of a malignant connective tissue component and a benign epithelial component. The frequency of distal metastases is low.|NCI|N|
C0334574|A slow growing, locally invasive neoplasm arising from tooth-forming tissues. It most often grows intraosseously in the mandible and less frequently in the maxilla. In a minority of cases it grows extraosseously in the gingiva. It is characterized by the presence of a fibrous stroma, epithelial cells with abundant eosinophilic cytoplasm, and amyloid material which is often calcified. Small tumors may be successfully treated with enucleation. Local resection is usually required for larger tumors. Recurrences have been reported in a minority of cases.|NCI|N|
C0334576|A rare glial tumor characterized by extensive infiltration of the brain, often extending to infratentorial structures and even the spinal cord. The tumor corresponds to WHO grade III and is composed of elongated glial cells typically resembling astrocytes. Cases in which the predominant cell type is oligodendroglial have also been described. Some tumors develop a circumscribed neoplastic mass in addition to the diffuse lesion, usually showing features of high-grade glioma. Clinical symptoms include dementia, headache, seizures, signs of increased intracranial pressure, and a variety of neurological deficits. Prognosis is generally poor.|ORDO|N|
C0334578|A rare variant of ependymoma characterized by well formed papillae. Tumor cell processes abutting capillaries are usually GFAP-positive. Differential diagnoses include choroid plexus papilloma, papillary meningioma and metastatic papillary carcinoma. (Adapted from WHO)|NCI|N|
C0334579|A rare, high-grade, malignant glial tumor, histologically characterized by abundance of pleomorphic astrocytes and multiple mitotic figures, often associated with diffuse infiltration of the surrounding tissue, considerable edema and mass effect and involvement of the contralateral brain. Depending on the primary localization of the tumor, patients can present with signs of raised intracranial pressure (headache, vomiting, papilledema), seizures, progressive neurological deficits, and/or behavioral changes. The tumor is most commonly localized in the frontal and temporal lobes, brain stem and spinal cord.|ORDO|N|
C0334580|A rare variant of diffuse astrocytoma. It is predominantly composed of neoplastic astrocytes showing a small cell body with few, flaccid processes with a low content of glial filaments and scant GFAP expression. This lesion is not well defined and is considered by some authors as an occasional histopathological feature rather than a reproducibly identifiable variant. When occurring in children, this neoplasm may be difficult to separate from pilocytic juvenile astrocytoma. (Adapted from WHO)|NCI|N|
C0334581|A rare variant of diffuse astrocytoma. It is characterized by the presence of a conspicuous, though variable, fraction of gemistocytic neoplastic astrocytes. Gemistocytes are round to oval astrocytes with abundant, glassy, non-fibrillary cytoplasm which appears to displace the dark, angulated nucleus to the periphery of the cell. To make the diagnosis of gemistocytic astrocytoma, gemistocytes should amount to more than approximately 20% of all tumor cells. (Adapted from WHO)|NCI|N|
C0334582|The most frequent histological variant of diffuse astrocytoma. It is predominantly composed of fibrillary neoplastic astrocytes. Nuclear atypia is a diagnostic criterion but mitotic activity, necrosis and microvascular proliferation are absent. The occasional or regional occurrence of gemistocytic neoplastic cells is compatible with the diagnosis of fibrillary astrocytoma. (WHO)|NCI|N|
C0334583|The most common form of astrocytoma (WHO Grade I) in childhood. These typically have MAPK signaling pathway abnormalities.|HPO|N|
C0334586|Pleomorphic xanthoastrocytomas (PXA) are rare low-grade astrocytomas (WHO Grade II) typically found in the temporal lobe and classically presenting with epilepsy. PXA is an astrocytic neoplasm that most often presents in children or young adults but can also occur in adults. The diagnosis of anaplastic PXA is made based upon tumor histopathologic characteristics and requires increased proliferative activity (mitotic index at least 5 mitoses/10 HPF), which is associated with worse overall survival. In general, anaplastic PXAs acquire features of a more aggressive astrocytic neoplasm that can include increased proliferation, necrosis, microvascular proliferation, loss of pericellular reticulin, and increased infiltrative growth.|HPO|N|
C0334587|A very rare glial neoplasm of the central nervous system, most often with an intra-axial peripheral supratentorial location in one hemisphere of the frontal or parietal lobes and usually presenting in infants and young adults with symptoms of vomiting, loss of consciousness, epileptic seizures and headaches.|ORDO|N|
C0334588|A rare histological variant of glioblastoma with a predominance of bizarre, multinucleated giant cells, an occasionally abundant stromal reticulin network, and a high frequency of TP53 mutations. (WHO)|NCI|N|
C0334590|A rare glial tumor characterized by a grade III oligodendroglial tumour with focal or diffuse anaplastic features. It typically occurs in the supratentorial white matter. Histologically, the cells are enlarged and epithelioid with pleomorphic and increased size nuclei, a vesicular chromatin pattern and prominent nucleoli. Most patients present with seizures.|ORDO|N|
C0334592|An obsolete term referring to desmoplastic medulloblastoma.|NCI|N|
C0334595|Hyperplastic submucosal and myenteric plexus containing an increased number of ganglion cells, glial cells and nerve fibers.|HPO|N|
C0334596|A rare, unilateral, benign or malignant embryonic neoplasm typically presenting as a cilliary body mass during childhood. It is composed of medullary epithelial cells.|NCI|N|
C0334598|A neuroectodermal tumor composed of neoplastic neural elements.|NCI|N|
C0334599|A neurofibroma characterized by the presence of structures which resemble Vater-Pacini corpuscles.|NCI|N|
C0334600|A retinoblastoma with well differentiated features. It often produces Flexner-Wintersteiner rosettes or Homer-Wright rosettes. In some cases the tumor cells form fleurettes.|NCI|N|
C0334601|A retinoblastoma composed of small, undifferentiated cells. It is often associated with necrotic changes.|NCI|N|
C0334602|A rare, benign (olfactory neurocytoma) or malignant (olfactory neuroblastoma) neuroectodermal tumor originating from olfactory receptor cells in the nasal cavity.|NCI|N|
C0334605|A WHO grade I meningioma characterized by the presence of tumor cells that form lobules. The tumor cells are generally uniform. Whorls and psammoma bodies are usually not present.|NCI|N|
C0334606|A WHO grade I meningioma characterized by the presence of spindle cells that form bundles in a collagen matrix.|NCI|N|
C0334607|A WHO grade I meningioma characterized by the presence of psammoma bodies that predominate over the meningeal cells.|NCI|N|
C0334608|A WHO grade I meningioma characterized by the presence of small and medium sized vessels that predominate over the meningioma cells.|NCI|N|
C0334609|An obsolete term referring to hemangiopericytoma of the central nervous system.|NCI|N|
C0334611|A WHO grade I meningioma characterized by the coexistence of meningothelial cells and fibrous architectural patterns.|NCI|N|
C0334612|A rare condition characterized by diffuse spread of sarcoma cells throughout the meninges. The neoplastic cells are derived from meningeal connective tissue. Clinically, this disorder may present as a fulminant pachymeningitis and/or encephalitis.|NCI|N|
C0334613|A rare neurofibroma characterized by the presence of melanin-laden cells and the absence of atypia.|NCI|N|
C0334616|Malignant triton tumor (MTT) is a rare aggressive subtype of malignant peripheral nerve sheath tumor (MPNST; see this term) characterized histopathologically by focal rhabdomyoblastic differentiation.|ORDO|N|
C0334618|An uncommon granular cell tumor which may metastasize to other anatomic sites. Morphologic characteristics include the presence of spindling neoplastic cells, necrosis, extensive pleomorphism, prominent nucleoli, and increased mitiotic activity.|NCI|N|
C0334620|An antiquated term referring to non-Hodgkin lymphomas with a diffuse architectural pattern.|NCI|N|
C0334627|A nodular sclerosis Hodgkin lymphoma characterized by the presence of lacunar cells, nodular growth, and the absence of fibrosis.|NCI|N|
C0334630|Nodular sclerosis Hodgkin lymphoma in which at least 25% of the tumor nodules contain increased numbers of Reed-Sternberg cells.|NCI|N|
C0334633|A clonal neoplasm of small B-lymphocytes, lymphoplasmacytoid cells, and plasma cells involving the bone marrow, lymph nodes, and the spleen. The majority of patients have a serum IgM paraprotein.|NCI|N|
C0334638|A clinico-pathological entity reflecting the multiple polyps throughout the gastrointestinal tract created as a result of involvement by a non-Hodgkin lymphoma. Typically, mantle cell lymphomas involving the gastrointestinal tract give rise to multifocal lymphomatous polyposis. Importantly, other histologic subtypes of non-Hodgkin lymphoma can also produce this clinico-pathological entity. (WHO, 2000)|NCI|N|
C0334641|Antiquated term describing non-Hodgkin lymphomas that are usually diffuse and are composed of large cells with irregular nuclei, invisible nucleoli and a small amount of cytoplasm. This morphologic category includes both mature B- and mature T-cell lymphomas.|NCI|N|
C0334642|Antiquated term for diffuse non-Hodgkin lymphomas composed of non-cleaved cells. The vast majority of cases are mature B-cell lymphomas (Burkitts or diffuse large B-cell lymphomas).|NCI|N|
C0334655|An obsolete variant of peripheral T-cell lymphoma, not otherwise specified included in the 2008 WHO classification. These lymphomas usually have a T follicular helper (TFH) cell phenotype and have been moved to the category of angioimmunoblastic T-cell lymphoma and other nodal lymphomas of T follicular helper cell origin in the 2017 WHO update. (WHO 2017)|NCI|N|
C0334660|Intravascular large B-cell lymphoma (IVLBCL) is a very rare form of diffuse large B-cell lymphoma (see this term) characterized by the selective growth of lymphoma cells within the lumina of small blood vessels (especially the capillaries) that most often presents with a wide range of clinical manifestations (as potentially any tissue can be involved), with patients from Western countries more frequently manifesting with neurological and cutaneous symptoms while patients from Asian countries more frequently displaying hepatosplenomegaly and thrombocytopenia. IVLBCL is characterized by an absence of lymphadenopathy, an aggressive clinical course and a poor prognosis.|ORDO|N|
C0334663|A rare histiocytic tumor characterized by a malignant proliferation of cells showing morphological and immunophenotypic features of mature tissue histiocytes. Most cases occur in extranodal sites, most commonly the intestinal tract, skin, and soft tissue. Patients may present with a solitary mass, lymphadenopathy, a skin rash or numerous tumors on the trunk and extremities, lytic bone lesions, hepatosplenomegaly with pancytopenia, intestinal obstruction, and/or systemic symptoms. The neoplasm is aggressive with typically poor therapy response.|ORDO|N|
C0334664|A heterogeneous group of disorders characterized by the abnormal growth and accumulation of mast cells in one or more organ systems. Recent data suggest that most variants of mast cell neoplasms are clonal disorders. (WHO, 2001)|NCI|N|
C0334674|A rare unclassified acute myeloid leukemia characterized by an acute panmyeloid proliferation with blasts constituting more than 20% of cells in the bone marrow or peripheral blood, accompanied by fibrosis of the bone marrow. Patients typically present with acute onset of severe constitutional symptoms, bone pain, and pancytopenia. Splenomegaly is minimal or absent. The disease is rapidly progressive with poor therapy response.|ORDO|N|
C0334683|A basal cell carcinoma of the skin that is characterized by sebaceous differentiation.|NCI|N|
C0334684|An adenoma arising from the renal cortex.|NCI|N|
C0334695|Neoplasms of the endometrial stroma that sometimes involve the myometrium. These tumors contain cells that may closely or remotely resemble the normal stromal cells. Endometrial stromal neoplasms are divided into three categories: (1) benign stromal nodules; (2) low-grade stromal sarcoma, or endolymphatic stromal myosis; and (3) malignant endometrial stromal sarcoma (sarcoma, endometrial stromal).|MONDO|N|
C0334699|An infiltrating malignant tumor characterized by the presence of atypical cells with myoepithelial differentiation. Representative examples include malignant breast myoepithelioma and salivary gland myoepithelial carcinoma.|NCI|N|
C0337093|An ICD encounter due to occupational exposure to noise.|NCI|N|
C0337598|An unmarried, older woman, beyond the usual age for marriage.|NCI|N|
C0337600|A man who is not, and has never been, married.|NCI|N|
C0337664|A person who inhales or has inhaled combustible products of organic material during their lifetime.|NCI|N|
C0337667|An individual who currently, or recently, smokes cigarettes regularly.|NCI|N|
C0337671|Current non-smoker with past history of smoking.|SNOMEDCT_US|N|
C0337676|An individual who generally only drinks at social events.|NCI|N|
C0337679|An individual who used to drink regularly, but does not drink at the present time.|NCI|N|
C0338070|An astrocytoma, without designation of benign or malignant, that is found in the supratentorial region. The infratentorial location is more common in children.|NCI|N|
C0338078|A type of pituitary adenoma that is of unknown cellular origin and that lacks immunocytochemical or fine structural markers. Null cell adenomas are not associated with hormone excess.|HPO|N|
C0338106|An adenocarcinoma arising from the colon. It is more frequently seen in populations with a Western type diet and in patients with a history of chronic inflammatory bowel disease. Signs and symptoms include intestinal bleeding, anemia, and change in bowel habits. According to the degree of cellular differentiation, colonic adenocarcinomas are divided into well, moderately, and poorly differentiated. Histologic variants include mucinous adenocarcinoma, signet ring cell carcinoma, medullary carcinoma, serrated adenocarcinoma, cribriform comedo-type adenocarcinoma, and micropapillary adenocarcinoma.|NCI|N|
C0338113|A malignant mesenchymal neoplasm arising from the wall of the uterine corpus (uterine body). The most representative examples are leiomyosarcoma and endometrial stromal sarcoma.|NCI|N|
C0338327|A finding of brain stem glioma in childhood that has not been treated.|NCI|N|
C0338329|The reemergence of brain stem glioma in childhood after a period of remission.|NCI|N|
C0338333|A finding of supratentorial primitive neuroectodermal tumor in childhood that has not been treated.|NCI|N|
C0338334|The reemergence of supratentorial embryonal tumor, not otherwise specified in childhood after a period of remission.|NCI|N|
C0338335|A finding of visual pathway glioma in childhood that has not been treated.|NCI|N|
C0338336|The reemergence of visual pathway glioma in childhood after a period of remission.|NCI|N|
C0338337|A finding of cerebellar astrocytoma in childhood that has not been treated.|NCI|N|
C0338338|Regrowth of benign and malignant childhood cerebellar astrocytomas that have previously been subjected to surgical resection and less frequently other forms of therapy such as radiation or chemotherapy. Recurrence of benign tumors (e.g., (pilocytic astrocytoma) may respond to a second surgical procedure.|NCI|N|
C0338339|The reemergence of cerebral astrocytoma in childhood after a period of remission.|NCI|N|
C0338341|A finding of medulloblastoma in childhood that has not been treated.|NCI|N|
C0338342|The reemergence of childhood medulloblastoma after a period of remission.|NCI|N|
C0338395|A form of gram-negative meningitis that tends to occur in neonates, in association with anatomical abnormalities (which feature communication between the meninges and cutaneous structures) or as opportunistic infections in association with immunologic deficiency syndromes. In premature neonates the clinical presentation may be limited to anorexia; vomiting; lethargy; or respiratory distress. Full-term infants may have as additional features fever; seizures; and bulging of the anterior fontanelle. (From Menkes, Textbook of Child Neurology, 5th ed, pp398-400)|MONDO|N|
C0338401|Inflamation of the brain related to infection by an enterovirus.|HPO|N|
C0338418|A fulminant and often fatal demyelinating disease of the brain which primarily affects young adults and children. Clinical features include the rapid onset of weakness, seizures, and coma. It may follow a viral illness or mycoplasma pneumoniae infections but in most instances there is no precipitating event. Pathologic examination reveals marked perivascular demyelination and necrosis of white matter with microhemorrhages. (Adams et al., Principles of Neurology, 6th ed, pp924-5)|MONDO|N|
C0338424|Encephalitis caused by bacterial infection.|HPO|N|
C0338428|Granulomatous amebic encephalitis is a life-threatening infection of the brain caused by the free-living amoebae Acanthamoeba spp., Balamuthia mandrillaris and Sappinia pedata. Acanthamoeba species, are commonly found in lakes, swimming pools, tap water, and heating and air conditioning units. The disease affects immunocompromised peple and is very serious. Symptoms include mental status changes, loss of coordination, fever, muscular weakness or partial paralysis affecting one side of the body, double vision, sensitivity to light and other neurologic problems. The diagnosis is difficult and is often made at advanced stages. Tests useful in the diagnosis include brain scans, biopsies, or spinal taps and in disseminated disease, biopsy of the involved sites and testing by the laboratory experts. Early diagnosis is important for the prognosis. No single drug is effective; hence multiple antibiotics are needed for successful treatment. A combination of surgical and medical interventions involving multiple specialty experts is required to prevent death and morbidity in survivors.|MONDO|N|
C0338430|A rare disorder characterized by degenerative changes in the limbic area of the brain. Causes include infections and autoimmune conditions; it may also manifest as a paraneoplastic syndrome, most often caused by small cell lung carcinoma. Signs and symptoms include behavioral changes, hallucinations and dementia.|NCI|N|
C0338437|A parasitic infection with tapeworms of the genus Taenia affecting the brain. It is manifested with seizures and headaches.|NCI|N|
C0338451|Frontotemporal dementia (FTD) refers to a clinical manifestation of the pathologic finding of frontotemporal lobar degeneration (FTLD). FTD, the most common subtype of FTLD, is a behavioral variant characterized by changes in social and personal conduct with loss of volition, executive dysfunction, loss of abstract thought, and decreased speech output. A second clinical subtype of FTLD is 'semantic dementia,' characterized by specific loss of comprehension of language and impaired facial and object recognition. A third clinical subtype of FTLD is 'primary progressive aphasia' (PPA), characterized by a reduction in speech production, speech errors, and word retrieval difficulties resulting in mutism and an inability to communicate. All subtypes have relative preservation of memory, at least in the early stages. FTLD is often associated with parkinsonism or motor neuron disease (MND) resembling amyotrophic lateral sclerosis (ALS; 105400) (reviews by Tolnay and Probst, 2002 and Mackenzie and Rademakers, 2007). Mackenzie et al. (2009, 2010) provided a classification of FTLD subtypes according to the neuropathologic findings (see PATHOGENESIS below).
Clinical Variability of Tauopathies
Tauopathies comprise a clinically variable group of neurodegenerative diseases characterized neuropathologically by accumulation of abnormal MAPT-positive inclusions in nerve and/or glial cells. In addition to frontotemporal dementia, semantic dementia, and PPA, different clinical syndromes with overlapping features have been described, leading to confusion in the terminology (Tolnay and Probst, 2002). Other terms used historically include parkinsonism and dementia with pallidopontonigral degeneration (PPND) (Wszolek et al., 1992); disinhibition-dementia-parkinsonism-amyotrophy complex (DDPAC) (Lynch et al., 1994); frontotemporal dementia with parkinsonism (FLDEM) (Yamaoka et al., 1996); and multiple system tauopathy with presenile dementia (MSTD) (Spillantini et al., 1997). These disorders are characterized by variable degrees of frontal lobe dementia, parkinsonism, motor neuron disease, and amyotrophy.
Other neurodegenerative associated with mutations in the MAPT gene include Pick disease (172700) and progressive supranuclear palsy (PSP; 601104),
Inherited neurodegenerative tauopathies linked to chromosome 17 and caused by mutation in the MAPT gene have also been collectively termed 'FTDP17' (Lee et al., 2001).
Kertesz (2003) suggested the term 'Pick complex' to represent the overlapping syndromes of FTD, primary progressive aphasia (PPA), corticobasal degeneration (CBD), PSP, and FTD with motor neuron disease. He noted that frontotemporal dementia may also be referred to as 'clinical Pick disease' and that the term 'Pick disease' should be restricted to the pathologic finding of Pick bodies.
Genetic Heterogeneity of Frontotemporal Lobar Degeneration
Mutations in several different genes can cause frontotemporal dementia and frontotemporal lobar degeneration, with or without motor neuron disease. See FTLD with TDP43 inclusions (607485), caused by mutation in the GRN gene (138945) on chromosome 17q21; FTLALS7 (600795), caused by mutation in the CHMP2B gene (609512) on chromosome 3p11; inclusion body myopathy with Paget disease and FTD (IBMPFD; 167320), caused by mutation in the VCP gene (601023) on chromosome 9p13; ALS6 (608030), caused by mutation in the FUS gene (137070) on 16p11; ALS10 (612069), caused by mutation in the TARDBP gene (605078) on 1p36; and FTDALS1 (105550), caused by mutation in the C9ORF72 gene (614260) on 9p21.
In 1 family with FTD, a mutation was identified in the presenilin-1 gene (PSEN1; 104311) on chromosome 14, which is usually associated with a familial form of early-onset Alzheimer disease (AD3; 607822).|OMIM|N|
C0338462|A progressive loss of the ability to remember the meaning of words, faces and objects.|HPO|N|
C0338465|A paroxysmal dystonic movement disorder occurring in association with gastro-esophageal reflux, and, in some cases, hiatal hernia. The prevalence is unknown. Onset usually occurs during infancy or early childhood. The dystonic movements are characterized by abnormal posturing of the head and neck (torticollis) and severe arching of the spine. The dystonic movements are clearly associated with gastro-esophageal reflux but the pathophysiological mechanism is not clearly understood.|SNOMEDCT_US|N|
C0338473|A finding that refers to the axonal swelling (spheroids) located throughout the central and peripheral nervous system.|NCI|N|
C0338474|A loss of myelin from nerve fibers in the central nervous system.|HPO|N|
C0338480|Repeated headache attacks lasting 4-72 h fulfilling at least two of the following criteria|HPO|N|
C0338484|Familial hemiplegic migraine (FHM) falls within the category of migraine with aura. In migraine with aura (including FHM) the neurologic symptoms of aura are unequivocally localizable to the cerebral cortex or brain stem and include visual disturbance (most common), sensory loss (e.g., numbness or paresthesias of the face or an extremity), and dysphasia (difficulty with speech). FHM must include motor involvement, such as hemiparesis (weakness of an extremity). Hemiparesis occurs with at least one other symptom during FHM aura. Neurologic deficits with FHM attacks can be prolonged for hours to days and may outlast the associated migrainous headache. FHM is often earlier in onset than typical migraine, frequently beginning in the first or second decade; the frequency of attacks tends to decrease with age. Approximately 40%-50% of families with CACNA1A-FHM have cerebellar signs ranging from nystagmus to progressive, usually late-onset mild ataxia.|GeneReviews|N|
C0338488|A rare, genetic, neurodevelopmental disorder characterized by early-onset of recurrent, transient episodes of hemiplegia (including quadriplegia), which typically disappear upon sleep.|ORDO|N|
C0338489|An episode of migraine that persists for more than 72 hours.|NCI|N|
C0338495|A distinct form of sleep-disordered breathing characterized as central sleep apnea (CSA), and presents in obstructive sleep apnea (OSA) patients during initial treatment with a continuous positive airway pressure (CPAP) device.|MONDO|N|
C0338502|Underdevelopment of the optic nerve.|HPO|N|
C0338503|Septooptic dysplasia is a clinically heterogeneous disorder loosely defined by any combination of optic nerve hypoplasia, pituitary gland hypoplasia, and midline abnormalities of the brain, including absence of the corpus callosum and septum pellucidum (Dattani et al., 1998). The diagnosis of this rare congenital anomaly is made when 2 or more features of the classic triad are present. Approximately 30% of patients have complete manifestations, 62% display hypopituitarism, and 60% have an absent septum pellucidum. The disorder is equally prevalent in males and females and is more common in infants born to younger mothers, with a reported incidence of 1 in 10,000 live births (summary by Webb and Dattani, 2010).
Also see 516020.0012 for a form of septooptic dysplasia associated with cardiomyopathy and exercise intolerance.|OMIM|N|
C0338504|A developmental anomaloy characterized by congenital excavation of the optic nerve head.|HPO|N|
C0338508|Optic atrophy type 1 (OPA1, or Kjer type optic atrophy) is characterized by bilateral and symmetric optic nerve pallor associated with insidious decrease in visual acuity (usually between ages 4 and 6 years), visual field defects, and color vision defects. Visual impairment is usually moderate (6/10 to 2/10), but ranges from mild or even insignificant to severe (legal blindness with acuity <1/20). The visual field defect is typically centrocecal, central, or paracentral; it is often large in those with severe disease. The color vision defect is often described as acquired blue-yellow loss (tritanopia). Other findings can include auditory neuropathy resulting in sensorineural hearing loss that ranges from severe and congenital to subclinical (i.e., identified by specific audiologic testing only). Visual evoked potentials are typically absent or delayed; pattern electroretinogram shows an abnormal N95:P50 ratio. Tritanopia is the classic feature of color vision defect, but more diffuse nonspecific dyschromatopsia is not uncommon. Ophthalmoscopic examination discloses temporal or diffuse pallor of the optic discs, sometimes associated with optic disc excavation. The neuroretinal rim shows some pallor in most cases, sometimes associated with a temporal pigmentary gray crescent.|GeneReviews|N|
C0338572|A rare, life threatening rare neurologic disease characterized by a sudden rupture of an intracranial aneurysm into the subarachnoid space. It usually presents with a sudden, severe, excruciating headache accompanied by nausea, vomiting and syncope. Other features may include focal neurological signs, third and sixth nerve palsies, seizures and cardiac failure. Early complications include rebleeding, hydrocephalus, and seizures.|ORDO|N|
C0338573|An intracranial thrombosis of the venous sinuses. These typically present with headache, seizures or venous stroke secondary to raised cerebral venous pressure. Cerebral venous sinus thromboses usually affect larger areas of brain parenchyma than those affected by cerebral vein thromboses.|HPO|N|
C0338575|Formation or presence of a blood clot (thrombus) in the superior sagittal sinus or the inferior sagittal sinus. Sagittal sinus thrombosis can result from infections, hematological disorders, craniocerebral trauma; and neurosurgical procedures. Clinical features are primarily related to the increased intracranial pressure causing headache; nausea; and vomiting. Severe cases can evolve to seizures or coma.|MONDO|N|
C0338585|A separation (dissection) of the layers of the carotid artery wall.|HPO|N|
C0338586|Splitting of the vessel wall in the VERTEBRAL ARTERY. Interstitial hemorrhage into the media of the vessel wall can lead to occlusion of the vertebral artery, aneurysm formation, or THROMBOEMBOLISM. Vertebral artery dissection is often associated with TRAUMA and injuries to the head-neck region but can occur spontaneously.|MSH|N|
C0338591|A paroxysmal, transient loss of memory function with preservation of immediate recall and remote memory but with a severe impairment of memory for recent events and ability to retain new information.|HPO|N|
C0338596|A type of cerebral palsy defined by increased tone and pathological reflexes resulting in an abnormal pattern of movement and posture.|SNOMEDCT_US|N|
C0338597|A cyst occurring within the choroid plexus within a cerebral ventricle.|HPO|N|
C0338599|Glioependymal/ependymal cyst is a rare central nervous system malformation defined as a subarachnoid, supratentorial, interventricular or intraspinal, sometimes intracerebral or intramedullar cyst with an internal ependymal lining, possibly surrounded by glial tissue. It may be an incidental finding or may present at different ages with clinical features depending on its size and location. It may distort adjacent brain structures and cause macrocephaly, ventriculomegaly, hydrocephalus, focal neurological signs and other signs and symptoms. In some cases, it is associated with other cerebral malformations (e.g. corpus callosum agenesis, polymicrogyria, heterotopias).|ORPHANET|N|
C0338614|Periods of time during which an individual experiences significant disturbances in their thoughts, perceptions, emotions, and behavior, resulting in a loss of touch with reality. These episodes are hallmark features of psychotic disorders such as schizophrenia, schizoaffective disorder, and certain forms of bipolar disorder.|HPO|N|
C0338656|Abnormal cognition is characterized by deficits in thinking, reasoning, or remembering.|HPO|N|
C0338677|A substance abuse that involves the recurring use of antidepressant drugs despite negative consequences.|MONDO|N|
C0338700|A substance abuse that involves the recurring use of barbiturate drugs despite negative consequences.|MONDO|N|
C0338749|Physical and psychological dependence on hallucinogenics, which is associated with a pattern of continuous use.|NCI|N|
C0338750|Physical and psychological dependence on hallucinogenics, which is associated with a pattern of episodic use.|NCI|N|
C0338757|Physical and psychological dependence on the drug cannabis, which is associated with a pattern of continuous use.|NCI|N|
C0338758|Physical and psychological dependence on the drug cannabis, which is associated with a pattern of episodic use.|NCI|N|
C0338762|Physical or psychological dependence on the drug cocaine which is associated with a pattern of continuous use.|NCI|N|
C0338763|Physical and psychological dependence on the drug cocaine, which is associated with a pattern of episodic use.|NCI|N|
C0338767|A drug dependence that involves the continued use of barbiturates despite problems related to use of the substance.|MONDO|N|
C0338768|Addiction to a benzodiazepine.|HPO|N|
C0338777|Strong physiological and emotional dependence on OPIUM.|MSH|N|
C0338945|A respiratory malfunction for which mental factors play a causative role.|NCI|N|
C0338986|A rare, pervasive developmental disorder that does not fit the diagnosis for the other specific autistic spectrum disorders (autism, Asperger syndrome, Rett syndrome or childhood disintegrative disorder) and is characterized by usually milder developmental and social delay and less stereotypical autistic behavior.|ORDO|N|
C0339002|A mental disorder characterized by inattention, easy distraction, careless mistakes and avoidance of tasks that require sustained mental focus. These behaviors can lead to maladaptive consequences in the affected individual''s life.|NCI|N|
C0339085|A very rare syndrome characterized by a combination of blepharochalasis, double lip, and non-toxic thyroid enlargement (seen in 10-50% of cases), although the occurrence of all three signs at presentation is uncommon. Hypertrophy of the mucosal zone of the lip with persistence of the horizontal sulcus between cutaneous and mucosal zones gives an appearance of double lip, with the upper lip being frequently involved. Blepharochalasis, or episodic edema of eyelid, appears around puberty, is present in 80% of cases, is usually bilateral, and can rarely lead to vision impairment and other ocular complications. Most cases are sporadic, but familial cases (with a possible autosomal dominant inheritance) have also been reported.|ORDO|N|
C0339107|A neoplasm that arises from the upper or lower eyelid and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C0339108|A papilloma that arises from the eyelid. It is composed of squamous cells and is characterized by the presence of an acanthotic epithelium with hyperkeratosis and papillary projections with an inner fibrovascular core. It is the most common benign epithelial tumor of eyelid. It usually affects middle-aged or older adults.|NCI|N|
C0339109|A benign skin neoplasm that arises from the eyelid. It is characterized by the intraepidermal proliferation of basaloid keratinocytes, acanthosis, hyperkeratosis, and cysts formation.|NCI|N|
C0339110|A capillary hemangioma arising from the eyelid.|NCI|N|
C0339114|A basal cell carcinoma that arises from the eyelid.|NCI|N|
C0339116|A melanoma that arises from the upper or lower eyelid.|NCI|N|
C0339124|A benign or malignant neoplasm that affects the lacrimal gland.|NCI|N|
C0339143|An autoimmune disorder of the EYE, occurring in patients with Graves disease. Subtypes include congestive (inflammation of the orbital connective tissue), myopathic (swelling and dysfunction of the extraocular muscles), and mixed congestive-myopathic ophthalmopathy.|MSH|N|
C0339152|The presence of air or gas in the subcutaneous tissue of the orbit of the eye.|NCI|N|
C0339166|Inflammation of the conjunctiva in a newborn due to Neisseria gonorrhoeae which was acquired during labor and delivery.|NCI|N|
C0339182|Partial fusion of the upper and lower eyelid margins by single or multiple bands of tissue.|HPO|N|
C0339200|Breakage of the sclera.|HPO|N|
C0339206|A localized defect in the anterior eye wall with protrusion of uveal tissue due to alterations in scleral thickness and structure.|HPO|N|
C0339229|A rare disorder of the anterior segment of the eye characterized by unilateral or bilateral, chronic and recurrent inflammation affecting the upper tarsal and bulbar conjunctiva, as well as the superior limbus, manifesting as a papillary reaction on the upper tarsal conjunctiva, thickening and folding of redundant superior bulbar conjunctiva, and superficial punctate epithelial keratitis with or without filament formation near the superior corneal limbus. Middle-aged women are most commonly affected and present with foreign body sensation, frequent blinking, burning sensation, and pruritus, among others.|ORDO|N|
C0339273|Gelatinous drop-like corneal dystrophy is an autosomal recessive disorder characterized by severe corneal amyloidosis leading to blindness. Clinical manifestations, which appear in the first decade of life, include blurred vision, photophobia, and foreign-body sensation. By the third decade, raised, yellowish-gray, gelatinous masses severely impair visual acuity, and lamellar keratoplasty is required for most patients (summary by Tsujikawa et al., 1999).|OMIM|N|
C0339277|Meesmann corneal dystrophy-1 (MECD1) is a dominantly inherited disorder characterized by the presence of multitudinous microcysts within the anterior epithelium on slit lamp examination. The disorder can cause foreign body sensation and photophobia but is often asymptomatic and detected in the course of routine eye examination. Microcysts are evident even in asymptomatic individuals. Rarely, a more severe phenotype with corneal erosions and scarring can lead to significant loss of visual acuity requiring treatment by keratoplasty or corneal grafting. A subtle feature is the presence of gray serpiginous lines within the anterior epithelium (summary by Liao et al., 2011).
Genetic Heterogeneity of Meesmann Corneal Dystrophy
MECD2 (618767) is caused by mutation in the KRT3 gene (148043) on chromosome 12q13.|OMIM|N|
C0339278|Reis-Bucklers corneal dystrophy (CDRB) is an autosomal dominant disorder of the superficial corneal stroma that manifests as recurrent corneal erosions in early childhood. Affected individuals develop corneal opacities that result in significant visual impairment. Microscopically, CDRB may be differentiated from other forms of corneal dystrophy by confluent opacities in the Bowman layer and subepithelium, which are the product of extracellular bodies that stain red with Masson trichrome stain and appear as crystalloid rod-shaped bodies on transmission electron microscopy (summary by Tanhehco et al., 2006).|OMIM|N|
C0339282|Pre-Descemet corneal dystrophy (PDCD) is a rare form of stromal corneal dystrophy characterized by focal, fine, gray opacities in the deep stroma immediately anterior to the Descemet membrane, with no effect on vision.|ORDO|N|
C0339284|Posterior polymorphous corneal dystrophy (PPCD) is a rare disorder involving metaplasia and overgrowth of corneal endothelial cells (Krafchak et al., 2005). In patients with PPCD, these cells manifest in an epithelial morphology and gene expression pattern, produce an aberrant basement membrane, and, sometimes, spread over the iris and nearby structures in a way that increases the risk for glaucoma. Symptoms can range from very aggressive to asymptomatic and nonprogressive, even within the same family. The age of diagnosis is, most often, in the second or third decade of life.
Clinically, PPCD is characterized by vesicles, bands, and polymorphous opacities at the level of the Descemet membrane and corneal endothelium. Peripheral anterior iris adhesions, iris atrophy, pupillary ectropion, and corectopia may also develop. Occasional severe visual disability results from secondary glaucoma or corneal edema. On ultrastructural examination, corneal endothelial cells show fibroblastic and epithelial-like transformation (summary by Liskova et al., 2012).
Genetic Heterogeneity of Posterior Polymorphous Corneal Dystrophy
Other forms of PPCD include PPCD2 (609140), caused by mutation in the COL8A2 gene (120252) on chromosome 1p34.3; PPCD3 (609141), caused by mutation in the ZEB1 gene (189909) on chromosome 10p; and PPCD4 (618031), caused by mutation in the GRHL2 gene (608576) on chromosome 8q22.|OMIM|N|
C0339288|A rare disorder of the anterior segment of the eye characterized by slowly progressive, bilateral, non-ulcerative, non-inflammatory, clear thinning of the inferior portion of the peripheral cornea (extending from the 4 o'clock to the 8 o'clock position), with an area of corneal protrusion above the point of maximal thinning, resulting in against-the-rule astigmatism with decreased visual acuity. The central cornea is of normal thickness.|ORDO|N|
C0339293|A rupture of the cornea through which a portion of the iris protrudes.|HPO|N|
C0339296|Neurotrophic keratopathy is a rare degenerative disease of the cornea characterized by reduction or loss of corneal sensitivity that can be asymptomatic or present with red-eye and, during the early stages of the disease, a minor decrease in visual acuity. It eventually leads to loss of vision.|ORDO|N|
C0339300|A rare superficial corneal dystrophy characterized by progressive opacity of the most anterior corneal layers. Slit-lamp examination reveals typical confluent translucent subepithelial deposits, extending in size and growing into clusters of golden droplets covering the cornea with disease progression. Patients present variably compromised visual acuity, depending on the stage of the disease. In advanced stages, decreased corneal sensation may lead to corneal trophic changes, perforation, and permanent visual loss.|ORDO|N|
C0339304|A benign or malignant neoplasm that affects the cornea.|NCI|N|
C0339315|A rare ophthalmic disorder characterized by intraocular inflammation with the anterior chamber as the predominant site of inflammation, without any identifiable etiology. Presenting symptoms are pain, redness, photophobia, and sometimes blurred vision. Signs on examination include anterior chamber cell and flare, limbal vascular injection, and keratic precipitates, among others.|ORDO|N|
C0339349|A benign or malignant neoplasm that affects the ciliary body.|NCI|N|
C0339350|Any anatomic abnormality or physiologic dysfunction of the lens of the eye that is present at the time of birth.|NCI|N|
C0339352|A cataract that affects the capsule of the lens.|HPO|N|
C0339432|Rare disease characterized by suprachoroidal fluid accumulation between the CHOROID and the SCLERA, annular detachment of the CHOROID, often with secondary RETINAL DETACHMENT; OPTIC DISK EDEMA, and minimal signs of UVEITIS and INTRAOCULAR PRESSURE changes.|MSH|N|
C0339434|Finding of fluid accumulation between the CHOROID and the SCLERA.|MSH|N|
C0339467|Retinopathy characterized by the formation of new vessels in the retina. The new vessels are abnormal and fragile. If hemorrhage occurs due to the vascular fragility, there is increased risk of vision loss or blindness.|NCI|N|
C0339477|A creamy appearance of the retinal blood vessels that occurs when the concentration of lipids in the blood are extremely increased, with pale pink to milky white retinal vessels and altered pale reflexes from choroidal vasculature.|HPO|N|
C0339478|A arteriosclerosis disorder that involves the retina.|MONDO|N|
C0339483|Injury of the retina following exposure to radiation. The retinal injury results from occlusive microangiopathy caused by endothelial cell loss.|NCI|N|
C0339495|Blockage of the cilioretinal artery. The central retinal artery supplies the inner retina and the surface of the optic nerve. In some individuals, the cilioretinal artery, a branch of the ciliary circulation, may supply a portion of the retina including the macula. In cilioretinal artery occlusion, vision loss results from cell death in the inner retinal layers (mainly ganglion cells) despite relative sparing of the outer layers.|HPO|N|
C0339505|Blockage of a branch of the retinal vein. It may present with sudden-onset of painless vision loss or visual field defect correlating to the area of perfusion of the obstructed vessels.|HPO|N|
C0339508|Macular dystrophy that is related to a change in a gene.|MONDO|N|
C0339510|Vitelliform macular dystrophy is a genetic eye disorder that can cause worsening (progressive) vision loss.  This disorder affects the retina, the specialized light-sensitive tissue that lines the back of the eye.  Specifically, vitelliform macular dystrophy disrupts cells in a small area near the center of the retina called the macula.  The macula is responsible for sharp central vision, which is needed for detailed tasks such as reading, driving, and recognizing faces.\n\nVitelliform macular dystrophy causes a fatty yellow pigment (called lipofuscin) to build up in cells underlying the macula. Over time, large amounts of this substance can damage cells that are critical for clear central vision. As a result, people with this disorder often lose their central vision, and their eyesight may become blurry or distorted.  Vitelliform macular dystrophy typically does not affect side (peripheral) vision or the ability to see at night.\n\nResearchers have described two forms of vitelliform macular dystrophy with similar features.  The early-onset form (known as Best disease) usually appears in childhood; the age at which symptoms begin and the severity of vision loss vary widely.  The adult-onset form begins later, usually in mid-adulthood, and tends to cause vision loss that worsens slowly over time.  The two forms of vitelliform macular dystrophy each have characteristic changes in the macula that can be detected during an eye examination.|MedlinePlus Genetics|N|
C0339527|Leber congenital amaurosis (LCA) comprises a group of early-onset childhood retinal dystrophies characterized by vision loss, nystagmus, and severe retinal dysfunction. Patients usually present at birth with profound vision loss and pendular nystagmus. Electroretinogram (ERG) responses are usually nonrecordable. Other clinical findings may include high hypermetropia, photodysphoria, oculodigital sign, keratoconus, cataracts, and a variable appearance to the fundus (summary by Chung and Traboulsi, 2009).
Genetic Heterogeneity of Leber Congenital Amaurosis
LCA2 (204100) is caused by mutation in the RPE65 gene (RPE65; 180069) on chromosome 1p31. LCA3 (604232) is caused by mutation in the SPATA7 gene (609868) on chromosome 14q31. LCA4 (604393) is caused by mutation in the AIPL1 gene (604392) on chromosome 17p13. LCA5 (604537) is caused by mutation in the LCA5 gene (611408) on chromosome 6q14. LCA6 (613826) is caused by mutation in the RPGRIP1 gene (605446) on chromosome 14q11. LCA7 (613829) is caused by mutation in the CRX gene (602225) on chromosome 19q13. LCA8 (613835) is caused by mutation in the CRB1 gene (604210) on chromosome 1q31. LCA9 (608553) is caused by mutation in the NMNAT1 gene (608700) on chromosome 1p36. LCA10 (611755) is caused by mutation in the CEP290 gene (610142) on chromosome 12q21 and may account for as many as 21% of cases of LCA. LCA11 (613837) is caused by mutation in the IMPDH1 gene (146690) on chromosome 7q32. LCA12 (610612) is caused by mutation in the RD3 gene (180040) on chromosome 1q32. LCA13 (612712) is caused by mutation in the RDH12 gene (608830) on chromosome 14q24. LCA14 (613341) is caused by mutation in the LRAT gene (604863) on chromosome 4q32. LCA15 (613843) is caused by mutation in the TULP1 gene (602280) on chromosome 6p21. LCA16 (614186) is caused by mutation in the KCNJ13 gene (603208) on chromosome 2q37. LCA17 (615360) is caused by mutation in the GDF6 gene (601147) on chromosome 8q22. LCA18 (see 608133) is caused by mutation in the PRPH2 gene (179605) on chromosome 6p21. LCA19 (618513) is caused by mutation in the USP45 gene (618439) on chromosome 6q16.
Perrault et al. (1999) provided a review of Leber congenital amaurosis, with emphasis on genetic heterogeneity.
Wiszniewski et al. (2011) analyzed 13 known LCA genes in 60 LCA probands, and identified homozygous or compound heterozygous mutations in 42 (70%). In addition, a third disease-associated mutant allele at a second locus was identified in 7 (12%) of the 60 patients. Wiszniewski et al. (2011) stated that the significance of the third mutated allele was unknown, but suggested that mutational load might be important to penetrance of the LCA phenotype.
Because LCA manifests very early in life and results in profound vision loss, patients with mutations in other syndromic or nonsyndromic eye disease genes may receive an initial diagnosis of LCA, prior to development of syndromic features or before more thorough phenotyping can be performed (see, e.g., Senior-Loken syndrome-5, 609254).|OMIM|N|
C0339530|A rare retinal dystrophy with characteristics of photophobia, progressive loss of visual acuity, nystagmus, visual field abnormalities, abnormal colour vision, and psychophysical and electrophysiological evidence of abnormal cone function. Progressive cone dystrophy usually presents in childhood or early adult life, and patients tend to develop rod photoreceptor dysfunction in later life.|SNOMEDCT_US|N|
C0339534|Usher syndrome type II (USH2) is characterized by the following: Congenital, bilateral sensorineural hearing loss that is mild to moderate in the low frequencies and severe to profound in the higher frequencies. Intact or variable vestibular responses. Retinitis pigmentosa (RP); progressive, bilateral, symmetric retinal degeneration that begins with night blindness and constricted visual fields (tunnel vision) and eventually includes decreased central visual acuity; the rate and degree of vision loss vary within and among families.|GeneReviews|N|
C0339535|A nonprogressive (i.e., stationary) form of difficulties with night blindness with congenital onset.|HPO|N|
C0339537|Blue cone (OPN1SW; 613522) monochromatism is a rare X-linked congenital stationary cone dysfunction syndrome characterized by the absence of functional long wavelength-sensitive and medium wavelength-sensitive cones in the retina. Color discrimination is severely impaired from birth, and vision is derived from the remaining preserved blue (S) cones and rod photoreceptors. BCM typically presents with reduced visual acuity, pendular nystagmus, and photophobia. Patients often have myopia (review by Gardner et al., 2009). There is evidence for progression of disease in some BCM families (Nathans et al., 1989; Ayyagari et al., 2000; Michaelides et al., 2005).|OMIM|N|
C0339539|Familial exudative vitreoretinopathy (FEVR) is a rare hereditary vitreoretinal disorder characterized by abnormal or incomplete vascularization of the peripheral retina leading to variable clinical manifestations ranging from no effects to minor anomalies, or even retinal detachment with blindness.|ORDO|N|
C0339541|A vitreoretinal dystrophy with characteristics of early onset of night blindness, reduced bilateral visual acuity, and typical fundus findings (progressive pigmentary degenerative changes, macular edema, retinoschisis). The onset is usually in childhood. Mutations in the NR2E3 gene (formerly called PNR) have been identified in some patients. NR2E3 (15q23) encodes a retinal nuclear receptor that is involved in the differentiation of photoreceptors. Inherited as an autosomal recessive trait and has a progressive course.|SNOMEDCT_US|N|
C0339543|An epiretinal membrane is a thin sheet of fibrous tissue that can develop on the surface of the macular area of the retina and cause a disturbance in vision. An epiretinal membrane area can develop on the thin macular area of the retin. An epiretinal membrane is also sometimes called a macular pucker, premacular fibrosis, surface wrinkling retinopathy or cellophane maculopathy.|HPO|N|
C0339554|A glial tumor of the retinal nerve fiber layer arising from a retinal astrocyte.|HPO|N|
C0339555|Sharply demarcated, congenital hyperpigmentation of the retinal pigment epithelium.|HPO|N|
C0339556|A non-Hodgkin lymphoma arising from the retina.|NCI|N|
C0339573|Quigley (1993) reviewed adult-onset primary open angle glaucoma, which combines a particular abnormal appearance of the optic disc (optic nerve head) with a slowly progressive loss of visual sensitivity. Many patients with glaucoma have intraocular pressures above the normal range, although this cannot be considered part of the definition of the disease, since some patients have normal intraocular pressures. Changes in the optic disc, either inherited or acquired, contribute to the development of the disorder, which leads to visual loss from increasing nerve fiber layer atrophy. Quigley et al. (1994) stated that POAG should be reviewed as a multifactorial disorder.
Genetic Heterogeneity of Primary Open Angle Glaucoma
Other forms of primary open angle glaucoma include GLC1A (137750), caused by mutation in the MYOC gene (601652) on chromosome 1q24; GLC1B (606689) on chromosome 2cen-q13; GLC1C (601682) on chromosome 3q21-q24; GLC1D (602429) on chromosome 8q23; GLC1F (603383), caused by mutation in the ASB10 gene (615054) on chromosome 7q36; GLC1G (609887), caused by mutation in the WDR36 gene (609669) on chromosome 5q22; GLC1H (611276), caused by mutation in the EFEMP1 gene (601548) on chromosome 2p16; GLC1I (609745) on chromosome 15q11-q13; GLC1J (608695) on chromosome 9q22; GLC1K (608696) on chromosome 20p12; GLC1L (see 137750) on chromosome 3p22-p21; GLC1M (610535) on chromosome 5q22; GLC1N (611274) on chromosome 15q22-q24; GLC1O (613100), caused by mutation in the NTF4 gene (162662) on chromosome 19q13; GLC1P (177700), caused by an approximately 300-kb duplication on chromosome 12q24, most likely involving the TBK1 gene (604834).
Nail-patella syndrome (NPS; 161200), which is caused by mutation in the LMX1B gene (602575) on chromosome 9q34, has open angle glaucoma as a pleiotropic feature.
Other Forms of Glaucoma
For a general description and a discussion of genetic heterogeneity of congenital forms of glaucoma, see GLC3A (231300).
See 606657 for a discussion of normal tension glaucoma (NTG) or normal pressure glaucoma (NPG), a subtype of POAG.
See 618880 for a discussion of primary closed-angle glaucoma.|OMIM|N|
C0339624|Convergent squint which follows loss or impairment of vision.|HPO|N|
C0339625|Esotropia in a patient who has previously had exotropia or exophoria; may be constant or intermittent and usually follows surgical overcorrection.|HPO|N|
C0339637|Exotropia in an individual who has previously had esotropia or esophoria.|HPO|N|
C0339639|A type of vertical tropia in which, when one eye is fixing, the other eye is deviated upwards.|HPO|N|
C0339640|An incomitant tendency for an occluded eye to elevate and extort which resolves on uncovering.|HPO|N|
C0339643|A type of incomitant strabismus in which both elevator muscles (i.e., the inferior oblique and superior rectus muscles) of the same eye are weak leading to restricted elevation and hypotropia.|HPO|N|
C0339644|An ocular movement abnormality characterized by simultaneous weakness of the inferior rectus muscle and superior oblique muscle of the same eye.|HPO|N|
C0339667|Voluntary nystagmus is a rapid to-and-fro synchronous movement of the eyes that is initiated and maintained by conscious effort. Voluntary nystagmus has a frequency of 10-25 Hz, with an amplitude of up to 6 degrees, and can be maintained for up to 35 seconds. It usually has its first appearance between ages 8 to 15 years. It can be produced in both light and darkness, without fixation, at all eye positions, and even with closed eyes. It is accompanied by oscillopsia with visual blurring (summary by Aschoff et al., 1976).|OMIM|N|
C0339672|A term to describe when farsightedness is masked when the accommodative muscles are used to increase the focusing power of the eye.|HPO|N|
C0339682|A type of refractive error related abnormal curvatures on the anterior or posterior surface of the cornea.|HPO|N|
C0339683|A type of astigmatism related to an irregular shape of the lens.|HPO|N|
C0339693|Paralysis of the iris and ciliary apparatus.|HPO|N|
C0339731|Charles Bonnet syndrome (CBS) refers to the presenceof visual hallucinations in individuals with visual acuity loss without havingpsychosis or dementia. The condition is likely caused by the brain continuing to interpret images, even in their absence. Underlying conditions of vision loss associated with Charles Bonnet syndrome are diverse (including conditions such as macular degeneration and stroke) and may affect the eye, optic nerve, or brain. Hallucinations often resolve if the underlying vision deficit is corrected and can also remit in some individuals with static or progressive vision loss. Treatment is individualized.|MONDO|N|
C0339765|A benign polypoid growth in the external ear.|NCI|N|
C0339789|complete loss of the ability to hear from both ears since birth, regardless of causation.|CSP|N|
C0339805|An allergic reaction triggered by exposure to allergens expressed by cats, includes allergenic factors found in feline saliva and dander.|NCI|N|
C0339806|Hypersensitivity in form of an adverse immune reaction against feathers.|HPO|N|
C0339808|Hypersensitivity in form of an adverse immune reaction against dust mites.|HPO|N|
C0339814|A polyp that arises from the frontal sinus mucosa. It is characterized by the presence of edematous tissue infiltrated by inflammatory cells, including eosinophils. Causes include allergic rhinitis, chronic sinusitis, and cystic fibrosis.|NCI|N|
C0339820|A non-neoplastic or neoplastic disorder that affects the nasal cavity. Representative examples include inflammatory disorders, papillomas, and carcinomas.|NCI|N|
C0339823|An epithelium-lined cyst in the nasal cavity.|NCI|N|
C0339825|Inflammation of the lining of the anterior portion of the nasal cavity, usually caused by a bacterial infection.|NCI|N|
C0339826|A benign exophytic squamous cell neoplasm with papillary growth that arises from the nasal vestibule.|NCI|N|
C0339848|A partial or complete breakage of the nose.|HPO|N|
C0339852|A rare otorhinolaryngological malformation characterized by a dermoid cyst along the nasal dorsum or glabella, lined by keratinized squamous epithelium and containing intraluminal keratin and mature adnexal structures, such as hair follicles, sebaceous and sweat glands. The majority of nasal dermoid cysts are superficial, rarely they extend intracranially. The cysts are typically benign but are susceptible to recurrent infections that may progress to osteomyelitis, meningitis or an intracranial abscess.|ORPHANET|N|
C0339853|A rare otorhinolaryngological malformation characterized by the presence of a dermoid cyst, located on the dorsum of the nose, which presents a fistula, often extending to the intracranial region. Patients present a firm, slow-growing mass, which contains skin and dermal elements (including hair follicles and sebaceous glands), that do not transilluminate or compress, and may be associated with intermittent or chronic discharge of sebaceous material, soft tissue and skeletal deformity, and local infection. Meningitis, convulsions and cerebral abscess may be observed if intracranial extension exists.|ORDO|N|
C0339864|A midline anterior-posterior cleft of the epiglottis that involves at least two-thirds of the epiglottic leaf. It is a useful feature for clinical diagnosis because it appears to be very rare in syndromes other than Pallister-Hall-Syndrome and is also rare as an isolated malformation.|HPO|N|
C0339880|Presence of a cyst (sac-like structure) located in the larynx.|HPO|N|
C0339904|It is a bilateral reticular pattern of linear or lineonodular densities that are most pronounced in basilar portions of the lungs on standard chest x-ray. It is the third minor criterion for scleroderma diagnosis.|HPO|N|
C0339946|A tularemia that is located in lungs. The bacteria are transmitted by breathing dusts or aerosols containing the organisms. The infection has symptom cough, has symptom chest has symptom pain, and has symptom difficulty breathing.|MONDO|N|
C0339959|An pneumonia caused by infection with Chlamydia.|MONDO|N|
C0339985|Idiopathic bronchiectasis&#160;(IB) is a progressive lung disease characterized by chronic dilation of the bronchi and destruction of the bronchial walls in the absence of any underlying cause (such as post infectious disease, aspiration, immunodeficiency, congenital abnormalities and ciliary anomalies).|ORDO|N|
C0340007|Catamenial pneumothorax is an extremely rare condition that affects women. Pneumothorax is the medical term for a collapsed lung, a condition in which air or gas is trapped in the space surrounding the lungs causing the lungs to collapse. Women with catamenial pneumothorax have recurrent episodes of pneumothorax that occur within 72 hours before or after the start of menstruation. The exact cause of catamenial pneumothorax is unknown and several theories have been proposed. Many cases are associated with the abnormal development of endometrial tissue outside of the uterus (endometriosis). Some believe that catamenial pneumothorax is the most common form of thoracic endometriosis (a condition in which the endometrial tissue grows in or around the lungs). A diagnosis of catamenial pneumothorax is usually suspected when a woman of reproductive age and with endometriosis has episodes of pneumothorax.Treatment is with hormones and surgery.|MONDO|N|
C0340014|Congenital chylothorax is a rare, potentially life-threatening neonatal condition characterized by the accumulation of chyle within the pleural space leading to respiratory distress, malnutrition and immunological compromise, either immediately after birth or within the first few weeks of life. Congenital chylothorax is the most common cause of pleural effusion in neonates; it can occur primarily due to developmental anomalies of the lymphatic duct or can be associated with chromosomal anomalies (e.g. Noonan syndrome, Turner syndrome and Down syndrome), hydrops fetalis, mediastinal neuroblastoma and other congenital malformations.|ORDO|N|
C0340016|Accumulation of lymph fluid in the pleural cavity as a result of thoracic trauma.|NCI|N|
C0340030|Deposits of hyalinized collagen fibers in the parietal pleura (preferentially pleura adjacent to ribs, particularly the sixth through ninth ribs).|HPO|N|
C0340037|Young syndrome is characterized by chronic sinopulmonary infections, persistent azoospermia, and normal spermatogenesis (Handelsman et al., 1984).|OMIM|N|
C0340046|Toxic bronchiolitis whereby a biospy has shown an obliteration of broncioles.|MONDO|N|
C0340100|A rare pulmonary condition characterized by non-cardiogenic pulmonary edema occurring in otherwise healthy individuals within days of an ascent above 2500-3000 m. Early symptoms include exertional dyspnea, non-productive cough, chest tightness, and reduced exercise performance, followed by dyspnea at rest and possibly orthopnea, as well as gurgling in the chest and pink frothy sputum in advanced cases. Clinical signs are cyanosis, tachypnea, tachycardia, crackles or wheezing, and elevated body temperature (generally not exceeding 38.5°C). Signs of concomitant high-altitude cerebral edema may also be observed. Chest x-rays typically show patchy opacities predominantly in the right middle lobe.|ORDO|N|
C0340116|Lymphangiomyomatosis involving the dermis.|NCI|N|
C0340127|Replacement of the lung tissue by connective tissue in a specific area of the lung.|NCI|N|
C0340164|A sarcoidosis characterized by the triad of erythema nodosum, bilateral hilar lymphadenopathy on chest radiograph, and joint pain.|MONDO|N|
C0340170|This condition is caused by slow-growing conglomeration of dust particles and collagen deposition in individuals (mostly coal workers) heavily exposed to inorganic dust. Progressive massive fibrosis manifests as masslike lesions, usually bilateral and in the upper lobes. Background nodular opacities reflect accompanying pneumoconiosis, with or without emphysematous destruction adjacent to the massive fibrosis. Lesions similar to progressive massive fibrosis sometimes occur in other conditions, such as sarcoidosis and talcosis.|HPO|N|
C0340177|A rare type of pneumoconiosis caused by long standing exposure to barium dust. It is characterized by the formation of fine dense lesions in the lung parenchyma. The lesions do not affect the lung function and disappear without treatment after the exposure to barium dust stops.|NCI|N|
C0340184|Pneumoconiosis caused by the inhalation of mixed mineral dust particles.|NCI|N|
C0340186|Pneumoconiosis caused by exposure to slate dust.|NCI|N|
C0340194|Respiratory failure due to a low level of oxygen in the blood without a high level of carbon dioxide.|SNOMEDCT_US|N|
C0340213|Tracheal diverticula are blind-ended outpouchings arising from the trachea. They are usually an incidental finding. Occasionally they can mimic pneumomediastinum. Tracheal diverticula are either congenital or acquired, in the latter case the most common causes are prolonged increased intraluminal pressure, e.g. chronic cough, COPD, tracheomalacia, and iatrogenic (e.g. post-surgical).|HPO|N|
C0340214|An abnormal communication between the trachea and another organ or anatomic site.|NCI|N|
C0340220|Tracheal hemorrhage is a focal bleeding within the trachea. It be diagnosed by tracheobronchoscopy.|HPO|N|
C0340221|Blockage of the lumen of the trachea. Causes include secretions, foreign bodies, and tumors.|NCI|N|
C0340222|A break or tear in the trachea.|HPO|N|
C0340231|Williams-Campbell syndrome is a congenital disorder characterized by severe bronchiectasis and recurrent pulmonary infections caused by a cartilage abnormality involving the 4th-6th order subsegmental bronchi. It typically presents in infancy or childhood with symptoms of coughing, wheezing, and dyspnea. Imaging reveals normal central airways with severe bilateral cystic bronchiectasis in the subsegmental bronchi, often associated with bronchial wall thickening, mucous plugging, and bronchomalacia. During dynamic imaging, the abnormal bronchi will demonstrate ballooning on inspiratory imaging and collapse/air-trapping on expiratory imaging (summary by Marini et al., 2017).|OMIM|N|
C0340279|Enlargement of the cardiac ventricular muscle tissue with increase in the width of the wall of the ventricle and loss of elasticity. Ventricular hypertrophy is clinically differentiated into left and right ventricular hypertrophy.|HPO|N|
C0340288|Angina pectoris which has not recently changed in frequency, duration or intensity. Stable angina pectoris is relieved by rest or administration or oral, sublingual or transdermal antianginal medications.|NCI|N|
C0340293|MYOCARDIAL INFARCTION in which the anterior wall of the heart is involved. Anterior wall myocardial infarction is often caused by occlusion of the left anterior descending coronary artery. It can be categorized as anteroseptal or anterolateral wall myocardial infarction.|MSH|N|
C0340305|Myocardial infarction in which the inferior wall of the heart is involved. It is often caused by occlusion of the right coronary artery.|MONDO|N|
C0340324|A history of myocardial infarction in the absence of clinical symptoms and positive electrocardiographic findings.|NCI|N|
C0340359|Endocarditis occurring on parts of a valve prosthesis or a reconstructed heart valve; it can be classified into early and late prosthetic valve endocarditis.|NCI|N|
C0340364|A rare familial congenital mitral malformation characterized by systolic displacement of one or both mitral leaflets >2 mm beyond the annular plane into the left atrium. Typical histological findings include myxomatous degeneration and degradation of collagen and elastin. Patients may remain asymptomatic or develop complications such as severe mitral regurgitation, endocarditis, and heart failure.|ORDO|N|
C0340375|A fixed form of obstruction to blood flow across the left-ventricular outflow tract related to stenosis (narrowing) below the level of the aortic valve.|HPO|N|
C0340427|A a genetic form of heart disease that occurs when heart (cardiac) muscle becomes thin and weakened in at least one chamber of the heart, causing the open area of the chamber to become enlarged (dilated). As a result, the heart is unable to pump blood as efficiently as usual. To compensate, the heart attempts to increase the amount of blood being pumped through the heart, leading to further thinning and weakening of the cardiac muscle. Over time, this condition results in heart failure.|MONDO|N|
C0340429|Familial restrictive cardiomyopathy is a genetic form of heart disease. For the heart to beat normally, the heart (cardiac) muscle must contract and relax in a coordinated way. Oxygen-rich blood from the lungs travels first through the upper chambers of the heart (the atria), and then to the lower chambers of the heart (the ventricles).\n\nIn people with familial restrictive cardiomyopathy, the heart muscle is stiff and cannot fully relax after each contraction. Impaired muscle relaxation causes blood to back up in the atria and lungs, which reduces the amount of blood in the ventricles.\n\nFamilial restrictive cardiomyopathy can appear anytime from childhood to adulthood. The first signs and symptoms of this condition in children are failure to gain weight and grow at the expected rate (failure to thrive), extreme tiredness (fatigue), and fainting. Children who are severely affected may also have abnormal swelling or puffiness (edema), increased blood pressure, an enlarged liver, an abnormal buildup of fluid in the abdominal cavity (ascites), and lung congestion. Some children with familial restrictive cardiomyopathy do not have any obvious signs or symptoms, but they may die suddenly due to heart failure. Without treatment, the majority of affected children survive only a few years after they are diagnosed.\n\nAdults with familial restrictive cardiomyopathy typically first develop shortness of breath, fatigue, and a reduced ability to exercise. Some individuals have an irregular heart beat (arrhythmia) and may also experience a sensation of fluttering or pounding in the chest (palpitations) and dizziness. Abnormal blood clots are commonly seen in adults with this condition. Without treatment, approximately one-third of adults with familial restrictive cardiomyopathy do not survive more than five years after diagnosis.|MedlinePlus Genetics|N|
C0340445|Pericarditis that is caused by an infection with a bacterial agent.|NCI|N|
C0340464|A cardiac beat originating from an abnormal site.|NCI|N|
C0340477|Accessory pathway-related atrioventricular reentrant tachycardia (AVRT) involves an abnormal electrical conduction of the accessory pathway. The accessory pathway connecting impulses between the atrium and the ventricle can be seen at any site in the AV groove.|HPO|N|
C0340481|A congenital disorder characterized by an electrocardiographic finding of tachycardia that affects neonates and infants. It results from an increased automaticity in the atrioventricular node and His bundle.|NCI|N|
C0340483|An incessant orthodromic tachycardia with anterograde conduction over the atrioventricular node and by retrograde conduction via an accessory pathway usually located in the posteroseptal region with slow and decremental conduction.|HPO|N|
C0340485|An instance of ventricular tachycardia that is caused by an inherited modification of the individual's genome.|MONDO|N|
C0340487|Incessant infant ventricular tachycardia is a rare type of ventricular tachycardia (VT) characterized by the presence of tachycardia originating from the ventricles, observed for more than 10% of a 24 hour monitoring period. Patients are either asymptomatic or present congestive heart failure.|ORDO|N|
C0340491|A rare cardiac rhythm disease, usually of the elderly, characterized by electrocardiographic findings of sinus bradycardia, atrial fibrillation, atrial tachycardia sinus arrest, or sino-atrial block, and that manifest with symptoms like syncope, dizziness, palpitations, fatigue, or even heart failure. It results from malfunction of the cardiac conduction system, probably secondary to degenerative fibrosis of nodal tissue in the elderly or secondary to cardiac disorders in younger patients.|ORDO|N|
C0340493|A rare, genetic, cardiac rhythm disease characterized by ventricular fibrillation in the absence of any structural or functional heart disease, or known repolarization abnormalities. The presence of J waves is associated with a higher risk of nocturnal ventricular fibrillation events and a higher risk of recurrence.|ORDO|N|
C0340496|A disorder characterized by an electrocardiographic finding of a complete atrioventricular block that manifests during fetal life or soon after birth. It may be isolated or associated with other congenital heart defects. Isolated congenital complete atrioventricular block may be associated with maternal connective tissue disorders.|NCI|N|
C0340517|Presence of a blood clot in the atria of the heart.|NCI|N|
C0340529|A disease or disorder that is associated with a transplanted heart.|NCI|N|
C0340537|The release of fat globules into the venous circulation, thereby blocking blood circulation to the lung.|HPO|N|
C0340543|Heritable pulmonary arterial hypertension (HPAH) is a form of pulmonary arterial hypertension (PAH, see this term), occurring due to mutations in PAH predisposing genes or in a familial context. HPAH is characterized by elevated pulmonary arterial resistance leading to right heart failure. HPAH is progressive and potentially fatal.|ORDO|N|
C0340544|Drug- or toxin-induced pulmonary arterial hypertension (PAH) is a form of pulmonary arterial hypertension (PAH, see this term) secondary to the exposition to drugs. Drug- or toxin-induced PAH is characterized by elevated pulmonary arterial resistance leading to right heart failure. Drug or toxin induced PAH is progressive and potentially fatal.|ORDO|N|
C0340569|Carotid stenosis is a narrowing or constriction of the inner surface (lumen) of the carotid artery, usually caused by atherosclerosis. The internal carotid artery supplies the brain. Plaque often builds up at that division, and causes a narrowing (stenosis). Pieces of plaque can break off and block the small arteries above in the brain, which causes a stroke. Plaque can also build up at the origin of the carotid artery at the aorta.|MONDO|N|
C0340608|The formation of a thrombus in the renal artery.|NCI|N|
C0340610|Entrapment of the POPLITEAL ARTERY in the LEG due to an abnormal course of the artery often associated with onset of development and/or overuse of the gastrocnemius or popliteus muscles on the back of the leg. It is most often associated with runners and other athletes with enlarged calf muscle that compresses the POPLITEAL ARTERY.|MSH|N|
C0340627|Congenital coronary artery aneurysm is a rare congenital coronary artery malformation defined as a more than 1.5 fold the normal size dilatation of a coronary artery segment with no identified underlying inflammatory or connective tissue disease. It may be asymptomatic or may present with angina pectoris, myocardial infarction, sudden cardiac death, fistula formation, pericardial tamponade, compression of surrounding structures, or congestive heart failure.|ORDO|N|
C0340630|An abnormal balloon- or sac-like dilatation in the wall of ABDOMINAL AORTA at the aortic hiatus.|MSH|N|
C0340639|A rare vascular anomaly characterized by dilation of the internal or the common carotid artery greater than 150% of the diameter of the normal, healthy vessel. Lesions of the carotid bifurcation are typically fusiform, degenerative in nature, and may occur bilaterally, while saccular aneurysms are usually unilateral and mostly located in the middle segment of the internal carotid artery. Symptomatic patients may present with a palpable pulsating mass, local pain, cerebral ischemia, peripheral nerve dysfunction, stridor, or voice changes due to local compression.|ORPHANET|N|
C0340643|Aortic dissection refers to a tear in the intimal layer of the aorta causing a separation between the intima and the medial layers of the aorta.|HPO|N|
C0340648|Acute occurrence of a dissection (tear within the tunica intima and entry of blood into the tunica media) of a coronary artery.|HPO|N|
C0340672|A rare secondary vasculitis characterized by an inflammation of blood vessels caused by various pharmaceutical agents, including certain antibiotics, anti-tumor necrosis factor-alpha agents, and psychoactive agents, among others. The skin is most commonly affected, but other tissues and organs, such as the subcutis, kidneys, or lungs may also be involved. Systemic disease develops only in a minority of patients treated with the causative drug over a prolonged period of time. Typical presenting signs and symptoms include skin rash, myalgia, arthralgia, fever, and malaise.|ORDO|N|
C0340753|Narrowing of a vein due to intimal hyperplasia and fibrosis.|HPO|N|
C0340754|Narrowing of the lumen of the subclavian vein.|NCI|N|
C0340756|Obstruction of the pulmonary vein in one or multiple sites. The obstruction is the result of wall thickening and narrowing of the lumen of the vein.|NCI|N|
C0340757|Abnormal narrowing of the lumen of the inferior vena cava.|NCI|N|
C0340758|Abnormal narrowing of the lumen of the superior vena cava.|NCI|N|
C0340803|Capillary malformations are a form of vascular malformation that are present from birth, tend to grow with the individual, do not regress spontaneously, and show normal rates of endothelial cell turnover. Capillary malformations are distinct from capillary hemangiomas (602089), which are highly proliferative lesions that appear shortly after birth and show rapid growth, slow involution, and endothelial hypercellularity (Spring and Bentz, 2005; Legiehn and Heran, 2006).|OMIM|N|
C0340834|A rare syndromic lymphedema characterized by the association of primary lymphedema, intestinal lymphangiectasia, intellectual deficit and unusual facial characteristics.|ORDO|N|
C0340848|Pulmonary venoocclusive disease-2 is an autosomal recessive subtype of primary pulmonary hypertension (PPH; see 178600). It is characterized histologically by widespread fibrous intimal proliferation of septal veins and preseptal venules, and is frequently associated with pulmonary capillary dilatation and proliferation. The disorder can cause occult alveolar hemorrhage. High-resolution CT imaging of the chest shows patchy centrilobular ground-glass opacities, septal lines, and lymph node enlargement (summary by Eyries et al., 2014).
For a discussion of genetic heterogeneity of pulmonary venoocclusive disease, see PVOD1 (265450).|OMIM|N|
C0340854|A condition in which neurally-mediated syncope occurs due to a specific circumstance, such as micturition, defecation, coughing, or traction of the hair. (ACC-AHA)|NCI|N|
C0340858|A condition in which there is hypotension because of the effects of a medication or other substance. (ACC-AHA)|NCI|N|
C0340861|An electrocardiographic finding of the presence of cardiac electrical rhythm without a proper response of the myocardial tissue and mechanical cardiac output.|NCI|N|
C0340908|Narrowing of the lumen of an arteriovenous fistula.|NCI|N|
C0340909|Partial or complete occlusion of the lumen within an arteriovenous fistula by a thrombus.|NCI|N|
C0340911|A bulge in a weakened vessel wall segment of an arteriovenous fistula.|NCI|N|
C0340923|Failure to capture manifests as a high pacing threshold that results in either intermittent failure to capture at maximal programmed output or excessive battery drain leading to premature battery exhaustion.|NCI|N|
C0340925|Inappropriate pacemaker detection of electrical signals not related to cardiac depolarization of the lead chamber.|NCI|N|
C0340926|Failure of pacemaker to detect appropriate cardiac depolarizations.|NCI|N|
C0340950|Subnormal concentrations of iron resulting from low iron intake, inefficient iron absorption in the gastrointestinal tract, or increased iron loss; occurring in the absence of anemia.|NCI|N|
C0340961|A disease characterized by normocytic, normochromic anemia, low hematocrit, reticulocytopenia and selective erythroid hypoplasia. It can occur as a chronic or acute form; the former is predominantly seen in adults and the latter in children. Pathogenesis involves immune dysfunction with antibodies directed against erythroid precursor cells or erythropoietin, or due to T-cell mediated suppression of erythropoiesis.|NCI|N|
C0340968|Red cell pyruvate kinase deficiency is the most common cause of hereditary nonspherocytic hemolytic anemia. PK deficiency is also the most frequent enzyme abnormality of the glycolytic pathway (Zanella et al., 2005).|OMIM|N|
C0340969|An autosomal recessive disorder caused by mutation of the NT5C3A gene. It is the most frequent abnormality of red cell nucleotide metabolism, causing chronic, non-spherocytic hemolytic anemia. Most affected individuals have Mediterranean, Jewish, or African ancestry. Basophilic stippling and accumulation of pyrimidines within erythrocytes are hallmarks of this disorder.|NCI|N|
C0340970|A rare congenital disorder characterized by mild or severe reduction of neutrophils in the peripheral blood and recurrent infantile infections.|NCI|N|
C0340971|A type of neutropenia that is observed in the presence of granulocyte-specific antibodies.|HPO|N|
C0340978|An autosomal dominant disorder characterized by the triad of thrombocytopenia, giant platelets, and characteristic inclusions in peripheral blood leukocytes. It is characterized by varying degrees of thrombocytopenia that may be associated with purpura and bleeding; it is associated with mutation of the MYH9 gene.|NCI|N|
C0341007|Any abnormality of the alveolar ridges (on the upper or lower jaws). The alveolar ridges contain the sockets (alveoli) of the teeth.|HPO|N|
C0341011|A capillary hemangioma arising from the lip and presenting as a papular lesion.|NCI|N|
C0341024|Familial candidiasis is an inherited tendency to develop infections caused by a type of fungus called Candida. Affected individuals typically have infections of the skin, the nails, and the moist lining of body cavities (mucous membranes). These infections are recurrent and persistent, which means they come back repeatedly and can last a long time. This pattern of infection is called chronic mucocutaneous candidiasis.\n\nCandida is commonly present on the skin and on the mucous membranes, and in most people usually causes no health problems. However, certain medications (such as antibiotics and corticosteroids) and other factors can lead to occasional overgrowth of Candida (candidiasis) in the mouth (where it is known as thrush) or in the vagina. These episodes, commonly called yeast infections, usually last only a short time before being cleared by a healthy immune system.\n\nMost people with familial candidiasis have chronic or recurrent yeast infections that begin in early childhood. Skin infections lead to a rash with crusty, thickened patches; when these patches occur on the scalp, they can cause loss of hair in the affected area (scarring alopecia). Candidiasis of the nails can result in thick, cracked, and discolored nails and swelling and redness of the surrounding skin. Thrush and gastrointestinal symptoms such as bloating, constipation, or diarrhea are common in affected individuals. Women with familial candidiasis can develop frequent vaginal yeast infections, and infants can have yeast infections on the skin that cause persistent diaper rash.\n\nDepending on the genetic change involved in this condition, some affected individuals are at risk for developing systemic candidiasis, a more severe condition in which the infection spreads through the bloodstream to various organs including the brain and the meninges, which are the membranes covering the brain and spinal cord. Systemic candidiasis can be life-threatening.\n\nChronic or recurrent yeast infections can occur in people without familial candidiasis. Some individuals experience recurrent candidiasis as part of a general susceptibility to infections because their immune systems are impaired by a disease such as acquired immune deficiency syndrome (AIDS) or severe combined immunodeficiency (SCID), medications, or other factors. Other individuals have syndromes such as autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) or autosomal dominant hyper-IgE syndrome (AD-HIES) that include a tendency to develop candidiasis along with other signs and symptoms affecting various organs and systems of the body.|MedlinePlus Genetics|N|
C0341037|A developmental odontogenic cyst lined by non-keratinized epithelium, occurring on the lateral aspect or between the roots of erupted teeth. (WHO 2017)|NCI|N|
C0341047|Increased size of the parotid gland.|HPO|N|
C0341059|A depression located on a lip.|HPO|N|
C0341106|Allergic inflammation of the esophagus. Morphologically, it is characterized by the presence of eosinophils infiltrating the esophageal epithelium. Patients present with swallowing difficulty and heartburn.|NCI|N|
C0341108|An acute bacterial infection that affects the esophagus. Symptoms include severe pain on swallowing and retrosternal pain. Endoscopic examination reveals esophageal mucosal ulcerations and pseudomembranous formations.|NCI|N|
C0341109|Infection of the esophagus caused by fungi, most often candida albicans and candida tropicalis. It usually affects patients with immunodeficiency disorders or diabetes mellitus. Symptoms include dysphagia and pain on swallowing.|NCI|N|
C0341110|Viral infection of the esophagus. It often occurs in immunocompromised patients and it is caused by cytomegalovirus or herpes simplex virus. Symptoms include pain on swallowing, fever, and retrosternal burning.|NCI|N|
C0341116|An Crohn disease involving a pathogenic inflammatory response in the esophagus.|MONDO|N|
C0341217|Dieulafoy lesion is an abnormally large artery (a vessel that takes blood from the heart to other areas of the body) in the lining of the gastrointestinal system. It is most common in the stomach but can occur in other locations, including the small and large intestine. Dieulafoy lesions can cause severe and sudden gastrointestinal bleeding. The condition occurs in people of all ages, but is more common in males than in females.Depending upon the site of the bleeding, symptoms may include vomiting up blood (hematemesis); sticky, dark-colored stools (melena); passage of fresh blood in the stool (hematochezia); or coughing up blood (hemoptysis). Some affected individuals may only present with blood pressure problems. Treatment may include endoscopic and/or surgical techniques. Though treatment can be effective, Dieulafoy lesions and the associated blood loss can be fatal, especially if not diagnosed and treated promptly.|MONDO|N|
C0341221|A necrotic process affecting the gastric wall.|NCI|N|
C0341225|A non-neoplastic polyp that arises from the stomach and is characterized by the presence of connective tissue stroma overgrowth and cystic formations.|NCI|N|
C0341253|A rare hyperplastic lesion of Brunner''s gland in the duodenum. Although it is usually asymptomatic and discovered incidentally during upper gastrointestinal endoscopy, it may cause hemorrhage.|NCI|N|
C0341268|A disease that involves the small intestine.|MONDO|N|
C0341273|A rare life threatening disorder characterised by infection of the submucosal and muscular layers of the gastrointestinal tract.|SNOMEDCT_US|N|
C0341276|Inflammation of the lining of the middle section of the small intestine.|HPO|N|
C0341299|A rare disorder affecting the digestive tract. Its cause is unclear but may be attributed, in part, to increased collagen synthesis without adequate fibrolysis. It is characterized histologically by atrophy of mucosal villi and crypts with extensive subepithelial collagen deposition. Clinical signs include nausea, vomiting, diarrhea and weight loss. Unlike celiac sprue (celiac disease), a gluten-free diet does not predict a certain regression of the disease. The clinical course follows a progression of malabsorption leading to nutritional deficiencies, small bowel ulceration/perforation, lymphoma and infection. Prognosis is usually dismal.|NCI|N|
C0341305|Severe-immune mediated enteropathy describes a variety of intestinal disorders that can range from a serious, early-onset systemic disease (IPEX; see this term) to a mild isolated gastrointestinal disease. In children it manifests with severe diarrhea and dehydration in the presence of characteristic antibodies (anti-enterocyte and anti-goblet cell) and in adults with chronic diarrhea, malabsorption and weight loss.|ORDO|N|
C0341306|Diarrhea-2 with microvillus atrophy, with or without cholestasis (DIAR2) is characterized by onset of intractable life-threatening watery diarrhea during infancy. Two forms are recognized: early-onset microvillus inclusion disease (MVID) with diarrhea beginning in the neonatal period, and late-onset, with first symptoms appearing after 3 or 4 months of life. Definite diagnosis is made by transmission electron microscopy demonstrating shortening or absence of apical microvilli with pathognomonic microvillus inclusions in mature enterocytes and peripheral accumulation of periodic acid-Schiff (PAS)-positive granules or vesicles in immature enterocytes (Muller et al., 2008). The natural course of MVID is often fatal, but partial or total weaning from parenteral nutrition has been described.
For a discussion of genetic heterogeneity of diarrhea, see DIAR1 (214700).|OMIM|N|
C0341318|An abnormal connection (fistula) between the intra-abdominal intestinal tract and the skin.|HPO|N|
C0341321|A disease that involves the large intestine.|MONDO|N|
C0341325|The presence of a painless whitish patch on the anal mucosa. Histologic examination reveals hyperkeratosis and acanthosis.|NCI|N|
C0341332|It describes patients in whom a diagnosis of ulcerative colitis or Crohn's disease cannot be made based on standard clinical testing, including colonoscopy, imaging, laboratory tests, and biopsy.|MONDO|N|
C0341335|A form of cytomegalovirus infection characterized by infection and inflammation of the colon.|HPO|N|
C0341339|Inflammation of the colon resulting from irradiation.|NCI|N|
C0341365|An abnormal communication between the large intestine and another organ or cavity.|NCI|N|
C0341384|An abscess contained between the internal and external anal sphincters.|MONDO|N|
C0341395|An Crohn disease involving a pathogenic inflammatory response in the anal canal.|MONDO|N|
C0341402|A hole (perforation) in the wall of the rectum.|HPO|N|
C0341439|Hepatic necrosis, inflammation, or scarring due to any cause that persists for more than 6 months. Manifestations may include signs and symptoms of cholestasis, portal hypertension, and/or abnormal liver function tests.|NCI|N|
C0341480|A rare pancreatic disease characterized by a most commonly single, unilocular, thin-walled cystic lesion which may be located anywhere within the pancreas (but is more frequently found in the body and tail) and does not communicate with the pancreatic ductal system. Patients may be asymptomatic or present with signs and symptoms of gastrointestinal or biliary obstruction, or pancreatitis. The condition can be isolated or occur in association with other anomalies (such as von Hippel-Lindau disease or polycystic kidney disease).|ORDO|N|
C0341486|A non-metastasizing cystic epithelial neoplasm arising from the exocrine pancreas.|NCI|N|
C0341492|A concretion in the pancreatic duct.|NCI|N|
C0341498|Leakage due to breakdown of a pancreatic anastomosis.|NCI|N|
C0341503|Peritonitis that is caused by a bacterial infection.|NCI|N|
C0341531|Infantile Hydrocele is a type pf hydrocele in which the processus vaginalis gets obliterated at the level of the deep inguinal ring. However, the portion distal to it remains patent and allows fluid accumulation.|HPO|N|
C0341532|A type of hydrocele testis in which both the proximal and distal portions of processus vaginalis get obliterated while the central portion remains patent and fluid accumulates within it.|HPO|N|
C0341562|Leakage due to breakdown of a gastrointestinal anastomosis.|NCI|N|
C0341563|Leakage due to breakdown of an esophageal anastomosis.|NCI|N|
C0341564|Leakage due to breakdown of a gastric anastomosis.|NCI|N|
C0341583|Luminal narrowing at the site of surgical resection and reconstruction of the esophagus.|NCI|N|
C0341676|The presence of dilatation of the renal pelvis.|HPO|N|
C0341677|Any disease in which the causes of the disease is a perturbation of the kidney leading to its dysfunction.|MONDO|N|
C0341689|An acute inflammation of the glomeruli, in which all glomeruli are affected, resulting in acute renal failure.|NCI|N|
C0341692|Inflammation of the glomeruli status post infection with nephritogenic streptococci, most often group A beta hemolytic streptococcus.|MONDO|N|
C0341694|Chronic form of rapidly progressive glomerulonephritis.|MONDO|N|
C0341698|Atrophy of the kidney.|HPO|N|
C0341702|Fanconi Syndrome caused by exposure to noxious agents.|NCI|N|
C0341703|An inability of the tubules in the kidney to reabsorb small molecules, causing increased urinary loss of electrolytes (sodium, potassium, bicarbonate), minerals, glucose, amino acids, and water.|HPO|N|
C0341712|Urolithiasis in which the composition of the stones is predominantly urate.|MONDO|N|
C0341714|A lymphoma that arises from the kidney. There is no evidence of a systemic lymphoproliferative disorder.|NCI|N|
C0341733|An cystitis caused by infection with Trichomonas vaginalis.|MONDO|N|
C0341747|A urodynamic anomaly characterized by bladder outlet obstruction from detrusor muscle contraction with concomitant involuntary urethral sphincter activation.|HPO|N|
C0341750|Bleeding originating from the urinary bladder wall.|NCI|N|
C0341755|An prostatitis (disease) caused by infection with Neisseria gonorrhoeae.|MONDO|N|
C0341766|A neoplasm (disease) that involves the paraurethral gland.|MONDO|N|
C0341767|A benign or malignant neoplasm that affects the seminal vesicle. Representative examples include cystadenoma and adenocarcinoma.|NCI|N|
C0341787|Midline indentation or cleft of the scrotum.|HPO|N|
C0341789|A firm nodule on the skin of the scrotum that is caused by an accumulation of sebum resulting from sebaceous gland blockage.|NCI|N|
C0341790|A tumor (abnormal growth of tissue) of the scrotum.|HPO|N|
C0341811|An salpingitis caused by infection with Neisseria gonorrhoeae.|MONDO|N|
C0341823|A benign, borderline, or malignant tumor that originates from the surface epithelium of the ovary. It is composed of epithelial cells and stroma. Representative examples of benign tumors include serous cystadenoma, mucinous cystadenoma, and benign Brenner tumor. Representative examples of borderline tumors include serous surface papillary tumor, mucinous adenofibroma, and borderline Brenner tumor. Representative examples of malignant tumors include serous adenocarcinoma, mucinous adenocarcinoma, endometrioid adenocarcinoma, and malignant Brenner tumor.|NCI|N|
C0341851|A benign human papillomavirus-related neoplasm that arises from the vulva. It is characterized by the presence of papillary structures with fibrovascular cores covered by stratified squamous epithelium showing koilocytotic changes.|NCI|N|
C0341934|HYPERTENSION that develops as a result of PREGNANCY and regresses post partum. It is hypertension without PROTEINURIA or pathological EDEMA.|MSH|N|
C0341950|Preeclampsia with a systolic blood pressure of 160 mmHg or higher, or a diastolic blood pressure of 110 mmHg or higher on two occasions at least 4 hours apart while on bedrest. It is associated with thrombocytopenia (platelets less than 100,000 per microliter), impaired liver function (twice normal elevation of hepatic transaminases; severe, persistent right upper quadrant or epigastric pain), progressive renal insufficiency (serum creatinine greater than 1.1 mg/dL or doubling of baseline in the absence of other renal disease), pulmonary edema, or new-onset cerebral or visual disturbances.|NCI|N|
C0341966|A vascular disease that is characterized by severe supine hypotension in late pregnancy, whose clinical presentation ranges from minimal cardiovascular alterations to severe shock, resulting from inferior vena cava compression by gravid uterus.|MONDO|N|
C0342102|A congenital or acquired deformity of the nipple.|NCI|N|
C0342114|Enlargement of the entire thyroid gland without discrete mass(es).|NCI|N|
C0342124|Severe, transient hyperthyroidism associated with Hashimoto thyroiditis.|NCI|N|
C0342127|Nodular enlargement of the thyroid gland associated with hyperthyroidism.|NCI|N|
C0342142|Iodine-induced hyperthyroidism.|NCI|N|
C0342153|Incomplete development of the thyroid gland in a newborn.|NCI|N|
C0342155|Thyroid hormone deficiency present at birth that is associated with ectopic thyroid tissue located in the neck region.|NCI|N|
C0342174|A rare disorder characterized by the development of an abscess in the thyroid gland. It usually follows an upper respiratory tract, pharyngeal, or middle ear infection. It is usually caused by Staphylococcus or Streptococcus infection. It presents with fever, pain, and neck mass.|NCI|N|
C0342185|Familial dysalbuminemic hyperthyroxinemia (FDAH) is an autosomal dominant condition characterized by the presence of a variant serum albumin with preferential affinity for thyroxine (T4) in clinically euthyroid individuals. Individuals have consistently elevated total T4 and elevated or normal free T4 values with normal TSH levels. FDAH is the most commonly inherited euthyroid hyperthyroxinemia in Caucasian populations with an estimated prevalence of 1 in 10,000 individuals. The condition does not cause disease since the concentration of free hormone is normal, but affected individuals may be at risk for unnecessary laboratory testing and possibly even inappropriate treatment (summary by Heufelder et al., 1995 and Kragh-Hansen et al., 2017).|OMIM|N|
C0342190|An abnormal growth of parafollicular (C-cells) cells.|HPO|N|
C0342194|Kanou et al. (2007) reviewed characteristics of thyroid dyshormonogenesis caused by mutations in the thyroglobulin (TG) gene. This form of thyroid dyshormonogenesis has an estimated prevalence of one in 100,000 newborns. Inherited in an autosomal recessive manner, the disorder in the majority of patients causes large goiters of elastic and soft consistency. Although the degree of thyroid dysfunction varies considerably among patients with defective TG synthesis, patients usually have a relatively high serum free T3 concentration with disproportionately low free T4 level. The maintenance of relatively high FT3 levels prevents profound tissue hypothyroidism except in brain and pituitary, which are dependent on T4 supply, resulting in neurologic and intellectual defects in some cases.|OMIM|N|
C0342195|Presumed loss-of-function mutation(s) in the IYD gene, resulting in reduced activity of the enzyme iodotyrosine deiodinase.|NCI|N|
C0342196|Signs and symptoms of congenital hypothyroidism result from the shortage of thyroid hormones. Affected babies may show no features of the condition, although some babies with congenital hypothyroidism are less active and sleep more than normal. They may have difficulty feeding and experience constipation. If untreated, congenital hypothyroidism can lead to intellectual disability and slow growth. In the United States and many other countries, all hospitals test newborns for congenital hypothyroidism. If treatment begins in the first two weeks after birth, infants usually develop normally.\n\nCongenital hypothyroidism occurs when the thyroid gland fails to develop or function properly. In 80 to 85 percent of cases, the thyroid gland is absent, severely reduced in size (hypoplastic), or abnormally located. These cases are classified as thyroid dysgenesis. In the remainder of cases, a normal-sized or enlarged thyroid gland (goiter) is present, but production of thyroid hormones is decreased or absent. Most of these cases occur when one of several steps in the hormone synthesis process is impaired; these cases are classified as thyroid dyshormonogenesis. Less commonly, reduction or absence of thyroid hormone production is caused by impaired stimulation of the production process (which is normally done by a structure at the base of the brain called the pituitary gland), even though the process itself is unimpaired. These cases are classified as central (or pituitary) hypothyroidism.\n\nCongenital hypothyroidism can also occur as part of syndromes that affect other organs and tissues in the body. These forms of the condition are described as syndromic. Some common forms of syndromic hypothyroidism include Pendred syndrome, Bamforth-Lazarus syndrome, and brain-lung-thyroid syndrome.\n\nCongenital hypothyroidism is a partial or complete loss of function of the thyroid gland (hypothyroidism) that affects infants from birth (congenital). The thyroid gland is a butterfly-shaped tissue in the lower neck. It makes iodine-containing hormones that play an important role in regulating growth, brain development, and the rate of chemical reactions in the body (metabolism). People with congenital hypothyroidism have lower-than-normal levels of these important hormones.|MedlinePlus Genetics|N|
C0342198|A condition in which the pituitary gland is partially resistant to thyroid hormone, so that it continues to secrete thyroid-stimulating hormone (TSH) until the blood level of thyroid hormone rises higher than normal.|HPO|N|
C0342200|Severely reduced physical and mental growth associated with pyramidal and extrapyramidal signs and symptoms, due to dietary iodine deficiency.|NCI|N|
C0342205|Enlargement of the thyroid gland related to a singular nodule in the thyroid gland.|HPO|N|
C0342208|Enlargement of the thyroid gland related to multiple nodules in the thyroid gland.|HPO|N|
C0342218|Abnormally high levels of glucagon in the blood, which may manifest as hyperglycemia and/or necrolytic migratory erythema.|NCI|N|
C0342219|Impaired pancreatic secretion of glucagon that results in severely low blood glucose.|NCI|N|
C0342245|A group of disorders affecting the eye in patients with diabetes mellitus. It includes cataract, glaucoma, retinopathy, and blindness.|NCI|N|
C0342257|Organ or tissue damage due to diabetes mellitus. It includes heart disease and stroke, renal disease and renal failure, retinopathy, neuropathies, and erectile dysfunction.|NCI|N|
C0342273|Hyperglycemia in the first month of life due to a genetically determined defect in the structure, secretion and/or function of insulin that resolves spontaneously within nine months of onset.|NCI|N|
C0342276|Maturity-onset diabetes of the young is an autosomal dominant form of diabetes typically occurring before 25 years of age and caused by primary insulin secretion defects. Despite its low prevalence, MODY is not a single entity but represents genetic, metabolic, and clinical heterogeneity (Vaxillaire and Froguel, 2008).
Genetic Heterogeneity of MODY
MODY1 (125850) is caused by heterozygous mutation in the hepatocyte nuclear factor-4-alpha gene (HNF4A; 600281) on chromosome 20.
MODY2 (125851) is caused by heterozygous mutation in the glucokinase gene (GCK; 138079) on chromosome 7.
MODY3 (600496) is caused by heterozygous mutation in the hepatocyte nuclear factor-1alpha gene (HNF1A; 142410) on chromosome 12q24.
MODY4 (606392) is caused by heterozygous mutation in the pancreas/duodenum homeobox protein-1 gene (PDX1; 600733) on chromosome 13q12.
MODY5 (137920) is caused by heterozygous mutation in the gene encoding hepatic transcription factor-2 (TCF2; 189907) on chromosome 17q12.
MODY6 (606394) is caused by heterozygous mutation in the NEUROD1 gene (601724) on chromosome 2q31.
MODY7 (610508) is caused by heterozygous mutation in the KLF11 gene (603301) on chromosome 2p25.
MODY8 (609812), or diabetes-pancreatic exocrine dysfunction syndrome, is caused by heterozygous mutation in the CEL gene (114840) on chromosome 9q34.
MODY9 (612225) is caused by heterozygous mutation in the PAX4 gene (167413) on chromosome 7q32.
MODY10 (613370) is caused by heterozygous mutation in the insulin gene (INS; 176730) on chromosome 11p15.
MODY11 (613375) is caused by heterozygous mutation in the BLK gene (191305) on chromosome 8p23.
MODY13 (616329) is caused by heterozygous mutation in the KCNJ11 gene (600937) on chromosome 11p15.
MODY14 (616511) is caused by heterozygous mutation in the APPL1 gene (604299) on chromosome 3p14.|OMIM|N|
C0342277|MODY is a form of NIDDM (125853) characterized by monogenic autosomal dominant transmission and early age of onset. For a general phenotypic description and a discussion of genetic heterogeneity of MODY, see 606391.
In a review of the various forms of MODY, Fajans et al. (2001) stated that glucokinase-related MODY2 is a common form of the disorder, especially in children with mild hyperglycemia and in women with gestational diabetes and a family history of diabetes. It has been described in persons of all racial and ethnic groups. More than 130 MODY-associated mutations have been found in the glucokinase gene. Heterozygous mutations in glucokinase are associated with a mild form of nonprogressive hyperglycemia that is usually asymptomatic at diagnosis and is treated with diet alone. The mild fasting hyperglycemia with blood glucose concentrations of 110 to 145 mg/deciliter and impaired glucose tolerance in most affected carriers may be recognized by biochemical testing at a young age, possibly as early as birth. About 50% of the women who are carriers may have gestational diabetes. Less than 50% of the carriers have overt diabetes; many of those who do are obese or elderly. Two percent of MODY2 patients require insulin therapy. Diabetes-associated complications are rare in this form of MODY. MODY was found in 13% of the Caucasian NIDDM families collected in France by Froguel et al. (1991). Gidh-Jain et al. (1993) found that GCK mutations accounted for 56% of MODY families in France.|OMIM|N|
C0342278|Type A insulin resistance syndrome is a rare disorder characterized by severe insulin resistance, a condition in which the body's tissues and organs do not respond properly to the hormone insulin. Insulin normally helps regulate blood sugar levels by controlling how much sugar (in the form of glucose) is passed from the bloodstream into cells to be used as energy. In people with type A insulin resistance syndrome, insulin resistance impairs blood glucose regulation and ultimately leads to a condition called diabetes mellitus, in which blood glucose levels can become dangerously high.\n\nSevere insulin resistance also underlies the other signs and symptoms of type A insulin resistance syndrome. In affected females, the major features of the condition become apparent in adolescence. Many affected females do not begin menstruation by age 16 (primary amenorrhea) or their periods may be light and irregular (oligomenorrhea). They develop cysts on the ovaries and excessive body hair growth (hirsutism). Most affected females also develop a skin condition called acanthosis nigricans, in which the skin in body folds and creases becomes thick, dark, and velvety. Unlike most people with insulin resistance, females with type A insulin resistance syndrome are usually not overweight.\n\nThe features of type A insulin resistance syndrome are more subtle in affected males. Some males have low blood glucose (hypoglycemia) as the only sign; others may also have acanthosis nigricans. In many cases, males with this condition come to medical attention only when they develop diabetes mellitus in adulthood.\n\nType A insulin resistance syndrome is one of a group of related conditions described as inherited severe insulin resistance syndromes. These disorders, which also include Donohue syndrome and Rabson-Mendenhall syndrome, are considered part of a spectrum. Type A insulin resistance syndrome represents the mildest end of the spectrum: its features often do not become apparent until puberty or later, and it is generally not life-threatening.|MedlinePlus Genetics|N|
C0342280|A rare genetic disease characterized by lipoatrophic diabetes, mild craniofacial dysmorphism (such as pronounced antitragal incisura and mandibular prognathism), ectodermal dysplasia (generalized hypotrichosis and dental and nail abnormalities), hypoplasia or aplasia of the breasts, and urogenital/renal anomalies. Additional reported manifestations include skeletal abnormalities and hepatosplenomegaly.|ORDO|N|
C0342281|A rare hereditary ataxia with characteristics of neurogenic muscular atrophy associated with signs of cerebellar ataxia, degeneration of the retina and diabetes mellitus. Onset of the disease is in adolescence and the course is slowly progressive.|SNOMEDCT_US|N|
C0342282|Multiple synostoses syndrome is characterized by multiple joint fusions, usually commencing in the hands, conductive deafness, and characteristic facial features, including a broad, tubular-shaped nose and a thin upper vermilion. Other features include brachydactyly, hypoplastic or absent middle phalanges, radial head dislocation, and pectus carinatum (summary by Takahashi et al., 2001).
Genetic Heterogeneity of Multiple Synostoses Syndrome
Other forms of multiple synostoses syndrome include SYNS2 (610017), caused by mutation in the GDF5 gene (601146) on chromosome 20q11; SYNS3 (612961), caused by mutation in the FGF9 gene (600921) on chromosome 13q12; and SYNS4 (617898), caused by mutation in the GDF6 gene (601147) on chromosome 8q22.|OMIM|N|
C0342283|Insulin (INS; 176730) is produced posttranslationally from its precursor molecule, proinsulin, by site-directed proteolysis in beta-cell granules. Conversion involves cleavage at pairs of basic residues that link both the insulin A and B chains to C-peptide. Human proinsulin conversion has a preferred sequential route, such that cleavage at the B-chain/C-peptide junction occurs first, producing des-31,32 split proinsulin as the major conversion intermediate. Under normal circumstances, proinsulin conversion is largely completed before secretion, and low plasma levels of intact proinsulin and conversion intermediates are found. Structural abnormalities in the proinsulin molecule can impair conversion, leading to the accumulation of proinsulin-like material in the circulation. Such defects show an autosomal dominant mode of inheritance and are the main cause of familial hyperproinsulinemia (summary by Warren-Perry et al., 1997).|OMIM|N|
C0342284|Bangstad syndrome is a rare endocrine disease characterized by the association of primordial birdheaded nanism, progressive ataxia, goiter, primary gonadal insufficiency and insulin resistant diabetes mellitus. Plasma concentrations of TSH, PTH, LH, FSH, ACTH, glucagon, and insulin are usually elevated. A generalized cell membrane defect was suggested to be the pathophysiological abnormality in these patients. The mode of inheritance was thought to be autosomal recessive. There have been no further descriptions in the literature since 1989.|ORDO|N|
C0342286|Virtually all individuals with Woodhouse-Sakati syndrome (WSS) have the endocrine findings of hypogonadism (evident at puberty) and progressive childhood-onset hair thinning that often progresses to alopecia totalis in adulthood. More than half of individuals have the neurologic findings of progressive extrapyramidal movements (dystonic spasms with dystonic posturing with dysarthria and dysphagia), moderate bilateral postlingual sensorineural hearing loss, and mild intellectual disability. To date, more than 40 families (including 33 with a molecularly confirmed diagnosis) with a total of 88 affected individuals have been reported in the literature.|GeneReviews|N|
C0342287|Thiamine-responsive megaloblastic anemia syndrome (TRMA) is characterized by megaloblastic anemia, progressive sensorineural hearing loss, and diabetes mellitus. Onset of megaloblastic anemia occurs between infancy and adolescence. The anemia is corrected with thiamine treatment, but the red cells remain macrocytic and anemia can recur if treatment is withdrawn. Progressive sensorineural hearing loss often occurs early and can be detected in toddlers; hearing loss is irreversible and may not be prevented by thiamine treatment. The diabetes mellitus is non-type I in nature, with age of onset from infancy to adolescence. Thiamine treatment may reduce insulin requirement and delay onset of diabetes in some individuals.|GeneReviews|N|
C0342288|IPEX (immune dysregulation, polyendocrinopathy, enteropathy, X-linked) syndrome is characterized by systemic autoimmunity, typically beginning in the first year of life. Presentation is most commonly the clinical triad of watery diarrhea, endocrinopathy (most commonly insulin-dependent diabetes mellitus), and eczematous dermatitis. Most children have other autoimmune phenomena including cytopenias, autoimmune hepatitis, or nephropathy; lymphadenopathy, splenomegaly, alopecia, arthritis, and lung disease related to immune dysregulation have all been observed. Fetal presentation of IPEX includes hydrops, echogenic bowel, skin desquamation, IUGR, and fetal akinesia. Without aggressive immunosuppression or bone marrow transplantation, the majority of affected males die within the first one to two years of life from metabolic derangements, severe malabsorption, or sepsis; a few with a milder phenotype have survived into the second or third decade of life.|GeneReviews|N|
C0342289|Maternally inherited diabetes-deafness syndrome (MIDD) is a mitochondrial disorder characterized by onset of sensorineural hearing loss and diabetes in adulthood. Some patients may have additional features observed in mitochondrial disorders, including pigmentary retinopathy, ptosis, cardiomyopathy, myopathy, renal problems, and neuropsychiatric symptoms (Ballinger et al., 1992; Reardon et al., 1992; Guillausseau et al., 2001).
The association of diabetes and deafness is observed with Wolfram syndrome (see 222300), Rogers syndrome (249270), and Herrmann syndrome (172500), but all 3 of these disorders have other clinical manifestations.|OMIM|N|
C0342302|Frequent, clinically significant fluctuations in blood glucose levels both above and below levels expected to be achieved by available therapies.|SNOMEDCT_US|N|
C0342336|A syndrome of insulin resistance caused by mutation(s) in the INSR gene, encoding the insulin receptor. This condition is characterized by a clinical triad of hyperinsulinemia, acanthosis nigricans, and hyperandrogenism without lipodystrophy. This is the least severe of a spectrum of disorders; the other two conditions are Rabson-Mendenhall Syndrome and Donohoe Syndrome.|NCI|N|
C0342337|A rare genetic disease that belongs to the group of extreme insulin-resistance syndromes and is due to autoantibodies directed against insulin receptor.|ORDO|N|
C0342342|A condition of low or absent PTH level and HYPOCALCEMIA. It usually occurs as part of an autoimmune syndrome.|MSH|N|
C0342344|A rare genetic hypoparathyroidism characterized by severe hypocalcemia, seizures, hyperphosphatemia, and undetectable parathyroid hormone levels, in the absence of parathyroid tissue. Complications include psychomotor and growth delay, delayed dentition, and cataracts.|ORDO|N|
C0342345|Autosomal dominant hypocalcemia-1 is associated with low or normal serum parathyroid hormone concentrations (PTH). Approximately 50% of patients have mild or asymptomatic hypocalcemia; about 50% have paresthesias, carpopedal spasm, and seizures; about 10% have hypercalciuria with nephrocalcinosis or kidney stones; and more than 35% have ectopic and basal ganglia calcifications (summary by Nesbit et al., 2013).
Thakker (2001) noted that patients with gain-of-function mutations in the CASR gene, resulting in generally asymptomatic hypocalcemia with hypercalciuria, have low-normal serum PTH concentrations and have often been diagnosed with hypoparathyroidism because of the insensitivity of earlier PTH assays. Because treatment with vitamin D to correct the hypocalcemia in these patients causes hypercalciuria, nephrocalcinosis, and renal impairment, these patients need to be distinguished from those with other forms of hypoparathyroidism (see 146200). Thakker (2001) suggested the designation 'autosomal dominant hypocalcemic hypercalciuria' for this CASR-related disorder.
Genetic Heterogeneity of Autosomal Dominant Hypocalcemia
Autosomal dominant hypocalcemia-2 (HYPOC2; 615361) is caused by mutation in the GNA11 gene (139313) on chromosome 19p13.|OMIM|N|
C0342347|An epithelium-lined, fluid-filled cyst containing parathyroid hormone that is usually located in an inferior parathyroid gland, but may be found in other locations in the neck or mediastinum.|NCI|N|
C0342382|Reduced spontaneous secretion of growth hormone with normal range response to growth hormone provocative stimuli.|NCI|N|
C0342384|Isolated gonadotropin-releasing hormone (GnRH) deficiency (IGD) is characterized by inappropriately low serum concentrations of the gonadotropins LH (luteinizing hormone) and FSH (follicle-stimulating hormone) in the presence of low circulating concentrations of sex steroids. IGD is associated with a normal sense of smell (normosmic IGD) in approximately 40% of affected individuals and an impaired sense of smell (Kallmann syndrome) in approximately 60%. IGD can first become apparent in infancy, adolescence, or adulthood. Infant boys with congenital IGD often have micropenis and cryptorchidism. Adolescents and adults with IGD have clinical evidence of hypogonadism and incomplete sexual maturation on physical examination. Adult males with IGD tend to have prepubertal testicular volume (i.e., <4 mL), absence of secondary sexual features (e.g., facial and axillary hair growth, deepening of the voice), decreased muscle mass, diminished libido, erectile dysfunction, and infertility. Adult females have little or no breast development and primary amenorrhea. Although skeletal maturation is delayed, the rate of linear growth is usually normal except for the absence of a distinct pubertal growth spurt.|GeneReviews|N|
C0342386|Subnormal concentration of follicle stimulating hormone.|NCI|N|
C0342387|Subnormal concentration of luteinizing hormone.|NCI|N|
C0342388|Congenital isolated adrenocorticotropic hormone deficiency (IAD) is characterized by severe hypoglycemia in the neonatal period, associated with seizures in about half of cases, prolonged cholestatic jaundice, and very low plasma ACTH levels with no significant response to corticotropin-releasing hormone (CRH; 122560). Plasma cortisol levels are also extremely low (Vallette-Kasic et al., 2005). TBX19 is required for initiation of transcription of the POMC gene (176830), which produces the precursor peptide from which ACTH is derived (Lamolet et al., 2001).|OMIM|N|
C0342394|Neurohypophyseal diabetes insipidus is an autosomal dominant disorder of free water conservation characterized by childhood onset of polyuria and polydipsia. Affected individuals are apparently normal at birth, but characteristically develop symptoms of vasopressin deficiency during childhood (summary by Wahlstrom et al., 2004).|OMIM|N|
C0342400|A rare, acquired, endocrine disorder characterized by deficiency of one or more of the pituitary hormones resulting as a consequence of traumatic or medically-induced injury of the pituitary gland. Clinical presentation is variable depending on the nature and acuity of the injury and the resulting order and amount of hormone deficiency.|ORDO|N|
C0342405|Ischemic necrosis of the pituitary gland.|NCI|N|
C0342406|Bleeding within the pituitary gland.|NCI|N|
C0342409|An inflammatory process in the pituitary gland.|NCI|N|
C0342410|An autoimmune condition affecting the pituitary gland, characterized by lymphocytic infiltration, commonly presenting with pituitary hormone deficiencies.|NCI|N|
C0342418|Pallister-Hall-like syndrome (PHLS) is a pleiotropic autosomal recessive disorder characterized by phenotypic variability. Patients exhibit postaxial polydactyly as well as hypothalamic hamartoma, cardiac and skeletal anomalies, and craniofacial dysmorphisms. Hirschsprung disease has also been observed (Rubino et al., 2018; Le et al., 2020).
Pallister-Hall syndrome (146510) is an autosomal dominant disorder with features overlapping those of PHLS, caused by mutation in the GLI3 gene (165240).|OMIM|N|
C0342420|A fluid-filled sacs that develop on or near the pituitary gland.|HPO|N|
C0342422|An abnormally increased size of the pituitary gland.|HPO|N|
C0342436|Diencephalic syndrome (DS) is a rare condition characterized by profound emaciation and failure to thrive (with normal caloric intake and normal linear growth), hyperalertness, hyperkinesia and euphoria, in the presence of hypothalamic tumors.|ORDO|N|
C0342442|A form of endogenous Cushing syndrome (CS) caused by abnormal production of ACTH due, in 80% of cases, to adrenocorticotropic hormone (ACTH) oversecretion by a pituitary adenoma (Cushing disease, CD) and in 20% of cases to ectopic ACTH secretion (CS due to EAS) by an extrapituitary tumor (in 50% of cases originating in the lungs or less commonly in the thymus, pancreas, adrenal gland or thyroid) or very rarely due to a tumor secreting both ACTH and corticotrophin-releasing hormone (CRH).|ORDO|N|
C0342467|A milder form of congenital adrenal hyperplasia characterized by decreased activity of an enzyme in the steroidogenic pathway, typically presenting later in life, that does not require life-long cortisol replacement.|NCI|N|
C0342471|Classic 3-beta-hydroxysteroid dehydrogenase deficiency is an autosomal recessive form of CAH characterized by a severe impairment of steroid biosynthesis in both the adrenals and the gonads, resulting in decreased excretion of cortisol and aldosterone and of progesterone, androgens, and estrogens by these tissues. Affected newborns exhibit signs and symptoms of glucocorticoid and mineralocorticoid deficiencies, which may be fatal if not diagnosed and treated early, especially in the severe salt-wasting form. Moreover, male newborns exhibit pseudohermaphroditism with incomplete masculinization of the external genitalia due to an impairment of androgen biosynthesis in the testis. In contrast, affected females exhibit normal sexual differentiation or partial virilization (summary by Rheaume et al., 1992).|OMIM|N|
C0342474|Lipoid congenital adrenal hyperplasia, the most severe disorder of steroid hormone biosynthesis, is caused by a defect in the conversion of cholesterol to pregnenolone, the first step in adrenal and gonadal steroidogenesis. All affected individuals are phenotypic females with a severe salt-losing syndrome that is fatal if not treated in early infancy (summary by Lin et al., 1991 and Bose et al., 1996).|OMIM|N|
C0342482|NR0B1-related adrenal hypoplasia congenita includes both X-linked adrenal hypoplasia congenita (X-linked AHC) and Xp21 deletion (previously called complex glycerol kinase deficiency). X-linked AHC is characterized by primary adrenal insufficiency and/or hypogonadotropic hypogonadism (HH). Adrenal insufficiency is acute infantile onset (average age 3 weeks) in approximately 60% of affected males and childhood onset (ages 1-9 years) in approximately 40%. HH typically manifests in a male with adrenal insufficiency as delayed puberty (i.e., onset age >14 years) and less commonly as arrested puberty at about Tanner Stage 3. Rarely, X-linked AHC manifests initially in early adulthood as delayed-onset adrenal insufficiency, partial HH, and/or infertility. Heterozygous females very occasionally have manifestations of adrenal insufficiency or hypogonadotropic hypogonadism. Xp21 deletion includes deletion of NR0B1 (causing X-linked AHC) and GK (causing glycerol kinase deficiency), and in some cases deletion of DMD (causing Duchenne muscular dystrophy). Developmental delay has been reported in males with Xp21 deletion when the deletion extends proximally to include DMD or when larger deletions extend distally to include IL1RAPL1 and DMD.|GeneReviews|N|
C0342483|Hypoaldosteronism characterized by impaired secretion of aldosterone, despite increased renin activity. This condition may be caused by chronic or critical illness, aldosterone synthase deficiency or other genetic conditions.|NCI|N|
C0342488|Apparent mineralocorticoid excess (AME) is an autosomal recessive form of low-renin hypertension associated with low aldosterone, metabolic alkalosis, hypernatremia, and hypokalemia. The disorder is due to a congenital defect in 11-beta-hydroxysteroid dehydrogenase type II (HSD11B2) activity, resulting in decreased conversion of biologically active cortisol to inactive cortisone; this defect allows cortisol to act as a ligand for the mineralocorticoid receptor, resulting in sodium retention and volume expansion. There is a favorable therapeutic response to spironolactone (review by Ferrari, 2010).|OMIM|N|
C0342494|A non-malignant growth, or enlargement, of the adrenal glands, specifically the cortex, although the cortex cannot be definitively identified by conventional imaging. Adrenal cortical hyperplasia is defined radiologically as a non-malignant growth, or enlargement, of the adrenal glands.|HPO|N|
C0342495|Adrenal hyperfunction associated with multiple bilateral adrenal nodules, usually more than one centimeter in diameter.|NCI|N|
C0342496|Adrenal hyperfunction associated with multiple bilateral adrenal nodules, usually less than one centimeter in diameter.|NCI|N|
C0342500|A swelling or enlargment localized to the adrenal gland. The word mass is usually used at an early stage of the diagnostic workup before the precise nature of the swelling has been determined.|HPO|N|
C0342501|A cyst located in the adrenal gland.|NCI|N|
C0342508|An autoimmune form of primary ovarian failure.|MONDO|N|
C0342526|Testis not palpable in the scrotum or inguinal canal.|HPO|N|
C0342527|Insufficient amount of androgenic activity.|HPO|N|
C0342538|Transient state of hypogonadotropic hypogonadism associated with prolongation of childhood phase of growth, delayed skeletal maturation, delayed and attenuated pubertal growth spurt, and relatively low insulin-like growth factor-1 secretion.|MONDO|N|
C0342541|The onset of growth of pubic hair at an earlier age than normal.|HPO|N|
C0342543|Central precocious puberty (CPP), also referred to as gonadotropin dependent precocious puberty, is an endocrine-related developmental disease characterized by the onset of pubertal changes, with development of secondary sexual characteristics and accelerated growth and bone maturation, before the normal age of puberty (8 years in girls and 9 years in boys).|ORDO|N|
C0342544|Central precocious puberty for which no underlying cause can be identified.|NCI|N|
C0342546|Onset of adrenarche at an earlier age than usual.|HPO|N|
C0342548|Occurrence of the first menstrual period in a female before the usual or expected age.|NCI|N|
C0342549|Familial male precocious puberty is a gonadotropin-independent disorder that is inherited in an autosomal dominant, male-limited pattern. Affected males generally exhibit signs of puberty by age 4 years (Shenker et al., 1993).|OMIM|N|
C0342552|A hypersensitivity reaction type II disease that involves the endocrine system.|MONDO|N|
C0342569|A life-threatening complication of carcinoid syndrome, and is generally found in people who already have carcinoid syndrome. The crisis may occur suddenly, or it can be associated with stress, chemotherapy, or anesthesia.|MONDO|N|
C0342573|Isolated growth hormone deficiency type IA is an autosomal recessive disorder characterized by severe growth failure (SDS less than -4.5) by 6 months of age, undetectable growth hormone (GH) concentrations, and a tendency to develop antibodies despite an initial good response to rhGH treatment (summary by Alatzoglou et al., 2014).
Genetic Heterogeneity of Isolated Growth Hormone Deficiency
See IGHD1B (617281) and IGHD2 (173100), both caused by mutation in the GH1 gene; IGHD3 (307200), caused by mutation in the BTK gene (300300); and IGHD4 (618157), caused by mutation in the GHRHR gene (139191).
Isolated growth hormone deficiency-5 (IGHD5) has been reclassified as combined pituitary hormone deficiency-7 (CPHD7; 618160).|OMIM|N|
C0342579|Higher or lower than normal values for the serum electrolytes; usually affecting NA, K, CHL, CO2, glucose, bun.|NCI|N|
C0342623|A common form of systemic amyloidosis characterized by deposition of wild type transthyretin predominantly in the heart and the soft tissues (mainly the carpal tunnel region, lumbar canal and tendons).|ORDO|N|
C0342637|Familial hypocalciuric hypercalcemia (HHC) is a heritable disorder of mineral homeostasis that is transmitted as an autosomal dominant trait with a high degree of penetrance. HHC is characterized biochemically by lifelong elevation of serum calcium concentrations and is associated with inappropriately low urinary calcium excretion and a normal or mildly elevated circulating parathyroid hormone (PTH; 168450) level. Hypermagnesemia is typically present. Individuals with HHC are usually asymptomatic and the disorder is considered benign. However, chondrocalcinosis and pancreatitis occur in some adults (summary by Hannan et al., 2010).
Characteristic features of familial hypocalciuric hypercalcemia include mild to moderate hypercalcemia, nonsuppressed parathyroid hormone, relative hypocalciuria while hypercalcemic (calcium/creatinine clearance ratio less than 0.01, or 24-hr urine calcium less than 6.25 mmol), almost 100% penetrance of hypercalcemia from birth, absence of complications, persistence of hypercalcemia following subtotal parathyroidectomy, and normal parathyroid size, weight, and histology at surgery. However, atypical presentations with severe hypercalcemia, hypercalciuria with or without nephrolithiasis or nephrocalcinosis, kindreds with affected members displaying either hypercalciuria or hypocalciuria, postoperative normocalcemia, and pancreatitis have all been described in FHH (Warner et al., 2004).
Genetic Heterogeneity of Hypocalciuric Hypercalcemia
Familial hypocalciuric hypercalcemia type II (HHC2; 145981) is caused by mutation in the GNA11 gene (139313) on chromosome 19p13, and HHC3 (600740) is caused by mutation in the AP2S1 gene (602242) on chromosome 19q13.|OMIM|N|
C0342642|Autosomal dominant hypophosphatemic rickets (ADHR) is characterized by isolated renal phosphate wasting, hypophosphatemia, and inappropriately normal 1,25-dihydroxyvitamin D3 (calcitriol) levels. Patients frequently present with bone pain, rickets, and tooth abscesses. In contrast to X-linked dominant hypophosphatemic rickets (XLH; 307800), ADHR shows incomplete penetrance, variable age at onset (childhood to adult), and resolution of the phosphate-wasting defect in rare cases (Econs et al., 1997).
See also hypophosphatemic bone disease (146350).
Genetic Heterogeneity of Hypophosphatemic Rickets
Other forms of hypophosphatemic rickets include autosomal recessive forms, i.e., ARHR1 (241520), caused by mutation in the DMP1 gene (600980) on chromosome 4q21, and ARHR2 (613312), caused by mutation in the ENPP1 gene (173335) on chromosome 6q23. An X-linked dominant form (XLHR; 307800) is caused by mutation in the PHEX gene (300550), and an X-linked recessive form (300554) is caused by mutation in the CLCN5 gene (300008).
Clinical Variability of Hypophosphatemic Rickets
Hypophosphatemic rickets can be caused by disorders of vitamin D metabolism or action (see VDDR1A, 264700). A form of hypophosphatemic rickets with hypercalciuria (HHRH; 241530) is caused by mutation in the SLC34A3 gene (609826), and there is evidence that a form of hypophosphatemic rickets with hyperparathyroidism (612089) may be caused by a translocation that results in an increase in alpha-klotho levels (KLOTHO; 604824).|OMIM|N|
C0342643|A rare, autosomal recessive renal phosphate-wasting disorder characterized by childhood-onset hypophosphatemia that clinically manifests with rickets and/or osteomalacia, slow growth/short stature, bone pain and skeletal deformities. Additional findings may include fatigue, muscle weakness and repeated bone fractures.|ORDO|N|
C0342646|Vitamin D-dependent rickets type 2A (VDDR2A) is caused by a defect in the vitamin D receptor gene. This defect leads to an increase in the circulating ligand, 1,25-dihydroxyvitamin D3. Most patients have total alopecia in addition to rickets.
VDDR2B (600785) is a form of vitamin D-dependent rickets with a phenotype similar to VDDR2A but a normal vitamin D receptor, in which end-organ resistance to vitamin D has been shown to be caused by a nuclear ribonucleoprotein that interferes with the vitamin D receptor-DNA interaction.
For a general phenotypic description and a discussion of genetic heterogeneity of rickets due to disorders in vitamin D metabolism or action, see vitamin D-dependent rickets type 1A (VDDR1A; 264700).|OMIM|N|
C0342648|Deposition of calcium in tissues outside of bone.|NCI|N|
C0342649|Abnormal calcification of the vasculature.|HPO|N|
C0342650|Calcified deposits in soft tissue structures outside a joint.|HPO|N|
C0342676|A disease that has its basis in the disruption of tetrahydrobiopterin metabolic process.|MONDO|N|
C0342678|An abnormally increased level of tyrosine in the urine.|HPO|N|
C0342683|Several additional types of this disorder have been proposed, each affecting one or a few families.\n\nOculocutaneous albinism is a group of conditions that affect coloring (pigmentation) of the skin, hair, and eyes. Affected individuals typically have very fair skin and white or light-colored hair. Long-term sun exposure greatly increases the risk of skin damage and skin cancers, including an aggressive form of skin cancer called melanoma, in people with this condition. Oculocutaneous albinism also reduces pigmentation of the colored part of the eye (the iris) and the light-sensitive tissue at the back of the eye (the retina). People with this condition usually have vision problems such as reduced sharpness; rapid, involuntary eye movements (nystagmus); and increased sensitivity to light (photophobia).\n\nResearchers have identified multiple types of oculocutaneous albinism, which are distinguished by their specific skin, hair, and eye color changes and by their genetic cause. Oculocutaneous albinism type 1 is characterized by white hair, very pale skin, and light-colored irises. Type 2 is typically less severe than type 1; the skin is usually a creamy white color and hair may be light yellow, blond, or light brown. Type 3 includes a form of albinism called rufous oculocutaneous albinism, which usually affects dark-skinned people. Affected individuals have reddish-brown skin, ginger or red hair, and hazel or brown irises. Type 3 is often associated with milder vision abnormalities than the other forms of oculocutaneous albinism. Type 4 has signs and symptoms similar to those seen with type 2.|MedlinePlus Genetics|N|
C0342684|Ocular albinism type I (OA1) is the most common form of ocular albinism. Clinical presentation of OA1 in Caucasians is characterized by nystagmus, impaired visual acuity, iris hypopigmentation with translucency, albinotic fundus, macular hypoplasia, and normally pigmented skin and hair. Carrier females usually have punctate iris translucency and a mottled pattern of fundus pigmentation. In contrast to Caucasian patients, black or Japanese patients with OA1 often have brown irides with little or no translucency and varying degrees of fundus hypopigmentation, the so-called 'nonalbinotic fundus' (summary by Xiao and Zhang, 2009).|OMIM|N|
C0342687|A very rare primary monoamine neurotransmitter synthesis disorder with norepinephrine and adrenaline deficiency that leads to young-onset severe orthostatic hypotension and eyelid ptosis.|ORPHANET|N|
C0342690|An inherited metabolic disease that is has its basis in the disruption of ornithine metabolic process.|MONDO|N|
C0342700|A rare, genetic, benign disorder of cobalamin transport, due to variable degrees of transcobalamin I deficiency, characterized by mildly low to almost undetectable plasma transcobalamin I levels and slighly low to absent serum cobalamin levels. Normal methylmalonic acid and homocysteine serum values and absence of megaloblastic anemia are reported. No specific clinical manifestations are associated and patients are typically asymptomatic.|ORDO|N|
C0342701|Transcobalamin II deficiency (TCN2D) is an autosomal recessive disorder with onset in early infancy characterized by failure to thrive, megaloblastic anemia, and pancytopenia. Other features include methylmalonic aciduria, recurrent infections, and vomiting and diarrhea. Treatment with cobalamin results in clinical improvement, but the untreated disorder may result in mental retardation and neurologic abnormalities (summary by Haberle et al., 2009).
Hall (1981) gave a clinically oriented review of congenital defects of vitamin B12 transport, and Frater-Schroder (1983) gave a genetically oriented review.|OMIM|N|
C0342705|Hereditary folate malabsorption (HFM) is characterized by folate deficiency due to impaired intestinal folate absorption and impaired folate transport into the central nervous system. Findings include poor feeding, failure to thrive, and anemia. There can be leukopenia and thrombocytopenia, diarrhea and/or oral mucositis, hypoimmunoglobulinemia, and other immunologic dysfunction resulting in infections, most often Pneumocystis jirovecii pneumonia. Neurologic manifestations include developmental delays, cognitive and motor disorders, behavioral disorders, and seizures.|GeneReviews|N|
C0342708|GABA-transaminase deficiency (GABATD) is characterized by neonatal or early infantile-onset encephalopathy, hypotonia, hypersomnolence, epilepsy, choreoathetosis, and accelerated linear growth. Electroencephalograms show burst-suppression, modified hypsarrhythmia, multifocal spikes, and generalized spike-wave. Severity varies, but most patients have profound developmental impairment and some patients die in infancy (summary by Koenig et al., 2017).|OMIM|N|
C0342712|An inherited metabolic disease that is has its basis in the disruption of branched-chain amino acid metabolic process.|MONDO|N|
C0342718|Vitamin B12-unresponsive methylmalonic acidemia type mut0 is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12.|ORDO|N|
C0342719|Vitamin B12-unresponsive methylmalonic acidemia type mut- is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12.|ORDO|N|
C0342720|An inborn error of vitamin B12 (cobalamin) metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which responds to vitamin B12. There are three types: <i>cblA, cblB</i> and <i>cblD</i>-variant 2 (<i>cblD</i>v2).|ORDO|N|
C0342727|3-methylglutaconyl-CoA hydratase deficiency is an inherited condition that causes neurological problems. Beginning in infancy to early childhood, children with this condition often have delayed development of mental and motor skills (psychomotor delay), speech delay, involuntary muscle cramping (dystonia), and spasms and weakness of the arms and legs (spastic quadriparesis). Affected individuals can also have optic atrophy, which is the breakdown (atrophy) of nerve cells that carry visual information from the eyes to the brain.\n\nIn some cases, signs and symptoms of 3-methylglutaconyl-CoA hydratase deficiency begin in adulthood, often in a person's twenties or thirties. These individuals have damage to a type of brain tissue called white matter (leukoencephalopathy). This damage likely contributes to progressive problems with speech (dysarthria), difficulty coordinating movements (ataxia), stiffness (spasticity), optic atrophy, and a decline in intellectual function (dementia).\n\nAffected individuals who show symptoms of 3-methylglutaconyl-CoA hydratase deficiency in childhood often go on to develop leukoencephalopathy and other neurological problems in adulthood.\n\nAll people with 3-methylglutaconyl-CoA hydratase deficiency accumulate large amounts of a substance called 3-methylglutaconic acid in their body fluids. As a result, they have elevated levels of acid in their blood (metabolic acidosis) and excrete large amounts of acid in their urine (aciduria). 3-methylglutaconyl-CoA hydratase deficiency is one of a group of metabolic disorders that can be diagnosed by the presence of increased levels 3-methylglutaconic acid in urine (3-methylglutaconic aciduria). People with 3-methylglutaconyl-CoA hydratase deficiency also have high urine levels of another acid called 3-methylglutaric acid.|MedlinePlus Genetics|N|
C0342731|A rare inborn error of metabolism characterized by a spectrum of presentation ranging from hyperimmunoglobulinemia D with periodic fever (HIDS) to mevalonic aciduria.|ORDO|N|
C0342737|A rare classic organic aciduria characterized by tissue accumulation and elevation of urinary excretion of 3-hydroxyisobutyric acid. The clinical phenotype ranges from recurrent mild episodes of vomiting with normal cognitive development, to massive acidosis, seizures, and failure to thrive with profound intellectual disability and early death. Dysmorphic craniofacial features (such as microcephaly, triangular face, short, sloping forehead, long, prominent philtrum, and micrognathia) and variable cerebral anomalies have also been described.|ORDO|N|
C0342738|3-Hydroxyisobutyryl-CoA hydrolase deficiency (HIBCHD) is an autosomal recessive inborn error of metabolism characterized by severely delayed psychomotor development, neurodegeneration, increased lactic acid, and brain lesions in the basal ganglia (summary by Ferdinandusse et al., 2013).|OMIM|N|
C0342739|Primary trimethylaminuria is characterized by a fishy odor resembling that of rotten or decaying fish that results from excess excretion of trimethylamine in the urine, breath, sweat, and reproductive fluids. No physical symptoms are associated with trimethylaminuria. Affected individuals appear normal and healthy; however, the unpleasant odor often results in social and psychological problems. Symptoms are usually present from birth and may worsen during puberty. In females, symptoms are more severe just before and during menstruation, after taking oral contraceptives, and around the time of menopause.|GeneReviews|N|
C0342749|Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type b, or glycogen storage disease (GSD) type 1b, is a type of glycogenosis due to G6P deficiency (see this term).|ORDO|N|
C0342753|Glycogen storage disease due to acid maltase deficiency, late onset (AMDL), a form of Glycogen storage disease due to acid maltase deficiency (AMD), a degenerative metabolic myopathy particularly affecting respiratory and skeletal muscles, is characterized by an accumulation of glycogen in lysosomes.|SNOMEDCT_US|N|
C0342762|A disease that has its basis in the disruption of glycerol metabolic process.|MONDO|N|
C0342765|D-glyceric aciduria is a rare autosomal recessive metabolic disorder with a highly variable phenotype. Some patients have an encephalopathic presentation, with severe mental retardation, seizures, microcephaly, and sometimes early death, whereas others have a mild phenotype with only mild speech delay or even normal development (summary by Sass et al., 2010).|OMIM|N|
C0342770|Fumarate hydratase (FH) deficiency results in severe neonatal and early infantile encephalopathy that is characterized by poor feeding, failure to thrive, hypotonia, lethargy, and seizures. Dysmorphic facial features include frontal bossing, depressed nasal bridge, and widely spaced eyes. Many affected individuals are microcephalic. A spectrum of brain abnormalities are seen on magnetic resonance imaging, including cerebral atrophy, enlarged ventricles and generous extra-axial cerebral spinal fluid (CSF) spaces, delayed myelination for age, thinning of the corpus callosum, and an abnormally small brain stem. Brain malformations including bilateral polymicrogyria and absence of the corpus callosum can also be observed. Development is severely affected: most affected individuals are nonverbal and nonambulatory, and many die during early childhood. Less severely affected individuals with moderate cognitive impairment and long-term survival have been reported.|GeneReviews|N|
C0342782|A clinically heterogeneous group of mitochondrial disorders characterized by a reduction of the mitochondrial DNA copy number in affected tissues without mutations or rearrangements in the mitochondrial DNA. It is phenotypically heterogeneous, and can affect a specific organ or a combination of organs, with the main presentations described being either hepatocerebral (i.e. hepatic dysfunction, psychomotor delay), myopathic (i.e. hypotonia, muscle weakness, bulbar weakness), encephalomyopathic (i.e. hypotonia, muscle weakness, psychomotor delay) or neurogastrointestinal (i.e gastrointestinal dysmotility, peripheral neuropathy). Additional phenotypes include fatal infantile lactic acidosis with methylmalonic aciduria, spastic ataxia (early-onset spastic ataxia-neuropathy syndrome), and Alpers syndrome.|ORDO|N|
C0342783|Most infants with short-chain acyl-CoA dehydrogenase deficiency (SCADD) identified through newborn screening programs have remained well, and asymptomatic relatives who meet diagnostic criteria are reported. Thus, SCADD is now viewed as a biochemical phenotype rather than a disease. A broad range of clinical findings was originally reported in those with confirmed SCADD, including severe dysmorphic facial features, feeding difficulties / failure to thrive, metabolic acidosis, ketotic hypoglycemia, lethargy, developmental delay, seizures, hypotonia, dystonia, and myopathy. However, individuals with no symptoms were also reported. In a large series of affected individuals detected on metabolic evaluation for developmental delay, 20% had failure to thrive, feeding difficulties, and hypotonia; 22% had seizures; and 30% had hypotonia without seizures. In contrast, the majority of infants with SCADD have been detected by expanded newborn screening, and the great majority of these infants remain asymptomatic. As with other fatty acid oxidation deficiencies, characteristic biochemical findings of SCADD may be absent except during times of physiologic stress such as fasting and illness. A diagnosis of SCADD based on clinical findings should not preclude additional testing to look for other causes.|GeneReviews|N|
C0342784|Mitochondrial DNA (mtDNA) deletion syndromes predominantly comprise three overlapping phenotypes that are usually simplex (i.e., a single occurrence in a family), but rarely may be observed in different members of the same family or may evolve from one clinical syndrome to another in a given individual over time. The three classic phenotypes caused by mtDNA deletions are Kearns-Sayre syndrome (KSS), Pearson syndrome, and progressive external ophthalmoplegia (PEO). KSS is a progressive multisystem disorder defined by onset before age 20 years, pigmentary retinopathy, and PEO; additional features include cerebellar ataxia, impaired intellect (intellectual disability, dementia, or both), sensorineural hearing loss, ptosis, oropharyngeal and esophageal dysfunction, exercise intolerance, muscle weakness, cardiac conduction block, and endocrinopathy. Pearson syndrome is characterized by sideroblastic anemia and exocrine pancreas dysfunction and may be fatal in infancy without appropriate hematologic management. PEO is characterized by ptosis, impaired eye movements due to paralysis of the extraocular muscles (ophthalmoplegia), oropharyngeal weakness, and variably severe proximal limb weakness with exercise intolerance. Rarely, a mtDNA deletion can manifest as Leigh syndrome.|GeneReviews|N|
C0342788|Systemic primary carnitine deficiency (CDSP) is a disorder of the carnitine cycle that results in defective fatty acid oxidation. It encompasses a broad clinical spectrum including the following: Metabolic decompensation in infancy typically presenting between age three months and two years with episodes of hypoketotic hypoglycemia, poor feeding, irritability, lethargy, hepatomegaly, elevated liver transaminases, and hyperammonemia triggered by fasting or common illnesses such as upper respiratory tract infection or gastroenteritis. Childhood myopathy involving heart and skeletal muscle with onset between age two and four years. Pregnancy-related decreased stamina or exacerbation of cardiac arrhythmia. Fatigability in adulthood. Absence of symptoms. The latter two categories often include mothers diagnosed with CDSP after newborn screening has identified low carnitine levels in their infants.|GeneReviews|N|
C0342790|Carnitine palmitoyltransferase II (CPT II) deficiency is a disorder of long-chain fatty-acid oxidation. The three clinical presentations are lethal neonatal form, severe infantile hepatocardiomuscular form, and myopathic form (which is usually mild and can manifest from infancy to adulthood). While the former two are severe multisystemic diseases characterized by liver failure with hypoketotic hypoglycemia, cardiomyopathy, seizures, and early death, the latter is characterized by exercise-induced muscle pain and weakness, sometimes associated with myoglobinuria. The myopathic form of CPT II deficiency is the most common disorder of lipid metabolism affecting skeletal muscle and the most frequent cause of hereditary myoglobinuria. Males are more likely to be affected than females.|GeneReviews|N|
C0342791|Carnitine-acylcarnitine translocase (CACT) is a critical component of the carnitine shuttle, which facilitates the transfer of long-chain fatty acylcarnitines across the inner mitochondrial membrane. CACT deficiency causes a defect in mitochondrial long-chain fatty acid ß-oxidation, with variable clinical severity. Severe neonatal-onset disease is most common, with symptoms evident within two days after birth; attenuated cases may present in the first months of life. Hyperammonemia and cardiac arrhythmia are prominent in early-onset disease, with high rates of cardiac arrest. Other clinical features are typical for disorders of long-chain fatty acid oxidation: poor feeding, lethargy, hypoketotic hypoglycemia, hypotonia, transaminitis, liver dysfunction with hepatomegaly, and rhabdomyolysis. Univentricular or biventricular hypertrophic cardiomyopathy, ranging from mild to severe, may respond to appropriate dietary and medical therapies. Hyperammonemia is difficult to treat and is an important determinant of long-term neurocognitive outcome. Affected individuals with early-onset disease typically experience brain injury at presentation, and have recurrent hyperammonemia leading to developmental delay / intellectual disability. Affected individuals with later-onset disease have milder symptoms and are less likely to experience recurrent hyperammonemia, allowing a better developmental outcome. Prompt treatment of the presenting episode to prevent hypoglycemic, hypoxic, or hyperammonemic brain injury may allow normal growth and development.|GeneReviews|N|
C0342792|Ketone bodies are major vectors of energy transfer from the liver to extrahepatic tissues and are the main source of lipid-derived energy for the brain. Mitchell et al. (1995) reviewed medical aspects of ketone body metabolism, including the differential diagnosis of abnormalities. As the first step of ketone body utilization, succinyl-CoA:3-oxoacid CoA transferase (SCOT, or OXCT1; EC 2.8.3.5) catalyzes the reversible transfer of CoA from succinyl-CoA to acetoacetate.|OMIM|N|
C0342793|Malonyl-CoA decarboxylase deficiency is an uncommon inherited metabolic disease. The characteristic phenotype is variable, but may include developmental delay in early childhood, seizures, hypotonia, diarrhea, vomiting, metabolic acidosis, hypoglycemia, ketosis, abnormal urinary compounds, lactic acidemia, and hypertrophic cardiomyopathy (Sweetman and Williams, 2001).|OMIM|N|
C0342800|Inosine triphosphate pyrophosphohydrolase (ITPase) deficiency is a common inherited condition characterized by the abnormal accumulation of inosine triphosphate (ITP) in erythrocytes (Sumi et al., 2002).|OMIM|N|
C0342801|The thiopurines include azathioprine (a pro-drug for mercaptopurine), mercaptopurine and thioguanine.  They are used to treat a variety of immunological disorders such as rheumatoid arthritis, non- Hodgkin lymphoma and ulcerative colitis. Both mercaptopurine and thioguanine can exert cytotoxic effects through the formation of thioguanine nucleotides (TGNs), active metabolites that incorporate into DNA. Mercaptopurine and thioguanine are directly inactivated by thiopurine S-methyltransferase (TPMT). Individuals with two nonfunctional TPMT alleles are at 100% risk of potentially fatal myelosuppression, due to an increased buildup of toxic TGNs. Alternative agents or a drastically reduced dose are recommended for patients with this genotype. Patients heterozygous for a nonfunctional TPMT allele are at increased risk of myelosuppression, and reduced dosing is recommended for these individuals. These dosing guidelines have been published in Clinical Pharmacology and Therapeutics by the Clinical Pharmacogenetics Implementation Consortium (CPIC) and are available on the PharmGKB website.|PharmGKB|N|
C0342803|Dihydropyrimidinase deficiency (DPYSD) is an autosomal recessive disease characterized by the presence of dihydropyrimidinuria. The clinical phenotype is highly variable, ranging from early infantile onset of severe neurologic involvement, dysmorphic features, and feeding problems to late onset of mild intellectual disability and even asymptomatic individuals. Patients with a complete or partial deficiency have an increased risk of developing severe toxicity after administration of the anticancer drug 5-fluorouracil (5-FU) (summary by Nakajima et al., 2017).
See also dihydropyrimidine dehydrogenase deficiency (274270), a similar disorder.|OMIM|N|
C0342825|A disease that has its basis in the disruption of cholesterol catabolic process.|MONDO|N|
C0342829|A disease that has its basis in the disruption of cholesterol biosynthetic process.|MONDO|N|
C0342841|Mucopolysaccharidosis type 2 (MPS2, see this term), severe form (MPS2S), is associated with a massive accumulation of glycosaminoglycans and a wide variety of symptoms including a rapidly progressive cognitive decline; it is most often fatal in the second or third decade.|ORDO|N|
C0342844|A disease that has its basis in the disruption of glycoprotein metabolic process.|MONDO|N|
C0342853|Sialuria is a rare inborn error of metabolism in which excessive free sialic acid is synthesized. Clinical features include hepatosplenomegaly, coarse facial features, and varying degrees of developmental delay (summary by Enns et al., 2001).|OMIM|N|
C0342859|Harderoporphyria (HARPO) is a rare erythropoietic variant form of hereditary coproporphyria (HCP; 121300) characterized by neonatal hemolytic anemia, sometimes accompanied by skin lesions, and massive excretion of harderoporphyrin in feces. During childhood and adulthood, a mild residual anemia is chronically observed (review by Schmitt et al., 2005).|OMIM|N|
C0342870|D-bifunctional protein deficiency is a disorder of peroxisomal fatty acid beta-oxidation. See also peroxisomal acyl-CoA oxidase deficiency (264470), caused by mutation in the ACOX1 gene (609751) on chromosome 17q25. The clinical manifestations of these 2 deficiencies are similar to those of disorders of peroxisomal assembly, including X-linked adrenoleukodystrophy (ALD; 300100), Zellweger cerebrohepatorenal syndrome (see 214100) and neonatal adrenoleukodystrophy (NALD; see 601539) (Watkins et al., 1995).
DBP deficiency has been classified into 3 subtypes depending upon the deficient enzyme activity. Type I is a deficiency of both 2-enoyl-CoA hydratase and 3-hydroxyacyl-CoA dehydrogenase; type II is a deficiency of hydratase activity alone; and type III is a deficiency of dehydrogenase activity alone. Virtually all patients with types I, II, and III have a severe phenotype characterized by infantile-onset of hypotonia, seizures, and abnormal facial features, and most die before age 2 years. McMillan et al. (2012) proposed a type IV deficiency on the basis of less severe features; these patients have a phenotype reminiscent of Perrault syndrome (PRLTS1; 233400). Pierce et al. (2010) noted that Perrault syndrome and DBP deficiency overlap clinically and suggested that DBP deficiency may be underdiagnosed.|OMIM|N|
C0342873|Glutaric aciduria III is characterized by an isolated accumulation of glutaric acid. It appears to be a 'non-disease' as it is found in healthy individuals and is associated with inconsistent symptoms in others (summary by Marlaire et al., 2014).|OMIM|N|
C0342877|A disease that has its basis in the disruption of cholesterol metabolic process.|MONDO|N|
C0342881|A rare disorder of lipid metabolism characterized by severely elevated low-density lipoprotein cholesterol levels and subsequent premature formation of atherosclerotic plaques in the coronary arteries, proximal aorta, and other arteries, significantly increasing the risk of cardiovascular disease at an early age. Xanthomas of the skin and in tendons are also a hallmark of the disease. Lethality is high due to early complications, in particular myocardial infarction.|ORDO|N|
C0342883|An autosomal dominant genetic condition caused by mutation(s) in the CETP gene, encoding cholesteryl ester transfer protein. Affected individuals may have increased longevity due to decreased risk of coronary heart disease.|NCI|N|
C0342892|abnormally decreased amount of fat in the blood.|CSP|N|
C0342895|Fish eye disease (FED) is a rare familial disorder characterized by severe high-density lipoprotein (HDL) deficiency and massive corneal opacities (summary by Kastelein et al., 1992).|OMIM|N|
C0342898|A rare lipoprotein metabolism disorder characterized biochemically by complete absence of apolipoprotein AI and extremely low plasma high density lipoprotein (HDL) cholesterol, and clinically by corneal opacities and xanthomas complicated with premature coronary heart disease (CHD).|ORDO|N|
C0342907|Sitosterolemia is characterized by: Hypercholesterolemia (especially in children) which (1) shows an unexpected significant lowering of plasma cholesterol level in response to low-fat diet modification or to bile acid sequestrant therapy; or (2) does not respond to statin therapy; Tendon xanthomas or tuberous (i.e., planar) xanthomas that can occur in childhood and in unusual locations (heels, knees, elbows, and buttocks); Premature atherosclerosis, which can lead to angina, aortic valve involvement, myocardial infarction, and sudden death; Hemolytic anemia, abnormally shaped erythrocytes (stomatocytes), and large platelets (macrothrombocytopenia). On occasion, the abnormal hematologic findings may be the initial presentation or the only clinical feature of this disorder. Arthritis, arthralgias, and splenomegaly may sometimes be seen and one study has concluded that "idiopathic" liver disease could be undiagnosed sitosterolemia. The clinical spectrum of sitosterolemia is probably not fully appreciated due to underdiagnosis and the fact that the phenotype in infants is likely to be highly dependent on diet.|GeneReviews|N|
C0342952|A finding indicating an abnormal increase in the body''s basal metabolic rate.|NCI|N|
C0343026|An infectious process affecting the nail.|NCI|N|
C0343047|A rare genetic disorder with an autosomal recessive pattern of inheritance. It is caused by the ineffective or decreased biosynthesis of the fifth complement component, C5. C5 deficiency may also be acquired acutely post-infection. If C5 is adequately synthesized, its rapid depletion may result in a functional deficiency. Clinical signs of the inherited deficiency present within the second decade of life and are consistent with the signs of recurrent systemic infection. Deficiency of serum C5 and its major cleavage product, C5b, a component of the membrane attack complex, increases susceptibility to Neisserial infections.|NCI|N|
C0343052|Guttate psoriasis is a skin condition in which small, red, and scaly teardrop-shaped spots appear on the arms, legs, and middle of the body.It is a relatively uncommon form of psoriasis. The condition often develops very suddenly, and is usually triggered by an infection (e.g., strep throat, bacteria infection, upper respiratory infections or other viral infections). Other triggers include injury to the skin, including cuts, burns, and insect bites, certain malarial and heart medications, stress, sunburn, and excessive alcohol consumption. Treatment depends on the severity of the symptoms, ranging from at-home over the counter remedies to medicines that suppress the body's immunesystem to sunlight and phototherapy.|MONDO|N|
C0343055|Generalized pustular psoriasis (GPP) is a life-threatening disease characterized by sudden, repeated episodes of high-grade fever, generalized rash, and disseminated pustules, with hyperleukocytosis and elevated serum levels of C-reactive protein (123260) (summary by Marrakchi et al., 2011). GPP often presents in patients with existing or prior psoriasis vulgaris (PV; see 177900); however, GPP can develop without a history of PV (Sugiura et al., 2013). Palmoplantar pustulosis and acrodermatitis continua of Hallopeau represent acral forms of pustular psoriasis that have historically been grouped with GPP (summary by Setta-Kaffetzi et al., 2013).
GPP in association with sterile multifocal osteomyelitis and periostitis (612852) is caused by mutation in the IL1RN gene (147679).
Capon (2013) noted that the percentage of GPP patients reported to be negative for mutation in IL36RN ranges from 51 to 84%, indicative of genetic heterogeneity in the generalized pustular form of psoriasis.
For a discussion of genetic heterogeneity of psoriasis, see PSORS1 (177900).|OMIM|N|
C0343057|Keratosis follicularis spinulosa decalvans is a rare genodermatosis occurring during infancy or childhood, predominantly affecting males, and characterized by diffuse follicular hyperkeratosis associated with progressive cicatricial alopecia of the scalp, eyebrows and eyelashes. Additional findings can include photophobia, corneal dystrophy, facial erythema, and/or palmoplantar keratoderma.|ORDO|N|
C0343060|Pityriasis rotunda is a rare skindisease characterized by round, scaly, pigmented patches that mainly occur on the trunk, arms and legs. There are two types of pityriasis rotunda.|MONDO|N|
C0343065|An exaggerated whealing tendency when the skin is stroked, that is, formation of red, itchy bumps and lines on the skin as a result of pressure on the skin (for instance, stroking the skin with a pen or tongue depressor).|HPO|N|
C0343068|Familial cold autoinflammatory syndrome is characterized clinically by recurrent attacks of a maculopapular rash associated with arthralgias, myalgias, fever and chills, and swelling of the extremities after exposure to cold. Despite the first description of 'cold urticaria' (Kile and Rusk, 1940) the rash in most patients is nonpruritic and nonurticarial. Rarely, some patients may also develop late-onset renal amyloidosis (Hoffman et al., 2000).
Overlapping syndromes also caused by mutation in the NLRP3 gene include Muckle-Wells syndrome (CAPS2; 191900), which has a high frequency of amyloidosis and late-onset sensorineural deafness, and chronic neurologic cutaneous and articular syndrome (CINCA, CAPS3; 607115), which shows earlier onset and a more severe phenotype.
Genetic Heterogeneity of Familial Cold Autoinflammatory Syndrome
See also FCAS2 (611762), caused by mutation in the NLRP12 gene (609648) on chromosome 19q13; FCAS3 (614468), caused by mutation in the PLCG2 gene (600220) on chromosome 16q23; and FCAS4 (616115), caused by mutation in the NLRC4 gene (606831) on chromosome 2p22.|OMIM|N|
C0343072|A rare cutaneous paraneoplastic disease characterised by the presence of excessive lanugo-type hair on the glabrous skin of face, neck, trunk and limbs that can be associated with additional clinical features such as burning glossitis, papillary hypertrophy of the tongue, diarrhoea, dysgeusia, and/or weight loss. It is associated with lymphoma or cancer of the gastrointestinal system, urinary tract, lung, breast, uterus or ovary.|SNOMEDCT_US|N|
C0343073|The term wooly hair refers to an abnormal variant of hair that is fine, with tightly coiled curls, and often hypopigmented. Optical microscopy may reveal the presence of tight spirals and a clear diameter reduction as compared with normal hair. Electron microscopy may show flat, oval hair shafts with reduced transversal diameter.|HPO|N|
C0343079|Multiple eruptive milia (MEM) is a rare condition in which clusters of milia (benign keratinous cysts) develop suddenly on the face and upper trunk (summary by Langley et al., 1997).|OMIM|N|
C0343081|A rare vascular skin disease characterized by recurrent focal non-inflammatory thrombosis of dermal venulae, predominantly of the lower extremities, resulting in a cutaneous response manifested as pruritus and painful papules and erythematous plaques. The lesions evolve into hemorrhagic vesicles or bullae, which rupture and turn into painful ulcers merging into reticulate, confluent, geometric, and painful ulcerations. During a period of a few months, the ulcerations change to porcelain-white atrophic scars with punctate telangiectasia (so-called atrophie blanche). In active disease, lesions in different stages coexist.|ORDO|N|
C0343082|A capillary hemangioma of the skin, presenting as a red papular lesion.|NCI|N|
C0343083|A reactive, well-circumscribed vascular lesion. It is characterized by the formation of thin papillae projecting within the lumen of blood vessels. The papillae are lined by plump endothelial cells. Blood clots are also present.|NCI|N|
C0343084|Systemic capillary leak syndrome (SCLS) is a severe systemic disease due to increased capillary permeability, characterized by episodes of hypotension, edema and hypovolemia.|ORDO|N|
C0343089|A localized lymphangioma characterized by microcystic changes.|NCI|N|
C0343094|A rare genetic skin disease characterized by generalized poikiloderma with marked accentuation in flexural regions and on extensor surfaces, sclerosis of palms and soles, and linear and reticulated hyperkeratotic and sclerotic bands in the axilla and the antecubital and popliteal fossae. Subcutaneous calcification, finger clubbing, Raynaud phenomenon, and cardiac abnormalities (such as severe aortic stenosis) have also been reported.|ORDO|N|
C0343101|Wells syndrome is characterised by the presence of recurrent cellulitis-like eruptions with eosinophilia.|ORDO|N|
C0343108|A rare genetic disease characterized by childhood onset of bilateral progressive sensorineural hearing loss, ocular anomalies (myopia, cataract, retinitis pigmentosa), central and peripheral nervous system features (dementia, epilepsy, ataxia, peripheral neuropathy), ectodermal features (skin atrophy, alopecia, dental caries), and skeletal anomalies (bone cysts, joint stiffness, scoliosis, kyphosis). Laboratory examination may reveal elevated cerebrospinal fluid protein.|ORDO|N|
C0343111|Naegeli-Franceschetti-Jadassohn syndrome (NFJS) is a rare autosomal dominant disorder of skin, hair, and teeth. It is characterized by complete absence of dermatoglyphics (fingerprint lines), a reticulate pattern of skin hyperpigmentation that tends to disappear with age, thickening of the palms and soles (palmoplantar keratoderma), and decreased sweating. Dental anomalies including enamel defects, skin blistering, and nail dystrophy have been reported in some patients. It can be distinguished from dermatopathia pigmentosa reticularis (DPR) by the latter's features of lifelong persistence of the skin hyperpigmentation, partial alopecia, and absence of dental anomalies (summary by Lugassy et al., 2006).|OMIM|N|
C0343113|A benign skin lesion consisting of a cluster of capillaries at the surface of the skin, forming a red papular lesion.|NCI|N|
C0343114|Woolly hair nevus (WHN) is a rare non-familial hair anomaly characterized by kinky, tightly coiled, and hypopigmented fine hair with an average diameter of 0.5 cm, noted, since birth or during the first two years of life, in a localized circumscribed distribution on the scalp. Occassionally, WHN grows in areas observed to be alopecic in the neonatal period. WHN can be associated with features like ocular defects (persistent pupillary membrane, retinal defects), precocious puberty, and epidermal nevi.|ORDO|N|
C0343115|Cutaneous mastocytoma is a form of cutaneous mastocytosis (CM, see this term) generally characterized by the presence of a solitary or multiple hyperpigmented macules, plaques or nodules associated with abnormal accumulation of mast cells in the skin.|ORDO|N|
C0343143|Results from abnormal knee motion (i.e. sliding of the bones) due to damage to ligament; as a result the knee becomes more and more unstable leading to pain, swelling and the potential for further injury.|SNOMEDCT_US|N|
C0343146|Lack of full passive range of motion (restrictions in flexion, extension, or other movements) of a finger joint resulting from structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules and/or skin.|HPO|N|
C0343149|Contractures of one or more joints of the feet meaning chronic loss of joint motion due to structural changes in non-bony tissue.|HPO|N|
C0343165|Abnormal accumulation of fluid in or around the ankle joint.|HPO|N|
C0343190|Cutaneous polyarteritis nodosa (CPAN) is a rare limited form of polyarteritis nodosa (PAN, see this term), characterized by cutaneous vasculitis and mild and transient extracutaneous manifestations such as mild arthralgia, arthritis,myalgia, and rarely peripheral neuropathy.|ORDO|N|
C0343196|A rare small vessel vasculitis associated with rapidly progressive glomerulonephritis (GN) and clinically characterized by renal manifestations such as urinary abnormalities (hematuria and/or proteinuria) and hypertension leading to renal failure within days or weeks, and distinguished by the absence of immune deposits on immunofluorescent microscopy. The disease can occur as a renal-limited disease or as a component of systemic necrotizing small-vessel vasculitis.|ORDO|N|
C0343206|A rare immune complex-mediated small vessel vasculitis characterized by urticaria and hypocomplementemia (low C3, C4 and/or C1q), and usually associated with circulating anti-C1q autoantibodies. Arthritis, pulmonary disease, ocular inflammation are common systemic manifestations.|ORDO|N|
C0343231|A benign soft tissue tumor of the wrist usually found in the dorsal aspect of the wrist and communicate with the joint via a pedicle. This pedicle usually originates not only at the scapholunate ligament, but also may arise from a number of other sites over the dorsal aspect of the wrist capsule.|HPO|N|
C0343239|Mild hypotonia that usually appears early in infancy and has a favorable outcome. It is not a manifestation of another disorder that may cause hypotonia (e.g., cerebral palsy or muscular dystrophy).|NCI|N|
C0343292|A scoliosis which is the results of a difference in leg length (which might be due to hemihypertrophy or hemihypotrophy of a leg) and the resulting tilting of the pelvis. If untreated this will lead to the development of scoliosis over time.|HPO|N|
C0343312|A syndrome of generalized rigidity with muscle spasms and seizures in the neonatal period resulting from Clostridium tetani toxin production.|NCI|N|
C0343363|Enteritis attributed to the rotavirus.|NCI|N|
C0343375|Paratyphoid fever that is caused by infection with Salmonella enterica, serovar Paratyphi A.|NCI|N|
C0343376|Paratyphoid fever that is caused by infection with Salmonella enterica, serovar Paratyphi B.|NCI|N|
C0343377|Paratyphoid fever that is caused by infection with Salmonella enterica, serovar Paratyphi C.|NCI|N|
C0343378|Inflammation of the stomach that is associated with Helicobacter Pylori.|NCI|N|
C0343386|A bacterial infection caused by Clostridium difficile (Clostridioides difficile), which is a spore-forming, toxin-producing Gram-positive anaerobic bacillus that is transmitted by the fecal-oral route. Infection may cause symptoms ranging from diarrhea to life-threatening inflammation of the colon, and risk factors include use of antibiotic medication, advanced age, and hospital or long-term care facility admission.|NCI|N|
C0343387|A syndrome characterized by inflammation in the ILEUM, the CECUM, and the ASCENDING COLON. It is observed in cancer patients with CHEMOTHERAPY-induced NEUTROPENIA or in other immunocompromised individuals (IMMUNOCOMPROMISED HOST).|MSH|N|
C0343398|Cyclosporosis is a parasitic disease caused by <i>Cyclospora cayetanensis</i>, a recently discovered coccidia that was initially described in Peru and then in most intertropical zones. Infection occurs through ingestion of contaminated food or water and leads to abdominal pain, anorexia and diarrhoea, which may resolve spontaneously in immunocompetent individuals but may persist in a chronic form in immunocompromised subjects, leading to a decline in their general state of health.|ORDO|N|
C0343401|Infection with staphylococcus aureus resistant to the antibiotic methicillin (MRSA). MRSA can infect any individual but is more common among hospitalized patients, and can also occur as an opportunistic infection.|HPO|N|
C0343463|Type 1 lepra reactions or reversal reactions are associated with the development of M. leprae antigenic determinants. They are delayed hypersensitivity reactions and may occur in both paucibacillary leprosy and multibacillary leprosy. (WHO)|SNOMEDCT_US|N|
C0343466|Type 2 lepra reactions (erythema nodosum leprosum), are associated with circulation and tissue deposition of immune complexes. They are an antibody response or immune complex response to M. leprae antigenic determinants which occur only in multibacillary leprosy. (WHO)|SNOMEDCT_US|N|
C0343494|Fixed sarcastic grimace and anxious expression. Caused by spasms of the masseter and other facial muscles.|HPO|N|
C0343525|A rare potentially lethal oropharyngeal infectious disease occurring in immunocompetent adolescents and young adults that is mainly due to Fusobacterium necrophorum and with characteristics of septic thrombophlebitis of the internal jugular vein that leads to septic usually pulmonary embolism, associated with ENT (ear, nose, and throat) infection that manifests with fever, neck pain and tonsillopharyngitis.|SNOMEDCT_US|N|
C0343528|Pontiac fever (PF) is a mild form of legionellosis (see this term) manifesting with flu-like symptoms such as nausea, myalgia, fever, cough and headache but without pneumonia.|ORDO|N|
C0343532|Streptococcal toxic-shock syndrome (streptococcal TSS) is an acute disease mediated by the production of superantigenic toxins characterized by the sudden onset of fever and other febrile symptoms, pain, multisystem organ involvement and potentially leading to coma, shock and death due to a <i>Streptococcus pyogenes</i> infection.|ORDO|N|
C0343560|A rare acquired developmental anomaly syndrome characterized by skin, neurological, ocular, limbs and growth defects secondary to maternal Varicella-Zoster Virus (VZV) infection.|ORDO|N|
C0343633|Brazilian hemorrhagic fever, caused by the Sabia virus (a newly discovered arenavirus), is a viral hemorrhagic fever, believed to originate from Sao Paulo, Brazil, with only 3 reported cases (2 of which were due to laboratory accidents) to date, characterized by fever, nausea vomiting myalgia tremors, and hemorragic manifestations such as conjunctival petechia and haematemesis, leading potentially to shock, coma and death.|ORDO|N|
C0343640|A clinical variant of Burkitt lymphoma that occurs in equatorial Africa. The Epstein-Barr virus has been detected in all patients. It is the most common malignancy of childhood in this area.|NCI|N|
C0343641|An infectious process caused by a human papillomavirus. This infection can cause abnormal tissue growth.|NCI|N|
C0343723|Inflammation of the conjunctiva in a newborn due to Chlamydia trachomatis which was acquired during labor and delivery.|NCI|N|
C0343751|An infection caused by human immunodeficiency virus (HIV) that is asymptomatic at the time of testing.|NCI|N|
C0343755|A rare condition associated with acquired immunodeficiency syndrome (AIDS) and characterized by unwanted weight loss (involving both fat and muscle) of more than ten percent of body weight, with either diarrhea or weakness and fever which have lasted at least 30 days and are not related to an infection.|SNOMEDCT_US|N|
C0343768|An infectious disease caused by infection with rickettsia conorii subsp. coronorii.|MONDO|N|
C0343770|An infection that is caused by Bartonella henselae, which occurs primarily in immunocompromised persons; it is characterized by blood-filled cysts in the liver and spleen.|NCI|N|
C0343867|Overgrowth of candida albicans in the penis.|HPO|N|
C0343874|An inflammatory skin condition in the diaper area superimposed with Candida infection, characterized by a bright red rash with a sharply demarcated edge and satellite lesions. Skin folds are often involved.|NCI|N|
C0343875|A fungal infection by any of the Candida species that is present at birth.|NCI|N|
C0343900|Histoplasmosis infection involving multiple sites of the body. Disseminated histoplasmosis can involve various organs, including reticuloendothelial organs, gastrointestinal tract, adrenal glands, central nervous system, endovascular structures, kidney, and skin. It typically presents with systemic symptoms like fever, generalized fatigue, night sweats, weight loss, and the symptoms related to the specific organ involved. Severe disseminated disease can manifest as septic shock, multi organ failure, and ARDS.|HPO|N|
C0343939|Fungal infections caused by trichosporon that may become systemic especially in an immunocompromised host. Clinical manifestations range from superficial cutaneous infections to systemic lesions in multiple organs.|MONDO|N|
C0343952|An opportunistic infection caused by a heterogeneous group of mitosporic fungi with clear (hyalo-) hyphae in the host. Common causative agents include acremonium; aspergillus; chrysosporium; fusarium; paecilomyces; penicillium; pseudallescheria; scedosporium; and scopulariopsis. Normally a dermatomycoses, it can become invasive in the immunocompromised host.|MONDO|N|
C0343965|A disease caused by infection with Basidiobolus.|MONDO|N|
C0344058|A disease caused by infection with Thelazia.|MONDO|N|
C0344061|A rare cutaneous myiasis characterized by infestation of open wounds by dipterous fly larvae. Mucous membranes and body cavity openings can also be affected. The condition may be accompanied by fever, pain, and secondary infections and can lead to massive tissue destruction and even death. Predisposing factors for larval infestation are poor hygiene, advanced or very young age, alcoholism, diabetes, and vascular occlusive disease, among others.|ORDO|N|
C0344159|A form of anaphylaxis that is triggered by exposure to venom.|HPO|N|
C0344168|A form of anaphylaxis that is triggered by intake of drugs or medications.|HPO|N|
C0344183|Anaphylaxis after physical activity.|HPO|N|
C0344232|Lack of sharpness of vision resulting in the inability to see fine detail.|HPO|N|
C0344243|Seesaw nystagmus is a type of pendular nystagmus where a half cycle consists of the elevation and intorsion of one eye, concurrently with the depression and extortion of the fellow eye. In the other half cycle, there is an inversion of the ocular movements.|HPO|N|
C0344247|A change in horizontal ocular alignment, unrelated to accommodation, that is brought about solely by a change in the balance of visual input from the two eyes.|HPO|N|
C0344262|A conical projection of the anterior surface of the lens, occurring as a developmental anomaly.|HPO|N|
C0344263|A conical projection of the posterior surface of the lens, occurring as a developmental anomaly.|HPO|N|
C0344290|Ocular abnormality characterized by premature degeneration of the vitreous and the retina that may be associated with increased risk of retinal detachment.|HPO|N|
C0344297|Central areolar choroidal dystrophy (CACD) is a hereditary retinal disorder that principally affects the macula, often resulting in a well-defined area of atrophy of the retinal pigment epithelium (RPE) and choriocapillaris in the center of the macula. Dysfunction of macular photoreceptors usually leads to a decrease in visual acuity, generally occurring between the ages of 30 and 60 years (summary by Boon et al., 2009).
Genetic Heterogeneity of Central Areolar Choroidal Dystrophy
CACD2 (613105) is caused by mutation in the PRPH2 gene (179605) on chromosome 6p21. See also CACD3 (613144) for a family in which linkage to the PRPH2 gene and chromosome 17p13 has been excluded.|OMIM|N|
C0344299|A pale yellow discoloration of the temporal (lateral) portion of the optic disc.|HPO|N|
C0344307|Inability to perceive painful stimuli.|HPO|N|
C0344310|The visible, linear scarring in the dermis, predominantly of the abdomen due to the stretching of tissue and related hormonal changes during pregnancy.|NCI|N|
C0344312|A triangular depigmented region of white hairs located in the anterior midline of the scalp.|HPO|N|
C0344315|An emotional state characterized by feelings of sadness, emptiness, and/or tearfulness.|NCI|N|
C0344318|An overwhelming, irrational, and persistent fear of traveling in an aircraft.|NCI|N|
C0344322|Lack of sexual interest or feelings.|PSY|N|
C0344329|Failure of a physiologic function or system.|NCI|N|
C0344353|A history of following a vegan diet characterized by avoidance of food sourced from animals including meet, fish, and dairy products.|HPO|N|
C0344363|An entwining of a segment of umbilical cord, usually without obstructing fetal circulation and commonly result from fetal slippage through a loop of the cord.|HPO|N|
C0344375|An involuntary muscular contraction in the stomach. Often, this cramp is spasmodic and can be uncomfortable.|NCI|N|
C0344386|The presence of an abnormal number of fragmented red blood cells (schistocytes) in the blood.|HPO|N|
C0344391|A type of acelluar casts that have a surface composed of granules, which can vary in size. The granules can be rather heterogeneous, ranging from fine (finely granular cast) up to coarse (coarsely granular cast), dark, clear, and pigmented.|HPO|N|
C0344421|An electrocardiographic finding of a wide QRS complex with evidence of delayed conduction to the right ventricle, manifested by a widened initial portion of the QRS in V1 and V2, a widened S wave in V5, V6, I and aVL, and with QRS duration greater than or equal to 120 ms. An RsR'' complex is typically present in leads V1 and V2. (CDISC)|NCI|N|
C0344431|A type of ventricular tachycardia that is characterized by uniform QRS complexes within each lead (i.e., each QRS is identical or nearly so).|HPO|N|
C0344432|A type of ventricular tachycardia that is characterized by variable QRS complexes within each lead (i.e., QRS complexes may be different from beat to beat).|HPO|N|
C0344452|A pituitary prolactin cell adenoma of less than 10 mm diameter.|HPO|N|
C0344453|A pituitary prolactin cell adenoma of more than 10 mm diameter.|HPO|N|
C0344456|A primary or metastatic malignant neoplasm affecting the adrenal medulla.|NCI|N|
C0344459|A malignant tumor arising from the salivary gland. It includes carcinoma ex pleomorphic adenoma, a malignant epithelial tumor arising from a pre-existing pleomorphic adenoma and carcinosarcoma which is characterized by a mixture of malignant epithelial and sarcomatous elements.|NCI|N|
C0344460|A carcinoma arising in a pre-existing pleomorphic adenoma. It most often occurs in the parotid gland and less often in the submandibular gland and minor salivary gland. Patients usually present with a history of a long-standing mass which recently had undergone rapid growth. The prognosis depends on the invasiveness of the malignant component. Patients with non-invasive or minimally invasive tumors usually have a good prognosis following surgical resection. Invasive tumors are usually aggressive and are associated with recurrences and metastases.|NCI|N|
C0344461|An obsolete term referring to neoplasms arising from oligodendrocytes.|NCI|N|
C0344467|A rare multiple congenital anomalies/dysmorphic syndrome characterized by brachydactyly, nystagmus, and cerebellar ataxia. Intellectual deficit and strabismus have also been reported. There have been no further descriptions in the literature since 1934.|ORPHANET|N|
C0344479|A heterogeneous group of congenital spinal anomalies that result from defective closure of the neural tube early in fetal life.|HPO|N|
C0344482|Underdevelopment of the corpus callosum.|HPO|N|
C0344484|Presence of arachnoid cysts of the spinal canal extradurally in the epidural space.|HPO|N|
C0344485|Spinal intradural arachnoid cysts are cerebrospinal fluid -filled sacs that are located between the spinal cord and the arachnoid membrane (one of the three membranes that cover the brain and spinal cord). The signs and symptoms of the condition vary based on the size and location of the cysts. Some affected people may have no suspicious symptoms while others experience progressive back and leg pain; tingling or numbness in the hands or feet; weakness of the legs; and involuntary muscle spasms (spasticity) that result in slow, stiff movements of the legs. When present, symptoms usually occur when the cysts compress the spinal cord or other nearby nerves. Spinal intradural arachnoid cysts are often present at birth and arecaused by developmental abnormalities in the spinal cord that occur during the pregnancy. They can also result from a previous infection or injury and develop later in life. Although there is disagreement in the medical community regarding when to treat spinal intradural arachnoid cysts, the need for treatment generally depends on the size and location of the cyst and whether or not it is causing symptoms. When indicated, the cysts are typically treated with surgery.|MONDO|N|
C0344488|A rare non-syndromic central nervous system malformation characterized by complete or near-complete absence of the cerebellum with a normal sized posterior fossa, possibly accompanied by hypoplasia of the brainstem. The clinical picture is highly variable, but typically includes ataxia, dysarthria, tremor, dysmetria, dysdiadochokinesia, and oculomotor abnormalities, in addition to impaired mental, motor, and language development and intellectual disability.|ORPHANET|N|
C0344490|Absence (aplasia) of the sacrum.|HPO|N|
C0344499|Developmental hypoplasia of the eyelid.|HPO|N|
C0344502|A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi|SNOMEDCT_US|N|
C0344503|Redundant eyelid skin pressing the eyelashes against the cornea and/or conjunctiva.|HPO|N|
C0344505|Absence of tear secretion.|HPO|N|
C0344511|A developmental disorder of the lacrimal drainage system that most often affects the lacrimal ostium and resulting in non-opening of the nasolacrimal duct. It usually results from a non-canalization of the nasolacrimal duct.|HPO|N|
C0344516|A sectoral indentation of the crystalline lens, usually due to zonular weakness or absence.|HPO|N|
C0344523|Cerulean cataract, first described by Vogt (1922), is an autosomal dominant, early-onset, bilateral cataract with complete penetrance. Newborns appear asymptomatic until the age of 18 to 24 months, at which time they can be clinically diagnosed by slit-lamp examination through the appearance of tiny blue or white opacities that form first in the superficial layers of the fetal lens nucleus. The opacities progress throughout the adult lens nucleus and the cortex, forming concentric layers, with central lesions oriented radially. Histologically the lesions appear to be tapered cavities between lens fibers. Progression of the cataract is slow, such that patients may have lens extractions between the ages of 16 and 35 years (Armitage et al., 1995).
The preferred title/symbol of this entry was formerly 'Cataract, Congenital, Cerulean Type, 1; CCA1.'|OMIM|N|
C0344529|Cornea plana is an abnormally flat shape of the cornea such that the normal protrusion of the cornea from the sclera is missing. The reduced corneal curvature can lead to hyperopia, and a hazy corneal limbus and arcus lipoides may develop at an early age.|HPO|N|
C0344530|Megalocornea is an inherited eye disorder in which the corneal diameter is bilaterally enlarged (greater than 13 mm) without an increase in intraocular pressure. It may also be referred to as 'anterior megalophthalmos,' since the entire anterior segment is larger than normal. Features of megalocornea in addition to a deep anterior chamber include astigmatic refractive errors, atrophy of the iris stroma, miosis secondary to decreased function of the dilator muscle, iridodonesis, and tremulousness, subluxation, or dislocation of the lens. Whereas most affected individuals exhibit normal ocular function, complications include cataract development and glaucoma following lenticular dislocation or subluxation. X-linked recessive inheritance is the most common pattern, accounting for the male preponderance of the disorder (summary by Skuta et al., 1983).
Megalocornea sometimes occurs as part of the Marfan syndrome (154700).
Genetic Heterogeneity of Megalocornea
Autosomal recessive megalocornea has been reported (249300).|OMIM|N|
C0344533|A rare corneal disorder characterized by non-inflammatory, non-progressive, bilateral ingrowth of vascularized, opaque scleral tissue into the peripheral cornea, obliterating the corneoscleral limbus and scleral sulcus. The condition is not associated with other ocular abnormalities.|ORPHANET|N|
C0344539|Congenital underdevelopment of the iris.|HPO|N|
C0344541|The presence of remnants of a fetal membrane that persist as strands of tissue crossing the pupil.|HPO|N|
C0344542|PAX6-related aniridia occurs either as an isolated ocular abnormality or as part of the Wilms tumor-aniridia-genital anomalies-retardation (WAGR) syndrome. Aniridia is a pan ocular disorder affecting the cornea, iris, intraocular pressure (resulting in glaucoma), lens (cataract and lens subluxation), fovea (foveal hypoplasia), and optic nerve (optic nerve coloboma and hypoplasia). Individuals with aniridia characteristically show nystagmus and impaired visual acuity (usually 20/100 - 20/200); however, milder forms of aniridia with subtle iris architecture changes, good vision, and normal foveal structure do occur. Other ocular involvement may include strabismus and occasionally microphthalmia. Although the severity of aniridia can vary between and within families, little variability is usually observed in the two eyes of an affected individual. WAGR syndrome. The risk for Wilms tumor is 42.5%-77%; of those who develop Wilms tumor, 90% do so by age four years and 98% by age seven years. Genital anomalies in males can include cryptorchidism and hypospadias (sometimes resulting in ambiguous genitalia), urethral strictures, ureteric abnormalities, and gonadoblastoma. While females typically have normal external genitalia, they may have uterine abnormalities and streak ovaries. Intellectual disability (defined as IQ <74) is observed in 70%; behavioral abnormalities include attention-deficit/hyperactivity disorder (ADHD), autism spectrum disorder, anxiety, depression, and obsessive-compulsive disorder. Other individuals with WAGR syndrome can have normal intellect without behavioral problems.|GeneReviews|N|
C0344544|Multiple pupils.|HPO|N|
C0344550|An area of the retina that is buckled so that a sector-shaped sheet of retina lies in front of the normal retina. This feature is of congenital onset.|HPO|N|
C0344559|Anterior segment dysgeneses (ASGD or ASMD) are a heterogeneous group of developmental disorders affecting the anterior segment of the eye, including the cornea, iris, lens, trabecular meshwork, and Schlemm canal. The clinical features of ASGD include iris hypoplasia, an enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, an abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface (summary by Cheong et al., 2016).
Anterior segment dysgenesis is sometimes divided into subtypes including aniridia (see 106210), Axenfeld and Rieger anomalies, iridogoniodysgenesis, Peters anomaly, and posterior embryotoxon (Gould and John, 2002).
Patients with ASGD5 have been reported with the Peters anomaly, Axenfeld anomaly, and Rieger anomaly subtypes.
Peters anomaly consists of a central corneal leukoma, absence of the posterior corneal stroma and Descemet membrane, and a variable degree of iris and lenticular attachments to the central aspect of the posterior cornea (Peters, 1906). It occurs as an isolated ocular abnormality or in association with other ocular defects.
In Axenfeld anomaly, strands of iris tissue attach to the Schwalbe line; in Rieger anomaly, in addition to the attachment of iris tissue to the Schwalbe line, there is clinically evident iris stromal atrophy with hole or pseudo-hole formation and corectopia (summary by Smith and Traboulsi, 2012).|OMIM|N|
C0344583|A congenital anatomic anomaly in which the heart has only three chambers.|NCI|N|
C0344612|An abnormality of the circulatory connection between atria and ventricles.|HPO|N|
C0344615|Connection of the right atrium to the left ventricle and of the left atrium to the right ventricle in a biventricular heart.|HPO|N|
C0344616|The essence of the lesion is the combination of discordant atrioventricular and ventriculo-arterial connections. Thus, the morphologically right atrium is connected to a morphologically left ventricle across the mitral valve, with the left ventricle then connected to the pulmonary trunk. The morphologically left atrium is connected to the morphologically right ventricle across the tricuspid valve, with the morphologically right ventricle connected to the aorta.|HPO|N|
C0344617|With left or right cardiac isomerism in a biventricular, the atrioventricular connections are perforce ambiguous, in that one of the connections is concordant (e.g., right-sided morphologic right atrium connected to a morphologic right ventricle) and one of the connections is discordant (e.g., left-sided morphologic right atrium connected to a morphologic left ventricle).|HPO|N|
C0344621|The condition in which both atria are joined to the right ventricle each by its own atrioventricular valve. Usually, the left ventricle is hypoplastic.|HPO|N|
C0344622|The condition in which both atria are joined to the left ventricle each by its own atrioventricular valve. Usually there is a hypoplastic right ventricle, which may be on the opposite side of the heart as usual.|HPO|N|
C0344624|A defect where there is no connection between the right atrium and right ventricle.|HPO|N|
C0344629|A defect where there is no connection between the left atrium and left ventricle.|HPO|N|
C0344656|Absence of the right superior vena cava (RSVC). An absent RSVC is always associated with a persistent left superior vena cava (PLSVC). During normal fetal development, the left-sided anterior venous cardinal system regresses, leaving the coronary sinus (CS) and the ligament of Marshall. Failure of the closure of the left anterior cardinal vein results in PLSVC. In general, PLSVC is associated with the right superior vena cava (RSVC) and drains into the RA via a dilated CS. When developmental arrest occurs at an earlier stage, the CS is absent and the PLSVC drains into the left atrium.|HPO|N|
C0344658|A rare, congenital vascular malformation of the major vessels characterized by the right SVC passing medially and dorsally to the aortic root and draining into the left atrium. Patients usually present a right-to-left systemic venous blood shunt which may manifest with arterial hypoxemia, cyanosis, exercise dyspnea, clubbing of the fingers, palpitations, murmurs and/or potentially fatal brain abscess. Association with other cardiac anomalies has been reported.|ORDO|N|
C0344659|The presence of a left and a right superior vena cava.|HPO|N|
C0344680|An abnormality of the coronary sinus, which is formed by the union of the great cardiac vein and the left marginal vein and terminates in the right atrium. The coronary sinus functions to o collect deoxygenated blood from the myocardium of the heart and drain it into the right atrium.|HPO|N|
C0344684|A rare congenital anomaly of the coronary sinus characterized by its stenosis at the ostium, lumen, or origin, typically leading to dilation of the vessel. Symptoms are variable and can include palpitations, tachypnea, dyspnea, chest pain, fatigue, and cyanosis. The malformation may be associated with other cardiac anomalies, such as coronary artery-coronary sinus fistula, unroofed coronary sinus, atrial septal defect, coronary sinus-left atrium fistula, total anomalous pulmonary venous connection, and ventricular septal defect.|ORDO|N|
C0344688|A congenital defect of the vasculature such that there is a shunt (by-pass) of blood directly from the portal vein to the vena cava (i.e., the blood from the portal vein is not filtered through the liver).|HPO|N|
C0344697|A congenital anomaly with partitioning of the right atrium to form a triatrial heart caused by persistence of the right valve of the sinus venosus. Typically, the right atrial partition is due to exaggerated fetal eustachian and thebesian valves, which together form an incomplete septum across the lower part of the atrium. This septum may range from a reticulum to a substantial sheet of tissue.|HPO|N|
C0344712|A rare, congenital, non-syndromic, heart malformation characterized by the presence of a thin, fibromuscular membrane subdividing the left atrium into an upper and lower chamber. The upper chamber receives blood from the pulmonary veins and the lower chamber is attached to the left atrial appendage. Therefore, the membrane blocks the orifice of the mitral valve and leads to obstruction of the left ventricular inflow. It may be asymptomatic or present in infancy with tachypnea, dyspnea, hemoptysis, chest pain, syncope, pulmonary edema, pulmonary hypertension, or heart failure, depending on the degree of obstruction. The anomaly may be isolated or associated with other congenital heart anomalies.|ORDO|N|
C0344722|An abnormality of the interatrial septum.|HPO|N|
C0344724|A kind of atrial septum defect arising from an enlarged foramen ovale, inadequate growth of the septum secundum, or excessive absorption of the septum primum.|HPO|N|
C0344730|An interatrial communication caused by a deficiency of the common wall between the superior vena cava (SVC) and the right-sided pulmonary veins. SVASD is commonly associated with anomalous pulmonary venous connection (APVC) of some or all of the pulmonary veins, which produces additional left-to-right shunting.|HPO|N|
C0344735|An ostium primum atrial septal defect is located in the most anterior and inferior aspect of the atrial septum. The ostium primum refers to an anterior and inferior opening (ostium) within the septum primum, which divides the rudimentary atrium during fetal development. The ostium primum is normally sealed by fusion of the superior and inferior endocardial cushions around 5 weeks' gestation. Ostium primum defects result from a failure of the fusion of the embryologic endocardial cushion and septum primum.|HPO|N|
C0344745|A form of agenesis of the tricuspid valve in which (although the normal orifice between the right atrium and right ventricle exists) there is no tricuspid valvular tissue.|HPO|N|
C0344755|Parachute tricuspid valve is a rare congenital heart malformation defined as an insertion of the chordal apparatus into a single papillary muscle or a muscle group, making a pathognomonic 'pear' shape sign in the four-chamber echocardiographic view with the atrium forming the larger base of the pear and the leaflets the apex. Isolated parachute tricuspid valve may be asymptomatic or present with symptoms of tricuspid stenosis (diastolic inspiratory murmur, pulsation of jugular veins, hepatomegaly, edema, epigastric discomfort, right atrial enlargement, right ventricular hypertrophy, electrocardiography abnormalities). It may also be associated with other heart malformations and present with symptoms of the complex of malformations.|ORDO|N|
C0344760|A congenital defect with failure to open of the mitral valve orifice.|HPO|N|
C0344769|Congenital unguarded mitral orifice is a rare, congenital, mitral valve malformation characterized by complete absence of mitral valve leaflets and tensor apparatus at the mitral annulus, which can present clinically with cyanosis, heart murmur, electrocardiogram abnormalities, mild cardiomegaly, or congestive heart failure. Association with heterotaxy, discordant atrioventricular connections, double-outlet right ventricle, pulmonary atresia or stenosis, thin left ventricular wall, and hypoplastic left heart syndrome has been reported.|ORDO|N|
C0344770|The left atrio-ventricular connection consists of two anatomically distinct orifices separated by accessory fibrous tissue.|HPO|N|
C0344772|A rare, congenital, non-syndromic heart malformation characterized by a slit-like hole or defect in one of the mitral valve leaflets, which is usually thickened and distorted. It usually affects the anterior leaflet, but the cleft of posterior leaflet has also been described. Cleft mitral valve can be isolated or associated with other congenital heart anomalies.|ORDO|N|
C0344774|A congenital non-syndromic heart malformation characratized by an accessory mitral valve leaflet or various accessory mitral valve structures. It may be asymptomatic or present at various ages with symptoms of left ventricular outflow tract obstruction, low cardiac output due to subaortic obstruction or congestive heart failure. In some cases, it may be a source of cardioembolism. The malformation may be isolated or associated with other congenital heart malformations.|ORDO|N|
C0344787|A rare, congenital cardiac anomaly characterized by a common atrioventricular junction with a common AV valve, an interatrial communication just above the common AV valve (ostium primum defect), a posterior interventricular communication (inlet VSD), that results in shunting at both the atrial and ventricular level. Morphologically, the common atrioventricular valve has 4 or 5 leaflets including superior and inferior bridging leaflets with a single annulus.|ORPHANET|N|
C0344881|The commonest form of tetralogy of Fallot characterized by pulmonary stenosis, overriding aorta, ventricular septum defect, and right ventricular hypertrophy, without pulmonary atresia, absent pulmonary valve, atrioventricular canal defect or absent subarterial conus.|HPO|N|
C0344882|An extreme form of tetralogy of Fallot characterized by absence of flow from the right ventricle to the pulmonary arteries.|HPO|N|
C0344887|An abnormality of the right ventricle of the heart.|HPO|N|
C0344893|Enlargement of the chamber of the right ventricle.|HPO|N|
C0344905|Any structural abnormality of the left ventricle of the heart.|HPO|N|
C0344915|A rare congenital non-syndromic heart malformation characterized by a bulging of the left ventricular wall, connected to the left ventricle by a wide neck (with a ratio of the connection to the body of the anomaly &gt;1). The dimensions of aneurysms have been described as small as 0.5 cm in diameter and as big as 8x9 cm in size. Most frequent locations are the left ventricular apex and the perivalvular area. Aneurysms can be a- or dyskinetic or show almost normal contractility. Patients may remain asymptomatic or present with systemic embolization, congestive heart failure, valvular regurgitation, ventricular wall rupture, ventricular tachycardia, or sudden cardiac death.|ORPHANET|N|
C0344916|An abnormality of the outflow tract of the left ventricle.|HPO|N|
C0344924|Any ventricular septal defect (VSD) that is small enough to restrict flow across it such that a pressure gradient exists between the two sides of the VSD.|HPO|N|
C0344925|A ventricular septal defect that is confluent with and involves the membranous septum and is bordered by an atrioventricular valve, not including the type 3 VSDs.|HPO|N|
C0344947|The more common indirect type of communication where the flow of blood is from the left ventricle through a ventricular septal defect into the right ventricle and then through a defect in the tricuspid valve into the right atrium.|SNOMEDCT_US|N|
C0344954|A bowing (bulging to one side) of the interventricular septum of more than 15 mm on either side in adults and 5 mm in children during normal cardiac motion.|HPO|N|
C0344955|The dividing wall between left and right sides of the heart, thickens and bulges into the left ventricle.|HPO|N|
C0344963|A rare, cyanotic congenital heart malformation caused by underdevelopment of the right-sided heart structures (tricuspid valve, RV, pulmonary valve, and pulmonary artery) commonly associated with an atrial septal defect, ostium secundum type (see this term). Pulmonary blood flow is diminished and right-to-left shunting occurs at the atrial level, leading to dyspnea, fatigue, atrial arrhythmias, right-sided heart failure, hypoxemia, repeated miscarriages that were mostly due to hypoxemia and cyanosis. Two subtypes of HRHS have been characterized: pulmonary atresia-intact ventricular septum and right ventricular hypoplasia.|ORDO|N|
C0344974|A congenital malformation of the pulmonary valve characterized by leaflet deformation.|HPO|N|
C0344975|A rare form of cyanotic congenital heart malformation characterized by severe cyanosis and tachypnea. It presents significant morphologic diversity: at the end of the spectrum are patients with a mildly hypoplastic and tripartite right ventricle (RV) and mild tricuspid valve (TV) hypoplasia, and at the other end are patients with severe RV and TV hypoplasia, often with RV-dependent coronary circulation.|ORDO|N|
C0344976|Pulmonary atresia with ventricular septal defect (PA-VSD) is a rare cyanotic congenital heart malformation characterized by underdevelopment of the right ventricular outflow tract and atresia of the pulmonary valve, ventricular septal defect (VSD) and pulmonary collateral vessels. Clinical features depend on the anatomic variability of the lesion and patients may be minimally symptomatic, severely cyanotic or may develop congestive heart failure. PA-VSD may represent a severe form of Tetralogy of Fallot (see this term).|ORDO|N|
C0344983|Pulmonary valve agenesis is a rare congenital heart malformation characterized by a total or partial absence of the pulmonary valve leaflets associated with stenosis of the pulmonary artery orifice and aneurysmal dilatation of the pulmonary arteries. It usually occurs in association with additional cardiovascular malformations such as teralogy of fallot or ventricular septal defect, or can occur as part of a syndrome (e.g. 22q11.2 deletion syndrome). Clinical features depend on the presence of associated cardiac malformations and include pulmonary insufficiency, bronchial obstruction (secondary to compression by aneurysmally dilated pulmonary arteries), pulmonary stenosis, cyanosis, and cardiac failure.|ORDO|N|
C0344987|The presence of a bicuspid pulmonary valve.|HPO|N|
C0345001|The presence of an aortic valve with one instead of the normal three cusps (flaps).|HPO|N|
C0345002|The presence of an aortic valve with four instead of the normal three cusps (flaps).|HPO|N|
C0345010|An aortic disease that is characterized by an absence of an opening from the left ventricle of the heart into the aorta.|MONDO|N|
C0345017|Underdeveloped pulmonary arteries.|NCI|N|
C0345030|Stenosis of a peripheral branch of the pulmonary artery.|HPO|N|
C0345037|The right pulmonary artery originates from the ascending aorta in the presence of a pulmonary valve and main pulmonary artery.|HPO|N|
C0345040|The left pulmonary artery originates from the ascending aorta in the presence of a pulmonary valve and main pulmonary artery.|HPO|N|
C0345050|Aneurysms and dissections of the aorta usually result from degenerative changes in the aortic wall. Thoracic aortic aneurysms and dissections are primarily associated with a characteristic histologic appearance known as 'medial necrosis' or 'Erdheim cystic medial necrosis' in which there is degeneration and fragmentation of elastic fibers, loss of smooth muscle cells, and an accumulation of basophilic ground substance. In contrast, degeneration leading to abdominal aortic aneurysm (100070) is usually caused by a combination of factors including age, atherosclerosis, hypertension, and infectious, inflammatory, or autoimmune processes.
Medial necrosis and thoracic aortic aneurysm/dissection are known to occur in certain connective tissue diseases such as Marfan syndrome (154700), and vascular (type IV) Ehlers-Danlos syndrome (130050). More commonly, however, medial necrosis occurs in the absence of a clearly identifiable syndrome.
Genetic Heterogeneity of Thoracic Aortic Aneurysm
Loci for isolated thoracic aortic aneurysm have been identified on chromosomes 11q (AAT1) and 5q (AAT2; 607087). Mutation in the MYH11 gene (160745) on chromosome 16p causes AAT4 (132900). Mutation in the ACTA2 gene (102620) on chromosome 10q causes AAT6 (611788). Mutation in the MYLK gene (600922) on chromosome 3q21 causes AAT7 (613780). Mutation in the PRKG1 gene (176894) on chromosome 10q11 causes AAT8 (615436). Mutation in the MFAP5 gene (601103) on chromosome 12p13 causes AAT9 (616166). Mutation in the LOX gene (153455) on chromosome 5q23 causes AAT10 (617168). Mutation in the FOXE3 gene (601094) on chromosome 1p33 causes susceptibility to AAT11 (617349).
Thoracic aortic aneurysm with dissection (e.g., AAT3 and AAT5) can occur as a manifestation of the Loeys-Dietz syndrome (see LDS2, 610168 and LDS1, 609192, caused by mutation in the TGFBR2 (190182) and TGFBR1 (190181) genes, respectively).
Reviews
Pyeritz (2014) reviewed heritable thoracic aortic disorders with particular attention to causative genes, including components of the extracellular matrix, vascular smooth muscle cytoskeleton, and TGF-beta and other signaling pathways.|OMIM|N|
C0345054|Aorto-left ventricular tunnel (ALVT) is a congenital extracardiac channel connecting the ascending aorta above the sino-tubular junction to either left or right ventricular cavity.|HPO|N|
C0345055|The presence of an extracardiac channel that connects the ascending aorta above the sinotubular junction to the cavity of the right ventricle.|HPO|N|
C0345065|The aortic arch extends into the soft tissues of the neck before turning down into to become the descending aorta.|HPO|N|
C0345066|A rare, congenital anomaly of the great arteries characterized by an extrapericardial vessel arising from the ascending aorta proximal to the brachiocephalic artery and terminating either in the dorsal aorta or in pulmonary arteries via a persistently patent arterial duct. The resulting connection is a systemic-to-systemic or systemic-to-pulmonary. Clinical manifestation include exercise intolerance, reduced femoral pulses, cyanosis with or without pulmonary hypertension and heart failure. Other congenital cardiovascular anomalies are often present and influence the clinical presentation.|ORDO|N|
C0345088|Pseudocoarctation is a congenital anomaly of kinking, or buckling, of the aorta without a pressure gradient across the lesion. It is characterized by elongation and kinking of the aorta at the level of the ligamentum arteriosum.|HPO|N|
C0345092|Non-continuity of the aortic arch with an atretic point or absent segment at the level of the isthmus.|HPO|N|
C0345093|Non-continuity of the aortic arch with an atretic point or absent segment between the left carotid and subclavian arteries.|HPO|N|
C0345094|Non-continuity of the aortic arch with an atretic point or absent segment between the innominate and left carotid arteries.|HPO|N|
C0345122|An abnormal path of a coronary artery.|HPO|N|
C0345123|Intramural coronary arterial course is a rare coronary artery congenital malformation disorder characterized by an atypical course of a coronary artery (usually proximal left anterior descending artery) in which, for a variable length, the artery runs intramyocardally. Depending on the artery and length of segment involved, patients may be asymptomatic or may present variable manifestations ranging from atypical angina to sudden death.|MONDO|N|
C0345138|Any abnormality involving the pericardium.|NCI|N|
C0345139|Congenital partial agenesis of pericardium is a rare, mostly asymptomatic, congenital heart malformation mainly characterized by the partial absence of the left pericardium. It is occasionally associated with chest pain or dyspnea and is usually incidentally diagnosed during surgery or at autopsy. Herniation and strangulation of a portion of the heart through the pericardial foramen may occur, resulting in myocardial acute ischemia and possible sudden death. Right side pericardium involvement is rare.|ORDO|N|
C0345140|No pericardium around the heart, occurring as a congenital defect, not the result of a surgical pericardectomy.|HPO|N|
C0345141|Pleuro-pericardial cyst is a rare, mostly congenital, pericardium anomaly characterized by the presence of, usually asymptomatic, cysts which are typically located in the right costophrenic angle and are usually incidentally diagnosed. On occasion, it manifests with chest pain, dyspnea, tachycardia, persistent cough or cardiac arrhythmias. The condition is usually benign, but rare complications, such as cardiac tamponade, cardiogenic shock, mitral valve prolapse, hoarseness atrial fibrillation, right ventricular outflow, tract obstruction, spontaneous internal hemorrhage, pulmonary stenosis and sudden death, may occur.|ORDO|N|
C0345195|Narrowing of the lumen of the jejunum that is present at birth.|NCI|N|
C0345198|Narrowing of the lumen of the ileum that is present at birth.|NCI|N|
C0345200|Abnormal small intestinal contractions, such as spasms and intestinal paralysis related to the loss of the ability of the gut to coordinate muscular activity because of endogenous or exogenous causes.|HPO|N|
C0345203|A malformation characterized by the absence of a normal opening in a part of the large intestine.|NCI|N|
C0345210|High anorectal malformation is a rare, genetic, non-syndromic subtype of anorectal malformation, resulting from a developmental defect during embryogenesis, characterized by a wide spectrum of anorectal anomalies, with or without a rectourogenital fistula, located above the pubococcygeal line (i.e. anorectal agenesis, rectal agenesis, atresia, or stenosis). Patients may present with meconuria, pyuria, strangury, and fecal and urinary incontinence.|MONDO|N|
C0345217|Cloacal exstrophy is a severe anterior abdominal wall defect in which the two hemibladders are visible and are separated by a midline intestinal plate, an omphalocele, and an imperforate anus.|HPO|N|
C0345218|Congenital malformations in the anorectal region that include the perineal fistula, anteriorly placed anus, and anorecto-vestibular fistula.|NCI|N|
C0345237|The most common form of Hirschsprung Disease, this is characterized by a lack of nerve cells in the sigmoid colon and rectum. The bowel is not stimulated without innervation and obstruction ensues. Surgical intervention is necessary.|NCI|N|
C0345240|A congenital defect characterized by the lack of ganglion cells in the entire intestine, i.e., the aganglionic segment comprises the entire large and small bowel.|HPO|N|
C0345259|The presence of peritoneal attachments (bands) that obstruct the duodenum. The attachments result from malrotation of the large intestine. This abnormality is manifested with severe vomiting soon after birth or after the first feeding of the infant.|NCI|N|
C0345282|The presence of a hypoplastic gallbladder.|HPO|N|
C0345286|Formation of abnormal lobules (small masses of tissue) in the liver.|HPO|N|
C0345309|Developmental hypoplasia of the vagina.|HPO|N|
C0345319|A cystic structure located between the ovary and fallopian tube.|NCI|N|
C0345322|Two penile structures, separated from the tip to the base of the shaft.|HPO|N|
C0345326|The male foreskin cannot be fully retracted from the head of the penis.|HPO|N|
C0345330|Congenital fusion of the embryonic kidneys forming a single renal parenchymal mass.|MSH|N|
C0345344|Persistence of the urachal canal with drainage of urine from the bladder through the persistent allantois canal to the umbilicus.|HPO|N|
C0345345|Congenital anomaly characterized by closure or failure to develop an opening in the urethra.|HPO|N|
C0345354|A form of polydactyly in which the extra digit or digits are localized on the side of the thumb or great toe.|HPO|N|
C0345360|A rare congenital limb malformation characterized by permanent and manually irreducible lateral dislocation of the kneecap. It typically presents with flexion contracture of the knee, genu valgus, absent or dysplastic trochlear groove of the femur, external rotation of the tibia, and dysfunction of the extensor mechanism. The defect may be unilateral or bilateral and can occur as an isolated malformation, be associated with other malformations of the lower limb, or be part of a polymalformative syndrome.|ORDO|N|
C0345371|Leg shortening because of underdevelopment of one or more bones of the lower extremity.|HPO|N|
C0345375|An abnormal shortening of the femur.|HPO|N|
C0345394|Small, underdeveloped vertebral bodies.|HPO|N|
C0345397|The presence of more than 12 rib pairs.|HPO|N|
C0345407|Osteopetrosis is a bone disease that makes bone tissue abnormally compact and dense and also prone to breakage (fracture). Researchers have described several major types of osteopetrosis, which are usually distinguished by their pattern of inheritance: autosomal dominant or autosomal recessive. The different types of the disorder can also be distinguished by the severity of their signs and symptoms.\n\nAutosomal dominant osteopetrosis (ADO), which is also called Albers-Schönberg disease, is typically the mildest type of the disorder. Some affected individuals have no symptoms. In affected people with no symptoms, the unusually dense bones may be discovered by accident when an x-ray is done for another reason. \n\nIn individuals with ADO who develop signs and symptoms, the major features of the condition include multiple bone fractures after minor injury, abnormal side-to-side curvature of the spine (scoliosis) or other spinal abnormalities, arthritis in the hips, and a bone infection called osteomyelitis. These problems usually become apparent in late childhood or adolescence.\n\nA few individuals have been diagnosed with intermediate autosomal osteopetrosis (IAO), a form of the disorder that can have either an autosomal dominant or an autosomal recessive pattern of inheritance. The signs and symptoms of this condition become noticeable in childhood and include an increased risk of bone fracture and anemia. People with this form of the disorder typically do not have life-threatening bone marrow abnormalities. However, some affected individuals have had abnormal calcium deposits (calcifications) in the brain, intellectual disability, and a form of kidney disease called renal tubular acidosis.\n\nAutosomal recessive osteopetrosis (ARO) is a more severe form of the disorder that becomes apparent in early infancy. Affected individuals have a high risk of bone fracture resulting from seemingly minor bumps and falls. Their abnormally dense skull bones pinch nerves in the head and face (cranial nerves), often resulting in vision loss, hearing loss, and paralysis of facial muscles. Dense bones can also impair the function of bone marrow, preventing it from producing new blood cells and immune system cells. As a result, people with severe osteopetrosis are at risk of abnormal bleeding, a shortage of red blood cells (anemia), and recurrent infections. In the most severe cases, these bone marrow abnormalities can be life-threatening in infancy or early childhood.\n\nOther features of autosomal recessive osteopetrosis can include slow growth and short stature, dental abnormalities, and an enlarged liver and spleen (hepatosplenomegaly). Depending on the genetic changes involved, people with severe osteopetrosis can also have brain abnormalities, intellectual disability, or recurrent seizures (epilepsy).|MedlinePlus Genetics|N|
C0345408|Digital clubbing is characterized by enlargement of the nail plate and terminal segments of the fingers and toes, resulting from proliferation of the connective tissues between the nail matrix and the distal phalanx (Myers and Farquhar, 2001).|OMIM|N|
C0345419|Isolated and classic cutis marmorata telangiectatica congenita (CMTC) are characterized by congenital skin changes including erythematous-to-violaceous, reticulated, net-like or marbled-appearing patches of skin that do not mostly or completely resolve with warming or any other acute intervention. Individuals with isolated CMTC have no other syndromic features, and skin lesions tend to fade or resolve. Those with classic CMTC may have accompanying hemihypoplasia with body asymmetry, skin atrophy or ulceration, other vascular malformations, and occasional ocular issues (early-onset glaucoma and/or peripheral retinal vascular attenuation) but do not have other malformations, dysmorphic features, or cognitive impairment. The most common location for the CMTC lesions is on the legs. An affected limb may also display weakness or be unusually susceptible to cold compared to an unaffected limb. In more than half of affected individuals, skin lesions will generally fade across a wide range in age (6 weeks to 26 years), most commonly in the first year of life, but may not resolve completely.|GeneReviews|N|
C0345447|Thyroid ectopia is a form of thyroid dysgenesis (see this term) characterized by an ectopic location of the thyroid gland that results in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth.|ORPHANET|N|
C0345522|A benign or malignant neoplasm that affects the base of the tongue.|NCI|N|
C0345531|A carcinoma of the oral cavity that arises from the upper gingiva.|NCI|N|
C0345535|A carcinoma of the oral cavity that arises from the lower gingiva.|NCI|N|
C0345538|A benign or malignant neoplasm that affects the floor of the mouth.|NCI|N|
C0345550|A carcinoma that arises from the hard palate. Representative examples include squamous cell carcinoma, adenoid cystic carcinoma, and mucoepidermoid carcinoma.|NCI|N|
C0345552|A neoplasm that arises from the hard palate and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C0345555|A carcinoma that arises from the soft palate. The majority are squamous cell carcinomas.|NCI|N|
C0345557|A non-metastasizing neoplasm that arises from the soft palate or uvula.|NCI|N|
C0345562|A non-metastasizing neoplasm that arises from the uvula.|NCI|N|
C0345563|A benign or malignant neoplasm that affects the buccal mucosa.|NCI|N|
C0345566|A neoplasm that arises from the buccal mucosa and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C0345599|A benign or malignant neoplasm that affects the major salivary glands. Representative examples of benign neoplasms include Warthin tumor, monomorphic adenoma, and pleomorphic adenoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma.|NCI|N|
C0345602|A carcinoma that arises from the parotid gland. Representative examples include mucoepidermoid carcinoma, adenoid cystic carcinoma, adenocarcinoma, and carcinoma ex pleomorphic adenoma.|NCI|N|
C0345604|A benign or malignant neoplasm that arises from the parotid gland. It is characterized by the presence of epithelial and mesenchymal elements. This category includes pleomorphic adenoma, carcinoma ex pleomorphic adenoma, and carcinosarcoma.|NCI|N|
C0345607|A carcinoma that arises from the submandibular gland. Representative examples include mucoepidermoid carcinoma, adenoid cystic carcinoma, and carcinoma ex pleomorphic adenoma.|NCI|N|
C0345611|A carcinoma that arises from the sublingual gland. Representative examples include cystadenocarcinoma and mucoepidermoid carcinoma.|NCI|N|
C0345612|A neoplasm that arises from the base of tongue and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C0345613|A benign or malignant neoplasm that affects the minor salivary glands.|NCI|N|
C0345614|A primary or metastatic malignant neoplasm that affects the minor salivary glands. Representative examples include carcinoma and malignant mixed tumor.|NCI|N|
C0345615|A neoplasm that arises from the minor salivary glands and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C0345617|A tumor (abnormal growth of tissue) of the middle ear.|HPO|N|
C0345630|A benign or malignant neoplasm that affects the nasal cavity. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma.|NCI|N|
C0345666|A neoplasm that arises from the maxillary sinus and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C0345668|A benign or malignant neoplasm that affects the ethmoid sinus. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma.|NCI|N|
C0345670|A neoplasm that arises from the ethmoid sinus and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C0345672|A benign or malignant neoplasm that affects the frontal sinus. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma.|NCI|N|
C0345674|A neoplasm that arises from the frontal sinus and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C0345676|A benign or malignant neoplasm that affects the sphenoid sinus. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma.|NCI|N|
C0345678|A neoplasm that arises from the sphenoid sinus and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C0345704|A benign or malignant neoplasm that affects the pyriform sinus.|NCI|N|
C0345713|A benign or malignant neoplasm that affects the glottic area of the larynx.|NCI|N|
C0345726|A benign or malignant neoplasm that affects the supraglottic area of the larynx.|NCI|N|
C0345746|A benign or malignant neoplasm that affects the subglottic area of the larynx.|NCI|N|
C0345749|A neoplasm that arises from the subglottis and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C0345795|A in situ carcinoma that involves the cardia of stomach.|MONDO|N|
C0345799|A carcinoma that arises from the fundus of the stomach.|NCI|N|
C0345800|A in situ carcinoma that involves the fundus of stomach.|MONDO|N|
C0345804|A carcinoma that arises from the body of the stomach.|NCI|N|
C0345805|A in situ carcinoma that involves the body of stomach.|MONDO|N|
C0345832|The presence of a neoplasm of the small intestine.|HPO|N|
C0345836|A malignant neoplasm involving the ileum|MONDO|N|
C0345839|A neoplasm involving a Meckel's diverticulum.|MONDO|N|
C0345873|A benign or malignant neoplasm that affects the rectosigmoid region. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma. Rectosigmoid adenomas always exhibit epithelial dysplasia and are considered premalignant neoplasms.|NCI|N|
C0345891|A syndrome associated with the development of multiple polyps throughout the intestine. It includes familial adenomatous polyposis , hamartomatous polyposis syndromes, and other rare polyposis syndromes.|NCI|N|
C0345893|Juvenile polyposis syndrome (JPS) is characterized by predisposition to hamartomatous polyps in the gastrointestinal (GI) tract, specifically in the stomach, small intestine, colon, and rectum. The term "juvenile" refers to the type of polyp rather than to the age of onset of polyps. Most individuals with JPS have some polyps by age 20 years; some may have only four or five polyps over their lifetime, whereas others in the same family may have more than 100. If the polyps are left untreated, they may cause bleeding and anemia. Most juvenile polyps are benign; however, malignant transformation can occur. Risk for GI cancers ranges from 11% to 86%. Most of this increased risk is attributed to colon cancer, but cancers of the stomach, upper GI tract, and pancreas have also been reported. A combined syndrome of JPS and hereditary hemorrhagic telangiectasia (HHT) is present in most individuals with an SMAD4 pathogenic variant.|GeneReviews|N|
C0345903|A non-neoplastic polypoid lesion that arises from the anal canal or perianal skin. It is composed of dense fibrous stroma and it is covered by squamous epithelium.|NCI|N|
C0345904|A primary or metastatic malignant neoplasm that affects the liver.|NCI|N|
C0345905|A carcinoma that arises from the intrahepatic bile duct epithelium in any site of the intrahepatic biliary tree. Grossly, the malignant lesions are solid, nodular, and grayish. Morphologically, the vast majority of cases are adenocarcinomas. Signs and symptoms include malaise, weight loss, right upper quadrant abdominal pain, and night sweats. Early detection is difficult and the prognosis is generally poor.|NCI|N|
C0345906|A malignant soft tissue neoplasm that arises from the liver. Representative examples include angiosarcoma, undifferentiated (embryonal) sarcoma, rhabdomyosarcoma, and leiomyosarcoma.|NCI|N|
C0345907|A malignant vascular neoplasm arising from the liver.|NCI|N|
C0345908|A carcinoma in situ involving a liver.|MONDO|N|
C0345911|A carcinoma in situ involving a gall bladder.|MONDO|N|
C0345912|A neoplasm that arises from the gallbladder and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C0345913|A benign or malignant neoplasm that affects the extrahepatic bile ducts. Representative examples include adenoma and adenocarcinoma.|NCI|N|
C0345914|Stage 0 includes: (Tis, N0, M0). Tis: Carcinoma in situ. N0: No regional metastasis. M0: No distant metastasis. (AJCC 6th ed.)|NCI|N|
C0345916|A benign or malignant neoplasm involving the ampulla of Vater.|NCI|N|
C0345918|Stage 0 includes: Tis, N0, M0. Tis: Carcinoma in situ. N0: No regional lymph node metastasis. M0: No distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C0345920|A benign or malignant neoplasm that arises from the epithelial cells of the exocrine pancreatic tissue.|NCI|N|
C0345933|A rare functioning neuroendocrine tumor of pancreas characterized by a typically well-differentiated neoplasm composed of cells expressing serotonin. Patients may present with atypical carcinoid syndrome with abdominal pain, diarrhea, weight loss, and/or flushing. Carcinoid syndrome is usually present only when there are liver metastases. The tumors tend to be larger than non-functioning tumors and are associated with a poorer prognosis because they are almost always metastatic.|ORDO|N|
C0345945|An adenoid cystic carcinoma that arises from the trachea. It spreads to the submucosal tracheal tissue and to regional lymph nodes.|NCI|N|
C0345946|A rare squamous cell carcinoma that arises from the mucosal lining of the trachea. It usually grows as an intraluminal mass and later invades extraluminal structures. The majority of patients present with hemoptysis, coughing, dyspnea, or stridor.|NCI|N|
C0345958|A type of non-small cell lung carcinoma that is derived from undifferentiated malignant neoplasms originating from transformed epithelial cells in the lung, and which is differentiate from small-cell lung carcinoma by the larger size of the anaplastic cells, a higher cytoplasmic-to-nuclear size ratio, and a lack of salt-and-pepper appearance of the chromatin.|HPO|N|
C0345960|A morphologic variant of lung sarcomatoid carcinoma characterized by the presence of mononuclear and multinucleated pleomorphic neoplastic giant cells that lack cohesion.|NCI|N|
C0345961|A low-grade malignant blood vessel neoplasm arising from the lung. It is characterized by the presence of epithelioid endothelial cells. The neoplastic cells are arranged in cords and nests, which are embedded in a myxoid to hyalinized stroma.|NCI|N|
C0345963|A neoplasm that arises from the lung and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C0345964|A benign, well circumscribed epithelial neoplasm that arises from the bronchus or the lung parenchyma. Representative examples include alveolar adenoma, papillary adenoma, and mucus gland adenoma.|NCI|N|
C0345965|A teratoma that arises from the lung.|NCI|N|
C0345967|Malignant mesothelioma is an aggressive neoplasm of the serosal lining of the chest etiologically linked to asbestos. It is diagnosed in approximately 2,000 to 3,000 individuals annually in the United States, most of whom die within 2 years of diagnosis (summary by Bott et al., 2011).
See also 614327 for a tumor predisposition syndrome that may contribute to the development of malignant mesothelioma upon asbestos exposure and is caused by germline mutation in the BAP1 gene (603089) on chromosome 3p21.|OMIM|N|
C0345975|A non-metastasizing neoplasm that arises from the thymus.|NCI|N|
C0345976|A benign, premalignant, or malignant neoplasm that arises from epithelial cells and involves the skin.|NCI|N|
C0345978|A squamous cell carcinoma of the skin with a prominent clear cell component.|NCI|N|
C0345979|A histologic variant of squamous cell carcinoma that arises from the skin. It is characterized by loosening of the intercellular bridges between the malignant cells which results in acantholysis.|NCI|N|
C0345981|An epithelial neoplasm that arises from the skin and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C0345982|A rare genetic neoplastic disorder with an autosomal dominant pattern of inheritance characterized by multiple, recurrent skin cancers that spontaneously resolve. It has been described almost exclusively in families of Scottish origin. It is caused by a mutation in the tumor-suppressing gene, TGFBR1, on chromosome 9. Clinical presentation is usually rapidly growing squamous cell carcinomas or keratoacanthomas that primarily localize to sun-exposed areas. Appearance of the neoplasms occurs over several weeks before receding over the course of several months if untreated. The regression of the lesions leaves pitting cicatrices but no other known sequelae.|NCI|N|
C0345983|A squamous papilloma that involves the zone of skin.|MONDO|N|
C0345985|Generalized eruptive keratoacanthoma (GEKA) is rare variant of keratoacanthoma (KA) that affects the skin and mucous membranes and which is characterized by a sudden generalized eruption of severely pruritic, hundreds to thousands of small follicular papules, often with a central keratotic plug.|ORDO|N|
C0345988|A benign or malignant neoplasm that arises from the hair follicles, sebaceous glands, or sweat glands.|HPO|N|
C0345996|Presence of multiple small cysts containing keratin (skin protein) and presenting as tiny pearly-white bumps just under the surface of the skin.|HPO|N|
C0345998|A cutaneous cyst that is small (one or two millimeters in diameter) and painless, presenting as a follicular papule that usually is skin colored but may have a reddish or brownish tinge.|HPO|N|
C0346005|A benign, small, papular or nodular skin neoplasm that usually arises above the upper lip. It is characterized by an epithelial proliferation with a central cavity. The cavity wall is lined with keratinocytes.|NCI|N|
C0346006|A cutaneous adnexal neoplasm with variable clinical presentation. It tends to be located in the head and neck and the presentation is papulonodular, scaly, asymptomatic, measuring up to 1-2cm, simulating a basal cell carcinoma.|HPO|N|
C0346007|A rare benign tumor of the hair follicle occurring usually in the face or buttocks.|NCI|N|
C0346010|The clinical characteristics of Birt-Hogg-Dubé syndrome (BHDS) include cutaneous manifestations (fibrofolliculomas, acrochordons, angiofibromas, oral papules, cutaneous collagenomas, and epidermal cysts), pulmonary cysts/history of pneumothorax, and various types of renal tumors. Disease severity can vary significantly even within the same family. Skin lesions typically appear between the second and fourth decades of life and typically increase in size and number with age. Lung cysts are often bilateral and multifocal; most individuals are asymptomatic but at high risk for spontaneous pneumothorax. Individuals with BHDS are at a sevenfold increased risk for renal tumors that can be bilateral and multifocal; median age of renal tumor diagnosis is 48 years. The most common renal tumors are a hybrid of oncocytoma and chromophobe histologic cell types (oncocytic hybrid tumor) and chromophobe histologic cell types. Some families have renal tumor(s) and/or spontaneous pneumothorax without cutaneous manifestations.|GeneReviews|N|
C0346011|Fibrofolliculoma is a clinically asymptomatic, 2-4 mm, skin-colored, dome-shaped smooth papule. It usually arises in the form of multiple lesions in adults in different areas such as the scalp, forehead, face, and neck. According to histology, the lesion is a fibrotic hamartoma characterized by infundibular epithelial proliferation and perifollicular fibrous proliferation.|HPO|N|
C0346013|A variant of basal cell carcinoma presenting as an elevated or erythematous nodular lesion usually in the back. Morphologically, it is characterized by the presence of cords of basaloid cells extending from the epidermis into the dermis, creating a fenestrating pattern. It follows an indolent course.|NCI|N|
C0346017|A adenoid cystic carcinoma that involves the skin of body.|MONDO|N|
C0346019|A rare carcinoma of the skin. It is characterized by epidermoid cells interspersed with glandular cells.|NCI|N|
C0346026|A rare, benign, slow-growing and painless neoplasm of sweat glands. It usually arises in the head and neck. It is characterized by the presence of a mesenchymal chondroid stroma, fibrosis, and epithelial structures.|NCI|N|
C0346027|A low grade adenocarcinoma with ductal differentiation, arising from the sweat glands. It presents as a scar usually in the face. It is characterized by the formation of small ducts and it frequently involves nerves and perineural spaces.|NCI|N|
C0346037|A type of cutaneous melanoma localized to the palm, sole, or beneath the nail (subungual melanoma). Acral lentiginous melanoma starts as a slowly-enlarging flat patch of discolored skin and usually displays a size above 6 mm and often several centimeters or more in diameter upon diagnosis and variable pigmentation with a mixutre of colors including brown, and blue-grey, black and red. The surface of the lesion is initially smooth but later in the course may become thicker and irregular, and may ulcerate or bleed.|HPO|N|
C0346041|A benign, intermediate, or malignant neoplasm that arises from the dermis.|NCI|N|
C0346042|Elastofibroma dorsi is a rare, acquired, dermis elastic tissue disorder characterized by a benign, slowly progressive, often bilateral, non-encapsulated lesion, usually presenting as an ill-defined mass under the inferior angle of the scapula (but other locations have been reported), which adheres to the deep layers and presents no local signs of inflammation. It is commonly asymptomatic and discovered inadvertently, but symptoms may include pain and discomfort or stiffness when using the shoulder. The presence of a firm mass masked by the scapula during retropulsion of the shoulder and becoming prominent when the shoulder is displaced toward the front is a frequent sign. Neuromuscular involvement of the upper limb may occur in rare cases.|ORPHANET|N|
C0346045|A keratotic cutaneous polyp containing abundant connective tissue.|SNOMEDCT_US|N|
C0346049|A skin neoplasm composed of fibrohistiocytic cells, spindle fibrous cells, and histiocytes in a storiform pattern.|NCI|N|
C0346053|An intermediate cutaneous mesenchymal neoplasm of uncertain differentiation, usually affecting the actinic-damaged skin of the elderly. The tumor presents as a single cutaneous nodule which is often ulcerated. Microscopically, it is characterized by the presence of highly atypical cytologic features, pleomorphism and abundant mitotic figures. The vast majority of patients have an excellent prognosis following conservative therapy. Recurrences are infrequent, and metastasis is rare.|NCI|N|
C0346054|A papillary or cauliflower-like growth characterized by the presence of foamy histiocytes within the elongated dermal papillae forms.|HPO|N|
C0346056|A very rare intraneural mass in a large nerve characterized by the interposition of mature skeletal muscle fibers and nerve fibers.|NCI|N|
C0346057|A neurofibroma that grows along small branches of nerves in the dermis in patients with neurofibromatosis. It presents as a solid cutaneous tumor.|NCI|N|
C0346060|A granular cell tumor that involves the zone of skin.|MONDO|N|
C0346062|A smooth muscle neoplasm occurring in the skin.|NCI|N|
C0346063|A ganglioneuroma arising from the skin.|NCI|N|
C0346064|The presence of leiomyoma of the skin.|HPO|N|
C0346066|A cutaneous leiomyoma arising from the dartos muscle of the scrotum or labia majora.|NCI|N|
C0346067|The presence of leiomyosarcoma of the skin.|HPO|N|
C0346068|Cobb syndrome is defined by the association of vascular cutaneous (venous or arteriovenous), muscular (arteriovenous), osseous (arteriovenous) and medullary (arteriovenous) lesions at the same metamere or spinal segment. This segmental distribution may involve one or many of the 31 metameres present in humans. Only 16% of the medullary lesions are multiple and have a clearly metameric distribution.|ORDO|N|
C0346072|A rare vascular malformation disorder with cutaneous and visceral lesions frequently associated with serious, potentially fatal bleeding and anemia.|ORDO|N|
C0346073|Tufted angioma is a rare benign vascular lesion that predominantly affects children under 5 years of age but may occur in adulthood. Some cases of tufted angioma have been reported in the mother during pregnancy, whereas in other cases the tufted angioma may be congenital. The lesions occur predominantly on the neck, shoulders, and trunk and appear histologically in a 'cannonball' distribution of rounded nodules or tufts of capillary-sized vessels in the dermis, with lymphatic vessels present at the periphery. The natural history is slow progressive growth, after which it tends to remain stable in size. Regression has been reported in some cases. Tufted angioma should be distinguished from kaposiform hemangioendothelioma (KHE). Multiple tufted angioma and KHE may be associated with Kasabach-Merritt syndrome (141000), which is characterized by severe thrombocytopenia and consumption of coagulation factors (summary by Tille et al., 2003).|OMIM|N|
C0346076|A hemangioma characterized by the presence of hobnail endothelial cells.|NCI|N|
C0346081|A malignant vascular neoplasm arising from the skin.|NCI|N|
C0346082|Lymphangiosarcoma occurring in patients with chronic lymphedema often following radical mastectomy but also reported in relation to congenital and other secondary forms of chronic lymphedema.|SNOMEDCT_US|N|
C0346083|A glomus tumor arising from the skin. It usually presents as a small red-blue nodule and it often associated with pain at the site.|NCI|N|
C0346084|A benign or malignant hemangiopericytoma arising in the skin.|NCI|N|
C0346085|A malignant hemangiopericytoma arising in the skin.|NCI|N|
C0346086|A vascular proliferation arising from the skin. It is characterized by the presence of prominent endothelial cells and formation of vascular channels.|NCI|N|
C0346087|A rare vascular tumour characterised by an ill-defined, slowly growing, asymptomatic cutaneous plaque or nodule mostly involving the limbs, in fewer cases the trunk. The tumour is composed of lymphatic-like channels with prominent intraluminal papillary tufts with hyaline cores lined by hobnail endothelial cells. It is locally aggressive, while metastasis is rare. Infants and children are much more often affected than adults.|SNOMEDCT_US|N|
C0346091|A rare speckled nevus with concentric pattern of pigmentation and central papule surrounded by clear zone.|NCI|N|
C0346098|A benign melanocytic nevus characterized by the presence of desmoplastic stroma.|NCI|N|
C0346099|A tan, regularly bordered patch with darker macules within the lesion.|HPO|N|
C0346104|Bazex-Dupre-Christol syndrome (BDCS) is an X-linked dominant disorder characterized by a triad of congenital hypotrichosis, follicular atrophoderma affecting the dorsa of the hands and feet, the face, and extensor surfaces of the elbows or knees, and the development of basal cell neoplasms, including basal cell nevi and basal cell carcinomas from the second decade onward (Yung and Newton-Bishop, 2005).
Rombo syndrome (180730) has similar features, but shows autosomal dominant inheritance.|OMIM|N|
C0346109|A Malignant mesothelioma originating from cells of the peritoneum (the thin layer of mesothelium lining the abdomen). Peritoneal mesothelioma is the second most common form of mesothelioma after pleural mesothelioma.|HPO|N|
C0346110|A rare malignant mesothelioma that arises from the pericardium. Clinical presentation includes pericardial effusion, congestive heart failure, a mass or cardiac tamponade. Surgical resection is the treatment of choice. Adjunct treatments of chemotherapy or radiation have not improved outcomes. The prognosis is extremely poor due to its late presentation and difficulty obtaining complete surgical excision. In most cases the diagnosis is made at autopsy or postoperatively.|NCI|N|
C0346112|A rare benign neoplasm that arises from the mesothelial cells of the pleura. It is characterized by a proliferation of epithelioid cells forming glandular and tubular patterns in a fibrous stroma.|NCI|N|
C0346113|A rare benign neoplasm that arises from the mesothelial cells of the peritoneum. It is characterized by the presence of gland-like structures. Cytologic atypia is absent.|NCI|N|
C0346118|A mesenchymal neoplasm composed of adipose (fatty) tissue. There is no evidence of atypical or malignant cytological and architectural features, invasive features, or metastases.|NCI|N|
C0346151|An infiltrating ductal breast carcinoma associated with stromal fibrosis.|NCI|N|
C0346153|BRCA1- and BRCA2-associated hereditary breast and ovarian cancer (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (including fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. The risk of developing an associated cancer varies depending on whether HBOC is caused by a BRCA1 or BRCA2 pathogenic variant.|GeneReviews|N|
C0346154|A phyllodes tumor of the breast characterized by infiltrative margins and a sarcomatous stromal component. The sarcomatous stroma usually displays features of fibrosarcoma. Liposarcomatous, osteosarcomatous, or rhabdomyosarcomatous elements may also be present.|NCI|N|
C0346156|A neoplasm that arises from the breast and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C0346157|A breast fibroadenoma characterized by a very large size. This term has also been used as a synonym for juvenile fibroadenoma by some authors. The latter is characterized by epithelial hyperplasia and an increased stromal cellularity.|NCI|N|
C0346158|A breast fibroadenoma that usually occurs in young women. It is characterized by epithelial hyperplasia and an increased stromal cellularity.|NCI|N|
C0346161|An invasive malignant tumor that originates from the surface epithelium of the ovary. It is composed of malignant epithelial cells and stroma. Representative examples include serous adenocarcinoma, mucinous adenocarcinoma, endometrioid adenocarcinoma, clear cell adenocarcinoma, and malignant Brenner tumor.|MONDO|N|
C0346163|A rare malignant epithelial tumor of ovary characterized by confluent or cribriform proliferations of round, oval, or tubular glands, typically lined by stratified non-mucin-containing epithelium with well-defined luminal margins. Squamous differentiation, secretory changes, oxyphilic variants, sex cord-stromal type patterns, or sertoliform endometrioid carcinomas may occur. Patients most commonly present in the sixth decade of life, either with a pelvic mass with or without pain, or without any symptoms. The tumor may be bilateral and is frequently associated with endometriosis and/or endometrial carcinoma.|ORDO|N|
C0346164|A benign, borderline, or malignant epithelial tumor of the ovary that is characterized by a predominance of clear and hobnail cells.|NCI|N|
C0346166|A benign, borderline, or malignant mixed epithelial tumor of the ovary. It is characterized by the presence of more than one epithelial cell type, most often serous and endocervical-type mucinous.|NCI|N|
C0346167|An aggressive carcinoma arising from the ovary. Most patients present with advanced disease. Microscopically, it is characterized by significant cytologic atypia, increased mitotic activity, and necrosis. The prognosis is usually poor.|NCI|N|
C0346168|A neoplasm that arises from the surface epithelium of the ovary and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential. Representative examples include serous cystadenoma, mucinous cystadenoma, clear cell adenofibroma, and benign Brenner tumor.|NCI|N|
C0346169|A common, benign ovarian tumor that carries a good prognosis. The two most frequent types of cystadenomas are serous and mucinous cystadenomas whereas endometrioid and clear cell cystadenomas are rare.|HPO|N|
C0346170|A cystic tumor of the ovary, containing thin, clear, yellow serous fluid and varying amounts of solid tissue.|HPO|N|
C0346172|A benign neoplasm of the ovary characterized by the presence of cystic structures lined by mucinous columnar epithelial cells.|NCI|N|
C0346175|An aggressive granulosa cell tumor that arises from the ovary.|HPO|N|
C0346178|A rare neoplasm arising from the ovary. Although it may occur at any age, it is more often seen in young females. Morphologically, it is characterized by a mixture of two cellular populations: well differentiated Sertoli cells and granulosa cells, with the latter constituting at least ten percent of the neoplasm. The vast majority of cases are stage I lesions at presentation and produce either estrogenic or androgenic manifestations. Although it may present as a massive ovarian tumor, it usually follows a benign clinical course. Very rare case reports of testicular lesions morphologically resembling gynandroblastomas are in fact variants of juvenile granulose cell tumor, or Sertoli cell tumor, or a combination of both.|NCI|N|
C0346179|A benign Leydig cell tumor which arises in the hilar area of the ovary.|NCI|N|
C0346180|Ovarian germ cell cancers are malignancies that arise from germ cells of the embryonic gonad. Although benign germ cell tumors are relatively common, accounting for approximately 20% of all ovarian neoplasms, malignant ovarian germ cell tumors are rare. Weiss et al. (1977) estimated that less than 5% of ovarian cancers are of germ cell origin.|OMIM|N|
C0346181|A choriocarcinoma arising from the ovary. When it appears before puberty is of germ cell origin. In children and young adults signs and symptoms include precocious pseudopuberty and vaginal bleeding. Serum human chorionic gonadotropin is elevated. Germ cell derived ovarian choriocarcinoma should be differentiated from primary or metastatic gestational choriocarcinoma affecting the ovary. The prognosis of germ cell derived choriocarcinoma is less favorable and requires more aggressive chemotherapy treatment regimens compared to gestational choriocarcinoma.|NCI|N|
C0346182|A rare ovarian germ cell tumor characterized by a unilateral large adnexal mass containing variable amounts of immature embryonal-type tissues (mostly in the form of neuroectodermal tubules and rosettes, sometimes with a component of cellular mitotically active glia), admixed with ectodermal and endodermal elements with varying degrees of maturation. Patients typically present in their first three decades of life with signs and symptoms related to mass effect. The tumor is often associated with the occurrence of innumerable miliary nodules of mature glia in the peritoneum (gliomatosis peritonei) and abdominal lymph nodes.|ORDO|N|
C0346183|An embryonal carcinoma arising from the ovary. Signs and symptoms include the presence of an abdominal mass and abdominal pain.|NCI|N|
C0346184|A germ cell tumor that arises from the ovary. There is no evidence of atypia or metastases. The vast majority of cases are benign dermoid cysts.|NCI|N|
C0346185|A malignant germ cell tumor arising from the ovary. Morphologically, it is identical to seminoma and consists of a monotonous population of germ cells with abundant pale cytoplasm and uniform nuclei. The stroma invariably contains chronic inflammatory cells, mostly T-lymphocytes. It responds to chemotherapy or radiotherapy and the prognosis relates to the tumor stage.|NCI|N|
C0346188|A usually rapidly growing malignant germ cell tumor arising from the ovary. It usually occurs in children and adolescents. Signs and symptoms include abdominal pain and a large abdominal or pelvic mass. The serum alpha-fetoprotein is almost always elevated preoperatively. Morphologically, there is marked heterogeneity due to numerous patterns of differentiation coexisting in the same tumor. The most common pattern is reticular.|NCI|N|
C0346190|A group of rare uterine adnexal tumors comprising non-metastasizing neoplasms arising from the fallopian tube. This includes epithelial tumors (benign serous tumors such as serous adenofibroma and papilloma) and mature teratomas. Patients may be asymptomatic or present with tubal obstruction.|ORDO|N|
C0346191|A carcinoma in situ involving a endometrium.|MONDO|N|
C0346200|A rare benign neoplasm characterized by the presence of smooth muscle cells growing within the veins of the uterine corpus. The intravascular neoplasm growth occurs outside the confines of an adjacent leiomyoma.|NCI|N|
C0346202|An uncommon carcinoma arising from the cervix. It is composed of malignant glandular epithelial cells and malignant squamous epithelial cells.|NCI|N|
C0346203|Stage 0 includes: (Tis, N0, M0). Tis: Carcinoma in situ. N0: No regional lymph node metastasis. M0: No distant metastasis. FIGO no longer includes stage 0. (AJCC 7th ed.)|NCI|N|
C0346208|A superficial neoplastic process involving exclusively the vaginal squamous epithelium without extension to underlying tissue. It is classified as low- or high-grade intraepithelial neoplasia.|NCI|N|
C0346210|Vulvar intraepithelial neoplasia (VIN) is widely accepted as the precursor lesion of vulvar squamous cell carcinoma (VSCC). VSCC arises via either a human papilloma virus (HPV)-associated pathway, or more commonly, via a mechanism independent of HPV, often being linked to chronic inflammatory conditions such as lichen sclerosus (LS). Accordingly, two distinct subtypes of VIN are recognized|HPO|N|
C0346216|A primary or metastatic malignant neoplasm that affects the seminal vesicle.|NCI|N|
C0346217|A neoplasm that arises from the seminal vesicle and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C0346239|A tumor (abnormal growth of tissue) of the epididymis, an duct that transports spermatozoa from the testis to the vas deferens.|HPO|N|
C0346249|Multilocular cystic renal neoplasm of low malignant potential is a rare subtype of clear cell renal cell carcinoma with distinct pathological features of cysts lined by occasionally flattened cuboidal clear cells and septa containing aggregates of epithelial cells with clear cytoplasm, and excellent prognosis. The tumor usually presents as an asymptomatic, unilateral, solitary lesion, macroscopically consisting of numerous, fluid-filled, septated cysts of variable size. Rarely, the symptoms typically associated with renal tumors (flank pain, hematuria, palpable mass) may be present.|ORDO|N|
C0346251|A sarcoma of the kidney.|HPO|N|
C0346253|The presence of an adenoma in the cortex of the kidney.|HPO|N|
C0346255|A renal tumor originating from an oncocyte, which is an epithelial cell characterized by an excessive amount of mitochondria, resulting in an abundant acidophilic, granular cytoplasm.|HPO|N|
C0346256|A hemangiopericytoma arising from the kidney.|NCI|N|
C0346260|A neoplasm involving the renal pelvis.|NCI|N|
C0346267|Stage 0is includes: Tis, N0, M0. Tis: Carcinoma in situ. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C0346269|A growth protruding from the mucous membrane of the ureter. Ureteral polyps can be attached to the ureter by a broad base or a thin stalk.|HPO|N|
C0346280|Stage 0is includes: (Tis, N0, M0); (Tis pu, N0, M0); (Tis pd, N0, M0). Tis: Carcinoma in situ. Tis pu: Carcinoma in situ, involvement of the prostatic urethra. Tis pd: Carcinoma in situ, involvement of the prostatic ducts. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C0346286|A oligodendroglioma that involves the brain.|MONDO|N|
C0346289|A malignant neoplasm that arises from the choroid plexus. The vast majority are carcinomas.|NCI|N|
C0346290|A neoplasm that arises from the choroid plexus and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C0346295|A oligodendroglioma that involves the spinal cord.|MONDO|N|
C0346300|A pituitary tumor with subarachnoid, brain, or systemic metastasis. The diagnosis of a pituitary carcinoma requires evidence of metastatic disease, either outside the central nervous system (CNS) or as separate noncontiguous foci within the CNS.|HPO|N|
C0346302|A pituitary neuroendocrine tumor that produces growth hormone.|NCI|N|
C0346303|A rare, functioning, pituitary adenoma characterized by the presence of a pituitary mass associated with high levels of circulating, free, thyroid hormones in conjunction with normal to high levels of TSH and unresponsiveness of TSH levels to TRH stimulation and T3 suppression tests, typically manifesting with signs and symptoms of mild to moderate hyperthyroidism (e.g. goiter (most frequently observed), palpitation, excessive sweating, arrhythmia, weight loss, tremor) and/or tumor mass effect (such as headache, visual field defects, hypopituitarism). Occasionally, cosecretion of prolactin and/or growth hormone may cause galactorrhea and/or acromegaly.|ORDO|N|
C0346304|Functioning gonadotropic adenoma is a very rare pituitary tumor, macroscopically characterized by a soft, well vascularized, variable sized adenoma, with occasional areas of hemorrage or necrosis, that secretes biologically active gonadotropins. In addition to common neurological signs due to mass effect (headache and/or visual field deterioration), additional clinical manifestations include menstrual irregularities (secondary amenorrhea, oligomenorhea or severe menorrhagia), galactorrhea, infertility or ovarian hyperstimulation syndrome (in premenopausal women), testicular enlargement and, occasionally, hypogonadism (in men) and isosexual precocious puberty (in children).|ORDO|N|
C0346306|A pituitary adenoma that is less than 10 mm in diameter.|HPO|N|
C0346308|A pituitary gland adenoma that is larger than 10mm.|HPO|N|
C0346319|A benign or malignant neoplasm affecting the olfactory or first cranial nerve. Clinical features may include facial pain and impairments of taste or smell.|NCI|N|
C0346323|A primary or metastatic malignant neoplasm that affects the optic nerve.|NCI|N|
C0346326|A glioma originating in the optic nerve or optic chiasm.|HPO|N|
C0346328|A benign tumor of meningothelial cells of the meninges that usually occurs in middle age. It is typically unilateral and there is an association with neurofibromatosis type 2.|HPO|N|
C0346330|A benign or malignant neoplasm affecting the eighth cranial nerve, also referred to as the vestibulocochlear nerve. Clinical features may include hearing loss, vertigo, tinnitus, headache and involvement of the trigeminal or facial nerves.|NCI|N|
C0346331|A primary or metastatic malignant neoplasm affecting the eighth cranial nerve, also referred to as the vestibulocochlear nerve.|NCI|N|
C0346340|A carcinoma that arises from the lacrimal gland. It is characterized by the presence of malignant epithelial cells that form cribriform, tubular, and solid patterns.|NCI|N|
C0346341|An adenocarcinoma that arises from the lacrimal gland.|NCI|N|
C0346342|A carcinoma arising in a pre-existing pleomorphic adenoma in the lacrimal gland.|NCI|N|
C0346345|A benign, usually encapsulated neoplasm of the lacrimal gland composed of epithelial and mesenchymal cells. Pleomorphic adenomas are neoplasms that develop in the salivary glands or heterotopic salivary gland tissues. It has been suggested that myoepithelial cells play a major role in the histogenesis of these tumors. In the lacrimal gland, pleomorphic adenomas presumably develop from metaplastic myoepithelial cells.|NCI|N|
C0346347|A malignant mesenchymal neoplasm with skeletal muscle differentiation that arises from the orbit.|NCI|N|
C0346348|A malignant hemangiopericytoma arising in the orbit.|NCI|N|
C0346351|A capillary hemangioma arising from the orbit.|NCI|N|
C0346352|A cavernous hemangioma arising from the orbit.|NCI|N|
C0346353|A benign or malignant hemangiopericytoma arising from the orbit.|NCI|N|
C0346356|A benign congenital tumor that affects the orbit. It is one of the most common orbital tumors. It is characterized by the presence of a cystic structure that is lined by keratinizing epithelium and contains adnexal structures. Complete surgical excision is curative.|NCI|N|
C0346359|A low-grade squamous cell carcinoma that arises from the conjunctiva. It is the most common primary malignant tumor that arises from the conjunctiva. It usually affects older white males. Excessive exposure to sunlight is a risk factor. Patients may present with a mass, red eye, or pain.|NCI|N|
C0346360|A melanoma that arises from the conjunctiva.|NCI|N|
C0346363|A benign melanocytic nevus that arises from the conjunctiva.|NCI|N|
C0346366|A rare squamous cell carcinoma that arises from the cornea.|NCI|N|
C0346367|A melanoma that arises from the cornea.|NCI|N|
C0346372|A malignant neoplasm that affects the iris. This category includes primary iris melanoma and metastatic malignant neoplasms in the iris.|NCI|N|
C0346373|Malignant tumor of melanocytes affecting the iris.|HPO|N|
C0346374|A neoplasm that arises from the iris and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C0346376|A benign brown pigmented area over the iris representing proliferation of melanocyte cells in the stromal layer of the iris. An iris nevus can be flat or occasionally slightly elevated.|HPO|N|
C0346378|A rare, unilateral, malignant embryonal neoplasm typically presenting as a ciliary body mass during childhood. It arises from primitive medullary epithelium.|NCI|N|
C0346379|Malignant tumor of melanocytes of the ciliary body.|HPO|N|
C0346383|A benign proliferation of the pars plicata epithelium of the ciliary body. It is associated with aging.|NCI|N|
C0346386|A well-circumscribed benign smooth muscle neoplasm arising from the ciliary body of the eye. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.|NCI|N|
C0346388|Malignant tumor of melanocytes of the choroid. The classic appearance of choroidal melanoma is a pigmented dome-shaped or collar button-shaped tumor with an associated exudative retinal detachment. Choroidal melanoma is usually pigmented, but can be variably pigmented and even amelanotic (non-pigmented).|HPO|N|
C0346390|The presence of multiple hemangiomas in the choroid. These are generally reddish or orange or can have increased pigmentation maiking them difficult to distinguish from choroidal melanomas.|HPO|N|
C0346392|A benign, flat or slightly elevated melanocytic lesions of the posterior uveawith clearly defined margins. Choroidal nevi tend they remain stable in size, and to display features such as overlying drusen as well as retinal pigment epithelial atrophy, hyperplasia or fibrous metaplasia.|HPO|N|
C0346396|A rare, unilateral or bilateral benign neoplasm that arises from the retina. There is an increased risk of malignant transformation to retinoblastoma; therefore, patients with a diagnosis of retinocytoma should be closely observed.|NCI|N|
C0346402|A primary or metastatic malignant neoplasm affecting the adrenal cortex.|NCI|N|
C0346406|GRFoma is a type of pancreatic endocrine tumor (see this term) that hypersecretes growth hormone-releasing factor (GRF or GHRH) and that clinically resembles a pituitary adenoma (see this term) as patients present with acromegaly. In addition to the pancreas, this tumor can also occur in the lungs or small intestine, are usually large > 6cm and approximately 1/3 have metastasized at the time of diagnosis. It often co-occurs with Zollinger-Ellison syndrome or multiple endocrine neoplasia type 1 (MEN 1; see these terms).|ORDO|N|
C0346407|PPoma is a type of pancreatic endocrine tumor (see this term) that hypersecretes pancreatic polypeptide (PP) but that does not cause a hypersecretion syndrome (is non-functioning) and instead presents with only non-specific symptoms such as weight loss, abdominal pain, jaundice, diarrhea and/or an abdominal mass, hence leading to a late diagnosis. PPoma can be associated with multiple endocrine neoplasia 1 (MEN-1; see this term).|ORDO|N|
C0346416|A paraganglioma that is confined to the site of origin.|NCI|N|
C0346421|A rare myeloproliferative neoplasm characterized by a clonal proliferation of eosinophilic precursors with persistent increase of eosinophils in peripheral blood and bone marrow, accompanied by increased blasts (<20%) or clonal cytogenetic or molecular genetic abnormalities. Cases with BCR-ABL1, PCM1-JAK2, ETV6-JAK2, or BCR-JAK2 fusion, or rearrangement of PDGFRA, PDGFRB, or FGFR1, are not included in this entity. Infiltration of the liver and spleen, as well as a variety of other organs, is typical. Patients may present with constitutional symptoms and signs and symptoms of organ involvement, such as endomyocardial fibrosis, peripheral neuropathy, central nervous system manifestations, respiratory symptoms, or rheumatological findings. Acute transformation is common.|ORDO|N|
C0346424|A malignant vascular neoplasm arising from the spleen.|NCI|N|
C0346440|A neoplasm that arises from any of the organs in the thoracic cavity and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C0346564|A carcinoma that arises from the base of the tongue. Representative examples include squamous cell carcinoma, adenoid cystic carcinoma, and mucoepidermoid carcinoma.|NCI|N|
C0346609|A primary or metastatic malignant neoplasm that affects the pericardium.|NCI|N|
C0346611|A primary or metastatic malignant neoplasm that affects the myocardium.|NCI|N|
C0346612|A malignant neoplasm that affects the endocardium.|NCI|N|
C0346619|A gastrointestinal system cancer that is located in the proximal esophagus and the distal stomach.|MONDO|N|
C0346627|A primary or metastatic malignant neoplasm involving the small intestine, large intestine, or both. Representative examples are carcinomas, lymphomas, and sarcomas.|NCI|N|
C0346629|Lynch syndrome is characterized by an increased risk for colorectal cancer (CRC) and cancers of the endometrium, ovary, stomach, small bowel, urinary tract, biliary tract, brain (usually glioblastoma), skin (sebaceous adenomas, sebaceous carcinomas, and keratoacanthomas), pancreas, and prostate. Cancer risks and age of onset vary depending on the associated gene. Several other cancer types have been reported to occur in individuals with Lynch syndrome (e.g., breast, sarcomas, adrenocortical carcinoma). However, the data are not sufficient to demonstrate that the risk of developing these cancers is increased in individuals with Lynch syndrome.|GeneReviews|N|
C0346647|A primary or metastatic malignant tumor involving the pancreas. Representative examples include carcinoma and lymphoma.|NCI|N|
C0346648|A malignant neoplasm that arises from the epithelial cells of the exocrine pancreatic tissue.|NCI|N|
C0346770|A malignant neoplasm that arises from the skin appendages.|NCI|N|
C0346787|A melanoma that arises usually from the breast skin and less often from the breast glandular tissue. Primary breast melanomas are rare.|NCI|N|
C0346811|A malignancy that affects the dermis.|NCI|N|
C0346866|A primary or metastatic malignant neoplasm that affects the broad ligament.|NCI|N|
C0346867|A malignant neoplasm involving the round ligament of uterus.|MONDO|N|
C0346902|A cancer involving a dorsal plus ventral thalamus.|MONDO|N|
C0346903|A malignant neoplasm involving the cerebrum.|NCI|N|
C0346935|A Kaposi sarcoma arising from the conjunctiva.|NCI|N|
C0346936|A Kaposi sarcoma arising from the cornea.|NCI|N|
C0346948|A primary or metastatic malignant neoplasm that affects the structures of the chest wall. Representative examples include lymphoma and chondrosarcoma.|NCI|N|
C0346957|Cancer that is spread throughout the body, a metastatic phenomenon.|NCI|N|
C0346973|The spread of a malignant neoplasm to the large intestine. This may be from a primary large intestine malignant neoplasm, or from a malignant neoplasm at a distant site.|NCI|N|
C0346974|The spread of a malignant neoplasm to the colon. This may be from a primary large intestine malignant neoplasm, or from a malignant neoplasm at a distant site.|NCI|N|
C0346975|The spread of a malignant neoplasm to the rectum. This may be from a primary large intestine malignant neoplasm, or from a malignant neoplasm at a distant site.|NCI|N|
C0346976|A malignant neoplasm that has spread to the pancreas from another anatomic site. Representative examples include metastatic carcinomas from the gastrointestinal tract, metastatic melanomas, and renal cell carcinomas.|NCI|N|
C0346979|The spread of a malignant neoplasm from its original site of growth to the bone marrow.|NCI|N|
C0346989|The spread of a malignant neoplasm to the peritoneum from another primary anatomic site.|NCI|N|
C0346990|A condition in which a carcinoma has spread extensively throughout the peritoneum.|NCI|N|
C0346996|A malignant neoplasm that has spread to the cervix from another anatomic site.|NCI|N|
C0346997|A malignant neoplasm that has spread to the vagina from another anatomic site.|NCI|N|
C0346998|A malignant neoplasm that has spread to the vulva from another anatomic site.|NCI|N|
C0347001|The spread of a malignant neoplasm to the prostate gland from an adjacent or distant anatomic site.|NCI|N|
C0347002|The spread of a malignant neoplasm to the penis from an adjacent or distant anatomic site.|NCI|N|
C0347003|A malignant neoplasm that has spread to the testis from another anatomic site.|NCI|N|
C0347004|A malignant neoplasm that has metastasized to the epididymis from another anatomic site.|NCI|N|
C0347007|The spread of a malignant neoplasm to the urinary system from an adjacent or distant anatomic site.|NCI|N|
C0347010|A malignant neoplasm that has spread to the ureter from another anatomic site.|NCI|N|
C0347011|The spread of a malignant neoplasm to the urinary bladder wall from an adjacent or distant anatomic site.|NCI|N|
C0347012|A malignant neoplasm that has spread to the urethra from another anatomic site.|NCI|N|
C0347014|The spread of a malignant neoplasm to the nervous system. This may be from a primary nervous system malignant neoplasm, or from a malignant neoplasm at a distant site.|NCI|N|
C0347015|A malignant neoplasm metastasizing to the pituitary gland from another anatomic site. The vast majority are carcinomas usually arising from the breast, lung, and gastrointestinal tract.|NCI|N|
C0347016|A malignant neoplasm that has spread to the spinal cord from another anatomic site or system. Representative examples include carcinoma, lymphoma, and melanoma.|NCI|N|
C0347019|A malignant neoplasm that has spread to the eye from another anatomic site.|NCI|N|
C0347020|A malignant neoplasm that has spread to the orbit from another anatomic site.|NCI|N|
C0347021|A malignant neoplasm that has spread to the choroid from another anatomic site.|NCI|N|
C0347023|A malignant neoplasm either directly extending to the thyroid gland from adjacent structures (e.g. pharynx, larynx, esophagus, cervical lymph nodes), or spreading to the thyroid gland from distant anatomic sites, most frequently kidney, lung, uterus, breast, and skin. The majority of cases are carcinomas, lymphomas, and melanomas.|NCI|N|
C0347073|A in situ carcinoma that involves the oral cavity.|MONDO|N|
C0347082|Stage 0 includes: Tis, N0, M0. Tis: Carcinoma in situ. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C0347095|A in situ carcinoma that involves the nasal cavity.|MONDO|N|
C0347096|A in situ carcinoma that involves the nasopharynx.|MONDO|N|
C0347098|Stage 0 carcinoma of the pharynx according to the American Joint Committee on Cancer, 6th, 7th, and 8th editions.|NCI|N|
C0347099|Stage 0 includes: Tis, N0, M0. Tis: Carcinoma in situ. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C0347100|A in situ carcinoma that involves the hypopharynx.|MONDO|N|
C0347103|A in situ carcinoma that involves the epiglottis.|MONDO|N|
C0347125|A in situ carcinoma that involves the vermiform appendix.|MONDO|N|
C0347126|Stage 0 includes: Tis, N0, M0. Tis: Carcinoma in situ: intraepithelial or invasion of lamina propria. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C0347129|Anal intraepithelial neoplasia (AIN) is a premalignant lesion of the anal mucosa that is a precursor to anal cancer.|HPO|N|
C0347176|Stage 0 includes: Tis, N0, M0. Tis: Carcinoma in situ (limited to tubal mucosa). N0: No regional lymph node metastasis. M0: No distant metastasis. FIGO no longer includes stage 0. (AJCC 7th ed.)|NCI|N|
C0347180|A precancerous neoplastic lesion that arises from the penis. It is characterized by dysplastic changes of the squamous epithelium with an intact basement membrane.|NCI|N|
C0347184|Stage 0is includes: Tis, N0, M0. Tis: Carcinoma in situ. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C0347197|A neoplasm that arises from the oral cavity and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential. Representative examples include hemangioma, tongue lipoma, and buccal mucosa papilloma.|NCI|N|
C0347201|A neoplasm that arises from the upper or lower gingiva and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C0347203|A non-metastasizing neoplasm that arises from the hard palate, soft palate, or uvula.|NCI|N|
C0347206|A neoplasm that arises from the major or minor salivary glands and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential. Representative examples include Warthin tumor, monomorphic adenoma, and pleomorphic adenoma.|NCI|N|
C0347208|A neoplasm that arises from the sublingual gland and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C0347213|A neoplasm that arises from the middle ear and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C0347215|A neoplasm that arises from the nasal cavity and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential. Representative examples include Schneiderian papilloma and salivary gland-type adenoma.|NCI|N|
C0347222|A neoplasm that arises from the paranasal sinuses and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential. Representative examples include Schneiderian papilloma and salivary gland-type adenoma.|NCI|N|
C0347229|A neoplasm that arises from the oropharynx and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C0347234|A neoplasm that arises from the glottis and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C0347235|A neoplasm that arises from the supraglottis and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C0347236|A neoplasm that arises from the epiglottis and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C0347253|A neoplasm that arises from the myocardium and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C0347254|A neoplasm that arises from the endocardium and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C0347269|A neoplasm that arises from the small or large intestine and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C0347272|A neoplasm that arises from the colon or rectum and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C0347276|A neoplasm that arises from the anus and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C0347284|A neoplasm that arises from the pancreas and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C0347285|A neoplasm that arises from the exocrine pancreas and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C0347312|A neoplasm that arises from the sternum and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C0347354|A neoplasm that arises from the ear and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C0347390|A benign papillary neoplastic growth on the skin composed of epithelial cells and a fibrous stalk. It usually develops in the eyelid, axilla, neck, upper chest, and groin.|NCI|N|
C0347391|A neoplasm that arises from the hair follicles, sebaceous glands, or sweat glands. It is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential. Representative examples include cylindroma, hidrocystoma, hidradenoma, and sebaceoma.|NCI|N|
C0347394|A benign adipose tissue neoplasm arising from the skin.|NCI|N|
C0347396|A vascular neoplasm that arises from the skin and is characterized by the absence of atypical or malignant cytological features, and absence of invasive features or metastatic potential.|NCI|N|
C0347403|A rare non-Langerhans cell histiocytosis characterized by multiple small yellowish-red or brown papules initially erupting predominantly in the head and neck region. The histopathological hallmark of these eventually self-healing lesions is a dermal proliferation of histiocytes with intracytoplasmic comma-shaped bodies, coated vesicles, and desmosome-like structures. Birbeck granules are absent. The disease typically occurs in young children.|ORDO|N|
C0347404|A rare non-Langerhans cell histiocytosis characterized by rapid onset of crops of asymptomatic small red to brown papules, typically distributed symmetrically over the face, trunk, and proximal extremities, occasionally with mucous membrane involvement. The lesions resolve spontaneously without scarring after a variable time span and do not recur in most cases. Histopathology reveals diffuse, uniform dermal infiltration with non-xanthomatous histiocytes staining positive for CD68 and Ki-M1p. Multinucleate giant cells may occasionally be found.|ORDO|N|
C0347418|Fatty tumors on the eyelids.|HPO|N|
C0347423|A benign adipose tissue neoplasm of the external ear.|NCI|N|
C0347429|A benign adipose tissue neoplasm of the axilla.|NCI|N|
C0347446|A benign adipose tissue neoplasm of the spinal cord. It is usually associated with dysraphism in which the intraspinal component communicates with a subcutaneous lipoma through a defect in the posterior elements of the spine. Non-dysraphic intramedullary spinal cord lipomas are very rare.|NCI|N|
C0347481|A neoplasm that arises from connective and soft tissue and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential. Representative examples include lipoma, leiomyoma, fibroma, and osteoma.|NCI|N|
C0347482|A neoplasm that arises from the breast in males and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C0347484|A neoplasm that arises from the broad ligament and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C0347493|A polyp that arises from the surface of the cervix.|NCI|N|
C0347500|A non-metastasizing neoplasm that arises from the Bartholin gland. Representative examples include adenoma and adenomyoma.|NCI|N|
C0347509|A neoplasm that arises from the central nervous system and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C0347515|A meningioma that affects the spinal cord.|NCI|N|
C0347521|A neoplasm that arises from the lacrimal duct and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C0347524|An epithelial neoplasm that arises from an endocrine organ and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential. Representative examples include thyroid gland follicular adenoma and parathyroid gland adenoma.|NCI|N|
C0347646|A hole (perforation) in the wall of the colon.|HPO|N|
C0347780|A partial or complete breakage of the thoracic vertebra.|HPO|N|
C0347805|A partial or complete breakage of the ilium.|HPO|N|
C0347813|A partial or complete breakage of the talus.|HPO|N|
C0347856|A jugulotympanic paraganglioma that metastasizes to other anatomic sites.|NCI|N|
C0347887|A thrombophlebitis that involves the iliac vein.|MONDO|N|
C0347944|An abnormal enlargement or swelling in the pelvic region.|HPO|N|
C0348165|Viral infections of the brain, spinal cord, meninges, or perimeningeal spaces.|MSH|N|
C0348287|A parasitic helminthiasis infectious disease that involves the intestine.|MONDO|N|
C0348321|An infection that is caused by the organism Hemophilus influenza.|NCI|N|
C0348374|A tumor that originates in the pineal gland, has moderate cellularity and tends to form rosette patterns.|HPO|N|
C0348375|A primary or metastatic malignant tumor occurring in the meninges, which surround the brain and spinal cord. The most common are meningiomas.|NCI|N|
C0348393|A neoplasm arising from hematopoietic cells found in the bone marrow, peripheral blood, lymph nodes and spleen (organs of the hematopoietic system). Hematopoietic cell neoplasms can also involve other anatomic sites (e.g. central nervous system, gastrointestinal tract), either by metastasis, direct tumor infiltration, or neoplastic transformation of extranodal lymphoid tissues. The commonest forms are the various types of leukemia, Hodgkin and non-Hodgkin lymphomas, and myelodysplastic syndromes. Check for ""https://www.cancer.gov/about-cancer/treatment/clinical-trials/intervention/C27134"" active clinical trials using this agent. (""http://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI%20Thesaurus&code=C27134"" NCI Thesaurus)|PDQ|N|
C0348424|A benign proliferative neoplasm made up of epithelial and mesenchymal cells of the mesothelium which make up part of the serosal covering and lining of various organ surfaces within the body.|MONDO|N|
C0348426|A neoplasm that arises from the meninges and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C0348828|A respiratory disorder occurring as a consequence of a procedure.|NCI|N|
C0348890|Aplastic anemia without a known cause.|NCI|N|
C0348893|Persistent inflammation of the superficial portion of the gastric mucosa. It is a condition that predisposes to the development of ulcer and mucosa-associated lymphoid tissue lymphoma.|NCI|N|
C0348999|A condition resulting from accidental ingestion of leeches in drinking water. They may attach themselves to the wall of the pharynx, nasal cavity, or larynx.|MONDO|N|
C0349017|A cancer that involves the cauda equina.|MONDO|N|
C0349231|Extreme, irrational, and persistent fears of certain objects, situations, activities, or persons can impede functioning in day-to-day life.|HPO|N|
C0349245|Sudden, involuntary seizure-like attacks that, unlike epileptic seizures, are not related to electrographic ictal discharges.|HPO|N|
C0349255|Insomnia as a result of an extrinsic cause.|NCI|N|
C0349368|A condition of high blood pressure occurring in association with diseases of the endocrine glands.|NCI|N|
C0349410|The failure of an essential system in the body.|NCI|N|
C0349422|Shunting of blood flow from the arterial to the venous side of a hemodialysis access.|NCI|N|
C0349427|An instance of bilirubin metabolism disease that is caused by an inherited modification of the individual's genome.|MONDO|N|
C0349458|Squamous or glandular cervical intraepithelial neoplasia characterized by the presence of mild dysplastic changes.|NCI|N|
C0349459|Cervical squamous intraepithelial neoplasia characterized by the presence of maturation in the upper half of the squamous epithelium and conspicuous nuclear atypia which is present in all epithelial layers. Mitotic figures are present in the basal two thirds of the epithelium.|NCI|N|
C0349464|A psychotic syndrome caused by damage to the brain by lack of thiamine (vitamin B1). Signs and symptoms include anterograde and retrograde amnesia, confabulation, apathy, ataxia, and coma.|NCI|N|
C0349467|A condition characterized by a temporary imbalance between the oxygen supply and demand of the heart muscle in the newborn.|NCI|N|
C0349468|Aspiration of meconium, blood, amniotic fluid or gastric contents around the time of delivery resulting in clinical symptoms from airway obstruction, parenchymal injury, and ventilation-perfusion mismatch. This may lead to persistent pulmonary hypertension in the newborn.|NCI|N|
C0349470|Inhalation of fluid from the amniotic sac into the lungs by the neonate.|NCI|N|
C0349476|An enlargement of the thyroid gland with congenital onset.|HPO|N|
C0349482|Infants whose BIRTH WEIGHT is larger than the 90th percentile for a given gestational age.|MSH|N|
C0349486|Reduced concentration of thyroid hormone(s), usually associated with a non-thyroidal illness, that resolves spontaneously.|NCI|N|
C0349489|Hypoxia in utero, caused by conditions such as inadequate placental function (often abruptio placentae), preeclamptic toxicity, prolapse of the umbilical cord, or complications from anesthetic administration.|NCI|N|
C0349499|A fetopathy that is likely to occur when a cytomegalovirus (CMV) infected pregnant woman transmits the virus <i>in utero</i>. Children born with congenital CMV infection may present with hepatomegaly, splenomegaly, jaundice, pneumonitis, fetal growth retardation, petechiae, purpura, and thrombocytopenia. Congenital CMV infection can equally result in major neurological sequelae, including microcephaly, intracranial calcifications, sensorineural hearing loss, chorioretinitis, intellectual and motor disabilities, and seizure disorders. CMV disease sequelae caused by a primary infection are usually more severe than those caused by the reactivation of a latent infection.|ORDO|N|
C0349500|Failure to pass meconium (the first stool following birth) in the first 48 hours of life.|HPO|N|
C0349501|A neoplasm that arises from melanocytes in the skin.|NCI|N|
C0349502|A benign tumor that possesses various epidermal derivatives and is due to sequestration of skin along the lines of embryonic closure.|NCI|N|
C0349506|An increased sensitivity of the skin to light. Photosensitivity may result in a rash upon exposure to the sun (which is known as photodermatosis). Photosensitivity can be diagnosed by phototests in which light is shone on small areas of skin.|HPO|N|
C0349515|A rare cutaneous melanoma where most of the melanoma tumor cells are devoid of melanin pigment. Amelanotic melanomas are more likely to present at a more advanced stage of disease, compared with pigmented melanomas.|NCI|N|
C0349526|A benign neoplasm arising from the dermis. It is characterized by the presence of neoplastic fibroblasts without malignant characteristics.|NCI|N|
C0349527|A neoplasm arising from the dermis. It is characterized by the presence of neoplastic fibroblasts.|NCI|N|
C0349529|A well differentiated, low grade neuroendocrine neoplasm (carcinoid tumor) that arises from the stomach. The vast majority of cases arise from the corpus-fundus region. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent. It may be associated with autoimmune chronic atrophic gastritis, multiple endocrine neoplasia type 1, or it may be sporadic.|NCI|N|
C0349530|An invasive adenocarcinoma confined to the mucosa or mucosa and submucosa of the gastric wall. The regional lymph nodes may or may not be involved. It usually occurs in the lesser curvature. The 5-year survival rate following resection is between 80 percent and 95 percent, and remains high even when lymph node metastases are present.|NCI|N|
C0349532|Lymphoma that originates in the stomach itself.|HPO|N|
C0349534|A carcinoma arising in the anal margin or perianal skin (below the anal verge and involving the perianal hair-bearing skin). It includes basal cell and squamous cell carcinoma. Anal margin carcinoma is staged as a skin carcinoma, separately from anal canal carcinoma.|NCI|N|
C0349535|A well differentiated, low grade neuroendocrine neoplasm (carcinoid tumor) that arises from the small or large intestine. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent.|NCI|N|
C0349536|A well differentiated, low grade neuroendocrine neoplasm (carcinoid tumor) that arises from the small intestine. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent.|NCI|N|
C0349538|A melanoma arising from the anus. Clinical presentation includes rectal bleeding, tenesmus, pain, and change in bowel habit. The prognosis is usually poor.|NCI|N|
C0349539|An aggressive malignant melanocytic neoplasm that arises from the rectum.|NCI|N|
C0349540|A low or high grade astrocytoma that arises in the spinal cord.|NCI|N|
C0349541|A grade 3 or 4 glioma that arises from the brain. This category includes anaplastic astrocytoma, anaplastic ependymoma, anaplastic oligoastrocytoma, anaplastic oligodendroglioma, anaplastic pleomorphic xanthoastrocytoma (all grade 3 gliomas), and glioblastoma (grade 4 glioma).|NCI|N|
C0349543|A glioblastoma that arises from the brain, usually the cerebral hemispheres.|NCI|N|
C0349551|A rare squamous cell carcinoma that arises from the scrotum. It has been associated with exposure to environmental and industrial carcinogens. The prognosis depends on the extent of lymph node involvement.|NCI|N|
C0349554|Vaginal intraepithelial neoplasia characterized by the presence of koilocytosis and disorganization and thickening of the basal layer.|NCI|N|
C0349555|Vaginal intraepithelial neoplasia characterized by the presence of nuclear intraepithelial neoplastic changes in the lower two-thirds of the epithelium and parakeratosis.|NCI|N|
C0349557|A form of gestational trophoblastic neoplasia characterized histologically by trophoblast proliferation, absence of chorionic villi (except in cases of intraplacental choriocarcinoma) and tissue necrosis with bleeding. The tumor occurs secondary to pregnancy (ectopic or normal), miscarriage, voluntary termination of pregnancy (VTP) or a hydatidiform mole. Indicative signs are persistent unexplained metrorrhagia or secondary increase, stagnation, or non-normalization at 6 months of total serum chorionic gonadotropin (hCG) levels after removal of a hydatidiform mole; persistent unexplained metrorrhagia following spontaneous abortion or VTP; occasionally unexplained metrorrhagia in the weeks or months following normal childbirth or an ectopic pregnancy. Occasionally, metastases (lung, liver, brain, kidneys, vagina) are indicative signs in women of childbearing age.|ORDO|N|
C0349561|A cancer arising in a cell of the Bartholin gland, a racemose gland located slightly posterior to the opening of the vagina.|HPO|N|
C0349565|A benign, mesenchymal neoplasm that arises from the breast. It is surrounded by a thin capsule and composed of mature adipose tissue cells. Atypia is absent.|NCI|N|
C0349566|A carcinoma derived from a squamous epithelial cell of the tongue.|HPO|N|
C0349568|A squamous cell carcinoma that arises from the hard or soft palate.|NCI|N|
C0349571|A benign, slow-growing tumor that arises from the parotid gland. It is composed of cells that demonstrate both epithelial and mesenchymal differentiation. It is the most common neoplasm of salivary gland origin and women are more often affected than men.|NCI|N|
C0349574|A benign or malignant neoplasm that affects the pericardium.|NCI|N|
C0349575|A benign or malignant neoplasm that affects the external ear. Representative examples include ceruminous adenoma, polyp, and carcinoma.|NCI|N|
C0349576|A malignant neoplasm that affects the external ear. Representative examples include squamous cell carcinoma, basal cell carcinoma, and ceruminous adenocarcinoma.|NCI|N|
C0349577|A neoplasm that arises from the external ear and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential. Representative examples include ceruminous adenoma, polyp, and lipoma.|NCI|N|
C0349578|A hyperplasia characterized by excessive proliferation of endometrial cells, resulting in the formation of complex epithelial structures. Epithelial atypia may be present or absent.|NCI|N|
C0349579|An endometrial hyperplasia characterized by cytologic and architectural changes which may lead to endometrial carcinoma. Despite the atypical features and possible course, there is debate on whether to consider this a neoplasm. The relationship with endometrial intraepithelial neoplasia is also unclear.|MONDO|N|
C0349582|A benign schwannoma occurring in the trigeminal nerve.|NCI|N|
C0349588|A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).|HPO|N|
C0349604|A meningioma that arises within the cranial cavity.|NCI|N|
C0349606|A fluid-filled sac (cyst) located within the central nervous system.|HPO|N|
C0349611|A hamartoma that occurs in the brain.|NCI|N|
C0349613|An intraepithelial carcinoma of the middle ear without evidence of invasion.|NCI|N|
C0349615|A germ cell tumor that arises from the suprasellar region.|NCI|N|
C0349620|A WHO Grade 1 astrocytoma which arises in the cerebellum. The tumor is composed of spindle shaped cells with numerous collections of reddish astrocytic fibers called Rosenthal fibers. Over 80% or the cerebellar astrocytomas of childhood are pilocytic. Pilocytic astrocytomas may rarely occur in adults. They are usually treated by surgical resection and in most cases have a favorable prognosis.|NCI|N|
C0349621|A germ cell tumor that arises in the pineal region. Representative examples include teratoma, germinoma, and choriocarcinoma.|NCI|N|
C0349622|A solitary fibrous tumor that arises from the meninges.|NCI|N|
C0349626|Primary melanoma of the central nervous system is a rare tumor of meninges arising from leptomeningeal melanocytes, typically in the perimedullary or high cervical region, in the absence of melanoma outside the CNS. The tumor is typically a darkly pigmented, solid mass, often containing hemorrhagic or necrotic areas, composed of sheets of pleomorphic cells with prominent nucleoli, with frequent mitotic figures and parenchymal invasion. Intracranial tumor may present with signs of raised intracranial pressure, focal neurological symptoms related to tumor location, seizures or subarachnoid hemorrhage, spinal tumor may present with back pain, muscle weakness, numbness, plegia or urinary incontinence.|ORDO|N|
C0349631|Transformation of chronic lymphocytic leukemia into aggressive non-Hodgkin lymphoma, usually diffuse large B-cell lymphoma (immunoblastic or centroblastic variant). Occasional cases of transformation to Hodgkin lymphoma have also been described, particularly in patients treated with purine nucleotide analogues. Molecular genetic studies suggest that in approximately half of the cases, the lymphoma is clonally related to the underlying chronic lymphocytic leukemia, whereas in the remaining cases the lymphoma probably represents a secondary, unrelated neoplasm.|NCI|N|
C0349632|A rare indolent B-cell non-Hodgkin lymphoma characterized by abnormal clonal proliferation of mature B-lymphocytes with involvement in the spleen, bone marrow and, frequently, the blood. It usually presents with splenomegaly, lymphocytosis, anemia and/or thrombocytopenia. Hepatitis C virus and autoimmune manifestations, such as autoimmune hemolytic anemia and autoimmune thrombocytopenia could be associated.|SNOMEDCT_US|N|
C0349633|A rare, malignant splenic B-cell lymphoma/leukemia characterized by circulating abnormal lymphocytes with intermediate morphology between prolymphocytes and hairy cells with positive expression of CD11c and negative expression of CD25, CD123 and the BRAFV600E mutation. Manifestations include splenomegaly, elevated white blood cell (WBC) count, hyper-cellular bone marrow and anemia/thrombocytopenia, but no monocytopenia.|ORDO|N|
C0349636|A type of ALL characterized by elevated levels of B-cell lymphoblasts in the bone marrow and the blood.|HPO|N|
C0349639|Juvenile myelomonocytic leukemia is an aggressive pediatric myelodysplastic syndrome (MDS)/myeloproliferative disorder (MPD) characterized by malignant transformation in the hematopoietic stem cell compartment with proliferation of differentiated progeny (Loh et al., 2009). JMML constitutes approximately 30% of childhood cases of myelodysplastic syndrome and 2% of leukemia (Hasle et al., 1999). Although JMML is a progressive and often rapidly fatal disease without hematopoietic stem cell transplantation (HSCT), some patients have been shown to have a prolonged and stable clinical course without HSCT (Niemeyer et al., 1997). Chronic myelomonocytic leukemia (CMML) is a similar disorder with later onset. Both JMML and CMML have a high frequency of mutations affecting the RAS signaling pathway and show hypersensitivity to stimulation with GM-CSF, which causes STAT5 (601511) hyperphosphorylation (Loh et al., 2009).
Genetic Heterogeneity of Juvenile Myelomonocytic Leukemia
In up to 60% of cases of JMML, the RAS/MAPK pathway is deregulated due to somatic mutations in the PTPN11 (176876), KRAS (190070), and NRAS (164790) genes. Additionally, both germline and somatic mutations in the CBL gene have been found in patients with JMML, indicating a frequency of 10 to 15% of JMML patients overall (Loh et al., 2009). Somatic disruptions of the GRAF gene (ARHGAP26; 605370) have also been found in patients with JMML.
About 10 to 15% of JMML cases arise in children with neurofibromatosis type I (NF1; 162200) due to germline mutations in the NF1 gene (613113). In addition, patients with Noonan syndrome (NS1, 163950; NS3, 609942) or Noonan syndrome-like disorder (NSLL; 613563) due to germline mutations in the PTPN11, KRAS2, and CBL genes, respectively, also have an increased risk of developing JMML.
Genetic Heterogeneity of Chronic Myelomonocytic Leukemia
Somatic mutations in the CBL, ASXL1 (612990), TET2 (612839), and SF3B1 (605590) genes have been found in patients with CMML.|OMIM|N|
C0349644|A lymphoma that arises from the testis and is not associated with lymphoma in another anatomic site.|NCI|N|
C0349649|A rare, multiple cystic lung disease characterized by progressive cystic destruction of the lung and lymphatic abnormalities, frequently associated with renal angiomyolipomas (AMLs).|ORDO|N|
C0349653|PMM2-CDG, the most common of a group of disorders of abnormal glycosylation of N-linked oligosaccharides, is divided into three clinical stages: infantile multisystem, late-infantile and childhood ataxia–intellectual disability, and adult stable disability. The clinical manifestations and course are highly variable, ranging from infants who die in the first year of life to mildly affected adults. Clinical findings tend to be similar in sibs. In the infantile multisystem presentation, infants show axial hypotonia, hyporeflexia, esotropia, and developmental delay. Feeding problems, vomiting, faltering growth, and developmental delay are frequently seen. Subcutaneous fat may be excessive over the buttocks and suprapubic region. Two distinct clinical courses are observed: (1) a nonfatal neurologic course with faltering growth, strabismus, developmental delay, cerebellar hypoplasia, and hepatopathy in infancy followed by neuropathy and retinitis pigmentosa in the first or second decade; and (2) a more severe neurologic-multivisceral course with approximately 20% mortality in the first year of life. The late-infantile and childhood ataxia–intellectual disability stage, which begins between ages three and ten years, is characterized by hypotonia, ataxia, severely delayed language and motor development, inability to walk, and IQ of 40 to 70; other findings include seizures, stroke-like episodes or transient unilateral loss of function, coagulopathy, retinitis pigmentosa, joint contractures, and skeletal deformities. In the adult stable disability stage, intellectual ability is stable; peripheral neuropathy is variable, progressive retinitis pigmentosa and myopia are seen, thoracic and spinal deformities with osteoporosis worsen, and premature aging is observed; females may lack secondary sexual development and males may exhibit decreased testicular volume. Hypogonadotropic hypogonadism and coagulopathy may occur. The risk for deep venous thrombosis is increased.|GeneReviews|N|
C0349655|Congenital disorders of glycosylation (CDGs) are divided into 2 main groups: type I CDGs (see, e.g., 212065) comprise defects in the assembly of the dolichol lipid-linked oligosaccharide (LLO) chain and its transfer to the nascent protein, whereas type II CDGs (see, e.g., 212066) refer to defects in the trimming and processing of the protein-bound glycans either late in the endoplasmic reticulum or the Golgi compartments. Conventionally, untyped and unclassified cases are labeled 'CDG-x' (Orlean, 2000; Marquardt and Denecke, 2003).
The phenotypes described in this entry most likely do not represent a single disorder, but have been referred by the authors as CDG-x and are included here pending further molecular characterization. In a review of CDGs, Marquardt and Denecke (2003) stated that more than 20% of CDG patients identified still cannot be ascribed to a known enzyme defect and are thus named CDG-x.|OMIM|N|
C0349656|A squamous cell carcinoma of the skin with a prominent spindle cell component.|NCI|N|
C0349657|A verrucous carcinoma that arises from the plantar aspect of the foot.|NCI|N|
C0349658|A benign hair follicle tumor whose tumor cells form rudimentary hair follicles but not actual hair shafts. A trichoepithelioma is usually less than one centimeter, firm, round, and shihy with yellow, pink, brown, or bluish color. They may occur multiply, usually on the face, and may gradually increase in number with age.|HPO|N|
C0349659|A malignant mesenchymal neoplasm with skeletal muscle differentiation arising from the bladder.|NCI|N|
C0349661|A malignant glioma that involves the brain.|MONDO|N|
C0349663|A malignant teratoma that involves the mediastinum.|MONDO|N|
C0349666|A malignant mesenchymal cell neoplasm that affects the urinary bladder.|NCI|N|
C0349667|A malignant mesenchymal neoplasm that arises from the breast. Representative examples include angiosarcoma, liposarcoma, leiomyosarcoma, rhabdomyosarcoma, and extraskeletal osteosarcoma.|NCI|N|
C0349671|A sex cord-stromal tumor that arises from the testis and is characterized by the presence of neoplastic cells with features of Sertoli cells. It usually presents as a slow growing testicular mass. The vast majority of cases follow a benign clinical course.|NCI|N|
C0349672|A usually aggressive invasive adenocarcinoma of the prostate gland composed of large glands containing tall columnar cells. The columnar cells have abundant cytoplasm and are reminiscent of endometrial carcinoma. This type of adenocarcinoma has a tendency to metastasize to the lung and penis.|NCI|N|
C0349675|Acute Promyelocytic leukemia characterized by the presence of hypergranular promyelocytes and characteristic cells that contain bundles of Auer rods.|NCI|N|
C0349680|An acute leukemia of ambiguous lineage in which there is a dual population of blasts with each population expressing markers of a distinct lineage (myeloid and lymphoid or B-and T-lymphocyte). (WHO, 2001)|NCI|N|
C0349702|Replacement of corneal tissue with scar tissue as a result of injury to the deeper layers of the cornea.|NCI|N|
C0349705|Anomaly in the level or the function of hemoglobin, the oxygen-carrying protein of erythrocytes.|HPO|N|
C0349735|An infectious process affecting the ovary.|NCI|N|
C0349744|An overwhelming, irrational, and persistent fear of taking and failing tests.|NCI|N|
C0349749|A benign or malignant neoplasm that affects the lacrimal duct.|NCI|N|
C0349752|Venous air embolism is a consequence of air being introduced into the venous circulation, and subsequently to the right heart, and pulmonary circulation. When small amounts of air reach pulmonary circulation they can be removed by gas diffusion across the arteriolar wall into the alveoli, amounts of gas exceeding 50 ml can cause pulmonary outflow tract obstruction with or without concomitant arterial embolisation.|HPO|N|
C0349756|Narrowing of the lumen of an arteriovenous graft.|NCI|N|
C0349757|Partial or complete occlusion of the lumen of an arteriovenous graft by a thrombus.|NCI|N|
C0349761|A bulge in a weakened wall segment of an arteriovenous graft.|NCI|N|
C0349788|Arrhythmogenic right ventricular cardiomyopathy (ARVC) – previously referred to as arrhythmogenic right ventricular dysplasia (ARVD) – is characterized by progressive fibrofatty replacement of the myocardium that predisposes to ventricular tachycardia and sudden death in young individuals and athletes. It primarily affects the right ventricle, and it may also involve the left ventricle. The presentation of disease is highly variable even within families, and some affected individuals may not meet established clinical criteria. The mean age at diagnosis is 31 years (±13; range: 4-64 years).|GeneReviews|N|
C0349790|An asthma that is characterized by severe and sudden onset of increasing wheezing, airways closing, smooth muscle contraction, mucus plugging and lower airway edema that may be reversible upon treatment.|MONDO|N|
C0362030|A type of epidermal nevus (which represent Blaschkoid hamartomas of the skin that result from mosaic post-zygotic mutations) that appears as skin-colored-to-brown, sharply demarcated, papillomatous papules that coalesce into plaques. The majority of these nevi are either present at birth or occur within the first year of life.|HPO|N|
C0362046|Characterized by blood glucose levels that are higher than normal but not yet high enough to be classed as diabetes. Indicates a relatively high risk for the future development of diabetes.|SNOMEDCT_US|N|
C0362051|A malignant neoplasm arising in multiple primary sites.|NCI|N|
C0370152|A type of acellular urinary casts that display a melted wax (waxy) appearance, which gives them a high refractive index. They are frequently dark, with blunt extremities, indented and cracked edges and a large size, which is often several times that of other types of casts.|HPO|N|
C0375028|A gonococcal infection of the upper urinary tract that is rapid in onset.|NCI|N|
C0375071|A primary or metastatic malignant neoplasm involving the vulva.|NCI|N|
C0375206|Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a severe or complete loss of strength, whereas hemiparesis refers to a relatively mild loss of strength.|HPO|N|
C0375268|Acute inflammation of the endocardium. Bacteria is the usual etiologic agent, and the distinction between ""acute"" and ""subacute"" has traditionally been made based on the pathogenic organism and clinical presentation.|NCI|N|
C0375511|Large or prominent malar surface of the zygomatic bone of the skull, which is convex and forms the prominence of the 'cheek bones'.|HPO|N|
C0376175|Facial nerve palsy is a dysfunction of cranial nerve VII (the facial nerve) that results in inability to control facial muscles on the affected side with weakness of the muscles of facial expression and eye closure. This can either be present in unilateral or bilateral form.|HPO|N|
C0376185|Hypoaldosteronism characterized by hyperkalemia and inappropriately low renin activity. This condition may be caused by a primary renal disorder, drugs or autoimmune processes.|NCI|N|
C0376286|A condition due to a deficiency of one or more essential vitamins. (Dorland, 27th ed)|MSH|N|
C0376297|The cessation of life due to heart abnormalities or disease.|NCI|N|
C0376300|A dengue disease that involves the most severe form of dengue fever, has material basis in Dengue virus [NCBITaxon:12637] with four serotypes (Dengue virus 1, 2, 3 and 4), which are transmitted by Aedes mosquito bite. The infection has symptom easy bruising, has symptom blood spots, has symptom bleeding gums, and has symptom nosebleeds. It is accompanied by circulatory collapse, involves hypotension, narrow pulse pressure (less than or equal to 20mm Hg), or frank shock. The shock occurs after two to six days of symptoms, followed by collapse, weak pulse, and blueness around the mouth.|MONDO|N|
C0376319|A rare soft tissue tumor characterized by a benign space occupying lesion in neonates, most typically located on the gingival mucosa overlying the anterior alveolar ridge of the maxilla near the canine, although the mandibular region may also be involved. Females are much more frequently affected than males. The tumor mostly presents as a single lesion, potentially interfering with feeding and respiration. Metastasis, malignant transformation, or recurrence after excision have not been reported.|ORDO|N|
C0376322|The covalent chemical or post-translational biochemical addition of carbohydrate or glycosyl groups to peptides or proteins by glycosyl transferases.|NCI|N|
C0376329|A rare acquired human prion disease characterized by a progressive, invariably fatal neuropsychiatric disorder resulting from transmission via consumption of products from prion-diseased cows or via blood transfusion from an affected individual. Patients typically present early psychiatric symptoms (such as depression, anxiety, apathy, withdrawal, and delusions), as well as persistent painful sensory symptoms, ataxia, myoclonus, chorea, or dystonia, and dementia. Brain MRI often shows bilateral FLAIR hyperintensities involving the pulvinar thalamic nuclei. Neuropathological examination reveals spongiform change and extensive deposition of abnormal prion protein with florid plaques throughout the cerebrum and cerebellum.|ORDO|N|
C0376356|A combination of distressing physical, psychologic, or behavioral changes that occur during the luteal phase of the menstrual cycle. Symptoms of pms are diverse (such as pain, water-retention, anxiety, cravings, and depression) and they diminish markedly 2 or 3 days after the initiation of menses.|MONDO|N|
C0376358|A cancer of the prostate.|HPO|N|
C0376378|A neurologic syndrome following injury of the spinal sympathetic nerves of the neck. The injury usually results from arthritis or pinching by the adjacent vertebrae. Symptoms include facial pain, chronic allergies, dizziness, neck pain, ear pain and vertigo.|MONDO|N|
C0376407|Granulomatous slack skin (GSS) is a variant of mycosis fungoides (MF; see this term), a form of cutaneous T-cell lymphoma, and is characterized by the presence of circumscribed areas of pendulous lax skin.|ORPHANET|N|
C0376408|A malignant (clonal) hematologic disorder, involving hematopoietic stem cells and characterized by the presence of primitive or atypical myeloid or lymphoid cells in the bone marrow and the blood which occurs in cattle|NCI|N|
C0376415|Pathological conditions (Disorder, SYNDROME, or DISEASE) whose SIGNS AND SYMPTOMS manifest late in the life of an individual.|MSH|N|
C0376452|The process by which methyl groups are added to nucleotides in genomic DNA.|NCI|N|
C0376480|Hyperplasia of the gingiva (that is, a thickening of the soft tissue overlying the alveolar ridge. The degree of thickening ranges from involvement of the interdental papillae alone to gingival overgrowth covering the entire tooth crown.|HPO|N|
C0376524|The branchiooculofacial syndrome (BOFS) is characterized by: branchial (cervical or infra- or supra-auricular) skin defects that range from barely perceptible thin skin or hair patch to erythematous "hemangiomatous" lesions to large weeping erosions; ocular anomalies that can include microphthalmia, anophthalmia, coloboma, and nasolacrimal duct stenosis/atresia; and facial anomalies that can include ocular hypertelorism or telecanthus, broad nasal tip, upslanted palpebral fissures, cleft lip or prominent philtral pillars that give the appearance of a repaired cleft lip (formerly called "pseudocleft lip") with or without cleft palate, upper lip pits, and lower facial weakness (asymmetric crying face or partial 7th cranial nerve weakness). Malformed and prominent pinnae and hearing loss from inner ear and/or petrous bone anomalies are common. Intellect is usually normal.|GeneReviews|N|
C0376527|A benign or malignant neoplasm that affects the skull base.|NCI|N|
C0376532|Rolandic epilepsy (RE) is a focal childhood epilepsy characterized by seizures consisting of unilateral facial sensory-motor symptoms, with electroencephalogram (EEG) showing sharp biphasic waves over the rolandic region. It is an age-related epilepsy, with excellent outcome.|ORDO|N|
C0376538|A syndrome characterized by outbreaks of late term abortions, high numbers of stillbirths and mummified or weak newborn piglets, and respiratory disease in young unweaned and weaned pigs. It is caused by PORCINE RESPIRATORY AND REPRODUCTIVE SYNDROME VIRUS. (Radostits et al., Veterinary Medicine, 8th ed, p1048)|MSH|N|
C0376544|A neoplasm arising from hematopoietic cells found in the bone marrow, peripheral blood, lymph nodes and spleen (organs of the hematopoietic system). Hematopoietic cell neoplasms can also involve other anatomic sites (e.g. central nervous system, gastrointestinal tract), either by metastasis, direct tumor infiltration, or neoplastic transformation of extranodal lymphoid tissues. The commonest forms are the various types of leukemia, Hodgkin and non-Hodgkin lymphomas, myeloproliferative neoplasms, and myelodysplastic syndromes.|NCI|N|
C0376545|Neoplasms located in the blood and blood-forming tissue (the bone marrow and lymphatic tissue).|HPO|N|
C0376549|Infection with roseolovirus, the most common in humans being exanthema subitum, a benign disease of infants and young children.|MONDO|N|
C0376550|Infections with astrovirus, causing gastroenteritis in human infants, calves, lambs, and piglets.|MONDO|N|
C0376551|Infections with viruses of the genus RUBULAVIRUS, family PARAMYXOVIRIDAE.|MSH|N|
C0376618|A condition characterized by the presence of ENDOTOXINS in the blood. On lysis, the outer cell wall of gram-negative bacteria enters the systemic circulation and initiates a pathophysiologic cascade of pro-inflammatory mediators.|MSH|N|
C0376620|Acute inflammation in the intestinal mucosa of the continent ileal reservoir (or pouch) in patients who have undergone ileostomy and restorative proctocolectomy (proctocolectomy, restorative).|MONDO|N|
C0376628|Elevated rate of chromosomal breakage or interchanges occurring either spontaneously or following exposure to various DNA-damaging agents. This feature may be assayed by treatment of cultured lymphocytes with agents such as chemical mutagens, irradiation, and alkylating agents.|HPO|N|
C0376634|Congenital structural deformities, malformations, or other abnormalities of the cranium and facial bones.|MSH|N|
C0376669|A process that results in the breaking of macromolecular DNA into small pieces.|NCI|N|
C0376670|Acute or chronic inflammation of the pancreas due to excessive alcohol drinking. Alcoholic pancreatitis usually presents as an acute episode but it is a chronic progressive disease in alcoholics.|MONDO|N|
C0376685|Trapping and compression of the rotator cuff tendons during shoulder movements.|HPO|N|
C0376705|The number of viral particles (usually HIV) in a sample of blood plasma.|NCI|N|
C0376710|The most common kind of HIATAL HERNIA in which the ESOPHAGOGASTRIC JUNCTION slides above the DIAPHRAGM into the THORAX.|MSH|N|
C0391816|Tietz albinism-deafness syndrome (TADS) is characterized by generalized pigment loss and congenital complete sensorineural hearing loss (summary by Izumi et al., 2008).|OMIM|N|
C0391817|Drug-induced autoimmune hemolytic anemia is a type of autoimmune hemolytic anemia (AIHA; see this term) that occurs as a reaction to therapeutic drugs, and can be due to various mechanisms.|ORDO|N|
C0391826|It is a rare, slowly growing tumor of the cerebellum, a gangliocytoma sometimes considered to be a hamartoma, characterized by diffuse hypertrophy of the granular layer of the cerebellum.|HPO|N|
C0391853|A reduction in the normal physical activity for an individual.|NCI|N|
C0391869|Polycythemia that is caused by excess erythropoietin.|NCI|N|
C0391870|Any structural abnormality of erythrocytes (red-blood cells).|HPO|N|
C0392005|A non-midline cleft of the upper lip on the left and right sides.|HPO|N|
C0392006|A non-midline cleft of the upper lip on one side only.|HPO|N|
C0392008|pathologic processes that affect patients after administration of anesthesia.|CSP|N|
C0392025|Increasing girth of the mid section of an individual.|NCI|N|
C0392037|The attachment of leeches to the skin. After the leeches drop off, bleeding may continue as a result of the action of hirudin. Bites may become infected or ulcerate.|MONDO|N|
C0392041|Ischemic necrosis of the testis usually caused by torsion of the spermatic cord, trauma, or severe epididymo-orchitis.|NCI|N|
C0392050|A premalignant pathologic process that affects the mucosal epithelium of the larynx. It appears as a localized or diffuse white patch on the laryngeal mucosa. Morphologically it is characterized by the pathologic production of keratin in the mucosal epithelial surface with or without epithelial atypia. It may progress to or co-exist with invasive squamous cell carcinoma.|NCI|N|
C0392051|A form of lymphadenitis that is characterized by formation of pus; it is most often caused by staphylococcal or streptococcal bacteria.|NCI|N|
C0392053|The presence of more than one genetically distinct cell line in germ and/or somatic cells.|NCI|N|
C0392077|Sarcoidosis affecting the tissues of the heart.|NCI|N|
C0392109|Congenital tracheomalacia is a rare condition where the trachea is soft and flexible causing the tracheal wall to collapse when exhaling, coughing or crying, that usually presents in infancy, and that is characterized by stridor and noisy breathing or upper respiratory infections. Tracheomalacia improves by the age of 18-24 months.|ORPHANET|N|
C0392156|A state of motor restlessness, usually in the lower extremities, that is often but not always accompanied by a subjective sense of inner restlessness, an urge to move, and anxiety or dysphoria.|HPO|N|
C0392163|An erosion or abrasion of the cornea's outermost layer of epithelial cells.|HPO|N|
C0392171|Complaints describing a pattern similar to influenza, which may include one or more of the following symptoms: fever, chills, muscle or body aches, cough, sore throat, rhinitis, or fatigue.|NCI|N|
C0392175|Bleeding originating from the kidney.|NCI|N|
C0392178|An increased lipid content in the urine.|HPO|N|
C0392180|Placental tissue death.|NCI|N|
C0392185|Palilalia is the involuntary repetition of one's own phrases, words, or syllables 2 or more times in a row. Typically, palilalic utterances decrease in volume with the increasing number of repetitions. Sometimes, the repetitions are also uttered with an accelerating speed.|HPO|N|
C0392188|Abnormality of REM Sleep are phases of REM sleep are characterized by desynchronized EEG patterns, increases in heart rate and blood pressure, sympathetic activation, and a profound loss of muscle tone except for the eye and middle-ear muscles. There are also phases of rapid eye movements.|HPO|N|
C0392190|Inflammation of the mouth mucosa caused by head and neck radiation therapy. Signs and symptoms include dry mouth due to lack of saliva, mucosal ulcerations and diffuse erythema of the mouth, taste alteration, and dysphagia.|NCI|N|
C0392194|Dyspnea only in one side of lateral decubitus body position.|MSH|N|
C0392209|The state of the body as influenced by the diet and the ability of the diet to maintain an overall healthy condition.|NCI|N|
C0392318|A viral (such as mumps) or bacterial infectious process affecting the salivary gland. The salivary gland becomes enlarged and is often painful.|NCI|N|
C0392322|A subtype of schizophrenia in which the individual exhibits the characteristic symptoms of schizophrenia but the overall picture is not one of catatonic type, paranoid type, or disorganized type schizophrenia.|NCI|N|
C0392361|Derivation of pleasure from infliction of physical or mental pain on others and oneself, with presence of high degree of destructiveness.|PSY|N|
C0392375|A state of emotional depression which may result in a negative outlook on life.|NCI|N|
C0392386|A laboratory test result indicating that there is an abnormally small number of platelets in the circulating blood.|NCI|N|
C0392400|A diffuse malignant neoplasm that arises from mesothelial cells, usually in the pleura or peritoneum. Histologic variants include biphasic, epithelioid, sarcomatoid, and desmoplastic mesothelioma.|NCI|N|
C0392439|A rare, genetic, chronic, recurrent, slowly progressive, epidermal disease characterized by small, sterile, pustular eruptions, involving the nails and surrounding skin of the fingers and/or toes, which coalesce and burst, leaving erythematous, atrophic skin where new pustules develop. Onychodystrophy is frequently associated and anonychia and osteolysis are reported in severe cases. Local expansion (to involve the hands, forearms and/or feet) and involvement of mucosal surfaces (e.g. conjunctiva, tongue, urethra) may be observed.|ORDO|N|
C0392441|A type of linear scleroderma characterized by a linear, colorless, atrophied band across the forehead or scalp. This disorder can affect the tissues under or near the lesion including brain, bone and eyes.|NCI|N|
C0392452|Softening of the skull seen in newborns due to incomplete mineralization.|NCI|N|
C0392464|A bulge or ballooning in the wall of the ventricle of the heart. (ACC)|NCI|N|
C0392473|Formation of blood clot in the lumen of the abdominal aorta. It may lead to severe abdominal pain and ischemic necrosis of the intestine.|NCI|N|
C0392475|ESCO2 spectrum disorder is characterized by mild-to-severe prenatal growth restriction, limb malformations (which can include bilateral symmetric tetraphocomelia or hypomelia caused by mesomelic shortening), hand anomalies (including oligodactyly, thumb aplasia or hypoplasia, and syndactyly), elbow and knee flexion contractures (involving elbows, wrists, knees, ankles, and feet [talipes equinovarus]), and craniofacial abnormalities (which can include bilateral cleft lip and/or cleft palate, micrognathia, widely spaced eyes, exophthalmos, downslanted palpebral fissures, malar flattening, and underdeveloped ala nasi), ear malformation, and corneal opacities. Intellectual disability (ranging from mild to severe) is common. Early mortality is common among severely affected pregnancies and newborns; mildly affected individuals may survive to adulthood.|GeneReviews|N|
C0392482|Complete absence of the interatrial septum with common atrioventricular valve and two atrioventricular connections.|HPO|N|
C0392492|Chronic form of periapical periodontitis.|MONDO|N|
C0392514|HFE hemochromatosis is characterized by inappropriately high absorption of iron by the small intestinal mucosa. The phenotypic spectrum of HFE hemochromatosis includes: Persons with clinical HFE hemochromatosis, in whom manifestations of end-organ damage secondary to iron overload are present; Individuals with biochemical HFE hemochromatosis, in whom transferrin-iron saturation is increased and the only evidence of iron overload is increased serum ferritin concentration; and Non-expressing p.Cys282Tyr homozygotes, in whom neither clinical manifestations of HFE hemochromatosis nor iron overload are present. Clinical HFE hemochromatosis is characterized by excessive storage of iron in the liver, skin, pancreas, heart, joints, and anterior pituitary gland. In untreated individuals, early symptoms include: abdominal pain, weakness, lethargy, weight loss, arthralgias, diabetes mellitus; and increased risk of cirrhosis when the serum ferritin is higher than 1,000 ng/mL. Other findings may include progressive increase in skin pigmentation, congestive heart failure, and/or arrhythmias, arthritis, and hypogonadism. Clinical HFE hemochromatosis is more common in men than women.|GeneReviews|N|
C0392525|The presence of calculi (stones) in the kidneys.|HPO|N|
C0392531|The appendix testis or hydatid of Morgagni, is a vestigial remnant of the Müllerian duct located on the superior pole of the testicle between the testis and epididymis. Although this appendage has no vital function, it is present in 50% of males. Torsion of twisting of this vestigial remnant can be incredibly painful, but usually requires no medical intervention.|HPO|N|
C0392548|A rare neurologic disorder caused by impingement of the nerve roots of the cauda equina secondary to disc herniation, spinal stenosis, vertebral fracture, neoplasm or infection. Clinical signs may include bladder or bowel dysfunction, paresthesia and weakness of the lower extremities. The clinical course rapidly deteriorates and necessitates emergent surgical decompression to minimize risk of incontinence, sexual dysfunction and permanent paralysis.|NCI|N|
C0392557|A nuclear cataract is an opacity or clouding that develops in the lens nucleus. That is, a nuclear cataract is one that is located in the center of the lens. The nucleus tends to darken changing from clear to yellow and sometimes brown.|HPO|N|
C0392607|Severe combined immunodeficiency (SCID) due to adenosine deaminase (ADA) deficiency is a form of SCID characterized by profound lymphopenia and very low immunoglobulin levels of all isotypes resulting in severe and recurrent opportunistic infections.|ORPHANET|N|
C0392610|An acquired coagulation disorder characterized by the partial or complete absence of prothrombin (factor II) activity in the blood.|NCI|N|
C0392617|A neuroma that occurs at the site of an amputation.|NCI|N|
C0392618|Any infection documented following a surgical procedure that was not evident or suspected prior to the procedure.|NCI|N|
C0392662|A foodborne zoonotic disease, endemic to Southeast Asia and the Pacific Islands, caused by the rat lungworm <i>Angiostrongylus cantonensis</i> and that is acquired by the ingestion of the infective larvae on vegetables or in raw or undercooked snails, slugs, land crabs, freshwater shrimps, frogs and lizards. The main feature is eosinophilic meningitis, with clinical manifestations including fever, headache, malaise, fatigue, vomiting, rhinorrhea, blurred vision, diplopia, cough, stiff neck, enteritis, constipation and paraesthesia due to the movement of the worms from the intestines to the lungs, central nervous system and eyes. In severe cases without treatment, coma and death can occur.|ORDO|N|
C0392666|A demodicidosis that involves the hair follicle.|MONDO|N|
C0392674|A state in which an entity is functionally inept and incapable of exhibiting the usual array of activities.|NCI|N|
C0392676|An extreme elevation of core body temperature above normal defined as a rectal temperature of 41.1 degrees Celsius (106 degrees Fahrenheit).|HPO|N|
C0392678|Inability to move food from mouth to stomach|CCC|N|
C0392684|A pulse with repeated irregularity|SNOMEDCT_US|N|
C0392692|A decreased concentration of protein in the blood.|HPO|N|
C0392699|Painful sensations elicited by a nonpainful cutaneous stimulus such as a light touch or gentle stroking over affected areas of the body. Sometimes referred to as hyperpathia or hyperalgesia. Often perceived as an intense burning, dyesthesias may outlast the stimulus by several seconds.|HPO|N|
C0392702|dyskinesia due to extrapyramidal disorder; as a general rule, symptoms are absent during sleep, reduced with relaxation, and increased with stress.|CSP|N|
C0392703|Unsteadiness or trembling movements of the whole body or a body part.|NCI|N|
C0392704|An agnosia that is a loss of the ability to perceive any auditory information but whose hearing is intact.|MONDO|N|
C0392707|A genetic predisposition to form IgE antibodies in response to exposure to allergens and therefore, for the development of immediate (type I) hypersensitivity and atopic conditions, such as allergic rhinitis; bronchial asthma, atopic dermatitis, and food allergy. Mutations of specific alleles on the long arm of chromosome 5 have been associated with higher levels of IL-4 and IgE and are known as IL-4 promoter polymorphisms.|NCI|N|
C0392708|A kind of anemia characterized by inadequate production of erythrocytes.|HPO|N|
C0392751|Indication of status as incarcerated.CHAR(13)|HL7V3.0|N|
C0392752|Being confined or restricted to a particular location.|HPO|N|
C0392756|Made less in size or amount or degree.|NCI|N|
C0392760|This term applies to a family member who is diagnosed with the same condition as the individual who is the primary focus of investigation (the proband).|HPO|N|
C0392775|An idiopathic disorder characterized by the degeneration of the aortic media tissue and formation of cyst-like spaces. It may lead to aortic dissection.|NCI|N|
C0392777|Poikiloderma refers to a patch of skin with (1) reticulated hypopigmentation and hyperpigmentation, (2) wrinkling secondary to epidermal atrophy, and (3) telangiectasias.|HPO|N|
C0392784|A low grade fibroblastic neoplasm presenting as a nodular cutaneous mass, most often on the trunk and the proximal extremities. The tumor diffusely infiltrates the dermis and the subcutaneous tissues. It is considered a locally aggressive neoplasm, which often recurs but rarely metastasizes.|NCI|N|
C0392788|Extranodal nasal NK/T cell lymphoma (NKTCL) is a rare, malignant neoplasm mainly affecting men in the fifth decade of life, that usually arises in the nose, paranasal sinuses, orbits or upper airway, and that can present with a nasal mass, nasal bleeding, nasal obstruction, palate perforation (i.e. midline perforation of the hard palate), and mid-facial and/or upper airway destructive lesions. In advanced disease stages, which are associated with a poor prognosis, NKTCL may disseminate to other organs. A few cases of NKTCL presenting primarily in the lymph nodes have also been described.|ORDO|N|
C0392998|Malignant mixed Müllerian tumor of the ovary is a rare and very aggressive neoplasm presenting most commonly in postmenopausal women and is composed of adenocarcinomatous and sarcomatous elements and, depending on the types of these elements, can be classified as homologous or heterologous. It often has a poor prognosis.|ORDO|N|
C0393009|A formal ranking system of the strength of evidence linked to a reported result.|NCI|N|
C0393068|Non-Hodgkin lymphoma that occurs during pregnancy.|NCI|N|
C0393441|Meningitis that persists for more than 4 weeks, and lymphocytes are present in the cerebrospinal fluid (CSF).|HPO|N|
C0393485|A sarcoidosis that involves the nervous system.|MONDO|N|
C0393520|Early onset cerebellar ataxia with retained reflexes (EOCARR) or Harding ataxia is a cerebellar ataxia characterized by the progressive association of a cerebellar and pyramidal syndrome with progressive cerebellar ataxia, brisk tendon reflexes, and sometimes profound sensory loss.|ORDO|N|
C0393534|A rare, immune-mediated disorder characterized by cerebellar degeneration due to the presence of an often undetected malignancy (usually carcinoma or lymphoma) in an anatomic site other than the cerebellum. Signs and symptoms include progressive ataxia, dysarthria, and nystagmus.|NCI|N|
C0393538|Spinal muscular atrophy (SMA) is characterized by muscle weakness and atrophy resulting from progressive degeneration and irreversible loss of the anterior horn cells in the spinal cord (i.e., lower motor neurons) and the brain stem nuclei. The onset of weakness ranges from before birth to adulthood. The weakness is symmetric, proximal > distal, and progressive. Before the genetic basis of SMA was understood, it was classified into clinical subtypes based on maximum motor function achieved; however, it is now apparent that the phenotype of SMN1-associated SMA spans a continuum without clear delineation of subtypes. With supportive care only, poor weight gain with growth failure, restrictive lung disease, scoliosis, and joint contractures are common complications; however, newly available targeted treatment options are changing the natural history of this disease.|GeneReviews|N|
C0393551|Madras motor neuron disease (MMND) is characterized by weakness and atrophy of limbs, multiple lower cranial nerve palsies and sensorineural hearing loss.|ORDO|N|
C0393556|A hereditary spastic paraplegia that is part of a larger syndrome.|MONDO|N|
C0393559|Troyer syndrome is characterized by progressive spastic paraparesis, dysarthria, pseudobulbar palsy, distal amyotrophy, short stature, and subtle skeletal abnormalities. Most affected children exhibit delays in walking and speech and difficulty in managing oral secretions, followed by increased lower-limb spasticity and slow deterioration in both gait and speech. Mild cerebellar signs are common. The most severely affected individuals have choreoathetosis. Emotional lability / difficulty in controlling emotions and affective disorders, such as inappropriate euphoria and/or crying, are frequently described. Life expectancy is normal.|GeneReviews|N|
C0393565|A rare neurologic disease characterized by delayed onset of encephalopathy typically within a few weeks after acute carbon monoxide poisoning. The most common symptoms are cognitive impairment, personality changes, and movement disorder including parkinsonism, among others. Prognosis is good with a high rate of spontaneous recovery within a year.|ORPHANET|N|
C0393568|A Parkinsonism that is characterized by postural instability, a broad-based gait with the absence of tremors of vascular origin.|MONDO|N|
C0393570|A progressive neurodegenerative condition affecting the cerebral cortex and basal ganglia. The disorder is characterized by varying degrees of cognitive and motor impairment.|NCI|N|
C0393571|Multiple system atrophy (MSA) is a neurodegenerative disorder characterized by autonomic failure (cardiovascular and/or urinary), parkinsonism, cerebellar impairment and corticospinal signs with a median survival of 6-9 years.|ORDO|N|
C0393576|Chorea-acanthocytosis (ChAc) is characterized by a progressive movement disorder, cognitive and behavior changes, a myopathy that can be subclinical, and chronic hyperCKemia in serum. Although the disorder is named for acanthocytosis of the red blood cells, this feature is variable. The movement disorder is mostly limb chorea, but some individuals present with parkinsonism. Dystonia is common and affects the oral region and especially the tongue, causing dysarthria and serious dysphagia with resultant weight loss. Habitual tongue and lip biting are characteristic, as well as tongue protrusion dystonia. Progressive cognitive and behavioral changes resemble those in a frontal lobe syndrome. Seizures are observed in almost half of affected individuals and can be the initial manifestation. Myopathy results in progressive distal muscle wasting and weakness. Mean age of onset in ChAc is about 30 years, although ChAc can develop as early as the first decade or as late as the seventh decade. It runs a chronic progressive course and may lead to major disability within a few years. Life expectancy is reduced, with age of death ranging from 28 to 61 years.|GeneReviews|N|
C0393577|Neurodegeneration involving the globus pallidus,a part of the basal ganglia that is involved in the regulation of voluntary movement.|HPO|N|
C0393584|NKX2-1-related disorders range from benign hereditary chorea (BHC) to choreoathetosis, congenital hypothyroidism, and neonatal respiratory distress (also known as brain-lung-thyroid syndrome). Childhood-onset chorea, the hallmark of NKX2-1-related disorders, may or may not be associated with respiratory distress syndrome or congenital hypothyroidism. Chorea generally begins in early infancy or about age one year (most commonly) or in late childhood or adolescence, and progresses into the second decade after which it remains static or (rarely) remits. Pulmonary disease, the second most common manifestation, can include respiratory distress syndrome in neonates, interstitial lung disease in young children, and pulmonary fibrosis in older persons. The risk for pulmonary carcinoma is increased in young adults with an NKX2-1-related disorder. Thyroid dysfunction, the result of dysembryogenesis, can present as congenital hypothyroidism or compensated hypothyroidism. The risk for thyroid cancer is unknown and may not be increased. In one review, 50% of affected individuals had the full brain-lung-thyroid syndrome, 30% had involvement of brain and thyroid only, and 13% had isolated chorea only.|GeneReviews|N|
C0393588|A form of dystonia characterized by episodes of dystonia (often hemidystonia or generalized) lasting from minutes to hours. There are no dystonic symptoms between episodes.|HPO|N|
C0393591|Most characteristically, Aicardi-Goutières syndrome (AGS) manifests as an early-onset encephalopathy that usually, but not always, results in severe intellectual and physical disability. A subgroup of infants with AGS present at birth with abnormal neurologic findings, hepatosplenomegaly, elevated liver enzymes, and thrombocytopenia, a picture highly suggestive of congenital infection. Otherwise, most affected infants present at variable times after the first few weeks of life, frequently after a period of apparently normal development. Typically, they demonstrate the subacute onset of a severe encephalopathy characterized by extreme irritability, intermittent sterile pyrexias, loss of skills, and slowing of head growth. Over time, as many as 40% develop chilblain skin lesions on the fingers, toes, and ears. It is becoming apparent that atypical, sometimes milder, cases of AGS exist, and thus the true extent of the phenotype associated with pathogenic variants in the AGS-related genes is not yet known.|GeneReviews|N|
C0393593|A movement disorder characterized by sustained or intermittent muscle contractions, resulting in abnormal movements and/or postures.|NCI|N|
C0393598|An instance of idiopathic torsion dystonia that is caused by an inherited modification of the individual's genome.|MONDO|N|
C0393601|An instance of idiopathic torsion dystonia that is acquired during the lifetime of the individual.|MONDO|N|
C0393626|Opsoclonus myoclonus syndrome (OMS) is a rare neuroinflammatory disease of paraneoplastic, parainfectious or idiopathic origin, characterized by opsoclonus, myoclonus, ataxia, and behavioral and sleep disorders.|ORDO|N|
C0393639|A rare acquired neurological disease with characteristics of encephalopathy associated with elevated antithyroid antibodies, in the absence of other causes. Clinical presentation varies from minor cognitive impairment to status epilepticus and coma, and frequently includes seizures, confusion, speech disorder, memory impairment, ataxia and psychiatric manifestations.|SNOMEDCT_US|N|
C0393642|Acute neurological dysfunction during severe SEPSIS in the absence of direct brain infection characterized by systemic inflammation and BLOOD BRAIN BARRIER perturbation.|MSH|N|
C0393665|A form of multiple sclerosis characterized by a progressive deterioration in neurologic function which is in contrast to the more typical relapsing remitting form. If the clinical course is free of distinct remissions, it is referred to as primary progressive multiple sclerosis. When the progressive decline is punctuated by acute exacerbations, it is referred to as progressive relapsing multiple sclerosis. The term secondary progressive multiple sclerosis is used when relapsing remitting multiple sclerosis evolves into the chronic progressive form. (From Ann Neurol 1994;36 Suppl:S73-S79; Adams et al., Principles of Neurology, 6th ed, pp903-914)|MONDO|N|
C0393666|A multiple sclerosis that is characterized by steadily worsening symptoms and attacks during periods of remission with disease progression from the onset.|MONDO|N|
C0393676|A rare genetic neurological disorder characterised by late infancy to early-adolescence onset of prolonged, nocturnal seizures which begin with autonomic features (e.g. vomiting, pallor, sweating) and associate tonic eye deviation, impairment of consciousness and may evolve to a hemi-clonic or generalised convulsion. Autonomic status epilepticus may be the only clinical event in some cases.|SNOMEDCT_US|N|
C0393677|A rare genetic neurological disorder with characteristics of childhood to mid-adolescence onset of frequent, brief, diurnal simple partial seizures which usually begin with visual hallucinations (e.g. phosphenes) and/or ictal blindness and may associate non visual seizures (such as deviation of the eyes, oculo clonic seizures), forced eyelid closure and blinking and sensory hallucinations. Post-ictal headache is common while impairment of consciousness is rare.|SNOMEDCT_US|N|
C0393693|A rare neonatal epilepsy syndrome characterized by seizures without specific underlying etiology, occurring during the first days of life in infants with an otherwise normal neurological state and no family history of neonatal convulsions. The most commonly partial and clonic seizures usually last for one to three minutes. Repeated seizures may lead to status epilepticus lasting up to 20 hours. Overall, remission rates are high and neurological outcome is favorable.|MONDO|N|
C0393697|A type of epilepsy that presents with generalized tonic-clonic seizures usually between 10 and 25 years of age in an otherwise normal adolescent or adult. The generalized tonic-clonic seizures are typically provoked by sleep deprivation. Other seizure types do not occur. Development and cognition are typically normal. Neurological examination is normal. The electroencephalogram must show generalized epileptiform discharges or capture a generalized tonic-clonic seizure and have a normal background.|SNOMEDCT_US|N|
C0393702|A generalized myoclonic-atonic seizure is a type of generalized motor seizure characterized by a myoclonic jerk followed by an atonic motor component.|HPO|N|
C0393703|Epilepsy with myoclonic absence presents with daily myoclonic absence seizures between 1 to 12 years of age. Other generalised seizure types which may be seen in this syndrome include generalised tonic-clonic seizures, clonic, atonic and typical absence seizures. Developmental impairment may be present at onset of epilepsy and may become more evident with age. The electroencephalogram shows regular three Hz generalised spike-and-wave pattern time-locked with myoclonic jerks, with a normal background.|SNOMEDCT_US|N|
C0393706|A severe form of age-related epileptic encephalopathies characterized by the onset of tonic spasms within the first 3 months of life that can be generalized or lateralized, independent of the sleep cycle, and that can occur hundreds of times per day, leading to psychomotor impairment and death.|ORDO|N|
C0393719|Seizures that occur while the affected individual is sleeping.|HPO|N|
C0393720|A rare reflex epilepsy characterized by seizures and photoparoxysmal responses triggered by flashing or flickering lights, or patterns. Exact nature of the stimulus and seizure type are variable. The disorder mainly presents in childhood and adolescence and can either occur as an isolated condition, or be associated to other epilepsy syndromes.|ORDO|N|
C0393722|An absence with eyelid myoclonia seizure is a type of generalized non-motor (absence) seizure characterized by forced upward jerking of the eyelids during an absence seizure.|HPO|N|
C0393725|A rare reflex epilepsy characterized by in most cases complex partial seizures triggered by different components of eating, such as the sight of food, proprioceptive, olfactory or gustatory sensations, chewing, salivation, and gastric distension after food intake. The seizures may be idiopathic or associated with symptomatic localization-related epilepsies.|ORDO|N|
C0393729|Hot water epilepsy (HWE) is a form of reflex or sensory epilepsy in which seizures are precipitated by immersion in hot water or pouring of hot water over the head during bathing. The seizures are usually complex partial, but about 33% of patients experience secondary generalization. There are no additional neurologic abnormalities (Satishchandra, 2003).|OMIM|N|
C0393735|Various conditions with the symptom of headache. Headache disorders are classified into major groups, such as primary headache disorders (based on characteristics of their headache symptoms) and secondary headache disorders (based on their etiologies). (International Classification of Headache Disorders, 2nd ed. Cephalalgia 2004: suppl 1)|MONDO|N|
C0393750|Headache resulting from pressure applied to the cutaneous nerves of the head.|NCI|N|
C0393754|The Headache Classification Committee of the International Headache Society (1988) classified headache associated with sexual activity (HSA) as an idiopathic headache under 'miscellaneous headaches unassociated with structural lesions.' Based on initial descriptions, 3 subtypes are differentiated: type 1 is a dull ache in the head and neck that slowly intensifies as sexual excitement increases, and is believed to be caused by muscle contraction similar to tension-type headache; type 2, also called 'vascular-type,' is a sudden severe, explosive headache occurring at orgasm, which may be due to increased intracranial pressure; type 3, the most uncommon type, is a postural headache resembling that caused by decreased CSF pressure, perhaps due to a meningeal tear during coitus (summary by Frese et al., 2003).|OMIM|N|
C0393760|Difficulty initiating sleep, that is, increased sleep onset latency, refers to the condition where it takes 30 minutes or more to fall asleep.|HPO|N|
C0393761|Difficulty maintaining sleep.|NCI|N|
C0393770|A subtype of circadian rhythm sleep disorder in which the individual exhibits a persistent pattern of late sleep onset and late awakening, which results from an endogenous sleep-wake cycle that is delayed relative to the societal norm.|NCI|N|
C0393771|A circadian sleep disorder characterized by at least three sleep episodes per 24-hour period, irregularly from day to day.|MONDO|N|
C0393773|A subtype of circadian rhythm sleep disorder in which the individual exhibits a normal endogenous pattern of sleep and wakefulness, but this pattern comes into conflict with the desired pattern of sleep and wakefulness required by shift work.|NCI|N|
C0393777|A parasomnia characterized by paroxysmal episodes of choreoathetotic, ballistic, dystonic movements, and semipurposeful activity. The episodes occur during non-rapid eye movement sleep and typically recur several times per night.|MONDO|N|
C0393778|This syndrome is characterised by total or partial anosmia at birth. So far, 15 patients have been described. The anosmia is caused by a defect in the development of the olfactory bulbs or by replacement of the olfactory epithelium by respiratory epithelium. The mode of transmission appears to be autosomal dominant with incomplete penetrance. Isolated congenital anosmia is found in some parents of individuals with Kallman syndrome (see this term).|ORDO|N|
C0393791|Partial or complete paralysis of the facial muscles of one side of an individual''s face that is present at birth. It is caused by damage to the seventh cranial nerve.|NCI|N|
C0393799|Miller-Fisher syndrome (MFS) is a rare cranial nerve variant of Guillain-Barré syndrome (GBS; see this term).|ORDO|N|
C0393807|MFN2 hereditary motor and sensory neuropathy (MFN2-HMSN) is a classic axonal peripheral sensorimotor neuropathy, inherited in either an autosomal dominant (AD) manner (~90%) or an autosomal recessive (AR) manner (~10%). MFN2-HMSN is characterized by more severe involvement of the lower extremities than the upper extremities, distal upper-extremity involvement as the neuropathy progresses, more prominent motor deficits than sensory deficits, and normal (>42 m/s) or only slightly decreased nerve conduction velocities (NCVs). Postural tremor is common. Median onset is age 12 years in the AD form and age eight years in the AR form. The prevalence of optic atrophy is approximately 7% in the AD form and approximately 20% in the AR form.|GeneReviews|N|
C0393808|GJB1 disorders are typically characterized by peripheral motor and sensory neuropathy with or without fixed CNS abnormalities and/or acute, self-limited episodes of transient neurologic dysfunction (especially weakness and dysarthria). Peripheral neuropathy typically manifests in affected males between ages five and 25 years. Although both men and women are affected, manifestations tend to be less severe in women, some of whom may remain asymptomatic. Less commonly, initial manifestations in some affected individuals are stroke-like episodes (acute fulminant episodes of reversible CNS dysfunction).|GeneReviews|N|
C0393814|Hereditary neuropathy with liability to pressure palsies (HNPP) is characterized by recurrent acute sensory and motor neuropathy in a single or multiple nerves. The most common initial manifestation is the acute onset of a non-painful focal sensory and motor neuropathy in a single nerve (mononeuropathy). The first attack usually occurs in the second or third decade but earlier onset is possible. Neuropathic pain is increasingly recognized as a common manifestation. Recovery from acute neuropathy is usually complete; when recovery is not complete, the resulting disability is mild. Some affected individuals also demonstrate a mild-to-moderate peripheral neuropathy.|GeneReviews|N|
C0393819|A chronic monophasic, progressive or relapsing symmetric sensorimotor disorder characterized by progressive muscular weakness with impaired sensation, absent or diminished tendon reflexes and elevated cerebrospinal fluid (CSF) proteins.|ORDO|N|
C0393847|Multifocal motor neuropathy (MMN) is a rare acquired immune-mediatedneuropathy characterized clinically by a purely motor deficit with conduction block and asymmetric multifocal weakness, fasciculations, and cramping.|ORDO|N|
C0393851|Polyneuropathy arising in intensive care unit patients. It is a common complication of severe sepsis and is thought to represent a neurologic manifestation of systemic inflammatory response syndrome (SIRS).|NCI|N|
C0393890|An entrapment neuropathy of the suprascapular nerve, presenting with shoulder weakness confined to the supraspinatus muscle (this muscle initiates shoulder abduction) or to the infraspinatus (this muscle externally rotates the arm), as well as with pain in the posterior part of the shoulder and upper periscapular region.|HPO|N|
C0393899|A chronic neuropathic pain syndrome of the abdominal wall caused by entrapment of anterior cutaneous branches of 7 to 12th intercostal nerves along the lateral border of the anterior rectus abdominis fascia.|SNOMEDCT_US|N|
C0393911|Pure autonomic failure (PAF) is a neurodegenerative disease that affects the sympathetic branch of the autonomous nervous system and that manifests with orthostatic hypotension.|ORDO|N|
C0393929|Congenital myasthenic syndromes (CMS) are a group of inherited disorders affecting the neuromuscular junction (NMJ). Patients present clinically with onset of variable muscle weakness between infancy and adulthood. These disorders have been classified according to the location of the defect: presynaptic, synaptic, and postsynaptic. CMS6 is an autosomal recessive CMS resulting from a presynaptic defect; patients have onset of symptoms in infancy or early childhood and tend to have sudden apneic episodes. Treatment with acetylcholinesterase inhibitors may be beneficial (summary by Engel et al., 2015).
For a discussion of genetic heterogeneity of CMS, see CMS1A (601462).|OMIM|N|
C0393995|A form of spastic cerebral palsy affecting all four limbs; the term bilateral hemiplegia may also be used when one side has a significantly different tone compared with the other.|SNOMEDCT_US|N|
C0394005|A subtype of non-spastic cerebral palsy with loss of muscular coordination with abnormal force and rhythm, and impairment of accuracy; commonly presents with gait and trunk ataxia, poor balance, past pointing, terminal intention tremor, scanning speech, nystagmus and other abnormal eye movements, and hypotonia. Low tone is a prominent feature.|SNOMEDCT_US|N|
C0394006|CAMRQ1 is an autosomal recessive disorder characterized by congenital nonprogressive cerebellar ataxia, disturbed equilibrium, and impaired intellectual development, associated with cerebellar hypoplasia (Schurig et al., 1981; Glass et al., 2005).
Genetic Heterogeneity of CAMRQ
CAMRQ is a genetically heterogeneous disorder. See also CAMRQ2 (610185), caused by mutation in the WDR81 gene (614218) on chromosome 17p; CAMRQ3 (613227), caused by mutation in the CA8 gene (114815) on chromosome 8q11; and CAMRQ4 (615268), caused by mutation in the ATP8A2 gene (605870) on chromosome 13q12.|OMIM|N|
C0394007|A form of non-spastic cerebral palsy with decreased muscle tone, noticeably floppy muscles with poor or no head control.|SNOMEDCT_US|N|
C0394016|Prolonged unconsciousness from which the individual cannot be aroused, associated with traumatic injuries to the BRAIN. This may be defined as unconsciousness persisting for 6 hours or longer. Coma results from injury to both cerebral hemispheres or the RETICULAR FORMATION of the BRAIN STEM. Contributing mechanisms include DIFFUSE AXONAL INJURY and BRAIN EDEMA. (From J Neurotrauma 1997 Oct;14(10):699-713)|MSH|N|
C0394996|A dosing measurement based on the drink unit.|NCI|N|
C0395005|A form of primary polydipsia caused by underlying psychiatric symptoms, including those caused by psychoses and rarely by affective disorders.|MONDO|N|
C0395797|Pathological processes of the ear, the nose, and the throat, also known as the ENT diseases.|MONDO|N|
C0395818|An malignant otitis externa caused by infection with Pseudomonas aeruginosa.|MONDO|N|
C0395837|An abnormal narrowing of the external auditory canal.|HPO|N|
C0395849|Chronic form of tympanitis.|MONDO|N|
C0395854|The tympanic membrane (eardrum, myringa) is a thin, semitransparent, oval membrane, approximately 1 cm in diameter, that separates the external acoustic meatus from the tympanic cavity. Thickening refers to an increase of the dimension across the membrane.|HPO|N|
C0395863|A acute transudative otitis media involving thick, viscid and mucuslike fluid effusion due to which the drum appears blue in color.|MONDO|N|
C0395865|A acute transudative otitis media which involves bloody effusion.|MONDO|N|
C0395869|Chronic form of non-suppurative otitis media.|MONDO|N|
C0395887|A stiffening of the tympanic membrane due to calcification, typically presents as white plaque-like lesions, involving discrete regions of the tympanic membrane and/or middle ear.|HPO|N|
C0395896|Ossicular chain dislocation is a separation of the middle ear bones. It results in a hearing loss due to sound not being transmitted properly (conductive hearing loss). Ossicular chain dislocation is also called ossicular chain discontinuity.|MONDO|N|
C0395905|Benign congenital lesion of the postauricular soft tissue consisting of a blind-ending narrow tube or pit.|HPO|N|
C0395947|A syndrome characterized by rapidly progressive sensorineural hearing loss (SNHL), that is often bilateral, and is potentially reversible.|MONDO|N|
C0395976|Over 400 syndromes have been identified with atypical hearing thresholds. For more information, visit the Hereditary Hearing Loss website (Van Camp & Smith, 2016)|LNC|N|
C0396006|Narrowing of the pharyngeal airway.|NCI|N|
C0396009|An abnormal communication between the skin and the pharynx.|NCI|N|
C0396051|A rare larynx anomaly characterized by a partial or complete narrowing of the upper airway extending from just below the vocal folds to the lower border of the cricoid cartilage. Clinical presentation is variable and includes recurrent, croup-like, upper respiratory infections, stridor, dyspnea, barking cough, and in most severe cases acute airway compromise at delivery. It may be an isolated finding, or associated with other congenital anomalies and syndromes.|ORDO|N|
C0396053|A non-neoplastic growth in the vocal cord. It is characterized by tissue swelling in both vocal cords in a symmetrical manner. It is caused by vocal abuse behavior. Hoarseness is the presenting symptom.|NCI|N|
C0396058|Congenital laryngeal palsy is a rare larynx anomaly characterized by unilateral or bilateral paralysis of the vocal cords as a result of dysfunction of the motor nerve supply to the larynx. Patients typically present at birth (or shortly thereafter) with stridor, weak or breathy cry, dysphonia or aphonia, feeding or aspiration difficulties and, occasionally, respiratory compromise. Neurological disease, masses that cause compression and aberrant vessels are often associated. Most cases resolve spontaneously over 6-12 months.|ORDO|N|
C0396059|Laryngeal abductor paralysis is an autosomal dominant condition characterized by variable penetrance and expressivity ranging from mild symptoms to neonatal asphyxia. (summary by Morelli et al., 1982; Manaligod and Smith, 1998).|OMIM|N|
C0396064|Bowing (abnormal curvature) of the vocal folds.|HPO|N|
C0396072|A wart-like lesion (papilloma, i.e., benign epithelial tumors that are caused by infection with the human papilloma virus) located on the larynx.|HPO|N|
C0398353|Respiratory failure due to a high level of carbon dioxide in the blood.|SNOMEDCT_US|N|
C0398357|Ductus arteriosus aneurysm (DAA) is a saccular dilatation of the ductus arteriosus. DAA can be either congenital or acquired (e.g. as a complication of surgical closure of a patent ductus arteriosus). Although the majority of patients with congenital DAA are asymptomatic and have a benign course, severe complications, such as rupture or thromboembolism, can occur. DAA is likely to emerge in the third trimester from the aortic junction of the DA, extending towards its pulmonary end.|HPO|N|
C0398367|Kikuchi-Fujimoto disease (KFD) is a benign and self-limited disorder, characterized by regional cervical lymphadenopathy with tenderness, usually accompanied with mild fever and night sweats. Less frequent symptoms include weight loss, nausea, vomiting, sore throat.|ORDO|N|
C0398368|Primary lymphedema is caused by anatomic or functional defects in the lymphatic system, resulting in chronic swelling of body parts and lymphatic-system malformation.|MONDO|N|
C0398370|Excess deposit and expansion of adipose tissue in an unusual pattern which cannot be lost through diet and exercise .|HPO|N|
C0398372|The loss of lymph into the surrounding tissue or body cavity.|NCI|N|
C0398554|A rare, neonatal syndrome characterized by early jaundice that becomes rapidly associated with severe hemolytic anemia. The peripheral blood smear is remarkable for small irregular, contracted red blood cells with hyper-dense spikes (pyknocytes), that progressively increase in number and then spontaneously disappear.|NCI|N|
C0398561|A rare, autosomal recessive, inherited disorder caused by mutation of the GPI gene. It is characterized by chronic, non-spherocytic hemolytic anemia.|NCI|N|
C0398562|Triosephosphate isomerase (TPI) deficiency is a severe autosomal recessive inherited multisystem disorder of glycolytic metabolism characterized by hemolytic anemia and neurodegeneration.|ORPHANET|N|
C0398563|A rare, autosomal recessive, inherited disorder caused by mutation of the HK1 gene. It is characterized by the early-onset of severe, non-spherocytic hemolytic anemia.|NCI|N|
C0398568|McLeod neuroacanthocytosis syndrome (designated as MLS throughout this review) is a multisystem disorder with central nervous system (CNS), neuromuscular, cardiovascular, and hematologic manifestations in males: CNS manifestations are a neurodegenerative basal ganglia disease including movement disorders, cognitive alterations, and psychiatric symptoms. Neuromuscular manifestations include a (mostly subclinical) sensorimotor axonopathy and muscle weakness or atrophy of different degrees. Cardiac manifestations include dilated cardiomyopathy, atrial fibrillation, and tachyarrhythmia. Hematologically, MLS is defined as a specific blood group phenotype (named after the first proband, Hugh McLeod) that results from absent expression of the Kx erythrocyte antigen and weakened expression of Kell blood group antigens. The hematologic manifestations are red blood cell acanthocytosis and compensated hemolysis. Alloantibodies in the Kell and Kx blood group system can cause strong reactions to transfusions of incompatible blood and severe anemia in affected male newborns of Kell-negative mothers. Females heterozygous for XK pathogenic variants have mosaicism for the Kell and Kx blood group antigens. Although they usually lack CNS and neuromuscular manifestations, some heterozygous females may develop clinical manifestations including chorea or late-onset cognitive decline.|GeneReviews|N|
C0398593|Specific granule deficiency-1 (SGD1) is an immunologic disorder characterized by onset of recurrent bacterial infections in infancy or early childhood. Both autosomal recessive and autosomal dominant inheritance have been reported. Affected individuals usually develop skin infections due to Staphylococcus aureus which may progress to more invasive infections. Otitis media and other upper respiratory infections are frequently observed. Neutrophils from patients with the disorder display atypical hyposegmented or bilobed nuclei and show decreased or absent expression of secondary and tertiary granule proteins due to a defect in myeloid maturation. Neutrophils may also demonstrate defects in chemotaxis or bactericidal activity; some patients show neutropenia and lack of eosinophils. Treatment consists mainly of prophylactic antibiotics, although at least 1 patient has been cured with hematopoietic stem cell transplantation (summary by Gombart et al., 2001 and Leszcynska et al., 2020).
Genetic Heterogeneity of Specific Granule Deficiency
See also SGD2 (617475), caused by mutation in the SMARCD2 gene (601736) on chromosome 17q23.|OMIM|N|
C0398595|A rare primary immunodeficiency due to a defect in innate immunity characterized by a marked decrease or absence of myeloperoxidase activity in neutrophils and monocytes. Clinically, most patients are asymptomatic. Occasionally, severe infectious complications may occur, particularly recurrent candida infections, being especially severe in the setting of comorbid diabetes mellitus.|ORDO|N|
C0398609|An acquired coagulation disorder characterized by the partial or complete absence of factor IX activity in the blood.|NCI|N|
C0398621|A rare multi-system disease characterized by markedly impaired extracellular fibrinolysis leading to the formation of ligneous (fibrin-rich) pseudomembranes on mucosae.|ORDO|N|
C0398623|An abnormality of coagulation associated with an increased risk of thrombosis.|HPO|N|
C0398625|An abnormality of coagulation related to a decreased concentration of vitamin K-dependent protein C. Protein C is activated to protein Ca by thrombin bound to thrombomodulin. Activated protein C degrades factors VIIIa and Va.|HPO|N|
C0398626|Heparin cofactor II (HCF2; 142360) rapidly inhibits thrombin in plasma in the presence of dermatan sulfate or heparin. Congenital HCF2 deficiency is associated with thromboembolism and is classified into type I (quantitative) or type II (qualitative) deficiency (Kondo et al., 1996).|OMIM|N|
C0398635|Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the TBXAS1 gene.|MONDO|N|
C0398639|Thrombocytopenia related to lack of or severe reduction in the count of megakaryocytes.|HPO|N|
C0398641|An autosomal dominant disorder characterized by thrombocytopenia, giant platelets, nephritis, and deafness; it is associated with mutation of the MYH9 gene.|NCI|N|
C0398650|Immune thrombocytopenic purpura is characterized by a low platelet count, normal bone marrow, and the absence of other causes of thrombocytopenia. It is principally a disorder of increased platelet destruction mediated by autoantibodies to platelet-membrane antigens (George et al., 1994).|OMIM|N|
C0398661|Chronic form of congestive splenomegaly.|MONDO|N|
C0398676|Sarcoidosis of the cerebrum.|NCI|N|
C0398686|Immunodeficiency disease that arises independent of another pathologic process, disease, or injury.|NCI|N|
C0398689|X-linked hyper IgM syndrome (HIGM1), a disorder of abnormal T- and B-cell function, is characterized by low serum concentrations of IgG, IgA, and IgE with normal or elevated serum concentrations of IgM. Mitogen proliferation may be normal, but NK- and T-cell cytotoxicity can be impaired. Antigen-specific responses are usually decreased or absent. Total numbers of B cells are normal but there is a marked reduction of class-switched memory B cells. Defective oxidative burst of both neutrophils and macrophages has been reported. The range of clinical findings varies, even within the same family. More than 50% of males with HIGM1 develop symptoms by age one year, and more than 90% are symptomatic by age four years. HIGM1 usually presents in infancy with recurrent upper- and lower-respiratory tract bacterial infections, opportunistic infections including Pneumocystis jirovecii pneumonia, and recurrent or protracted diarrhea that can be infectious or noninfectious and is associated with failure to thrive. Neutropenia is common; thrombocytopenia and anemia are less commonly seen. Autoimmune and/or inflammatory disorders (such as sclerosing cholangitis) as well as increased risk for neoplasms have been reported as medical complications of this disorder. Significant neurologic complications, often the result of a CNS infection, are seen in 5%-15% of affected males. Liver disease, a serious complication of HIGM1 once observed in more than 80% of affected males by age 20 years, may be decreasing with adequate screening and treatment of Cryptosporidium infection.|GeneReviews|N|
C0398691|Mevalonate kinase deficiency is a condition characterized by recurrent episodes of fever, which typically begin during infancy. Each episode of fever lasts about 3 to 6 days, and the frequency of the episodes varies among affected individuals. In childhood the fevers seem to be more frequent, occurring as often as 25 times a year, but as the individual gets older the episodes occur less often.\n\nMevalonate kinase deficiency has additional signs and symptoms, and the severity depends on the type of the condition. There are two types of mevalonate kinase deficiency: a less severe type called hyperimmunoglobulinemia D syndrome (HIDS) and a more severe type called mevalonic aciduria (MVA).\n\nDuring episodes of fever, people with HIDS typically have enlargement of the lymph nodes (lymphadenopathy), abdominal pain, joint pain, diarrhea, skin rashes, and headache. Occasionally they will have painful sores called aphthous ulcers around their mouth. In females, these may also occur around the vagina. Rarely, people with HIDS develop a buildup of protein deposits (amyloidosis) in the kidneys that can lead to kidney failure. Fever episodes in individuals with HIDS can be triggered by vaccinations, surgery, injury, or stress. Most people with HIDS have abnormally high levels of immune system proteins called immunoglobulin D (IgD) and immunoglobulin A (IgA) in the blood. It is unclear why some people with HIDS have high levels of IgD and IgA and some do not. Elevated levels of these immunoglobulins do not appear to cause any signs or symptoms. Individuals with HIDS do not have any signs and symptoms of the condition between fever episodes and typically have a normal life expectancy.\n\nPeople with MVA have signs and symptoms of the condition at all times, not just during episodes of fever. Affected children have developmental delay, problems with movement and balance (ataxia), recurrent seizures (epilepsy), progressive problems with vision, and failure to gain weight and grow at the expected rate (failure to thrive). Individuals with MVA typically have an unusually small, elongated head. In childhood or adolescence, affected individuals may develop eye problems such as inflammation of the eye (uveitis), a blue tint in the white part of the eye (blue sclera), an eye disorder called retinitis pigmentosa that causes vision loss, or clouding of the lens of the eye (cataracts). Affected adults may have short stature and may develop muscle weakness (myopathy) later in life. During fever episodes, people with MVA may have an enlarged liver and spleen (hepatosplenomegaly), lymphadenopathy, abdominal pain, diarrhea, and skin rashes. Children with MVA who are severely affected with multiple problems may  live only into early childhood; mildly affected individuals may have a normal life expectancy.|MedlinePlus Genetics|N|
C0398692|A disorder that affects the production of complete immunoglobulins. Deletions in the heavy chain genes on chromosome 14 disrupt the synthesis and secretion of properly functioning antibodies resulting in monoclonal populations of truncated heavy chains without covalently bonded light chains. Such deletions have been implicated as playing a significant role in several diseases including leukemias, lymphomas and myelomas.|NCI|N|
C0398694|A rare dysgammaglobulinemia characterized by low or undetectable serum levels of immunoglobulin class E (IgE). It is an uncommon primary antibody deficiency. It is most likely an inherited immunodeficiency. It may be caused by decreased or inefficient class-switching from progenitor B cells without any corresponding decreases in the other isotypes. Most affected persons appear asymptomatic but may show a predisposition to autoimmune and respiratory diseases.|NCI|N|
C0398695|A rare dysgammaglobulinemia characterized by low or undetectable serum levels of immunoglobulin class D (IgD). It is an uncommon primary antibody deficiency. It is most likely an inherited immunodeficiency. It may be caused by decreased or inefficient production of IgD from progenitor B cells without any corresponding decreases in the other isotypes. Most affected persons are asymptomatic and do not appear to be at increased risk for infection.|NCI|N|
C0398709|Deficiency of secretory IgA (polymers of 2-4 IgA monomers are linked by two additional chains) and is the primary antibody response at the mucosal level, where it forms immune complexes with pathogens and allergens.|HPO|N|
C0398712|Immunodeficiency due to selective anti-polysaccharide antibody deficiency is characterized by normal immunoglobulin levels (including IgG sub-classes) but impaired polysaccharide responsiveness (IPR).|ORPHANET|N|
C0398738|Leukocyte adhesion deficiency (LAD) is an autosomal recessive disorder of neutrophil function resulting from a deficiency of the beta-2 integrin subunit of the leukocyte cell adhesion molecule. The leukocyte cell adhesion molecule is present on the surface of peripheral blood mononuclear leukocytes and granulocytes and mediates cell-cell and cell-extracellular matrix adhesion. LAD is characterized by recurrent bacterial infections; impaired pus formation and wound healing; abnormalities of a wide variety of adhesion-dependent functions of granulocytes, monocytes, and lymphocytes; and a lack of beta-2/alpha-L, beta-2/alpha-M, and beta-2/alpha-X expression.
Genetic Heterogeneity of Leukocyte Adhesion Deficiency
Also see LAD2 (266265), caused by mutation in the SLC35C1 gene (605881), and LAD3 (612840), caused by mutation in the FERMT3 gene (607901).|OMIM|N|
C0398739|Congenital disorder of glycosylation type IIc (CDG2C) is an autosomal recessive disorder characterized by moderate to severe psychomotor retardation, mild dysmorphism, and impaired neutrophil motility. It is a member of a group of disorders with a defect in the processing of protein-bound glycans. For a general overview of congenital disorders of glycosylation (CDGs), see CDG1A (212065) and CDG2A (212066).
Frydman (1996) contended that the neutrophil defect in CDG2C, which has been referred to as 'leukocyte adhesion deficiency type II' (LAD2), is a manifestation of the disorder and that there are no cases of 'primary' LAD II.
Etzioni and Harlan (1999) provided a comprehensive review of both leukocyte adhesion deficiency-1 (LAD1; 116920) and LAD2. While the functional neutrophil studies are similar in the 2 LADs, the clinical course is milder in LAD2. Furthermore, patients with LAD2 present other abnormal features, such as growth and mental retardation, which are related to the primary defect in fucose metabolism. Delayed separation of the umbilical cord occurs in LAD1. For a discussion of genetic heterogeneity of LAD, see 116920.|OMIM|N|
C0398746|Glutathione synthetase deficiency, or 5-oxoprolinuria, is an autosomal recessive disorder characterized, in its severe form, by massive urinary excretion of 5-oxoproline, metabolic acidosis, hemolytic anemia, and central nervous system damage. The metabolic defect results in decreased levels of cellular glutathione, which overstimulates the synthesis of gamma-glutamylcysteine and its subsequent conversion to 5-oxoproline (Larsson and Anderson, 2001).|OMIM|N|
C0398747|Several documented cases of glutathione peroxidase (GPX1; 138320) deficiency in association with hemolytic anemia have been reported. However, Paglia (1989) stated: 'To date, no defects in glutathione peroxidase have been unequivocally incriminated in the pathogenesis of hemolytic syndromes, although several instances of partial deficiency have been reported in patients with anemias of unknown etiology. This association may be coincidental, since there is a broad range of ethnic variation in the erythrocyte enzyme' (Beutler and Matsumoto, 1975).|OMIM|N|
C0398750|Immunodeficiency due to a classical component pathway complement deficiency is a primary immunodeficiency due to a deficiency in either complement components C1q, C1r, C1s, C2 or C4 characterized by increased susceptibility to bacterial infections, particularly with encapsulated bacteria, and increased risk for autoimmune disease. Most commonly, these include systemic lupus erythematosus (SLE), SLE-like disease, Henoch-Schonlein purpura, polymyositis and arthralgia. Disease severity is variable and dependent on the complement affected.|ORDO|N|
C0398762|Properdin deficiency is a rare, hereditary, primary immunodeficiency due to a complement cascade protein anomaly characterized by significantly increased susceptibility to Neisseria species infections. It only affects males, typically presenting with severe or fulminant meningococcal disease.|ORPHANET|N|
C0398764|Complement factor D deficiency is an autosomal recessive immunologic disorder characterized by increased susceptibility to bacterial infections, particularly Neisseria infections, due to a defect in the alternative complement pathway (summary by Biesma et al., 2001).|OMIM|N|
C0398765|Immunodeficiency due to a late component of complement deficiency is a primary immunodeficiency due to an anomaly in either complement components C5, C6, C7, C8 or C9 and is typically characterized by meningitis due to often recurrent meningococcal infections. The prognosis is generally favorable.|ORDO|N|
C0398776|The different types of hereditary angioedema have similar signs and symptoms. \n\n\n\nHereditary angioedema due to C1-INH deficiency is further divided into two types: type I occurs when  C1-INH  levels are low, and type II occurs when the C1-INH protein is not functioning correctly. \n\nHereditary angioedema is broadly divided into two types, which are distinguished by  levels of a protein called C1 inhibitor (C1-INH) in the blood. These types are known as hereditary angioedema due to C1-INH deficiency and hereditary angioedema with normal C1-INH. \n\nSymptoms of hereditary angioedema typically begin in childhood and worsen during puberty.  On average, untreated individuals have swelling episodes every 1 to 2 weeks, and most episodes last for about 3 to 4 days. The frequency and duration of attacks vary greatly among people with hereditary angioedema, even among people in the same family.\n\nHereditary angioedema is a disorder characterized by recurrent episodes of severe swelling (angioedema). The parts of the body that are most often affected by swelling are the limbs, face, intestinal tract, and airway. Minor trauma or stress may trigger an attack, but swelling often occurs without a known trigger. Episodes involving the intestinal tract cause severe abdominal pain, nausea, and vomiting. Swelling in the airway can restrict breathing and lead to life-threatening obstruction of the airway. About one-third of people with this condition develop a non-itchy rash called erythema marginatum during an attack.|MedlinePlus Genetics|N|
C0398777|C3 glomerulopathy (C3G) is a complex ultra-rare complement-mediated renal disease caused by uncontrolled activation of the complement alternative pathway (AP) in the fluid phase (as opposed to cell surface) that is rarely inherited in a simple mendelian fashion. C3G affects individuals of all ages, with a median age at diagnosis of 23 years. Individuals with C3G typically present with hematuria, proteinuria, hematuria and proteinuria, acute nephritic syndrome or nephrotic syndrome, and low levels of the complement component C3. Spontaneous remission of C3G is uncommon, and about half of affected individuals develop end-stage renal disease (ESRD) within ten years of diagnosis, occasionally developing the late comorbidity of impaired visual acuity.|GeneReviews|N|
C0398782|An autosomal recessive condition caused by mutation(s) in the CPN1 gene, encoding carboxypeptidase N catalytic chain. It may be characterized by episodic angioedema, chronic urticaria, asthma and/or allergic hypersensitivity.|NCI|N|
C0398783|A disorder with basis in disruption of a complement receptor.|MONDO|N|
C0398788|The Immunodeficiency, Centromeric region instability, Facial anomalies syndrome (ICF) is a rare autosomal recessive disease characterized by immunodeficiency, although B cells are present, and by characteristic rearrangements in the vicinity of the centromeres (the juxtacentromeric heterochromatin) of chromosomes 1 and 16 and sometimes 9.|ORDO|N|
C0398791|Nijmegen breakage syndrome (NBS) is characterized by progressive microcephaly, early growth deficiency that improves with age, recurrent respiratory infections, an increased risk for malignancy (primarily lymphoma), and premature ovarian failure in females. Developmental milestones are attained at the usual time during the first year; however, borderline delays in development and hyperactivity may be observed in early childhood. Intellectual abilities tend to decline over time. Recurrent pneumonia and bronchitis may result in respiratory failure and early death. Other reported malignancies include solid tumors (e.g., medulloblastoma, glioma, rhabdomyosarcoma).|GeneReviews|N|
C0398794|Griscelli syndrome (GS) is a rare cutaneous disease characterized by a silvery-gray sheen of the hair and hypopigmentation of the skin, which can be associated to primary neurological impairment (type 1), immunologic impairment (type 2) or be isolated (type 3).|ORDO|N|
C0399352|The absence of all teeth from the normal series by a failure to develop.|HPO|N|
C0399356|Additional cusps of a dental crown.|HPO|N|
C0399357|Talon cusp is an accessory cusp located near the cingulum (the portion of the lingual or palatal aspect of the tooth that forms a convex protuberance at the cervical third of the anatomic crown).|HPO|N|
C0399368|Amelogenesis imperfecta type IB is an autosomal dominant disorder of tooth enamel biomineralization resulting in enamel hypoplasia (summary by Brookes et al., 2017).|OMIM|N|
C0399376|Hypocalcified amelogenesis imperfecta is characterized by enamel of normal thickness on newly erupted and unerupted and unresolved teeth. The enamel is soft and may be lost soon after eruption leaving the crown composed only of dentin. The enamel has a cheesy consistency and can be scraped from the dentin. An anterior open bite has been recorded in over 60% of the cases observed. The hypocalcification type is the most frequent type of enamel dysplasia, occurring in about 1 in 20,000 individuals (Witkop and Sauk, 1976). Large masses of supragingival calculus become deposited on the teeth, and this is frequently associated with severe gingivitis or periodontitis (Winter and Brook, 1975).|OMIM|N|
C0399378|Dentinogenesis imperfecta is a disorder of tooth development. This condition causes the teeth to be discolored (most often a blue-gray or yellow-brown color) and translucent. Teeth are also weaker than normal, making them prone to rapid wear, breakage, and loss. These problems can affect both primary (baby) teeth and permanent teeth.\n\nResearchers have described three types of dentinogenesis imperfecta with similar dental abnormalities. Type I occurs in people who have osteogenesis imperfecta, a genetic condition in which bones are brittle and easily broken. Dentinogenesis imperfecta type II and type III usually occur in people without other inherited disorders. A few older individuals with type II have had progressive high-frequency hearing loss in addition to dental abnormalities, but it is not known whether this hearing loss is related to dentinogenesis imperfecta.\n\nSome researchers believe that dentinogenesis imperfecta type II and type III, along with a condition called dentin dysplasia type II, are actually forms of a single disorder. The signs and symptoms of dentin dysplasia type II are very similar to those of dentinogenesis imperfecta.  However, dentin dysplasia type II affects the primary teeth much more than the permanent teeth.|MedlinePlus Genetics|N|
C0399379|In dentin dysplasia type I, both primary and secondary dentitions are affected. The color and general morphology of the teeth are usually normal, although they may be slightly opalescent and blue or brown. Teeth may be very mobile and exfoliate spontaneously because of inadequate root formation. On radiographs, the roots are short and may be more pointed than normal. Pulp chambers are usually absent except for a chevron-shaped remnant in the crown (Witkop, 1975). Root canals are usually absent. Periapical radiolucencies may be present at the apices of affected teeth, for reasons unknown. On light microscopic examination of the permanent teeth, the coronal dentin is normal, but further apically becomes irregular, fills the pulp chamber, and has a 'sand-dune' morphology. Scanning electron microscopic studies of the deciduous and permanent teeth have been reported (Sauk et al., 1972; Melnick et al., 1980).
Subclassification of Dentin Dysplasia Type I
O Carroll et al. (1991) and O Carroll and Duncan (1994) reviewed dentin dysplasia and proposed 4 subtypes of dentin dysplasia type I, which they designated as DD1a-d. In DD1a, there is complete obliteration of pulp chambers and no root development, with many periapical radiolucent areas. In DD1b, there are horizontal crescent-shaped radiolucent pulpal remnants and a few millimeters of root development, with many periapical radiolucent areas. DD1c shows 2 horizontal crescent-shaped radiolucent lines and significant but incomplete root development, with or without periapical radiolucent areas. DD1d is characterized by visible pulp chambers and oval pulp stones in the coronal third of the root canal with bulging of the root around the stones and few if any periapical radiolucent areas. The authors noted that the distinctions between the subtypes of DD1 were primarily useful clinically in terms of treatment options.|OMIM|N|
C0399380|Dentin dysplasia type II (DD-II) is a rare mild form of dentin dysplasia (DD, see this term) characterized by normal tooth roots but abnormal primary dentition.|ORPHANET|N|
C0399385|Loss of the primary (also known as deciduous) teeth before the usual age.|HPO|N|
C0399408|Development of hard tissue in the inner substance of the tooth where blood vessels, lymphatic, and nerve tissue is normally found.|NCI|N|
C0399439|Overgrowth of the gingival tissue caused by phenytoin, cyclosporine A, and calcium channel blockers.|NCI|N|
C0399440|Gingival fibromatosis is a rare overgrowth condition characterized by a benign, slowly progressive, nonhemorrhagic, fibrous enlargement of maxillary and mandibular keratinized gingiva (summary by Hart et al., 2002).
Genetic Heterogeneity of Hereditary Gingival Fibromatosis
Other loci for gingival fibromatosis have been mapped to chromosome 5q (GINGF2; 605544), chromosome 2p23.3-p22.3 (GINGF3; 609955), and chromosome 11p15 (GINGF4; 611010). GINGF5 (617626) is caused by mutation in the REST gene (600571) on chromosome 4q12. There is some evidence for a locus on chromosome 2p16-p13 (see MAPPING).|OMIM|N|
C0399441|A non-neoplastic nodular lesion that arises from the gingiva. It is composed of epithelial cells lining connective tissue stroma.|NCI|N|
C0399461|Loss of the superficial layer of the oral mucosa usually resulting in a shallow or crusted lesion.|HPO|N|
C0399470|A clinical term that indicates the presence of a white patch on the buccal mucosa in the mouth which cannot be characterized as any other disease. It may be a precancerous condition and in most cases histologic examination reveals keratosis.|NCI|N|
C0399473|Non-homogenous leukoplakia on the oral mucosa. It is associated with a high risk for malignant transformation.|NCI|N|
C0399478|A premalignant pathologic process that affects the oral mucosa. It is associated with the use of smoked tobacco. It appears as white lesions on the oral mucosa. Morphologically it is characterized by the pathologic production of keratin in the mucosal epithelial surface with or without epithelial atypia. It may reverse with the cessation of tobacco use.|NCI|N|
C0399483|Increased pigmentation, either focal or generalized, of the mucosa of the mouth.|HPO|N|
C0399496|A condition characterized by persistent or recurrent labial enlargement, ORAL ULCER, and other orofacial manifestations in the absence of identifiable CROHN DISEASE; or SARCOIDOSIS. Among experts there is disagreement on whether orofacial granulomatosis is a distinct clinical disorder or an initial presentation of Crohn disease.|MSH|N|
C0399497|Crohn's disease affecting the mouth.|MONDO|N|
C0399518|Lack of symmetry between the left and right mandible.|HPO|N|
C0399519|Asymmetry between the left and right sides of the maxilla.|HPO|N|
C0399523|Malocclusion in which the mandible and maxilla are anteroposteriorly normal as reflected by the relationship of the first permanent molar (i.e., in neutroclusion), but in which individual teeth are abnormally related to each other.|MSH|N|
C0399524|Increased distance between the maxillary anterior teeth and the mandibular anterior teeth in the anterior-posterior axis.|SNOMEDCT_US|N|
C0399526|Abnormal prominence of the chin related to increased length of the mandible.|HPO|N|
C0399558|A developmental odontogenic cyst with epithelial features that simulate salivary gland or glandular differentiation. (WHO 2017)|NCI|N|
C0399602|A clinical term that indicates the presence of a white patch on the surface of the lip which cannot be characterized as any other disease. It may be a precancerous condition and in most cases histologic examination reveals keratosis.|NCI|N|
C0399605|A depression located at an oral commissure.|HPO|N|
C0400821|Inflammation of the colon that is only apparent by microscopic examination.|NCI|N|
C0400822|Microscopic colitis characterized by the accumulation of lymphocytes in the colonic epithelium and lamina propria. Patients present with chronic watery diarrhea. Colonoscopy reveals normal colonic mucosa. The diagnosis is made with the microscopic examination of the colonic biopsy samples.|NCI|N|
C0400827|Radiation proctitis is a rare rectal disease directly induced by pelvic radiotherapy and characterized by rectal bleeding, change in bowel habits, tenesmus and sepsis.|ORDO|N|
C0400839|A circumscribed inflammatory and necrotic erosive lesion in the mucosa surface of the rectum.|NCI|N|
C0400847|Narrowing of the lumen of ileum.|NCI|N|
C0400865|A disease that has its basis in the disruption of intestinal motility.|MONDO|N|
C0400883|A non-neoplastic or neoplastic vascular disorder that affects the intestines.|NCI|N|
C0400913|Acute hepatitis D infection in carrier person with chronic hepatitis B virus infection.|SNOMEDCT_US|N|
C0400914|A new infection by the hepatitis C virus, which can be detected in blood. Signs and symptoms may include right upper quadrant abdominal pain, jaundice, dark urine, white stools and nausea. Approximately 15%-25% individuals clear the virus from their bodies without treatment. 75%-85% individuals develop chronic hepatitis C. There are possible treatments depending on individual characteristics.|NCI|N|
C0400923|A non-neoplastic or neoplastic vascular disorder that affects the liver. Representative examples include veno-occlusive disease, hemangioma, lymphangioma, and angiosarcoma.|NCI|N|
C0400940|Portal cirrhosis resulting from accumulation of iron in the liver.|SNOMEDCT_US|N|
C0400966|Nonalcoholic fatty liver disease (NAFLD) is the presence of hepatic steatosis with or without inflammation and fibrosis that is not caused by alcohol. NAFLD is subdivided into nonalcoholic fatty liver (NAFL) and nonalcoholic steatohepatitis (NASH).|SNOMEDCT_US|N|
C0400973|A group of sterol metabolism disorders due to enzyme deficiencies of bile acid synthesis (BAS) in infants, children and adults, with variable manifestations that include cholestasis, neurological disease, and fat malabsorption. Nine inborn errors have been described, 7 of which lead to liver cholestasis.|ORDO|N|
C0400978|A rare, biliary tract disease characterized by development of sclerosing cholangitis due to a known primary insult to the biliary tree, including infections, autoimmune disease, exposure to toxic agents, obstructive and ischemic injuries. Patients may be initially asymptomatic with only elevated alkaline phosphatase and gamma glutamyltransferase levels. Later presentation includes abdominal pain, jaundice, pruritus, fever and bacterial cholangitis from ascending infection.|ORDO|N|
C0400979|Obstruction affecting the biliary tree.|HPO|N|
C0400991|The presence of cyst of the intrahepatic bile duct.|HPO|N|
C0400998|The leakage of bile into the abdominal cavity as a result of injury to the bile duct.|NCI|N|
C0401006|Leakage of bile due to breakdown of a biliary anastomosis.|NCI|N|
C0401148|Constipation of sudden onset and lasting for less than three months.|HPO|N|
C0401149|Constipation for longer than three months with fewer than 3 bowel movements per week, straining, lumpy or hard stools, and a sensation of anorectal obstruction or incomplete defecation.|HPO|N|
C0401151|The presence of chronic diarrhea, which is usually taken to mean diarrhea that has persisted for over 4 weeks.|HPO|N|
C0401160|Nausea and/or vomiting co-occurring with a cycle of chemotherapy.|NCI|N|
C0403396|A type of nephrotic syndrome in which complete remission (albumin urine dipstick negative/trace or proteinuria <4mg/m2/d or urinary protein to creatinine ratio <200mg/g (<20 mg/mmol) for 3 consecutive days) is achieved within initial 4 weeks of corticosteroid therapy.|HPO|N|
C0403397|A form of nephrotic syndrome that does not respond to treatment with steroid medication, defined as persistent proteinuria despite 60mg/m2 or 2mg/kg for 8 weeks, after insuring no infection or non-adherence to medication.|HPO|N|
C0403398|A type of nephrotic syndrome in which two consecutive relapses (albumin urine dipstick at least 3+ or proteinuria greater than 40 mg/m2/d or urinary protein to creatinine ratio at least 2000 mg/g for 3 consecutive days) occur during corticosteroid therapy, or within 14 days of ceasing therapy.|HPO|N|
C0403399|The nephrotic syndrome is characterized clinically by proteinuria, hypoalbuminemia, hyperlipidemia, and edema. Kidney biopsies show nonspecific histologic changes such as minimal change, focal segmental glomerulosclerosis (FSGS), and diffuse mesangial proliferation. Approximately 20% of affected individuals have an inherited steroid-resistant form and progress to end-stage renal failure (summary by Fuchshuber et al., 1996).
Nephrotic syndrome type 1 (NPHS1) is characterized by prenatal onset of massive proteinuria followed by severe steroid-resistant nephrotic syndrome apparent at birth with rapid progression to end-stage renal failure (Kestila et al., 1998).
Because of confusion in the literature regarding use of the terms 'nephrotic syndrome' and 'focal segmental glomerulosclerosis' (see NOMENCLATURE section), these disorders in OMIM are classified as NPHS or FSGS according to how they were first designated in the literature.
Genetic Heterogeneity of Nephrotic Syndrome and Focal Segmental Glomerulosclerosis
Nephrotic syndrome and FSGS are genetically heterogeneous disorders representing a spectrum of hereditary renal diseases. See also NPHS2 (600995), caused by mutation in the podocin gene (604766); NPHS3 (610725), caused by mutation in the PLCE1 gene (608414); NPHS4 (256370), caused by mutation in the WT1 gene (607102); NPHS5 (614199), caused by mutation in the LAMB2 gene (150325); NPHS6 (614196), caused by mutation in the PTPRO gene (600579); NPHS7 (615008), caused by mutation in the DGKE gene (601440); NPHS8 (615244), caused by mutation in the ARHGDIA gene (601925); NPHS9 (615573), caused by mutation in the COQ8B gene (615567); NPHS10 (615861), caused by mutation in the EMP2 gene (602334); NPHS11 (616730), caused by mutation in the NUP107 gene (607617); NPHS12 (616892), caused by mutation in the NUP93 gene (614351); NPHS13 (616893), caused by mutation in the NUP205 gene (614352); NPHS14 (617575), caused by mutation in the SGPL1 gene (603729); NPHS15 (617609), caused by mutation in the MAGI2 gene (606382); NPHS16 (617783), caused by mutation in the KANK2 gene (614610), NPHS17 (618176), caused by mutation in the NUP85 gene (170285); NPHS18 (618177), caused by mutation in the NUP133 gene (607613); NPHS19 (618178), caused by mutation in the NUP160 gene (607614); NPHS20 (301028), caused by mutation in the TBC1D8B gene (301027); NPHS21 (618594) caused by mutation in the AVIL gene (613397); NPHS22 (619155), caused by mutation in the NOS1AP gene (605551); NPHS23 (619201), caused by mutation in the KIRREL1 gene (607428); NPHS24 (619263), caused by mutation in the DAAM2 gene (606627); and NPHS26 (620049), caused by mutation in the LAMA5 gene (601033).
The symbol NPHS25 has been used as an alternative designation for NPHS21.
See also FSGS1 (603278), caused by mutation in the ACTN4 gene (604638); FSGS2 (603965), caused by mutation in the TRPC6 gene (603652); FSGS3 (607832), associated with variation in the CD2AP gene (604241); FSGS4 (612551), mapped to chromosome 22q12; FSGS5 (613237), caused by mutation in the INF2 gene (610982); FSGS6 (614131), caused by mutation in the MYO1E gene (601479); FSGS7 (616002), caused by mutation in the PAX2 gene (167409); FSGS8 (616032), caused by mutation in the ANLN gene (616027); and FSGS9 (616220), caused by mutation in the CRB2 gene (609720).|OMIM|N|
C0403414|Inflammation of the glomeruli status post infection with nephritogenic streptococci, most often group A beta hemolytic streptococcus.|NCI|N|
C0403416|A type of extracapillary glomerulonephritis characterized by the formation of crescent-like cellular proliferation.|HPO|N|
C0403434|C1q nephropathy is a kidney disease in which a large amount of protein is lost in the urine. It is one of the many diseases that can cause the nephrotic syndrome.|MONDO|N|
C0403443|A rare, genetic hypertension characterized by an adult onset of increased blood pressure associated with nephropathy progressing to end-stage renal disease. Renal biopsy may show interstitial fibrosis, glomerulosclerosis and mild tubular atrophy. Increased serum creatinine and proteinuria have also been reported.|ORDO|N|
C0403445|An autosomal dominant disorder characterized by the triad of thrombocytopenia, giant platelets, and characteristic inclusions in peripheral blood leukocytes, with the additional features of nephritis, hearing loss, and eye abnormalities, mostly cataracts; it is associated with mutation of the MYH9 gene.|NCI|N|
C0403447|Conditions in which the KIDNEYS perform below the normal level for more than three months. Chronic kidney insufficiency is classified by five stages according to the decline in GLOMERULAR FILTRATION RATE and the degree of kidney damage (as measured by the level of PROTEINURIA). The most severe form is the end-stage renal disease (CHRONIC KIDNEY FAILURE). (Kidney Foundation: Kidney Disease Outcome Quality Initiative, 2002)|MSH|N|
C0403452|Acute kidney injury caused by ischemic necrosis of the renal cortex.|NCI|N|
C0403468|Acute form of kidney papillary necrosis.|MONDO|N|
C0403474|The presence of microscopic crystalline calcium precipitates in the form of oxalate and/or phosphate in the renal parenchyma.|HPO|N|
C0403476|The deposition of calcium salts in the parenchyma of the renal cortex (the outer portion of the kidney between the renal capsule and the renal medulla).|HPO|N|
C0403477|The deposition of calcium salts in the parenchyma of the renal medulla (innermost part of the kidney).|HPO|N|
C0403529|A rare, fulminant small vessel vasculitis that affects the capillary beds of the kidneys and lungs and characterized by the presence of anti-glomerular basement membrane (GBM) and, in its full-blown form, anti-alveolar basement membrane (ABM) antibodies. Consequently, it may manifest as a rapidly progressive, isolated glomerulonephritis (anti-GBM nephritis) or as a pulmonary-renal syndrome with severe lung hemorrhage.|ORDO|N|
C0403548|Focal segmental glomerulosclerosis-10 (FSGS10) is an autosomal dominant kidney disease characterized by isolated glomerulopathy without extrarenal manifestations. In particular, affected individuals do not have other signs of NPS. The renal disease is highly variable in severity and pathology, even within the same family. Most patients present in the first decades of life with proteinuria and hematuria, although onset of symptoms can manifest at any age, including late adulthood. Some patients progress to end-stage renal disease, whereas others have a stable disease course. Light microscopic analysis of renal biopsies shows a constellation of glomerular abnormalities, including focal segmental glomerulosclerosis (FSGS), minimal change disease (MCD), and, rarely, immune complex nephropathy. Electron microscopy characteristically shows an irregular thickening of the glomerular basement membrane (GBM) with electron-lucent areas containing accumulated bundles of type III collagen fibrils. The collagen deposition usually occurs in endothelial cells of the GBM; partial effacement of podocyte foot processes may also be present. These specific pathologic findings are similar to those observed in NPS patients with nephropathy. However, these findings may not always be present, which may make the diagnosis challenging (summary by Hall et al., 2017, Lei et al., 2020; review by Harita et al., 2017).
For a discussion of genetic heterogeneity of FSGS, see FSGS1 (603278).|OMIM|N|
C0403550|Mesangial sclerosis of the kidneys and eye abnormalities originally reported in a sister and brother, who also suffered from psychomotor retardation, both of whom died in early childhood.|JABL|N|
C0403553|Senior-Loken syndrome is an autosomal recessive disease with the main features of nephronophthisis (NPHP; see 256100) and Leber congenital amaurosis (see 204000). Mutations in some of the same genes that cause nephronophthisis (see 256100) cause Senior-Loken syndrome.
Genetic Heterogeneity of Senior-Loken Syndrome
Other forms of SLSN include SLSN4 (606996), caused by mutation in the NPHP4 gene (607215) on chromosome 1p36; SLSN5 (609254), caused by mutation in the NPHP5 gene (IQCB1; 609237) on chromosome 3q13; SLSN6 (610189), caused by mutation in the NPHP6 gene (CEP290; 610142) on chromosome 12q21; SLSN7 (613615), caused by mutation in the SDCCAG8 gene (613524) on chromosome 1q43; SLSN8 (616307), caused by mutation in the WDR19 gene (608151) on chromosome 4p14; and SLSN9 (616629), caused by mutation in the TRAF3IP1 gene (607380) on chromosome 2q37.
Another form of SLSN, SLSN3 (606995), has been mapped to a locus on chromosome 3q22, overlapping the NPHP3 locus (604387).|OMIM|N|
C0403554|Individuals with hereditary distal renal tubular acidosis (dRTA) typically present in infancy with failure to thrive, although later presentations can occur, especially in individuals with autosomal dominant SLC4A1-dRTA. Initial clinical manifestations can also include emesis, polyuria, polydipsia, constipation, diarrhea, decreased appetite, and episodes of dehydration. Electrolyte manifestations include hyperchloremic non-anion gap metabolic acidosis and hypokalemia. Renal complications of dRTA include nephrocalcinosis, nephrolithiasis, medullary cysts, and impaired renal function. Additional manifestations include bone demineralization (rickets, osteomalacia), growth deficiency, sensorineural hearing loss (in ATP6V0A4-, ATP6V1B1-, and FOXI1-dRTA), and hereditary hemolytic anemia (in some individuals with SLC4A1-dRTA).|GeneReviews|N|
C0403555|Urofacial syndrome (UFS) is characterized by prenatal or infantile onset of urinary bladder voiding dysfunction, abnormal facial movement with expression (resulting from abnormal co-contraction of the corners of the mouth and eyes), and often bowel dysfunction (constipation and/or encopresis). Bladder voiding dysfunction increases the risk for urinary incontinence, megacystis, vesicoureteric reflux, hydroureteronephrosis, urosepsis, and progressive renal impairment. In rare instances, an individual who has (a) a molecularly confirmed diagnosis and/or (b) an affected relative meeting clinical diagnostic criteria manifests only the characteristic facial features or only the urinary bladder voiding dysfunction (not both). Nocturnal lagophthalmos (incomplete closing of the eyes during sleep) appears to be a common and significant finding.|GeneReviews|N|
C0403557|Glomerulopathy with fibronectin deposits (GFND) is a genetically heterogeneous autosomal dominant disorder characterized clinically by proteinuria, microscopic hematuria, and hypertension that leads to end-stage renal failure in the second to fifth decade of life. Pathologic examination shows enlarged glomeruli with mesangial and subendothelial fibrillary deposits that show strong immunoreactivity to fibronectin (FN1; 135600) (Castelletti et al., 2008).
Genetic Heterogeneity of Glomerulopathy with Fibronectin Deposits
The GFND1 locus maps to chromosome 1q32. See also GFND2 (601894), which is caused by mutation in the FN1 gene (135600) on chromosome 2q35.|OMIM|N|
C0403559|A complication occurring during hemodialysis that is thought to be due to a rapid decrease in blood urea nitrogen, and is characterized by an increase in intracranial pressure resulting in nausea, headache, vomiting, restlessness, and/or a decreased level of consciousness.|NCI|N|
C0403592|Gradual loss of donor kidney function occurring months to years after transplantation. It is characterized by renal tubular atrophy, interstitial fibrosis, and arterial wall thickening.|NCI|N|
C0403608|A non-neoplastic or neoplastic disorder affecting the ureter.|NCI|N|
C0403632|An inflammation of the bladder which is not caused by an infection of the urinary tract. Representative examples include interstitial cystitis and radiation-induced cystitis.|NCI|N|
C0403673|The emission of semen and seminal fluid into the bladder instead of through the penis during orgasm.|HPO|N|
C0403719|The presence of uric acid-containing calculi (stones) in the kidneys.|HPO|N|
C0403720|X-linked recessive nephrolithiasis with renal failure (XRN) is a form of X-linked hypercalciuric nephrolithiasis, which comprises a group of disorders characterized by proximal renal tubular reabsorptive failure, hypercalciuria, nephrolithiasis, and renal insufficiency. These disorders have also been referred to as the 'Dent disease complex' (Scheinman, 1998; Gambaro et al., 2004). For a general discussion of Dent disease, see 300009.|OMIM|N|
C0403762|Circinate Balanitis: a cutaneous finding of Reiter''s syndrome, which in uncircumcised males has the appearance of a moist superficial erosion on the glans penis particularly around the urethral meatus. Lesions may also occur on the corona and shaft. In circumcised males comparable lesions occur on the glans or corona but are often characterized as hyperkeratotic papules or superficial erosions. Characteristically in Reiter''s syndrome these lesions are painless.|AIR|N|
C0403810|Spermatogenic arrest during meiosis is a cause of infertility. The histologic picture of meiotic arrest is rather constant. Meiotic arrest is characterized by germ cells that enter meiosis and undergo the first chromosomal reduction from 4n to 2n but are then unable to proceed further. This results in tubules containing spermatocytes as the latest developmental stage of germ cells. Meiotically arrested spermatocytes accumulate in the tubules, degenerate, and are easily distinguishable from normal spermatocytes by their partially condensed chromosomes. Although the cause of infertility in patients with meiotic arrest often remains unidentified, this histologic picture can be observed in patients with nonidiopathic infertility as well, such as in the case of microdeletions of the Y chromosome, chromosomal abnormalities, and cryptorchidism, suggesting that different causal factors can result in the same effect (summary by Luetjens et al., 2004).
Genetic Heterogeneity of Spermatogenic Failure
See SPGF2 (108420), caused by mutation in the MSH4 gene (602105) on chromosome 1p31; SPGF3 (606766), caused by mutation in the SLC26A8 gene (608480) on chromosome 6p21; SPGF4 (270960), caused by mutation in the SYCP3 gene (604759) on chromosome 12q23; SPGF5 (243060), caused by mutation in the AURKC gene (603495) on chromosome 19q13; SPGF6 (102530), caused by mutation in the SPATA16 gene (609856) on chromosome 3q26; SPGF7 (612997), caused by mutation in the CATSPER gene (606389) on chromosome 11q13; SPGF8 (613957), caused by mutation in the NR5A1 gene (184757) on chromosome 9q33; SPGF9 (613958), caused by mutation in the DPY19L2 gene (613893) on chromosome 12q14; SPGF10 (614822), caused by mutation in the SEPT12 gene (611562) on chromosome 16p13; SPGF11 (615081), caused by mutation in the KLHL10 gene (608778) on chromosome 17p21; SPGF12 (615413), caused by mutation in the NANOS1 gene (608226) on chromosome 10q26; SPGF13 (615841), caused by mutation in the TAF4B gene (601689) on chromosome 18q11; SPGF14 (615842), caused by mutation in the ZMYND15 gene (614312) on chromosome 17p13; SPGF15 (616950), caused by mutation in the SYCE1 gene (611486) on chromosome 10q26; SPGF16 (617187), caused by mutation in the SUN5 gene (613942) on chromosome 20q11; SPGF17 (617214), caused by mutation in the PLCZ1 gene (608075) on chromosome 12p12; SPGF18 (617576), caused by mutation in the DNAH1 gene (603332) on chromosome 3p21; SPGF19 (617592), caused by mutation in the CFAP43 gene (617558) on chromosome 10q25; SPGF20 (617593), caused by mutation in the CFAP44 gene (617559) on chromosome 3q13; SPGF21 (617644), caused by mutation in the BRDT gene (602144) on chromosome 1p22; SPGF22 (617706), caused by mutation in the MEIOB gene (617670) on chromosome 16p13; SPGF23 (617707), caused by mutation in the TEX14 gene (605792) on chromosome 17q22; SPGF24 (617959), caused by mutation in the CFAP69 gene (617949) on chromosome 7q21; SPGF25 (617960), caused by mutation in the TEX15 gene (605795) on chromosome 8p12; SPGF26 (617961), caused by mutation in the TSGA10 gene (607166) on chromosome 2q11; SPGF27 (617965), caused by mutation in the AK7 gene (615364) on chromosome 14q32; SPGF28 (618086), caused by mutation in the FANCM gene (609644) on chromosome 14q21; SPGF29 (618091), caused by mutation in the SPINK2 gene (605753) on chromosome 4q12; SPGF30 (618110), caused by mutation in the TDRD9 gene (617963) on chromosome 14q32; SPGF31 (618112), caused by mutation in the PMFBP1 gene (618085) on chromosome 16q22; SPGF32 (618115), caused by mutation in the SOHLH1 gene (610224) on chromosome 9q34; SPGF33 (618152), caused by mutation in the WDR66 gene (618146) on chromosome 12q24; SPGF34 (618153), caused by mutation in the FSIP2 gene (615796) on chromosome 2q32; SPGF35, caused by mutation in the QRICH2 gene (618304) on chromosome 17q25; SPGF36 (618420), caused by mutation in the PPP2R3C gene (615902) on chromosome 14q13; SPGF37 (618429), caused by mutation in the TTC21A gene (611430) on chromosome 3p22; SPGF38 (618433), caused by mutation in the ARMC2 gene (618424) on chromosome 6q21; SPGF39 (618643), caused by mutation in the DNAH17 gene (610063) on chromosome 17q25; SPGF40 (618664), caused by mutation in the CFAP65 gene (614270) on chromosome 2q35; SPGF41 (618670), caused by mutation in the CFAP70 gene (618661) on chromosome 10q22; SPGF42 (618745), caused by mutation in the TTC29 gene (618735) on chromosome 4q31; SPGF43 (618751), caused by mutation in the SPEF2 gene (610172) on chromosome 5p13; SPGF44 (619044), caused by mutation in the CEP112 gene (618980) on chromosome 17q24; SPGF45 (619094), caused by mutation in the DNAH2 gene (603333) on chromosome 17p13; SPGF46 (619095), caused by mutation in the DNAH8 gene (603337) on chromosome 6p21; SPGF47 (619102), caused by mutation in the DZIP1 gene (608671) on chromosome 13q32; SPGF48 (619108), caused by mutation in the M1AP gene (619098) on chromosome 2p13; SPGF49 (619144), caused by mutation in the CFAP58 gene (619129) on chromosome 10q25; SPGF50 (619145), caused by mutation in the XRCC2 gene (600375) on chromosome 7q36; SPGF51 (619177), caused by mutation in the CFAP91 gene (609910) on chromosome 3q13; SPGF52 (619202), caused by mutation in the C14ORF39 gene (617307) on chromosome 14q23; SPGF53 (619258), caused by mutation in the ACTL9 gene (619251) on chromosome 19p13; SPGF54 (619379), caused by mutation in the CATIP gene (619387) on chromosome 2q35; SPGF55 (619380), caused by mutation in the SPAG17 gene (616554) on chromosome 1p12; SPGF56 (619515), caused by mutation in the DNAH10 gene (605884) on chromosome 12q24; SPGF57 (619528), caused by mutation in the PNLDC1 gene (619529) on chromosome 6q25; SPGF58 (619585), caused by mutation in the IFT74 gene (608040) on chromosome 9p21; SPGF59 (619645), caused by mutation in the TERB2 gene (617131) on chromosome 15q21; SPGF60 (619646), caused by mutation in the TERB1 gene (617332) on chromosome 16q22; SPGF61 (619672), caused by mutation in the STAG3 gene (608489) on chromosome 7q22; SPGF62 (619673), caused by mutation in the RNF212 gene (612041) on chromosome 4p16; SPGF63 (619689), caused by mutation in the RPL10L gene (619655) on chromosome 14q21; SPGF64 (619696), caused by mutation in the FBXO43 gene (609110) on chromosome 8q22; SPGF65 (619712), caused by mutation in the DNHD1 gene (617277) on chromosome 11p15; SPGF66 (619799), caused by mutation in the ZPBP gene (608498) on chromosome 7p12; SPGF67 (619803), caused by mutation in the CCDC62 gene (613481) on chromosome 12q24; SPGF68 (619805), caused by mutation in the C2CD6 gene (613481) on chromosome 2q33; SPGF69 (619826), caused by mutation in the GGN gene (609966) on chromosome 19q13; SPGF70 (619828), caused by mutation in the PDHA2 gene (179061) on chromosome 4q22; SPGF71 (619831), caused by mutation in the ZSWIM7 gene (614535) on chromosome 17p12; SPGF72 (619867), caused by mutation in the WDR19 gene (608151) on chromosome 4p14; SPGF73 (619878), caused by mutation in the MOV10L1 gene (605794) on chromosome 22q13; SPGF74 (619937), caused by mutation in the MSH5 gene (603382) on chromosome 6p21; SPGF75 (619949), caused by mutation in the SHOC1 gene (618038) on chromosome 9q31; SPGF76 (620084), caused by mutation in the CCDC34 gene (612324) on chromosome 11p14; SPGF77 (620103), caused by mutation in the FKBP6 gene (604839) on chromosome 7q11; SPGF78 (620170), caused by mutation in the IQCN gene (620160) on chromosome 19p13; SPGF79 (620196), caused by mutation in the KCNU1 gene (615215) on chromosome 8p11; SPGF80 (620222), caused by mutation in the DRC1 gene (615288) on chromosome 2p23; SPGF81 (620277), caused by mutation in the TEKT3 gene (612683) on chromosome 17p12; SPGF82 (620353), caused by mutation in the AKAP3 gene (604689) on chromosome 12p13; SPGF83 (620354), caused by mutation in the DNALI1 gene (602135) on chromosome 1p34; SPGF84 (620409), caused by mutation in the CFAP61 gene (620381) on chromosome 20p11; SPGF85 (620490), caused by mutation in|OMIM|N|
C0403811|Non-syndromic male infertility due to sperm motility disorder is a rare, genetic, non-syndromic male infertility disorder characterized by infertility due to sperm with defects in their cilia/flagella structure, leading to absent motility or reduced forward motility in fresh ejaculate. Reduced semen volume, oligospermia and an increased number of abnormally structured spermatozoa is often present.|ORDO|N|
C0403812|Spermatogenic failure-5 (SPGF5) is a form of male infertility associated with large-headed, multiflagellar, polyploid spermatozoa (Dieterich et al., 2007).
For a general phenotypic description and a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).|OMIM|N|
C0403814|Cystic fibrosis (CF) is a multisystem disease affecting epithelia of the respiratory tract, exocrine pancreas, intestine, hepatobiliary system, and exocrine sweat glands. Morbidities include recurrent sinusitis and bronchitis, progressive obstructive pulmonary disease with bronchiectasis, exocrine pancreatic deficiency and malnutrition, pancreatitis, gastrointestinal manifestations (meconium ileus, rectal prolapse, distal intestinal obstructive syndrome), liver disease, diabetes, male infertility due to hypoplasia or aplasia of the vas deferens, and reduced fertility or infertility in some women. Pulmonary disease is the major cause of morbidity and mortality in CF.|GeneReviews|N|
C0403818|Testicular failure, the cause of which is not present at birth.|NCI|N|
C0403823|An abnormal reduction in the mobility of ejaculated sperm.|HPO|N|
C0403824|A structural anomaly of sperm.|HPO|N|
C0403825|Spermatogenic failure-6 (SPGF6) is a form of male infertility with globozoospermia. The acrosome is a unique structure of the mature spermatozoon, which plays an important role at the site of sperm-zonapellucida binding during the fertilization process. Globozoospermia (also called round-headed spermatozoa) is a human infertility syndrome caused by spermatogenesis defects (Lalonde et al., 1988, Singh, 1992). The most prominent feature of globozoospermia is the malformation of the acrosome and, in the most severe cases, the acrosome is totally absent. Globozoospermia is also characterized by abnormal nuclear shape as well as abnormal arrangement of the mitochondria of the spermatozoon (Battaglia et al., 1997).
For a discussion of phenotypic and genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).|OMIM|N|
C0404479|A disease or disorder that involves the broad ligament of uterus.|MONDO|N|
C0404521|An infectious process affecting the vagina. Symptoms include pain and purulent discharge.|NCI|N|
C0404533|An indication that the anogenital distance is less than the norm.|NCI|N|
C0404545|A rare, non-malformative gynecologic disease characterized by the presence of functional endometrial glands and stroma in extrapelvic locations, such as lungs, pleura, kidneys, bladder, abdominal wall, umbilicus, and cesarean section scar among others. Clinical manifestations are menstrually-related and depend on the location of the ectopic tissue, but in general include pain, mass/nodule, swelling and/or bleeding in the involved area.|ORPHANET|N|
C0404852|A multiple pregnancy that over time is spontaneously reduced by one or more embryos which are then resorbed.|NCI|N|
C0404867|A type of pregnancy which starts with the embryo in the interstitial section of the fallopian tube, which then grows into the uterine cavity.|NCI|N|
C0404990|Endometritis that develops following an abortion.|NCI|N|
C0405028|Increased length of the umbilical cord.|HPO|N|
C0405107|A condition in which the placenta implants abnormally into the uterine myometrium, rather than implanting into the uterine decidua basalis as is normal.|NCI|N|
C0405124|A complication of pregnancy and delivery in which the umbilical cord wraps around the fetal neck once or multiple times.|HPO|N|
C0405327|Death resulting from conditions or complications which are unique to pregnancy and occur during the antepartum, intrapartum, or postpartum period.|NCI|N|
C0405329|Death from any obstetric cause occurring more than 42 days but less than one year after delivery.|SNOMEDCT_US|N|
C0405469|A rare gynecologic or obstetric disease characterized by a painful, palpable breast mass with relative sparing of the subareolar regions, often associated with inflammation of the overlying skin and accompanied by axillary lymphadenopathy. It usually occurs in young parous women with a history of breast-feeding. The diagnosis of idiopathic granulomatous mastitis requires that other granulomatous lesions in the breast be excluded.|ORDO|N|
C0405471|Familial juvenile hypertrophy of the breast (JHB) is a rare condition characterized by gigantomastia in peripubertal females. The pathology is limited to the breast with otherwise normal growth and development (summary by Genzer-Nir et al., 2010).
A syndrome has been described in which affected females display JHB in association with onychodystrophy/anonychia and abnormalities of the distal phalanges (ODP; see 106995), whereas males have only ODP (mammary-digital-nail syndrome; 613689).|OMIM|N|
C0405580|An endocrine or hormonal disorder that occurs when the adrenal cortex does not produce enough of the hormone cortisol and in some cases, the hormone aldosterone. It may be due to a disorder of the adrenal cortex (Addison''s disease or primary adrenal insufficiency) or to inadequate secretion of ACTH by the pituitary gland (secondary adrenal insufficiency).|NCI|N|
C0405582|A rare 46,XY disorder of gonadal development characterized by congenital complete absence of testicular tissue in an individual with an otherwise normal male phenotype and normal karyotype. In addition, a small penis is a frequent finding in anorchid patients. Typical hormonal characteristics are elevated basal levels of gonadotropins (especially FSH), low concentration of testosterone, and lack of increase of plasma testosterone in response to hCG administration. The GnRH stimulation test induces a prolonged increase in FSH and LH levels.|ORDO|N|
C0406047|An infection involving the surface of the skin and subcutaneous tissues in a defined area of the body.|NCI|N|
C0406217|Hereditary polymorphic light eruption is a form of photosensitivity found in the American Indians of the central plains of Canada and the United States and in the Indians of Central and South America. The disorder has also been called familial actinic prurigo, solar dermatitis, and hydroa aestivale. In northern latitudes, skin lesions appear on exposed areas early in spring, become severe during the summer, and abate in the fall. Usually the disorder appears in childhood with eczematous crusted eruptions on the face and arms. Fissured, crusted exudative cheilitis develops on the lips, especially the lower lip. The dorsum of the hands, the laterodorsal aspects of the forearms, and the lower half of the arms often show excoriated papular and nodular lesions. Children frequently have complicating pyoderma. Adults usually exhibit an erythematous plaquelike eruption on the face and other exposed areas. The disease is more severe in children than in adults. Glomerulonephritis can follow streptococcal pyoderma (summary by Fusaro and Johnson, 1980).|OMIM|N|
C0406305|A dermatosis with pruritic sterile papules and pustules that come together to form plaques with papulovesicular borders, and a tendency toward central clearing and hyperpigmentation, with spontaneous exacerbations and remissions. Histologically variable with folliculitis of follicle sheath and perifollicular dermis and spongiosis of follicular epithelium, sometimes with peripheral leukocytosis and or eosinophilia and or eosinophilic abscesses.|SNOMEDCT_US|N|
C0406322|Psoriatic nail abnormality characterized by the presence of neutrophils in the nail bed epithelium, hyperkeratosis with parakeratosis, presence of exudates on the corneal epithelium, focal hypogranulosis and psoriasiform hyperplasia of the nail bed.|HPO|N|
C0406355|Bazex syndrome is a rare paraneoplastic syndrome characterized by acral psoriasiform lesions.|ORPHANET|N|
C0406363|A rare variant of cutaneous lichen planus characterized by the development of annular lesions.|ORDO|N|
C0406365|A rare cutaneous lichen planus characterized by the development of photo-distributed lichenoid lesions.|ORDO|N|
C0406366|A rare variant of cutaneous lichen planus with the presence of hyperpigmented lichenoid lesions in sun-exposed or flexural areas of the body. A rare disease in Europe but it is common in Indian populations and in the Middle East. The overall prevalence is unknown. There is no difference in distribution between males and females. The disease usually appears in the third and fourth decade of life. The lesions are asymptomatic or mildly pruritic. Skin changes are dark brown or slate gray macules or papules with, in most cases, a diffuse pigmentation pattern. They most commonly affect the face, neck and upper limbs. Cause is unknown but various factors (e.g. viral infections and certain topical agents including mustard oil and henna hair dyes) can trigger the disease.|SNOMEDCT_US|N|
C0406369|Lichen planus (LP) pemphigoides is a rare cross-over syndrome between lichen planus and bullous pemphigoid (see these terms).|ORDO|N|
C0406409|Aquagenic pruritus is a conditionin which contact with water of any temperature causes intense itching, without any visible skin changes. The symptoms may begin immediately after contact and can last for an hour or more. The cause of aquagenic pruritus is unknown; however, familial cases have been described. It may be a symptom of polycythemia vera or another underlying condition. Overall, treatment is a challenge. Antihistamines, UVB phototherapy, PUVA therapy and various medications have been tried with varying degrees of success.|MONDO|N|
C0406419|Carbon baby syndrome, also known as universal acquired melanosis, is a rare form of hyperpigmentation. The skin of affected infants progressively darkens over the first years of life in the absence of other symptoms. The cause of the condition is unknown.|MONDO|N|
C0406438|Inward advance of skin over the nail plate.|HPO|N|
C0406443|Many types of nonsyndromic congenital nail disorders (NDNC) have been described. Twenty-nail dystrophy (TND), also known as trachyonychia (from the Greek for 'rough nails'), is an autosomal dominant nail dystrophy characterized by excessive longitudinal striations and numerous superficial pits on the nails, which have a distinctive rough sandpaper-like appearance. Occasionally some nails are spared. The slowly progressive condition is usually apparent at birth and may be self-limiting, with spontaneous resolution in some patients (summary by Sehgal, 2007). TND is referred to here as nonsyndromic congenital nail disorder-1 (NDNC1).
Genetic Heterogeneity of Nonsyndromic Congenital Nail Disorders
Other nonsyndromic congenital nail disorders include koilonychia (NDNC2; 149300); leukonychia (NDNC3; 151600) caused by mutation in the PLCD1 gene (602142) on chromosome 3p22; anonychia/hyponychia (NDNC4; 206800) caused by mutation in the RSPO4 gene (610673) on chromosome 20p13; partial onycholysis with scleronychia (NDNC5; 164800); anonychia of thumbs with onychodystrophy of other nails (NDNC6; 107000); onychodystrophy mapping to chromosome 17p13 (NDNC7; 605779); toenail dystrophy (NDNC8; 607523) caused by mutation in the COL7A1 gene (120120) on chromosome 3p21; onychodystrophy mapping to chromosome 17q25.1-q25.3 (NDNC9; 614149).|OMIM|N|
C0406464|Erosive pustular dermatosis of the scalp is a rare chronic inflammation of the scalp usually occurring in elderly women (>70 years old) and characterized by the development of painful pustules, shallow erosions, and crusting on atrophic skin that eventually result in cicatricial alopecia.|ORDO|N|
C0406468|Loose anagen syndrome is a rare benign hair disorder affecting predominantly blond females in childhood and characterized by the presence of hair that can be easily and painlessly pulled out. Most of the hair is in the anagen phase and lacks an external epithelial sheath. Hair grows back quickly and the condition improves spontaneously with aging. Loose anagen hair can be associated with other anomalies, such as coloboma.|ORDO|N|
C0406481|A type of acne in which open and closed comedones comprise the majority of the lesions, with substantially fewer papules and pustules.|HPO|N|
C0406484|A common, benign skin condition involving hypertrophy of the sebaceous glands characterized by single or multiple lesions that manifest as yellow, soft, small papules with umbilication. The lesions are located commonly on the central face (specifically, the nose, cheeks and forehead) but may also occur elsewhere, including the chest, mouth, scrotum, foreskin, penile shaft, vulva, and areola.|HPO|N|
C0406500|A decrease in lower leg circumference due to recurrent ulceration and fat necrosis causing loss of subcutaneous tissue in a patient with venous stasis disease.|SNOMEDCT_US|N|
C0406502|A rare skin disease characterized by widespread cutaneous telangiectases usually &#64257;rst appearing on the lower limbs and slowly progressing upwards to involve the trunk and arms. The lesions can be diffuse, localized, macular, plaque-like, discrete, or con&#64258;uent. Recurrent bleeding from the skin and mucous membranes is not a common feature. Likewise, co-existing epidermal or dermal abnormalities, like atrophy, depigmentation, or purpura, are absent. The condition is non-hereditary, and to establish the diagnosis, other primary and secondary telangiectases must be excluded.|ORDO|N|
C0406509|A rare vascular skin disease with characteristics of recurrent focal non-inflammatory thrombosis of dermal venulae, predominantly of the lower extremities, resulting in a cutaneous response manifested as pruritus and painful papules and erythematous plaques. The lesions evolve into haemorrhagic vesicles or bullae, which rupture and turn into painful ulcers merging into reticulate, confluent, geometric and painful ulcerations. During a period of a few months, the ulcerations change to porcelain-white atrophic scars with punctate telangiectasia (so-called atrophie blanche). In active disease, lesions in different stages coexist.|SNOMEDCT_US|N|
C0406537|Dermatoid drug eruption characterized by widespread erythematous macules and papules often associated with a mild fever and itch.|MSH|N|
C0406549|An instance of cutis laxa that is acquired during the lifetime of the individual.|MONDO|N|
C0406550|Primary anetoderma is a rare skin disease characterized by loss of elastin tissue resulting in localized areas of flaccid skin in the absence of a secondary cause.|ORDO|N|
C0406555|An extremely rare, acquired, dermis elastic tissue disorder characterized by localized increased skin laxity associated with delayed skin recoil, typically occurring on the elbows, knees and/or neck. Histologically, focal abundace of elastic tissue in the dermis with pleomorphic and fragmented elastic fibers, without calcification, is observed.|ORDO|N|
C0406556|A rare hereditary poikiloderma characterized by infantile onset of vesicopustule formation on hands and feet and widespread eczematoid dermatitis (both spontaneously resolving during childhood), as well as gradually developing diffuse poikiloderma with striate and reticulate atrophy (excluding the face, scalp, and ears), and development of keratotic papules on hands, feet, elbows, and knees, beginning in early childhood. There have been no further descriptions in the literature since 1981.|ORDO|N|
C0406557|Kindler syndrome (KS), a rare subtype of inherited epidermolysis bullosa, is characterized by skin fragility and acral blister formation beginning at birth, diffuse cutaneous atrophy, photosensitivity (most prominent during childhood and usually decreasing after adolescence), poikiloderma, diffuse palmoplantar hyperkeratosis, and pseudosyndactyly. Mucosal manifestations are also common and include hemorrhagic mucositis and gingivitis, periodontal disease, premature loss of teeth, and labial leukokeratosis. Other mucosal findings can include ectropion, urethral stenosis, and severe phimosis. Severe long-term complications of KS include periodontitis, mucosal strictures, and aggressive squamous cell carcinomas. Manifestations can range from mild to severe.|GeneReviews|N|
C0406568|A rare autoinflammatory syndrome with characteristics of the presence of features of relapsing polychondritis and Behcet disease in the same individual. This includes cartilage inflammation of the ears, nose, throat and rib cage as well as recurrent oral and genital ulcers respectively. Patients may also present ocular involvement (in particular anterior uveitis or scleritis), arthritis, fever, colitis, thrombophlebitis, and central nervous system vasculitis or in rare cases arterial aneurysms. Symptoms of polychondritis occur secondary to those of Behcet disease in the vast majority of cases.|SNOMEDCT_US|N|
C0406571|A poorly circumscribed, intermediate fibrocytic neoplasm arising from the superficial soft tissues. It is characterized by the presence of spindle-shaped fibroblasts, and an infiltrative growth pattern.|NCI|N|
C0406584|A rare premature aging syndrome characterized by atrophy of the skin and subcutaneous tissue involving predominantly the distal parts of the extremities, resulting in prematurely aged appearance of the hand and feet. Another prominent feature is the characteristic facies with hollow cheeks, beaked nose, and owl-like eyes. Additional, non-dermatological manifestations, like bone anomalies have been described in some patients. Mode of inheritance has not been definitively established.|ORDO|N|
C0406585|Restrictive dermopathy is a rare, lethal genodermatosis with characteristic manifestations that are easily recognizable at birth: thin, tightly adherent translucent skin with erosions at flexure sites, superficial vessels, typical facial dysmorphism, and generalized joint ankylosis. Prenatal signs can include intrauterine growth retardation, reduced fetal movements, polyhydramnios, and premature rupture of the membranes. Most infants die within the first week of life (summary by Smigiel et al., 2010).
Genetic Heterogeneity of Restrictive Dermopathy
See also RSMD2 (619793), caused by mutation in the LMNA gene (150330) on chromosome 1q22.|OMIM|N|
C0406586|Wiedemann-Rautenstrauch syndrome (WDRTS) is a rare autosomal recessive neonatal progeroid disorder characterized by intrauterine growth retardation, failure to thrive, short stature, a progeroid appearance, hypotonia, and variable mental impairment (summary by Toriello, 1990). Average survival in WDRTS is 7 months, although survival into the third decade of life has been reported (Akawi et al., 2013).|OMIM|N|
C0406587|ATP6V0A2-related cutis laxa is characterized by generalized cutis laxa, findings associated with generalized connective tissue disorder, developmental delays, and a variety of neurologic findings including abnormality on brain MRI. At birth, hypotonia, overfolded skin, and distinctive facial features are present and enlarged fontanelles are often observed. During childhood, the characteristic facial features and thick or coarse hair may become quite pronounced. The skin findings decrease with age, although easy bruising and Ehlers-Danlos-like scars have been described in some. In most (not all) affected individuals, cortical and cerebellar malformations are observed on brain MRI. Nearly all affected individuals have developmental delays, seizures, and neurologic regression.|GeneReviews|N|
C0406594|Cytophagic histiocytic panniculitis (CHP) is a very rare form of panniculitis manifesting as recurrent multiple subcutaneous nodules (which may progressively become ecchymotic and ulcerated), and histologically characterized by lobular panniculitis with lymphocytic and histiocytic infiltration in the subcutaneous adipose tissue.|ORDO|N|
C0406605|Centrifugal lipodystrophy is a rare, acquired, localized lipodistrophy characterized by single or, occasionally, multiple, centrifugally progressive, asymptomatic to sometimes mildly tender, hypopigmented, lipoatrophic skin depressions with weakly erymatheous inflammatory borders, typically associated with regional ipsilateral lymph nodes swelling. Lesions typically occur on lower trunk (in particular groin and abdomen region), followed by upper trunk (axilla and neighboring regions) and, rarely, neck and head. It is usually not associated with systemic disease and is typically self-resolving.|ORDO|N|
C0406608|Overgrowth of fat in the perivesical and perirectal area.|HPO|N|
C0406612|Encephalocraniocutaneous lipomatosis (ECCL) comprises a spectrum of predominantly congenital anomalies. In its typical form, ECCL is characterized by congenital anomalies of the skin (nevus psiloliparus, patchy or streaky non-scarring alopecia, subcutaneous lipomas in the frontotemporal region, focal skin aplasia or hypoplasia on the scalp, and/or small nodular skin tags on the eyelids or between the outer canthus and tragus), eye (choristoma), and brain (in particular intracranial and spinal lipomas). To a much lesser degree, the bones and the heart can be affected. About 40% of affected individuals have bilateral abnormalities of the skin or the eyes. About one third of affected individuals have normal cognitive development, another one third have mild developmental delay (DD) or intellectual disability (ID), and the final one third have severe or unspecified DD/ID. Half of individuals have seizures. Affected individuals are at an increased (i.e., above the general population) risk of developing brain tumors, particularly low-grade gliomas such as pilocytic astrocytomas. There is evidence that oculoectodermal syndrome (OES) may constitute a clinical spectrum with ECCL, with OES on the mild end and ECCL on the more severe end of the spectrum.|GeneReviews|N|
C0406636|A rare form of chronic cutaneous lupus erythematosus characterized by extreme photosensitivity with intermittent formation of erythematous, edematous, urticarial-like, smooth plaques on sun-exposed skin areas. The lesions heal without scarring. The course of the disease is benign, and development of systemic lupus erythematosus is infrequent. Most patients do not have lupus-related autoantibodies. Skin biopsy shows a perivascular and periadnexal lymphocytic infiltrate and increased dermal mucin deposition without involvement of the dermoepidermal junction.|ORDO|N|
C0406637|A form of lupus erythematosus (discoid or systemic) with annular lesions of the skin like erythema multiforme associated with a characteristic pattern of immunological abnormalities.|MONDO|N|
C0406645|A form of dermatomyositis characterized by the presence of typicalskin findingswithout muscle weakness.Some of the skinchanges that suggest dermatomyositis include a pink rash on the face, neck, forearms and upper chest; Gottron's papules and heliotrope eyelids. Pruritis and photosensitivity are common, as is scalp inflammation and thinning of the hair.While patients with amyopathic dermatomyositis should not have clinically evident muscle weakness, minor muscle abnormalities may be included.Fatigue is reported in at least 50% of patients. Some cases have beenassociated with internal malignancy and/or interstitial lung disease. Treatment may include sun avoidance, ample use of sunscreen, topical corticosteroids, antimalarial agents, methotrexate, mycophenolate mofetil, or intravenous (IV) immunoglobulin.|MONDO|N|
C0406650|A rare, acquired autoimmune bullous skin disease characterized by annular, grouped blisters on the skin and, frequently, mucous membranes with linear deposition of immunoglobulin A along the basement membrane zone (BMZ).|ORDO|N|
C0406657|Self-healing papular mucinosis is a rare form of localized lichen myxedematosus (see this term) occurring primarily in children and characterized by the development of mucinous papules on various parts of the body (face, neck, trunk, and limbs) that resolve spontaneously within some weeks to months. Systemic symptoms can be observed such as fever, arthralgias and weakness.|ORDO|N|
C0406660|A rare chronic form of localized lichen myxedematosus characterized by the development of multiple symmetrical skin-colored mucinous papules exclusively on the extensor surface of the hands and distal forearms.|ORDO|N|
C0406670|Pain in the vulvar area|HPO|N|
C0406687|A rare subtype of pyoderma gangrenosum disease characterized by grouped vesicles that rapidly spread and coalesce to form large bullae, which evolve into ulcerations that have an erythematous peripheral halo and central necrosis, mainly affecting the upper limbs and face. Lymphoproliferative diseases are frequently associated, thus prognosis is often compromised.|ORDO|N|
C0406701|Hypohidrotic ectodermal dysplasia (HED) is characterized by hypotrichosis (sparseness of scalp and body hair), hypohidrosis (reduced ability to sweat), and hypodontia (congenital absence of teeth). The cardinal features of classic HED become obvious during childhood. The scalp hair is thin, lightly pigmented, and slow growing. Sweating, although present, is greatly deficient, leading to episodes of hyperthermia until the affected individual or family acquires experience with environmental modifications to control temperature. Only a few abnormally formed teeth erupt, at a later-than-average age. Physical growth and psychomotor development are otherwise within normal limits. Mild HED is characterized by mild manifestations of any or all the characteristic features.|GeneReviews|N|
C0406702|A rare autosomal recessive disorder characterized by developmental abnormalities of the skin, sweat glands, hair and nails. Patients have a reduced ability to sweat. Other signs and symptoms include hypotrichosis and teeth malformations.|NCI|N|
C0406704|EEC syndrome is a genetic developmental disorder characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip/palate).|ORDO|N|
C0406707|Complete congenital absence of dermatoglyphs is a rare syndrome characterized by autosomal dominant inheritance of the lack of ridges on palms and soles, neonatal acral blisters and facial milia, adult traumatic blistering and fissuring, absent or reduced sweating of palms and soles, and contracture of digits. Additional features may include single palmar transverse crease, palmoplantar keratoderma, and nail grooving (summary by Limova et al., 1993).|OMIM|N|
C0406709|The TP63-related disorders comprise six overlapping phenotypes: Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome (which includes Rapp-Hodgkin syndrome). Acro-dermo-ungual-lacrimal-tooth (ADULT) syndrome. Ectrodactyly, ectodermal dysplasia, cleft lip/palate syndrome 3 (EEC3). Limb-mammary syndrome. Split-hand/foot malformation type 4 (SHFM4). Isolated cleft lip/cleft palate (orofacial cleft 8). Individuals typically have varying combinations of ectodermal dysplasia (hypohidrosis, nail dysplasia, sparse hair, tooth abnormalities), cleft lip/palate, split-hand/foot malformation/syndactyly, lacrimal duct obstruction, hypopigmentation, hypoplastic breasts and/or nipples, and hypospadias. Findings associated with a single phenotype include ankyloblepharon filiforme adnatum (tissue strands that completely or partially fuse the upper and lower eyelids), skin erosions especially on the scalp associated with areas of scarring, and alopecia, trismus, and excessive freckling.|GeneReviews|N|
C0406715|A rare, ectodermal dysplasia syndrome characterized by hypodontia of primary or permanent dentition, and nail dysplasia manifesting as dystrophic fingernails and toenails, and thin, flat nail plates. Additional signs and symptoms may include sparse, slow-growing and fine scalp hair, thin scanty eyebrows, poor jaw development, everted lower lip, dry skin, and sweat gland involvement.|ORPHANET|N|
C0406723|GAPO syndrome is the acronymic designation for a complex of growth retardation, alopecia, pseudoanodontia (failure of tooth eruption), and progressive optic atrophy (Tipton and Gorlin, 1984). Ilker et al. (1999) and Bayram et al. (2014) noted that optic atrophy is not a consistent feature of the disorder.|OMIM|N|
C0406724|A rare ectodermal dysplasia syndrome characterized by the association of sparse, fine, dry, slow growing hair with variable dental abnormalities including oligodontia, peg-shaped incisors, and shell teeth. Mild intellectual disability, microcephaly, and dysmorphic facial features have also been reported.|ORDO|N|
C0406726|Other features occur in only one or a few types of oral-facial digital syndrome. These features help distinguish the different forms of the disorder. For example, the most common form of oral-facial-digital syndrome, type I, is associated with polycystic kidney disease. This kidney disease is characterized by the growth of fluid-filled sacs (cysts) that interfere with the kidneys' ability to filter waste products from the blood. Other forms of oral-facial-digital syndrome are characterized by neurological problems, particular changes in the structure of the brain, bone abnormalities, vision loss, and heart defects.\n\nAbnormalities of the digits can affect both the fingers and the toes in people with oral-facial-digital syndrome. These abnormalities include fusion of certain fingers or toes (syndactyly), digits that are shorter than usual (brachydactyly), or digits that are unusually curved (clinodactyly). The presence of extra digits (polydactyly) is also seen in most forms of oral-facial-digital syndrome.\n\nDistinctive facial features often associated with oral-facial-digital syndrome include a split in the lip (a cleft lip); a wide nose with a broad, flat nasal bridge; and widely spaced eyes (hypertelorism).\n\nAbnormalities of the oral cavity that occur in many types of oral-facial-digital syndrome include a split (cleft) in the tongue, a tongue with an unusual lobed shape, and the growth of noncancerous tumors or nodules on the tongue. Affected individuals may also have extra, missing, or defective teeth. Another common feature is an opening in the roof of the mouth (a cleft palate). Some people with oral-facial-digital syndrome have bands of extra tissue (called hyperplastic frenula) that abnormally attach the lip to the gums.\n\nThe signs and symptoms of oral-facial-digital syndrome vary widely. However, most forms of this disorder involve problems with development of the oral cavity, facial features, and digits. Most forms are also associated with brain abnormalities and some degree of intellectual disability.\n\nResearchers have identified at least 13 potential forms of oral-facial-digital syndrome. The different types are classified by their patterns of signs and symptoms. However, the features of the various types overlap significantly, and some types are not well defined. The classification system for oral-facial-digital syndrome continues to evolve as researchers find more affected individuals and learn more about this disorder.\n\nOral-facial-digital syndrome is actually a group of related conditions that affect the development of the oral cavity (the mouth and teeth), facial features, and digits (fingers and toes).|MedlinePlus Genetics|N|
C0406727|Oral-facial-digital syndrome is actually a group of related conditions that affect the development of the oral cavity (the mouth and teeth), facial features, and digits (fingers and toes).\n\nResearchers have identified at least 13 potential forms of oral-facial-digital syndrome. The different types are classified by their patterns of signs and symptoms. However, the features of the various types overlap significantly, and some types are not well defined. The classification system for oral-facial-digital syndrome continues to evolve as researchers find more affected individuals and learn more about this disorder.\n\nThe signs and symptoms of oral-facial-digital syndrome vary widely. However, most forms of this disorder involve problems with development of the oral cavity, facial features, and digits. Most forms are also associated with brain abnormalities and some degree of intellectual disability.\n\nAbnormalities of the oral cavity that occur in many types of oral-facial-digital syndrome include a split (cleft) in the tongue, a tongue with an unusual lobed shape, and the growth of noncancerous tumors or nodules on the tongue. Affected individuals may also have extra, missing, or defective teeth. Another common feature is an opening in the roof of the mouth (a cleft palate). Some people with oral-facial-digital syndrome have bands of extra tissue (called hyperplastic frenula) that abnormally attach the lip to the gums.\n\nDistinctive facial features often associated with oral-facial-digital syndrome include a split in the lip (a cleft lip); a wide nose with a broad, flat nasal bridge; and widely spaced eyes (hypertelorism).\n\nAbnormalities of the digits can affect both the fingers and the toes in people with oral-facial-digital syndrome. These abnormalities include fusion of certain fingers or toes (syndactyly), digits that are shorter than usual (brachydactyly), or digits that are unusually curved (clinodactyly). The presence of extra digits (polydactyly) is also seen in most forms of oral-facial-digital syndrome.\n\nOther features occur in only one or a few types of oral-facial digital syndrome. These features help distinguish the different forms of the disorder. For example, the most common form of oral-facial-digital syndrome, type I, is associated with polycystic kidney disease. This kidney disease is characterized by the growth of fluid-filled sacs (cysts) that interfere with the kidneys' ability to filter waste products from the blood. Other forms of oral-facial-digital syndrome are characterized by neurological problems, particular changes in the structure of the brain, bone abnormalities, vision loss, and heart defects.|MedlinePlus Genetics|N|
C0406729|Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome is a rare ectodermal dysplasia syndrome characterized by congenital generalized melanoleukoderma, hypodontia and hypotrichosis associated with infantilism, intellectual disability and growth delay. There have been no further descriptions in the literature since 1961.|ORPHANET|N|
C0406733|CHAND syndrome is characterized by ankyloblepharon, sparse, curly, and woolly hair, nail dysplasia, and oral frenula (summary by Busa et al., 2017).|OMIM|N|
C0406735|Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings.
Witkop syndrome is a rare autosomal dominant ectodermal dysplasia involving the teeth and nails. Although a few reported cases have sparse or fine hair, almost all affected individuals have normal hair, sweat glands, and ability to tolerate heat. Affected individuals have a variable number and variable types of congenitally missing permanent and/or primary teeth, which frequently results in lip eversion due to loss of occlusion in the vertical dimension. Nails are generally thin, slow-growing, brittle, and spoon-shaped (koilonychia). Toenails are usually more severely affected than fingernails. The nail defects are alleviated with age and may not be easily detectable during adulthood (summary by Jumlongras et al., 2001).|OMIM|N|
C0406740|Kohlschutter-Tonz syndrome (KTZS) is an autosomal recessive disorder characterized by severe global developmental delay, early-onset intractable seizures, spasticity, and amelogenesis imperfecta affecting both primary and secondary teeth and causing yellow or brown discoloration of the teeth. Although the phenotype is consistent, there is variability. Impaired intellectual development is related to the severity of seizures, and the disorder can thus be considered an epileptic encephalopathy. Some infants show normal development until seizure onset, whereas others are delayed from birth. The most severely affected individuals have profound mental retardation, never acquire speech, and become bedridden early in life (summary by Schossig et al., 2012 and Mory et al., 2012).
See also Kohlschutter-Tonz syndrome-like (KTZSL; 619229), caused by heterozygous mutation in the SATB1 gene (602075) on chromosome 3p23.|OMIM|N|
C0406756|Keratolytic winter erythema, also known as Oudtshoorn skin disease, manifests during childhood with recurrent episodes of palmoplantar erythema and centrifugal epidermal peeling. Lateral and dorsal aspects of the hands and feet can be involved. A less common finding is a slowly migratory, annular erythema that is seen mostly on the extremities. Between flares, the skin may appear unremarkable. Hyperhidrosis, associated with a pungent odor, is invariably present, and itching can occur. Peeling is preceded by the formation of dry blisters due to keratolysis, whereas formation of vesicles or bullae is rare. Cold weather, moisture, febrile diseases, and physical and mental stress can trigger exacerbations. In severely affected individuals, skin manifestations persist unremittingly. Penetrance of the disease is high, but expressivity is variable, even within the same family (summary by Ngcungcu et al., 2017).|OMIM|N|
C0406757|An instance of palmoplantar keratosis that is caused by an inherited modification of the individual's genome.|MONDO|N|
C0406761|A hereditary palmoplantar keratoderma with characteristics of the combination of bilateral mutilating transgredient palmoplantar keratoderma and periorificial keratotic plaques.|SNOMEDCT_US|N|
C0406762|Circumscribed palmoplantar hypokeratosis is an ectodermal dysplasia characterised by circular, well-circumscribed patches of erythematous depressed skin.|ORDO|N|
C0406766|A hereditary syndrome this is characterized by palmoplantar keratoderma accompanied by leukoplakia and may be associated with a high lifetime risk of esophageal cancer, as seen in Howel-Evans Syndrome.|NCI|N|
C0406767|Huriez syndrome (HRZ) is characterized by the triad of congenital scleroatrophy of the distal extremities, palmoplantar keratoderma, and hypoplastic nail changes. The development of aggressive squamous cell carcinoma (SCC) in areas of affected skin is a distinctive feature of the syndrome, occurring in approximately 15% of patients. HRZ-associated SCC shows early onset, mostly in the third to fourth decades of life, and early metastasis formation (summary by Lee et al., 2000).
See also 610644 for description of a disorder resembling Huriez syndrome, involving palmoplantar hyperkeratosis and squamous cell carcinoma in association with SRY (480000)-negative female-to-male XX sex reversal, caused by mutation in the RSPO1 gene (609595).|OMIM|N|
C0406775|Dyschromatosis symmetrica hereditaria (DSH), also called symmetric dyschromatosis of the extremities and symmetric or reticulate acropigmentation of Dohi (Komaya, 1924), is characterized by hyperpigmented and hypopigmented macules on the face and dorsal aspects of the extremities that appear in infancy or early childhood. DSH generally shows an autosomal dominant pattern of inheritance with high penetrance. The condition has been reported predominantly in Japanese and Chinese individuals.
Review of Reticulate Pigment Disorders
Muller et al. (2012) reviewed the spectrum of reticulate pigment disorders of the skin, tabulating all reported cases of patients with Dowling-Degos disease (see DDD1; 179850), reticulate acropigmentation of Kitamura (RAK; 615537), reticulate acropigmentation of Dohi (RAD), Galli-Galli disease (GGD), and Haber syndrome (HS). Of 82 cases, 26 (31.7%) were clinically diagnosed as DDD, 13 (15.9%) as RAD, 11 (13.4%) as GGD, 8 (9.8%) as RAK, and 8 (9.8%) as HS; in addition, 16 (19.5%) of the cases showed overlap between DDD and RAK. Muller et al. (2012) also published photographs of an affected individual exhibiting an overlap of clinical features of DDD, GGD, RAD, and RAK. The authors noted that in reticulate disorders of the skin, the main disease entity is DDD, with a subset of cases exhibiting acantholysis (GGD), facial erythema (HS), or an acral distribution (RAD; RAK). Muller et al. (2012) concluded that all reticulate pigment diseases of the skin are varying manifestations of a single entity.
Genetic Heterogeneity of Reticulate Pigment Disorders
For a discussion of genetic heterogeneity of reticulate pigment disorders, see 179850.|OMIM|N|
C0406778|Dermatopathia pigmentosa reticularis (DPR) is a rare heritable disorder consisting of a triad of cutaneous findings including reticulate hyperpigmentation, noncicatricial alopecia, and onychodystrophy. Variable features include adermatoglyphia, hypohidrosis or hyperhidrosis, and palmoplantar hyperkeratosis (Heimer et al., 1992).|OMIM|N|
C0406779|A rare pigmentation anomaly of the skin characterized by otherwise asymptomatic hyperpigmentation of the skin over the dorsal side of fingers and toes which may rapidly spread towards proximal regions, like genitals, abdomen, and thighs. It is mostly seen in newborns or during the first years of life.|ORDO|N|
C0406782|A benign, self-limited eruption of vesicles, pustules and macules seen in newborns. The fluid-filled lesions typically rupture and resolve within 48 hours while the macular lesions may persist for months.|NCI|N|
C0406801|A rare, congenital skin lesion consisting of a proliferation of eccrine glands with a vascular stroma. It presents as a flesh-colored, hyperhidrotic, painful papule or plaque appearing at birth or during childhood.|NCI|N|
C0406803|A rare non-malignant adnexal neoplasm that originates from the apocrine or eccrine sweat glands and is characterized histologically by cystic, papillary, and ductal invaginations into the dermis lined by double-layered outer cuboidal and luminal high columnar epithelium and connected to the epidermis. Dilated capillaries and a dense infiltrate of plasma cells are characteristic. Clinically, lesions are asymptomatic with a heterogeneous, non-distinctive appearance ranging from skin-colored to pink papules or plaques, occurring most commonly in the head and neck area.|ORDO|N|
C0406806|A type of pilosebaceous hamartoma characterized by the development of a linear, flesh colored, fine papular eruption on the head, neck and upper chest after puberty.|NCI|N|
C0406810|Carney complex (CNC) is characterized by skin pigmentary abnormalities, myxomas, endocrine tumors or overactivity, and schwannomas. Pale brown to black lentigines are the most common presenting feature of CNC and typically increase in number at puberty. Cardiac myxomas occur at a young age, may occur in any or all cardiac chambers, and can manifest as intracardiac obstruction of blood flow, embolic phenomenon, and/or heart failure. Other sites for myxomas include the skin, breast, oropharynx, and female genital tract. Primary pigmented nodular adrenocortical disease (PPNAD), which causes Cushing syndrome, is the most frequently observed endocrine tumor in CNC, occurring in approximately 25% of affected individuals. Large-cell calcifying Sertoli cell tumors (LCCSCTs) are observed in one third of affected males within the first decade and in most adult males. Up to 75% of individuals with CNC have multiple thyroid nodules, most of which are nonfunctioning thyroid follicular adenomas. Clinically evident acromegaly from a growth hormone (GH)-producing adenoma is evident in approximately 10% of adults. Psammomatous melanotic schwannoma (PMS), a rare tumor of the nerve sheath, occurs in an estimated 10% of affected individuals. The median age of diagnosis is 20 years.|GeneReviews|N|
C0406811|A rare, genetic, hyperpigmentation of the skin disease characterized by childhood to adulthood-onset of reticulate, slightly depressed, sharply demarcated, brown, macular skin lesions without hypopigmentation, affecting the dorsa of the hands and feet, and, occasionally, progressing to involve limbs, neck, forehead and/or trunk. Interrupted dermatoglyphics and palmoplantar pits may be additionally observed. Histologically, hyperpigmented lesions show slightly elongated and thinned rete ridges, mild hyperkeratosis without parakeratosis and absence of incontinentia pigmenti.|ORDO|N|
C0406814|Increased focal pigmentation of the vermilion of the lips.|HPO|N|
C0406815|A benign skin tumor characterized as a small, dome-shaped dermal nodule composed of fibroblasts in a dense collagenous background with storiform organization. Rarely, multiple lesions can occur in connection with Cowden''s disease.|NCI|N|
C0406816|An acquired form of collagenoma that appears in childhood. It is characterized by discrete, firm, skin-colored, and slightly elevated cutaneous papules, nodules or plaques that may be generalized, or found on the trunk and the extremities.|NCI|N|
C0406817|Familial cutaneous collagenoma is a connective tissue nevus characterized by multiple, flesh-colored asymptomatic nodules distributed symmetrically on the trunk and upper arms (mainly on the upper two-thirds of the back), manifesting around adolescence. The skin biopsy reveals an accumulation of collagen fibers with reduction in the number of elastic fibers. Cardiac anomalies may be observed. Familial cutaneous collagenoma follows an autosomal dominant mode of transmission.|ORDO|N|
C0406819|Congenital smooth muscle hamartoma (CSMH) is a rare cutaneous hamartomatous lesion most often located on the lumbosacral area or proximal limbs (but rarely on atypical areas such as scalp, eyelid or foot) and characterized by a disorganized proliferation of smooth muscle fibres of arrector pili presenting usually as a localized skin-colored or hyperpigmented plaque (up to 10 cm in diameter) with prominent vellus hairs (most common classic form) or less commonly by multiple skin-colored papules that can coalesce to form irregularly shaped plaques. With time, hyperpigmentation and vellus hairs usually diminish and neither malignant transformation nor associated systemic involvement has been reported.|ORDO|N|
C0406834|The material exuded from a wound, either surgical or traumatic.|NCI|N|
C0409331|A type of shoulder contracture characterized by decreased internal rotation of shoulder, that is, by a chronic reduction in active and passive ability to internally rotate the humerus at the shoulder joint (if the arm is flexed at the elbow, Internal rotation of the shoulder rotates the forearm towards the center of the body).|HPO|N|
C0409333|A type of shoulder contracture characterized by a chronic reduction in the active and passive ability to abduct the shoulder. This results in the shoulders being closer to midline. The affected individual is not able to position the shoulders away from the body.|HPO|N|
C0409335|Lack of the full expected passive range of flexion of the shoulder joint (Shoulder flexion puts the arms from a resting position at one's sides to straight above the head; thus, with shoulder extension contracture it is not possible to raise the arms above the head fully).|HPO|N|
C0409336|Chronic reduction in active and passive mobility of the shoulder joint due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement.|HPO|N|
C0409337|An elbow contracture that limits the ability of the elbow joint to flex (flexion of the the elbow joint refers to bending the elbow joint to bring the hand closer to the shoulder), meaning that the elbow is fixed in an extended (straight) position.|HPO|N|
C0409338|An elbow contracture that limits the ability of the elbow joint to be extended (straightened), meaning that the elbow is fixed in an flexed (bent) position.|HPO|N|
C0409340|A contracture that limits the ability of the forearm to stabilize the hand in pronation (pronation refers to a rotation of the forearm that causes the palm and forearm to face downwards), meaning that the palm is fixed in a upward orientation. Restriction of supination/pronation can occur at the elbow (radial-humeral joint), at the wrist (radial-ulnar joint), and anywhere in between.|HPO|N|
C0409341|A contracture that limits the ability of the forearm to stabilize the hand in supiation (supination refers to a rotation of the forearm that causes the palm and forearm to face upwards), meaning that the palm is fixed in a downward orientation. Restriction of supination/pronation can occur at the elbow (radial-humeral joint), at the wrist (radial-ulnar joint), and anywhere in between.|HPO|N|
C0409345|A chronic loss of wrist joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevent normal movement of the joints of the wrist.|HPO|N|
C0409346|Lack of full passive range of motion (restrictions in flexion, extension, or other movements) of the thumb joint resulting from structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules and/or skin. The term camptodactyly is used if the distal and/or proximal interphalangeal joints are affected.|HPO|N|
C0409348|The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers cannot be extended to 180 degrees by either active or passive extension.|HPO|N|
C0409354|Lack of full passive range of motion (restrictions in flexion, extension, or other movements) of the hip joint resulting from structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules and/or skin.|HPO|N|
C0409355|A type of knee joint contracture in which the knee is in a fixed bent (flexed) configuration such that it cannot be straightened actively or passively.|HPO|N|
C0409361|Lack of full passive range of motion (restrictions in flexion, extension, or other movements) of a toe joint resulting from structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules and/or skin.|HPO|N|
C0409412|Patellar dislocation occurring repeated times.|HPO|N|
C0409415|Shoulder dislocation occurring repeated times.|HPO|N|
C0409495|Intrapelvic bulging of the medial acetabular wall.|HPO|N|
C0409651|Rheumatoid arthritis in which a patient''s serum is positive for certain disease-related antibodies including anti-cyclic citrullinated peptides (anti-CCPs), also called anti-citrullinated protein antibodies (ACPAs),and rheumatoid factor (RF). Screening for anti-CCPs is more specific than RF which can be found in other pathologic conditions. The production of these disease-associated antibodies may precede the development of clinical symptoms by several years. Seropositive patients have a greater likelihood of developing extra-articular complications and a more severe course of disease.|NCI|N|
C0409667|A group of conditions used to describe polyarthritis occurring in children.|NCI|N|
C0409676|A group of chronic, inflammatory childhood diseases characterized by arthritis and enthesitis. This disorder can affect the axial skeleton in late childhood or young adulthood.|NCI|N|
C0409818|Chronic infantile neurologic cutaneous and articular syndrome (CINCA) is an early-onset, severe, chronic inflammatory disease, characterized by cutaneous symptoms, central nervous system involvement, and arthropathy (Feldmann et al., 2002).
See also familial cold autoinflammatory syndrome-1 (FCAS1, CAPS1; 120100), an allelic disorder with a less severe phenotype.|OMIM|N|
C0409860|Rapidly destructive shoulder joint and bone disease found mainly in elderly, and predominantly in women. It is characterized by SHOULDER PAIN; JOINT INSTABILITY; and the presence of crystalline CALCIUM PHOSPHATES in the SYNOVIAL FLUID. It is associated with ROTATOR CUFF INJURIES.|MSH|N|
C0409929|Osteoarthritis of the foot generally affects the joint at the base of your big toe. It can cause your toe to: - become stiff over time, which can make it difficult and painful to walk – this is called hallux rigidus - become bent, which can lead to painful bunions (bony lumps at the base of your big toe) – this is called hallux valgus. Osteoarthritis of the mid-foot is also quite common, especially in older people, and may cause an obvious bony swelling (osteophyte) on the top of your mid-foot. Ankle osteoarthritis is least common and may cause your heel to move to an unusual angle.|MONDO|N|
C0409957|In the hand, osteoarthritis can develop in the distal interphalangeal and the first carpometacarpal (base of thumb) and proximal interphalangeal joints (Stefansson et al., 2003). Patients with osteoarthritis may have one, a few, or all of these sites affected. Heberden nodes are bony excrescences of the phalanges of the distal interphalangeal joints of the fingers (Stecher, 1955). They can be considered a variety of osteoarthrosis, or degenerative arthritis.
For a phenotypic description and a discussion of genetic heterogeneity of osteoarthritis, see OS1 (165720).|OMIM|N|
C0409959|Noninflammatory degenerative disease of the knee joint consisting of three large categories: conditions that block normal synchronous movement, conditions that produce abnormal pathways of motion, and conditions that cause stress concentration resulting in changes to articular cartilage. (Crenshaw, Campbell's Operative Orthopaedics, 8th ed, p2019)|MONDO|N|
C0409974|An autoimmune, connective tissue chronic inflammatory disorder affecting the skin, joints, kidneys, lungs, heart, and the peripheral blood cells. It is more commonly seen in women than men. Variants include discoid and systemic lupus erythematosus.|NCI|N|
C0409977|A manifestation of systemic lupus erythematosus with a widespread vesiculobullous eruption.|NCI|N|
C0409979|A rare systemic autoimmune disease characterized by cutaneous lesions, hepatic dysfunction, hematological abnormalities, and/or cardiac arrhythmia, and caused by transplacental passage of maternal SS-A and SS-B autoantibodies. The most typical cutaneous manifestation is a macular annular erythema affecting the head, but also trunk and extremities. Other reversible features include anemia, neutropenia, thrombocytopenia, and elevation of liver parameters with hepatomegaly. The most severe presentation of the disease is irreversible congenital total atrioventricular block.|ORDO|N|
C0409980|An antiphospholipid syndrome that occurs as an isolated disorder.|MONDO|N|
C0409983|An antiphospholipid syndrome that occurs alongside another autoimmune disorder.|MONDO|N|
C0409988|A rare idiopathic inflammatory myopathy characterized by a localized swelling of skeletal muscle that is usually located in the lower extremities.|ORDO|N|
C0409999|A rare systemic autoimmune disease characterized by the presence of signs and symptoms suggestive of a systemic autoimmune disease that do not fulfil the existing classification criteria. The main clinical manifestations are arthritis with arthralgia, Raynaud's phenomenon, xerostomia, xerophthalmia, and leukopenia, while neurologic or renal involvement are virtually absent.|ORDO|N|
C0410000|An autoimmune, connective tissue disorder in which the patient exhibits features from two or more diseases. These typically include systemic sclerosis, dermatomyositis, polymyositis, rheumatoid arthritis, systemic lupus erythematosus, and Sjogren syndrome; in pediatrics the respective pediatric entities are encountered.|NCI|N|
C0410005|A rare soft tissue tumor characterized by a solitary mass-forming fibrous proliferation that usually occurs in the subcutaneous tissue, composed of uniform fibroblastic/myofibroblastic cells displaying a loose growth pattern. Upper extremities, trunk, and head and neck are most frequently affected. The lesion typically grows rapidly and almost always measures less than five centimeters in diameter. Macroscopically, it may appear circumscribed or infiltrative but is not encapsulated. Recurrence after excision is very rare, and metastasis does not occur.|ORDO|N|
C0410060|Pediatric trigger thumb is caused by a mismatch between the flexor pollicis longus tendon and its sheath. Patients present with a hard, palpable nodule (Notta's node) at the base of the metacarpal and an inability to extend the thumb beyond 30 degrees, which can rarely be accompanied by triggering, snapping, or a digit locked in extension (summary by Wang et al., 2012).|OMIM|N|
C0410173|A subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a childhood onset of progressive shoulder and pelvic girdle muscle weakness and atrophy frequently associated with calf hypertrophy, diaphragmatic weakness, and/or variable cardiac abnormalities. Mild to moderate elevated serum creatine kinase levels and positive Gowers sign are reported.|ORDO|N|
C0410174|Fukuyama congenital muscular dystrophy (FCMD) is characterized by hypotonia, symmetric generalized muscle weakness, and CNS migration disturbances that result in changes consistent with cobblestone lissencephaly with cerebral and cerebellar cortical dysplasia. Mild, typical, and severe phenotypes are recognized. Onset typically occurs in early infancy with poor suck, weak cry, and floppiness. Affected individuals have contractures of the hips, knees, and interphalangeal joints. Later features include myopathic facial appearance, pseudohypertrophy of the calves and forearms, motor and speech delays, intellectual disability, seizures, ophthalmologic abnormalities including visual impairment and retinal dysplasia, and progressive cardiac involvement after age ten years. Swallowing disturbance occurs in individuals with severe FCMD and in individuals older than age ten years, leading to recurrent aspiration pneumonia and death.|GeneReviews|N|
C0410179|Collagen VI-related dystrophies (COL6-RDs) represent a continuum of overlapping clinical phenotypes with Bethlem muscular dystrophy at the milder end, Ullrich congenital muscular dystrophy (UCMD) at the more severe end, and a phenotype in between UCMD and Bethlem muscular dystrophy, referred to as intermediate COL6-RD. Bethlem muscular dystrophy is characterized by a combination of proximal muscle weakness and joint contractures. Hypotonia and delayed motor milestones occur in early childhood; mild hypotonia and weakness may be present congenitally. By adulthood, there is evidence of proximal weakness and contractures of the elbows, Achilles tendons, and long finger flexors. The progression of weakness is slow, and more than two thirds of affected individuals older than age 50 years remain independently ambulatory indoors, while relying on supportive means for mobility outdoors. Respiratory involvement is not a consistent feature. UCMD is characterized by congenital weakness, hypotonia, proximal joint contractures, and striking hyperlaxity of distal joints. Decreased fetal movements are frequently reported. Some affected children acquire the ability to walk independently; however, progression of the disease results in a loss of ambulation by age ten to eleven years. Early and severe respiratory insufficiency occurs in all individuals, resulting in the need for nocturnal noninvasive ventilation (NIV) in the form of bilevel positive airway pressure (BiPAP) by age 11 years. Intermediate COL6-RD is characterized by independent ambulation past age 11 years and respiratory insufficiency that is later in onset than in UCMD and results in the need for NIV in the form of BiPAP by the late teens to early 20s. In contrast to individuals with Bethlem muscular dystrophy, those with intermediate COL6-RD typically do not achieve the ability to run, jump, or climb stairs without use of a railing.|GeneReviews|N|
C0410180|Rigid spine muscular dystrophy (RSMD) is a form of congenital muscular dystrophy. Disorders in this group cause muscle weakness and wasting (atrophy) beginning very early in life. In particular, RSMD involves weakness of the muscles of the torso and neck (axial muscles). Other characteristic features include spine stiffness and serious breathing problems.\n\nIn RSMD, muscle weakness is often apparent at birth or within the first few months of life. Affected infants can have poor head control and weak muscle tone (hypotonia), which may delay the development of motor skills such as crawling or walking. Over time, muscles surrounding the spine atrophy, and the joints of the spine develop deformities called contractures that restrict movement. The neck and back become stiff and rigid, and affected children have limited ability to move their heads up and down or side to side. Affected children eventually develop an abnormal curvature of the spine (scoliosis). In some people with RSMD, muscles in the inner thighs also atrophy, although it does not impair the ability to walk.\n\nA characteristic feature of RSMD is breathing difficulty (respiratory insufficiency) due to restricted movement of the torso and weakness of the diaphragm, which is the muscle that separates the abdomen from the chest cavity. The breathing problems, which tend to occur only at night, can be life-threatening. Many affected individuals require a machine to help them breathe (mechanical ventilation) during sleep.\n\nThe combination of features characteristic of RSMD, particularly axial muscle weakness, spine rigidity, and respiratory insufficiency, is sometimes referred to as rigid spine syndrome. While these features occur on their own in RSMD, they can also occur along with additional signs and symptoms in other muscle disorders. The features of rigid spine syndrome typically appear at a younger age in people with RSMD than in those with other muscle disorders.|MedlinePlus Genetics|N|
C0410189|Emery-Dreifuss muscular dystrophy (EDMD) is characterized by the clinical triad of: joint contractures that begin in early childhood; slowly progressive muscle weakness and wasting initially in a humero-peroneal distribution that later extends to the scapular and pelvic girdle muscles; and cardiac involvement that may manifest as palpitations, presyncope and syncope, poor exercise tolerance, and congestive heart failure along with variable cardiac rhythm disturbances. Age of onset, severity, and progression of muscle and cardiac involvement demonstrate both inter- and intrafamilial variability. Clinical variability ranges from early onset with severe presentation in childhood to late onset with slow progression in adulthood. In general, joint contractures appear during the first two decades, followed by muscle weakness and wasting. Cardiac involvement usually occurs after the second decade and respiratory function may be impaired in some individuals.|GeneReviews|N|
C0410190|Emery-Dreifuss muscular dystrophy (EDMD) is characterized by the clinical triad of: joint contractures that begin in early childhood; slowly progressive muscle weakness and wasting initially in a humero-peroneal distribution that later extends to the scapular and pelvic girdle muscles; and cardiac involvement that may manifest as palpitations, presyncope and syncope, poor exercise tolerance, and congestive heart failure along with variable cardiac rhythm disturbances. Age of onset, severity, and progression of muscle and cardiac involvement demonstrate both inter- and intrafamilial variability. Clinical variability ranges from early onset with severe presentation in childhood to late onset with slow progression in adulthood. In general, joint contractures appear during the first two decades, followed by muscle weakness and wasting. Cardiac involvement usually occurs after the second decade and respiratory function may be impaired in some individuals.|GeneReviews|N|
C0410203|X-linked myotubular myopathy (X-MTM), also known as myotubular myopathy (MTM), is characterized by muscle weakness that ranges from severe to mild. Approximately 80% of affected males present with severe (classic) X-MTM characterized by polyhydramnios, decreased fetal movement, and neonatal weakness, hypotonia, and respiratory failure. Motor milestones are significantly delayed and most individuals fail to achieve independent ambulation. Weakness is profound and often involves facial and extraocular muscles. Respiratory failure is nearly uniform, with most individuals requiring 24-hour ventilatory assistance. It is estimated that at least 25% of boys with severe X-MTM die in the first year of life, and those who survive rarely live into adulthood. Males with mild or moderate X-MTM (~20%) achieve motor milestones more quickly than males with the severe form; many ambulate independently, and may live into adulthood. Most require gastrostomy tubes and/or ventilator support. In all subtypes of X-MTM, the muscle disease is not obviously progressive. Female carriers of X-MTM are generally asymptomatic, although manifesting heterozygotes are increasingly being identified. In affected females, symptoms range from severe, generalized weakness presenting in childhood, with infantile onset similar to affected male patients, to mild (often asymmetric) weakness manifesting in adulthood. Affected adult females may experience progressive respiratory decline and ultimately require ventilatory support.|GeneReviews|N|
C0410204|Any centronuclear myopathy in which the cause of the disease is a mutation in the BIN1 gene.|MONDO|N|
C0410207|A rare congenital myopathy characterized ultrastructurally by the presence of tubular aggregates in the subsarcolemmal region of the muscle fiber. It most commonly presents with slowly progressive proximal muscle weakness predominantly of the lower limbs, periodic paralysis, post-exertion muscle cramps, and muscular pain. Ocular anomalies like ophthalmoplegia or pupillary abnormalities may be associated. The intensity of the symptoms is variable, cases with normal muscle strength but myalgia or fatigue, as well as clinically asymptomatic cases have been described.|ORDO|N|
C0410226|Myotonic dystrophy that is present at birth.|NCI|N|
C0410251|A rare acquired skeletal muscle disease characterized by inflammation of a muscle due to infection with a fungus, usually occurring in an immunocompromised host. General symptoms are pain, tenderness, swelling, and/or weakness in the affected muscle. Most common causative agent are <i>Candida</i> species, with myositis developing in the setting of systemic candidiasis, typically as diffuse, multiple microabscesses. Other fungal pathogens potentially causing myositis are <i>Cryptococcus neoformans</i>, <i>Histoplasma capsulatum</i>, <i>Coccidioides</i> species, or <i>Aspergillus</i> species, among others.|ORDO|N|
C0410264|A contracture of the Achilles tendon.|HPO|N|
C0410422|Chronic recurrent multifocal osteomyelitis-3 (CRMO3) is an autosomal dominant autoinflammatory bone disease characterized by early childhood onset of bone pain and arthritis caused by sterile osteomyelitis. The disorder results from constitutive activation of the IL1-mediated inflammatory pathway due to loss of IL1 receptor sensitivity to its antagonist IL1RN (147679). et al. (2023) suggested the term 'Loss of IL1R1 Sensitivity to IL1RA (IL1RN)' or 'LIRSA' as a designation for this disorder.
For a discussion of genetic heterogeneity of CRMO, see 609628.|OMIM|N|
C0410480|Necrotic changes in the bone tissue of the femoral head due to interruption of blood supply.|NCI|N|
C0410528|A general term describing features characterized by abnormal development of bones and connective tissues.|HPO|N|
C0410529|Hypochondroplasia is a skeletal dysplasia characterized by short stature; stocky build; disproportionately short arms and legs; broad, short hands and feet; mild joint laxity; and macrocephaly. Radiologic features include shortening of long bones with mild metaphyseal flare; narrowing of the inferior lumbar interpedicular distances; short, broad femoral neck; and squared, shortened ilia. The skeletal features are very similar to those seen in achondroplasia but tend to be milder. Medical complications common to achondroplasia (e.g., spinal stenosis, tibial bowing, obstructive apnea) occur less frequently in hypochondroplasia but intellectual disability and epilepsy may be more prevalent. Children usually present as toddlers or at early school age with decreased growth velocity leading to short stature and limb disproportion. Other features also become more prominent over time.|GeneReviews|N|
C0410530|Metachondromatosis is characterized by exostoses (osteochondromas), commonly of the hands and feet, and enchondromas of long bone metaphyses and iliac crests (summary by Sobreira et al., 2010).|OMIM|N|
C0410536|Mesomelic dysplasia is shortening of the middle or intermediate portion of the limb. In the upper limb this is relative shortening of the radius and ulna, in the lower limb the tibia and fibula.|SNOMEDCT_US|N|
C0410538|Pseudoachondroplasia is characterized by normal length at birth and normal facies. Often the presenting feature is a waddling gait, recognized at the onset of walking. Typically, the growth rate falls below the standard growth curve by approximately age two years, leading to a moderately severe form of disproportionate short-limb short stature. Joint pain during childhood, particularly in the large joints of the lower extremities, is common. Degenerative joint disease is progressive; approximately 50% of individuals with pseudoachondroplasia eventually require hip replacement surgery.|GeneReviews|N|
C0410539|Craniodiaphyseal dysplasia is a rare sclerotic bone disorder with a variable phenotypic expression with massive generalized hyperostosis and sclerosis, particularly of the skull and facial bones, that may lead to severe deformity.|ORDO|N|
C0410574|Synovial hyperplasia involves proliferation of mesenchymal stromal/stem cells and leads to synovial thickening, which can be observed radiographically.|HPO|N|
C0410606|Any degenerative disorder affecting one or more vertebral discs of the cervical spine.|NCI|N|
C0410607|The presence of abnormal calcium deposition of the intervertebral disk.|HPO|N|
C0410632|A Schmorl's node is the herniation of nucleus pulposus through the cartilaginous and bony end plate into the body of the adjacent vertebra.|HPO|N|
C0410652|An abnormal lack of stability of the cervical spine.|HPO|N|
C0410653|Abnormally increased movement at the junction between the first cervical (atlas) and the second cervical (axis) vertebrae as a result of either a bony or ligamentous anomaly.|HPO|N|
C0410702|A scoliosis with no known cause arising in adolescent.|MONDO|N|
C0410787|An inherited genetic disorder that affects the connective tissues. Representative examples include Ehlers-Danlos syndrome and Marfan syndrome.|NCI|N|
C0410916|Death within the first 28 days of life.|HPO|N|
C0410918|The number of beats per minute (bpm) of the fetal heart is above the upper limit of the normal for the gestational age. Fetal tachycardia is thus defined as a heart rate greater than 160-180 bpm.|HPO|N|
C0410919|A fetal heart rate below 110 bpm that is sustained for longer than 10 minutes.|NCI|N|
C0410935|An abnormally increased width of the cranial sutures for age-related norms (generally resulting from delayed closure).|HPO|N|
C0410959|An abnormally high hydrogen ion concentration (umbilical arterial blood pH less than 7.00) in fetal blood or tissue.|NCI|N|
C0413235|A rare form of anaphylaxis for which triggers cannot be identified despite a detailed history and careful diagnostic assessment.|HPO|N|
C0418625|A particular drug is unavailable.|NCI|N|
C0420246|An indication that the patient has not taken medication.|NCI|N|
C0421434|The patient has relocated.|NCI|N|
C0421611|Definition: Relates a place (playing Entity) as the location where a living subject (scoping Entity) died.CHAR(13)|HL7V3.0|N|
C0422807|A measurement of the total number of pregnancy events experienced by the female subject prior to the current pregnancy.|NCI|N|
C0422809|A measurement of the total number of fetuses, which includes alive and dead fetuses, present in the uterus.|NCI|N|
C0422837|Symptoms, physical examination results, and/or laboratory test results related to the nervous system.|NCI|N|
C0422846|A type of focal motor seizure characterized by sustained, forced conjugate ocular, cephalic, and/or truncal rotation or lateral deviation from the midline as the initial semiological manifestation.|HPO|N|
C0422850|A seizure characterized by sensory phenomena including tingling, numbness, electric-shock like sensation, pain, sense of movement, or desire to move as its first clinical manifestation.|HPO|N|
C0422853|An epileptic seizure originating within networks limited to one hemisphere, initially manifesting as odour sensations, usually disagreeable, not caused by appropriate stimuli in the external world, regardless of whether aware or with impaired awareness.|SNOMEDCT_US|N|
C0422858|An epileptic seizure originating within networks limited to one hemisphere, initially manifesting as impaired communication involving language without dysfunction of relevant primary motor or sensory pathways, manifested as impaired comprehension, anomia, paraphasic errors, or a combination of these, regardless of whether aware or with impaired awareness.|SNOMEDCT_US|N|
C0422861|Seizures presenting with an emotion or the appearance of having an emotion as an early prominent feature, such as fear, spontaneous joy or euphoria, laughing (gelastic), or crying, (dacrystic). These emotional seizures may occur with or without objective clinical signs of a seizure evident to the observer.|HPO|N|
C0422883|The functional superiority and preferential use of one eye over the other. The term is usually applied to superiority in sighting (VISUAL PERCEPTION) or motor task but not difference in VISUAL ACUITY or dysfunction of one of the eyes. Ocular dominance can be modified by visual input and NEUROTROPHIC FACTORS.|MSH|N|
C0422885|A condition in which a person experiences a given stimulus, usually tactile but more rarely other sensory modalities, on the corresponding opposite side of the body from the side of the stimulation.|MSH|N|
C0422903|An involuntary, primal response in the neonate in which a finger is run down one side of the spine and the neonate laterally flexes toward that side.|NCI|N|
C0422980|A visual disturbance in which objects in the visual field appear to oscillate (jump, jiggle, vibrate).|HPO|N|
C0422985|Perception of two images secondary to misalignment of the eyes.|NCI|N|
C0423006|Liquid exudate from the eye.|NCI|N|
C0423082|Saccadic undershoot, i.e., a saccadic eye movement that has less than the magnitude that would be required to gain fixation of the object.|HPO|N|
C0423083|A saccade that overshoots the target with the dynamic saccade.|HPO|N|
C0423109|The palpebral fissure inclination is more than two standard deviations above the mean for age (objective); or, the inclination of the palpebral fissure is greater than typical for age.|HPO|N|
C0423110|The palpebral fissure inclination is more than two standard deviations below the mean.|HPO|N|
C0423112|Distance between the medial and lateral canthi is more than 2 SD below the mean for age (objective); or, apparently reduced length of the palpebral fissures.|HPO|N|
C0423113|Distance between the inner canthi more than two standard deviations above the mean (objective); or, apparently increased distance between the inner canthi.|HPO|N|
C0423122|Drooping of the upper eyebrow below the superior orbital rim.|HPO|N|
C0423124|Loss of elasticity of the upper and lower eyelids causing the skin to sag and bulge.|HPO|N|
C0423128|An ophthalmologic sign in young children resulting from upward-gaze paresis. In this condition, the eyes appear driven downward, the sclera may be seen between the upper eyelid and the iris, and part of the lower pupil may be covered by the lower eyelid.|HPO|N|
C0423153|Tearing; excessive shedding of tears.|NCI|N|
C0423172|Inflammation and infection of the lacrimal canaliculus area in the LACRIMAL APPARATUS.|MSH|N|
C0423224|An eye that is more deeply recessed into the plane of the face than is typical.|HPO|N|
C0423250|Reduced transparency of the stroma of cornea.|HPO|N|
C0423260|Reduced transparency of the central posterior portion of the corneal stroma.|HPO|N|
C0423262|A rare corneal disorder characterized by inflammation of the corneal endothelium with corneal edema, keratic precipitates, mild to moderate anterior chamber reaction, and subsequent visual disturbances. It is often associated with increased intraocular pressure. Based on the distribution of the lesions, a linear, sectorial, disciform, and diffuse form can be distinguished.|ORDO|N|
C0423276|Reduced depth of the anterior chamber, i.e., the anteroposterior distance between the cornea and the iris is decreased.|HPO|N|
C0423280|Increased depth of the anterior chamber, i.e., the anteroposterior distance between the cornea and the iris is increased.|HPO|N|
C0423281|An abnormal appearance of the beam of light traveling through the anterior chamber of the eye in a slit lamp examination. The flare is produced by an increased concentration of proteins in the aqueous humor in the anterior chamber.|HPO|N|
C0423282|Tiny deposits corresponding to cells floating in the anterior chamber of the eye. This appearance is typically associated with intraocular inflammation leading to breakdown of the blood-aqueous barrier and resulting in an increase in the number of cells and in the aqueous humor. Grading (SUN Working Group) is performed by estimating the number of cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp.|HPO|N|
C0423301|A finding indicating the quick and brisk constriction of the pupils in response to light.|NCI|N|
C0423318|Heterochromia iridis is a difference in the color of the iris in the two eyes.|HPO|N|
C0423319|Loss of iris tissue (atrophy)|HPO|N|
C0423320|Tremulousness of the iris on movement of the eye, occurring in subluxation of the lens.|HPO|N|
C0423325|Presence of iris pigment epithelium on the anterior surface of the iris.|HPO|N|
C0423361|Separation of the vitreous humor from the retina.|HPO|N|
C0423401|Familial retinal arterial tortuosity is characterized by marked tortuosity of second- and third-order retinal arteries with normal first-order arteries and venous system. Two-thirds of patients experience variable degrees of symptomatic transient vision loss due to retinal hemorrhage following minor stress or trauma (summary by Nischler et al., 2011).|OMIM|N|
C0423402|Acquired focal dilatations of branches of the retinal artery, usually second-order retinal arterioles, that range in size from 100 to 200 micrometers in diameter. Macroaneurysms are generally located at the termporal retina and may be hemorrhagic or exudative.|HPO|N|
C0423414|Presence of multiple yellowish-white lesions of various size and configuration on the retina not related to vascular lesions.|HPO|N|
C0423420|Lack of the foveal reflex, which normally occurs as a result of the reflection of light from the ophthalmoscope in the foveal pit upon examination. The foveal reflex is a bright pinpoint of light that is observed to move sideways or up and down in response to movement of the opthalmoscope.|HPO|N|
C0423421|Well-demarcated area(s) of partial or complete depigmentation in the macula, reflecting atrophy of the retinal pigment epithelium with associated retinal photoreceptor loss.|HPO|N|
C0423428|Scar tissue in the macula.|HPO|N|
C0423431|A type of retinal exudate located in the subretinal space between the sensory retina and the retinal pigment epithelium.|HPO|N|
C0423471|The ratio of the diameter of the optic cup compared to the diameter of the optic disc.|NCI|N|
C0423477|Symptoms, physical examination results, and/or laboratory test results related to the ear.|NCI|N|
C0423576|Sensation of itching or other similar sensations in the ear.|ICF-CY|N|
C0423581|A question about whether an individual has or had numbness.|NCI|N|
C0423693|Episodic childhood musculoskeletal pain, usually brief (a few minutes), intense, nocturnal, involving both legs, with no identifiable cause or sequelae.|SNOMEDCT_US|N|
C0423701|Painful sensation in any part of the urinary tract.|NCI|N|
C0423704|A nervous system disorder that has pain as a major feature.|MONDO|N|
C0423738|Recurrent episodes of pain localized to the anus or lower rectum which lasts seconds to minutes. There is no pain between episodes.|NCI|N|
C0423757|Reduction in thickness of the skin, generally associated with a loss of suppleness and elasticity of the skin.|HPO|N|
C0423772|An abnormal communication between the skin and another organ or cavity.|NCI|N|
C0423781|Violaceous papules overlying the dorsal and lateral aspects of the metacarpophalangeal and proximal interphalangeal joints.|HPO|N|
C0423791|A skin rash that is characterized by diffuse cutaneous erythema with areas of skin elevation. It may evolve to vesicles or papules as part of a more severe clinical entity. Different degrees of angioedema with involvement of subcutaneous tissue may also appear.|HPO|N|
C0423798|An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma.|HPO|N|
C0423807|When viewed on end (with the digit tip pointing toward the examiner's eye) the curve of the nail forms a tighter curve of convexity.|HPO|N|
C0423808|Decreased length of nail.|HPO|N|
C0423820|Longitudinal, linear prominences in the nail plate.|HPO|N|
C0423823|Nail that appears thin when viewed on end.|HPO|N|
C0423848|Double rows of eyelashes.|HPO|N|
C0423867|Hair that is fine or thin to the touch.|HPO|N|
C0423908|A feeling of doubt concerning two or more possible alternatives or courses of action.|NCI|N|
C0424000|Frequent thoughts about or preoccupation with killing oneself.|HPO|N|
C0424021|Delusions are characterized by increased conviction and pervasiveness, permeating the individual's entire experience to a greater extent.|HPO|N|
C0424024|A true perception, to which a patient attributes a false meaning, ranges from experiencing some vague meaning to clear, delusional observations, and expresses delusions of reference.|HPO|N|
C0424082|Brief hallucinations that occur as you wake up in the morning, in a state that falls somewhere between dreaming and being fully awake.|HPO|N|
C0424109|A feeling of sadness characterized by episodes of crying that can occur suddenly and are not easily controlled in social situations.|HPO|N|
C0424131|The level of happiness or contentment that an individual professes, or is observed to display with regards to their life situation.|NCI|N|
C0424166|Emotion characterized by feelings of tension, worried thoughts, and inadequacy in a social setting.|MSH|N|
C0424169|Anxiety or fear associated with actual or anticipated oral communication with others.|PSY|N|
C0424290|Excessive or pathological tendency to save and collect possessions.|HPO|N|
C0424295|Hyperactivity is a condition characterized by constant and unusually high levels of activity, even in situations where it is deemed inappropriate.|HPO|N|
C0424296|A tendency to violate social norms because of a failure to resist temptations or urges in social settings.|HPO|N|
C0424304|Laughing that may be excessive and/or inappropriate in context (e.g., laughing at a funeral while others are crying).|HPO|N|
C0424318|Aggressive behavior by a more powerful party that results in physical harm to or emotional distress of the victim.|MSH|N|
C0424323|Conduct and/or behavior, both verbal and non-verbal, including but not limited to verbal and/or physical aggression, attacks, threats, harassment, intimidation, and other disruptive behaviors in any form or through any medium, that cause or have the potential to cause a reasonable person to fear physical harm from any individual(s) or group(s) towards any person(s) or property. This is commonly defined as a violent act characterized by the use of physical force, anger, or sudden intense activity.|HPO|N|
C0424359|Neglecting one's own needs and well-being.|HPO|N|
C0424366|Self-inflicted harm without the intent to die.|NCI|N|
C0424375|Habitual biting of one's own body.|HPO|N|
C0424448|A lack of facial expression often with staring eyes and a slightly open mouth.|HPO|N|
C0424469|An observation of clothing which may be inspected separately or remain clad on the patient at the time of the examination.|SNOMEDCT_US|N|
C0424489|Cracking, fissuring, and peeling of the skin of the lips.|HPO|N|
C0424496|A finding that refers to a person with erythematous face.|NCI|N|
C0424503|An abnormal morphology (form) of the face or its components.|HPO|N|
C0424522|Score of 0: Sleeping/Awake--Quiet, peaceful, sleeping or alert and settles|LNC|N|
C0424532|A level of awareness that can be described as varied and intermittent periods of consciousness and unconsciousness.|NCI|N|
C0424536|Condition of heightened watchfulness or preparation for action.|NCI|N|
C0424551|A functional motor deficit where individuals whose responses to the challenges of exercise fail to achieve levels considered normal for their age and gender.|HPO|N|
C0424561|Abnormally heavy or prolonged loss of blood.|NCI|N|
C0424563|Satisfaction with the sleep experience, integrating aspects of sleep initiation, sleep maintenance, sleep quantity, and refreshment upon awakening.|MSH|N|
C0424578|Condition of existence, or state of awareness, in which psychological needs are satisfied|MSH|N|
C0424594|A clinically recognizable state of increased vulnerability resulting from a decline in reserve and function across multiple physiologic systems such that the ability to cope with everyday or acute stressors is compromised.|HPO|N|
C0424605|Failure to meet, or late achievement of developmental milestones.|NCI|N|
C0424621|Deposits of ADIPOSE TISSUE throughout the body. The pattern of fat deposits in the body regions is an indicator of health status. Excess ABDOMINAL FAT increases health risks more than excess fat around the hips or thighs, therefore, WAIST-HIP RATIO is often used to determine health risks.|MSH|N|
C0424624|Skin lumpiness or skin surface dimpling often seen on the thighs, buttocks and abdomen. It is due to protrusion of SUBCUTANEOUS FAT into the DERMIS layer of skin.|MSH|N|
C0424639|The height of a person while standing.|NCI|N|
C0424683|A circumferential measurement of the chest.|NCI|N|
C0424688|An abnormally reduced head circumference in a growing child. Head circumference is measured with a nonelastic tape and comprises the distance from above the eyebrows and ears and around the back of the head. The measured HC is then plotted on an appropriate growth chart. Microcephaly is defined as a head circumference (HC) that is great than two standard deviations below the mean of age- and gender-matched population based samples. Severe microcephaly is defined with an HC that is three standard deviations below the mean.|HPO|N|
C0424693|Increased width of the skull.|HPO|N|
C0424711|Interpupillary distance less than 2 SD below the mean (alternatively, the appearance of an decreased interpupillary distance or closely spaced eyes).|HPO|N|
C0424731|The distal and proximal transverse palmar creases are merged into a single transverse palmar crease.|HPO|N|
C0424790|Severe chills with violent shivering. A rigor is an episode of shaking or exaggerated shivering which can occur with a high fever.|HPO|N|
C0424839|The presence of a nodule (small rounded lump of tissue) in the iris.|HPO|N|
C0424840|A type of iris nodule consisting of inflammatory cell precipitates which lie at the pupillary margin.|HPO|N|
C0424919|Language communicated by means of words or sounds uttered through the mouth.|NCI|N|
C0424978|Susceptible to a failure of thermoregulation that may result in a core body temperature below the normal diurnal range, which may compromise health.|NANDA-I|N|
C0425043|The historical fact that a legal or consanguineous family member has died.|NCI|N|
C0425078|An indication that an individual is living in their home.|NCI|N|
C0425092|The earning of income directly from customers, clients, or other organizations rather than as a specified salary or wages from an employer.|NCI|N|
C0425105|Resumption of normal work routine following a hiatus or period of absence due to injury, disability, or other reasons.|MSH|N|
C0425152|In a formal agreement for marriage.|NCI|N|
C0425154|The ending of a social partnership.|NCI|N|
C0425205|An indication that an individual is living in a nursing home.|NCI|N|
C0425229|A condition where the number of occupants exceeds the capacity of a living space, resulting in adverse physical and/or mental health outcomes. Overcrowding is often measured by persons-per-room in a dwelling unit, but it can also be measure by total number of persons in a unit, regardless of unit size; the ratio of persons to floor space in square feet; and the person-to-size ratio adjusted for household composition, structure type, location, or lot size.|NCI|N|
C0425245|Ability to move purposefully in own environment independently with or without assistive device|NOC|N|
C0425293|A person who has never smoked at the time of the interview or has smoked less than 100 cigarettes in their life.|NCI|N|
C0425379|Individuals who do not necessarily identify with any particular race or others who do not wish to self select into a racial category(ies).|NCI|N|
C0425380|An indication that an individual has married, after already having been married at least once.|NCI|N|
C0425381|An indication that an individual has recently married.|NCI|N|
C0425382|Having been legally made a member of a family.|NCI|N|
C0425401|A history of daily food intake.|NCI|N|
C0425442|Symptoms, physical examination results, and/or laboratory test results related to the respiratory system.|NCI|N|
C0425470|A pulling inward of the soft tissues between the ribs upon inhalation. This is a sign of increased use of the chest muscles for breathing and is a manifestation of respiratory distress.|HPO|N|
C0425492|Uneven rhythm of breathing.|HPO|N|
C0425560|Symptoms, physical examination results, and/or laboratory test results related to the cardiovascular system.|NCI|N|
C0425574|Increased amplitude (strength) of the pulse.|HPO|N|
C0425577|A delay between the upstroke of the right radial pulse and a femoral pulse who presence indicates coarctation of the aorta.|NCI|N|
C0425591|The sensation of an isolated cardiac contraction occurring prior to the normal or regular rhythm. (ACC-AHA)|NCI|N|
C0425593|The fourth heart sound (S4) is a low-pitched sound that occurs just before the first heart sound (S1) when the atria contract to force blood into the left ventricle, that is, coincident with late diastolic filling of the ventricle due to atrial contraction.|HPO|N|
C0425594|An auscultated finding in which S3 and S4 fuse, during tachycardia or a prolonged PR interval or both. (ACC-AHA)|NCI|N|
C0425687|Bulging of the jugular vein secondary to increased pressure of the superior vena cava, causing it to be visualized at a level of the neck that is higher than normal.|NCI|N|
C0425770|The result of an examination of the breast that is performed by a health care provider to check for lumps or other changes.|NCI|N|
C0425772|Premature development of the breasts.|HPO|N|
C0425791|Swelling and dimpling of the surface of the skin, which is typically associated with carcinoma of the breast.|NCI|N|
C0425913|Aplasia of the uterus.|HPO|N|
C0425932|The date of the first day of the most recent menstrual cycle.|NCI|N|
C0425934|The length of time of the menses cycle, measured from the beginning of one menstrual period to the beginning of the next.|NCI|N|
C0425941|A description of how an individual''s menstrual cycle conforms to a consistent temporal pattern.|NCI|N|
C0425966|An approximate calculated date at which the conception event took place.|NCI|N|
C0425979|A woman with a parity of zero.|NCI|N|
C0426012|A measurement of the distance between the pubic symphysis and the top of the palpable uterus.|NCI|N|
C0426030|Any intrauterine symptom or result related to the fetus.|NCI|N|
C0426037|An observation of the fetal heart that may or may not be abnormal.|NCI|N|
C0426070|A position of the fetus during the labor and delivery process where the fetal chin is in close relation to its chest; other joints are also in a flexed position. This prepares the fetus to present the smallest diameter for passage through the maternal pelvis.|NCI|N|
C0426071|A position of the fetus during the labor and delivery process where the fetal back is straight, the head position is deflexed and upright on the spine.|NCI|N|
C0426072|A position of the fetus during the labor and delivery process where the head is extended back.|NCI|N|
C0426146|A kind of breech presentation in which one or both hips are extended and one or both of the fetus' feet are pointing down and entering the birth canal.|HPO|N|
C0426164|A fetal presentation during delivery in which the shoulder descends into the birth canal first.|NCI|N|
C0426178|A presentation of the fetal hand or arm before the fetal vertex.|NCI|N|
C0426180|A position adopted by the fetus during labor when its head moves down into the maternal pelvic cavity.|NCI|N|
C0426209|Amniotic fluid containing the earliest stools of a mammalian infant.|HPO|N|
C0426226|Clinical and laboratory findings about the placenta.|NCI|N|
C0426252|The total length of the umbilical cord as measured from all segments. A cord length less than 30 or 35 cm is considered ""short"" whereas one greater than 70 cm is ""long"".|NCI|N|
C0426253|Extent to which maternal well-being is within normal limits from delivery of placenta to completion of involution|NOC|N|
C0426320|Congenital absence of the scrotum.|HPO|N|
C0426390|A sudden and involuntary contraction of the bladder wall.|NCI|N|
C0426396|An abnormal dark color of the urine.|HPO|N|
C0426415|Distance between subnasale and pronasale more than two standard deviations above the mean, or alternatively, an apparently increased anterior protrusion of the nasal tip.|HPO|N|
C0426421|Interalar distance more than two standard deviations above the mean for age, i.e., an apparently increased width of the nasal base and alae.|HPO|N|
C0426422|Interalar distance more than 2 SD below the mean for age, or alternatively, an apparently decreased width of the nasal base and alae.|HPO|N|
C0426428|A splitting of the nasal tip. Visually assessable vertical indentation, cleft, or depression of the nasal tip.|HPO|N|
C0426429|Increase in width of the nasal tip.|HPO|N|
C0426430|Positioning of the nasal tip inferior to the nasal base.|HPO|N|
C0426433|Decrease in width of the nasal tip.|HPO|N|
C0426439|Slender, slit-like aperture of the nostril.|HPO|N|
C0426440|Increased aperture of the nostril.|HPO|N|
C0426489|A fissure in the gingiva (gums), i.e., the mucosal tissue that lies over the mandible and maxilla.|HPO|N|
C0426501|The presence of an abnormally short lingual frenulum.|HPO|N|
C0426552|A clinical term that indicates the presence of a white mucosal patch in the interarytenoid area. In most cases histologic examination reveals keratosis.|NCI|N|
C0426605|A question about whether an individual has or had difficulty swallowing liquids.|NCI|N|
C0426636|A sudden, irresistible need to have a bowel movement.|HPO|N|
C0426732|Prostate size that is outside the normal limits.|SNOMEDCT_US|N|
C0426747|Bleeding originating from the anal area.|NCI|N|
C0426779|Symptoms, physical examination results, and/or laboratory rest results related to the muscles and bones.|NCI|N|
C0426789|Reduced inferior to superior extent of the thorax.|HPO|N|
C0426790|Reduced width of the chest from side to side, associated with a reduced distance from the sternal notch to the tip of the shoulder.|HPO|N|
C0426799|Reduced length of the clavicles.|HPO|N|
C0426801|Increased width (cross-sectional diameter) of the clavicles.|HPO|N|
C0426805|An excessive upward convexity of the lateral clavicle.|HPO|N|
C0426808|Increased length of the clavicles.|HPO|N|
C0426816|A developmental anomaly with absence of one or more ribs.|HPO|N|
C0426817|Reduced rib length.|HPO|N|
C0426818|Ribs with a reduced diameter.|HPO|N|
C0426820|Increased thickness (diameter) of ribs.|HPO|N|
C0426827|Radiolucent focal defect of a rib shaft.|HPO|N|
C0426848|A cutaneous indentation resulting from tethering of the skin to underlying structures (bone) of the intergluteal cleft.|HPO|N|
C0426850|The presence of an asymmetrical gluteal crease, the horizontal crease formed by the inferior aspect of the buttocks and the posterior upper leg.|HPO|N|
C0426863|A bending or abnormal curvature affecting a long bone of the arm.|HPO|N|
C0426874|A hand in which the fingers are of nearly equal length and deflected at the first interphalangeal joint, so as to give a forklike shape consisting of separation of the first and second as well as the third and fourth digits.|HPO|N|
C0426886|The gradual reduction in girth of the finger from proximal to distal.|HPO|N|
C0426891|Increased thumb width without increased dorso-ventral dimension.|HPO|N|
C0426900|Twisted position of the tibia (shin bone) associated with pathological rotation of the leg.|HPO|N|
C0426901|Shortening of the legs related to developmental hypoplasia of the bones of the leg.|HPO|N|
C0426970|Spastic paralysis affecting all four limbs.|HPO|N|
C0427032|A sensation of tightness in the ankle joint when attempting to move it, especially after a period of inactivity.|HPO|N|
C0427055|Reduced strength of one or more muscles innervated by the facial nerve (the seventh cranial nerve).|HPO|N|
C0427063|The shoulder, or pectoral, girdle is composed of the clavicles and the scapulae. Shoulder-girdle weakness refers to lack of strength of the muscles attaching to these bones, that is, lack of strength of the muscles around the shoulders.|HPO|N|
C0427064|Weakness of the muscles of the pelvic girdle (also known as the hip girdle), that is, lack of strength of the muscles around the pelvis.|HPO|N|
C0427065|Reduced strength of the musculature of the distal extremities.|HPO|N|
C0427086|Involuntary contractions of muscle leading to involuntary movements of extremities, neck, trunk, or face.|HPO|N|
C0427116|Sensation of losing one''s grip and falling.|ICF-CY|N|
C0427143|A gait disturbance that is characterized by excessive ankle dorsiflexion, knee and hip flexion during the stance phase.|HPO|N|
C0427144|An abnormal gait pattern characterized by the failure of the heel to contact the floor at the onset of stance during gait.|HPO|N|
C0427149|An abnormal gait pattern that arises from weakness of the pretibial and peroneal muscles due to a lower motor neuron lesion. Affected patients have footdrop and are unable to dorsiflex and evert the foot. The leg is lifted high on walking so that the toes clear the ground, and there may be a slapping noise when the foot strikes the ground again.|HPO|N|
C0427163|Dystonic gait disorders frequently appear bizarre, particularly because activity increases dystonic tonus and posture. The abnormal posture of the foot in dystonic gait typically involves inversion, plantar flexion and tonic extension of the big toe. In many patients complex types of walking, such as walking backwards and running are paradoxically less impaired than walking forward and may seem completely unaffected. Sensory tricks, for instance, if the affected individual rests a hand on his or her neck, may improve or even normalize dystonic gait in some patients.|HPO|N|
C0427165|Cautious gait refers to an excessive degree of age-related changes in walking and fear of falling. The walking difficulties seem out of proportion when considering the patient's actual sensory or motor deficits. The gait appears slow, with a wider base than normal, reduced arm swing bilaterally and a slightly stooped posture. This type of gait change often occurs after the first time a patient has fallen.|HPO|N|
C0427190|Truncal ataxia is a sign of ataxia characterized by instability of the trunk. It usually occurs during sitting.|HPO|N|
C0427437|A reduction from the normal range of the average amount of hemoglobin per red blood cell (27 to 31 picograms/cell). A reduced mean corpuscular hemoglobin (MCH) may indicate a hypochromic anemia, but the MCH may be normal if both the total hemoglobin and the red blood cell count are reduced.|HPO|N|
C0427444|An elevation over the normal range of the average amount of hemoglobin per red blood cell (27 to 31 picograms/cell).|HPO|N|
C0427457|An abnormal reduction below the normal number of red blood cells per volume in the circulation.|HPO|N|
C0427458|An abnormal elevation above the normal number of red blood cells per volume in the circulation.|HPO|N|
C0427480|The presence of elliptical, cigar-shaped erythrocytes on peripheral blood smear.|HPO|N|
C0427515|A neutrophil abnormality.|HPO|N|
C0427540|A laboratory test result indicating the presence of blast cells in a blood sample.|NCI|N|
C0427544|An decreased number of circulating monocytes.|HPO|N|
C0427620|ABO phenotype A, corresponding to the genotype AO or AA.|HPO|N|
C0427623|ABO phenotype B, corresponding to the genotype BO or BB.|HPO|N|
C0427624|ABO phenotype AB, corresponding to the genotype AB.|HPO|N|
C0427625|ABO phenotype O, corresponding to the genotype OO.|HPO|N|
C0427633|The Duffy blood group system is based on the presence of a glycoprotein termed Fy that is on the surface of erythrocytes and some other cells. There are two Duffy antigens named Fya and Fyb, and thus there are four Duffy phenotypes|HPO|N|
C0427703|A larger than normal amount or percentage of hematopoietic cells relative to marrow fat.|HPO|N|
C0427825|An abnormal orange color of urine.|HPO|N|
C0427877|An increased lymphocyte count in the cerebrospinal fluid.|HPO|N|
C0427895|A type of urinary cast composed of cells incorporated in a protein matrix. The cells can be those found in the urinary sediment (erythrocytes, leuklocytes, renal tubular epithelial cells).|HPO|N|
C0427965|response of germs to antibiotics treatment|CHV|N|
C0427970|Catalysis of the reaction: a beta-lactam + H2O = a substituted beta-amino acid. [EC:3.5.2.6]|GO|N|
C0428279|A finding that indicates the amount of creatinine in a sample.|NCI|N|
C0428282|An abnormally reduced amount of creatinine in the blood.|HPO|N|
C0428553|Abnormally high glucose concentration in the cerebrospinal fluid.|HPO|N|
C0428642|Blood pressure in the pulmonary artery.|NCI|N|
C0428643|The blood pressure in the pulmonary artery during the contraction of the left ventricle of the heart.|NCI|N|
C0428644|The blood pressure in the pulmonary artery during ventricular relaxation (diastole).|NCI|N|
C0428686|The recorded time interval between the initiation of inhalation and the point at which no further lung volume expansion occurs.|NCI|N|
C0428687|The recorded time interval between the initiation of exhalation and the time at which no further lung volume reduction occurs.|NCI|N|
C0428776|The measure of an individual''s cardiac output as divided by their body surface area (CI= CO/BSA). This calculation is a useful function to determine an individual''s cardiac performance in relation to their body size, providing an overview of global cardiovascular function.|NCI|N|
C0428791|Deposition of calcium salts in the aortic valve.|HPO|N|
C0428851|An abnormal widening of the diameter of the pulmonary artery.|HPO|N|
C0428870|Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system from the left side of the heart to the right.|HPO|N|
C0428871|Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system from the right side of the heart to the left.|HPO|N|
C0428872|Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system from both right side of the heart to the left and vice versa.|HPO|N|
C0428877|The pressure within the CARDIAC ATRIUM. It can be measured directly by using a pressure catheter (see HEART CATHETERIZATION). It can be also estimated using various imaging techniques or other pressure readings such as PULMONARY CAPILLARY WEDGE PRESSURE (an estimate of left atrial pressure) and CENTRAL VENOUS PRESSURE (an estimate of right atrial pressure).|MSH|N|
C0428886|A blood pressure that refers to the average over a cardiac cycle|SNOMEDCT_US|N|
C0428897|The estimated height of the mean jugular venous waveform above the right atrium, as measured by observation of the bifid pulsation while the patient is supine and their neck is inclined at a 45 degree angle.|NCI|N|
C0428908|A derangement in the normal functioning of the sinoatrial node. Typically, SA node dysfunction is manifest as sinoatrial exit block or sinus arrest, but may present as an absolute or relative bradycardia in the presence of a stressor. It may be associated with bradycardia-tachycardia syndrome|NCI|N|
C0428974|A type of arrhythmia that originates above the ventricles, whereby the electrical impulse propagates down the normal His Purkinje system similar to normal sinus rhythm.|HPO|N|
C0428977|A slower than normal heart rate (in adults, slower than 60 beats per minute).|HPO|N|
C0428981|An electrocardiographic finding of an ectopic impulse originating in the AV junction presenting as a QRS complex of supraventricular origin which is not preceded by a P wave. (CDISC)|NCI|N|
C0428990|An electrocardiographic finding of premature atrial complexes which are not conducted to the ventricle, and which are not followed by a QRS complex. (CDISC)|NCI|N|
C0428993|An electrocardiographic finding of two sinus beats followed by a premature atrial complex for 3 or more consecutive cycles; a regularly irregular rhythm of normal and abnormal P waves in a 2-1 ratio. (CDISC)|NCI|N|
C0429001|Two consecutive premature ventricular contractions (PVCs) with no intervening normal beats.|HPO|N|
C0429022|Abnormal increased in the duration of the P wave, which is a marker of delayed inter-atrial conduction.|HPO|N|
C0429027|A QRS complex that is less than 120 milliseconds on electrocardiogram, reflexing rapid activation of the ventricles via the normal His-Purkinje system. It may indicate the presence of an arrhythmia originating above or within the His bundle.|NCI|N|
C0429030|An electrocardiographic finding of a prolonged ST segment, resulting in an increased QT interval, without lengthening of the T wave duration; this may be observed in hypocalcemia. (CDISC)|NCI|N|
C0429087|The time interval between the start of the P wave and the beginning of the QRS complex in the cardiac cycle.|NCI|N|
C0429097|An electrocardiographic finding that represents depolarization of the ventricular myocardium. Normally the ventricles are activated simultaneously.|NCI|N|
C0429170|Progressing carious lesion.|SNOMEDCT_US|N|
C0429263|A question about an individual''s vaginal pH.|NCI|N|
C0429349|These are spontaneous firing action potentials stimulated by needle movement of an injured muscle fiber. There is propagation to, but not past, the needle tip. This inhibits the display of the negative deflection of the waveform.|HPO|N|
C0429468|A menstrual cycle in which no ovulation occurs.|NCI|N|
C0429477|The number of fetal cardiac beats per minute, considered as the reference value against which measurements in the future can be made.|NCI|N|
C0429478|Fluctuations in the baseline fetal heart rate, determined in a 10 minute window while excluding accelerations and decelerations. They are irregular in amplitude and frequency and are visually quantitated as the amplitude of the peak to trough in beats per minute. Sinusoidal patterns are also excluded.|NCI|N|
C0429480|A decrease in the fetal heart rate that has a duration of less than 10 minutes.|NCI|N|
C0429481|A gradual decrease in the fetal heart rate and return to baseline that is associated with a uterine contraction. The nadir of the deceleration occurs at the same time as the peak of the uterine contraction, and the time from onset to nadir of the deceleration is greater than or equal to 30 seconds.|NCI|N|
C0429482|A gradual decrease in the fetal heart rate and return to baseline that is associated with a uterine contraction. The nadir of the deceleration occurs after the peak of the uterine contraction, and the time from onset to nadir of the deceleration is greater than or equal to 30 seconds.|NCI|N|
C0429483|An abrupt increase is defined as an increase from the onset of acceleration to the peak in less than 30 seconds. To be called an acceleration, the peak must be greater than or equal to 15 bpm, and the acceleration must last greater than or equal to 15 seconds from the onset to return to baseline.|NCI|N|
C0429523|Observation of patency of angle of anterior chamber.|SNOMEDCT_US|N|
C0429529|Observation of appearance of angle of anterior chamber.|SNOMEDCT_US|N|
C0429620|An indication of skeletal growth potential based on skeletal maturity indicators, such as radiologic imaging of growth plates.|NCI|N|
C0429631|state of body in regard to ingestion and excretion of nitrogen; difference between nitrogen intake and total nitrogen excretion.|CSP|N|
C0429677|A measurement of the airway conductance relative to lung volume.|NCI|N|
C0429680|Pulmonary compliance measured during the movement of air, such as during active inspiration.|NCI|N|
C0429681|Pulmonary compliance measured without air flow, such as during an inspiratory pause.|NCI|N|
C0429711|The maximum volume of air an individual can exhale from the point of maximal inhalation.|NCI|N|
C0429742|The fastest flow rate of gas noted during the inspiratory cycle.|NCI|N|
C0429753|The quantity of fresh gas that enters the alveoli during inspiration.|NCI|N|
C0429803|Muscular projections that protrude into the lumen of the bladder, criss-crossing the walls of the bladder on its inner surface.|HPO|N|
C0429863|A diagnostic indicator of vascular resistance that is calculated by dividing the difference between the peak systolic and minimum diastolic blood velocities by the mean velocity.|NCI|N|
C0429877|Adequacy of the blood flow through body organs to function at the cellular level|NOC|N|
C0429913|A measurement of the total number of birth events at which the fetus is of at least 20 weeks gestation, or of a birth weight of at least 350 grams if the gestational age is unknown, which is born without signs of life at the time of delivery, and with an Apgar score of zero at both one and five minutes.|NCI|N|
C0429914|A measurement of the total number of instances in which there has been a termination of pregnancy happening before the fetus is able to sustain independent life.|NCI|N|
C0429915|A measurement of the total number of induced abortions experienced by a female subject.|NCI|N|
C0429916|A measurement of the total number of spontaneous abortions (in which the fetus is less than 20 weeks gestational age) experienced by a female subject.|NCI|N|
C0429947|A response indicating that an individual can feed themselves independent of help from others.|NCI|N|
C0429950|A response indicating that an individual requires no help with their personal grooming care.|NCI|N|
C0429956|A response indicating that an individual is fecally continent.|NCI|N|
C0429964|A response indicating that an individual is dependent on others for dressing.|NCI|N|
C0429966|A response indicating that an individual can dress independently of help from others.|NCI|N|
C0429977|A response indicating that an individual is independent with use of a wheelchair.|NCI|N|
C0429983|A response indicating that an individual can go up and down stairs independently of help from others.|NCI|N|
C0429986|A response indicating that an individual is dependent on others to bathe.|NCI|N|
C0431095|An adenocarcinoma characterized by the presence of metaplasia.|NCI|N|
C0431098|A melanoma arising from an atypical intraepithelial melanocytic hyperplasia.|NCI|N|
C0431108|A rare and aggressive glial tumor of the central nervous system, that usually presents in adults with seizures, is most often located in the cerebral hemispheres and that is associated with a very poor prognosis.|ORDO|N|
C0431109|Intraventricular papillary neoplasm derived from choroid plexus epithelium. Plexus tumors are most common in the lateral and fourth ventricles; while 80% of lateral ventricle tumors present in children, fourth ventricle tumors are evenly distributed in all age groups. Clinically, choroid plexus tumors tend to cause hydrocephalus and increased intracranial pressure. Histologically, choroid plexus papillomas correspond to WHO grade I, choroid plexus carcinomas to WHO grade III.|HPO|N|
C0431111|An exceedingly rare, aggressive malignant mesenchymal neoplasm characterized by the presence of a sarcomatous component and a ganglionic or a neuroectodermal component.|NCI|N|
C0431112|A rare mixed neuronal-glial tumor characterized by a mostly supratentorial space-occupying lesion often involving the temporal lobe, although it may occur anywhere in the central nervous system. The tumor shows anaplastic features in its glial component and is considered WHO grade III, which may, albeit inconsistently, indicate more aggressive behavior and less favorable prognosis. Clinical symptoms vary according to the location, the most common manifestation being seizures.|ORDO|N|
C0431118|A meningioma that affects the choroid plexus.|NCI|N|
C0431119|A WHO grade I meningioma characterized by the presence of prominent chronic inflammatory infiltrates that predominate over the meningioma cells.|NCI|N|
C0431121|A WHO grade II morphologic variant of meningioma characterized by the presence of clear glycogen-rich polygonal cells.|NCI|N|
C0431122|A WHO grade II meningioma characterized by the presence of brain invasion and an increased mitotic activity, or at least three of the following morphologic features: small cells, high cellularity, prominent nucleoli, lack of architectural pattern, and necrosis.|NCI|N|
C0431124|A morphologic variant of schwannoma characterized by hypercellularity, Antoni A pattern, and the absence of well-formed Verocay bodies.|NCI|N|
C0431126|A benign peripheral nerve sheath tumor characterized by the presence of Schwann cells, axons, and perineurial fibroblasts. It usually arises from the skin of the head and neck or the oral mucosa. It presents as a solitary and painless nodular mass.|NCI|N|
C0431128|A craniopharyngioma composed of sheets of squamous epithelium which separate to form pseudopapillae. This variant typically lacks nuclear palisading, wet keratin, calcification, and cholesterol deposits. Clinically, endocrine deficiencies are more often associated with papillary craniopharyngioma than with the adamantinomatous type. (Adapted from WHO)|NCI|N|
C0431129|A craniopharyngioma consisting of broad strands, cords and bridges of a multistratified squamous epithelium with peripheral palisading of nuclei. Diagnostic features include nodules of compact ''wet'' keratin and dystrophic calcification. (Adapted from WHO)|NCI|N|
C0431294|An encephalocele located between bregma and lambda.|HPO|N|
C0431334|Herniation of spinal cord tissue and meninges through a defect in the lumbar region of the vertebral column. The protrusion of the tissue is flush with the level of the skin surface.|NCI|N|
C0431335|Herniation of spinal cord tissue and meninges through a defect in the thoracic region of the vertebral column. The protrusion of the tissue is flush with the level of the skin surface.|NCI|N|
C0431336|Herniation of spinal cord tissue and meninges through a defect in the cervical region of the vertebral column. The protrusion of the tissue is flush with the level of the skin surface.|NCI|N|
C0431344|A form of closed neural tube defect in which the spinal tissue lies within the spinal cord having a junction between the spinal cord and the lipoma. Intact skin covers the defect. Neurologic findings first appear during the second year of life.|HPO|N|
C0431348|A defect of development of the brain characterized by absence of the telencephalon (embryonic structure from which the mature cerebrum develops).|HPO|N|
C0431349|A very rare congenital brain defect in which the cerebral cortex, striatum, globus pallidus, thalamus, hypothalamus, and eyes are absent or rudimentary.|NCI|N|
C0431352|Head circumference which falls below 2 standard deviations below the mean for age and gender because of insufficient head growth after birth.|HPO|N|
C0431357|Abnormal increase of cerebrospinal fluid in the subdural space of the brain.|NCI|N|
C0431362|A type of holoprosencephaly in which most of the right and left cerebral hemispheres and lateral ventricles are separated but the most rostral aspect of the telencephalon, the frontal lobes, are fused, especially ventrally.|HPO|N|
C0431363|A type of holoprosencephaly characterized by the presence of a single ventricle and no separation of the cerebral hemisphere. The single midline ventricle is often greatly enlarged.|HPO|N|
C0431368|A partial failure of the development of the corpus callosum.|HPO|N|
C0431369|Dysplasia and dysgenesis of the corpus callosum are nonspecific descriptions that imply defective development of the corpus callosum. The term dysplasia is applied when the morphology of the corpus callosum is altered as a congenital trait. For instance, the corpus callosum may be hump-shaped, kinked, or a striped corpus callosum that lacks an anatomically distinct genu and splenium.|HPO|N|
C0431370|The presence of atrophy (wasting) of the corpus callosum.|HPO|N|
C0431371|Absence of the septum pellucidum (meaning translucent wall in Latin - SP), also known as the ventricle of Sylvius. The septum pellucidum is a thin, triangular double membrane separating the frontal horns of the right and left lateral ventricles of the brain. It extends between the anterior portion of the corpus callosum, and the body of the fornix and its width varies from 1.5 to 3.0 mm.|HPO|N|
C0431375|Lissencephaly (LIS), literally meaning smooth brain, is characterized by smooth or nearly smooth cerebral surface and a paucity of gyral and sulcal development, encompassing a spectrum of brain surface malformations ranging from complete agyria to subcortical band heterotopia (SBH). Classic lissencephaly is associated with an abnormally thick cortex, reduced or abnormal lamination, and diffuse neuronal heterotopia. SBH consists of circumferential bands of heterotopic neurons located just beneath the cortex and separated from it by a thin band of white matter. SBH represents the less severe end of the lissencephaly spectrum of malformations (Pilz et al., 1999, summary by Kato and Dobyns, 2003). Agyria, i.e., brain without convolutions or gyri, was considered a rare malformation until recent progress in neuroradiology (Bordarier et al., 1986). With this technical advantage, a number of lissencephaly syndromes have been distinguished.
Classic lissencephaly (formerly type I) is a brain malformation caused by abnormal neuronal migration at 9 to 13 weeks' gestation, resulting in a spectrum of agyria, mixed agyria/pachygyria, and pachygyria. It is characterized by an abnormally thick and poorly organized cortex with 4 primitive layers, diffuse neuronal heterotopia, enlarged and dysmorphic ventricles, and often hypoplasia of the corpus callosum (Lo Nigro et al., 1997).
Kato and Dobyns (2003) presented a classification system for neuronal migration disorders based on brain imaging findings and molecular analysis. The authors also reviewed the contributions and interactions of the 5 genes then known to cause human lissencephaly: LIS1 (PAFAH1B1), 14-3-3-epsilon (YWHAE), DCX, RELN, and ARX.
Genetic Heterogeneity of Lissencephaly
Lissencephaly is a genetically heterogeneous disorder. See also LIS2 (257320), caused by mutation in the RELN gene (600514) on chromosome 7q22; LIS3 (611603), caused by mutation in the TUBA1A gene (602529) on chromosome 12q13; LIS4 (614019), caused by mutation in the NDE1 gene (609449) on chromosome 16p13; LIS5 (615191), caused by mutation in the LAMB1 gene (150240) on chromosome 7q31; LIS6 (616212), caused by mutation in the KATNB1 gene (602703) on chromosome 16q21; LIS7 (616342), caused by mutation in the CDK5 gene (123831) on chromosome 7q36; LIS8 (617255), caused by mutation in the TMTC3 gene (617218) on chromosome 12q21; LIS9 (618325), caused by mutation in the MACF1 gene (608271) on chromosome 1p34; and LIS10 (618873), caused by mutation in the CEP85L gene (618865) on chromosome 6q22.
X-linked forms include LISX1 (300067), caused by mutation in the DCX gene (300121) on chromosome Xq23, and LISX2 (300215), caused by mutation in the ARX gene (300382) on chromosome Xp21.
See also Miller-Dieker lissencephaly syndrome (MDLS; 247200), a contiguous gene microdeletion syndrome involving chromosome 17p13 and including the PAFAH1B1 and YWHAE (605066) genes. Lissencephaly caused by mutations in the PAFAH1B1 gene is also called 'isolated' lissencephaly to distinguish it from the accompanying features of MDLS.|OMIM|N|
C0431376|A form of lissencephaly characterized by an uneven cortical surface with a so called 'cobblestone' appearace. There are no distinguishable cortical layers.|HPO|N|
C0431380|The presence of developmental dysplasia of the cerebral cortex.|HPO|N|
C0431384|Colpocephaly is an anatomic finding in the brain manifested by occipital horns that are disproportionately enlarged in comparison with other parts of the lateral ventricles.|HPO|N|
C0431391|Enlargement of all or parts of one cerebral hemisphere.|HPO|N|
C0431399|Classic Joubert syndrome (JS) is characterized by three primary findings: A distinctive cerebellar and brain stem malformation called the molar tooth sign (MTS). Hypotonia. Developmental delays. Often these findings are accompanied by episodic tachypnea or apnea and/or atypical eye movements. In general, the breathing abnormalities improve with age, truncal ataxia develops over time, and acquisition of gross motor milestones is delayed. Cognitive abilities are variable, ranging from severe intellectual disability to normal. Additional findings can include retinal dystrophy, renal disease, ocular colobomas, occipital encephalocele, hepatic fibrosis, polydactyly, oral hamartomas, and endocrine abnormalities. Both intra- and interfamilial variation are seen.|GeneReviews|N|
C0431401|Gillespie syndrome (GLSP) is usually diagnosed in the first year of life by the presence of fixed dilated pupils in a hypotonic infant. Affected individuals have a characteristic form of iris hypoplasia in which the pupillary border of the iris exhibits a scalloped or 'festooned' edge, with iris strands extending onto the anterior lens surface at regular intervals. The key extraocular features of Gillespie syndrome are congenital hypotonia, progressive cerebellar hypoplasia, and ataxia, as well as variable cognitive impairment that is usually mild (summary by Gerber et al., 2016 and McEntagart et al., 2016).|OMIM|N|
C0431406|Asymmetry observed in the face of a neonate or infant whose face appears symmetric at rest and asymmetric during crying as the mouth is pulled downward on one side while not moving on the other side.|HPO|N|
C0431414|A developmental defect of the sacrum characterized by partial or disordered development of the sacrum in which portions of the sacrum, which normally is formed by fusion of five sacral vertebrae S1-S5, fail to form or fail to form normally.|HPO|N|
C0431420|Vein of Galen aneurysmal malformation is a choroidal type of arteriovenous malformation that develops between 6 and 11 weeks of gestation. It results from 1 or more arteriovenous fistulas shunting blood toward the prosencephalic vein of Markowski, the embryonic precursor of the vein of Galen. This abnormal shunt leads to progressive dilation of the vein and prevents its involution and subsequent development into the vein of Galen.|HPO|N|
C0431447|Meeting of the medial eyebrows in the midline.|HPO|N|
C0431448|Absence of the eyebrow.|HPO|N|
C0431449|This may present as a partial or complete duplication of the eyebrows.|HPO|N|
C0431460|The orbits do not lie on the same horizontal plane, that is, one eye is lower than the other.|HPO|N|
C0431478|A type of abnormal location of the ears in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front).|HPO|N|
C0431483|The pinna has fewer folds and grooves than usual.|HPO|N|
C0431498|Aberrant subclavian artery is a rare vascular anomaly that is present from birth. It usually causes no symptoms and is oftendiscovered as an incidental finding (such as througha barium swallow or echocardiogram). Occasionally the anomaly causes swallowing difficulty (dysphagia lusoria). Swallowing symptoms in childrenmay present asfeeding difficulty and/or recurrent respiratory tract infection. When aberrant subclavian artery causes no symptoms, treatment is not needed. If the anomaly is causing significant symptoms, treatment may involve surgery. Children with symptomatic aberrant subclavian artery should be carefully evaluated for additional vascular and heart anomalies..|MONDO|N|
C0431501|The presence of both a left and a right ductus arteriosus.|HPO|N|
C0431527|Underdevelopment of the larynx.|HPO|N|
C0431564|Multiple indentations and/or elevations on the edge and/or surface of the tongue producing an irregular surface contour.|HPO|N|
C0431565|A benign (noncancerous) tumorlike malformation made up of an abnormal mixture of cells and tissues that originates in the tongue.|HPO|N|
C0431598|A benign (noncancerous) tumorlike malformation made up of an abnormal mixture of cells and tissues that originates in the liver.|HPO|N|
C0431603|Ectopic liver is a rare developmental anomaly in which liver tissue is situated outside the liver. Thus, ectopic liver refers to autonomous islands of normal liver parenchyma located outside the liver. The term ectopic liver is also used, to include liver appendices attached to the native liver by a thin stalk although being fully separated from the latter.|HPO|N|
C0431646|A failure to develop of the lower part of the vagina.|HPO|N|
C0431648|Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH) is characterized by uterovaginal atresia in an otherwise phenotypically normal female with a normal 46,XX karyotype. Anomalies of the genital tract range from upper vaginal atresia to total mullerian agenesis with urinary tract abnormalities. It has an incidence of approximately 1 in 5,000 newborn girls (Cheroki et al., 2006).
The abnormality of sexual development in MRKH syndrome is the same as that in the MURCS association (601076), in which cervicothoracic somite anomalies, unilateral renal agenesis, and conductive deafness are also seen. Mullerian aplasia and hyperandrogenism (158330) is caused by mutation in the WNT4 gene (603490). Familial cases of unilateral or bilateral renal agenesis in combination with mullerian anomalies have also been reported (see urogenital adysplasia, 191830).|OMIM|N|
C0431663|Absence of both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum.|HPO|N|
C0431664|Absence of a testis from the scrotum on one side owing to failure of the testis or testes to descend through the inguinal canal to the scrotum.|HPO|N|
C0431670|Ventral skinfold extending from penis to scrotum.|HPO|N|
C0431691|One sided hypoplasia of the kidney.|HPO|N|
C0431692|Two sided hypoplasia of the kidney.|HPO|N|
C0431693|The 17q12 recurrent deletion syndrome is characterized by variable combinations of the three following findings: structural or functional abnormalities of the kidney and urinary tract, maturity-onset diabetes of the young type 5 (MODY5), and neurodevelopmental or neuropsychiatric disorders (e.g., developmental delay, intellectual disability, autism spectrum disorder, schizophrenia, anxiety, and bipolar disorder). Using a method of data analysis that avoids ascertainment bias, the authors determined that multicystic kidneys and other structural and functional kidney anomalies occur in 85% to 90% of affected individuals, MODY5 in approximately 40%, and some degree of developmental delay or learning disability in approximately 50%. MODY5 is most often diagnosed before age 25 years (range: age 10-50 years).|GeneReviews|N|
C0431694|A rare kidney malformation characterized by a reduction of 80% in nephron number and a marked hypertrophy of the glomeruli and tubules.|ORDO|N|
C0431697|A unilateral form of developmental dysplasia of the kidney.|HPO|N|
C0431698|A bilateral form of developmental dysplasia of the kidney.|HPO|N|
C0431718|The presence of many cysts in the kidney.|HPO|N|
C0431719|A rare benign renal tumor characterized by a typically unilateral, solitary, multiloculated cystic mass consisting of small, non-communicating cysts with flat, cuboidal, or hobnail epithelial lining, separated by fibrous septa which may have an ovarian stroma-like appearance or be paucicellular. The tumor is surrounded by a thick fibrous capsule and does not contain solid areas or necrosis. Patients may be asymptomatic or present with a palpable abdominal mass and/or abdominal or flank pain. Age distribution is bimodal, the typical age of onset being either below five or between 40 and 70 years of age.|ORDO|N|
C0431743|Urachal diverticulum is the rarest type of congenital urachal anomaly (see this term) resulting from the failure of the distal urachus to close at its point of connectivity to the bladder that is usually asymptomatic but can be associated with recurrent urinary tract infections and other complications.|ORDO|N|
C0431750|A narrowing of the opening of the urethra at the external meatus.|NCI|N|
C0431752|Megacystic-megaureter syndrome is an urinary tract malformation characterized by the presence of a massive primary non-obstructive vesicoureteral reflux and a large capacity, smooth, thin walled bladder due to the continual recycling of refluxed urine. Recurrent urinary infections are commonly associated with this condition.|ORDO|N|
C0431755|A rare, congenital, fetal lower urinary tract obstruction (LUTO) anomaly occurring in males and characterized by a posteriorly directed semilunar fold arising from the floor of the anterior urethra and causing urethral obstruction during micturition. The valves may be located anywhere distal to the membranous urethra. Clinical presentation is highly variable, depending on age and degree of urinary obstruction, and includes urinary incontinence, urinary retention, weak urinary stream, post-micturitional dribbling, bulging on the ventral penis, urinary tract infection, and urosepsis.|ORDO|N|
C0431799|An abnormal osseous union (fusion) between the ulna and the humerus.|HPO|N|
C0431810|Overgrowth of only one arm.|HPO|N|
C0431814|Unilateral atrophy (reduction in size) of an arm.|HPO|N|
C0431863|Synostosis (bony fusion) involving one or more bones of the carpus (scaphoid, lunate, triquetrum, trapezium, trapezoid, capitate, hamate, pisiform).|HPO|N|
C0431886|In the resting position, the tip of the thumb is on, or near, the palm, close to the base of the fourth or fifth finger.|HPO|N|
C0431887|With the hand relaxed and the thumb in the plane of the palm, the axis of the thumb forms an angle of at least 90 degrees with the long axis of the hand.|HPO|N|
C0431890|Hypoplasia (congenital reduction in size) of the thumb.|HPO|N|
C0431903|The presence of a supernumerary finger or toe (not a thumb or hallux) involving the third or fourth metacarpal/tarsal with associated osseous syndactyly.|HPO|N|
C0431904|Supernumerary digits located at the ulnar side of the hand (that is, on the side with the fifth finger).|HPO|N|
C0431928|Overgrowth of only one leg.|HPO|N|
C0431934|Unilateral atrophy (reduction in size) of a leg.|HPO|N|
C0431943|Congenital structural abnormalities of the LOWER EXTREMITY.|MSH|N|
C0431991|Congenital absence of both lower leg and foot is a rare, non-syndromic, terminal transverse limb reduction defect characterized by unilateral or bilateral absence of both the tibia and the fibula, as well as the distal elements composing the foot.|ORDO|N|
C0431996|Proximal femoral focal deficiency is a deformity manifested by hypoplasia of a variable portion of the femur with shortening of the entire limb.|HPO|N|
C0432028|A condition in which middle parts of the foot (toes and metatarsals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic 3rd toe over absent 2nd or 3rd toes as far as oligo- or monodactyl feet.|HPO|N|
C0432029|A non-syndromic brachydactyly that involves the pes.|MONDO|N|
C0432034|A hallux (big toe) with three phalanges in a single, proximo-distal axis.|HPO|N|
C0432055|Syndactyly with fusion of fingers two and three.|HPO|N|
C0432073|A reduction in the magnitude or amount of ossification of the skull.|HPO|N|
C0432098|Cleft of the soft palate (also known as the velum, or muscular palate) as a result of a developmental defect occurring between the 7th and 12th week of pregnancy. Cleft soft palate can cause functional abnormalities of the Eustachian tube with resulting middle ear anomalies and hearing difficulties, as well as speech problems associated with hypernasal speech due to velopharyngeal insufficiency.|HPO|N|
C0432101|Cleft soft palate in which the cleft goes through the entire length of the soft palate, i.e. from the posterior border of the hard palate until the uvula.|HPO|N|
C0432102|Cleft soft palate in which the cleft does not go through the entire length of the soft palate, i.e. the cleft does not go from the posterior border of the hard palate until the uvula.|HPO|N|
C0432103|Hard-palate submucous clefts are characterized by bony defects in the midline of the bony palate that are covered by the mucous membrane of the roof of the mouth. It may be possible to detect a submucous cleft hard palate upon palpation as a notch in the bony palate.|HPO|N|
C0432119|The cleft of the lip is just medial to the oral commissure and extends across the cheek as a furrow. It ends as a cleft at the junction of the middle and lateral third of the lower eyelid. Microphthalmia is frequently present. The alveolar cleft is through the premolar region and extends superiorly through the orbit at the inferolateral part of the rim and floor. There is a vertical soft tissue deficiency between the lateral portion of the lip and the lower eyelid cleft. The left side of the nose shows vertical shortening, and the left alar base is displaced superiorly. Facial asymmetry secondary to the skeletal abnormality is reflected by a vertical orbital dystopia. However, bothglobes are normal, and there is no abnormality of the upper eyelids, eyebrow, forehead, or frontal hairline. The skeletal clefts vary, ranging from a narrow skeletal furrow that traverses the anterior maxillary wall as on the rightto a broad cleft of the maxilla lateral to the infraorbital foramen and maxillary sinus. This latter cleft enters the inferolateral orbital rim and floor without posterior communication with the inferior orbital fissure on the left side. Medial collapse of the lateral maxillary segments is present bilaterally, with reduction in the transverse dimensions of the maxillary arch. Manifestations of the skeletal disturbance in the sphenoid include a shortening and thickening of the lateral orbital walls in the region of the greater wing and mild asymmetric placement of the pterygoid plates relative to the midline. The right-sided pterygoid plates are smaller and closer to the midline. There is minimal asymmetry of the cranial base and calvarium.|HPO|N|
C0432120|A facial cleft extending from the zygomatic arch to the eye. This zygomaticomaxillary cleft is similar to that typically found in Treacher Collins syndrome. The overlying tissue shows a vertical sclerodermic furrow radiating from the labial commissure or the angle of the mandible across the cheek to a coloboma of the lower eyelid between the middle and lateral one-third. Microphthalmia is not observed. The skeletal cleft is between the maxilla and zygoma; it passes through the inferolateral orbital rim to enter the inferior orbital fissure. No alveolar cleft is present. The zygomatic arch is intact. The soft tissue furrow, which is more apparent on the right, radiates from the oral commissure toward the lateral two-thirds of the lower eyelid. The antimongoloid obliquity of the palpebral fissures is associated with laterally placed lower eyelid clefts and some ectropion. A left-sided anophthalmia is accompanied by adjacent soft tissue hypoplasia and is reflected in a short palpebral fissure, enophthalmos, and minor ptosis of the eyebrow. No abnormality is present in the alveolar arch except for some tilting of the occlusal plane secondary to hypoplasia of the left side of the maxilla. There is a vertical bony groove in the region of the zygomaticomaxillary suture that ends in the inferolateral portion of a small bony orbit. More laterally, the remainder of the zygomatic body and arch is normal in both shape and dimension. The lateral orbital floor is downslanting but intact, and it lacks direct communication with the temporal or infratemporal fossae. The hypoplasia of the left side of the maxilla and orbit is associated with a reduction in the transverse and anteroposterior dimensions of the anterior cranial fossa; mild asymmetry of the middle cranial fossa and calvarium is present. No significant asymmetry of size, shape, or position is present in the sphenoid.|HPO|N|
C0432122|Individuals with trigonocephaly have a keel-shaped forehead with wide biparietal diameter, resulting in a triangular shape of the head. Trigonocephaly results from premature closure of the metopic sutures and usually occurs sporadically (summary by Frydman et al., 1984).
Genetic Heterogeneity of Isolated Trigonocephaly
Also see trigonocephaly-2 (TRIGNO2; 614485), caused by mutation in the FREM1 gene (608944) on chromosome 9p22.|OMIM|N|
C0432123|A kind of craniosynostosis affecting the sagittal suture.|HPO|N|
C0432126|Cloverleaf skull, or Kleeblattschaedel, consists of a trilobular skull with craniosynostosis. The condition shows pathogenetic variability and etiologic heterogeneity. The cause of isolated cloverleaf skull is unknown (Cohen, 2009).
Cohen (1975) pointed out that Kleeblattschaedel is a component of many syndromes, e.g., it is found in some cases of Crouzon syndrome (123500), Pfeiffer syndrome (101600), and Carpenter syndrome (201000).
Cohen (2009) listed 12 monogenic disorders with cloverleaf skull as a feature, including type II thanatophoric dysplasia (187601), which accounts for 40% of all cloverleaf skull syndromes. Cohen (2009) published photographs of cloverleaf skull in various syndromes.|OMIM|N|
C0432149|Absence of one half of the vertebral body in the lumbar spine.|HPO|N|
C0432152|Absence of one half of the vertebral body in the thoracic spine.|HPO|N|
C0432155|Absence of one half of the vertebral body in the cervical spine.|HPO|N|
C0432160|Agenesis of one or more vertebrae of the cervical vertebral column.|HPO|N|
C0432162|A defect in the pars interarticularis of the vertebral arch of a lumbar or sacral vertebra that is present at the time of birth.|NCI|N|
C0432163|An abnormality related to a defect of vertebral separation during development.|HPO|N|
C0432185|Congenital lack of development of the muscles, which are then replaced by a mixture of dense fat and fibrous tissue.|HPO|N|
C0432194|Schneckenbecken dysplasia (SHNKND) is a perinatally lethal skeletal dysplasia. The German term 'Schneckenbecken' refers to the distinctive, snail-like appearance of the ilia that results from a medial bone projection from the inner iliac margin. Other hallmarks of the disorder include thoracic hypoplasia, severe flattening of the vertebral bodies, and short, thick long bones (summary by Hiraoka et al., 2007).|OMIM|N|
C0432197|A rare ciliopathy with major skeletal involvement characterized by short ribs and extremely narrow thorax, severely shortened tubular bones with round metaphyseal ends and lateral spikes, and anomalies of multiple organs such as the heart, kidneys, liver, pancreas, intestine, and genitalia, with occasional occurrence of situs inversus totalis. Cleft lip/palate and polydactyly may also be present. The syndrome is fatal prenatally or in the perinatal period.|ORPHANET|N|
C0432198|Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013).
There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, 218330). Patients with a clinical diagnosis of Beemer-Langer syndrome have been found to carry mutations in the IFT80 gene (611177); see SRTD2, 611263.
For a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 (208500).|OMIM|N|
C0432201|The FLNB disorders include a spectrum of phenotypes ranging from mild to severe. At the mild end are spondylocarpotarsal synostosis (SCT) syndrome and Larsen syndrome; at the severe end are the phenotypic continuum of atelosteogenesis types I (AOI) and III (AOIII) and Piepkorn osteochondrodysplasia (POCD). SCT syndrome is characterized by postnatal disproportionate short stature, scoliosis and lordosis, clubfeet, hearing loss, dental enamel hypoplasia, carpal and tarsal synostosis, and vertebral fusions. Larsen syndrome is characterized by congenital dislocations of the hip, knee, and elbow; clubfeet (equinovarus or equinovalgus foot deformities); scoliosis and cervical kyphosis, which can be associated with a cervical myelopathy; short, broad, spatulate distal phalanges; distinctive craniofacies (prominent forehead, depressed nasal bridge, malar flattening, and widely spaced eyes); vertebral anomalies; and supernumerary carpal and tarsal bone ossification centers. Individuals with SCT syndrome and Larsen syndrome can have midline cleft palate and hearing loss. AOI and AOIII are characterized by severe short-limbed dwarfism; dislocated hips, knees, and elbows; and clubfeet. AOI is lethal in the perinatal period. In individuals with AOIII, survival beyond the neonatal period is possible with intensive and invasive respiratory support. Piepkorn osteochondrodysplasia (POCD) is a perinatal-lethal micromelic dwarfism characterized by flipper-like limbs (polysyndactyly with complete syndactyly of all fingers and toes, hypoplastic or absent first digits, and duplicated intermediate and distal phalanges), macrobrachycephaly, prominant forehead, hypertelorism, and exophthalmos. Occasional features include cleft palate, omphalocele, and cardiac and genitourinary anomalies. The radiographic features at mid-gestation are characteristic.|GeneReviews|N|
C0432206|Pseudodiastrophic dysplasia (PDD) is an extremely rare and severe skeletal dysplasia associated with prenatal manifestation and early lethality. Phenotypic features include short-limbed short stature at birth, facial dysmorphism, and distinctive skeletal abnormalities including short ribs, mild to moderate platyspondyly, shortened long bones with metaphyseal flaring, elongation of the proximal and middle phalanges with subluxation of the proximal interphalangeal joints, subluxation of the elbow, and talipes equinovarus (summary by Byrne et al., 2020).
Based on genetic analysis of patients with a clinical diagnosis of PDD, Byrne et al. (2020) proposed that PDD is likely not a separate genetic disorder, but rather the most severe phenotypic manifestation of skeletal dysplasia arising from defects in proteoglycan (PG) biosynthesis (see MOLECULAR GENETICS).|OMIM|N|
C0432209|The dyssegmental dysplasias are lethal forms of neonatal short-limbed dwarfism. Handmaker et al. (1977) coined the term 'dyssegmental dysplasia' because of the marked differences in size and shape of the vertebral bodies (anisospondyly), which he attributed to errors in segmentation. Fasanelli et al. (1985) proposed that there are different forms of dyssegmental dwarfism, a lethal Silverman-Handmaker type (224410) and a less severe Rolland-Desbuquois type. The Rolland-Desbuquois form is lethal in about 40% of patients. Although many patients survive beyond the newborn period, all exhibit neonatal distress (summary by Hennekam et al., 2010).|OMIM|N|
C0432211|An osteochondrodysplasia that results in abnormalities of bone growth in the vertebral column, epiphysis, and metaphysis.|MONDO|N|
C0432213|Syndrome with characteristics of disproportionate short-trunked short stature, pectus carinatum, short arms, short and broad hands, short metatarsals, flat and broad feet, coxa vara, genu valgum, osteoarthritis, arthrosis and moderate-to-serious gait impairment. The syndrome has been described among Venezuelan Indians of the Yukpa (Irapa) tribe and three siblings from a Mexican mestizo family. Autosomal recessive inheritance has been suggested, but the causative gene has not yet been identified.|SNOMEDCT_US|N|
C0432214|Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis is a type 2 collagen-related bone disorder characterized by precocious, generalized osteoarthritis (with onset as early as childhood) and mild, dysplastic spinal changes (flattening of vertebrae, irregular endplates and wedge-shaped deformities) resulting in a mildly short trunk.|ORDO|N|
C0432215|Progressive pseudorheumatoid dysplasia (PPD) is a skeletal dysplasia characterized by predominant involvement of articular cartilage with progressive joint stiffness and enlargement in the absence of inflammation. Onset – typically between ages three and six years – begins with the involvement of the interphalangeal joints. Over time, involvement of large joints and the spine causes significant joint contractures, gait disturbance, and scoliosis and/or kyphosis, resulting in abnormal posture and significant morbidity. Despite the considerable arthropathy, pain is not a major presenting feature of this condition. Initially height is normal; however, short stature (<3rd centile) becomes evident in adolescence as the skeletal changes progress.|GeneReviews|N|
C0432217|Wolcott-Rallison syndrome is a rare autosomal recessive disorder characterized by permanent neonatal or early infancy insulin-dependent diabetes. Epiphyseal dysplasia, osteoporosis, and growth retardation develop at a later age. Other frequent multisystem manifestations include hepatic and renal dysfunction, mental retardation, and cardiovascular abnormalities (summary by Delepine et al., 2000).|OMIM|N|
C0432219|Opsismodysplasia (OPSMD) is a rare skeletal dysplasia involving delayed bone maturation. Clinical signs observed at birth include short limbs, small hands and feet, relative macrocephaly with a large anterior fontanel, and characteristic craniofacial abnormalities including a prominent brow, depressed nasal bridge, a small anteverted nose, and a relatively long philtrum. Death in utero or secondary to respiratory failure during the first few years of life has been reported, but there can be long-term survival. Typical radiographic findings include shortened long bones with delayed epiphyseal ossification, severe platyspondyly, metaphyseal cupping, and characteristic abnormalities of the metacarpals and phalanges (summary by Below et al., 2013 and Fradet and Fitzgerald, 2017).|OMIM|N|
C0432221|Spondylometaphyseal dysplasia, corner fracture type (SMDCF) is a skeletal dysplasia characterized by short stature and a waddling gait in early childhood. Short stature may be present at birth or develop in early infancy. Individuals may present with short limbs and/or short trunk. Radiographic features include enlargement and corner fracture-like lesions of the metaphyses, developmental coxa vara, shortened long bones, scoliosis, and vertebral anomalies. Limited joint mobility and chronic pain are common. Vision impairment and glaucoma have been reported.|GeneReviews|N|
C0432222|Spondyloenchondrodysplasia (SPENCD) is a very rare genetic skeletal dysplasia characterized clinically by skeletal anomalies (short stature, platyspondyly, short broad ilia) and enchondromas in the long bones or pelvis. SPENCD may have a heterogeneous clinical spectrum with neurological involvement (spasticity, mental retardation and cerebral calcifications) or autoimmune manifestations, such as immune thrombocytopenic purpura, systemic lupus erythematosus (see these terms) hemolytic anemia and thyroiditis.|ORDO|N|
C0432224|A rare, non-rhizomelic, chondrodysplasia punctata syndrome characterized, radiologically, by stippled calcifications and disproportionate, short metacarpals and tibiae (with characteristic overshoot of the proximal fibula), clinically manifesting with severe short stature, bilateral shortening of upper and lower limbs, flat midface and nose, in the absence of cataracts and cutaneous anomalies. Neonatal tachypnea, hydrocephalus and mild developmental delay have been seldomly associated. Additional radiologic features include bowed long bones, platyspondyly and/or vertebral clefts.|ORDO|N|
C0432225|A rare, genetic, primary bone dysplasia disease characterized by usually moderate, postnatal short stature, progressive genu vara deformity, a waddling gait, and radiological signs of metaphyseal dysplasia (i.e. irregular, sclerotic and widened metaphyses), in the absence of biochemical abnormalities suggestive of rickets disease. Intermittent knee pain, lordosis, and delayed motor development may also occasionally be associated.|ORDO|N|
C0432226|A rare form of metaphyseal dysplasia characterized by short stature, rhizomelic micromelia and a mild varus deformity of the legs evident from the first months of life, that is associated with radiological features of severe metaphyseal changes (irregularities, widening and marginal blurring) in long bones, most prominent in proximal femurs, and generalized osteopenia, and that usually spontaneously resolves by the age of three years. Severe autosomal dominant and milder recessive variants have been observed.|ORDO|N|
C0432227|The autosomal dominant TRPV4 disorders (previously considered to be clinically distinct phenotypes before their molecular basis was discovered) are now grouped into neuromuscular disorders and skeletal dysplasias; however, the overlap within each group is considerable. Affected individuals typically have either neuromuscular or skeletal manifestations alone, and in only rare instances an overlap syndrome has been reported. The three autosomal dominant neuromuscular disorders (mildest to most severe) are: Charcot-Marie-Tooth disease type 2C. Scapuloperoneal spinal muscular atrophy. Congenital distal spinal muscular atrophy. The autosomal dominant neuromuscular disorders are characterized by a congenital-onset, static, or later-onset progressive peripheral neuropathy with variable combinations of laryngeal dysfunction (i.e., vocal fold paresis), respiratory dysfunction, and joint contractures. The six autosomal dominant skeletal dysplasias (mildest to most severe) are: Familial digital arthropathy-brachydactyly. Autosomal dominant brachyolmia. Spondylometaphyseal dysplasia, Kozlowski type. Spondyloepiphyseal dysplasia, Maroteaux type. Parastremmatic dysplasia. Metatropic dysplasia. The skeletal dysplasia is characterized by brachydactyly (in all 6); the five that are more severe have short stature that varies from mild to severe with progressive spinal deformity and involvement of the long bones and pelvis. In the mildest of the autosomal dominant TRPV4 disorders life span is normal; in the most severe it is shortened. Bilateral progressive sensorineural hearing loss (SNHL) can occur with both autosomal dominant neuromuscular disorders and skeletal dysplasias.|GeneReviews|N|
C0432228|Brachyolmia is a rare, clinically and genetically heterogeneous group of bone disorders characterized by short trunk, mild short stature, scoliosis and generalized platyspondyly without significant abnormalities in the long bones.|ORDO|N|
C0432230|Langer mesomelic dysplasia (LMD) is characterized by severe limb aplasia or severe hypoplasia of the ulna and fibula, and a thickened and curved radius and tibia. These changes can result in displacement deformities of the hands and feet. Hypoplasia of the mandible is also observed (Langer, 1967).
See also Leri-Weill dyschondrosteosis (127300), a less severe phenotype that results from heterozygous defect in the SHOX or SHOXY genes.|OMIM|N|
C0432231|A rare primary bone dysplasia characterized by severe mesomelic shortness particularly of the lower limbs with distinctive triangular or rhomboid-shaped tibiae and fibulae, accompanied by bony protuberances and skin dimples. Additional manifestations include radioulnar synostosis, dislocation of the radial head, abnormalities of the hands (such as oligosyndactyly or fusiform-shaped fingers) and feet (pes equinovarus, synostoses of tarsals/metatarsals and phalanges), and dysmorphic facial features.|ORDO|N|
C0432233|Trichorhinophalangeal syndrome (TRPS) comprises TRPS I (caused by a heterozygous pathogenic variant in TRPS1) and TRPS II (caused by contiguous gene deletion of TRPS1, RAD21, and EXT1). Both types of TRPS are characterized by distinctive facial features; ectodermal features (fine, sparse, depigmented, and slow growing hair; dystrophic nails; and small breasts); and skeletal findings (short stature; short feet; brachydactyly with ulnar or radial deviation of the fingers; and early, marked hip dysplasia). TRPS II is characterized by multiple osteochondromas (typically first observed clinically on the scapulae and around the elbows and knees between ages 1 month and 6 years) and an increased risk of mild-to-moderate intellectual disability.|GeneReviews|N|
C0432235|Cranioectodermal dysplasia (CED) is a ciliopathy with skeletal involvement (narrow thorax, shortened proximal limbs, syndactyly, polydactyly, brachydactyly), ectodermal features (widely spaced hypoplastic teeth, hypodontia, sparse hair, skin laxity, abnormal nails), joint laxity, growth deficiency, and characteristic facial features (frontal bossing, low-set simple ears, high forehead, telecanthus, epicanthal folds, full cheeks, everted lower lip). Most affected children develop nephronophthisis that often leads to end-stage kidney disease in infancy or childhood, a major cause of morbidity and mortality. Hepatic fibrosis and retinal dystrophy are also observed. Dolichocephaly, often secondary to sagittal craniosynostosis, is a primary manifestation that distinguishes CED from most other ciliopathies. Brain malformations and developmental delay may also occur.|GeneReviews|N|
C0432239|A rare primary bone dysplasia characterized, radiologically, by short, stubby long bones, severely angulated femurs and lesser bowing of other long bones (mild, moderate or no bowing), short and wide iliac wings with horizontal acetabular roofs, platyspondyly and a narrow thorax, clinically manifesting with severe, disproportionate short stature. Regression of femora angulation is observed with advancing age.|ORDO|N|
C0432242|Desbuquois syndrome (DBQD) is an osteochondrodysplasia characterized by severe micromelic dwarfism, facial dysmorphism, joint laxity with multiple dislocations, vertebral and metaphyseal abnormalities and advanced carpotarsal ossification. Two forms have been distinguished on the basis of the presence (type 1) or the absence (type 2) of characteristic hand anomalies. A variant form of DBQD, Kim variant (see these terms), has also been described and is characterized by short stature and articular, minor facial and significant hand anomalies.|ORDO|N|
C0432243|Spondyloepimetaphyseal dysplasia with joint laxity type 1 (SEMDJL1) is characterized by vertebral abnormalities and ligamentous laxity that result in spinal misalignment and progressive severe kyphoscoliosis, thoracic asymmetry, and respiratory compromise resulting in early death. Nonaxial skeletal involvement includes elbow deformities with radial head dislocation, dislocated hips, clubfeet, and tapered fingers with spatulate distal phalanges. Many affected children have an oval face, flat midface, prominent eyes with blue sclerae, and a long philtrum. Palatal abnormalities and congenital heart disease are also observed (summary by Smith et al., 1999). Patients with a similar phenotype and fractures have been described (Malfait et al., 2013).
Genetic Heterogeneity of Spondyloepimetaphyseal Dysplasia with Joint Laxity
Also see SEMDJL2 (603546), caused by mutation in the KIF22 gene (603213) on chromosome 16p11, and SEMDJL3 (618395), caused by mutation in the EXOC6B gene (607880) on chromosome 2p13.|OMIM|N|
C0432244|210720|JABL|N|
C0432246|Microcephalic osteodysplastic primordial dwarfism type II (MOPDII), the most common form of microcephalic primordial dwarfism, is characterized by extreme short stature and microcephaly along with distinctive facial features. Associated features that differentiate it from other forms of primordial dwarfism and that may necessitate treatment include: abnormal dentition, a slender bone skeletal dysplasia with hip deformity and/or scoliosis, insulin resistance / diabetes mellitus, chronic kidney disease, cardiac malformations, and global vascular disease. The latter includes neurovascular disease such as moyamoya vasculopathy and intracranial aneurysms (which can lead to strokes), coronary artery disease (which can lead to premature myocardial infarctions), and renal vascular disease. Hypertension, which is also common, can have multiple underlying causes given the complex comorbidities.|GeneReviews|N|
C0432250|Osteogenesis imperfecta type IIB presents with normal or thin ribs with some fractures, discontinuous beaded ribs and some under-modelling of the femur. The disease is either autosomal dominant or autosomal recessive depending on the gene involved. Autosomal dominant cases occur either sporadically or due to germline mosaicism.|SNOMEDCT_US|N|
C0432252|Osteoporosis-pseudoglioma syndrome is a rare condition characterized by severe thinning of the bones (osteoporosis) and eye abnormalities that lead to vision loss. In people with this condition, osteoporosis is usually recognized in early childhood. It is caused by a shortage of minerals, such as calcium, in bones (decreased bone mineral density), which makes the bones brittle and prone to fracture. Affected individuals often have multiple bone fractures, including in the bones that form the spine (vertebrae). Multiple fractures can cause collapse of the affected vertebrae (compressed vertebrae), abnormal side-to-side curvature of the spine (scoliosis), short stature, and limb deformities. Decreased bone mineral density can also cause softening or thinning of the skull (craniotabes).\n\nMost affected individuals have impaired vision at birth or by early infancy and are blind by young adulthood. Vision problems are usually caused by one of several eye conditions, grouped together as pseudoglioma, that affect the light-sensitive tissue at the back of the eye (the retina), although other eye conditions have been identified in affected individuals. Pseudogliomas are so named because, on examination, the conditions resemble an eye tumor known as a retinal glioma.\n\nRarely, people with osteoporosis-pseudoglioma syndrome have additional signs or symptoms such as mild intellectual disability, weak muscle tone (hypotonia), abnormally flexible joints, or seizures.|MedlinePlus Genetics|N|
C0432253|Bruck syndrome is characterised by the association of osteogenesis imperfecta and congenital joint contractures.|ORDO|N|
C0432254|Singleton-Merten dysplasia is characterized by dental dysplasia, progressive calcification of the thoracic aorta with stenosis, osteoporosis and expansion of the marrow cavities in hand bones. Additional features included generalized muscle weakness and atrophy, and chronic psoriasiform skin eruptions. It has been reported in four unrelated patients (male and female) and in a family with multiple affected members (male).|ORDO|N|
C0432255|Geroderma osteodysplasticum (GO) is an autosomal recessive disorder characterized by skin wrinkling limited to the dorsa of hands and feet and to the abdomen, bowed long bones, and osteopenia with frequent fractures. There is a distinctive facial appearance with droopy skin at the cheeks, maxillary hypoplasia, and large ears. Adult patients appear prematurely aged (summary by Rajab et al., 2008).|OMIM|N|
C0432261|A rare, genetic primary bone dysplasia with increased bone density characterized by susceptibility to fractures after minor trauma, anemia, and characteristic skeletal radiographic changes, such as sandwich vertebra, bone-within-bone appearance, Erlenmeyer-shaped femoral metaphysis, and mild osteosclerosis of the skull base. Dental anomalies and visual impairment secondary to optic nerve compression have been rarely described.|ORPHANET|N|
C0432262|A rare genetic primary bone dysplasia disease characterized by progressive osteosclerosis and platyspondyly.|ORDO|N|
C0432263|Stanescu type dysostosis is a rare form of osteosclerosis.|ORDO|N|
C0432264|Osteomesopyknosis is a nonmalignant sclerosing bone dysplasia of the axial skeleton. Osteosclerosis is limited to the axial skeleton, pelvis, and proximal long bones. The condition is often an incidental radiologic finding in a young adult complaining of back pain. Patients have normal height and laboratory examinations are within normal limits (summary by Yao and Camacho, 2014).|OMIM|N|
C0432267|A syndrome of trichothiodystrophy (sulfur-deficient brittle hair) with photosensitivity, ichthyosiform erythroderma, progeria-like facies, growth and mental retardation, occasional infertility, and variable other defects. When photosensitivity is present, the syndrome is known as PIBIDS or PIBI(D)S; without photosensitivity it is referred to as IBIDS. Syndromes which have brittle hair, impaired intelligence, decreased fertility, and short stature, but no ichthyosis, are referred to as BIDS (see Amish brittle hair syndrome).|JABL|N|
C0432268|Most females with osteopathia striata with cranial sclerosis (OS-CS) present with macrocephaly and characteristic facial features (frontal bossing, hypertelorism, epicanthal folds, depressed nasal bridge, and prominent jaw). Approximately half have associated features including orofacial clefting and hearing loss, and a minority have some degree of developmental delay (usually mild). Radiographic findings of cranial sclerosis, sclerosis of long bones, and metaphyseal striations (in combination with macrocephaly) can be considered pathognomonic. Males can present with a mild or severe phenotype. Mildly affected males have clinical features similar to affected females, including macrocephaly, characteristic facial features, orofacial clefting, hearing loss, and mild-to-moderate learning delays. Mildly affected males are more likely than females to have congenital or musculoskeletal anomalies. Radiographic findings include cranial sclerosis and sclerosis of the long bones; Metaphyseal striations are more common in males who are mosaic for an AMER1 pathogenic variant. The severe phenotype manifests in males as a multiple-malformation syndrome, lethal in mid-to-late gestation, or in the neonatal period. Congenital malformations include skeletal defects (e.g., polysyndactyly, absent or hypoplastic fibulae), congenital heart disease, and brain, genitourinary, and gastrointestinal anomalies. Macrocephaly is not always present and longitudinal metaphyseal striations have not been observed in severely affected males, except for those who are mosaic for the AMER1 pathogenic variant.|GeneReviews|N|
C0432269|Lenz-Majewski hyperostotic dwarfism is a rare condition characterized by intellectual disability, sclerosing bone dysplasia, distinct craniofacial and dental anomalies, loose skin, and distal limb anomalies, particularly brachydactyly and symphalangism. Patients have multiple radiographic abnormalities due to progressive generalized hyperostosis that affects the cranium, vertebrae, and diaphyses of tubular bones, leading to severe growth retardation (summary by Sousa et al., 2014).|OMIM|N|
C0432272|SOST-related sclerosing bone dysplasias include sclerosteosis and van Buchem disease, both disorders of progressive bone overgrowth due to increased bone formation. The major clinical features of sclerosteosis are progressive skeletal overgrowth, most pronounced in the skull and mandible, and variable syndactyly, usually of the second (index) and third (middle) fingers. Affected individuals appear normal at birth except for syndactyly. Facial distortion due to bossing of the forehead and mandibular overgrowth is seen in nearly all individuals and becomes apparent in early childhood with progression into adulthood. Hyperostosis of the skull results in narrowing of the foramina, causing entrapment of the seventh cranial nerve (leading to facial palsy) with other, less common nerve entrapment syndromes including visual loss (2nd cranial nerve), neuralgia or anosmia (5th cranial nerve), and sensory hearing loss (8th cranial nerve). In sclerosteosis, hyperostosis of the calvarium reduces intracranial volume, increasing the risk for potentially lethal elevation of intracranial pressure. Survival of individuals with sclerosteosis into old age is unusual, but not unprecedented. The manifestations of van Buchem disease are generally milder than sclerosteosis and syndactyly is absent; life span appears to be normal.|GeneReviews|N|
C0432273|Autosomal dominant endosteal hyperostosis is a generalized bone dysplasia characterized by a cortical thickening of the long bones, with no alteration in external shape, and a remarkable resistance of the bone to fracture. The skeleton is normal in childhood. Facial metamorphoses occur in adolescence, as the forehead flattens, the mandible becomes elongated, and the gonial angle decreases. An enlarging osseous prominence (torus palatinus) develops in the hard palate, which may lead to malocclusion or loss of teeth (summary by Van Wesenbeeck et al., 2003).|OMIM|N|
C0432274|Syndrome with characteristics of congenital cerebellar hypoplasia, endosteal sclerosis, hypotonia, ataxia, mild to moderate developmental delay, short stature, hip dislocation, and tooth eruption disturbances. It has been described in four patients. Less common manifestations are microcephaly, strabismus, nystagmus, optic atrophy and dysarthria. It is appears to be transmitted as an autosomal recessive trait.|SNOMEDCT_US|N|
C0432282|A rare bone development disorder characterized by localized, asymmetric osteochondral overgrowth affecting single or multiple epiphyses, most commonly the distal femur, proximal tibia, and talus. The lesions are typically restricted to one side of the epiphysis, with the medial side being affected twice as often as the lateral side. The condition is usually diagnosed in children, and three times more often in boys than in girls. Patients present with pain, limitation in range of motion, and deformity or swelling of the affected joint.|ORDO|N|
C0432283|Osteoglophonic dysplasia (OGD) is characterized by rhizomelic dwarfism, nonossifying bone lesions, craniosynostosis, prominent supraorbital ridge, and depressed nasal bridge (summary by White et al., 2005).|OMIM|N|
C0432284|Infantile myofibromatosis is a rare mesenchymal disorder characterized by the onset of nodules in the skin, striated muscles, bones, and, more rarely, visceral organs. Subcutaneous or soft tissue nodules commonly involve the skin of the head, neck, and trunk. Skeletal and muscular lesions occur in about 50% of patients. Lesions may be solitary or multicentric, and they may be present at birth or become apparent in early infancy or occasionally in adult life (summary by Arcangeli and Calista, 2006).
Genetic Heterogeneity of Infantile Myofibromatosis
See also IMF2 (615293), caused by mutation in the NOTCH3 gene (600276).|OMIM|N|
C0432288|Dermochondrocorneal dystrophy, or Francois syndrome, is a rare disorder characterized by the development of skin nodules, acquired deformities of the extremities, and a corneal dystrophy. The corneal dystrophy is central and superficial with whitish subepithelial opacities (summary by Bierly et al., 1992).|OMIM|N|
C0432289|Winchester syndrome (WNCHRS) presents with severe osteolysis in the hands and feet and generalized osteoporosis and bone thinning, similar to multicentric osteolysis, nodulosis, and arthropathy (MONA; 259600), but subcutaneous nodules are characteristically absent. Various additional features including coarse face, corneal opacities, gum hypertrophy, and EKG changes have been reported (summary by Zankl et al., 2007).
Reviews
Winter (1989) provided a review of Winchester syndrome.
De Vos et al. (2019) reviewed Winchester syndrome, Frank-Ter Haar syndrome (249420), and MONA, tabulating the clinical features of 63 reported patients and noting significant overlap, including craniofacial malformations, reduced bone density, skeletal and cardiac anomalies, and dermal fibrosis. Because the protein products of all 3 causative genes (MMP14; SH3PXD2B, 613293; MMP2, 120360) are involved in collagen remodeling, the authors suggested grouping them together in a revised nosologic classification, designated 'defective collagen-remodeling spectrum (DECORS).'|OMIM|N|
C0432291|Mandibuloacral dysplasia is a condition that causes a variety of abnormalities involving bone development, skin coloring (pigmentation), and fat distribution. People with this condition may grow slowly after birth. Most affected individuals are born with an underdeveloped lower jaw bone (mandible) and small collar bones (clavicles), leading to the characteristic features of a small chin and sloped shoulders. Other bone problems include loss of bone from the tips of the fingers (acroosteolysis), which causes bulbous finger tips; delayed closure of certain skull bones; and joint deformities (contractures).\n\nPeople with mandibuloacral dysplasia can have mottled or patchy skin pigmentation or other skin abnormalities. Some people with this condition have features of premature aging (a condition called progeria), such as thin skin, loss of teeth, loss of hair, and a beaked nose. Some individuals with mandibuloacral dysplasia have metabolic problems, such as diabetes.\n\nA common feature of mandibuloacral dysplasia is a lack of fatty tissue under the skin (lipodystrophy) in certain regions of the body. The two types of this disorder, mandibuloacral dysplasia with type A lipodystrophy (MADA) and mandibuloacral dysplasia with type B lipodystrophy (MADB) are distinguished by the pattern of fat distribution throughout the body. Type A is described as partial lipodystrophy; affected individuals have a loss of fatty tissue from the torso and limbs, but it may build up around the neck and shoulders. Type B is a generalized lipodystrophy, with loss of fatty tissue in the face, torso, and limbs.\n\nMADA usually begins in adulthood, although children can be affected. MADB begins earlier, often just after birth. Many babies with MADB are born prematurely.|MedlinePlus Genetics|N|
C0432292|Familial expansile osteolysis is an autosomal dominant bone dysplasia characterized by increased bone remodeling with osteolytic lesions mainly affecting the appendicular skeleton. There is medullary and cortical expansion of the bone without sclerosis, leading to painful and disabling deformities and tendency to pathologic fracture. Clinical features include onset of conductive hearing loss in childhood, premature loss of teeth, and variably increased serum alkaline phosphatase (summary by Palenzuela et al., 2002 and Elahi et al., 2007).|OMIM|N|
C0432300|Ichthyosis vulgaris is a common skin disorder passed down through families that leads to dry, scaly skin. It often begins in early childhood. Treatment may include heavy duty moisturizers which contain chemicals that help the skin to shed normally, including lactic acid, salicylic acid, and urea. Ichthyosis vulgaris can be a nuisance, but it rarely affects overall health. The condition usually disappears during adulthood, but may return in later years. This condition is inherited in an autosomal dominant pattern.|MONDO|N|
C0432304|Autosomal dominant lamellar ichthyosis (ADLI) is characterized by onset at birth or in the early neonatal period. Patients have large dark scales over the entire body, which are more prominent on the extremities, and palmoplantar keratoderma is present. Some patients experience mild erythema and/or moderate itching. Absence of sweating in severely affected areas has been reported (Boyden et al., 2020).|OMIM|N|
C0432306|Ichthyosis bullosa of Siemens (IBS) is an autosomal dominant congenital bullous ichthyosis without erythroderma. Blistering occurs in response to mild physical trauma and results in superficial erosion ('molting') of the outer skin, particularly on flexures, shins, and the periumbilical region. Keratin filament aggregates are seen by electron microscopy in the granular and upper spinous layers of the epidermis (summary by McLean et al., 1994).|OMIM|N|
C0432311|The Lambert type of ichthyosis hystrix (IHL) is characterized by normal skin at birth that develops striking spiny hyperkeratotic lesions within a few months. There is sparing of the face, palms, and soles, and affected individuals do not experience blistering. Marked improvement of lesions during the summer months has also been observed in some patients. Ultrastructurally, binuclear cells and tonofilament shells surrounding the nucleus in upper keratinocytes are observed (summary by Penrose and Stern, 1958; Wang et al., 2007; Wang et al., 2016).
Another form of ichthyosis hystrix, the Curth-Macklin type (IHCM; 146590), includes severe palmoplantar keratoderma among its features and is caused by mutation in the KRT1 (139350) gene.|OMIM|N|
C0432313|A rare epidermolysis bullosa simplex characterized by the association of the typical trauma-induced blisters with additional features including hearing impairment, alopecia, hypo- or anodontia, and nail dystrophy. Occurrence of vitiliginous skin areas unrelated to the sites of the blisters has also been described.|ORDO|N|
C0432316|Epidermolysis bullosa simplex (EBS) is characterized by fragility of the skin (and mucosal epithelia in some instances) that results in non-scarring blisters and erosions caused by minor mechanical trauma. EBS is distinguished from other types of epidermolysis bullosa (EB) or non-EB skin fragility syndromes by the location of the blistering in relation to the dermal-epidermal junction. In EBS, blistering occurs within basal keratinocytes. The severity of blistering ranges from limited to hands and feet to widespread involvement. Additional features can include hyperkeratosis of the palms and soles (keratoderma), nail dystrophy, milia, and hyper- and/or hypopigmentation. Rare EBS subtypes have been associated with additional clinical features including pyloric atresia, muscular dystrophy, cardiomyopathy, and/or nephropathy.|GeneReviews|N|
C0432317|Epidermolysis bullosa with pyloric atresia (EB-PA) is characterized by fragility of the skin and mucous membranes, manifested by blistering with little or no trauma; congenital pyloric atresia; and ureteral and renal anomalies (dysplastic/multicystic kidney, hydronephrosis/hydroureter, ureterocele, duplicated renal collecting system, absent bladder). The course of EB-PA is usually severe and often lethal in the neonatal period. Most affected children succumb as neonates; those who survive may have severe blistering with formation of granulation tissue on the skin around the mouth, nose, fingers, and toes, and internally around the trachea. However, some affected individuals have little or no blistering later in life. Additional features shared by EB-PA and the other major forms of EB include congenital localized absence of skin (aplasia cutis congenita) affecting the extremities and/or head, milia, nail dystrophy, scarring alopecia, hypotrichosis, contractures, and dilated cardiomyopathy.|GeneReviews|N|
C0432321|Dystrophic epidermolysis bullosa (DEB) is a genetic skin disorder affecting skin and nails that usually presents at birth. DEB is divided into two major types depending on inheritance pattern: recessive dystrophic epidermolysis bullosa (RDEB) and dominant dystrophic epidermolysis bullosa (DDEB). Each type is further divided into multiple clinical subtypes. Absence of a known family history of DEB does not preclude the diagnosis. Clinical findings in severe generalized RDEB include skin fragility manifest by blistering with minimal trauma that heals with milia and scarring. Blistering and erosions affecting the whole body may be present in the neonatal period. Oral involvement may lead to mouth blistering, fusion of the tongue to the floor of the mouth, and progressive diminution of the size of the oral cavity. Esophageal erosions can lead to webs and strictures that can cause severe dysphagia. Consequently, malnutrition and vitamin and mineral deficiency may lead to growth restriction in young children. Corneal erosions can lead to scarring and loss of vision. Blistering of the hands and feet followed by scarring fuses the digits into "mitten" hands and feet, with contractures and pseudosyndactyly. The lifetime risk of aggressive squamous cell carcinoma is higher than 90%. In contrast, the blistering in the less severe forms of RDEB may be localized to hands, feet, knees, and elbows with or without involvement of flexural areas and the trunk, and without the mutilating scarring seen in severe generalized RDEB. In DDEB, blistering is often mild and limited to hands, feet, knees, and elbows, but nonetheless heals with scarring. Dystrophic nails, especially toenails, are common and may be the only manifestation of DDEB.|GeneReviews|N|
C0432322|Dystrophic epidermolysis bullosa (DEB) is a genetic skin disorder affecting skin and nails that usually presents at birth. DEB is divided into two major types depending on inheritance pattern: recessive dystrophic epidermolysis bullosa (RDEB) and dominant dystrophic epidermolysis bullosa (DDEB). Each type is further divided into multiple clinical subtypes. Absence of a known family history of DEB does not preclude the diagnosis. Clinical findings in severe generalized RDEB include skin fragility manifest by blistering with minimal trauma that heals with milia and scarring. Blistering and erosions affecting the whole body may be present in the neonatal period. Oral involvement may lead to mouth blistering, fusion of the tongue to the floor of the mouth, and progressive diminution of the size of the oral cavity. Esophageal erosions can lead to webs and strictures that can cause severe dysphagia. Consequently, malnutrition and vitamin and mineral deficiency may lead to growth restriction in young children. Corneal erosions can lead to scarring and loss of vision. Blistering of the hands and feet followed by scarring fuses the digits into "mitten" hands and feet, with contractures and pseudosyndactyly. The lifetime risk of aggressive squamous cell carcinoma is higher than 90%. In contrast, the blistering in the less severe forms of RDEB may be localized to hands, feet, knees, and elbows with or without involvement of flexural areas and the trunk, and without the mutilating scarring seen in severe generalized RDEB. In DDEB, blistering is often mild and limited to hands, feet, knees, and elbows, but nonetheless heals with scarring. Dystrophic nails, especially toenails, are common and may be the only manifestation of DDEB.|GeneReviews|N|
C0432326|A form of junctional epidermolysis bullosa (JEB) characterized by generalized skin blistering, atrophic scarring, nail dystrophy or nail absence, and enamel hypoplasia, with extracutaneous involvement.|ORDO|N|
C0432330|An umbrella term for a group of rare genetic skin disorders characterized by well-demarcated plaques of reddened, dry and thickened skin. Typically, these lesions are distributed symmetrically on the body and tend to slowly expand and progress over time.|MONDO|N|
C0432333|An abnormality of dermatoglyphs (fingerprints), which are present on fingers, palms, toes, and soles.|HPO|N|
C0432334|An instance of cutis laxa that is inherited.|MONDO|N|
C0432335|A rare, genetic, developmental defect with connective tissue involvement syndrome characterized by neonatal cutis laxa, marfanoid habitus with arachnodactyly, pulmonary emphysema, cardiac anomalies, and diaphragmatic hernia. Mild contractures of the elbows, hips, and knees, with bilateral hip dislocation may also be associated. There have been no further descriptions in the literature since 1991.|ORDO|N|
C0432337|A spectrum of connective tissue disorders characterized by the association of wrinkled, redundant and sagging inelastic skin with growth and developmental delay, and skeletal anomalies. The spectrum ranges from patients with classic autosomal recessive cutis laxa type 2 (ARCL2, Debré type) to patients with a milder form of the disease, wrinkled skin syndrome (WSS).|ORDO|N|
C0432347|Uncombable hair syndrome (UHS), or pili trianguli et canaliculi, is a rare scalp hair shaft dysplasia.|ORDO|N|
C0432348|Crandall syndrome is characterized by progressive sensorineural deafness, alopecia and hypogonadism with LH and GH deficiencies. It has been described in three brothers. It resembles Björnstad's syndrome (see this term) that combines irregular pili torti and deafness. It is probably inherited as and autosomal recessive disorder.|ORDO|N|
C0432355|Underdevelopment of the nipple.|HPO|N|
C0432357|A rare breast malformation characterized by congenital absence of breast and nipple (amastia), or nipple or mammary gland (athelia or amazia, respectively). It can be unilateral or bilateral and may occur as an isolated malformation or be associated with a syndrome or cluster of other anomalies.|ORDO|N|
C0432361|A rare neurofibroma with an infiltrative growth pattern. It involves the skin and subcutaneous tissue and grows in a plaque-like fashion. Malignant transformation is rare.|NCI|N|
C0432363|A plaque representing a connective-tissue nevus. Connective tissue naevi are uncommon skin lesions that occur when the deeper layers of the skin do not develop correctly or the components of these layers occur in the wrong proportion. Shagreen patches are oval-shaped and nevoid, skin-colored or occasionally pigmented, smooth or crinkled. The word shagreen refers to a type of roughened untanned leather.|HPO|N|
C0432364|Isotretinoin-like syndrome is a phenocopy of the isotretinoin embryopathy. It has been described in six male patients, three of them being siblings born to nonconsanguineous parents. It has characteristics of the same anomalies as those described after maternal treatment with the drug isotretinoin: malformations of the face (small, malformed, or missing ears, micrognathia, cleft palate), conotruncal heart defects, aortic arch anomalies, and central nervous system anomalies (hydrocephalus and posterior fossa abnormalities). As the syndrome has only been reported in males, X-linked recessive inheritance is possible but autosomal recessive inheritance cannot be ruled out.|SNOMEDCT_US|N|
C0432365|Thalidomide embryopathy is a group of anomalies presented in infants as a result of <i>in utero</i> exposure (between 20-36 days after fertilization) to thalidomide, a sedative used in treatment of a range of conditions, including morning sickness, leprosy and multiple myeloma (see these terms). Thalidomine embryopathy is characterized by phocomelia, amelia, forelimb and hand plate anomalies (absence of humerus and/or forearm, femur and/or lower leg, thumb anomalies). Other anomalies include facial hemangiomas, and damages to ears (anotia, microtia), eyes (microphthalmia, anophthalmos, coloboma, strabismus), internal organs (kidney, heart, and gastrointestinal tract), genitalia, and heart. Infant mortality associated with thalidomide embryopathy is estimated to be as high as 40%. Thalidomide is contraindicated in pregnancy and pregnancy prevention is recommended in women under treatment.|ORDO|N|
C0432367|A syndrome of developmental anomalies characterized by growth deficiency, facial dysmorphism and skull, limb and neural defects secondary to maternal exposure to aminopterin or methotrexate (MTX) during pregnancy.|ORDO|N|
C0432370|Fetal carbamazepine syndrome is a drug-related embryofetopathy that can occur when an embryo/fetus is exposed to carbamazepine and that is characterized by facial dysmorphism, with some similarities to that seen in fetal valproate syndrome (see this term), such as epicanthal folds, upward slanting palpebral fissures, short nose, micrognathia and malar hypoplasia, as well as nail dysplasia and major anomalies including cleft lip/palate, neural tube defects and cardiac anomalies. <i>In utero</i> exposure to carbamazepine, in combination with valproate, has been associated with significant developmental delay (particularly affecting verbal intelligence) and a high rate of congenital anomalies.|ORDO|N|
C0432371|Cocaine embryofetopathy is a group of clinical signs observed in newborns exposed <i>in utero</i> to cocaine, a short-acting central nervous system stimulant used as a recreational drug through inhalation of the powder or intravenous injection. Cocaine use during pregnancy is associated with intrauterine growth restriction, low birth weight, seizures, respiratory distress (decreased apnea density and periodic breathing), feeding difficulties, irritability and lability of state, decreased behavioral and autonomic regulation, poor alertness and orientation and cognitive impairment (impaired auditory information processing , visual-spatial delay and subtle language delay) in the offspring.|ORDO|N|
C0432373|Fetal minoxidil syndrome is characterized by a group of symptoms that may be observed in a fetus or newborn when the mother has taken minoxidil during pregnancy. Minoxidil is used in the treatment of malignant renal hypertension and as a topical solution to induce scalp hair growth. Hypertrichosis that gradually diminishes during the first six postnatal months has been reported. Additional reported features include cardiac (congenital great vessel transposition and pulmonary valve stenosis), neurodevelopmental (caudal regression sequence) (see these terms), gastrointestinal, renal, and limb malformations. Conclusive studies are however not available.|ORDO|N|
C0432408|A chromosomal abnormality consisting of the presence of a third copy of chromosome 12 in somatic cells.|NCI|N|
C0432409|The presence of a third copy of chromosome 11 in somatic cells.|NCI|N|
C0432410|A chromosomal abnormality consisting of the presence of a third copy of chromosome 10 in somatic cells.|NCI|N|
C0432411|A chromosomal abnormality consisting of the presence of a third copy of chromosome 9 in somatic cells.|NCI|N|
C0432412|A chromosomal abnormality consisting of the presence of a third copy of chromosome 8 in somatic cells.|NCI|N|
C0432413|A chromosomal abnormality consisting of the presence of a third copy of chromosome 7 in somatic cells.|NCI|N|
C0432414|Trisomy 6 is a rare prenatal finding. Trisomy 6 conceptions have not been observed in the large case reports of chromosomal mosaicism detected during chorionic villus sampling (Hahnemann & Vejerslev 1997).|MONDO|N|
C0432442|The main clinical manifestations of chromosome 18p deletion syndrome are mental retardation, growth retardation, craniofacial dysmorphism including round face, dysplastic ears, wide mouth and dental anomalies, and abnormalities of the limbs, genitalia, brain, eyes, and heart. The round face characteristic in the neonatal period and childhood may change to a long face with linear growth of the height of the face (summary by Tsukahara et al., 2001).|OMIM|N|
C0432443|Monosomy 18q is a partial deletion of the long arm of chromosome 18 characterized by highly variable phenotype, most commonly including hypotonia, developmental delay, short stature, growth hormone deficiency, hearing loss and external ear anomalies, intellectual disability, palatal defects, dysmorphic facial features, skeletal anomalies (foot deformities, tapering fingers, scoliosis) and mood disorders.|ORDO|N|
C0432470|A person who has a chromosome composition of 46 XY and who is phenotypically female.|NCI|N|
C0432475|A person who has a chromosome composition of 46 XX and who is phenotypically male.|NCI|N|
C0432480|A rare, sex chromosome disorder of sex development characterized by the two different haploid sets of maternal and paternal chromosomes and variable phenotype - from normal male or female genitalia, to different degrees of ambiguous genitalia, and often infertility. Also, in the cases of monochorionic dizygotic twins, it can be confined to blood of both twins.|ORDO|N|
C0432485|A problem arising from transplantation.|NCI|N|
C0432487|A group of rare immunodeficiency-associated lymphoproliferative disorders characterized by lymphoid or plasmacytic proliferations developing in the context of immunosuppression in a recipient of a solid organ or stem cell allograft. The group includes non-destructive post-transplant lymphoproliferative disorders (PTLDs), polymorphic PTLD, monomorphic PTLDs, and classic Hodgkin lymphoma PTLD. Patients may have more than one type of PTLD in a single or in different locations. The most commonly involved sites are lymph nodes, gastrointestinal tract, lungs, and liver, although the disease may occur almost anywhere in the body. In solid organ transplant recipients, PTLD may also involve the allograft.|ORDO|N|
C0432520|A malignant neoplasm involving the lower lip.|MONDO|N|
C0432526|A benign adnexal tumor occurring in the face of young female subjects. It is characterized by the presence of epithelial neoplastic cells and keratinous cysts in a desmoplastic stroma.|NCI|N|
C0432528|A rapidly growing, poorly circumscribed, mass-forming proliferation that arises from the subcutaneous tissues. It is characterized by the presence of spindle-shaped fibroblasts, round ganglion-like cells, myxoid to collagenous stroma formation, and high mitotic activity. It recurs only rarely following local excision and does not metastasize.|NCI|N|
C0432529|A rare self-limiting, rapidly growing, non-encapsulated benign neoplasm that arises from the vessels. It is characterized by the presence of plump spindle-shaped fibroblasts, multinucleated osteoclast-like giant cells, chronic inflammatory infiltrate, red blood cell extravasation, and high mitotic activity.|NCI|N|
C0432562|A non-Hodgkin lymphoma or rarely Hodgkin lymphoma that arises from the spleen.|NCI|N|
C0432581|A cancer involving a gingiva of lower jaw.|MONDO|N|
C0434744|A partial dislocation of the shoulder joint.|HPO|N|
C0434785|A partial dislocation of the hip joint, whereby the head of the femur is partially displaced from the socket.|HPO|N|
C0435632|A traumatic break in one or more of the bones in the hand.|NCI|N|
C0436331|No description|HL7V3.0|N|
C0436471|An x-ray of the renal arteries that reveals normal results.|NCI|N|
C0436503|A history of having had an abnormal chest radiograph.|NCI|N|
C0436545|Granulomatous inflammation of the testis. It is characterized by the formation of granulomas around the seminiferous tubules. History of trauma may be present. It is assumed to be a reactive process due to autoimmune phenomena.|NCI|N|
C0437107|Palpation exam confirms presence of a breast lump.|NCI|N|
C0437108|No lump was palpated during breast examination.|NCI|N|
C0437208|A finding noted on examination of the functioning of the nervous system.|NCI|N|
C0438098|One or more previous pregnancies resulted in stillbirth, defined as death of a fetus in the later stages of pregnancy (definitions in the literature vary, with cut-offs ranging from 20 to 28 weeks gestation).|HPO|N|
C0438111|An indication that the patient''s condition has worsened.|NCI|N|
C0438142|A laboratory test result indicating a finding outside the parameters of normal urine measurements.|NCI|N|
C0438154|Graphic representation and categorization of the electrical vectors produced by the depolarization and repolarization of myocardial tissue.|NCI|N|
C0438186|Results that are standard and expected for the reference population with any of the parameters used to measure the mechanical function of the lungs and associated structures.|NCI|N|
C0438214|A laboratory test result indicating the results of the lab test are within normal parameters for the age and population.|NCI|N|
C0438217|A deviation from normal range of the erythrocyte sedimentation rate (ESR), a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. An elevation may indicate inflammation or may be caused by any condition that elevates fibrinogen. A decreased ESR may be seen in polycythemia or in certain blood diseases in which red blood cells have an irregular or smaller shape that causes slower settling.|HPO|N|
C0438235|A laboratory test result indicating the results of a liver function test are within normal parameters for the age and population.|NCI|N|
C0438242|Any deviation from the normal concentration of urea nitrogen in the blood.|HPO|N|
C0438286|No apparent pathologic and/or clinical changes resulting from treatment.|NCI|N|
C0438434|An annular field defect centered on fixation.|HPO|N|
C0438692|Normal or abnormal secretions from the vagina. Mucus produced by the cervical glands is discharged from the vagina naturally, especially during the childbearing years. Causes of abnormal vaginal discharge include infectious agents (e.g., Neisseria gonorrhea, Chlamydia trachomatis, Trichomonas, and Candida albicans), the presence of foreign bodies, and cervical or vaginal cancer.|NCI|N|
C0438750|The presence in the urine of desquamated tubular epithelial cells or macrophages filled with lipid droplets.|HPO|N|
C0439044|An indication that an individual lives alone.|NCI|N|
C0439662|Protected against infectious disease by either specific or non-specific mechanisms.|NCI|N|
C0439857|The psychological or physiological need to take a substance in order to experience its effects or to avoid the effects of its absence.|NCI|N|
C0441748|A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).|HPO|N|
C0441959|A regional lymph node TNM finding indicating that there is no evidence of regional lymph node metastasis.|NCI|N|
C0441960|A general term that refers to a TNM finding of cancer metastases in several regional lymph nodes. The definition of N2 TNM finding depends on the specific type of cancer that it refers to; for example, for breast cancer it refers to metastases in 4-9 axillary lymph nodes; for cutaneous melanoma it refers to metastases in 2-3 regional lymph nodes; for colorectal cancer it refers to metastases in 4 or more regional lymph nodes; and for bladder cancer it refers to metastases in multiple regional lymph nodes in the true pelvis.|NCI|N|
C0441961|A general term that refers to a TNM finding of cancer metastases in multiple lymph nodes. The definition of N3 TNM finding depends on the specific type of cancer that it refers to; for example, for breast cancer it refers to metastases in 10 or more axillary lymph nodes; for cutaneous melanoma it refers to metastases in 4 or more regional lymph nodes; for gastric cancer it refers to metastases in 7 or more regional lymph nodes; and for bladder cancer it refers to metastases in common iliac lymph nodes.|NCI|N|
C0441962|A general term that refers to a TNM finding of cancer metastases usually in a limited number of regional lymph nodes. The definition of N1 TNM finding depends on the specific type of cancer that it refers to; for example, for breast cancer it refers to micrometastases or metastases in 1-3 axillary lymph nodes; for cutaneous melanoma it refers to metastasis in 1 regional lymph node; for colorectal cancer it refers to metastases in 1-3 regional lymph nodes; and for bladder cancer it refers to metastasis in 1 regional lymph node in the true pelvis.|NCI|N|
C0441971|A clinical and/or pathologic distant metastasis TNM finding indicating the spread of cancer to distant anatomic sites.|NCI|N|
C0442726|Perceived, discerned, or discovered.|NCI|N|
C0442730|A positive finding that is weak in intensity, power, or magnitude.|NCI|N|
C0442737|Not perceived, discerned, discovered or identified.|NCI|N|
C0442739|**Description:**There was (or is to be) no change to the item. This is primarily used when this element has not changed, but other attributes in the instance have changed.CHAR(13)|HL7V3.0|N|
C0442740|**Description:**Patient exhibits no reaction to the challenge agent.CHAR(13)|HL7V3.0|N|
C0442804|Total Score 9 or less|LNC|N|
C0442815|The patient is considered as carrier based on the testing results. A carrier is an individual who carries an altered form of a gene which can lead to having a child or offspring in future generations with a genetic disorder.CHAR(13)Deprecation Comment:This antimicrobial susceptibility test interpretation concept is recommended by OO to be deprecated as it is no longer recommended for use in susceptibility testing by CLSI (reference CLSI document M100-S22; Vol. 32 No.3; CLSI Performance Standards for Antimicrobial Susceptibility Testing; Twenty-Second Informational Supplement. Jan 2012).|HL7V3.0|N|
C0442856|No component of the tumor exhibits perfusion equal to or greater than cerebellar gray matter, excluding encased or grossly visible intrinsic vasculature.|NCI|N|
C0442874|A disorder affecting the cranial nerves or the peripheral nervous system. It manifests with pain, tingling, numbness, and muscle weakness. It may be the result of physical injury, toxic substances, viral diseases, diabetes, renal failure, cancer, and drugs.|NCI|N|
C0442880|Flesh-colored papule in or around the nail bed. Ungual fibromas may be periungual (arising under the proximal nail fold) or subungual (originating under the nail plate).|HPO|N|
C0442886|infection by a microorganism following an infection by another kind of microorganism.|CSP|N|
C0442893|A clinical course finding indicating that a disease presents with systemic manifestations.|NCI|N|
C0443146|A specific humoral or cell-mediated immune response against autologous (self) antigens.|NCI|N|
C0443147|A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.|HPO|N|
C0443306|of relating to spasm|CHV|N|
C0443343|Subject to change; variable.|NCI|N|
C0443977|DNA sequence rearrangements that result in the creation of multiple immunoglobulins or T-cell receptors being expressed in a lymphocyte population.|NCI|N|
C0445034|A distant metastasis TNM finding indicating that there is no evidence of distant metastasis.|NCI|N|
C0445036|A TNM finding indicating the spread of cancer to distant anatomic sites. The definition of M1a TNM finding depends on the specific type of cancer that it refers to; for example, for colorectal cancer it refers to metastasis confined to one organ or site (e.g., liver, lung, ovary, nonregional node); for prostate cancer it refers to metastasis to non-regional lymph node(s); for bone cancer it refers to metastasis to the lung.|NCI|N|
C0445037|A TNM finding indicating the spread of cancer to distant anatomic sites. The definition of M1c TNM finding depends on the specific type of cancer that it refers to; for example, for prostate cancer it refers to metastasis to anatomic site(s) other than bone, with or without bone disease; for retinoblastoma it refers to central nervous system metastasis; for melanoma of the uvea it refers to distant metastasis, with the largest diameter of the largest metastasis measuring 8.0 cm or more.|NCI|N|
C0445039|A distant metastasis TNM finding indicating that the status of distant metastasis cannot be assessed.|NCI|N|
C0445064|A TNM finding indicating the spread of cancer to distant anatomic sites. The definition of M1b TNM finding depends on the specific type of cancer that it refers to; for example, for colorectal cancer it refers to metastases in more than one organ/site or the peritoneum; for prostate cancer it refers to metastasis to bone(s); for bone cancer it refers to metastasis to distant sites other than lung.|NCI|N|
C0445079|A general term that refers to a TNM finding of cancer metastases in several regional lymph nodes. The definition of N2a TNM finding depends on the specific type of cancer that it refers to; for example, for breast cancer it refers to metastases in 4 to 9 axillary lymph nodes (at least 1 tumor deposit greater than 2.0 mm); for cutaneous melanoma it refers to micrometastases in 2-3 regional lymph nodes; for colorectal cancer it refers to metastases in 4-6 regional lymph nodes.|NCI|N|
C0445080|A general term that refers to a TNM finding of cancer metastases in several regional lymph nodes. The definition of N2b TNM finding depends on the specific type of cancer that it refers to; for example, for breast cancer it refers to metastases only in clinically detected ipsilateral internal mammary nodes and in the absence of clinically evident level I, II axillary lymph node metastases; for cutaneous melanoma it refers to macrometastases in 2-3 regional lymph nodes; for colorectal cancer it refers to metastases in seven or more regional lymph nodes.|NCI|N|
C0445081|A general term that refers to a TNM finding of cancer metastases in several regional lymph nodes. The definition of N2c TNM finding depends on the specific type of cancer that it refers to; for example, for cutaneous melanoma it refers to intralymphatic metastases (in transit or satellite metastases) without metastatic nodes; for lip and oral cavity cancer it refers to metastases in bilateral or contralateral lymph nodes, none more than 6 cm in greatest dimension.|NCI|N|
C0445085|A regional lymph node TNM finding indicating that the status of regional lymph nodes cannot be assessed.|NCI|N|
C0445092|An indication that signs of metastasis were not found in a sample.|NCI|N|
C0445118|Severely increased amount of excretion of protein in the urine, defined as 3.5 grams per day or more in adults and 40 mg per meter-squared body surface area per hour in children.|HPO|N|
C0445347|Prominent glomerular basement membrane (GBM), reflecting an increase in thickness (subjective estimate) of the basal lamina of the glomerulus of the kidney.|HPO|N|
C0445356|Not connected or associated e.g. by kinship.|NCI|N|
C0449276|The degree to which the lesion has been cut out, or resected.|NCI|N|
C0449387|A morphologic finding indicating the cutaneous melanoma depth of invasion into the dermis and subcutaneous tissue.|NCI|N|
C0449406|The organ identified as the original site of the tumor.|NCI|N|
C0449411|Definition: A factor, such as a microorganism, chemical substance, or form of radiation, whose presence, excessive presence, or (in deficiency diseases) relative absence is essential, in whole or in part, for the occurrence of a condition.CHAR(13)Constraint: The use of this participation is limited to observations.CHAR(13)|HL7V3.0|N|
C0449416|Where something is available or from where it originates.|NCI|N|
C0449430|The unfavorable effect of environmental factors (stressors) on the physiological functions of an organism. Prolonged unresolved physiological stress can affect HOMEOSTASIS of the organism, and may lead to damaging or pathological conditions.|MSH|N|
C0449705|The anatomic site from which a biospecimen was obtained.|NCI|N|
C0449820|A number or range of numeric values measuring performance, function, quality, or ability.|NCI|N|
C0450094|Walks slower than most people on the level, stops after a mile or so, or stops after 15 minutes walking at own pace|LNC|N|
C0451641|Renal stones are formed within the kidneys, and this is called nephrolithiasis. Urolithiasis is a condition that occurs when these stones exit the renal pelvis and move into the remainder of the urinary collecting system, which includes the ureters, bladder, and urethra.|HPO|N|
C0451769|Damage to the kidney and renal tubules resulting from heavy metal exposure.|NCI|N|
C0452132|A syndrome characterized by the presence of structural malformations that are present at birth and can be attributed to an exogenous cause.|NCI|N|
C0452135|Awareness of external senses of the limb after physical loss.|SNOMEDCT_US|N|
C0452136|A bilateral type of conductive hearing impairment.|HPO|N|
C0452138|A bilateral form of sensorineural hearing impairment.|HPO|N|
C0452147|A severe form of hypospadias in which the urethral opening is located at the junction of the penis and scrotum.|HPO|N|
C0452148|Hypospadias with location of the urethral meatus in the perineal region.|HPO|N|
C0452204|Abnormally high blood pressure in a newborn child.|NCI|N|
C0452415|Dietary patterns which have been found to be important in reducing disease risk.|MSH|N|
C0452423|A nutritional plan based on the presumed diet of pre-agricultural human ancestors. It consists mainly of MEAT, EGGS, NUTS, roots and fresh VEGETABLES and FRUITS, and excludes GRAIN, LEGUMES, DAIRY PRODUCTS, and refined DIETARY SUGARS.|MSH|N|
C0454455|Involuntary movements of one hand that accompany and mirror intentional movements of the opposite hand.|HPO|N|
C0454578|A type of aphasia that is characterized by impaired language comprehension.|HPO|N|
C0454596|A type of dysarthria related to bilateral damage of the upper motor neuron tracts of the pyramidal and extra- pyramidal tracts. Speech of affected individuals is slow, effortful, and has a harsh vocal quality.|HPO|N|
C0454641|A delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts.|HPO|N|
C0454642|A delay in the acquisition of the ability to understand the speech of others.|HPO|N|
C0454644|A degree of language development that is significantly below the norm for a child of a specified age.|HPO|N|
C0454651|A language disorder characterized by difficulty in language acquisition despite otherwise normal development and in the absence of any obvious explanatory factors.|MONDO|N|
C0455204|Thinking about ending or making plans to end another''s life.|NCI|N|
C0455270|A sensation of discomfort or distress that is distinct and intensely focused.|NCI|N|
C0455405|A history of a first-degree relative that has hypertension.|NCI|N|
C0455454|A history of a first-degree relative whose death was attributed to sudden infant death syndrome (SIDS).|NCI|N|
C0455458|In a medical encounter, the physician generally will interview the patient about his or her current problem, and may perform additional testing. The past medical history (PMH) in contrast records information about the patient's medical, personal and family history that might be relevant to the presenting illness or to provide optimal clinical management. The PMH generally includes (if relevant) other major illnesses, hospitalizations, surgeries, injuries, allergies, gynecologic and obstetric history, family history, personal history including occupational history, alcohol and drug use, etc.|HPO|N|
C0455531|An event in the personal medical history of heart failure, a condition in which the heart is unable to pump enough blood to meet the body''s requirements.|NCI|N|
C0455610|An indication that a subject has had a surgical procedure in the past.|NCI|N|
C0455624|A record of an individual''s attribute, characteristic or exposure that increases the likelihood of developing a disease or injury. (WHO)|NCI|N|
C0455683|A history of a first-degree relative with congenital heart disease.|NCI|N|
C0455769|Feeling of excessive energy, which may be associated with increased activity.|NCI|N|
C0455792|Apparently small scrotum for age.|HPO|N|
C0455825|The left ventricular volume calculated as the difference between the epicardium delimited volume and the left ventricular chamber volume.|NCI|N|
C0455938|An abnormal increase in the size of nasopharyngeal adenoids.|HPO|N|
C0455987|Death of live newborn between 7and 27 days after birth.|NCI|N|
C0455988|Hydrops fetalis is a descriptive term for generalized edema of the fetus, with fluid accumulation in extravascular components and body cavities. It is not a diagnosis in itself, but a symptom and end-stage result of a wide variety of disorders. In the case of immune hydrops fetalis, a frequent cause is maternofetal incompatibility as in that related to a number of genetic anemias and metabolic disorders expressed in the fetus; in other instances, it remains idiopathic and likely multifactorial (summary by Bellini et al., 2009).
Nonimmune hydrops fetalis accounts for 76 to 87% of all described cases of hydrops fetalis (Bellini et al., 2009).
Genetic Heterogeneity of Hydrops Fetalis
In southeast Asia, alpha-thalassemia (604131) is the most common cause of hydrops fetalis, accounting for 60 to 90% of cases. Almost all of these cases result from homozygous deletion of the HBA1 (141800) and HBA2 (141850) genes. A few cases have been reported that had 1 apparently normal alpha-globin gene, termed the hemoglobin H (613978) hydrops fetalis syndrome (summary by Chui and Waye, 1998).
Other genetic disorders predisposing to NIHF include other congenital anemias, such as erythropoietic porphyria (e.g., 606938.0013), and many metabolic disorders, such as one form of Gaucher disease (e.g., 606463.0009), infantile sialic acid storage disease (269920), mucopolysaccharidosis type VII (253220), glycogen storage disease IV (232500), congenital disorder of glycosylation type Ia (212065), and disorders of lymphatic malformation (see, e.g., LMPHM1, 153100).|OMIM|N|
C0455990|Immune hydrops fetalis (IHF), a form of HF, describes the excessive accumulation of fetal fluid within the fetal extravascular compartments and body cavities due to maternal rhesus (Rh) incompatibility.|ORDO|N|
C0456013|Transient cyanotic discoloration of the hands and feet, especially fingers and toes, in a newborn.|NCI|N|
C0456065|Birth weight less than 1000 grams.|NCI|N|
C0456070|A deficiency or slowing down of growth pre- and postnatally.|HPO|N|
C0456091|A fetus exceeding 90% of expected weight for gestational age.|NCI|N|
C0456103|Systemic inflammatory response to infection in newborn babies.|HPO|N|
C0456126|Rickets that usually affects premature infants. Factors that contribute to the development of neonatal rickets include calcium, phosphorus, or calciferol deficiency. It manifests with spontaneous fractures, respiratory distress, and growth developmental delays.|NCI|N|
C0456129|Duration of the pregnancy|SNOMEDCT_US|N|
C0456132|In newborns, the two frontal bones, two parietal bones, and one occipital bone are joined by fibrous sutures, which form a small posterior fontanelle, and a larger, diamond-shaped anterior fontanelle. These regions allow for the skull to pass the birth canal and for later growth. The fontanelles gradually ossify, whereby the posterior fontanelle usually closes by eight weeks and the anterior fontanelle by the 9th to 16th month of age. Large fontanelles are diagnosed if the fontanelles are larger than age-dependent norms.|HPO|N|
C0456133|A fontanelle that is small for age.|HPO|N|
C0456181|The maximum pressure exerted into the systemic arterial circulation during the contraction of the right ventricle of the heart.|NCI|N|
C0456184|The average blood pressure within the right atrium as measured from a pulmonary artery catheter.|NCI|N|
C0456189|The pressure in the left ventricle at any point prior to the ejection of its contents into the aorta (systole).|NCI|N|
C0456190|The pressure within the left ventricle following the completion of diastolic filling, just prior to systole.|NCI|N|
C0456240|A measurement of the temperature within the deep tissues of the body.|NCI|N|
C0456241|A measurement of the temperature on the surfaces of the outer areas or boundaries of the body.|NCI|N|
C0456261|The resistance to blood flow offered by the pulmonary vasculature, which is normally one sixth of SVR. The major determinant of PVR is pulmonary vessel constriction, most often caused by hypoxia and/or hypercarbia. Prolonged elevated PVR can cause right heart failure.|NCI|N|
C0456377|Judgment and explanation of the significance, meaning, application, or limitation of an assessment instrument and an obtained score or scores.|PSY|N|
C0456483|A proliferation of endometrial cells resulting in glandular enlargement and budding without changes in the basic structure of the endometrium. Epithelial atypia may be present or absent.|NCI|N|
C0456487|A hamartomatous polyp that occurs in the stomach, small and large intestines, and rarely within the esophagus, nasopharynx and the urinary tract. The Peutz-Jeghers polyps are grossly lobulated and dark. Microscopically, they have a central core of smooth muscle covered by mucosa. The smooth muscle shows tree-like branching. The question of whether or not the Peutz-Jeghers polyp is precancerous is a matter of controversy. The loss of heterozygosity on chromosome 19p (where the responsible gene LKB1 is located) suggests that the increased risk of malignancy may be due to malignant transformation from hamartoma to adenocarcinoma. --2002|NCI|N|
C0456498|Otitis media characterized by thick or sticky fluid behind the tympanic membrane.|HPO|N|
C0456511|An inability to move the body at the onset of sleep or upon awakening from sleep, lasting for seconds to a few minutes.|HPO|N|
C0456517|Subacute inflammatory demyelinating polyneuropathy (SIDP) is a subacute progressive symmetric sensorial and/or motor disorder characterized by muscular weakness with impaired sensation, absent or diminished tendon reflexes and elevated cerebrospinal fluid (CSF) proteins. SIDP is an intermediate form between Guillain-Barré syndrome (GBS) and chronic inflammatory demyelinating polyneuropathy (CIDP; see these terms).|ORDO|N|
C0456773|Abnormally increased volume of the first heart sound.|HPO|N|
C0456814|A reduction in goal-directed behavior, that is, motivation, is the determinant of behavior and adaptation that allows individuals to get started, be energized to perform a sustained and directed action.|HPO|N|
C0456844|A finding of multiple myeloma in which the light chain (kappa or lambda) of the immunoglobulin is defective.|NCI|N|
C0456863|A term that refers to high grade B-cell lymphoma, not otherwise specified or high grade B-cell lymphoma with MYC and BCL2 and/or BCL6 rearrangements.|NCI|N|
C0456889|A rare T-cell non-Hodgkin lymphoma characterized by a neoplasm of intraepithelial T-cells mostly occurring in the jejunum or ileum in patients with celiac disease. The lesion may be multifocal and form ulcerating nodules, plaques, strictures, or an exophytic mass. The mesentery and mesenteric lymph nodes are commonly involved. Patients typically present with abdominal pain, malabsorption or diarrhea, anorexia, weight loss, fatigue, nausea, vomiting, and sometimes intestinal perforation or hemorrhage. Prognosis is generally poor.|ORDO|N|
C0456891|Primary bilateral pulmonary hypoplasia is defined as quantitative and/or qualitative underdevelopment of bronchial and pulmonary tissue unrelated to an underlying disorder (Langer and Kaufmann, 1986).|OMIM|N|
C0456892|A reduction of the pressure inside the cranium (skull) and thereby in the brain tissue and cerebrospinal fluid.|HPO|N|
C0456906|A general term that refers to a TNM finding of cancer metastases usually in a limited number of regional lymph nodes. The definition of N1a TNM finding depends on the specific type of cancer that it refers to; for example, for breast cancer it refers to metastasis in 1 to 3 axillary lymph nodes (at least 1 tumor deposit greater than 2.0 mm); for cutaneous melanoma it refers to micrometastasis in one regional lymph node; for colorectal cancer it refers to metastasis in one regional lymph node.|NCI|N|
C0456908|A general term that refers to a TNM finding of cancer metastases usually in a limited number of regional lymph nodes. The definition of N1b TNM finding depends on the specific type of cancer that it refers to; for example, for breast cancer it refers to metastases in internal mammary lymph nodes with micrometastases or macrometastases detected by sentinel lymph node biopsy but not clinically detected; for cutaneous melanoma it refers to macrometastasis in one regional lymph node; for colorectal cancer it refers to metastasis in 2-3 regional lymph nodes.|NCI|N|
C0456909|Blindness is the condition of lacking visual perception defined as a profound reduction in visual perception. On the 6m visual acuity scale, blindness is defined as less than 3/60. On the 20ft visual acuity scale, blindness is defined as less than 20/400. On the decimal visual acuity scale, blindness is defined as less than 0.05. Blindness is typically characterized by a visual field of no greater than 10 degrees in radius around central fixation.|HPO|N|
C0456957|A pathologic TNM finding of distant metastasis.|NCI|N|
C0456973|Hilar lymphadenopathy is swelling or enlargement of lymph nodes localized in hila, wedge-shaped anatomical structures containing pulmonary vessels, major bronchi, nerves and lymph nodes. Hilar lymph nodes are not visible on chest X-ray if they are not enlarged. Hilar lymph node enlargement can be caused by benign and malignant conditions and can be symmetrical (bilateral) or asymmetrical (unilateral).|HPO|N|
C0457002|Granulomatous slack skin (GSS) is a variant of mycosis fungoides (MF; see this term), a form of cutaneous T-cell lymphoma, and is characterized by the presence of circumscribed areas of pendulous lax skin.|ORDO|N|
C0457013|Weyers acrofacial dysostosis (WAD) is an autosomal dominant disorder with dental anomalies, nail dystrophy, postaxial polydactyly, and mild short stature. Ellis-van Creveld syndrome is a similar disorder, with autosomal recessive inheritance and the additional features of disproportionate dwarfism, thoracic dysplasia, and congenital heart disease (summary by Howard et al., 1997).|OMIM|N|
C0457014|Book syndrome is a rare autosomal dominant ectodermal dysplasia syndrome reported in a Swedish family (25 cases from 4 generations), and one isolated case. The syndrome has characteristics of premolar aplasia, hyperhidrosis, and premature greying of the hair. Additional features reported in the isolated case include a narrow palate, hypoplastic nails, eyebrow anomalies, a unilateral simian crease, and poorly formed dermatoglyphics.|SNOMEDCT_US|N|
C0457085|Toes appear swollen and plump owing to inflammation of the complete toe.|HPO|N|
C0457133|Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A), which includes both the more severe Walker-Warburg syndrome (WWS) and the slightly less severe muscle-eye-brain disease (MEB), is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. It represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of DAG1 (128239), collectively known as 'dystroglycanopathies' (summary by Godfrey et al., 2007).
For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (236670).|OMIM|N|
C0457179|A WHO grade I large cystic tumor that occurs almost exclusively in infants, with a prominent desmoplastic stroma having a neuroepithelial population consisting mainly of neoplastic astrocytes. It involves the superficial cerebral cortex and leptomeninges, and often attaches to the dura. Although clinically it presents as large tumor, it generally has a good prognosis following surgical resection. (Adapted from WHO)|NCI|N|
C0457245|An abrupt decrease in the fetal heart rate below baseline that lasts 15 seconds to less than two minutes. The decrease from baseline fetal heart rate is greater than or equal to 15 beats per minute, and the time from onset to nadir of the deceleration is less than 30 seconds. Variable fetal heart rate decelerations that are associated with successive uterine contractions commonly have varying onsets, depths, and durations.|NCI|N|
C0457246|A decrease in the fetal heart rate below baseline lasting 2 to less than 10 minutes with a decrease from baseline that is greater than or equal to 15 beats per minute.|NCI|N|
C0457334|An acute myeloid leukemia in which the monoblasts represent 80% or more of the total cellular population. (WHO, 2001)|NCI|N|
C0457506|A thrombocytosis caused by an underlying condition, such as an infection.|MONDO|N|
C0457520|A rare neoplasm arising from tooth-forming tissues. It usually arises from the posterior mandible. It is characterized by the presence of an epithelial component, fibromyxoid stroma, and dentin formation. It is treated with enucleation and curettage. Recurrences may occur.|NCI|N|
C0457521|An ameloblastoma that presents as a unilocular cyst. It usually arises from the mandible.|NCI|N|
C0457523|A non-neoplastic fibro-osseous lesion of the tooth-bearing regions of the gnathic bones. It is characterized by a variably cellular fibrous stroma with areas of swirling and/or loose collagen. Within the stroma are mineralizing tissues consisting of osteoid, bone, and cementum-like material. As the lesions mature, they become increasingly calcified. (WHO 2017)|NCI|N|
C0457529|A histologic variant of solid/multicystic ameloblastoma characterized by the presence of basal cells forming anastomosing strands and cords in a delicate stroma.|NCI|N|
C0457530|A histologic variant of solid/multicystic ameloblastoma characterized by the presence of odontogenic epithelial islands in a fibrotic stroma.|NCI|N|
C0457531|A solid/multicystic ameloblastoma with follicular pattern in which the central cells in the odontogenic epithelial islands show squamous differentiation.|NCI|N|
C0457532|A solid/multicystic ameloblastoma with follicular pattern in which the odontogenic epithelial islands contain granular cells.|NCI|N|
C0457533|An ameloblastoma with prominent desmoplastic stroma that causes compression of the neoplastic epithelial islands.|NCI|N|
C0457640|Poor oral hygieneCHAR(13)|HL7V3.0|N|
C0457750|The relationship of the tooth in the jaw bone compared to the vertical position of zero degrees when viewed in an x-ray.|NCI|N|
C0457756|Tooth AbsentCHAR(13)|HL7V3.0|N|
C0457801|An individual who does not drink at the present time. This is a heterogeneous group comprising both lifelong teetotallers and ex-drinkers.|NCI|N|
C0458074|The result of testing to determine if an individual is infected with the human immunodeficiency virus.|NCI|N|
C0458219|Complex regional pain syndrome (CRPS) is a rare neurologic disease painful progressive condition that corresponds to a group of disorders characterized by a disproportionate spontaneous or stimulus-induced pain, accompanied by a variably mixed myriad of autonomic and motor disorders including symptoms such as swelling, allodynia, skin blood supply and trophic disturbances. CRPS most often affects one of the arms, legs, hands, or feet and usually occurs after an injury or trauma to that limb.|ORDO|N|
C0458224|A condition referring to irritation or compression of the proximal sciatic nerve, secondary to contraction of the piriformis muscle. It results in pain in the hip or the back of the leg mimicking disk-related sciatica.|NCI|N|
C0458247|Pain due to a stimulus that does not normally provoke pain.|HPO|N|
C0458254|A sense of discomfort or distress that is spasmodic or clenching.|NCI|N|
C0458257|An intense sensation of discomfort or distress that feels like being cut apart.|NCI|N|
C0458259|A sense of discomfort or distress that is squeezing or excessively compressing.|NCI|N|
C0458631|Anxiety related to the execution of a task. (Campbell''s Psychiatric Dictionary, 9th ed.)|MSH|N|
C0459190|A convex curvature of the spine that occurs when an individual thrusts forward the shoulders and pulls back the abdomen.|NCI|N|
C0459667|Raised tissue masses located on the palpebral conjunctiva with a central vessel. Papillae are created by a focal infiltration of inflammatory cells.|HPO|N|
C0460077|A specimen that consists of or contains excessive amounts of fat and fatty substances.|NCI|N|
C0460078|A specimen that exhibits a yellowish pigmentation due to jaundice.|NCI|N|
C0472347|Foix-Alajouanine syndrome, also called subacute ascending necrotising myelitis, results from chronic congestion of the extrinsic pial veins of the spinal cord and of the intrinsic subpial network. It is characterised by progressive ascending deficit over a period of several months or years.|ORDO|N|
C0472374|Bleeding into the cortex or white matter of a cerebral lobe|SNOMEDCT_US|N|
C0472376|Bleeding in the thalamus.|HPO|N|
C0472377|Bleeding within the subcortical regions of cerebral hemispheres (BASAL GANGLIA). It is often associated with HYPERTENSION or ARTERIOVENOUS MALFORMATIONS. Clinical manifestations may include HEADACHE; DYSKINESIAS; and HEMIPARESIS.|MSH|N|
C0472513|Infection of the FRONTAL BONE often as a complication of FRONTAL SINUSITIS or trauma to the frontal bone and skull. It is characterized by subperiosteal abscess with OSTEOMYELITIS.|MSH|N|
C0472734|Aplastic anemia caused by excessive absorption of radiation by the bone marrow.|NCI|N|
C0472751|A rare hematologic disease characterized by the transfer of maternal alloantibodies against red blood cell antigens of the Kell family to a fetus positive for this antigen across the placental barrier, causing suppression of erythropoiesis with reticulocytopenia and anemia, as well as alloimmune hemolysis. Severe anemia may lead to hydrops fetalis. Significant hyperbilirubinemia is rare in this condition.|ORDO|N|
C0472762|A condition in which a person has reduced protein production from two of the four alpha-globin alleles.|NCI|N|
C0472767|Beta-thalassemia (BT) intermedia is a form of BT (see this term) characterized by mild to moderate anemia which does not or only occasionally requires transfusion.|ORDO|N|
C0472777|Hemoglobin E - beta-thalassemia (HbE - BT) is a form of beta-thalassemia (see this term) that results in a mild to severe clinical presentation ranging from a condition indistinguishable from beta-thalassemia major to a mild form of beta-thalassemia intermedia (see these terms).|ORDO|N|
C0472781|A rare hematologic disease characterized by increased levels of methemoglobin in the blood due to exposure to oxidizing agents like nitrates or nitrites, a variety of medications (most commonly local anesthetics), or aniline dyes, among others. Clinical manifestations include cyanosis, dizziness, headache, dyspnea, confusion, and coma. The severity of symptoms ranges from mild to life-threatening, depending on the percentage of methemoglobin.|ORDO|N|
C0472786|Less than the necessary amount of the enzyme that converts methemoglobin into hemoglobin.|NCI|N|
C0472813|IGHD3 is characterized by agammaglobulinemia and markedly reduced numbers of B cells, short stature, delayed bone age, and good response to treatment with growth hormone (summary by Conley et al., 1991).
For general phenotypic information and a discussion of genetic heterogeneity of IGHD, see 262400.|OMIM|N|
C0472817|An autosomal dominant immunodeficiency syndrome caused by mutation(s) in the CXCR4 gene, encoding C-X-C chemokine receptor type 4. It is characterized by neutropenia, hypogammaglobulinemia, extensive human papillomavirus (HPV) infection, and myelokathexis.|NCI|N|
C0473118|Elevated bilirubin levels in the blood of a newborn infant. It is a normal response due to the limited ability to excrete bilirubin until the maturation of the neonatal liver is complete.|NCI|N|
C0473124|A collection of clotted blood surrounding the kidney.|HPO|N|
C0473218|A renal disorder characterized by glomerular damage due to ischemia. It leads to progressive deterioration of renal function.|NCI|N|
C0473219|Renal hypouricemia is characterized by impaired uric acid reabsorption at the apical membrane of proximal renal tubule cells. The syndrome is not lethal and may be asymptomatic. However, it is accompanied by nephrolithiasis and exercise-induced acute renal failure in about 10% of patients (Ichida et al., 2008).
Genetic Heterogeneity of Renal Hypouricemia
See also RHUC2 (612076), which is caused by mutation in the SLC2A9 gene (606142).|OMIM|N|
C0473221|Glomerulonephritis in the context of cryoglobulinemia.|NCI|N|
C0473228|Bleeding originating from the ureter.|NCI|N|
C0473230|An cystitis caused by infection with Neisseria gonorrhoeae.|MONDO|N|
C0473237|Hematuria that is visible upon inspection of the urine.|HPO|N|
C0473311|An abdominal mass formed by bleeding into a follicular ovarian cyst or corpus luteum cyst.|HPO|N|
C0473390|Frequent painful contractions prior to 37 weeks of gestation without cervical change.|NCI|N|
C0473391|A focus of retroplacental thrombus variably extending into the intervillous space, often with peripheral villous compression. The clot may be wholly or minimally laminated reflecting age.|NCI|N|
C0473508|Excessive blood loss between 24 hours after delivery through four weeks that requires intervention.|NCI|N|
C0473527|A metabolic disorder characterized by deficiency of high density (alpha) lipoprotein in the blood.|NCI|N|
C0473546|Vibratory angioedema is a rare, inherited or sporadic, urticaria characterized by localized, typically long-lasting (hours to days), initially pruritic, painful, normocutaneous or erythematous, mucosal and/or cutaneous edema which is triggered by vibration. Laryngeal snoring-induced swelling may be life-threatening.|ORDO|N|
C0473554|Hematohidrosis is a rare condition characterized by blood oozing from intact skin and mucosa. Signs and symptoms include sweating blood, crying bloody tears, bleeding from the nose, bleeding from the ears, or oozing bloodfrom other skin surfaces. The episodes are usually self-limiting.|MONDO|N|
C0473555|A rare skin disease characterized by widespread cutaneous telangiectases usually &amp;#64257;rst appearing on the lower limbs and slowly progressing upwards to involve the trunk and arms. The lesions can be diffuse, localized, macular, plaque-like, discrete, or con&amp;#64258;uent. Recurrent bleeding from the skin and mucous membranes is not a common feature. Likewise, co-existing epidermal or dermal abnormalities, like atrophy, depigmentation, or purpura, are absent. The condition is non-hereditary, and to establish the diagnosis, other primary and secondary telangiectases must be excluded.|ORPHANET|N|
C0473563|A rare disorder which affects the volar surfaces of fingers. Clinical signs include recurrent, spontaneous or post-traumatic bruising of fingers. The clinical course of the resultant hematoma usually follows a pattern of resolution within days.|NCI|N|
C0473566|Idiopathic localized lipodystrophy is a rare, acquired, localized lipodystrophy characterized by asymptomatic, well-demarcated, depressed, lipoatrophic lesions of variable size, with normal overlying skin without antecedent inflammation or a known identifiable cause (autoimmune disease, drug injection, injury, etc).|ORDO|N|
C0473572|A form of diffuse palmoplantar keratoderma that occurs between the ages of 5 and 15 and may be associated with the subsequent development of oesophageal cancer.|SNOMEDCT_US|N|
C0473579|A rare, congenital disorder of the eccrine sweat ducts that presents as grouped keratotic papules and plaques with a linear distribution and/or multiple punctate pits filled with tiny keratotic plugs resembling comedones. The lesion are usually located on the acral portion of a limb.|NCI|N|
C0473583|A rare, genetic or acquired, dermis elastic tissue disorder characterized by asymptomatic, solitary or multiple, firm, skin-colored to yellowish papules or nodules of variable size that are disseminated or grouped in clusters and typically located on the trunk, buttocks, thighs or face, among others. Histologically, focal increase of thickened, tortuous elastic fibers in the reticular dermis, without signs of degeneration, is reported. Isolated cases, as well as cases associated with osteopoikilosis (Buschke-Ollendorf syndrome), may be observed.|ORDO|N|
C0473586|Congenital symmetric circumferential skin creases (CSCSC) is characterized by the folding of excess skin, which leads to ringed creases, primarily of the limbs. Affected individuals also exhibit intellectual disability, cleft palate, and dysmorphic features (summary by Isrie et al., 2015).
Genetic Heterogeneity of Congenital Symmetric Circumferential Skin Creases
CSCSC2 (616734) is caused by mutation in the MAPRE2 gene (605789) on chromosome 18q12.|OMIM|N|
C0473876|A tularemia that results in bacteremia and has symptom fever, has symptom chills, has symptom myalgia, has symptom malaise, and has symptom weight loss.|MONDO|N|
C0474355|A type of retinal neovascularization that affects the periphery of the retina.|HPO|N|
C0474357|A type of retinal hemorrhage that is located within the nerve fiber layer (NFL) of the retina and that exhibits a characteristic flame shape which results from constraints by the structure of the NFL (axons of the ganglion cells).|HPO|N|
C0474358|Accumulation of blood located in the retina's inner nuclear and outer plexiform layers, and having a dot-like or blot-like shape. THe shape results from intraretinal compression, restricting the hemorrhages within a specific location.|HPO|N|
C0474363|Sensory functions relating to determining the location of the source of sound.|ICF-CY|N|
C0474368|The discomfort that is experienced by the pregnant mother during the childbirth process as she attempts to give birth.|NCI|N|
C0474398|Reduced ability to control, or a failure to resist a temptation, urge, or impulse. Examples include disregard for social conventions, general impulsivity, and poor risk assessment.|HPO|N|
C0474420|An explicit or perceived action, demonstration, conduct, or language (verbal and written) of a sexual nature that goes against generally accepted norms, rules, and procedures. It is considered unacceptable within the context in which it occurs, or it may be both culturally acceptable and atypical/uncommon.|HPO|N|
C0474441|Corneal edema of inflammatory origin associated with contact lens wear and morphologically characterized by presence of epithelial microcysts. Microcysts are small (typically 10-50 microns in diameter), clear, irregularly shaped high refractive inclusions that form in the basal layers of the epithelium and move towards the anterior surface of the cornea, surrounding epithelial haze. The cause of microcytic edema is related to the physical presence of contact lenses and possibly a mechanical effect of lens wear.|NCI|N|
C0474444|Abnormal accumulation of fluid and swelling of the stroma of cornea.|HPO|N|
C0474715|An electrocardiographic finding of ST and T wave changes consistent with impaired myocardial perfusion.|NCI|N|
C0474740|A neoplasm that affects the cerebellopontine angle. Representative examples include vestibular schwannoma and meningioma.|NCI|N|
C0474744|The total number of cesarean section delivery events experienced by the individual.|NCI|N|
C0474796|A classification system grouping neoplasms according to their cellular characteristics.|NCI|N|
C0474800|A non-metastasizing neoplasm composed of squamous cells. The neoplastic cells do not display malignant features.|NCI|N|
C0474802|A neoplasm composed of basal cells that remains localized and does not metastasize to other anatomic sites.|MONDO|N|
C0474809|A benign, borderline, or malignant epithelial tumor characterized by the presence of glands and/or cysts lined by neoplastic cells that resemble endometrial cells. It can arise from the uterine body, ovary, fallopian tube, cervix, vagina, and uterine ligament.|NCI|N|
C0474819|A tumor that develops in the retrostyloid compartment of the parapharyngeal space, arising from an island of paraganglion tissue derived from the neural crest that is located on the vagus nerve.|HPO|N|
C0474820|A middle ear paraganglioma arising from paraganglia around the tympanum. Signs and symptoms include a mass behind the tympanum, tinnitus, and conductive hearing loss.|NCI|N|
C0474824|A melanocytic nevus characterized by circumferential depigmentation. It is usually associated with a brisk lymphocytic infiltrate.|NCI|N|
C0474833|A benign neoplasm composed of mesenchymal stromal cells without evidence of cellular atypia.|NCI|N|
C0474834|A benign neoplasm that arises from the ovary and is composed of nests of neoplastic urothelial-type cells in a fibrotic stroma. There is no evidence of atypia or invasion.|NCI|N|
C0474836|A malignant form of hemangioma.|MONDO|N|
C0474844|A central nervous system neoplasm with neuronal and, less consistently, glial differentiation.|HPO|N|
C0474847|A rare variant of malignant peripheral nerve sheath tumor. It is characterized by the presence of malignant cells that contain melanin.|NCI|N|
C0474874|A ureterocele in which some portion of the ureterocele is situated permanently at the bladder neck or in the urethra. The orifice may be situated in the bladder, at the bladder neck, or in the urethra. (Adapted from Glassberg KI, Braren V, Duckett JW, Jacobs EC, King LR, Lebowitz RL et al. Suggested terminology for duplex systems, ectopic ureters and ureteroceles. J Urol 1984; 132(6):1153-1154.)|NCI|N|
C0474885|A localized form of dystrophic epidermolysis bullosa characterized by blisters confined primarily to the hands and feet (acral form) or to the pretibial region (pretibial form). Nail dystrophy or loss is common and may be an isolated finding (nail only form).|ORDO|N|
C0474889|A form of junctional epidermolysis bullosa characterized by neonatal onset of localized blistering, and dystrophic or absent nails. Skin blistering is mainly confined to hands, feet, lower legs and face. Additional findings may include dental enamel hypoplasia and an increased incidence of caries.|ORPHANET|N|
C0474964|A type of pilosebaceous hamartoma characterized by basal cell epitheliomata, epidermoid cysts and comedones, and epidermal atrophy.|NCI|N|
C0474965|Diffuse neonatal hemangiomatosis is a rare vascular tumor from unknown origin characterized by multiple, progressive, rapidly growing cutaneous hemangiomas (e.g. in the scalp, face, trunk and extremities) associated with widespread visceral hemangiomas in the liver, lungs, gastrointestinal tract, brain, and meninges.|ORDO|N|
C0474967|A benign, small and slightly elevated brown or black skin lesion with usually well-demarcated borders. It is characterized by the presence of a melanocytic proliferation resulting in the formation of uniform cellular nests. Sometimes the clinical and morphologic features may be difficult to distinguish from melanoma.|NCI|N|
C0475269|A morphologic qualifier indicating that a cancerous lesion is well differentiated.|NCI|N|
C0475271|A morphologic qualifier indicating that a cancerous lesion is poorly differentiated.|NCI|N|
C0475371|A primary tumor TNM finding indicating that there is no evidence of primary tumor.|NCI|N|
C0475372|A clinical and/or pathologic primary tumor TNM finding indicating that the cancer is limited to the site of growth.|NCI|N|
C0475373|A general term that refers to a TNM finding of primary tumor growth beyond the level of in situ cancer, minimal subepithelial invasion, or minimal greatest diameter. The definition of T2 TNM finding depends on the specific type of cancer that it refers to; for example, for breast cancer it refers to primary tumor that is more than 2.0 cm, but not more than 5.0 cm in greatest dimension; for cutaneous melanoma it refers to primary tumor that is 1.01 to 2 mm in thickness, with or without ulceration; for colorectal cancer it refers to primary tumor with invasion into the muscularis propria; and for bladder cancer it refers to primary tumor with invasion into the muscle layer.|NCI|N|
C0475374|A clinical and/or pathologic primary tumor TNM finding usually indicating that the cancer is locally invasive, without infiltration of adjacent structures.|NCI|N|
C0475383|A general term that refers to a TNM finding of a primary tumor limited to the site of growth. The definition of T1a TNM finding depends on the specific type of cancer that it refers to; for example, for breast cancer it refers to a primary tumor that is more than 0.1cm, but not more than 0.5 cm in greatest dimension; for kidney cancer it refers to a primary tumor that is 4 cm or less in greatest dimension; and for thyroid cancer it refers to a primary tumor that is 1 cm or less in greatest dimension.|NCI|N|
C0475386|A general term that refers to a TNM finding of a primary tumor limited to the site of growth. The definition of T1c TNM finding depends on the specific type of cancer that it refers to; for example, for breast cancer it refers to a primary tumor that is more than 1.0 cm, but not more than 2.0 cm in greatest dimension; for uterine corpus cancer it refers to a primary tumor that invades one-half or more of the myometrium; and for melanoma of the iris it refers to a primary tumor limited to the iris with secondary glaucoma.|NCI|N|
C0475387|A general term that refers to a TNM finding of a primary tumor growth beyond the level of in situ cancer, minimal subepithelial invasion, or minimal greatest diameter. The definition of T2a TNM finding depends on the specific type of cancer that it refers to; for example, for kidney cancer it refers to a primary tumor that measures more than 7 cm but less than or equal to 10 cm in greatest dimension, and is limited to the kidney; for bladder cancer it refers to a primary tumor that invades the superficial muscularis propria (inner half); for cervical cancer it refers to a primary tumor that invades beyond the uterus but not to the pelvic wall or to the lower third of vagina and there is no parametrial invasion.|NCI|N|
C0475388|A general term that refers to a TNM finding of a primary tumor growth beyond the level of in situ cancer, minimal subepithelial invasion, or minimal greatest diameter. The definition of T2b TNM finding depends on the specific type of cancer that it refers to; for example, for kidney cancer it refers to a primary tumor that measures more than 10 cm in greatest dimension, and is limited to the kidney; for bladder cancer it refers to a primary tumor that invades the deep muscularis propria (outer half); for cervical cancer it refers to a primary tumor that invades beyond the uterus but not to the pelvic wall or to the lower third of vagina and there is parametrial invasion.|NCI|N|
C0475390|A general term that refers to a TNM finding of a primary tumor usually indicating that the cancer is locally invasive. The definition of T3a TNM finding depends on the specific type of cancer that it refers to; for example, for kidney cancer it refers to a primary tumor that grossly extends into the renal vein or its segmental (muscle containing) branches or the tumor invades perirenal and/or renal sinus fat but does not extends beyond Gerota''s fascia; for cervical cancer it refers to a primary tumor that involves the lower third of vagina, without extension to pelvic wall; for liver cancer it refers to the presence of multiple tumors measuring more than 5 cm in greatest dimension.|NCI|N|
C0475391|A general term that refers to a TNM finding of a primary tumor usually indicating that the cancer is locally invasive. The definition of T3b TNM finding depends on the specific type of cancer that it refers to; for example, for kidney cancer it refers to a primary tumor that grossly extends into the vena cava below the diaphragm; for cervical cancer it refers to a primary tumor that extends to the pelvic wall and/or causes hydronephrosis or nonfunctioning kidney; for liver cancer it refers to a single tumor or multiple tumors of any size involving a major branch of the portal vein or hepatic vein.|NCI|N|
C0475395|A general term that refers to a TNM finding of a primary tumor with direct invasion of adjacent structures. The definition of T4a TNM finding depends on the specific type of cancer that it refers to; for example, for bladder cancer it refers to a primary tumor that invades the prostatic stroma, uterus, and vagina; for gastric cancer it refers to a primary tumor that invades the serosa (visceral peritoneum); for colorectal cancer it refers to a primary tumor that penetrates to the surface of the visceral peritoneum.|NCI|N|
C0475396|A general term that refers to a TNM finding of a primary tumor with direct invasion of adjacent structures. The definition of T4b TNM finding depends on the specific type of cancer that it refers to; for example, for bladder cancer it refers to a primary tumor that invades the pelvic wall and abdominal wall; for gastric cancer it refers to a primary tumor that invades adjacent structures; for colorectal cancer it refers to a primary tumor with direct invasion or adherence to other organs or structures.|NCI|N|
C0475398|A general term that refers to a TNM finding of a primary tumor with direct invasion of adjacent structures. The definition of T4d TNM finding depends on the specific type of cancer that it refers to; for example, for breast cancer it refers to a primary tumor that meets the clinical-pathologic criteria of inflammatory carcinoma; for ocular adnexal lymphoma it refers to a primary tumor with intracranial spread; for carcinoma of the conjunctiva it refers to a primary tumor that invades the brain.|NCI|N|
C0475406|Sensory functions relating to determining whether the sound is coming from the right or left side.|ICF-CY|N|
C0475413|A term that refers to a TNM finding of a primary tumor microscopically defined as carcinoma in situ.|NCI|N|
C0475440|The size of a tumor in its greatest dimension.|NCI|N|
C0475445|The anatomic site of the tumor.|NCI|N|
C0475447|The anatomic location of a primary tumor.|NCI|N|
C0475533|A group of hemolytic anemias that result from either the deficiency or overproduction of several enzymes involved in metabolizing nucleotides.|NCI|N|
C0475589|Bleeding into the thick layer of immature cells under the ependymal lining at the ventrolateral aspect of the lateral cerebral ventricles of a newborn.|NCI|N|
C0475590|Bleeding into the lateral cerebral ventricles of a newborn infant without acute ventricular dilatation.|NCI|N|
C0475591|Bleeding into the lateral cerebral ventricles of a newborn infant with ventricular dilatation directly attributable to the acute bleeding.|NCI|N|
C0475598|Abnormally dark tarry feces containing blood, usually due to gastrointestinal bleeding or swallowed maternal blood in neonates.|NCI|N|
C0475689|Hemolytic Anemia: anemia resulting from active destruction of red blood cells -- documented by reticulocytosis, indirect hyperbilirubinemia, and sometimes hemoglobinemia.|AIR|N|
C0475703|Withdrawn behaviour is behaviour in which one intentionally does not interact with others and the environment either by physically isolating oneself from others or by not interacting with people or one''s surroundings.|SNOMEDCT_US|N|
C0475715|Recurrent episodes of apnea occurring in infants born less than 37 weeks of gestation, defined specifically as a pause of breathing for more than 15-20 s, or accompanied by oxygen desaturation (SpO2 not more than 80% for at least 4 s) and bradycardia (heart rate less than 2/3 of baseline for at least 4 s), in infants born less than 37 weeks of gestation.|HPO|N|
C0475718|Blood glucose concentration above the upper limit of established reference ranges in a newborn.|NCI|N|
C0475728|Bleeding between the scalp and the periosteum.|NCI|N|
C0475734|Bleeding within the skull of a newborn infant occurring around the time of birth.|NCI|N|
C0475735|Bleeding within the cerebral ventricles in a preterm infant.|NCI|N|
C0475737|Intraventricular hemorrhage that occurs in a preterm infant and that is restricted to subependymal region/germline matrix which is seen in the caudothalamic groove.|HPO|N|
C0475739|A hemorrhage that involves the subependymal region, the lateral cerebral ventricles and the brain tissue occurring around the time of birth.|NCI|N|
C0475751|A clinical and/or pathologic primary tumor TNM finding indicating direct invasion of adjacent structures by cancer.|NCI|N|
C0475801|A rare mature B-cell neoplasm characterized by clonal proliferation of B-cell prolymphocytes, with prolymphocytes constituting more than 55% of lymphoid cells in peripheral blood. IG genes are clonally rearranged. Neoplastic cells are present in the bone marrow, peripheral blood, and spleen. Patients usually present with B symptoms, massive splenomegaly but absent or minimal lymphadenopathy, rapidly increasing lymphocyte count, anemia, and thrombocytopenia. Therapy response is poor.|ORDO|N|
C0475826|Presence of macroscopic residual tumor after treatment.|NCI|N|
C0475880|A specimen that has undergone the destruction of red blood cells followed by the release of the hemoglobin.|NCI|N|
C0476073|A benign, intermediate, or malignant neoplasm characterized by the formation of papillary structures.|NCI|N|
C0476089|A carcinoma of the endometrium, the mucous lining of the uterus.|HPO|N|
C0476121|A benign, borderline, or malignant epithelial tumor that arises from the ovary and is characterized by the presence of papillary proliferations. Representative examples include surface papilloma, borderline serous surface papillary tumor, and serous surface papillary adenocarcinoma.|NCI|N|
C0476122|A benign, borderline, or malignant epithelial tumor of the ovary characterized by the presence of neoplastic epithelial cells that, in well differentiated tumors, resemble the epithelial cells of the fallopian tube and, in poorly differentiated tumors, show anaplastic features. Approximately thirty to fifty percent of the tumors are bilateral. Grossly, the better differentiated tumors consist of cystic masses, usually unilocular, containing a clear but sometimes viscous fluid. Papillary formations are often present. The more malignant tumors tend to be solid and invasive, with areas of necrosis and hemorrhage.|NCI|N|
C0476144|A term that refers to vascular neoplasms with a prominent hemangiopericytic growth pattern.|NCI|N|
C0476147|A benign, intermediate, or malignant cartilaginous matrix-producing neoplasm. Representative examples include osteochondroma, chondroblastoma, and chondrosarcoma.|NCI|N|
C0476203|A benign or malignant soft tissue neoplasm arising exclusively from the synovial membrane. Examples include the diffuse giant cell tumor of tendon sheath, localized giant cell tumor of tendon sheath, and malignant giant cell tumor of tendon sheath.|NCI|N|
C0476223|For cerebral dominance, the presence of right dominance or preference for some functions (eye dominance, foot preference, hand preference), and left dominance or preference for others|SNOMEDCT_US|N|
C0476254|A learning disorder characterized primarily by difficulties in learning to read and spell. Dyslectic children also exhibit a tendency to read words from right to left and to confuse letters such as b and d whose orientation is important for their identification. Children with dyslexia appear to be impaired in phonemic skills (the ability to associate visual symbols with the sounds they represent).|HPO|N|
C0476273|Respiratory distress is objectively observable as the physical or emotional consequences from the experience of dyspnea. The physical presentation of respiratory distress is generally referred to as labored breathing, while the sensation of respiratory distress is called shortness of breath or dyspnea.|HPO|N|
C0476280|Painful sensation in the chest wall region.|NCI|N|
C0476281|Pain in the chest unrelated to a heart disorder.|NCI|N|
C0476287|The diagnosis of severe breath-holding spells (BHS) in childhood is based on a distinctive and stereotyped sequence of clinical events beginning with a provocation resulting in crying or emotional upset that leads to a noiseless state of expiration accompanied by color change and ultimately loss of consciousness and postural tone (Lombroso and Lerman, 1967; DiMario, 1992). Two clinical types are recognized based on the child's coloration (cyanotic or pallid) during these events. Most children experience the cyanotic type, although some experience mixed types. BHS is an involuntary, nonvolitional, reflexic, nonepileptic paroxysmal phenomenon of childhood. The episodes occur during full expiration despite its misnomer. Autonomic dysregulation has been hypothesized as an underlying mechanism that results in loss of consciousness (Hunt, 1990; DiMario and Burleson, 1993; Dimario et al., 1998).|OMIM|N|
C0476327|Increased level of amylase in the blood, an enzyme which helps digest glycogen and starch. It is produced mainly in the pancreas and salivary glands.|HPO|N|
C0476337|An abnormality of the partial pressure of oxygen or carbon dioxide in the arterial blood.|HPO|N|
C0476369|A history of having had an abnormal echocardiogram.|NCI|N|
C0476397|Any abnormality of the electrical responses of various cell types in the retina as measured by electroretinography.|HPO|N|
C0476403|Abnormal results of investigations using electromyography (EMG).|HPO|N|
C0476405|Any anomaly measure by pulmonary function testing, which includes spirometry, measures of diffusing capacity, and plethysmography.|HPO|N|
C0476408|An abnormal reduction on the vital capacity, which is defined as the total lung capacity (volume of air in the lungs at maximal inflation) less the residual volume (i.e., volume of air in the lungs following maximal exhalation) of the lung.|HPO|N|
C0476427|A finding indicating the presence of abnormal cervical cells in a Pap smear.|NCI|N|
C0476431|Any abnormality in the number, length, centromere position, banding pattern or differences between the chromosomes that is not representative of a normal set of chromosomes.|NCI|N|
C0476463|An indication that a subject was found in a deceased state.|NCI|N|
C0476474|Fever that persists longer than expected for an acute infectious disease. No precise threshold exists, and the clinical interpretation of fever is context-dependent, but as a rule of thumb, this term refers to fever that persists longer than 2-3 weeks.|HPO|N|
C0476486|A generalized form of lymphadenopathy.|HPO|N|
C0476587|Academic achievement less than that expected based on one''s scholastic aptitude score or individual intelligence.|PSY|N|
C0476588|An ICD encounter due to problems related to employment and unemployment, excluding occupational exposure to risk-factors (Z57.-), problems related to housing and economic circumstances (Z59.-)|NCI|N|
C0476589|An ICD encounter due to change of job.|NCI|N|
C0476590|An ICD encounter due to threat of job loss.|NCI|N|
C0476591|An ICD encounter due to stressful work schedule.|NCI|N|
C0476592|An ICD encounter due to discord with boss and workmates.|NCI|N|
C0476594|An ICD encounter due to occupational exposure to risk-factors.|NCI|N|
C0476595|An ICD encounter due to occupational exposure to radiation.|NCI|N|
C0476596|An ICD encounter due to occupational exposure to dust.|NCI|N|
C0476597|An ICD encounter due to occupational exposure to toxic agents in agriculture, including solids, liquids, gases or vapors.|NCI|N|
C0476598|An ICD encounter due to occupational exposure to extreme temperature.|NCI|N|
C0476599|An ICD encounter due to occupational exposure to vibration.|NCI|N|
C0476602|An ICD encounter due to exposure to air pollution, excluding tobacco smoke (Z58.7).|NCI|N|
C0476603|An ICD encounter due to exposure to water pollution.|NCI|N|
C0476607|An ICD encounter due to problems related to housing and economic circumstances, excluding inadequate drinking-water supply (Z58.6).|NCI|N|
C0476608|An ICD encounter due to discord with neighbors, lodgers and landlord.|NCI|N|
C0476610|An ICD encounter due to extreme poverty.|NCI|N|
C0476611|An ICD encounter due to insufficient social insurance and welfare support.|NCI|N|
C0476618|An ICD encounter due to absence of family member.|NCI|N|
C0476630|An ICD encounter due to inadequate parental supervision and control, including lack of parental knowledge of what the child is doing or where the child is; poor control; lack of concern or lack of attempted intervention when the child is in risky situations.|NCI|N|
C0476631|An ICD encounter due to parental overprotection, including pattern of upbringing resulting in infantilization and prevention of independent behavior.|NCI|N|
C0476632|An ICD encounter due to hostility towards and scapegoating of child, including negative parental behavior specifically focused on the child as an individual, persistent over time and pervasive over several child behaviors (e.g. automatically blaming the child for any problems in the household or attributing negative characteristics to the child).|NCI|N|
C0476633|An ICD encounter due to emotional neglect of child, including parent talking to the child in a dismissive or insensitive way. lack of interest in the child, of sympathy for the child''s difficulties and of praise and encouragement. irritated reaction to anxious behavior and absence of sufficient physical comforting and emotional warmth.|NCI|N|
C0476635|An ICD encounter due to problems related to unwanted pregnancy, excluding supervision of high-risk pregnancy due to social problems (Z35.7).|NCI|N|
C0476638|An ICD encounter due to discord with counselors, including discord with probation officer, social worker.|NCI|N|
C0476639|An ICD encounter due to conviction in civil and criminal proceedings without imprisonment.|NCI|N|
C0476642|An ICD encounter due to exposure to disaster, war and other hostilities, excluding target of perceived discrimination or persecution (Z60.5).|NCI|N|
C0476690|The absence of an extremity which is not present at birth and is the result of an injury or disease.|NCI|N|
C0476700|The absence of an organ, the cause of which is not present at birth.|NCI|N|
C0477516|A disease that involves the apocrine sweat gland.|MONDO|N|
C0477611|A bone disorder involving ossification centers (EPIPHYSES) of the VERTEBRAL COLUMN.|MSH|N|
C0477776|A female reproductive system disease that is located in Bartholin's gland.|MONDO|N|
C0478012|Defect or defects of the morphogenesis of the aorta and pulmonary arteries.|HPO|N|
C0478589|Reasons for which an individual who has potential health hazards related to socioeconomic and psychosocial circumstances might need an ICD encounter.|NCI|N|
C0478664|Lymphadenopathy restricted to nearby lymph nodes that has not affected other distal nodes.|NCI|N|
C0478677|An ICD encounter due to imprisonment and other incarceration.|NCI|N|
C0481430|Indicates that human immunodeficiency virus has not been detected in a sample.|NCI|N|
C0481504|Treatment designed to help prevent a relapse of a disease following the successful primary treatments (INDUCTION CHEMOTHERAPY and CONSOLIDATION CHEMOTHERAPY) with a long-term low-dose drug therapy.|MSH|N|
C0481508|Vital information about a donor at the time of donation.|NCI|N|
C0481667|The complete expulsion or extraction from the mother of a fetus, irrespective of the duration of pregnancy, which, after such expulsion or extraction, breathes or shows any other evidence of life, such as beating of the heart, pulsation of the umbilical cord, or definite movement of voluntary muscles.|NCI|N|
C0483203|A morphologic finding indicating the presence of nucleated red cells in the peripheral blood.|NCI|N|
C0483368|A tick-borne, infectious disease caused by Anaplasma phagocytophilum, an obligate intracellular bacterium that is typically transmitted to humans by ticks of the Ixodes ricinus species complex.|MONDO|N|
C0489542|A record of the places that a person has been.|NCI|N|
C0489642|Blood flow through a region of the lung in which little or no ventilation takes place, resulting in reduced oxygenation of the blood leaving the lungs.|HPO|N|
C0490017|A history of a first-degree family member with ovarian cancer.|NCI|N|
C0490019|A history of a first-degree family member with testicular cancer.|NCI|N|
C0494039|A tularemia that results in formation of ulcerative lesions located in gastrointestinal tract. The infection has symptom fever, has symptom chills, has symptom malaise, has symptom muscle aches, and has symptom vomiting.|MONDO|N|
C0494040|A brucellosis involving an infection caused by Brucella canis [NCBITaxon:36855] in dogs and humans. The disease has symptom fever, has symptom sweats, has symptom weakness, has symptom weight loss, has symptom headache, has symptom lymphadenopathy and has symptom splenomegaly.|MONDO|N|
C0494132|A pathologic condition that results from Mycobacterium tuberculosis infection.|NCI|N|
C0494152|A cancer that involves the limb bone.|MONDO|N|
C0494158|A malignant neoplasm that affects the renal parenchyma but not the pelvis.|NCI|N|
C0494164|A malignant neoplasm that has spread to the small intestine from another anatomic site.|NCI|N|
C0494165|A malignant neoplasm that has spread to the liver from another (primary) anatomic site. Representative examples include carcinomas, lymphomas, melanomas, or sarcomas.|NCI|N|
C0494226|Any form of anemia that results from the absence of, or the defective action of, any enzyme.|NCI|N|
C0494356|Abnormally low serum sodium levels in the setting of electrolyte/fluid imbalance. This condition may be the result of excessive intake or retention of water and/or excretion of salt.|NCI|N|
C0494475|A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to minutes) and then a clonic (bilateral sustained rhythmic jerking) phase.|HPO|N|
C0494491|A focal lesion of a single peripheral nerve. Damage to a sensory nerve is accompanied by sensory impairment of all modalities in the affected anatomic distribution.|HPO|N|
C0494559|A non-neoplastic or neoplastic disorder affecting the inner ear. Causes are inner ear infections, head injuries, and neoplasms (e.g., acoustic schwannoma). Symptoms include dizziness, imbalance, nausea, and vision problems.|NCI|N|
C0494698|A disorder of the teeth arising during odontogenesis.|NCI|N|
C0494827|A blistering disorder characterized by linear deposition of IgA at the dermoepidermal junction.|NCI|N|
C0494843|Dermatitis caused by an allergic reaction to ingested food.|NCI|N|
C0494853|A cutaneous finding caused by prolonged heat exposure (e.g., space heater) and local heat injury (e.g., caused by LASER THERAPY). It is characterized by epidermal atrophy, reticular hyperpigmentation, and telangiectatic dermatosis.|MSH|N|
C0494876|Thickening of the epidermal layer of the skin.|HPO|N|
C0494930|Discrepancy between the lengths of the lower or upper extremities.|NCI|N|
C0495025|A localized defect of soft tissue or bone that results in the altered function of an associated anatomic structure.|NCI|N|
C0495106|An intraepithelial lesion of the vulvar squamous epithelium associated with HPV infection. It is characterized by mild cytologic atypia.|NCI|N|
C0495107|An intraepithelial lesion of the vulvar squamous epithelium associated with HPV infection. It is characterized by loss of maturation, nuclear hyperchromasia, high nuclear:cytoplasmic ratios, cytological and architectural atypia, and mitoses. Two morphological patterns have been described: basaloid (undifferentiated) and warty (condylomatous, bowenoid). It carries a significant but relatively low risk of progression to squamous cell carcinoma if untreated. (WHO 2020)|NCI|N|
C0495285|Extraction of a fetus through the cervix using destructive surgical techniques.|NCI|N|
C0495465|Transient neonatal myasthenia gravis (MG) is a rare form of MG (see this term) occurring in neonates born to mothers who have the disorder or specific circulating autoantibodies.|ORDO|N|
C0495523|A rare renal disease characterized by congenital unilateral or bilateral narrowing of the renal artery leading to severe arterial hypertension and progressive renal failure in the neonate. Manifestations include hypertensive encephalopathy and/or neurological signs and symptoms due to hyponatremia, polyuria, renal electrolyte loss, proteinuria, and hematuria.|ORDO|N|
C0495787|An observation noted during diagnostic breast imaging that is outside the parameters considered normal.|NCI|N|
C0496690|An ICD encounter due to problems in relationship with parents and in-laws.|NCI|N|
C0496691|An ICD encounter due to disruption of family by separation and divorce, including estrangement.|NCI|N|
C0496692|An ICD encounter due to problem related to primary support group, unspecified.|NCI|N|
C0496695|An ICD encounter due to problems related to other legal circumstances, including arrest, child custody or support proceedings, litigation, prosecution.|NCI|N|
C0496763|A primary or metastatic malignant neoplasm affecting the major salivary glands. Representative examples include carcinoma, lymphoma, and sarcoma.|NCI|N|
C0496769|A primary or metastatic malignant neoplasm that affects the postcricoid region.|NCI|N|
C0496773|A primary or metastatic malignant neoplasm involving the cervical region of the esophagus.|NCI|N|
C0496775|A primary or metastatic malignant neoplasm involving the abdominal region of the esophagus.|NCI|N|
C0496779|A primary or metastatic malignant neoplasm that affects the appendix. Representative examples include carcinoma and lymphoma.|NCI|N|
C0496788|A malignant neoplasm that affects the middle ear. Representative examples include adenocarcinoma and squamous cell carcinoma.|NCI|N|
C0496814|A malignant neoplasm that affects the labia majora.|NCI|N|
C0496815|A malignant neoplasm that affects the labia minora.|NCI|N|
C0496826|A malignant neoplasm involving the trigone of urinary bladder.|MONDO|N|
C0496827|Cancer of the upper, convex surface of the bladder.|MONDO|N|
C0496828|The aspect of the bladder wall that is located on the side.|NCI|N|
C0496833|A malignant neoplasm that affects the ciliary body. Representative examples include melanoma and malignant medulloepithelioma.|NCI|N|
C0496836|A primary or metastatic malignant neoplasm involving the structures of the eye (conjunctiva, cornea, uvea, retina), the lacrimal system, and the eyelid. Representative examples include melanoma, carcinoma, lymphoma, and retinoblastoma.|NCI|N|
C0496838|A primary or metastatic malignant neoplasm affecting the olfactory nerve.|NCI|N|
C0496842|A primary or metastatic malignant neoplasm affecting the pituitary gland.|NCI|N|
C0496857|A neoplasm that arises from the parotid gland and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential. Representative examples include Warthin tumor, monomorphic adenoma, pleomorphic adenoma, and lipoma.|NCI|N|
C0496858|A neoplasm that arises from the major salivary glands and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential. Representative examples include Warthin tumor, monomorphic adenoma, and pleomorphic adenoma.|NCI|N|
C0496859|A neoplasm that arises from the cecum and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C0496860|A neoplasm that arises from the appendix and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C0496867|A neoplasm that arises from the rectum and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C0496869|A neoplasm that arises from the duodenum and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C0496870|A neoplasm that arises from the liver and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C0496871|A neoplasm that arises from the extrahepatic bile ducts and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C0496873|A neoplasm that arises from the retroperitoneum and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C0496874|A neoplasm that arises from the peritoneum and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C0496892|A neoplasm that arises from the kidney and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C0496894|A neoplasm that arises from the ciliary body and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C0496897|A neoplasm that arises from the eye and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C0496899|A neoplasm that arises from the brain and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C0496901|A neoplasm that arises from the anterior or posterior lobe of pituitary gland and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C0497156|Enlargment (swelling) of a lymph node.|HPO|N|
C0497202|An abnormality in voluntary or involuntary eye movements or their control.|HPO|N|
C0497209|An infectious process affecting the conjunctiva.|NCI|N|
C0497243|A benign or malignant neoplasm that affects the heart and/or vessels. Representative examples of benign neoplasms include atrial myxoma, hemangioma, and lymphangioma. Representative examples of malignant neoplasms include pericardial malignant mesothelioma and angiosarcoma.|NCI|N|
C0497247|Abnormal increase in blood pressure. An individual measurement of increased blood pressure does not necessarily imply hypertension. In practical terms, multiple measurements are recommended to diagnose the presence of hypertension.|HPO|N|
C0497248|A condition of high blood pressure without resulting clinical disorders.|NCI|N|
C0497327|A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior.|HPO|N|
C0497365|An area of irritated or swollen skin covering the entire surface of the skin.|SNOMEDCT_US|N|
C0497406|Increased body weight with a body mass index of 25-29.9 kg per square meter.|HPO|N|
C0497481|An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the penis.|HPO|N|
C0497538|A neoplasm that arises from the digestive system and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C0497549|A primary or metastatic malignant neoplasm involving the nervous system.|NCI|N|
C0497550|A neoplasm that arises from the nervous system and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C0497552|An abnormality of the nervous system.|HPO|N|
C0497556|A neoplasm that arises from the respiratory system and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C0514231|An indication or description that a subject physical examination test has occurred.|NCI|N|
C0516522|Evidence that the victim is no longer hurt or exploited|NOC|N|
C0516529|Protection of self and/or dependent others from abuse|NOC|N|
C0516541|Extent of healing of psychological injuries due to abuse|NOC|N|
C0516562|Extent of control of monetary and legal matters following financial exploitation|NOC|N|
C0516576|Extent of healing of physical injuries due to abuse|NOC|N|
C0516586|Extent of healing of physical and psychological injuries due to sexual abuse or exploitation|NOC|N|
C0516622|Personal actions to reconcile significant changes in health circumstances|NOC|N|
C0516638|Self-initiated actions to promote optimal wellness, recovery, and rehabilitation|NOC|N|
C0516800|Infant attachment to and sucking from the mother''s breast for nourishment during the first 3 weeks of breastfeeding|NOC|N|
C0516812|Maternal establishment of proper attachment of an infant to and sucking from the breast for nourishment during the first 3 weeks of breastfeeding|NOC|N|
C0516831|Continuation of breastfeeding from establishment to weaning for nourishment of an infant/toddler|NOC|N|
C0516847|Progressive discontinuation of breastfeeding of an infant/toddler|NOC|N|
C0516878|Adaptive response of family caregiver when the care recipient is moved to an institution|NOC|N|
C0516893|Emotional well-being of a family care provider while caring for a family member|NOC|N|
C0516907|Preparedness of a caregiver to assume responsibility for the health care of a family member in the home|NOC|N|
C0516927|Severity of disturbances in the lifestyle of a family member due to caregiving|NOC|N|
C0516941|Positive interactions and connections between the caregiver and care recipient|NOC|N|
C0516953|Caregiver actions to provide personal and health care services for an individual needing assistance|NOC|N|
C0516967|Caregiver actions to arrange and oversee required care for an individual needing assistance|NOC|N|
C0516976|Physical well-being of a family care provider while caring for a family member|NOC|N|
C0516981|An individual''s capacity to undertake physical activities, such as everyday tasks.|NCI|N|
C0516986|Severity of biopsychosocial pressure on a family care provider caring for another over an extended period of time|NOC|N|
C0517038|Milestones of physical, cognitive, and psychosocial progression by 2 months of age|NOC|N|
C0517050|Milestones of physical, cognitive, and psychosocial progression by 4 months of age|NOC|N|
C0517065|Milestones of physical, cognitive, and psychosocial progression by 6 months of age|NOC|N|
C0517081|Milestones of physical, cognitive, and psychosocial progression by 12 months of age|NOC|N|
C0517096|Milestones of physical, cognitive, and psychosocial progression by 2 years of age|NOC|N|
C0517114|Milestones of physical, cognitive, and psychosocial progression by 3 years of age|NOC|N|
C0517131|Milestones of physical, cognitive, and psychosocial progression by 4 years of age|NOC|N|
C0517192|Unobstructed, unidirectional blood flow at an appropriate pressure through large vessels of the systemic and pulmonary circuits|NOC|N|
C0517226|The general condition of one''s body.|NCI|N|
C0517393|Personal actions to adjust thoughts, feelings, and behaviors to actual or impending loss|NOC|N|
C0517416|Body weight at the age of record expressed as a percentile of other children''s body weight measures.|SNOMEDCT_US|N|
C0517417|Body weight for standing height at the age of record expressed as a percentile of other children''s body weight for height measures.|SNOMEDCT_US|N|
C0517436|Personal conviction that one can carry out a given health behavior|NOC|N|
C0517445|Personal conviction that one can influence a health outcome|NOC|N|
C0517453|Personal conviction that one has adequate means to carry out a health behavior|NOC|N|
C0517470|Personal conviction that a threatening health problem is serious and has potential negative consequences for lifestyle|NOC|N|
C0517483|Personal attitudes and commitment to health behaviors as lifestyle priorities|NOC|N|
C0517496|Personal actions to sustain or increase wellness|NOC|N|
C0517545|Severity of compromise in physiological functioning due to impaired physical mobility|NOC|N|
C0517559|Severity of compromise in psycho-cognitive functioning due to impaired physical mobility|NOC|N|
C0517602|Personal actions to obtain immunization to prevent a communicable disease|NOC|N|
C0517627|Severity of signs and symptoms of infection|NOC|N|
C0517669|Joint movement with assistance|NOC|N|
C0517671|Extent of understanding conveyed about lactation and nourishment of an infant through breastfeeding|NOC|N|
C0517724|Extent of understanding conveyed about a specific disease process and potential complications|NOC|N|
C0517736|Extent of understanding conveyed about energy conservation techniques|NOC|N|
C0517767|Extent of understanding conveyed about relevant health care resources|NOC|N|
C0517785|Extent of understanding conveyed about the safe use of medication|NOC|N|
C0517803|Extent of understanding conveyed about risk reduction and prevention of unintentional injuries to self|NOC|N|
C0517823|Extent of understanding conveyed about physical activity recommended by a health professional for a specific condition|NOC|N|
C0517835|Extent of understanding conveyed about controlling the use of addictive drugs, toxic chemicals, tobacco, or alcohol|NOC|N|
C0517852|The reason a procedure is performed.|NCI|N|
C0517861|Extent of understanding conveyed about a specific treatment regimen|NOC|N|
C0517934|Extent of physical, emotional, and spiritual healing following the cessation of substandard care|NOC|N|
C0517960|Arousal, orientation, and attention to the environment|NOC|N|
C0517961|Ability of the central nervous system to coordinate skeletal muscle activity for body movement|NOC|N|
C0517963|Ability of the autonomic nervous system to coordinate visceral and homeostatic functions|NOC|N|
C0517967|A description of the breathing cycle at a point in time, which is informed by the rate, depth, and regularity of respiration.|NCI|N|
C0517974|Adequacy of blood volume ejected from the left ventricle to support systemic perfusion pressure|NOC|N|
C0518012|Body fluid components and chemical indices of nutritional status|NOC|N|
C0518023|A measurement of the thickness of a pinch of skin situated below or on the underside of the scapula.|NCI|N|
C0518026|The amount of an individual''s total body mass that is fat, expressed as a percent.|NCI|N|
C0518030|Extent to which nutrients provide cellular energy|NOC|N|
C0518031|The ability to sustain an activity over a period of time.|NCI|N|
C0518036|Amount of food and fluid taken into the body over a 24-hour period|NOC|N|
C0518040|Nutrient intake to meet metabolic needs|NOC|N|
C0518072|Severity of observed or reported disruptive effects of chronic pain on daily functioning|NOC|N|
C0518087|Severity of observed or reported pain|NOC|N|
C0518170|Normal physiological changes that occur with the natural aging process|NOC|N|
C0518176|Normal physical changes in the female that occur with the transition from childhood to adulthood|NOC|N|
C0518179|Change in the sound and/or speed of the voice. Causes include laryngeal polyp, laryngitis, laryngeal carcinoma, throat carcinoma, Parkinson''s disease, multiple sclerosis, stroke, hypothyroidism, oral surgery, tracheostomy, tracheal injury, and laryngeal injury.|NCI|N|
C0518186|Normal physical changes in the male that occur with the transition from childhood to adulthood|NOC|N|
C0518192|Use of activities by a child to foster age-appropriate social and physical skills that are enjoyable and entertaining|NOC|N|
C0518214|The subjective measurement of an individual''s sense of well-being and ability to enjoy life. The concept holds varying meanings for different people and may evolve over time. For some individuals it implies autonomy, empowerment, capability, and choice; for others, security, social integration, or freedom from stress or illness.|NCI|N|
C0518226|Alveolar exchange of carbon dioxide and oxygen to maintain arterial blood gas concentrations|NOC|N|
C0518239|Movement of air in and out of the lungs|NOC|N|
C0518456|Limitations in an individual''s ability to maneuver in their physical environment.|NCI|N|
C0518458|Personal actions to prepare and ingest food and fluid independently with or without assistive device|NOC|N|
C0518459|Personal actions to dress self independently with or without assistive device|NOC|N|
C0518460|Personal actions to cleanse own body independently with or without assistive device|NOC|N|
C0518556|Personal actions to administer parenteral medications to meet therapeutic goals independently with or without assistive device|NOC|N|
C0518595|A relative measurement (percentage) of the time spent asleep (N1 sleep + N2 sleep + N3 sleep + REM sleep) to the total time spent in bed.|NCI|N|
C0518609|Careful thought or deliberation.|NCI|N|
C0518652|Severity of change in health status and social functioning due to substance addiction|NOC|N|
C0518656|Subjective feeling of tiredness characterized by a lack of energy and motivation that persists for six months or longer.|HPO|N|
C0518718|Structural intactness and normal physiological function of skin and mucous membranes|NOC|N|
C0518730|Adequacy of blood flow through the small vessels of the abdominal viscera to maintain organ function|NOC|N|
C0518741|Adequacy of blood flow through the coronary vasculature to maintain heart function|NOC|N|
C0518746|Adequacy of blood flow through the cerebral vasculature to maintain brain function|NOC|N|
C0518753|Adequacy of blood flow through the small vessels of the extremities to maintain tissue function|NOC|N|
C0518765|Adequacy of blood flow through pulmonary vasculature to perfuse alveoli/capillary unit|NOC|N|
C0518829|A term used to describe the state or condition of the completeness of the vital signs data.|NCI|N|
C0518842|Desire, determination, and effort to survive|NOC|N|
C0518851|Extent of regeneration of cells and tissues following intentional closure|NOC|N|
C0518863|Extent of regeneration of cells and tissues in an open wound|NOC|N|
C0518880|Extrauterine integration of physiological and behavioral function by the infant born 24 to 37 (term) weeks gestation|NOC|N|
C0518881|Severity of signs and symptoms of long-term anguish due to a distressing event, injury, or loss|NOC|N|
C0518885|Extent of understanding conveyed about the promotion and protection of health|NOC|N|
C0518959|A cardiac myxoma arising from the left atrium.|NCI|N|
C0518960|A cardiac myxoma arising from the right atrium.|NCI|N|
C0518988|A pocket of pus located within a region of a tooth.|HPO|N|
C0519030|An pneumonia caused by infection with Klebsiella.|MONDO|N|
C0519037|An extranodal lymphoma that arises from the colon. The majority are B-cell non-Hodgkin lymphomas.|NCI|N|
C0519063|Lung parenchymal involvement with lymphoma.|HPO|N|
C0519097|A severely scarred portion of infarcted ventricular myocardium that does not contract normally but instead bulges outward while the rest of the ventricle contracts during systole.|HPO|N|
C0520459|Inflammation of the intestine leading to bacterial invasion causing cellular damage and death which causes necrosis of the colon and intestine.|HPO|N|
C0520463|Chronic hepatitis associated with recurrent clinical exacerbations, extrahepatic manifestations, and progression to cirrhosis.|HPO|N|
C0520474|Necrosis of bone due to an inadequate blood supply.|NCI|N|
C0520477|Focal benign glandular hyperplasia in the prostate gland.|NCI|N|
C0520482|Disorders having the presence of physical symptoms that suggest a general medical condition but that are not fully explained by a another medical condition, by the direct effects of a substance, or by another mental disorder. The symptoms must cause clinically significant distress or impairment in social, occupational, or other areas of functioning. In contrast to factitious disorders and malingering, the physical symptoms are not under voluntary control. (apa, dsm-V)|MONDO|N|
C0520539|An episode of elevated blood pressure.|NCI|N|
C0520557|A benign vascular lesion characterized by the presence of a complex network of communicating arterial and venous vascular structures in the liver.|NCI|N|
C0520561|Bleeding from the small intestine.|HPO|N|
C0520564|An erosion of the mucous membrane in a portion of the ileum.|HPO|N|
C0520573|An area of fat accumulation at the back of the neck in the form of a hump.|HPO|N|
C0520575|Sudden onset pyelonephritis.|NCI|N|
C0520578|A testis that is located at the upper scrotum or lower inguinal canal and that can be made to descend completely into the scrotum without resistance by manual reduction but returns to its original position by the cremasteric reflex.|HPO|N|
C0520594|Tiny deposits of calcium in tissue. In the breast they can be seen using mammography, and if found in clusters may be indicative of breast cancer.|NCI|N|
C0520599|reduction of oxygen supply to tissues in newborns that is below physiological levels.|CSP|N|
C0520676|A condition in which a woman suffers from severe depression, irritability, and tension before MENSTRUATION. Premenstrual dysphoric disorder (PMDD) may involve a wide range of physical or emotional symptoms, which are more severe and debilitating than those seen with premenstrual syndrome (PMS), and which include at least one mood-related symptom. Symptoms usually stop when, or shortly after, menstruation begins.|MSH|N|
C0520677|A subtype of delusional disorder applied when no one delusional theme (such as grandiose, jealous, persecutory) predominates.|NCI|N|
C0520678|A rare gynecologic or obstetric disease characterized by an abrupt onset of psychiatric symptoms during the first weeks after childbirth. Clinical features include mood changes, depression, anxiety, delusions, and hallucinations, among others. The disease is associated with a risk of suicide or infanticide, as well as an increased risk for recurrence after the next pregnancy and future non-pregnancy related psychotic episodes.|ORDO|N|
C0520679|Obstructive sleep apnea is a common, chronic, complex disease associated with serious cardiovascular and neuropsychologic sequelae and with substantial social and economic costs (Palmer et al., 2003).|OMIM|N|
C0520680|Sleep apnea results from a temporary loss of the central drive to the muscles responsible for breathing.|HPO|N|
C0520683|The response people may have when presented with work demands and pressures that are not matched to their knowledge and abilities and which challenge their ability to cope.|MONDO|N|
C0520720|A cerebrospinal fluid-filled nerve root cyst most often localized in the sacral spine.|HPO|N|
C0520736|A type of hemolytic anemia in which the Coombs test is positive.|HPO|N|
C0520739|Hereditary pyropoikilocytosis was originally described by Zarkowsky et al. (1975) as a distinct hemolytic anemia characterized by microspherocytosis, poikilocytosis, and an unusual thermal sensitivity of red cells.
HPP is a subset of hereditary elliptocytosis (see 611804) due to homozygous or compound heterozygous mutations in spectrin leading to severe disruption of spectrin self-association (review by An and Mohandas, 2008).|OMIM|N|
C0520743|Swelling of lymph nodes within the mediastinum, the central compartment of the thoracic cavities that contains the heart and the great vessels, the esophagus, and trachea and other structures including lymph nodes.|HPO|N|
C0520744|Enlargement of lymph nodes surrounding the trachea.|HPO|N|
C0520753|The swallowing of an item not intended for consumption.|NCI|N|
C0520757|Abnormally slow pace of regaining CONSCIOUSNESS after general anesthesia (ANESTHESIA, GENERAL) usually given during surgical procedures. This condition is characterized by persistent somnolence.|MSH|N|
C0520760|Alteration of any condition or process in an offspring that results form the effect of a carcinogen in a parent.|NCI|N|
C0520779|A disease caused by infection with Neorickettsia sennetsu.|MONDO|N|
C0520793|Gastroenteritis resulting from an infection with cryptosporidium.|NCI|N|
C0520796|Gastroenteritis that is caused by Cryptosporidium.|NCI|N|
C0520823|Clonus is an involuntary tendon reflex that causes repeated flexion and extension of the foot. Knee clonus can be tested by rapidly pushing the patella towards the toes.|HPO|N|
C0520825|A type of dyspnea that occurs when the affected person changes from a recumbent to an upright position.|HPO|N|
C0520836|An increase in the fraction of the forced vital capacity that is exhaled in a specific number of seconds.|NCI|N|
C0520837|A decrease in the fraction of the forced vital capacity that is exhaled in a specific number of seconds.|NCI|N|
C0520842|An increase of the greatest rate of flow that can be achieved during forced expiration beginning with the lungs fully inflated.|NCI|N|
C0520843|Decreased expiratory peak flow measurement achieved during forced expiration that primarily reflects changes in upper airway conductance and may be of limited use in evaluation of changes in peripheral airway conductance. Evaluation of peak flow performance is subjective, and, therefore, acceptability criteria are lacking. Because the maneuver is effort and volume dependent, the patient must be encouraged to perform as vigorously as clinically feasible. The results of subjective evaluation may be difficult to interpret consistently. A validated dyspnea rating scale may be useful.|NCI|N|
C0520849|The measurement of the mean left arterial pressure, as measured by a catheter introduced into the distal pulmonary artery, is normal.|NCI|N|
C0520850|Pulmonary capillary wedge pressure (PCWP) above 15mmHg.|HPO|N|
C0520851|The measurement of the mean left pulmonary arterial pressure, as measured by a catheter introduced into the distal pulmonary artery, is low.|NCI|N|
C0520860|An anomaly of the jugular venous pressure. The internal jugular veins, being continuous with the superior vena cava, provide a visible measure of the degree to which the systemic venous reservoir is filled. The vertical height above the right atrium to which they are distended and above which they are in a collapsed state provides an imperfect reflection of the right atrial pressure.|HPO|N|
C0520861|Increased jugular venous pressure.|HPO|N|
C0520863|Impairment in the filling of the ventricles during diastole. Causes include hypertrophic and restrictive cardiomyopathies, coronary artery disease, chronic high blood pressure, aortic stenosis, and aging.|NCI|N|
C0520869|An elevated cardiac index, defined as cardiac output divided by body surface area.|HPO|N|
C0520870|A reduced cardiac index, defined as cardiac output divided by body surface area.|HPO|N|
C0520878|Reduced time for the PR interval (beginning of the P wave to the beginning of the QRS complex). In adults, normal values are 120 to 200 ms long.|HPO|N|
C0520886|An electrocardiographic anomaly in which the ST segment is observed to be located superior to the isoelectric line.|HPO|N|
C0520887|An electrocardiographic anomaly in which the ST segment is observed to be located inferior to the isoelectric line.|HPO|N|
C0520888|An inversion of the T-wave (which is normally positive).|HPO|N|
C0520893|A peeling off or loss of epidermis, as in sunburn, postscarlatinal peeling, or toxic epidermal necrolysis.|NCI|N|
C0520909|Emesis and queasiness occurring after anesthesia.|MSH|N|
C0520933|Incomplete maturation or aberrant formation of the male gametes.|HPO|N|
C0520938|Behavioral patterns and/or energy/activity levels that are statistically uncommon within a particular culture, maladaptive, and result in personal distress and impairment in the individual's functioning.|HPO|N|
C0520946|Heightened emotional reactivity to environmental stimuli, including the emotions of others.|HPO|N|
C0520958|Alien limb phenomenon refers to involuntary motor activity of a limb in conjunction with the feeling of estrangement from that limb.|HPO|N|
C0520983|A finding indicating decreased tissue sensitivity to a hormone.|NCI|N|
C0520999|An anomaly in the amount of force per unit area exerted by the intraocular fluid within the eye.|HPO|N|
C0521007|The inability to produce speech sounds at normal volume.|NCI|N|
C0521114|Present in 5% to 29% of the cases.|HPO|N|
C0521157|A term referring to the presence of tumor emboli or tumor masses within any circulatory vessel.|NCI|N|
C0521158|The reemergence of a neoplasm after a period of remission.|NCI|N|
C0521169|Compression-induced traumatic break, and resulting collapse, of a short bone.|NCI|N|
C0521170|A pathologic bone fracture due to osteoporosis. It is generally caused by a fall from a standing height or lower and usually involves the spine, hip, or wrist.|NCI|N|
C0521173|A granulomatous inflammation leading to multiple granuloma formation, which is a specific type of inflammation. A granuloma is a focal compact collection of inflammatory cells, mononuclear cells predominating, usually as a result of the persistence of a non-degradable product and of active cell mediated hypersensitivity.|HPO|N|
C0521176|The tumor cells that form the Flexner-Wintersteiner rosette circumscribe a central lumen that contains small cytoplasmic extensions of the encircling cells; however, unlike the center of the Homer Wright rosette, the central lumen does not contain the fiber-rich neuropil.|HPO|N|
C0521177|A type of rosette in which the central lumen or hub is filled with fiber-like processes.|HPO|N|
C0521178|Intracellular aggregates of actin and actin-associated proteins within nerve cells.|HPO|N|
C0521195|Localized formation of fibrous tissue.|NCI|N|
C0521471|A rash associated with systemic lupus erythematosus.|NCI|N|
C0521525|Diminished length of the neck.|HPO|N|
C0521530|A chest X-ray finding indicating the presence of a radio-opaque area in the lung. The opacification is caused by fluid or solid material within the airways or lung parenchyma.|NCI|N|
C0521532|A decrease in the strength of the diaphragm.|HPO|N|
C0521533|A rare congenital non-syndromic heart malformation characterized by an abnormal protrusion of the interatrial septum into the right or left atrium, or both, during the cardiorespiratory cycle. The defect may be limited to the fossa ovalis or involve the entire septum. It can present as an isolated finding but is more often associated with interatrial shunts, in particular patent foramen ovale. Clinically it increases the risk of peripheral arterial embolism and stroke.|ORPHANET|N|
C0521542|Infarctions that occur in the brain stem which is comprised of the midbrain; pons; and medulla oblongata. There are several named syndromes characterized by their distinctive clinical manifestations and specific sites of ischemic injury.|MONDO|N|
C0521549|A benign vascular lesion characterized by the presence of a complex network of communicating arterial and venous vascular structures in the gastrointestinal tract.|NCI|N|
C0521556|A congenital abnormality in the sacral region of the spine in which the meninges protrude through a defect in the spinal column.|NCI|N|
C0521570|A rare neurovascular malformation characterized by a unilateral, direct communication between the arterial and venous system in the retina via abnormal, enlarged vessels, but without interposed capillaries. The inferotemporal vasculature is most commonly affected. Patients may be asymptomatic or present with variable degrees of visual loss. Local vascular complications include vascular occlusions or retinal or vitreous hemorrhages. The anomaly may occur in isolation or as part of Wyburn-Mason syndrome, in which intracranial (usually ipsilateral) arteriovenous malformations are present.|ORDO|N|
C0521573|A short discontinuity of the margin of the lower or upper eyelid.|HPO|N|
C0521574|An eyelash that emerges from the underside (conjunctiva) of the upper or lower eyelid.|HPO|N|
C0521585|Inflammation of the mucous membranes lining the gastrointestinal tract.|NCI|N|
C0521587|A narrowing or stricture within the digestive system.|NCI|N|
C0521595|Bleeding originating from the duodenum.|NCI|N|
C0521596|Bleeding originating from the jejunal wall.|NCI|N|
C0521597|Bleeding originating from the ileal wall.|NCI|N|
C0521604|An diarrhea (disease) involving a pathogenic inflammatory response in the intestinal mucosa.|MONDO|N|
C0521607|Disorder characterized by a wide range of structural changes in PERITONEUM, resulting from fibrogenic or inflammatory processes. Peritoneal fibrosis is a common complication in patients receiving PERITONEAL DIALYSIS and contributes to its gradual decrease in efficiency.|MSH|N|
C0521610|Cholecystitis resulting from infection by gas producing organisms.|NCI|N|
C0521613|Bleeding originating from the pancreas.|NCI|N|
C0521615|Obstruction of the pancreatic duct leading to swelling of the pancreas as a whole|SNOMEDCT_US|N|
C0521616|A drug-induced photodermatosis characterized by skin fragility, erythema, and the appearance of tense bullae, erosions and scarring in the absence of abnormalities in porphyrin metabolism.|NCI|N|
C0521618|The presence of a stenotic, i.e., constricted ureter.|HPO|N|
C0521619|Blockage of urine flow from the renal pelvis to the proximal ureter.|HPO|N|
C0521620|The distention of the ureter with urine.|HPO|N|
C0521621|A single cyst in the kidney with several compartments.|NCI|N|
C0521624|A syndrome characterized by abnormal secretion of renin in conjunction with neoplastic growth occurring anywhere in the body.|NCI|N|
C0521631|A collection of pus within a testicle. Ultrasonographic features include shaggy, irregular walls, intratesticular location, low-level internal echoes, and occasionally, hypervascular margins.|HPO|N|
C0521647|Apnea occurring during the neonatal period.|NCI|N|
C0521654|Loss of movement function.|NCI|N|
C0521655|A disease or disorder that involves the midbrain.|MONDO|N|
C0521668|Severe head pain with sudden onset, reaching its maximum intensity in less than one minute and lasting from one hour to ten days.|HPO|N|
C0521694|Well-demarcated area(s) of partial or complete depigmentation in the fundus, reflecting atrophy of the retinal pigment epithelium with associated retinal photoreceptor loss.|HPO|N|
C0521701|Eversion of the margin of the pupil|SNOMEDCT_US|N|
C0521707|Partial or complete opacity of the crystalline lens of both eyes that decreases visual acuity and eventually results in blindness. Some cataracts appear in infancy or in childhood, but most develop in older individuals. (Sternberg Diagnostic Surgical Pathology, 3rd ed.)|NCI|N|
C0521723|Epithelial basement membrane corneal dystrophy (EBMD) is a common bilateral epithelial dystrophy characterized mainly by sheet-like areas of basement membrane originating from the basal epithelial cells of the corneal epithelium and extending superficially into the epithelium. Slit lamp examination may reveal dots, maps, grayish epithelial fingerprint lines, blebs, nets, or any combination of these patterns. Histologic analysis shows abnormal redundant basement membrane and intraepithelial lacunae filled with cellular debris. Most patients are asymptomatic before the age of 30 years; some may have recurrent erosions, the frequency of which declines with age, and a loss of vision due to surface irregularity (summary by Boutboul et al., 2006).|OMIM|N|
C0521731|An inward turning (inversion) of the margin of the upper eyelid.|HPO|N|
C0521744|A disease or disorder that involves the nasolacrimal duct.|MONDO|N|
C0521770|The presence of small, white vitreous opacities consisting of calcium phosphate and complex, layered lipid deposits.|HPO|N|
C0521785|Partial or complete hearing loss in one ear.|MSH|N|
C0521786|Partial or complete loss of the ability to detect or understand sounds present in an infant within its first month after birth.|NCI|N|
C0521787|A type of tinnitus that presents as clicks, resembling the noise made by the snapping together of 2 fingers.|HPO|N|
C0521794|A syndrome characterized by abnormal secretion of growth hormone in conjunction with neoplastic growth occurring anywhere in the body.|NCI|N|
C0521795|A syndrome characterized by abnormal secretion of prolactin in conjunction with neoplastic growth occurring anywhere in the body.|NCI|N|
C0521797|A syndrome characterized by abnormal secretion of aldosterone in conjunction with neoplastic growth occurring anywhere in the body.|NCI|N|
C0521799|A syndrome characterized by abnormal secretion of calcitonin in conjunction with neoplastic growth occurring anywhere in the body.|NCI|N|
C0521800|Generalized bluish discoloration of the body and the visible mucous membranes, which occurs due to inadequate oxygenation secondary to conditions that lead to an increase in deoxygenated hemoglobin or presence of abnormal hemoglobin.|HPO|N|
C0521802|Absence of transferrin, a protein that transports iron, in the blood.|HPO|N|
C0521829|bacterial, viral, or parasitic diseases transmitted to humans and animals by infected arthropods, including ticks.|CSP|N|
C0521831|Infectious diseases transmitted by mosquito vectors. Mosquito-borne human viral diseases include Chikungunya, Dengue, viral encephalitis (e.g., Japanese and St. Louis types), West Nile, Yellow fever, Zika virus infections. Mosquito-borne human parasitic diseases include malaria and lymphatic filariasis. Equine encephalomyelitis and dirofilariasis are mosquito-borne viral diseases mostly in animals.|MSH|N|
C0521874|Child or adult deprived of minimally accepted standards of food, shelter, clothing, or care.|OMS|N|
C0521987|A health condition or medical problem that was diagnosed or treated before a specific date.|NCI|N|
C0521989|The signs and symptoms present with the chief complaint.|NCI|N|
C0522035|An abnormal accumulation of fluid beneath the skin of the arms.|HPO|N|
C0522055|Abnormal rhythm of the heart.|HPO|N|
C0522067|A painful sensation in the liver.|NCI|N|
C0522073|Low level of blood oxygen induced by changing from a recumbent to an upright position.|HPO|N|
C0522083|A finding that either fasting or postprandial blood glucose levels are above or below the normal thresholds.|NCI|N|
C0522129|Presence of erythrocyte casts (cylindrical structures produced by the kidney in certain disease states) in the urine.|HPO|N|
C0522153|An abnormal color of the urine, that is, the color of the urine appears different from the usual straw-yellow color.|HPO|N|
C0522157|Co-existence of an intrauterine pregnancy with an intrauterine device.|NCI|N|
C0522174|An act by a minor that is punishable by law.|NCI|N|
C0522179|Vague, uneasy feeling of discomfort or dread generated by perceptions of a real or imagined threat to one''s existence.|NANDA-I|N|
C0522182|A specific phobia that involves an irrational fear of contracting a disease.|MONDO|N|
C0522214|An anomaly of visually evoked potentials (VEP), which are electrical potentials, initiated by brief visual stimuli, which are recorded from the scalp overlying the visual cortex.|HPO|N|
C0522216|An abnormality of the auditory evoked potentials, which are used to trace the signal generated by a sound, from the cochlear nerve, through the lateral lemniscus, to the medial geniculate nucleus, and to the cortex.|HPO|N|
C0522224|Paralysis of voluntary muscles means loss of contraction due to interruption of one or more motor pathways from the brain to the muscle fibers. Although the word paralysis is often used interchangeably to mean either complete or partial loss of muscle strength, it is preferable to use paralysis or plegia for complete or severe loss of muscle strength, and paresis for partial or slight loss. Motor paralysis results from deficits of the upper motor neurons (corticospinal, corticobulbar, or subcorticospinal). Motor paralysis is often accompanied by an impairment in the facility of movement.|HPO|N|
C0522251|Painful sensation in the face, between the eyes, or upper teeth originating from the sinuses. It is usually caused by sinus infections.|NCI|N|
C0522253|Headache triggered by exercise.|NCI|N|
C0522274|A broad classification of disorders where circulating numbers of B lymphocytes are decreased or ineffective. Complement components and the production of antibodies may also be deficient.|NCI|N|
C0522353|Dizziness experienced on lying down.|SNOMEDCT_US|N|
C0522357|Paroxysmal episodes of vertigo.|HPO|N|
C0522624|Subcutaneous panniculitis-like T-cell lymphoma (SPTCL) is an uncommon form of T-cell non-Hodgkin lymphoma in which cytotoxic CD8 (see 186910)+ T cells infiltrate adipose tissue forming subcutaneous nodules. Both children and adults can be affected, with a median age at diagnosis of 36 years and a female gender bias. Most patients have accompanying systemic features such as fever or flank pain. A subset (about 20%) of patients develop hemophagocytic lymphohistiocytosis (HLH), usually associated with CD8+ T cells rimming adipocytes in the bone marrow. An infectious agent is not identified, and the disorder is believed to result from improperly activated inflammation. Immunosuppressive therapy may be helpful; hematopoietic bone marrow transplantation is usually curative (summary by Gayden et al., 2018).
For a general discussion of genetic heterogeneity of HLH, see HLH1 (267700).|OMIM|N|
C0522631|A rare subtype of acute myeloid leukemia characterized by clonal proliferation of poorly differentiated myeloid blasts in the bone marrow, blood or other tissues. It usually presents with anemia, thrombocytopenia and other nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly). Low remission rates are reported.|ORDO|N|
C0524524|Mutation in the CRYGS gene has been identified in multiple types of cataract, which have been described as progressive polymorphic anterior, posterior, peripheral cortical, sutural, and lamellar.|OMIM|N|
C0524528|A category of developmental disorders characterized by impaired communication and socialization skills. The impairments are incongruent with the individual''s developmental level or mental age. These disorders can be associated with general medical or genetic conditions.|NCI|N|
C0524541|A benign or malignant neoplasm that affects the placenta. Representative examples include hemangioma and choriocarcinoma.|NCI|N|
C0524582|Mulibrey nanism (MUL) is a rare autosomal recessive growth disorder with prenatal onset, including occasional progressive cardiomyopathy, characteristic facial features, failure of sexual maturation, insulin resistance with type 2 diabetes, and an increased risk for Wilms tumor (summary by Hamalainen et al., 2006).|OMIM|N|
C0524662|Addiction to opioids.|HPO|N|
C0524688|A plague in which the bacteria have infected the lungs.|MONDO|N|
C0524702|Pulmonary embolism is caused by emboli, which have originated from venous thrombi, traveling to and occluding the arteries of the lung.|HPO|N|
C0524784|A complication after CHOLEDOCHODUODENOSTOMY when food, stones, or other debris accumulate in the common bile duct.|MSH|N|
C0524799|A lung with reduced markings on its chest radiograph and increased areas of transradiancy (hyperlucency). A hyperlucent lung is usually associated with pulmonary emphysema or pneumothorax.|MONDO|N|
C0524801|A tumor (abnormal growth of tissue) of the retina.|HPO|N|
C0524802|A benign or malignant neoplasm that affects the optic nerve. Clinical features may include visual loss, proptosis, and local pain. The majority of optic nerve neoplasms are gliomas.|NCI|N|
C0524812|Reduction of cerebrospinal fluid pressure characterized clinically by headache which is maximal in an upright posture and occasionally by an abducens nerve palsy (see abducens nerve diseases), neck stiffness, hearing loss (see deafness); nausea; and other symptoms. This condition may be spontaneous or secondary to spinal puncture; neurosurgical procedures; dehydration; uremia; trauma (see also craniocerebral trauma); and other processes. Chronic hypotension may be associated with subdural hematomas (see hematoma, subdural) or hygromas. (From Semin Neurol 1996 Mar;16(1):5-10; Adams et al., Principles of Neurology, 6th ed, pp637-8)|MONDO|N|
C0524851|Hereditary and sporadic conditions which are characterized by progressive nervous system dysfunction. These disorders are often associated with atrophy of the affected central or peripheral nervous system structures.|MSH|N|
C0524894|An increased number of contiguous trinucleotide repeats in the DNA sequence from one generation to the next. The presence of these regions is associated with diseases such as FRAGILE X SYNDROME and MYOTONIC DYSTROPHY. Some CHROMOSOME FRAGILE SITES are composed of sequences where trinucleotide repeat expansion occurs.|MSH|N|
C0524909|Chronic form of hepatitis B infection.|MONDO|N|
C0524910|INFLAMMATION of the LIVER in humans that is caused by HEPATITIS C VIRUS lasting six months or more. Chronic hepatitis C can lead to LIVER CIRRHOSIS.|MSH|N|
C0524911|INFLAMMATION of the LIVER in humans caused by HEPATITIS DELTA VIRUS in conjunction with HEPATITIS B VIRUS and lasting six months or more.|MSH|N|
C0524948|Congenital structural deformities, malformations, or other abnormalities of the maxilla and face or facial bones.|MSH|N|
C0524988|Schnitzler syndrome is a rare, underdiagnosed disorder in adults characterized by recurrent febrile rash, bone and/or joint pain, enlarged lymph nodes, fatigue, a monoclonal IgM component, leukocytosis and systemic inflammatory response.|ORDO|N|
C0525041|Signs and symptoms of higher cortical dysfunction caused by organic conditions. These include certain behavioral alterations and impairments of skills involved in the acquisition, processing, and utilization of knowledge or information.|MSH|N|
C0525042|Mental disorders related to feeding and eating usually diagnosed in infancy or early childhood.|MSH|N|
C0525043|Markedly disturbed and developmentally inappropriate social relatedness that begins before age 5 and is associated with grossly pathological child care. The child may persistently fail to initiate and respond to social interactions in a developmentally appropriate way (inhibited type) or there may be a pattern of diffuse attachments with nondiscriminate sociability (disinhibited type). (From DSM-V)|MSH|N|
C0525045|A category of psychiatric disorders which have as their most predominant feature a disturbance in mood.|NCI|N|
C0525046|Marked disorders of thought (delusions, hallucinations, or other thought disorder accompanied by disordered affect or behavior), and deterioration from a previous level of functioning. Individuals have one o more of the following symptoms: delusions, hallucinations, and disorganized speech. (from DSM-5)|MSH|N|
C0525047|Mental disorders related to sexual dysfunction, paraphilias, and gender identity disorders.|MSH|N|
C0541403|A disease or disorder that affects the neuroendocrine gland, any of the organized aggregations of cells that function as secretory or excretory organs and that release hormones in response to neural stimuli.|MONDO|N|
C0541435|An injury that results in paralysis of the muscles of the shoulder, arm, and hand. It manifests as lack of mobility in the arm. In the majority of cases there is spontaneous recovery.|NCI|N|
C0541719|Polycythemia that is caused by stress.|NCI|N|
C0541754|An abscess not caused by infection with pyogenic bacteria. Operationally, a sterile abscess is inferred if investigations of an abscess fail to reveal evidence of pathogenic organisms.|HPO|N|
C0541764|A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.|HPO|N|
C0541767|An abnormality in the rate and degree to which platelets aggregate after the addition of an agonist that stimulates platelet clumping. Platelet aggregation is measured using aggregometer to measure the optical density of platelet-rich plasma, whereby platelet aggregation causes the plasma to become more transparent.|HPO|N|
C0541782|Atrial standstill or silent atrium is a rare condition presenting with the absence of electrical and mechanical activity in the atria. It presents with the absence of P waves, bradycardia, and wide QRS complex in the electrocardiogram.|HPO|N|
C0541794|The presence of skeletal muscular atrophy (which is also known as amyotrophy).|HPO|N|
C0541796|A finding of significant hearing loss documented with audiometric testing.|NCI|N|
C0541798|A type of insomnia characterized by waking up too early in the morning is known as early morning awakening. The termination of sleep must occur at least 30 minutes before the desired time.|HPO|N|
C0541912|A carcinoma that arises from the duodenum. The vast majority of cases are adenocarcinomas.|NCI|N|
C0542028|A general term that refers to hyperplastic proliferations of the epithelial cells in the breast parenchyma. Examples include atypical ductal hyperplasia, usual ductal hyperplasia, columnar cell hyperplasia, and atypical lobular hyperplasia.|NCI|N|
C0542035|Decreased count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow.|HPO|N|
C0542037|An decrease in the level of triglycerides in the blood.|HPO|N|
C0542044|Unintelligibility of verbal or written communication due to a lack of clarity or connectedness.|NCI|N|
C0542117|A non-congenital, benign vascular lesion with a central punctum (arteriole) that is surrounded by thin-walled capillaries in a radial pattern. It occurs as the result of the dilatation of pre-existing vessels and is most often an incidental finding. The lesion may also be found in association with hypermetabolic states or chronic disease.|NCI|N|
C0542118|A type of telangiectasia, comprised of a central red spot with radiating, red extensions, that is present at the time of birth.|NCI|N|
C0542127|A level of sedation that is greater than the intended level.|NCI|N|
C0542132|A painful sensation in the distal thigh area.|NCI|N|
C0542142|Paralysis of the recurrent laryngeal nerve. Causes include surgical and non-surgical traumas, neoplasms (e.g., lung carcinoma), and inflammatory neuritis.|NCI|N|
C0542147|A rupture in the jejunal wall due to traumatic or pathologic processes.|NCI|N|
C0542237|Thrombophlebitis in the veins surrounding an injection site.|NCI|N|
C0542241|The condition resulting from the spread of bacterial products (toxins) by the bloodstream.|NCI|N|
C0542259|A morphological abnormality of the vestibule, the central part of the osseous labyrinth that is situated medial to the tympanic cavity, behind the cochlea, and in front of the semicircular canals.|HPO|N|
C0542404|Narrowing or stricture of the bladder neck.|NCI|N|
C0542428|Affected infants have short arms and legs, a small chest with short ribs, and underdeveloped lungs.  Bones in the skull develop normally, but the bones of the spine (vertebrae) and pelvis do not harden (ossify) properly.   The face appears flat and oval-shaped, with widely spaced eyes, a small chin, and, in some cases, an opening in the roof of the mouth called a cleft palate.  Individuals with hypochondrogenesis have an enlarged abdomen and may have a condition called hydrops fetalis in which excess fluid builds up in the body before birth.\n\nAs a result of these serious health problems, some affected fetuses do not survive to term.  Infants born with hypochondrogenesis usually die at birth or shortly thereafter from respiratory failure.  Babies who live past the newborn period are usually reclassified as having spondyloepiphyseal dysplasia congenita, a related but milder disorder that similarly affects bone development.\n\nHypochondrogenesis is a rare, severe disorder of bone growth.  This condition is characterized by a small body, short limbs, and abnormal bone formation (ossification) in the spine and pelvis.|MedlinePlus Genetics|N|
C0542511|A sarcoma that arises from tooth-forming tissues.|NCI|N|
C0542514|An abnormal bluish coloration of the sclera.|HPO|N|
C0542518|An abnormal increase in the size of the kidney.|HPO|N|
C0542519|Agenesis, that is, failure of the kidney to develop during embryogenesis and development.|HPO|N|
C0542564|A meningioma that affects the cerebral hemispheres.|NCI|N|
C0542571|Swelling due to an excessive accumulation of fluid in facial tissues.|NCI|N|
C0543419|A pathologic condition that results from a disease, treatment, or injury.|NCI|N|
C0543478|Tumor cells that remain in the body following cancer treatment.|NCI|N|
C0543514|Phosphorylase kinase (PhK) deficiency causing glycogen storage disease type IX (GSD IX) results from deficiency of the enzyme phosphorylase b kinase, which has a major regulatory role in the breakdown of glycogen. The two types of PhK deficiency are liver PhK deficiency (characterized by early childhood onset of hepatomegaly and growth restriction, and often, but not always, fasting ketosis and hypoglycemia) and muscle PhK deficiency, which is considerably rarer (characterized by any of the following: exercise intolerance, myalgia, muscle cramps, myoglobinuria, and progressive muscle weakness). While symptoms and biochemical abnormalities of liver PhK deficiency were thought to improve with age, it is becoming evident that affected individuals need to be monitored for long-term complications such as liver fibrosis and cirrhosis.|GeneReviews|N|
C0543541|The imino acids, proline and hydroxyproline, share a renal tubular reabsorptive mechanism with glycine. Iminoglycinuria (IG; 242600), a benign inborn error of amino acid transport, is also a normal finding in neonates and infants under 6 months of age (Chesney, 2001). Early studies of families with iminoglycinuria suggested genetic complexity, with homozygotes developing IG and heterozygotes manifesting only hyperglycinuria (HG) (summary by Broer et al., 2008).
A phenotype of combined glucosuria and glycinuria has been described (see 138070).|OMIM|N|
C0543669|A rare, genetic, immune disease characterized by chronic neutrophilia, increase in the percentage of circulating CD34+ cells in peripheral blood, increase in granulocyte precursors in bone marrow and splenomegaly. Patients are predominantly asymptomatic, but may present with systemic inflammatory response syndrome with fever, dyspnea, tachycardia, pleural and pericardial effusion, or myelodysplastic syndrome.|ORDO|N|
C0543693|A condition characterized by a decrease in the number of neutrophils in the blood below established reference ranges in a newborn.|NCI|N|
C0543800|A rare renal disease characterized by persistent excess urinary calcium excretion in the absence of an underlying systemic disease and hypercalcemia. The condition leads to an increased risk for the formation of kidney stones and nephrocalcinosis, as well as reduced bone mineral density with increased incidence of fractures in some patients.|ORDO|N|
C0543816|Cardiocutaneous syndromes are those in which phenotypic manifestations occur in the heart, skin, and/or hair. Variation in the genes of interest may occur in both an autosomal dominant inheritance pattern and autosomal recessive, which may lead to earlier and/or more severe phenotypic presentation.|MONDO|N|
C0543820|A rare neurologic disease characterized by intermittent pain, erythema, swelling, and heat of the extremities which is aggravated by warming and improved by cooling. Attacks can last between minutes and days and tend to be precipitated by heat, exercise, or physical dependence. The disease may be linked to a variety of underlying conditions including hematological, metabolic, connective tissue or neurological disorders, neoplasia, infections, and certain drug side effects, among others.|ORPHANET|N|
C0543859|Amyotrophic lateral sclerosis-parkinsonism/dementia complex of Guam is a neurodegenerative disorder with unusually high incidence among the Chamorro people of Guam. Both ALS and parkinsonism-dementia are chronic, progressive, and uniformly fatal disorders in this population. Both diseases are known to occur in the same kindred, the same sibship, and even the same individual.
See PARK7 (606324) for discussion of a similar phenotype caused by mutation in the DJ1 gene (602533).|OMIM|N|
C0543874|Congenital oculomotor apraxia, first reported by Cogan (1952), is characterized by (1) defective or absent horizontal voluntary eye movements, and (2) defective or absent horizontal ocular attraction movements.
Oculomotor apraxia occurs in ataxia-telangiectasia (208900). Also see ataxia-oculomotor apraxia syndrome (208920; 606002). Oculomotor apraxia has been observed in the neuronopathic form of Gaucher disease (type III; 231000) (Erikson and Wahlberg, 1985; Gross-Tsur et al., 1989).|OMIM|N|
C0543888|A condition in which epileptiform abnormalities are believed to contribute to the progressive disturbance in cerebral function. Epileptic encephalaopathy is characterized by (1) electrographic EEG paroxysmal activity that is often aggressive, (2) seizures that are usually multiform and intractable, (3) cognitive, behavioral and neurological deficits that may be relentless, and (4) sometimes early death.|HPO|N|
C0543918|A schizophrenia that has material basis in an autosomal dominant mutation of SCZD10 on chromosome 15q15.|MONDO|N|
C0543968|Retinal phenotype characterized by cone photoreceptor dysfunction and preserved rod system. The abnormality is typically stationary or very slowly progressive and findings may include reduced central vision, color vision abnormalities, nystagmus and photophobia.|HPO|N|
C0544008|A rare disorder of the eye in which the endothelium lining the interior of the cornea proliferates causing unusually high pressure in the eye, distortion of the iris and corneal edema.|SNOMEDCT_US|N|
C0544452|A decrease in or disappearance of signs and symptoms typically associated with a disease course.|HPO|N|
C0544617|Shock resulting from neurogenic vasodilation, which can be produced by cerebral trauma or hemorrhage, spinal cord injury, deep general or spinal anesthesia, or toxic central nervous system depression.|NCI|N|
C0544645|A focal sensory seizure is a type seizure beginning with a subjective sensation.|HPO|N|
C0544726|An aperture or hollow space within a solid mass|NCI|N|
C0544755|A positional abnormality marked by outward bowing of the legs in which the knees stay wide apart when a person stands with the feet and ankles together.|HPO|N|
C0544756|The development of dilated terminal airspaces in the lung adjacent to parenchymal scarring.|NCI|N|
C0544796|A rapidly growing, poorly circumscribed, mass-forming proliferation that arises from the skeletal muscle. It is characterized by the presence of spindle-shaped fibroblasts, round ganglion-like cells, myxoid to collagenous stroma formation, and high mitotic activity. It recurs only rarely following local excision and does not metastasize.|NCI|N|
C0544815|A histopathological form of portosinusoidal vascular disease characterized by the presence of incomplete, thin, perforated, or blind-ended septa, which intermittently delimit rudimentary nodules, although complete cirrhotic-type regenerative nodules are not seen. Isolated collagen bundles can also be observed within the parenchyma.|ORDO|N|
C0544839|Macular amyloidosis (MA) is a rare chronic form of cutaneous amyloidosis (see this term), a skin disease characterized by the accumulation of amyloid deposits in the dermis, clinically characterized by pruritic hyperkeratotic gray-brown macules that give a rippled or reticulated pattern of pigmentation usually in the upper back and extensor sites of arms, forearms and legs, and histologically by the deposition of amyloid in the upper dermis and close to the basal cell layer of the epidermis. MA is commonly associated with other skin diseases, such as atopic dermatitis.|ORDO|N|
C0544840|Nodular localized form of amyloidosis with predominantly thoracic localization (pulmonary amyloidosis), considered as secondary protein structure disease in which insoluble protein fibrils accumulate extracellularly. The form of primary amyloid in amyloidoma is characterized by abnormal deposition of light chain proteins composed of monoclonal immunoglobulin. Pulmonary amyloidomas are rare and are often found incidentally as solitary or multiple calcified nodules and masses on chest radiographs in asymptomatic elderly patients. Cavitation is rare, the prognosis is good.|NCI|N|
C0544855|Any inherited isolated nail anomaly in which the cause of the disease is a mutation in the PLCD1 gene.|MONDO|N|
C0544857|A digit with two nails, with at least some soft tissue between them.|HPO|N|
C0544862|Neurocutaneous melanosis, or neuromelanosis, is characterized by the presence of melanin-producing cells within the brain parenchyma or leptomeninges, which may lead to clinically apparent neurologic signs and symptoms, such as seizures. Other neurologic abnormalities, including hydrocephalus, arachnoid cysts, tumors, and syringomyelia, may also occur. The disorder is a rare but severe manifestation of congenital melanocytic nevus syndrome (CMNS; 137550). Some patients with neurocutaneous melanosis or CMNS may develop malignant melanoma. The incidence of neurologic involvement, development of malignant melanoma, and death is significantly associated with the projected adult size of the largest congenital melanocytic nevus, particularly those greater than 40 cm (summary by Kinsler et al., 2008; Kinsler et al., 2013).|OMIM|N|
C0544885|A point mutation occurring within the protein-coding region of a gene, and which codes for a stop that can truncate the protein.|NCI|N|
C0544886|Any mutation with an origin in cells that are not destined to become gametes. As a consequence, such mutations are not transmitted to progeny, though they will be transmitted during any mitosis within the individual. Somatic mutations may contribute to a broad variety of pathologies including cancer.|NCI|N|
C0544919|A microscopic finding indicating the presence of intracytoplasmic changes in reactive, atypical, dysplastic, or neoplastic cells.|NCI|N|
C0544955|Any cytoskeletal process involving microtubule structures and their associated proteins.|NCI|N|
C0544958|Cell Membrane Alteration consists of a change in the quality of the existing state of activities involved in the composition, fabrication, construction, or maintenance of the regular structure and function of semipermeable lipid bilayer membranes that surround or reside within a cell.|NCI|N|
C0544966|The lysosomal-vacuolar pathway has a role in the controlled intracellular digestion of macromolecules such as protein complexes and organelles. This feature refers to the presence of an abnormally increased number of autophagic vacuoles in muscle tissue.|HPO|N|
C0545044|A developmental disorder characterized by keratotic papules of skin of hands and soles with disorganization of dermal elastic fibers that does not appear to be due to trauma or sunlight.|SNOMEDCT_US|N|
C0545053|An abnormally increased rate of skeletal maturation. Accelerated skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.|HPO|N|
C0545071|A melanocytic neoplasm displaying morphologic features that are intermediate between those of benign nevus and melanoma. It is characterized by a nodular architectural growth resembling a melanoma, and a loss of nevus cell maturation. The melanocytic cells forming the nodular growth are uniform, and they may display a high mitotic rate, but they do not show cytologic atypia.|NCI|N|
C0545074|Myxoid/round cell liposarcoma (MRCLS) is a type of liposarcoma (LS; see this term) mostly located in the limbs, with a variable behavior depending on the histological subtype. Both myxoid and round cell are distinct histological subtypes of LS.|ORDO|N|
C0545080|A rare lymphoma with concurrent occurrence of two or more histologic types of lymphoma involving the same anatomic site. Composite lymphomas can be combinations of two non-Hodgkin lymphomas or of a non-Hodgkin and a Hodgkin lymphoma. In many cases, the neoplasms are clonally related. Clinical presentation and treatment are determined by the more aggressive component.|SNOMEDCT_US|N|
C0545617|The presence of more than the normal number of metacarpal bones.|HPO|N|
C0546123|A rapidly progressive type of nemaline myopathy (NM) characterized by a very late onset.|ORDO|N|
C0546125|A type of nemaline myopathy with characteristics of distal muscle weakness and sometimes slowness of muscle contraction. Onset is around 10 years of age, with initial presentation of symmetric weakness of ankle dorsiflexion and foot drop, or a general slowness of muscle contraction. All movements at the ankle and more proximal limb muscles may be disturbed. Weakness is slowly progressive. Facial, respiratory and cardiac muscles are generally normal, but patients are unable to jump or run because of muscle weakness or slowness. This form of nemaline myopathy is caused by mutations in the ACTA1 (1q42.13), NEB (2q22), TPM2 (9p13.3) or TPM3 (1q21.2) genes. Transmission follows an autosomal dominant pattern.|SNOMEDCT_US|N|
C0546256|A surgically created external opening into the stomach.|NCI|N|
C0546258|A surgically created external opening into the renal pelvis.|NCI|N|
C0546259|A surgically created external opening into the trachea.|NCI|N|
C0546264|Congenital fiber-type disproportion is a condition that primarily affects skeletal muscles, which are muscles used for movement. People with this condition typically experience muscle weakness (myopathy), particularly in the muscles of the shoulders, upper arms, hips, and thighs. Weakness can also affect the muscles of the face and muscles that control eye movement (ophthalmoplegia), sometimes causing droopy eyelids (ptosis). Individuals with congenital fiber-type disproportion generally have a long face, a high arch in the roof of the mouth (high-arched palate), and crowded teeth.\n\nIndividuals with congenital fiber-type disproportion may have joint deformities (contractures) and an abnormally curved lower back (lordosis) or a spine that curves to the side (scoliosis). Approximately 30 percent of people with this disorder experience mild to severe breathing problems related to weakness of muscles needed for breathing. Some people who experience these breathing problems require use of a machine to help regulate their breathing at night (noninvasive mechanical ventilation), and occasionally during the day as well. About 30 percent of affected individuals have difficulty swallowing due to muscle weakness in the throat. Rarely, people with this condition have a weakened and enlarged heart muscle (dilated cardiomyopathy).\n\nThe severity of congenital fiber-type disproportion varies widely. It is estimated that up to 25 percent of affected individuals experience severe muscle weakness at birth and die in infancy or childhood. Others have only mild muscle weakness that becomes apparent in adulthood. Most often, the signs and symptoms of this condition appear by age 1. The first signs of this condition are usually decreased muscle tone (hypotonia) and muscle weakness. In most cases, muscle weakness does not worsen over time, and in some instances it may improve. Although motor skills such as standing and walking may be delayed, many affected children eventually learn to walk. These individuals often have less stamina than their peers, but they remain active. Rarely, people with this condition have a progressive decline in muscle strength over time. These individuals may lose the ability to walk and require wheelchair assistance.|MedlinePlus Genetics|N|
C0546275|Sparse and small myenteric ganglia|HPO|N|
C0546297|Medial deviation of the great toe owing to a deformity of the great toe joint causing the hallux to deviate medially.|HPO|N|
C0546315|A cardiac diverticulum is a rare congenital malformation which is either fibrous or muscular.|HPO|N|
C0546345|Inflammation of the glomeruli with infiltration by polymorphonuclear leukocytes.|NCI|N|
C0546389|A type of hepatic necrosis that is concentrated around the necrosis of hepatocytes localized around the intrahepatic branch of portal vein.|HPO|N|
C0546393|A type of cutaneous amyloidosis that is characterized by hyperpigmented patches with indefinite margins composed of grayish brown macules, often with a reticulated or rippled appearance.|HPO|N|
C0546397|Calcinosis cutis with normal laboratory values of calcium and phosphorus and an underlying disease causing tissue damage.|MSH|N|
C0546474|An increased number of local terminal placental villous capillary cross-sections, generally with decreased capillary caliber, that shows variable distribution of villi.|NCI|N|
C0546476|Individuals with multiple self-healing squamous epithelioma (MSSE) develop multiple invasive skin tumors that undergo spontaneous regression leaving pitted scars. Age at onset is highly variable, ranging from 8 to 62 years. The disorder shows autosomal dominant inheritance, and most affected families have originated from western Scotland (Bose et al., 2006). MSSE has been considered to be a variety of multiple keratoacanthoma (Biskind et al., 1957; Haydey et al., 1980).|OMIM|N|
C0546483|A round circumscribed space within a lung that is surrounded by an epithelial or fibrous wall of variable thickness. A cyst usually has a thin and regular wall (less than 2 mm) and contains air, although some may contain fluid.|HPO|N|
C0546817|An increase in the amount of intravascular fluid, particularly in the volume of the circulating blood.|HPO|N|
C0546835|A cancer that involves the intrahepatic bile duct.|MONDO|N|
C0546837|Esophageal cancer, particularly esophageal squamous cell carcinoma (ESCC), is one of the most common cancers worldwide. Both environmental and genetic risk factors play a role in the pathogenesis of the disorder. In Europe and North America, heavy smoking, alcohol consumption, and increased body mass index (BMI) are the main environmental risk factors. In contrast, the particularly high incidence of ESCC in some areas of China, central Asia, and southern Africa is associated with nutritional deficiencies, high intake of nitrosamine-rich or pickled vegetables, and low socioeconomic status; smoking, alcohol consumption, and BMI play a lesser role in these populations. There is a tendency for familial aggregation of ESCC in high-risk geographic areas, suggesting a genetic component to increased susceptibility. Gastric cardia adenocarcinoma is another common type of cancer in China that shows similarities to ESCC in terms of geographic distribution and environmental risk factors (summary by Wang et al., 2010 and Abnet et al., 2010).
Genetic Heterogeneity of Susceptibility to Esophageal Cancer
See a variant in the ADH1B gene (103720.0001) for discussion of a possible genetic association with protection against squamous cell aerodigestive tract cancer, including esophageal cancer, in alcohol drinkers. See a variant in the ALDH2 gene (100650.0001) for discussion of a possible genetic association with increased risk for esophageal cancer in alcohol drinkers due to interaction between variants in the ADH1B and ALDH2 genes.
See the S100A14 gene (607986) on chromosome 1q21 for a discussion of a possible association between variation in that gene and susceptibility to esophageal squamous cell carcinoma among smokers.
Genetic Heterogeneity of Somatic Mutations in Esophageal Cancer
Somatic mutations in several different genes have been found in esophageal cancer tissue. These genes include TP53 (191170), CDKN2A (600160), DEC1 (604767), DCC (120470), DLEC1 (604050), TGFBR2 (190182), LZTS1 (606551), RNF6 (604242), WWOX (605131), APC (611731), and RUNX3 (600210).|OMIM|N|
C0546878|The combination of pendular nystagmus, head nodding, and torticollis.|HPO|N|
C0546884|An decrease in the amount of intravascular fluid, particularly in the volume of the circulating blood.|HPO|N|
C0546956|Excessive longitudinal ridging that gives the surface of the nail plate a rough appearance. It results from multiple foci of defective keratinization of the proximal nail matrix.|HPO|N|
C0546959|A disorder characterized by an electrocardiographic finding of an organized, regular atrial rhythm with atrial rate between 101 and 240 beats per minute. The P wave morphology must be distinct from the sinus P wave morphology. (CDISC)|NCI|N|
C0546964|An abnormally increased extension of the knee joint, so that the knee can bend backwards.|HPO|N|
C0546965|Abnormality of the mitral valve apparatus, whereby chordae attach to a single papillary muscle or hypoplastic papillary muscles.|HPO|N|
C0546966|Individuals with monilethrix have normal hair at birth, but within the first few months of life develop fragile, brittle hair that tends to fracture and produce varying degrees of dystrophic alopecia. In the mildest forms, only the occipital regions of the scalp are involved; however, in severe forms the eyebrows, eyelashes, and secondary sexual hair may also be involved. Follicular hyperkeratosis with predilection for the scalp, nape of neck, and extensor surfaces of the upper arm and thighs is also a characteristic finding in these patients. Light microscopic examination is diagnostic and reveals elliptical nodes of normal thickness and intermittent constrictions (internodes) at which the hair easily breaks. There may be spontaneous improvement with time, especially during puberty and pregnancy, but the condition never resolves completely (summary by Zlotogorski et al., 2006).
An autosomal recessive form of monilethrix-like congenital hypotrichosis (see 607903) is caused by mutation in the DSG4 gene (607892). The clinical picture of autosomal recessive monilethrix is more severe than the dominant form, with more extensive alopecia of the scalp, body, and limbs, and a papular rash involving the extremities and periumbilical region (Zlotogorski et al., 2006).
The term monilethrix derives from the Latin word for necklace and the Greek for hair (Schweizer, 2006).|OMIM|N|
C0546967|A posterior embryotoxon is the presence of a prominent and anteriorly displaced line of Schwalbe.|HPO|N|
C0546968|A congenital fistula in the neck resulting from incomplete closure of a branchial cleft.|HPO|N|
C0546969|A pit or dimple in front of the ear of a newborn is a common finding; rarely, such a dimple may get infected, which will be manifested with redness and swelling and will require medical attention.|NCI|N|
C0546982|A congenital metabolic detected in the neonatal period that is characterized by the presence of a meconium ileus. The disease affects the exocrine glands andis inherited as an autosomal trait. The secretions of exocrine glands are abnormal, resulting in excessively viscid mucus production which causes obstruction of passageways (including pancreatic and bile ducts, intestines, and bronchi). The sweat sodium and chloride content are increased. Symptoms usually appear in childhood and include meconium ileus, poor growth despite good appetite, malabsorption and foul bulky stools, chronic bronchitis with cough, recurrent pneumonia, bronchiectasis, emphysema, clubbing of the fingers, and salt depletion in hot weather.|NCI|N|
C0546983|The organic and psychogenic disturbances observed after closed head injuries (HEAD INJURIES, CLOSED). Post-concussion syndrome includes subjective physical complaints (i.e. headache, dizziness), cognitive, emotional, and behavioral changes. These disturbances can be chronic, permanent, or late emerging.|MSH|N|
C0546996|An unusual presentation of schistosomiasis characterized by a pruritic papular rash in the perigenital or periumbilical area due to an allergic reaction to schistosoma eggs deposited in the skin.|NCI|N|
C0546999|Cutaneous larva migrans is a rare parasitic disease characterized by single or multiple, linear or serpiginous, erythematous, slightly elevated cutaneous tracks caused by the larval migration of various nematode species. Tracks are variable in length, generally a few millimeters wide and are frequently located on the feet (although any area of the body is possible). Patients typically present with severe, intractable pruritus, which, in some cases, may cause impaired concentration, loss of sleep, and mood disturbances.|ORDO|N|
C0547030|An interference to normal eyesight.|NCI|N|
C0547065|Oligoastrocytoma is a type of low-grade glioma with a mixed astrocytoma and oligodendroglioma histology, manifesting with headaches, speech and motor problems, seizures and, in some, subarachnoid haemorrhage.|ORDO|N|
C0548883|The feeling of frustration can be defined as an emotional reaction that occurs when a desired goal is not achieved. Frustration intolerance is defined as an age-inappropriate response to frustration, characterized by crying or temper tantrums in children, or aggressive or other undesirable behaviors.|HPO|N|
C0549099|A hole or opening made through a membrane or other tissue or material.|NCI|N|
C0549118|A rare acute encephalopathy with inflammation-mediated status epilepticus characterized by infancy-onset of refractory unilateral, mainly clonic status epilepticus during or shortly after a febrile episode without evidence of central nervous system infection, followed by permanent or transient hemiplegia with a minimum duration of one week. The majority of children develop pharmaco-resistant epilepsy a few months later. Brain imaging shows edematous swelling of the affected hemisphere at the time of the initial status, followed by hemiatrophy that does not correlate with any vascular territory.|ORDO|N|
C0549122|An aberrant pupillary response characterized by (i) Constriction of pupils of both eyes when the light stimulus is applied to the normal eye, and (ii) Dilatation of pupils of both eyes when the light stimulus is rapidly transferred from the normal eye (after brief light exposure to the normal eye) to the affected eye.|HPO|N|
C0549124|The passage of an embolus from its site of formation in the arterial system to another location within the circulatory system.|NCI|N|
C0549148|Fitz-Hugh-Curtis syndrome (FHCS) is a condition in which a woman has swelling of the tissue covering the liver as a result of having pelvic inflammatory disease (PID). Symptoms most often include pain in the upper right abdomen just below the ribs, fever, nausea, or vomiting. The symptoms of pelvic inflammatory disease - pain in the lower abdomen and vaginal discharge -are oftenpresent as well. FHCS is usually caused by an infection of chlamydia or gonorrhea that leads to PID; it is not known why PIDprogresses toFHCS in some women. Fitz-Hugh-Curtis syndrome is treatedwith antibiotics.|MONDO|N|
C0549153|A persistent belief that a person is infested with living or non-living pathogens, such as parasites, insects, or bugs, when no such infestation is present.|HPO|N|
C0549159|The death of a live-born INFANT within its first year of life.|MSH|N|
C0549160|A spotted fever that has material basis in Rickettsia sibirica, which is transmitted by ticks (Dermacentor nuttalli, Dermacentor marginatus and Haemaphysalis concinna). The infection has symptom fever, has symptom eschar, has symptom regional adenopathy, and has symptom maculopapular rash.|MONDO|N|
C0549173|A developmental defect resulting in complete obliteration of the lumen of the rectum. That is, there is an abnormal closure, or atresia of the tubular structure of the rectum.|HPO|N|
C0549175|A congenital benign lesion that occurs in the distal sternocleidomastoid muscle of infants. It is characterized by the presence of plump spindle cells, and collagenous stroma formation.|NCI|N|
C0549184|No person or thing, nobody, not any.|NCI|N|
C0549206|Patient currently pregnant|SNOMEDCT_US|N|
C0549249|A neurologic state characterized by decreased ability to perceive and respond.|NCI|N|
C0549253|The presence of a dilated urinary bladder.|HPO|N|
C0549295|An abnormally increased number of plasma cells in tissues, exudates, or blood|HPO|N|
C0549306|Shortening of the middle parts of the limbs (forearm and lower leg) in relation to the upper and terminal segments.|HPO|N|
C0549357|Fibrous bands (i.e., bands of scar-like tissue) that span two or more intra-abdominal organs and/or the inner abdominal wall (i.e. peritoneal membrane).|HPO|N|
C0549370|A laboratory test result which indicates decreased levels of pancreatic enzymes in a biologic specimen.|NCI|N|
C0549379|The reemergence of a carcinoma after a period of remission.|NCI|N|
C0549384|Acute onset of unresponsiveness or diminished level of consciousness, associated with loss of muscle tone and pallor or cyanosis, that occurs within 48 hours after childhood immunizations. It is primarily associated with pertussis-containing vaccines administered to children under two years of age.|NCI|N|
C0549387|Neoplasm that is growing at a faster rate|NCI|N|
C0549397|Positioning of the nasal septum to the right or left in contrast to the normal midline position of the nasal septum.|HPO|N|
C0549398|An inflammation of MEIBOMIAN GLANDS.|MSH|N|
C0549399|An elevated concentration of low-density lipoprotein cholesterol in the blood.|HPO|N|
C0549400|An Apgar score less than seven.|NCI|N|
C0549410|A condition characterized by redness, pain, swelling, and tingling in the palms of the hands or the soles of the feet. It may appear as a side effect to chemotherapy agents.|NCI|N|
C0549414|Multiplication or reproduction by cell division of immature precursor cells that have not achieved a fully differentiated state. (NCI)|NCI|N|
C0549423|A form of hydrocephalus in which the flow of cerebrospinal fluid (CSF) within the cerebral ventricular system or in the outlets of the CSF to the arachnoid space is obstructed.|HPO|N|
C0549448|Concentration of hemoglobin in the blood circulation above the upper limit of normal.|HPO|N|
C0549463|X-linked lymphoproliferative disease (XLP) has two recognizable subtypes, XLP1 and XLP2. XLP1 is characterized predominantly by one of three commonly recognized phenotypes: Inappropriate immune response to Epstein-Barr virus (EBV) infection leading to hemophagocytic lymphohistiocytosis (HLH) or severe mononucleosis. Dysgammaglobulinemia. Lymphoproliferative disease (malignant lymphoma). XLP2 is most often characterized by HLH (often associated with EBV), dysgammaglobulinemia, and inflammatory bowel disease. HLH resulting from EBV infection is associated with an unregulated and exaggerated immune response with widespread proliferation of cytotoxic T cells, EBV-infected B cells, and macrophages. Dysgammaglobulinemia is typically hypogammaglobulinemia of one or more immunoglobulin subclasses. The malignant lymphomas are typically B-cell lymphomas, non-Hodgkin type, often extranodal, and in particular involving the intestine.|GeneReviews|N|
C0549471|A malignant neoplasm originating from the apical lung. Most malignant superior sulcus neoplasms are bronchogenic carcinomas. This tumor may be associated with Pancoast syndrome. It is also known as Pancoast tumor.|NCI|N|
C0549473|The presence of a carcinoma of the thyroid gland.|HPO|N|
C0549474|A device that has moved from its original location due to external forces (e.g. stent or lead movement).|NCI|N|
C0549567|Diseases affecting PIGMENTATION, including SKIN PIGMENTATION.|MSH|N|
C0549584|A disorder of the subcutaneous tissue.|NCI|N|
C0549613|An abnormality of the biliary tree.|HPO|N|
C0549622|Disturbances in sexual desire or performance.|NCI|N|
C0549629|An abnormality of the birth process.|HPO|N|
C0549651|An abnormality of the lens.|HPO|N|
C0552479|A description of an individual''s current and past experience with alcoholic beverage consumption.|NCI|N|
C0552579|The pregnancy status of an individual.|NCI|N|
C0552595|Symptoms, physical examination results, and/or laboratory test results related to mental health.|NCI|N|
C0553548|An arteritis characterized by the presence of inflammation and necrosis in the arterial wall.|NCI|N|
C0553576|A mycosis that involves the lungs, abdominal viscera, bones and or central nervous system.|MONDO|N|
C0553580|Ewing sarcoma is a cancerous tumor that occurs in bones or soft tissues, such as cartilage or nerves. There are several types of Ewing sarcoma, including Ewing sarcoma of bone, extraosseous Ewing sarcoma, peripheral primitive neuroectodermal tumor (pPNET), and Askin tumor. These tumors are considered to be related because they have similar genetic causes. These types of Ewing sarcoma can be distinguished from one another by the tissue in which the tumor develops. Approximately 87 percent of Ewing sarcomas are Ewing sarcoma of bone, which is a bone tumor that usually occurs in the thigh bones (femurs), pelvis, ribs, or shoulder blades. Extraosseous (or extraskeletal) Ewing sarcoma describes tumors in the soft tissues around bones, such as cartilage. pPNETs occur in nerve tissue and can be found in many parts of the body. A type of pPNET found in the chest is called Askin tumor.\n\nEwing sarcomas most often occur in children and young adults. Affected individuals usually feel stiffness, pain, swelling, or tenderness of the bone or surrounding tissue. Sometimes, there is a lump near the surface of the skin that feels warm and soft to the touch. Often, children have a fever that does not go away. Ewing sarcoma of bone can cause weakening of the involved bone, and affected individuals may have a broken bone with no obvious cause.\n\nIt is common for Ewing sarcoma to spread to other parts of the body (metastasize), usually to the lungs, to other bones, or to the bone marrow.|MedlinePlus Genetics|N|
C0553586|Watson syndrome (WTSN) is an autosomal dominant disorder characterized by pulmonic stenosis, cafe-au-lait spots, decreased intellectual ability (Watson, 1967), and short stature (Partington et al., 1985). Most affected individuals have relative macrocephaly and Lisch nodules and about one-third of those affected have neurofibroma (Allanson et al., 1991).|OMIM|N|
C0553604|An inherited or acquired, localized or generalized disorder affecting the muscles. It may be associated with abnormalities in the chloride or sodium channels of the muscles. It is characterized by delayed muscle relaxation following stimulation or contraction. Representative examples include myotonia congenita and myotonic dystrophy.|NCI|N|
C0553647|A rare, superficial fibromatosis characterized by non-malignant, locally invading, fibrosing tumour of differentiated fibroblasts, slowly growing subcutaneously, occurring predominantly distally on the extremities, especially the hands and feet. Histologic examination shows a multinodular pattern with large areas of calcification and fibrosis, and the presence of elongated spindle cells with hyperchromatic plump vesicular nuclei interspersed within fine bands of collagen.|ORDO|N|
C0553668|Breathing that requires observed effort or an increased amount of energy.|NCI|N|
C0553681|Decreased concentration of fibrinogen in the blood.|HPO|N|
C0553694|impairment of health or a condition of abnormal functioning of a region of the pharynx that is below the soft palate and above the epiglottis and is continuous with the mouth.|CSP|N|
C0553720|The presence of erythrocytes that are sphere-shaped.|HPO|N|
C0553723|Squamous cell carcinoma of the skin is a malignant tumor of squamous epithelium.|HPO|N|
C0553730|Radiographic evidence of articular calcification that represent calcium pyrophosphate depositions in soft tissue surrounding joints and at the insertions of tendons near joints (Entheses/Sharpey fibers) .|HPO|N|
C0553757|Impaired ability to smell. This may be caused by OLFACTORY NERVE DISEASES; PARANASAL SINUS DISEASES; viral RESPIRATORY TRACT INFECTIONS; CRANIOCEREBRAL TRAUMA; SMOKING; and other conditions.|MSH|N|
C0553974|Fibrous mediastinitis arising due to radiation therapy.|NCI|N|
C0553980|The presence of excessive connective tissue in the endocardium.|HPO|N|
C0554101|The enteric villi are atrophic or absent.|HPO|N|
C0554103|Abnormality of the absorption of fat from the gastrointestinal tract.|HPO|N|
C0554114|A viral hepatitis that results in inflammation, located in liver, has material basis in Human herpesvirus 4 and has symptom headache, has symptom fatigue, has symptom fever, has symptom abdominal pain, has symptom nausea, and has symptom jaundice.|MONDO|N|
C0554393|Interruption of the blood supply to a portion of the placenta, resulting in ischemic necrosis.|NCI|N|
C0554463|A botromycosis that involves the skin and subcutaneous tissue (it is a more common type).|MONDO|N|
C0554472|A disease that involves the pilosebaceous unit.|MONDO|N|
C0554478|The presence of a rash (change of color and texture) of the perianal skin.|HPO|N|
C0554632|A sexually transmitted papillary growth caused by the human papillomavirus. It usually arises in the skin and mucous membranes of the perianal region and external genitalia.|MONDO|N|
C0554636|Infections with bacteria LEPTOSPIRA CANICOLA.|MSH|N|
C0554849|A particular treatment is unavailable.|NCI|N|
C0554970|A pale yellow discoloration of the optic disc (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression.|HPO|N|
C0554976|Abnormal slowness of thought processes.|HPO|N|
C0554978|The sensation that thoughts are moving too quickly.|HPO|N|
C0555028|An indication that a married individual who is or was living with another person left their shared home.|NCI|N|
C0555047|Indicates a person currently joined in a legally binding matrimonial union. Classify common law marriage as married. Includes married couples living together and not living together.|NCI|N|
C0555049|An indication that a male, married individual who is or was living with another person left their shared home.|NCI|N|
C0555050|An indication that a female, married individual who is or was living with another person left their shared home.|NCI|N|
C0555051|An indication that an individual who is or was living with another person left their shared home.|NCI|N|
C0555069|The recurrent, measured movements (rhythm) of a beating heart in a fetus.|NCI|N|
C0555191|A histologic variant of basal cell carcinoma of the skin characterized by the presence of strands and nests of malignant cells that are embedded in a dense fibrotic stroma.|NCI|N|
C0555197|A rare fibro-osseous lesion of the jaw that predominantly affects middle-aged women of African descent. It is generally asymptomatic or may manifest with pain and gingival swelling. Multiple dense lobulated bone lesions often symmetrical are located in various regions of the jaw and can be seen on radiological examination.|SNOMEDCT_US|N|
C0555198|A grade 3 or grade 4 glioma arising from the central nervous system. This category includes glioblastoma, anaplastic astrocytoma, anaplastic ependymoma, anaplastic oligodendroglioma, and anaplastic oligoastrocytoma.|NCI|N|
C0555199|A lesion characterized by the presence of neoplastic neuroepithelial cells with palisading nuclei. This lesion implies a morphologic growth pattern and it is not considered a clinicopathological entity.|NCI|N|
C0555201|A rare benign neuroectodermal tumor originating from olfactory receptor cells in the nasal cavity. Microscopically, it is characterized by the absence of malignant characteristics and the absence of rosettes formation.|NCI|N|
C0555206|Chiari malformation type II (CM2), also known as the Arnold-Chiari malformation, consists of elongation and descent of the inferior cerebellar vermis, cerebellar hemispheres, pons, medulla, and fourth ventricle through the foramen magnum into the spinal canal. CM2 is uniquely associated with myelomeningocele (open spina bifida; see 182940) and is found only in this population (Stevenson, 2004). It is believed to be a disorder of neuroectodermal origin (Schijman, 2004).
For a general phenotypic description of the different forms of Chiari malformations, see Chiari malformation type I (CM1; 118420).|OMIM|N|
C0555214|Polycystic lung disease (PCLUD) is an autosomal recessive disorder characterized by childhood-onset exertional dyspnea and cough due to progressive airflow obstruction in the lungs. Pulmonary imaging shows diffuse lung disease with pleural and subpleural cysts and peripheral consolidations, and lung biopsy shows bronchiolitis and lymphocytosis of the terminal bronchioles, often with features of pulmonary alveolar proteinosis (PAP). Most affected individuals have recurrent respiratory infections; some have an adverse response to BCG vaccination. Additional features may include digital clubbing, allergies, and atopic dermatitis (et al., 2024).|OMIM|N|
C0556280|An abnormality of the ability (skills) to perform a precise movement of large muscles with the intent to perform a specific act. Gross motor skills are required to mediate movements of the arms, legs, and other large body parts.|HPO|N|
C0556298|An individual who drinks from time to time, but generally less than once per week.|NCI|N|
C0556338|An individual who drinks at least once per week with regularity.|NCI|N|
C0556374|operating a vehicle (automobile, truck, boat, plane, bicycle, etc) while under the influence of alcohol or other illicit drugs.|CSP|N|
C0556398|abusive administration of a substance intranasally or by breathing it into the lungs from the surrounding air.|CSP|N|
C0557094|An individual''s total number of brothers and sisters.|NCI|N|
C0557128|An indication that an individual is living in the home of a friend.|NCI|N|
C0557130|Living with family. Maps to PD1-2 Living arrangement (IS) 00742 \[F\]CHAR(13)|HL7V3.0|N|
C0557134|An indication that an individual lives with their mother.|NCI|N|
C0557135|An indication that an individual lives with their father.|NCI|N|
C0557163|A demographic parameter indicating the amount of earnings made by a family.|NCI|N|
C0557286|Indicates that a person has never attended an educational program or formal schooling.|NCI|N|
C0557351|Individuals who, during the last week: a) did any work for at least 1 hour as paid or unpaid employees of a business or government organization; worked in their own businesses, professions, or on their own farms; or b) were not working, but who have a job or business from which the individual was temporarily absent because of vacation, illness, bad weather, childcare problems, maternity or paternity leave, labor-management dispute, job training, or other family or personal reasons, regardless of whether or not they were paid for the time off or were seeking other jobs.CHAR(13)|HL7V3.0|N|
C0557369|An indication that an individual is seeking work.|NCI|N|
C0557742|An unfamiliar environment that also feels strange or frightening.|SNOMEDCT_US|N|
C0557874|A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.|HPO|N|
C0558066|An unwelcome and persistent idea, image or thought that is upsetting to an individual.|NCI|N|
C0558089|Written or spoken words that are excessively critical, insulting, and/or intimidating.|PSY|N|
C0558116|Distortions in the evaluative picture or mental representation an individual has of his/her body. Compare BODY DYSMORPHIC DISORDER.|PSY|N|
C0558125|An indication that an individual is or was married to single individual at a given time.|NCI|N|
C0558141|A person who was assigned to one gender at birth based on physical characteristics but who self-identifies psychologically and emotionally as the other.|NCI|N|
C0558143|A softening and breaking down of skin resulting from prolonged exposure to moisture. Macerated skin becomes soft and wrinkly and takes on a whitish hue.|HPO|N|
C0558145|The pores are visible but not large. The skin texture is neither fine or thick and it neither feels dry or oily to the touch.|NCI|N|
C0558177|A question about whether an individual chokes or has choked when swallowing.|NCI|N|
C0558224|Appropriate adjustment of prevailing emotional tone in response to circumstances|NOC|N|
C0558348|Gastroenteritis resulting from a bacterial infection.|NCI|N|
C0558353|A malignant tumor arising from the epithelium that covers the tongue. The vast majority of tongue carcinomas are moderately or poorly differentiated squamous cell carcinomas.|NCI|N|
C0558354|A carcinoma that arises from the hard or soft palate. Representative examples include squamous cell carcinoma, adenoid cystic carcinoma, and mucoepidermoid carcinoma.|NCI|N|
C0558355|A carcinoma arising from the tonsilar epithelium.|NCI|N|
C0558356|A melanoma that arises from the structures of the eye or ocular adnexa.|NCI|N|
C0558385|A non-neoplastic or neoplastic disorder that affects the anatomic structures of the neck region. This category includes disorders of the pharynx, larynx, thyroid gland, and parathyroid gland.|NCI|N|
C0558753|Lack of contraction of abdominal muscles in the quadrant of the abdomen that is stimulated by scraping the skin tangential to or toward the umbilicus.|HPO|N|
C0558844|Absence of the knee jerk reflex, which can normally be elicited by tapping the patellar tendon with a reflex hammer just below the patella.|HPO|N|
C0558845|Absence of the Achilles reflex (also known as the ankle jerk reflex), which can normally be elicited by tapping the tendon is tapped while the foot is dorsiflexed.|HPO|N|
C0559031|Chronic or recurrent gastrointestinal disorders without an identifiable structural or biochemical explanation by the routine diagnostic tests. Functional gastrointestinal disorders are classified according to the presumed site of the disorder, such as IRRITABLE BOWEL SYNDROME, non-ulcer DYSPEPSIA, and non-cardiac CHEST PAIN.|MSH|N|
C0559106|An abnormality in which the cardiac ventricles depolarize too early as a result of an abnormality of cardiac conduction pathways such as an accessory pathway.|HPO|N|
C0559116|A question about a family history of stomach cancer.|NCI|N|
C0559185|A rare glioblastoma that arises from the spinal cord and occurs in adults.|NCI|N|
C0559262|A congenital anomaly, in which the transverse process of the last lumbar vertebra (L5) fuses to the sacrum on one side or both, or to ilium, or both.|HPO|N|
C0559306|Symptoms, physical examination results, and/or laboratory test results related to the endocrine system.|NCI|N|
C0559458|A neuroblastoma arising from the central nervous system.|NCI|N|
C0559459|A teratoma arising in the sacro-coccygeal region.|HPO|N|
C0559460|A neuroblastoma arising from the adrenal gland.|NCI|N|
C0559469|Hypersensitivity in form of an adverse immune reaction against eggs.|HPO|N|
C0559470|Allergic reaction to peanuts that is triggered by the immune system.|MSH|N|
C0559477|A condition characterized by cardiorespiratory and neurological depression following birth.|NCI|N|
C0559483|Pentalogy of Cantrell (POC) is a lethal multiple congenital anomalies syndrome, characterized by the presence of 5 major malformations: midline supraumbilical abdominal wall defect, lower sternal defect, diaphragmatic pericardial defect, anterior diaphragmatic defect and various intracardiac malformations. Ectopia cordis (EC) is often found in fetuses with POC.|ORDO|N|
C0559487|A benign, borderline, or malignant neoplasm that affects the paratesticular structures.|NCI|N|
C0559546|Any noxious and unintended response(s) to a medical product or procedure, for which a causal relationship with this product or procedure is at least a reasonable possibility i.e., the relationship cannot be ruled out.|NCI|N|
C0559565|Symptoms, signs, diagnostic examinations or a test results in a pregnant mother.|NCI|N|
C0559593|Oral intake of commercial convenience foods.|SNOMEDCT_US|N|
C0559878|Fracture blister is a type of blister that forms following acute bone fractures, typically near the ankle, wrist elbow or foot, where skin adheres tightly to bone with little subcutaneous fat cushioning. The blister that results resembles that of a second degree burn.|HPO|N|
C0559938|A rupture in the ileal wall due to traumatic or a pathologic processes.|NCI|N|
C0560046|Incapability to ambulate.|HPO|N|
C0560085|Reduced ability to desscend stairs.|HPO|N|
C0560175|The condition of harboring an infective organism without manifesting symptoms of infection. The organism must be readily transmissible to another susceptible host.|MSH|N|
C0560184|The maintenance of a stable, upright body position.|NCI|N|
C0560258|IgA nephropathy secondary to hepatobiliary disease.|NCI|N|
C0560346|Reduced ability to run.|HPO|N|
C0560786|Personal actions to change own body position independently with or without assistive device|NOC|N|
C0561768|Memory of events without specific awareness of learning or experiencing the event.|PSY|N|
C0561921|The presence of a fistula between the bowel and the perineum.|HPO|N|
C0562351|A circumferential measurement of the largest part of the upper arm.|NCI|N|
C0562366|Comprises a set of group dynamics whereby a group in which one feels comfortable may override personal habits, individual moral inhibitions or idiosyncratic desires to impose a group norm of attitudes and/or behaviors.|NCI|N|
C0562381|Indication of abuse victim.CHAR(13)|HL7V3.0|N|
C0562479|Habitual clasping and wringing of the hands in the middle of the body, similar to a hand-washing movement.|HPO|N|
C0562507|Personal actions to perform the most basic physical tasks and personal care activities independently with or without assistive device|NOC|N|
C0562561|Formation of and investment in significant relationships. Usually refers to the emotional and biological attachment of human or animal infants to caretaking figures.|PSY|N|
C0562633|Detection of a parasitic organism in the blood stream. Blood parasites include malaria plasmodia, microfilaria species, trypanosomes (the causative agents of African sleeping sickness and South American Changas disease) and the causative agents of schistosomiasis of the bladder and the intestine.|HPO|N|
C0562734|Personal actions to perform basic personal care activities and instrumental activities of daily living|NOC|N|
C0562769|The ability to sit in a bath and perform activities of bathing.|SNOMEDCT_US|N|
C0562775|The ability to stand in a bath and perform activities of bathing.|SNOMEDCT_US|N|
C0562781|The ability to kneel in a bath and perform activities of bathing.|SNOMEDCT_US|N|
C0562810|Personal actions to toilet self independently with or without assistive device|NOC|N|
C0563204|Susceptible to localized injury to the skin and/or underlying tissue usually over a bony prominence as a result of pressure, or pressure in combination with shear (NPUAP, 2007).|NANDA-I|N|
C0563211|A squamous cell carcinoma or less frequently an adenocarcinoma, often associated with human papillomavirus (HPV) infection. Homosexual men are at particular risk. The most important prognostic factors are tumor stage and nodal status.|NCI|N|
C0563238|Inflammation of the stomach resulting from viral infection.|NCI|N|
C0563312|Monoclonal gammopathy of undetermined significance defined by a serum IgM paraprotein concentration less than 30g/L; bone marrow lymphoplasmacytic infiltration of less than 10%; and no evidence of anemia, constitutional symptoms, hyperviscocity, lymphadenopathy, hepatosplenomegaly, or other end-organ damage that can be attributed to the underlying lymphoproliferative disorder. It is a precursor condition that may progress to lymphoplasmacytic lymphoma/ Waldenstrom macroglobulinemia, other B-cell neoplasms, or primary amyloidosis. Progression to plasma cell myeloma occurs rarely, if at all. (WHO 2017)|NCI|N|
C0563621|An agnosia that is a loss of the ability to perceive a whole object while perceiving only parts of details.|MONDO|N|
C0563625|Loss of the ability to perceive and process pain.|NCI|N|
C0563634|Acute promyelocytic leukemia in which the promyelocytes in the peripheral blood have paucity or absence of cytoplasmic granules and characteristic bilobed nuclei.|NCI|N|
C0564182|Production of sounds by means of vocal cord vibrations.|PSY|N|
C0564331|A question about the reason why an individual did not prepare meals.|NCI|N|
C0564408|A state of abnormally elevated or irritable mood, arousal, and/or energy levels.|HPO|N|
C0564444|A cutaneous wound is a defined as a disruption of normal anatomic structure and function of the skin that occurs owing to an injury of the skin. Wound healing is a dynamic, interactive process involving soluble mediators, blood cells, extracellularmatrix, and parenchymal cells. Wound healing has three phases|HPO|N|
C0564474|Severity of manifested apprehension, tension, or uneasiness arising from an unidentifiable source|NOC|N|
C0564755|Acute appendicitis with gangrenous changes resulting in the rupture of the appendiceal wall. The appendiceal wall rupture causes the release of inflammatory and bacterial contents from the appendiceal lumen into the abdominal cavity.|NCI|N|
C0565599|Increased blood pressure during a pregnancy.|HPO|N|
C0565824|An infant born after 28 completed weeks of gestation and before 32 completed weeks of gestation.|SNOMEDCT_US|N|
C0565917|Personal actions to care for own mouth and teeth independently with or without assistive device|NOC|N|
C0566027|Diminished ability to exchange thoughts, opinions, or information through, speech|CCC|N|
C0566415|A response indicating that an individual is unable to do feed themself.|NCI|N|
C0566602|Primary sclerosing cholangitis (PSC) is a slowly progressive cholestatic liver disease characterized by fibroobliterative inflammation of the biliary tract, leading to cirrhosis and portal hypertension. It is a major indication for liver transplantation (Sheth et al., 2003).
Approximately 75 to 80% of PSC cases are associated with inflammatory bowel disease (IBD; see 266600), and 2.5 to 7.5% of patients with IBD develop PSC (Lee and Kaplan, 1995).|OMIM|N|
C0566620|A type of speech characterized by the presence of an abnormally increased nasal airflow during speech associated with structural abnormality of the nasal passages.|HPO|N|
C0566693|Increased size of the placenta.|HPO|N|
C0566694|Reduced size of the placenta.|HPO|N|
C0566730|Clinical and laboratory findings about the umbilical cord.|NCI|N|
C0566888|A narrowing of the sacrosciatic notch, i.e., the deep indentation in the posterior border of the hip bone at the point of union of the ilium and ischium.|HPO|N|
C0566899|Undergrowth of the outer labia.|HPO|N|
C0566986|Anomalous amount, odor, or consistency of the fluid or mucus that comes from the vagina|HPO|N|
C0567037|An indication that an individual''s uterus is present.|NCI|N|
C0567085|A painful sensation in the uterus.|NCI|N|
C0567091|The uterus during pregnancy.|NCI|N|
C0567116|A tightening of the involuntary smooth muscles of the uterus.|NCI|N|
C0567125|A consistent rhythmic pattern of uterine muscle tightening that occurs at regular intervals for the same duration of time.|NCI|N|
C0567132|An uterine contraction that is barely felt.|NCI|N|
C0567407|Type 1 diabetes mellitus in which there are frequent, clinically significant fluctuations in blood glucose levels both above and below levels expected to be achieved by available therapies.|SNOMEDCT_US|N|
C0567489|A localized pathological or traumatic structural change, damage, deformity, or discontinuity of the breast.|NCI|N|
C0568062|A rare intoxication characterized by acute renal tubular toxicity due to crystallization of methotrexate in the renal tubular lumen (which in turn leads to impaired methotrexate clearance and further deterioration of renal function and exacerbation of non-renal adverse events), myelosuppression with pancytopenia, gastrointestinal mucositis, maculopapular skin rash, chemical conjunctivitis, hepatotoxicity (reversible chemical hepatitis and hyperbilirubinemia), pulmonary toxicity, and, in severe cases, multiorgan failure. Central nervous system involvement, including headaches, seizures, and stroke-like symptoms, may also be observed.|ORDO|N|
C0574002|The accumulation of fluid in the feet, most prominently on the dorsum.|NCI|N|
C0574019|Partial or complete obstruction of the duodenal lumen due to the presence of a membranous web.|NCI|N|
C0574027|Abnormal outpouching or sac-like dilatation in the wall of the vertebral artery .|HPO|N|
C0574044|A rare non-syndromic limb overgrowth characterized by isolated congenital enlargement of some or all tissue elements of one or more digits of the hand, typically within a peripheral nerve territory, with the nerve itself being elongated, as well as increased in diameter. The index finger is most commonly affected. If two or more digits are involved, these are always adjacent. The enlargement may be progressive with disproportionate or static with proportionate growth and can be unilateral or bilateral. Patients may experience pain and reduced range of motion.|ORDO|N|
C0574079|A disease that has its basis in the disruption of creatine biosynthetic process.|MONDO|N|
C0574080|The creatine deficiency disorders (CDDs), inborn errors of creatine metabolism and transport, comprise three disorders: the creatine biosynthesis disorders guanidinoacetate methyltransferase (GAMT) deficiency and L-arginine:glycine amidinotransferase (AGAT) deficiency; and creatine transporter (CRTR) deficiency. Developmental delay and cognitive dysfunction or intellectual disability and speech-language disorder are common to all three CDDs. Onset of clinical manifestations of GAMT deficiency (reported in ~130 individuals) is between ages three months and two years; in addition to developmental delays, the majority of individuals have epilepsy and develop a behavior disorder (e.g., hyperactivity, autism, or self-injurious behavior), and about 30% have movement disorder. AGAT deficiency has been reported in 16 individuals; none have had epilepsy or movement disorders. Clinical findings of CRTR deficiency in affected males (reported in ~130 individuals) in addition to developmental delays include epilepsy (variable seizure types and may be intractable) and behavior disorders (e.g., attention deficit and/or hyperactivity, autistic features, impulsivity, social anxiety), hypotonia, and (less commonly) a movement disorder. Poor weight gain with constipation and prolonged QTc on EKG have been reported. While mild-to-moderate intellectual disability is commonly observed up to age four years, the majority of adult males with CRTR deficiency have been reported to have severe intellectual disability. Females heterozygous for CRTR deficiency are typically either asymptomatic or have mild intellectual disability, although a more severe phenotype resembling the male phenotype has been reported.|GeneReviews|N|
C0574083|Barth syndrome is characterized in affected males by cardiomyopathy, neutropenia, skeletal myopathy, prepubertal growth delay, and distinctive facial gestalt (most evident in infancy); not all features may be present in a given affected male. Cardiomyopathy, which is almost always present before age five years, is typically dilated cardiomyopathy with or without endocardial fibroelastosis or left ventricular noncompaction; hypertrophic cardiomyopathy can also occur. Heart failure is a significant cause of morbidity and mortality; risk of arrhythmia and sudden death is increased. Neutropenia is most often associated with mouth ulcers, pneumonia, and sepsis. The nonprogressive myopathy predominantly affects the proximal muscles, and results in early motor delays. Prepubertal growth delay is followed by a postpubertal growth spurt with remarkable "catch-up" growth. Heterozygous females who have a normal karyotype are asymptomatic and have normal biochemical studies.|GeneReviews|N|
C0574084|Costeff syndrome is characterized by optic atrophy and/or choreoathetoid movement disorder with onset before age ten years. Optic atrophy is associated with progressive decrease in visual acuity within the first years of life, sometimes associated with infantile-onset horizontal nystagmus. Most individuals have chorea, often severe enough to restrict ambulation. Some are confined to a wheelchair from an early age. Although most individuals develop spastic paraparesis, mild ataxia, and occasional mild cognitive deficit in their second decade, the course of the disease is relatively stable.|GeneReviews|N|
C0574143|The presence of solitary or multiple stones in the intrahepatic bile ducts.|NCI|N|
C0574785|Symptoms that result from pathologic processes affecting the urinary bladder and/or urethra. They include urinary frequency and urgency, dysuria, nocturia, incomplete voiding, and poor stream during urination.|NCI|N|
C0574786|Sudden and sustained deterioration of the kidney function with decreased glomerular filtration rate, and concommittant necrosis of the renal papillae; representative causes include sickle cell disease, heave analgesic use, diabetes mellitus, and pyelonephritis.|NCI|N|
C0574845|The date (and time) on which the event began.|NCI|N|
C0574912|An out-pouching of the calyx into the renal parenchyma.|NCI|N|
C0574960|Inflammation of the SACROILIAC JOINT. It is characterized by lower back pain, especially upon walking, fever, UVEITIS; PSORIASIS; and decreased range of motion. Many factors are associated with and cause sacroiliitis including infection; injury to spine, lower back, and pelvis; DEGENERATIVE ARTHRITIS; and pregnancy.|MSH|N|
C0574978|The ability of the knee to move past its normal range of motion, (knee hyperextension is greater than 10 degrees).|HPO|N|
C0575052|An increase in SKELETAL MUSCLE mass in normal muscle development. In human adults it results primarily from an increase in the size of SKELETAL MUSCLE FIBERS unlike in muscle hyperplasia where an increase in the number of skeletal muscle fibers is a major factor.|MSH|N|
C0575059|Spastic weakness affecting all four limbs.|HPO|N|
C0575064|Painful sensation felt when pressure is applied to the muscles.|MSH|N|
C0575081|The term gait disturbance can refer to any disruption of the ability to walk. In general, this can refer to neurological diseases but also fractures or other sources of pain that is triggered upon walking. However, in the current context gait disturbance refers to difficulty walking on the basis of a neurological or muscular disease.|HPO|N|
C0575090|Have you ever felt dizzy, lightheaded, or as if the room is spinning around you? If the feeling happens often, it could be a sign of a balance problem. Balance problems can make you feel unsteady. You may also have blurred vision, confusion, and disorientation. They are one cause of falls and fall-related injuries, such as a hip fracture (broken hip).CHAR(13) Some balance problems are due to problems in the inner ear. Others may involve another part of the body, such as the brain or the heart. Aging, infections, head injury, certain medicines, or problems with blood circulation may also cause balance problems.CHAR(13) It is important to see your doctor about balance problems. They can be a sign of other health problems, such as an ear infection or a stroke. Your doctor may send you to a specialist for a diagnosis. You may need a hearing test, blood tests, or imaging studies of your head and brain. Other possible tests look at your eye movements, and how your body responds to movement.CHAR(13) In some cases, treating the illness that is causing the disorder will help with the balance problem. Exercises, a change in diet, and some medicines also can help.CHAR(13) NIH: National Institute on Deafness and Other Communication DisordersCHAR(13)|MEDLINEPLUS|N|
C0575126|Number of times an individual falls|NOC|N|
C0575141|Symptoms, physical examination results, and/or laboratory test results related to the head and neck.|NCI|N|
C0575154|Noises from the temporomandibular joint during mandibular movement (e.g., chewing). Temporomandibular joint crepitus is often described as a clicking, popping, grating sound.|HPO|N|
C0575157|A congenital or acquired deformity of the spine. Representative examples include scoliosis, kyphosis, and sagittal imbalance.|NCI|N|
C0575158|An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane.|HPO|N|
C0575170|Exaggerated convexity of the cervical vertebral column, causing the cervical spine to bow outwards and take on a rounded appearance.|HPO|N|
C0575484|Increased inferior to superior extent of the thorax.|HPO|N|
C0575497|Decreased inferosuperior length of the sternum.|HPO|N|
C0575518|Abnormal increase in size of the upper limbs (due to an increase of the size of cells).|HPO|N|
C0575535|Abnormally reduced diameter (cross section) of the clavicles.|HPO|N|
C0575545|Active range of motion of the shoulder with self-initiated movement|NOC|N|
C0575649|Active range of motion of the elbow with self-initiated movement|NOC|N|
C0575717|Active range of motion of the wrist with self-initiated movement|NOC|N|
C0575802|Disproportionately small hand.|HPO|N|
C0575803|An abnormal position of the hand in which the wrist is bent toward the radius (i.e., toward the thumb).|HPO|N|
C0575827|Significant reduction in both length and girth of the finger compared to the contralateral finger, or alternatively, compared to a typical finger size for an age-matched individual.|HPO|N|
C0575830|Active range of motion of the fingers with self-initiated movement|NOC|N|
C0575897|An abnormal structure of the first digit of the hand.|HPO|N|
C0575904|Bending or curvature of a thumb towards the ulnar side (towards the ring finger).|HPO|N|
C0575995|External twisting of the tibia resulting in the toes of each foot pointing outward (outtoeing) .|HPO|N|
C0576002|Active range of motion of the hip with self-initiated movement|NOC|N|
C0576093|The legs angle inward, such that the knees are close together and the ankles far apart.|HPO|N|
C0576094|Active range of motion of the knee with self-initiated movement|NOC|N|
C0576183|Active range of motion of the ankle with self-initiated movement|NOC|N|
C0576225|Increased back to front length of the foot.|HPO|N|
C0576227|A foot for which the measured width is below the 5th centile for age; or, a foot that appears disproportionately narrow for its length.|HPO|N|
C0576456|Occurs either when an infant shows no interest in feeding or when there is an inability to take in adequate nutrition. Poor feeding is a nonspecific symptom of many disorders, including neurological, genetic, structural, metabolic, and infectious diseases.|NCI|N|
C0576702|An electric shock-like sensation that occurs on flexion of the neck. This sensation radiates down the spine, often into the legs, arms, and sometimes to the trunk.|HPO|N|
C0576714|The Phalen maneuver is performed by having the patient hold both wrists in complete and forced flexion (pushing the dorsal surfaces of both hands together) for 30-60 seconds. This can increase the pressure in the carpal tunnel. The test is positive (abnormal) if the patient experiences characteristic symptoms of carpal tunnel syndrome (pain and paresthesias along the distribution of the median nerve, i.e., thumb, index finger, and middle finger).|HPO|N|
C0576900|Aplasia of the malleus.|HPO|N|
C0576909|Aplasia of the stapes.|HPO|N|
C0576995|Bleeding originating from the pharynx.|NCI|N|
C0576999|Lack of observable tonsillar tissue.|HPO|N|
C0577008|A swelling or enlargment localized to the esophagus. The word mass is usually used at an early stage of the diagnostic workup before the precise nature of the swelling has been determined.|HPO|N|
C0577018|An abnormal growth located in the stomach.|NCI|N|
C0577053|A localized pathological or traumatic structural change, damage, deformity, or discontinuity of the liver.|NCI|N|
C0577066|Abnormal increased in the thickness of the size of the gallbladder.|HPO|N|
C0577213|Testicular Tenderness: abnormal tenderness of the testicles to light palpation. Can be a manifestation of vasculitis.|AIR|N|
C0577220|Abnormal increase in the size of the epididymis.|HPO|N|
C0577242|Congenital lack of the skin of prepuce of penis, that is, of the double-layered fold of skin and mucous membrane that covers the glans penis.|HPO|N|
C0577559|A benign or malignant pathologic structure in any part of the body, resulting from a neoplastic accumulation of cells, inflammatory cells, or cystic changes.|NCI|N|
C0577620|Hypersensitivity in form of an adverse immune reaction against nut food products.|HPO|N|
C0577625|An allergic reaction triggered by exposure to allergens found in foods containing molluscs, crustaceans or echinoderms.|NCI|N|
C0577628|Latex allergy is an IgE-mediated immediate hypersensitivity response to natural rubber latex (NRL) protein with a variety of clinical signs ranging from contact urticaria, angioedema, asthma, and anaphylaxis.|HPO|N|
C0577655|Weakness of the quadriceps muscle (that is, of the muscle fasciculus of quadriceps femoris).|HPO|N|
C0577692|A carcinoma that arises from the urothelial lining of the ureter.|NCI|N|
C0577725|A type of inferior mediastinal mass that is located in front of the pericardium.|HPO|N|
C0577731|Adenocarcinoma that is spread throughout the body.|NCI|N|
C0577822|Any abnormal noise generated by the beating heart.|HPO|N|
C0577916|A localized pathological or traumatic structural change, damage, deformity, or discontinuity of the lung.|NCI|N|
C0577961|Crackles that are heard during the inspiratory phase.|HPO|N|
C0577962|Crackles that occur during expiration.|HPO|N|
C0578022|The result of a body mass index measurement.|NCI|N|
C0578033|An alteration in body temperature outside the normal range.|NCI|N|
C0578038|Height of the vermilion of the medial part of the lip more than 2 SD below the mean, or apparently reduced height of the vermilion of the lip in the frontal view. The vermilion is the red part of the lips (and confusingly, the vermilion itself is also often referred to as being equivalent the lips).|HPO|N|
C0578050|A painful sensation in a lymph node.|NCI|N|
C0578159|Diarrhea that is associated with current or recent antibiotic use.|NCI|N|
C0578228|A question about the ability of an individual to get on and off the toilet.|NCI|N|
C0578264|Personal actions to move from place to place in a wheelchair|NOC|N|
C0578477|Presence of multiple polyps in the duodenum.|HPO|N|
C0578503|Abnormal vaginal bleeding occurs between menstrual periods, after sex, or after menopause. Menstrual periods that are heavier or last longer than usual or last more than seven days also are considered abnormal.|HPO|N|
C0578531|Skin dimples are cutaneous indentations that are the result of tethering of the skin to underlying structures (bone) causing an indentation.|HPO|N|
C0578532|A sign, symptom, or clinical test result related to the lymph nodes.|NCI|N|
C0578541|Swelling due to an excessive accumulation of fluid in trunk area.|NCI|N|
C0578626|A markedly blue coloration of the iris.|HPO|N|
C0578652|Symptoms, physical examination results, and/or laboratory test results related to the eye.|NCI|N|
C0578661|A gonorrhea that involves the seminal vesicle.|MONDO|N|
C0578686|Inferior malposition of the lower eyelid margin without eyelid eversion.|HPO|N|
C0578691|Ability to move leg with a very quick and forceful thrust.|SNOMEDCT_US|N|
C0578735|Enlarged lymph node located in the axillary region (armpit).|HPO|N|
C0578736|Enlarged lymph node located in the inguinal region (groin).|HPO|N|
C0578862|The fluid pressure within the eye.|NCI|N|
C0578869|Acute form of idiopathic urticaria.|MONDO|N|
C0578870|Urticaria characterized by spontaneously recurring hives for 6 weeks or longer.|HPO|N|
C0578878|Inflammation, or an inflammatory state in the large intestine.|HPO|N|
C0579094|Ability to change body location independently with or without assistive device|NOC|N|
C0579096|A response indicating that an individual lacks sitting balance and is unable to sit or transfer.|NCI|N|
C0579127|The person actively helps with dressing, they may lift their feet for a pant opening or a child may help by pushing their arm through a sleeve.|SNOMEDCT_US|N|
C0579128|The person may not be able to actively assist but they act jointly to being dressed and do not, for example, fight the caretaker.|SNOMEDCT_US|N|
C0580173|Lumbar spinal stenoses may induce symptoms following an individually typical latency on standing or when walking due to swelling of the cauda equina, which leads to compression. This is referred to as neurogenic claudication. The symptoms of lumbar spinal stenosis can be explained by an increase in lumbar lordosis and spinal canal stenosis in an upright position compared to the sitting position or if spondylolisthesis is present by a shift of the vertebrae while standing and walking. Following an individually characteristic distance, walking becomes associated with deep muscular pain and with neurological deficits, such as sensory deficits and paresis in the lower limbs, which resolve within minutes when the affected person sits or lies down. Activities performed in a flexed posture, such as cycling often cause less problems than walking. For the same reason, walking uphill may be tolerated better than walking downhill. Clinical neurological examination at rest may be entirely normal but there is usually pain on hyperextension of the lumbar spine.|HPO|N|
C0580181|Jessner lymphocytic infiltration of the skin (JLIS) is a chronic benign cutaneous disease characterized by asymptomatic non-scaly erythematous papules or plaques on the face and neck.|ORDO|N|
C0580316|A deviation from the normal range of neutrophil cell counts in the circulation.|HPO|N|
C0580317|Abnormal number of platelets per volume of blood. In a healthy adult, a normal platelet count is between 150,000 and 450,000 per microliter of blood.|HPO|N|
C0580412|Any deviation from the normal amount of time to coagulation in the prothrombin time test, which is a measure of the extrinsic pathway of coagulation. The results of the prothrombin time test are often expressed in terms of the International normalized ratio (INR), which is calculated as a ratio of the patient's prothrombin time (PT) to a control PT standardized for the potency of the thromboplastin reagent developed by the World Health Organization (WHO) using the formula|HPO|N|
C0580413|Abnormally short time to coagulation in the prothrombin time test, which is a measure of the extrinsic pathway of coagulation. The results of the prothrombin time test are often expressed in terms of the International normalized ratio (INR), which is calculated as a ratio of the patient's prothrombin time (PT) to a control PT standardized for the potency of the thromboplastin reagent developed by the World Health Organization (WHO) using the formula|HPO|N|
C0580419|A reduction in the total-iron binding capacity, which measures how much serum iron is bound if an excess of radioactive iron is added. The latent (or free) iron binding capacity is the difference between the TIBC and the measured serum iron, corresponding to the transferrin not bound to iron, i.e., free iron binding capacity.|HPO|N|
C0580438|An anomaly of the circulating level of luteinizing hormone (LH).|HPO|N|
C0580454|An anomalous concentration of testosterone in the blood.|HPO|N|
C0580517|An abnormality of the partial pressure of oxygen in the arterial blood.|HPO|N|
C0580531|Number of leukocytes per volume of blood beyond normal limits.|HPO|N|
C0580547|Any deviation from the normal number of basophils per volume in the blood circulation.|HPO|N|
C0580548|Any deviation from the normal number of red blood cells per volume in the circulation.|HPO|N|
C0580549|A deviation from the normal range of the average amount of hemoglobin per red blood cell (27 to 31 picograms/cell). A reduced mean corpuscular hemoglobin (MCH) may indicate a hypochromic anemia, but the MCH may be normal if both the total hemoglobin and the red blood cell count are reduced.|HPO|N|
C0580550|Any abnormality in the total number of lymphocytes in the blood.|HPO|N|
C0581121|An indication that a patient requests to terminate pregnancy.|NCI|N|
C0581342|Loose and sagging skin often associated with loss of skin elasticity.|HPO|N|
C0581354|A recurrent form of sinusitis.|HPO|N|
C0581366|Repeated infections of the urinary bladder.|HPO|N|
C0581375|There was greater than or equal to 50% stenosis (reduction in cross-sectional area) in two coronary arteries (or greater than or equal to 50% stenosis in the left main coronary artery). (ACC)|NCI|N|
C0581381|An increased susceptibility to upper respiratory tract infections as manifested by a history of recurrent upper respiratory tract infections (running ears - otitis, sinusitis, pharyngitis, tonsillitis).|HPO|N|
C0581388|Improper use of prescription drugs or medications outside the intended purpose, scope, or guidelines for use.|MSH|N|
C0581395|An infectious process affecting the penis.|NCI|N|
C0581883|Total inability to hear sounds in one or both ears.|NCI|N|
C0582147|Potential for the introduction of environmental contaminants or disease-causing organisms.|PNDS|N|
C0582253|An abnormal communication between the jejunum and another organ or cavity.|NCI|N|
C0582456|Increased chance of accidental tissue injury|CCC|N|
C0582885|A hemangioma arising from the gums.|NCI|N|
C0584823|A congenital respiratory tract anomaly characterized by a supraglottic, interarytenoid cleft above the vocal folds with moderate respiratory symptoms.|ORDO|N|
C0584824|A congenital respiratory tract anomaly characterized by a cleft extending below the vocal folds into the cricoid cartilage, with swallowing disorders and lung infections.|ORDO|N|
C0584825|A congenital respiratory tract anomaly characterized by a cleft extending through the cricoid cartilage, sometimes into the cervical trachea, with severe swallowing disorders, lung infections and pulmonary damage.|ORDO|N|
C0584827|A serious congenital respiratory tract anomaly characterized by a cleft extending into the thoracic trachea and possibly down to the carina, with respiratory distress.|ORDO|N|
C0584837|Abnormal narrowing of the choana (the posterior nasal aperture).|HPO|N|
C0584960|An abnormality that refers to mutation of factor V Leiden, which is a variant of human factor V. It results in thrombophilia, deep vein thrombosis, and a slightly increased risk of miscarriage.|NCI|N|
C0585012|Narrowing of the lumen of the stomach.|NCI|N|
C0585048|A partial or complete breakage of the metacarpophalangeal joint.|HPO|N|
C0585129|A sarcoma that occurs in the retroperitoneal region.|NCI|N|
C0585136|holding or keeping within the stomach matter which is normally moved on.|CSP|N|
C0585186|state of altered reactivity in which the body reacts with an exaggerated or inappropriate immune response to a chemical substance having the properties of an antigen or hapten that is in contact with the skin, the resulting skin condition being allergic contact dermatitis.|CSP|N|
C0585216|An acquired form of alpha-thalassemia characterized by a myelodysplastic syndrome (MDS) or more rarely a myeloproliferative disease (MPD) associated with hemoglobin H disease (HbH).|ORDO|N|
C0585265|Partial or complete paralysis of the hypoglossal nerve.|NCI|N|
C0585362|A rare head and neck tumor characterized by a firm infiltrative neoplasm with squamous differentiation, arising from the mucosal epithelium, and most commonly located in the tongue, floor of the mouth, or gingiva, but also the buccal mucosa or any other area of the oral cavity, depending on prevailing risk factors (such as smoking, alcohol consumption, and tobacco chewing). Patients present with a variably white, erythematous, mixed, nodular, or ulcerated lesion, which may cause discomfort, pain, or reduced mobility of the tongue. The tumor is aggressive with a propensity for local invasion and early lymph node metastasis.|ORDO|N|
C0585442|Osteosarcoma is a primary malignant tumour of the skeleton characterised by the direct formation of immature bone or osteoid tissue by the tumour cells.|ORDO|N|
C0585474|A small round cell bone tumor that lacks morphologic, immunohistochemical, and electron microscopic evidence of neuroectodermal differentiation. It represents one of the two ends of the spectrum called Ewing sarcoma/peripheral neuroectodermal tumor. It often affects the diaphysis or metaphyseal-diaphyseal portion of long bones. Clinical findings include pain and a mass in the involved area. Fever, anemia, leukocytosis, and an increased sedimentation rate are often seen. X-ray examination reveals osteolytic lesions. The prognosis depends on the stage, anatomic location, and size of the tumor.|NCI|N|
C0585475|A rare skin tumor characterized by an asymptomatic, solitary, often ulcerated nodule most commonly located in the face, involving the deep dermis, subcutaneous tissue, and skeletal muscle and fascia. Histopathologically, the lesion is composed of aggregates of atypical basaloid cells with numerous mitoses. Typical features include shadow cells, keratin cysts, and trichohyalin and keratohyalin granules. The tumor is locally aggressive and shows a tendency to recur after incomplete excision. Regional lymph node or visceral metastasis has been reported.|ORDO|N|
C0585544|Downbeat nystagmus is a type of fixation nystagmus with the fast phase beating in a downward direction. It generally increases when looking to the side and down and when lying prone.|HPO|N|
C0585545|In primary position, the eyes drift slowly downward and then spontaneously beat upward. Upward gaze accentuates the nystagmus. The associated oscillopsias are often very irritating, but the symptoms are usually transient.|HPO|N|
C0585556|A type of saccadic oscillations with brief periods of fixation between saccades (intersaccadic interval approximately 200 msec). Macrosaccadic oscillations (up to 40 degrees) straddle the intended fixation position and show a crescendo-decrescendo pattern.|HPO|N|
C0585946|A malignant neoplasm that affects the epiglottis. The vast majority of cases are squamous cell carcinomas.|NCI|N|
C0585955|Mild, moderate, or severe dysplasia of the squamous epithelium of the laryngeal mucosa.|NCI|N|
C0586323|A condition where seizures occur in association with ethanol abuse (ALCOHOLISM) without other identifiable causes. Seizures usually occur within the first 6-48 hours after the cessation of alcohol intake, but may occur during periods of alcohol intoxication. Single generalized tonic-clonic motor seizures are the most common subtype, however, STATUS EPILEPTICUS may occur. (Adams et al., Principles of Neurology, 6th ed, p1174)|MSH|N|
C0586354|A lesion that is characterized by architectural and cytologic abnormalities of the esophageal epithelium, and carries a predisposition for progression to invasive carcinoma. Intraepithelial neoplasia (dysplasia) of the esophagus is graded as low or high grade. In this two-tier system, severe dysplasia and carcinoma in situ are included under the rubric of high grade intraepithelial neoplasia and may have the same clinical implications. (WHO, 2000)|NCI|N|
C0586355|A lesion in which the architectural and cytologic abnormalities are confined to the lower half of the esophageal epithelium. (WHO, 2000)|NCI|N|
C0586356|A morphologic finding indicating the presence of moderate dysplastic cellular changes and moderate architectural changes in the epithelium of the esophageal mucosa. There is no evidence of invasion.|NCI|N|
C0586358|A neoplastic, non-invasive lesion that affects the biliary epithelium. It is characterized by the presence of atypical epithelial cells with an increased nuclear/cytoplasmic ratio, nuclear hyperchromasia, and loss of nuclear polarity.|NCI|N|
C0586364|A pancreatic mucinous intraepithelial neoplasia characterized by the presence of papillary and less often flat architectural patterns. Moderate cytological atypia is present with some loss of nuclear polarity, nuclear crowding or hyperchromatism.|NCI|N|
C0586367|A morphologic finding indicating the presence of mild dysplastic cellular changes and mild architectural changes in the glandular epithelium of the colonic mucosa. There is no evidence of invasion.|NCI|N|
C0586368|A morphologic finding indicating the presence of moderate dysplastic cellular changes and moderate architectural changes in the glandular epithelium of the colonic mucosa. There is no evidence of invasion.|NCI|N|
C0586370|A morphologic finding indicating the presence of dysplastic glandular epithelial cells in the rectal mucosa. There is no evidence of invasion.|NCI|N|
C0586371|A morphologic finding indicating the presence of mild dysplastic cellular changes and mild architectural changes in the glandular epithelium of the rectal mucosa. There is no evidence of invasion.|NCI|N|
C0586372|A morphologic finding indicating the presence of moderate dysplastic cellular changes and moderate architectural changes in the glandular epithelium of the rectal mucosa. There is no evidence of invasion.|NCI|N|
C0586553|Increased concentration of thyroid-stimulating hormone (TSH) in the blood circulation.|HPO|N|
C0586559|A lump detected in the prostate. In this context, mass is a general term for a lump or growth that may be caused by the abnormal growth of cells, a cyst, hormonal changes, or an immune reaction.|HPO|N|
C0586737|An abnormal growth that projects from the mucous membrane of the urinary bladder.|HPO|N|
C0586806|To perform one or more operations on information in response to a request by a person appointed as the patient''s legal representative.CHAR(13)|HL7V3.0|N|
C0586989|A highly contagious viral infection caused by the varicella zoster virus. Clinically, it may be manifested as shingles or chicken pox.|NCI|N|
C0587044|A blood clot (thrombus) localized in the left ventricle. Left ventricular thrombus is a serious complication of acute myocardial infarction and also of non-ischemic cardiomyopathies.|HPO|N|
C0587052|An abnormal growth located in the hilum of the lung.|NCI|N|
C0587219|A cystic structure in the tonsillar tissue.|NCI|N|
C0587246|Reduced strength and weakness of the muscles of the arms and legs.|HPO|N|
C0587248|While the majority of individuals with Costello syndrome share characteristic findings affecting multiple organ systems, the phenotypic spectrum is wide, ranging from a milder or attenuated phenotype to a severe phenotype with early lethal complications. Costello syndrome is typically characterized by failure to thrive in infancy as a result of severe postnatal feeding difficulties; short stature; developmental delay or intellectual disability; coarse facial features (full lips, large mouth, full nasal tip); curly or sparse, fine hair; loose, soft skin with deep palmar and plantar creases; papillomata of the face and perianal region; diffuse hypotonia and joint laxity with ulnar deviation of the wrists and fingers; tight Achilles tendons; and cardiac involvement including: cardiac hypertrophy (usually typical hypertrophic cardiomyopathy), congenital heart defect (usually valvar pulmonic stenosis), and arrhythmia (usually supraventricular tachycardia, especially chaotic atrial rhythm/multifocal atrial tachycardia or ectopic atrial tachycardia). Relative or absolute macrocephaly is typical, and postnatal cerebellar overgrowth can result in the development of a Chiari I malformation with associated anomalies including hydrocephalus or syringomyelia. Individuals with Costello syndrome have an approximately 15% lifetime risk for malignant tumors including rhabdomyosarcoma and neuroblastoma in young children and transitional cell carcinoma of the bladder in adolescents and young adults.|GeneReviews|N|
C0587902|A state of the information pertaining to the entity associated with a clinical study protocol indicating whether this information is active or inactive for the purpose of inclusion in the protocol planned activities.|NCI|N|
C0587955|An anomalous finding in the examination of the urine for cells.|HPO|N|
C0588125|A well-circumscribed, lobulated tumor, completely or partially covered by a fibrous capsule. It usually arises in the fingers. It is characterized by the presence of mononuclear cells, multinucleated osteoclast-like giant cells, hemosiderin-laden macrophages, foam cells, and an inflammatory infiltrate. The tumor is slow-growing, usually developing over several years. Clinical presentation includes painless edema of the affected site.|NCI|N|
C0588128|An infectious process involving an implanted medical device and the surrounding tissues.|NCI|N|
C0589608|Tooth can be moved less than 1mm in the buccolingual or mesiodistal directionCHAR(13)|HL7V3.0|N|
C0589609|Tooth can be moved 1mm or more in the buccolingual or mesiodistal direction. No mobility in the occlusoapical direction (vertical mobility).CHAR(13)|HL7V3.0|N|
C0589610|Tooth can be moved 1mm or more in the buccolingual or mesiodistal direction. Mobility in the occlusoapical direction is also present (vertical mobility)CHAR(13)|HL7V3.0|N|
C0595861|A form of self-harm in which someone mimics the act of suicide without the intent to kill themselves.|MSH|N|
C0595939|Death of the fetus in utero after at least 22 weeks of gestation.|HPO|N|
C0595948|An atypical absence seizure is a type of generalized non-motor (absence) seizure characterized by interruption of ongoing activities and reduced responsiveness. In comparison to a typical absence seizure, changes in tone may be more pronounced, onset and/or cessation may be less abrupt, and the duration of the ictus and post-ictal recovery may be longer. Although not always available, an EEG often demonstrates slow (<3 Hz), irregular, generalized spike-wave activity.|HPO|N|
C0595989|A carcinoma of the larynx.|HPO|N|
C0595993|An infection that is due to human herpesvirus (HHV) types 6 or 7; it is characterized by 3-5 days of high fever followed by the acute onset of a rosy, pink, non-pruritic, macular rash that is predominantly on the neck and trunk.|NCI|N|
C0595995|A scoliosis with no known cause.|MONDO|N|
C0596002|see:http://www.nlm.nih.gov/mesh/MBrowser.html|AOT|N|
C0596028|An abnormal anteroposterior extension of the maxillary teeth beyond the plane of the mandibular teeth upon jaw closure.|HPO|N|
C0596032|a deficiency of immune response or a disorder characterized by deficient immune response; classified as antibody (B cell), cellular (T cell), combined deficiency, or phagocytic dysfunction disorders; not genetic in origin, but produced by influences originating outside the organism.|CSP|N|
C0596043|The transfer of ADP-ribose to amino acids within proteins or to the amino group at N2 of a 2''-deoxyguanosine residue in double-stranded DNA.|NCI|N|
C0596046|The presence of a neoplasm of the adrenal medulla.|HPO|N|
C0596074|Amino Acid Biosynthesis consists of cellular enzymatic reactions that produce amino acids, organic compounds containing an amino and a carboxyl group and often used in protein synthesis by the formation of peptide bonds during ribosomal translation of mRNA. Several important amino acids, such as the neurotransmitter g-aminobutyric acid, have other functions than protein synthesis.|NCI|N|
C0596170|Recurrent episodes of over-eating.|NCI|N|
C0596240|Pain associated with cancer or its diagnosis or treatment.|NCI|N|
C0596263|A pathological process in which normal cells are transformed into malignant cancer cells within a primary tumor.|NCI|N|
C0596270|Pathological conditions of the CARDIOVASCULAR SYSTEM caused by infections.|MSH|N|
C0596298|obstruction or closure which causes impairment of blood flow in the arteries and veins which supply the brain.|CSP|N|
C0596321|The study of the processes by which normal cells are transformed into cancer cells by chemicals.|NCI|N|
C0596364|pathologic condition existing at, and usually before, birth affecting the brain, which is composed of the intracranial components of the central nervous system.|CSP|N|
C0596366|abnormal, tangled collections of dilated blood vessels that result from congenitally malformed vascular structures in which arterial afferents flow directly into venous efferents without the usual resistance of an intervening capillary bed; these disorders exist at, and usually before, birth regardless of their causation.|CSP|N|
C0596368|An abnormality of the digestive system that is present at birth or detected in the neonatal period.|NCI|N|
C0596402|The adverse effect of some iatrogenic therapies. It is an accepted side effect in radiation therapy where the desired effect is to kill rapidly growing tumor cells. In the killing of tumor cells, other cells that are rapidly growing e.g hair, mucous membranes are also killed.|NCI|N|
C0596563|Fatty Acid Metabolism involves cellular biotransforming chemical modifications of fatty acids by enzymatic activity.|NCI|N|
C0596624|The release of GLUCOSE from GLYCOGEN by GLYCOGEN PHOSPHORYLASE (phosphorolysis). The released glucose-1-phosphate is then converted to GLUCOSE-6-PHOSPHATE by PHOSPHOGLUCOMUTASE before entering GLYCOLYSIS. Glycogenolysis is stimulated by GLUCAGON or EPINEPHRINE via the activation of PHOSPHORYLASE KINASE.|MSH|N|
C0596722|The efforts by the host to reject a tumor, and the mechanisms by a tumor to evade recognition by the immune system.|NCI|N|
C0596773|A disorder of the brain caused by an infectious agent that presents with fever, headache, and an altered level of consciousness. There may also be focal or multifocal neurologic deficits, and focal or generalized seizure activity.|HPO|N|
C0596793|extravasation of blood localized within the cranial vault frequently induced by penetrating and nonpenetrating traumatic injuries.|CSP|N|
C0596843|The production of fat, either fatty degeneration or fatty infiltration; also applied to the normal deposition of fat or to the conversion of carbohydrate or protein to fat.|NCI|N|
C0596869|A neoplasm involving the lymph node.|NCI|N|
C0596957|The science of simulating the motions of a system of particles. (Karplus and Petsko)|NCI|N|
C0596988|An altered form of an individual, organism, population, or genetic character that differs from the corresponding wild type due to one or more alterations (mutations).|NCI|N|
C0597039|A infectious disease that involves the nervous system.|MONDO|N|
C0597071|sum of chemical changes that occur within the tissues of an organism consisting of anabolism (biosynthesis) and catabolism of nitrogen; the buildup and breakdown of nitrogen for utilization by the organism.|CSP|N|
C0597108|Biosynthesis and catabolism of nucleic acids and their subunits|NCI|N|
C0597167|Hyperplasia of the islets of Langerhans, i.e., of the regions of the pancreas that contain its endocrine cells.|HPO|N|
C0597295|Protein synthesis is the group of processes that are involved in generation of mature protein molecules. Although protein synthesis may involve translation alone in many cases, in others, it involves also protein folding, integration of prosthetic groups, glycosylation, methylation, phosphorylation, lipidation and any other process that may be involved in maturation of the polypeptide to the biologically active form.|NCI|N|
C0597297|The normal ""downside"" of protein steady state metabolism in cells, involving conjugation, transport, oxidation, and proteolysis; not to be confuse with proteolysis, which applies only to peptide bond hydrolysis.|NCI|N|
C0597299|Biosynthesis and catabolism of proteins and their subunits|NCI|N|
C0597300|condition in which there is a deviation or interruption in the processing of proteins in the body: synthesis, absorption, transport, storage, and utilization.|CSP|N|
C0597304|Proteolysis typically involves hydrolysis of specific peptide bond(s) with formation of smaller polypeptides in a target protein during maturation or modification of functional activity. The process may be catalyzed by proteolytic enzymes, by acids, or by bases.|NCI|N|
C0597309|a rare and often fatal acute, febrile, purulent inflammation of the brain and meninges caused by certain usually free-living soil and water amebas.|CSP|N|
C0597358|Receptor Binding involves a temporary non-covalent, typically highly specific and high affinity, interaction through intermolecular physical forces of attraction and spatial complementarity with a diverse group of intrinsic membrane or cytoplasmic proteins that mediate the biological effects of secreted regulatory signaling molecules through modification of the activity of signal transduction pathways.|NCI|N|
C0597520|Steroid Metabolism consists of diverse biochemical reactions that convert steroid compounds, lipids containing a hydrogenated cyclopentanoperhydrophenanthrene ring system, to metabolic derivatives for assorted uses, such as steroid hormone production and biosynthesis of cell membrane constituents.|NCI|N|
C0597559|condition in which there is a deviation from or interruption of the normal structure or function of the white matter of the telencephalon, occurring most frequently in infants and children.|CSP|N|
C0597645|Studies of the role of viruses as factors or cofactors in the etiology of human and animal cancer.|NCI|N|
C0597680|A rating of a body of water based on measurable physical, chemical, and biological characteristics.|MSH|N|
C0598121|Abnormally low glucose concentration in the cerebrospinal fluid.|HPO|N|
C0598221|Congenital protein C deficiency is an inherited coagulation disorder characterized by deep venous thrombosis symptoms due to reduced synthesis and/or activity levels of protein C.|ORDO|N|
C0598226|Autosomal recessive congenital ichthyosis (ARCI) encompasses several forms of nonsyndromic ichthyosis. Although most neonates with ARCI are collodion babies, the clinical presentation and severity of ARCI may vary significantly, ranging from harlequin ichthyosis, the most severe and often fatal form, to lamellar ichthyosis (LI) and (nonbullous) congenital ichthyosiform erythroderma (CIE). These phenotypes are now recognized to fall on a continuum; however, the phenotypic descriptions are clinically useful for clarification of prognosis and management. Infants with harlequin ichthyosis are usually born prematurely and are encased in thick, hard, armor-like plates of cornified skin that severely restrict movement. Life-threatening complications in the immediate postnatal period include respiratory distress, feeding problems, and systemic infection. Collodion babies are born with a taut, shiny, translucent or opaque membrane that encases the entire body and lasts for days to weeks. LI and CIE are seemingly distinct phenotypes: classic, severe LI with dark brown, plate-like scale with no erythroderma and CIE with finer whiter scale and underlying generalized redness of the skin. Affected individuals with severe involvement can have ectropion, eclabium, scarring alopecia involving the scalp and eyebrows, and palmar and plantar keratoderma. Besides these major forms of nonsyndromic ichthyosis, a few rare subtypes have been recognized, such as bathing suit ichthyosis, self-improving collodion ichthyosis, or ichthyosis-prematurity syndrome.|GeneReviews|N|
C0598275|Diffuse unlocalised atrophy affecting the cerebrum.|HPO|N|
C0598428|persistently high arterial blood pressure occurring in or affecting more members of a family than would be expected by chance.|CSP|N|
C0598435|Covalent attachment of PALMITIC ACIDS to other compounds and PROTEINS.|MSH|N|
C0598463|Ability regarding basic physical and cognitive activities such as walking or reaching, focusing attention, and communicating, as well as the routine activities of daily living, including eating, bathing, dressing, transferring, and toileting; and life situations such as school or play for children and, for adults, work outside the home or maintaining a household. (from https://www.ncvhs.hhs.gov/wp-content/uploads/2017/08/010617rp.pdf)|MSH|N|
C0598528|nonenzymically catalyzed glycosylation reaction important in diabetes mellitus, where hemoglobin, crystallin, and other proteins may be damaged by glycation; advanced glycosylation end-products (AGEs) are glycation-crosslinked protein complexes.|CSP|N|
C0598589|A hereditary disorder that affects the sensory and/or motor nerves or the autonomic nerves.|NCI|N|
C0598608|Hyperhomocysteinemia refers to above-normal concentrations of plasma/serum homocysteine. Plasma/serum homocysteine is the sum of the thiol-containing amino acid homocysteine and the homocysteinyl moiety of the disulfides homocystine and cysteine-homocysteine, whether free or bound to proteins (Malinow and Stampfer, 1994).
Hyperhomocysteinemia in isolation may be associated with an increased risk of atherosclerosis and recurrent arterial and venous thrombosis usually in the third or fourth decade of life (review by Welch and Loscalzo, 1998).
Homocysteinemia is also a feature of several inherited metabolic disorders, including homocystinuria (236200), due to mutation in the CBS gene (613381), and N(5,10)-methylenetetrahydrofolate reductase deficiency (236250), caused by mutation in the MTHFR gene (607093). Homocysteinemia/homocystinuria and megaloblastic anemia can result from defects in vitamin B12 (cobalamin; cbl) metabolism, which have been classified according to complementation groups of cells in vitro; see cblE (236270) and cblG (250940). See also the various forms of combined methylmalonic aciduria (MMA) and homocystinuria due to disorders of cobalamin: cblC (277400), cblD (277410), and cblF (277380).|OMIM|N|
C0598766|The causation (or induction), development, and progression of a leukaemic disease.|NCI|N|
C0598783|Anabolic and catabolic biochemical changes to lipids within a cell as materials needed for important life processes.|NCI|N|
C0598790|A malignant mesenchymal neoplasm that arises from the lung. Representative examples include Kaposi sarcoma, leiomyosarcoma, and synovial sarcoma.|NCI|N|
C0598798|A neoplasm composed of a lymphocytic cell population which is usually malignant (clonal) by molecular genetic and/or immunophenotypic analysis. Lymphocytic neoplasms include Hodgkin and non-Hodgkin lymphomas, acute and chronic lymphocytic leukemias, and plasma cell neoplasms.|NCI|N|
C0598864|Removal of one or more methyl groups from a chemical compound.|MSH|N|
C0598935|The first stage of tumor induction by a carcinogen, consisting of subtle alteration of cells by exposure to a carcinogenic agent so that they are likely to form a tumor upon subsequent exposure to a promoting agent. (NCI)|NCI|N|
C0599035|Gyrate atrophy of the choroid and retina, which is often shortened to gyrate atrophy, is an inherited disorder characterized by progressive vision loss. People with this disorder have an ongoing loss of cells (atrophy) in the retina, which is the specialized light-sensitive tissue that lines the back of the  eye, and in a nearby tissue layer called the choroid. During childhood, they begin experiencing nearsightedness (myopia), difficulty seeing in low light (night blindness), and loss of side (peripheral) vision. Over time, their field of vision continues to narrow, resulting in tunnel vision. Many people with gyrate atrophy also develop clouding of the lens of the eyes (cataracts). These progressive vision changes lead to blindness by about the age of 50.\n\nMost people with gyrate atrophy have no symptoms other than vision loss, but some have additional features of the disorder. Occasionally, newborns with gyrate atrophy develop excess ammonia in the blood (hyperammonemia),  which may lead to poor feeding, vomiting, seizures, or coma. Neonatal hyperammonemia associated with gyrate atrophy generally responds quickly to treatment and does not recur after the newborn period.\n\nGyrate atrophy usually does not affect intelligence; however, abnormalities may be observed in brain imaging or other neurological testing. In some cases, mild to moderate intellectual disability is associated with gyrate atrophy.\n\nGyrate atrophy may also cause disturbances in the nerves connecting the brain and spinal cord to muscles and sensory cells (peripheral nervous system). In some people with the disorder these abnormalities lead to numbness, tingling, or pain in the hands or feet, while in others they are detectable only by electrical testing of the nerve impulses.\n\nIn some people with gyrate atrophy, a particular type of muscle fibers (type II fibers) break down over time. While this muscle abnormality usually causes no symptoms, it may result in mild weakness.|MedlinePlus Genetics|N|
C0599130|A metabolic process in which carbon (usually derived from carbon dioxide) is incorporated into organic compounds (usually carbohydrates). [GOC:jl, GOC:mah]|GO|N|
C0599156|A relatively common point mutation in which a purine is exchanged for a nonidentical purine or a pyrimidine is exchanged for a nonidentical pyrimidine. Base mispairing and mutagenic chemicals including nitrous acid and 5-bromo-2-deoxyuridine can result in transitions.|NCI|N|
C0599157|A relatively less common point mutation in which a purine is exchanged for a pyrimidine or a pyrimidine is exchanged for a purine.|NCI|N|
C0599766|A partial or complete return to the normal or proper physiologic activity of an organ or part following disease or trauma.|MSH|N|
C0599973|Ophthalmo-acromelic syndrome is a condition that results in malformations of the eyes, hands, and feet. The features of this condition are present from birth. The eyes are often absent or severely underdeveloped (anophthalmia), or they may be abnormally small (microphthalmia). Usually both eyes are similarly affected in this condition, but if only one eye is small or missing, the other eye may have a defect such as a gap or split in its structures (coloboma).\n\nThe most common hand and foot malformation seen in ophthalmo-acromelic syndrome is missing fingers or toes (oligodactyly). Other frequent malformations include fingers or toes that are fused together (syndactyly) or extra fingers or toes (polydactyly). These skeletal malformations are often described as acromelic, meaning that they occur in the bones that are away from the center of the body. Additional skeletal abnormalities involving the long bones of the arms and legs or the spinal bones (vertebrae) can also occur. Affected individuals may have distinctive facial features, an opening in the lip (cleft lip) with or without an opening in the roof of the mouth (cleft palate), or intellectual disability.|MedlinePlus Genetics|N|
C0600031|Absence (aplasia) of the spleen.|HPO|N|
C0600041|An infectious process affecting the urinary bladder.|NCI|N|
C0600049|The primary sore of syphilis, a painless indurated, eroded papule, occurring at the site of entry of the infection.|MONDO|N|
C0600066|A phyllodes tumor with sarcomatous stroma. The sarcomatous component is usually of the fibrosarcomatous type. Liposarcomatous, chondrosarcomatous, osteosarcomatous, or rhabdomyosarcomatous differentiation may also occur in the stroma. It may recur and metastasize following surgical resection. The lung and skeleton are the anatomic sites most frequently involved by metastases.|NCI|N|
C0600079|A carcinoma of the ureter. The majority of ureter carcinomas are transitional cell and less frequently squamous cell carcinomas or adenocarcinomas.|NCI|N|
C0600104|Behavior that consists of repetitive acts, characterized by the feeling that one "has to" perform them, while being aware that these acts are not in line with one's overall goal.|HPO|N|
C0600106|A partial or complete breakage of the elbow.|HPO|N|
C0600113|A benign or malignant neoplasm that arises from the ovary and is composed of granulosa cells, Sertoli cells, Leydig cells, theca cells, and fibroblasts.|HPO|N|
C0600125|Increased time for the PR interval (beginning of the P wave to the beginning of the QRS complex).|HPO|N|
C0600139|One of the most common malignant tumors afflicting men. The majority of carcinomas arise in the peripheral zone and a minority occur in the central or the transitional zone of the prostate gland. Grossly, prostatic carcinomas appear as ill-defined yellow areas of discoloration in the prostate gland lobes. Adenocarcinomas represent the overwhelming majority of prostatic carcinomas. Prostatic-specific antigen (PSA) serum test is widely used as a screening test for the early detection of prostatic carcinoma. Treatment options include radical prostatectomy, radiation therapy, androgen ablation and cryotherapy. Watchful waiting or surveillance alone is an option for older patients with low-grade or low-stage disease.|NCI|N|
C0600142|Sudden feelings of warmth that are generally most pronounced over the face, neck and chest.|HPO|N|
C0600176|A carcinoid tumor that shows atypical characteristics and has borderline malignant potential.|NCI|N|
C0600220|The health status of the family as a unit including the impact of the health of one member of the family on the family as a unit and on individual family members; also, the impact of family organization or disorganization on the health status of its members.|MSH|N|
C0600228|Cessation of breathing and/or cardiac function.|NCI|N|
C0600260|Any disorder marked by obstruction of conducting airways of the lung. AIRWAY OBSTRUCTION may be acute, chronic, intermittent, or persistent.|MSH|N|
C0600297|A granuloma located at the root apex of a tooth.|NCI|N|
C0600298|A localized aggressive periodontitis, formerly called localized juvenile periodontitis. It is a destructive form of periodontitis characterized by ALVEOLAR BONE LOSS of the MOLARS and INCISORS.|MSH|N|
C0600327|Bacterial toxic shock syndrome (TSS) is a potentially fatal, acute disease characterized by a sudden onset of high fever along with nausea, myalgia, vomiting and multisystem organ involvement, potentially leading to shock and death. TSS is mediated by superantigenic toxins, usually caused by an infection with <i>Staphylococcus aureus</i> in staphylococcal TSS (see this term) or <i>Streptococcus pyogenes</i> in streptococcal TSS (see this term).|ORDO|N|
C0600336|Subcorneal pustular dermatosis is a rare, benign, chronic disease characterized by sterile pustular eruption, typically involving the flexural sites of the trunk and proximal extremities.|ORDO|N|
C0600427|Addiction to cocaine.|HPO|N|
C0600433|Poor anticoagulant response to activated protein C. A plasma is termed 'APC resistant' when the addition of exogenous APC fails to prolong its clotting time in an activated partial thromboplastin time assay.|HPO|N|
C0600436|Pairing of purine and pyrimidine bases by HYDROGEN BONDING in double-stranded DNA or RNA.|MSH|N|
C0600448|The joining of RNA from two different genes. One type of trans-splicing is the ""spliced leader"" type (primarily found in protozoans such as trypanosomes and in lower invertebrates such as nematodes) which results in the addition of a capped, noncoding, spliced leader sequence to the 5'' end of mRNAs. Another type of trans-splicing is the ""discontinuous group II introns"" type (found in plant/algal chloroplasts and plant mitochondria) which results in the joining of two independently transcribed coding sequences. Both are mechanistically similar to conventional nuclear pre-mRNA cis-splicing. Mammalian cells are also capable of trans-splicing.|MSH|N|
C0600452|Hepatopulmonary syndrome (HPS) is a lung disease characterized by widening of arteries and veins (dilatation) in the lungs in people who have chronic liver disease. Because of the dilated vases, the workload of the heart increases and the blood pumped to the body does not have enough oxygen, leading to a decreased level of oxygen in the blood (hypoxemia). The normal diameter of the lung vessels ranges between 8 and 15 µm whereas when in HPS rises to between 15 and 500 µm. While many people with HPS don't have any obvious problems, the main reported symptom is shortness of breath (dyspnea) that is worse when standing or sitting up, and is relieved when lying down (platypnea). Symptoms related to chronic liver disease (generally cirrhosis) include small red spots on the skin (spider angiomas) and abnormal vascular dilatations. Some other symptoms that have been described are infections in the brain (brain abscesses), brain bleeding and an increased number of red blood cells in the blood (polycythemia). There is currently no effective medication for HPS. Oxygen therapy may improve the breathing in some cases. Liver transplant is an efficient treatment which improves the symptoms, even in severe cases.|MONDO|N|
C0600457|A woman who currently is pregnant or has been in the past, irrespective of the pregnancy outcome.|NCI|N|
C0600498|A type of autosomal dominant inheritance involving a gene that exhibits anticipation, the increase in severity and/or an earlier age of onset in subsequent generations.|HPO|N|
C0600501|The presence of an uncomplimentary base in double-stranded DNA caused by spontaneous deamination of cytosine or adenine, mismatching during homologous recombination, or errors in DNA replication. Multiple, sequential base pair mismatches lead to formation of heteroduplex DNA; (NUCLEIC ACID HETERODUPLEXES).|MSH|N|
C0600502|Pathological processes involving the integrity of blood circulation. Hemostasis depends on the integrity of blood vessels, blood fluidity, and blood coagulation. Majority of the hemostatic disorders are caused by disruption of the normal interaction between the vascular endothelium, the plasma proteins (including blood coagulation factors), and platelets.|MONDO|N|
C0600503|Congenital or acquired deficiency of one of the coagulation factors. It results in bleeding.|MONDO|N|
C0600513|The simultaneous or sequential binding of multiple cell surface receptors to different ligands resulting in coordinated stimulation or suppression of signal transduction.|MSH|N|
C0600518|Choroidal neovascularization (CNV) is the creation of new blood vessels in the choroid layer of the eye.|HPO|N|
C0600599|A mode of inheritance that depends on genetic determinants in more than one gene.|HPO|N|
C0677041|A neoplasm which, on morphologic grounds, can not be classified with certainty as benign or malignant.|NCI|N|
C0677055|A group of rare tumors of the vulva comprising HPV-associated and HPV-independent squamous cell carcinomas as the most frequent malignant vulvar tumors, basal cell carcinomas, adenocarcinomas, and Bartholin gland carcinomas. Depending on the type of tumor and disease stage, patients may present with a painless vulvar mass or ulcer, or with pruritus, a burning sensation, pain, or bleeding.|ORDO|N|
C0677598|The presence of erythrocytes with a mouth-shaped (stoma) area of central pallor on peripheral blood smear.|HPO|N|
C0677600|Inspiratory stridor is a high pitched sound upon inspiration that is generally related to laryngeal abnormalities.|HPO|N|
C0677607|Hashimoto's disease is a condition that affects the function of the thyroid, which is a butterfly-shaped gland in the lower neck. The thyroid makes hormones that help regulate a wide variety of critical body functions. For example, thyroid hormones influence growth and development, body temperature, heart rate, menstrual cycles, and weight. Hashimoto's disease is a form of chronic inflammation that can damage the thyroid, reducing its ability to produce hormones.\n\nOne of the first signs of Hashimoto's disease is an enlargement of the thyroid called a goiter. Depending on its size, the enlarged thyroid can cause the neck to look swollen and may interfere with breathing and swallowing. As damage to the thyroid continues, the gland can shrink over a period of years and the goiter may eventually disappear.\n\nOther signs and symptoms resulting from an underactive thyroid can include excessive tiredness (fatigue), weight gain or difficulty losing weight, hair that is thin and dry, a slow heart rate, joint or muscle pain, and constipation. People with Hashimoto's disease may also have a pale, puffy face and feel cold even when others around them are warm. Affected women can have heavy or irregular menstrual periods and difficulty conceiving a child (impaired fertility). Difficulty concentrating and depression can also be signs of a shortage of thyroid hormones.\n\nHashimoto's disease usually appears in mid-adulthood, although it can occur earlier or later in life. Its signs and symptoms tend to develop gradually over months or years.|MedlinePlus Genetics|N|
C0677608|Hamartoma-like growth in the placenta consisting of blood vessels.|HPO|N|
C0677628|Drusen (singular, 'druse') are tiny yellow or white accumulations of extracellular material (lipofuscin) that build up in Bruch's membrane of the eye. This class refers to the presence of Drusen in the macula.|HPO|N|
C0677660|A perceived issue with a person''s emotional wellbeing.|NCI|N|
C0677682|Ann Arbor Classification: Stage I: Involvement of a single lymph node region (I); or localized involvement of a single extralymphatic organ or site in the absence of any lymph node involvement (IE).|NCI|N|
C0677683|Ann Arbor Classification: Stage I: Involvement of a single lymph node region (I); or localized involvement of a single extralymphatic organ or site in the absence of any lymph node involvement (IE).|NCI|N|
C0677684|Ann Arbor Classification: Stage I: Involvement of a single lymph node region (I); or localized involvement of a single extralymphatic organ or site in the absence of any lymph node involvement (IE).|NCI|N|
C0677685|Stage II: Involvement of two or more lymph node regions on the same side of the diaphragm (II) or localized involvement of a single associated extralymphatic organ or site and its regional lymph nodes with or without other lymph node regions on the same side of the diaphragm (IIE). Note: The number of lymph node regions involved may be indicated by a subscript (e.g., II3). (from PDQ)|NCI|N|
C0677686|Stage II: Involvement of two or more lymph node regions on the same side of the diaphragm (II) or localized involvement of a single associated extralymphatic organ or site and its regional lymph nodes with or without other lymph node regions on the same side of the diaphragm (IIE). Note: The number of lymph node regions involved may be indicated by a subscript (e.g., II3). (from PDQ)|NCI|N|
C0677687|Ann Arbor Classification: Stage II: Involvement of two or more lymph node regions on the same side of the diaphragm (II); or localized involvement of a single extralymphatic organ or site in association with regional lymph node involvement with or without involvement of other lymph node regions on the same side of the diaphragm (IIE).|NCI|N|
C0677688|Ann Arbor Classification: Stage II: Involvement of two or more lymph node regions on the same side of the diaphragm (II); or localized involvement of a single extralymphatic organ or site in association with regional lymph node involvement with or without involvement of other lymph node regions on the same side of the diaphragm (IIE).|NCI|N|
C0677689|Ann Arbor Classification: Stage II: Involvement of two or more lymph node regions on the same side of the diaphragm (II); or localized involvement of a single extralymphatic organ or site in association with regional lymph node involvement with or without involvement of other lymph node regions on the same side of the diaphragm (IIE).|NCI|N|
C0677690|Stage II: Involvement of two or more lymph node regions on the same side of the diaphragm (II) or localized involvement of a single associated extralymphatic organ or site and its regional lymph nodes with or without other lymph node regions on the same side of the diaphragm (IIE). Note: The number of lymph node regions involved may be indicated by a subscript (e.g., II3). (from PDQ).|NCI|N|
C0677691|Stage II: Involvement of two or more lymph node regions on the same side of the diaphragm (II) or localized involvement of a single associated extralymphatic organ or site and its regional lymph nodes with or without other lymph node regions on the same side of the diaphragm (IIE). Note: The number of lymph node regions involved may be indicated by a subscript (e.g., II3). (from PDQ)|NCI|N|
C0677692|Ann Arbor Classification: Stage II: Involvement of two or more lymph node regions on the same side of the diaphragm (II); or localized involvement of a single extralymphatic organ or site in association with regional lymph node involvement with or without involvement of other lymph node regions on the same side of the diaphragm (IIE).|NCI|N|
C0677693|Ann Arbor Classification: Stage II: Involvement of two or more lymph node regions on the same side of the diaphragm (II); or localized involvement of a single extralymphatic organ or site in association with regional lymph node involvement with or without involvement of other lymph node regions on the same side of the diaphragm (IIE).|NCI|N|
C0677695|Ann Arbor Classification: Stage II: Involvement of two or more lymph node regions on the same side of the diaphragm (II); or localized involvement of a single extralymphatic organ or site in association with regional lymph node involvement with or without involvement of other lymph node regions on the same side of the diaphragm (IIE).|NCI|N|
C0677696|Stage II: Involvement of two or more lymph node regions on the same side of the diaphragm (II) or localized involvement of a single associated extralymphatic organ or site and its regional lymph nodes with or without other lymph node regions on the same side of the diaphragm (IIE). Note: The number of lymph node regions involved may be indicated by a subscript (e.g., II3). (from PDQ)|NCI|N|
C0677697|Stage II: Involvement of two or more lymph node regions on the same side of the diaphragm (II) or localized involvement of a single associated extralymphatic organ or site and its regional lymph nodes with or without other lymph node regions on the same side of the diaphragm (IIE). Note: The number of lymph node regions involved may be indicated by a subscript (e.g., II3). (from PDQ)|NCI|N|
C0677699|Stage II: Involvement of two or more lymph node regions on the same side of the diaphragm (II) or localized involvement of a single associated extralymphatic organ or site and its regional lymph nodes with or without other lymph node regions on the same side of the diaphragm (IIE). Note: The number of lymph node regions involved may be indicated by a subscript (e.g., II3). (from PDQ)|NCI|N|
C0677700|Stage II: Involvement of two or more lymph node regions on the same side of the diaphragm (II) or localized involvement of a single associated extralymphatic organ or site and its regional lymph nodes with or without other lymph node regions on the same side of the diaphragm (IIE). Note: The number of lymph node regions involved may be indicated by a subscript (e.g., II3). (from PDQ)|NCI|N|
C0677701|Stage II: Involvement of two or more lymph node regions on the same side of the diaphragm (II) or localized involvement of a single associated extralymphatic organ or site and its regional lymph nodes with or without other lymph node regions on the same side of the diaphragm (IIE). Note: The number of lymph node regions involved may be indicated by a subscript (e.g., II3). (from PDQ)|NCI|N|
C0677702|Stage II: Involvement of two or more lymph node regions on the same side of the diaphragm (II) or localized involvement of a single associated extralymphatic organ or site and its regional lymph nodes with or without other lymph node regions on the same side of the diaphragm (IIE). Note: The number of lymph node regions involved may be indicated by a subscript (e.g., II3). (from PDQ)|NCI|N|
C0677703|Stage II: Involvement of two or more lymph node regions on the same side of the diaphragm (II) or localized involvement of a single associated extralymphatic organ or site and its regional lymph nodes with or without other lymph node regions on the same side of the diaphragm (IIE). Note: The number of lymph node regions involved may be indicated by a subscript (e.g., II3). (from PDQ)|NCI|N|
C0677704|Stage II: Involvement of two or more lymph node regions on the same side of the diaphragm (II) or localized involvement of a single associated extralymphatic organ or site and its regional lymph nodes with or without other lymph node regions on the same side of the diaphragm (IIE). Note: The number of lymph node regions involved may be indicated by a subscript (e.g., II3). (from PDQ)|NCI|N|
C0677705|Stage II: Involvement of two or more lymph node regions on the same side of the diaphragm (II) or localized involvement of a single associated extralymphatic organ or site and its regional lymph nodes with or without other lymph node regions on the same side of the diaphragm (IIE). Note: The number of lymph node regions involved may be indicated by a subscript (e.g., II3). (from PDQ)|NCI|N|
C0677706|Stage II: Involvement of two or more lymph node regions on the same side of the diaphragm (II) or localized involvement of a single associated extralymphatic organ or site and its regional lymph nodes with or without other lymph node regions on the same side of the diaphragm (IIE). Note: The number of lymph node regions involved may be indicated by a subscript (e.g., II3). (from PDQ)|NCI|N|
C0677707|Stage II: Involvement of two or more lymph node regions on the same side of the diaphragm (II) or localized involvement of a single associated extralymphatic organ or site and its regional lymph nodes with or without other lymph node regions on the same side of the diaphragm (IIE). Note: The number of lymph node regions involved may be indicated by a subscript (e.g., II3). (from PDQ)|NCI|N|
C0677709|Ann Arbor Classification: Stage II: Involvement of two or more lymph node regions on the same side of the diaphragm (II); or localized involvement of a single extralymphatic organ or site in association with regional lymph node involvement with or without involvement of other lymph node regions on the same side of the diaphragm (IIE).|NCI|N|
C0677710|Stage II: Involvement of two or more lymph node regions on the same side of the diaphragm (II) or localized involvement of a single associated extralymphatic organ or site and its regional lymph nodes with or without other lymph node regions on the same side of the diaphragm (IIE). Note: The number of lymph node regions involved may be indicated by a subscript (e.g., II3). (from PDQ)|NCI|N|
C0677711|Stage II: Involvement of two or more lymph node regions on the same side of the diaphragm (II) or localized involvement of a single associated extralymphatic organ or site and its regional lymph nodes with or without other lymph node regions on the same side of the diaphragm (IIE). Note: The number of lymph node regions involved may be indicated by a subscript (e.g., II3). (from PDQ)|NCI|N|
C0677712|Ann Arbor Classification: Stage III: Involvement of lymph node regions on both sides of the diaphragm (III), which also may be accompanied by extralymphatic extension in association with adjacent lymph node involvement (IIIE) or by involvement of the spleen (IIIS) or both (IIIE,S).|NCI|N|
C0677714|Ann Arbor Classification: Stage III: Involvement of lymph node regions on both sides of the diaphragm (III), which also may be accompanied by extralymphatic extension in association with adjacent lymph node involvement (IIIE) or by involvement of the spleen (IIIS) or both (IIIE,S).|NCI|N|
C0677718|Ann Arbor Classification: Stage III: Involvement of lymph node regions on both sides of the diaphragm (III), which also may be accompanied by extralymphatic extension in association with adjacent lymph node involvement (IIIE) or by involvement of the spleen (IIIS) or both (IIIE,S).|NCI|N|
C0677719|Ann Arbor Classification: Stage IV: Diffuse or disseminated involvement of one or more extralymphatic organs, with or without associated lymph node involvement; or isolated extralymphatic organ involvement in the absence of adjacent regional lymph node involvement, but in conjunction with disease in distant site(s); or any involvement of the liver or bone marrow, lungs (other than by direct extension from another site), or cerebrospinal fluid.|NCI|N|
C0677721|Ann Arbor Classification: Stage IV: Diffuse or disseminated involvement of one or more extralymphatic organs, with or without associated lymph node involvement; or isolated extralymphatic organ involvement in the absence of adjacent regional lymph node involvement, but in conjunction with disease in distant site(s); or any involvement of the liver or bone marrow, lungs (other than by direct extension from another site), or cerebrospinal fluid.|NCI|N|
C0677722|Ann Arbor Classification: Stage IV: Diffuse or disseminated involvement of one or more extralymphatic organs, with or without associated lymph node involvement; or isolated extralymphatic organ involvement in the absence of adjacent regional lymph node involvement, but in conjunction with disease in distant site(s); or any involvement of the liver or bone marrow, lungs (other than by direct extension from another site), or cerebrospinal fluid.|NCI|N|
C0677723|The reemergence of indolent non-Hodgkin lymphoma in adults after a period of remission.|NCI|N|
C0677725|The reemergence of a mantle cell lymphoma after a period of remission.|NCI|N|
C0677726|The reemergence of an aggressive adult non-Hodgkin lymphoma after a period of remission.|NCI|N|
C0677728|An indolent non-Hodgkin lymphoma occurring in adults. Representative examples include small lymphocytic lymphoma, lymphoplasmacytic lymphoma/Waldenstrom''s macroglobulinemia, marginal zone B-cell lymphoma, and grade 1 and 2 follicular lymphoma.|NCI|N|
C0677730|An aggressive non-Hodgkin lymphoma occurring in adults. Representative examples include Burkitt lymphoma, precursor B-lymphoblastic lymphoma, precursor T-lymphoblastic lymphoma, and adult T-cell lymphoma/leukemia.|NCI|N|
C0677745|Ann Arbor Classification: Stage II: Involvement of two or more lymph node regions on the same side of the diaphragm (II); or localized involvement of a single extralymphatic organ or site in association with regional lymph node involvement with or without involvement of other lymph node regions on the same side of the diaphragm (IIE).|NCI|N|
C0677776|BRCA1- and BRCA2-associated hereditary breast and ovarian cancer (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (including fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. The risk of developing an associated cancer varies depending on whether HBOC is caused by a BRCA1 or BRCA2 pathogenic variant.|GeneReviews|N|
C0677779|Familial embryonal neoplasm derived from nephrogenic blastemal cells. Several lines of differentiation, including blastemal, stromal and epithelial, are usually expressed. Comprises approximately 1% of Wilms tumors. (AFIP fascicle version 2.0)|NCI|N|
C0677861|A malignant neoplasm that affects both sides of an organ in a simultaneous or non-simultaneous manner.|NCI|N|
C0677865|A glioma affecting the brainstem.|HPO|N|
C0677866|A benign or malignant neoplasm that affects the brain stem.|NCI|N|
C0677874|The disappearance of all signs of cancer in response to treatment.|NCI|N|
C0677898|Cancer that has spread beyond the layer of tissue in which it developed and is growing into surrounding, healthy tissues.|NCI|N|
C0677930|A tumor at the original site of origin.|NCI|N|
C0677936|A malignant neoplasm that does not respond to treatment.|NCI|N|
C0677946|A disease that is neither decreasing nor increasing in extent or severity.|NCI|N|
C0677951|Ann Arbor Classification: Stage I: Involvement of a single lymph node region (I); or localized involvement of a single extralymphatic organ or site in the absence of any lymph node involvement (IE) (rare in Hodgkin lymphoma).|NCI|N|
C0677952|Ann Arbor Classification: Stage II: Involvement of two or more lymph node regions on the same side of the diaphragm (II); or localized involvement of a single extralymphatic organ or site in association with regional lymph node involvement with or without involvement of other lymph node regions on the same side of the diaphragm (IIE).|NCI|N|
C0677954|Ann Arbor Classification: Stage IV: Diffuse or disseminated involvement of one or more extralymphatic organs, with or without associated lymph node involvement; or isolated extralymphatic organ involvement in the absence of adjacent regional lymph node involvement, but in conjunction with disease in distant site(s); or any involvement of the liver or bone marrow, lungs (other than by direct extension from another site), or cerebrospinal fluid.|NCI|N|
C0677955|Ann Arbor Classification: Stage I: Involvement of a single lymph node region (I); or localized involvement of a single extralymphatic organ or site in the absence of any lymph node involvement (IE).|NCI|N|
C0677956|Ann Arbor Classification: Stage II: Involvement of two or more lymph node regions on the same side of the diaphragm (II); or localized involvement of a single extralymphatic organ or site in association with regional lymph node involvement with or without involvement of other lymph node regions on the same side of the diaphragm (IIE). The number of regions involved may be indicated by a subscript (e.g., II3).|NCI|N|
C0677957|Ann Arbor Classification: Stage III: Involvement of lymph node regions on both sides of the diaphragm (III), which also may be accompanied by extralymphatic extension in association with adjacent lymph node involvement (IIIE) or by involvement of the spleen (IIIS) or both (IIIE,S).|NCI|N|
C0677958|Ann Arbor Classification: Stage IV: Diffuse or disseminated involvement of one or more extralymphatic organs, with or without associated lymph node involvement; or isolated extralymphatic organ involvement in the absence of adjacent regional lymph node involvement, but in conjunction with disease in distant site(s); or any involvement of the liver or bone marrow, lungs (other than by direct extension from another site), or cerebrospinal fluid.|NCI|N|
C0677967|A term that refers to the staging of prostate carcinoma according to the Whitmore-Jewett staging system.|NCI|N|
C0677984|A malignant neoplasm that has spread from its original site of growth to nearby tissues or lymph nodes.|NCI|N|
C0678034|A clinical finding that a lymph node is free from cancer spread.|NCI|N|
C0678050|Stage I includes: T1, N0, M0. T1: Tumor 5 cm or less in greatest dimension, no extra-adrenal invasion. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C0678051|Stage II includes: T2, N0, M0. T2: Tumor greater than 5 cm, no extra-adrenal invasion. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C0678052|Stage III includes: (T1, N1, M0); (T2, N1, M0); (T3, N0, M0). T1: Tumor 5 cm or less in greatest dimension, no extra-adrenal invasion. T2: Tumor greater than 5 cm, no extra-adrenal invasion. T3: Tumor of any size with local invasion, but not invading adjacent organs. N1: Metastasis in regional lymph node(s). N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C0678053|Stage IV includes: (T3, N1, M0); (T4, N0, M0); (T4, N1, M0); (Any T, Any N, M1). T3: Tumor of any size with local invasion, but not invading adjacent organs. T4: Tumor of any size with invasion of adjacent organs. N1: Metastasis in regional lymph node(s). N0: No regional lymph node metastasis. M0: No distant metastasis. M1: Distant metastasis. (AJCC 7th ed.)|NCI|N|
C0678213|A form of hydatiform mole characterized by abnormal hyperplastic trophoblasts and hydropic villi due to fertilization of an enucleated ovocyte by one or two haploid spermatozoa that can manifest with vaginal bleeding accompanied by nausea and frequent vomiting, hyperemesis gravidarum, risk of spontaneous miscarriage, hyperthyroidism, and has the potential of developing into choriocarcinoma.|ORDO|N|
C0678222|The presence of a carcinoma of the breast.|HPO|N|
C0678230|Epicanthus is a condition in which a fold of skin stretches from the upper to the lower eyelid, partially covering the inner canthus. Usher (1935) noted that epicanthus is a normal finding in the fetus of all races. Epicanthus also occurs in association with hereditary ptosis (110100).|OMIM|N|
C0678236|A disease that affects fewer than 200,000 people in the United States.|NCI|N|
C0678803|Contact with a chemical substance through touch, inhalation, or ingestion.|NCI|N|
C0679027|The ability or capacity of a listener to perceive fine detail.|PSY|N|
C0679048|A series of thoughts that are difficult to suppress and may be a consequence or cause of anxiety.|NCI|N|
C0679136|Low self-confidence and excessively critical feelings about oneself characterize a negative opinion about oneself.|HPO|N|
C0679145|Persistent pattern of failure to control intense, repetitive sexual impulses or urges resulting in repetitive sexual behavior. Symptoms may include repetitive sexual activities becoming a central focus of the person''s life to the point of neglecting health and personal care or other interests, activities and responsibilities; numerous unsuccessful efforts to significantly reduce repetitive sexual behavior; and continued repetitive sexual behavior despite adverse consequences or deriving little or no satisfaction from it. (https://icd.who.int/browse11/l-m/en#/http://id.who.int/icd/entity/1630268048)|MSH|N|
C0679247|An illness that has a prognosis of death.|NCI|N|
C0679347|A tumor (abnormal growth of tissue) of the genital system.|HPO|N|
C0679362|A type of tubercular infection located outside of the lung, which is the most common location of tuberculosis. There are two types of clinical manifestation of tuberculosis (TB) are pulmonary TB (PTB) and extrapulmonary TB (EPTB). The former is most common. EPTB refers to TB involving organs other than the lungs (e.g., pleura, lymph nodes, abdomen, genitourinary tract, skin, joints and bones, or meninges). A patient with both pulmonary and EPTB is classified as a case of PTB.|HPO|N|
C0679381|A non-neoplastic or neoplastic disorder which occurs during infancy, childhood, or adolescence.|NCI|N|
C0679403|Narrowing of the lumen of an artery or vein.|NCI|N|
C0679407|A finding of any disturbance, impairment, or abnormality of function of the gastrointestinal system.|NCI|N|
C0679441|loss of or impaired ability to smell; may be caused by olfactory nerve diseases, paranasal sinus diseases, viral respiratory tract infections, craniocerebral trauma, smoking, and other conditions.|CSP|N|
C0679838|An incorrect diagnosis or classification of an illness or other problem.|NCI|N|
C0680458|Repeated criminal behavior.|MSH|N|
C0681374|Student''s unsuccessful attempt at academic achievement or a marked inadequacy in the areas of scholarship or study. This is not underachievement which is performance, usually in school work, poorer than that predicted from aptitude and/or intelligence testing.|MSH|N|
C0681405|Indicates that preschool is the highest level of education achievement.|NCI|N|
C0681406|Indicates that kindergarten is the highest level of education achievement.|NCI|N|
C0682141|Assigment of spiritual faith affiliationCHAR(13)|HL7V3.0|N|
C0682187|Indicates that a person has attended college and receive a degree.|NCI|N|
C0682294|Employment involving less than the standard or customary working time.|NCI|N|
C0682295|Employed for a standard number of hours of working time, at least 50% or 20 hours per week.|NCI|N|
C0683140|A series of chemical modifications of a drug compound by enzymatic activity that make the substrate (drug) more water soluble to allow its clearance from the body. Drug metabolism occurs in two phases: Phase I (biotransformation) involves oxidation, hydroxylation reduction, and hydrolysis. Phase II (conjugation) involves synthesis and conjugation.|NCI|N|
C0683231|A mode of inheritance of diseases whose pathophysiology can be traced back to deleterious variants in a single gene. The inheritance patterns of these single-gene (monogenic) diseases are often referred to as Mendelian in honor of Gregor Mendel.|HPO|N|
C0683278|State of severe distress associated with events that threaten the intactness of the person, can be physical, mental, or emotional.|SNOMEDCT_US|N|
C0683321|A response indicating that an individual was in poor health.|NCI|N|
C0683416|A disorder characterized by persistent or recurrent episodes of feeling detached from one''s self (either one''s body or one''s mental processes), although the sufferer remains aware that this is only a feeling and does not represent reality.|NCI|N|
C0683521|A description of the physiological status of a patient.|NCI|N|
C0683559|Person declares that a domestic partner relationship exists|LNC|N|
C0683798|An indication that an individual is not working due to being laid off.|NCI|N|
C0683836|Various communications media, information centers, information services that are are utilized to obtain information.|MSH|N|
C0684219|Myokymia consists of involuntary, fine, continuous, undulating contractions that spread across the affected striated muscle.|HPO|N|
C0684249|Lung cancer is the leading cause of cancer deaths in the U.S. and worldwide. The 2 major forms of lung cancer are nonsmall cell lung cancer and small cell lung cancer (see 182280), which account for 85% and 15% of all lung cancers, respectively. Nonsmall cell lung cancer can be divided into 3 major histologic subtypes: squamous cell carcinoma, adenocarcinoma, and large cell lung cancer. Cigarette smoking causes all types of lung cancer, but it is most strongly linked with small cell lung cancer and squamous cell carcinoma. Adenocarcinoma is the most common type in patients who have never smoked. Nonsmall cell lung cancer is often diagnosed at an advanced stage and has a poor prognosis (summary by Herbst et al., 2008).|OMIM|N|
C0684262|Mass of alcohol per unit of BLOOD volume.|MSH|N|
C0684275|Hemophilia is a bleeding disorder that slows the blood clotting process. People with this condition experience prolonged bleeding or oozing following an injury, surgery, or having a tooth pulled. In severe cases of hemophilia, continuous bleeding occurs after minor trauma or even when there is no obvious injury (sometimes called spontaneous bleeding). Serious complications can result from bleeding into the joints, muscles, brain, or other internal organs. Milder forms of hemophilia do not necessarily involve spontaneous bleeding, and the condition may not become apparent until abnormal bleeding occurs following surgery or a serious injury.\n\nThe major types of this condition are hemophilia A (also known as classic hemophilia or factor VIII deficiency) and hemophilia B (also known as Christmas disease or factor IX deficiency). Although the two types have very similar signs and symptoms, they are caused by variants (also known as mutations) in different genes.  People with an unusual form of hemophilia B, known as hemophilia B Leyden, experience episodes of excessive bleeding in childhood but have few bleeding problems after puberty.|MedlinePlus Genetics|N|
C0684276|Hypsarrhythmia is abnormal interictal high amplitude waves and a background of irregular spikes. There is continuous (during wakefulness), high-amplitude (>200 Hz), generalized polymorphic slowing with no organized background and multifocal spikes demonstrated by electroencephalography (EEG).|HPO|N|
C0684320|Return to a former state; a subsidence of the symptoms of a disease process; in cancer, a decrease in the size of a tumor or in the extent of cancer in the body.|NCI|N|
C0684324|Phosphoglycerate kinase deficiency is a genetic disorder that affects the body's ability to break down the simple sugar glucose, which is the primary energy source for most cells. Researchers have described two major forms of the condition. The most common form is sometimes called the hemolytic form. It is characterized by a condition known as chronic hemolytic anemia, in which red blood cells are broken down (undergo hemolysis) prematurely. Chronic hemolytic anemia can lead to unusually pale skin (pallor), yellowing of the eyes and skin (jaundice), fatigue, shortness of breath, and a rapid heart rate. Some people with the hemolytic form also have symptoms related to abnormal brain function, including intellectual disability, seizures, and stroke.\n\nMost people with phosphoglycerate kinase deficiency have either the hemolytic form or the myopathic form. However, other combinations of signs and symptoms (such as muscle weakness with neurologic symptoms) have also been reported.\n\nThe other form of phosphoglycerate kinase deficiency is often called the myopathic form. It primarily affects muscles, causing progressive weakness, pain, and cramping, particularly with exercise. During exercise, muscle tissue can be broken down, releasing a protein called myoglobin. This protein is processed by the kidneys and released in the urine (myoglobinuria). If untreated, myoglobinuria can lead to kidney failure.|MedlinePlus Genetics|N|
C0684337|A primitive neuroectodermal neoplasm that occurs extracranially in soft tissue and bone.|HPO|N|
C0684343|The term pseudophakia refers to having an artificial lens implanted after the natural eye lens has been removed. During cataract surgery the natural cloudy lens is replaced by an pseudophakia intraocular lens (IOL).|HPO|N|
C0684345|A form of allergic contact dermatitis that results from exposure to nickel|MONDO|N|
C0684354|An epithelial neoplasm that arises from the sweat gland and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C0684358|An epithelial neoplasm that arises from the sebaceous gland and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C0684516|A mesenchymal neoplasm that arises from bone or articular cartilage and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C0684517|A neoplasm that arises from the bones and structures of skull and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C0684550|The spread of a malignant neoplasm to the spine. This may be from a primary spinal malignant neoplasm, or from a malignant neoplasm at a distant site.|NCI|N|
C0684572|A malignant neoplasm that has spread to the sternum from another anatomic site.|NCI|N|
C0684596|A cancer that involves the upper limb long bone.|MONDO|N|
C0684686|A malignant neoplasm that has spread to the soft tissues from another anatomic site.|NCI|N|
C0684743|A malignant neoplasm affecting the skeletal or smooth muscles. Malignant neoplasms arising from the skeletal muscles are called rhabdomyosarcomas. Malignant neoplasms arising from the smooth muscles are called leiomyosarcomas.|NCI|N|
C0684815|A neoplasm that arises from the neck region and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C0684817|A malignant neoplasm that has spread to the neck region from a malignancy in a local or distant anatomic site.|NCI|N|
C0684828|A neoplasm that arises from the axilla and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C0684830|A malignant neoplasm that has spread to the structures of the axilla from another anatomic site.|NCI|N|
C0684831|A neoplasm that arises from the chest wall and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C0684833|A malignant neoplasm that has spread to the structures of the chest wall from another primary anatomic site.|NCI|N|
C0684963|A malignant neoplasm that has spread to the pharynx from another anatomic site.|NCI|N|
C0684964|A malignant neoplasm that has spread to the hypopharynx from another anatomic site.|NCI|N|
C0684968|A neoplasm that arises from the pyriform sinus and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C0684984|A malignant neoplasm that has spread to the larynx from another anatomic site.|NCI|N|
C0685016|A malignant neoplasm that has spread to the trachea from another anatomic site.|NCI|N|
C0685024|A neoplasm that arises from the hilar region of lung and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C0685053|A carcinoma in situ involving a lung.|MONDO|N|
C0685110|A malignant neoplasm that has spread to the heart from another primary anatomic site.|NCI|N|
C0685115|A neoplasm that arises from the inner layer of pericardium and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C0685118|A neoplasm that arises from the pericardium and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C0685120|A malignant neoplasm that has spread to the pericardium from another primary anatomic site.|NCI|N|
C0685121|A benign neoplasm arising from arteries or veins.|NCI|N|
C0685125|A neoplasm that arises from the great vessels and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C0685200|A hemangioma arising from the subcutaneous soft tissues.|NCI|N|
C0685201|A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the spleen.|HPO|N|
C0685206|A head having the shape of a dome.|NCI|N|
C0685213|Failure to complete ossification (maturation and calcification) of the palatine bone.|HPO|N|
C0685228|The nasal bone is considered absent when it is not visualized on a midsagittal view of the profile. In the second trimester, a true midsagittal view of the fetal profile is obtained and magnified to fill the majority of the image space. The nasal bone appears as an echogenic linear structure below the skin edge. The optimal angle of insonation is 45 degrees to the longitudinal axis of the fetal nasal bone. If the angle of insonation is 0 or 180 degrees, the nasal bone may appear artificially absent. The presence or absence of the nasal bone may be determined at the time of the 11- to 14-week ultrasound examination and used as part of the risk assessment for aneuploidy.|HPO|N|
C0685375|Humeral agenesis/hypoplasia is a rare, non-syndromic limb reduction defect characterized by the unilateral or bilateral presence of a short arm with completely absent or underdeveloped humerus, frequently associated with ulnar and/or radial malformations. Patients may present with the appearance of the forearm directly attached to the shoulder, no articulation at the shoulder joint, impossible passive extension of the arm beyond the mid-axillary line, no elbow joints, bowing of the radius, a short ulna and/or ulnar/radial deviation of the hand at the wrist.|ORDO|N|
C0685381|Underdevelopment of the radius.|HPO|N|
C0685409|The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers or toes cannot be extended to 180 degrees by either active or passive extension.|HPO|N|
C0685460|The presence of an additional tarsal bone that is not one of the canonical tarsal bones (cuboid, medial, intermediate, and lateral cuneiform, navicular, talus, calcaneus).|HPO|N|
C0685628|Presence of rib formation in the lumbar region.|NCI|N|
C0685629|An extra rib at the cervicothoracic border with the distal extremity rounded, length less than one third of the length of the ossified portion of the first thoracic rib and no costal cartilage distal. (Makris S, Solomon HM, Clark R, Shiota K, Barbellion S, Buschmann J, Ema M, Fujiwara M, Grote K, Hazelden KP, Hew KW, Horimoto M, Ooshima Y, Parkinson M, Wise LD. Terminology of developmental abnormalities in common laboratory mammals (Version 2). Part B. Birth Defects Res B Dev Reprod Toxicol. 2009 Aug;86(4):227-327.)|NCI|N|
C0685638|A congenital fissure of both the thoracic and abdominal walls.|NCI|N|
C0685639|A congenital fissure of the thoracic wall.|NCI|N|
C0685661|An anomaly of the ischium, which forms the lower and back part of the hip bone.|HPO|N|
C0685678|Failure to complete ossification (maturation and calcification) of the pubic bone.|HPO|N|
C0685682|The presence of only a single nostril.|HPO|N|
C0685695|A developmental defect in the formation of pulmonary lobes.|HPO|N|
C0685699|Congenital pericardium anomaly comprises a group of rare congenital cardiac malformations characterized by the complete (Congenital complete agenesis of pericardium) or partial absence of the pericardium (Congenital partial agenesis of pericardium), or by the presence of pericardial cysts (Pleuropericardial cyst) (see these terms).|ORDO|N|
C0685707|The trabecular septum is the largest part of the interventricular septum. It extends from the membranous septum to the apex and superiorly to the infundibular septum. A defect in the trabecular septum is called muscular VSD if the defect is completely rimmed by muscle.|HPO|N|
C0685715|A rare, congenital, non-syndromic heart malformation characterized by partial or complete absence of tricuspid valve tissue and its apparatus, with an existing orifice. It can be isolated or associated with other heart anomalies. Clinical presentation is variable and may include syncope, arrhythmias, cyanosis, right heart dilatation and failure.|ORDO|N|
C0685721|Mitral valve agenesis is a rare congenital heart malformation defined as an agenesis or severe hypoplasia of both mitral valve leaflets (complete agenesis) or one of the leaflets (partial agenesis). Complete mitral valve agenesis presents in the neonatal period with symptoms of severe mitral regurgitation and is rapidly fatal unless surgically treated. It is frequently associated with other heart malformations. Partial mitral valve agenesis may present at various ages, usually with symptoms of mitral regurgitation.|ORDO|N|
C0685776|Absence of the mandible.|HPO|N|
C0685781|A congenital defect characterized by absence of the Maxilla.|HPO|N|
C0685786|Midline deficiency of the mandible and some or all overlying tissues.|HPO|N|
C0685787|A congenital malformation with a cleft (gap or opening) in the face.|HPO|N|
C0685835|An indication that the anogenital distance is greater than the norm.|NCI|N|
C0685837|46,XX gonadal dysgenesis (46,XX GD) is a primary ovarian defect leading to premature ovarian failure (POF; see this term) in otherwise normal 46,XX females as a result of failure of the gonads to develop or due to resistance to gonadotrophin stimulation.|ORDO|N|
C0685838|Perrault syndrome is characterized by sensorineural hearing loss (SNHL) in males and females and ovarian dysfunction in females. SNHL is bilateral and ranges from profound with prelingual (congenital) onset to moderate with early-childhood onset. When onset is in early childhood, hearing loss can be progressive. Ovarian dysfunction ranges from gonadal dysgenesis (absent or streak gonads) manifesting as primary amenorrhea to primary ovarian insufficiency (POI) defined as cessation of menses before age 40 years. Fertility in affected males is reported as normal (although the number of reported males is limited). Neurologic features described in some individuals with Perrault syndrome include learning difficulties and developmental delay, cerebellar ataxia, and motor and sensory peripheral neuropathy.|GeneReviews|N|
C0685840|Developmental hypoplasia of the ovary.|HPO|N|
C0685866|Rachischisis is a neural tube defect, which occurs when the neural folds do not join at the midline and the undifferentiated neuroectoderm remains exposed. Rachischisis totalis (holorachischisis) is the extreme form in which the entire spinal cord remains open.|SNOMEDCT_US|N|
C0685873|Abnormal shortness of the vertical dimensions of the eyelids.|HPO|N|
C0685889|Isolated congenital asplenia (ICAS) is a rare cause of primary immunodeficiency. Most affected individuals die of severe bacterial infections in early childhood. Isolated asplenia is distinct from asplenia associated with other complex visceral defects, notably heterotaxy syndromes such as Ivemark syndrome (208530) (summary by Mahlaoui et al., 2011).|OMIM|N|
C0685891|Underdevelopment of the thymus.|HPO|N|
C0685894|Absence of the thymus. This feature may be appreciated by the lack of a thymic shadow upon radiographic examination.|HPO|N|
C0685895|A congenital anatomic defect characterised by the presence of a proboscis-like nose located above the eyes, which are partially or completely fused.|NCI|N|
C0685897|A congenital defect characterized by the absence of most or all of the head, with the presence of a mouth-like opening on the upper thorax.|NCI|N|
C0685898|Food-induced anaphylaxis is a severe, potentially fatal, systemic allergic reaction that occurs suddenly after contact with an allergy-causing food.|HPO|N|
C0685900|Hypersensitivity in form of an adverse immune reaction against seafood.|HPO|N|
C0685901|An allergic reaction triggered by exposure to foodborne allergens found in fruit.|NCI|N|
C0685919|A white mucosal lesion in the area of the mouth where there has been tobacco contact. The lesion develops as a result of habitual chewing of tobacco or use of snuff tobacco. The lesion is premalignant.|SNOMEDCT_US|N|
C0685924|Formation of one or more fibrous bands within the temporomandibular joint (TMJ) with resulting limitation of movement of the TMJ. Adhesions may be seen in degenerative processes that involve the TMJ.|HPO|N|
C0685928|Parotitis that is caused by a bacterial agent.|NCI|N|
C0685938|A primary or metastatic malignant neoplasm involving any part of the digestive system.|NCI|N|
C0685941|A carcinoma in situ involving a intestine.|MONDO|N|
C0685943|A malignant neoplasm that has spread to the lip from another anatomic site.|NCI|N|
C0685988|A neoplasm that arises from the submandibular gland and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C0686031|A malignant neoplasm that has spread to the oropharynx from another anatomic site.|NCI|N|
C0686055|A malignant neoplasm that has spread to the esophagus from another organ or system, or from another primary esophageal tumor. The primary esophageal tumor is not in continuity with the metastatic lesion. Representative examples of metastatic cancers to the esophagus include breast and lung metastatic carcinomas and melanomas.|NCI|N|
C0686068|A malignant neoplasm that has spread to the stomach from another organ or system, or from another primary gastric tumor. The primary gastric tumor is not in continuity with the metastatic lesion. Representative examples of metastatic malignant neoplasms to the stomach include breast, lung, and esophageal metastatic carcinomas and melanomas.|NCI|N|
C0686083|Stage 0 includes: Tis, N0, M0. Tis: Carcinoma in situ. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C0686106|An epithelial or non-epithelial malignant neoplasm that has spread to the anus from another anatomic site.|NCI|N|
C0686112|A malignant neoplasm that has spread to the gallbladder from another anatomic site. Representative examples include metastatic melanoma, and metastatic carcinomas from the breast and the stomach.|NCI|N|
C0686114|A malignant neoplasm that has spread to the extrahepatic bile ducts from another anatomic site. Representative examples include metastatic melanoma and metastatic breast and gastric carcinomas.|NCI|N|
C0686167|A neoplasm that arises from the organs that comprise the urinary system and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C0686172|A carcinoma in situ involving a kidney.|MONDO|N|
C0686237|A carcinoma in situ involving a uterus.|MONDO|N|
C0686239|A neoplastic endometrial proliferation that is confined to the endometrium and does not have metastatic potential.|NCI|N|
C0686274|A neoplasm that arises from the placenta and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C0686277|Stage 0 includes: (Tis, N0, M0). Tis: Carcinoma in situ. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th ed.)|NCI|N|
C0686288|A proliferation of atypical neoplastic epithelial cells confined to the mammary ducts of the female breast.|NCI|N|
C0686328|A proliferation of atypical neoplastic epithelial cells confined to the mammary ducts of the male breast. It includes the entire spectrum of carcinoma in situ observed in the female breast. It usually develops in the retroareolar region.|NCI|N|
C0686346|A marked difference between the individual''s expressed/experienced gender and the gender others would assign to the individual, and it must continue for at least six months. (from DSM-5)|MSH|N|
C0686347|Tardive dyskinesia is a debilitating motor disorder manifest as hyperkinetic, involuntary, repetitive movements predominantly of the orofacial region. It is a complication of treatment with so-called typical antipsychotic or neuroleptic agents, such as chlorpromazine or haloperidol, and is estimated to occur in 20 to 30% of chronic schizophrenics on long-term treatment (Thelma et al., 2008).|OMIM|N|
C0686352|A subtype of Machado-Joseph disease characterized by Parkinsonian symptoms that respond particularly well to levodopa treatment.|MONDO|N|
C0686353|Limb-girdle muscular dystrophy is a term for a group of diseases that cause weakness and wasting of the muscles in the arms and legs. The muscles most affected are those closest to the body (proximal muscles), specifically the muscles of the shoulders, upper arms, pelvic area, and thighs.\n\nThe severity, age of onset, and features of limb-girdle muscle dystrophy vary among the many subtypes of this condition and may be inconsistent even within the same family. Signs and symptoms may first appear at any age and generally worsen with time, although in some cases they remain mild.\n\nIn the early stages of limb-girdle muscular dystrophy, affected individuals may have an unusual walking gait, such as waddling or walking on the balls of their feet, and may also have difficulty running. They may need to use their arms to press themselves up from a squatting position because of their weak thigh muscles. As the condition progresses, people with limb-girdle muscular dystrophy may eventually require wheelchair assistance.\n\nMuscle wasting may cause changes in posture or in the appearance of the shoulder, back, and arm. In particular, weak shoulder muscles tend to make the shoulder blades (scapulae) "stick out" from the back, a sign known as scapular winging. Affected individuals may also have an abnormally curved lower back (lordosis) or a spine that curves to the side (scoliosis). Some develop joint stiffness (contractures) that can restrict movement in their hips, knees, ankles, or elbows. Overgrowth (hypertrophy) of the calf muscles occurs in some people with limb-girdle muscular dystrophy.\n\nWeakening of the heart muscle (cardiomyopathy) occurs in some forms of limb-girdle muscular dystrophy. Some affected individuals experience mild to severe breathing problems related to the weakness of muscles needed for breathing. In some cases, the breathing problems are severe enough that affected individuals need to use a machine to help them breathe (mechanical ventilation).\n\nIntelligence is generally unaffected in limb-girdle muscular dystrophy; however, developmental delay and intellectual disability have been reported in rare forms of the disorder.|MedlinePlus Genetics|N|
C0686377|A malignant neoplasm that has spread to the central nervous system from another anatomic site or system. The majority are carcinomas (usually lung or breast carcinomas).|NCI|N|
C0686378|A neoplasm that arises from the cerebrum and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C0686400|A neoplasm that arises from the brain stem and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C0686402|A malignant neoplasm that has spread from its original site of growth to the brain stem.|NCI|N|
C0686404|A benign neoplasm that involves the cauda equina.|MONDO|N|
C0686417|A primary or metastatic malignant neoplasm involving the oculomotor nerve.|NCI|N|
C0686457|A malignant neoplasm that has spread to the conjunctiva from another anatomic site.|NCI|N|
C0686463|A malignant neoplasm that has spread to the ciliary body from another anatomic site.|NCI|N|
C0686467|A neoplasm that arises from the uvea and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C0686477|A malignant neoplasm that has spread to the retina from another anatomic site.|NCI|N|
C0686483|A malignant neoplasm that has spread from its original site of growth to the lacrimal gland.|NCI|N|
C0686507|A malignant neoplasm either directly extending to the parathyroid glands from adjacent anatomic structures, or spreading to the parathyroid glands from distant anatomic sites, most frequently breast, lung, kidney, soft tissues, and skin.|NCI|N|
C0686512|A neoplasm that arises from the adrenal medulla and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C0686546|Burkitt lymphoma that involves the spleen.|NCI|N|
C0686584|A finding of leukemia that is not growing and responds to treatment|NCI|N|
C0686586|A finding of acute leukemia that is not growing and responds to treatment.|NCI|N|
C0686589|A finding of chronic leukemia that is not growing and responds to treatment.|NCI|N|
C0686593|A finding of myeloid leukemia that is not growing and responds to treatment.|NCI|N|
C0686597|A finding of lymphoid leukemia that is not growing and responds to treatment.|NCI|N|
C0686601|A finding of erythroleukemia that is not growing and responds to treatment.|NCI|N|
C0686615|A neoplasm that arises from the spleen and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C0686617|A malignant neoplasm that has spread to the thymus from another anatomic site.|NCI|N|
C0686619|The spread of a malignant neoplasm from its original site of growth to lymph nodes.|NCI|N|
C0686637|The spread of a malignant neoplasm from its original site of growth to supraclavicular lymph nodes.|NCI|N|
C0686651|The spread of a malignant neoplasm to the mediastinal lymph nodes from an adjacent or distant anatomic site.|NCI|N|
C0686762|A finding of a fusion of two approximately spherical primary ossification centers at or near the mid-line through an ossified bony bridge, as indicated by staining.|NCI|N|
C0686763|A finding of two unfused primary ossification centers, as indicated by staining, usually resulting in two separate and distinct bones.|NCI|N|
C0686777|Break in the continuity of feeding milk from the breasts, which may compromise breastfeeding success and/or nutritional status of the infant/child.|NANDA-I|N|
C0686997|Connectedness with self, others, higher power, all life, nature, and the universe that transcends and empowers the self|NOC|N|
C0687120|The nephronophthisis (NPH) phenotype is characterized by reduced renal concentrating ability, chronic tubulointerstitial nephritis, cystic renal disease, and progression to end-stage renal disease (ESRD) before age 30 years. Three age-based clinical subtypes are recognized: infantile, juvenile, and adolescent/adult. Infantile NPH can present in utero with oligohydramnios sequence (limb contractures, pulmonary hypoplasia, and facial dysmorphisms) or postnatally with renal manifestations that progress to ESRD before age 3 years. Juvenile NPH, the most prevalent subtype, typically presents with polydipsia and polyuria, growth retardation, chronic iron-resistant anemia, or other findings related to chronic kidney disease (CKD). Hypertension is typically absent due to salt wasting. ESRD develops at a median age of 13 years. Ultrasound findings are increased echogenicity, reduced corticomedullary differentiation, and renal cysts (in 50% of affected individuals). Histologic findings include tubulointerstitial fibrosis, thickened and disrupted tubular basement membrane, sporadic corticomedullary cysts, and normal or reduced kidney size. Adolescent/adult NPH is clinically similar to juvenile NPH, but ESRD develops at a median age of 19 years. Within a subtype, inter- and intrafamilial variability in rate of progression to ESRD is considerable. Approximately 80%-90% of individuals with the NPH phenotype have no extrarenal features (i.e., they have isolated NPH); ~10%-20% have extrarenal manifestations that constitute a recognizable syndrome (e.g., Joubert syndrome, Bardet-Biedl syndrome, Jeune syndrome and related skeletal disorders, Meckel-Gruber syndrome, Senior-Løken syndrome, Leber congenital amaurosis, COACH syndrome, and oculomotor apraxia, Cogan type).|GeneReviews|N|
C0687133|Alteration of the disposition and/or effect of a drug, owing to the presence of another factor such as a second drug, or food.|NCI|N|
C0687140|A hemangioma arising from the skin.|NCI|N|
C0687150|The spectrum of CDC73-related disorders includes the following phenotypes: Hyperparathyroidism-jaw tumor (HPT-JT) syndrome. Primary hyperparathyroidism, the main finding of HPT-JT syndrome, occurs in up to 95% of affected individuals; onset is typically in late adolescence or early adulthood. HPT-JT-associated primary hyperparathyroidism is usually caused by a single parathyroid adenoma. In approximately 10%-15% of individuals, primary hyperparathyroidism is caused by parathyroid carcinoma. Ossifying fibromas of the mandible or maxilla, also known as cementifying fibromas and cemento-ossifying fibromas, occur in 30%-40% of individuals with HPT-JT syndrome. Although benign, these tumors can be locally aggressive and may continue to enlarge if not treated. Approximately 20% of individuals with HPT-JT syndrome have kidney lesions, most commonly cysts; renal hamartomas and (more rarely) Wilms tumor have also been reported. Benign and malignant uterine tumors appear to be common in women with HPT-JT syndrome. Parathyroid carcinoma. Most parathyroid carcinomas are functional, resulting in hyperparathyroidism and a high serum calcium level; however, nonfunctioning parathyroid carcinomas are also rarely described in individuals with a CDC73-related disorder. A germline CDC73 pathogenic variant has been identified in 20%-29% of individuals with apparently sporadic parathyroid carcinoma. Familial isolated hyperparathyroidism (FIHP). FIHP is characterized by primary hyperparathyroidism without other associated syndromic features. Individuals with CDC73-related FIHP tend to have a more severe clinical presentation and younger age of onset than individuals with FIHP in whom a CDC73 pathogenic variant has not been identified.|GeneReviews|N|
C0687154|A common presentation of craniosynostosis and polysyndactyly.|MONDO|N|
C0687695|Negligible functional limitations|LNC|N|
C0687707|disturbance of structure, function, or both of the anus and/or rectum.|CSP|N|
C0687713|Painful sensation in the gastrointestinal region.|NCI|N|
C0687720|Neurohypophyseal diabetes insipidus is a disorder of water balance. The body normally balances fluid intake with the excretion of fluid in urine. However, people with neurohypophyseal diabetes insipidus produce too much urine (polyuria), which causes them to be excessively thirsty (polydipsia). Affected people need to urinate frequently, which can disrupt daily activities and sleep.\n\nPeople with neurohypophyseal diabetes insipidus can quickly become dehydrated if they do not drink enough water. Dehydration can lead to constipation and dry skin. If the disorder is not treated, more serious complications of dehydration can occur. These include confusion, low blood pressure, seizures, and coma.\n\nNeurohypophyseal diabetes insipidus can be either acquired or familial. The acquired form is brought on by injuries, tumors, and other factors, and can occur at any time during life. The familial form is caused by genetic mutations; its signs and symptoms usually become apparent in childhood and worsen over time.\n\nNeurohypophyseal diabetes insipidus should not be confused with diabetes mellitus, which is much more common. Diabetes mellitus is characterized by high blood sugar (glucose) levels resulting from a shortage of the hormone insulin or an insensitivity to this hormone. Although neurohypophyseal diabetes insipidus and diabetes mellitus have some features in common, they are separate disorders with different causes.|MedlinePlus Genetics|N|
C0687751|Acanthocytosis is a type of poikilocytosis characterized by the presence of spikes on the cell surface. The cells have an irregular shape resembling many-pointed stars.|HPO|N|
C0694457|Any disease or disorder that disrupts the process development of an anatomical structure. Can be due to genetic or environmental causes. Typically happens during embryogenesis, but also includes post-embryonic development.|MONDO|N|
C0694536|Activities performed to obtain licit or illicit substances.|MSH|N|
C0694539|A disorder characterized by a long standing and persistent uncoordinated atrial myocardium activation due to multiple reentry circuits with consequent deterioration of atrial mechanical function. Instead of intermittently contracting, the atria quiver continuously in a chaotic pattern, causing a totally irregular, often tachycardia ventricular rate. On the ECG it is characterized by the replacement of consistent P waves by rapid oscillations or fibrillatory waves that vary in size, shape, and timing, associated with an irregular, frequently rapid ventricular response when atrioventricular conduction is intact.|NCI|N|
C0694541|Abnormal enlargement of the heart resulting from long-standing hypertension.|NCI|N|
C0694547|A heart murmur that occurs predominantly in midsystole, when ejection volume and velocity of blood flow are at their maximum; it is produced by ejection of blood into the pulmonary artery and aorta. It is typically crescendo-decrescendo.|NCI|N|
C0694548|An asthma that is characterized by chronic nonproductive cough without shortness of breath.|MONDO|N|
C0694549|Pneumonia that is not acquired in a hospital or long-term care facility setting.|NCI|N|
C0694550|An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia.|HPO|N|
C0694571|A non-Hodgkin or Hodgkin lymphoma that arises from an anatomic site other than a lymph node.|NCI|N|
C0695242|Loss or absence of normal intestinal function due to nerve damage or birth defects. It is characterized by the inability to control the elimination of stool from the body.|MONDO|N|
C0699739|group of peripheral nervous system hereditary disorders with varying course, symptoms, neuropathology, and genetics, but characterized by degeneration of peripheral nerves, and clinically by loss of sensation.|CSP|N|
C0699743|Congenital muscular dystrophy (CMD) is a heterogeneous group of neuromuscular disorders with onset at birth or infancy characterized by hypotonia, muscle wasting, weakness or delayed motor milestones. The group includes myopathies with abnormalities at different cellular levels: the extracellular matrix (MDC1A, UCMD; see these terms), the dystrophin-associated glycoprotein complex (alphadystroglycanopathies, integrinopathies see these terms), the endoplasmic reticulum (rigid spine syndrome [RSMD1], and the nuclear envelope (LMNA-related CMD; [L-CMD] and Nesprin-1-related CMD; see these terms).|ORDO|N|
C0699744|A viral or bacterial infection that affects the external, middle, or inner ear. It may follow an upper respiratory infection. Signs and symptoms include pain, ear discharge, ear fullness, hearing loss, vertigo, nausea, and vomiting.|NCI|N|
C0699748|The pathologic, physiologic, or biochemical mechanism resulting in the development of a disease or morbid process.|NCI|N|
C0699790|Lynch syndrome is characterized by an increased risk for colorectal cancer (CRC) and cancers of the endometrium, ovary, stomach, small bowel, urinary tract, biliary tract, brain (usually glioblastoma), skin (sebaceous adenomas, sebaceous carcinomas, and keratoacanthomas), pancreas, and prostate. Cancer risks and age of onset vary depending on the associated gene. Several other cancer types have been reported to occur in individuals with Lynch syndrome (e.g., breast, sarcomas, adrenocortical carcinoma). However, the data are not sufficient to demonstrate that the risk of developing these cancers is increased in individuals with Lynch syndrome.|GeneReviews|N|
C0699791|A malignant epithelial tumor of the stomach mucosa. The vast majority of gastric carcinomas are adenocarcinomas, arising from the gastric glandular epithelium.|NCI|N|
C0699828|Serotoninergic syndrome is characterized by an excess of serotonin in the central nervous system, associated with the use of various agents, including selective serotonin reuptake inhibitors (SSRIs).|MONDO|N|
C0699885|Bladder cancer is a disease in which certain cells in the bladder become abnormal and multiply uncontrollably to form a tumor. The bladder is a muscular organ in the lower abdomen that stores urine until it can be removed (excreted) from the body.\n\nBladder cancer may cause blood in the urine, pain during urination, frequent urination, the feeling of needing to urinate without being able to, or lower back pain. Many of these signs and symptoms are nonspecific, which means they may occur in multiple disorders. People who have one or more of these nonspecific health problems often do not have bladder cancer, but have another condition such as an infection.\n\nBladder cancer develops when tumors form in the tissue that lines the bladder. There are several types of bladder cancer, categorized by the type of cell in the tissue that becomes cancerous. The most common type is transitional cell carcinoma (also known as urothelial carcinoma); others include squamous cell carcinoma and adenocarcinoma. If the tumor spreads  (metastasizes) beyond the lining of the bladder into nearby tissues or organs, it is known as invasive bladder cancer. |MedlinePlus Genetics|N|
C0699889|A primary or metastatic malignant neoplasm involving the female reproductive system. Representative examples include endometrial carcinoma, cervical carcinoma, ovarian carcinoma, uterine corpus leiomyosarcoma, adenosarcoma, malignant mixed mesodermal (mullerian) tumor, and gestational choriocarcinoma.|NCI|N|
C0699893|A carcinoma that arises from the skin. Representative examples are basal cell carcinoma and squamous cell carcinoma.|NCI|N|
C0700075|An inability to be still and/or the need to move.|NCI|N|
C0700078|Reduction of neurologic reflexes such as the knee-jerk reaction.|HPO|N|
C0700101|A carcinoma that arises from the urethra. Morphologically, the tumors are similar to those described in the bladder.|NCI|N|
C0700102|A history of a first-degree family member with kidney cancer.|NCI|N|
C0700110|A carcinoma that has spread to the bone from another, primary anatomic site. Bone is one of the most frequent sites of metastatic carcinoma. Common sites of origin include lung, breast, and prostate.|NCI|N|
C0700124|The condition of being dilated or stretched.|NCI|N|
C0700141|A disease involving the vitreous humor.|MONDO|N|
C0700153|An involuntary and painless delay in the relaxation of skeletal muscle following contraction or electrical stimulation.|HPO|N|
C0700200|Presyncope is a state of lightheadedness, muscular weakness, blurred vision, and feeling faint. Presyncope is most often cardiovascular in cause.|HPO|N|
C0700201|A broad category of sleep disorders characterized by either hypersomnolence or insomnia. The three major subcategories include intrinsic (i.e., arising from within the body) (SLEEP DISORDERS, INTRINSIC), extrinsic (secondary to environmental conditions or various pathologic conditions), and disturbances of circadian rhythm. (From Thorpy, Sleep Disorders Medicine, 1994, p187)|MSH|N|
C0700225|An increased amount of creatinine in the blood.|HPO|N|
C0700251|A brachial plexus disorder characterized by regional paresthesia, pain and muscle weakness, and limited movement in the arm or hand.|NCI|N|
C0700292|An abnormally low level of blood oxygen.|HPO|N|
C0700299|This is a form of nonspherocytic hemolytic anemia of Dacie type I (in vitro autohemolysis is not corrected by added glucose). After splenectomy, which has little benefit, basophilic inclusions called Heinz bodies are demonstrable in the erythrocytes. Before splenectomy, diffuse or punctate basophilia may be evident. Most of these cases are probably instances of hemoglobinopathy. The hemoglobin demonstrates heat lability.
Heinz bodies are observed also with the Ivemark syndrome (asplenia with cardiovascular anomalies; 208530).|OMIM|N|
C0700329|A light microscopic finding that describes the cellular characteristics and architectural patterns of cell populations in a tissue sample.|NCI|N|
C0700345|Infection of the vulva and vagina with a fungus of the genus CANDIDA. It is a disease associated with HIV infection.|NCI|N|
C0700360|Hypersensitivity in form of an adverse immune reaction against animal dander.|HPO|N|
C0700361|Disturbed mental state characterized by moodiness, irritability, agitation, anxiety, and/or depression resulting from physical or mental stress.|NCI|N|
C0700363|An electrocardiographic finding of three or more consecutive complexes of ventricular origin with a rate less than a certain threshold (100 or 120 beats per minute are commonly used). The QRS complexes are wide and have an abnormal morphology. (CDISC)|NCI|N|
C0700367|A highly malignant embryonal tumor of infancy and young childhood characterized by neuroectodermal elements organized in distinctive multilayered rosettes. Ependymoblastomas are large lesions that occur in the supratentorial compartment, typically displaying a physical connection to the ventricular system.|HPO|N|
C0700376|Extracellular deposition in lung tissue of a proteinaceous material that, when stained with Congo red, demonstrates apple-green birefringence under polarized light and that has a distinct color when stained with sulfated Alcian blue. Viewed with electron microscopy, the amyloid deposits are seen to be composed of a beta-sheet fibrillar material. These nonbranching fibrils have a diameter of 7.5 to 10 nm and are the result of protein misfolding.|HPO|N|
C0700430|An ICD encounter due to failed examinations.|NCI|N|
C0700501|Nystagmus dating from or present at birth.|HPO|N|
C0700502|Hypothyroidism, the cause of which is not present at birth.|NCI|N|
C0700572|Mobility is decreased, reduced or has declined for a variety of factors.|SNOMEDCT_US|N|
C0700588|An instance of hypertrophic pyloric stenosis that is acquired during the lifetime of the individual.|MONDO|N|
C0700590|Profuse sweating.|NCI|N|
C0700594|Disease involving a spinal nerve root (see spinal nerve roots) which may result from compression related to intervertebral disk displacement; spinal cord injuries; spinal diseases; and other conditions. Clinical manifestations include radicular pain, weakness, and sensory loss referable to structures innervated by the involved nerve root.|MONDO|N|
C0700595|A group of congenital neurodegenerative disorders affecting motor neurons, resulting in muscle weakness and atrophy in childhood. Signs and symptoms include hypotonia, difficulty breathing, poor feeding, and flaccid quadriplegia.|NCI|N|
C0700623|An instance of hyperlipidemia (disease) that is caused by an inherited modification of the individual's genome.|MONDO|N|
C0700635|The Strudwick type of spondyloepimetaphyseal dysplasia (SEMD) is characterized by disproportionate short stature, pectus carinatum, and scoliosis, as well as dappled metaphyses (summary by Tiller et al., 1995).|OMIM|N|
C0700636|A non-neoplastic, regenerating hepatocellular hyperplasia, secondary to the presence of focal vascular abnormalities in the liver.|NCI|N|
C0700639|Pyloric stenosis, also known as infantile hypertrophic pyloric stenosis, is an uncommon condition in infants characterized by abnormal thickening of the pylorus muscles in the stomach leading to gastric outlet obstruction. Clinically infants are well at birth. Then, at 3 to 6 weeks of age, the infants present with projectile vomiting, potentially leading to dehydration and weight loss.|HPO|N|
C0701807|Sudden onset of anterior uveitis, usually unilateral, and associated with pain, erythema, photophobia, and blurred vision. Often associated with HLA-B27, with or without co-existing spondyloarthritis.|NCI|N|
C0701810|A deficit in the ability to retrieve information from long-term memory, which can be defined as a seemingly unlimited capacity to store memories can last years and relate to the performance of actions or skills (i.e., procedural memories, knowing how) and memories of facts, rules, concepts, and events (i.e., declarative memories, knowing that).|HPO|N|
C0701811|A deficit in the retention of pieces of information (memory chunks) for a relatively short time (usually up to 30 seconds).|HPO|N|
C0701818|Presence or formation of gallstones in the common bile duct.|MONDO|N|
C0701826|Fetal or infant death during the period of time that includes the antepartum, intrapartum, and neonatal stages.|NCI|N|
C0702108|A type of cataract characterized by club-shaped and dot opacities distributed radially in the deep cortex. These lens opacities surround the nucleus in an appearance that is though to resemble a crown.|HPO|N|
C0702120|A morphologic finding referring to the presence of intercellular edema in the epidermal keratinocytes or to the vacuolization of the central nervous system white matter.|NCI|N|
C0702139|Complete absence of any auricular structures.|HPO|N|
C0702159|familial or idiopathic form, usually fatal; Fanconi''s anemia presents before age 10, marked by microcephaly, skin discolorations, and sexual and mental retardation.|CSP|N|
C0702166|A skin condition in which there is an increase in sebum secretion by the pilosebaceous apparatus associated with open comedones (blackheads), closed comedones (whiteheads), and pustular nodules (papules, pustules, and cysts).|HPO|N|
C0702167|The most dramatic and severe form of hair loss characterized by an absence of hair follicles.|HPO|N|
C0702169|Partial or complete absence of the flat bones of the cranial vault. The condition is frequently, though not always, associated with anencephaly.|HPO|N|
C0728829|An increase in height of the medial longitudinal arch of the foot that does not flatten on weight bearing (i.e., a distinctly hollow form of the sole of the foot when it is bearing weight).|HPO|N|
C0728864|A malignant neoplasm affecting the nasal cavity. Representative examples include carcinoma and lymphoma.|NCI|N|
C0728899|Diminished control of mental or physical functioning caused by a substance.|SNOMEDCT_US|N|
C0728951|A malignant epithelial neoplasm arising from the appendix. The vast majority of the cases are adenocarcinomas.|NCI|N|
C0729198|An abnormally decreased concentration of parathyroid hormone.|HPO|N|
C0729233|Dissection or a tear of the THORACIC AORTA. It includes aortic root dissection, ascending aortic dissection, aortic arch dissection and descending thoracic aortic dissection.|MSH|N|
C0729248|An ICD encounter due to inadequate housing, including lack of heating, restriction of space, technical defects in home preventing adequate care, unsatisfactory surroundings, excluding problems related to physical environment (Z58.-).|NCI|N|
C0729264|Preterm premature rupture of the membranes (PPROM) is defined as rupture of membranes before 37 weeks of gestation, which occurs in approximately 3% of all pregnancies and accounts for about one-third of spontaneous preterm births (ACOG Practice Bulletin, 1998). Srinivas and Macones (2005) reviewed the pathophysiology of PPROM and noted that familial clustering and ethnic differences in the incidence of PPROM suggest possible genetic influences.|OMIM|N|
C0729346|Defective bone growth that affects the growth centers of bone in children.|NCI|N|
C0729524|A bacterial infectious process affecting any part of the urinary tract, most commonly the bladder and the urethra. Symptoms include urinary urgency and frequency, burning sensation during urination, lower abdominal discomfort, and cloudy urine.|MONDO|N|
C0729544|MYCOSES of the brain, spinal cord, and meninges which may result in ENCEPHALITIS; MENINGITIS, FUNGAL; MYELITIS; BRAIN ABSCESS; and EPIDURAL ABSCESS. Certain types of fungi may produce disease in immunologically normal hosts, while others are classified as opportunistic pathogens, causing illness primarily in immunocompromised individuals (e.g., ACQUIRED IMMUNODEFICIENCY SYNDROME).|MSH|N|
C0729554|An acute or chronic infectious process affecting the mediastinum.|NCI|N|
C0729555|A viral, bacterial, fungal, or parasitic infectious process that affects the digestive system.|NCI|N|
C0729582|Floating-Harbor syndrome (FHS) is characterized by typical craniofacial features; low birth weight, normal head circumference, and short stature; bone age delay that normalizes between ages six and 12 years; skeletal anomalies (brachydactyly, clubbing, clinodactyly, short thumbs, prominent joints, clavicular abnormalities); severe receptive and expressive language impairment; hypernasality and high-pitched voice; and intellectual disability that is typically mild to moderate. Difficulties with temperament and behavior that are present in many children tend to improve in adulthood. Other features can include hyperopia and/or strabismus, conductive hearing loss, seizures, gastroesophageal reflux, renal anomalies (e.g., hydronephrosis / renal pelviectasis, cysts, and/or agenesis), and genital anomalies (e.g., hypospadias and/or undescended testes).|GeneReviews|N|
C0729584|Inflammation of the meninges of the brain and/or spinal cord caused by an infectious agent (viral, bacterial, or fungal). Symptoms include headache, fever, vomiting, neck stiffness, photophobia, confusion, and seizures.|NCI|N|
C0729734|A disease that involves the tendon sheath.|MONDO|N|
C0729777|A viral or bacterial infectious process affecting the cornea. Symptoms include pain and redness in the eye, photophobia and eye watering.|NCI|N|
C0729842|A rare non-infectious posterior uveitis characterized by usually bilateral, chronic, progressive, recurrent inflammation of the choroid, retinal pigment epithelium, and choriocapillaris. In the classic or peripapillary geographic type of the disease, infiltrates originating in the peripapillary region progress in an irregular serpentine fashion centrifugally and resolve spontaneously after several weeks, leaving atrophic scars. Multiple recurrences, often with months to years of quiescence in between, result in progressive visual loss in one or both eyes.|ORDO|N|
C0730199|A neoplasm that arises from the glandular epithelium of the rectal mucosa. It is characterized by a villous architectural pattern. The neoplastic glandular cells have dysplastic features.|NCI|N|
C0730271|A rare, genetic macular disorder characterised by severe near-sightedness resulting from continual elongation of the eyeball. As the eyeball stretches the sclera and retina thin and the macula can tear, causing bleeding beneath the retina. It is a major cause of irreversible vision loss.|ORDO|N|
C0730274|The following must be present on at least one OCT (Optical coherence tomography) scan image: (i) Partial vitreous detachment as indicated by elevation of cortical vitreous above the retinal surface in the perifoveal area (ii) Persistent vitreous attachment.|SNOMEDCT_US|N|
C0730276|Microaneurysms only|LNC|N|
C0730290|A rare retinal dystrophy characterized by photophobia, progressive loss of visual acuity, nystagmus, visual field abnormalities, abnormal color vision, and psychophysical and electrophysiological evidence of abnormal cone function. Progressive cone dystrophy usually presents in childhood or early adult life, and patients tend to develop rod photoreceptor dysfunction in later life.|ORDO|N|
C0730292|Macular dystrophy is a nonspecific term for premature retinal cell aging and cell death, generally confied to the macula in which no clear extrinsic cause is evident.|HPO|N|
C0730294|North Carolina macular dystrophy (NCMD, MCDR1) is a congenital autosomal dominant trait that appears to be completely penetrant. It is generally nonprogressive. The ophthalmoscopic findings are highly variable and are always much more dramatic than one would predict from the relatively good visual acuity level, which ranges from 20/20 to 20/400 (median, 20/60). Patients may have only a few drusen in the central macular region (grade I), confluent drusen confined to the central macular region (grade II), or a severe macular coloboma/staphyloma (grade III) involving 3 to 4 disc areas of the central macular region. Choroidal neovascular membranes develop in some patients. Color vision is normal. Electrophysiologic studies are also normal (summary by Small, 1998).
Genetic Heterogeneity of Retinal Macular Dystrophy
MCDR2 (608051) is caused by mutation in the PROM1 gene (604365) on chromosome 4p15. MCDR3 (608850) is caused by a duplication on chromosome 5p15. MCDR4 (619977) is caused by mutation in the CLEC3B gene (187520) on chromosome 3p21. MCDR5 (see 613660) is caused by mutation in the CDHR1 gene (609502) on chromosome 10q23.
See MAPPING for possible additional loci for MCDR.|OMIM|N|
C0730295|Drusen are extracellular deposits that accumulate below the retinal pigment epithelium on Bruch membrane. They appear as slightly raised, yellow subretinal nodules randomly scattered in the macula. 'Drusen' is the plural for 'Druse,' German for 'nodule' or 'crystal' (summary by Bok, 2002, Boon et al., 2008).|OMIM|N|
C0730298|Acute zonal occult outer retinopathy (AZOOR) is typified by acute loss of 1 or more zones of outer retinal function associated with photopsia, minimal funduscopic changes, and abnormal ERG findings|SNOMEDCT_US|N|
C0730303|A benign vascular tumor of the retina without any neoplastic characteristics.|HPO|N|
C0730304|A benign tumor of the retina that appears as a grouping of blood-filled saccules within the inner retinal layers or on the surface of the optic disc. Retinal cavernous angioma are described as having a 'cluster of grapes' appearance.|HPO|N|
C0730306|A lymphoma that arises from the eye.|NCI|N|
C0730307|Cancer associated retinopathy (CAR) is a paraneoplastic disease of the eye associated with the presence of extraocular malignancy and circulating autoantibodies against retinal proteins.|ORPHANET|N|
C0730308|Melanoma-associated retinopathy (MAR) is a rare autoimmune condition that occurs in some people with melanoma (a type of skin cancer) and can affect the vision.|MONDO|N|
C0730321|A rare ophthalmic disorder characterized by typically bilateral, asymmetric, yellowish, punctate chorioretinal lesions of the posterior pole forming a linear branching pattern and progressing to atrophic scars. Subretinal neovascular membranes occur in many cases. Vitritis is always absent. Patients may present with blurred vision, scotoma, floaters, photopsia, and metamorphopsia. Choroidal neovascular membrane formation and subretinal fibrosis are the major causes of visual loss. The condition predominantly occurs in young myopic females.|MONDO|N|
C0730328|An anomaly of the retina with serous detachment of the neurosensory retina secondary to one or more focal lesions of the retinal pigment epithelium (RPE), and associated with blurred vision, usually in one eye only and perceived typically by the patient as a dark spot in the center of the visual field with associated micropsia and metamorphopsia. Normal vision often recurs spontaneously within a few months.|HPO|N|
C0730379|A complete or near-complete lack of amniotic fluid surrounding a fetus. This finding can be observed sonographically in the third trimesters if the deepest pocket of amniotic fluid is less than or equal to 2 cm.|HPO|N|
C0730501|An intermittent esotropia where there is binocular single vision on distance fixation and esotropia at near even when the accommodation is relieved.|HPO|N|
C0730502|An intermittent esotropia where binocular single vision is present on near fixation and an esotropia on distance fixation. Often associated with myopia and aging.|HPO|N|
C0730503|Convergent strabismus in which normal binocular single vision is alternating with large angle esotropia in rhythmic cycle.|HPO|N|
C0730504|The false appearance of misalignment of the eyes.|NCI|N|
C0730505|A type of divergent strabismus (exotropia) in which an eye tends to turn outwards (i.e., the eye squints) mainly when looking at distant objects. The eyes tend to remain straight when they look at near objects. Distance exotropia may be constant or intermittent.|HPO|N|
C0730506|An intermittent exotropia where there is binocular single vision on distance fixation and exotropia at near (intermittent or constant).|HPO|N|
C0730557|Nonphysical abuse as defined as a pattern of behavior in which one person deliberately and repeatedly subjects another to nonphysical acts that are detrimental to behavioral and affective functioning and overall mental well-being. (APA Dictionary of Psychology, accessed 4/21/2020).|MSH|N|
C0733682|The phenotypic spectrum of X-linked hypophosphatemia (XLH) ranges from isolated hypophosphatemia to severe lower-extremity bowing. XLH frequently manifests in the first two years of life when lower-extremity bowing becomes evident with the onset of weight bearing; however, it sometimes is not manifest until adulthood, as previously unevaluated short stature. In adults, enthesopathy (calcification of the tendons, ligaments, and joint capsules) associated with joint pain and impaired mobility may be the initial presenting complaint. Persons with XLH are prone to spontaneous dental abscesses; sensorineural hearing loss has also been reported.|GeneReviews|N|
C0740083|A carcinoma of the larynx that arises from the glottic area.|NCI|N|
C0740253|An empyema with a fistula.|NCI|N|
C0740277|A carcinoma arising from the intrahepatic or extrahepatic bile ducts.|NCI|N|
C0740279|Cerebellar atrophy is defined as a cerebellum with initially normal structures, in a posterior fossa with normal size, which displays enlarged fissures (interfolial spaces) in comparison to the foliae secondary to loss of tissue. Cerebellar atrophy implies irreversible loss of tissue and result from an ongoing progressive disease until a final stage is reached or a single injury, e.g. an intoxication or infectious event.|HPO|N|
C0740302|The 5q- syndrome is a myelodysplastic syndrome characterized by a defect in erythroid differentiation. Patients have severe macrocytic anemia, normal or elevated platelet counts, normal or reduced neutrophil counts, erythroid hypoplasia in the bone marrow, and hypolobated micromegakaryocytes (Ebert et al., 2008).|OMIM|N|
C0740321|Abnormal results from the diagnostic tests resulting from cardiac catheterization.|HPO|N|
C0740339|Carcinoma, predominantly squamous cell, arising from epithelial cells of the larynx or pharynx.|NCI|N|
C0740340|An autosomal dominant inherited form of amyloidosis.|NCI|N|
C0740346|An undifferentiated pleomorphic sarcoma that has spread to other anatomic sites.|NCI|N|
C0740364|A non-malignant ovarian cyst.|NCI|N|
C0740366|A fracture of the vertebra that is caused by a loss of bone mass (osteoporosis) that occurs as part of aging.|HPO|N|
C0740372|A non-Hodgkin or Hodgkin lymphoma that arises from any part of the digestive system, with the bulk of the disease localized to that site.|NCI|N|
C0740375|The trapping of bowel or omentum inside the inguinal canal that cannot be reduced, resulting in inflammation, pain, nausea, and possible bowel obstruction.|NCI|N|
C0740392|Acute onset neurological deficits such as weakness, dizziness, numbness, issues with speech, or visual changes related to sudden impairment of blood flow to a part of the brain due to occlusion or rupture of the middle cerebral artery to the brain.|HPO|N|
C0740394|An abnormally high level of uric acid in the blood.|HPO|N|
C0740402|Inflammation of the tonsils that has occurred repeatedly. The definition of recurrent may vary somewhat, but the criteria used recently as a measure of severity were five or more episodes of true tonsillitis per year, symptoms recurring for at least a year, and episodes that are disabling and that prevent normal functioning. In some cases recurrent tonsillitis may be related to immunosusceptibility. Evidence exists for a genetic predisposition for recurrent tonsillitis.|HPO|N|
C0740415|Encephalitis that is associated with systemic lupus erythematosus.|NCI|N|
C0740421|Menopause that is induced by the surgical removal of the ovaries.|NCI|N|
C0740441|Acute form of diarrhea.|MONDO|N|
C0740457|Primary or metastatic malignant neoplasm involving the kidney.|NCI|N|
C0740479|A rare, high-grade pleomorphic malignant neoplasm arising from the bone. It usually presents with pain which may or may not be associated with swelling in the affected area. It is characterized by the presence of spindle-shaped cells, polygonal or epithelioid cells, multinucleated giant cells, and inflammatory cells. The neoplastic cells exhibit nuclear pleomorphism and high mitotic activity. It metastasizes frequently, most often in the lungs.|NCI|N|
C0740480|Benign and malignant neoplasms of the cerebellum that arise from astrocytes. During childhood the majority are benign pilocytic astrocytomas. In adults both benign and relatively higher grade forms may occur. The most common presenting symptoms are headache, nausea, vomiting, ataxia of gait or limb, paresis, diplopia, and dizziness. Objective signs include weakness, long tract signs, dysmetria, gait ataxia, papilledema, and nystagmus. Surgical resection is often curative.|NCI|N|
C0740487|A carcinoma that arises from the maxillary sinus. Representative examples include squamous cell carcinoma, adenocarcinoma, and adenoid cystic carcinoma.|NCI|N|
C0740651|A subjective manifestation of disease localized to the abdomen.|HPO|N|
C0740652|An extrapulmonary tuberculosis that is located in gastrointestinal tract, located in peritoneum, located in omentum, located in mesentery, located in liver, located in spleen or located in pancreas.|MONDO|N|
C0740749|Longstanding metabolic acidosis.|HPO|N|
C0740766|Acute inflammation of the lung parenchyma caused by viruses, bacteria, fungi, radiation treatment, or exposure to chemicals. Signs and symptoms include cough, shortness of breath, fevers, chills, chest pain, headache, sweating, and weakness.|NCI|N|
C0740852|Increased resistance to the passage of air in the upper airway.|HPO|N|
C0740858|Maladaptive pattern of drug or alcohol use that may lead to social, occupational, psychological, or physical problems.|NCI|N|
C0740913|An allergic reaction triggered by exposure to allergens expressed by dogs, includes allergenic factors found in canine saliva and dander.|NCI|N|
C0741026|Angina pectoris which does not have associated classical symptoms of chest pain. Symptoms may include weakness, nausea, or sweating.|NCI|N|
C0741160|A ruptured aneurysm located in the wall of the aorta.|NCI|N|
C0741267|Asthmatic attacks requiring supplemental corticosteroids.|SNOMEDCT_US|N|
C0741302|The condition of being irregular or not conforming to type.|NCI|N|
C0741305|Inflammation of the cartilage of the external ear.|HPO|N|
C0741451|Battle sign is bruising over the mastoid process that is typically the result of head trauma. It is retroauricular or mastoid ecchymosis that is typically the result of head trauma. Battle sign typically requires significant head trauma and may indicate significant internal injury to the brain and not just the posterior cranial vault or mastoid.|HPO|N|
C0741453|Confined to bed (by illness).|NCI|N|
C0741469|A finding indicating elevated concentrations of human chorionicgonadotropin subunit beta in a sample.|NCI|N|
C0741494|Increased concentration of total (conjugated and unconjugated) bilirubin in the blood.|HPO|N|
C0741564|Incomplete sight.|NCI|N|
C0741585|Body ache is a complaint that is often used to denote vague symptoms of mild fatigue, lethargy, or dull aches. We will define it here to mean a dull and poorly localizable pain that is described by the affected individual to affect multiple joints or body parts or even the entire body.|HPO|N|
C0741698|Hyperplasia of the epithelial cells in the breast ducts. It includes the atypical ductal hyperplasia, papillary intraductal hyperplasia, intraductal myoepitheliosis, and ductal hyperplasia of the usual type.|NCI|N|
C0741796|An increased susceptibility to bronchitis as manifested by a history of recurrent bronchitis.|HPO|N|
C0741949|Cardiovascular Pathology; a subdiscipline of pathology focusing on diseases of the heart or circulatory system.|NCI|N|
C0741983|In response to carotid sinus baroreceptor stimulation, a ventricular pause lasting greater than 3 seconds and/or a fall in systolic BP of greater than 50 mmHg.|SNOMEDCT_US|N|
C0742014|A laboratory test result indicating the presence of an increased level of the tumor-associated antigen (TAA) CEA in a biological sample.|NCI|N|
C0742028|Wasting (atrophy) of the vermis of cerebellum.|HPO|N|
C0742078|A benign or malignant solid pathologic process involving the brain and/or the meninges.|NCI|N|
C0742115|Inflammation of the cerebrum.|NCI|N|
C0742135|An alteration in the cervix.|NCI|N|
C0742136|A benign neoplasm that arises from the cervix. It is associated with human papillomavirus infection and is characterized by the presence of papillary structures with fibrovascular cores. The papillary structures are covered with stratified squamous epithelium. Koilocytosis is usually present.|NCI|N|
C0742191|Atrophy of the cervical segment of the spinal cord.|HPO|N|
C0742232|An cervicitis (disease) caused by infection with Trichomonas vaginalis.|MONDO|N|
C0742343|A vaso-occlusive crisis of the pulmonary vasculature occurring in patients with sickle cell disease. It is characterized by the presence of a new radiodensity on a chest radiograph accompanied by fever, cough, sputum production, dyspnea, or hypoxia.|NCI|N|
C0742352|An abnormal growth in the chest wall.|NCI|N|
C0742468|A localized pathological or traumatic structural change, damage, deformity, or discontinuity in the central nervous system.|NCI|N|
C0742608|A serrated polypoid lesion that arises in the colon. It is usually found in the distant colon and it rarely produces symptoms. This group includes goblet cell rich, mucin poor, and microvesicular hyperplastic polyps.|NCI|N|
C0742747|A form of heart failure characterized by elevated cardiac output. This may be seen in patients with heart failure and hyperthyroidism, anemia, pregnancy, arteriovenous fistulae, and others.|HPO|N|
C0742965|Transmural inflammation of the bladder predominantly with eosinophils, associated with fibrosis with or without muscle necrosis.|HPO|N|
C0742969|An increased concentration of D-dimers, a marker of fibrin degradation, in the blood circulation.|HPO|N|
C0743086|An inflammatory reaction of the skin to various organic and inorganic antigens. It is characterized by tumor-like masses or nodules of granulomatous tissue comprised of activated histiocytes, epitheliod cells, and multinucleated giant cells.|NCI|N|
C0743284|Contact with drug.|NCI|N|
C0743301|A circumscribed neoplasm that arises from the glandular epithelium of the duodenum. Morphologically, it is characterized by a proliferation of neoplastic glandular cells and it is associated with dysplasia. According to the growth pattern, it may be classified as tubular, villous, or tubulovillous.|NCI|N|
C0743330|A perception of shortness of breath that occurs independently of exertion.|HPO|N|
C0743332|A type of dystonia that is localized to a specific part of the body.|HPO|N|
C0743360|Increased susceptibility to ear infections, as manifested by recurrent episodes of ear infections.|HPO|N|
C0743400|A finding indicating a decrease in the volume of blood ejected during ventricular heart contraction.|NCI|N|
C0743568|A carcinoma that arises from the esophagus and is not amenable to surgical resection.|NCI|N|
C0743838|Prolonged, extreme exhaustion after physical or mental effort or stress.|NCI|N|
C0743887|A partial or complete breakage of the head of femur.|HPO|N|
C0743924|A short femur length is defined as either a measurement below the 2.5th percentile for gestational age or a measurement that is less than 0.9 of that predicted by the measured biparietal diameter. The femur should be measured with the bone perpendicular to the ultrasound beam and with epiphyseal cartilages visible but not included in the measurement (PMID:16100637).|HPO|N|
C0743960|A fetal position during delivery in which the spine of the fetus is not aligned with the mother''s resulting in the descent into the birth canal in an oblique position.|NCI|N|
C0743961|A fetal position during delivery in which the alignment of the spine of the fetus is not parallel to the mother''s spine.|NCI|N|
C0743979|A symptom report of fever without an objective temperature measurement.|NCI|N|
C0743997|An abnormality noted on diagnostic testing that was not related to the reason that prompted the analysis.|NCI|N|
C0744049|An abnormal enlargement or swelling in the flank, which is the fleshy part of the side of the body between the ribs and the hip.|HPO|N|
C0744254|An acute or chronic infectious process affecting the gallbladder.|NCI|N|
C0744257|Abnormal increased in the thickness of the wall of the gallbladder.|HPO|N|
C0744273|A angiodysplasia that involves the stomach.|MONDO|N|
C0744282|An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the stomach.|HPO|N|
C0744295|A malignant neoplasm of the stomach that grows submucosally in the gastric wall. Necrosis and hemorrhage may be visible radiologically. Histologically, spindle cells with abnormal mitotic activity may be visible.|HPO|N|
C0744321|An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the gastrointestinal tract.|HPO|N|
C0744333|A polypoid tumor that arises from any part of the gastrointestinal tract and protrudes into the lumen. Representative examples include adenomatous polyps, hyperplastic polyps, and hamartomatous polyps.|NCI|N|
C0744356|An abnormality of the genital system.|HPO|N|
C0744403|An acute or chronic infectious process affecting the gums.|NCI|N|
C0744421|Inflammation of the glomeruli characterized by the accumulation of antibody-antigen immune complexes, resulting in glomerular damage and impaired kidney function.|NCI|N|
C0744514|A neoplasm that arises from the female reproductive system and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C0744619|A carcinoma that arises from the head and neck and has spread from the original site of growth to another anatomic site.|NCI|N|
C0744620|A head and neck squamous cell carcinoma which has spread from the original site of growth to another anatomic site.|NCI|N|
C0744679|The minimum time between successive cycles of contraction and subsequent relaxation of the heart, usually expressed as beats per minute, obtained from a set of measurements of the heart rate.|NCI|N|
C0744680|The maximum time between successive cycles of contraction and subsequent relaxation of the heart, usually expressed as beats per minute, obtained from a set of measurements of the heart rate.|NCI|N|
C0744727|A reduction below the normal ratio of the volume of red blood cells to the total volume of blood.|HPO|N|
C0744869|A hepatocellular carcinoma that has spread to another anatomic site.|NCI|N|
C0744897|A contraction of the diaphragm that repeats several times per minute. In humans, the abrupt rush of air into the lungs causes the epiglottis to close, creating a hic sound. Also known as synchronous diaphragmatic flutter (SDF), or singultus, from the Latin singult, the act of catching one's breath while sobbing. The hiccup is an involuntary action involving a reflex arc.|HPO|N|
C0744898|A rare movement disorder characterized by involuntary spasmodic contractions of the inspiratory muscles synchronized with larynx closure lasting for more than 48 hours.In rare pathological cases, hiccups may last for more than two days. Recurrent episodes over long periods are also called chronic hiccup. Clinical repercussions of these episodes may include dehydration, weight loss and malnutrition due to difficulty eating, sleep disorders, depression and exhaustion.|SNOMEDCT_US|N|
C0745037|Admission and confinement to a HOSPITAL without consent of person or persons confined.|MSH|N|
C0745091|A severely increased count of eosinophils in the blood defined as a blood eosinophil count of at least 1.5 billion cells per liter.|HPO|N|
C0745103|Familial hypercholesterolemia (FH) is characterized by significantly elevated low-density lipoprotein cholesterol (LDL-C) that leads to atherosclerotic plaque deposition in the coronary arteries and proximal aorta at an early age and increases the risk of premature cardiovascular events such as angina and myocardial infarction; stroke occurs more rarely. Xanthomas (cholesterol deposits in tendons) may be visible in the Achilles tendons or tendons of the hands and worsen with age as a result of extremely high cholesterol levels. Xanthelasmas (yellowish, waxy deposits) can occur around the eyelids. Individuals with FH may develop corneal arcus (white, gray, or blue opaque ring in the corneal margin as a result of cholesterol deposition) at a younger age than those without FH. Individuals with a more severe phenotype, often as a result of biallelic variants, can present with very significant elevations in LDL-C (>500 mg/dL), early-onset coronary artery disease (CAD; presenting as early as childhood in some), and calcific aortic valve disease.|GeneReviews|N|
C0745109|Increased amount of pigmentation in the macula lutea.|HPO|N|
C0745130|A severe medical condition which is estimated to appear in 9-18% of hypertensive patients, in which treatement with 3 or more antihypertensive drugs including diuretics are ineffective.|MONDO|N|
C0745133|Elevated systolic blood pressure without an elevated blood pressure.|HPO|N|
C0745176|Acute form of hypotension (disease).|MONDO|N|
C0745178|Shock resulting from abnormally low blood pressure.|NCI|N|
C0745216|A well differentiated, low grade neuroendocrine neoplasm (carcinoid tumor) that arises from the ileum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent.|NCI|N|
C0745261|A cessation of respiratory airflow that may affect infants of 1 to 23 months old, caused by neurological impairment of the respiratory rhythm or obstruction of airflow through the air passages. The symptoms include cyanosis, pallor or bradycardia and snoring in case of obstructive apnea.|SNOMEDCT_US|N|
C0745428|A quality of directional uniformity in material such that physical properties do not vary in different directions. (from Oilfield glossary).|NCI|N|
C0745499|An electrocardiographic finding of a junctional rhythm with a heat rate which is abnormally low. (CDISC)|NCI|N|
C0745541|A partial or complete breakage of the knee.|HPO|N|
C0745601|A circumscribed area of pus or necrotic debris in the labia.|HPO|N|
C0745730|The presence of multiple lipomas (a type of benign tissue made of fatty tissue).|HPO|N|
C0745744|A disorder characterized by irreversible damage to the liver tissue, leading to complete liver failure. Causes include cirrhosis, viral hepatitis, metastases to the liver, genetic disorders, toxins, and drugs.|NCI|N|
C0745754|A granuloma located in the liver.|NCI|N|
C0746102|According to the definitions of the American and British Thoracic Societies, including pulmonary functional tests, X-rays, and CT scans for items such as fibrosis, bronchiectasis, bullae, emphysema, nodular or lymphomatous abnormalities.|HPO|N|
C0746319|The presence of metastatic cancer cells in a lymph node.|NCI|N|
C0746341|The reemergence of Hodgkin lymphoma after a period of remission.|NCI|N|
C0746343|A lymphoma that is confined to a specific site without evidence of spread to other anatomic sites.|NCI|N|
C0746351|A proliferation of lymphocytes without atypia seen in infections, hypersensitivity reactions or autoimmune diseases.|NCI|N|
C0746459|Abnormal increase in the width of the mediastinum, often defined as being greater than 6 to 8 cm.|HPO|N|
C0746467|The current medications an individual is taking.|NCI|N|
C0746495|An increased susceptibility to meningitis as manifested by a medical history of recurrent episodes of meningitis.|HPO|N|
C0746674|Generalized weakness or decreased strength of the muscles, affecting both distal and proximal musculature.|HPO|N|
C0746727|A myocardial infarction (disease) that involves the cardiac septum.|MONDO|N|
C0746787|A primary or metastatic malignant neoplasm that affects the anatomic structures of the neck region.|NCI|N|
C0746866|Ability of the peripheral and central nervous systems to receive, process, and respond to internal and external stimuli|NOC|N|
C0746882|Neutropenia with an absolute neutrophil count (ANC) less than 1,500,000,000/L lasting for more than 3 months.|HPO|N|
C0746883|Neutropenia associated with fever, the latter indicating the presence of an infection.|NCI|N|
C0746919|An indication that no therapy was done or administered.|NCI|N|
C0746921|A benign or malignant solid pathologic process involving a lymph node.|NCI|N|
C0746935|Failure to follow prescribed regulated course of medicinal substances|CCC|N|
C0746961|A low level of the degree to which oxygen is bound to hemoglobin given as a percentage calculated by dividing the maximum oxygen capacity into the actual oxygen content and multiplying by 100. Oxygen saturation usually is measured using pulse oximetry.|NCI|N|
C0746977|Obesity in a female who has a child.|NCI|N|
C0747085|Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media.|HPO|N|
C0747102|The inability of the ovaries to function.|NCI|N|
C0747154|A squamous cell carcinoma that arises from the soft palate. It usually presents as an ulcerated or fungating mass.|NCI|N|
C0747158|A lump in the region of the palate. A mass is any lump in the body that can be caused by the abnormal growth of cells, a cyst, hormonal changes or an immune reaction. Typically a mass is an initial finding that will lead to additional workup.|HPO|N|
C0747241|A circumscribed, solid elevation of skin with no visible fluid that is reddish (erythematous) in color.|HPO|N|
C0747256|A successful invasion of a host by an organism that uses the host for food and shelter.|NCI|N|
C0747273|A primary or metastatic malignant neoplasm involving the parotid gland. Representative examples include carcinoma, malignant mixed tumor, and non-Hodgkin lymphoma.|NCI|N|
C0747479|An infectious process affecting the tissues that surround and support the teeth.|NCI|N|
C0747490|An accumulation of fluid in one or more of the perinephric spaces, which consist of the subcapsular, perirenal, anterior and posterior pararenal spaces. This abnormality can be demonstrated by cross-sectional imaging, particularly computed tomography.|HPO|N|
C0747533|Disease involving the common peroneal nerve or its branches, the deep and superficial peroneal nerves. Lesions of the deep peroneal nerve are associated with paralysis of dorsiflexion of the ankle and toes and loss of sensation from the web space between the first and second toe. Lesions of the superficial peroneal nerve result in weakness or paralysis of the peroneal muscles (which evert the foot) and loss of sensation over the dorsal and lateral surface of the leg. Traumatic injury to the common peroneal nerve near the head of the fibula is a relatively common cause of this condition. (From Joynt, Clinical Neurology, 1995, Ch51, p31)|MONDO|N|
C0747548|Carcinoma, predominantly squamous cell, arising from the epithelial cells of the pharynx.|NCI|N|
C0747556|An increased susceptibility to pharyngitis as manifested by a history of recurrent pharyngitis.|HPO|N|
C0747637|A pleural effusion that is typically characterized as more than one liter.|NCI|N|
C0747651|Increased susceptibility to aspiration pneumonia, defined as pneumonia due to breathing in foreign material, as manifested by a medical history of repeated episodes of aspiration pneumonia.|HPO|N|
C0747729|Polyarthritis refers to a joint disease that involves at least five joints. One or more signs of inflammation, including pain, movement restriction, swelling, warmth, and redness, are seen in the joints involved. Polyarthritis is defined as symmetric if at least half of the joints involved are affected in a symmetric (i.e., both right and the left) fashion.|HPO|N|
C0747742|A benign polypoid neoplasm of an epithelial lining projecting into a lumen or cavity. (CDISC)|NCI|N|
C0747772|Any adverse event that arises in the six week period immediately following the delivery of a fetus.|NCI|N|
C0747933|An electrocardiographic tracing demonstrating frequent premature ventricular contractions that exceed an acceptable, predetermined threshold. Different thresholds may apply to different patient populations.|NCI|N|
C0747936|An electrocardiographic finding of premature ventricular complexes which have two or more distinct morphologies, suggesting origin at more than one ventricular site. (CDISC)|NCI|N|
C0747987|An abnormality of the prostate.|HPO|N|
C0748023|An acute or chronic bacterial infection that affects the prostate gland.|NCI|N|
C0748076|A psychotic disorder characterized by prominent hallucinations or delusions that have been determined to be etiologically linked to a general medical condition.|NCI|N|
C0748164|Multiple, small, round or oval, benign or malignant growths in the lung(s), which can be due to infectious, inflammatory, or neoplastic processes.|NCI|N|
C0748168|The branch of pathology that focuses the causes and nature and effects of diseases of the lungs and respiratory structures.|NCI|N|
C0748199|Repeated episodes of pyelonephritis.|HPO|N|
C0748214|A squamous cell carcinoma that arises from the pyriform sinus. Patients usually present with advanced stage disease and the prognosis is poor.|NCI|N|
C0748226|Disease involving the radial nerve. Clinical features include weakness of elbow extension, elbow flexion, supination of the forearm, wrist and finger extension, and thumb abduction. Sensation may be impaired over regions of the dorsal forearm. Common sites of compression or traumatic injury include the axilla and radial groove of the humerus.|MONDO|N|
C0748283|A renal cyst characterized by epithelium lined space (squamous/columnar) with septations.|HPO|N|
C0748355|An abrupt onset of signs or symptoms indicating difficulty breathing including alterations in breath sounds and rate, chest retractions and color changes.|NCI|N|
C0748397|An autoimmune disorder characterized by the association of primary biliary cirrhosis with limited cutaneous systemic sclerosis. Onset occurs between 30-65 years. Occurs sporadically, but rare familial cases with an unknown inheritance pattern have been observed. There is no cure and management is mainly supportive.|SNOMEDCT_US|N|
C0748400|Rh-induced hemolytic disease of the fetus and newborn (HDFNRH) occurs in pregnancies in which mothers who lack the D antigen (RhD) of the Rh blood group (111690) have been exposed to the RhD-positive red cells of the fetus. The resulting maternal autoantibodies cross the placenta and destroy fetal red cells (summary by Urbaniak and Greiss, 2000).|OMIM|N|
C0748404|Rhabdomyosarcoma that has spread from its original site of growth to another anatomic site.|NCI|N|
C0748427|Increase in size of the right atrium.|HPO|N|
C0748428|A thrombus (i.e., a blood clot formed in situ within the vascular system) located in the right atrium of the heart.|HPO|N|
C0748473|Inflammation of the sacroiliac joint, generally accompanied by lower back pain.|HPO|N|
C0748505|A sarcoma that has spread from its original site of growth to another anatomic site.|NCI|N|
C0748540|Limited cutaneous systemic sclerosis (lcSSc) is a subtype of systemic sclerosis (SSc; see this term) characterized by the association of Raynaud's phenomenon with skin fibrosis limited to the hands, face, feet and forearms.|ORDO|N|
C0748594|These seizures originate at some point within, and rapidly engage, bilaterally distributed networks. They may involve musculature in any form. The motor event may consist of an increase (positive) or decrease (negative) in muscle contraction to produce a movement.|SNOMEDCT_US|N|
C0748616|A benign or malignant neoplasm that occurs in the sellar region. Representative examples include craniopharyngioma and pituitary gland adenoma.|NCI|N|
C0748861|A small cell neuroendocrine carcinoma that has metastasized from its original site of growth to another anatomic site.|NCI|N|
C0749095|Accumulation of blood in the SUBDURAL SPACE with delayed onset of neurological symptoms. Symptoms may include loss of consciousness, severe HEADACHE, and deteriorating mental status.|MSH|N|
C0749098|Accumulation of blood in the SUBDURAL SPACE with acute onset of neurological symptoms. Symptoms may include loss of consciousness, severe HEADACHE, and deteriorating mental status.|MSH|N|
C0749155|Enlarged lymph node located just above the clavicle (collarbone).|HPO|N|
C0749163|A squamous cell carcinoma of the larynx that arises from the supraglottic area. Signs and symptoms include dysphagia, a sensation of foreign body in the throat, and hemoptysis. It spreads to the space anterior to the epiglottis, pyriform sinus, and base of the tongue.|NCI|N|
C0749165|Inflammation of the EPIGLOTTIS and supraglottic structures including the PHARYNX; UVULA; base of tongue; and aryepiglottic folds. It is usually caused by HAEMOPHILUS INFLUENZAE in children but often by different organisms in adults.|MSH|N|
C0749192|An indication that an individual was offered surgical intervention but decline to undergo surgery.|NCI|N|
C0749201|Syncope following a quick change in position from lying down to standing.|HPO|N|
C0749394|Thrombocytopenia that occurs in patients with acquired immunodeficiency syndrome.|NCI|N|
C0749420|The congenital absence of the thyroid gland.|HPO|N|
C0749424|Hurthle cell carcinoma of the thyroid accounts for approximately 3% of all thyroid cancers. Although they are classified as variants of follicular neoplasms, they are more often multifocal and somewhat more aggressive and are less likely to take up iodine than are other follicular neoplasms (Sanders and Silverman, 1998).
Hurthle cell tumors, also known as oxyphil cell tumors, are composed of cells with increased numbers of mitochondria, which corresponds morphologically to their voluminous, granular, eosinophilic cytoplasm (Maximo et al., 2005).|OMIM|N|
C0749591|Inflammation of the palatine tonsils and the posterior pharynx (throat).|NCI|N|
C0749794|Congenital structural abnormalities of the UPPER EXTREMITY.|MSH|N|
C0749948|The need to increase intra-abdominal pressure in order to initiate and maintain voiding.|NCI|N|
C0750053|An abscess that is located in the vagina.|NCI|N|
C0750071|A superficial polypoid lesion that arises from the vagina. It is characterized by the presence of a fibroblastic stroma which is often myxoid, covered by squamous epithelial cells.|NCI|N|
C0750151|An exacerbation of sickle cell disease.|NCI|N|
C0750173|A condition that requires mechanical life support due to inability to breath effectively to maintain normal levels of oxygen and carbon dioxide in the body.|NCI|N|
C0750194|An electrocardiographic finding of ventricular tachycardia less than 30 seconds in duration.|NCI|N|
C0750280|An alteration in the visual system of an individual.|NCI|N|
C0750384|Warfarin is an oral anti-coagulant used world-wide to treat and prevent thrombotic disorders.  While it is highly effective, it has a very narrow therapeutic index making it difficult to dose correctly.  Genetic variants in cytochrome P450-2C9 (CYP2C9), vitamin K-epoxide reductase complex (VKORC1), cytochrome P450-CYP4F2 (CYP4F2) and the CYP2C cluster (eg. rs12777823), along with non-genetic factors, are known to affect warfarin dose variability. Patients with specific variants in the gene CYP2C9 (the primary warfarin-metabolizing enzyme) may require a lower dose of warfarin as compared to patients without these variants.  Patients with specific variants in VKORC1 (the target enzyme of warfarin) may require a lower warfarin dose as compared to patients who do not have these variants.  The combination of CYP2C9/VKORC1/CYP4F2/CYP2C genetic variants, along with clinical factors, can put some patients at risk for therapeutic failure or adverse events such as bleeding.  Guidelines regarding the use of pharmacogenomic tests in dosing for warfarin have been published in Clinical Pharmacology and Therapeutics by the Clinical Pharmacogenetics Implementation Consortium (CPIC) and are available on the CPIC and PharmGKB websites.|PharmGKB|N|
C0750394|A laboratory test result indicating a decreased number of white blood cells in the peripheral blood.|NCI|N|
C0750426|A laboratory test result indicating an increased number of white blood cells in the peripheral blood.|NCI|N|
C0750484|Having been established or verified.|NCI|N|
C0750558|Having little chance of being the case or of coming about.|NCI|N|
C0750731|Externally visible physical characteristics of a body.|MSH|N|
C0750815|An extranodal non-Hodgkin lymphoma that arises from the colon. The majority are B-cell non-Hodgkin lymphomas.|NCI|N|
C0750818|Lymphomatoid granulomatosis that affects the brain, spinal cord, and leptomeninges.|NCI|N|
C0750887|A primary or metastatic malignant neoplasm affecting the adrenal gland.|NCI|N|
C0750903|A nonspecific term referring to impaired vision. Major subcategories include stimulus deprivation-induced amblyopia and toxic amblyopia. Stimulus deprivation-induced amblyopia is a developmental disorder of the visual cortex. A discrepancy between visual information received by the visual cortex from each eye results in abnormal cortical development. strabismus and refractive errors may cause this condition. Toxic amblyopia is a disorder of the optic nerve which is associated with alcoholism, tobacco smoking, and other toxins and as an adverse effect of the use of some medications.|MONDO|N|
C0750927|All FOXP2-related speech and language disorders, regardless of the underlying genetic alteration, have a core phenotype: childhood apraxia of speech (CAS), a disorder of speech motor programming or planning that affects the production, sequencing, timing, and stress of sounds, syllables, and words. All individuals with CAS – whether caused by an alteration of FOXP2 or of an unknown cause – have difficulties in automatically and accurately sequencing speech sounds into syllables, syllables into words, and words into sentences with the correct prosody. Additional findings in FOXP2-related speech and language disorders can include oral motor dyspraxia (difficulty planning or programming oral movements on command); dysarthria (a neuromuscular-based speech disorder that may affect nasal resonance, voice quality, prosody, and breath support for speech); moderate to severe receptive and expressive language disorder; and reading and spelling impairments. The underlying genetic cause of FOXP2-related speech and language disorders is either disruption of FOXP2 only (referred to in this GeneReview as FOXP2-only-related speech and language disorder) or large copy number variants (i.e., contiguous gene deletions), structural variants (i.e., chromosome translocation or inversion), or maternal uniparental disomy of chromosome 7 (UPD7) involving FOXP2 (here referred to as FOXP2-plus-related speech and language disorders). The genetic alteration determines if only speech and language problems are present (FOXP2-only-related speech and language disorder) or if more global developmental and behavioral issues are likely to be present as well (FOXP2-plus-related speech and language disorder). In FOXP2-only-related disorders, nonverbal (performance) IQ is typically more preserved compared to verbal IQ. Fine motor skills may be impaired (e.g., buttoning clothes, tying shoelaces), yet gross motor skills are normal. Autistic features and dysmorphic findings have been reported in a few affected individuals. In FOXP2-plus-related disorders oral motor deficits, global developmental delay, and autism spectrum disorder are common.|GeneReviews|N|
C0750929|Arnold-Chiari type I malformation refers to a relatively mild degree of herniation of the posteroinferior region of the cerebellum (the cerebellar tonsils) into the cervical canal with little or no displacement of the fourth ventricle. It is characterized by one or both pointed (not rounded) cerebellar tonsils that project 5 mm below the foramen magnum, measured by a line drawn from the basion to the opisthion (McRae Line)|HPO|N|
C0750931|A type of Chiari malformation that involves herniation of the hindbrain (cerebellum with or without the brainstem) into a low occipital or high cervical meningoencephalocele.|HPO|N|
C0750935|An astrocytoma that arises from the cerebral hemispheres.|NCI|N|
C0750937|A kind of ataxia that affects movements of the extremities.|HPO|N|
C0750940|Rubral tremor is characterized by a slow coarse tremor at rest that is exacerbated by postural adjustments and by guided voluntary movements.|HPO|N|
C0750945|A disease or disorder that involves the parasympathetic nervous system.|MONDO|N|
C0750946|A disease or disorder that involves the sympathetic nervous system.|MONDO|N|
C0750952|A malignant neoplasm involving the biliary tree|MONDO|N|
C0750974|A neoplasm arising from the brain.|NCI|N|
C0750977|The reemergence of a brain neoplasm after a period of remission.|NCI|N|
C0750995|A neoplasm that arises from the cerebellum and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C0751001|Outpouching of BASILAR ARTERY at the base of the skull. The basilar artery is the most important artery in the posterior cerebral circulation.|MSH|N|
C0751002|A widening (ballooning) localized in the wall of the posterior communicating artery.|HPO|N|
C0751003|A congenital or acquired aneurysm within the cranium.|MONDO|N|
C0751024|A form of cerebral palsy where no predominant motion can be determined; when it is a mixed CP form, i.e. spasticity with ataxia and/or dyskinesia, the child should be classified according to the dominant clinical feature|SNOMEDCT_US|N|
C0751036|Charcot-Marie-Tooth disease type 1 (CMT1) is a group of autosomal dominant demyelinating peripheral neuropathies characterized by distal weakness and atrophy, sensory loss, foot deformities, and slow nerve conduction velocity.|ORDO|N|
C0751037|Cockayne syndrome is a rare autosomal recessive disease, manifestations may include short stature, progeria, photosensitivity, and learning delay, failure to thrive in the newborn, microcephaly and neurological developmental delay. Type 3 Cockayne syndrome, is the mildest type.|SNOMEDCT_US|N|
C0751038|Cockayne syndrome (referred to as CS in this GeneReview) spans a continuous phenotypic spectrum that includes: CS type I, the "classic" or "moderate" form; CS type II, a more severe form with symptoms present at birth; this form overlaps with cerebrooculofacioskeletal (COFS) syndrome; CS type III, a milder and later-onset form; COFS syndrome, a fetal form of CS. CS type I is characterized by normal prenatal growth with the onset of growth and developmental abnormalities in the first two years. By the time the disease has become fully manifest, height, weight, and head circumference are far below the fifth percentile. Progressive impairment of vision, hearing, and central and peripheral nervous system function leads to severe disability; death typically occurs in the first or second decade. CS type II is characterized by growth failure at birth, with little or no postnatal neurologic development. Congenital cataracts or other structural anomalies of the eye may be present. Affected children have early postnatal contractures of the spine (kyphosis, scoliosis) and joints. Death usually occurs by age five years. CS type III is a phenotype in which major clinical features associated with CS only become apparent after age two years; growth and/or cognition exceeds the expectations for CS type I. COFS syndrome is characterized by very severe prenatal developmental anomalies (arthrogryposis and microphthalmia).|GeneReviews|N|
C0751039|Cockayne syndrome (referred to as CS in this GeneReview) spans a continuous phenotypic spectrum that includes: CS type I, the "classic" or "moderate" form; CS type II, a more severe form with symptoms present at birth; this form overlaps with cerebrooculofacioskeletal (COFS) syndrome; CS type III, a milder and later-onset form; COFS syndrome, a fetal form of CS. CS type I is characterized by normal prenatal growth with the onset of growth and developmental abnormalities in the first two years. By the time the disease has become fully manifest, height, weight, and head circumference are far below the fifth percentile. Progressive impairment of vision, hearing, and central and peripheral nervous system function leads to severe disability; death typically occurs in the first or second decade. CS type II is characterized by growth failure at birth, with little or no postnatal neurologic development. Congenital cataracts or other structural anomalies of the eye may be present. Affected children have early postnatal contractures of the spine (kyphosis, scoliosis) and joints. Death usually occurs by age five years. CS type III is a phenotype in which major clinical features associated with CS only become apparent after age two years; growth and/or cognition exceeds the expectations for CS type I. COFS syndrome is characterized by very severe prenatal developmental anomalies (arthrogryposis and microphthalmia).|GeneReviews|N|
C0751042|Genetic based difficulty in distinguishing colors.|NCI|N|
C0751053|A period of confusion following a seizure in which the patient does not respond appropriately despite appearing awake.|NCI|N|
C0751054|A level of awareness and arousal other than normal.|NCI|N|
C0751057|A febrile seizure that has any of the following features|HPO|N|
C0751072|Heterogeneous group of neurodegenerative disorders characterized by frontal and temporal lobe atrophy associated with neuronal loss, gliosis, and dementia. Patients exhibit progressive changes in social, behavioral, and/or language function. Multiple subtypes or forms are recognized based on presence or absence of TAU PROTEIN inclusions. FTLD includes three clinical syndromes: FRONTOTEMPORAL DEMENTIA, semantic dementia, and PRIMARY PROGRESSIVE NONFLUENT APHASIA.|MSH|N|
C0751075|A primary or metastatic malignant neoplasm involving any part of the digestive system.|MONDO|N|
C0751083|Duane syndrome is a strabismus condition clinically characterized by congenital non-progressive limited horizontal eye movement accompanied by globe retraction which results in narrowing of the palpebral fissure. The lateral movement anomaly results from failure of the abducens nucleus and nerve (cranial nerve VI) to fully innervate the lateral rectus muscle; globe retraction occurs as a result of abnormal innervation of the lateral rectus muscle by the oculomotor nerve (cranial nerve III). At birth, affected infants have restricted ability to move the affected eye(s) outward (abduction) and/or inward (adduction), though the limitations may not be recognized in early infancy. In addition, the globe retracts into the orbit with attempted adduction, accompanied by narrowing of the palpebral fissure. Many individuals with Duane syndrome have strabismus in primary gaze but can use a compensatory head turn to align the eyes, and thus can preserve binocular vision and avoid diplopia. Individuals with Duane syndrome who lack binocular vision are at risk for amblyopia. The majority of affected individuals with Duane syndrome have isolated Duane syndrome (i.e., they do not have other detected congenital anomalies). Other individuals with Duane syndrome fall into well-defined syndromic diagnoses. However, many individuals with Duane syndrome have non-ocular findings that do not fit a known syndrome; these individuals are included as part of the discussion of nonsyndromic Duane syndrome.|GeneReviews|N|
C0751093|A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the limbs.|HPO|N|
C0751098|Viral encephalitis that is transmitted by mosquitos.|NCI|N|
C0751101|An acute or subacute inflammatory process of the central nervous system characterized histologically by multiple foci of perivascular demyelination. Symptom onset usually occurs several days after an acute viral infection or immunization, but it may coincide with the onset of infection or rarely no antecedent event can be identified. Clinical manifestations include confusion, somnolence, fever, nuchal rigidity, and involuntary movements. The illness may progress to coma and eventually be fatal. (Adams et al., Principles of Neurology, 6th ed, p921)|MONDO|N|
C0751112|A seizure with no apparent symptoms.|NCI|N|
C0751120|A type of epilepsy that presents with myoclonic epileptic seizures between 4 months and 3 years of age, in an otherwise normal infant. The myoclonic epileptic seizures may be activated by sudden noise, startle, or touch, and less commonly by photic stimulation. The electroencephalogram must capture generalized epileptiform discharges or myoclonic epileptic seizures and have a normal background.|SNOMEDCT_US|N|
C0751122|SCN1A seizure disorders encompass a spectrum that ranges from simple febrile seizures and generalized epilepsy with febrile seizures plus (GEFS+) at the mild end to Dravet syndrome and intractable childhood epilepsy with generalized tonic-clonic seizures (ICE-GTC) at the severe end. Phenotypes with intractable seizures including Dravet syndrome are often associated with cognitive decline. Less commonly observed phenotypes include myoclonic astatic epilepsy (MAE), Lennox-Gastaut syndrome, infantile spasms, epilepsy with focal seizures, and vaccine-related encephalopathy and seizures. The phenotype of SCN1A seizure disorders can vary even within the same family.|GeneReviews|N|
C0751157|Intellectual developmental disorder-109 (MRX109) is characterized by mildly to moderately impaired intellectual development associated with learning difficulties, communication deficits, attention problems, hyperactivity, and autistic behavior (summary by Bensaid et al., 2009). The disorder, which is associated with a fragile site on chromosome Xq28 (FRAXE), can be caused either by silencing of the FMR2 gene as a consequence of a CCG expansion located upstream of this gene or by deletion within the gene (Stettner et al., 2011).|OMIM|N|
C0751161|Epimerase deficiency galactosemia (GALE deficiency galactosemia) is generally considered a continuum comprising several forms: Generalized. Enzyme activity is profoundly decreased in all tissues tested. Peripheral. Enzyme activity is deficient in red blood cells (RBC) and circulating white blood cells, but normal or near normal in all other tissues. Intermediate. Enzyme activity is deficient in red blood cells and circulating white blood cells and less than 50% of normal levels in other cells tested. Infants with generalized epimerase deficiency galactosemia develop clinical findings on a regular milk diet (which contains lactose, a disaccharide of galactose and glucose); manifestations include hypotonia, poor feeding, vomiting, weight loss, jaundice, hepatomegaly, liver dysfunction, aminoaciduria, and cataracts. Prompt removal of galactose/lactose from their diet resolves or prevents these acute symptoms. Longer-term features that may be seen in those with generalized epimerase deficiency include short stature, developmental delay, sensorineural hearing loss, and skeletal anomalies. In contrast, neonates with the peripheral or intermediate form generally remain clinically well even on a regular milk diet and are usually only identified by biochemical testing, often in newborn screening programs.|GeneReviews|N|
C0751173|The non-classic form of infantile-onset Pompe disease usually appears by age 1. It is characterized by delayed motor skills (such as rolling over and sitting) and progressive muscle weakness. The heart may be abnormally large (cardiomegaly), but affected individuals usually do not experience heart failure. The muscle weakness in this disorder leads to serious breathing problems, and most children with non-classic infantile-onset Pompe disease live only into early childhood.\n\nThe late-onset type of Pompe disease may not become apparent until later in childhood, adolescence, or adulthood. Late-onset Pompe disease is usually milder than the infantile-onset forms of this disorder and is less likely to involve the heart. Most individuals with late-onset Pompe disease experience progressive muscle weakness, especially in the legs and the trunk, including the muscles that control breathing. As the disorder progresses, breathing problems can lead to respiratory failure.\n\nThe classic form of infantile-onset Pompe disease begins within a few months of birth. Infants with this disorder typically experience muscle weakness (myopathy), poor muscle tone (hypotonia), an enlarged liver (hepatomegaly), and heart defects. Affected infants may also fail to gain weight and grow at the expected rate (failure to thrive) and have breathing problems. If untreated, this form of Pompe disease leads to death from heart failure in the first year of life.\n\nResearchers have described three types of Pompe disease, which differ in severity and the age at which they appear. These types are known as classic infantile-onset, non-classic infantile-onset, and late-onset.\n\nPompe disease is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. The accumulation of glycogen in certain organs and tissues, especially muscles, impairs their ability to function normally.|MedlinePlus Genetics|N|
C0751185|Headache triggered by coughing or straining in the absence of an intracranial disorder.|NCI|N|
C0751188|A secondary headache disorder attributed to low CEREBROSPINAL FLUID pressure caused by SPINAL PUNCTURE, usually after dural or lumbar puncture.|MSH|N|
C0751194|Subdural hematoma of the SPINAL CANAL.|MSH|N|
C0751202|Homocystinuria caused by cystathionine ß-synthase (CBS) deficiency is characterized by involvement of the eye (ectopia lentis and/or severe myopia), skeletal system (excessive height, long limbs, scolioisis, and pectus excavatum), vascular system (thromboembolism), and CNS (developmental delay/intellectual disability). All four ? or only one ? of the systems can be involved; expressivity is variable for all of the clinical signs. It is not unusual for a previously asymptomatic individual to present in adult years with only a thromboembolic event that is often cerebrovascular. Two phenotypic variants are recognized, B6-responsive homocystinuria and B6-non-responsive homocystinuria. B6-responsive homocystinuria is usually milder than the non-responsive variant. Thromboembolism is the major cause of early death and morbidity. IQ in individuals with untreated homocystinuria ranges widely, from 10 to 138. In B6-responsive individuals the mean IQ is 79 versus 57 for those who are B6-non-responsive. Other features that may occur include: seizures, psychiatric problems, extrapyramidal signs (e.g., dystonia), hypopigmentation of the skin and hair, malar flush, livedo reticularis, and pancreatitis.|GeneReviews|N|
C0751208|Adult-onset Huntington's disease, the most common form of this disorder, usually appears in a person's thirties or forties. Early signs and symptoms can include irritability, depression, small involuntary movements, poor coordination, and trouble learning new information or making decisions. Many people with Huntington's disease develop involuntary jerking or twitching movements known as chorea. As the disease progresses, these movements become more pronounced. Affected individuals may have trouble walking, speaking, and swallowing. People with this disorder also experience changes in personality and a decline in thinking and reasoning abilities. Individuals with the adult-onset form of Huntington's disease usually live about 15 to 20 years after signs and symptoms begin.\n\nA less common form of Huntington's disease known as the juvenile form begins in childhood or adolescence. It also involves movement problems and mental and emotional changes. Additional signs of the juvenile form include slow movements, clumsiness, frequent falling, rigidity, slurred speech, and drooling. School performance declines as thinking and reasoning abilities become impaired. Seizures occur in 30 percent to 50 percent of children with this condition. Juvenile Huntington's disease tends to progress more quickly than the adult-onset form; affected individuals usually live 10 to 15 years after signs and symptoms appear.\n\nHuntington's disease is a progressive brain disorder that causes uncontrolled movements, emotional problems, and loss of thinking ability (cognition).|MedlinePlus Genetics|N|
C0751226|Disorders characterized by hypersomnolence during normal waking hours that may impair cognitive functioning. Subtypes include primary hypersomnia disorders (e.g., idiopathic hypersomnolence; narcolepsy; and kleine-levin syndrome) and secondary hypersomnia disorders where excessive somnolence can be attributed to a known cause (e.g., drug affect, mental disorders, and sleep apnea syndrome). (From J Neurol Sci 1998 Jan 8;153(2):192-202; Thorpy, Principles and Practice of Sleep Medicine, 2nd ed, p320)|MONDO|N|
C0751230|Hypothalamic dysfunction refers to a condition in which the hypothalamus is not working properly. The hypothalamus produces hormones that control body temperature, hunger, moods, release of hormones from many glands such as the pituitary gland, sex drive, sleep, and thirst. The signs and symptoms patients havevary depending on the hormones missing.Anumber of different causes including anorexia, bleeding, genetic disorder, tumors, and more have been linked to hypothalamic dysfunction. Treatment depends on the cause of the hypothalamic dysfunction.|MONDO|N|
C0751238|A primary or metastatic malignant neoplasm that affects the hypothalamus.|NCI|N|
C0751249|Insomnia that has persisted at least one month.|NCI|N|
C0751254|Genetic prion disease generally manifests with cognitive difficulties, ataxia, and myoclonus (abrupt jerking movements of muscle groups and/or entire limbs). The order of appearance and/or predominance of these features and other associated neurologic and psychiatric findings vary. The three major phenotypes of genetic prion disease are genetic Creutzfeldt-Jakob disease (gCJD), fatal familial insomnia (FFI), and Gerstmann-Sträussler-Scheinker (GSS) syndrome. Although these phenotypes display overlapping clinical and pathologic features, recognition of these phenotypes can be useful when providing affected individuals and their families with information about the expected clinical course. The age at onset typically ranges from 50 to 60 years. The disease course ranges from a few months in gCJD and FFI to a few (up to 4, and in rare cases up to 10) years in GSS syndrome.|GeneReviews|N|
C0751255|A malignant neoplasm involving the jaw skeleton|MONDO|N|
C0751257|A disorder characterized by impairment of the auditory processing, resulting in deficiencies in the recognition and interpretation of sounds by the brain. Causes include brain maturation delays and brain traumas or tumors.|NCI|N|
C0751265|A group of disorders that affect a person's ability to learn or process specific types of information which is in contrast to his/her apparent level of intellect.|MONDO|N|
C0751276|A subtype of Metachromatic leukodystrophy characterized by progressive psychomotor regression with an onset between 30 months and 16 years of age, often beginning with behavioral abnormalities or deterioration of school performance. Further manifestations are ataxia, gait disturbances, reduced deep tendon reflexes, spasticity, seizures, paralysis, dementia, and loss of speech, vision, and hearing, eventually resulting in complete loss of motor and cognitive skills, and decerebration. The rate of deterioration is variable with possible survival up to the third decade of life.|ORDO|N|
C0751278|A subtype of Metachromatic leukodystrophy characterized by rapidly progressive psychomotor regression with an onset before 30 months of age after a period of apparently normal development. Manifestations developing during the course of the disease are impaired feeding and swallowing due to pseudobulbar palsies, seizures, painful spasms, muscle weakness, ataxia, paralysis, dementia, and loss of speech, vision, and hearing, quickly resulting in complete loss of motor and cognitive skills, and decerebration. Death occurs within the first decade of life.|ORDO|N|
C0751279|A subtype of Metachromatic leukodystrophy characterized by progressive psychomotor regression with an insidious onset after the age of 16 years, most often beginning with intellectual and behavioral changes, such as memory deficits or emotional instability. The clinical picture is dominated by gradual cognitive, later also motor, decline, taking a protracted course with periods of waxing and waning. Decerebration and death occur within decades after disease onset.|ORDO|N|
C0751280|Necrosis and softening of the white matter around the ventricles in the brain associated with cystic changes.|NCI|N|
C0751285|Thiamine-responsive maple syrup urine disease (thiamine-responsive MSUD) is a less severe variant of MSUD (see this term) that manifests with a phenotype similar to intermediate MSUD (see this term) but that responds positively to treatment with thiamine.|ORDO|N|
C0751291|Medulloblastoma with extensive nodularity and advanced neuronal differentiation.|SNOMEDCT_US|N|
C0751297|A malignant neoplasm that has spread from its original site to the two innermost layers of tissue that cover the brain and spinal cord.|NCI|N|
C0751303|A meningioma that affects the cerebral sulcus.|NCI|N|
C0751304|A meningioma that affects the superior sagittal sinus and invades the parasagittal angle.|NCI|N|
C0751335|The autosomal dominant TRPV4 disorders (previously considered to be clinically distinct phenotypes before their molecular basis was discovered) are now grouped into neuromuscular disorders and skeletal dysplasias; however, the overlap within each group is considerable. Affected individuals typically have either neuromuscular or skeletal manifestations alone, and in only rare instances an overlap syndrome has been reported. The three autosomal dominant neuromuscular disorders (mildest to most severe) are: Charcot-Marie-Tooth disease type 2C. Scapuloperoneal spinal muscular atrophy. Congenital distal spinal muscular atrophy. The autosomal dominant neuromuscular disorders are characterized by a congenital-onset, static, or later-onset progressive peripheral neuropathy with variable combinations of laryngeal dysfunction (i.e., vocal fold paresis), respiratory dysfunction, and joint contractures. The six autosomal dominant skeletal dysplasias (mildest to most severe) are: Familial digital arthropathy-brachydactyly. Autosomal dominant brachyolmia. Spondylometaphyseal dysplasia, Kozlowski type. Spondyloepiphyseal dysplasia, Maroteaux type. Parastremmatic dysplasia. Metatropic dysplasia. The skeletal dysplasia is characterized by brachydactyly (in all 6); the five that are more severe have short stature that varies from mild to severe with progressive spinal deformity and involvement of the long bones and pelvis. In the mildest of the autosomal dominant TRPV4 disorders life span is normal; in the most severe it is shortened. Bilateral progressive sensorineural hearing loss (SNHL) can occur with both autosomal dominant neuromuscular disorders and skeletal dysplasias.|GeneReviews|N|
C0751336|Distal myopathy refers to a group of muscle diseases which share the clinical pattern of predominant weakness and atrophy beginning in the feet and/or hands.|ORDO|N|
C0751337|Emery-Dreifuss muscular dystrophy (EDMD) is characterized by the clinical triad of: joint contractures that begin in early childhood; slowly progressive muscle weakness and wasting initially in a humero-peroneal distribution that later extends to the scapular and pelvic girdle muscles; and cardiac involvement that may manifest as palpitations, presyncope and syncope, poor exercise tolerance, and congestive heart failure along with variable cardiac rhythm disturbances. Age of onset, severity, and progression of muscle and cardiac involvement demonstrate both inter- and intrafamilial variability. Clinical variability ranges from early onset with severe presentation in childhood to late onset with slow progression in adulthood. In general, joint contractures appear during the first two decades, followed by muscle weakness and wasting. Cardiac involvement usually occurs after the second decade and respiratory function may be impaired in some individuals.|GeneReviews|N|
C0751349|Marked, involuntary jerking of the eyelids.|HPO|N|
C0751352|Myoclonus that occurs during the initial phases of sleep.|HPO|N|
C0751354|A type of myoclonus (arrhythmic muscular jerking) that is induced by voluntary movement. It is made worse by attempts at precise or coordinated movement (intention myoclonus) and may also be provoked by certain sensory stimuli.|HPO|N|
C0751356|An umbrella term for diseases which have chronic muscle inflammation and weakness of unknown etiology. The types of idiopathic inflammatory myopathy are further defined by either clinicopathologic criteria or by the presence of certain autoantibodies.|NCI|N|
C0751357|A rare idiopathic inflammatory myopathy characterized by a localized swelling of skeletal muscle that is usually located in the lower extremities.|ORPHANET|N|
C0751359|A localized myotonic contraction in a muscle in reaction to percussion (tapping with the examiner's finger, a rubber percussion hammer, or a similar object).|HPO|N|
C0751360|Myotonia congenita is characterized by muscle stiffness present from childhood; all striated muscle groups including the extrinsic eye muscles, facial muscles, and tongue may be involved. Stiffness is relieved by repeated contractions of the muscle (the "warm-up" phenomenon). Muscles are usually hypertrophic. Whereas autosomal recessive (AR) myotonia congenita is often associated with more severe manifestations (such as progressive minor distal weakness and attacks of transient weakness brought on by movement after rest), autosomal dominant (AD) myotonia congenita is not. The age of onset varies: in AD myotonia congenita onset is usually in infancy or early childhood; in AR myotonia congenita the average age of onset is slightly older. In both AR and AD myotonia congenita onset may be as late as the third or fourth decade of life.|GeneReviews|N|
C0751362|Narcolepsy is a chronic sleep disorder that disrupts the normal sleep-wake cycle. Although this condition can appear at any age, it most often begins in adolescence.\n\nSome people with narcolepsy have all of the major features of the disorder, while others have only one or two. Most of the signs and symptoms persist throughout life, although episodes of cataplexy may become less frequent with age and treatment.\n\nNarcolepsy is characterized by excessive daytime sleepiness. Affected individuals feel tired during the day, and several times a day they may experience an overwhelming urge to sleep. "Sleep attacks" can occur at unusual times, such as during a meal or in the middle of a conversation. They last from a few seconds to a few minutes and often lead to a longer nap, after which affected individuals wake up feeling refreshed.\n\nAnother common feature of narcolepsy is cataplexy, which is a sudden loss of muscle tone in response to strong emotion (such as laughing, surprise, or anger). These episodes of muscle weakness can cause an affected person to slump over or fall, which occasionally leads to injury. Episodes of cataplexy usually last just a few seconds, and they may occur from several times a day to a few times a year. Most people diagnosed with narcolepsy also have cataplexy. However, some do not, which has led researchers to distinguish two major forms of the condition: narcolepsy with cataplexy and narcolepsy without cataplexy.\n\nNarcolepsy also affects nighttime sleep. Most affected individuals have trouble sleeping for more than a few hours at night. They often experience vivid hallucinations while falling asleep (hypnogogic hallucinations) or while waking up (hypnopompic hallucinations). Affected individuals often have realistic and distressing dreams, and they may act out their dreams by moving excessively or talking in their sleep. Many people with narcolepsy also experience sleep paralysis, which is an inability to move or speak for a short period while falling asleep or awakening. The combination of hallucinations, vivid dreams, and sleep paralysis is often frightening and unpleasant for affected individuals.|MedlinePlus Genetics|N|
C0751366|A malignant neoplasm arising in a site exposed to radiation therapy.|NCI|N|
C0751381|A rare genetic neurological disorder characterized by adult onset of peripheral nerve hyperexcitability causing painful muscle cramps and fasciculations in the limbs, hyperreflexia, stiffness, and muscle pain. Other hypersensitivity-hyperexcitability symptoms are asthma, gastroesophageal reflux, migraine, tremor, cold hyperalgesia, and cardiac conduction defects. Autonomic signs and symptoms, neuropathic pain, cognitive deficits, and anxiety are also observed.|ORPHANET|N|
C0751383|The neuronal ceroid lipofuscinoses (NCL; CLN) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally. The clinical course includes progressive dementia, seizures, and progressive visual failure (Mole et al., 2005).
The hallmark of CLN3 is the ultrastructural pattern of lipopigment with a 'fingerprint' profile, which can have 3 different appearances: pure within a lysosomal residual body; in conjunction with curvilinear or rectilinear profiles; and as a small component within large membrane-bound lysosomal vacuoles. The combination of fingerprint profiles within lysosomal vacuoles is a regular feature of blood lymphocytes from patients with CLN3 (Mole et al., 2005).
For a general phenotypic description and a discussion of genetic heterogeneity of CLN, see CLN1 (256730).|OMIM|N|
C0751394|Your paranasal sinuses are small hollow spaces around the nose. They are lined with cells that make mucus, which keeps your nose from drying out. The nasal cavity is the passageway just behind your nose. Air passes through it on the way to your throat as you breathe.CHAR(13) Cancer of the nasal cavity and paranasal sinuses is rare. You are at greater risk if you are:CHAR(13) 	-Male and over 40 years old. CHAR(13) 	-Exposed to certain workplace chemicals. CHAR(13) 	-Infected with HPV. CHAR(13) 	-A smoker. CHAR(13)  There may be no symptoms at first, and later symptoms can be like those of infections. Doctors diagnose nasal cancer with imaging tests, lighted tube-like instruments that look inside the nose, and biopsies. Treatment options include surgery, radiation, and chemotherapy. CHAR(13) NIH: National Cancer InstituteCHAR(13)|MEDLINEPLUS|N|
C0751401|Ophthalmoplegia is a paralysis or weakness of one or more of the muscles that control eye movement.|HPO|N|
C0751416|A primary or metastatic malignant neoplasm that affects the organs and structures of the pelvis.|NCI|N|
C0751422|An instance of periodic fever syndrome that is caused by an inherited modification of the individual's genome.|MONDO|N|
C0751428|Malignant growth of cells in the peripheral nervous system (PNS)or Autonomic Nervous System (ANS), without specification as to location|NCI|N|
C0751434|Phenylketonuria (commonly known as PKU) is an inherited disorder that increases the levels of a substance called phenylalanine in the blood. Phenylalanine is a protein building block (an amino acid) that is obtained from eating certain foods (such as meat, eggs, nuts, and milk) and in some artificial sweeteners. If PKU is not treated, phenylalanine can build up to harmful levels in the body, causing intellectual disability and other serious health problems.\n\nThe signs and symptoms of PKU vary from mild to severe. The most severe form of this disorder is known as classic PKU. Infants with classic PKU appear normal until they are a few months old. Without treatment, these children develop permanent intellectual disability. Seizures, delayed development, behavioral problems, and psychiatric disorders are also common. Untreated individuals may have a musty or mouse-like odor as a side effect of excess phenylalanine in the body. Children with classic PKU tend to have lighter skin and hair than unaffected family members and are also likely to have skin disorders such as eczema.\n\nLess severe forms of this condition, sometimes called variant PKU and non-PKU hyperphenylalaninemia, have a smaller risk of brain damage. People with very mild cases may not require treatment.\n\nPKU can often be managed by following a diet that is low in phenylalanine. Since phenylalanine is found in all proteins, the PKU diet consists of avoiding meat, dairy, nuts, tofu, and other foods that are high in protein. Infants with PKU need to be fed with a low-protein formula. Affected individuals are often limited to certain fruits and vegetables and foods containing fats and sugars (such as butter, jelly, pasta, and potato chips). The artificial sweeter aspartame, which is found in diet soda and many other low-calorie items, should be avoided as it contains high amounts of phenylalanine. The amount of phenylalanine that is safe to consume is different for each person. Affected individuals should work with a health care professional to develop an individualized diet. \n\nBabies born to mothers who have PKU and are not following a low-phenylalanine diet have a significant risk of intellectual disability because they are exposed to very high levels of phenylalanine before birth. These infants may also have a low birth weight and grow more slowly than other children. They may also have heart defects or other heart problems, an abnormally small head size (microcephaly), and behavioral problems. Women with PKU who are not following a low-phenylalanine diet (and may have high levels of phenylalanine) also have higher risk of pregnancy loss.\n\n|MedlinePlus Genetics|N|
C0751435|An increased concentration of L-phenylalanine in the blood.|HPO|N|
C0751436|An amino acid disorder with neonatal onset that is clinically characterized by the classic manifestations of phenylketonuria (PKA) and that later on is clinically differentiated by neurologic symptoms such as microcephaly, intellectual disability, central hypotonia, delayed motor development, peripheral spasticity and seizures, that develop and persist despite an established metabolic control of plasma phenylalanine.|ORDO|N|
C0751437|A disease that involves the adenohypophysis.|MONDO|N|
C0751466|An abnormally heightened sensitivity to loud sounds.|HPO|N|
C0751470|A type of primitive reflex characterized by an involuntary contraction of the mentalis muscle of the chin caused by stimulation of the thenar eminence of the palm.|HPO|N|
C0751483|An inherited malignant tumor that originates in the nuclear layer of the retina. A predisposition to retinoblastoma has been associated with 13q14 cytogenetic abnormalities affecting the RB1 gene. Patients with the inherited form appear to be at increased risk for secondary non-ocular malignancies such as osteosarcoma, malignant fibrous histiocytoma, and fibrosarcoma.|NCI|N|
C0751484|A retinoblastoma that occurs in a patient without a family history of the disease.|NCI|N|
C0751489|A Sandhoff disease that occurs in an adult.|MONDO|N|
C0751494|A motor seizure is a type of seizure that is characterized at onset by involvement of the skeletal musculature. The motor event could consist of an increase (positive) or decrease (negative) in muscle contraction to produce a movement.|HPO|N|
C0751495|A focal-onset seizure is a type of seizure originating within networks limited to one hemisphere. They may be discretely localized or more widely distributed, and may originate in subcortical structures.|HPO|N|
C0751498|A carcinoma that arises from the sigmoid colon.|NCI|N|
C0751523|There is inconclusive evidence to precisely define the duration of the seizure; however, based on current evidence an operational threshold of 10 minutes is appropriate as beyond this a seizure is likely to be more prolonged. The individual may or may not be aware or in coma.|HPO|N|
C0751536|Syncope followed by tonic or tonic-clonic movements due to cortical depression and not as a result of a cortical electrical seizure|SNOMEDCT_US|N|
C0751547|An extremely uncommon form of vasculitis. Eleven documented cases have been reported in the literature, affecting older children and young adults. In contrast to the classic form of temporal arteritis, it is not a systemic disease nor does it cause local symptoms at the temporal area.The term juvenile temporal arteritis was coined by Lie and his colleagues, in 1975, when they reported four cases of an otherwise asymptomatic disease presenting with a painless nodule at the temporal region. None of the cases showed evidence of systemic disease or history of trauma to the temporal region. Excisional biopsy of the lesions revealed a non-giant cell granulomatous inflammation of the temporal arteries with eosinophilic infiltration, intimal proliferation and micro aneurysmal disruption of the media. The disease has a benign clinical course, is treated by surgical excision and does not recur.|SNOMEDCT_US|N|
C0751549|Neurogenic thoracic outlet syndrome (NTOS) is a form of thoracic outlet syndrome (TOS; see this term) that presents with pain, paresthesias and weakness in an upper extremity and is divided into true NTOS and disputed NTOS.|ORDO|N|
C0751552|A primary or metastatic malignant neoplasm involving the thymus. This category includes malignant thymomas, thymic lymphomas, primary thymic carcinomas, and metastatic carcinomas from other anatomic sites.|NCI|N|
C0751559|Pulsatile tinnitus is generally classified a kind of objective tinnitus, meaning that it is not only audible to the patient but also to the examiner on auscultation of the auditory canal and/or of surrounding structures with use of an auscultation tube or stethoscope. Usually, pulsatile tinnitus is heard as a lower pitched thumping or booming, a rougher blowing sound which is coincidental with respiration, or as a clicking, higher pitched rhythmic sensation.|HPO|N|
C0751560|A primary or metastatic malignant neoplasm that affects the tonsil.|NCI|N|
C0751564|A type of resting tremor characterized by simultaneous rubbing movements of thumb and index fingers against each other.|HPO|N|
C0751569|A primary or metastatic malignant neoplasm that affects the genitourinary system.|NCI|N|
C0751571|A primary or metastatic malignant neoplasm involving the urinary tract.|NCI|N|
C0751572|Elongation, dilatation, and/or tortuosity of the vertebrobasilar segment. The definition of VBD includes|HPO|N|
C0751574|Decreased strength of the vocal fold on both sides.|HPO|N|
C0751575|A loss of the ability to move the vocal fold on one side.|HPO|N|
C0751576|Decreased strength of the vocal folds.|HPO|N|
C0751577|Decreased strength of the vocal fold on one side.|HPO|N|
C0751583|An acute arboviral infection caused by a virus of the <i>Flaviviridae</i> family transmitted by an infected mosquito, that is asymptomatic in the majority of cases but that can present in rare occasions with mild flulike symptoms such as low-grade fever, arthralgia, myalgia, and/or rash, or with neurologic manifestations including meningitis, encephalitis with mental confusion or disorientation, tremors and acute flaccid paralysis/poliomyelitis.|ORDO|N|
C0751587|CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) is characterized by mid-adult onset of recurrent ischemic stroke, cognitive decline progressing to dementia, a history of migraine with aura, mood disturbance, apathy, and diffuse white matter lesions and subcortical infarcts on neuroimaging.|GeneReviews|N|
C0751588|A neoplasm that arises from above the cerebellar tentorium and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C0751589|A malignant neoplasm that affects the various anatomic sites of the supratentorial brain.|NCI|N|
C0751592|A neoplasm that arises from the infratentorial region and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C0751593|Malignant neoplasms which arise or occur within the intracranial cavity below the tentorium cerebelli. This includes neoplasms within the brain and/or surrounding spaces.|NCI|N|
C0751606|An acute lymphoblastic leukemia occurring during adulthood.|NCI|N|
C0751615|Arachnoid cysts are extraparenchymal, nonneoplastic accumulations of fluid with density similar to that of cerebrospinal fluid. They account for approximately 1% of intracranial space-occupying lesions, although studies since the advent of CT scanning suggest a higher percentage. A striking male preponderance has been observed (summary by Wilson et al., 1988).|OMIM|N|
C0751617|A type of holoprosencephaly in which the left and right frontal and parietal lobes are fused and the interhemispheric fissure is only present posteriorly.|HPO|N|
C0751620|A benign or malignant neoplasm that arises from the brain or the spinal cord.|NCI|N|
C0751623|A primary malignant neoplasm in a patient who has been already diagnosed with a primary malignant neoplasm in another anatomic site.|NCI|N|
C0751651|Diseases caused by abnormal function of the MITOCHONDRIA. They may be caused by mutations, acquired or inherited, in mitochondrial DNA or in nuclear genes that code for mitochondrial components. They may also be the result of acquired mitochondria dysfunction due to adverse effects of drugs, infections, or other environmental causes.|MSH|N|
C0751663|The life expectancy for people with Canavan disease varies. Most people with the neonatal/infantile form live only into childhood, although some survive into adolescence or beyond. People with the mild/juvenile form do not appear to have a shortened lifespan.\n\nThe mild/juvenile form of Canavan disease is less common. Affected individuals have mildly delayed development of speech and motor skills starting in childhood. These delays may be so mild and nonspecific that they are never recognized as being caused by Canavan disease.\n\nNeonatal/infantile Canavan disease is the most common and most severe form of the condition. Affected infants appear normal for the first few months of life, but by age 3 to 5 months, problems with development become noticeable. These infants usually do not develop motor skills such as turning over, controlling head movement, and sitting without support. Other common features of this condition include weak muscle tone (hypotonia), an unusually large head size (macrocephaly), and irritability. Feeding and swallowing difficulties, seizures, and sleep disturbances may also develop.\n\nCanavan disease is a rare inherited disorder that damages the ability of nerve cells (neurons) in the brain to send and receive messages. This disease is one of a group of genetic disorders called leukodystrophies. Leukodystrophies disrupt the growth or maintenance of the myelin sheath, which is the covering that protects nerves and promotes the efficient transmission of nerve impulses.|MedlinePlus Genetics|N|
C0751667|Mild Canavan disease (CD) is a neurodegenerative disorder characterized by mild speech delay or motor development.|ORPHANET|N|
C0751668|Machado-Joseph disease type 1 is a rare, usually severe subtype of Machado-Joseph disease (SCA3/MJD, see this term) characterized by the presence of marked pyramidal and extrapyramidal signs.|ORDO|N|
C0751669|Machado-Joseph disease type 2 is a subtype of Machado-Joseph disease (SCA3/MJD, see this term) with intermediate severity characterized by an intermediate age of onset, cerebellar ataxia and external progressive ophthalmoplegia, with variable pyramidal and extrapyramidal signs.|ORDO|N|
C0751670|Machado-Joseph disease type 3 is a subtype of Machado-Joseph disease (SCA3/MJD, see this term) of milder severity characterized by late onset, slower progression, and peripheral amyotrophy.|ORDO|N|
C0751674|Lymphangioleiomyomatosis (LAM) is a condition that affects the lungs, the kidneys, and the lymphatic system. The lymphatic system consists of a network of vessels that transport lymph fluid and immune cells throughout the body. Lymph fluid helps exchange immune cells, proteins, and other substances between the blood and tissues.\n\nLAM is found almost exclusively in women. It often occurs as a feature of an inherited syndrome called tuberous sclerosis complex. When LAM occurs alone it is called isolated or sporadic LAM.\n\nSigns and symptoms of LAM most often appear during a woman's thirties. Affected women have an overgrowth of abnormal smooth muscle-like cells (LAM cells) in the lungs, resulting in the formation of lung cysts and the destruction of normal lung tissue. They may also have an accumulation of fluid in the cavity around the lungs (chylothorax).\n\nThe lung abnormalities resulting from LAM may cause difficulty breathing (dyspnea), chest pain, and coughing, which may bring up blood (hemoptysis). Many women with this disorder have recurrent episodes of collapsed lung (spontaneous pneumothorax). The lung problems may be progressive and, without lung transplantation, may eventually lead to limitations in activities of daily living, the need for oxygen therapy, and respiratory failure. Although LAM cells are not considered cancerous, they may spread between tissues (metastasize). As a result, the condition may recur even after lung transplantation.\n\nWomen with LAM may develop cysts in the lymphatic vessels of the chest and abdomen. These cysts are called lymphangioleiomyomas. Affected women may also develop tumors called angiomyolipomas made up of LAM cells, fat cells, and blood vessels. Angiomyolipomas usually develop in the kidneys. Internal bleeding is a common complication of angiomyolipomas.|MedlinePlus Genetics|N|
C0751675|A central nervous system embryonal tumor, not otherwise specified arising from the cerebral hemispheres.|NCI|N|
C0751678|A benign neoplasm comprised of neoplastic ganglion and glial cells.|NCI|N|
C0751690|Malignant peripheral nerve sheath tumor (MPNST) is a rare and often aggressive soft tissue sarcoma occurring in a wide range of anatomical sites.|ORDO|N|
C0751691|A rare benign tumor composed entirely of neoplastic perineurial cells. It may occur in the soft tissues, intraneurally or in mucosal sites.|NCI|N|
C0751706|A form of frontotemporal dementia with characteristics of agrammatism, laborious speech, alexia, and agraphia, frequently accompanied by apraxia of speech. Language comprehension is relatively preserved.|SNOMEDCT_US|N|
C0751711|Anterior ischemic optic neuropathy (AION) is an eye disease characterized by infarction of the optic disk leading to vision loss. It can be nonarteritic (nonarteritic anterior ischemic optic neuropathy or NAION) or arteritic, the latter being associated with giant cell arteritis (GCA; often termed temporal arteritis). Vision loss with both varieties is typically rapid (over minutes, hours, or days) and painless. Symptoms such as a general feeling of being unwell (malaise), muscle aches and pains, headaches over the temple, pain when combing hair, pain in the jaw after chewing, and tenderness over the temporal artery (one of the major arteries of the head) may be present with giant cell arteritis. At exam, visual acuity is reduced and the optic disk is swollen. In both subtypes, visual field examination is often reduced in the inferior and central visual fields. The visual loss is usually permanent, with some recovery possibly occurring within the first weeks or months. The arteritic variety is treated with corticosteroids. Treatment of the nonarteritic variety withaspirinor corticosteroids has not been helpful.|MONDO|N|
C0751731|A rare headache resulting from a cerebrospinal fluid (CSF) leak with subsequent lowered CSF pressure, characterized clinically by severe headaches which typically worsen upon standing up and get better when lying down. Additional features may include neck stiffness, nausea, vomiting, vertigo, tinnitus, visual disturbances, and cognitive abnormalities, among others, as sagging and displacement of the brain can lead to a variety of lesions and symptoms.|ORDO|N|
C0751738|A group of enzymatic disorders affecting the nervous system and to a variable degree the skeletal system, lymphoreticular system, and other organs. The conditions are marked by an abnormal accumulation of catabolic material within lysosomes.|MSH|N|
C0751739|A pathological condition caused by impaired blood flow in the basal regions of cerebral hemispheres (basal ganglia), such as infarction; hemorrhage; or ischemia in vessels of this brain region including the lateral lenticulostriate arteries. Primary clinical manifestations include involuntary movements (dyskinesias) and muscle weakness (hemiparesis).|MONDO|N|
C0751741|Intracranial bleeding into the PUTAMEN, a BASAL GANGLIA nucleus. This is associated with HYPERTENSION and lipohyalinosis of small blood vessels in the putamen. Clinical manifestations vary with the size of hemorrhage, but include HEMIPARESIS; HEADACHE; and alterations of consciousness.|MSH|N|
C0751744|Brain dysfunction or damage caused by acquired (i.e., non-inborn) metabolic disorders. Associated conditions include ENDOCRINE DISEASES; WATER-ELECTROLYTE IMBALANCE; KIDNEY DISEASES; LIVER DISEASES; anoxia (HYPOXIA, BRAIN); nutritional disorders (see NUTRITIONAL AND METABOLIC DISEASES); an encephalopathy associated with HEMODIALYSIS; and other disorders. (From Plum & Posner, Diagnosis of Stupor and Coma, 3rd ed, pp208-260)|MSH|N|
C0751746|Disorders characterized by defective transport of amino acids across cell membranes. These include deficits in transport across brush-border epithelial cell membranes of the small intestine (MICROVILLI) and KIDNEY TUBULES; transport across the basolateral membrane; and transport across the membranes of intracellular organelles. (From Nippon Rinsho 1992 Jul;50(7):1587-92)|MSH|N|
C0751748|Nonketotic hyperglycinemia (NKH) is the inborn error of glycine metabolism defined by deficient activity of the glycine cleavage enzyme system (GCS), which results in accumulation of large quantities of glycine in all body tissues including the brain. Based on ultimate outcome NKH is categorized into severe NKH (no developmental progress and intractable epilepsy) and attenuated NKH (variable developmental progress and treatable or no epilepsy). The majority of children with NKH have onset in the neonatal period manifest as progressive lethargy evolving into profound coma and marked hypotonia; 85% have severe NKH and 15% attenuated NKH. Those with onset between two weeks and three months typically present with hypotonia; 50% have severe NKH and 50% attenuated NKH. Those with onset after age three months have attenuated NKH. Severe versus attenuated NKH is consistent within families, but the degree of developmental progress in those with attenuated NKH can vary.|GeneReviews|N|
C0751753|A rare and severe disorder of urea cycle metabolism most commonly characterized by either a neonatal-onset of severe hyperammonemia that occurs few days after birth and manifests with lethargy, vomiting, hypothermia, seizures, coma and death or a presentation outside the newborn period at any age with (sometimes) milder symptoms of hyperammonemia. The disease is due to mutations in the CPS1 gene (2p) that encodes carbamoyl-phosphate synthetase I (CPS1), an enzyme located in the mitochondrial matrix of hepatocytes and epithelial cells of intestinal mucosa that controls the first step of the urea cycle where ammonia is converted into carbamoyl-phosphate. Mutations in this gene lead to an interruption in the urea cycle and excess nitrogen is not converted to urea for excretion by the kidneys, leading to hyperammonemia. Inherited in an autosomal recessive manner.|SNOMEDCT_US|N|
C0751757|A rare neurologic disease characterized by an excessive daytime sleepiness with long and unrefreshing naps, and/or prolonged and undisturbed nocturnal sleep, impaired daytime alertness, and/or sleep inertia (ie, great difficulty in waking up after sleep) and where other causes have been excluded.|ORDO|N|
C0751758|A circadian sleep disorder characterized by bedtime and wake-up time much earlier than normal, although sleep quality is normal.|MONDO|N|
C0751759|A rare neurological disease which is a circadian rhythm sleep disorder characterized by non-synchronization to a 24-hour day leading to insomnia and daytime sleepiness with sometimes severe associated manifestations.|ORDO|N|
C0751771|A sleep disorder characterized by grinding and clenching of the teeth and forceful lateral or protrusive jaw movements. Sleep bruxism may be associated with TOOTH INJURIES; TEMPOROMANDIBULAR JOINT DISORDERS; sleep disturbances; and other conditions.|MSH|N|
C0751772|A disorder characterized by episodes of vigorous and often violent motor activity during rem sleep (sleep, rem). The affected individual may inflict self injury or harm others, and is difficult to awaken from this condition. Episodes are usually followed by a vivid recollection of a dream that is consistent with the aggressive behavior. This condition primarily affects adult males. (From Adams et al., Principles of Neurology, 6th ed, p393)|MONDO|N|
C0751774|Excessive periodic leg movements during sleep that cause micro-arousals and interfere with the maintenance of sleep. This condition induces a state of relative sleep deprivation which manifests as excessive daytime hypersomnolence. The movements are characterized by repetitive contractions of the tibialis anterior muscle, extension of the toe, and intermittent flexion of the hip, knee and ankle. (Adams et al., Principles of Neurology, 6th ed, p387)|MONDO|N|
C0751778|A rare group of disorders characterized by the development of myoclonic and tonic-clonic epileptic seizures associated with progressive degeneration of the nervous system.|NCI|N|
C0751779|The action myoclonus-renal failure syndrome, also known as progressive myclonic epilepsy-4 with or without renal failure (EPM4), is an autosomal recessive progressive myoclonic epilepsy associated with renal failure. Cognitive function is preserved (Badhwar et al., 2004). Some patients do not develop renal failure (Dibbens et al., 2009).
For a discussion of genetic heterogeneity of progressive myoclonic epilepsy, see EPM1A (254800).|OMIM|N|
C0751781|Dentatorubral-pallidoluysian atrophy (DRPLA) is a progressive disorder of ataxia, myoclonus, epilepsy, and progressive intellectual deterioration in children and ataxia, choreoathetosis, and dementia or character changes in adults. Onset ranges from before age one year to age 72 years; mean age of onset is 31.5 years. The clinical presentation varies depending on the age of onset. The cardinal features in adults are ataxia, choreoathetosis, and dementia. Cardinal features in children are progressive intellectual deterioration, behavioral changes, myoclonus, and epilepsy.|GeneReviews|N|
C0751783|Progressive myoclonus epilepsy, Lafora type (also known as Lafora disease [LD]) is characterized by focal occipital seizures presenting as transient blindness or visual hallucinations and fragmentary, symmetric, or generalized myoclonus beginning in previously healthy individuals at age eight to 19 years (peak 14-16 years). Generalized tonic-clonic seizures, atypical absence seizures, atonic seizures, and focal seizures with impaired awareness may occur. The course of the disease is characterized by increasing frequency and intractability of seizures. Status epilepticus with any of the seizure types is common. Cognitive decline becomes apparent at or soon after the onset of seizures. Dysarthria and ataxia appear early while spasticity appears late. Emotional disturbance and confusion are common in the early stages of the disease and are followed by dementia. Most affected individuals die within ten years of onset, usually from status epilepticus or from complications related to nervous system degeneration.|GeneReviews|N|
C0751785|Progressive myoclonic epilepsy type 1(EPM1) is a neurodegenerative disorder characterized by onset from age six to 15 years, stimulus-sensitive myoclonus, and tonic-clonic epileptic seizures. Some years after the onset, ataxia, incoordination, intentional tremor, and dysarthria develop. Individuals with EPM1 are cognitively mostly within the normal range, but show emotional lability and depression. The epileptic seizures are usually well controlled by anti-seizure medication, but the myoclonic jerks are progressive, action activated, and treatment resistant, and can be severely disabling.|GeneReviews|N|
C0751791|A rare neurologic disease with characteristics of seizures that are triggered by acoustic stimulation, which can be simple (as in startle epilepsy) or complex (for example musicogenic seizures, seizures triggered by the voice).|SNOMEDCT_US|N|
C0751803|Bleeding into structures of BRAIN STEM, including the MIDBRAIN; PONS; or MEDULLA OBLONGATA, as the result of CRANIOCEREBRAL TRAUMA. DIFFUSE AXONAL INJURY is commonly associated. Clinical manifestations may include OCULAR MOTILITY DISORDERS; ATAXIA; PARALYSIS; PERSISTENT VEGETATIVE STATE; and COMA.|MSH|N|
C0751815|A separation (dissection) of the layers of the internal carotid artery wall.|HPO|N|
C0751816|An acquired abnormality resulting from leaked blood from damaged CAROTID ARTERIES, often due to TRAUMA or INFECTION. The leaked blood is contained in the surrounding tissues and forms a pulsatile neck mass.|MSH|N|
C0751830|Gait abnormalities that are a manifestation of nervous system dysfunction. These conditions may be caused by a wide variety of disorders which affect motor control, sensory feedback, and muscle strength including: CENTRAL NERVOUS SYSTEM DISEASES; PERIPHERAL NERVOUS SYSTEM DISEASES; NEUROMUSCULAR DISEASES; or MUSCULAR DISEASES.|MSH|N|
C0751837|A type of ataxia characterized by the impairment of the ability to coordinate the movements required for normal walking. Gait ataxia is characteirzed by a wide-based staggering gait with a tendency to fall.|HPO|N|
C0751840|Loss of the power to comprehend written materials despite preservation of the ability to write (i.e., alexia without agraphia). This condition is generally attributed to lesions that 'disconnect' the visual cortex of the non-dominant hemisphere from language centers in the dominant hemisphere. This may occur when a dominant visual cortex injury is combined with underlying white matter lesions that involve crossing fibers from the occipital lobe of the opposite hemisphere. (From Adams et al., Principles of Neurology, 6th ed, p483)|MONDO|N|
C0751843|Necrosis occurring in the anterior cerebral artery system, including branches such as Heubner's artery. These arteries supply blood to the medial and superior parts of the cerebral hemisphere, Infarction in the anterior cerebral artery usually results in sensory and motor impairment in the lower body.|MONDO|N|
C0751865|Acute and chronic neurologic disorders associated with the various neurologic effects of ETHANOL. Primary sites of injury include the brain and peripheral nerves.|MSH|N|
C0751870|Inherited disorders characterized by progressive atrophy and dysfunction of anatomically or physiologically related neurologic systems.|MSH|N|
C0751871|A disorder characterized by the degeneration of the nervous system due to autoimmunity. Representative examples include multiple sclerosis, Guillain-Barre syndrome, and myasthenia gravis.|NCI|N|
C0751873|Conditions characterized by loss or dysfunction of myelin (see myelin sheath) in the brain, spinal cord, or optic nerves secondary to autoimmune mediated processes. This may take the form of a humoral or cellular immune response directed toward myelin or oligodendroglia associated autoantigens.|MONDO|N|
C0751877|Inherited conditions characterized by a loss of MYELIN in the central nervous system.|MSH|N|
C0751878|Vasculitis affecting the blood vessels of the brain and/or spinal cord.|NCI|N|
C0751882|Some individuals have episodes of breathing problems that may be triggered by fevers or infection. Severely affected individuals may also experience short pauses in breathing (apnea) that can lead to a bluish appearance of the skin or lips (cyanosis).\n\nCongenital myasthenic syndrome is a group of conditions characterized by muscle weakness (myasthenia) that worsens with physical exertion. The muscle weakness typically begins in early childhood but can also appear in adolescence or adulthood. Facial muscles, including muscles that control the eyelids, muscles that move the eyes, and muscles used for chewing and swallowing, are most commonly affected. However, any of the muscles used for movement (skeletal muscles) can be affected in this condition. Due to muscle weakness, affected infants may have feeding difficulties. Development of motor skills such as crawling or walking may be delayed. The severity of the myasthenia varies greatly, with some people experiencing minor weakness and others having such severe weakness that they are unable to walk.|MedlinePlus Genetics|N|
C0751886|A neoplasm that originates from the brain stem.|NCI|N|
C0751891|Bleeding within the SKULL that is caused by systemic HYPERTENSION, usually in association with INTRACRANIAL ARTERIOSCLEROSIS. Hypertensive hemorrhages are most frequent in the BASAL GANGLIA; CEREBELLUM; PONS; and THALAMUS; but may also involve the CEREBRAL CORTEX, subcortical white matter, and other brain structures.|MSH|N|
C0751895|Constriction of arteries in the skull due to sudden, sharp, and often persistent smooth muscle contraction in blood vessels. Intracranial vasospasm results in reduced vessel lumen caliber, restricted blood flow to the brain, and brain ischemia that may lead to hypoxic-ischemic brain injury (hypoxia-ischemia, brain).|MONDO|N|
C0751900|Movement-based tics affecting discrete muscle groups.|HPO|N|
C0751901|Tics are defined as movements or sounds that resemble physiological motor behaviors, but are typically inopportune to social context and appear sudden, repetitive, and often exaggerated. Tic vocalizations commonly termed vocal or phonic tics may include any possible sound (eg, sniffing, coughing, throat clearing, whistling, or grunting), word, or sentence and are most commonly encountered within the spectrum of primary tic disorders, as Tourette syndrome.|HPO|N|
C0751908|Idiopathic inflammation of the vestibular nerve, characterized clinically by the acute or subacute onset of vertigo; nausea; and imbalance. The cochlear nerve is typically spared and hearing loss and tinnitus do not usually occur. Symptoms usually resolve over a period of days to weeks. (Adams et al., Principles of Neurology, 6th ed, p304)|MONDO|N|
C0751911|Paraneoplastic neurological syndromes (PNS) can be defined as remote effects of cancer that are not caused by the tumor and its metastasis, or by infection, ischemia or metabolic disruptions.|ORDO|N|
C0751916|The classic form of Pelizaeus-Merzbacher disease (PMD) is the infantile form of PMD.|ORDO|N|
C0751917|The transitional form of Pelizaeus-Merzbacher disease (PMD) is the intermediate form of PMD (see this term).|ORDO|N|
C0751922|Disease involving the median nerve, from its origin at the brachial plexus to its termination in the hand. Clinical features include weakness of wrist and finger flexion, forearm pronation, thenar abduction, and loss of sensation over the lateral palm, first three fingers, and radial half of the ring finger. Common sites of injury include the elbow, where the nerve passes through the two heads of the pronator teres muscle (pronator syndrome) and in the carpal tunnel (carpal tunnel syndrome).|MONDO|N|
C0751931|Neuropathy of the femoral nerve.|NCI|N|
C0751932|Disease of the tibial nerve (also referred to as the posterior tibial nerve). The most commonly associated condition is the tarsal tunnel syndrome. However, leg injuries; ischemia; and inflammatory conditions (e.g., collagen diseases) may also affect the nerve. Clinical features include paralysis of plantar flexion, ankle inversion and toe flexion as well as loss of sensation over the sole of the foot. (From Joynt, Clinical Neurology, 1995, Ch51, p32)|MONDO|N|
C0751937|A non-neoplastic or neoplastic disorder affecting the olfactory nerve (first cranial nerve).|NCI|N|
C0751941|A non-neoplastic or neoplastic disorder affecting the glossopharyngeal nerve (ninth cranial nerve).|NCI|N|
C0751942|Diseases of the ninth cranial (glossopharyngeal) nerve or its nuclei in the medulla. The nerve may be injured by diseases affecting the lower brain stem, floor of the posterior fossa, jugular foramen, or the nerve's extracranial course. Clinical manifestations include loss of sensation from the pharynx, decreased salivation, and syncope. Glossopharyngeal neuralgia refers to a condition that features recurrent unilateral sharp pain in the tongue, angle of the jaw, external auditory meatus and throat that may be associated with syncope. Episodes may be triggered by cough, sneeze, swallowing, or pressure on the tragus of the ear. (Adams et al., Principles of Neurology, 6th ed, p1390)|MONDO|N|
C0751950|Conditions characterized by impaired transmission of impulses at the neuromuscular junction. This may result from disorders that affect receptor function, pre- or postsynaptic membrane function, or acetylcholinesterase activity. The majority of diseases in this category are associated with autoimmune, toxic, or inherited conditions.|MONDO|N|
C0751951|Congenital myopathy-1A (CMYP1A) with susceptibility to malignant hyperthermia is an autosomal dominant disorder of skeletal muscle characterized by muscle weakness primarily affecting the proximal muscles of the lower limbs beginning in infancy or early childhood, although later onset of symptoms has been reported. There is significant phenotypic variability, even within families, and the wide clinical diversity most likely depends on the severity of the RYR1 mutation. The disorder is static or slowly progressive; affected individuals typically show delayed motor development and usually achieve independent walking, although many have difficulty running or climbing stairs. Additional features often include mild facial weakness, joint laxity, shoulder girdle weakness, and skeletal manifestations, such as dislocation of the hips, foot deformities, scoliosis, and Achilles tendon contractures. Some patients present with orthopedic deformities. Serum creatine kinase is usually not elevated. Respiratory involvement is rare and there is no central nervous system or cardiac involvement. Patients with dominant mutations in the RYR1 gene are at risk for malignant hyperthermia and both disorders may segregate in the same family. Historically, patients with congenital myopathy due to RYR1 mutations were diagnosed based on the finding of pathologic central cores (central core disease; CCD) on muscle biopsy, which represent areas that lack oxidative enzymes and mitochondrial activity in type 1 muscle fibers. However, additional pathologic findings may also be observed, including cores and rods, central nuclei, fiber type disproportion, multiminicores, and uniform type 1 fibers. These histopathologic features are not always specific to RYR1 myopathy and often change over time (Quinlivan et al., 2003; Jungbluth et al., 2007; Klein et al., 2012; Ogasawara and Nishino, 2021). Some patients with RYR1 mutations have pathologic findings on muscle biopsy, but are clinically asymptomatic (Shuaib et al., 1987; Quane et al., 1993).
Rare patients with a more severe phenotype have been found to carry a heterozygous mutation in the RYR1 gene inherited from an unaffected parent. However, in these cases, there is a possibility of recessive inheritance (CMYP1B; 255320) with either a missed second RYR1 mutation in trans or a genomic rearrangement on the other allele that is undetectable on routine genomic sequencing, since the RYR1 gene is very large and genetic analysis may be difficult (Klein et al., 2012).
Genetic Heterogeneity of Congenital Myopathy
See also CMYP1B (255320), caused by mutation in the RYR1 gene (180901) on chromosome 19q13; CMYP2A (161800), CMYP2B (620265), and CMYP2C (620278), caused by mutation in the ACTA1 gene (102610) on chromosome 1q42; CMYP3 (602771), caused by mutation in the SELENON gene (606210) on chromosome 1p36; CMYP4A (255310) and CMYP4B (609284), caused by mutation in the TPM3 gene (191030) on chromosome 1q21; CMYP5 (611705), caused by mutation in the TTN gene (188840) on chromosome 2q31; CMYP6 (605637), caused by mutation in the MYH2 gene (160740) on chromosome 17p13; CMYP7A (608358) and CMYP7B (255160), caused by mutation in the MYH7 gene (160760) on chromosome 14q11; CMYP8 (618654), caused by mutation in the ACTN2 gene (102573) on chromosome 1q43; CMYP9A (618822) and CMYP9B (618823), caused by mutation in the FXR1 gene (600819) on chromosome 3q28; CMYP10A (614399) and CMYP10B (620249), caused by mutation in the MEGF10 gene (612453) on chromosome 5q23; CMYP11 (619967), caused by mutation in the HACD1 gene (610467) on chromosome 10p12; CMYP12 (612540), caused by mutation in the CNTN1 gene (600016) on chromosome 12q12; CMYP13 (255995), caused by mutation in the STAC3 gene (615521) on chromosome 12q13; CMYP14 (618414), caused by mutation in the MYL1 gene (160780) on chromosome 2q34; CMYP15 (620161), caused by mutation in the TNNC2 gene (191039) on chromosome 20q13; CMYP16 (618524), caused by mutation in the MYBPC1 gene (160794) on chromosome 12q23; CMYP17 (618975), caused by mutation in the MYOD1 gene (159970) on chromosome 11p15; CMYP18 (620246), caused by mutation in the CACNA1S gene (114208) on chromosome 1q32; CMYP19 (618578), caused by mutation in the PAX7 gene (167410) on chromosome 1p36; CMYP20 (620310), caused by mutation in the RYR3 gene (180903) on chromosome 15q13; CMYP21 (620326), caused by mutation in the DNAJB4 gene (611327) on chromosome 1p31; CMYP22A (620351) and CMYP22B (620369), both caused by mutation in the SCN4A gene (603967) on chromosome 17q23; CMYP23 (609285), caused by mutation in the TPM2 gene (190990) on chromosome 9p13; and CMYP24 (617336), caused by mutation in the MYPN gene (608517) on chromosome 10q21.|OMIM|N|
C0751955|Tissue necrosis in any area of the brain, including the cerebral hemispheres, the cerebellum, and the brain stem. Brain infarction is the result of a cascade of events initiated by inadequate blood flow through the brain that is followed by hypoxia and hypoglycemia in brain tissue. Damage may be temporary, permanent, selective or pan-necrosis.|MONDO|N|
C0751956|The sudden or severe onset of neurological deficit(s) attributable to an acute focal vascular injury of the central nervous system.|NCI|N|
C0751964|A multiple sclerosis that is characterized by steady worsening of neurologic functioning, without any distinct relapses or periods of remission. The rate of progression may vary over time, with occasional plateaus or temporary improvements, but the progression is continuous.|MONDO|N|
C0751965|A multiple sclerosis with a clinical course characterized by a progressive accumulation of neurological disability, independent of relapses, following an initial relapsing-remitting (RR) phase.|MONDO|N|
C0751967|A type of multiple sclerosis characterized by intermittent flare-ups with a return to few or no symptoms.|NCI|N|
C0752109|Brain disorders resulting from inborn metabolic errors, primarily from enzymatic defects which lead to substrate accumulation, product reduction, or increase in toxic metabolites through alternate pathways. The majority of these conditions are familial, however spontaneous mutation may also occur in utero.|MSH|N|
C0752120|Spinocerebellar ataxia type 1 (SCA1) is characterized by progressive cerebellar ataxia, dysarthria, and eventual deterioration of bulbar functions. Early in the disease, affected individuals may have gait disturbance, slurred speech, difficulty with balance, brisk deep tendon reflexes, hypermetric saccades, nystagmus, and mild dysphagia. Later signs include slowing of saccadic velocity, development of up-gaze palsy, dysmetria, dysdiadochokinesia, and hypotonia. In advanced stages, muscle atrophy, decreased deep tendon reflexes, loss of proprioception, cognitive impairment (e.g., frontal executive dysfunction, impaired verbal memory), chorea, dystonia, and bulbar dysfunction are seen. Onset is typically in the third or fourth decade, although childhood onset and late-adult onset have been reported. Those with onset after age 60 years may manifest a pure cerebellar phenotype. Interval from onset to death varies from ten to 30 years; individuals with juvenile onset show more rapid progression and more severe disease. Anticipation is observed. An axonal sensory neuropathy detected by electrophysiologic testing is common; brain imaging typically shows cerebellar and brain stem atrophy.|GeneReviews|N|
C0752121|Spinocerebellar ataxia type 2 (SCA2) is characterized by progressive cerebellar ataxia, including nystagmus, slow saccadic eye movements, and in some individuals, ophthalmoparesis or parkinsonism. Pyramidal findings are present; deep tendon reflexes are brisk early on and absent later in the course. Age of onset is typically in the fourth decade with a ten- to 15-year disease duration.|GeneReviews|N|
C0752122|Spinocerebellar ataxia-4 (SCA4) is an autosomal dominant neurologic disorder characterized by the onset of balance disturbances and gait and limb ataxia usually in the fourth decade, although earlier onset in the teens or twenties has been reported. There is evidence of genetic anticipation within families. The disorder is slowly progressive, and most patients eventually become wheelchair-bound. Additional features include hypometric or slow saccades, sensory or sensorimotor axonal peripheral neuropathy, dysarthria, and autonomic dysfunction, including orthostatic hypotension and problems with bowel or bladder control. More severely affected individuals have dysphagia and significant unintended weight loss, which may contribute to premature death. Brain imaging shows cerebellar atrophy (Wallenius et al., 2024).
For a discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (164400).|OMIM|N|
C0752123|For a general discussion of autosomal dominant spinocerebellar ataxia (SCA), see SCA1 (164400).|OMIM|N|
C0752124|Spinocerebellar ataxia type 6 (SCA6) is characterized by adult-onset, slowly progressive cerebellar ataxia, dysarthria, and nystagmus. The age of onset ranges from 19 to 73 years; mean age of onset is between 43 and 52 years. Initial symptoms are gait unsteadiness, stumbling, and imbalance (in ~90%) and dysarthria (in ~10%). Eventually all persons have gait ataxia, upper-limb incoordination, intention tremor, and dysarthria. Dysphagia and choking are common. Visual disturbances may result from diplopia, difficulty fixating on moving objects, horizontal gaze-evoked nystagmus, and vertical nystagmus. Hyperreflexia and extensor plantar responses occur in up to 40%-50%. Basal ganglia signs, including dystonia and blepharospasm, occur in up to 25%. Mentation is generally preserved.|GeneReviews|N|
C0752125|Spinocerebellar ataxia type 7 (SCA7) comprises a phenotypic spectrum ranging from adolescent- or adult-onset progressive cerebellar ataxia and cone-rod retinal dystrophy to infantile or early-childhood onset with multiorgan failure, an accelerated course, and early death. Anticipation in this nucleotide repeat disorder may be so dramatic that within a family a child with infantile or early-childhood onset may be diagnosed with what is thought to be an unrelated neurodegenerative disorder years before a parent or grandparent with a CAG repeat expansion becomes symptomatic. In adolescent-onset SCA7, the initial manifestation is typically impaired vision, followed by cerebellar ataxia. In those with adult onset, progressive cerebellar ataxia usually precedes the onset of visual manifestations. While the rate of progression varies in these two age groups, the eventual result for almost all affected individuals is loss of vision, severe dysarthria and dysphagia, and a bedridden state with loss of motor control.|GeneReviews|N|
C0752127|Pathological processes involving any of the BLOOD VESSELS feeding the SPINAL CORD, such as the anterior and paired posterior spinal arteries or their many branches. Disease processes may include ATHEROSCLEROSIS; EMBOLISM; and ARTERIOVENOUS MALFORMATIONS leading to ISCHEMIA or HEMORRHAGE into the spinal cord (hematomyelia).|MSH|N|
C0752130|Reduced blood flow to the spinal cord which is supplied by the anterior spinal artery and the paired posterior spinal arteries. This condition may be associated with arteriosclerosis, trauma, emboli, diseases of the aorta, and other disorders. Prolonged ischemia may lead to infarction of spinal cord tissue.|MONDO|N|
C0752132|Necrosis induced by ischemia in the posterior cerebral artery distribution system which supplies portions of the brain stem; the thalamus; temporal lobe, and occipital lobe. Depending on the size and location of infarction, clinical features include olfaction disorders and visual problems (agnosia; alexia; hemianopsia).|MONDO|N|
C0752135|An abnormal structural condition of the human body, usually macroscopic, that is common to a variety of different diseases.|MSH|N|
C0752138|Pathological conditions involving arteries in the skull, such as arteries supplying the cerebrum, the cerebellum, the brain stem, and associated structures. They include atherosclerotic, congenital, traumatic, infectious, inflammatory, and other pathological processes.|MONDO|N|
C0752140|Blocking of a blood vessel in the skull by an embolus which can be a blood clot (thrombus) or other undissolved material in the blood stream. Most emboli are of cardiac origin and are associated with heart diseases. Other non-cardiac sources of emboli are usually associated with vascular diseases.|MONDO|N|
C0752143|Formation or presence of a blood clot (thrombus) in a blood vessel within the skull. Intracranial thrombosis can lead to thrombotic occlusions and brain infarction. The majority of the thrombotic occlusions are associated with atherosclerosis.|MONDO|N|
C0752150|A headache disorder that occurs exclusively at night, waking the affected individual from sleep.|HPO|N|
C0752155|A congenital abnormality of the arteries and veins that is located in the brain or spina cord, and which may increase the risk of bleeding, possibly resulting in impaired mental or physical function.|NCI|N|
C0752156|Formed by an abnormal connection between arteries within the dura mater and veins that normally drain the brain.|SNOMEDCT_US|N|
C0752160|A cavernous hemangioma arising from the central nervous system.|NCI|N|
C0752165|A vascular anomaly characterized by a radial or wedge-shaped arrangement of dilated VEINS draining into a larger vein in the brain, spinal cord, or the meninges. Veins in a venous angioma are surrounded by normal nervous tissue, unlike a CENTRAL NERVOUS SYSTEM CAVERNOUS HEMANGIOMA that lacks intervening nervous tissue. Drainage of venous angioma is fully integrated with the body''s venous system, therefore, in most cases there is no clinical signs and rare bleeding.|MSH|N|
C0752166|Bardet-Biedl syndrome is a disorder that affects many parts of the body. The signs and symptoms of this condition vary among affected individuals, even among members of the same family.\n\nVision loss is one of the major features of Bardet-Biedl syndrome. Loss of vision occurs as the light-sensing tissue at the back of the eye (the retina) gradually deteriorates. Problems with night vision become apparent by mid-childhood, followed by blind spots that develop in the side (peripheral) vision. Over time, these blind spots enlarge and merge to produce tunnel vision. Most people with Bardet-Biedl syndrome also develop blurred central vision (poor visual acuity) and become legally blind by adolescence or early adulthood.\n\nObesity is another characteristic feature of Bardet-Biedl syndrome. Abnormal weight gain typically begins in early childhood and continues to be an issue throughout life. Complications of obesity can include type 2 diabetes, high blood pressure (hypertension), and abnormally high cholesterol levels (hypercholesterolemia).\n\nOther major signs and symptoms of Bardet-Biedl syndrome include the presence of extra fingers or toes (polydactyly), intellectual disability or learning problems, and abnormalities of the genitalia. Most affected males produce reduced amounts of sex hormones (hypogonadism), and they are usually unable to father biological children (infertile). Many people with Bardet-Biedl syndrome also have kidney abnormalities, which can be serious or life-threatening.\n\nAdditional features of Bardet-Biedl syndrome can include impaired speech, delayed development of motor skills such as standing and walking, behavioral problems such as emotional immaturity and inappropriate outbursts, and clumsiness or poor coordination. Distinctive facial features, dental abnormalities, unusually short or fused fingers or toes, and a partial or complete loss of the sense of smell (anosmia) have also been reported in some people with Bardet-Biedl syndrome. Additionally, this condition can affect the heart, liver, and digestive system.|MedlinePlus Genetics|N|
C0752168|The presence of calculi in a salivary duct or gland.|MSH|N|
C0752180|Bacterial infections of the brain, spinal cord, and meninges, including infections involving the perimeningeal spaces.|MSH|N|
C0752181|Infections of the brain, spinal cord, and meninges caused by parasites.|MSH|N|
C0752182|Infections of the brain, spinal cord, or meninges by single celled organisms of the former subkingdom known as protozoa. The central nervous system may be the primary or secondary site of protozoal infection. These diseases may occur as OPPORTUNISTIC INFECTIONS or arise in immunocompetent hosts.|MSH|N|
C0752185|Infections of the BRAIN; SPINAL CORD; or MENINGES caused by HELMINTHS (parasitic worms).|MSH|N|
C0752191|Schistosomiasis of the brain, spinal cord, or meninges caused by infections with trematodes of the genus schistosoma (primarily schistosoma japonicum; schistosoma mansoni; and schistosoma haematobium in humans). S. japonicum infections of the nervous system may cause an acute meningoencephalitis or a chronic encephalopathy. S. mansoni and S. haematobium nervous system infections are associated with acute transverse myelitis involving the lower portions of the spinal cord. (From Joynt, Clinical Neurology, 1998, Ch27, pp61-2)|MONDO|N|
C0752195|Infectious processes, including abscesses, effusions, and empyemas which occur in the epidural or subdural spaces surrounding the brain and spinal cord.|MSH|N|
C0752208|A rare neurologic disease with the manifestation of an underlying psychiatric illness that cannot be attributed to any known structural or neurochemical disease. The disease presents typically during adolescence or adulthood. Symptoms may include one or several types of abnormal movements seen in organic movement disorders (tremor, dystonia, chorea, bradykinesia, myoclonus, tics, athetosis, ballism, cerebellar incoordination) and also affect speech and gait. Underlying causes fall into three categories: Conversion disorder, somatic symptom disorders or in rare cases factitious disorder.|SNOMEDCT_US|N|
C0752210|Episodic bouts of involuntary movements with dystonic, choreic, ballistic movements, or a combination thereof. There is no loss of consciousness during the attacks.|HPO|N|
C0752235|Nervous system infections caused by tick-borne spirochetes of the BORRELIA BURGDORFERI GROUP. The disease may affect elements of the central or peripheral nervous system in isolation or in combination. Common clinical manifestations include a lymphocytic meningitis, cranial neuropathy (most often a facial neuropathy), POLYRADICULOPATHY, and a mild loss of memory and other cognitive functions. Less often more extensive inflammation involving the central nervous system (encephalomyelitis) may occur. In the peripheral nervous system, B. burgdorferi infection is associated with mononeuritis multiplex and polyradiculoneuritis. (From J Neurol Sci 1998 Jan 8;153(2):182-91)|MSH|N|
C0752244|Rathke''s pouch cysts are rarely symptomatic in the first two decades of life though they may produce symptoms in the third and fourth decades of life. When the cysts do present in the first decades of life, the symptoms are generally associated with diabetes insipidus or other conditions related to hypopituitarism.|NCI|N|
C0752252|Signs and symptoms associated with diseases of the muscle, neuromuscular junction, or peripheral nerves.|MSH|N|
C0752262|Disorders of sensory information received from superficial and deep regions of the body. The somatosensory system conveys neural impulses which pertain to proprioception, tactile sensation, thermal sensation, pressure sensation, and pain. PERIPHERAL NERVOUS SYSTEM DISEASES; SPINAL CORD DISEASES; and BRAIN DISEASES may be associated with impaired or abnormal somatic sensation.|MSH|N|
C0752282|A group of rare genetic muscle disorders characterized by hypotonia, muscle weakness, and delayed development of motor skills.|NCI|N|
C0752287|Dyssomnias (i.e., insomnias or hypersomnias) associated with dysfunction of internal sleep mechanisms or secondary to a sleep-related medical disorder (e.g., sleep apnea, post-traumatic sleep disorders, etc.). (From Thorpy, Sleep Disorders Medicine, 1994, p187)|MSH|N|
C0752294|Sleep disorders characterized by impaired arousal from the deeper stages of sleep (generally stage III or IV sleep).|MSH|N|
C0752295|A nocturnal episode is characterized by disorientation, grogginess, and, at times, significant agitation upon awakening from slow-wave sleep or following forced awakenings.|HPO|N|
C0752299|Parasomnias characterized by behavioral abnormalities that occur during the transition between wakefulness and sleep (or between sleep and wakefulness).|MSH|N|
C0752301|Abnormal behavioral or physiologic events that are associated with REM sleep, including REM SLEEP BEHAVIOR DISORDER.|MSH|N|
C0752303|Clinical disturbances of the urinary system.|MSH|N|
C0752304|Ischemic brain damage in which the entire brain is deprived of oxygen. It may be fatal or lead to long term disabilities including developmental delays, intellectual disability, and seizures.|NCI|N|
C0752308|A disorder characterized by a reduction of oxygen in the blood combined with reduced blood flow (ischemia) to the brain from a localized obstruction of a cerebral artery or from systemic hypoperfusion. Prolonged hypoxia-ischemia is associated with ischemic attack, transient; brain infarction; brain edema; coma; and other conditions.|MONDO|N|
C0752319|An intracellular protein kinase cascade containing at least a MAPK, a MAPKK and a MAP3K. The cascade can also contain an additional tiers: the upstream MAP4K. The kinases in each tier phosphorylate and activate the kinase in the downstream tier to transmit a signal within a cell. [GOC:bf, GOC:mtg_signaling_feb11, PMID:20811974, PMID:9561267]|GO|N|
C0752321|An intracellular signaling system involving the mitogen-activated protein kinase cascades (three-membered protein kinase cascades). Various upstream activators, which act in response to extracellular stimuli, trigger the cascades by activating the first member of a cascade, MAP KINASE KINASE KINASES; (MAPKKKs). Activated MAPKKKs phosphorylate MITOGEN-ACTIVATED PROTEIN KINASE KINASES which in turn phosphorylate the MITOGEN-ACTIVATED PROTEIN KINASES; (MAPKs). The MAPKs then act on various downstream targets to affect gene expression. In mammals, there are several distinct MAP kinase pathways including the ERK (extracellular signal-regulated kinase) pathway, the SAPK/JNK (stress-activated protein kinase/c-jun kinase) pathway, and the p38 kinase pathway. There is some sharing of components among the pathways depending on which stimulus originates activation of the cascade.|MSH|N|
C0752322|A disorder characterized by recurrent focal onset seizures which have sensory (i.e., olfactory, visual, tactile, gustatory, or auditory) manifestations. Partial seizures that feature alterations of consciousness are referred to as complex partial seizures (EPILEPSY, COMPLEX PARTIAL).|MSH|N|
C0752323|A focal clonic seizure is a type of focal motor seizure characterized by sustained rhythmic jerking, that is regularly repetitive.|HPO|N|
C0752324|A type of focal motor seizure characterized by sustained increase in muscle contraction, lasting a few seconds to minutes.|HPO|N|
C0752330|Inflammation of arteries in the central nervous system that occurs in patients with acquired immunodeficiency syndrome or aids-related opportunistic infections.|MONDO|N|
C0752332|Inflammation that includes the brain, spinal cord and surrounding tissues secondary to systemic lupus erythematosus (SLE); it is associated with neurological and/or psychiatric features.|NCI|N|
C0752342|Infections of the nervous system caused by fungi of the genus aspergillus, most commonly aspergillus fumigatus. Aspergillus infections may occur in immunocompetent hosts, but are more prevalent in individuals with immunologic deficiency syndromes. The organism may spread to the nervous system from focal infections in the lung, mastoid region, sinuses, inner ear, bones, eyes, gastrointestinal tract, and heart. Sinus infections may be locally invasive and enter the intracranial compartment, producing meningitis, fungal; cranial neuropathies; and abscesses in the frontal lobes of the brain. (From Joynt, Clinical Neurology, 1998, Ch 27, pp62-3)|MONDO|N|
C0752347|Dementia with Lewy bodies (DLB) is a neurodegenerative disorder clinically characterized by dementia and parkinsonism, often with fluctuating cognitive function, visual hallucinations, falls, syncopal episodes, and sensitivity to neuroleptic medication. Pathologically, Lewy bodies are present in a pattern more widespread than usually observed in Parkinson disease (see PD; 168600). Alzheimer disease (AD; 104300)-associated pathology and spongiform changes may also be seen (McKeith et al., 1996; Mizutani, 2000; McKeith et al., 2005).|OMIM|N|
C0752351|Early pregnancy loss during the EMBRYO, MAMMALIAN stage of development. In the human, this period comprises the second through eighth week after fertilization.|MSH|N|
C0752352|A group of primary or secondary disorders affecting the muscles. It is characterized by an abnormal reduction in the muscle volume and atrophy. The atrophy may be caused by diseases of the muscle tissues or diseases of the peripheral nerves.|NCI|N|
C0752355|A form of potassium-aggravated myotonia which is cold insensitive, dramatically fluctuating and profoundly worsened by potassium ingestion. Fluctuating myotonia develops during childhood or adolescence and involves the extraocular, bulbar and limb muscles. Myotonia fluctuans is a sodium muscle channelopathy due to missense mutations of the SCN4A gene encoding the alpha subunit of the skeletal muscle voltage-gated sodium channel Nav1.4. Transmission is autosomal dominant.|SNOMEDCT_US|N|
C0752357|Clinical characteristics of disease or illness.|MSH|N|
C0795690|An omphalocele is an abdominal wall defect limited to an open umbilical ring, and is characterized by the herniation of membrane-covered internal organs into the open base of the umbilical cord. Omphalocele is distinguished from gastroschisis (230750), in which the abdominal wall defect is located laterally to a normally closed umbilical ring with herniation of organs that are uncovered by membranes (summary by Bugge, 2010). On the basis of clinical manifestations, epidemiologic characteristics, and the presence of additional malformations, Yang et al. (1992) concluded that omphalocele and gastroschisis are casually and pathogenetically distinct abdominal wall defects.
Omphalocele can be a feature of genetic disorders, such as  Beckwith-Wiedemann syndrome (130650) and the Shprintzen-Goldberg syndrome (182210).|OMIM|N|
C0795692|Increase in blood LACTATE concentration often associated with SEPTIC SHOCK; LUNG INJURY; SEPSIS; and DRUG TOXICITY. When hyperlactatemia is associated with low body pH (acidosis) it is LACTIC ACIDOSIS.|MSH|N|
C0795796|Chromosome 1p deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the short arm (p) of chromosome 1. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 1p deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.|MONDO|N|
C0795801|A chromosomal abnormality consisting of the presence of a third copy of chromosome 2 in somatic cells.|NCI|N|
C0795803|Chromosome 2p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 2. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 2p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person.|MONDO|N|
C0795804|Chromosome 2q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 2. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 2q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.|MONDO|N|
C0795805|Chromosome 2q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 2. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 2q duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person.|MONDO|N|
C0795806|Deletion of the short arm of chromosome 3 with variable anomalies which include growth failure, psychomotor retardation, craniofacial deformities with unusual facies, postaxial polydactyly, musculoskeletal defects, and other malformations.|JABL|N|
C0795807|Duplication of the short arm of chromosome 3 with severe delay in mental development, craniofacial dysmorphism, urogenital maldevelopment, and various occasional anomalies, including cardiac defects, cleft lip and palate, holoprosencephaly, dermatoglyphic findings, and other malformations.|JABL|N|
C0795809|Chromosome 3q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on thelong arm (q) of chromosome 3. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 3q duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Chromosome 3q duplication can be de novo or inherited from a parent with a chromosomal rearrangement such as a balanced translocation. Treatment is based on the signs and symptoms present in each person.|MONDO|N|
C0795812|Chromosome 4q duplication is a chromosome abnormality characterized by an extra copy (duplication) of genetic material on the long arm (q) of chromosome 4. The severity and specific symptoms depend on the size and location of the duplication, and which genes are involved. Features that have been described in some people with chromosome 4q duplication include developmental delay, intellectual disability, behavioral problems, birth defects, and distinctive facial features. Most cases are inherited from an unaffected parent with a chromosomal rearrangement called a balanced translocation. Some cases are not inherited and occur sporadically. Treatment is based on the signs and symptoms present in each person.|MONDO|N|
C0795813|A rare chromosomal anomaly syndrome with variable phenotype and principle characteristics of developmental delay, growth retardation/short stature, hypotonia, seizures, ventriculomegaly, hand and foot anomalies (for example clinodactyly, overlapping toes) and mosaic pigmentary skin changes. Patients may also present minor dysmorphic craniofacial features (including macrocephaly, upslanting palpebral fissures, hypertelorism, abnormal auricles, anteverted nasal tip, midface hypoplasia).|SNOMEDCT_US|N|
C0795814|A rare chromosomal anomaly syndrome with a highly variable phenotype. Principle characteristics are prenatal/postnatal growth failure, intellectual disability, developmental delay, craniofacial dysmorphism (including microcephaly, microphthalmia, epicanthus, low-set and malformed ears, broad and flat nasal bridge, full lips, micrognathia), central nervous system anomalies (for example hydrocephalus, cortical atrophy, ventriculomegaly), short neck, and delayed bone age. Cardiac defects, limb anomalies, hip joint malformations and seizures have also been reported.|SNOMEDCT_US|N|
C0795816|Chromosome 6q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 6. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 6q deletion include developmental delay, intellectual disability, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.|MONDO|N|
C0795817|A rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 6. The disorder has a highly variable phenotype with typical characteristics of growth and developmental delay, intellectual disability, craniofacial dysmorphism (microcephaly, flat facial profile, frontal bossing, hypertelorism, downward-slanting palpebral fissures, flat nasal bridge, anteverted nares, bow shaped mouth, micrognathia), short webbed neck and joint contractures. Cardiac, urogenital, ophthalmologic and hand and foot anomalies, as well as umbilical hernia, spasticity and seizures are other features that have been reported.|SNOMEDCT_US|N|
C0795818|A rare chromosomal anomaly syndrome with a highly variable phenotype. Principle characteristics are growth failure, short stature, intellectual disability, dermatological abnormalities (nevus flammeus, dark pigmented nevi, cafe au lait spots), microcephaly and facial dysmorphism (including facial asymmetry, small ears, abnormal palpebral fissures, ptosis, epicanthic folds, hyper/hypotelorism). Additional reported features include convulsions, cleft lip and palate, clinodactyly, kyphoscoliosis and genital anomalies (cryptorchidism, hypospadias, micropenis).|SNOMEDCT_US|N|
C0795820|Chromosome 7p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 7. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 7p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person.|MONDO|N|
C0795821|Chromosome 7q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 7. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 7q duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person.|MONDO|N|
C0795822|Recombinant chromosome 8 syndrome (Rec8 syndrome) is a chromosomal disorder found among individuals of Hispanic descent with ancestry from the San Luis Valley of southern Colorado and northern New Mexico. Affected individuals typically have impaired intellectual development, congenital heart defects, seizures, a characteristic facial appearance with hypertelorism, thin upper lip, anteverted nares, wide face, and abnormal hair whorl, and other manifestations (Sujansky et al., 1993, summary by Graw et al., 2000).|OMIM|N|
C0795824|Deletion of the short arm of chromosome 8 postnatal growth retardation, microcephaly, subnormal mentality, epicanthal folds, malformed ears, brevicollis, widely spread nipples, heart defects, and other abnormalities. Congenital spherocytic anemia may occur.|JABL|N|
C0795825|A rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 8. The disease has a highly variable phenotype ranging from no dysmorphic features and only mild intellectual disability to patients with severe developmental delay, neonatal hypotonia, short stature, profound intellectual disability, mild dysmorphic features (for example mild ptosis, hypertelorism, down-slanting palpebral fissures, broad nasal bridge, short, prominent philtrum, abnormal dentition) and structural brain abnormalities. Autism, epilepsy, and spastic paraplegia have also been reported.|SNOMEDCT_US|N|
C0795828|Chromosome 8q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 8. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 8q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.|MONDO|N|
C0795829|A partial autosomal trisomy characterized by developmental delay, intellectual disability, prenatal and postnatal growth retardation, congenital heart, genitourinary and skeletal anomalies, and dysmorphic facial features, including high and broad forehead, hypertelorism, upslanting palpebral fissures, broad nose, dysplastic and low set ears, micrognathia. Phenotypic features vary in relation to the duplication size.|ORDO|N|
C0795830|A rare chromosomal anomaly with characteristics of psychomotor developmental delay, facial dysmorphism (trigonocephaly, midface hypoplasia, upslanting palpebral fissures, dysplastic small ears, flat nasal bridge with anteverted nostrils and long philtrum, micrognathia, choanal atresia, short neck), single umbilical artery, omphalocele, inguinal or umbilical hernia, genital abnormalities (hypospadia, cryptorchidism), muscular hypotonia and scoliosis.|SNOMEDCT_US|N|
C0795832|Tetrasomy 9p is a rare autosomal anomaly characterized by pre- and postnatal growth retardation, psychomotor delay, mild to moderate intellectual disability, hypotonia, microcephaly, dysmorphic features (ocular hypertelorism, low-set, malformed ears, bulbous/beaked nose, microretrognathia, enophthalmos/micropthalmia, epicanthus, strabismus), cleft lip/palate, skeletal abnormalities (hypoplastic nails/distal phalanges, short stature, short neck, contractures), congenital heart defects, renal and urogenital malformations (renal hypoplasia, genital hypoplasia, cryptorchidism).|ORDO|N|
C0795833|Kleefstra syndrome is characterized by intellectual disability, autistic-like features, childhood hypotonia, and distinctive facial features. The majority of individuals function in the moderate-to-severe spectrum of intellectual disability although a few individuals have mild delay and total IQ within low-normal range. While most have severe expressive speech delay with little speech development, general language development is usually at a higher level, making nonverbal communication possible. A complex pattern of other findings can also be observed; these include heart defects, renal/urologic defects, genital defects in males, severe respiratory infections, epilepsy / febrile seizures, psychiatric disorders, and extreme apathy or catatonic-like features after puberty.|GeneReviews|N|
C0795834|Duplication of the long arm of chromosome 9 with psychomotor retardation, deeply-set eyes, microdolichocephaly, beaked nose, and microretrognathia. Depending on the length of the deleted segment, additional features may include small mouth, large ears, finger abnormalities, limited joint movement, failure to thrive, congenital heart defects, and other anomalies. Longer deletions are more likely to develop life-threatening malformations shorter ones. 9q34 is sometimes considered as a separate entity which is characterized by slight psychomotor retardation, limited speech capacity, hyperactivity, feeding difficulty, failure to thrive, joint contractures, finger abnormalities, erythema, heart murmur, blepharoptosis, strabismus, dolichocephaly, facial asymmetry, narrow palpebral fissures, microphthalmia, and downturned corners of the mouth.|JABL|N|
C0795836|Deletion of the short arm of chromosome 10 with retarded psychomotor development and variable abnormalities, including dwarfism, craniofacial dysmorphism (downslanting palpebral fissures, anteverted nostrils, and eye and ear anomalies), deformed hands and feet, cryptorchidism, and dysplasia of the olfactory system.|JABL|N|
C0795839|Deletion of the long arm of chromosome 10 with delayed physical and mental development and relatively nonspecific variable abnormalities. The phenotype varies in relation to the type of deletion. The most frequent abnormalities which are common to all types include microcephaly, congenital heart defects, and hypotonia. Terminal deletion is usually characterized by anoxia and respiratory distress at birth, frequent prematurity, malformed ears, prominent nose, hypertelorism, strabismus, and short or webbed neck. Patients with ring chromosome 10 usually have hydronephrosis, bladder obstruction, cryptorchidism, and hypoplastic scrotum.|JABL|N|
C0795840|Duplication of the long arm of chromosome 10 with cardiac, renal, and respiratory complications, orofacial dysmorphism, and psychomotor retardation which vary with different karyotypes.|JABL|N|
C0795841|Jacobsen syndrome (JBS) is a contiguous gene deletion syndrome with major clinical features of growth retardation, psychomotor retardation, trigonocephaly, divergent intermittent strabismus, epicanthus, telecanthus, broad nasal bridge, short nose with anteverted nostrils, carp-shaped upper lip, retrognathia, low-set dysmorphic ears, bilateral camptodactyly, hammertoes, and isoimmune thrombocytopenia (Fryns et al., 1986, Epstein, 1986).|OMIM|N|
C0795842|Duplication of the long arm of chromosome 11 with delayed growth and mental development, craniofacial asymmetry, microcephaly, dysmorphic facies, strabismus, musculoskeletal abnormalities, imperforate anus, cryptorchidism, and congenital heart defects. Some patients exhibits symptoms of cri-du-chat or chromosome 5p deletion syndrome (a peculiar crying sound resembling that of a suffering kitten observed in infants with craniofacial abnormalities that include microcephaly, round facies, hypertelorism, upslanting palpebral fissures, epicanthus, large frontal sinus, and other anomalies). The phenotype is variable and is related to the size of duplication. Mental retardation ranges from moderate to severe.|JABL|N|
C0795843|Ring chromosome 12 syndrome is a rare chromosomal anomaly syndrome with a highly variable phenotype principally characterized by postnatal growth retardation, variable degrees of developmental delay and intellectual disability, microcephaly and facial dysmorphism (incl. epicanthal folds, low-set, cupped ears, prominent nose with flat nasal bridge, high arched palate, micrognathia). Skeletal abnormalities (e.g. pectus excavatum, clinodactyly), congenital heart malformations, cryptorchidism, café-au-lait spots and epilepsy have also been reported.|ORDO|N|
C0795844|A cytogenetic abnormality that refers to the allelic loss of all or part of the short arm of chromosome 12.|MONDO|N|
C0795845|A partial autosomal trisomy characterized by developmental delay and intellectual disability, generalized hypotonia, postnatal growth retardation, variable brain and heart anomalies and dysmorphic features, including frontal bossing, round face, full cheeks, low-set ears, broad nasal bridge, short nose with anteverted nares, long philtrum, thin upper lip vermilion, and everted, thick lower lip. Unspecific associated congenital anomalies have also been reported.|ORDO|N|
C0795846|Chromosome 12q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 12. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 12q duplication include developmental delay, intellectual disability, behavioral problems, growth delay, and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person.|MONDO|N|
C0795847|A chromosomal anomaly of chromosome 13 with characteristics of a widely variable phenotype ranging from mild to severe. Principle manifestations include intrauterine growth retardation, developmental delay, short stature, moderate to severe intellectual deficit, microcephaly, facial dysmorphism (i.e. up-slanting palpebral fissures, hypertelorism, abnormal ears, broad nasal bridge, high arched palate, micrognathia, small mouth, and thin lips), hands and feet anomalies and genital abnormalities.|SNOMEDCT_US|N|
C0795848|Cutis verticis gyrata, hypoplastic thyroid disease and mental retardation.|JABL|N|
C0795849|Duplication of the long arm of chromosome 13 with retarded development and craniofacial, neurological, and other abnormalities.|JABL|N|
C0795851|A chromosomal abnormality consisting of the presence of a third copy of chromosome 14 in somatic cells.|NCI|N|
C0795855|A rare chromosomal anomaly syndrome with a highly variable phenotype. The syndrome has characteristics of pre and/or postnatal growth retardation, variable intellectual disability, short stature, dysmorphic features (microcephaly, triangular facies, frontal bossing, hypertelorism, ear anomaly, broad nasal bridge, highly arched palate, micrognathism), hand and feet anomalies (e.g. brachydactyly, clinodactyly, syndactyly), and multiple hyperpigmented and/or hypopigmented spots. Severe phenotypes present with cardiac abnormalities and/or renal malformations. Other reported features include hypotonia, speech delay, talipes equinovarus, and genital anomalies (cryptorchidism and hypospadias).|SNOMEDCT_US|N|
C0795856|A chromosomal abnormality consisting of the presence of a third copy of chromosome 15 in somatic cells.|NCI|N|
C0795858|Chromosome 15q duplication is a chromosome abnormality that occurs when an extra (duplicate) copy of the genetic material located on the long arm (q) of chromosome 15 is present in each cell. The severity of the condition and the associated signs and symptoms vary based on the size and location of the duplication and which genes are involved. Common features shared by many people with this duplication include developmental delay; intellectual disability; hypotonia (low muscle tone); seizures ; high and/or cleft palate (roof of the mouth); scoliosis ; slow growth; communication difficulties; behavioral problems; and distinctive facial features. Most cases are not inherited, although affected people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person.|MONDO|N|
C0795861|Chromosome 16p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 16. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 16p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person.|MONDO|N|
C0795862|Deletion of the long arm of chromosome 16 characterized mainly by developmental delay, craniofacial anomalies, feeding difficulties, failure to thrive, hypotonia, and other disorders. The phenotype varies with the breakpoints.|JABL|N|
C0795863|A rare chromosomal anomaly syndrome resulting from partial deletion of chromosome 17. The disease has highly variable manifestations ranging from a severe phenotype which presents with lissencephaly and severe intellectual disability to a milder phenotype that includes short stature, microcephaly, intellectual disability, seizures (that may be pharmacoresistant), cafe-au-lait spots, retinal flecks and minor facial dysmorphism depending on the presence or absence of the Miller-Dieker critical region.|SNOMEDCT_US|N|
C0795864|Smith-Magenis syndrome (SMS) is characterized by distinctive physical features (particularly coarse facial features that progress with age), developmental delay, cognitive impairment, behavioral abnormalities, sleep disturbance, and childhood-onset abdominal obesity. Infants have feeding difficulties, failure to thrive, hypotonia, hyporeflexia, prolonged napping or need to be awakened for feeds, and generalized lethargy. The majority of individuals function in the mild-to-moderate range of intellectual disability. The behavioral phenotype, including significant sleep disturbance, stereotypies, and maladaptive and self-injurious behaviors, is generally not recognized until age 18 months or older and continues to change until adulthood. Sensory issues are frequently noted; these may include avoidant behavior, as well as repetitive seeking of textures, sounds, and experiences. Toileting difficulties are common. Significant anxiety is common as are problems with executive functioning, including inattention, distractibility, hyperactivity, and impulsivity. Maladaptive behaviors include frequent outbursts / temper tantrums, attention-seeking behaviors, opposition, aggression, and self-injurious behaviors including self-hitting, self-biting, skin picking, inserting foreign objects into body orifices (polyembolokoilamania), and yanking fingernails and/or toenails (onychotillomania). Among the stereotypic behaviors described, the spasmodic upper-body squeeze or "self-hug" seems to be highly associated with SMS. An underlying developmental asynchrony, specifically emotional maturity delayed beyond intellectual functioning, may also contribute to maladaptive behaviors in people with SMS.|GeneReviews|N|
C0795865|A rare chromosomal abnormality resulting from the duplication of the short arm of chromosome 17 with characteristics of pre and post-natal growth retardation, developmental delay, hypotonia, digital abnormalities, congenital heart defects, and distinctive facial features. It has been described in fewer than 15 patients. Facial dysmorphism includes microcephaly, receding forehead, down-slanting palpebral fissures, ptosis, hypertelorism, low-set malformed ears, smooth philtrum, micrognathia, high-arched palate and a short broad neck. Digital abnormalities include absent fourth and fifth digits, brachydactyly and fifth finger clinodactyly. Genital hypoplasia in males and hypertrichosis are often observed. Intellectual deficit is severe to profound and the prognosis is poor. Trisomy 17p has been reported to be pure, as the result of a de novo 17p duplication or an extra chromosome derived from the 17p arm.|SNOMEDCT_US|N|
C0795868|Tetrasomy 18p is a chromosomal condition that affects many parts of the body. This condition usually causes feeding difficulties in infancy, delayed development, intellectual disability that is often mild to moderate but can be severe, changes in muscle tone, distinctive facial features, and other birth defects. However, the signs and symptoms vary among affected individuals.\n\nBabies with tetrasomy 18p often have trouble feeding and may vomit frequently, which makes it difficult for them to gain weight. Some affected infants also have breathing problems and jaundice, which is a yellowing of the skin and the whites of the eyes.\n\nChanges in muscle tone are commonly seen with tetrasomy 18p. Some affected children have weak muscle tone (hypotonia), while others have increased muscle tone (hypertonia) and stiffness (spasticity). These changes contribute to delayed development of motor skills, including sitting, crawling, and walking.\n\nTetrasomy 18p is associated with a distinctive facial appearance that can include unusually shaped and low-set ears, a small mouth, a flat area between the upper lip and the nose (philtrum), and a thin upper lip. Many affected individuals also have a high, arched roof of the mouth (palate), and a few have had a split in the roof of the mouth (cleft palate).\n\nAdditional features of tetrasomy 18p can include seizures, vision problems, recurrent ear infections, mild to moderate hearing loss, constipation and other gastrointestinal problems, abnormal curvature of the spine (scoliosis or kyphosis), a shortage of growth hormone, and birth defects affecting the heart and other organs. Males with tetrasomy 18p may be born with undescended testes (cryptorchidism) or the opening of the urethra on the underside of the penis (hypospadias). Psychiatric conditions, such as attention-deficit/hyperactivity disorder (ADHD) and anxiety, as well as social and behavioral challenges have also been reported in some people with tetrasomy 18p.|MedlinePlus Genetics|N|
C0795869|A rare chromosomal anomaly syndrome with a highly variable phenotype that may range from normal to patients with profound intellectual disability, developmental delay, learning disability (especially speech) and mild dysmorphism (including micro/macrocephaly, prominent forehead, low-set and posteriorly rotated ears, hypertelorism, high nasal bridge, prominent philtrum, retro/micrognathia). Mild hypotonia and autistic-like mannerisms (for example hand opening and closing, head banging) may also be associated. Other anomalies, such as cutis laxa, hearing loss, syndactyly, digital hypoplasia and talipes equinovarus have also been reported.|SNOMEDCT_US|N|
C0795871|Duplication of the long arm of chromosome 19 with psychomotor retardation, microbrachycephaly, open cranial sutures, downslanting palpebral fissures, blepharoptosis, hypertelorism, downturned corners of the mouth, and short nose. The severity of symptoms is related to the length of the duplicated segment.|JABL|N|
C0795873|This syndrome has characteristics of moderate intellectual deficit and severe, early-onset retinitis pigmentosa. It has been described in five males spanning three generations of one family. Some patients also had microcephaly. It is transmitted as an X-linked recessive trait.|SNOMEDCT_US|N|
C0795875|Monosomy 21 is a chromosomal anomaly characterized by the loss of variable portions of a segment of the long arm of chromosome 21 that leads to an increased risk of birth defects, developmental delay and intellectual deficit.|ORDO|N|
C0795877|Partial tetrasomy involving the long arm of chromosome 21 with mental retardation, craniofacial dysmorphism, hernia, genital anomalies, and hand and foot deformities.|JABL|N|
C0795878|A rare autosomal anomaly syndrome with a highly variable phenotype and typical characteristics of short length, joint abnormalities (for example dysplasia, hyperextensibility, contractures, dislocation), congenital cardiac defects, and craniofacial dysmorphism (including microcephaly, a high prominent narrow and/or hairy forehead, epicanthus, upward-slanting and/or small palpebral fissures, broad high or depressed nasal bridge and malformed ears). Delayed motor development and intellectual disability is observed in patients not presenting early demise.|SNOMEDCT_US|N|
C0795884|Tetraploidy is an extremely rare chromosomal anomaly, polyploidy, when an affected individual has four copies of each chromosome, instead of two, resulting in total of 92 chromosomes in each cell. The phenotype is severe with multiple congenital anomalies, including central nervous system, ocular, cardiac, renal, and/or genital malformations and limb defects. Most patients show severe intrauterine growth retardation, hypotonia, failure to thrive and developmental delay. It is usually associated with miscarriage.|ORDO|N|
C0795887|Infantile or complex glycerol kinase deficiency is a contiguous gene syndrome caused by microdeletion of GK (300474) and its neighboring genes, dystrophin (300377), which causes Duchenne muscular dystrophy (DMD; 310200), and NR0B1 (300473), which causes congenital adrenal hypoplasia (AHC; 300200). Patients present with hyperglycerolemia and glyceroluria, associated with DMD and/or AHC (summary by Stanczak et al., 2007).|OMIM|N|
C0795888|Autism, the prototypic pervasive developmental disorder (PDD), is usually apparent by 3 years of age. It is characterized by a triad of limited or absent verbal communication, a lack of reciprocal social interaction or responsiveness, and restricted, stereotypical, and ritualized patterns of interests and behavior (Bailey et al., 1996; Risch et al., 1999). 'Autism spectrum disorder,' sometimes referred to as ASD, is a broader phenotype encompassing the less severe disorders Asperger syndrome (see ASPG1; 608638) and pervasive developmental disorder, not otherwise specified (PDD-NOS). 'Broad autism phenotype' includes individuals with some symptoms of autism, but who do not meet the full criteria for autism or other disorders. Mental retardation coexists in approximately two-thirds of individuals with ASD, except for Asperger syndrome, in which mental retardation is conspicuously absent (Jones et al., 2008). Genetic studies in autism often include family members with these less stringent diagnoses (Schellenberg et al., 2006).
Levy et al. (2009) provided a general review of autism and autism spectrum disorder, including epidemiology, characteristics of the disorder, diagnosis, neurobiologic hypotheses for the etiology, genetics, and treatment options.|OMIM|N|
C0795889|Allan-Herndon-Dudley syndrome (AHDS), an X-linked disorder, is characterized in males by neurologic findings (hypotonia and feeding difficulties in infancy, developmental delay / intellectual disability ranging from mild to profound) and later-onset pyramidal signs, extrapyramidal findings (dystonia, choreoathetosis, paroxysmal movement disorder, hypokinesia, masked facies), and seizures, often with drug resistance. Additional findings can include dysthyroidism (manifest as poor weight gain, reduced muscle mass, and variable cold intolerance, sweating, elevated heart rate, and irritability) and pathognomonic thyroid test results. Most heterozygous females are not clinically affected but may have minor thyroid test abnormalities.|GeneReviews|N|
C0795891|Chromosome Xq duplication is a chromosome abnormality that affects many different parts of the body. People with this condition have an extra copy of the genetic material located on the long arm (q) of the X chromosome in each cell. The severity of the condition and the associated signs and symptoms vary based on the size and location of theduplication;the genes involved; and the sex of the affected person. In general, males are typically more severely affected than females and often experience intellectual disability, developmental delay, short stature, abnormalities of the reproductive organs, anddistinctive craniofacial features. Many females with this duplication do not have any symptoms or are only affected with short stature; however, some may be just as severely affected as males with the condition. Most cases are inherited in an X-linked manner, often from a mother with no signs or symptoms of the condition. Treatment is based on the signs and symptoms present in each person.|MONDO|N|
C0795895|A form of ectodermal dysplasia syndrome characterized by a short stature of prenatal onset, alopecia, ichthyosis, photophobia, ectrodactyly, seizures, scoliosis, multiple contractures, fusions of various bones (particularly elbows, carpals, metacarpals, and spine), intellectual disability, and facial dysmorphism (microdolichocephaly, madarosis, large ears and long nose). ACD syndrome overlaps with ichthyosis follicularis-alopecia-photophobia syndrome.|ORDO|N|
C0795898|Syngnathia refers to congenital fusion of the maxilla and mandible. The fusion can be classified depending on the nature of the connecting tissue as either fibrous or bony fusion. Laster et al. (2001) proposed a classification for bony syngnathia into 4 types. Type 1a is simple anterior syngnathia characterized by bony fusion of the alveolar ridge only; type 1b is complex anterior syngnathia characterized by bony fusion of the alveolar ridges and also associated with other congenital malformations in the head and neck region; type 2a is simple mandibulozygomatic syngnathia characterized by bony fusion of the mandible to zygoma; and type 2b is complex mandibulozygomatic syngnathia characterized by bony fusion of the mandible to the zygoma and associated with cleft palate and/or temporomandibular joint ankylosis.|OMIM|N|
C0795900|A syndrome of spastic dwarfism with prominent eyes associated with retarded bone age, delayed mental development, small size at birth and during early childhood, slender build, spasticity, convulsions, and characteristic facies.|JABL|N|
C0795902|The syndrome was originally reported as a concurrence of coloboma of the iris and choroid, cleft lip and/or palate, and mental retardation. Its scope is now expanded to include impaired ocular motility, sensory hearing loss, and hematuria.|JABL|N|
C0795905|Cantú syndrome is characterized by congenital hypertrichosis; distinctive coarse facial features (including broad nasal bridge, wide mouth with full lips and macroglossia); enlarged heart with enhanced systolic function or pericardial effusion and in many, a large patent ductus arteriosus (PDA) requiring repair; and skeletal abnormalities (thickening of the calvaria, broad ribs, scoliosis, and flaring of the metaphyses). Other cardiovascular abnormalities may include dilated aortic root and ascending aorta with rare aortic aneurysm, tortuous vascularity involving brain and retinal vasculature, and pulmonary arteriovenous communications. Generalized edema (which may be present at birth) spontaneously resolves; peripheral edema of the lower extremities (and sometimes arms and hands) may develop at adolescence. Developmental delays are common, but intellect is typically normal; behavioral problems can include attention-deficit/hyperactivity disorder, autism spectrum disorder, obsessive-compulsive disorder, anxiety, and depression.|GeneReviews|N|
C0795907|A syndrome of dysmorphic facies and conotruncal heart defects having common genetic characteristics with DiGeorge and Shprinzen syndromes. Considered a variant of the CATCH 22 syndrome.|JABL|N|
C0795910|X-linked recessive Charcot-Marie-Tooth disease-4 with or without cerebellar ataxia (CMTX4) is a mitochondrial disorder manifest as progressive neurologic dysfunction with highly variable features. The age at onset ranges from infancy to young adulthood, and patients can present with different features, including hearing loss, delayed motor development, or difficulty walking due to peripheral neuropathy and/or cerebellar ataxia. Most patients develop all features, including a progressive sensorimotor axonal neuropathy and deafness due to auditory neuropathy. Additional more variable features can include cognitive impairment, cerebellar atrophy on brain imaging, cerebellar signs, such as dysarthria, abnormal extraocular movements, tremor, and dysmetria, as well as spasticity. There is significant intrafamilial variability: the variable features are consistent with mitochondrial dysfunction. Prolonged treatment with riboflavin may result in some mild improvement in the ataxia (summary by Rinaldi et al., 2012, Heimer et al., 2018, Bogdanova-Mihaylova et al., 2019).|OMIM|N|
C0795914|A lethal combination of manifestations including short stature, congenital cataracts, encephalopathy with epileptic fits and postmortem confirmation of nephropathy (renal tubular necrosis). The combination has been described in 2 female infant children of first cousin parents. The infants did not survive beyond 4 and 8 months respectively. There have been no further descriptions in the literature since 1963.|SNOMEDCT_US|N|
C0795915|Curry-Jones syndrome (CRJS) is a multisystem disorder characterized by patchy skin lesions, polysyndactyly, diverse cerebral malformations, unicoronal craniosynostosis, iris colobomas, microphthalmia, and intestinal malrotation with myofibromas or hamartomas (summary by Twigg et al., 2016).|OMIM|N|
C0795917|Alpha-thalassemia X-linked intellectual disability (ATR-X) syndrome is characterized by distinctive craniofacial features, genital anomalies, hypotonia, and mild-to-profound developmental delay / intellectual disability (DD/ID). Craniofacial abnormalities include small head circumference, telecanthus or widely spaced eyes, short triangular nose, tented upper lip, and thick or everted lower lip with coarsening of the facial features over time. While all affected individuals have a normal 46,XY karyotype, genital anomalies comprise a range from hypospadias and undescended testicles, to severe hypospadias and ambiguous genitalia, to normal-appearing female external genitalia. Alpha-thalassemia, observed in about 75% of affected individuals, is mild and typically does not require treatment. Osteosarcoma has been reported in a few males with germline pathogenic variants.|GeneReviews|N|
C0795919|A rare genetic ectodermal dysplasia syndrome characterized by skin, hair and nail anomalies (such as generalized ichthyosis, congenital alopecia universalis, dystrophic, convex nails), associated with hypohidrosis without hyperthermia, intellectual disability, seizures, and skeletal (for example proportionate short stature, platyspondyly) and intestinal (for example congenital aganglionic megacolon) anomalies. Facial dysmorphism includes frontal bossing, blepharophimosis, large ears, low nasal bridge and small nose. There have been no further descriptions in the literature since 1992.|SNOMEDCT_US|N|
C0795927|A syndrome of mental retardation, sensorineural deafness, abnormal nails and phalanges of the hands and feet, and variable seizures. A similar deafness-onychodystrophy syndrome is transmitted as an autosomal dominant trait and has no mental retardation.|JABL|N|
C0795933|A rare genetic lethal multiple congenital anomalies/dysmorphic syndrome characterized by consistently abnormal facial appearance, true or apparent hydrocephalus, motor and cognitive developmental delay, failure to thrive (feeding difficulties, vomiting, chest infections) and death within a few months of birth. Carp mouth, hairiness of the forehead, neonatal hyperbilirubinemia and advanced bone age may also be associated. There have been no further descriptions in the literature since 1991.|SNOMEDCT_US|N|
C0795934|TBC1D24-related disorders comprise a continuum of features that were originally described as distinct, recognized phenotypes: DOORS syndrome (deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures). Profound sensorineural hearing loss, onychodystrophy, osteodystrophy, intellectual disability / developmental delay, and seizures. Familial infantile myoclonic epilepsy (FIME). Early-onset myoclonic seizures, focal epilepsy, dysarthria, and mild-to-moderate intellectual disability. Progressive myoclonus epilepsy (PME). Action myoclonus, tonic-clonic seizures, progressive neurologic decline, and ataxia. Early-infantile epileptic encephalopathy 16 (EIEE16). Epileptiform EEG abnormalities which themselves are believed to contribute to progressive disturbance in cerebral function. Autosomal recessive nonsyndromic hearing loss, DFNB86. Profound prelingual deafness. Autosomal dominant nonsyndromic hearing loss, DFNA65. Slowly progressive deafness with onset in the third decade, initially affecting the high frequencies.|GeneReviews|N|
C0795936|A very rare syndrome with characteristics of intellectual deficit, horseshoe kidney, and congenital heart defects. Four cases have been reported in the literature in two unrelated families. Dysmorphic features include plagiocephaly, malar hypoplasia, broad nasal bridge, poorly developed philtrum and nasal alae, cleft palate and hypodontia. Congenital heart defects were endocardial fibroelastosis in one family and prolapse of the tricuspid valve in the other. The condition is probably hereditary and transmitted as an autosomal recessive trait.|SNOMEDCT_US|N|
C0795939|The pseudoaminopterin syndrome (aminopterin syndrome sine aminopterin; ASSA) is a multiple congenital anomaly disorder characterized by ossification defects of the skull, dysmorphic facial features, delayed development, and variable limb defects. The clinical features resemble the embryopathy caused by maternal treatment with the folic acid antagonist aminopterin, which has been recognized since 1952 (Thiersch, 1952) when aminopterin was used as an abortifacient. The characteristic phenotype of the children who survived infancy after having been exposed to aminopterin or its methyl derivative, methotrexate, in early pregnancy included a very unusual facies, skull anomalies, and skeletal defects (summary by Fraser et al., 1987).|OMIM|N|
C0795940|Filippi syndrome is characterized by short stature, microcephaly, syndactyly, intellectual disability, and facial dysmorphism consisting of bulging forehead, broad and prominent nasal bridge, and diminished alar flare. Common features include cryptorchidism, speech impairment, and clinodactyly of the fifth finger, Some patients exhibit visual disturbances, polydactyly, seizures, and/or ectodermal abnormalities, such as nail hypoplasia, long eyelashes, hirsutism, and microdontia (summary by Hussain et al., 2014).|OMIM|N|
C0795941|Syndrome with characteristics of psychomotor delay, brachycephaly with flat face, small nose, microstomia, cleft palate, cataract, hearing loss, hypoplastic scrotum and digital anomalies. Less than 10 patients have been described in the literature so far. Although the majority of reported cases were sporadic, the syndrome has been reported in one pair of siblings (a brother and sister) with an apparently autosomal recessive inheritance pattern.|SNOMEDCT_US|N|
C0795944|An extremely rare multi-systemic genetic disorder with characteristics of intellectual disability, deafness, skeletal abnormalities and coarse facial features.The syndrome is exceedingly rare and has been reported in only a few patients to date. Male and female patients have been described. The main clinical features include moderate to severe intellectual deficit, congenital sensorineural hearing impairment and broad, stubby hands and feet. A coarse face with full lips and cheeks is also found. These signs are reported to become more prominent with age. The pattern of inheritance appears to be autosomal recessive.|SNOMEDCT_US|N|
C0795947|A rare genetic multiple congenital anomalies/dysmorphic syndrome with the association of short stature and progressive discrete subaortic stenosis. Additional variable manifestations include upturned nose, voice and vocal cord abnormalities, obstructive lung disease, inguinal hernia, kyphoscoliosis and occasionally epicanthus, strabismus, microphthalmos and widely spaced teeth. There have been no further descriptions in the literature since 1984.|SNOMEDCT_US|N|
C0795949|Galloway-Mowat syndrome is a rare autosomal recessive neurodegenerative disorder characterized by infantile onset of microcephaly and central nervous system abnormalities resulting in severely delayed psychomotor development. Brain imaging shows cerebellar atrophy and sometimes cerebral atrophy. More variable features include optic atrophy, movement disorders, seizures, and nephrotic syndrome (summary by Vodopiutz et al., 2015).
Genetic Heterogeneity of Galloway-Mowat Syndrome
See also GAMOS2 (301006), caused by mutation in the LAGE3 gene (300060) on chromosome Xq28; GAMOS3 (617729), caused by mutation in the OSGEP gene (610107) on chromosome 14q11; GAMOS4 (617730), caused by mutation in the TP53RK gene (608679) on chromosome 20q13; GAMOS5 (617731), caused by mutation in the TPRKB gene (608680) on chromosome 2p13; GAMOS6 (618347), caused by mutation in the WDR4 gene (605924) on chromosome 21q22; GAMOS7 (618348), caused by mutation in the NUP107 gene (607617) on chromosome 12q15; GAMOS8 (618349), caused by mutation in the NUP133 gene (607613) on chromosome 1q42; GAMOS9 (619603), caused by mutation in the GON7 gene (617436) on chromosome 14q32; and GAMOS10 (619609), caused by mutation in the YRDC gene (612276) on chromosome 1p34.|OMIM|N|
C0795950|Hereditary motor and sensory neuropathy with agenesis of the corpus callosum (HMSN/ACC), a neurodevelopmental and neurodegenerative disorder, is characterized by severe progressive sensorimotor neuropathy with resulting hypotonia, areflexia, and amyotrophy, and by variable degrees of dysgenesis of the corpus callosum. Mild-to-severe intellectual disability and "psychotic episodes" during adolescence are observed. Sensory modalities are moderately to severely affected beginning in infancy. The average age of onset of walking is 3.8 years; the average age of loss of walking is 13.8 years; the average age of death is 33 years.|GeneReviews|N|
C0795952|A rare syndromic type of cerebral malformation with characteristics of aprosencephaly (absence of telencephalon and diencephalon), oculo-facial anomalies (such as ocular hypotelorism or cyclopia, malformation/absence of nasal structures, cleft lip), preaxial limb defects (such as hypoplastic hands, absent halluces) and various other anomalies including ambiguous genitalia, imperforate anus, and vertebral anomalies.|SNOMEDCT_US|N|
C0795953|L1 syndrome involves a phenotypic spectrum ranging from severe to mild and includes three clinical phenotypes: X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS). MASA (mental retardation [intellectual disability], aphasia [delayed speech], spastic paraplegia [shuffling gait], adducted thumbs) syndrome including X-linked complicated hereditary spastic paraplegia type 1. X-linked complicated corpus callosum agenesis. Males with HSAS are born with severe hydrocephalus, adducted thumbs, and spasticity; intellectual disability is severe. In less severely affected males, hydrocephalus may be subclinically present and documented only because of developmental delay; intellectual disability ranges from mild (IQ: 50-70) to moderate (IQ: 30-50). It is important to note that all phenotypes can be observed in affected individuals within the same family.|GeneReviews|N|
C0795956|Chylomicron retention disease (CMRD), characterized by the inability to secrete chylomicrons from the enterocytes following the ingestion of fat, typically presents in infancy with failure to thrive, diarrhea, vomiting, abdominal distention, and malabsorption of fat. This leads to steatorrhea – the severity of which relates to the fat content of the diet – and in some cases, hepatomegaly. Organ systems outside of the gastrointestinal tract may also be affected (often due to malnutrition and deficiencies of fat-soluble vitamins), including neuromuscular abnormalities (typically in the first or second decade of life) secondary to vitamin E deficiency, poor bone mineralization and delayed bone maturation due to vitamin D deficiency, prolonged international normalized ratio (INR) due to vitamin K deficiency, mild ophthalmologic issues (e.g., micronystagmus, delayed dark adaptation, abnormal visual evoked potentials, and abnormal scotopic electroretinograms), and (in a small proportion of adults) cardiomyopathy with decreased ejection fraction. Affected individuals typically have marked hypocholesterolemia, low plasma apolipoprotein B levels, normal-to-low plasma triglyceride levels, and low serum concentrations of fat-soluble vitamins (A, D, E, and K). Endoscopy typically demonstrates a gelée blanche ("white hoar frosting") appearance of the duodenal mucosa.|GeneReviews|N|
C0795959|Gomez-Lopez-Hernandez syndrome (GLHS), also known as cerebellotrigeminal dermal dysplasia, is a rare neurocutaneous syndrome classically characterized by the triad of rhombencephalosynapsis, trigeminal anesthesia, often giving rise to corneal opacities, and bilateral parietal or parietooccipital alopecia. However, trigeminal anesthesia is an inconsistent finding (summary by Sukhudyan et al., 2010).|OMIM|N|
C0795965|The Gustavson type of X-linked syndromic intellectual developmental disorder (MRXSG) is characterized by intrauterine growth retardation, microcephaly, hypotonia, and severe global developmental delay, usually resulting in death in infancy or early childhood. Affected males have profoundly impaired intellectual development with absent speech, poor reaction to stimuli, optic atrophy, deafness, seizures, spasticity, and restriction of the large joints. Female carriers are usually unaffected due to skewed X inactivation that silences the pathogenic allele, although 1 severely affected female has been reported (Johansson et al., 2024).|OMIM|N|
C0795966|A very rare syndrome consisting of microcephaly with facial dysmorphism, spondylometaphyseal dysplasia and severe intellectual deficit. Eight cases have been reported in the literature in two unrelated families. Dysmorphic features include hypertelorism, depressed nasal bridge, and large nose with a large nasal tip, anteverted nostrils and wide mouth with thick lips. Affected patients do not achieve language ability. The condition is probably hereditary, and transmitted as an autosomal recessive trait.|SNOMEDCT_US|N|
C0795969|MED12-related disorders include the phenotypes of FG syndrome type 1 (FGS1), Lujan syndrome (LS), X-linked Ohdo syndrome (XLOS), Hardikar syndrome (HS), and nonspecific intellectual disability (NSID). FGS1 and LS share the clinical findings of cognitive impairment, hypotonia, and abnormalities of the corpus callosum. FGS1 is further characterized by absolute or relative macrocephaly, tall forehead, downslanted palpebral fissures, small and simple ears, constipation and/or anal anomalies, broad thumbs and halluces, and characteristic behavior. LS is further characterized by large head, tall thin body habitus, long thin face, prominent nasal bridge, high narrow palate, and short philtrum. Carrier females in families with FGS1 and LS are typically unaffected. XLOS is characterized by intellectual disability, blepharophimosis, and facial coarsening. HS has been described in females with cleft lip and/or cleft palate, biliary and liver anomalies, intestinal malrotation, pigmentary retinopathy, and coarctation of the aorta. Developmental and cognitive concerns have not been reported in females with HS. Pathogenic variants in MED12 have been reported in an increasing number of males and females with NSID, with affected individuals often having clinical features identified in other MED12-related disorders.|GeneReviews|N|
C0795970|The association of intellectual deficit, facial dysmorphism (a highly arched palate, pointed chin, and small mouth, hypotelorism, a long nose and large protruding ears), arachnodactyly, hypogenitalism (undescended testes and hypospadias) and failure to thrive. So far, it has been described in three males (including two brothers). An autosomal recessive mode of transmission has been suggested.|SNOMEDCT_US|N|
C0795974|Hereditary bullous dystrophy of the macular type (HBDM) is a rare X-linked recessive disorder characterized by the formation of bullae without evident trauma, hyper- and hypopigmentation, absence of hair at birth, and, in some cases, microcephaly, mildly impaired intellectual development, short conic fingers, and aberrations of nails (summary by Wijker et al., 1995).|OMIM|N|
C0795976|A combination of congenital anomalies consisting of hirsutism, brachycephaly, abnormal position of thumbs, pedes excavatio with claw-toes, facial abnormalities, and mental deficiency.|JABL|N|
C0795989|A very rare multiple congenital anomalies syndrome described in three brothers of one South-African family, and characterized by hypospadias and intellectual deficit, in association with microcephaly, craniofacial dysmorphism, joint laxity and beaked nails.|ORDO|N|
C0795996|Comprises of several syndromes of bilateral symmetric spongy degeneration of the caudate nucleus, putamen and globus pallidus with characteristics of developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis. Can be familial or sporadic. The familial form has an insidious onset and a slowly progressive downhill course, while the sporadic form is associated with abrupt neurologic dysfunction following an acute systemic febrile illness such as a mycoplasma, measles or streptococcus infection. Familial disease can be inherited as an autosomal recessive or mitochondrial disorder.|SNOMEDCT_US|N|
C0795998|Jackson-Weiss syndrome (JWS) is an autosomal dominant condition consisting of craniosynostosis characterized by premature fusion of the cranial sutures as well as radiographic anomalies of the feet (summary by Heike et al., 2001).|OMIM|N|
C0796000|A syndrome of unknown etiology with variable expression characterized mainly by non-ossifying fibromata, extraskeletal congenital anomalies such as cafe-au-lait spots, mental retardation, hypogonadism or cryptorchidism, and ocular and cardiovascular malformations.|JABL|N|
C0796001|A rare intellectual disability syndrome with characteristics of severe intellectual disability, spastic paraplegia (with wasting of the lower limbs) and distal transverse defects of the limbs (e.g. ectrodactyly, syndactyly, clinodactyly of the hands and/or feet).|SNOMEDCT_US|N|
C0796002|Johnson neuroectodermal syndrome has characteristics of alopecia, anosmia or hyposmia, conductive deafness with malformed ears and microtia and/or atresia of the external auditory canal and hypogonadotropic hypogonadism. So far, less than 30 cases have been described in the literature. Other variable features include a congenital heart defect, facial asymmetry, intellectual deficit, cleft palate, choanal stenosis and an increased tendency for dental caries. The syndrome is transmitted as an autosomal dominant trait. The combination of developmental anomalies present in patients with this syndrome is suggestive of an embryological defect in the formation of the neuroectodermal derivatives of cephalic neural crest.|SNOMEDCT_US|N|
C0796003|A rare syndrome of mental retardation, growth failure, characteristic facies, sensorineural deafness, microgenitalism, and early death.|JABL|N|
C0796004|Kabuki syndrome (KS) is characterized by typical facial features (long palpebral fissures with eversion of the lateral third of the lower eyelid; arched and broad eyebrows; short columella with depressed nasal tip; large, prominent, or cupped ears), minor skeletal anomalies, persistence of fetal fingertip pads, mild-to-moderate intellectual disability, and postnatal growth deficiency. Other findings may include: congenital heart defects, genitourinary anomalies, cleft lip and/or palate, gastrointestinal anomalies including anal atresia, ptosis and strabismus, and widely spaced teeth and hypodontia. Functional differences can include: increased susceptibility to infections and autoimmune disorders, seizures, endocrinologic abnormalities (including isolated premature thelarche in females), feeding problems, and hearing loss.|GeneReviews|N|
C0796005|An extremely rare syndrome with characteristics of facial dysmorphism, severe intellectual deficiency, cardiac and intestinal anomalies, and growth retardation. Only four cases have been reported in the literature, in three unrelated families. Dysmorphic features include bilateral cleft lip and palate, bulbous nasal tip and eye anomalies. The condition seems to be inherited as an autosomal recessive trait.|SNOMEDCT_US|N|
C0796010|A convulsive seizure disorder observed in an isolated tribe in the interior of Tanzania. It is a chronic degenerative disorder of the central nervous system associated with seizures and other neurological complications, characteristic facies, psychomotor retardation, and pachyderma. Kifafa is a Swahili word meaning ""being half-dead and rigid.""|JABL|N|
C0796012|Peters plus syndrome is characterized by anterior chamber eye anomalies, short limbs with broad distal extremities, characteristic facial features, cleft lip/palate, and variable developmental delay / intellectual disability. The most common anterior chamber defect is Peters' anomaly, consisting of central corneal clouding, thinning of the posterior cornea, and iridocorneal adhesions. Cataracts and glaucoma are common. Developmental delay is observed in about 80% of children; intellectual disability can range from mild to severe.|GeneReviews|N|
C0796013|A rare genetic multiple congenital anomalies syndrome characterized by gingival fibromatosis, coarse facial appearance, and absence or hypoplasia of nails or terminal phalanges of hands and feet.|ORDO|N|
C0796016|Microphthalmia-ankyloblepharon-intellectual disability syndrome is characterized by microphthalmia, ankyloblepharon and intellectual deficit. It has been described in seven male patients from two generations of a Northern Ireland family. The causative gene is localized to the Xq27-q28 region. The syndrome is transmitted as an X-linked recessive trait.|ORDO|N|
C0796019|Spastic paraplegia-23 (SPG23) is an autosomal recessive neurologic disorder characterized by childhood-onset spastic paraplegia resulting in gait difficulties and associated with pigmentary abnormalities, including premature graying of the hair and vitiligo-like or hyperpigmented skin lesions. Some patients may also have a peripheral neuropathy (summary by Lee et al., 2017).|OMIM|N|
C0796020|A very rare syndrome with characteristics of microcephaly, craniosynostosis, glaucoma, growth failure and visceral malformations. Only three cases have been reported in the literature in three unrelated families. Dysmorphic features include trigonocephaly, exotropia, cleft palate, beaked nose and low-set ears. All the affected patients have associated congenital visceral malformations including congenital heart defects, diaphragmatic hernia, genital or cerebral abnormalities. The demonstration of congenital glaucoma, hallmark of the syndrome, in the father of an affected patient, supports autosomal dominant inheritance. Prognosis is poor.|SNOMEDCT_US|N|
C0796021|Lowry-Wood syndrome (LWS) is characterized by multiple epiphyseal dysplasia and microcephaly. Patients exhibit intrauterine growth retardation and short stature, as well as developmental delay and intellectual disability. Retinal degeneration has been reported in some patients (Farach et al., 2018; Shelihan et al., 2018).
Microcephalic osteodysplastic primordial dwarfism type I (MOPD1; 210710) and Roifman syndrome (RFMN; 616651), the features of which overlap with those of Lowry-Wood syndrome, are also caused by biallelic mutation in the RNU4ATAC gene.|OMIM|N|
C0796022|MED12-related disorders include the phenotypes of FG syndrome type 1 (FGS1), Lujan syndrome (LS), X-linked Ohdo syndrome (XLOS), Hardikar syndrome (HS), and nonspecific intellectual disability (NSID). FGS1 and LS share the clinical findings of cognitive impairment, hypotonia, and abnormalities of the corpus callosum. FGS1 is further characterized by absolute or relative macrocephaly, tall forehead, downslanted palpebral fissures, small and simple ears, constipation and/or anal anomalies, broad thumbs and halluces, and characteristic behavior. LS is further characterized by large head, tall thin body habitus, long thin face, prominent nasal bridge, high narrow palate, and short philtrum. Carrier females in families with FGS1 and LS are typically unaffected. XLOS is characterized by intellectual disability, blepharophimosis, and facial coarsening. HS has been described in females with cleft lip and/or cleft palate, biliary and liver anomalies, intestinal malrotation, pigmentary retinopathy, and coarctation of the aorta. Developmental and cognitive concerns have not been reported in females with HS. Pathogenic variants in MED12 have been reported in an increasing number of males and females with NSID, with affected individuals often having clinical features identified in other MED12-related disorders.|GeneReviews|N|
C0796023|Lysine malabsorption with severe malnourishment, extreme flaccidity, and psychomotor retardation.|JABL|N|
C0796024|A very rare syndrome described in two siblings with manifestation of prenatal onset of growth deficiency, microcephaly, hypoplastic genitalia, and birth onset of convulsions.|SNOMEDCT_US|N|
C0796028|Arts syndrome, which is part of the spectrum of PRPS1-related disorders, is characterized by profound congenital sensorineural hearing impairment, early-onset hypotonia, delayed motor development, mild to moderate intellectual disability, ataxia, and increased risk of infection, all of which – with the exception of optic atrophy – present before age two years. Signs of peripheral neuropathy develop during early childhood. Twelve of 15 boys from the two Dutch families reported with Arts syndrome died before age six years of complications of infection. Carrier females can show late-onset (age >20 years) hearing impairment and other findings.|GeneReviews|N|
C0796031|This syndrome is characterized by the association of dilated cardiomyopathy and hypergonadotropic hypogonadism (DCM-HH).|ORDO|N|
C0796032|The term '3MC syndrome' encompasses 4 rare autosomal recessive disorders that were previously designated the Carnevale, Mingarelli, Malpuech, and Michels syndromes, respectively. The main features of these syndromes are facial dysmorphism that includes hypertelorism, blepharophimosis, blepharoptosis, and highly arched eyebrows, which are present in 70 to 95% of cases. Cleft lip and palate, postnatal growth deficiency, cognitive impairment, and hearing loss are also consistent findings, occurring in 40 to 68% of cases. Craniosynostosis, radioulnar synostosis, and genital and vesicorenal anomalies occur in 20 to 30% of cases. Rare features include anterior chamber defects, cardiac anomalies, caudal appendage, umbilical hernia (omphalocele), and diastasis recti (summary by Rooryck et al., 2011).
For a discussion of genetic heterogeneity of 3MC syndrome, see 3MC1 (257920).|OMIM|N|
C0796033|Marden-Walker syndrome (MWKS) is characterized by psychomotor retardation, a mask-like face with blepharophimosis, micrognathia and a high-arched or cleft palate, low-set ears, kyphoscoliosis, and joint contractures. Other features may include Dandy-Walker malformation with hydrocephalus and vertebral abnormalities (summary by Schrander-Stumpel et al., 1993).
There are 2 distal arthrogryposis syndromes with features overlapping those of Marden-Walker syndrome that are also caused by heterozygous mutation in PIEZO2: distal arthrogryposis type 3 (DA3, or Gordon syndrome; 114300) and distal arthrogryposis type 5 (DA5; 108145), which are distinguished by the presence of cleft palate and ocular abnormalities, respectively. McMillin et al. (2014) suggested that the 3 disorders may represent variable expressivity of the same condition.|OMIM|N|
C0796036|A disease with similar features to Marinesco-Sjogren syndrome.|MONDO|N|
C0796037|RAB18 deficiency is the molecular deficit underlying both Warburg micro syndrome (characterized by eye, nervous system, and endocrine abnormalities) and Martsolf syndrome (characterized by similar – but milder – findings). To date Warburg micro syndrome comprises >96% of reported individuals with genetically defined RAB18 deficiency. The hallmark ophthalmologic findings are bilateral congenital cataracts, usually accompanied by microphthalmia, microcornea (diameter <10), and small atonic pupils. Poor vision despite early cataract surgery likely results from progressive optic atrophy and cortical visual impairment. Individuals with Warburg micro syndrome have severe to profound intellectual disability (ID); those with Martsolf syndrome have mild to moderate ID. Some individuals with RAB18 deficiency also have epilepsy. In Warburg micro syndrome, a progressive ascending spastic paraplegia typically begins with spastic diplegia and contractures during the first year, followed by upper-limb involvement leading to spastic quadriplegia after about age five years, often eventually causing breathing difficulties. In Martsolf syndrome infantile hypotonia is followed primarily by slowly progressive lower-limb spasticity. Hypogonadism – when present – manifests in both syndromes, in males as micropenis and/or cryptorchidism and in females as hypoplastic labia minora, clitoral hypoplasia, and small introitus.|GeneReviews|N|
C0796038|Belongs to the group of multiple congenital anomalies/intellectual disabilities syndromes with intellectual deficit, distinctive facies (upward slanting palpebral fissures, squint), kyphoscoliosis, diastasis recti, cryptorchidism, and a congenital heart defect. Autosomal recessive inheritance suggested.|SNOMEDCT_US|N|
C0796045|A rare genetic syndromic intellectual disability characterized by global developmental delay, intellectual disability, infantile or childhood onset of progressive ataxia, and bilateral sensorineural hearing impairment. Variable features include signs of upper and lower motor neuron disease, peripheral neuropathy, myopathic facies, lower limb muscle wasting, and heel contractures. There have been no further descriptions in the literature since 1993.|ORDO|N|
C0796046|Moderate to severe intellectual deficit, seizures, short stature, and skeletal dysplasia. Other manifestations can be associated (retinal abnormalities, brachydactyly, prognathism, dental malocclusion). It is transmitted as an autosomal recessive trait.|SNOMEDCT_US|N|
C0796055|An extremely rare disorder of methionine cycle and sulfur amino acid metabolism with characteristics of increased urine excretion of beta-mercaptolactate-cysteine disulfide (due to deficiency of mercaptopyruvate sulfurtransferase activity in erythrocytes), leading to a positive cyanide nitroprusside test. Association with intellectual disability, congenital lens dislocation, and behavioral abnormalities has been reported, however the causal link remains to be established. There have been no further descriptions in the literature since 1981.|SNOMEDCT_US|N|
C0796056|Ataxia, microcephaly, hypotonia, cataracts, and nystagmus.|JABL|N|
C0796057|A syndrome of mental retardation, short stature, delayed puberty, polydactyly, synmetracarpalia, ocular torticollis, orofacial dysmorphism, and multiple cardiac malformations.|JABL|N|
C0796059|The term '3MC syndrome' encompasses 4 rare autosomal recessive disorders that were previously designated the Carnevale, Mingarelli, Malpuech, and Michels syndromes, respectively. The main features of these syndromes are facial dysmorphism that includes hypertelorism, blepharophimosis, blepharoptosis, and highly arched eyebrows, which are present in 70 to 95% of cases. Cleft lip and palate, postnatal growth deficiency, cognitive impairment, and hearing loss are also consistent findings, occurring in 40 to 68% of cases. Craniosynostosis, radioulnar synostosis, and genital and vesicorenal anomalies occur in 20 to 30% of cases. Rare features include anterior chamber defects, cardiac anomalies, caudal appendage, umbilical hernia (omphalocele), and diastasis recti (summary by Rooryck et al., 2011).
Genetic Heterogeneity of 3MC Syndrome
Also see 3MC syndrome-2 (3MC2; 265050), caused by mutation in the COLEC11 gene (612502), and 3MC syndrome-3 (3MC3; 248340), caused by mutation in the COLEC1 gene (607620).|OMIM|N|
C0796062|This syndrome has manifestations of microcephaly, deafness, intellectual deficit and facial dysmorphism (facial asymmetry, prominent glabella, low-set and cup-shaped ears, protruding lower lip, micrognathia). It has been described in a mother and her son. The mode of inheritance is probably autosomal dominant.|SNOMEDCT_US|N|
C0796063|Jawad syndrome (JWDS) is an autosomal recessive disorder characterized by congenital microcephaly, moderate to severely impaired intellectual development, and digital malformations including phalangeal joint swelling, clinodactyly, polydactyly, syndactyly, and total absence of nails (summary by Qvist et al., 2011).|OMIM|N|
C0796066|A very rare disorder, features include microcephaly, facial dysmorphism (beaked nose, low-set ears, downslanting palpebral fissures, micrognathia), mild intellectual deficit, short stature, and cervical spine fusion anomalies producing spinal cord compression.|SNOMEDCT_US|N|
C0796068|Feingold syndrome is a disorder that affects many parts of the body. There are two types of Feingold syndrome, distinguished by their genetic cause; both types have similar features that can vary among affected individuals.\n\nIndividuals with Feingold syndrome type 1 or type 2 have characteristic abnormalities of their fingers and toes. Almost all people with this condition have a specific hand abnormality called brachymesophalangy, which refers to shortening of the second and fifth fingers. Other common abnormalities include fifth fingers that curve inward (clinodactyly), underdeveloped thumbs (thumb hypoplasia), and fusion (syndactyly) of the second and third toes or the fourth and fifth toes.\n\nPeople with Feingold syndrome type 1 are frequently born with a blockage in part of their digestive system called gastrointestinal atresia. In most cases, the blockage occurs in the esophagus (esophageal atresia) or in part of the small intestine (duodenal atresia). Individuals with type 2 do not have gastrointestinal atresias.\n\nAdditional common features of both types of Feingold syndrome include an unusually small head size (microcephaly), a small jaw (micrognathia), a narrow opening of the eyelids (short palpebral fissures), and mild to moderate learning disabilities. Less often, affected individuals have hearing loss, short stature, or kidney or heart abnormalities.|MedlinePlus Genetics|N|
C0796070|Microphthalmia with linear skin defects (MLS) syndrome is characterized by unilateral or bilateral microphthalmia and/or anophthalmia and linear skin defects, usually involving the face and neck, which are present at birth and heal with age, leaving minimal residual scarring. Other findings can include a wide variety of other ocular abnormalities (e.g., corneal anomalies, orbital cysts, cataracts), central nervous system involvement (e.g., structural anomalies, developmental delay, infantile seizures), cardiac concerns (e.g., hypertrophic or oncocytic cardiomyopathy, atrial or ventricular septal defects, arrhythmias), short stature, diaphragmatic hernia, nail dystrophy, hearing impairment, and genitourinary malformations. Inter- and intrafamilial variability is described.|GeneReviews|N|
C0796072|Mental retardation, retinal pigmentary degeneration, spastic cerebral palsy, and microcephaly with variable expressivity. Mirhosseini-Holmes-Walton and Cohen syndromes share many common characteristics.|JABL|N|
C0796074|Males with deafness-dystonia-optic neuronopathy (DDON) syndrome have prelingual or postlingual sensorineural hearing impairment in early childhood, slowly progressive dystonia or ataxia in the teens, slowly progressive decreased visual acuity from optic atrophy beginning at approximately age 20 years, and dementia beginning at approximately age 40 years. Psychiatric symptoms such as personality change and paranoia may appear in childhood and progress. The hearing impairment appears to be consistent in age of onset and progression, whereas the neurologic, visual, and neuropsychiatric signs vary in degree of severity and rate of progression. Females may have mild hearing impairment and focal dystonia.|GeneReviews|N|
C0796076|Delayed growth and mental development with ocular disorders.|JABL|N|
C0796079|An inborn error of mucopolysaccharide metabolism with glucosamine-6-sulfate sulfatase deficiency and characteristics similar to those of mucopolysaccharidosis II and IV. Delayed physical and mental development, hypertrichosis, hepatosplenomegaly, dysostosis multiplex, and mild deafness are the main symptoms.|JABL|N|
C0796080|A rare intellectual disability syndrome with characteristics of growth retardation, microcephaly, characteristic facial features (including narrow forehead, bushy eyebrows, hypertelorism, small, downward-slanting palpebral fissures with blepharoptosis, malformed and low-set ears, broad straight nose, thin upper lip and a wide, tented mouth), developmental delay, intellectual disability, speech disorder, and multiple organ malformations (e.g. ventricular septal defect, megaloureter, dilated renal pelvis). Additional manifestations reported include neurocutaneous lesions (including palmoplantar hyperkeratosis), internal hydrocephalus, and bilateral partial soft-tissue syndactyly of second and third toe.|SNOMEDCT_US|N|
C0796081|Myhre syndrome is a connective tissue disorder with multisystem involvement, progressive and proliferative fibrosis that may occur spontaneously or following trauma or surgery, mild-to-moderate intellectual disability, and in some instances, autistic-like behaviors. Organ systems primarily involved include: cardiovascular (congenital heart defects, long- and short-segment stenosis of the aorta and peripheral arteries, pericardial effusion, constrictive pericarditis, restrictive cardiomyopathy, and hypertension); respiratory (choanal stenosis, laryngotracheal narrowing, obstructive airway disease, or restrictive pulmonary disease), gastrointestinal (pyloric stenosis, duodenal strictures, severe constipation); and skin (thickened particularly on the hands and extensor surfaces). Additional findings include distinctive craniofacial features and skeletal involvement (intrauterine growth restriction, short stature, limited joint range of motion). To date, 55 individuals with molecularly confirmed Myhre syndrome have been reported.|GeneReviews|N|
C0796083|Syndrome that associates dilated cardiomyopathy with hypergonadotropic hypogonadism. Prevalence is unknown but less than 20 affected families have been described in the literature so far. Occasional findings include a broad nasal base, blepharoptosis, mild intellectual deficit, mild skeletal anomalies and metabolic abnormalities. Mutations in the LMNA gene were recently detected in two sisters with an overlapping clinical phenotype but with additional findings that included a narrow chest, sloping shoulders, aged appearance of the hands and feet and facial dysmorphism (beaked nose and severe retrognathia). Transmission appears to be autosomal recessive.|SNOMEDCT_US|N|
C0796085|Nance-Horan syndrome (NHS) is an X-linked disorder characterized by congenital cataracts, dental anomalies, dysmorphic features, and, in some cases, mental retardation (summary by Burdon et al., 2003).|OMIM|N|
C0796086|The cardinal findings of Neuhauser syndrome, also known as MMR syndrome, are impaired intellectual development or developmental delay, megalocornea, hypotonia, prominent forehead, micrognathia, prominent nasal bridge, and thin upper lip or carp-like mouth (Naritomi et al., 1997).
Reviews
Gutierrez-Amavizca et al. (2013) reviewed published reports and tabulated the clinical features of 35 patients with Neuhauser syndrome. Primary megalocornea and psychomotor delay were present in all patients. Characteristics observed in more than half of patients included hypotonia, growth retardation, abnormal electroencephalography (EEG) and/or seizures, micro- or macrocephaly, brain malformations such as cerebral atrophy and hypoplastic corpus callosum, craniofacial dysmorphisms, cardiac anomalies, osteoarticular abnormalities, and refractive errors. Additional features found at low frequency included primary hypothyroidism, recurrent infections, feeding difficulties, cerebral hypomyelination, dyslipidemia, sensorineural deafness, laryngomalacia, large fleshy and cup-shaped ears, obesity, and cryptorchidism. The authors stated that the classification suggested by Verloes et al. (1993) did not seem to be applicable, and proposed that the diagnosis of Neuhauser syndrome should be made in the presence of intellectual disability and megalocornea in the absence of elevated intraocular pressure, with at least 1 minor feature from among those observed in more than half of patients.|OMIM|N|
C0796088|A multiple developmental anomalies syndrome with characteristics of neurological abnormalities (including megalencephaly, hypotonia, intellectual disability, abnormal EEG), dysmorphic facial features (high prominent forehead, grooved nasal tip, ptosis, ear anomalies) and acrorenal defects (such as triphalangism, broad halluces, unilateral renal agenesis). Additionally, intrauterine growth restriction, short stature and congenital heart defects may be associated. There have been no further descriptions in the literature since 1997.|SNOMEDCT_US|N|
C0796089|Lissencephaly ('smooth brain') is a severe disorder of brain development in which neuronal migration is impaired, leading to a thickened cerebral cortex in which the normally folded contour is simplified and smooth. Lissencephaly-2 (LIS2) is associated with severe abnormalities of the cerebellum and hippocampus (summary by Hong et al., 2000).
For a general phenotypic description and a discussion of genetic heterogeneity of lissencephaly, see LIS1 (607432).|OMIM|N|
C0796092|A rare neurologic disease typically characterized by the triad of eye, central nervous system and skin malformations, and often associated with an intellectual disability.|ORDO|N|
C0796093|Odontoonychodermal dysplasia (OODD) is an autosomal recessive disorder characterized by dry hair, severe hypodontia, smooth tongue with marked reduction of fungiform and filiform papillae, onychodysplasia, hyperkeratosis of the palms and soles, hypo- and hyperhidrosis of the skin, and atrophic patches on the face (summary by Adaimy et al., 2007; Yu et al., 2019).|OMIM|N|
C0796094|A rare multiple congenital malformation syndrome with characteristics of blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability. Abnormal ears, microcephaly, and growth retardation have been reported occasionally. Male patients may show cryptorchidism and scrotal hypoplasia. Most reported cases are sporadic, except the original cases of Ohdo who described two affected sisters and a first cousin, suggesting autosomal recessive inheritance. Autosomal dominant, X-linked- and mitochondrial inheritance have also been suggested.|SNOMEDCT_US|N|
C0796095|The C syndrome, also known as Opitz trigonocephaly syndrome, is a malformation syndrome characterized by trigonocephaly, severe mental retardation, hypotonia, variable cardiac defects, redundant skin, and dysmorphic facial features, including upslanted palpebral fissures, epicanthal folds, depressed nasal bridge, and low-set, posteriorly rotated ears (summary by Kaname et al., 2007).
C syndrome shows phenotypic overlap with Bohring-Opitz syndrome, or C-like syndrome (605039), a disorder with more severe features than C syndrome, caused by heterozygous mutation in the ASXL1 gene (612990) on chromosome 20q11.|OMIM|N|
C0796099|Juberg-Hayward syndrome (JHS) is characterized by cleft lip and palate, rhizomelia of the upper limbs with limited elbow extension due to humeroradial synostosis or dislocation of the radial head, and digital anomalies, including shortened thumbs and index and fifth fingers. Microcephaly has been observed in some patients (Kantaputra et al., 2020).|OMIM|N|
C0796100|Facial asymmetry, pseudocleft lip, lobulated tongue, hydronephrosis, delayed development, and low intelligence.|JABL|N|
C0796101|Other features occur in only one or a few types of oral-facial digital syndrome. These features help distinguish the different forms of the disorder. For example, the most common form of oral-facial-digital syndrome, type I, is associated with polycystic kidney disease. This kidney disease is characterized by the growth of fluid-filled sacs (cysts) that interfere with the kidneys' ability to filter waste products from the blood. Other forms of oral-facial-digital syndrome are characterized by neurological problems, particular changes in the structure of the brain, bone abnormalities, vision loss, and heart defects.\n\nAbnormalities of the digits can affect both the fingers and the toes in people with oral-facial-digital syndrome. These abnormalities include fusion of certain fingers or toes (syndactyly), digits that are shorter than usual (brachydactyly), or digits that are unusually curved (clinodactyly). The presence of extra digits (polydactyly) is also seen in most forms of oral-facial-digital syndrome.\n\nDistinctive facial features often associated with oral-facial-digital syndrome include a split in the lip (a cleft lip); a wide nose with a broad, flat nasal bridge; and widely spaced eyes (hypertelorism).\n\nAbnormalities of the oral cavity that occur in many types of oral-facial-digital syndrome include a split (cleft) in the tongue, a tongue with an unusual lobed shape, and the growth of noncancerous tumors or nodules on the tongue. Affected individuals may also have extra, missing, or defective teeth. Another common feature is an opening in the roof of the mouth (a cleft palate). Some people with oral-facial-digital syndrome have bands of extra tissue (called hyperplastic frenula) that abnormally attach the lip to the gums.\n\nThe signs and symptoms of oral-facial-digital syndrome vary widely. However, most forms of this disorder involve problems with development of the oral cavity, facial features, and digits. Most forms are also associated with brain abnormalities and some degree of intellectual disability.\n\nResearchers have identified at least 13 potential forms of oral-facial-digital syndrome. The different types are classified by their patterns of signs and symptoms. However, the features of the various types overlap significantly, and some types are not well defined. The classification system for oral-facial-digital syndrome continues to evolve as researchers find more affected individuals and learn more about this disorder.\n\nOral-facial-digital syndrome is actually a group of related conditions that affect the development of the oral cavity (the mouth and teeth), facial features, and digits (fingers and toes).|MedlinePlus Genetics|N|
C0796102|Syndrome with characteristics of highly arched palate with bifid tongue and bilateral supernumerary lower canines, hamartomatous tongue, multiple frenula, hypertelorism, telecanthus, strabismus, broad and/or bifid nasal tip, short stature, bifid hallux, forked metatarsal, poly and syndactyly, mild intellectual deficit and specific retinal abnormalities (bilateral optic disc coloboma and retinal dysplasia with partial detachment). Less than ten cases have been described in the literature. The causative gene has not yet been identified.|SNOMEDCT_US|N|
C0796110|A rare multiple congenital anomalies/dysmorphic syndrome with characteristics of moderate to severe intellectual disability, neurologic signs and symptoms (such as seizures, spasticity, strabismus), characteristic dysmorphic facial features (including broad forehead, hypertelorism, downslanting palpebral fissures, broad and flat nasal bridge, midline notch of upper lip, lack of upper central incisors, incomplete oral cleft, and prominent mandible), and acne scars. Hearing impairment, pseudo-bulbar palsy, growth retardation, and skeletal anomalies (camptodactyly, clinodactyly, bilateral cubitus valgus, pes cavus/planus) has also been described.|SNOMEDCT_US|N|
C0796113|Perlman syndrome (PRLMNS) is an autosomal recessive congenital overgrowth syndrome with similarities to Beckwith-Wiedemann syndrome (BWS; 130650). Affected children are large at birth, are hypotonic, and show organomegaly, characteristic facial dysmorphisms (inverted V-shaped upper lip, prominent forehead, deep-set eyes, broad and flat nasal bridge, and low-set ears), renal anomalies (nephromegaly and hydronephrosis), frequent neurodevelopmental delay, and high neonatal mortality. Perlman syndrome is associated with a high risk of Wilms tumor, with a 64% incidence in infants surviving beyond the neonatal period. The tumor is diagnosed at an earlier age in these individuals compared with sporadic cases (less than 2 years and 3-4 years of age, respectively), and there is a high frequency of bilateral tumors (55%). Histologic examination of the kidneys in children with Perlman syndrome shows frequent nephroblastomatosis, which is a precursor lesion for Wilms tumor (summary by Astuti et al., 2012).|OMIM|N|
C0796117|A syndrome that is considered as part of the spectrum of Wolf-Hirschhorn Syndrome variability. It maps to the short arm of chromosome 4, at 4p16.|MSH|N|
C0796118|An association of skeletal abnormalities with facial dysmorphism, neonatal respiratory disorders, and feeding problems due to poor suck. Metaphyseal splying, osteopenia, endosteal bone apposition, campomelia, and multiple fractures comprise skeletal abnormalities. The syndrome was originally reported in two siblings, one of whom had a mild developmental delay and other died in infancy. The proposed name ""pointer syndrome"" is based on pointing appearance of the index fingers in both patients and their family.|JABL|N|
C0796119|A rare central nervous system malformation syndrome with characteristics of bilateral porencephaly, absence of the septum pellucidum and cerebellar hypoplasia with absent vermis. Additionally, dysmorphic facial features (hypertelorism, epicanthic folds, high arched palate, prominent metopic suture), macrocephaly, corneal clouding, situs inversus, tetralogy of Fallot, atrial septal defects and/or seizures have been observed.|SNOMEDCT_US|N|
C0796121|Primrose syndrome is characterized by macrocephaly, hypotonia, developmental delay, intellectual disability with expressive speech delay, behavioral issues, a recognizable facial phenotype, radiographic features, and altered glucose metabolism. Additional features seen in adults: sparse body hair, distal muscle wasting, and contractures. Characteristic craniofacial features include brachycephaly, high anterior hairline, deeply set eyes, ptosis, downslanted palpebral fissures, high palate with torus palatinus, broad jaw, and large ears with small or absent lobes. Radiographic features include calcification of the external ear cartilage, multiple Wormian bones, platybasia, bathrocephaly, slender bones with exaggerated metaphyseal flaring, mild epiphyseal dysplasia, and spondylar dysplasia. Additional features include hearing impairment, ocular anomalies, cryptorchidism, and nonspecific findings on brain MRI.|GeneReviews|N|
C0796123|A rare genetic disease characterized by mild intellectual deficit, congenital cataract, progressive sensorineural hearing impairment, ataxia, peripheral neuropathy, and short stature. There have been no further descriptions in the literature since 1991.|ORDO|N|
C0796124|Proud syndrome is an X-linked developmental disorder characterized by agenesis of the corpus callosum, severe mental retardation, seizures, and spasticity. Males are severely affected, whereas females may be unaffected or have a milder phenotype (Proud et al., 1992). Proud syndrome is part of a phenotypic spectrum of disorders caused by mutation in the ARX gene comprising a nearly continuous series of developmental disorders ranging from lissencephaly (LISX2; 300215) to Proud syndrome to infantile spasms without brain malformations (DEE1; 308350) to syndromic (309510) and nonsyndromic (300419) mental retardation (Kato et al., 2004; Wallerstein et al., 2008).|OMIM|N|
C0796125|Syndrome with characteristics of intellectual deficit associated with progressive spastic quadriplegia, microcephaly, and glaucoma, absence of the eyebrows and eyelashes, and a malformation of the nose. It has been described in two brothers.|SNOMEDCT_US|N|
C0796126|Most characteristically, Aicardi-Goutières syndrome (AGS) manifests as an early-onset encephalopathy that usually, but not always, results in severe intellectual and physical disability. A subgroup of infants with AGS present at birth with abnormal neurologic findings, hepatosplenomegaly, elevated liver enzymes, and thrombocytopenia, a picture highly suggestive of congenital infection. Otherwise, most affected infants present at variable times after the first few weeks of life, frequently after a period of apparently normal development. Typically, they demonstrate the subacute onset of a severe encephalopathy characterized by extreme irritability, intermittent sterile pyrexias, loss of skills, and slowing of head growth. Over time, as many as 40% develop chilblain skin lesions on the fingers, toes, and ears. It is becoming apparent that atypical, sometimes milder, cases of AGS exist, and thus the true extent of the phenotype associated with pathogenic variants in the AGS-related genes is not yet known.|GeneReviews|N|
C0796133|A rare, genetic, primary bone dysplasia syndrome characterized by bilateral, painless swelling of the face extending from the mandible to the inferior orbital margins (cherubism), epilepsy, gingival fibromatosis (possibly obscuring teeth), and intellectual disability. Other associated variable features include hypertrichosis, stunted growth, juvenile rheumatoid arthritis, and development of ocular abnormalities (e.g. pigmentary retinopathy, optic disc pallor, Axenfeld anomaly). Radiological images typically show bilateral multifocal radiolucency involving the body, angle and ramus of the mandible and coronoid process.|ORDO|N|
C0796135|Renpenning syndrome is an X-linked mental retardation syndrome with clinically recognizable features. Affected individuals have microcephaly, short stature, small testes, and dysmorphic facies, including tall narrow face, upslanting palpebral fissures, abnormal nasal configuration, cupped ears, and short philtrum. The nose may appear long or bulbous, with overhanging columella. Less consistent manifestations include ocular colobomas, cardiac malformations, cleft palate, and anal anomalies. Stevenson et al. (2005) proposed that the various X-linked mental retardation syndromes due to PQBP1 mutations be combined under the name of Renpenning syndrome.|OMIM|N|
C0796136|An extremely rare neurodegenerative disorder characterised by progressive spinocerebellar ataxia, sensorineural hearing loss, and hypergonadotropic hypogonadism associated with additional neurological manifestations (such as peripheral muscle wasting, nystagmus, intellectual disability or dementia) and ketoaciduria.|SNOMEDCT_US|N|
C0796137|The 3C syndrome, also known as Ritscher-Schinzel syndrome, is a developmental malformation syndrome characterized by craniofacial abnormalities, congenital heart defects, and cerebellar brain malformations. Facial features include prominent occiput, prominent forehead, low-set ears, downslanting palpebral fissures, depressed nasal bridge, and micrognathia. Cardiac defects can include septal defects and aortic stenosis, among others, and brain imaging shows Dandy-Walker malformation, cerebellar vermis hypoplasia, posterior fossa cysts, and ventricular dilatation. Affected individuals have delayed psychomotor development (summary by Leonardi et al., 2001; Elliott et al., 2013).
Genetic Heterogeneity of Ritscher-Schinzel Syndrome
See also RTSC2 (300963), caused by mutation in the CCDC22 gene (300859) on chromosome Xp11; RTSC3 (619135), caused by mutation in the VPS35L gene (618981) on chromosome 16p12; and RTSC4 (619435), caused by mutation in the DPYSL5 gene (608383) on chromosome 2p23.|OMIM|N|
C0796139|A rare congenital ectodermal dysplasia syndrome with a range of signs and symptoms including cleft lip or palate, mental retardation and various forms of ectodermal dysplasia. Additional symptoms may include fused eyelids, absent nails, delayed bone growth and dry skin. It is believed that this syndrome follows an autosomal dominant pattern of inheritance with incomplete penetrance, and caused by a mutation affecting the TP63 gene|MONDO|N|
C0796140|Oculodental syndrome, Rutherfurd type is a rare genetic disorder that is primarily characterized by the classical triad of gingival fibromatosis, non-eruption of tooth and corneal dystrophy (bilateral corneal vascularization and opacity). Abnormally shaped teeth have also been reported. The syndrome is transmitted as an autosomal dominant trait.|ORDO|N|
C0796142|The Richieri-Costa/Guion-Almeida syndrome is characterized by mild mental retardation, short stature, microbrachycephaly, ptosis, esotropia, cleft lip/palate (Richieri-Costa and Guion-Almeida, 1992).|OMIM|N|
C0796147|Classic Joubert syndrome (JS) is characterized by three primary findings: A distinctive cerebellar and brain stem malformation called the molar tooth sign (MTS). Hypotonia. Developmental delays. Often these findings are accompanied by episodic tachypnea or apnea and/or atypical eye movements. In general, the breathing abnormalities improve with age, truncal ataxia develops over time, and acquisition of gross motor milestones is delayed. Cognitive abilities are variable, ranging from severe intellectual disability to normal. Additional findings can include retinal dystrophy, renal disease, ocular colobomas, occipital encephalocele, hepatic fibrosis, polydactyly, oral hamartomas, and endocrine abnormalities. Both intra- and interfamilial variation are seen.|GeneReviews|N|
C0796149|Scott syndrome (SCTS) is a mild platelet-type bleeding disorder characterized by impaired surface exposure of procoagulant phosphatidylserine (PS) on platelets and other blood cells, following activation with Ca(2+)-elevating agents (Munnix et al., 2003).|OMIM|N|
C0796154|Simpson-Golabi-Behmel syndrome type 1 (SGBS1) is characterized by pre- and postnatal macrosomia; distinctive craniofacial features (including macrocephaly, coarse facial features, macrostomia, macroglossia, and palatal abnormalities); and commonly, mild-to-severe intellectual disability with or without structural brain anomalies. Other variable findings include supernumerary nipples, diastasis recti / umbilical hernia, congenital heart defects, diaphragmatic hernia, genitourinary defects, and gastrointestinal anomalies. Skeletal anomalies can include vertebral fusion, scoliosis, rib anomalies, and congenital hip dislocation. Hand anomalies can include large hands and postaxial polydactyly. Affected individuals are at increased risk for embryonal tumors including Wilms tumor, hepatoblastoma, adrenal neuroblastoma, gonadoblastoma, hepatocellular carcinoma, and medulloblastoma.|GeneReviews|N|
C0796159|A rare syndrome of microcephaly, unusual facies, short stature, mental deficiency, and other dysmorphic features.|JABL|N|
C0796160|Snyder-Robinson syndrome (SRS) is an X-linked intellectual disability syndrome characterized by asthenic build, facial dysmorphism with a prominent lower lip, kyphoscoliosis, osteoporosis, speech abnormalities, and seizures. Developmental delay usually presents as failure to meet early developmental milestones and then evolves to moderate to profound intellectual disability (which appears to remain stable over time) and variable motor disability. Asthenic habitus and low muscle mass usually develop during the first year, even in males who are ambulatory. During the first decade, males with SRS develop osteoporosis, resulting in fractures in the absence of trauma.|GeneReviews|N|
C0796162|A very rare syndrome described in three siblings of one Japanese family with main features of congenital heart disease, round face with depressed nasal bridge, small mouth, short stature, and relatively dark skin and typical dermatoglyphic anomalies, and intellectual deficit.|SNOMEDCT_US|N|
C0796166|Syndrome that is marked by characteristic facies associated with dysarthria, delayed psychomotor development, ataxia, scoliosis and foot deformities. Three cases have been described and transmission appears to be autosomal recessive.|SNOMEDCT_US|N|
C0796172|A rare primary bone dysplasia disorder with characteristics of severe short stature, coarse facies, thoracolumbar kyphoscoliosis and enlarged joints with contractures. Psychomotor delay and intellectual disability may also be associated. Radiographic features include flat vertebral bodies, lacy ossification of the metaphyses of long bones and iliac crests, and marked sclerosis of the skull base.|SNOMEDCT_US|N|
C0796173|Spondyloperipheral dysplasia is a disorder that impairs bone growth.  This condition is characterized by flattened bones of the spine (platyspondyly) and unusually short fingers and toes (brachydactyly), with the exception of the first (big) toes. Other skeletal abnormalities associated with spondyloperipheral dysplasia include short stature, shortened long bones of the arms and legs, exaggerated curvature of the lower back (lordosis), and an inward- and upward-turning foot (clubfoot).  Additionally, some affected individuals have nearsightedness (myopia), hearing loss, and intellectual disability.|MedlinePlus Genetics|N|
C0796176|Stüve-Wiedemann syndrome is a severe condition characterized by bone abnormalities and dysfunction of the autonomic nervous system, which controls involuntary body processes such as the regulation of breathing rate and body temperature. The condition is apparent from birth, and its key features include abnormal curvature (bowing) of the long bones in the legs, difficulty feeding and swallowing, and episodes of dangerously high body temperature (hyperthermia).\n\nIn addition to bowed legs, affected infants can have bowed arms, permanently bent fingers and toes (camptodactyly), and joint deformities (contractures) in the elbows and knees that restrict their movement. Other features include abnormalities of the pelvic bones (the ilia) and reduced bone mineral density (osteopenia).\n\nIn infants with Stüve-Wiedemann syndrome, dysfunction of the autonomic nervous system typically leads to difficulty feeding and swallowing, breathing problems, and episodes of hyperthermia. Affected infants may also sweat excessively, even when the body temperature is not elevated, or have a reduced ability to feel pain. Many babies with this condition do not survive past infancy because of the problems regulating breathing and body temperature; however, some people with Stüve-Wiedemann syndrome live into adolescence or later.\n\nProblems with breathing and swallowing usually improve in affected children who survive infancy; however, they still have difficulty regulating body temperature. In addition, the leg bowing worsens, and children with Stüve-Wiedemann syndrome may develop prominent joints, an abnormal curvature of the spine (scoliosis), and spontaneous bone fractures. Some affected individuals have a smooth tongue that lacks the bumps that house taste buds (fungiform papillae). Affected children may also lose certain reflexes, particularly the reflex to blink when something touches the eye (corneal reflex) and the knee-jerk reflex (patellar reflex).\n\nAnother condition once known as Schwartz-Jampel syndrome type 2 is now considered to be part of Stüve-Wiedemann syndrome. Researchers have recommended that the designation Schwartz-Jampel syndrome type 2 no longer be used.|MedlinePlus Genetics|N|
C0796179|A rare genetic disease with characteristics of hypertelorism with facial features that can closely resemble craniofrontonasal dysplasia, such as prominent forehead, widow''s peak, heavy and broad eyebrows, long palpebral fissures, ptosis, high and broad nasal bridge, short nose, low-set ears, natal teeth, thin upper lip and a grooved chin. Limb features include fifth-finger clinodactyly, pes adductus, mild interdigital webbing. Urogenital features include bilateral cryptorchidism and shawl scrotum in males. Other manifestations include umbilical hernia/omphalocele and cardiac defects. Psychomotor development is normal.|SNOMEDCT_US|N|
C0796182|A rare variant of frontonasal dysplasia with characteristics of distinct craniofacial (large fontanelle, hypertelorism, bifid nasal tip, nasal clefting, brachycephaly, median cleft face, carp-shaped mouth), brain (interhemispheric lipoma, agenesis of the corpus callosum), and limb (tibial hypoplasia/aplasia, club foot, symmetric preaxial polydactyly of the feet and bilateral clubbed and thickened nail) malformations, as well as intellectual disability.|SNOMEDCT_US|N|
C0796184|Toriello-Carey syndrome is a multiple congenital anomaly disorder with variable systemic manifestations, most commonly including mental retardation, agenesis of the corpus callosum, postnatal growth delay, cardiac defects, usually septal defects, distal limb defects, and urogenital anomalies in affected males. Patients have facial dysmorphic features, micrognathia, including full cheeks, hypertelorism, flattened nasal bridge, anteverted nares, and short neck. Not all features are found in all patients and some patients may have additional features such as anal anomalies or hernias (summary by Toriello et al., 2003).
In a review of the Toriello-Carey syndrome, Toriello et al. (2016) stated that while corpus callosum abnormalities and micrognathia with highly arched or cleft palate are seen in most patients, other manifestations are widely variable. They noted that etiologic heterogeneity has been observed in reported patients, with at least 20% of patients having chromosome anomalies, and that no good candidate genes have been identified by exome sequencing. The authors commented that this condition might not be a unitary diagnostic entity. They recommended chromosome microarray for any child suspected of having the condition, followed by standard of care by genetic testing.|OMIM|N|
C0796189|This syndrome has characteristics of intellectual deficit, short stature, obesity, genital abnormalities, and hand and/or toe contractures. It has been described in two brothers and in one isolated case. This syndrome is similar to Prader-Willi syndrome, but the hand contractures and osteoporosis, together with the lack of hypotonia, indicate this is a different entity.|SNOMEDCT_US|N|
C0796192|Syndrome that is characterised by intellectual deficit, choroideraemia, acrokeratosis verruciformis, anhidrosis, and skeletal deformities. It has been observed in a single kindred. The syndrome is transmitted as an X-linked recessive trait and may be caused by a small X-chromosome deletion.|SNOMEDCT_US|N|
C0796195|Waisman syndrome is an X-linked neurologic disorder characterized by delayed psychomotor development, impaired intellectual development, and early-onset Parkinson disease (summary by Wilson et al., 2014).|OMIM|N|
C0796197|A rare otorhinolaryngological malformation syndrome with characteristics of a distinctive mask-like facial dysmorphism, lacrimal duct obstruction, extrapyramidal features, digital malformations and intellectual disability. Reported in 3 families to date. The facies has a mask-like appearance due to weakness of facial muscles and lacrimal duct obstruction is characteristic. Clinical features also include telecanthus, bulky nose, broad nasal bridge, sometimes a hypoplastic midface, longitudinal cheek furrows, trapezoidal upper lip and malformation of the ears. Intellectual disability, cutaneous syndactyly, torsion dystonia, increased deep tendon reflexes; Babinski sign, poor coordination and joint laxity are also observed.|SNOMEDCT_US|N|
C0796198|A multiple congenital anomalies syndrome with characteristics of moderate-to-severe intellectual disability, decreased muscle mass, microcephaly, facial dysmorphism (prominent ears, midfacial hypoplasia, small mouth and cleft palate), clinodactyly of the fingers, delayed osseous maturation and general bone hypoplasia. The syndrome has been described in a brother and sister and an autosomal recessive mode of inheritance has been suggested. There have been no further descriptions in the literature since 1977.|SNOMEDCT_US|N|
C0796200|Wieacker-Wolff syndrome (WRWF) is a severe X-linked recessive neurodevelopmental disorder affecting the central and peripheral nervous systems. It is characterized by onset of muscle weakness in utero (fetal akinesia), which results in arthrogryposis multiplex congenita (AMC) apparent at birth. Affected boys are born with severe contractures, show delayed motor development, facial and bulbar weakness, characteristic dysmorphic facial features, and skeletal abnormalities, such as hip dislocation, scoliosis, and foot deformities. Additional features include global developmental delay with poor or absent speech and impaired intellectual development, feeding difficulties and poor growth, hypotonia, hypogenitalism, and spasticity. Carrier females may be unaffected or have mild features of the disorder (summary by Hirata et al., 2013 and Frints et al., 2019).|OMIM|N|
C0796202|Mental retardation with multiple congenital abnormalities consisting of craniofacial anomalies, delayed development, skeletal anomalies, urogenital anomalies, and deformed hands.|JABL|N|
C0796203|This syndrome is characterized by microcephaly, severe intellectual deficit, phalangeal anomalies (cutaneous syndactyly of the fingers, toe brachyclinodactyly and nail hypoplasia) and neurological manifestations (epilepsy, spastic/dystonic paraplegia and brisk reflexes).|MONDO|N|
C0796204|A form of cerebral palsy with characteristics of congenital pseudobulbar (suprabulbar) paresis manifesting as selective weakness of the lips, tongue and soft palate, dysphagia, dysphonia, drooling and jaw jerking. Mean age at diagnosis is 6 years. The main clinical features are spasticity and limited movements around the mouth and throat from an early age, and brisk jaw jerks. Most cases are sporadic but several families with more than one affected member have been reported. Inheritance in these families appeared to follow an autosomal dominant pattern with variable expression and penetrance.|SNOMEDCT_US|N|
C0796205|SCAX1 is an X-linked recessive neurologic disorder characterized by hypotonia at birth, delayed motor development, gait ataxia, difficulty standing, dysarthria, and slow eye movements. Brain MRI shows cerebellar ataxia (summary by Bertini et al., 2000).
Genetic Heterogeneity of X-linked Spinocerebellar Ataxia
X-linked recessive spinocerebellar ataxia (SCAX) is a clinically and genetically heterogeneous disorder. See also SCAX2 (302600), SCAX3 (301790), SCAX4 (301840), and SCAX5 (300703).|OMIM|N|
C0796206|Atkin-Flaitz syndrome has characteristics of moderate to severe intellectual deficit, short stature, macrocephaly, and characteristic facies. It has been described in 11 males and three females from three successive generations of the same family. The males also presented with postpubertal macroorchidism. Transmission is X-linked.|SNOMEDCT_US|N|
C0796207|Nonsyndromic mental retardation with a large head, relatively short stature, highly arched palate, square facies, short hands and feet, and macroorchidism.|JABL|N|
C0796208|Disorders of intracellular cobalamin metabolism have a variable phenotype and age of onset that are influenced by the severity and location within the pathway of the defect. The prototype and best understood phenotype is cblC; it is also the most common of these disorders. The age of initial presentation of cblC spans a wide range: In utero with fetal presentation of nonimmune hydrops, cardiomyopathy, and intrauterine growth restriction. Newborns, who can have microcephaly, poor feeding, and encephalopathy. Infants, who can have poor feeding and slow growth, neurologic abnormality, and, rarely, hemolytic uremic syndrome (HUS). Toddlers, who can have poor growth, progressive microcephaly, cytopenias (including megaloblastic anemia), global developmental delay, encephalopathy, and neurologic signs such as hypotonia and seizures. Adolescents and adults, who can have neuropsychiatric symptoms, progressive cognitive decline, thromboembolic complications, and/or subacute combined degeneration of the spinal cord.|GeneReviews|N|
C0796215|X-linked intellectual developmental disorder-9 (XLID9) is characterized by moderately to severely impaired intellectual development. Some patients have also been reported with delayed motor development, seizures, and/or behavioral problems (Hamel et al., 1999; Froyen et al., 2007).|OMIM|N|
C0796218|X-linked intellectual developmental disorder-12 (XLID12) is characterized by borderline to severe intellectual disability with variable neurologic features, short stature, and elevated body mass index (BMI) (Kumar et al., 2015).|OMIM|N|
C0796220|Nonsyndromic mental retardation with inconsistent abnormalities.|JABL|N|
C0796221|CLCN4-related neurodevelopmental disorder (CLCN4-NDD), an X-linked disorder, is characterized in the 36 males reported to date by developmental delay or intellectual disability, behavioral/mental health issues (e.g., autism spectrum disorder, anxiety, hyperactivity, and bipolar disorder), epilepsy, and gastrointestinal dysfunction. The five heterozygous females with a de novo
CLCN4 variant reported to date had findings very similar to those of affected males. Twenty-two of 25 heterozygous females identified in family studies following identification of an affected male were unaffected or had only mild specific learning difficulties and/or mental health concerns, whereas three were more severely affected.|GeneReviews|N|
C0796222|The spectrum of MECP2-related phenotypes in females ranges from classic Rett syndrome to variant Rett syndrome with a broader clinical phenotype (either milder or more severe than classic Rett syndrome) to mild learning disabilities; the spectrum in males ranges from severe neonatal encephalopathy to pyramidal signs, parkinsonism, and macroorchidism (PPM-X) syndrome to severe syndromic/nonsyndromic intellectual disability. Females: Classic Rett syndrome, a progressive neurodevelopmental disorder primarily affecting girls, is characterized by apparently normal psychomotor development during the first six to 18 months of life, followed by a short period of developmental stagnation, then rapid regression in language and motor skills, followed by long-term stability. During the phase of rapid regression, repetitive, stereotypic hand movements replace purposeful hand use. Additional findings include fits of screaming and inconsolable crying, autistic features, panic-like attacks, bruxism, episodic apnea and/or hyperpnea, gait ataxia and apraxia, tremors, seizures, and acquired microcephaly. Males: Severe neonatal-onset encephalopathy, the most common phenotype in affected males, is characterized by a relentless clinical course that follows a metabolic-degenerative type of pattern, abnormal tone, involuntary movements, severe seizures, and breathing abnormalities. Death often occurs before age two years.|GeneReviews|N|
C0796223|Nonsyndromic mental retardation.|JABL|N|
C0796225|X-linked intellectual development disorder-19 (XLID19) is characterized by mildly to moderately impaired intellectual development. Carrier females may be mildly affected. Mutation in the RPS6KA3 gene also causes Coffin-Lowry syndrome (CLS; 303600), a syndrome with impaired intellectual deveopment, dysmorphic facial features, and skeletal anomalies. Some patients with RPS6KA3 mutations have an intermediate phenotype with impaired intellectual development and only mild anomalies reminiscent of CLS. These individuals have mutations resulting in some residual protein function, which likely explains the milder phenotype (summary by Field et al., 2006).|OMIM|N|
C0796226|Impaired mental functioning occurs as an isolated feature or as part of many syndromes listed in the X-linked catalog. Impaired intellectual development that is not associated with other distinguishing features is referred to as 'nonspecific.'
The Human Gene Mapping Nomenclature Committee (Mulley et al., 1992) proposed to designate each newly reported apparently unique X-linked mental retardation (MRX) family with gene symbols (e.g., MRX1, MRX2) if a minimal lod score of 2.0 was demonstrated between the MR locus and one or more X chromosome markers.|OMIM|N|
C0796229|Nonsyndromic mental retardation with speech disorders.|JABL|N|
C0796232|Bohring-Opitz syndrome (BOS) is characterized by distinctive facial features and posture, growth failure, variable but usually severe intellectual disability, and variable anomalies. The facial features may include microcephaly or trigonocephaly / prominent (but not fused) metopic ridge, hypotonic facies with full cheeks, synophrys, glabellar and eyelid nevus flammeus (simplex), prominent globes, widely set eyes, palate anomalies, and micrognathia. The BOS posture, which is most striking in early childhood and often becomes less apparent with age, is characterized by flexion at the elbows with ulnar deviation and flexion of the wrists and metacarpophalangeal joints. Feeding difficulties in early childhood, including cyclic vomiting, have a significant impact on overall health; feeding tends to improve with age. Seizures are common and typically responsive to standard epileptic medications. Minor cardiac anomalies and transient bradycardia and apnea may be present. Affected individuals may experience recurrent infections, which also tend to improve with age. Isolated case reports suggest that individuals with BOS are at greater risk for Wilms tumor than the general population, but large-scale epidemiologic studies have not been conducted.|GeneReviews|N|
C0796237|Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the PAK3 gene.|MONDO|N|
C0796238|Nonsyndromic mental retardation with delayed speech development and occasional strabismus and single palmar creases.|JABL|N|
C0796241|Nonsyndromic mental retardation.|JABL|N|
C0796242|Nonsyndromic mental retardation associated with relative macrocephaly, broad and high forehead, round face, flat nasal bridge, obesity, and hyperactivity.|JABL|N|
C0796244|Intellectual developmental disorder-29 (XLID29) is a nonspecific form of XLID. It is part of a phenotypic spectrum of disorders caused by mutation in the ARX gene comprising a nearly continuous series of developmental disorders ranging from lissencephaly (LISX2; 300215) to Proud syndrome (300004) to infantile spasms without brain malformations (DEE1; 308350) to Partington syndrome (309510) (Kato et al., 2004; Wallerstein et al., 2008).|OMIM|N|
C0796249|Nonsyndromic moderate to severe mental retardation without any clinical manifestations.|JABL|N|
C0796250|Partington syndrome (PRTS) is an X-linked developmental disorder characterized by impaired intellectual development and variable movement disturbances. Partington syndrome is part of a phenotypic spectrum of disorders caused by mutation in the ARX gene comprising a nearly continuous series of developmental disorders ranging from hydranencephaly and lissencephaly (LISX2; 300215) to Proud syndrome (300004) to infantile spasms without brain malformations (see 308350) to nonsyndromic intellectual disability (300419). Although males with ARX mutations are often more severely affected, female mutation carriers may also be affected (Kato et al., 2004; Wallerstein et al., 2008).|OMIM|N|
C0796254|X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (XDIBS), or Pettigrew syndrome is a central nervous system malformation characterized by severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead), and brain imaging abnormalities such as Dandy-Walker malformation, and iron deposition. (From Mondo:0010574)|NCBI curation|N|
C0796264|A rare X-linked intellectual disability syndrome with characteristics of intellectual disability associated with short stature, obesity, primary hypogonadism and an ichthyosiform skin condition. There have been no further descriptions in the literature since 1982.|SNOMEDCT_US|N|
C0796271|The principal features of Sabinas brittle hair syndrome, a form of nonphotosensitive trichothiodystrophy (TTDN; see 234050), include congenital hypotrichosis, mild to moderate onychodysplasia, varying mental retardation, and sterility. Ocular dysplasias are sometimes present and dentition is normal (Howell et al., 1980).|OMIM|N|
C0796274|Brown-Vialetto-Van Laere syndrome is a rare autosomal recessive neurologic disorder characterized by sensorineural hearing loss and a variety of cranial nerve palsies, usually involving the motor components of the seventh and ninth to twelfth (more rarely the third, fifth, and sixth) cranial nerves. Spinal motor nerves and, less commonly, upper motor neurons are sometimes affected, giving a picture resembling amyotrophic lateral sclerosis (ALS; 105400). The onset of the disease is usually in the second decade, but earlier and later onset have been reported. Hearing loss tends to precede the onset of neurologic signs, mostly progressive muscle weakness causing respiratory compromise. However, patients with very early onset may present with bulbar palsy and may not develop hearing loss until later. The symptoms, severity, and disease duration are variable (summary by Green et al., 2010).
Genetic Heterogeneity of Brown-Vialetto-Van Laere Syndrome
See also BVVLS2 (614707), caused by mutation in the SLC52A2 gene (607882) on chromosome 8q.|OMIM|N|
C0796275|Brunner syndrome is a recessive X-linked disorder characterized by impulsive aggressiveness and mild mental retardation associated with MAOA deficiency (Brunner et al., 1993).|OMIM|N|
C0796276|A syndrome of craniosynostosis, limb abnormalities, brevicollis, micrognathia, pulmonary stenosis, and genital defects.|JABL|N|
C0796279|The term '3MC syndrome' encompasses 4 rare autosomal recessive disorders that were previously designated the Carnevale, Mingarelli, Malpuech, and Michels syndromes, respectively. The main features of these syndromes are facial dysmorphism that includes hypertelorism, blepharophimosis, blepharoptosis, and highly arched eyebrows, which are present in 70 to 95% of cases. Cleft lip and palate, postnatal growth deficiency, cognitive impairment, and hearing loss are also consistent findings, occurring in 40 to 68% of cases. Craniosynostosis, radioulnar synostosis, and genital and vesicorenal anomalies occur in 20 to 30% of cases. Rare features include anterior chamber defects, cardiac anomalies, caudal appendage, umbilical hernia (omphalocele), and diastasis recti (summary by Rooryck et al., 2011).
For a discussion of genetic heterogeneity of 3MC syndrome, see 3MC1 (257920).|OMIM|N|
C0796280|Acromegaloid facial appearance (AFA) syndrome is a multiple congenital anomalies/dysmorphic syndrome with a probable autosomal dominant inheritance, characterized by a progressively coarse acromegaloid-like facial appearance with thickening of the lips and intraoral mucosa, large and doughy hands and, in some cases, developmental delay. AFA syndrome appears to be part of a phenotypic spectrum that includes hypertrichotic osteochondrodysplasia, Cantu type and hypertrichosis-acromegaloid facial appearance syndrome.|MONDO|N|
C0796282|This syndrome is characterized by congenital cataract, generalized hypertrichosis and intellectual deficit. It has been described in two Egyptian siblings born to consanguineous parents. It is transmitted as an autosomal recessive trait.|SNOMEDCT_US|N|
C0796290|Autosomal recessive form of acrorenal syndrome.|MONDO|N|
C0796292|Stage II: Involvement of two or more lymph node regions on the same side of the diaphragm (II) or localized involvement of a single associated extralymphatic organ or site and its regional lymph nodes with or without other lymph node regions on the same side of the diaphragm (IIE). Note: The number of lymph node regions involved may be indicated by a subscript (e.g., II3). (from PDQ)|NCI|N|
C0796293|Stage II: Involvement of two or more lymph node regions on the same side of the diaphragm (II) or localized involvement of a single associated extralymphatic organ or site and its regional lymph nodes with or without other lymph node regions on the same side of the diaphragm (IIE). Note: The number of lymph node regions involved may be indicated by a subscript (e.g., II3). (from PDQ)|NCI|N|
C0796418|Optic pathway glioma (OPG) is a benign tumor that develop along the optic nerve (chiasm, tracts, and radiations) characterized by impairment or loss of vision and may be accompanied by diencephalic symptoms such as reduced growth and alteration in sleeping patterns. OPG are often linked to neurofibromatosis type 1 (NF1, see this term).|ORDO|N|
C0796430|A neoplasm of the choroid plexus occurring in adults.|NCI|N|
C0796466|Refractory cytopenias with multilineage dysplasia (RCMD) is a frequent subtype of myelodysplastic syndrome (MDS; see this term) characterized by 1 or more cytopenias in the peripheral blood and dysplasia in 2 or more myeloid lineages.|ORDO|N|
C0796528|A childhood rhabdomyosarcoma for which a patient has received treatment in the past.|NCI|N|
C0796547|A small round cell tumor with or without neural differentiation that is confined to a specific site without evidence of spread to other anatomic sites.|NCI|N|
C0796549|The reemergence of a malignant small round cell tumor with or without neural differentiation after a period of remission.|NCI|N|
C0796563|A malignant neoplasm that is confined to a specific site without evidence of spread to other anatomic sites.|NCI|N|
C0796611|A recently diagnosed ependymoma during childhood.|NCI|N|
C0796612|The reemergence of ependymoma in childhood after a period of remission.|NCI|N|
C0796618|Stage IB includes: (T2a, N0, M0, G1, GX); (T2b, N0, M0, G1, GX). T2a: Superficial tumor more than 5 cm in greatest dimension. T2b: Deep tumor more than 5 cm in greatest dimension. N0: No regional lymph node metastasis. M0: No distant metastasis. G1: Grade 1. GX: Grade cannot be assessed. (AJCC 7th ed.)|NCI|N|
C0796619|Stage IIA includes: (T1a, N0, M0, G2, G3); (T1b, N0, M0, G2, G3). T1a: Superficial tumor 5 cm or less in greatest dimension. T1b: Deep tumor 5 cm or less in greatest dimension. N0: No regional lymph node metastasis. M0: No distant metastasis. G2: Grade 2. G3: Grade 3. (AJCC 7th ed.)|NCI|N|
C0796620|Stage IIB includes: (T2a, N0, M0, G2); (T2b, N0, M0, G2). T2a: Superficial tumor more than 5 cm in greatest dimension. T2b: Deep tumor more than 5 cm in greatest dimension. N0: No regional lymph node metastasis. M0: No distant metastasis. G2: Grade 2. (AJCC 7th ed.)|NCI|N|
C0796621|Stage IA includes: (T1a, N0, M0, G1, GX); (T1b, N0, M0, G1, GX). T1a: Superficial tumor 5 cm or less in greatest dimension. T1b: Deep tumor 5 cm or less in greatest dimension. N0: No regional lymph node metastasis. M0: No distant metastasis. G1: Grade 1. GX: Grade cannot be assessed. (AJCC 7th ed.)|NCI|N|
C0796623|Stage III includes: (T2a, T2b, N0, M0, G3); (Any T, N1, M0, Any G). T2a: Superficial tumor more than 5 cm in greatest dimension. T2b: Deep tumor more than 5 cm in greatest dimension. N0: No regional lymph node metastasis. N1: Regional lymph node metastasis. M0: No distant metastasis. G3: Grade 3. There is no T2a for the pathologic group. (AJCC 7th ed.)|NCI|N|
C0796624|Stage IV includes: Any T, Any N, M1, Any G. M1: Distant metastasis. (AJCC 7th ed.)|NCI|N|
C0796661|A childhood benign or malignant germ cell tumor arising from an anatomic site other than the brain.|NCI|N|
C0796663|A germ cell tumor that arises from the testis during childhood.|NCI|N|
C0796664|A germ cell tumor that arises from the ovary and occurs in children.|NCI|N|
C0796665|A malignant germ cell tumor in children arising from an anatomic site other than the testis or ovary.|NCI|N|
C0805250|A molecular abnormality indicating rearrangement of the BCL2 gene.|NCI|N|
C0805251|A molecular abnormality indicating rearrangement of the BCL6 gene.|NCI|N|
C0805508|A molecular abnormality referring to the loss of at least one copy of the CDKN2A gene.|NCI|N|
C0805509|A molecular abnormality referring to the loss of at least one copy of the CDKN2B gene.|NCI|N|
C0806513|The institution that made the referral.|NCI|N|
C0806692|A finding indicating the spread of cancer to regional or distant lymph node(s).|NCI|N|
C0807034|A molecular abnormality indicating rearrangement of the MYC gene.|NCI|N|
C0808209|A rearrangement involving the T-cell receptor gamma (TRG) gene locus.|NCI|N|
C0809935|Duplication of the long arm of chromosome 18 with variable abnormalities, including intra-uterine growth retardation; characteristic facies with malformed ears, micrognathia, and prominent occiput; heart malformations; and psychomotor retardation.|JABL|N|
C0809936|The core phenotype of Elsahy-Waters syndrome consists of brachycephaly, facial asymmetry, marked hypertelorism, proptosis, blepharochalasis, midface hypoplasia, broad nose with concave nasal ridge, and prognathism; radicular dentin dysplasia with consequent obliterated pulp chambers, apical translucent cysts, recurrent infections, and early loss of teeth; vertebral fusions, particularly at C2-C3; and moderate mental retardation. Skin wrinkling over the glabellar region seems common, and in males, hypospadias has always been present. Inter- and intrafamilial variability has been reported regarding the presence of vertebral fusions, hearing loss, and dentigerous cysts. Midface hypoplasia, facial asymmetry, progressive dental anomalies, and impaired cognitive development become more evident in adulthood (summary by Castori et al., 2010).|OMIM|N|
C0812355|Limitation of independent operation of wheelchair within environment.|NANDA-I|N|
C0812356|Applies to an individual who needs help in moving from bed to chair or requires a complete transfer.|HPO|N|
C0812357|Limitation of independent movement from one bed position to another.|NANDA-I|N|
C0812358|Slow or delayed recovery from a surgical procedure|CCC|N|
C0812364|Cyclical, recurring, and potentially progressive pattern of pervasive sadness experienced (by a parent, caregiver, individual with chronic illness or disability) in response to continual loss, throughout the trajectory of an illness or disability.|NANDA-I|N|
C0812387|Relative coldness of a body part to palpitation, often acccompanied by feelings of coldness.|HPO|N|
C0812412|A rare sporadic arthrogryposis syndrome with characteristics of multiple congenital contractures presenting in a very specific pattern. It is typically symmetric, involving all four limbs, with internally rotated shoulders, fully extended and fixed elbows, the wrists fixed in flexion, partially flexed fingers, hips fixed in flexion or extension, adducted or abducted and sometimes dislocated. The knees may be fixed in extension or flexion and the feet are usually in severe equinovarus position. The jaw and trunk are relatively spared. Normal limb muscle tissue is replaced by fatty, fibrous tissue.|SNOMEDCT_US|N|
C0812413|A malignant mesothelioma originating from cells of the pleura (the thin layer of mesothelium lining the lungs). Pleural mesothelioma is the most common form of mesothelioma.|HPO|N|
C0812425|The percentage of cells in a sample currently undergoing mitosis.|NCI|N|
C0812435|Deletion of the short arm of chromosome 11 with a variable phenotype: Congenital absence of the iris, genitourinary abnormalities and mental retardation known as aniridia-ambiguous genitalia-mental retardation (AGR) triad; Wilms tumor-aniridia-ambiguous genitalia-mental retardation (WAGR) syndrome; Wilms tumor associated with congenital absence of the iris, genitourinary abnormalities, hemihypertrophy, mental retardation, and other anomalies termed AWTA;|JABL|N|
C0812437|Oculodentodigital syndrome is characterized by a typical facial appearance and variable involvement of the eyes, dentition, and fingers. Characteristic facial features include a narrow, pinched nose with hypoplastic alae nasi, prominent columella and thin anteverted nares together with a narrow nasal bridge, and prominent epicanthic folds giving the impression of hypertelorism. The teeth are usually small and carious. Typical eye findings include microphthalmia and microcornea. The characteristic digital malformation is complete syndactyly of the fourth and fifth fingers (syndactyly type III) but the third finger may be involved and associated camptodactyly is a common finding (summary by Judisch et al., 1979).
Neurologic abnormalities are sometimes associated (Gutmann et al., 1991), and lymphedema has been reported in some patients with ODDD (Brice et al., 2013). See review by De Bock et al. (2013).
Genetic Heterogeneity of Oculodentodigital Syndrome
An autosomal recessive form of ODDD (257850) is also caused by mutation in the GJA1 gene, but the majority of cases are autosomal dominant.|OMIM|N|
C0812464|Trisomy 5p is a chromosomal abnormality resulting from the duplication of a segment of variable size of the short arm of chromosome 5, which usually involves the distal band 5p15. The clinical presentation is variable but is always associated with severe intellectual deficit.|ORDO|N|
C0812470|The uterus is not entirely emptied of products of conception following spontaneous, medical or operative pregnancy termination.|NCI|N|
C0813148|A carcinoma that arises from the endometrium and has metastasized to another anatomic site.|NCI|N|
C0813217|A reduced degree of motion of the muscles beneath the skin of the face, often associated with reduced facial crease formation.|HPO|N|
C0813230|An abnormal increase in the level of triglycerides in the blood.|HPO|N|
C0814045|A mode of inheritance that is observed for traits related to a gene encoded on the Y chromosome.|HPO|N|
C0814090|Adverse psychological and behavioral reactions caused by the pressures and demands of employers or clients or other factors, such as the physical environment of the workplace, WORKPLACE VIOLENCE; or WORKPLACE BULLYING.|MSH|N|
C0814098|Outcomes that describe an individual''s ideas and perceptions that influence health behavior|NOC|N|
C0814152|A form of liver inflammation caused by the hepatitis G virus.|NCI|N|
C0814154|A cognitive and neurological disorder due to fetal intrauterine exposure to maternal alcohol consumption. Typically, this presents without facies or other growth abnormalities.|NCI|N|
C0814466|The labeling of a person with a disease or abnormal condition that would not have caused the person harm if left undiscovered, creating new diagnoses by medicalizing ordinary life experiences, or expanding existing diagnoses by lowering thresholds or widening criteria without evidence of improved outcomes. Individuals derive no clinical benefit from overdiagnosis although they may experience physical, psychological or financial harm.|MSH|N|
C0814973|A status of being neither employed nor unemployed for example students, the retired, carers and also those who are not in work or seeking work.|SNOMEDCT_US|N|
C0815107|Negative emotional state characterized by physical and/or emotional discomfort, pain, or anguish.|MSH|N|
C0815110|A personality trait characterized by a person''s striving for flawlessness and setting excessively high performance standards, accompanied by overly critical self-evaluations and concerns regarding others'' evaluations.|MSH|N|
C0836924|Increased numbers of platelets in the peripheral blood.|HPO|N|
C0836966|A finding of hairy cell leukemia that is not growing and responds to treatment.|NCI|N|
C0836971|A finding of acute promyelocytic leukemia that is not growing and responds to treatment.|NCI|N|
C0836973|A finding of acute myelomonocytic leukemia that is not growing and responds to treatment.|NCI|N|
C0836977|A finding of mast cell leukemia that is not growing and responds to treatment.|NCI|N|
C0837143|A tear in the intimal layer of the abdominal aorta causing a separation between the intima and the medial layers.|HPO|N|
C0840655|A partial or complete breakage of the distal phalanx.|HPO|N|
C0840926|Spondylolysis, the cause of which is present from birth.|NCI|N|
C0841002|A description of an individual''s current or previous use of tobacco.|NCI|N|
C0846967|A benign epithelial skin tumor manifesting as a slightly elevated circular plaque or nodule with a red, pink or brown color and a diameter up to 22 mm.|HPO|N|
C0848083|A benign neoplasm that involves the cardiovascular system.|MONDO|N|
C0848084|Cell death (necrosis) affecting one or more parts of the kidney.|HPO|N|
C0848450|Carcinoma in which the site of involvement is not specified.|NCI|N|
C0848548|Kidney damage that results from chronically elevated blood pressure; complications include glomerular damage resulting in proteinuria and hematuria.|NCI|N|
C0848558|Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displacement of the urethral meatus from the tip of the glans penis to the ventral surface of the penis, scrotum, or perineum.|HPO|N|
C0848859|A carcinoma that arises from the ear. Representative examples include ceruminous adenocarcinoma and squamous cell carcinoma of the external ear and adenocarcinoma of the middle ear.|NCI|N|
C0848866|A carcinoma that arises from any of the structures of the eye.|NCI|N|
C0849804|A condition characterized by the absence of squamous maturation in the cervical epithelium. It is associated with decreased estrogen production.|NCI|N|
C0849867|A pathologic process that has spread from its original site of growth to multiple distant anatomic sites.|NCI|N|
C0849912|Excessively affected by emotion.|NCI|N|
C0849964|A question about an individual feeling emotional, such as angry or upset.|NCI|N|
C0849970|Tiredness is a lack of energy that occurs after a period of physical or mental exertion. Tiredness is typically relieved by rest.|SNOMEDCT_US|N|
C0850149|A cough that does not produce phlegm or mucus.|HPO|N|
C0850327|A rare carcinoma that arises from the cervix and is characterized by the lack of specific cellular differentiation.|NCI|N|
C0850376|Any problem arising from the use of a medical device.|NCI|N|
C0850572|A polypoid adenoma that arises from and protrudes into the lumen of the colon. Epithelial dysplasia is always present. According to the architectural pattern it is classified as tubular, tubulovillous, or villous.|NCI|N|
C0850624|Aspects of personal behavior or lifestyle, environmental exposure, inherited conditions and characteristics, which are determined to be associated with HEART DISEASES.|MSH|N|
C0850639|A lesion characterized by the proliferation of atypical or dysplastic cells without evidence of stromal invasion.|NCI|N|
C0850666|A recurrent infection of the GI tract with helicobacter pylori, a gram-negative, microaerophilic bacterium usually found in the stomach.|HPO|N|
C0850678|Geographic separation of members of a family.|MSH|N|
C0850705|Toxoplasmosis acquired in adulthood.|NCI|N|
C0850715|An abnormality of the hematopoietic system.|HPO|N|
C0850826|A lesion of the skin that is located in a specific region rather than being generalized.|HPO|N|
C0851140|Stage 0 includes: (Tis, N0, M0). Tis: Carcinoma in situ. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th ed.) - 2003|MONDO|N|
C0851352|A class of disorders that encompasses conditions resulting from a congenital, familial hereditary trait or genetic abnormality as is manifested by a characteristic set of symptoms and signs.|NCI|N|
C0851353|Any deviation from the normal structure or function of the blood or lymphatic system that is manifested by a characteristic set of symptoms and signs.|NCI|N|
C0851354|Any deviation from the normal structure or function of the ear or labyrinth that is manifested by a characteristic set of symptoms and signs.|NCI|N|
C0851355|A non-neoplastic or neoplastic disorder that affects the respiratory system or the thoracic organs.|NCI|N|
C0851358|A class of disorders that encompasses conditions occurring as a result of metabolic dysfunction or deviation from the normal nutritional requirements.|NCI|N|
C0851362|A class of disorders that encompasses conditions of a general kind that result from a disease, the treatment of disease or administration of treatment at a particular site and are manifested by a characteristic set of symptoms and signs.|NCI|N|
C0851363|A class of conditions associated with pregnancy, puerperium and perinatal status.|NCI|N|
C0851366|Any deviation from the normal structure or function of the reproductive system or breast that is manifested by a characteristic set of symptoms and signs.|NCI|N|
C0851401|The development of a problematic medical situation that occurs during pregnancy.|NCI|N|
C0851444|The disposition to develop an allergic reaction, the allergic reaction itself or its consequences.|SNOMEDCT_US|N|
C0851563|A hemorrhagic disorder that is caused by pathologic changes in the vasculature.|NCI|N|
C0851578|A change from the patient''s baseline sleeping pattern, in the hours slept and/or an alteration/dysfunction in the stages of sleep.|NCI|N|
C0851689|Abnormal secretion of hormones in conjunction with neoplastic growth occurring anywhere in the body.|NCI|N|
C0851693|A hormone producing pituitary gland tumor, associated with a hormonal syndrome.|MONDO|N|
C0851886|Infections with species in the genus pneumocystis, a fungus causing interstitial plasma cell pneumonia (pneumonia, pneumocystis) and other infections in humans and other mammals. Immunocompromised patients, especially those with aids, are particularly susceptible to these infections. Extrapulmonary sites are rare but seen occasionally.|MONDO|N|
C0851922|A non-neoplastic or neoplastic disorder that affects the peritoneum and/or retroperitoneum.|NCI|N|
C0851946|Bleeding originating in and behind the tissues that line the wall of the abdominal cavity, intestine, and mesentery.|NCI|N|
C0851954|A disorder that affects the surface of the tooth.|NCI|N|
C0851955|A term that refers to disorders that result in pain and abnormal sensation in the teeth and/or periodontal tissues.|NCI|N|
C0851979|An infectious process affecting the esophagus.|NCI|N|
C0851980|An infectious process affecting the peritoneum.|NCI|N|
C0852036|A blood pressure elevation after 20 weeks of gestation in the absence of either proteinuria or systemic findings like thrombocytopenia, impaired liver function, progressive renal insufficiency, pulmonary edema or the new-onset of cerebral or visual disturbances.|NCI|N|
C0852066|A thyroid gland disorder present at birth. It includes thyroid gland aplasia and thyroid gland hypoplasia, both result in hypothyroidism.|NCI|N|
C0852077|Hemorrhagic and thrombotic disorders that occur as a consequence of inherited abnormalities in blood coagulation.|MONDO|N|
C0852260|A hypertensive disorder that develops during pregnancy.|NCI|N|
C0852283|A syndrome characterized by progressive life-threatening RESPIRATORY INSUFFICIENCY in the absence of known LUNG DISEASES, usually following a systemic insult such as surgery or major TRAUMA.|MSH|N|
C0852336|An acquired anemia resulting from immune-mediated destruction of the red blood cells. Causes include autoimmune disorders, blood transfusions, and drugs.|NCI|N|
C0852343|An increase in the concentration of red blood cells (hemoglobin) that is not caused by polycythemia vera.|NCI|N|
C0852359|A disorder characterized by reduced blood flow to the skin.|NCI|N|
C0852481|A form of glioma without malignant characteristics.|MONDO|N|
C0852519|A cartilaginous matrix-producing neoplasm characterized by the presence of neoplastic chondrocytes. There is no evidence of atypical or malignant cytological and architectural features, invasive features, or metastases. Representative examples include osteochondroma and chondroma.|NCI|N|
C0852563|A sleep disorder (insomnia, hypersomnia, or parasomnia) for which there is strong physiological evidence that the disorder is etiologically linked to a general medical condition.|NCI|N|
C0852654|A classic form of congenital adrenal hyperplasia that is characterized by severe 21-hydroxylase deficiency, resulting in glucocorticoid and mineralocorticoid deficiency, without clinically significant salt wasting, and androgen excess, which causes virilization in female infants.|NCI|N|
C0852680|A laboratory test result which indicates increased levels of cardiac troponin T in a biological specimen.|NCI|N|
C0852683|A disorder that is caused by pathologic changes in the glomerular vasculature.|NCI|N|
C0852692|A laboratory test result which indicates increased levels of cardiac troponin I in a biological specimen.|NCI|N|
C0852709|A usually terminal event in the clinical course of lymphomas. The term indicates the presence of atypical, clonal (malignant) lymphocytes (lymphoma cells) in the peripheral blood.|NCI|N|
C0852710|A high level of the degree to which oxygen is bound to hemoglobin given as a percentage calculated by dividing the maximum oxygen capacity into the actual oxygen content and multiplying by 100. Oxygen saturation usually is measured using pulse oximetry.|NCI|N|
C0852711|A severe acute inflammatory response affecting the hands and feet of individuals with with sickle cell disease, sickle cell-hemoglobin C disease or sickle cell-beta-thalassemia. It is caused by vaso-occlusive episodes leading to ischemia and finally infarction of the distal portions of the extremities. Clinical signs of pain, swelling and tenderness of digits usually begin in early childhood and may be the initial manifestations of sickle cell anemia. Clinical course is self-limited with instances typically lasting a few weeks and occurring during sickling crises. An initial episode before the age of 1 strongly correlates with a more severe disease course.|NCI|N|
C0852722|A carcinoma of the hypopharynx that arises from the postcricoid region.|NCI|N|
C0852733|The successful attempt to kill oneself.|MSH|N|
C0852795|Abnormally high levels of insulin in the blood.|NCI|N|
C0852800|Any deviation from the normal value of the cardiac index, defined as cardiac output divided by body surface area.|HPO|N|
C0852866|Compression of the spinal cord in the cervical region, generally manifested by paresthesias and numbness, weakness, difficulty walking, abnormalities of coordination, and neck pain or stiffness.|HPO|N|
C0852875|An allergic disease involving a pathogenic inflammatory response in the camera-type eye.|MONDO|N|
C0852879|Bleeding in the alveoli.|NCI|N|
C0852911|A laboratory test result which indicates an increased level of alkaline phosphatase in a biological specimen.|NCI|N|
C0852920|Exacerbation of an underlying colitis.|NCI|N|
C0852928|Insomnia that is made worse by other factors, including pain, physiological or psychological disorders, external causes, or pharmacologic interventions.|NCI|N|
C0852937|A rare benign adipose tissue neoplasm located within the lumen of a bronchus. It is predominantly found in males and usually originates within the fatty tissue between bronchial cartilage. May cause irreversible pulmonary damage distally. Two-thirds of the tumors occur on the right side and most are located on the first three subdivisions of the tracheobronchial tree.|NCI|N|
C0852944|A deviation from normal values for the functional residual capacity, which is defined as the volume remaining in the lungs after a normal, passive exhalation.|HPO|N|
C0852945|Pericarditis caused by the infiltration of the pericardium by a malignant neoplasm. The diagnosis is based on the cytological examination of pericardial fluid or the histologic examination of pericardial tissue.|NCI|N|
C0852949|An impairment of the structure or function of the blood vessels which carry blood away from the heart.|NCI|N|
C0852967|A flare of acne which may be precipitated by variety of factors, including hormonal activity, stress, oils and oily cosmetics, sweat, overwashing, and certain foods and drugs.|NCI|N|
C0852977|An increase in the duration or intensity of epileptic symptoms in the setting of chronic epilepsy.|NCI|N|
C0853030|A benign condition in which the circulating AMYLASES are of high molecular masses, macroamylases. Macroamylases are amylase-plasma protein complexes, usually with immunoglobulins. Macroamylases cannot be cleared by the renal glomeruli.|MSH|N|
C0853031|A neoplasm that arises from the hair follicle and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C0853034|A laboratory test result which indicates increased levels of creatine phosphokinase in a biological specimen.|NCI|N|
C0853068|An abnormal reduction in the volume of fluid filtered out of plasma through glomerular capillary walls into Bowman's capsules per unit of time.|HPO|N|
C0853085|An decreased concentration of low-density lipoprotein cholesterol in the blood.|HPO|N|
C0853087|Abnormality of the nail.|HPO|N|
C0853105|A carcinoma that arises from the penis. Risk factors include phimosis and human papillomavirus infection. The majority of penile carcinomas are squamous cell carcinomas. The most frequent clinical presentation is an irregular mass in the glans of the penis. Treatment includes surgical management and radiation therapy.|NCI|N|
C0853122|A laboratory test result which indicates decreased levels of corticotrophin in the blood.|NCI|N|
C0853142|A laboratory test result which indicates decreased levels of CD4 lymphocytes in a biospecimen.|NCI|N|
C0853150|An abnormality of the function of the electrical signals with which peripheral nerve cells communicate with each other or with muscles.|HPO|N|
C0853154|A variation from the normal heart rhythm in a fetus.|NCI|N|
C0853193|A bipolar disorder that is characterized by at least one manic or mixed episode.|MONDO|N|
C0853195|Acute inflammation of the larynx caused by viruses, including rhinovirus, influenza virus, parainfluenza virus, and adenovirus.|NCI|N|
C0853225|Increased time to coagulation in the prothrombin time test, which is a measure of the extrinsic pathway of coagulation. The results of the prothrombin time test are often expressed in terms of the International normalized ratio (INR), which is calculated as a ratio of the patient's prothrombin time (PT) to a control PT standardized for the potency of the thromboplastin reagent developed by the World Health Organization (WHO) using the formula|HPO|N|
C0853228|A deviation from the normal circulating concentration of ferritin. Ferritin concentration can be measured in serum or plasma.|HPO|N|
C0853240|Facial diplegia (that is, bilateral facial palsy) with congenital onset.|HPO|N|
C0853294|Demonstration of parasite in stool specimen, e.g., Parasites present on wet mount of stool.e|HPO|N|
C0853336|Discrete, small lesions present in the cornea as a result of corneal inflammation and, in some cases, after soft contact lens wear especially extended-wear lenses.|NCI|N|
C0853394|A melanoma affecting the retinal portion of the eye.|NCI|N|
C0853517|An x-ray of the carotid arteries that reveals normal results.|NCI|N|
C0853520|An x-ray of the cerebral arteries that reveals normal results.|NCI|N|
C0853522|An x-ray of the coronary arteries that reveals normal results.|NCI|N|
C0853592|A laboratory test result which indicates abnormal levels of antidiuretic hormone in the blood.|NCI|N|
C0853603|A laboratory test result which indicates abnormal levels of gonadotrophin hormone in the blood.|NCI|N|
C0853620|A laboratory test result which indicates abnormal levels of prolactin hormone in the blood.|NCI|N|
C0853644|Any deviation from the normal number of eosinophils per volume in the blood circulation.|HPO|N|
C0853655|A deviation from normal of the mean corpuscular volume, or mean cell volume (MCV) of red blood cells, usually taken to be 80 to 100 femtoliters.|HPO|N|
C0853668|An abnormally decreased level of immunoglobulin E (IgE) in blood.|HPO|N|
C0853688|A neoplasm with papillary architectural pattern arising from the renal pelvis urothelial cells.|NCI|N|
C0853694|A disorder caused when there is a Rh-factor blood-type incompatibility between the mother and fetus, and the mother''s immune system forms antibodies that attack the red blood cells of her unborn child. This disorder can only occur if the mother is Rh-negative and the fetus is Rh-positive.|NCI|N|
C0853695|Diethylstilbestrol (DES) syndrome is a set of signs reported in offspring (children and grandchildren) of women exposed to DES during pregnancy with manifestations of reproductive tract malformations, decreased fertility and increased risk of developing clear cell carcinoma of the vagina and cervix in young women. Reproductive malformations reported in DES syndrome include small, T-shaped uteri and other uterotubal anomalies that increase the risk of miscarriages in women and epididymal cysts, microphallus, cryptorchidism, or testicular hypoplasia in men.|SNOMEDCT_US|N|
C0853697|An abnormally low number of neutrophils in the peripheral blood.|HPO|N|
C0853698|A laboratory test result indicating an abnormal increase in the number of lymphocytes in the peripheral blood, effusions, or bone marrow.|NCI|N|
C0853709|The reemergence of Waldenstrom macroglobulinemia after a period of remission.|NCI|N|
C0853711|A finding indicating the presence of a lower than expected number of spermatozoa in the semen.|NCI|N|
C0853715|A capillary or cavernous hemangioma arising from the breast.|NCI|N|
C0853716|An abnormally increased count of basophils per volume in the blood circulation.|HPO|N|
C0853735|A pulmonary function test result indicating an abnormal vital capacity as compared to the predicted value.|NCI|N|
C0853812|Decreased blood supply to the small or large intestine due to narrowing or blockage of a visceral (mesenteric) artery. The ischemia results to the damage of the intestinal tissues. It may be chronic, caused by atherosclerosis or acute, secondary to the formation of a thrombus or embolus in the mesenteric arterial lumen. In chronic ischemia, patients present with abdominal pain manifested in a short time after a meal and weight loss. In acute ischemia, patients present with sudden and acute abdominal pain, nausea and vomiting, and blood in the stool.|NCI|N|
C0853813|A regionally-limited response to an antigen, which may include inflammation, induration, erythema, pruritus or pain.|NCI|N|
C0853825|A grade I, slowly growing meningioma that arises from the spinal meninges.|NCI|N|
C0853869|Stage II includes: Any pT/TX, N1-3, M0, SX. pTX: Primary tumor cannot be assessed. N1: Metastasis with a lymph node mass 2 cm or less in greatest dimension; or multiple lymph nodes, none more than 2cm in greatest dimension. N2: Metastasis with a lymph node mass more than 2 cm but not more than 5 cm in greatest dimension; or multiple lymph nodes, any one mass greater than 2 cm but not more than 5 cm in greatest dimension. N3: Metastasis with a lymph node mass more than 5 cm in greatest dimension. M0: No distant metastasis. SX: Marker studies not available or not performed. (AJCC 6th and 7th eds.)|NCI|N|
C0853870|An overwhelming, irrational, and persistent fear of contracting Acquired Immune Deficiency Syndrome.|NCI|N|
C0853877|The presence of a fistula affecting the genitourinary system.|HPO|N|
C0853879|A carcinoma that infiltrates the breast parenchyma. The vast majority are adenocarcinomas arising from the terminal ductal lobular unit (TDLU). Often, the invasive adenocarcinoma co-exists with ductal or lobular carcinoma in situ. It is the most common carcinoma affecting women.|NCI|N|
C0853890|An elevated amount of gastrin in the blood.|HPO|N|
C0853895|A category of psychiatric disorders which are the direct physiologic consequence of a general medical condition.|NCI|N|
C0853897|Diabetes complications in which VENTRICULAR REMODELING in the absence of CORONARY ATHEROSCLEROSIS and hypertension results in cardiac dysfunctions, typically LEFT VENTRICULAR DYSFUNCTION. The changes also result in myocardial hypertrophy, myocardial necrosis and fibrosis, and collagen deposition due to impaired glucose tolerance.|MSH|N|
C0853905|An abnormal reduction of the relative proportion of CD4+ to CD8+ T cells.|HPO|N|
C0853945|Blisters arising in the mouth.|HPO|N|
C0853968|The reemergence of inflammatory carcinoma of the breast after a period of remission|NCI|N|
C0853971|Inflammatory breast carcinoma is classified as AJCC Stage IIIB (T4d) unless other criteria indicate more advanced staging.|NCI|N|
C0853972|An inflammatory carcinoma of the breast that has spread to other anatomic sites.|NCI|N|
C0854021|Abnormal result of a test designed to test an individual's central and peripheral vision by determining the ability of the individual to perceive objects at differing locations of the visual field.|HPO|N|
C0854050|An abnormally increased or reduced amount of fluid filtered out of plasma through glomerular capillary walls into Bowman's capsules per unit of time.|HPO|N|
C0854060|An elevation in the total-iron binding capacity, which measures how much serum iron is bound if an excess of radioactive iron is added. A high TIBC corresponds to a high transferrin concentration. The latent (or free) iron binding capacity is the difference between the TIBC and the measured serum iron, corresponding to the transferrin not bound to iron, i.e., free iron binding capacity.|HPO|N|
C0854069|A painful sensation caused by the tumor growth.|NCI|N|
C0854092|Arthritis due to staphylococcal sepsis.|NCI|N|
C0854104|Abnormal reduction in the count of eosinophils in the blood per volume.|HPO|N|
C0854107|This term refers to an abnormally increased susceptibility to bruising (purpura, petechiae, or ecchymoses).|HPO|N|
C0854109|A seizure disorder that is present at the time of birth.|NCI|N|
C0854110|A type of diabetes mellitus related not to lack of insulin but rather to lack of response to insulin on the part of the target tissues of insulin such as muscle, fat, and liver cells. This type of diabetes is typically associated with increases both in blood glucose concentrations as well as in fasting and postprandial serum insulin levels.|HPO|N|
C0854140|A disease involving the endocardium.|MONDO|N|
C0854143|The reemergence of nasal type extranodal NK/T-cell lymphoma after a period of remission.|NCI|N|
C0854165|Conjunctivitis that is characterized by the formation of papillae on the palpebral conjunctiva.|NCI|N|
C0854176|A malignant neoplasm that affects the liver parenchyma, bile ducts, and gallbladder. Representative examples include hepatocellular carcinoma, intrahepatic and extrahepatic cholangiocarcinoma, and gallbladder carcinoma.|NCI|N|
C0854196|A benign or malignant neoplasm that affects the liver parenchyma, bile ducts, and gallbladder. Representative examples of benign neoplasms include hepatocellular adenoma, bile duct adenoma, and gallbladder lipoma. Representative examples of malignant neoplasms include hepatocellular carcinoma, intrahepatic and extrahepatic cholangiocarcinoma, and gallbladder carcinoma.|NCI|N|
C0854198|The spread of a malignant neoplasm from a primary site to an unspecified organ in the abdominal cavity.|NCI|N|
C0854199|A finding of chronic myelomonocytic leukemia that is not growing and responds to treatment.|NCI|N|
C0854242|Dysplasia affecting the vasculature of the gastrointestinal tract.|HPO|N|
C0854260|An impediment to the flow of urine along the urinary tract, which is present at birth.|NCI|N|
C0854265|Excessive bleeding occurring after spontaneous miscarriage or therapeutic abortion.|NCI|N|
C0854284|A vascular disorder or the iris.|NCI|N|
C0854286|A disorder characterized by impaired eyelid function.|NCI|N|
C0854330|Painful, localized rash caused by reactivation of latent varicella zoster virus residing in nerve cell bodies, with resulting infection of the skin in the region supplied by the affected nerve.|NCI|N|
C0854331|Localized rash characterized by grouped vesicles or pustules on an erythematous base that is caused by herpes simplex virus infection.|NCI|N|
C0854337|A genitourinary infection that is caused by Neisseria gonorrhoeae.|NCI|N|
C0854348|A neurological syndrome characterized by distorted perceptions of shape, loss of sense of time, and visual, auditory, and tactile hallucinations.|NCI|N|
C0854359|A rare endocrine disease characterised by hyperinsulinaemic hypoglycaemia associated with the presence of autoantibodies to endogenous insulin without previous exposure to exogenous insulin. Patients usually present in adulthood with postprandial, fasting or exercise-induced hypoglycaemia, often with pronounced neuroglycopenic symptoms. Laboratory investigations reveal markedly elevated serum insulin, as well as increased C-peptide and proinsulin. The condition may be associated with other autoimmune diseases, monoclonal gammopathy, and/or recent exposure to certain medications.|SNOMEDCT_US|N|
C0854373|Lightening or darkening of the lips from their usual coloring.|HPO|N|
C0854379|An increase in the concentration of blood cells resulting from the loss of plasma or water from the blood stream.|NCI|N|
C0854416|A category of non-neoplastic disorders that affect the blood vessels in the lungs. Representative examples include pulmonary embolism, pulmonary hypertension, and arteriovenous malformations.|NCI|N|
C0854437|A granuloma that develops in the urinary bladder.|NCI|N|
C0854467|A laboratory test result indicating low production of erythrocytes, leukocytes and/or thrombocytes from the bone marrow.|NCI|N|
C0854486|A hormone producing pituitary neuroendocrine tumor associated with a hormonal syndrome.|NCI|N|
C0854488|A well differentiated, low grade neuroendocrine neoplasm (carcinoid tumor) that arises from the cecum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent.|NCI|N|
C0854507|Gastroenteritis resulting from an infection with enterovirus.|NCI|N|
C0854510|Infections with bacteria of the genus ureaplasma.|MONDO|N|
C0854530|An infection that is caused by human herpesvirus-6.|NCI|N|
C0854574|Dislodgement, breakdown, or other malfunction of an artificial cardiac pacemaker, chemotherapy port, drip infusion valve, or similar implanted diagnostic or therapeutic device as a result of unconscious or habitual manipulation by the patient.|NCI|N|
C0854676|Malfunction of a medical implant.|NCI|N|
C0854677|Device and/or fragments of device are embedded in patient''s vessel and/or plaque.|NCI|N|
C0854695|A granuloma that forms in response to silicone exposure.|NCI|N|
C0854699|Trichomegaly (TCMGLY), or excessively long eyelashes, is a rare familial trait (Higgins et al., 2014).|OMIM|N|
C0854707|A hyperkeratotic skin lesion that occurs in patients who have been exposed to arsenic.|NCI|N|
C0854719|Complications of intraocular lens surgery; usually refers to intraocular lens contact with cornea, can be intermittent or chronic.|NCI|N|
C0854723|Retinal dystrophy is an abnormality of the retina associated with a hereditary process. Retinal dystrophies are defined by their predominantly monogenic inheritance and they are frequently associated with loss or dysfunction of photoreceptor cells as a primary or secondary event.|HPO|N|
C0854727|A brain hemorrhage caused by an intracranial tumor.|NCI|N|
C0854729|A disorder that is caused by pathologic changes in the spinal vasculature.|NCI|N|
C0854742|The reemergence of anal canal carcinoma in HIV-positive patients after a period of remission.|NCI|N|
C0854750|The reemergence of colorectal carcinoma after a period of remission.|NCI|N|
C0854752|T4,N2,MO (from PDQ)|NCI|N|
C0854761|An esophageal carcinoma which has reappeared after a period of remission or after presumed treatment.|NCI|N|
C0854762|An esophageal adenocarcinoma which has reappeared after a period of remission or after presumed treatment.|NCI|N|
C0854769|An esophageal squamous cell carcinoma which has reappeared after a period of remission or after presumed treatment.|NCI|N|
C0854775|A carcinoma that arises from the pancreas and has metastasized to another anatomic site.|NCI|N|
C0854776|Carcinoma of the pancreas that is not amenable to surgical removal.|NCI|N|
C0854777|The reemergence of pancreatic carcinoma after a period of remission.|NCI|N|
C0854778|Carcinoma of the pancreas amenable to surgical removal.|NCI|N|
C0854779|The reemergence of rectosigmoid carcinoma after a period of remission.|NCI|N|
C0854786|A carcinoma that arises from the small intestine and it has metastasized to other anatomic sites.|NCI|N|
C0854787|Carcinoma of the small intestine not amendable to resection.|NCI|N|
C0854788|The reemergence of small intestine carcinoma after a period of remission.|NCI|N|
C0854789|Carcinoma of the small intestine amendable to resection.|NCI|N|
C0854791|The reemergence of bile duct carcinoma after a period of remission.|NCI|N|
C0854792|Extrahepatic bile duct carcinoma that is amenable to surgical removal.|NCI|N|
C0854793|A malignant liver neoplasm that is not amenable to surgical resection.|NCI|N|
C0854794|The reemergence of liver carcinoma after a period of remission.|NCI|N|
C0854795|A malignant liver neoplasm that is amenable to surgical resection.|NCI|N|
C0854796|Hepatoblastoma not amenable to surgical removal.|NCI|N|
C0854797|Hepatoblastoma amenable to surgical removal.|NCI|N|
C0854798|The reemergence of hepatoblastoma after a period of remission.|NCI|N|
C0854802|The reemergence of chronic lymphocytic leukemia after a period of remission.|NCI|N|
C0854803|Risk: Intermediate; Findings: Lymphocytosis, adenopathy, and enlarged spleen and/or liver; Survival (months): 72. (from AJCC 8th Ed.)|NCI|N|
C0854804|Risk: High; Findings: Lymphocytosis and platelets less than 100,000/microliter; Survival (months): 30. (from AJCC 8th Ed.)|NCI|N|
C0854810|The reemergence of lymphocyte-depleted classic Hodgkin lymphoma after a period of remission.|NCI|N|
C0854811|Lymphocyte-depleted classic Hodgkin lymphoma that is resistant to treatment.|NCI|N|
C0854812|Ann Arbor Classification: Stage IV: Diffuse or disseminated involvement of one or more extralymphatic organs, with or without associated lymph node involvement; or isolated extralymphatic organ involvement in the absence of adjacent regional lymph node involvement, but in conjunction with disease in distant site(s); or any involvement of the liver or bone marrow, lungs (other than by direct extension from another site), or cerebrospinal fluid.|NCI|N|
C0854813|Lymphoplasmacytic lymphoma resistant to treatment.|NCI|N|
C0854814|Ann Arbor Classification: Stage I: Involvement of a single lymph node region (I); or localized involvement of a single extralymphatic organ or site in the absence of any lymph node involvement (IE).|NCI|N|
C0854815|Ann Arbor Classification: Stage II: Involvement of two or more lymph node regions on the same side of the diaphragm (II); or localized involvement of a single extralymphatic organ or site in association with regional lymph node involvement with or without involvement of other lymph node regions on the same side of the diaphragm (IIE).|NCI|N|
C0854816|Ann Arbor Classification: Stage III: Involvement of lymph node regions on both sides of the diaphragm (III), which also may be accompanied by extralymphatic extension in association with adjacent lymph node involvement (IIIE) or by involvement of the spleen (IIIS) or both (IIIE,S).|NCI|N|
C0854817|Ann Arbor Classification: Stage IV: Diffuse or disseminated involvement of one or more extralymphatic organs, with or without associated lymph node involvement; or isolated extralymphatic organ involvement in the absence of adjacent regional lymph node involvement, but in conjunction with disease in distant site(s); or any involvement of the liver or bone marrow, lungs (other than by direct extension from another site), or cerebrospinal fluid.|NCI|N|
C0854818|Adult T-cell leukemia/lymphoma that is resistant to treatment.|NCI|N|
C0854821|Anaplastic large cell lymphoma resistant to treatment.|NCI|N|
C0854822|Ann Arbor Classification: Stage I: Involvement of a single lymph node region (I); or localized involvement of a single extralymphatic organ or site in the absence of any lymph node involvement (IE).|NCI|N|
C0854823|Ann Arbor Classification: Stage II: Involvement of two or more lymph node regions on the same side of the diaphragm (II); or localized involvement of a single extralymphatic organ or site in association with regional lymph node involvement with or without involvement of other lymph node regions on the same side of the diaphragm (IIE).|NCI|N|
C0854824|Ann Arbor Classification. Stage III: Involvement of lymph node regions on both sides of the diaphragm (III), which also may be accompanied by extralymphatic extension in association with adjacent lymph node involvement (IIIE) or by involvement of the spleen (IIIS) or both (IIIE,S).|NCI|N|
C0854825|Ann Arbor Classification: Stage IV: Diffuse or disseminated involvement of one or more extralymphatic organs, with or without associated lymph node involvement; or isolated extralymphatic organ involvement in the absence of adjacent regional lymph node involvement, but in conjunction with disease in distant site(s); or any involvement of the liver or bone marrow, lungs (other than by direct extension from another site), or cerebrospinal fluid.|NCI|N|
C0854826|The reemergence of T-cell non-Hodgkin lymphoma after a period of remission.|NCI|N|
C0854827|T-cell non-Hodgkin lymphoma that is resistant to treatment.|NCI|N|
C0854828|Ann Arbor Classification: Stage I: Involvement of a single lymph node region (I); or localized involvement of a single extralymphatic organ or site in the absence of any lymph node involvement (IE).|NCI|N|
C0854829|Ann Arbor Classification: Stage II: Involvement of two or more lymph node regions on the same side of the diaphragm (II); or localized involvement of a single extralymphatic organ or site in association with regional lymph node involvement with or without involvement of other lymph node regions on the same side of the diaphragm (IIE). The number of regions involved may be indicated by a subscript (e.g., II3).|NCI|N|
C0854830|Ann Arbor Classification: Stage III: Involvement of lymph node regions on both sides of the diaphragm (III), which also may be accompanied by extralymphatic extension in association with adjacent lymph node involvement (IIIE) or by involvement of the spleen (IIIS) or both (IIIE,S).|NCI|N|
C0854831|Ann Arbor Classification: Stage IV: Diffuse or disseminated involvement of one or more extralymphatic organs, with or without associated lymph node involvement; or isolated extralymphatic organ involvement in the absence of adjacent regional lymph node involvement, but in conjunction with disease in distant site(s); or any involvement of the liver or bone marrow, lungs (other than by direct extension from another site), or cerebrospinal fluid.|NCI|N|
C0854832|Nasal type extranodal NK/T-cell lymphoma that does not respond to treatment.|NCI|N|
C0854833|Ann Arbor Classification: Stage I: Involvement of a single lymph node region (I); or localized involvement of a single extralymphatic organ or site in the absence of any lymph node involvement (IE).|NCI|N|
C0854834|Angioimmunoblastic T-cell lymphoma resistant to treatment.|NCI|N|
C0854835|Ann Arbor Classification: Stage I: Involvement of a single lymph node region (I); or localized involvement of a single extralymphatic organ or site in the absence of any lymph node involvement (IE).|NCI|N|
C0854836|Ann Arbor Classification: Stage II: Involvement of two or more lymph node regions on the same side of the diaphragm (II); or localized involvement of a single extralymphatic organ or site in association with regional lymph node involvement with or without involvement of other lymph node regions on the same side of the diaphragm (IIE).|NCI|N|
C0854837|Ann Arbor Classification: Stage III: Involvement of lymph node regions on both sides of the diaphragm (III), which also may be accompanied by extralymphatic extension in association with adjacent lymph node involvement (IIIE) or by involvement of the spleen (IIIS) or both (IIIE,S).|NCI|N|
C0854838|Ann Arbor Classification: Stage IV: Diffuse or disseminated involvement of one or more extralymphatic organs, with or without associated lymph node involvement; or isolated extralymphatic organ involvement in the absence of adjacent regional lymph node involvement, but in conjunction with disease in distant site(s); or any involvement of the liver or bone marrow, lungs (other than by direct extension from another site), or cerebrospinal fluid.|NCI|N|
C0854839|The reemergence of angioimmunoblastic T-cell lymphoma after a period of remission|NCI|N|
C0854840|Ann Arbor Classification: Stage II: Involvement of two or more lymph node regions on the same side of the diaphragm (II); or localized involvement of a single extralymphatic organ or site in association with regional lymph node involvement with or without involvement of other lymph node regions on the same side of the diaphragm (IIE).|NCI|N|
C0854841|Ann Arbor Classification: Stage III: Involvement of lymph node regions on both sides of the diaphragm (III), which also may be accompanied by extralymphatic extension in association with adjacent lymph node involvement (IIIE) or by involvement of the spleen (IIIS) or both (IIIE,S).|NCI|N|
C0854842|Ann Arbor Classification: Stage IV: Diffuse or disseminated involvement of one or more extralymphatic organs, with or without associated lymph node involvement; or isolated extralymphatic organ involvement in the absence of adjacent regional lymph node involvement, but in conjunction with disease in distant site(s); or any involvement of the liver or bone marrow, lungs (other than by direct extension from another site), or cerebrospinal fluid.|NCI|N|
C0854843|The reemergence of enteropathy-associated T-cell lymphoma after a period of remission.|NCI|N|
C0854844|Enteropathy-associated T-cell lymphoma that is resistant to treatment.|NCI|N|
C0854845|Ann Arbor Classification: Stage I: Involvement of a single lymph node region (I); or localized involvement of a single extralymphatic organ or site in the absence of any lymph node involvement (IE).|NCI|N|
C0854846|Ann Arbor Classification: Stage II: Involvement of two or more lymph node regions on the same side of the diaphragm (II); or localized involvement of a single extralymphatic organ or site in association with regional lymph node involvement with or without involvement of other lymph node regions on the same side of the diaphragm (IIE).|NCI|N|
C0854847|Ann Arbor Classification: Stage III: Involvement of lymph node regions on both sides of the diaphragm (III), which also may be accompanied by extralymphatic extension in association with adjacent lymph node involvement (IIIE) or by involvement of the spleen (IIIS) or both (IIIE,S).|NCI|N|
C0854848|Ann Arbor Classification: Stage IV: Diffuse or disseminated involvement of one or more extralymphatic organs, with or without associated lymph node involvement; or isolated extralymphatic organ involvement in the absence of adjacent regional lymph node involvement, but in conjunction with disease in distant site(s); or any involvement of the liver or bone marrow, lungs (other than by direct extension from another site), or cerebrospinal fluid.|NCI|N|
C0854849|The reemergence of mycosis fungoides after a period of remission.|NCI|N|
C0854850|Mycosis fungoides resistant to treatment.|NCI|N|
C0854852|Peripheral T-cell lymphoma, not otherwise specified that is resistant to treatment.|NCI|N|
C0854858|The reemergence of T-lymphoblastic leukemia/lymphoma after a period of remission.|NCI|N|
C0854859|T-lymphoblastic leukemia/lymphoma that is resistant to treatment|NCI|N|
C0854860|Ann Arbor Classification: Stage I: Involvement of a single lymph node region (I); or localized involvement of a single extralymphatic organ or site in the absence of any lymph node involvement (IE) (Rare in Hodgkin lymphoma).|NCI|N|
C0854861|Ann Arbor Classification: Stage II: Involvement of two or more lymph node regions on the same side of the diaphragm (II); or localized involvement of a single extralymphatic organ or site in a with regional lymph node involvement with or without involvement of other lymph node regions on the same side of the diaphragm (IIE).|NCI|N|
C0854862|Ann Arbor Classification: Stage III: Involvement of lymph node regions on both sides of the diaphragm (III), which also may be accompanied by extralymphatic extension in association with adjacent lymph node involvement (IIIE) or by involvement of the spleen (IIIS) or both (IIIE,S).|NCI|N|
C0854864|Ann Arbor Classification: Stage IV: Diffuse or disseminated involvement of one or more extralymphatic organs, with or without associated lymph node involvement; or isolated extralymphatic organ involvement in the absence of adjacent regional lymph node involvement, but in conjunction with disease in distant site(s); or any involvement of the liver or bone marrow, or nodular involvement of the lungs(s).|NCI|N|
C0854866|The reemergence of non-Hodgkin lymphoma after a period of remission.|NCI|N|
C0854867|A non-Hodgkin lymphoma which does not respond to treatment.|NCI|N|
C0854868|The reemergence of non-Hodgkin lymphoma transformed after a period of remission.|NCI|N|
C0854883|A malignant mesothelioma extensively involving the pericardium.|NCI|N|
C0854885|The reemergence of malignant mesothelioma in the pericardium after a period of remission.|NCI|N|
C0854886|A malignant mesothelioma that arises from the peritoneum and has spread in the abdominal cavity. It may result in bowel obstruction.|NCI|N|
C0854888|The reemergence of malignant peritoneal mesothelioma after a period of remission.|NCI|N|
C0854889|Malignant mesothelioma that arises from the pleura and is classified as stage II, stage III, or stage IV.|NCI|N|
C0854890|A mesothelioma that arises from the pleura with the gross appearance of a circumscribed lesion and the microscopic appearance of diffuse malignant mesothelioma, without evidence of diffuse spread.|NCI|N|
C0854891|The reemergence of pleural malignant mesothelioma after a period of remission.|NCI|N|
C0854892|An angiosarcoma that has spread to another anatomical site.|NCI|N|
C0854893|Angiosarcoma that is confined to a specific site without evidence of spread to other anatomic sites.|NCI|N|
C0854894|The reemergence of angiosarcoma after a period of remission.|NCI|N|
C0854895|A malignant hemangiopericytoma which has spread to another anatomical site.|NCI|N|
C0854896|A rare malignant mesenchymal neoplasm that is believed to have its origin in smooth muscle derived pericytes without evidence of metastases.|NCI|N|
C0854897|A rare malignant mesenchymal neoplasm, believed to have its origin in smooth muscle derived pericytes, which has recurred after treatment.|NCI|N|
C0854911|A lesion which is characterized by an irregularly nodular opalescent wall which has caused it to be termed a ""pearly tumor"". The Intramural contents are soft and waxy with a variable amount of cholesterol.|NCI|N|
C0854912|A rare primary germ cell tumor of central nervous system characterized by a space-occupying lesion usually arising in structures around the third ventricle, most commonly the region of the pineal gland and the suprasellar compartment. It is composed of uniform cells resembling primitive germ cells. Clinical manifestations depend on the tumor site and include hydrocephalus, visual disturbances, and endocrine abnormalities. Prognosis is favorable in pure germinomas due to high radiosensitivity.|ORDO|N|
C0854914|Retinoblastoma involving both eyes. This occurs in the majority of patients with the inherited variant. A minority of patient with bilateral retinoblastoma were found to have involvement of the pineal gland as well.|NCI|N|
C0854915|A retinoblastoma that only involves a single eye.|NCI|N|
C0854917|A highly aggressive, extremely rare neoplasm of the kidney that is usually seen in children. The term rhabdoid is used because the tumor cells resemble rhabdomyoblasts but lack myogenic markers, and pathologic diagnosis requires familiarity with these microscopic features plus awareness that adult onset is possible. It can be associated with abnormalities of chromosome 22. It is characterized by the presence of cells with a large eccentric nucleus, prominent nucleolus, and abundant cytoplasm.|HPO|N|
C0854918|A malignant neoplasm of the urethra that has not spread to other regions.|NCI|N|
C0854920|The reemergence of ureter carcinoma after a period of remission|NCI|N|
C0854921|A carcinoma of the ureter that has not spread to other regions.|NCI|N|
C0854924|A high-grade, aggressive adenocarcinoma arising from the endometrium. It is characterized by the presence of complex papillary patterns with cellular budding. Atypical mitoses, necrosis, and psammoma bodies may be present. It is classified as type II endometrial carcinoma and it is not associated with endometrial hyperplasia. It tends to invade deeply into the myometrium and spreads into the lymphatic vessels. Patients frequently present with spread of the tumor beyond the uterus at the time of diagnosis. The prognosis is usually poor.|NCI|N|
C0854941|Stage I includes: T1, N0, M0. T1: Tumor limited to ovaries (one or both). N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C0854942|Stage II includes: T2, N0, M0. T2: Tumor involves one or both ovaries with pelvic extension and/or implants. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C0854943|Stage III includes: T3, N0, M0. T3: Tumor involves one or both both ovaries with microscopically confirmed peritoneal metastasis outside pelvis. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C0854944|Stage IV includes: Any T, Any N, M1. M1: Distant metastasis (excludes peritoneal metastasis). (AJCC 6th and 7th eds.)|NCI|N|
C0854961|Stage II includes: T2, N0, M0. T2: Tumor confined to the vulva or vulva and perineum, more than 2cm in greatest dimension. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th ed.)|NCI|N|
C0854962|Stage III includes: (T1, N1, M0); (T2, N1, M0); (T3, N0, M0); (T3, N1, M0). T3: Tumor of any size with contiguous spread to the lower urethra and/or vagina or anus. N1: Unilateral regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th ed.)|NCI|N|
C0854963|Carcinoma of the penis that has spread from its original site of growth to another anatomic site.|NCI|N|
C0854964|A carcinoma of the penis that reappears after a period of remission.|NCI|N|
C0854970|The reemergence of adenosquamous lung carcinoma after a period of remission.|NCI|N|
C0854972|Stage I includes: IA: (T1a, N0, M0); (T1b, N0, M0) and IB: (T2a, N0, M0). T1a: Lung cancer with a tumor size of 2 cm or less n greatest dimension, surrounded by lung or visceral pleura and without bronchoscopic evidence of invasion more proximal than the lobar bronchus (i.e., not in the main bronchus). The uncommon superficial tumor of any size with its invasive component limited to the bronchial wall, which may extend proximal to the main bronchus, is also classified as T1a. T1b: Lung cancer with a tumor size more than 2 cm but 3 cm or less in greatest dimension, surrounded by lung or visceral pleura and without bronchoscopic evidence of invasion more proximal than the lobar bronchus (i.e., not in the main bronchus). T2a: Lung cancer with a tumor size more than 3 cm but 5 cm or less in greatest dimension. N0: No regional lymph metastasis. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C0854973|Stage II includes: IIA (T2b, N0, M0); (T1a, N1, M0); (T1b, N1, M0); (T2a, N1, M0) and IIB (T2b, N1, M0); (T3, N0, M0). T2b: Lung cancer with a tumor size more than 5 cm but 7 cm or less in greatest dimension. T1a: Lung cancer with a tumor size of 2 cm or less in greatest dimension, surrounded by lung or visceral pleura and without bronchoscopic evidence of invasion more proximal than the lobar bronchus (i.e., not in the main bronchus). The uncommon superficial tumor of any size with its invasive component limited to the bronchial wall, which may extend proximal to the main bronchus, is also classified as T1a. T1b: Lung cancer with a tumor size more than 2 cm but 3 cm or less in greatest dimension, surrounded by lung or visceral pleura and without bronchoscopic evidence of invasion more proximal than the lobar bronchus (i.e., not in the main bronchus). T2a: Lung cancer with a tumor size more than 3 cm but 5 cm or less in greatest dimension. T3: Lung cancer with a tumor size more than 7 cm or one that directly invades any of the following: parietal pleural (PL3) chest wall (including superior sulcus tumors), diaphragm, phrenic nerve, mediastinal pleura, parietal pericardium; or tumor in the main bronchus (less than 2 cm distal to the carina but without involvement of the carina); or associated atelectasis or obstructive pneumonitis of the entire lung or separate tumor nodule(s) in the same lobe. N0: No regional lymph node metastasis. N1: Lung cancer with metastasis in ipsilateral peribronchial and/or ipsilateral hilar lymph nodes and intrapulmonary lymph nodes, including involvement by direct extension. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C0854974|Stage III includes: IIIA (T1a, N2, M0); (T1b, N2, M0); (T2a, N2, M0); (T2b, N2, M0); (T3, N1, M0); (T3, N2, M0); (T4, N0, M0); (T4, N1, M0) and IIIB (T1a, N3, M0); (T1b, N3, M0); (T2a, N3, M0); (T2b, N3, M0); (T3, N3, M0); (T4, N2, M0); (T4, N3, M0). T4: Lung cancer with a tumor of any size that invades any of the following: mediastinum, heart, great vessels, trachea, recurrent laryngeal nerve, esophagus, vertebral body, carina, and separate tumor nodule(s) in a different ipsilateral lobe. N1: Lung cancer with metastasis in ipsilateral peribronchial and/or ipsilateral hilar lymph nodes and intrapulmonary lymph nodes, including involvement by direct extension. N2: Lung cancer with metastasis to ipsilateral mediastinal and/or subcarinal lymph nodes. N3: Lung cancer with metastasis to contralateral mediastinal, contralateral hilar, ipsilateral or contralateral scalene, or supraclavicular lymph nodes. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C0854975|Stage IV includes: (Any T, Any N, M1a); (Any T, Any N, M1b). M1a: Lung cancer with separate tumor nodule(s) in a contralateral lobe; tumor with pleural nodules or malignant pleural (or pericardial) effusion. M1b: Distant metastasis. (AJCC 7th ed.)|NCI|N|
C0854977|The reemergence of large cell lung carcinoma after a period of remission.|NCI|N|
C0854979|Stage I includes: IA: (T1a, N0, M0); (T1b, N0, M0) and IB: (T2a, N0, M0). T1a: Lung cancer with a tumor size of 2 cm or less n greatest dimension, surrounded by lung or visceral pleura and without bronchoscopic evidence of invasion more proximal than the lobar bronchus (i.e., not in the main bronchus). The uncommon superficial tumor of any size with its invasive component limited to the bronchial wall, which may extend proximal to the main bronchus, is also classified as T1a. T1b: Lung cancer with a tumor size more than 2 cm but 3 cm or less in greatest dimension, surrounded by lung or visceral pleura and without bronchoscopic evidence of invasion more proximal than the lobar bronchus (i.e., not in the main bronchus). T2a: Lung cancer with a tumor size more than 3 cm but 5 cm or less in greatest dimension. N0: No regional lymph metastasis. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C0854980|Stage II includes: IIA (T2b, N0, M0); (T1a, N1, M0); (T1b, N1, M0); (T2a, N1, M0) and IIB (T2b, N1, M0); (T3, N0, M0). T2b: Lung cancer with a tumor size more than 5 cm but 7 cm or less in greatest dimension. T1a: Lung cancer with a tumor size of 2 cm or less in greatest dimension, surrounded by lung or visceral pleura and without bronchoscopic evidence of invasion more proximal than the lobar bronchus (i.e., not in the main bronchus). The uncommon superficial tumor of any size with its invasive component limited to the bronchial wall, which may extend proximal to the main bronchus, is also classified as T1a. T1b: Lung cancer with a tumor size more than 2 cm but 3 cm or less in greatest dimension, surrounded by lung or visceral pleura and without bronchoscopic evidence of invasion more proximal than the lobar bronchus (i.e., not in the main bronchus). T2a: Lung cancer with a tumor size more than 3 cm but 5 cm or less in greatest dimension. T3: Lung cancer with a tumor size more than 7 cm or one that directly invades any of the following: parietal pleural (PL3) chest wall (including superior sulcus tumors), diaphragm, phrenic nerve, mediastinal pleura, parietal pericardium; or tumor in the main bronchus (less than 2 cm distal to the carina but without involvement of the carina); or associated atelectasis or obstructive pneumonitis of the entire lung or separate tumor nodule(s) in the same lobe. N0: No regional lymph node metastasis. N1: Lung cancer with metastasis in ipsilateral peribronchial and/or ipsilateral hilar lymph nodes and intrapulmonary lymph nodes, including involvement by direct extension. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C0854981|Stage III includes: IIIA (T1a, N2, M0); (T1b, N2, M0); (T2a, N2, M0); (T2b, N2, M0); (T3, N1, M0); (T3, N2, M0); (T4, N0, M0); (T4, N1, M0) and IIIB (T1a, N3, M0); (T1b, N3, M0); (T2a, N3, M0); (T2b, N3, M0); (T3, N3, M0); (T4, N2, M0); (T4, N3, M0). T4: Lung cancer with a tumor of any size that invades any of the following: mediastinum, heart, great vessels, trachea, recurrent laryngeal nerve, esophagus, vertebral body, carina, and separate tumor nodule(s) in a different ipsilateral lobe. N1: Lung cancer with metastasis in ipsilateral peribronchial and/or ipsilateral hilar lymph nodes and intrapulmonary lymph nodes, including involvement by direct extension. N2: Lung cancer with metastasis to ipsilateral mediastinal and/or subcarinal lymph nodes. N3: Lung cancer with metastasis to contralateral mediastinal, contralateral hilar, ipsilateral or contralateral scalene, or supraclavicular lymph nodes. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C0854982|Stage IV includes: (Any T, Any N, M1a); (Any T, Any N, M1b). M1a: Lung cancer with separate tumor nodule(s) in a contralateral lobe; tumor with pleural nodules or malignant pleural (or pericardial) effusion. M1b: Distant metastasis. (AJCC 7th ed.)|NCI|N|
C0854983|The re-emergence of lung adenocarcinoma after a period of remission.|NCI|N|
C0854985|Stage I includes: IA: (T1a, N0, M0); (T1b, N0, M0) and IB: (T2a, N0, M0). T1a: Lung cancer with a tumor size of 2 cm or less n greatest dimension, surrounded by lung or visceral pleura and without bronchoscopic evidence of invasion more proximal than the lobar bronchus (i.e., not in the main bronchus). The uncommon superficial tumor of any size with its invasive component limited to the bronchial wall, which may extend proximal to the main bronchus, is also classified as T1a. T1b: Lung cancer with a tumor size more than 2 cm but 3 cm or less in greatest dimension, surrounded by lung or visceral pleura and without bronchoscopic evidence of invasion more proximal than the lobar bronchus (i.e., not in the main bronchus). T2a: Lung cancer with a tumor size more than 3 cm but 5 cm or less in greatest dimension. N0: No regional lymph metastasis. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C0854986|Stage II includes: IIA (T2b, N0, M0); (T1a, N1, M0); (T1b, N1, M0); (T2a, N1, M0) and IIB (T2b, N1, M0); (T3, N0, M0). T2b: Lung cancer with a tumor size more than 5 cm but 7 cm or less in greatest dimension. T1a: Lung cancer with a tumor size of 2 cm or less in greatest dimension, surrounded by lung or visceral pleura and without bronchoscopic evidence of invasion more proximal than the lobar bronchus (i.e., not in the main bronchus). The uncommon superficial tumor of any size with its invasive component limited to the bronchial wall, which may extend proximal to the main bronchus, is also classified as T1a. T1b: Lung cancer with a tumor size more than 2 cm but 3 cm or less in greatest dimension, surrounded by lung or visceral pleura and without bronchoscopic evidence of invasion more proximal than the lobar bronchus (i.e., not in the main bronchus). T2a: Lung cancer with a tumor size more than 3 cm but 5 cm or less in greatest dimension. T3: Lung cancer with a tumor size more than 7 cm or one that directly invades any of the following: parietal pleural (PL3) chest wall (including superior sulcus tumors), diaphragm, phrenic nerve, mediastinal pleura, parietal pericardium; or tumor in the main bronchus (less than 2 cm distal to the carina but without involvement of the carina); or associated atelectasis or obstructive pneumonitis of the entire lung or separate tumor nodule(s) in the same lobe. N0: No regional lymph node metastasis. N1: Lung cancer with metastasis in ipsilateral peribronchial and/or ipsilateral hilar lymph nodes and intrapulmonary lymph nodes, including involvement by direct extension. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C0854987|Stage III includes: IIIA (T1a, N2, M0); (T1b, N2, M0); (T2a, N2, M0); (T2b, N2, M0); (T3, N1, M0); (T3, N2, M0); (T4, N0, M0); (T4, N1, M0) and IIIB (T1a, N3, M0); (T1b, N3, M0); (T2a, N3, M0); (T2b, N3, M0); (T3, N3, M0); (T4, N2, M0); (T4, N3, M0). T4: Lung cancer with a tumor of any size that invades any of the following: mediastinum, heart, great vessels, trachea, recurrent laryngeal nerve, esophagus, vertebral body, carina, and separate tumor nodule(s) in a different ipsilateral lobe. N1: Lung cancer with metastasis in ipsilateral peribronchial and/or ipsilateral hilar lymph nodes and intrapulmonary lymph nodes, including involvement by direct extension. N2: Lung cancer with metastasis to ipsilateral mediastinal and/or subcarinal lymph nodes. N3: Lung cancer with metastasis to contralateral mediastinal, contralateral hilar, ipsilateral or contralateral scalene, or supraclavicular lymph nodes. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C0854988|Stage IV includes: (Any T, Any N, M1a); (Any T, Any N, M1b). M1a: Lung cancer with separate tumor nodule(s) in a contralateral lobe; tumor with pleural nodules or malignant pleural (or pericardial) effusion. M1b: Distant metastasis. (AJCC 7th ed.)|NCI|N|
C0854989|The re-emergence of squamous cell lung carcinoma after a period of remission.|NCI|N|
C0854991|Stage I includes: IA: (T1a, N0, M0); (T1b, N0, M0) and IB: (T2a, N0, M0). T1a: Lung cancer with a tumor size of 2 cm or less n greatest dimension, surrounded by lung or visceral pleura and without bronchoscopic evidence of invasion more proximal than the lobar bronchus (i.e., not in the main bronchus). The uncommon superficial tumor of any size with its invasive component limited to the bronchial wall, which may extend proximal to the main bronchus, is also classified as T1a. T1b: Lung cancer with a tumor size more than 2 cm but 3 cm or less in greatest dimension, surrounded by lung or visceral pleura and without bronchoscopic evidence of invasion more proximal than the lobar bronchus (i.e., not in the main bronchus). T2a: Lung cancer with a tumor size more than 3 cm but 5 cm or less in greatest dimension. N0: No regional lymph metastasis. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C0854992|Stage II includes: IIA (T2b, N0, M0); (T1a, N1, M0); (T1b, N1, M0); (T2a, N1, M0) and IIB (T2b, N1, M0); (T3, N0, M0). T2b: Lung cancer with a tumor size more than 5 cm but 7 cm or less in greatest dimension. T1a: Lung cancer with a tumor size of 2 cm or less in greatest dimension, surrounded by lung or visceral pleura and without bronchoscopic evidence of invasion more proximal than the lobar bronchus (i.e., not in the main bronchus). The uncommon superficial tumor of any size with its invasive component limited to the bronchial wall, which may extend proximal to the main bronchus, is also classified as T1a. T1b: Lung cancer with a tumor size more than 2 cm but 3 cm or less in greatest dimension, surrounded by lung or visceral pleura and without bronchoscopic evidence of invasion more proximal than the lobar bronchus (i.e., not in the main bronchus). T2a: Lung cancer with a tumor size more than 3 cm but 5 cm or less in greatest dimension. T3: Lung cancer with a tumor size more than 7 cm or one that directly invades any of the following: parietal pleural (PL3) chest wall (including superior sulcus tumors), diaphragm, phrenic nerve, mediastinal pleura, parietal pericardium; or tumor in the main bronchus (less than 2 cm distal to the carina but without involvement of the carina); or associated atelectasis or obstructive pneumonitis of the entire lung or separate tumor nodule(s) in the same lobe. N0: No regional lymph node metastasis. N1: Lung cancer with metastasis in ipsilateral peribronchial and/or ipsilateral hilar lymph nodes and intrapulmonary lymph nodes, including involvement by direct extension. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C0854993|Stage III includes: IIIA (T1a, N2, M0); (T1b, N2, M0); (T2a, N2, M0); (T2b, N2, M0); (T3, N1, M0); (T3, N2, M0); (T4, N0, M0); (T4, N1, M0) and IIIB (T1a, N3, M0); (T1b, N3, M0); (T2a, N3, M0); (T2b, N3, M0); (T3, N3, M0); (T4, N2, M0); (T4, N3, M0). T4: Lung cancer with a tumor of any size that invades any of the following: mediastinum, heart, great vessels, trachea, recurrent laryngeal nerve, esophagus, vertebral body, carina, and separate tumor nodule(s) in a different ipsilateral lobe. N1: Lung cancer with metastasis in ipsilateral peribronchial and/or ipsilateral hilar lymph nodes and intrapulmonary lymph nodes, including involvement by direct extension. N2: Lung cancer with metastasis to ipsilateral mediastinal and/or subcarinal lymph nodes. N3: Lung cancer with metastasis to contralateral mediastinal, contralateral hilar, ipsilateral or contralateral scalene, or supraclavicular lymph nodes. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C0854994|A squamous cell carcinoma that arises from the lung and has metastasized to another anatomic site.|NCI|N|
C0854995|A malignant epithelial neoplasm arising in the paranasal sinus.|NCI|N|
C0854996|The reemergence of carcinoma of the pharynx after a period of remission.|NCI|N|
C0854998|Stage I carcinoma of the pharynx according to the American Joint Committee on Cancer, 6th, 7th, and 8th editions.|NCI|N|
C0855002|Lung carcinoma that has re-emerged after a period of remission.|NCI|N|
C0855005|Stage IV includes: (Any T, Any N, M1a); (Any T, Any N, M1b). M1a: Lung cancer with separate tumor nodule(s) in a contralateral lobe; tumor with pleural nodules or malignant pleural (or pericardial) effusion. M1b: Distant metastasis. (AJCC 7th ed.)|NCI|N|
C0855007|A small round cell tumor with neural differentiation that is confined to a specific area of the bone and has not spread to other anatomic sites.|NCI|N|
C0855008|A small round cell tumor of the bone with neural differentiation that has spread from its original site of growth to another anatomic site.|NCI|N|
C0855009|A small round cell tumor with neural differentiation arising from the bone. It may be associated with pain.|NCI|N|
C0855010|The reemergence of peripheral primitive neuroectodermal tumor of the bone after a period of remission.|NCI|N|
C0855011|A non-disseminated skeletal or extraskeletal chondrosarcoma.|NCI|N|
C0855012|A chondrosarcoma that has spread to a secondary anatomical site.|NCI|N|
C0855013|The reemergence of chondrosarcoma after a period of remission.|NCI|N|
C0855020|The reemergence of lentigo maligna after a period of remission|NCI|N|
C0855035|Reemergence of undifferentiated pleomorphic sarcoma after a period of remission.|NCI|N|
C0855036|An alveolar soft part sarcoma which has spread to another anatomic site.|NCI|N|
C0855037|Alveolar soft part sarcoma that is confined to a specific site without evidence of spread to other anatomic sites.|NCI|N|
C0855038|The reemergence of alveolar soft part sarcoma after a period of remission.|NCI|N|
C0855039|An epithelioid sarcoma which has spread to another anatomic site.|NCI|N|
C0855040|Epithelioid sarcoma that is confined to a specific site without evidence of spread to other anatomic sites.|NCI|N|
C0855041|The reemergence of epithelioid sarcoma after a period of remission|NCI|N|
C0855042|An Ewing sarcoma of the soft tissues which has spread from its original site of growth to another anatomic site.|NCI|N|
C0855043|Ewing sarcoma that arises from the soft tissue and is confined to a specific site without evidence of spread to other anatomic sites.|NCI|N|
C0855045|Reemergence of extraskeletal Ewing sarcoma after a period of remission.|NCI|N|
C0855050|A soft tissue osteosarcoma which has spread to another anatomical site.|NCI|N|
C0855051|Osteosarcoma that arises from the soft tissue and is confined to a specific site without evidence of spread to other anatomic sites.|NCI|N|
C0855052|An osteosarcoma arising from the soft tissue.|NCI|N|
C0855053|The reemergence of extraskeletal osteosarcoma after a period of remission.|NCI|N|
C0855054|Fibrosarcoma that has spread from its original site of growth to another anatomic site.|NCI|N|
C0855055|Fibrosarcoma that is confined to a specific site without evidence of spread to other anatomic sites.|NCI|N|
C0855056|A leiomyosarcoma that has spread to other anatomic sites.|NCI|N|
C0855057|Leiomyosarcoma that is confined to a specific site without evidence of spread to other anatomic sites.|NCI|N|
C0855058|The reemergence of leiomyosarcoma after a period of remission|NCI|N|
C0855059|A liposarcoma that has metastasized to a secondary site.|NCI|N|
C0855060|Liposarcoma that is confined to a specific site without evidence of spread to other anatomic sites.|NCI|N|
C0855061|The reemergence of liposarcoma after a period of remission.|NCI|N|
C0855069|The reemergence of rhabdomyosarcoma after a period of remission.|NCI|N|
C0855070|A synovial sarcoma that has metastasized to other anatomic sites.|NCI|N|
C0855071|Synovial sarcoma that is confined to a specific site without evidence of spread to other anatomic sites.|NCI|N|
C0855072|The reemergence of synovial sarcoma after a period of remission|NCI|N|
C0855073|An aggressive malignant mesenchymal neoplasm that arises from the liver and usually occurs in older children. It is composed of immature spindle, stellate, polymorphous, and giant cells.|MONDO|N|
C0855074|An antiquated term that refers to the reemergence of either nodular lymphocyte predominant Hodgkin lymphoma or lymphocyte-rich classical Hodgkin lymphoma after a period of remission.|NCI|N|
C0855075|An antiquated term that refers either to nodular lymphocyte predominant Hodgkin lymphoma or to lymphocyte-rich classical Hodgkin lymphoma that is resistant to treatment.|NCI|N|
C0855076|Stage III adult Hodgkin disease means the involvement of lymph node regions on both sides of the diaphragm (III), which may also be accompanied by localized involvement of an associated extralymphatic organ or site (IIIE), by involvement of the spleen (IIIS), or by involvement of both (IIIE + S). Stage III disease may be subdivided by anatomic distribution of abdominal involvement or by extent of splenic involvement. Stage III(1) indicates involvement that is limited to the upper abdomen above the renal vein. Stage III(2) indicates involvement of pelvic and/or para-aortic nodes. Five or more visible splenic nodules on a cut section constitutes extensive splenic involvement. Zero to four nodules is classified as minimal splenic disease. (from PDQ)|NCI|N|
C0855077|Stage IV adult Hodgkin disease means there is disseminated (multifocal) involvement of one or more extralymphatic organs, with or without associated lymph node involvement, or isolated extralymphatic organ involvement with distant (nonregional) nodal involvement. (from PDQ)|NCI|N|
C0855078|The reemergence of mixed cellularity classic Hodgkin lymphoma after a period of remission.|NCI|N|
C0855079|Mixed cellularity classic Hodgkin lymphoma that is resistant to treatment.|NCI|N|
C0855080|Ann Arbor Classification: Stage I: Involvement of a single lymph node region (I); or localized involvement of a single extralymphatic organ or site in the absence of any lymph node involvement (IE) (rare in Hodgkin lymphoma).|NCI|N|
C0855081|Ann Arbor Classification: Stage IV: Diffuse or disseminated involvement of one or more extralymphatic organs, with or without associated lymph node involvement; or isolated extralymphatic organ involvement in the absence of adjacent regional lymph node involvement, but in conjunction with disease in distant site(s); or any involvement of the liver or bone marrow, lungs (other than by direct extension from another site), or cerebrospinal fluid.|NCI|N|
C0855082|Hodgkin lymphoma resistant to treatment|NCI|N|
C0855085|The reemergence of nodular sclerosis classic Hodgkin lymphoma after a period of remission.|NCI|N|
C0855086|Nodular sclerosis classic Hodgkin lymphoma that is resistant to treatment.|NCI|N|
C0855087|Ann Arbor Classification: Stage I: Involvement of a single lymph node region (I); or localized involvement of a single extralymphatic organ or site in the absence of any lymph node involvement (IE) (rare in Hodgkin lymphoma).|NCI|N|
C0855088|Ann Arbor Classification: Stage IV: Diffuse or disseminated involvement of one or more extralymphatic organs, with or without associated lymph node involvement; or isolated extralymphatic organ involvement in the absence of adjacent regional lymph node involvement, but in conjunction with disease in distant site(s); or any involvement of the liver or bone marrow, lungs (other than by direct extension from another site), or cerebrospinal fluid.|NCI|N|
C0855089|The reemergence of B-cell non-Hodgkin lymphoma after a period of remission.|NCI|N|
C0855090|B-cell non-Hodgkin lymphoma that is resistant to treatment.|NCI|N|
C0855091|Ann Arbor Classification: Stage I: Involvement of a single lymph node region (I); or localized involvement of a single extralymphatic organ or site in the absence of any lymph node involvement (IE).|NCI|N|
C0855092|Ann Arbor Classification: Stage II: Involvement of two or more lymph node regions on the same side of the diaphragm (II); or localized involvement of a single extralymphatic organ or site in association with regional lymph node involvement with or without involvement of other lymph node regions on the same side of the diaphragm (IIE). The number of regions involved may be indicated by a subscript (e.g., II3).|NCI|N|
C0855093|Ann Arbor Classification: Stage III: Involvement of lymph node regions on both sides of the diaphragm (III), which also may be accompanied by extralymphatic extension in association with adjacent lymph node involvement (IIIE) or by involvement of the spleen (IIIS) or both (IIIE,S).|NCI|N|
C0855094|Ann Arbor Classification: Stage IV: Diffuse or disseminated involvement of one or more extralymphatic organs, with or without associated lymph node involvement; or isolated extralymphatic organ involvement in the absence of adjacent regional lymph node involvement, but in conjunction with disease in distant site(s); or any involvement of the liver or bone marrow, lungs (other than by direct extension from another site), or cerebrospinal fluid.|NCI|N|
C0855095|A non-Hodgkin lymphoma composed of monomorphic small, round B-lymphocytes in the lymph nodes. When the lymphoid process predominantly involves the bone marrow and the peripheral blood it is called chronic lymphocytic leukemia. (WHO, 2001)|NCI|N|
C0855096|The reemergence of small lymphocytic lymphoma after a period of remission.|NCI|N|
C0855097|B-cell small lymphocytic lymphoma that is resistant to treatment.|NCI|N|
C0855098|Ann Arbor Classification: Stage I: Involvement of a single lymph node region (I); or localized involvement of a single extralymphatic organ or site in the absence of any lymph node involvement (IE).|NCI|N|
C0855099|Ann Arbor Classification: Stage II: Involvement of two or more lymph node regions on the same side of the diaphragm (II); or localized involvement of a single extralymphatic organ or site in association with regional lymph node involvement with or without involvement of other lymph node regions on the same side of the diaphragm (IIE).|NCI|N|
C0855100|Ann Arbor Classification: Stage III: Involvement of lymph node regions on both sides of the diaphragm (III), which also may be accompanied by extralymphatic extension in association with adjacent lymph node involvement (IIIE) or by involvement of the spleen (IIIS) or both (IIIE,S).|NCI|N|
C0855101|Ann Arbor Classification: Stage IV: Diffuse or disseminated involvement of one or more extralymphatic organs, with or without associated lymph node involvement; or isolated extralymphatic organ involvement in the absence of adjacent regional lymph node involvement, but in conjunction with disease in distant site(s); or any involvement of the liver or bone marrow, lungs (other than by direct extension from another site), or cerebrospinal fluid.|NCI|N|
C0855104|The reemergence of Burkitt lymphoma after a period of remission.|NCI|N|
C0855105|Burkitt lymphoma that is resistant to treatment.|NCI|N|
C0855106|Ann Arbor Classification: Stage I: Involvement of a single lymph node region (I); or localized involvement of a single extralymphatic organ or site in the absence of any lymph node involvement (IE).|NCI|N|
C0855107|Ann Arbor Classification: Stage II: Involvement of two or more lymph node regions on the same side of the diaphragm (II); or localized involvement of a single extralymphatic organ or site in association with regional lymph node involvement with or without involvement of other lymph node regions on the same side of the diaphragm (IIE).|NCI|N|
C0855108|Ann Arbor Classification: Stage III: Involvement of lymph node regions on both sides of the diaphragm (III), which also may be accompanied by extralymphatic extension in association with adjacent lymph node involvement (IIIE) or by involvement of the spleen (IIIS) or both (IIIE,S).|NCI|N|
C0855109|Ann Arbor Classification: Stage IV: Diffuse or disseminated involvement of one or more extralymphatic organs, with or without associated lymph node involvement; or isolated extralymphatic organ involvement in the absence of adjacent regional lymph node involvement, but in conjunction with disease in distant site(s); or any involvement of the liver or bone marrow, lungs (other than by direct extension from another site), or cerebrospinal fluid.|NCI|N|
C0855111|The reemergence of diffuse large B-cell lymphoma after a period of remission.|NCI|N|
C0855112|Diffuse large B-cell lymphoma that is resistant to treatment.|NCI|N|
C0855113|Ann Arbor Classification: Stage I: Involvement of a single lymph node region (I); or localized involvement of a single extralymphatic organ or site in the absence of any lymph node involvement (IE).|NCI|N|
C0855114|Ann Arbor Classification: Stage II: Involvement of two or more lymph node regions on the same side of the diaphragm (II); or localized involvement of a single extralymphatic organ or site in association with regional lymph node involvement with or without involvement of other lymph node regions on the same side of the diaphragm (IIE).|NCI|N|
C0855115|Ann Arbor Classification: Stage III: Involvement of lymph node regions on both sides of the diaphragm (III), which also may be accompanied by extralymphatic extension in association with adjacent lymph node involvement (IIIE) or by involvement of the spleen (IIIS) or both (IIIE,S).|NCI|N|
C0855116|Ann Arbor Classification: Stage IV: Diffuse or disseminated involvement of one or more extralymphatic organs, with or without associated lymph node involvement; or isolated extralymphatic organ involvement in the absence of adjacent regional lymph node involvement, but in conjunction with disease in distant site(s); or any involvement of the liver or bone marrow, lungs (other than by direct extension from another site), or cerebrospinal fluid.|NCI|N|
C0855123|Ann Arbor Classification: Stage IV: Diffuse or disseminated involvement of one or more extralymphatic organs, with or without associated lymph node involvement; or isolated extralymphatic organ involvement in the absence of adjacent regional lymph node involvement, but in conjunction with disease in distant site(s); or any involvement of the liver or bone marrow, lungs (other than by direct extension from another site), or cerebrospinal fluid.|NCI|N|
C0855138|Mantle cell lymphoma resistant to treatment.|NCI|N|
C0855139|A rare, indolent B-cell non-Hodgkin lymphoma with characteristics of abnormal clonal proliferation of mature B-lymphocytes with involvement of the lymph nodes, sometimes the bone marrow, and rarely the blood. Clinically it presents with disseminated peripheral, abdominal and/or thoracic lymphadenopathy. Association with Hepatitis C virus and chronic inflammation has been reported.|SNOMEDCT_US|N|
C0855140|The reemergence of nodal marginal zone lymphoma after a period of remission.|NCI|N|
C0855141|Nodal marginal zone B-cell lymphoma resistant to treatment.|NCI|N|
C0855142|Ann Arbor Classification: Stage I: Involvement of a single lymph node region (I); or localized involvement of a single extralymphatic organ or site in the absence of any lymph node involvement (IE).|NCI|N|
C0855143|Ann Arbor Classification: Stage II: Involvement of two or more lymph node regions on the same side of the diaphragm (II); or localized involvement of a single extralymphatic organ or site in association with regional lymph node involvement with or without involvement of other lymph node regions on the same side of the diaphragm (IIE).|NCI|N|
C0855144|Ann Arbor Classification: Stage III: Involvement of lymph node regions on both sides of the diaphragm (III), which also may be accompanied by extralymphatic extension in association with adjacent lymph node involvement (IIIE) or by involvement of the spleen (IIIS) or both (IIIE,S).|NCI|N|
C0855145|Ann Arbor Classification: Stage IV: Diffuse or disseminated involvement of one or more extralymphatic organs, with or without associated lymph node involvement; or isolated extralymphatic organ involvement in the absence of adjacent regional lymph node involvement, but in conjunction with disease in distant site(s); or any involvement of the liver or bone marrow, lungs (other than by direct extension from another site), or cerebrospinal fluid.|NCI|N|
C0855146|An uncommon type of lymphoma. It constitutes approximately 10% of cases of lymphoblastic lymphoma. Approximately 75% of cases reported in a literature review involved patients who were less than 18 years of age. The most commonly affected sites are the skin, bone, soft tissue, and lymph nodes. It has a high remission rate with a median survival of approximately 60 months. (WHO, 2001)|NCI|N|
C0855147|The reemergence of B-lymphoblastic lymphoma after a period of remission.|NCI|N|
C0855148|B-lymphoblastic lymphoma that does not respond to treatment.|NCI|N|
C0855149|Ann Arbor Classification: Stage I: Involvement of a single lymph node region (I); or localized involvement of a single extralymphatic organ or site in the absence of any lymph node involvement (IE).|NCI|N|
C0855150|Ann Arbor Classification: Stage III: Involvement of lymph node regions on both sides of the diaphragm (III), which also may be accompanied by extralymphatic extension in association with adjacent lymph node involvement (IIIE) or by involvement of the spleen (IIIS) or both (IIIE,S).|NCI|N|
C0855151|Ann Arbor Classification: Stage IV: Diffuse or disseminated involvement of one or more extralymphatic organs, with or without associated lymph node involvement; or isolated extralymphatic organ involvement in the absence of adjacent regional lymph node involvement, but in conjunction with disease in distant site(s); or any involvement of the liver or bone marrow, lungs (other than by direct extension from another site), or cerebrospinal fluid.|NCI|N|
C0855153|The reemergence of primary mediastinal (thymic) large B-cell lymphoma after a period of remission.|NCI|N|
C0855154|Primary mediastinal (thymic) large B-cell lymphoma that is resistant to treatment.|NCI|N|
C0855155|Ann Arbor Classification: Stage I: Involvement of a single lymph node region (I); or localized involvement of a single extralymphatic organ or site in the absence of any lymph node involvement (IE).|NCI|N|
C0855156|Ann Arbor Classification: Stage II: Involvement of two or more lymph node regions on the same side of the diaphragm (II); or localized involvement of a single extralymphatic organ or site in association with regional lymph node involvement with or without involvement of other lymph node regions on the same side of the diaphragm (IIE).|NCI|N|
C0855157|Ann Arbor Classification: Stage III: Involvement of lymph node regions on both sides of the diaphragm (III), which also may be accompanied by extralymphatic extension in association with adjacent lymph node involvement (IIIE) or by involvement of the spleen (IIIS) or both (IIIE,S).|NCI|N|
C0855158|Ann Arbor Classification: Stage IV: Diffuse or disseminated involvement of one or more extralymphatic organs, with or without associated lymph node involvement; or isolated extralymphatic organ involvement in the absence of adjacent regional lymph node involvement, but in conjunction with disease in distant site(s); or any involvement of the liver or bone marrow, lungs (other than by direct extension from another site), or cerebrospinal fluid.|NCI|N|
C0855159|An embryonal carcinoma that develops as a primary tumor in an anatomic site other than the testis or ovary.|NCI|N|
C0855163|An immature teratoma that develops as a primary tumor in an anatomic site other than the testis or ovary.|NCI|N|
C0855173|Choriocarcinoma that develops in the placenta. It is the rarest form of gestational choriocarcinoma. Metastases to the mother and infant may occur.|NCI|N|
C0855174|A recurrence of adenocarcinoma of the bladder after a period of remission.|NCI|N|
C0855175|Stage 0 includes: Tis, N0, M0. Tis: Carcinoma in situ. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th Eds.)|NCI|N|
C0855176|Stage I includes: T1, N0, M0. T1: Tumor invades subepithelial connective tissue. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C0855177|Stage II includes: (T2a, N0, M0); (T2b, N0, M0). T2a: Tumor invades superficial muscle (inner half). T2b: Tumor invades deep muscle (outer half). N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C0855178|Stage III includes: (T3a, N0, M0); (T3b, N0, M0); (T4a, N0, M0). T3a: Tumor microscopically invades perivesical tissue. T3b: Tumor macroscopically invades perivesical tissue (extravesical mass). T4a: Tumor invades prostatic stroma, uterus, vagina. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C0855179|Stage IV includes: (T4b, N0, M0); (Any T, N1-3, M0); (Any T, Any N, M1). T4b: Tumor invades pelvic wall, abdominal wall. N0: No regional lymph node metastasis. N1: Single regional lymph node metastasis in the true pelvis (hypogastric, obturator, external iliac, or presacral lymph node). N2: Multiple regional lymph node metastases in the true pelvis (hypogastric, obturator, external iliac, or presacral lymph node metastasis). N3: Metastasis to the common iliac lymph nodes. M0: No distant metastasis. M1: Distant metastasis. (AJCC 7th ed.)|NCI|N|
C0855184|Stage III includes: Any pT/TX, Any N, M1, SX. M1: Distant metastasis. SX: Marker studies not available or not performed. (AJCC 6th and 7th eds.)|NCI|N|
C0855186|The reemergence of bladder squamous cell carcinoma after a period of remission.|NCI|N|
C0855187|Stage 0 includes: Tis, N0, M0. Tis: Carcinoma in situ. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th Eds.)|NCI|N|
C0855188|Stage I includes: T1, N0, M0. T1: Tumor invades subepithelial connective tissue. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C0855189|Stage II includes: (T2a, N0, M0); (T2b, N0, M0). T2a: Tumor invades superficial muscle (inner half). T2b: Tumor invades deep muscle (outer half). N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C0855190|Stage III includes: (T3a, N0, M0); (T3b, N0, M0); (T4a, N0, M0). T3a: Tumor microscopically invades perivesical tissue. T3b: Tumor macroscopically invades perivesical tissue (extravesical mass). T4a: Tumor invades prostatic stroma, uterus, vagina. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C0855191|Stage IV includes: (T4b, N0, M0); (Any T, N1-3, M0); (Any T, Any N, M1). T4b: Tumor invades pelvic wall, abdominal wall. N0: No regional lymph node metastasis. N1: Single regional lymph node metastasis in the true pelvis (hypogastric, obturator, external iliac, or presacral lymph node). N2: Multiple regional lymph node metastases in the true pelvis (hypogastric, obturator, external iliac, or presacral lymph node metastasis). N3: Metastasis to the common iliac lymph nodes. M0: No distant metastasis. M1: Distant metastasis. (AJCC 7th ed.)|NCI|N|
C0855193|Stage I includes: pT1-4, N0, M0, SX. pT1: Tumor limited to the testis and epididymis without vascular/lymphatic invasion; tumor may invade into the tunica albuginea but not the tunica vaginalis. pT2: Tumor limited to the testis and epididymis with vascular/lymphatic invasion, or tumor extending through the tunica albuginea with involvement of the tunica vaginalis. pT3: Tumor invades the spermatic cord with or without vascular/lymphatic invasion. pT4: Tumor invades the scrotum with or without vascular/lymphatic invasion. N0: No regional lymph node metastasis. M0: No distant metastasis. SX: Marker studies not available or not performed. (AJCC 6th and 7th eds.)|NCI|N|
C0855194|Stage I includes: pT1-4, N0, M0, SX. pT1: Tumor limited to the testis and epididymis without vascular/lymphatic invasion; tumor may invade into the tunica albuginea but not the tunica vaginalis. pT2: Tumor limited to the testis and epididymis with vascular/lymphatic invasion, or tumor extending through the tunica albuginea with involvement of the tunica vaginalis. pT3: Tumor invades the spermatic cord with or without vascular/lymphatic invasion. pT4: Tumor invades the scrotum with or without vascular/lymphatic invasion. N0: No regional lymph node metastasis. M0: No distant metastasis. SX: Marker studies not available or not performed. (AJCC 6th and 7th eds.)|NCI|N|
C0855195|Stage II includes: Any pT/TX, N1-3, M0, SX. pTX: Primary tumor cannot be assessed. N1: Metastasis with a lymph node mass 2 cm or less in greatest dimension; or multiple lymph nodes, none more than 2cm in greatest dimension. N2: Metastasis with a lymph node mass more than 2 cm but not more than 5 cm in greatest dimension; or multiple lymph nodes, any one mass greater than 2 cm but not more than 5 cm in greatest dimension. N3: Metastasis with a lymph node mass more than 5 cm in greatest dimension. M0: No distant metastasis. SX: Marker studies not available or not performed. (AJCC 6th and 7th eds.)|NCI|N|
C0855196|Stage III includes: Any pT/TX, Any N, M1, SX. M1: Distant metastasis. SX: Marker studies not available or not performed. (AJCC 6th and 7th eds.)|NCI|N|
C0855197|A malignant germ cell tumor that arises from the testis. It predominantly affects young men. Seminoma is the most frequently seen malignant testicular germ cell tumor, followed by embryonal carcinoma and yolk sac tumor.|NCI|N|
C0855199|Stage II includes: Any pT/TX, N1-3, M0, SX. pTX: Primary tumor cannot be assessed. N1: Metastasis with a lymph node mass 2 cm or less in greatest dimension; or multiple lymph nodes, none more than 2cm in greatest dimension. N2: Metastasis with a lymph node mass more than 2 cm but not more than 5 cm in greatest dimension; or multiple lymph nodes, any one mass greater than 2 cm but not more than 5 cm in greatest dimension. N3: Metastasis with a lymph node mass more than 5 cm in greatest dimension. M0: No distant metastasis. SX: Marker studies not available or not performed. (AJCC 6th and 7th eds.)|NCI|N|
C0855203|Stage I includes: pT1-4, N0, M0, SX. pT1: Tumor limited to the testis and epididymis without vascular/lymphatic invasion; tumor may invade into the tunica albuginea but not the tunica vaginalis. pT2: Tumor limited to the testis and epididymis with vascular/lymphatic invasion, or tumor extending through the tunica albuginea with involvement of the tunica vaginalis. pT3: Tumor invades the spermatic cord with or without vascular/lymphatic invasion. pT4: Tumor invades the scrotum with or without vascular/lymphatic invasion. N0: No regional lymph node metastasis. M0: No distant metastasis. SX: Marker studies not available or not performed. (AJCC 6th and 7th eds.)|NCI|N|
C0855204|Stage III includes: Any pT/TX, Any N, M1, SX. M1: Distant metastasis. SX: Marker studies not available or not performed. (AJCC 6th and 7th eds.)|NCI|N|
C0855213|Stage I includes: pT1-4, N0, M0, SX. pT1: Tumor limited to the testis and epididymis without vascular/lymphatic invasion; tumor may invade into the tunica albuginea but not the tunica vaginalis. pT2: Tumor limited to the testis and epididymis with vascular/lymphatic invasion, or tumor extending through the tunica albuginea with involvement of the tunica vaginalis. pT3: Tumor invades the spermatic cord with or without vascular/lymphatic invasion. pT4: Tumor invades the scrotum with or without vascular/lymphatic invasion. N0: No regional lymph node metastasis. M0: No distant metastasis. SX: Marker studies not available or not performed. (AJCC 6th and 7th eds.)|NCI|N|
C0855214|Stage II includes: Any pT/TX, N1-3, M0, SX. pTX: Primary tumor cannot be assessed. N1: Metastasis with a lymph node mass 2 cm or less in greatest dimension; or multiple lymph nodes, none more than 2cm in greatest dimension. N2: Metastasis with a lymph node mass more than 2 cm but not more than 5 cm in greatest dimension; or multiple lymph nodes, any one mass greater than 2 cm but not more than 5 cm in greatest dimension. N3: Metastasis with a lymph node mass more than 5 cm in greatest dimension. M0: No distant metastasis. SX: Marker studies not available or not performed. (AJCC 6th and 7th eds.)|NCI|N|
C0855215|Stage III includes: Any pT/TX, Any N, M1, SX. M1: Distant metastasis. SX: Marker studies not available or not performed. (AJCC 6th and 7th eds.)|NCI|N|
C0855228|Abnormal eating behaviors, including binge eating, compulsive eating, emotional eating, night eating, and self-induced vomiting, though not at a level that rises to the diagnosis of eating disorder.|NCI|N|
C0855260|A subtype of delusional disorder characterized by the central delusional theme that the individual''s spouse or lover is unfaithful.|NCI|N|
C0855261|A subtype of delusional disorder characterized by the central delusional theme that another person (usually one of higher status) is in love with the individual.|NCI|N|
C0855262|A subtype of delusional disorder characterized by the central delusional theme that the individual has special worth, power, knowledge, or a special relationship to a famous person or deity.|NCI|N|
C0855263|A subtype of delusional disorder characterized by the central delusional theme that the individual has some physical defect or medical condition.|NCI|N|
C0855264|A subtype of delusional disorder applied when the dominant delusional theme cannot be clearly determined.|NCI|N|
C0855322|An anomaly of the pulse pressure, which is defined as the systolic pressured minus the diastolic pressure.|HPO|N|
C0855323|Increased amplitude of the pulse pressure (systolic blood pressure minus diastolic blood pressure).|HPO|N|
C0855329|An electrocardiographic finding of a change in cardiac electrical activity.|NCI|N|
C0855333|An electrocardiographic finding in which the QTc interval corrected for heart rate is prolonged. Thresholds for different age, gender, and patient populations exist. (CDISC)|NCI|N|
C0855512|An anomaly of the mobility of ejaculated sperm.|HPO|N|
C0855521|Volume of semen in ejaculate below the lower limit of normal. This finding can be ascertained by semen analysis. Comment|HPO|N|
C0855740|Any anomaly in the function of thrombocytes.|HPO|N|
C0855742|An anomaly in platelet form, ultrastructure, or intracellular organelles.|HPO|N|
C0855775|A decrease in any of the parameters used to measure the mechanical function of the lungs and upper airway.|NCI|N|
C0855790|A reduction from normal of the mean corpuscular volume, or mean cell volume (MCV) of red blood cells (usually defined as an MCV below 80 femtoliters).|HPO|N|
C0855949|A deviation of urine pH from the normal range of 4.5 to 7.8.|HPO|N|
C0855987|An abnormally reduced count of basophils per volume in the blood circulation.|HPO|N|
C0855997|Any structural abnormality or abnormal count of basophils.|HPO|N|
C0855999|An abnormal count or structure of eosinophils.|HPO|N|
C0856002|Any structural anomaly of a myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells.|HPO|N|
C0856010|The reemergence of extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue after a period of remission.|NCI|N|
C0856011|Extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue that is resistant to treatment.|NCI|N|
C0856012|Extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue presenting as stage I disease.|NCI|N|
C0856013|Extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue presenting as stage II disease.|NCI|N|
C0856014|Extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue presenting as stage III disease.|NCI|N|
C0856015|Extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue presenting as stage IV disease.|NCI|N|
C0856022|The reemergence of splenic marginal zone lymphoma after a period of remission.|NCI|N|
C0856023|Splenic marginal zone lymphoma that is resistant to treatment.|NCI|N|
C0856054|An alteration in the mental status of an individual.|NCI|N|
C0856139|A chronic, inflammatory skin condition characterized by raised, ring shaped eruptions occurring singly or in groups; often on the tops of the hands, feet, elbows, and knees. It is commonly seen in children and young adults, and in women twice as much as men.|NCI|N|
C0856203|An infectious process affecting the uterine cervix. Causative agents include Neisseria gonorrhoeae, Chlamydia trachomatis, human papillomavirus, and herpes simplex virus. Physical examination reveals an erythematous, raised lesion in the cervix and mucopurulent discharge.|NCI|N|
C0856208|An increased consentration of zinc in the blood.|HPO|N|
C0856256|A fetal position during delivery in which the head of the fetus is facing the mother''s abdomen.|NCI|N|
C0856554|A carcinoma that arises from the liver and has spread to another anatomic site.|NCI|N|
C0856562|Mendelian disorders of cornification affecting all or most of integument characterized by hyperkeratosis and/or scaling, caused by an inherited modification of the individual's genome.|MONDO|N|
C0856597|Inflammation of the alveoli of the lung.|NCI|N|
C0856628|The presence of multiple granulomata (small nodular inflammatory lesions containing grouped mononuclear phagocytes) in the lung.|HPO|N|
C0856697|Acute and progressive bronchopneumonia caused by Mycobacterium tuberculosis bacteria. It is characterized by widespread pulmonary patchy consolidations.|NCI|N|
C0856705|An infectious process that affects the brain and spinal cord tissues. It is usually caused by viruses.|NCI|N|
C0856727|Gallstones composed primarily of cholesterol, usually about 2-3 cm in length with an oval form and a yellow or green/brown color.|HPO|N|
C0856747|An abnormal localized widening (dilatation) of the tubular part of the ascending aorta.|HPO|N|
C0856748|An abnormal localized widening (dilatation) of the aortic arch.|HPO|N|
C0856761|Budd-Chiari syndrome (BCS) is caused by obstruction of hepatic venous outflow at any level from the small hepatic veins to the junction of the inferior vena cava (IVC) with the right atrium, 1 and occurs in 1/100,000 of the general population worldwide. The most common presentation is with ascites, but can range from fulminant hepatic failure (FHF) to asymptomatic forms. Obstruction of hepatic venous outflow is mainly caused by primary intravascular thrombosis, which can occur suddenly or be repeated over time, accompanied by some revascularization, accounting for the variable parenchymal hepatic damage and histologic presentation. Budd-Chiari syndrome is thus a disease, but since it occurs as a manifestation of several other diseases, this term is kept for the present for convenience.|HPO|N|
C0856815|Polycythemia resulting from dehydration.|NCI|N|
C0856817|Polycythemia that is not pathologic.|NCI|N|
C0856818|Polycythemia resulting from hypoxia.|NCI|N|
C0856825|A syndrome of immunologically mediated tissue damage that may occur following an allogeneic transplant, usually affecting the skin, liver, and GI tract. The onset is usually within one hundred days of transplantation or immunologic manipulation.|NCI|N|
C0856830|Chondrocalcinosis, or cartilage calcification, is a common condition that usually results from deposition of crystals of calcium pyrophosphate dihydrate (CPPD) in articular hyaline and fibro-cartilage. CPPD crystal deposition may be asymptomatic or associated with characteristic acute attacks ('pseudogout') or chronic arthritis. It can be detected radiographically. Chondrocalcinosis occurs in 3 forms: a primary hereditary form (e.g., CCAL2); a form associated with metabolic disorders (e.g., hyperparathyroidism, hemochromatosis, and hypomagnesemia); and a sporadic form, which may in some cases represent the hereditary form (summary by Hughes et al., 1995 and Richette et al., 2009).
Genetic Heterogeneity of Chondrocalcinosis
Another form of chondrocalcinosis (CCAL1; 600668) has been mapped to chromosome 8q.|OMIM|N|
C0856863|An abnormal gait pattern in which persons stand and walk with their feet spaced widely apart. This is often a component of cerebellar ataxia.|HPO|N|
C0856897|A hemangioma that is not present at birth but develops later in life.|NCI|N|
C0856900|A sarcoma that arises from the skin. Representative examples include Kaposi sarcoma, angiosarcoma, lymphangiosarcoma, liposarcoma, and leiomyosarcoma.|NCI|N|
C0856948|An abnormal rise in the volume of water filtered out of plasma through glomerular capillary walls into Bowman's capsules per unit of time.|HPO|N|
C0856975|Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior.|HPO|N|
C0857007|A type of hyperbilirubinemia with neonatal onset.|HPO|N|
C0857069|Candidiasis that is persistent or long-standing in nature.|NCI|N|
C0857112|Increased pressure in both eyeballs due to obstruction of the outflow of aqueous humor.|NCI|N|
C0857180|A sensation of discomfort emanating from the inferiormost (verterbrochondral or vertebral) ribs.|NCI|N|
C0857265|A type of supraventricular tachycardia that originates in the atrioventricular node.|HPO|N|
C0857276|The kneecap normally is located within the groove termed trochlea on the distal femur and can slide up and down in it. Patellar subluxation refers to an unstable kneecap that does not slide centrally within its groove, i.e., a partial dislocation of the patella.|HPO|N|
C0857305|Purpura associated with a reduction in circulating blood platelets which can result from a variety of factors.|NCI|N|
C0857379|An abnormality of the pinna, which is also referred to as the auricle or external ear.|HPO|N|
C0857460|A higher than average level of platelets in a sample.|NCI|N|
C0857494|An individual whose level of consciousness is such that he is not responsive to any stimulus.|NCI|N|
C0857576|An abnormal functionality of the thyroid gland.|HPO|N|
C0857741|A condition associated with decreased estrogen production, characterized by dryness, inflammation, and itching of the vulva and vaginal tissues. It may also be associated with dysuria and dyspareunia.|NCI|N|
C0857751|Less serious form of hypersensitivity reaction which occurs in response to medicines, infections, or illness.|SNOMEDCT_US|N|
C0857836|An infection that is caused by JC virus.|NCI|N|
C0857862|An pneumonia caused by infection with Staphylococcus aureus.|MONDO|N|
C0857899|Abnormally reduced levels of aldosterone.|HPO|N|
C0857963|A deviation from normal concentrations of estradiol in the circulation.|HPO|N|
C0857973|An abnormal increased concentration of parathyroid hormone.|HPO|N|
C0858195|Lymph node infection by Mycobacterium avium or Mycobacterium intracellulare. It most often affects children and usually presents with cervical lymph node enlargement. It generally follows a benign clinical course.|NCI|N|
C0858252|The most common histologic type of breast carcinoma. Representative examples include invasive ductal carcinoma not otherwise specified, ductal carcinoma in situ, inflammatory carcinoma, secretory carcinoma, signet ring cell carcinoma, tubular carcinoma, invasive lobular carcinoma, and lobular carcinoma in situ.|NCI|N|
C0858552|Spinal nerve paralysis that is irreversible.|NCI|N|
C0858617|A type of cataract affecting the posterior pole of lens immediately adjacent to ('beneath') the Lens capsule.|HPO|N|
C0858618|A form of colorblindness in which only two of the three fundamental colors can be distinguished due to a lack of one of the retinal cone pigments.|HPO|N|
C0858634|Unprovoked explosive pathological sneezing.|HPO|N|
C0858635|Painful sensation in the pharyngolaryngeal region.|NCI|N|
C0858642|Coughing up and spitting out of an overproduction of mucus in the respiratory tract in reaction to a constantly recurring irritant.|NCI|N|
C0858684|Telangiectases (small dilated blood vessels) located near the surface of the skin of the face.|HPO|N|
C0858697|A papule with white color.|HPO|N|
C0858862|An abnormal red color of the urine.|HPO|N|
C0858867|A reduced number of reticulocytes in the peripheral blood.|HPO|N|
C0858906|An infection caused by pus-producing organisms.|NCI|N|
C0858917|Bleeding between the conjunctiva and episclera in the absence of discharge or inflammation.|NCI|N|
C0858961|Trouble expectorating saliva or mucus from the respiratory tract.|NCI|N|
C0859034|Kidney damage resulting from uric acid precipitation within the renal tubules.|NCI|N|
C0859036|Inflammation of the glomeruli, in which all glomeruli are affected, resulting in renal failure.|NCI|N|
C0859086|A malignant neoplasm that affects the area of the nipple.|NCI|N|
C0859238|An abnormal accumulation of fluid beneath the skin on the palm of the hand.|HPO|N|
C0859865|A benign polypoid growth in the external or middle ear.|NCI|N|
C0859897|Any functional anomaly of the vocal cord.|HPO|N|
C0859920|An uncontrolled autonomous cell-proliferation originating in a hair follicle, which is an epidermal adnexal structures responsible for hair growth.|HPO|N|
C0859949|Hypersensitivity in form of an adverse immune reaction against allergens contained in meat products.|HPO|N|
C0859960|A broad classification for humoral immunodeficiencies. These disorders may be caused by inadequate activation of progenitor B cells, defective class-switching or the effects of medications. Despite the potential for increased susceptibility to infection, these disorders are self-limited with eventual normalization of serum antibody levels.|NCI|N|
C0859976|Characterized by loss of esophageal peristalsis and insufficient lower esophageal sphincter relaxation in response to deglutition. A rare disease with no gender predilection, the peak incidence occurs between 30 and 60 years of age. Although the precise etiology is unknown, it is often thought to be either autoimmune, viral immune, or neurodegenerative. Some familial cases have been reported, but the rarity of familial occurrence does not support the hypothesis that genetic inheritance is a significant etiologic factor.|SNOMEDCT_US|N|
C0860038|A granuloma that develops in response to Actinomycotic fungal infection.|NCI|N|
C0860055|A form of reactive arthritis that is associated with lesions on both the palms of the hands and the soles of the feet.|NCI|N|
C0860158|A rare, 46,XY disorder of sex development due to impaired androgen production characterized by impaired normal male sexual development. The severity of the disorder varies and can manifest in its severe form with complete 46,XY male pseudohermaphroditism, including low testosterone and high luteinizing hormone levels, absent development of secondary male sex characteristics and lack of breast development. Patients with the milder form can have a wider range of phenotypes, ranging from micropenis to severe hypospadias.|ORDO|N|
C0860168|Particular variety of ulcerative colitis where only the left half of the colon is inflamed.|MONDO|N|
C0860207|Damage to the liver tissue due to drug overdose.|NCI|N|
C0860239|An infection that arises secondary to catheter use.|NCI|N|
C0860248|A laboratory test result indicating an inheritable form of dysbetalipoproteinemia, in which there are excess intermediate-density lipoproteins in the blood.|NCI|N|
C0860439|Patchy and irregular skin pigmentation.|HPO|N|
C0860499|Small, dome-shaped nodules without a prominent central vessel located on the conjunctiva. The lymphoid follicles are located in the subendothelial region of the conjunctiva. They consist of a germinal center that contains immature, proliferating lymphocytes, as well as a corona that contains mature lymphocytes and plasma cells.|HPO|N|
C0860515|Freezing of gait is defined as a brief, episodic absence or marked reduction of forward progression of the feet despite the intention to walk.|HPO|N|
C0860549|Potentially fatal shifts in fluids and electrolytes that may occur in malnourished patients receiving artificial refeeding (whether enterally or parenterally).|MONDO|N|
C0860564|A syndrome observed in patients with acute promyelocytic leukemia treated with all-trans retinoic acid. It is characterized by weight gain, dyspnea, pleural and pericardial effusions, leukocytosis, and renal failure.|NCI|N|
C0860580|An infiltrating breast carcinoma with a relatively favorable prognosis. It is an uncommon carcinoma, accounting for less than 1% of all infiltrating breast carcinomas. It is well circumscribed, with soft cut surface and often of considerable size. Microscopically, the predominant growth pattern is syncytial with broad anastomosing bands or sheets of malignant cells. The malignant cells are round with abundant cytoplasm and vesicular nuclei. The sheets of malignant cells are associated with a marked lymphoplasmacytic infiltrate. Glandular or tubular structures are absent.|NCI|N|
C0860609|Uncontrolled episodes of crying occur without any apparent motivating stimuli.|HPO|N|
C0860614|A learning disability that involves impaired written language ability such as impairments in handwriting, spelling, organization of ideas, and composition.|MONDO|N|
C0860621|A disorder characterized by the acute and sudden development of changes in attention, memory, language and/or perception that can be etiologically linked to the direct physiological consequences of a general medical condition.|NCI|N|
C0860625|A disorder involving memory impairment (either anterograde or retrograde) that is etiologically linked to the direct physiological consequence of a general medical condition. The memory impairment is not the result of a delirium or dementia.|NCI|N|
C0860634|Feigned coma or psychogenic coma. These patients appear comatose (i.e., unresponsive, unarousable, or both) but have no structural lesion, metabolic or toxic disorder.|MSH|N|
C0860649|Insomnia as a result of a physiological cause.|NCI|N|
C0860787|A laboratory test result which indicates abnormal levels of growth hormone in a biologic specimen.|NCI|N|
C0861212|The reemergence of centroblastic lymphoma after a period of remission.|NCI|N|
C0861214|Centroblastic lymphoma, resistant to treatment.|NCI|N|
C0861216|Ann Arbor Classification: Stage I: Involvement of a single lymph node region (I); or localized involvement of a single extralymphatic organ or site in the absence of any lymph node involvement (IE).|NCI|N|
C0861218|Ann Arbor Classification: Stage II: Involvement of two or more lymph node regions on the same side of the diaphragm (II); or localized involvement of a single extralymphatic organ or site in association with regional lymph node involvement with or without involvement of other lymph node regions on the same side of the diaphragm (IIE). The number of regions involved may be indicated by a subscript (e.g., II3).|NCI|N|
C0861220|Ann Arbor Classification: Stage III: Involvement of lymph node regions on both sides of the diaphragm (III), which also may be accompanied by extralymphatic extension in association with adjacent lymph node involvement (IIIE) or by involvement of the spleen (IIIS) or both (IIIE,S).|NCI|N|
C0861222|Ann Arbor Classification: Stage IV: Diffuse or disseminated involvement of one or more extralymphatic organs, with or without associated lymph node involvement; or isolated extralymphatic organ involvement in the absence of adjacent regional lymph node involvement, but in conjunction with disease in distant site(s); or any involvement of the liver or bone marrow, lungs (other than by direct extension from another site), or cerebrospinal fluid.|NCI|N|
C0861352|A spectrum of non-invasive neoplastic lesions that arise from the terminal ductal lobular units of the breast. There is atypical small epithelial cell proliferation. Pagetoid involvement of the terminal ducts may or may not be present. In the minority of cases, there is a risk for subsequent development of invasive ductal or invasive lobular carcinoma.|NCI|N|
C0861355|The reemergence of breast adenocarcinoma after a period of remission.|NCI|N|
C0861429|The reemergence of colon adenocarcinoma after a period of remission.|NCI|N|
C0861555|Reemergence of a lip or oral cavity malignant neoplasm after a period of remission.|NCI|N|
C0861556|Reemergence of squamous cell carcinoma of the oral cavity after a period of remission.|NCI|N|
C0861571|Stage 0 includes: Tis, N0, M0. Tis: Carcinoma in situ. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C0861585|Stage I includes: T1, N0, M0. T1: Tumor 2 cm or less in greatest dimension. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C0861598|Stage II includes: T2, N0, M0. T2: Tumor more than 2 cm but not more than 4 cm in greatest dimension. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C0861611|Stage III includes: (T3, N0, M0); (T1, N1, M0); (T2, N1, M0); (T3, N1, M0). T3: Tumor more than 4 cm in greatest dimension. N1: Metastasis in a single ipsilateral lymph node, 3 cm or less in greatest dimension. M0: No distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C0861624|Stage IV includes: IVA (T4a, N0, M0); (T4a, N1, M0); (T1, N2, M0); (T2, N2, M0); (T3, N2, M0); (T4a, N2, M0);. IVB (Any T, N3, M0); (T4b, Any N, M0); IVC (Any T, Any N, M1). T4a: (oral cavity) Tumor invades adjacent structures (e.g., through cortical bone, into deep [extrinsic] muscles of tongue, maxillary sinus, skin of face). T4b: Tumor invades masticator space, pterygoid plates, or skull base and/or encases internal carotid artery. N2: Metastasis in a single ipsilateral lymph node, more than 3 cm but not more than 6 cm in greatest dimension; or in multiple ipsilateral lymph nodes, none more than 6 cm in greatest dimension; or in bilateral or contralateral lymph nodes, none more than 6 cm in greatest dimension. N2a: Metastasis in a single ipsilateral lymph node more than 3 cm but not more than 6 cm in dimension. N2b: Metastasis in multiple ipsilateral lymph nodes, none more than 6 cm in greatest dimension. N2c: Metastasis in bilateral or contralateral lymph nodes, none more than 6 cm in greatest dimension. N3: Metastasis in a lymph node more than 6 cm in greatest dimension. M1: Distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C0861625|An adenoid cystic carcinoma arising from the minor salivary glands in the tongue.|NCI|N|
C0861626|A mucoepidermoid carcinoma that arises from the tongue.|NCI|N|
C0861725|Stage 0 includes: Tis, N0, M0. Tis: Carcinoma in situ. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C0861727|An adenocarcinoma that arises from the exocrine pancreatic tissue and has metastasized to other anatomic sites.|NCI|N|
C0861741|The reemergence of pancreatic adenocarcinoma after a period of remission.|NCI|N|
C0861748|Pancreatic adenocarcinoma that is amenable to surgical resection.|NCI|N|
C0861754|The reemergence of rectal adenocarcinoma after a period of remission.|NCI|N|
C0861816|A malignant small intestinal neoplasm that has spread from its original site of growth to another anatomic site.|NCI|N|
C0861819|An adenocarcinoma that arises from the small intestine and has metastasized to other anatomic sites.|NCI|N|
C0861832|The reemergence of duodenal carcinoma after a period of remission.|NCI|N|
C0861834|The reemergence of a malignant duodenal neoplasm after a period of remission.|NCI|N|
C0861843|Carcinoma of the duodenum amendable to surgical removal.|NCI|N|
C0861854|A carcinoma that arises from the extrahepatic bile ducts. It is characterized by the presence of glandular and squamous malignant epithelial components.|NCI|N|
C0861855|A morphologic variant of extrahepatic bile duct adenocarcinoma characterized by the presence of malignant glandular epithelium composed of clear cells.|NCI|N|
C0861856|An adenocarcinoma that arises from the extrahepatic bile ducts. It is characterized by the presence of extracellular mucin that constitutes more than fifty-percent of the tumor.|NCI|N|
C0861859|An adenocarcinoma that arises from the extrahepatic bile ducts. It is characterized by the presence of signet ring malignant epithelial cells.|NCI|N|
C0861861|A carcinoma that arises from the extrahepatic bile ducts. It is composed entirely by malignant squamous epithelial cells.|NCI|N|
C0861876|The reemergence of hepatocellular carcinoma after a period of remission|NCI|N|
C0862030|A neoplasm of lymphoblasts committed to the B-cell lineage, typically composed of small to medium-sized blast cells. When the neoplasm involves predominantly the bone marrow and the peripheral blood, it is called B acute lymphoblastic leukemia. When it involves nodal or extranodal sites, it is called B lymphoblastic lymphoma. (WHO, 2001)|NCI|N|
C0862039|Ann Arbor Classification: Stage II: Involvement of two or more lymph node regions on the same side of the diaphragm (II); or localized involvement of a single extralymphatic organ or site in association with regional lymph node involvement with or without involvement of other lymph node regions on the same side of the diaphragm (IIE).|NCI|N|
C0862090|Lymphomatoid granulomatosis characterized by the presence of occasional large lymphoid cells or immunoblasts in a polymorphous background. Necrosis is more commonly seen as compared to grade I lymphomatoid granulomatosis. By in situ hybridization, EBV-positive cells are readily seen.|NCI|N|
C0862195|A peripheral (mature) T-cell lymphoma presenting in the skin with patches/plaques and it is characterized by epidermal and dermal infiltration of small to medium-sized T-cells with cerebriform nuclei. Patients with limited disease generally have an excellent prognosis. In the more advanced stages, the prognosis is poor. (WHO, 2001)|NCI|N|
C0862196|Mature T and NK neoplasms predominantly affecting the skin and the peripheral blood. Peripheral blood involvement by abnormal T-cells (cerebriform cells) is a late manifestation of mycosis fungoides, whereas it is the presenting finding in Sezary syndrome.|NCI|N|
C0862200|The reemergence of mycosis fungoides/Sezary syndrome after a period of remission.|NCI|N|
C0862201|The reemergence of Sezary syndrome after a period of remission.|NCI|N|
C0862206|Mycosis fungoides and Sezary syndrome that is resistant to treatment.|NCI|N|
C0862207|Sezary syndrome that is resistant to treatment.|NCI|N|
C0862211|Stage I includes: IA (T1, N0, M0, B0-1); IB (T2, N0, M0, B0-1). T1: Limited patches, papules, and/or plaques covering less than 10% of the skin surface. May further stratify into T1a (patch only) vs. T1b (plaque +/- patch). T2: Patches, papules, or plaques covering 10% or more of the skin surface. May further stratify into T2a (patch only) vs. T2b (plaque +/- patch). N0: No clinically abnormal peripheral lymph nodes; biopsy not required. M0: No visceral organ involvement. B0: Absence of significant blood involvement: 5% or less of peripheral blood lymphocytes are atypical (Sezary cells). B1: Low blood tumor burden: more than 5% of peripheral blood lymphocytes are atypical (Sezary cells) but does not meet the criteria of B2. (AJCC 7th ed.)|NCI|N|
C0862216|Stage II includes: IIA (T1-2, N1-2, M0, B0-1); IIB (T3, N0-2, M0, B0-1). T1: Limited patches, papules, and/or plaques covering less than 10% of the skin surface. May further stratify into T1a (patch only) vs. T1b (plaque +/- patch). T2: Patches, papules, or plaques covering 10% or more of the skin surface. May further stratify into T2a (patch only) vs. T2b (plaque +/- patch). T3: One or more tumors (equal or greater than 1 cm diameter). N0: No clinically abnormal peripheral lymph nodes; biopsy not required. N1: Clinically abnormal peripheral lymph nodes; histopathology Dutch grade 1 or NCI LN0-2. N2: Clinically abnormal peripheral lymph nodes; histopathology Dutch grade 2 or NCI LN3. M0: No visceral organ involvement. B0: Absence of significant blood involvement: 5% or less of peripheral blood lymphocytes are atypical (Sezary cells). B1: Low blood tumor burden: more than 5% of peripheral blood lymphocytes are atypical (Sezary cells) but does not meet the criteria of B2. (AJCC 7th ed.)|NCI|N|
C0862221|Stage III includes: (T4, N0-2, M0, B0-1); IIIA (T4, N0-2, M0, B0); IIIB (T4, N0-2, M0, B1). T4: Confluence of erythema covering 80% or more of body surface area. N0: No clinically abnormal peripheral lymph nodes; biopsy not required. N1: Clinically abnormal peripheral lymph nodes; histopathology Dutch grade 1 or NCI LN0-2. N2: Clinically abnormal peripheral lymph nodes; histopathology Dutch grade 2 or NCI LN3. M0: No visceral organ involvement. B0: Absence of significant blood involvement: 5% or less of peripheral blood lymphocytes are atypical (Sezary cells). B1: Low blood tumor burden: more than 5% of peripheral blood lymphocytes are atypical (Sezary cells) but does not meet the criteria of B2. (AJCC 7th ed.)|NCI|N|
C0862226|Stage IV includes: IVA1 (T1-4, N0-2, M0, B2); IVA2 (T1-4, N3, M0, B0-2); IVB (T1-4, N0-3, M1, B0-2). T1: Limited patches, papules, and/or plaques covering less than 10% of the skin surface. May further stratify into T1a (patch only) vs. T1b (plaque +/- patch). T2: Patches, papules, or plaques covering 10% or more of the skin surface. May further stratify into T2a (patch only) vs. T2b (plaque +/- patch). T3: One or more tumors (equal or greater than 1 cm diameter). T4: Confluence of erythema covering 80% or more of body surface area. N0: No clinically abnormal peripheral lymph nodes; biopsy not required. N1: Clinically abnormal peripheral lymph nodes; histopathology Dutch grade 1 or NCI LN0-2. N2: Clinically abnormal peripheral lymph nodes; histopathology Dutch grade 2 or NCI LN3. N3: Clinically abnormal peripheral lymph nodes; histopathology Dutch grades 3-4 or NCI LN4; clone positive or negative. M0: No visceral organ involvement. M1: Visceral involvement (must have pathology confirmation and organ involved should be specified). B0: Absence of significant blood involvement: 5% or less of peripheral blood lymphocytes are atypical (Sezary cells). B1: Low blood tumor burden: more than 5% of peripheral blood lymphocytes are atypical (Sezary cells) but does not meet the criteria of B2. B2: High blood tumor burden: 1000/microL Sezary cells or more with positive clone. (AJCC 7th ed.)|NCI|N|
C0862312|A malignant neoplasm arising from mesothelial cells. It is characterized by the presence of cells with epithelioid morphology. The epithelioid cells usually have eosinophilic cytoplasm, bland nuclei, and form tubulopapillary, microglandular, or sheet-like patterns.|NCI|N|
C0862326|The reemergence of a malignant bladder neoplasm after a period of remission.|NCI|N|
C0862335|The reemergence of bladder urothelial carcinoma after a period of remission.|NCI|N|
C0862402|Stage II includes: (T2a, N0, M0); (T2b, N0, M0). T2a: Tumor invades superficial muscle (inner half). T2b: Tumor invades deep muscle (outer half). N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th Eds.)|NCI|N|
C0862417|Stage III includes: (T3a, N0, M0); (T3b, N0, M0); (T4a, N0, M0). T3a: Tumor microscopically invades perivesical tissue. T3b: Tumor macroscopically invades perivesical tissue (extravesical mass). T4a: Tumor invades prostatic stroma, uterus, vagina. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C0862432|Stage IV includes: (T4b, N0, M0); (Any T, N1-3, M0); (Any T, Any N, M1). T4b: Tumor invades pelvic wall, abdominal wall. N0: No regional lymph node metastasis. N1: Single regional lymph node metastasis in the true pelvis (hypogastric, obturator, external iliac, or presacral lymph node). N2: Multiple regional lymph node metastases in the true pelvis (hypogastric, obturator, external iliac, or presacral lymph node metastasis). N3: Metastasis to the common iliac lymph nodes. M0: No distant metastasis. M1: Distant metastasis. (AJCC 7th ed.)|NCI|N|
C0862448|Stage IV includes: (T4, N0, M0); (T4, N1, M0); (Any T, N2, M0); (Any T, Any N, M1). T4: Tumor invades beyond Gerota''s fascia. N0: No regional lymph node metastases. N1: Metastasis in a single regional lymph node. N2: Metastasis in more than one regional lymph node. M0: No distant metastasis. M1: Distant metastasis. (AJCC 6th ed.)|NCI|N|
C0862458|Ureter urothelial carcinoma that has spread to another anatomical site.|NCI|N|
C0862460|The reemergence of ureter urothelial carcinoma after a period of remission.|NCI|N|
C0862468|The reemergence of urethral urothelial carcinoma after a period of remission.|NCI|N|
C0862489|An adenocarcinoma which originated in the endometrium and has spread to another anatomic site.|NCI|N|
C0862490|An endometrioid adenocarcinoma that has spread from its original site of growth to another anatomic site.|NCI|N|
C0862493|The reemergence of endometrial adenocarcinoma after a period of remission.|NCI|N|
C0862601|An adenocarcinoma that arises from the vagina and has metastasized to other anatomic sites.|NCI|N|
C0862630|Squamous cell carcinoma of the penis that has spread from its original site of growth to another anatomic site.|NCI|N|
C0862636|An adenocarcinoma that arises from the prostate gland and has spread to other anatomic sites.|NCI|N|
C0862638|The reemergence of prostate adenocarcinoma after a period of remission.|NCI|N|
C0862640|Stage I includes: (T1a-c, N0, M0, PSA less than 10, Gleason equal or less than 6); (T2a, N0, M0, PSA less than 10, Gleason equal or less than 6); (T1-2a, N0, M0, PSA X, Gleason X). T1a: Tumor incidental histologic finding in 5% or less of tissue resected. T1b: Tumor incidental histologic finding in more than 5% of tissue resected. T1c: Tumor identified by needle biopsy (e.g., because of elevated PSA). T2a: Tumor involves one-half of one lobe or less. cN0: No regional lymph node metastasis. pN0: No positive regional nodes. M0: No distant metastasis. Gleason Equal or Less than 6: Well differentiated (slight anaplasia). Gleason X: Gleason score cannot be processed. (AJCC 7th ed.)|NCI|N|
C0862641|Stage II includes: IIA (T1a-c, N0, M0, PSA less than 20, Gleason 7); (T1a-c, N0, M0, PSA equal or more than 10 and less than 20, Gleason equal or less than 6); (T2a, N0, M0, PSA less than 20, Gleason equal or less than 7); (T2b, N0, M0, PSA less than 20, Gleason equal or less than 7); (T2b, N0, M0, PSA X, Gleason X); IIB (T2c, N0, M0, Any PSA, Any Gleason); (T1-2, N0, M0, PSA equal or more than 20, Any Gleason); (T1-2, N0, M0, Any PSA, Gleason equal or more than 8). T1a: Tumor incidental histologic finding in 5% or less of tissue resected. T1b: Tumor incidental histologic finding in more than 5% of tissue resected. T1c: Tumor identified by needle biopsy (e.g., because of elevated PSA). T2a: Tumor involves one-half of one lobe or less. T2b: Tumor involves more than one-half of one lobe, but not both lobes. T2c: Tumor involves both lobes. cN0: No regional lymph node metastasis. pN0: No positive regional nodes. M0: No distant metastasis. Gleason 7: Moderately differentiated (moderate anaplasia). Gleason Equal or Less than 6: Well differentiated (slight anaplasia). Gleason equal or more than 8: Poorly differentiated/undifferentiated (marked anaplasia). (AJCC 7th ed.)|NCI|N|
C0862642|Stage III includes: T3a-b, N0, M0, Any PSA, Any Gleason. cT3a: Tumor with extracapsular extension (unilateral or bilateral). pT3a: Tumor with extraprostatic extension or microscopic invasion of bladder neck. T3b: Tumor invades seminal vesicle(s). cN0: No regional lymph node metastasis. pN0: No positive regional nodes. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C0862643|Stage IV includes: (T4, N0, M0, Any PSA, Any Gleason); (Any T, N1, M0, Any PSA, Any Gleason); (Any T, Any N, M1, Any PSA, Any Gleason). cT4: Tumor is fixed or invades adjacent structures other than seminal vesicles such as external sphincter, rectum, bladder, levator muscles, and/or pelvic wall. pT4: Invasion of rectum, levator muscles, and/or pelvic wall. N1: Metastasis in regional lymph node(s). M1: Distant metastasis. (AJCC 7th ed.)|NCI|N|
C0862719|A carcinoma that arises from the larynx and has metastasized to another anatomic site.|NCI|N|
C0862779|Stage IIIA includes: (T1a, N2, M0); (T1b, N2, M0); (T2a, N2, M0); (T2b, N2, M0); (T3, N1, M0); (T3, N2, M0); (T4, N0, M0); (T4, N1, M0). T4: Lung cancer with a tumor of any size that invades any of the following: mediastinum, heart, great vessels, trachea, recurrent laryngeal nerve, esophagus, vertebral body, carina, and separate tumor nodule(s) in a different ipsilateral lobe. N1: Lung cancer with metastasis in ipsilateral peribronchial and/or ipsilateral hilar lymph nodes and intrapulmonary lymph nodes, including involvement by direct extension. N2: Lung cancer with metastasis to ipsilateral mediastinal and/or subcarinal lymph nodes. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C0862780|Stage IIIB includes: (T1a, N3, M0); (T1b, N3, M0); (T2a, N3, M0); (T2b, N3, M0); (T3, N3, M0); (T4, N2, M0); (T4, N3, M0). T4: Lung cancer with a tumor of any size that invades any of the following: mediastinum, heart, great vessels, trachea, recurrent laryngeal nerve, esophagus, vertebral body, carina, and separate tumor nodule(s) in a different ipsilateral lobe. N2: Lung cancer with metastasis to ipsilateral mediastinal and/or subcarinal lymph nodes. N3: Lung cancer with metastasis to contralateral mediastinal, contralateral hilar, ipsilateral or contralateral scalene, or supraclavicular lymph nodes. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C0862792|Stage IIIA includes: (T1a, N2, M0); (T1b, N2, M0); (T2a, N2, M0); (T2b, N2, M0); (T3, N1, M0); (T3, N2, M0); (T4, N0, M0); (T4, N1, M0). T4: Lung cancer with a tumor of any size that invades any of the following: mediastinum, heart, great vessels, trachea, recurrent laryngeal nerve, esophagus, vertebral body, carina, and separate tumor nodule(s) in a different ipsilateral lobe. N1: Lung cancer with metastasis in ipsilateral peribronchial and/or ipsilateral hilar lymph nodes and intrapulmonary lymph nodes, including involvement by direct extension. N2: Lung cancer with metastasis to ipsilateral mediastinal and/or subcarinal lymph nodes. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C0862793|Stage IIIB includes: (T1a, N3, M0); (T1b, N3, M0); (T2a, N3, M0); (T2b, N3, M0); (T3, N3, M0); (T4, N2, M0); (T4, N3, M0). T4: Lung cancer with a tumor of any size that invades any of the following: mediastinum, heart, great vessels, trachea, recurrent laryngeal nerve, esophagus, vertebral body, carina, and separate tumor nodule(s) in a different ipsilateral lobe. N2: Lung cancer with metastasis to ipsilateral mediastinal and/or subcarinal lymph nodes. N3: Lung cancer with metastasis to contralateral mediastinal, contralateral hilar, ipsilateral or contralateral scalene, or supraclavicular lymph nodes. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C0862878|An aggressive morphologic variant of chondrosarcoma. It is composed of a low grade chondrosarcoma and a high grade non-cartilagenous sarcomatous component. Due to the aggressive nature of the disease, its prognosis is poor.|NCI|N|
C0862887|A type of basal cell carcinoma of the skin. It appears as a flesh-colored papule with telangiectatic vessels on its surface. It grows slowly; as it enlarges it becomes necrotic forming a central ulcer with raised borders.|NCI|N|
C0862889|A variant of basal cell carcinoma of the skin presenting as erythematous, often multiple patches. Morphologically, it is characterized by the presence of superficial lobules of basaloid cells projecting into the dermis. The basaloid cell lobules are surrounded by myxoid stroma and are usually confined to the papillary dermis.|NCI|N|
C0862953|Cholangiocarcinoma that is not amenable to surgical resection.|NCI|N|
C0862967|The reemergence of cholangiocarcinoma after a period of remission.|NCI|N|
C0862970|Bile duct adenocarcinoma that is amenable to surgical resection.|NCI|N|
C0862981|Cholangiocarcinoma that is amenable to surgical resection.|NCI|N|
C0863015|A urothelial carcinoma that arises from the male or female urethra.|NCI|N|
C0863024|A rare adenocarcinoma that arises from the rete testis. It usually presents with a scrotal mass or lumbar pain.|NCI|N|
C0863027|A sex cord-stromal tumor that arises from the testis and is characterized by the presence of cells that resemble the successive stages of development of Leydig cells. It usually presents as a painless testicular mass. Gynecomastia is present in approximately thirty percent of the cases. Libido may be decreased. In children, precocious puberty may be present. A minority of cases exhibit malignant characteristics.|NCI|N|
C0863029|Ewing sarcoma that is confined to a specific site without evidence of spread to other anatomic sites.|NCI|N|
C0863127|A leukemia arising as a result of the mutagenic effect of chemotherapy agents that are used for the treatment of a malignant tumor.|NCI|N|
C0863168|The reemergence of gastric adenocarcinoma after a period of remission.|NCI|N|
C0863183|The reemergence of laryngeal carcinoma after a period of remission.|NCI|N|
C0863185|A syndrome characterized by abnormal secretion of chorionic gonadotropin in conjunction with neoplastic growth occurring anywhere in the body.|NCI|N|
C0863193|T4,N2,MO (from PDQ)|NCI|N|
C0863194|A hepatocellular carcinoma that is amenable to surgical resection.|NCI|N|
C0863198|Stage I bladder carcinoma associated with the presence of bladder carcinoma in situ.|NCI|N|
C0863199|Stage I includes: T1, N0, M0. T1: Tumor invades subepithelial connective tissue. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C0864946|A primary or metastatic malignant neoplasm that affects the gastric fundus.|NCI|N|
C0864950|A primary or metastatic malignant neoplasm that affects the broad or other uterine ligaments.|NCI|N|
C0865093|A neoplasm that arises from the broad or other uterine ligaments and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C0865181|The development of male secondary sexual characteristics (such as hirsutism, deepening of the voice, or clitoral enlargement) in girls or adult females.|NCI|N|
C0865214|A genetically heterogenous group of primary immunodeficiencies characterized by low or absent circulating antibodies/or and low or absent B-cells.|NCI|N|
C0865350|Addiction to methylphenidate.|HPO|N|
C0865849|Diffuse replacement of the lung tissue by connective tissue.|NCI|N|
C0866108|A renal functional disorder characterized by proteinuria, edema, hyperlipidemia and hypoalbuminemia. It results from damage to the renal vascular filtration apparatus. It is further characterized by scarring of some of the glomerular capillaries. Sequelae may include hypertension, atherosclerosis, infection, hypercoagulablity and renal failure.|NCI|N|
C0866110|A renal functional disorder characterized by proteinuria, edema, hyperlipidemia and hypoalbuminemia. It results from damage to the renal vascular filtration apparatus. It is further characterized by an inflammatory reaction in the filtering capillaries and the deposition of plasma components between the endothelium and glomerular basement membrane. Sequelae may include hypertension, atherosclerosis, infection, hypercoagulablity and renal failure.|NCI|N|
C0866111|A renal functional disorder characterized by proteinuria, edema, hyperlipidemia and hypoalbuminemia. It results from damage to the renal vascular filtration apparatus. It is further characterized by an inflammatory reaction in the endovascular lining of the glomerular capillaries. Sequelae may include hypertension, atherosclerosis, infection, hypercoagulablity and renal failure.|NCI|N|
C0866112|Nephrotic syndrome caused by glomerulonephritis associated with complement deficiency. It can result from an acute post-infectious glomerulonephritis, membranoproliferative glomerulonephritis or lupus glomerulonephritis.|NCI|N|
C0866113|A renal functional disorder characterized by proteinuria, edema, hyperlipidemia and hypoalbuminemia. It results from damage to the renal vascular filtration apparatus. It is further characterized by a chronic inflammatory reaction in the glomerular capillaries. Sequelae may include hypertension, atherosclerosis, infection, hypercoagulablity and renal failure.|NCI|N|
C0867389|A syndrome of immunologically mediated tissue damage that may occur following an allogeneic transplant, and may affect multiple organs with manifestations similar to autoimmune diseases. The onset is usually within three years of transplantation or immunologic manipulation.|NCI|N|
C0868908|Inflammation of the entire colon.|HPO|N|
C0869474|A specific learning disability involving mathematics and arithmetic.|HPO|N|
C0869523|Inflammation of the heart or its surroundings. (ACC-AHA)|NCI|N|
C0869532|The inheritance of only one mutated beta-globin allele (beta+ or beta0).|MONDO|N|
C0870082|Hyperkeratosis is thickening of the outer layer of the skin, the stratum corneum, which is composed of large, polyhedral, plate-like envelopes filled with keratin which are the dead cells that have migrated up from the stratum granulosum.|HPO|N|
C0870101|The continuous sequential physiological and psychological changes during ADOLESCENCE, approximately between the age of 13 and 18.|MSH|N|
C0870281|A mental illness that persists for a prolonged period of time. Use a more specific term if possible.|PSY|N|
C0870689|An indication of the position on a scale measuring compensation or monetary support.|NCI|N|
C0870816|Limited ability to communicate with or understand English.|MSH|N|
C0871007|Fear of snakes.|PSY|N|
C0872054|A period in which the infection is present in the host without producing overt symptoms. (from Online Medical Dictionary)|NCI|N|
C0872079|Temporary, non-covalent binding between protein molecules. Protein-protein interactions occur as a result of intermolecular physical forces and spatial complementation between domains or motifs. This interaction can be either homotypic or heterotypic and effect protein structure, conformation, and function.|NCI|N|
C0872084|A condition characterised by loss of skeletal muscle mass, primarily in the elderly but can be associated with other conditions that are not exclusively seen in older people.|SNOMEDCT_US|N|
C0872150|A DNA Strand Break involves one or more disruptions of the covalent linkages among phosphodeoxyribose moieties within the sugar-phosphate backbone in one or in both strands of a DNA molecule.|NCI|N|
C0872173|An impairment that causes an individual to require assistance in order to perform an activity.|NCI|N|
C0872218|Syndrome with the association of gastrointestinal dysmotility, peripheral neuropathy, chronic progressive external ophthalmoplegia and leukoencephalopathy. The symptoms are progressive and the clinical picture is dominated by severe gastrointestinal disorders due to abnormal bowel motility. Morphological studies of the muscles reveal the presence of a low proportion of muscle fibres with mitochondrial proliferation (ragged-red fibres) or cytochrome c oxidase deficiency. Inherited in an autosomal recessive manner and is caused by mutations in the TYMP gene (22q13.32-qter).|SNOMEDCT_US|N|
C0872315|Infectious diseases that are novel in their outbreak ranges (geographic and host) or transmission mode.|MSH|N|
C0876973|An acute or chronic infectious process affecting the lungs.|NCI|N|
C0876991|Phagocytosis by macrophages of erythrocytes, leukocytes, platelets, and their precursors in bone marrow and other tissues.|HPO|N|
C0877015|Weakness in the supporting structures of the pelvic floor allowing the pelvic viscera to descend or one or more of the pelvic organs drop from their normal position.|HPO|N|
C0877017|A bilateral tonic-clonic seizure with focal onset is a focal-onset seizure which progresses into a bilateral tonic-clonic phase.|HPO|N|
C0877024|Schimke immunoosseous dysplasia (SIOD) is characterized by spondyloepiphyseal dysplasia (SED) resulting in short stature, nephropathy, and T-cell deficiency. Radiographic manifestations of SED include ovoid and mildly flattened vertebral bodies, small ilia with shallow dysplastic acetabular fossae, and small deformed capital femoral epiphyses. Nearly all affected individuals have progressive steroid-resistant nephropathy, usually developing within five years of the diagnosis of growth failure and terminating with end-stage renal disease. The majority of tested individuals have T-cell deficiency and an associated risk for opportunistic infection, a common cause of death. SIOD involves a spectrum that ranges from an infantile or severe early-onset form with a greater risk of death during childhood to a juvenile or milder later-onset form with likely survival into adulthood if renal disease is appropriately treated.|GeneReviews|N|
C0877027|Decreased joint flexibility.|NCI|N|
C0877038|An electrocardiographic finding of a lack of progression of R wave height across precordial leads. (CDISC)|NCI|N|
C0877046|An infectious process affecting a tooth.|NCI|N|
C0877055|A rare toxic dermatosis disease characterized by the rapid development of numerous, nonfollicular, sterile, pinhead-sized pustules on an edematous and erythematous base, predominantly occurring on the trunk, intertriginous and flexural areas, with rare, mostly oral, mucosal involvement. Acute onset of fever (>38°C), peripheral blood leukocytosis, and mild eosinophilia are accompanying features. Systemic involvement, with hepatic, renal or pulmonary dysfunction, occasionally occurs. Histologically reveals characteristic spongiform, subcorneal and/or intraepidermal, pustules, as well as marked edema of the papillary dermis, a perivascularly accentuated, neutrophil-rich inflammatory infiltrate, and intrapustular or intradermal eosinophils.|ORDO|N|
C0877087|Small areas of bleeding (hemorrhage) under the fingernail or toenail.|HPO|N|
C0877117|Inflammation of stomach that is associated with cytomegalovirus.|NCI|N|
C0877119|Inflammation of the esophagus that is associated with cytomegalovirus.|NCI|N|
C0877121|A non-neoplastic or neoplastic disorder arising as a result of the immunologic defects caused by Autoimmune Deficiency Syndrome.|NCI|N|
C0877149|A syndrome characterized by retropatellar or peripatellar pain resulting from physical and biochemical changes in the patellofemoral joint. The pain is most prominent when ascending or descending stairs, squatting, or sitting with flexed knees. There is a lack of consensus on the etiology and treatment. The syndrome is often confused with (or accompanied by) chondromalacia patellae, the latter describing a pathological condition of the cartilage and not a syndrome.|MONDO|N|
C0877152|A variant of phlegmonous gastritis, typically progressing to gastric gangrene.|NCI|N|
C0877165|Short (hypoplastic) phalanx of finger, affecting one or more phalanges.|HPO|N|
C0877168|Any deviation from the normal ratio of the volume of red blood cells to the total volume of blood.|HPO|N|
C0877172|A collection of blood into the space between the dura mater and the skull.|NCI|N|
C0877192|An instance of lipodystrophy (disease) that is acquired during the lifetime of the individual.|MONDO|N|
C0877195|The development of secondary female sex characteristics in males due to extrinsic factors.|NCI|N|
C0877203|A respiratory tract infection caused by a virus. Viruses represent the most common causes of upper and lower respiratory tract infections and include rhinoviruses, influenza viruses, parainfluenza viruses, and respiratory syncytial virus.|NCI|N|
C0877208|Peripartum cardiomyopathy (PPCM) is an idiopathic, potentially fatal form of dilated cardiomyopathy that develops during the final month of pregnancy or within five months after delivery.|ORDO|N|
C0877217|A severe form of gait ataxia such that an affected person cannot walk at all.|HPO|N|
C0877223|A finding of blood leakage from the intestinal stoma.|NCI|N|
C0877225|A laboratory finding indicating the presence of lower than normal bone mineral density.|NCI|N|
C0877243|A increased concentration of serotonin in the blood.|HPO|N|
C0877248|Any unfavorable or unintended disease, sign, or symptom (including an abnormal laboratory finding) that is temporally associated with the use of a medical treatment or procedure, and that may or may not be considered related to the medical treatment or procedure. Such events can be related to the intervention, dose, route of administration, patient, or caused by an interaction with another drug(s) or procedure(s).|NCI|N|
C0877294|A malignant neoplasm that has spread to the placenta from another anatomic site.|NCI|N|
C0877303|Pain experienced after a medical intervention through the time expected for associated acute effects to abate.|NCI|N|
C0877326|Ischemic necrosis of the bone tissue and the marrow.|NCI|N|
C0877355|A carcinoma that arises from the gallbladder and it has not spread to other anatomic sites.|NCI|N|
C0877357|The reemergence of gallbladder carcinoma after a period of remission.|NCI|N|
C0877367|An anatomic abnormality of the thyroid gland.|NCI|N|
C0877373|A malignant neoplasm that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C0877388|A hemangioma arising from the cerebral hemisphere.|NCI|N|
C0877430|An asthma that is characterized by the development of persistent airway inflammation and recurrent attacks of breathlessness and wheezing, which vary in severity and frequency.|MONDO|N|
C0877445|A form of invasive candidiasis where species of candida are present in the blood.|MONDO|N|
C0877523|A non-congenital condition in which the head circumference is two standard deviations greater than the mean. Causes include infection, intraventricular hemorrhage, subdural hematoma, and arachnoid cysts.|NCI|N|
C0877550|Accumulation of fluid in the peritoneal cavity resulting from the growth of primary or metastatic carcinoma in the peritoneum.|NCI|N|
C0877572|A benign neoplasm of the ovary characterized by the presence of cystic structures lined by serous epithelial cells in a fibrotic stroma.|NCI|N|
C0877578|The development of a malignant neoplasm in response to medical or surgical treatment, induced by the treatment itself.|NCI|N|
C0877611|An aggressive malignant tumor of melanocytic origin that arises from the cervix.|NCI|N|
C0877717|An intense sensation of burning, scalding, or tingling feeling of the tongue or other regions of the oral mucosa.|HPO|N|
C0877792|A sleep disorder characterized by persistent sleep disruption (excessive sleepiness and/or insomnia) that is due to a conflict between the individual''s internal sleep-wake system and the demands of his or her environment regarding the timing and duration of sleep.|NCI|N|
C0877849|A primitive neuroectodermal tumor (small round blue cell tumor) of the thorax which can involve the periosteum, thoracic wall and/or pleura though it spares the lung parenchyma.|NCI|N|
C0877855|Embolism or thrombosis occurring in a cerebral vessel often leading to cerebral infarction.|MSH|N|
C0877858|A leukemia characterized by the absence of leukemic cells in the peripheral blood.|NCI|N|
C0878486|The thickening of the wall of the small arteries and arterioles. It is caused by deposition of hyaline material in the wall or concentric smooth muscle wall hypertrophy. It results in lumen narrowing and tissue ischemia.|NCI|N|
C0878500|A precancerous neoplastic process that affects the squamous, glandular, or transitional cell epithelium without evidence of invasion. According to the degree of nuclear atypia, number of mitotic figures, and presence of architectural distortion, it is classified as low grade (mild dysplasia) or high grade (moderate or severe dysplasia).|NCI|N|
C0878524|A neuroblastoma arising from the peripheral nervous system.|NCI|N|
C0878544|A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality.|HPO|N|
C0878552|Diffuse dilation of a coronary artery segment.|NCI|N|
C0878555|Diffuse panbronchiolitis (DPB) is a rare chronic inflammatory obstructive pulmonary disease primarily affecting the respiratory bronchioles. 'Diffuse' refers to the distribution of the lesions throughout both lungs, and 'pan-' refers to the involvement of inflammation in all layers of the respiratory bronchioles. Onset of the disorder occurs in the second to fifth decade of life, and is clinically manifest by chronic cough, exertional dyspnea, and sputum production. Most patients also have chronic paranasal sinusitis. If untreated, the disorder progresses to bronchiectasis, respiratory failure, and death (summary by Poletti et al., 2006).|OMIM|N|
C0878575|A loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system.|HPO|N|
C0878576|An acute or subacute reversible condition characterized by headaches, mental status changes, visual disturbances, and seizures associated with imaging findings of posterior leukoencephalopathy. It has been observed in association with hypertensive encephalopathy, eclampsia, and immunosuppressive and cytotoxic drug treatment.|MONDO|N|
C0878578|Also known as shaky legs syndrome, this is a rare movement disorder with characteristics of fast, task-specific tremor, affecting the legs and trunk while standing. The prevalence is unknown. To date, around 390 cases have been reported in the literature. Women are predominantly affected (sex ratio: 2:1) with disease onset occurring in middle aged or elderly people. At present, the pathophysiology is unknown. The disorder is sporadic but exceptional familial cases have been reported.|SNOMEDCT_US|N|
C0878585|Metastatic lesion of the UMBILICUS associated with intra-abdominal neoplasms especially of the GASTROINTESTINAL TRACT or OVARY.|MSH|N|
C0878588|Organic or functional motility disorder involving the SPHINCTER OF ODDI and associated with biliary COLIC. Pathological changes are most often seen in the COMMON BILE DUCT sphincter, and less commonly the PANCREATIC DUCT sphincter.|MSH|N|
C0878638|Any abnormality of the tongue.|HPO|N|
C0878640|A decreased concentration of potassium(1+) in the urine.|HPO|N|
C0878649|A non-neoplastic polyp that arises from the stomach and is characterized by the presence of dilated gastric foveoli, edematous changes, and inflammation.|NCI|N|
C0878654|Autoimmune oophoritis is a rare cause of primary ovarian insufficiency (POI). It happens when the body's immune system mistakenly attacks the ovaries causing inflammation, atrophy and fibrosis. These changes stop the ovaries from working normally. The main symptoms of autoimmune oophorotis are irregular or absent menstrual period (amenorrhea) and symptoms related to ovarian cysts such as abdominal cramping, bloating, nausea and vomiting. Autoimmune oophoritis may occur as part of autoimmune polyglandular syndrome type I and type II but has also been associated with lupus, pernicious anemia, myasthenia gravis and other autoimmune conditions. The underlying cause of autoimmune oophoritis is unknown. Diagnosis involves a special blood test which looks for anti-steroid or anti-ovarian antibodies, a pelvic ultrasound to look for enlarged cystic ovaries and tests to rule out other possible causes of POI. Management of autoimmune oophoritis involves emotional support, possible estrogen replacement therapy and management of other autoimmune conditions.|MONDO|N|
C0878658|A skin change elicited by briskly rubbing the skin lesion in urticaria pigmentosa (UP), whereby the area begins to itch and becomes raised and surrounded by erythema. Unlike other forms of dermatographism, Darier's sign refers to urtication that is limited to the UP involved areas and, as in this case, spares the skin unaffected by UP.|HPO|N|
C0878659|A kind of short stature in which different regions of the body are shortened to differing extents.|HPO|N|
C0878660|A kind of short stature in which different regions of the body are shortened to a comparable extent.|HPO|N|
C0878666|Analbuminemia (ANALBA) is a rare autosomal recessive disorder manifested by the presence of a very low amount of circulating serum albumin. Affected individuals have few clinical symptoms other than mild edema, hypotension, fatigue, and occasionally a peculiar lower body lipodystrophy (mainly in adult females). The most common biochemical finding is a gross hyperlipidemia, with a significant increase in the total and LDL cholesterol concentrations, but normal concentrations of HDL cholesterol and triglycerides. Analbuminemia often leads to fetal or neonatal death in sibs in families of analbuminemic individuals, which may explain the rarity of the trait (summary by Caridi et al., 2014).|OMIM|N|
C0878675|Erdheim-Chester disease (ECD), a non-Langerhans form of histiocytosis, is a multisystemic disease characterized by various manifestations such as skeletal involvement with bone pain, exophthalmos, diabetes insipidus, renal impairment and central nervous system (CNS) and/or cardiovascular involvement.|ORDO|N|
C0878676|Tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia (HPA) comprises a genetically heterogeneous group of progressive neurologic disorders caused by autosomal recessive mutations in the genes encoding enzymes involved in the synthesis or regeneration of BH4. BH4 is a cofactor for phenylalanine hydroxylase (PAH; 612349), tyrosine hydroxylase (TH; 191290) and tryptophan hydroxylase (TPH1; 191060), the latter 2 of which are involved in neurotransmitter synthesis. The BH4-deficient HPAs are characterized phenotypically by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits (Dudesek et al., 2001).
HPABH4A, caused by mutations in the PTS gene, represents the most common cause of BH4-deficient hyperphenylalaninemia (Dudesek et al., 2001). Other forms of BH4-deficient HPA include HPABH4B (233910), caused by mutation in the GCH1 gene (600225), HPABH4C (261630), caused by mutation in the QDPR gene (612676), and HPABH4D (264070), caused by mutation in the PCBD1 gene (126090). Niederwieser et al. (1982) noted that about 1 to 3% of patients with hyperphenylalaninemia have one of these BH4-deficient forms. These disorders are clinically and genetically distinct from classic phenylketonuria (PKU; 261600), caused by mutation in the PAH gene.
Two additional disorders associated with BH4 deficiency and neurologic symptoms do not have overt hyperphenylalaninemia as a feature: dopa-responsive dystonia (612716), caused by mutation in the SPR gene (182125), and autosomal dominant dopa-responsive dystonia (DYT5; 128230), caused by mutation in the GCH1 gene. Patients with these disorders may develop hyperphenylalaninemia when stressed.|OMIM|N|
C0878677|Danon disease is a multisystem condition with predominant involvement of the heart, skeletal muscles, and retina, with overlying cognitive dysfunction. Males are typically more severely affected than females. Males usually present with childhood onset concentric hypertrophic cardiomyopathy that is progressive and often requires heart transplantation. Rarely, hypertrophic cardiomyopathy can evolve to resemble dilated cardiomyopathy. Most affected males also have cardiac conduction abnormalities. Skeletal muscle weakness may lead to delayed acquisition of motor milestones. Learning disability and intellectual disability, most often in the mild range, are common. Additionally, affected males can develop retinopathy with subsequent visual impairment. The clinical features in females are broader and more variable. Females are more likely to have dilated cardiomyopathy, with a smaller proportion requiring heart transplantation compared to affected males. Cardiac conduction abnormalities, skeletal muscle weakness, mild cognitive impairment, and pigmentary retinopathy are variably seen in affected females.|GeneReviews|N|
C0878681|Dent disease, an X-linked disorder of proximal renal tubular dysfunction, is characterized by low molecular weight (LMW) proteinuria, hypercalciuria, and at least one additional finding including nephrocalcinosis, nephrolithiasis, hematuria, hypophosphatemia, chronic kidney disease (CKD), and evidence of X-linked inheritance. Males younger than age ten years may manifest only LMW proteinuria and/or hypercalciuria, which are usually asymptomatic. Thirty to 80% of affected males develop end-stage renal disease (ESRD) between ages 30 and 50 years; in some instances ESRD does not develop until the sixth decade of life or later. The disease may also be accompanied by rickets or osteomalacia, growth restriction, and short stature. Disease severity can vary within the same family. Males with Dent disease 2 (caused by pathogenic variants in OCRL) may also have mild intellectual disability, cataracts, and/or elevated muscle enzymes. Due to random X-chromosome inactivation, some female carriers may manifest hypercalciuria and, rarely, renal calculi and moderate LMW proteinuria. Females rarely develop CKD.|GeneReviews|N|
C0878682|Aceruloplasminemia is characterized by iron accumulation in the brain and viscera. The clinical triad of retinal degeneration, diabetes mellitus (DM), and neurologic disease is seen in individuals ranging from age 30 years to older than 70 years. The neurologic findings of movement disorder (blepharospasm, grimacing, facial and neck dystonia, tremors, chorea) and ataxia (gait ataxia, dysarthria) correspond to regions of iron deposition in the brain. Individuals with aceruloplasminemia often present with anemia prior to onset of DM or obvious neurologic problems. Cognitive dysfunction including apathy and forgetfulness occurs in more than half of individuals with this condition.|GeneReviews|N|
C0878683|PROP1-related combined pituitary hormone deficiency (CPHD) is associated with deficiencies of: growth hormone (GH); thyroid-stimulating hormone (TSH); the two gonadotropins, luteinizing hormone (LH) and follicle-stimulating hormone (FSH); prolactin (PrL); and occasionally adrenocorticotropic hormone (ACTH). At birth, in contrast to individuals with congenital CPHD of other etiologies, neonates with PROP1-related CPHD lack perinatal signs of hypopituitarism. Mean birth weights and lengths are usually within the normal range and neonatal hypoglycemia and prolonged neonatal jaundice are not prevalent findings. Most affected individuals are ascertained because of short stature during childhood. Although TSH deficiency can present shortly after birth, TSH deficiency usually occurs with or after the onset of GH deficiency. Hypothyroidism is usually mild. FSH and LH deficiencies are typically identified at the age of onset of puberty. Affected individuals can have absent or delayed and incomplete secondary sexual development with infertility. Untreated males usually have a small penis and small testes. Some females experience menarche but subsequently require hormone replacement therapy. ACTH deficiency is less common and, when present, usually occurs in adolescence or adulthood. Neuroimaging of hypothalamic-pituitary region usually demonstrates a hypoplastic or normal anterior pituitary lobe and a normal posterior pituitary lobe.|GeneReviews|N|
C0878684|SHORT syndrome is a mnemonic for short stature, hyperextensibility, ocular depression (deeply set eyes), Rieger anomaly, and teething delay. It is now recognized that the features most consistently observed in SHORT syndrome are mild intrauterine growth restriction (IUGR); mild to moderate short stature; partial lipodystrophy (evident in the face, and later in the chest and upper extremities, often sparing the buttocks and legs); and a characteristic facial gestalt. Insulin resistance may be evident in mid-childhood or adolescence, although diabetes mellitus typically does not develop until early adulthood. Other frequent features include Axenfeld-Rieger anomaly or related ocular anterior chamber dysgenesis, delayed dentition and other dental issues, and sensorineural hearing loss.|GeneReviews|N|
C0878773|Symptom of overactive detrusor muscle of the urinary bladder that contracts with abnormally high frequency and urgency. Overactive bladder is characterized by the frequent feeling of needing to urinate during the day, during the night, or both. urinary incontinence may or may not be present.|MONDO|N|
C0878787|Less than normal linear growth in an infant or child.|NCI|N|
C0879257|A familial predisposition for developing bilateral and multifocal type 1 papillary renal carcinoma. Transmitted as an autosomal dominant trait with reduced penetrance, the syndrome is associated with germline mutations in the MET proto-oncogene (7q31).|SNOMEDCT_US|N|
C0879606|An inherited condition characterized by the development of kidney oncocytomas which are often bilateral and multifocal. This condition may be connected to Birt-Hogg-Dube syndrome.|NCI|N|
C0879615|A benign or malignant mesenchymal neoplasm composed of stromal cells. Representative examples include gastrointestinal stromal tumor, endometrial stromal sarcoma, and prostate stromal sarcoma.|NCI|N|
C0879626|The term was used in various ways in the past, to describe unintended effects of medical intervention, usually negative (unfavourable), but also positive (favourable) ones. It is recommended that this term no longer be used and particularly should not be regarded as synonymous with adverse event or adverse reaction.|NCI|N|
C0886477|A malignant germ cell tumor in children arising from the testis. It includes the embryonal carcinoma, yolk sac tumor, choriocarcinoma, and mixed germ cell tumors.|NCI|N|
C0886483|A malignant germ cell tumor in children arising from the ovary. It includes the dysgerminoma, yolk sac tumor, choriocarcinoma, embryonal carcinoma and immature teratoma.|NCI|N|
C0886487|The reemergence of a malignant germ cell tumor in children after a period of remission.|NCI|N|
C0887833|Carcinoma that arises from the PANCREATIC DUCTS. It accounts for the majority of cancers derived from the PANCREAS.|MSH|N|
C0887846|Infiltration of the skin and subcutaneous tissue by leukemic cells without evidence of leukemia in the bone marrow and peripheral blood. It results in clinically identifiable skin lesions. It may be the first manifestation of acute leukemia, preceding the involvement of the bone marrow and peripheral blood by the leukemic process.|NCI|N|
C0887850|Polycystic liver disease-1 is an autosomal dominant condition characterized by the presence of multiple liver cysts of biliary epithelial origin. Although the clinical presentation and histologic features of polycystic liver disease in the presence or absence of autosomal dominant polycystic kidney disease (see, e.g., PKD1, 173900) are indistinguishable, PCLD1 is a genetically distinct form of isolated polycystic liver disease (summary by Reynolds et al., 2000). A subset of patients (28-35%) may develop kidney cysts that are usually incidental findings and do not result in clinically significant renal disease (review by Cnossen and Drenth, 2014).
Genetic Heterogeneity of Polycystic Liver Disease
See also PCLD2 (617004), caused by mutation in the SEC63 gene (608648) on chromosome 6q21; PCLD3 (617874), caused by mutation in the ALG8 gene (608103) on chromosome 11p; and PCLD4 (617875), causes by mutation in the LRP5 gene (603506) on chromosome 11q13.|OMIM|N|
C0887866|A type of arteriosclerosis in which calcification of the tunica media is the predominant feature.|NCI|N|
C0887900|Soft tissue tumors or cancer arising from the mucosal surfaces of the lip; oral cavity; pharynx; larynx; and cervical esophagus. Other sites included are the nose and paranasal sinuses; salivary glands; thyroid gland and parathyroid glands; and melanoma and non-melanoma skin cancers of the head and neck. (from Holland et al., Cancer Medicine, 4th ed, p1651)|MONDO|N|
C0887935|Any variance from the expected 1:1 ratio for the expression of the two inherited parental alleles for the same gene.|NCI|N|
C0887940|The sequential location of genes on a chromosome.|MSH|N|
C0887941|A mode of inheritance that is observed for traits related to a gene encoded on the mitochondrial genome. Because the mitochondrial genome is essentially always maternally inherited, a mitochondrial condition can only be transmitted by females, although the condition can affect both sexes. The proportion of mutant mitochondria can vary (heteroplasmy).|HPO|N|
C0887976|Infections with bacteria of the genus CHLAMYDOPHILA.|MSH|N|
C0917713|The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). The mild end of the spectrum includes the phenotypes of asymptomatic increase in serum concentration of creatine phosphokinase (CK) and muscle cramps with myoglobinuria. The severe end of the spectrum includes progressive muscle diseases that are classified as Duchenne/Becker muscular dystrophy when skeletal muscle is primarily affected and as DMD-associated DCM when the heart is primarily affected. Duchenne muscular dystrophy (DMD) usually presents in early childhood with delayed motor milestones including delays in walking independently and standing up from a supine position. Proximal weakness causes a waddling gait and difficulty climbing stairs, running, jumping, and standing up from a squatting position. DMD is rapidly progressive, with affected children being wheelchair dependent by age 12 years. Cardiomyopathy occurs in almost all individuals with DMD after age 18 years. Few survive beyond the third decade, with respiratory complications and progressive cardiomyopathy being common causes of death. Becker muscular dystrophy (BMD) is characterized by later-onset skeletal muscle weakness. With improved diagnostic techniques, it has been recognized that the mild end of the spectrum includes men with onset of symptoms after age 30 years who remain ambulatory even into their 60s. Despite the milder skeletal muscle involvement, heart failure from DCM is a common cause of morbidity and the most common cause of death in BMD. Mean age of death is in the mid-40s. DMD-associated DCM is characterized by left ventricular dilation and congestive heart failure. Females heterozygous for a DMD pathogenic variant are at increased risk for DCM.|GeneReviews|N|
C0917715|Hajdu-Cheney syndrome (HJCYS) is a rare autosomal dominant skeletal disorder characterized by short stature, coarse and dysmorphic facies, bowing of the long bones, and vertebral anomalies. Facial features include hypertelorism, bushy eyebrows, micrognathia, small mouth with dental anomalies, low-set ears, and short neck. There is progressive focal bone destruction, including acroosteolysis and generalized osteoporosis. Additional and variable features include hearing loss, renal cysts, and cardiovascular anomalies (summary by Ramos et al., 1998; Simpson et al., 2011; Isidor et al., 2011).|OMIM|N|
C0917796|Leber hereditary optic neuropathy (LHON) typically presents in young adults as bilateral, painless, subacute visual failure. The peak age of onset in LHON is in the second and third decades of life, with 90% of those who lose their vision doing so before age 50 years. Very rarely, individuals first manifest LHON in the seventh and eighth decades of life. Males are four to five times more likely to be affected than females, but neither sex nor mutational status significantly influences the timing and severity of the initial visual loss. Neurologic abnormalities such as postural tremor, peripheral neuropathy, nonspecific myopathy, and movement disorders have been reported to be more common in individuals with LHON than in the general population. Some individuals with LHON, usually women, may also develop a multiple sclerosis-like illness.|GeneReviews|N|
C0917798|Restriction of arterial blood supply to the brain associated with insufficient oxygenation to support the metabolic requirements of the tissue.|HPO|N|
C0917799|Excessive sleepiness or feeling of sleepiness, or difficulty staying awake despite having had adequate sleep, which persists over several days.|HPO|N|
C0917800|TBC1D24-related disorders comprise a continuum of features that were originally described as distinct, recognized phenotypes: DOORS syndrome (deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures). Profound sensorineural hearing loss, onychodystrophy, osteodystrophy, intellectual disability / developmental delay, and seizures. Familial infantile myoclonic epilepsy (FIME). Early-onset myoclonic seizures, focal epilepsy, dysarthria, and mild-to-moderate intellectual disability. Progressive myoclonus epilepsy (PME). Action myoclonus, tonic-clonic seizures, progressive neurologic decline, and ataxia. Early-infantile epileptic encephalopathy 16 (EIEE16). Epileptiform EEG abnormalities which themselves are believed to contribute to progressive disturbance in cerebral function. Autosomal recessive nonsyndromic hearing loss, DFNB86. Profound prelingual deafness. Autosomal dominant nonsyndromic hearing loss, DFNA65. Slowly progressive deafness with onset in the third decade, initially affecting the high frequencies.|GeneReviews|N|
C0917801|Persistent difficulty initiating or maintaining sleep.|HPO|N|
C0917804|Arteriovenous malformations of the brain are tortuous, morphologically abnormal vascular channels between arteries and veins that lack an intervening capillary network, allowing high-pressure arterial blood from feeding arteries to shunt directly into the venous outflow system. These vascular malformations occur in approximately 15 per 100,000 persons and are a leading cause of hemorrhagic stroke in young adults and children (summary by Nikolaev et al., 2018).|OMIM|N|
C0917808|The absence of wakefulness and consciousness, but in contrast to a coma, there is involuntary opening of the eyes and movements such as teeth grinding, yawning, or thrashing of the extremities.|HPO|N|
C0917813|A rare neural tube closure defect characterized by a skin defect with exposed neural tissue in the area of the spinal column, with or without a protruding sac at the location of the defect. Signs and symptoms are variable depending on the content (only meninges or also spinal cord tissue), location, and severity of the lesion, but may include motor, sensory, and/or sphincter dysfunction, hydrocephalus, and/or skeletal anomalies (e. g. scoliosis, hemivertebrae), among others.|ORDO|N|
C0917814|Impairment of expressive language and relative preservation of receptive language abilities. That is, the patient understands language (speech, writing) but cannot express it.|HPO|N|
C0917875|A pathological condition characterized by the presence of a number of esophageal diverticula in the esophagus.|MONDO|N|
C0917890|A type of pineal parenchymal cell neoplasm that is a mature well-differentiated tumor (WHO grade I).|HPO|N|
C0917967|A functional abnormality of the pupil.|HPO|N|
C0917981|A rare, milder form of amyotrophic lateral sclerosis. It is characterized by a slowly progressive clinical course. Signs and symptoms include muscle weakness, atrophy, and fasciculation.|NCI|N|
C0917990|Dissolution or degeneration of bone tissue of the phalanges of the hand.|HPO|N|
C0917996|A balloon type pouch or bulge in the wall of a cerebral blood vessel.|NCI|N|
C0919267|Ovarian cancer, the leading cause of death from gynecologic malignancy, is characterized by advanced presentation with loco-regional dissemination in the peritoneal cavity and the rare incidence of visceral metastases (Chi et al., 2001). These typical features relate to the biology of the disease, which is a principal determinant of outcome (Auersperg et al., 2001). Epithelial ovarian cancer is the most common form and encompasses 5 major histologic subtypes: papillary serous, endometrioid, mucinous, clear cell, and transitional cell. Epithelial ovarian cancer arises as a result of genetic alterations sustained by the ovarian surface epithelium (Stany et al., 2008; Soslow, 2008).|OMIM|N|
C0919532|A biological process consisting of chromosomal rearrangements and duplications. These phenotypes are often seen in the karyotype of cancer cells, where there is an imbalance between the mechanisms of cell-cycle control and mutation rates within aberrant genes. Ataxia telangiectasia is a disease that is resultant from mutations in the ATM gene, which is a cell cycle checkpoint gene. Nijmegen breakage syndrome is also a disease characterized by chromosomal and genomic instability.|NCI|N|
C0919576|A prenatal partial or complete closure of the ductus arteriosus (i.e., prior to delivery).|HPO|N|
C0919607|A well differentiated, low grade neuroendocrine neoplasm (carcinoid tumor) that arises from the duodenum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent.|NCI|N|
C0919624|An indication that the study subject''s partner is pregnant.|NCI|N|
C0919631|Spontaneous DEEP VEIN THROMBOSIS of an upper extremity vein, mostly AXILLARY VEIN; and SUBCLAVIAN VEIN. It is frequently precipitated by repetitive physical activity often in young, healthy adults.|MSH|N|
C0919638|Inflammation of the postauricular lymph nodes.|NCI|N|
C0919659|Infection of the oropharynx with, or disease caused by, Candida, especially C. albicans. This disease usually results from debilitation (as in immunosuppression and especially AIDS), physiologic change, prolonged administration of antibiotics, and iatrogenic and barrier breakage. SYN candidosis, moniliasis.|NCI|N|
C0919691|Breakdown of the connection and subsequent leakage of effluent (fluids, secretions, air) from a SURGICAL ANASTOMOSIS of the digestive, respiratory, genitourinary, and cardiovascular systems. Most common leakages are from the breakdown of suture lines in gastrointestinal or bowel anastomosis.|MSH|N|
C0919718|Abnormal calcification of the mitral valve.|HPO|N|
C0919726|A transient increase in blood pressure following a surgical procedure.|NCI|N|
C0919727|A state of consciousness that permits the formation of explicit and implicit memories while under general anesthesia.|NCI|N|
C0919737|Any platelet aggregation process that decreases the rate, frequency or extent of platelet aggregation.|NCI|N|
C0919746|A toxicity of hematopoietic stem cell transplantation that manifests as fever, rash and pulmonary deterioration which becomes evident at marrow engraftment. It occurs unexpectedly and is occasionally fatal. It can occur after an autogeneic or an allogeneic hematopoietic cell transplantation.|NCI|N|
C0919747|Excessive or uncontrolled release of proinflammatory cytokines.|HPO|N|
C0919785|A below normal level of saturation of serum transferrin with iron.|HPO|N|
C0919797|An infection of the lymph nodes in the axilla.|NCI|N|
C0919833|A disease caused by infection with Ross River virus.|MONDO|N|
C0919874|Bleeding occurring after a medical intervention.|NCI|N|
C0919881|Fetal embryopathy associated with maternal angiotensis converting enzyme (ACE) inhibitor use during pregnancy that may include fetal acute renal failure, growth restriction, oligohydramnios, calvaria abnormalities, preterm birth, and pulmonary hypoplasia with respiratory distress.|NCI|N|
C0919890|Increased concentration of fibrinogen in the blood.|HPO|N|
C0919896|A granulocytic sarcoma composed primarily of myeloblasts (WHO 2001).|NCI|N|
C0919907|An infectious process affecting the pleura.|NCI|N|
C0919912|Reduced fluid intake (drinking) in a clinical situation where the plasma molarity or sodium concentration normally would induce greater fluid intake.|HPO|N|
C0919932|An in vitro decrease in the platelet count.|SNOMEDCT_US|N|
C0919935|An abscess that is located in the adrenal gland.|NCI|N|
C0919974|Abulia is a severe form of apathy, characterized by difficulty in initiating and sustaining spontaneous movements, as well as reductions in emotional responsiveness, spontaneous speech, and social interaction.|HPO|N|
C0919997|An abnormal thickening of the Achilles tendon.|HPO|N|
C0920028|The reemergence of leukemia after a period of remission.|NCI|N|
C0920048|A decrease in the ability to maintain sustained attention is characterized by reduced alertness.|HPO|N|
C0920064|An indication that platelet counts were not increased following one or more transfusions.|NCI|N|
C0920079|A heart murmur that occurs during the last half of the ventricular filling phase. This may or may not extend to the first heart sound.|NCI|N|
C0920155|An electrocardiographic finding of the Q axis from +90 to +180 degrees.|NCI|N|
C0920165|Complications related to damage at the vascular access site. Examples include bleeding, formation of hematoma, aneurysm, pseudoaneurysm, or arteriovenous fistula, development of infection, and catheter thrombosis.|NCI|N|
C0920171|Feeling of grittiness or having something in the eye; frequently caused by a foreign body. Other possible causes include corneal abrasion, corneal ulcer, inturned eye lash or acute conjunctivitis.|NCI|N|
C0920173|An abnormal elevation of the relative proportion of CD4+ to CD8+ T cells.|HPO|N|
C0920182|A rare pulmonary disease characterized by primary or nonbacteremic pneumonia most frequently arising in an intensive care setting, or bacteremic pneumonia, which is typically associated with neutropenia. Chronic lower respiratory tract infection with development of episodes of pneumonia is common in patients with cystic fibrosis. Acute infections are potentially life-threatening. Patients present with fever, chills, dyspnea, cyanosis, productive cough, as well as signs of severe systemic toxicity. Alveolar hemorrhage, necrosis, and, eventually, cavity formation, are commonly seen.|ORDO|N|
C0920184|The most common gastric polyp in the Western hemisphere. The lesion consists of a localized hyperplasia of the deep epithelial compartment of the oxyntic mucosa, with variable degrees of cystic dilatation. Malignant transformation is the exception. (WHO, 2000)|NCI|N|
C0920187|Neuropathy, the cause of which is present at birth.|NCI|N|
C0920196|A carcinoma that arises from the eyelid. Examples include basal cell carcinoma and squamous cell carcinoma.|NCI|N|
C0920207|A non-invasive neoplastic process that affects the epithelium of any part of the digestive system. It is characterized by the presence of morphologic features of dysplasia (e.g., architectural and cytological epithelial alterations) or, in a minority of cases, lack of such morphologic features, as in colonic sessile serrated adenomas/polyps.|NCI|N|
C0920253|A form of DELIRIUM which occurs after GENERAL ANESTHESIA.|MSH|N|
C0920269|Genomic instability associated with the presence of hypermutability in specific genetic marker regions resulting from defective DNA mismatch repair.|NCI|N|
C0920299|Describes a foot digit resting on the dorsal surface of an adjacent digit when the foot is at rest. Initially clawing may be dynamic and only noticeable on walking. Over time the plantar plate tears, subluxation occurs at the metatarsophalangeal joint (MTPJ), and the deformity becomes permanent.|HPO|N|
C0920305|A rare type of small bowel malignancy, originating in the smooth muscle cells within the muscularis propria or the muscularis mucosa, most often found in the jejunum, and presenting with gastrointestinal bleeding and anemia and sometimes with other non-specific symptoms such as vomiting, nausea, abdominal pain and weakness and spreading to regional lymph nodes in 14% of cases.|SNOMEDCT_US|N|
C0920349|A rare genetic disorder characterized by bone marrow failure, spinal abnormalities, saddle nose, and metaphysical striation.|NCI|N|
C0920350|An inflammatory disorder that affects the thyroid gland. It is characterized by the infiltration of the thyroid parenchyma by lymphocytes. It includes Hashimoto thyroiditis and subacute lymphocytic thyroiditis.|NCI|N|
C0920372|The study of the processes by which normal cells, exposed to ionizing radiation, are transformed into cancer cells.|NCI|N|
C0920506|Cancers caused by exposure to carcinogens in the general environment|NCI|N|
C0920561|A malignancy in which there is a well-documented association between a neoplastic process and a specific infectious agent.|NCI|N|
C0920627|Rare diseases that have not been well studied.|MSH|N|
C0920673|A malignancy in which there is a well-documented association between a neoplastic process and a specific virus as the causative agent.|NCI|N|
C0935572|Course of conduct directed at a specific person that involves repeated (two or more occasions) visual or physical proximity, nonconsensual communication, or verbal, written, or implied threats, or a combination thereof, that would cause a reasonable person fear.|MSH|N|
C0935681|A malignant neoplasm that arises from a site other than the bone marrow and lymphoid tissue.|NCI|N|
C0935805|Stage I includes: IA: (T1, pN0, M0) and IB: (T1, cN0, M0). T1: Primary tumor equal or less than 2 cm in size. pN0: No regional lymph node metastasis by pathologic examination. cN0: No regional lymph node metastasis by clinical examination. M0: No distant metastasis. (AJCC 7th Ed.)|NCI|N|
C0935806|Stage II includes: IIA: (T2/T3, pN0, M0), IIB: (T2/T3, cN0, M0), and IIC: (T4, N0, M0). T2: Primary tumor greater than 2 cm but not more than 5 cm in maximum dimension. T3: Primary tumor over 5 cm in maximum dimension. T4: Primary tumor invades bone, muscle, fascia, or cartilage. pN0: No regional lymph node metastasis by pathologic examination. cN0: No regional lymph node metastasis by clinical examination. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 7th Ed.)|NCI|N|
C0935807|Stage III includes: IIIA: (Any T, N1a, M0) and IIIB: (Any T, N1b/N2, M0). N1a: Micrometastasis in regional lymph nodes. N1b: Macrometastasis in regional lymph nodes. N2: In transit metastasis. M0: No distant metastasis. (AJCC 7th Ed.)|NCI|N|
C0935808|The reemergence of Merkel cell carcinoma after a period of remission.|NCI|N|
C0935909|A carcinoma that arises from the breast and has metastasized to the skin.|NCI|N|
C0936016|Complete androgen insensitivity syndrome (CAIS) is a form of androgen insensitivity syndrome (AIS; see this term), a disorder of sex development (DSD), characterized by the presence of female external genitalia in a 46,XY individual with normal testis development but undescended testes and unresponsiveness to age-appropriate levels of androgens.|ORDO|N|
C0936215|An abnormally decreased concentration of vitamin B6 in the blood circulation.|HPO|N|
C0936223|A carcinoma that arises from the prostate gland and has spread to other anatomic sites.|NCI|N|
C0936248|A benign well circumscribed neoplasm of hyaline cartilage arising from bone or soft tissue. It is characterized by the presence of chondrocytes.|NCI|N|
C0936273|A rare systemic amyloidosis with characteristics of a triad of ophthalmologic, neurologic and dermatologic findings due to the deposition of gelsolin amyloid fibrils in these tissues. Clinical manifestations include corneal lattice dystrophy, cranial neuropathy, especially affecting the facial nerve, bulbar signs, cutis laxa, increased skin fragility and less commonly peripheral neuropathy and renal failure. Caused by mutation in the gelsolin gene (GSN).|SNOMEDCT_US|N|
C0936282|A rare embryonal neoplasm affecting children. It is associated with DICER1 gene mutation. This category includes pituitary gland blastoma and pleuropulmonary blastoma.|NCI|N|
C0940607|A benign adipose tissue neoplasm originating in the colon. It is the second most common benign lesion of the colon after benign adenomatous polyps. Older patients are more likely to be affected, and most lesions are located at the right side of large bowel. Colon lipomas may lead to intestinal obstruction.|NCI|N|
C0940747|Narrowing of the lumen of the pancreatic duct.|NCI|N|
C0940767|An abnormality of the biliary system.|HPO|N|
C0946431|A term used to describe the state or condition of substance use data.|NCI|N|
C0947622|Single or multiple, ovoid or irregular, solid particles that are formed from bile, cholesterol, and calcium in the gallbladder cavity.|NCI|N|
C0947700|Leukopenia that occurs in the neonatal period.|NCI|N|
C0947786|A neoplasm that arises from the male reproductive system and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential. Representative examples include benign prostate phyllodes tumor, benign Sertoli cell tumor, seminal vesicle cystadenoma, and epididymal adenomatoid tumor.|NCI|N|
C0947885|A non-neoplastic dental disorder that is present at birth.|NCI|N|
C0947912|A type of weakness that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.|HPO|N|
C0947964|Bleeding originating in the organs and tissue that aid in reproduction.|NCI|N|
C0948008|A stroke is an acute neurologic event leading to death of neural tissue of the brain and resulting in loss of motor, sensory and/or cognitive function. It is said to be the third leading cause of death in the United States. Gunel and Lifton (1996) noted that about 20% of strokes are hemorrhagic, resulting in bleeding into the brain. Ischemic strokes, resulting from vascular occlusion, account for the majority of strokes.
Bersano et al. (2008) reviewed genetic polymorphisms that have been implicated in the development of stroke. Candidate genes include those involved in hemostasis (see, e.g., F5; 612309), the renin-angiotensin-aldosterone system (see, e.g., ACE; 106180), homocysteine (see, e.g., MTHFR; 607093), and lipoprotein metabolism (see, e.g., APOE; 107741).
See also hemorrhagic stroke, or intracerebral hemorrhage (ICH; 614519).|OMIM|N|
C0948014|Red blood cell distribution width (RDW) is a simple parameter of the standard full blood count and a measure of heterogeneity in the size of circulating erythrocytes. It is provided by automated hematology analyzers and it reflects the range of the red cell size. It is calculated by dividing the standard deviation of erythrocyte volume by the mean corpuscular volume (MCV) and multiplied by 100 to convert to a percentage.|HPO|N|
C0948031|A form of ischemia-reperfusion injury occurring in the early period following transplantation. Significant pathophysiological changes in MITOCHONDRIA are the main cause of the dysfunction. It is most often seen in the transplanted lung, liver, or kidney and can lead to GRAFT REJECTION.|MSH|N|
C0948037|Gastroenteritis resulting from an infection with cytomegalovirus.|NCI|N|
C0948039|Gastritis resulting from bacteria.|NCI|N|
C0948064|Presence of nitrites in the urine.|HPO|N|
C0948065|An infectious process affecting the tissues around the orbit.|NCI|N|
C0948075|An infectious process affecting the anal area.|NCI|N|
C0948089|The term acute coronary syndrome (ACS) refers to any group of clinical symptoms compatible with acute myocardial ischemia and includes unstable angina (UA), non-ST-segment elevation myocardial infarction (NSTEMI), and ST-segment elevation myocardial infarction (STEMI).|HPO|N|
C0948101|A sporadic or less frequently familial neoplasm that arises from the glandular epithelium of the gastrointestinal tract and liver. In the gastrointestinal tract, it manifests as a polypoid or flat circumscribed lesion. Morphologically, it is characterized by a proliferation of neoplastic glandular cells and is associated with dysplasia. Based on the growth pattern, it may be classified as tubular, villous, or tubulovillous. The dysplasia is classified as mild, moderate, or severe. The frequency of malignant transformation depends on the size of the lesion and the degree of dysplasia. Larger gastrointestinal tract adenomas with severe dysplastic changes carry a higher risk of progression to invasive adenocarcinoma. Gastrointestinal adenomas may present as solitary or multifocal lesions. In the liver, it arises from the hepatocytes. Grossly, it appears as a soft, round mass. Morphologically, the neoplastic cells resemble normal hepatocytes.|NCI|N|
C0948102|A benign adenoma that arises from the salivary gland. This group includes pleomorphic adenoma, canalicular adenoma, basal cell adenoma, and sebaceous adenoma.|NCI|N|
C0948106|Breaking or tearing of the amniotic membranes during childbirth leading to the leakage of amniotic fluid and the progression of labor.|NCI|N|
C0948112|A cystic lesion in the chest wall.|NCI|N|
C0948118|A non-metastasizing oral neoplasm arising from fibrous tissue characterized by the presence of spindle-shaped fibroblasts.|MONDO|N|
C0948119|Excessive proliferation of fibroblasts and deposition of extracellular matrix within the ovary.|HPO|N|
C0948149|An infectious process affecting the spleen. Predisposing factors include immunosuppression, diabetes mellitus, and sickle cell anemia. Infectious agents include bacteria (e.g., staphylococcus and streptococcus) and fungi.|NCI|N|
C0948160|An infectious process affecting the pancreas.|NCI|N|
C0948163|An abnormality of the cerebral white matter.|HPO|N|
C0948187|Congenital tracheomalacia is a rare condition where the trachea is soft and flexible causing the tracheal wall to collapse when exhaling, coughing or crying, that usually presents in infancy, and that is characterized by stridor and noisy breathing or upper respiratory infections. Tracheomalacia improves by the age of 18-24 months.|ORDO|N|
C0948201|An immune response to foreign (donor) antigens.|NCI|N|
C0948216|An adenocarcinoma that arises from the ovary. It is the most common type of ovarian carcinoma. It includes the serous adenocarcinoma, mucinous adenocarcinoma, clear cell adenocarcinoma, and endometrioid adenocarcinoma.|NCI|N|
C0948227|An abnormal communication between the renal pelvis and another anatomic site.|NCI|N|
C0948242|Fetal cystic hygromas are congenital malformations of the lymphatic system appearing as single or multiloculated fluid-filled cavities, most often in the neck. They are thought to arise from failure of the lymphatic system to communicate with the venous system in the neck. They often progress to hydrops and cause fetal death (Chervenak et al., 1983).|OMIM|N|
C0948245|A syndrome that occurs after therapeutic infusion of antibodies into the blood and is characterized by nausea, headache, tachycardia, hypotension, rash, and shortness of breath. It is caused by the release of cytokines from the cells that are targeted by the antibodies. Most patients experience a mild to moderate reaction; however, the reaction may be severe and life-threatening.|NCI|N|
C0948268|A state of hypoperfusion that does not support normal organ perfusion or function. It can include periods of reduced, unstable, or abnormal blood pressure with near syncope, or episodes of syncope.|NCI|N|
C0948284|Endothelial decompensation that is manifested by opacity of the cornea. The condition often occurs as a nonspecific response to mechanical injury from incidental corneal contact by intraocular instruments during surgery; chemical injury from the improper use of intraocular drugs, drugs containing preservatives, or from residues from inadequate rinsing of detergents or other residues from surgical instruments. The most common causes of corneal endothelial decompensation in the adult population are cataract removal/IOL-related endothelial loss and Fuchs dystrophy. When severe, corneal endothelial decompensation requires corneal transplantation.|NCI|N|
C0948292|Displacement of the intraocular lens from the visual axis.|NCI|N|
C0948309|Pseudohyperkalemia describes a falsely elevated potassium level upon measurement of the serum electrolyte concentration due to disruption of cells during the collection or processing of the sample.|HPO|N|
C0948343|A rare but serious transfusion-related reaction in which fluid builds up in the lungs unrelated to excessively high infusion rate and/or volume (TRANSFUSION-ASSOCIATED CIRCULATORY OVERLOAD). Signs of Transfusion-Related Acute Lung Injury include pulmonary secretions; hypotension; fever; DYSPNEA; TACHYPNEA; TACHYCARDIA; and CYANOSIS.|MSH|N|
C0948348|Non-infectious pyrexia secondary to malignancy; it may be attributable to cytokines elaborated by neoplasms, and is a diagnosis of exclusion.|NCI|N|
C0948355|A congenital variant of a coronary artery in which a portion of an epicardial coronary artery (most frequently the middle segment of the left anterior descending artery) takes an intramuscular course.|HPO|N|
C0948357|A bacterial, viral, or fungal infectious process affecting the urethra.|NCI|N|
C0948368|McKusick-Kaufman syndrome (MKS) is characterized by the combination of postaxial polydactyly (PAP), congenital heart disease (CHD), and hydrometrocolpos (HMC) in females and genital malformations in males (most commonly hypospadias, cryptorchidism, and chordee). HMC in infants usually presents as a large cystic abdominal mass arising out of the pelvis, caused by dilatation of the vagina and uterus as a result of the accumulation of cervical secretions from maternal estrogen stimulation. HMC can be caused by failure of the distal third of the vagina to develop (vaginal agenesis), a transverse vaginal membrane, or an imperforate hymen. PAP is the presence of additional digits on the ulnar side of the hand and the fibular side of the foot. A variety of congenital heart defects have been reported including atrioventricular canal, atrial septal defect, ventricular septal defect, or a complex congenital heart malformation.|GeneReviews|N|
C0948387|A form of adrenal insufficiency related to a lack of ACTH, which leads to a decrease in the production of cortisol by the adrenal glands. Aldosterone production is not usually affected.|HPO|N|
C0948441|Blockage of venous return (flow of blood from the periphery back towards the right atrium) in a vein.|HPO|N|
C0948480|Recurrent narrowing or constriction of a coronary artery following surgical procedures performed to alleviate a prior obstruction.|MONDO|N|
C0948522|A non-neoplastic disorder that is caused by pathologic changes in the ocular vasculature.|NCI|N|
C0948585|An increased concentration of 4-hydroxy-L-proline in the urine.|HPO|N|
C0948587|A malignant neoplasm that affects the area of the nipple in males.|NCI|N|
C0948627|A primary or metastatic malignant tumor involving the lymph node. Lymphomas and metastatic carcinomas are representative examples.|NCI|N|
C0948638|Gastritis resulting from fungi.|NCI|N|
C0948643|An abnormally high level of uric acid in the urine.|HPO|N|
C0948672|A condition that is characterized by venous dilation, which presents as soft, compressible lesions.|NCI|N|
C0948688|The multiple, potentially reversible changes in body systems brought about by physical inactivity and disuse.|SNOMEDCT_US|N|
C0948707|Lifting or separation of the periosteum from the outer surface of a bone. Periosteal elevation is usually seen in benign process, frequently in cranioencephalic traumas. There is an elevation of the periosteum after blood, like in cephalohematomas.|HPO|N|
C0948715|A reaction to the infusion of pharmacological or biological substances. Symptoms may appear within minutes to hours following the infusion and may include pruritus, flushing, swelling, dyspnea, bronchospasm, and hypotension.|NCI|N|
C0948740|Incomplete development of the pituitary gland.|NCI|N|
C0948749|A rare carcinoma that arises from the retroperitoneal space.|NCI|N|
C0948750|A carcinoma that arises from the major or minor salivary glands. Representative examples include carcinoma ex pleomorphic adenoma, adenocarcinoma, adenoid cystic carcinoma, and mucoepidermoid carcinoma.|NCI|N|
C0948752|A bacterial infection induced by Enterococcus faecalis which is the most prevalent species (along with Enterococcus faecium) cultured from humans, accounting for more than 90% of clinical isolates. Enterococci are part of the normal intestinal flora of humans and animals. They have been long recognized as important human pathogens.|MONDO|N|
C0948780|Inflammation of the mucous membranes lining the nose and paranasal sinuses.|NCI|N|
C0948786|Transient pallor of the skin caused by reduced blood flow to the affected region.|NCI|N|
C0948812|Leakage of blood into the dialysate during hemodialysis due to apparatus malfunction.|NCI|N|
C0948840|Infiltration of the meninges by an acute or chronic leukemia.|NCI|N|
C0948896|Reduced function of the gonads (testes in males or ovaries in females) associated with excess pituitary gonadotropin secretion and resulting in delayed sexual development and growth delay.|HPO|N|
C0948966|A malignant neoplasm that affects the area of the nipple in females.|NCI|N|
C0948967|A benign or malignant epithelial neoplasm that arises anywhere in the ductal system of the breast. This category includes intraductal papilloma, intraductal papillary carcinoma, ductal hyperplasia with or without atypia, and ductal carcinoma in situ.|NCI|N|
C0948976|Cutaneous involvement by an acute or chronic leukemia.|NCI|N|
C0948981|A subtype of delusional disorder characterized by the central delusional theme that the individual is being malevolently treated (for example, maligned, harassed, conspired against, poisoned or drugged) by another person or group.|NCI|N|
C0949022|A primary or metastatic malignant neoplasm that affects the rectum. Representative examples include carcinoma, lymphoma, and sarcoma.|NCI|N|
C0949047|A coagulation disorder characterized by the partial or complete absence of tissue factor (factor III) activity in the blood.|NCI|N|
C0949059|Multiple abnormal growths that arise from the lining of the large intestine (colon or rectum) and protrude into the intestinal lumen.|HPO|N|
C0949072|Thrombus formation within an apparatus that carries blood outside of the body, such as pheresis, dialysis or extracorporeal membrane oxygenation (ECMO).|NCI|N|
C0949083|Pneumonia acquired during a hospital stay.|NCI|N|
C0949092|A sensation of discomfort secondary to sampling of tissue or bodily fluid.|NCI|N|
C0949116|An inborn condition characterized by deficiencies of red cell precursors that sometimes also includes LEUKOPENIA and THROMBOCYTOPENIA.|MSH|N|
C0949173|First period after the age of 15 years.|HPO|N|
C0949177|A chalky white area that appears on a tooth surface indicating the presence of decalcified enamel and the potential to advance to cavitation.|NCI|N|
C0949272|Ileocolitis or ileal Crohn's is the most common type of Crohn's disease. It affects both the ileum (small intestine) and the colon.|MONDO|N|
C0949331|A congenital disorder characterized by the complete absence of gonadal tissue.|NCI|N|
C0949469|A multicellular process that regulates the number of transmembrane receptors, by means of increased internalization or decreased expression of the transmembrane receptor. This process is involved in dampening the response to extracellular signals.|NCI|N|
C0949479|A positive regulatory process that increases ligand-receptor interactions. Increase in receptor binding after ligand exposure can result from receptor activation, aggregation, increase in half-life, and/or an increase in gene expression that leads to de novo receptor synthesis.|MSH|N|
C0949506|Porokeratosis is a rare skin disorder characterized by one or more annular plaques with a surrounding raised horny border that spreads centrifugally. Variants of porokeratosis have been described that differ in morphologic shapes, distribution, and clinical course (Schamroth et al., 1997). However, as noted by Sybert (2010), several families with expression of more than one variant of porokeratosis among members, and several individuals expressing more than one variant, have been reported, suggesting that the distinctions among these variants may be artificial.
Mutations in the MVK gene have been found to cause multiple types of porokeratosis, which have been described as porokeratosis of Mibelli, porokeratoma, genital porokeratosis, hyperkeratotic porokeratosis, and linear porokeratosis.
The preferred title of this entry was formerly 'Porokeratosis 1, Mibelli Type; POROK1.'
Genetic Heterogeneity of Porokeratosis
Also see porokeratosis-2 (POROK2; 175850), mapped to chromosome 12q24; POROK3 (175900), caused by mutation in the MVK gene (251170) on chromosome 12q24; POROK4 (607728), mapped to chromosome 15q25-q26; POROK5 (612293), mapped to chromosome 1p31; POROK6 (612353), mapped to chromosome 1p31; POROK7 (614714), caused by mutation in the MVD gene (603236) on chromosome 16q24; POROK8 (616063), caused by mutation in the SLC17A9 gene (612107) on chromosome 20q13; and POROK9 (616631), caused by mutation in the FDPS gene (134629) on chromosome 1q22.
A palmoplantar form of punctate porokeratosis has also been described (PPKP2; 175860).
Genotype/Phenotype Correlations
Zhang et al. (2015) screened 12 isoprenoid genes in 134 Chinese probands with porokeratosis and identified mutations in the MVK, MVD, PMVK, and FDPS genes in 113 patients. The authors noted that giant plaque-type porokeratosis ptychotropica with lesion diameters of at least 5 cm appeared to be uniquely associated with mutation in MVK; it was observed in 19 (50%) of 38 MVK probands, but not in patients with mutations in any of the other 3 genes or in the 21 probands in whom no mutation was found. MVK patients also showed the widest range in terms of the number and size of lesions, as well as presence of porokeratosis subtypes. In patients with MVD mutations, the age of onset ranged from 5 to 70 years, and lesion diameters were generally less than 2 cm. In addition, 6 of the 62 MVD probands exhibited solar facial porokeratosis, which was not seen in any other patients. Localized genital porokeratosis and porokeratoma appeared to be uniquely associated with mutation in the PMVK gene, whereas patients with mutations in the FDPS gene had more than 500 lesions, all with diameters of 1 cm or less.|OMIM|N|
C0949541|An adenoma or carcinoma arising from the follicular cells of the thyroid gland. It is composed of large oncocytic cells with abundant granular eosinophilic cytoplasm.|NCI|N|
C0949570|Allergic reaction to wheat that is triggered by the immune system.|MSH|N|
C0949595|Hypergonadotropic ovarian failure is a heterogeneous disorder that, in the most severe forms, is a result of ovarian dysgenesis. Ovarian dysgenesis accounts for about half the cases of primary amenorrhea (Timmreck and Reindollar, 2003).
Genetic Heterogeneity of Ovarian Dysgenesis
Even in its isolated form, 46,XX ovarian dysgenesis is etiologically heterogeneous. See ODG2 (300510), caused by mutation in the BMP15 gene (300247); ODG3 (614324), caused by mutation in the PSMC3IP gene (608665); ODG4 (616185), caused by mutation in the MCMDC1 gene (610098); ODG5 (617690), caused by mutation in the SOHLH1 gene (610224); ODG6 (618078), caused by mutation in the NUP107 gene (607617); ODG7 (618117), caused by mutation in the MRPS22 gene (605810); ODG8 (618187), caused by mutation in the ESR2 gene (601663); ODG9 (619665), caused by mutation in the SPIDR gene (615384); and ODG10 (619834), caused by mutation in the ZSWIM7 gene (614535).
See also ovarian dysgenesis with sensorineural deafness, or Perrault syndrome (233400).|OMIM|N|
C0949628|Inheritance of both homologues of a chromosome pair from the same parent.|HPO|N|
C0949658|Hereditary ventricular hypertrophy (CMH, HCM, ASH, or IHSS) in early stages produces a presystolic gallop due to an atrial heart sound, and EKG changes of ventricular hypertrophy. Progressive ventricular outflow obstruction may cause palpitation associated with arrhythmia, congestive heart failure, and sudden death. Seidman (2000) reviewed studies of hypertrophic cardiomyopathy in man and mouse.
Reviews
Walsh et al. (2022) reviewed hypertrophic cardiomyopathy phenotypes associated with variation in genes encoding nonsarcomeric proteins. The authors suggested that these genes likely contribute to polygenic risk scores derived from genomewide association studies that could be used to improve risk assessment in patients and family members, and noted that the diverse functions of the proteins highlight novel disease pathways and therapeutic targets for cardiomyopathies.
Genetic Heterogeneity of Hypertrophic Cardiomyopathy
Additional forms of hypertrophic cardiomyopathy include CMH2 (115195), caused by mutation in the TNNT2 gene (191045) on chromosome 1q32; CMH3 (115196), caused by mutation in the TPM1 gene (191010) on chromosome 15q22; CMH4 (115197), caused by mutation in the MYBPC3 gene (600958) on chromosome 11p11; CMH6 (600858), caused by mutation in the PRKAG2 gene (602743) on chromosome 7q36; CMH7 (613690), caused by mutation in the TNNI3 gene (191044) on chromosome 19q13; CMH8 (608751), caused by mutation in the MYL3 gene (160790) on chromosome 3p21; CMH9 (613765), caused by mutation in the TTN gene (188840) on chromosome 2q31; CMH10 (608758), caused by mutation in the MYL2 gene (160781) on chromosome 12q24; CMH11 (612098), caused by mutation in the ACTC1 gene (102540) on chromosome 15q14; CMH12 (612124), caused by mutation in the CSRP3 gene (600824) on chromosome 11p15; CMH13 (613243), caused by mutation in the TNNC1 gene (191040) on chromosome 3p21; CMH14 (613251), caused by mutation in the MYH6 gene (160710) on chromosome 14q12; CMH15 (613255), caused by mutation in the VCL gene (193065) on chromosome 10q22; CMH16 (613838), caused by mutation in the MYOZ2 gene (605602) on chromosome 4q26; CMH17 (613873), caused by mutation in the JPH2 gene (605267) on chromosome 20q12; CMH18 (613874), caused by mutation in the PLN gene (172405) on chromosome 6q22; CMH20 (613876), caused by mutation in the NEXN gene (613121) on chromosome 1p31; CMH21 (614676), mapped to chromosome 7p12.1-q21; CMH22 (see 615248), caused by mutation in the MYPN gene (608517) on chromosome 10q21; CMH23 (see 612158), caused by mutation in the ACTN2 gene (102573) on chromosome 1q43; CMH24 (see 601493), caused by mutation in the LDB3 gene (605906) on chromosome 10q23; CMH25 (607487), caused by mutation in the TCAP gene (604488) on chromosome 17q12; CMH26 (617047), caused by mutation in the FLNC gene (102565) on chromosome 7q32; CMH27 (618052), caused by mutation in the ALPK3 gene (617608) on chromosome 15q25; CMH28 (619402), caused by mutation in the FHOD3 gene (609691) on chromosome 18q12; and CMH29 (620236), caused by mutation in the KLHL24 gene (611295) on chromosome 3q27.
The CMH5 designation was initially assigned to a CMH family showing genetic heterogeneity. Subsequently, affected individuals were found to carry mutations in the MYH7 (CMH1) and/or MYBPC3 (CMH4) genes.
Mutations in the CALR3 gene (611414), previously suggested to cause a form of CMH (Chiu et al., 2007) designated CMH19, were convincingly shown not to be a monogenic cause of cardiomyopathy by Verhagen et al. (2018); see 611414.0001.
Hypertrophic cardiomyopathy has also been associated with mutation in the gene encoding cardiac myosin light-peptide kinase (MYLK2; see 606566.0001), which resides on chromosome 20q13.3; the gene encoding caveolin-3 (CAV3; see 601253.0013), which maps to chromosome 3p25; and with mutations in genes encoding mitochondrial tRNAs: see mitochondrial tRNA-glycine (MTTG; 590035) and mitochondrial tRNA-isoleucine (MTTI; 590045).|OMIM|N|
C0949664|Neurodegenerative disorders involving deposition of abnormal tau protein isoforms (tau proteins) in neurons and glial cells in the brain. Pathological aggregations of tau proteins are associated with mutation of the tau gene on chromosome 17 in patients with alzheimer disease; dementia; parkinsonian disorders; progressive supranuclear palsy (supranuclear palsy, progressive); and corticobasal degeneration.|MONDO|N|
C0949683|Clinical conditions caused by an abnormal sex chromosome constitution (SEX CHROMOSOME ABERRATIONS), in which there is extra or missing sex chromosome material (either a whole chromosome or a chromosome segment).|MSH|N|
C0949690|A group of disorders including ankylosing spondylitis, axial spondylarthritis, spondyloarthritis due to inflammatory bowel disease, and other conditions. They share the common features of inflammation of axial joints, asymmetric oligoarthritis, dactylitis, and enthesitis.|SNOMEDCT_US|N|
C0949691|A group of inflammatory rheumatic diseases associated with arthritis and enthesitis, and often involving the axial skeleton. The most common form of spondyloarthritis is ankylosing spondylitis. Other forms include axial spondyloarthritis, peripheral spondyloarthritis, reactive arthritis, psoriatic arthritis/spondylitis and enteropathic arthritis/spondylitis.|MONDO|N|
C0949765|The enzymatic addition of a sequence of adenylyl residues at the 3'' end of an RNA molecule.|NCI|N|
C0949804|Infections with polyomavirus, which are often cultured from the urine of kidney transplant patients. Excretion of bk virus is associated with ureteral strictures and cystitis, and that of jc virus with progressive multifocal leukoencephalopathy (leukoencephalopathy, progressive multifocal).|MONDO|N|
C0949885|A highly fatal contagious disease of goats and sheep caused by PESTE-DES-PETITS-RUMINANTS VIRUS. The disease may be acute or subacute and is characterized by stomatitis, conjunctivitis, diarrhea, and pneumonia.|MSH|N|
C0950112|Clinically severe acute disease of cattle caused by noncytopathic forms of Bovine viral diarrhea virus 2 (DIARRHEA VIRUS 2, BOVINE VIRAL). Outbreaks are characterized by high morbidity and high mortality.|MSH|N|
C0950121|WT1 disorder is characterized by congenital/infantile or childhood onset of steroid-resistant nephrotic syndrome (SRNS), a progressive glomerulopathy that does not respond to standard steroid therapy. Additional common findings can include disorders of testicular development (with or without abnormalities of the external genitalia and/or müllerian structures) and Wilms tumor. Less common findings are congenital anomalies of the kidney and urinary tract (CAKUT) and gonadoblastoma. While various combinations of renal and other findings associated with a WT1 pathogenic variant were designated as certain syndromes in the past, those designations are now recognized to be part of a phenotypic continuum and are no longer clinically helpful.|GeneReviews|N|
C0950122|WT1 disorder is characterized by congenital/infantile or childhood onset of steroid-resistant nephrotic syndrome (SRNS), a progressive glomerulopathy that does not respond to standard steroid therapy. Additional common findings can include disorders of testicular development (with or without abnormalities of the external genitalia and/or müllerian structures) and Wilms tumor. Less common findings are congenital anomalies of the kidney and urinary tract (CAKUT) and gonadoblastoma. While various combinations of renal and other findings associated with a WT1 pathogenic variant were designated as certain syndromes in the past, those designations are now recognized to be part of a phenotypic continuum and are no longer clinically helpful.|GeneReviews|N|
C0950123|Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent''s genome or they may be acquired in utero.|MSH|N|
C0950124|Neoplasms of the skin and mucous membranes caused by papillomaviruses. They are usually benign but some have a high risk for malignant progression.|MSH|N|
C0969675|A type of uniparental disomy in which the two different chromosomes (or chromosome segments) of the same parent are transmitted.|HPO|N|
C0969676|A type of uniparental disomy in which the two identical chromosomes (or chromosome segments) of the same parent are transmitted.|HPO|N|
C0969700|The similarity between chromosome segments or chromosomes in the linear arrangement of genes (GENE ORDER) or genetic markers.|MSH|N|
C0969753|Infections with viruses of the order nidovirales. The concept includes arterivirus infections and coronaviridae infections.|MONDO|N|
C0973461|Impairment of verbal communication skills, often resulting from brain damage.|NCI|N|
C0994344|Rheumatoid lung disease is a group of lung problems related to rheumatoid arthritis.|MONDO|N|
C0994516|Duane syndrome is a strabismus condition clinically characterized by congenital non-progressive limited horizontal eye movement accompanied by globe retraction which results in narrowing of the palpebral fissure. The lateral movement anomaly results from failure of the abducens nucleus and nerve (cranial nerve VI) to fully innervate the lateral rectus muscle; globe retraction occurs as a result of abnormal innervation of the lateral rectus muscle by the oculomotor nerve (cranial nerve III). At birth, affected infants have restricted ability to move the affected eye(s) outward (abduction) and/or inward (adduction), though the limitations may not be recognized in early infancy. In addition, the globe retracts into the orbit with attempted adduction, accompanied by narrowing of the palpebral fissure. Many individuals with Duane syndrome have strabismus in primary gaze but can use a compensatory head turn to align the eyes, and thus can preserve binocular vision and avoid diplopia. Individuals with Duane syndrome who lack binocular vision are at risk for amblyopia. The majority of affected individuals with Duane syndrome have isolated Duane syndrome (i.e., they do not have other detected congenital anomalies). Other individuals with Duane syndrome fall into well-defined syndromic diagnoses. However, many individuals with Duane syndrome have non-ocular findings that do not fit a known syndrome; these individuals are included as part of the discussion of nonsyndromic Duane syndrome.|GeneReviews|N|
C0994638|The presence of pancreatic tissue outside the normal pancreas, in many cases along the foregut and proximal midgut.|HPO|N|
C1095924|Membranous areas between cranial bones in a newborn that appear depressed or sunken.|NCI|N|
C1095982|Increased period of time required for the concentration or amount of drug in the body to be reduced to exactly one-half of a given concentration or amount.|NCI|N|
C1096063|Epilepsy that is refractory to treatment.|NCI|N|
C1096086|An abnormality of the leg.|HPO|N|
C1096099|Transmission of light through the iris as visualized upon slit lamp examination or infrared iris transillumination videography. The light passes through defects in the pigmentation of the iris.|HPO|N|
C1096100|Iridocorneal endothelial (ICE) syndrome describes a group of progressive corneal proliferative endotheliopathies comprised of Chandler?s syndrome, Cogan-Reese syndrome and essential iris atrophy (see these terms), affecting mainly young adult females and characterized by iris holes and atrophy, papillary distortion, anterior synechiae, corneal edema and often with secondary glaucoma and corneal decompensation as complications|ORDO|N|
C1096116|Acquired hemophilia is a bleeding disorder that interferes with the body's blood clotting process. Signs and symptoms include prolonged bleeding, frequent nosebleeds, bruising throughout the body, solid swellings of congealed blood (hematomas), hematuria, and gastrointestinal or urologic bleeding. Acquired hemophilia occurs when the body's immune system attacks and disables a certain protein that helps the blood clot. About half of the cases are associated with other conditions, such as pregnancy, autoimmune disease, cancer, skin diseases, or allergic reactions to medications.|MONDO|N|
C1096155|A rare hemophagocytic syndrome characterized by excessive activation and proliferation of macrophages and T cells occurring in the context of a variety of diseases, including infections, neoplasms, rheumatic disorders, and leading to sudden onset of persistent fever, lymphadenopathy, and hepatosplenomegaly. Complications include profound depression of one or more blood cell lines with coagulopathy and pancytopenia, and impaired liver and renal function. Bone marrow examination reveals numerous well differentiated macrophages actively phagocytosing hematopoietic elements.|ORDO|N|
C1096168|A rare chromosomal anomaly syndrome with a highly variable clinical presentation. The disorder has characteristics of growth delay, intellectual disability, body asymmetry with leg length differentiation, scoliosis, and congenital heart anomalies (ventricular septal defect). Prenatal ultrasound findings include intrauterine growth retardation, nuchal thickening brain anomalies (cerebellar hypoplasia), pleural effusion and single umbilical artery. Patients with no associated malformations have also been reported.|SNOMEDCT_US|N|
C1096176|Mitochondrial Damage involves any process that leads to dysfunction of mitochondria, whether by oxidative damage, mutation of mitochondrial DNA or other by means.|NCI|N|
C1096243|An infectious process related to a central venous catheter.|NCI|N|
C1096249|Calcification, that is, pathological deposition of calcium salts in the aorta.|HPO|N|
C1096274|A decreased anteroposterior thickness of the cornea.|HPO|N|
C1096283|A disease caused by infection with Bifidobacterium.|MONDO|N|
C1096298|Placental mesenchymal dysplasia is a rare anomaly characterized by placentomegaly, dilatation of chorionic vessels and hydropic stem villi with cistern-like formation. It is often clinically mistaken for a partial hydatidiform mole but there is no trophoblastic proliferation. P57 immunohistochemical expression is discordant, showing a normal positive expression in the cytotrophoblastic cells, and loss of expression in the stromal cells.|HPO|N|
C1096309|A benign extrauterine tumor composed of mature adipocytes and smooth muscle cells.|NCI|N|
C1096346|A rare malignant soft tissue neoplasm that occurs primarily in the pancreas.|NCI|N|
C1096347|A sarcoma that arises from the stomach. Representative examples include Kaposi sarcoma, leiomyosarcoma, and liposarcoma.|NCI|N|
C1096349|A rare neurofibroma that affects the heart.|NCI|N|
C1096367|Average platelet volume above the upper limit of the normal reference interval.|HPO|N|
C1096368|Average platelet volume below the lower limit of the normal reference interval.|HPO|N|
C1096452|An infectious disorder of newborn infants that is characterized by a systemic inflammatory response within 72 hours of life and is most commonly caused by bacteria.|NCI|N|
C1096527|Mosaic trisomy 8 is a chromosomal disorder defined by the presence of three copies of chromosome 8 in some cells of the organism. The disorder has manifestations of facial dysmorphism, mild intellectual deficit and joint, urinary, cardiac and skeletal anomalies. Most patients present a moderate intellectual deficit with some patients having a normal intelligence. Mosaic trisomy 8 is the result of a post-zygotic event.|SNOMEDCT_US|N|
C1096546|A congenital condition described by the presence of symmetric or asymmetric angular deformity and shortening of the long bones, particularly the femurs, tibiae and ulnae. Prevalence is unknown. It manifests at radiography as posteromedial bowing with cortical thickening along the concavity of the curvature and, in some cases, diaphyseal broadening. Bowing of the long bones can be detected on antenatal ultrasound screening, but it is a nonspecific sign that can be associated with a variety of conditions, whose recognition is important for differentiating those that will resolve spontaneously from those that require surgery or other treatment.|SNOMEDCT_US|N|
C1096561|Calcium deposition in the myocardium.|HPO|N|
C1096562|A disease caused by infection with Peptostreptococcus.|MONDO|N|
C1096582|An infection that is caused by Campylobacter jejuni.|NCI|N|
C1096638|An adenocarcinoma that arises from the ovary and is characterized by the presence of cystic structures. It includes the serous cystadenocarcinoma, mucinous cystadenocarcinoma, and clear cell cystadenocarcinoma.|NCI|N|
C1096639|An adenocarcinoma arising from the appendix, characterized by the presence of mucinous stroma formation and cystic structures.|NCI|N|
C1096654|A fibroma of the heart.|HPO|N|
C1096656|A granuloma located in the myocardium.|NCI|N|
C1096691|An infection caused by the BK virus. It usually causes an asymptomatic infection, except in immunocompromised individuals where it may cause nephropathy or hemorrhagic cystitis.|NCI|N|
C1096710|Serum sample with a grossly white (milk-like, i.e., lactescent) appearance. This feature is indicative of an extremely elevated serum triglyceride level.|HPO|N|
C1096715|A malignant germ cell tumor that arises from the testis and has spread to another anatomic site.|NCI|N|
C1096721|An infectious disorder of newborn infants that is characterized by a systemic inflammatory response beyond 72 hours of life and is most commonly caused by bacteria.|NCI|N|
C1096734|Allergic disposition to the substance derived from the mold rather than the intact mold organism itself.|SNOMEDCT_US|N|
C1096902|Free sialic acid storage disorders (FSASDs) are a spectrum of neurodegenerative disorders resulting from increased lysosomal storage of free sialic acid. Historically, FSASD was divided into separate allelic disorders: Salla disease, intermediate severe Salla disease, and infantile free sialic acid storage disease (ISSD). The mildest type was Salla disease, characterized by normal appearance and absence of neurologic findings at birth, followed by slowly progressive neurologic deterioration resulting in mild-to-moderate psychomotor delays, spasticity, athetosis, and epileptic seizures. Salla disease was named for a municipality in Finnish Lapland where a specific founder variant is relatively prevalent. However, the term Salla has been used in the literature to refer to less severe FSASD. More severe FSASD is historically referred to as ISSD, and is characterized by severe developmental delay, coarse facial features, hepatosplenomegaly, and cardiomegaly; death usually occurs in early childhood.|GeneReviews|N|
C1096903|Free sialic acid storage disorders (FSASDs) are a spectrum of neurodegenerative disorders resulting from increased lysosomal storage of free sialic acid. Historically, FSASD was divided into separate allelic disorders: Salla disease, intermediate severe Salla disease, and infantile free sialic acid storage disease (ISSD). The mildest type was Salla disease, characterized by normal appearance and absence of neurologic findings at birth, followed by slowly progressive neurologic deterioration resulting in mild-to-moderate psychomotor delays, spasticity, athetosis, and epileptic seizures. Salla disease was named for a municipality in Finnish Lapland where a specific founder variant is relatively prevalent. However, the term Salla has been used in the literature to refer to less severe FSASD. More severe FSASD is historically referred to as ISSD, and is characterized by severe developmental delay, coarse facial features, hepatosplenomegaly, and cardiomegaly; death usually occurs in early childhood.|GeneReviews|N|
C1112161|Erythema (Redness of the skin caused by hyperemia of the capillaries in the lower layers of the skin) localized to the region surrounding the anus.|HPO|N|
C1112166|A benign or malignant neoplasm that arises in the area of the nipple.|NCI|N|
C1112209|Infection in the abdominal cavity resulting from injury, acute intestinal inflammation (e.g., acute appendicitis), intestinal perforation, or complication of abdominal surgery.|NCI|N|
C1112211|An acute or chronic infectious process affecting the liver.|NCI|N|
C1112243|Infection at the site of needle puncture or intravenous catheter placement due to poor aseptic techniques. It is characterized by erythema, pain, swelling, and induration at the catheter insertion site.|NCI|N|
C1112251|Any problem with a feeding tube or its site of insertion.|NCI|N|
C1112258|An overwhelming, irrational, and persistent fear of operating a motor vehicle.|NCI|N|
C1112276|Any disorder occurring postoperatively as a consequence of a thoracic procedure.|NCI|N|
C1112278|Body height below the normal range.|NCI|N|
C1112382|A carcinoma of the larynx that arises from the epiglottis.|NCI|N|
C1112387|A teratoma within the heart. Most commonly, these tumors are detected in the pericardial cavity attached to the pulmonary artery and aorta. The tumor size within the heart varies from 2 to 9 cm in diameter, and intrapericardial tumors as large as 15 cm have been reported. Intracardiac tumors arise from the atrial or ventricular wall as nodular masses protruding into the cardiac chambers. Cardiac and pericardial teratomas are easily detected in the fetus and neonate by two-dimensional echocardiography as heterogeneous and encapsulated cystic masses. Histologically, cardiac teratomas contain multiple immature elements including epithelium, neuroglial tissue, thyroid, pancreas, smooth and skeletal muscle, cartilage and bone.|HPO|N|
C1112395|The lymph nodes are felt on palpation.|NCI|N|
C1112433|A cerebrovascular accident (stroke) that occurs because of thromboembolism.|HPO|N|
C1112436|Any deviation from the normal direction of the ventricular axis. The left ventricle makes up most of the heart muscle under normal circumstances and therefore generates the most electrical force visible on the EKG. The normal ventricular axis is directed downward and slightly towards the left. The ventricular axis can be determined by analyzing the QRS complex, which represents ventricular depolarization.|HPO|N|
C1112437|A small round cell tumor with neural differentiation arising from the soft tissues.|NCI|N|
C1112442|A problem occurring during any phase of the female sexual response cycle that prevents the individual from experiencing satisfaction from the sexual activity|HPO|N|
C1112443|A problem occurring during any phase of the male sexual response cycle that prevents the individual from experiencing satisfaction from the sexual activity|HPO|N|
C1112459|A hepatocellular carcinoma that is not amenable to surgical resection.|NCI|N|
C1112466|Migraine associated with an ischemic brain lesion.|NCI|N|
C1112467|Des-gamma carboxyprothrombin (DCP) or pro-thrombin induced by vitamin K absence-II (PIVKA-II) is an abnormal prothrombin protein that is increased in the serum of patients with HCC. Generation of DCP is thought to be a result of an acquired defect in the post- translational carboxylation of the prothrombin precursor in malignant cells.|HPO|N|
C1112474|An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the esophagus. It is characterized by the presence of malignant small cells.|NCI|N|
C1112480|Bleeding originating from the mediastinum.|NCI|N|
C1112486|A severe and rare form of systemic mastocytosis with manifestation of considerable infiltration of mast cells in different tissues. It represents less than 10% of cases of systemic mastocytosis. This disease doesn''t usually develop in children. Cutaneous involvement is normally absent. Patients present with severe symptoms related to mast cell invasion and the intense release of mediators including syncope, recurrent flushing, organomegaly and organ dysfunction. The most serious complication is potentially fatal anaphylactic shock.There is evidence of an activating mutation of KIT, usually D816V, in the mast cells of the vast majority of patients. The prognosis is poor with a median survival of 2 to 4 years.|SNOMEDCT_US|N|
C1112498|An abscess that is located in the parathyroid gland(s).|NCI|N|
C1112501|A serrated polypoid lesion that arises in the colon and rectum. It is usually found in the distant colon and it rarely produces symptoms. This group includes goblet cell rich, mucin poor, and microvesicular hyperplastic polyps.|NCI|N|
C1112503|A usually polypoid neoplasm that arises from the glandular epithelium of the colonic mucosa. It is characterized by a tubular architectural pattern. The neoplastic glandular cells have dysplastic features.|NCI|N|
C1112516|An inflammatory process affecting the salivary duct.|NCI|N|
C1112517|An abscess resulting from infection by Mycobacterium tuberculosis.|NCI|N|
C1112565|The presence of gas within the wall of the large or small intestine.|NCI|N|
C1112570|A rare form of autoimmune bullous skin disease characterized by polyformative skin lesions, typically beginning on the oral mucus membranes, and generally associated with lymphoma or chronic lymphoid leukemia.|ORDO|N|
C1112573|Sexual dysfunction characterized by a delay in climax.|NCI|N|
C1112577|Gastritis that is associated with the presence of granulomas.|NCI|N|
C1112650|Elevation of the voltage (height) of the QRS complex. There are several criteria in use, but the most common is the Sokolov-Lyon criterion (S wave depth in V1 + tallest R wave height in V5-V6 greater than 35 mm).|HPO|N|
C1112662|An electrocardiographic finding of an injury in leads corresponding to the anatomic region of the posterolateral wall of the heart.|MONDO|N|
C1112705|A type of cataract that forms deep in the central zone (nucleus) of the lens. Nuclear cataracts are usually associated with aging.|NCI|N|
C1112709|Inflammation of the urethra secondary to infection with any bacteria other than Neisseria gonorrhoeae.|NCI|N|
C1112712|A laboratory test result that indicates the presence of abnormal peripheral blood and/or bone marrow values.|NCI|N|
C1112734|An acute or chronic infectious process affecting the stomach.|NCI|N|
C1112746|A rare lymphoma that arises from the liver and the bulk of the tumor is located in the liver. The most frequent types of lymphoma that arise from the liver are diffuse large B-cell lymphoma and mucosa-associated lymphoid tissue lymphoma.|NCI|N|
C1112747|A rare, genetic hemoglobinopathy usually characterized by mild microcytic hemolysis and, very rarely, vaso-occlusive complications. Severe manifestations have been reported, including hematuria, splenic infarction, acute chest syndrome, acute episodes of pain and reversible bone marrow necrosis. The genotype is characterized by an HbS allele in combination with an HbE variant (beta26glu>lys); symptoms are due to the low allelic expression of HbE leading to HbS predominance (65+/-5%).|ORDO|N|
C1112748|A neoplasm that arises from the glandular epithelium of the colonic mucosa. It is characterized by tubular and villous architectural patterns. The neoplastic glandular cells have dysplastic features.|NCI|N|
C1112768|A type of cataract affecting the anterior pole of lens immediately adjacent to ('beneath') the lens capsule.|HPO|N|
C1112776|Hyperplasia of the thyroid gland.|HPO|N|
C1112793|An infectious process originating from an implanted vascular device.|NCI|N|
C1115580|Illnesses that exist and/or were observed in a patient at the time the patient received vaccination.|NCI|N|
C1120386|A semi-synthetic echinocandin derived from a natural product of the fungus Coleophama empedri with potent antifungal activity. Micafungin, like other cyclic lipopeptides, noncompetitively inhibits the fungal specific enzyme 1,3-beta-D-glucan synthase, an enzyme essential for fungal cell wall synthesis. Inhibition of this enzyme weakens of the cell wall, thereby leading to osmotic lysis and eventually, fungal cell death.|NCI|N|
C1134488|A finding indicating a deficiency or excess of one or more hormones.|NCI|N|
C1134515|A benign or malignant neoplasm affecting the spinal cord during childhood.|NCI|N|
C1134517|A small round cell tumor with neural differentiation arising from the kidney.|NCI|N|
C1134719|A term that refers to a large and heterogeneous group of invasive breast carcinomas that cannot be classified morphologically as any of the special histological types. (WHO 2019)|NCI|N|
C1135120|A episode of severe pain that breaks through (i.e., temporarily exacerbates) a period of persistent pain.|HPO|N|
C1135161|Localized primary tumor, as defined for stage 1, 2A, or 2B, with dissemination limited to skin, liver, and/or bone marrow (limited to infants younger than 1 year). Marrow involvement should be minimal (i.e., <10% of total nucleated cells identified as malignant by bone biopsy or by bone marrow aspirate). More extensive bone marrow involvement would be considered stage 4 disease. The results of the MIBG scan, if performed, should be negative for disease in the bone marrow. (cancer.gov)|NCI|N|
C1135188|Acute muscle weakness and paralysis that develops in critically ill patients who have been treated with multiple drugs during their intensive care unit stay. It is associated with delayed weaning from mechanical ventilation and prolonged rehabilitation.|NCI|N|
C1135191|Heart failure caused by abnormal myocardial contraction during systole leading to defective cardiac emptying.|MONDO|N|
C1135196|Heart failure caused by abnormal myocardial relaxation during diastole leading to defective cardiac filling.|MONDO|N|
C1135342|An acute episode of worsening pulmonary symptoms related to cystic fibrosis.|NCI|N|
C1135345|Acute quadriplegic myopathy (AQM) is a specific acquired myopathy in ICU patients. Patients with AQM are characterized by severe muscle weakness and atrophy of spinal nerve innervated limb and trunk muscles, while cranial nerve innervated craniofacial muscles, sensory and cognitive functions are spared or less affected. The muscle weakness is associated with altered muscle membrane properties and a preferential loss of the motor protein myosin and myosin-associated thick filament proteins. Prolonged mechanical ventilation, muscle unloading, postsynaptic block of neuromuscular transmission, sepsis and systemic corticosteroid hormone treatment have been suggested as important triggering factors in AQM.|MONDO|N|
C1135812|The kneecap normally is located within the groove termed trochlea on the distal femur and can slide up and down in it. Patellar dislocation occurs if the patella fully dislocates out of the groove.|HPO|N|
C1135821|An acute, transmissible, infectious disease associated with high MORTALITY and MORBIDITY in young turkeys (poults). It is characterized by DIARRHEA; ANOREXIA; growth depression, and immune dysfunction. The cause is unknown but astroviruses (AVASTROVIRUS) and coronaviruses (CORONAVIRUS, TURKEY) have been isolated from diseased poults and are thought to cause the enteritis and increased susceptibility to bacterial infections.|MSH|N|
C1135841|Herpes zoster but without eruption of vesicles. Patients exhibit the characteristic pain minus the skin rash, sometimes making diagnosis difficult.|MONDO|N|
C1135868|Disorder characterised by abnormal proliferation of trophoblasts during pregnancy, of a type which is invasive or metastatic.|SNOMEDCT_US|N|
C1135869|A systemic infection of various salmonid and a few nonsalmonid fishes caused by Viral hemorrhagic septicemia virus (see NOVIRHABDOVIRUS),|MSH|N|
C1135873|A highly malignant choriocarcinoma derived from the non-placental origin such as the totipotent cells in the testis, the ovary, and the pineal gland. It produces high levels of chorionic gonadotropin and can metastasize widely through the bloodstream to the lungs, brain, liver, bone, and other viscera by the time of diagnosis.|MONDO|N|
C1135993|A transmissible spongiform encephalopathy (prion disease) of DEER and elk characterized by chronic weight loss leading to death. It is thought to spread by direct contact between animals or through environmental contamination with the prion protein (PRIONS).|MSH|N|
C1136026|A type of multifactorial inheritance governed by the simultaneous action of a few gene loci. It is recommended this term be used for traits governed by three loci, although it is noted that usage of this term in the literature is not uniform.|HPO|N|
C1136033|Mastocytosis, or mast cell disease, is a heterogeneous group of clinical disorders characterized by the abnormal accumulation of mast cells in various tissues, especially in the skin and hematopoietic organs. Mastocytosis usually appears in infancy or early adulthood. In most pediatric cases, the disease is limited to the skin, but it can be associated with systemic symptoms due to the release of mediators from mast cells, even when there is no systemic infiltration. It usually has a good prognosis, with substantial improvement or spontaneous resolution before puberty. In rare cases, the disease may remain active through adolescence as a systemic adult mastocytosis. Cutaneous mastocytosis is characterized by macules, papules, nodules, or diffuse infiltration of the skin, often associated with localized hyperpigmentation. Gentle rubbing of the lesions induces histamine release from mechanically activated mast cells, causing local wheals, erythema, and often pruritus, a phenomenon termed the 'Darier sign.'  In contrast to childhood-onset mastocytosis, adult-onset mastocytosis often persists for the lifetime of the patient and is also more likely to be a severe and systemic disease involving numerous organs. In some cases, it is associated with a clonal hematologic non-mast-cell lineage disease, such as a myelodysplastic or myeloproliferative disorder. Adult-onset mastocytosis can also lead to the rare mast cell leukemia, which carries a high risk of mortality (summary by Bodemer et al., 2010 and Kambe et al., 2010).|OMIM|N|
C1136042|A bilateral vestibular schwannoma (acoustic neurinoma).|HPO|N|
C1136085|An abnormal laboratory test result indicating the presence of monoclonal immunoglobulins in the blood or urine.|NCI|N|
C1136154|A condition characterized by a broad range of progressive disorders ranging from TENOSYNOVITIS to tendon rupture with or without hindfoot collapse to a fixed, rigid, FLATFOOT deformity. Pathologic changes can involve associated tendons, ligaments, joint structures of the ANKLE, hindfoot, and midfoot. Posterior tibial tendon dysfunction is the most common cause of acquired flatfoot deformity in adults.|MSH|N|
C1136158|The property of the T-CELL RECEPTOR which enables it to react with some antigens and not others. The specificity is derived from the structure of the receptor''s variable region which has the ability to recognize certain antigens in conjunction with the MAJOR HISTOCOMPATIBILITY COMPLEX molecule.|MSH|N|
C1136178|A condition characterized by a series of interrelated digital symptoms and joint changes of the lesser digits and METATARSOPHALANGEAL JOINTS of the FOOT. The syndrome can include some or all of the following conditions: hammer toe, claw toe, mallet toe, overlapping fifth toe, curly toe, EXOSTOSIS; HYPEROSTOSIS; interdigital heloma, or contracted toe.|MSH|N|
C1136179|Hyperextension of the metatarsal-phalangeal joint with hyperflexion of the proximal interphalangeal (PIP) joint.|HPO|N|
C1136182|Antigenic variation as the pathogen passes through an entire host population rather than just a single host.|MSH|N|
C1136249|An X-linked intellectual deficiency in which not enough information is known, reported or published to indicate whether a gene causes non-syndromic or syndromic presentations.|MONDO|N|
C1136321|Defective metabolism leading to fat maldistribution in patients infected with HIV. The etiology appears to be multifactorial and probably involves some combination of infection-induced alterations in metabolism, direct effects of antiretroviral therapy, and patient-related factors.|MSH|N|
C1136339|Infections with BACTERIA of the order Bifidobacteriales. This includes infections in the genera BIFIDOBACTERIUM and GARDNERELLA, in the family Bifidobacteriaceae.|MONDO|N|
C1137478|Splitting of the RETINA into two layers at the level of the outer plexiform layer, beginning as a cystic degeneration in the extreme retinal periphery. It usually occurs after 40 years of age and is generally not progressive.|MSH|N|
C1138407|Complement activation triggered by the interaction of microbial POLYSACCHARIDES with serum MANNOSE-BINDING LECTIN resulting in the activation of MANNOSE-BINDING PROTEIN-ASSOCIATED SERINE PROTEASES. As in the classical pathway, MASPs cleave COMPLEMENT C4 and COMPLEMENT C2 to form C3 CONVERTASE (C4B2A) and the subsequent C5 CONVERTASE (C4B2A3B) leading to cleavage of COMPLEMENT C5 and assembly of COMPLEMENT MEMBRANE ATTACK COMPLEX.|MSH|N|
C1138434|X-linked form of disease.|MONDO|N|
C1138568|The process by which cells convert mechanical stimuli into a chemical response. It can occur in both cells specialized for sensing mechanical cues such as MECHANORECEPTORS, and in parenchymal cells whose primary function is not mechanosensory.|MSH|N|
C1140680|Ovarian cancer is a disease that affects women. In this form of cancer, certain cells in the ovary become abnormal and multiply uncontrollably to form a tumor. The ovaries are the female reproductive organs in which egg cells are produced. In about 90 percent of cases, ovarian cancer occurs after age 40, and most cases occur after age 60.\n\nThe most common form of ovarian cancer begins in epithelial cells, which are the cells that line the surfaces and cavities of the body. These cancers can arise in the epithelial cells on the surface of the ovary. However, researchers suggest that many or even most ovarian cancers begin in epithelial cells on the fringes (fimbriae) at the end of one of the fallopian tubes, and the cancerous cells migrate to the ovary.\n\nCancer can also begin in epithelial cells that form the lining of the abdomen (the peritoneum). This form of cancer, called primary peritoneal cancer, resembles epithelial ovarian cancer in its origin, symptoms, progression, and treatment. Primary peritoneal cancer often spreads to the ovaries. It can also occur even if the ovaries have been removed. Because cancers that begin in the ovaries, fallopian tubes, and peritoneum are so similar and spread easily from one of these structures to the others, they are often difficult to distinguish. These cancers are so closely related that they are generally considered collectively by experts.\n\nIn about 10 percent of cases, ovarian cancer develops not in epithelial cells but in germ cells, which are precursors to egg cells, or in hormone-producing ovarian cells called granulosa cells.\n\nIn its early stages, ovarian cancer usually does not cause noticeable symptoms. As the cancer progresses, signs and symptoms can include pain or a feeling of heaviness in the pelvis or lower abdomen, bloating, feeling full quickly when eating, back pain, vaginal bleeding between menstrual periods or after menopause, or changes in urinary or bowel habits. However, these changes can occur as part of many different conditions. Having one or more of these symptoms does not mean that a woman has ovarian cancer.\n\nIn some cases, cancerous tumors can invade surrounding tissue and spread to other parts of the body. If ovarian cancer spreads, cancerous tumors most often appear in the abdominal cavity or on the surfaces of nearby organs such as the bladder or colon. Tumors that begin at one site and then spread to other areas of the body are called metastatic cancers.\n\nSome ovarian cancers cluster in families. These cancers are described as hereditary and are associated with inherited gene mutations. Hereditary ovarian cancers tend to develop earlier in life than non-inherited (sporadic) cases.\n\nBecause it is often diagnosed at a late stage, ovarian cancer can be difficult to treat; it leads to the deaths of about 14,000 women annually in the United States, more than any other gynecological cancer. However, when it is diagnosed and treated early, the 5-year survival rate is high.|MedlinePlus Genetics|N|
C1141880|A finding indicating an increased density of minerals in the bones. Causes include osteopetrosis and Paget disease.|NCI|N|
C1141883|The Premie-Neuro and the Dubowitz Neurological Examination score head lag in the same manner. Scoring for both is as follows|HPO|N|
C1141890|Congenital long QT syndrome is electrocardiographically characterized by a prolonged QT interval and polymorphic ventricular arrhythmias (torsade de pointes). These cardiac arrhythmias may result in recurrent syncope, seizure, or sudden death (Jongbloed et al., 1999).
A form of torsade de pointes in which the first beat has a short coupling interval has been described (613600).
Genetic Heterogeneity of Long QT Syndrome
Other forms of LQT syndrome (LQTS) are LQT2 (613688), caused by mutation in the KCNH2 gene (152427); LQT3 (603830), caused by mutation in the SCN5A gene (600163); LQT4 (see 600919), caused by mutation in the ANK2 gene (106410); LQT5 (613695), caused by mutation in the KCNE1 gene (176261); LQT6 (613693), caused by mutation in the KCNE2 gene (603796); LQT7 (Andersen cardiodysrhythmic periodic paralysis, 170390), caused by mutation in the KCNJ2 gene (600681); LQT8 (618447), caused by mutation in the CACNA1C gene (114205); LQT9 (611818), caused by mutation in the CAV3 gene (601253); LQT10 (611819), caused by mutation in the SCN4B gene (608256); LQT11 (611820), caused by mutation in the AKAP9 gene (604001); LQT12 (612955), caused by mutation in the SNTA1 gene (601017); LQT13 (613485), caused by mutation in the KCNJ5 gene (600734); LQT14 (616247), caused by mutation in the CALM1 gene (114180), LQT15 (616249), caused by mutation in the CALM2 gene (114182); and LQT16 (618782), caused by mutation in the CALM3 gene (114183).
Approximately 10% of LQTS patients in whom a mutation is identified in one ion channel gene carry a second mutation in the same gene or in another ion channel gene (Tester et al., 2005).
Reviews
Giudicessi and Ackerman (2016) reviewed the role of Ca(2+) cycling in cardiac repolarization and in the pathogenesis of long QT-associated cardiac arrhythmias.|OMIM|N|
C1142025|A squamous cell carcinoma that arises from the esophagus and has metastasized to another anatomic site.|NCI|N|
C1142052|A finding of increased space between the intersections of a newborn''s cranial bones.|NCI|N|
C1142053|Uncoordinated or ineffective drawing of saliva or breast milk by a newborn infant.|NCI|N|
C1142083|An uncommon complication of INTRAMUSCULAR INJECTION leading to variable degrees of necrosis of skin and underlying tissue.|MSH|N|
C1142113|Elevation in the concentration of albumin in the blood.|HPO|N|
C1142115|An infectious process affecting the small and large intestines. Symptoms include diarrhea, cramping abdominal pain, and fever.|NCI|N|
C1142132|Concentration of carnitine in the blood circulation below the lower limit of normal.|HPO|N|
C1142163|An abnormal growth in the small or large intestine.|NCI|N|
C1142166|Brugada syndrome is characterized by cardiac conduction abnormalities (ST segment abnormalities in leads V1-V3 on EKG and a high risk for ventricular arrhythmias) that can result in sudden death. Brugada syndrome presents primarily during adulthood, although age at diagnosis may range from infancy to late adulthood. The mean age of sudden death is approximately 40 years. Clinical presentations may also include sudden infant death syndrome (SIDS; death of a child during the first year of life without an identifiable cause) and sudden unexpected nocturnal death syndrome (SUNDS), a typical presentation in individuals from Southeast Asia. Other conduction defects can include first-degree AV block, intraventricular conduction delay, right bundle branch block, and sick sinus syndrome.|GeneReviews|N|
C1142169|The reemergence of acute myeloid leukemia after a period of remission.|NCI|N|
C1142170|A rare mycosis caused by Scedosporium species, with characteristics of disparate disease pictures including pneumonia, skin and soft tissue infection, mycetoma, and disseminated infection. Central nervous system infection has also been reported. Infections with this ubiquitous mould can occur in a range of contexts like solid organ transplantation, chemotherapy, chronic lung disease, but also in immunocompetent hosts and near drowning.|SNOMEDCT_US|N|
C1142175|The presence of a thrombus within a vascular shunt.|NCI|N|
C1142183|An infection that is caused by Orbivirus.|NCI|N|
C1142232|An erosion of the mucous membrane in the region connecting the ileum and cecum.|HPO|N|
C1142253|A painful restriction of joint motion caused by excessive scarring following injury or operative procedure.|SNOMEDCT_US|N|
C1142262|Accumulation of cell free, noninflammatony fluid within the wall of the intestinal tract producing uniform thickening of the mucosal folds.|HPO|N|
C1142264|A severe form of peripheral artery disease in which a hypoperfusion of the BLOOD through an organ or tissue is caused by occlusion of peripheral arterial vessels. It is associated with the presence of chronic ischemic rest pain, ulceration or GANGRENE.|MSH|N|
C1142272|A type of dermatosis characterized by dense infiltration of neutrophils in the skin without evidence of infection or vasculitis. It may be secondary to an underlying systemic illness.|NCI|N|
C1142300|An acute inflammatory disorder of the colon secondary to infection with any species of the bacterial genus Clostridium. Symptoms include acute diarrhea, abdominal pain, and myalgia.|NCI|N|
C1142305|Brown or black discoloration of the nails.|HPO|N|
C1142347|An adenocarcinoma that arises from the esophagus and has metastasized to another anatomic site.|NCI|N|
C1142349|An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the eyelid.|HPO|N|
C1142385|A benign ovarian cyst that develops and regresses during the menstrual cycle as part of normal ovarian function.|NCI|N|
C1142430|Psychogenic non-epileptic seizures (PNES) are not abnormal perceptions or abnormal beliefs/judgments, nor are they epileptic attacks. They are behaviors that simulate epileptic attacks, not fully consciously.|HPO|N|
C1142432|A rare, benign tumor of the pancreas characterized by variable number and size of the cysts lined with glycogen rich epithelial cells. Clinical manifestation may include epigastric or abdominal pain, weight loss, diabetes, jaundice and palpable abdominal mass. Some patients have no symptoms and the tumor is discovered incidentally.|ORDO|N|
C1142433|An electrocardiographic finding of an injury in leads corresponding to the anatomic region of the posteroinferior wall of the heart.|MONDO|N|
C1142436|A syndrome of emergence or increment of neuropsychiatric symptoms, such as confusion and behavioural disturbances, in the late afternoon, early evening or at night.|SNOMEDCT_US|N|
C1142471|A problem with a central venous access catheter or site of insertion.|NCI|N|
C1142487|A blockage of the intestinal stoma.|NCI|N|
C1142488|Leakage of contents from the intestinal stoma.|NCI|N|
C1142491|A papillomatous lesion that arises from the eyelid.|NCI|N|
C1142533|Flat skin surface, with no ridge formation in the central region of the upper lip between the nasal base and upper vermilion border.|HPO|N|
C1142536|Pneumonia that is caused by Staphylococcus aureus that is resistant to methicillin treatment.|NCI|N|
C1142550|Endocarditis affecting a native valve of the heart.|NCI|N|
C1142551|The QRS complexes of the electrocardiogram alternate in height.|HPO|N|
C1145628|A disease involving the autonomic nervous system.|MONDO|N|
C1145670|A severe form of respiratory insufficiency characterized by inadequate gas exchange such that the levels of oxygen or carbon dioxide cannot be maintained within normal limits.|HPO|N|
C1148433|The state or condition of being living or deceased; also includes the case where the vital status is unknown.|NCI|N|
C1148438|The result of observation and overall assessment of a subject''s outward aspect including appearance and movements; for example, in a human newborn general appearance includes skin color and tone, range of motion, and spontaneous movements.|NCI|N|
C1148477|Complete sensorineural hearing loss which develops suddenly over a period of hours or a few days.|MSH|N|
C1148546|A pathological condition characterized by the presence of a number of gastric diverticula in the stomach.|MONDO|N|
C1148551|Dyskeratosis congenita and related telomere biology disorders (DC/TBD) are caused by impaired telomere maintenance resulting in short or very short telomeres. The phenotypic spectrum of telomere biology disorders is broad and includes individuals with classic dyskeratosis congenita (DC) as well as those with very short telomeres and an isolated physical finding. Classic DC is characterized by a triad of dysplastic nails, lacy reticular pigmentation of the upper chest and/or neck, and oral leukoplakia, although this may not be present in all individuals. People with DC/TBD are at increased risk for progressive bone marrow failure (BMF), myelodysplastic syndrome or acute myelogenous leukemia, solid tumors (usually squamous cell carcinoma of the head/neck or anogenital cancer), and pulmonary fibrosis. Other findings can include eye abnormalities (epiphora, blepharitis, sparse eyelashes, ectropion, entropion, trichiasis), taurodontism, liver disease, gastrointestinal telangiectasias, and avascular necrosis of the hips or shoulders. Although most persons with DC/TBD have normal psychomotor development and normal neurologic function, significant developmental delay is present in both forms; additional findings include cerebellar hypoplasia (Hoyeraal Hreidarsson syndrome) and bilateral exudative retinopathy and intracranial calcifications (Revesz syndrome and Coats plus syndrome). Onset and progression of manifestations of DC/TBD vary: at the mild end of the spectrum are those who have only minimal physical findings with normal bone marrow function, and at the severe end are those who have the diagnostic triad and early-onset BMF.|GeneReviews|N|
C1148552|A mode of inheritance that depends on a mixture of major and minor genetic determinants possibly together with environmental factors. Diseases inherited in this manner are termed complex diseases.|HPO|N|
C1148564|Inhibition of the reactions brought about by dioxygen (O2) or peroxides. Usually the antioxidant is effective because it can itself be more easily oxidized than the substance protected. The term is often applied to components that can trap free radicals, thereby breaking the chain reaction that normally leads to extensive biological damage. [ISBN:0198506732]|GO|N|
C1148575|Antigen Binding Interaction involves specific and high affinity non-covalent interaction (binding) of an endogenous antibody through intermolecular physical forces of attraction and spatial complementarity with a soluble or particulate substance (antigen) that induces an immune response.|NCI|N|
C1148608|Heparin Binding involves a biophysical interaction between a biological molecule, such as a protein, and heparin, a sulfated glycosaminoglycan of mixed polysaccharide nature, varying in molecular weight, and released by mast cells and basophils in many tissues. Lipotrophic by activation of lipoprotein lipase, anticoagulant heparin also binds to and enhances antithrombin III activity and inhibits several coagulation factors.|NCI|N|
C1148609|Hyaluronic Acid Binding involves a biophysical interaction between a biological molecule, such as a protein, and hyaluronic acid, a linear glycosaminoglycan of repeating disaccharide units, in proteoglycans.|NCI|N|
C1148636|Lipid Binding is the molecular interaction between a lipid molecule and a macromolecule (usually protein) for transport, catalysis, localization, or modification of function.|NCI|N|
C1148642|Phospholipid Interaction involves the molecular interaction between a phospholipid molecule and a macromolecule (usually protein) for transport, catalysis, localization, or modification of function.|NCI|N|
C1149035|GTP Binding is a molecular interaction between specific proteins (containing a GTP binding site) and guanosine 5-prime triphosphate during diverse cellular processes, such as RNA synthesis, translation, signal transduction, and cytoskeletal assembly.|NCI|N|
C1149299|Growth Factor Interaction involves temporary non-covalent binding through intermolecular physical forces of attraction and often spatial complementarity with extracellular signaling molecules (ligands) involved in the control of target cell proliferation, survival, and differentiation.|NCI|N|
C1149475|The action characteristic of a hormone, any substance formed in very small amounts in one specialized organ or group of cells and carried (sometimes in the bloodstream) to another organ or group of cells in the same organism, upon which it has a specific regulatory action. The term was originally applied to agents with a stimulatory physiological action in vertebrate animals (as opposed to a chalone, which has a depressant action). Usage is now extended to regulatory compounds in lower animals and plants, and to synthetic substances having comparable effects; all bind receptors and trigger some biological process. [GOC:dph, GOC:mah, ISBN:0198506732]|GO|N|
C1149503|A process that involves the binding of an integrin to one of its ligands, including fibronectin, vitronectin, collagen and laminin. These interactions are involved in attachment of the cell to the extracellular matrix and transduction of signals related to cell growth, division, differentiation, survival and apoptosis.|NCI|N|
C1150596|The determination of the amount of total transforming growth factor beta in a biological specimen.|NCI|N|
C1151278|Catalysis of the reaction: sn-glycerol 3-phosphate + a quinone = glycerone phosphate + a quinol. [EC:1.1.5.3]|GO|N|
C1153433|Enables the facilitated diffusion of a calcium ion (by an energy-independent process) involving passage through a transmembrane aqueous pore or channel without evidence for a carrier-mediated mechanism. [GOC:mtg_transport, GOC:pr, ISBN:0815340729]|GO|N|
C1153706|An adenocarcinoma arising from the uterine body cavity. This is the most frequent malignant tumor affecting the uterine body, and is linked to estrogen therapy. Most patients present with uterine bleeding and are over age 40 at the time of diagnosis. The prognosis depends on the stage of the tumor, the depth of the uterine wall invasion, and the histologic subtype. Endometrioid adenocarcinoma is the most frequently seen morphologic variant of endometrial adenocarcinoma.|NCI|N|
C1154708|Aminoglycosides are widely used antibiotics which inhibit protein synthesis in bacteria by binding to bacterial 16S ribosomal subunits. Aminoglycosides are associated with a number of adverse events, including nephrotoxicity and ototoxicity. The risk of aminoglycoside-induced ototoxicity is increased in patients who carry certain variants in the MT-RNR1 gene. MT-RNR1 is found in the mitochondrial genome and encodes the 12S ribosomal subunit. Some MT-RNR1 variants cause the 12S subunit to more closely resemble the bacterial 16S subunit, which can lead to aminoglycoside molecules binding to the ribosome. This ultimately results in hearing loss due to cell death in the cochlea. The Clinical Pharmacogenetics Implementation Consortium (CPIC) have published recommendations on aminoglycoside use in patients carrying MT-RNR1 variants in the journal Clinical Pharmacology and Therapeutics. These recommendations are also available on the CPIC and PharmGKB websites.|PharmGKB|N|
C1154744|The chemical reactions and physical changes involving a xenobiotic compound, a compound foreign to living organisms. Used of chemical compounds, e. g. a xenobiotic chemical, such as a pesticide. (Gene Ontology)|NCI|N|
C1155266|A part of innate immunity, the Inflammatory Response occurs when injured tissues induce release of vasodilatory, opsonizing, and chemotactic mediators that attract macrophages and leukocytes to phagocytize and destroy foreign substances; dilate local blood vessels increasing local blood flow; increase capillary permeability; produce edematous swelling; and induce pain. Plasma- and cell-derived inflammatory mediators include Prostaglandins, Leukotrines, Cytokines, Lymphokines, Monokines, PAF, Histamine, Bradykinin, Complement, and Interferons.|NCI|N|
C1155363|The series of molecular signals initiated by an extracellular ligand binding to a transforming growth factor beta receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription. [GOC:BHF, GOC:mah, GOC:signaling]|GO|N|
C1155364|The series of molecular signals initiated by the binding of a member of the BMP (bone morphogenetic protein) family to a receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription. [GOC:signaling, ISBN:0878932437, PMID:17428827]|GO|N|
C1155393|The series of molecular signals initiated by a ligand binding to a hepatocyte growth factor receptor, and ending with the regulation of a downstream cellular process, e.g. transcription. [GOC:ceb]|GO|N|
C1155452|The series of molecular signals initiated by an extracellular ligand binding to the receptor Notch on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription. [GOC:go_curators, GOC:signaling]|GO|N|
C1155468|The series of molecular signals generated as a consequence of activation of the transmembrane protein Smoothened. [GOC:mah, PMID:15205520]|GO|N|
C1156199|Post-translational processing of amino acids within a histone protein.|NCI|N|
C1156200|Histone Acetylation involves covalent linkage of acetyl groups to highly basic histone proteins associated with DNA, particularly in active chromatin, and may be involved in regulation of gene expression.|NCI|N|
C1156201|Histone Deacetylation is the covalent post-translational enzymatic removal of acetyl group(s) from a histone protein. By exposing cationic sites on the protein that promote ionic interaction with the negatively charged DNA backbone, Histone Deacetylation induces DNA condensation and regulates genetic functions, such as transcription. (NCI)|NCI|N|
C1156202|The removal of covalent methyl group(s) from a histone protein, which modulates chromatin structures and plays a role in transcriptional regulation.|NCI|N|
C1156205|The covalent linkage of methyl groups to highly basic residues in histone proteins that may be involved in regulation of gene expression.|NCI|N|
C1156458|The chemical reactions and pathways involving galactose, the aldohexose galacto-hexose. D-galactose is widely distributed in combined form in plants, animals and microorganisms as a constituent of oligo- and polysaccharides; it also occurs in galactolipids and as its glucoside in lactose and melibiose. [ISBN:0198506732]|GO|N|
C1156542|The chemical reactions and pathways resulting in the formation of sterols, steroids with one or more hydroxyl groups and a hydrocarbon side-chain in the molecule. [GOC:go_curators]|GO|N|
C1156601|The chemical reactions and pathways resulting in the formation of lysine, 2,6-diaminohexanoic acid. [GOC:go_curators]|GO|N|
C1156778|Polyamine Catabolism is a destructive metabolic process in which low molecular weight cations, containing two or more amine groups (polyamines), are converted into excreted compounds.|NCI|N|
C1156787|The chemical reactions and pathways involving tryptophan, the chiral amino acid 2-amino-3-(1H-indol-3-yl)propanoic acid. [ISBN:0198547684]|GO|N|
C1156790|The chemical reactions and pathways involving tyrosine, an aromatic amino acid, 2-amino-3-(4-hydroxyphenyl)propanoic acid. [GOC:go_curators]|GO|N|
C1156808|The chemical reactions and pathways involving D-alanine, the D-enantiomer of the amino acid alanine, i.e. (2R)-2-aminopropanoic acid. [GOC:ai, GOC:jsg]|GO|N|
C1156823|The chemical reactions and pathways involving histidine, 2-amino-3-(1H-imidazol-4-yl)propanoic acid. [GOC:go_curators]|GO|N|
C1156837|The chemical reactions and pathways involving beta-alanine (3-aminopropanoic acid), an achiral amino acid and an isomer of alanine. It occurs free (e.g. in brain) and in combination (e.g. in pantothenate) but it is not a constituent of proteins. [GOC:jl, ISBN:0198506732]|GO|N|
C1156904|The chemical reactions and pathways resulting in the formation of keratan sulfate, a glycosaminoglycan with repeat units consisting of beta-1,4-linked D-galactopyranosyl-beta-(1,4)-N-acetyl-D-glucosamine 6-sulfate and with variable amounts of fucose, sialic acid and mannose units; keratan sulfate chains are covalently linked by a glycosidic attachment through the trisaccharide galactosyl-galactosyl-xylose to peptidyl-threonine or serine residues. [ISBN:0198547684, RESID:AA0247]|GO|N|
C1156922|Biogenic Amine Metabolism involves anabolic and catabolic biochemical changes to a type of nitrogen containing hydrocarbons (biogenic amines) involved in signaling as neurotransmitters or hormones or as components of vitamins, phospholipids, or ribosomes within a cell as materials needed for important life processes.|NCI|N|
C1157038|The chemical reactions and pathways resulting in the formation of folic acid, pteroylglutamic acid. [GOC:ai]|GO|N|
C1157079|Metabolic processes that utilize folic acid (as tetrahydrofolate) as a carbon unit donor.|NCI|N|
C1157168|The chemical reactions and pathways resulting in the formation of lactose, the disaccharide galactopyranosyl-glucose. [GOC:go_curators]|GO|N|
C1157183|A complex cycle of enzyme-mediated reactions which catalyzes the reduction of carbon dioxide to sugar. As well as carbon dioxide the cycle requires reducing power in the form of reduced nicotinamide adenine dinucleotide phosphate (NADP) and chemical energy in the form of adenosine triphosphate (ATP). The reduced NADP (NADPH) and ATP are produced by the ''light'' reactions. [ISBN:0582015952]|GO|N|
C1157189|The fixation of carbon dioxide (CO2) as glucose in the chloroplasts of C3 plants; uses ATP and NADPH formed in the light reactions of photosynthesis; carbon dioxide reacts with ribulose 1,5-bisphosphate (catalyzed by the function of ribulose-bisphosphate carboxylase) to yield two molecules of 3-phosphoglycerate; these are then phosphorylated by ATP to 1,3-bisphosphateglyceraldehyde which, in turn, is then reduced by NADPH to glyceraldehyde 3-phosphate. The glyceraldehyde 3-phosphate is converted to fructose 5-phosphate and ribulose 5-phosphate by aldolase and other enzymes; the ribulose 5-phosphate is phosphorylated by ATP to ribulose 1,5-bisphosphate. [ISBN:0198547684]|GO|N|
C1157209|The chemical reactions and pathways resulting in the formation of lipopolysaccharides, any of a group of related, structurally complex components of the outer membrane of Gram-negative bacteria. [GOC:ai, GOC:mr]|GO|N|
C1157248|The chemical reactions and pathways resulting in the formation of ubiquinone, a lipid-soluble electron-transporting coenzyme. [GOC:mah]|GO|N|
C1157344|The chemical reactions and pathways resulting in the formation of terpenoids, any member of a class of compounds characterized by an isoprenoid chemical structure. [GOC:ai]|GO|N|
C1157367|The chemical reactions and pathways resulting in the formation of ceramide oligosaccharides carrying in addition to other sugar residues, one or more sialic acid residues. [ISBN:0198506732]|GO|N|
C1157380|The major pathway for the biosynthesis of phosphatidylcholine occurs via the CDP-choline pathway. Choline kinase is the initial enzyme that produces phosphocholine from choline in the sequence and may play a regulatory role. (From LocusLink and NCI)|NCI|N|
C1157403|The chemical reactions and pathways resulting in the formation of bile acids, any of a group of steroid carboxylic acids occurring in bile. [GOC:go_curators]|GO|N|
C1157518|The enzymatic synthesis of PEPTIDES without an RNA template by processes that do not use the ribosomal apparatus (RIBOSOMES).|MSH|N|
C1157592|Nucleotide Biosynthesis consists of activities of biologic molecules or complexes involved in the enzymatic formation of nucleoside phosphates, the monomeric building blocks from which DNA or RNA polymers are constructed.|NCI|N|
C1157969|The chemical reactions and pathways resulting in the breakdown of a glycoprotein, a protein that contains covalently bound glycose (i.e. monosaccharide) residues; the glycose occurs most commonly as oligosaccharide or fairly small polysaccharide but occasionally as monosaccharide. [GOC:go_curators, ISBN:0198506732]|GO|N|
C1157990|A type of POST-TRANSLATIONAL PROTEIN MODIFICATION by SMALL UBIQUITIN-RELATED MODIFIER PROTEINS (also known as SUMO proteins).|MSH|N|
C1157996|The generation of ubiquitin from proproteins and the processing of polyubiquitin chains to release monomeric ubiquitin. (NCI)|NCI|N|
C1158188|The chemical reactions and pathways involving glutathione, the tripeptide glutamylcysteinylglycine, which acts as a coenzyme for some enzymes and as an antioxidant in the protection of sulfhydryl groups in enzymes and other proteins; it has a specific role in the reduction of hydrogen peroxide (H2O2) and oxidized ascorbate, and it participates in the gamma-glutamyl cycle. [ISBN:0198506732]|GO|N|
C1158323|Triglyceride Metabolism involves anabolic and catabolic biochemical changes to triglycerides.|NCI|N|
C1158327|The chemical reactions and pathways involving biotin, cis-tetrahydro-2-oxothieno(3,4-d)imidazoline-4-valeric acid; the (+) enantiomer is very widely distributed in cells and serves as a carrier in a number of enzymatic beta-carboxylation reactions. [ISBN:0198506732]|GO|N|
C1158330|Androgen Metabolism consists of diverse biochemical reactions in the adrenal cortex that produce 19-carbon steroid hormones, which promote male sexual development or convert such steroids to metabolic derivatives.|NCI|N|
C1158342|Estrogen Metabolism consists of diverse biochemical reactions primarily in the ovary that produce 19-carbon steroid hormones, which promote secondary female sexual development and menstrual function or convert such steroids to metabolic derivatives.|NCI|N|
C1158379|The chemical reactions and pathways involving glycerolipids, any lipid with a glycerol backbone. Diacylglycerol and phosphatidate are key lipid intermediates of glycerolipid biosynthesis. [GOC:ai, PMID:8906569]|GO|N|
C1158414|The chemical reactions and pathways involving globosides, globotetraosylceramides, ceramides containing a core structure of GalNAc-beta-(1->3)-Gal-alpha-(1->4)-Glc(I). Globosides are the major neutral glycosphingolipid in normal kidneys and erythrocytes. [ISBN:0198506732]|GO|N|
C1158419|Phospholipid Metabolism involves anabolic and catabolic biochemical changes made to phospholipids.|NCI|N|
C1158834|The chemical reactions and pathways involving methane, a colorless, odorless, flammable gas with the formula CH4. It is the simplest of the alkanes. [ISBN:0198506732]|GO|N|
C1158861|The chemical reactions and pathways involving pyruvate, 2-oxopropanoate. [GOC:go_curators]|GO|N|
C1158884|The covalent chemical or post-translational biochemical removal of a phosphate group(s) from a peptide or protein, by phosphatases. (NCI)|NCI|N|
C1158886|Protein phosphorylation is one of various post-translational protein modifications that regulates protein function and enzymatic activity. The major phosphoryl acceptors in proteins are serine, threonine, and tyrosine.|NCI|N|
C1158921|Peptide Metabolism involves cellular biotransforming chemical modifications of peptides.|NCI|N|
C1158944|Conformational transitions of a protein from unfolded states (after PROTEIN UNFOLDING) to a more folded state.|MSH|N|
C1159123|A biochemical reaction that covalently attaches nitric oxide to the sulfur atom in an organic thiol.|NCI|N|
C1159269|Post-translational enzymatic covalent addition of a methyl group(s) to a peptide or protein.|NCI|N|
C1159372|The process of targeting specific proteins to particular regions of the cell, typically membrane-bounded subcellular organelles. Usually requires an organelle specific protein sequence motif. [GOC:ma]|GO|N|
C1159409|The chemical reactions and pathways involving the nonmetallic element sulfur or compounds that contain sulfur, such as the amino acids methionine and cysteine or the tripeptide glutathione. [GOC:ai]|GO|N|
C1159439|The chemical reactions and pathways involving thiamine (vitamin B1), a water soluble vitamin present in fresh vegetables and meats, especially liver. [GOC:jl, ISBN:0198506732]|GO|N|
C1159440|The chemical reactions and pathways involving riboflavin (vitamin B2), the precursor for the coenzymes flavin mononucleotide (FMN) and flavin adenine dinucleotide (FAD). [GOC:jl, http://www.indstate.edu/thcme/mwking/vitamins.html]|GO|N|
C1159825|Caspase Activation involves induction of the activity of intracellular cysteine endopeptidase family members kept inactive by mitochondrial surface proteins (BcL-2 Family) and involved in initial signaling and downstream proteolytic cleavages (at P1 aspartic acids) in inflammation and apoptotic cell death when signals block BcL-2 function and activators initiate caspase cascades.|NCI|N|
C1167622|Involves temporary, non-covalent binding of two or more molecules as a result of intermolecular physical forces and often involves spatial complementarity between the interacting objects.|NCI|N|
C1167648|An infection that affects the gastrointestinal system and the abdomen.|NCI|N|
C1167650|Polyneuropathy that is persistent or long-standing in nature.|NCI|N|
C1167655|A laboratory test result indicating abnormally high concentration of hydroxyproline in the urine.|NCI|N|
C1167657|A laboratory test result indicating other than normal parameters after a phenolsulfonphthaliein test.|NCI|N|
C1167658|A laboratory test result indicating normal parameters after a phenolsulfonphthaliein test.|NCI|N|
C1167662|A constellation of features seen in the hyperinsulinemic fetus of a diabetic mother that include macrosomia, postnatal hypoglycemia and polycythemia.|NCI|N|
C1167667|Diabetic mastopathy are noncancerous lesions in the breast most commonly diagnosed in premenopausal women with type 1 diabetes. The cause of this condition is unknown. Symptoms may include hard, irregular, easily movable, discrete, painless breast mass(es).|MONDO|N|
C1167709|Death of keratinocytes in the epidermis layer of the skin, which generally manifests as extensive exfoliation (separation of the epidermis from the underlying dermis).|HPO|N|
C1167732|Inflammation of both the PERICARDIUM and the PLEURA.|MSH|N|
C1167735|Stage I includes: (T1, N0, M0); (T2, N0, M0). T1: Tumor invades lamina propria or submucosa. T2: Tumor invades muscularis propria. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C1167736|Stage II includes: IIA (T3, N0, M0); IIB (T4, N0, M0). T3: Tumor invades through the muscularis propria into the subserosa or into the nonperitonealized perimuscular tissue (mesentery or retroperitoneum) with extension 2 cm or less. T4: Tumor perforates the visceral peritoneum or directly invades other organs or structures (including other loops of small intestine, mesentery, or retroperitoneum more than 2 cm, and abdominal wall by way of serosa; for duodenum only, invasion of pancreas or bile duct). N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C1167737|Stage III includes: IIIA (Any T, N1, M0); IIIB (Any T, N2, M0); N1: Metastasis in 1-3 regional lymph nodes. N2: Metastasis in four or more regional lymph nodes. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C1167738|Stage IV includes: Any T, Any N, M1. M1: Distant metastasis. (AJCC 7th ed.)|NCI|N|
C1167767|A necrotic process occurring in the gallbladder.|NCI|N|
C1167782|Abnormal permanent enlargement of the lung air spaces distal to terminal bronchiole not resulted from wall destruction, e.g. due to loss of opposite lung.|NCI|N|
C1167806|An abnormally increased level of circulating alpha-globulin. Alpha globulins are a group of serum proteins defined by their mobility on serum electrophoresis. The alpha1-protein fraction is comprised of alpha1-antitrypsin, thyroid-binding globulin, and transcortin. Ceruloplasmin, alpha2-macroglobulin, and haptoglobin contribute to the alpha2-protein band. The alpha2 component is increased as an acute-phase reactant.|HPO|N|
C1167866|Encapsulated collection of lymphatic fluid around a transplanted kidney.|NCI|N|
C1167918|Increased concentration of lactate in the cerebrospinal fluid.|HPO|N|
C1167986|An increase in any of the parameters used to measure the mechanical function of the lungs and associated structures.|NCI|N|
C1168004|CSF albumin level is below the lower limit of normal.|HPO|N|
C1168153|Pathological deposition of calcium salts in one or more arteries.|HPO|N|
C1168173|A clinical variant of iridocorneal endothelial (ICE) syndrome, characterized by variable iris atrophy, pigmented and pedunculated nodules on the iris and corneal abonormalities. Secondary glaucoma is also a common complication of the disease.|ORDO|N|
C1168198|Recurrent respiratory papillomatosis is a rare respiratory disease characterized by the development of exophytic papillomas, affecting the mucosa of the upper aero-digestive tract (with a strong predilection for the larynx), caused by an infection with human papilloma virus. Symptoms at presentation may include hoarseness, chronic cough, dyspnea, recurrent upper respiratory tract infections, pneumonia, dysphagia, stridor, and/or failure to thrive.|ORDO|N|
C1168199|Stage IVA includes: T4, N0-1, M0. T4: Tumor invades the main portal vein or hepatic artery, or invades two or more extrahepatic organs or structures. N0: No regional lymph node metastasis. N1: Metastases to nodes along the cystic duct, common bile duct, hepatic artery, and/or portal vein. M0: No distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C1168200|Stage IVB includes: (Any T, N2, M0); (Any T, Any N, M1). N2: Metastases to periaortic, pericaval, superior mesenteric artery, and/or celiac artery lymph nodes. M0: No distant metastasis. M1: Distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C1168205|Stage IVA carcinoma of the liver according to the American Joint Committee on Cancer, 7th and 8th editions.|NCI|N|
C1168218|Stage I includes: IA: (T1, N0, M0); IB: (T2, N0, M0). T1: Tumor confined to the bile duct histologically. T2: Tumor invades beyond the wall of the bile duct. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th ed.)|NCI|N|
C1168219|Stage II includes: IIA: (T3, N0, M0); IIB: (T1, N1, M0); (T2, N1, M0); (T3, N1, M0). T3: Tumor invades the liver, gallbladder, pancreas, and/or unilateral branches or the portal vein (right or left) or hepatic artery (right or left). N1: Regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th ed.)|NCI|N|
C1168220|Stage III includes: T4, Any N, M0. T4: Tumor invades any of the following main portal vein or its branches bilaterally, common hepatic artery, or other adjacent structures, such as the colon, stomach, duodenum, or abdominal wall. N0: No regional lymph node metastasis. N1: Regional lymph node metastasis. M0: Distant metastasis. (AJCC 6th ed.)|NCI|N|
C1168225|Inflammation of the anatomical structures of the inner ear secondary to an infectious process. Symptoms include severe vertigo, nausea, vomiting, anxiety, and pain. Viral etiology is most common, and recent history of an upper respiratory infection is common. In rare cases an infection of the middle ear can spread to the inner ear, resulting in a bacterial or fungal etiology.|MONDO|N|
C1168239|An asymmetriy, i.e., difference in size, shape or position between the left and right ear.|HPO|N|
C1168241|A reduction in the strength of the eye muscles.|NCI|N|
C1168250|Back flow of gastric contents to the LARYNGOPHARYNX where it comes in contact with tissues of the upper aerodigestive tract. Laryngopharyngeal reflux is an extraesophageal manifestation of GASTROESOPHAGEAL REFLUX.|MSH|N|
C1168318|An electrocardiographic finding in which the ventricular rhythm is controlled by an electrical impulse from an artificial cardiac pacemaker. (CDISC)|NCI|N|
C1168320|An electrocardiographic finding in which the atrial rhythm is controlled by an electrical impulse from an artificial cardiac pacemaker. (CDISC)|NCI|N|
C1168327|Prostatic intraepithelial neoplasia characterized by the presence of morphologically malignant cells lining the acini and ducts. The malignant cells are enlarged, contain prominent nucleoli, and have increased nuclear/cytoplasmic ratio. The malignant cells may grow within the ducts and acini in four architectural patterns: flat, tufting, micropapillary, and cribriform. The presence of high grade prostatic intraepithelial neoplasia in needle biopsy is a risk factor for the subsequent detection of carcinoma on repeat biopsy.|NCI|N|
C1168328|Prostatic intraepithelial neoplasia characterized by the proliferation of secretory cells with irregular spacing in the ducts and acini. Although some proliferating epithelial cells may contain prominent nucleoli, the cytologic atypia and architectural growth patterns that are seen in the high grade prostatic intraepithelial neoplasia are absent. The presence of low grade prostatic intraepithelial neoplasia in needle biopsy is not a risk factor for the subsequent detection of carcinoma on repeat biopsy.|NCI|N|
C1168401|Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. Squamous cells are found in the outer layer of skin and in the mucous membranes, which are the moist tissues that line body cavities such as the airways and intestines. Head and neck squamous cell carcinoma (HNSCC) develops in the mucous membranes of the mouth, nose, and throat.\n\nHNSCC is classified by its location: it can occur in the mouth (oral cavity), the middle part of the throat near the mouth (oropharynx), the space behind the nose (nasal cavity and paranasal sinuses), the upper part of the throat near the nasal cavity (nasopharynx), the voicebox (larynx), or the lower part of the throat near the larynx (hypopharynx). Depending on the location, the cancer can cause abnormal patches or open sores (ulcers) in the mouth and throat, unusual bleeding or pain in the mouth, sinus congestion that does not clear, sore throat, earache, pain when swallowing or difficulty swallowing, a hoarse voice, difficulty breathing, or enlarged lymph nodes.\n\nHNSCC can spread (metastasize) to other parts of the body, such as the lymph nodes or lungs. If it spreads, the cancer has a worse prognosis and can be fatal. About half of affected individuals survive more than five years after diagnosis.|MedlinePlus Genetics|N|
C1168510|Urine valine level above the normal range.|HPO|N|
C1171164|Increased chance of harm during the period supporting the bringing forth of an offspring / child|CCC|N|
C1171168|Increased chance of injury during the operative processes|CCC|N|
C1171307|A health difference that adversely affects disadvantaged populations.|NCI|N|
C1175175|A rare pulmonary disease induced by SARS-CoV coronavirus infection, with a reported incubation period varying from 2 to 7 days. Patients present flu-like symptoms, including fever, malaise, myalgia, headache, diarrhoea, and rigors. Dry, nonproductive, cough and dyspnea are frequently reported. Severe cases evolve rapidly, progressing to respiratory distress and failure, requiring intensive care. Mortality rate is 10%. The disease appeared in 2002 in southern China, subsequently spreading in 2003 to 26 countries. Reported human-to-human transmission occurred in Toronto (Canada), Hong Kong Special Administrative Region of China, Chinese Taipei, Singapore, and Hanoi (Viet Nam).|ORDO|N|
C1176475|Malignant neoplasms involving the ductal systems of any of a number of organs, such as the MAMMARY GLANDS, the PANCREAS, the PROSTATE, or the LACRIMAL GLAND.|MSH|N|
C1184919|Over curvature of the thoracic region, leading to a round back or if sever to a hump.|HPO|N|
C1184923|An abnormal accentuation of the inward curvature of the spine in the lumbar region.|HPO|N|
C1185616|Upward and/or sideward growth of anterior hair.|HPO|N|
C1253936|Abnormally increased amount of fluid in a joint cavity, usually as a result of joint inflammation.|NCI|N|
C1254481|An issue is based on the patient.|NCI|N|
C1257752|Malnutrition, occurring in infants ages 1 month to 24 months, which is due to insufficient intake of food, dietary nutrients, or a pathophysiologic condition which prevents the absorption and utilization of food. Growth and development are markedly affected.|MSH|N|
C1257753|Malnutrition occurring in children ages 2 to 12 years, which is due to insufficient intake of food, dietary nutrients, or a pathophysiologic condition which prevents the absorption and utilization of food. Growth and development are markedly affected.|MSH|N|
C1257763|An imbalanced nutritional status resulting from excessive intake of nutrients. Generally, overnutrition generates an energy imbalance between food consumption and energy expenditure leading to disorders such as obesity.|MONDO|N|
C1257790|An increase number of repeats of a genomic, tandemly repeated DNA sequence from one generation to the next.|MSH|N|
C1257796|Characterized by the diverticulum arising from the extrahepatic biliary tree.|MSH|N|
C1257797|Characterized by the choledochocele dilatation of the distal portion of the COMMON BILE DUCT in the DUODENUM where the pancreatic duct (PANCREATIC DUCTS) enters.|MSH|N|
C1257798|Characterized by the presence of multiple extrahepatic and intrahepatic cysts.|MSH|N|
C1257799|Characterized by the presence of a singular or multiple intrahepatic cysts.|MSH|N|
C1257806|The instability of chromosomes is attributed to the continuous formation of novel chromosome mutations. These mutations form at an elevated rate in comparison to the normal cell population. The increased frequency of structural chromosome aberrations can be caused by an abnormally high incidence of DNA double-strand breaks and translocations. Screening for chromosomal breakage and rearrangement is used as a diagnostic tool in Fanconi anemia.|NCI|N|
C1257809|Errors in metabolic processing of steroids resulting from inborn genetic mutations that are inherited or acquired in utero.|MONDO|N|
C1257861|The inability of the colon to modify stool to an acceptable consistency and move the stool from the cecum to the rectosigmoid area at least once every three days.|HPO|N|
C1257877|Pheochromocytoma not originating from the adrenal medulla but from another source such as from chromaffin cells in or about sympathetic ganglia.|HPO|N|
C1257878|Infections with bacteria of the family PISCIRICKETTSIACEAE, causing septicemic disease of salmonid fish (SALMONIDAE). Piscirickettsia-like bacteria are also associated with disease syndromes in non-salmonid fish.|MSH|N|
C1257899|Exposure to DNA-damaging agents and subsequent energy expenditures by a cell to repair DNA damage. Genotoxic stress elicits biochemical responses that either enhance cell survival or lead to cell death. These biochemical responses include DNA-damage-inducible repair and increasing expression of a variety of proteins by both transcriptional and post-transcriptional mechanisms. Genotoxic stresses frequently activate signal transduction pathways that originate in the cell membrane or cytoplasm, triggering similar phosphorylation cascades to those induced by the activation of cell-surface receptors.|NCI|N|
C1257915|The presence of multiple polyps in the intestine.|HPO|N|
C1257931|Tumor or cancer of the human MAMMARY GLAND.|MSH|N|
C1257958|A metabolic disorder characterized by abnormal blood glucose levels.|NCI|N|
C1257960|A rare autosomal recessive lysosomal storage disease characterized by a deficient activity of the enzymes alpha-D-mannosidase or beta-mannosidase. Clinical signs and symptoms include hepatomegaly, splenomegaly, hearing loss, mental retardation, skeletal abnormalities, and recurrent respiratory infections.|NCI|N|
C1257965|A GLUCOSE-induced HYPERINSULINEMIA, a marker of insulin-resistant state. It is a mechanism to compensate for reduced sensitivity to insulin.|MSH|N|
C1258012|Aggregation of ERYTHROCYTES in vivo, caused by specific interactions such as those induced by antibodies.|MSH|N|
C1258034|Infections with viruses of the genus avulavirus, family paramyxoviridae. This includes newcastle disease and other infections of domestic fowl.|MONDO|N|
C1258039|Infections with viruses of the genus HENIPAVIRUS, family PARAMYXOVIRIDAE.|MSH|N|
C1258062|Pharmacological activities at the molecular level of DRUGS and other exogenous compounds that are used to treat DISEASES and affect normal BIOCHEMISTRY.|MSH|N|
C1258090|A chronic, clinically mild, infectious pneumonia of PIGS caused by MYCOPLASMA HYOPNEUMONIAE. Ninety percent of swine herds worldwide are infected with this economically costly disease that primarily affects animals aged two to six months old. The disease can be associated with porcine respiratory disease complex. PASTEURELLA MULTOCIDA is often found as a secondary infection.|MSH|N|
C1258104|A variant of systemic scleroderma characterized by sclerosis of the skin, Raynaud phenomenon, and organ involvement, including pulmonary fibrosis, renal disease, and gastrointestinal tract involvement.|NCI|N|
C1258215|Acute obstruction of the intestines preventing passage of the contents of the intestines.|HPO|N|
C1258218|Infections with bacteria of the family Desulfovibrionaceae.|MSH|N|
C1258222|Infections with bacteria of the family Fusobacteriaceae, in the order Fusobacterales, phylum fusobacteria.|MONDO|N|
C1258223|Infections with bacteria of the family FLAVOBACTERIACEAE.|MSH|N|
C1258224|Infections with bacteria of the family CYTOPHAGACEAE.|MSH|N|
C1258225|Infections with bacteria of the family MORAXELLACEAE.|MSH|N|
C1258666|Nodular tumor-like lesions or mucoid flesh, arising from tendon sheaths, LIGAMENTS, or JOINT CAPSULE, especially of the hands, wrists, or feet. They are not true cysts as they lack epithelial wall. They are distinguished from SYNOVIAL CYSTS by the lack of communication with a joint cavity or the SYNOVIAL MEMBRANE.|MSH|N|
C1260325|A rare dendritic cell neoplasm characterized by a proliferation of spindled to ovoid cells with morphological and immunophenotypic features of follicular dendritic cells. Conventional follicular dendritic cell sarcomas are negative for EBV. The tumor arises as a painless, slow-growing mass in lymph nodes (most often cervical), extranodal sites (such as tonsils, gastrointestinal tract, soft tissue, mediastinum, or lung, among others), or both. Paraneoplastic pemphigus may occur in rare cases. Predictive factors are tumor size, presence of coagulative necrosis, mitotic count, and presence of significant cytological atypia.|ORDO|N|
C1260326|A neoplastic proliferation of spindle to ovoid cells which show phenotypic features similar to those of interdigitating dendritic cells. The clinical course is generally aggressive. (WHO, 2008)|NCI|N|
C1260327|A rare dendritic cell tumor characterized by an aggressive, high-grade neoplasm derived from Langerhans cells, most commonly extranodal and multifocal, involving the skin and underlying soft tissue, as well as lung, liver, spleen, and bone. Primary nodal involvement is seen in a minority of patients. Immune-phenotyping and the presence of Birbeck granules on ultrastructural examination reveal the Langerhans cell derivation of the neoplastic cells. Prognosis is generally poor.|ORDO|N|
C1260438|Separation of the umbilical cord occurs at an abnormally late timepoint.|HPO|N|
C1260873|Bicuspid, or bicommissural, aortic valve (BAV) describes an aortic valve with 2 rather than 3 leaflets (Cripe et al., 2004). In 1 to 2% of the population a bicuspid aortic valve is present. Bicuspid aortic valve is frequently an antecedent to aortic valve stenosis or insufficiency. In extreme cases the blood flow may be so restricted that the left ventricle fails to grow, resulting in hypoplastic left heart syndrome (241550) (Garg et al., 2005). The valve calcification often observed in bicuspid aortic valve is a result of inappropriate activation of osteoblast-specific gene expression. Mutations in the signaling and transcription regulator NOTCH1 cause a spectrum of developmental aortic valve anomalies and severe valve calcification in nonsyndromic autosomal dominant human pedigrees.
Genetic Heterogeneity of Aortic Valve Disease
Also see AOVD2 (614823), caused by mutation in the SMAD6 gene (602931) on chromosome 15q22, and AOVD3 (618496), caused by mutation in the ROBO4 gene (607528) on chromosome 11q24. There is evidence for additional genetic heterogeneity (see MAPPING).|OMIM|N|
C1260879|Autoimmune progesterone dermatitis (APD) is primarily characterized by a recurrent skin rash that varies in severity depending on the phase of the menstrual cycle. The rash generally appears during the second half of the cycle when levels of the hormone, progesterone, begin to rise and it subsides shortly after menstruation. Although the exact underlying cause of APD is not well understood, it is thought to involve an abnormal immune reaction (autoimmune response) triggered by a woman's own progesterone. Depending on the severity of the condition, treatment may include topical (applied to the skin) medications, systemic corticosteroids, hormone therapy to suppress the production of progesterone, and/or surgical removal of the ovaries.|MONDO|N|
C1260880|Increased discharge of mucus from the nose.|HPO|N|
C1260886|A rare lymphoproliferative disorder that affects the lungs. It is characterized by the presence of an angiocentric and angiodestructive polymorphic cellular infiltrate composed of EBV-positive neoplastic B-lymphocytes and reactive T-lymphocytes. The majority of patients present with bilateral nodular lesions in the lungs. The prognosis depends on the histologic grade of the lesions. One third of patients with grade 1 lesions and two thirds of patients with grade 2 lesions progress to non-Hodgkin lymphoma. Grade 3 lesions, by definition, are classified as non-Hodgkin lymphomas.|NCI|N|
C1260890|Duplication of the spinal cord.|HPO|N|
C1260899|Diamond-Blackfan anemia (DBA) is characterized by a profound normochromic and usually macrocytic anemia with normal leukocytes and platelets, congenital malformations in up to 50%, and growth deficiency in 30% of affected individuals. The hematologic complications occur in 90% of affected individuals during the first year of life. The phenotypic spectrum ranges from a mild form (e.g., mild anemia or no anemia with only subtle erythroid abnormalities, physical malformations without anemia) to a severe form of fetal anemia resulting in nonimmune hydrops fetalis. DBA is associated with an increased risk for acute myelogenous leukemia (AML), myelodysplastic syndrome (MDS), and solid tumors including osteogenic sarcoma.|GeneReviews|N|
C1260903|Qualitatively abnormal fibrinogen.|HPO|N|
C1260915|Latent syphilis when infection was acquired more than twelve months previously.|NCI|N|
C1260920|In a position where one or both knees are on the ground.|NCI|N|
C1260922|When you''re short of breath, it''s hard or uncomfortable for you to take in the oxygen your body needs. You may feel as if you''re not getting enough air. Sometimes you can have mild breathing problems because of a stuffy nose or intense exercise. But shortness of breath can also be a sign of a serious disease.CHAR(13) Many conditions can make you feel short of breath:CHAR(13)  	-Lung conditions such as asthma, emphysema, or pneumonia. CHAR(13) 	-Problems with your trachea or bronchi, which are part of your airway system. CHAR(13) 	-Heart disease can make you feel breathless if your heart cannot pump enough blood to supply oxygen to your body. CHAR(13) 	-Anxiety and panic attacks. CHAR(13) 	-Allergies. CHAR(13)  If you often have trouble breathing, it is important to find out the cause.CHAR(13)|MEDLINEPLUS|N|
C1260926|An abnormality of the pigmentation of the skin.|HPO|N|
C1260959|Drusen (singular, 'druse') are tiny yellow or white accumulations of extracellular material (lipofuscin) that build up in Bruch's membrane of the eye.|HPO|N|
C1260961|Pressure-induced localized lipoatrophy is a rare, acquired, localized lipodystrophy characterized by band-like, horizontal, asymptomatic, lipoatrophic depressions with clinically normal overlying skin usually involving the anterolateral aspect of the thighs. An identifiable history of the repeated mechanical microtrauma due to occupational or postural habits is present.|ORDO|N|
C1260964|An adenocarcinoma that arises from eccrine glands.|NCI|N|
C1260965|A rare soft tissue tumor characterized by a lobulated, localized (lipoblastoma) or diffuse (lipoblastomatosis) lesion resembling fetal adipose tissue, composed of mature and immature adipocytes. It is most commonly found during the first years of life and presents as a slowly growing, well circumscribed mass, which may compress adjacent structures, depending on the location. Malignant transformation or metastasis does not occur, while recurrences are described especially in lipoblastomatosis.|ORDO|N|
C1260966|A rare, benign, intraosseous neoplasm arising from tooth-forming tissues in the mandible and maxilla. It is characterized by the presence of odontogenic epithelium which is embedded in a fibrous stroma. Local enucleation of the tumor is curative.|NCI|N|
C1261128|Mulvihill-Smith syndrome is characterized by premature aging, multiple pigmented nevi, lack of facial subcutaneous fat, microcephaly, short stature, sensorineural hearing loss, and mental retardation. Immunodeficiency may also be a feature. Adult manifestations include the development of tumors, a sleep disorder with severe insomnia, and cognitive decline (summary by Yagihashi et al., 2009).|OMIM|N|
C1261175|Pontocerebellar hypoplasia is a group of related conditions that affect the development of the brain. The term "pontocerebellar" refers to the pons and the cerebellum, which are the brain structures that are most severely affected in many forms of this disorder. The pons is located at the base of the brain in an area called the brainstem, where it transmits signals between the cerebellum and the rest of the brain. The cerebellum, which is located at the back of the brain, normally coordinates movement. The term "hypoplasia" refers to the underdevelopment of these brain regions.\n\nPontocerebellar hypoplasia also causes impaired growth of other parts of the brain, leading to an unusually small head size (microcephaly). This microcephaly is usually not apparent at birth but becomes noticeable as brain growth continues to be slow in infancy and early childhood.\n\nResearchers have described at least ten types of pontocerebellar hypoplasia. All forms of this condition are characterized by impaired brain development, delayed development overall, problems with movement, and intellectual disability. The brain abnormalities are usually present at birth, and in some cases they can be detected before birth. Many children with pontocerebellar hypoplasia live only into infancy or childhood, although some affected individuals have lived into adulthood.\n\nThe two major forms of pontocerebellar hypoplasia are designated as type 1 (PCH1) and type 2 (PCH2). In addition to the brain abnormalities described above, PCH1 causes problems with muscle movement resulting from a loss of specialized nerve cells called motor neurons in the spinal cord, similar to another genetic disorder known as spinal muscular atrophy. Individuals with PCH1 also have very weak muscle tone (hypotonia), joint deformities called contractures, vision impairment, and breathing and feeding problems that are evident from early infancy.\n\nCommon features of PCH2 include a lack of voluntary motor skills (such as grasping objects, sitting, or walking), problems with swallowing (dysphagia), and an absence of communication, including speech. Affected children typically develop temporary jitteriness (generalized clonus) in early infancy, abnormal patterns of movement described as chorea or dystonia, and stiffness (spasticity). Many also have impaired vision and seizures.\n\nThe other forms of pontocerebellar hypoplasia, designated as type 3 (PCH3) through type 10 (PCH10), appear to be rare and have each been reported in only a small number of individuals. Because the different types have overlapping features, and some are caused by mutations in the same genes, researchers have proposed that the types be considered as a spectrum instead of distinct conditions.|MedlinePlus Genetics|N|
C1261251|A rare, non-syndromic urogenital tract malformation characterized by the absence of a vagina or the presence of a vaginal dimple shorter than 5 cm. It is often associated with uterine agenesis, hematocolpos or primary amenorrhea and dyspareunia. Ovaries and fallopian tubes are normal.|ORDO|N|
C1261278|Inflammation of the trigone of the urinary bladder.|NCI|N|
C1261281|A disease or disorder that is associated with a transplanted kidney.|NCI|N|
C1261282|A disease or disorder that is associated with a transplanted liver.|NCI|N|
C1261283|A chronic granulomatous inflammation involving the deep dermis and the subcutaneous tissues. It is caused by Actinomycetes bacteria.|NCI|N|
C1261287|Narrowing or stricture of a vessel, duct or canal.|NCI|N|
C1261325|A history of a first-degree family member with breast cancer.|NCI|N|
C1261326|A history of a first-degree family member with leukemia.|NCI|N|
C1261358|A sarcoma characterized by the presence of large, anaplastic malignant cells.|NCI|N|
C1261367|A history of a first-degree relative that has had a stroke.|NCI|N|
C1261378|A history of a first-degree family member with an unspecified cancer.|NCI|N|
C1261392|Hypersensitivity in form of an adverse immune reaction against insect bites.|HPO|N|
C1261470|A congenital abnormality in which the meninges protrude through a defect in the spinal column or the cranium.|NCI|N|
C1261473|A connective tissue neoplasm formed by proliferation of mesodermal cells. Bone and soft tissue sarcomas are the main types of sarcoma. Sarcoma is usually highly malignant.|HPO|N|
C1261502|MCH is the HEMOGLOBIN divided by the ERYTHROCYTE COUNT.|MSH|N|
C1261504|An abnormality of XY sexual development characterized by the absence of both testes at birth.|HPO|N|
C1261566|A congenital deformity in which there is no laryngeal structure.|NCI|N|
C1261567|Tracheal agenesis (TA) is a rare congenital malformation in which the trachea may be completely absent (agenesis), or partially in place but underdeveloped (atresia). In both cases, proximal-distal communication between the larynx and the alveoli of the lungs is lacking.|ORDO|N|
C1262020|Diffuse alveolar damage (DAD) describes a common histologic injury pattern of the lung. The early stages are characterized by epithelial cell necrosis and sloughing, fibrous exsudate, edema, and hyaline membranes made of surfactant and proteins, filling the alveoli. This results in impaired gas exchange. In later stages, type II cells and myofibroblasts proliferate within the interstitium and airspaces. The corresponding clinical entity is acute respiratory distress syndrome (ARDS). DAD may result from pulmonary drug toxicity, occurs in immunosuppressed, severe viral infections, acute interstial pneumonitis, and crack cocaine inhalation.|HPO|N|
C1262087|A primary headache disorder with characteristics of unilateral trigeminal pain that occurs in association with ipsilateral cranial autonomic symptoms (conjunctival injection and tearing). The disease manifests with strictly unilateral pain attacks of moderate-to-severe intensity. The typical patient may have 50 to 100 short attacks a day, lasting for 1 to 5 minutes. The attacks predominate during the daytime. Prominent, ipsilateral conjunctival injection and lacrimation regularly accompany the attacks. Trauma, arteriovenous malformations and pituitary adenoma may have a causative role.|SNOMEDCT_US|N|
C1262098|Hyperthyroidism, the cause of which is present at birth.|NCI|N|
C1262113|Hypertrophy of the subcutaneous adipose tissue at the site of multiple subcutaneous injections of insulin.|NCI|N|
C1262117|A rare disorder of the anterior segment of the eye characterized by ocular infection by human-pathogenic fungi, most commonly <i>Aspergillus</i>, <i>Candida</i>, or <i>Fusarium</i> species, which gain access into the corneal stroma through a defect in the corneal epithelium. Risk factors include trauma, ocular surface disease, contact lenses, or immunocompromised state. Patients present with pain, foreign body sensation, redness, photophobia, tearing, secretion, or blurred vision. The condition may be complicated by corneal destruction and perforation, endophthalmitis, scleritis, and panophthalmitis.|ORDO|N|
C1262147|The onset of acute renal failure, normally coupled with marked hypertension in a patient with scleroderma.|NCI|N|
C1262166|Hypersensitivity in form of an adverse immune reaction against parasites.|HPO|N|
C1262206|An overuse injury causing lateral knee pain that results from repetitive friction of the iliotibial band over the lateral femoral epicondyle.|MSH|N|
C1262241|A melanoma that arises from mucosa of the stomach.|NCI|N|
C1262254|Persistent blue color of the skin that surrounds the mouth.|HPO|N|
C1262280|Tubulointerstitial hemorrhage resulting from hantavirus infection.|NCI|N|
C1262313|Fungal infection characterized by invasion of host tissues.|HPO|N|
C1262477|Reduction of total body weight.|HPO|N|
C1262481|Eosinophilic infiltration of one or more gastrointestinal organs. Gastrointestinal eosinophilia is a broad term for abnormal eosinophil accumulation in the GI tract, involving many different disease identities. These diseases include primary eosinophil associated gastrointestinal diseases, gastrointestinal eosinophilia in HES and all gastrointestinal eosinophilic states associated with known causes. Each of these diseases has its unique features but there is no absolute boundary between them.|HPO|N|
C1262760|Liver disease lasting six months or more, caused by an adverse drug effect. The adverse effect may result from a direct toxic effect of a drug or metabolite, or an idiosyncratic response to a drug or metabolite.|MONDO|N|
C1262869|The spatial property of a body; where it is or the way in which it is situated.|NCI|N|
C1263023|The presence of abnormally large testes.|HPO|N|
C1263724|A disease that has its basis in the disruption of sulfur compound metabolic process.|MONDO|N|
C1263739|An inherited disorder that affects the metabolism of any acidic compound containing carbon in a covalent linkage.|NCI|N|
C1263744|A term that refers to glomerular damage resulting in hematuria, proteinuria, and azotemia. The histopathologic changes include rapidly progressive glomerulonephritis and membranoproliferative glomerulonephritis.|NCI|N|
C1263762|An adenocarcinoma that arises from the endocervix. It is the most common type of endocervical adenocarcinoma. The neoplastic epithelium shows a pseudostratified architecture and the malignant cells have enlarged, elongated, and hyperchromatic nuclei.|MONDO|N|
C1263777|A benign or malignant neoplasm that affects the uterine corpus. Representative examples of benign neoplasms include leiomyoma, adenomyoma, endometrial stromal nodule, and endometrial polyp. Representative examples of malignant neoplasms include endometrial carcinoma, adenosarcoma, carcinosarcoma, and leiomyosarcoma.|NCI|N|
C1263787|A benign, borderline, or malignant neoplasm that affects the broad ligament.|NCI|N|
C1263793|A neoplasm involving a clitoris.|MONDO|N|
C1263836|An infectious disorder that occurs during the neonatal period. Representative examples include streptococcal infection, E.coli infection, and bacterial meningitis.|NCI|N|
C1263839|A disease of mental health that occur during a child's developmental period between birth and age 18 resulting in retarding of the child's psychological or physical development.|MONDO|N|
C1263846|Attention-deficit/hyperactivity disorder (ADHD) is a behavioral disorder that typically begins in childhood and is characterized by a short attention span (inattention), an inability to be calm and stay still (hyperactivity), and poor impulse control (impulsivity). Some people with ADHD have problems with only inattention or with hyperactivity and impulsivity, but most have problems related to all three features.\n\nIn people with ADHD, the characteristic behaviors are frequent and severe enough to interfere with the activities of daily living such as school, work, and relationships with others. Because of an inability to stay focused on tasks, people with inattention may be easily distracted, forgetful, avoid tasks that require sustained attention, have difficulty organizing tasks, or frequently lose items.\n\nIn most affected individuals, ADHD continues throughout life, but in about one-third of individuals, signs and symptoms of ADHD go away by adulthood.\n\nHyperactivity is usually shown by frequent movement. Individuals with this feature often fidget or tap their foot when seated, leave their seat when it is inappropriate to do so (such as in the classroom), or talk a lot and interrupt others.\n\nImpulsivity can result in hasty actions without thought for the consequences. Individuals with poor impulse control may have difficulty waiting for their turn, deferring to others, or considering their actions before acting.\n\nMore than two-thirds of all individuals with ADHD have additional conditions, including insomnia, mood or anxiety disorders, learning disorders, or substance use disorders. Affected individuals may also have autism spectrum disorder, which is characterized by impaired communication and social interaction, or Tourette syndrome, which is a disorder characterized by repetitive and involuntary movements or noises called tics.|MedlinePlus Genetics|N|
C1263847|A disease or disorder that involves the cerebral cortex.|MONDO|N|
C1263857|An abnormality characterized by disruption of the normal functioning of peripheral axons.|HPO|N|
C1263858|Merosin-deficient congenital muscular dystrophy is an autosomal recessive form of muscular dystrophy characterized by muscle weakness apparent at birth or in the first 6 months of life. Patients show hypotonia, poor suck and cry, and delayed motor development; most never achieve independent ambulation. Most patients also have periventricular white matter abnormalities on brain imaging, but mental retardation and/or seizures occur only rarely (summary by Xiong et al., 2015).|OMIM|N|
C1263882|A meningioma that affects the cerebellopontine angle.|NCI|N|
C1263885|A primary or metastatic neoplasm that affects the cerebral hemispheres.|NCI|N|
C1263886|A neoplasm involving a frontal lobe.|MONDO|N|
C1263887|A neoplasm (disease) that involves the temporal lobe.|MONDO|N|
C1263888|A neoplasm (disease) that involves the parietal lobe.|MONDO|N|
C1263889|A neoplasm involving a occipital lobe.|MONDO|N|
C1263892|A neoplasm involving a cauda equina.|MONDO|N|
C1263895|A benign or malignant neoplasm involving the oculomotor nerve.|NCI|N|
C1263896|A benign or malignant neoplasm affecting the trochlear nerve (IVth cranial nerve).|NCI|N|
C1263897|A benign or malignant neoplasm affecting the trigeminal or fifth cranial nerve. Clinical features may include facial pain, sensory loss, and weakness of jaw closure.|NCI|N|
C1263898|A neoplasm involving a abducens nerve.|MONDO|N|
C1263899|A neoplasm involving a facial nerve.|MONDO|N|
C1263900|A neoplasm involving a glossopharyngeal nerve.|MONDO|N|
C1263901|A benign or malignant neoplasm affecting the vagus nerve (tenth cranial nerve).|NCI|N|
C1263902|A neoplasm involving a accessory XI nerve spinal component.|MONDO|N|
C1263903|A neoplasm involving a hypoglossal nerve.|MONDO|N|
C1263960|A state of unconsciousness as a complication of diabetes mellitus. It occurs in cases of extreme HYPERGLYCEMIA or extreme HYPOGLYCEMIA as a complication of INSULIN therapy.|MSH|N|
C1263992|Blue skin coloration due to elevated blood levels of methemoglobin. The degree of cyanosis is directly correlated to the concentration of methemoglobin in the blood. As methemoglobin is not suitable for carrying oxygen, hypoxemia becomes a serious sequela.|NCI|N|
C1263995|An instance of hemoglobinopathy that is acquired during the lifetime of the individual.|MONDO|N|
C1264008|Cold agglutinin disease is a type of autoimmune hemolytic anemia (see this term) defined by the presence of cold autoantibodies (autoantibodies which are active at temperatures below 30°C).|ORDO|N|
C1264039|Von Willebrand disease (VWD), a congenital bleeding disorder caused by deficient or defective plasma von Willebrand factor (VWF), may only become apparent on hemostatic challenge, and bleeding history may become more apparent with increasing age. Recent guidelines on VWD have recommended taking a VWF level of 30 or 40 IU/dL as a cutoff for those diagnosed with the disorder. Individuals with VWF levels greater than 30 IU/dL and lower than 50 IU/dL can be described as having a risk factor for bleeding. This change in guidelines significantly alters the proportion of individuals with each disease type. Type 1 VWD (~30% of VWD) typically manifests as mild mucocutaneous bleeding. Type 2 VWD accounts for approximately 60% of VWD. Type 2 subtypes include: Type 2A, which usually manifests as mild-to-moderate mucocutaneous bleeding; Type 2B, which typically manifests as mild-to-moderate mucocutaneous bleeding that can include thrombocytopenia that worsens in certain circumstances; Type 2M, which typically manifests as mild-moderate mucocutaneous bleeding; Type 2N, which can manifest as excessive bleeding with surgery and mimics mild hemophilia A. Type 3 VWD (<10% of VWD) manifests with severe mucocutaneous and musculoskeletal bleeding.|GeneReviews|N|
C1264040|Von Willebrand disease (VWD), a congenital bleeding disorder caused by deficient or defective plasma von Willebrand factor (VWF), may only become apparent on hemostatic challenge, and bleeding history may become more apparent with increasing age. Recent guidelines on VWD have recommended taking a VWF level of 30 or 40 IU/dL as a cutoff for those diagnosed with the disorder. Individuals with VWF levels greater than 30 IU/dL and lower than 50 IU/dL can be described as having a risk factor for bleeding. This change in guidelines significantly alters the proportion of individuals with each disease type. Type 1 VWD (~30% of VWD) typically manifests as mild mucocutaneous bleeding. Type 2 VWD accounts for approximately 60% of VWD. Type 2 subtypes include: Type 2A, which usually manifests as mild-to-moderate mucocutaneous bleeding; Type 2B, which typically manifests as mild-to-moderate mucocutaneous bleeding that can include thrombocytopenia that worsens in certain circumstances; Type 2M, which typically manifests as mild-moderate mucocutaneous bleeding; Type 2N, which can manifest as excessive bleeding with surgery and mimics mild hemophilia A. Type 3 VWD (<10% of VWD) manifests with severe mucocutaneous and musculoskeletal bleeding.|GeneReviews|N|
C1264041|Von Willebrand disease (VWD), a congenital bleeding disorder caused by deficient or defective plasma von Willebrand factor (VWF), may only become apparent on hemostatic challenge, and bleeding history may become more apparent with increasing age. Recent guidelines on VWD have recommended taking a VWF level of 30 or 40 IU/dL as a cutoff for those diagnosed with the disorder. Individuals with VWF levels greater than 30 IU/dL and lower than 50 IU/dL can be described as having a risk factor for bleeding. This change in guidelines significantly alters the proportion of individuals with each disease type. Type 1 VWD (~30% of VWD) typically manifests as mild mucocutaneous bleeding. Type 2 VWD accounts for approximately 60% of VWD. Type 2 subtypes include: Type 2A, which usually manifests as mild-to-moderate mucocutaneous bleeding; Type 2B, which typically manifests as mild-to-moderate mucocutaneous bleeding that can include thrombocytopenia that worsens in certain circumstances; Type 2M, which typically manifests as mild-moderate mucocutaneous bleeding; Type 2N, which can manifest as excessive bleeding with surgery and mimics mild hemophilia A. Type 3 VWD (<10% of VWD) manifests with severe mucocutaneous and musculoskeletal bleeding.|GeneReviews|N|
C1264056|Increased size of the lymph nodes that are located beneath the mandible (lower jaw).|HPO|N|
C1264195|A type of myelodysplastic syndrome characterized by less than 5% myeloblasts in the bone marrow, but with 15% or greater red cell precursors in the marrow being abnormal iron-stuffed cells called ringed sideroblasts.|HPO|N|
C1264517|Infection of a wound following trauma.|NCI|N|
C1264603|A disorder that follows infection but is distinct from the infection itself and its usual manifestations|SNOMEDCT_US|N|
C1264605|A post-infectious disorder that follows viral infection but is distinct from the viral infection itself and its usual manifestations.|MONDO|N|
C1264606|Infection which lasts for a long period with continuous display of clinical features. Persistent infection arises due to inability of host cells to clear primary infections completely. When persistent infections are cleared so that infection symptoms are under control they are often referred to as chronic infections. LATENT INFECTIONS are infections in which manifestation of clinical symptoms appear later.|MSH|N|
C1264691|An indication of the presence of an entity which, if present, is identified.|NCI|N|
C1265601|A single isolated mass.|NCI|N|
C1265736|An odontogenic cyst that is entirely or predominantly lined by orthokeratinized stratified squamous epithelium. (WHO 2017)|NCI|N|
C1265767|Expansion of aneurysm.|NCI|N|
C1265776|Telangiectases (small dilated blood vessels) with a diffuse localization.|HPO|N|
C1265804|Non-pitting edema occurs when excess fluid builds up in the body causing swelling that does not indent when pressure is applied. It usually occurs in the limbs, and often results from underlying medical conditions affecting lymphatic system function.|HPO|N|
C1265832|An inflammatory process characterized by the localized collection of polymorphonuclear neutrophils.|NCI|N|
C1265877|Deposition of mineral in normally non mineralized tissue|SNOMEDCT_US|N|
C1265926|A morphologic finding indicating the presence of localized cytologic atypia in a tissue sample.|NCI|N|
C1265933|Hyperplasia characterized by the presence of a diffuse cellular infiltrate.|NCI|N|
C1265968|Abnormal keratinization of the epidermal stratum coreum (horny layer) with increased keratin formation, preservation of the nuclei in the superficial cells, and absence of the stratum granulosum.|HPO|N|
C1265982|A benign, reactive lesion occurring status post instrumentation; histologic examination demonstrates a fascicular growth pattern of plump or elongated spindle cells infiltrating the wall of an organ without atypia or necrosis.|NCI|N|
C1265994|A purely morphologic term that describes a neoplasm in which all or the majority of the neoplastic cells have a clear cytoplasm, when examined under light microscopy, using the conventional staining method (H-E). This term does not provide any information about the nature of the neoplasm (benign or malignant), cell of origin (e.g. epithelial versus mesenchymal versus hematopoietic), or prognosis. Further examination using special stains and/or immunohistochemistry is required to appropriately classify this tumor.|NCI|N|
C1265996|An aggressive, high-grade, and poorly differentiated carcinoma with neuroendocrine differentiation. It is composed of malignant large cells.|NCI|N|
C1265997|A large cell lung carcinoma characterized by the presence of rhabdoid cells.|NCI|N|
C1265998|A malignant epithelial neoplasm composed of atypical cells with glassy cytoplasm.|NCI|N|
C1265999|A neoplasm that remains in the location of origin and does not pass through the basement membrane of the tissue of origin.|SNOMEDCT_US|N|
C1266001|A tiny localized pulmonary nodule characterized by neuroendocrine cell proliferation. It is usually discovered as an incidental finding during routine histologic examination of tissue sections or during radiologic examination.|NCI|N|
C1266002|A malignant epithelial neoplasm characterized by the absence of neoplastic small epithelial cells. A representative example is the lung non-small cell carcinoma.|NCI|N|
C1266003|A well differentiated squamous cell carcinoma characterized by a papillary, exophytic growth pattern, hyperkeratosis, and absence of invasion of adjacent tissues.|NCI|N|
C1266004|A keratinizing squamous cell carcinoma characterized by the presence of horn pearls. Representative examples include squamous cell carcinomas of the face presenting as a cutaneous horn.|NCI|N|
C1266005|A squamous cell carcinoma characterized by the presence of cells with hyperchromatic nuclei, scant amount of cytoplasm, and peripheral nuclear palisading.|NCI|N|
C1266006|A squamous cell carcinoma characterized by the presence of malignant cells with clear cytoplasm.|NCI|N|
C1266009|A rare malignant tumor arising from the outer hair sheath and infundibulum on the face. It is considered the malignant counterpart of tricholemmoma. Complete surgical excision is required.|NCI|N|
C1266010|A papillary urothelial neoplasm that arises from the urinary bladder. The papillary structures exhibit minimal architectural distortion and minimal atypia. Mitoses are infrequent. Patients are at an increased risk of developing new papillary lesions. Occasionally, the new lesions are urothelial carcinomas.|NCI|N|
C1266011|A transitional cell carcinoma characterized by a papillary growth pattern and lack of stromal invasion.|NCI|N|
C1266012|A transitional cell carcinoma characterized by a micropapillary growth pattern. Typical example is the micropapillary variant of infiltrating bladder urothelial carcinoma.|NCI|N|
C1266015|A neuroendocrine tumor arising from delta cells which produce somatostatin. It displays vascular invasion and metastasizes to other anatomic sites.|NCI|N|
C1266016|An endocrine neoplasm producing glucagon.|NCI|N|
C1266017|A glucagon-producing malignant endocrine neoplasm. It displays vascular invasion and metastasizes to other anatomic sites.|NCI|N|
C1266018|An uncommon type of hepatocelluar carcinoma, morphologically characterized by significant fibrosis around the sinusoid-like spaces and atrophy of the tumor trabeculae.|NCI|N|
C1266019|A morphologic variant of hepatocellular carcinoma characterized by the presence of malignant spindle cells or atypical giant cells.|NCI|N|
C1266020|A morphologic variant of hepatocellular carcinoma characterized by the presence of clear cells.|NCI|N|
C1266023|A tubular type adenoma of the breast in which, during pregnancy and lactation, the epithelial cells show extensive secretory changes.|NCI|N|
C1266024|An adenoma of the gastrointestinal tract mucosa which grossly and morphologically does not appear as an elevated or polypoid lesion.|NCI|N|
C1266025|An adenoma that arises from the large intestine and the appendix. It is characterized by prominent serration of the glands.|NCI|N|
C1266026|An adenocarcinoma of the stomach arising from the parietal cells. It is characterized by the presence of malignant cells with eosinophilic, finely granular cytoplasm.|NCI|N|
C1266027|An anal adenocarcinoma arising from the epithelium of the anal glands. The overlying anal mucosa does not show evidence of neoplastic changes.|NCI|N|
C1266032|A carcinoid tumor characterized by a high mitotic rate, often associated with the presence of necrosis and nuclear pleomorphism.|NCI|N|
C1266034|A morphologic variant of minimally invasive lung adenocarcinoma characterized by the presence of Clara cells and/or type II cells.|NCI|N|
C1266035|A morphologic variant of minimally invasive lung adenocarcinoma characterized by tall columnar cells and mucin production.|NCI|N|
C1266036|A morphologic variant of minimally invasive lung adenocarcinoma characterized by the presence of Clara cells and/or type II cells, tall columnar cells, and mucin production.|NCI|N|
C1266038|Multifocal neoplastic proliferations of the glandular epithelium displaying a papillary pattern.|NCI|N|
C1266039|An epithelial neoplasm with low malignant potential affecting the ovary. It is characterized by the presence of atypical glands and/or cystic spaces lined with clear or hobnail cells.|NCI|N|
C1266042|Chromophobe renal cell carcinoma is a rare subtype of renal cell carcinoma, originating from the intercalating cells of the collecting ducts and macroscopically manifesting as a well-circumscribed, highly lobulated, solid tumor that is usually diagnosed at an early stage. It is frequently asymptomatic, or may present with nonspecific symptoms, such as weight loss, fever or fatigue. The classic presentation observed in renal tumors (hematuria, flank pain and palpable mass) is occasionally observed and usually indicates an advanced stage of the disease. It is most frequently sporadic however, several familial cases, associated with Birt-Hogg Dubé syndrome, have been described.|ORDO|N|
C1266043|A high grade carcinoma of the kidney. It is not a distinct clinicopathological entity and includes a diverse group of renal cell carcinomas which have been transformed from a lower to a higher grade.|NCI|N|
C1266044|Collecting duct carcinoma is a rare, aggressive subtype of renal cell carcinoma, which originates from the epithelium of the distal collecting ducts, and usually manifests with hematuria, flank pain, palpable abdominal mass or nonspecific symptoms, such as fatigue, weight loss or fever. Patients are often asymptomatic for long periods of time and therefore, disease is often locally advanced or metastatic at the time of diagnosis. In cases with metastatic spread, bone pain, cough, dyspnea, pneumonia or neurological compromise may be associated.|ORDO|N|
C1266045|A benign, well-circumscribed renal cortical neoplasm affecting females more often than males. Polycythemia has been reported in twelve-percent of patients.|NCI|N|
C1266046|An encapsulated or well-circumscribed thyroid gland tumor composed of well-differentiated follicular cells with well-developed or partially developed nuclear features of papillary thyroid carcinoma and with questionable capsular or vascular invasion. This is a tumor indeterminate between follicular adenoma and follicular carcinoma. Tumors in which vascular invasion has been excluded by all means are called non-invasive follicular thyroid neoplasms with papillary-like nuclear features. (WHO)|NCI|N|
C1266050|A follicular-derived thyroid gland carcinoma that is histologically poorly differentiated and has high-grade features.|NCI|N|
C1266057|An endometrioid adenocarcinoma arising from the endometrium. Morphologically it is characterized by the presence of malignant glandular cells containing glycogen vacuoles which are usually subnuclear and reminiscent of early secretory endometrium.|NCI|N|
C1266058|An endometrioid adenocarcinoma arising from the endometrium, in which ciliated cells line the majority of the malignant glands.|NCI|N|
C1266059|A cervical adenocarcinoma in which 0-50% of malignant cells contain intracytoplasmic mucin. It is the most common subtype of cervical adenocarcinoma and represents 75% of all invasive cervical adenocarcinomas. The neoplastic epithelium shows a pseudostratified architecture and the malignant cells have enlarged, elongated, and hyperchromatic nuclei. Historically, usual-type cervical adenocarcinomas were termed ""endocervical-type"".|NCI|N|
C1266060|Eccrine syringofibroadenoma (ESFA) is a benign adnexal tumor arising most often on the extremities of elderly individuals characterized by anastomosing cords of cuboidal epithelial cells surrounded by a fibrovascular stroma containing plasma cells and ductal structures. ESFA stains positively with epithelial membrane antigen (EMA) and carcinoembryonic antigen (CEA).|HPO|N|
C1266063|A very rare, aggressive carcinoma of the sweat glands arising from malignant transformation of a long standing spiradenoma. It usually grows in the upper extremities, lower extremities, trunk, and head and neck. It has the tendency to recur and metastasize most often to the lymph nodes, bones, and lungs.|NCI|N|
C1266064|An eccrine sweat gland adenoma with aggressive local growth. Most cases present as nodular lesions on the digits. It is characterized by the presence of tubular and ductal structures with areas of papillary projections into cystic lumina.|NCI|N|
C1266065|A carcinoma with eccrine differentiation arising from the sweat glands. It may arise de novo or as a malignant transformation of a pre-existing poroma. It usually grows in the legs, buttocks, feet, and trunk and usually presents as an ulcerative plaque. It is characterized by the presence of intraepidermal and dermal nests of malignant epithelial cells. It may recur after excision and metastasize to the lymph nodes and less frequently to distal anatomic sites.|NCI|N|
C1266075|A multicystic tumor arising in the inferior interatrial septum in the region of the atrioventricular node. The vast majority of patients present with complete heart block and a minority with partial heart block. Sudden death is reported in approximately 10% of the cases. It is a morphologically benign tumor composed of cuboidal, transitional, or squamoid cells. The cells may also show sebaceous differentiation and originate from the endoderm.|NCI|N|
C1266078|A non-invasive malignant cystic epithelial neoplasm arising from the exocrine pancreas. It occurs almost exclusively in women. Small tumors are usually found incidentally. Larger tumors usually produce symptoms related to compression of the adjacent structures. It is characterized by the presence of columnar, mucin-producing epithelial cells which often form papillary projections with irregular branching and budding. There is cellular stratification, severe dysplasia, and high mitotic activity present. Complete surgical removal is usually associated with an excellent prognosis.|NCI|N|
C1266087|A cystic adenocarcinoma characterized by the presence of relatively uniform neoplastic cells which produce pancreatic enzymes and are arranged in acinar patterns. Signs and symptoms include abdominal pain, weight loss, nausea, and diarrhea. It usually has an aggressive clinical course.|NCI|N|
C1266088|An invasive adenocarcinoma characterized by the presence of focal or extensive neuroendocrine differentiation.|NCI|N|
C1266089|A general term used to describe carcinomas arising from epithelial cells that have been transformed into another cells type (metaplastic epithelial cells). A representative example is the adenocarcinoma arising in Barrett esophagus. This term is also used to describe carcinomas in which the malignant epithelial cells show differentiation towards another cell type. A representative example of the latter is the metaplastic breast carcinoma in which the malignant glandular cells show squamous, spindle cell, or chondroid/osseous differentiation.|NCI|N|
C1266090|An adenocarcinoma with morphologic characteristics similar to hepatocellular carcinoma, arising from an anatomic site other than the liver.|NCI|N|
C1266091|A thymic epithelial neoplasm characterized by the presence of spindle and/or oval neoplastic epithelial cells. Lymphocytic infiltration is minimal or absent. It may be associated with myasthenia gravis or pure red cell aplasia. The majority of cases occur in the anterior mediastinum as Masaoka stage I tumors. Approximately 20% of the cases occur as stage II or stage III tumors. Type A thymoma generally behaves as a benign tumor and the overall survival is reported to be 100% at 5 and 10 years.|NCI|N|
C1266092|A thymic epithelial neoplasm characterized by the presence of a lymphocyte-poor component similar to that seen in type A thymoma and a lymphocyte-rich component which contains neoplastic small polygonal epithelial cells. It may be associated with myasthenia gravis and pure red cell aplasia. The majority of cases occur in the anterior mediastinum as Masaoka stage I tumors. A minority of the cases occur as stage II or stage III tumors. The overall survival is reported to be 80-100% at 5 and 10 years.|NCI|N|
C1266093|A type AB thymoma which is characterized by an aggressive clinical course (capsular invasion, infiltration of the surrounding tissues) and can metastasize.|NCI|N|
C1266094|A thymic epithelial neoplasm characterized by the presence of expanded areas which resemble the normal thymic cortex. The neoplastic epithelial cells are small and scant and there is a dense T-lymphocytic component present. Areas of medullary differentiation with or without Hassall''s corpuscles are also present. It may be associated with myasthenia gravis, pure red cell aplasia, and hypogammaglobulinemia. It has a low grade malignant potential. The majority of cases occur in the anterior mediastinum as Masaoka stage I tumors. A minority of the cases occur as stage II tumors.|NCI|N|
C1266095|A thymic epithelial neoplasm characterized by the presence of neoplastic large, polygonal epithelial cells with large vesicular nuclei and prominent nucleoli. The neoplastic cells are arranged around perivascular spaces and along septa. Immature T-lymphocytes are also present. It may be associated with myasthenia gravis, pure red cell aplasia, and hypogammaglobulinemia. It is a tumor of moderate malignancy. The majority of cases occur in the anterior mediastinum as Masaoka stage I, stage II, or stage III tumors. Metastatic, stage IV tumors occur less frequently.|NCI|N|
C1266096|A type B2 thymoma which is characterized by an aggressive clinical course (capsular invasion, infiltration of the surrounding tissues) and can metastasize.|NCI|N|
C1266098|A benign, well-circumscribed tumor of the neck occurring in adults. It is characterized by the presence of spindle cells, epithelial islands, and adipose tissue. There is no evidence of thymic origin or differentiation, despite the use of the term thymoma in the literature.|NCI|N|
C1266099|A rare, slow growing malignant tumor of the thyroid gland arising from intrathyroidal thymic tissue. It is characterized by a lobulated architectural pattern and the presence of a biphasic cellular population composed of spindle epithelial cells and glandular cells. A small number of cases are composed exclusively of spindle epithelial cells or glandular cells.|NCI|N|
C1266101|Thymic epithelial neoplasms (TEN) are rare malignancies arising from the epithelium of the thymic gland. They comprise three sub-types: thymoma, thymic carcinoma, and thymic neuroendocrine carcinoma (see these terms).|ORDO|N|
C1266102|A sex cord-stromal tumor of the testis in which the neoplastic cells do not show specific differentiation.|NCI|N|
C1266103|A sex cord-stromal tumor of the testis which may contain any combination of cell types, for example Sertoli cells, Leydig cells, and granulosa cells. Symptoms include testicular swelling and gynecomastia.|NCI|N|
C1266106|A Sertoli-Leydig cell tumor characterized by the presence of spaces that resemble rete testis (retiform elements). These spaces form anastomosing patterns and comprise at least ten percent but less than ninety percent of the tumor. When the retiform elements comprise ninety percent or more of the tumor, the term retiform Sertoli-Leydig cell tumor is used. A minority of patients may have an aggressive clinical course.|NCI|N|
C1266107|An ovarian Sertoli-Leydig cell tumor of intermediate differentiation, characterized by the presence of a heterologous component, usually consisting of cartilage, skeletal muscle, or rhabdomyosarcoma.|NCI|N|
C1266109|A testicular Sertoli cell tumor characterized by the presence of large polygonal cells with eosinophilic cytoplasm in a myxoid and hyalinized stroma. Calcifications may be present in the stroma. Malignant behavior is uncommon.|NCI|N|
C1266111|A very rare morphologic variant of glomus tumor with a size greater than 2 cm. The tumor arises in subfascial or visceral tissues. It is characterized by the presence of atypical mitotic figures, or marked nuclear atypia, or the combination of both. It has an aggressive clinical course.|NCI|N|
C1266112|A diffuse or multifocal proliferation of uniform nevoid polygonal cells in the leptomeninges. Cells may spread into the Virchow-Robin spaces without frank invasion of the brain. Diffuse melanocytosis carries a poor prognosis even in the absence of histologic malignancy. (WHO)|NCI|N|
C1266113|A rare nervous system tumor characterized by a benign pigmented space-occupying lesion derived from leptomeningeal melanocytes. Symptoms typically show insidious onset and are related to the mass effect on adjacent tissues. Depending on the location of the tumor, they include focal neurological deficits, increased intracranial pressure, seizures, and spinal cord compression, among others. Although the tumor may behave aggressively, prognosis is good after complete surgical resection.|ORDO|N|
C1266114|A meningeal melanoma with secondary diffuse meningeal spread. (WHO)|NCI|N|
C1266115|An acral lentiginous melanoma affecting mucosal surfaces.|NCI|N|
C1266117|A benign proliferation of epithelioid or spindled melanocytes usually in the upper or mid dermis in a background of congenital melanocytic nevus. The congenital melanocytic nevus is usually of the deep type, involving the dermis and extending into the subcutaneous tissue. It presents as a dark plaque or nodule above a giant congenital melanocytic nevus.|NCI|N|
C1266118|A morphologic variant of fibroma characterized by increased cellularity.|NCI|N|
C1266119|A rare spindle cell neoplasm that may be benign or malignant and that most frequently arises from the pleura and peritoneum and rarely from other sites such as head and neck, liver and skeletal muscle. SFT may be clinically asymptomatic or may present with enlarging mass, compressive effects depending on the site involved and rarely with paraneoplastic manifestations (osteoarthropathy or hypoglycemia).|ORDO|N|
C1266120|A malignant neoplasm of probable fibroblastic derivation. It is characterized by the presence of atypical round to spindle-shaped cells, increased cellularity, necrotic change and high mitotic activity.|NCI|N|
C1266123|A benign myofibroblastic neoplasm, usually arising in the pelviperineal region. It is characterized by the presence of neoplastic spindle to round cells, dilated thin walled vessels, and stromal edema. Most patients present with painless circumscribed masses.|NCI|N|
C1266124|A rare lung neoplasm that occurs in the intrauterine and perinatal period. It is characterized by the proliferation of spindle cells in an interstitial, peribronchial pattern. Surgical resection of the involved lung parenchyma is the treatment of choice.|NCI|N|
C1266125|A rare, well-circumscribed, pseudo-encapsulated benign fibrous histiocytoma that arises entirely within the subcutaneous tissue or deep soft tissue. It usually affects the extremities or the head and neck region. It recurs locally in a minority of cases.|NCI|N|
C1266126|An intermediate fibrohistiocytic neoplasm of the skin that usually affects children and young adults. It is a multinodular, poorly circumscribed tumor characterized by the presence of multinucleated giant cells, mononuclear histiocyte-like cells, and spindle fibroblast-like cells arranged in a plexiform pattern.|NCI|N|
C1266127|A rare soft tissue tumor characterized by a slow-growing, usually painless, subcutaneous nodule, predominantly located in the extremities, less frequently the trunk or head and neck region. Histopathologically, the lesion is well-circumscribed, lobulated, and composed of epitheloid, ovoid, or spindle cells arranged in a nodular and often syncytial pattern, with pseudoangiomatoid spaces and a peripheral fibrous pseudocapsule with a prominent lymphoplasmacytic cuff. The tumor is most common in the first two decades of life and usually follows an indolent course, although local recurrence may occur, while metastasis is rare.|ORDO|N|
C1266128|A rare soft tissue tumor of uncertain lineage characterized by the presence of neoplastic spindle to round cells forming cords in a fibromyxoid stroma. The lesions are associated with the formation of metaplastic bone. Most patients present with painless subcutaneous masses. Recurrences have been reported in a minority of patients.|NCI|N|
C1266129|A locally aggressive mesenchymal neoplasm composed either entirely or partly of an adipocytic proliferation showing at least focal nuclear atypia in both adipocytes and stromal cells. ""Atypical lipomatous tumor"" and ""well-differentiated liposarcoma"" are synonyms describing lesions that are morphologically and genetically identical. Amplification of MDM2 and/or CDK4 is almost always present. (WHO 2020)|NCI|N|
C1266130|A liposarcoma characterized by the presence of a fibroblastic component.|NCI|N|
C1266131|A rare benign adipose tissue neoplasm characterized by nests and cord of abundant univacuolated and multivacuolated lipoblasts and mature adipocytes in a prominent myxoid to hyalinized chondroid matrix admix. It predominantly affects females.|NCI|N|
C1266133|A rare benign skeletal muscle neoplasm arising from the female genital tract. It is characterized by the presence of small nucleated rhabdomyoblasts within a fibrous and myxoid stroma.|NCI|N|
C1266134|An uncommon variant of rhabdomyosarcoma characterized by the presence of whorls of spindle cells forming a storiform pattern. In children it usually arises in the paratesticular region. In adults it usually arises from the deep soft tissues in the head and neck.|NCI|N|
C1266136|A gastrointestinal stromal tumor that is characterized by a maximum diameter equal or less than 5 cm (gastric localization), or equal or less than 2 cm (intestinal localization) and no more than 5 mitotic figures per 50 high power fields.|NCI|N|
C1266138|A localized, well-circumscribed multilocular tumor lined by hobnail epithelium. It was previously classified along with pediatric cystic nephroma, as a separate entity from mixed epithelial and stromal tumors. Now it is classified within the spectrum of the mixed epithelial and stromal tumor family. Most of these tumors are benign. (WHO 2016).|NCI|N|
C1266139|A variant of Wilms tumor of the kidney characterized by the presence of cystic spaces separated by septa. The septa contain immature epithelial cells, immature stromal cells, and blastema cells. Surgical resection is usually curative.|NCI|N|
C1266141|A benign, solitary, and partially cystic neoplasm arising from the kidney. It occurs in children and adults. Presenting symptoms include hematuria and polycythemia. It is characterized by the presence of epithelial nodules embedded in a stroma containing spindle cells.|NCI|N|
C1266142|A disordered proliferation of mature tissues that are native to the kidneys.|HPO|N|
C1266144|DICER1 tumor predisposition (DICER1) is characterized by an increased risk for pleuropulmonary blastoma (PPB), pulmonary cysts, thyroid gland neoplasia (multinodular goiter, adenomas, and/or thyroid cancer), ovarian tumors (Sertoli-Leydig cell tumor, gynandroblastoma, and sarcoma), and cystic nephroma. Less commonly observed tumors include ciliary body medulloepithelioma, nasal chondromesenchymal hamartoma, embryonal rhabdomyosarcoma, pituitary blastoma, pineoblastoma, central nervous system (CNS) sarcoma, other CNS tumors, and presacral malignant teratoid tumor. The majority of tumors occur in individuals younger than age 40 years. PPB typically presents in infants and children younger than age six years. Ovarian sex cord-stromal tumors are most often diagnosed before age 40 years. Cystic nephroma generally presents in young children but has also been reported in adolescents. Additional clinical features that may be seen include macrocephaly, ocular abnormalities, structural anomalies of the kidney and collecting system, and dental anomalies (bulbous crowns).|GeneReviews|N|
C1266145|A rare, congenital or perinatal, aggressive and potentially low-grade malignant basaloid neoplasm that occurs in the major salivary glands. It typically presents as a mass over the angle of the mandible. Most involve the parotid gland.|NCI|N|
C1266146|A benign neoplasm characterized by the proliferation of cells with myoepithelial differentiation around spaces which are lined by epithelial cells.|NCI|N|
C1266154|A low malignant potential adenofibroma of the ovary It is characterized by an atypical epithelial hyperplasia. The epithelial cells contain intracytoplasmic mucin. There is no evidence of stromal destructive invasion.|NCI|N|
C1266156|A mesothelial neoplasm that arises from the peritoneum and rarely the pleura. It is characterized by the presence of multiple cysts lined by flattened or cuboidal mesothelial cells. There is no evidence of significant cytologic atypia or increased mitotic activity. It may reoccur. Rare cases of transformation to malignant mesothelioma have been reported.|NCI|N|
C1266157|A non-invasive lesion of the testis, characterized by the presence of malignant large germ cells with abundant cytoplasm in the seminiferous tubules. It may be associated with undescended or atrophic testis and infertility. The vast majority of cases progress to invasive germ cell tumors.|NCI|N|
C1266158|A term that refers to teratoma, embryonal carcinoma, yolk sac tumor, choriocarcinoma, or mixed forms of these tumors.|NCI|N|
C1266159|A rare gestational trophoblastic neoplasmcharacterized histologically by invasion of the myometrium and/or cervix uteri by regular epithelioid cells of chorion laeve type intermediate trophoblasts which clusters in a hyaline stroma. The disease generally occurs several years after pregnancy and indicative signs are irregular metrorrhagia and moderate increases in chorionic gonadotropin levels.|ORDO|N|
C1266163|A low grade osteosarcoma arising from the medullary portion of the bone. It affects the long bones and is characterized by the presence of fibroblastic stroma and osteoid production. Pain and swelling are the usual sign and symptom. The prognosis is more favorable than conventional osteosarcoma.|NCI|N|
C1266165|A usually aggressive high grade malignant bone-forming mesenchymal neoplasm arising from the surface of the bone.|NCI|N|
C1266166|A high grade malignant bone-forming mesenchymal neoplasm producing osteoid. The tumor arises from the medullary portion of the bone. It affects the long bones and most commonly, the distal femur, proximal tibia, and proximal humerus. Pain with or without a palpable mass is the most common clinical presentation. It usually has an aggressive growth and may metastasize through the hematogenous route. The lung is the most frequent site of metastasis.|NCI|N|
C1266167|A rare, usually low grade chondrosarcoma characterized by the presence of tumor cells with clear cytoplasm. It usually arises in the epiphyseal ends of long bones.|NCI|N|
C1266168|An uncommon malignant tumor arising from the tendon sheath. Morphologically, it is characterized by the presence of a cellular infiltrate reminiscent of a giant cell tumor with prominent malignant characteristics. Recurrent giant cell tumors with a sarcomatous dedifferentiation are included in this category as well.|NCI|N|
C1266173|A slow-growing malignant bone tumor arising from the remnants of the notochord and occurring in the base of the skull. The tumor is characterized by a lobulated growth pattern, myxoid stroma formation, and the presence of physaliphorous cells and cartilage.|NCI|N|
C1266174|A high-grade malignant bone tumor arising from the remnants of the notochord. It is characterized by a lobulated growth pattern, myxoid stroma formation, the presence of physaliphorous cells, and a sarcomatous component.|NCI|N|
C1266175|A rare, usually benign myoepithelial tumor characterized by the presence of epithelioid, often vacuolated neoplastic cells. Most patients present with painless swelling in the subcutaneous or subfascial soft tissues of the extremities.|NCI|N|
C1266176|A very rare type of choroid plexus tumour that in contrast to papilloma of the choroid plexus has an increased likelihood of progression to carcinoma and of recurrence. The disease displays brisk mitoses, nuclear pleomorphism, raised cellular density, obscurity of the papillary growth pattern and cell necrosis.|SNOMEDCT_US|N|
C1266177|Dysembryoplastic neuroepithelial tumor (DNT) is a benign glioneuronal neoplasm that most commonly occurs in children and young adults and may present with medically intractable, chronic seizures. Lesions vary in size from 10 to 25 mm, although occasionally larger tumors of up to 70 mm have been reported. Grossly, tumors appear as well-defined, solitary nodular masses or poorly demarcated lesions. On the cut section, most tumors are cortically located and may extend into the underlying subcortical white matter in larger tumors. Multi-nodular appearance or cystic changes are commonly found|HPO|N|
C1266178|An astrocytic tumor affecting young people. Morphologically, it is characterized by the presence of collagenous tissue surrounding neoplastic astrocytes. In some cases the collagen is produced by the tumor cells (desmoplastic astrocytoma), whereas in others it is produced by mesenchymal cells (mixed glioma/fibroma).|NCI|N|
C1266180|A medulloblastoma composed of large cells with prominent nucleoli and a larger amount of cytoplasm in contrast with the cells of the classic medulloblastoma.|NCI|N|
C1266184|An aggressive malignant embryonal neoplasm arising from the central nervous system. It is composed of cells with a large eccentric nucleus, prominent nucleolus, and abundant cytoplasm. Mutations of the SMARCB1 gene or very rarely SMARCA4 (BRG1) gene are present. The vast majority of cases occur in childhood. Symptoms include lethargy, vomiting, cranial nerve palsy, headache, and hemiplegia.|HPO|N|
C1266185|A retinoblastoma characterized by the absence of a distinct retinal mass and the presence of malignant cells diffusely infiltrating the retina. It is often confused with uveitis and endophthalmitis, resulting in delayed diagnosis of the malignancy.|NCI|N|
C1266186|An archaic term that refers to benign, non-progressive retinal lesions in patients with mutation of the RB1 gene.|NCI|N|
C1266188|Malignant peripheral nerve sheath tumor with perineurial differentiation is a rare soft tissue sarcoma composed predominantly of spindle-shaped neoplastic cells showing perineurial differentiation and displaying abundant cellular pleomorphism or anaplasia, frequent mitoses, tumor necrosis and high metastatic potential. It often presents as a soft, painless, solid mass in subcutaneous tissues of the trunk or limbs, but tumors have also been described in the facial area, mediastinum, retroperitoneum, pancreas, paravertebral column and the pelvic soft tissues. Frequent local recurrence and distant metastatic spread has been reported.|ORDO|N|
C1266194|A subtype of classic Hodgkin lymphoma with scattered Hodgkin and Reed-Sternberg cells and a nodular or less often diffuse cellular background consisting of small lymphocytes and with an absence of neutrophils and eosinophils. (WHO, 2008)|NCI|N|
C1267087|The accessory navicular bone has been classified into 3 types: type 1 is a small sesamoid bone embedded within the distal portion of the posterior tibial tendon; type 2 is an accessory bone united to the navicular by a 1- to 3-mm thick synchondrosis; and type 3 is a fused form of type 2. Types 1 and 2 comprise 70% of all cases and are usually involved when symptoms are reported (Ray and Goldberg, 1983).|OMIM|N|
C1268622|Susceptible to a decrease in normal frequency of defecation accompanied by difficult or incomplete passage of stool, which may compromise health.|NANDA-I|N|
C1268623|Susceptible to involuntary passage of urine occurring soon after a strong sensation or urgency to void, which may compromise health.|NANDA-I|N|
C1268624|Potential for an abnormal regulation of fluid volume balance resulting in more fluids than the body can get rid of or less fluids than the body can take in.|PNDS|N|
C1268625|Susceptible to deterioration of body systems as the result of prescribed or unavoidable musculoskeletal inactivity, which may compromise health.|NANDA-I|N|
C1268626|Potential for allergic reaction to products containing processed natural rubber latex.|PNDS|N|
C1268628|Susceptible to experiencing discomfort associated with a desire or need for more contact with others, which may compromise health.|NANDA-I|N|
C1268630|Susceptible to difficulty in fulfilling care responsibilities, expectations and/or behaviors for family or significant others, which may compromise health.|NANDA-I|N|
C1268631|Susceptible to an impaired ability to experience and integrate meaning and purpose in life through connectedness within self, literature, nature, and/or a power greater than oneself, which may compromise health.|NANDA-I|N|
C1268632|Susceptible to disruption in the circulation, sensation, and motion of an extremity, which may compromise health.|NANDA-I|N|
C1268633|Potential for damage to skin, soft tissue, joints, ligaments, bones, eyes, nerves and blood and lymph vessels as a result of the mechanism of compression or stretching that occurs while positioning the patient to expose the surgical site especially in patients identified at risk for perioperative pressure injury.|PNDS|N|
C1268634|Susceptible to delay of 25% or more in one or more of the areas of social or self-regulatory behavior, or in cognitive, language, gross, or fine motor skills, which may compromise health.|NANDA-I|N|
C1268636|Susceptible to disintegration in the pattern of modulation of the physiological and neurobehavioral systems of functioning, which may compromise health.|NANDA-I|N|
C1268637|Increased chance of destroying a limb or essential part of the body|CCC|N|
C1268639|Susceptible to sustained maladaptive response to a traumatic, overwhelming event, which may compromise health.|NANDA-I|N|
C1268640|Susceptible to physiological and/or psychosocial disturbance following transfer from one environment to another, which may compromise health.|NANDA-I|N|
C1268641|Susceptible to the lived experience of lack of control over a situation, including apperception that one''s actions do not significantly affect the outcome, which may compromise health.|NANDA-I|N|
C1268645|There are scattered areas of fibroglandular density, as defined by the visually estimated content of fibroglandular-density tissue within the breast, based on updated editions of the American College of Radiology''s Breast Imaging Reporting and Data System (BI-RADS).|NCI|N|
C1268646|A mammographic finding of heterogeneously dense breast composition, as defined by the visually estimated content of fibroglandular-density tissue within the breast, based on updated editions of the American College of Radiology''s Breast Imaging Reporting and Data System (BI-RADS).|NCI|N|
C1268647|A mammographic finding of extremely dense breast composition, as defined by the visually estimated content of fibroglandular-density tissue within the breast, based on updated editions of the American College of Radiology''s Breast Imaging Reporting and Data System (BI-RADS).|NCI|N|
C1268716|Architectural distortion is defined as an architectural disruption of the normal breast that does not have obvious mass opacities, which may be early signs of breast carcinoma.|HPO|N|
C1268739|Susceptible to developing a negative perception of self-worth in response to a current situation, which may compromise health.|NANDA-I|N|
C1268740|Potential for increased chance of falling that may cause physical harm, damage or loss.|PNDS|N|
C1268745|Increased chance of negative response to medicinal substance|CCC|N|
C1268759|A pattern of management of adaptive tasks by primary person (family member, significant other, or close friend) involved with the client''s health challenge, which can be strengthened.|NANDA-I|N|
C1268760|Readiness to improve the interactions and patterns of relating amongst members of the community.|SNOMEDCT_US|N|
C1268762|A pattern of experiencing and integrating meaning and purpose in life through connectedness with self, others, art, music, literature, nature, and/or a power greater than oneself, which can be strengthened.|NANDA-I|N|
C1268766|Change in or modification of the systolic or diastolic pressure|CCC|N|
C1268767|Cutting of the integument/skin|CCC|N|
C1268768|Disruption in tooth development/eruption pattern or structural integrity of individual teeth.|NANDA-I|N|
C1268935|Hereditary thrombotic thrombocytopenic purpura (TTP), also known as Upshaw-Schulman syndrome (USS), is a rare autosomal recessive thrombotic microangiopathy (TMA). Clinically, acute phases of TTP are defined by microangiopathic mechanical hemolytic anemia, severe thrombocytopenia, and visceral ischemia. Hereditary TTP makes up 5% of TTP cases and is caused mostly by biallelic mutation in the ADAMTS13 gene, or in very rare cases, by monoallelic ADAMTS13 mutation associated with a cluster of single-nucleotide polymorphisms (SNPs); most cases of all TTP (95%) are acquired via an autoimmune mechanism (see 188030). Hereditary TTP is more frequent among child-onset TTP compared with adult-onset TTP, and its clinical presentation is significantly different as a function of its age of onset. Child-onset TTP usually starts in the neonatal period with hematological features and severe jaundice. In contrast, almost all cases of adult-onset hereditary TTP are unmasked during the first pregnancy of a woman whose disease was silent during childhood (summary by Joly et al., 2018).|OMIM|N|
C1268936|Hemolytic uremic syndrome caused by gastrointestinal infection, usually with shiga toxin-producing enterobacteria.|NCI|N|
C1268964|A subtype of myelodysplastic syndrome which initially lacks findings appropriate for classification into any other myelodysplastic category. There are no specific morphologic findings. The diagnosis can be made in the following instances: 1. in cases of refractory cytopenia with unilineage dysplasia or refractory cytopenia with multilineage dysplasia but with 1% blasts in the peripheral blood; 2: in cases of myelodysplastic syndrome with unilineage dysplasia which are associated with pancytopenia; 3: in cases with persistent cytopenia (s) with 1% or fewer blasts in the blood and fewer than 5% in the bone marrow, unequivocal dysplasia in less than 10% of the cells in one or more myeloid lineages, and cytogenetic abnormalities considered as presumptive evidence of myelodysplastic syndrome. (WHO, 2008)|NCI|N|
C1269683|Depression (also known as major depression or major depressive disorder) is a psychiatric disorder that affects mood, behavior, and overall health. It causes prolonged feelings of sadness, emptiness, or hopelessness, and a loss of interest in activities that were once enjoyed. People with depression may also have changes in appetite (leading to overeating or not eating enough), changes in sleeping patterns (sleeping too much or not being able to sleep), loss of energy, and difficulty concentrating. Although depression is considered primarily a mental health disorder, it can also have physical features including headaches, other unexplained aches and pains, unusually slow or fast movements, and digestive problems. To be diagnosed with depression, an individual must have signs and symptoms nearly every day for at least 2 weeks. However, the features of this condition vary widely.\n\nDepression most commonly begins in late adolescence or early adulthood, although it can appear at any age. If untreated, episodes of depression can last for weeks, months, or years, and can go away and come back (recur). Affected individuals may have difficulty functioning in their daily lives, including at school or work. People with depression have a higher risk of substance abuse problems and dying by suicide than the general population.\n\nSeveral health conditions are closely related to depression or have depression as a characteristic feature. These include dysthymia (which has long-lasting signs and symptoms that are similar to, but not as severe as, those of depression), perinatal or postpartum depression (which occurs around or following the birth of a child), seasonal affective disorder (which is triggered by the changing of the seasons), bipolar disorder (which can include both "highs," or manic episodes, and depressive episodes), and generalized anxiety disorder. In people with schizoaffective disorder, depression or another mood disorder occurs together with features of schizophrenia (a brain disorder that affects a person's thinking, sense of self, and perceptions).|MedlinePlus Genetics|N|
C1269700|An abnormal enlargement of the renal calices, the system of ducts of the kidney that collect urine.|HPO|N|
C1269751|Down syndrome in which the extra (partial or total) copy of chromosome 21 genetic material is attached to another chromosome.|MONDO|N|
C1269955|The local spread of tumor cells of a malignant neoplasm through infiltration or destruction of adjacent tissue; for epithelial neoplasms, invasion signifies infiltration beneath the epithelial basement membrane.|NCI|N|
C1270169|Inflammatory process that involves the chorionic villi (villitis) of the placenta.|MONDO|N|
C1270206|A malignant neoplasm arising from mesothelial cells. It is characterized by the presence of a dense collagenous tissue and atypical neoplastic cells. Sarcomatoid features, collagenous necrosis, and infiltration of muscle and adipose tissue may be present. It occurs in the pleura and less commonly in the peritoneum.|NCI|N|
C1270972|Some forgetfulness can be a normal part of aging. However, some people have more memory problems than other people their age. This condition is called mild cognitive impairment, or MCI. People with MCI can take care of themselves and do their normal activities.CHAR(13) MCI memory problems may include:CHAR(13) 	-Losing things often. CHAR(13) 	-Forgetting to go to events and appointments. CHAR(13) 	-Having more trouble coming up with words than other people of the same age. CHAR(13)  Memory problems can also have other causes, including certain medicines and diseases that affect the blood vessels that supply the brain. Some of the problems brought on by these conditions can be managed or reversed.CHAR(13) Your health care provider can do thinking, memory, and language tests to see if you have MCI. You may also need to see a specialist for more tests. Because MCI may be an early sign of Alzheimer''s disease, it''s really important to see your health care provider every 6 to 12 months.CHAR(13) At this time, there is no proven drug treatment for MCI. Your health care provider can check to see if you have any changes in your memory or thinking skills over time.CHAR(13) NIH: National Institute on AgingCHAR(13)|MEDLINEPLUS|N|
C1271005|Having no anomalies or unexpected findings on visual inspection.|NCI|N|
C1271007|This is the original version, published in 1974. It has a maximum score of 14.|SNOMEDCT_US|N|
C1271100|Spasticity (velocity-dependent increase in tonic stretch reflexes with increased muscle tone and hyperexcitable tendon reflexes) in the muscles of the lower limbs, hips, and pelvis|HPO|N|
C1271101|Susceptible to unpredicted death of an infant.|NANDA-I|N|
C1271104|A test result that reports the diastolic and systolic pressure of the blood.|NCI|N|
C1271219|Ectopia pupillae is a congenital eye malformation in which the pupils are displaced from their normal central position.|OMIM|N|
C1271398|Ocular pigment dispersion syndrome is characterized by abnormal release of iris pigment, which then accumulates within the eye, including in the trabecular meshwork, through which fluid from the eye drains. Pigment deposition is believed to increase intraocular pressure by damaging trabecular meshwork cells and decreasing aqueous humor outflow (summary by van der Heide et al., 2021).|OMIM|N|
C1271402|Finding of a separation of the CILIARY BODY in the SCLERAL SPUR region, creating aqueous outflow from the ANTERIOR CHAMBER into suprachoroidal space between the CHOROID and the SCLERA. Persistent cyclodialysis clefts may be associated with OCULAR HYPOTENSION and OPTIC DISC EDEMA.|MSH|N|
C1271448|Clinical triad of uveitis, glaucoma, and hyphema (UGH), especially associated with the early anterior chamber intraocular lens (IOL). Glaucoma is believed to be caused by movement of the IOL against the iris causing release of inflammatory and red blood cell debris, which obstruct the trabecular meshwork. The haptic also may cause direct damage to the trabecular meshwork contributing to the glaucoma. Incidence of UGH is dependent on both surgical methodology applied in the cataract population and type of IOL used. UGH is particularly common if metal clip lenses have been used. Components of the condition may be reversed if the offending IOL is removed before permanent damage has occurred.|NCI|N|
C1271991|Death of a live newborn during the first 7 days of life.|NCI|N|
C1272076|Death of an infant after 28 days of age and before 1 year of age|SNOMEDCT_US|N|
C1272092|Impaired fasting glucose (IFG) is indicated by a fasting plasma glucose above normal but below the diabetic range. Levels between 110 mg/dl (6.1 mmol/l) to 125 mg/dl (6.9 mmol/l) are diagnostic of IFG.|HPO|N|
C1272241|A history of a first-degree relative that was diagnosed with cardiomyopathy.|NCI|N|
C1272352|Abnormally low concentration of vitamin D3 (cholecalciferol) in the blood.|NCI|N|
C1272516|A morphologic variant of glioblastoma characterized by the presence of a highly proliferative and monotonous population of malignant small glial cells.|NCI|N|
C1272620|Cutaneous lesion induced by minor, but constant mechanical trauma occurring typically on the lateral edges of the nasal root or on top of or behind the auricle.|SNOMEDCT_US|N|
C1272641|The blood pressure in the ARTERIES. It is commonly measured with a SPHYGMOMANOMETER on the upper arm which represents the arterial pressure in the BRACHIAL ARTERY.|MSH|N|
C1272677|A rare, usually benign tumor that arises from the kidney. It belongs to the spectrum of mixed epithelial and stromal tumor family. It usually affects females. It is characterized by the presence of a biphasic pattern with tubular and cystic structures in a spindle cell stroma. Patients usually present with flank pain and hematuria.|NCI|N|
C1272766|Follicular bronchiolitis is a polyclonal hyperplasia of bronchiolar associated lymphoid tissue characterized by the is characterized by the development of lymphoid follicles with germinal centers in walls of the small airways.|HPO|N|
C1273017|An adamantinoma arising from the tibia. The tibia is the site which is more frequently involved by adamantinoma (80-90% of cases).|NCI|N|
C1273070|Abnormal function of the left ventricule during left ventricular relaxation and filling.|HPO|N|
C1273107|A pattern of exchanging information and ideas with others, which can be strengthened.|NANDA-I|N|
C1273108|A pattern of family functioning to support the well-being of its members, which can be strengthened.|NANDA-I|N|
C1273114|A pattern of natural, periodic suspension of relative consciousness to provide rest and sustain a desired lifestyle, which can be strengthened.|NANDA-I|N|
C1273115|A pattern of perceptions or ideas about the self, which can be strengthened.|NANDA-I|N|
C1273518|A person worthy of responsibility or trust or one held accountable.|NCI|N|
C1273519|An area of real estate divided into multiple lots.|NCI|N|
C1273604|The most prevalent Gleason pattern in a prostate biopsy or prostatectomy specimen. The Gleason score is defined by adding the most prevalent (primary) and second most prevalent (secondary) patterns.|NCI|N|
C1273605|The second most prevalent Gleason pattern in a prostate biopsy or prostatectomy specimen. The Gleason score is defined by adding the most prevalent (primary) and second most prevalent (secondary) patterns.|NCI|N|
C1273607|The value of the sum of the primary and secondary Gleason scores (range 2-10). If three patterns are identified, it is the sum of the primary pattern score and the score of the least well-differentiated pattern.|NCI|N|
C1273608|Prostate carcinoma patterns occupying less than 5% of the tumor.|NCI|N|
C1273758|An obstruction of the pupil.|NCI|N|
C1274008|A disease caused by infection with Talaromyces marneffei.|MONDO|N|
C1274103|A rare paraneoplastic syndrome characterized by renal phosphate wasting and bone demineralization due to a phosphaturic mesenchymal tumor of the mixed connective tissue variant. It causes osteomalacia in adults with bone pain and pathological fractures, and rickets in children.|ORDO|N|
C1274167|A rare autoimmune bullous skin disease characterized by painful and pruritic vesiculopustular eruptions resulting from circulating IgA antibodies against keratinocyte cell surface components. The lesions are typically found at the periphery of erythematous annular plaques and favor intertriginous regions. Histologically and immunologically, IgA pemphigus can be subdivided into subcorneal pustular dermatosis and intraepidermal neutrophilic IgA dermatosis.|ORDO|N|
C1274179|Calcinosis cutis with abnormal calcium and phosphate metabolism and associated with HYPERCALCAEMIA and HYPERPHOSPHATAEMIA.|MSH|N|
C1274184|Artefactual skin disease with intentional deception.|SNOMEDCT_US|N|
C1274215|Autosomal recessive form of inherited ichthyosis.|MONDO|N|
C1274224|Inherited epidermolysis bullosa (EB) encompasses a number of disorders characterized by recurrent blister formation as the result of structural fragility within the skin and selected other tissues.|ORDO|N|
C1274225|An inheritable form of pseudoxanthoma elasticum (PXE), that causes calcium and other minerals to accumulate in the elastic fibers of the skin, eyes, and blood vessels, and less frequently in other areas such as the digestive tract. PXE may cause the following symptoms: growth of yellowish bumps on the skin of the neck, under the arms, or in the groin area; reduced vision; periodic weakness in the legs (claudication); or bleeding in the gastrointestinal tract, particularly the stomach. A clinical diagnosis of PXE can be made when an individual is found to have both the characteristic eye findings and yellow bumps on the skin. ABCC6 is the only gene known to be associated with this condition. Currently, there is no treatment for this condition, but affected individuals may benefit from routine visits to an eye doctor who specializes in retinal disorders, and by having regular physical examinationswith their primary physician.|MONDO|N|
C1274233|A broad classification of disorders that affect the cell-mediated aspect of the immune response. Circulating numbers of T lymphocytes are decreased or ineffective.|NCI|N|
C1274281|An uncommon benign lesion in the vulva. It manifests with multiple papular lesions which are purple in color. They are usually asymptomatic. Histologically, there is hyperkeratosis, papillomatosis, and dilated blood vessels in the papillary dermis.|NCI|N|
C1274297|Febrile ulceronecrotic Mucha-Habermann disease (FUMHD) is a rare and severe form of pityriasis lichenoides et varioliformis acuta (PLEVA). PLEVA is characterized by skin lesions that ulcerate, breakdown, form open sores, then form a red-brown crust. FUMHD often begins as PLEVA, but then rapidly and suddenly progresses to large, destructive ulcers. There may be fever and extensive, painful loss of skin tissue as well as secondary infection of the ulcers. Diagnosis of FUMHD is confirmed by biopsy of skin lesions. FUMHD occurs more frequently in children, peaking at age 5 to 10. Males tend to be affected more often than females. While some cases of FUMHD have resolved without therapy, others have resulted in death. Early diagnosis and prompt treatment may help to reduce morbidity and death.|MONDO|N|
C1274301|A benign neoplasm arising from the lymphatic vessels.|NCI|N|
C1274305|A benign neoplasm arising from the skin. It is composed of fibrohistiocytic cells, spindle fibroblastic cells, and histiocytes arranged in a storiform pattern.|NCI|N|
C1274321|Recurrent episodes of oral herpes, typically characterized by blisters or ulcers on the gums, lips and/or tongue caused by herpes virus.|HPO|N|
C1274323|Recurrent episodes of genital herpes, typically characterized by stages of erythema, papules, short-lived vesicles, painful ulcers, and crusts on the skin of the genitals and surrounding area, and that typically resolve over a period of 2 to 3 weeks.|HPO|N|
C1274377|An disease or disorder caused by infection with Vibrio vulnificus.|MONDO|N|
C1274594|A benign intraepidermal squamoproliferative neoplasm characterized by irregular acanthosis, hyperkeratosis, parakeratosis, and prominent chronic inflammation.|NCI|N|
C1274658|A rare isolated nail anomaly characterized by congenital unilateral or bilateral nail dysplasia (including micronychia, polyonychia, anonychia, hemionychrogryphosis, and malalignment) commonly involving the index fingers and/or other fingers or also toes, frequently associated with bony anomalies of the affected digits (such as Y-shaped bifurcation of the distal phalanx, brachymesophalangy, or syndactyly). The condition can be sporadic or familial.|ORPHANET|N|
C1274708|Central centrifugal cicatricial alopecia (CCCA) is the most common type of primary scarring alopecia affecting women of African ancestry, with an estimated prevalence of 2.7 to 5.6%. It may be triggered by hair-grooming habits; however, familial occurrence has been reported. Mean age at presentation is 36 years. The first sign is often unexplained hair breakage, followed by hair thinning, primarily involving the vertex scalp and progressing centrifugally. Histopathologic examination shows varying degrees of lymphocytic inflammation, follicular degeneration, and fibrosis (Malki et al., 2019).|OMIM|N|
C1274711|Transverse fractures through the hair shafts (trichoschisis). Trichoschisis is characterized by a sharp transverse fracture of the hair shaft.|HPO|N|
C1274743|Hyperhidrosis palmaris et plantaris (HYPRPP) is characterized by excessive perspiration of the eccrine sweat gland in the palm, sole, and axilla. Perspiration in those affected may be aggravated by emotional stimuli (summary by Higashimoto et al., 2006).
Stolman (1998) noted that hyperhidrosis may be complicated by skin maceration as well as secondary microbial infections, and that treatment modalities are associated with complications.|OMIM|N|
C1274753|Linear atrophoderma of Moulin (LAM) is characterized by mildly atrophic and hyperpigmented band-like lesions that follow the lines of Blaschko on the trunk or limbs. Since its initial description in 1992, less than 30 cases have been reported in the literature. Onset occurs during childhood or adolescence and the disease is non-progressive. There is no prior inflammation or subsequent scleroderma. The aetiology is unknown but as LAM follows the lines of Blaschko it has been suggested that the disease is caused by mosaicism of a predisposing gene.|ORDO|N|
C1274759|A rare acquired dermis elastic tissue disorder characterized by clinical and histopathologic evidence of pseudoxanthoma elasticum in the absence of a family history or specific mutation. Patients present with predominantly cutaneous manifestations consisting of yellowish papules which coalesce into large plaques and are most commonly localized on the neck, axillae, groin, and flexural surfaces. Skin biopsy shows accumulation of clumped, calcified elastic fibers in the mid-dermis. Reported underlying factors include previous liver transplantation, exposure to penicillamine, or concomitant beta-thalassemia.|ORDO|N|
C1274788|A rare, chronic allergic disease of the cornea and conjunctiva occurring in all age groups, characterized by severe itching and burning sensation, conjunctival injection, photophobia and edema with serious cases leading to ulceration of the cornea which can result in blindness. It is often associated with atopic dermatitis.|ORDO|N|
C1274789|Ligneous conjunctivitis (LC) is a rare form of chronic conjunctivitis characterized by the recurrent formation of pseudomembranous lesions most commonly on the palpebral surfaces. It is most frequently reported as a clinical manifestation of severe homozygous or compound-heterozygous hypoplasminogenemia.|MONDO|N|
C1274792|A rare otorhinolaryngological malformation characterized by congenital, typically bilateral and paramedian, symmetric or asymmetric fistulae in the lower lip, which are lined by labial mucosa. The malformation is usually asymptomatic, although it may communicate with accessory salivary glands and then result in secretion of saliva from the opening. Infections may also occur.|ORDO|N|
C1274795|Hereditary mucoepithelial dysplasia (HMD) is a rare autosomal dominant genodermatosis characterized by onset in infancy of a panepithelial defect involving the oral, nasal, conjunctival, vaginal, cervical, perineal, urethral, and bladder mucosa. Patients develop cataracts, blindness, nonscarring alopecia, perineal psoriasiform lesions, and follicular keratoses (Witkop et al., 1982). Although 1 family was reported to have progressive severe interstitial lung disease (Witkop et al., 1979), this feature has not been reported in other families and is not considered a criterion for diagnosis. However, the clinical triad of nonscarring alopecia, well-demarcated fiery red mucosa, and psoriasiform perineal involvement has been consistently observed (review by Boralevi et al., 2005).|OMIM|N|
C1274834|A rare, systemic, autoimmune disease characterized by inflammation in any organ system, with onset prior to adulthood, presenting highly variable clinical manifestations, which usually have a more aggressive course and higher rate of major organ involvement than adult-onset systemic lupus erythematosus, resulting in potential damage to a variety of organs (e.g. the skin, kidneys, lungs, nervous system).|ORPHANET|N|
C1274838|Hypertrophic or verrucous lupus erythematosus is a rare type of chronic cutaneous lupus erythematosus characterized by the appearance of lesions on sun-exposed areas (frequently the extensor surfaces of forearms, face, upper trunk) which vary from squamous violet, painful papules and blackish hyperkeratotic ulcers to depigmented atrophic plaques on the back, hyperkeratotic papules on upper extremities, and disseminated keratoacanthoma-like papulonodular verrucous lesions. Classic discoid lesions and squamous cell carcinoma may be associated. Histopathology reveals follicular plugging, liquefactive basal layer degeneration and a perivascular lymphocytic infiltrate.|ORDO|N|
C1274879|A rare skin disease characterized by the co-occurrence of a widespread vascular nevus (typically nevus flammeus) and a pigmentary nevus, potentially associated with a variety of other cutaneous nevi, and with or without extracutaneous (most commonly central nervous system, ocular, or musculoskeletal) involvement. Several subtypes are distinguished based on phenotypic characteristics.|ORDO|N|
C1274928|A syndrome characterized by an uncommon and relatively unknown cause of facial ulceration that occurs after damage to the trigeminal nerve. It characteristically involves non-healing facial ulceration(s) with accompanying anesthesia, paresthesia, and dysesthesia along the distribution of a trigeminal dermatome.|MONDO|N|
C1274983|A rare localised lipodystrophy characterised by the appearance of asymptomatic, well-demarcated, variably sized, depressed, lipoatrophic lesions secondary to subcutaneous, intradermic or intramuscular drug injection, including corticosteroids, insulin, human growth hormone and antibiotics. Skin colouration may vary from white or hypopigmented to reddish, pinkish or violaceous. Epidermal atrophy may be also present.|SNOMEDCT_US|N|
C1275035|A hyperkeratotic skin lesion that occurs in patients with a history of prolonged exposure to psoralen and ultraviolet A (PUVA) therapy.|NCI|N|
C1275047|Dryness of the oral mucosa secondary to radiation therapy.|NCI|N|
C1275050|Myalgia-eosinophilia syndrome associated with tryptophan is a rare systemic disease characterized by severe myalgia and peripheral eosinophilia associated with tryptophan dietary supplementation. The symptoms do not subside after tryptophan discontinuation. Clinical presentation includes muscle tenderness and cramps, fatigue, weakness, paresthesia, peripheral edema, arthralgia, dyspnea, skin rash, dry mouth, and development of scleroderma-like skin abnormalities.|ORDO|N|
C1275078|Carpenter syndrome is a condition characterized by the premature fusion of certain skull bones (craniosynostosis), abnormalities of the fingers and toes, and other developmental problems.\n\nCraniosynostosis prevents the skull from growing normally, frequently giving the head a pointed appearance (acrocephaly). In severely affected individuals, the abnormal fusion of the skull bones results in a deformity called a cloverleaf skull. Craniosynostosis can cause differences between the two sides of the head and face (craniofacial asymmetry). Early fusion of the skull bones can affect the development of the brain and lead to increased pressure within the skull (intracranial pressure). Premature fusion of the skull bones can cause several characteristic facial features in people with Carpenter syndrome. Distinctive facial features may include a flat nasal bridge, outside corners of the eyes that point downward (down-slanting palpebral fissures), low-set and abnormally shaped ears, underdeveloped upper and lower jaws, and abnormal eye shape. Some affected individuals also have dental abnormalities including small primary (baby) teeth. Vision problems also frequently occur.\n\nAbnormalities of the fingers and toes include fusion of the skin between two or more fingers or toes (cutaneous syndactyly), unusually short fingers or toes (brachydactyly), or extra fingers or toes (polydactyly). In Carpenter syndrome, cutaneous syndactyly is most common between the third (middle) and fourth (ring) fingers, and polydactyly frequently occurs next to the big or second toe or the fifth (pinky) finger.\n\nPeople with Carpenter syndrome often have intellectual disability, which can range from mild to profound. However, some individuals with this condition have normal intelligence. The cause of intellectual disability is unknown, as the severity of craniosynostosis does not appear to be related to the severity of intellectual disability.\n\nOther features of Carpenter syndrome include obesity that begins in childhood, a soft out-pouching around the belly-button (umbilical hernia), hearing loss, and heart defects. Additional skeletal abnormalities such as deformed hips, a rounded upper back that also curves to the side (kyphoscoliosis), and knees that are angled inward (genu valgum) frequently occur. Nearly all affected males have genital abnormalities, most frequently undescended testes (cryptorchidism).\n\nA few people with Carpenter syndrome have organs or tissues within their chest and abdomen that are in mirror-image reversed positions. This abnormal placement may affect several internal organs (situs inversus); just the heart (dextrocardia), placing the heart on the right side of the body instead of on the left; or only the major (great) arteries of the heart, altering blood flow.\n\nThe signs and symptoms of this disorder vary considerably, even within the same family. The life expectancy for individuals with Carpenter syndrome is shortened but extremely variable.\n\nThe signs and symptoms of Carpenter syndrome are similar to another genetic condition called Greig cephalopolysyndactyly syndrome. The overlapping features, which include craniosynostosis, polydactyly, and heart abnormalities, can cause these two conditions to be misdiagnosed; genetic testing is often required for an accurate diagnosis.|MedlinePlus Genetics|N|
C1275079|An acrocephalosyndactylia characterized by abnormalities in the bones of the legs, congenital heart defects and craniofacial defects and craniosynostosis. The patients suffer from cyanosis and other respiratory and breathing infections.|MONDO|N|
C1275081|Cardiofaciocutaneous (CFC) syndrome is characterized by cardiac abnormalities (pulmonic stenosis and other valve dysplasias, septal defects, hypertrophic cardiomyopathy, rhythm disturbances), distinctive craniofacial appearance, and cutaneous abnormalities (including xerosis, hyperkeratosis, ichthyosis, keratosis pilaris, ulerythema ophryogenes, eczema, pigmented moles, hemangiomas, and palmoplantar hyperkeratosis). The hair is typically sparse, curly, fine or thick, woolly or brittle; eyelashes and eyebrows may be absent or sparse. Nails may be dystrophic or fast growing. Some form of neurologic and/or cognitive delay (ranging from mild to severe) is seen in all affected individuals. Neoplasia, mostly acute lymphoblastic leukemia, has been reported in some individuals.|GeneReviews|N|
C1275083|A rare genetic skin disease characterized by generalized poikiloderma with marked accentuation in flexural regions and on extensor surfaces, sclerosis of palms and soles, and linear and reticulated hyperkeratotic and sclerotic bands in the axilla and the antecubital and popliteal fossae. Subcutaneous calcification, finger clubbing, Raynaud phenomenon, and cardiac abnormalities (such as severe aortic stenosis) have also been reported.|ORPHANET|N|
C1275084|A rare genetic vascular anomaly characterized by the presence of angiomatous lesions affecting the skin, brain, and spinal cord. Lesions of the central nervous system have a marked tendency to bleed. There have been no further descriptions in the literature since 1988.|ORDO|N|
C1275088|Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome is characterised by ichthyosis, hepatosplenomegaly and late-onset cerebellar ataxia. It has been described in two brothers. Transmission is either autosomal recessive or X-linked.|ORDO|N|
C1275089|Autosomal recessive keratitis-ichthyosis-deafness syndrome (KIDAR) is characterized by neonatal-onset ichthyotic erythroderma and profound sensorineural deafness, with failure to thrive and developmental delay in childhood. Severe corneal scarring with vision loss has been observed in adulthood. Low plasma copper and ceruloplasmin levels have been reported in some patients (Alsaif et al., 2019; Boyden et al., 2019).
An autosomal dominant form of KID syndrome (KIDAD; 148210) is caused by mutation in the GJB2 gene (121011) on chromosome 13q12.
Mutation in the AP1S1 gene (603531) causes a disorder with overlapping features (MEDNIK; 609313).|OMIM|N|
C1275113|A rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by blisters and erosions which from adolescence or early adulthood are primarily confined to flexural skin sites.|ORDO|N|
C1275114|Dystrophic epidermolysis bullosa (DEB) is a genetic skin disorder affecting skin and nails that usually presents at birth. DEB is divided into two major types depending on inheritance pattern: recessive dystrophic epidermolysis bullosa (RDEB) and dominant dystrophic epidermolysis bullosa (DDEB). Each type is further divided into multiple clinical subtypes. Absence of a known family history of DEB does not preclude the diagnosis. Clinical findings in severe generalized RDEB include skin fragility manifest by blistering with minimal trauma that heals with milia and scarring. Blistering and erosions affecting the whole body may be present in the neonatal period. Oral involvement may lead to mouth blistering, fusion of the tongue to the floor of the mouth, and progressive diminution of the size of the oral cavity. Esophageal erosions can lead to webs and strictures that can cause severe dysphagia. Consequently, malnutrition and vitamin and mineral deficiency may lead to growth restriction in young children. Corneal erosions can lead to scarring and loss of vision. Blistering of the hands and feet followed by scarring fuses the digits into "mitten" hands and feet, with contractures and pseudosyndactyly. The lifetime risk of aggressive squamous cell carcinoma is higher than 90%. In contrast, the blistering in the less severe forms of RDEB may be localized to hands, feet, knees, and elbows with or without involvement of flexural areas and the trunk, and without the mutilating scarring seen in severe generalized RDEB. In DDEB, blistering is often mild and limited to hands, feet, knees, and elbows, but nonetheless heals with scarring. Dystrophic nails, especially toenails, are common and may be the only manifestation of DDEB.|GeneReviews|N|
C1275116|Pseudoxanthoma elasticum (PXE) is a systemic disorder that affects the elastic tissue of the skin, the eye, and vascular system. Individuals most commonly present with angioid streaks of the retina found on routine eye examination or associated with retinal hemorrhage and/or characteristic papules in the skin. The most frequent cause of morbidity and disability in PXE is reduced vision due to complications of subretinal neovascularizations and macular atrophy. Other manifestations include premature gastrointestinal angina and/or bleeding, intermittent claudication of arm and leg muscles, stroke, renovascular hypertension, and cardiovascular complications (angina/myocardial infarction). Most affected individuals live a normal life span.|GeneReviews|N|
C1275122|CYLD cutaneous syndrome (CCS) typically manifests in the second or third decade with the appearance of multiple skin tumors including cylindromas, spiradenomas, trichoepitheliomas, and rarely, membranous basal cell adenoma of the salivary gland. The first tumor typically develops at puberty and tumors progressively accumulate through adulthood. Females often have more tumors than males. Tumors typically arise on the scalp and face but can also arise on the torso and sun-protected sites, such as the genital and axillary skin. A minority of individuals develop salivary gland tumors. Rarely, pulmonary cylindromas can develop in large airways and compromise breathing. Although the tumors are usually benign, malignant transformation is recognized.|GeneReviews|N|
C1275125|Porphyrias constitute a group of eight hereditary metabolic diseases characterized by intermittent neuro-visceral manifestations, cutaneous lesions or by the combination of both.|ORDO|N|
C1275126|Familial periodic fever (FPF) is an autoinflammatory disorder characterized by recurrent fever with localized myalgia and painful erythema. Febrile attacks may last 1 or 2 days but often last longer than 1 week. Arthralgia of large joints, abdominal pain, conjunctivitis, and periorbital edema are common features. During attacks, painless cutaneous lesions may develop on the trunk or extremities and may migrate distally (review by Drenth and van der Meer, 2001).|OMIM|N|
C1275130|A rare, congenital malformation syndrome characterized by the association of anterior ocular chamber cleavage disorder with developmental delay, short stature and congenital hypothyroidism. Additional manifestations include cerebellar hypoplasia, tracheal stenosis, narrow external auditory meatus, and hip dislocation. There have been no further description in the literature since 1995.|ORPHANET|N|
C1275193|A basal cell carcinoma of the skin that is characterized by cyst formation.|NCI|N|
C1275206|A variant of tricholemmoma that is characterized by extensive sclerotic stroma formation.|NCI|N|
C1275210|A benign sebaceous neoplasm arising in the deep dermis.|NCI|N|
C1275212|A rare intraepidermal neoplasia that arises from the acrosyringial portion of the eccrine duct.|NCI|N|
C1275214|A carcinoma that arises in a cylindroma.|NCI|N|
C1275217|An uncommon intraepithelial malignant neoplasm of eccrine or apocrine origin, arising from the vulva. It usually affects post-menopausal women. In approximately 10-20% of the cases there is an associated anorectal, or urothelial carcinoma or a skin appendage adenocarcinoma identified. It presents as a red, eczematous lesion. Microscopically, it is characterized by the presence of the typical Paget cells which are large, round cells with abundant cytoplasm and prominent nuclei.|NCI|N|
C1275226|A glomus tumor arising from the skin. It is characterized by the presence of dilated veins surrounded by glomus cells.|NCI|N|
C1275227|A glomangiomyoma that involves the zone of skin.|MONDO|N|
C1275236|A small, slow growing, benign neoplasm arising from the tendon sheaths. The tumor is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation.|NCI|N|
C1275237|Small white or flesh-colored waxy papules ranging in size from 0.5 to 1.2 cm.|SNOMEDCT_US|N|
C1275239|A rare benign cutaneous mesenchymal neoplasm of fibroblastic/myofibroblastic differentiation. (WHO 2018)|NCI|N|
C1275249|A morphologic variant of dermatofibrosarcoma protuberans characterized by the presence of areas of myofibroblastic differentiation.|NCI|N|
C1275252|A morphologic variant of atypical fibroxanthoma characterized by the presence of spindle-shaped fibrohistiocytic cells and a storiform growth pattern.|NCI|N|
C1275254|An undifferentiated pleomorphic sarcoma arising from the skin. It is characterized by the presence of spindle cells in a storiform pattern and histiocytes with abundant cytoplasm.|NCI|N|
C1275260|A meningioma (disease) that involves the zone of skin.|MONDO|N|
C1275264|A rare neurofibroma with epithelioid morphology.|NCI|N|
C1275265|A usually painless, slow growing benign tumor that most often arises from the extremities. It is characterized by the presence of abundant myxoid matrix and small epithelioid neoplastic Schwann cells.|NCI|N|
C1275273|Familial multiple lipomatosis (FML) is a rare autosomal dominant disorder characterized by numerous encapsulated lipomas on the trunk and extremities (Keskin et al., 2002).|OMIM|N|
C1275275|A benign adipocytic neoplasm, characterized by ill-defined tumor margins and the presence of variable proportions of mild to moderately atypical spindle cells, adipocytes, lipoblasts, pleomorphic cells, multinucleated giant cells, and a myxoid or collagenous extracellular matrix. It has a low tendency for local recurrence if incompletely excised. Unlike conventional atypical lipomatous tumors, there is no risk for dedifferentiation. (WHO 2020)|NCI|N|
C1275277|A benign neoplasm arising from the extraskeletal soft tissues near tendons and joints. It is a well circumscribed tumor characterized by the presence of chondrocytes, a lobulated hyaline cartilage growth pattern, and in some cases calcification.|NCI|N|
C1275278|Extraskeletal myxoid chondrosarcoma is a rare soft tissue neoplasm of chondroblastic origin. The tumors are most commonly found in middle-aged and elderly individuals, are more common among men, and are often detected as deep-seated lesions in the extremities. Despite their relatively low-grade malignancy, recurrence and metastasis may appear many years after the initial diagnosis. Histologic tissue section examination reveals a mixture of cellular and myxoid stromal components (Panagopoulos et al., 2002).|OMIM|N|
C1275279|A rare malignant tumor of soft tissue characterized by a bimorphic pattern composed of undifferentiated small round cells and islands of well differentiated hyaline cartilage.|NCI|N|
C1275280|An angiomyxoma arising from the dermis or subcutaneous tissues. It may recur following resection.|NCI|N|
C1275282|A low-grade, late-metastasizing variant of fibrosarcoma characterized by alternating fibrous and myxoid areas and a whorling growth pattern. The neoplastic cells have a spindle morphology, and lack hyperchromasia or significant nuclear atypia. Approximately 40% of cases show the focal presence of collagen rosettes. A t(7;16)(q33;p11) translocation has been identified in the majority of cases, associated with the presence of FUS-CREB3L2 fusion protein. Rare cases carry the t(11;16)(p11;p11) translocation which is associated with the presence of the FUS-CREB3L1 fusion protein.|NCI|N|
C1275321|A rare, indolent primary cutaneous B-cell lymphoma characterized by multifocal, red to violaceous papules, plaques or nodules localized predominantly on the trunk and extremities. Histologically, these are dermis infiltrates consisting of small, marginal zone B cells, lymphoplasmacytic cells, and plasma cells. Marginal zone B cells express CD20, CD79a and Bcl-2, and are negative for CD5, CD10 and Bcl-6. Plasma cells are typically located at the periphery, and express CD138, CD79a, and monotypic light chains.|ORDO|N|
C1275323|A plasmacytoma that arises in the skin.|NCI|N|
C1275325|A diffuse large B-cell lymphoma that arises from the skin. This category includes primary cutaneous diffuse large B-cell lymphoma, leg type, and primary cutaneous diffuse large B-cell lymphoma, other, which includes primary cutaneous intravascular large B-cell lymphoma and primary cutaneous T-cell/histiocyte-rich large B-cell lymphoma.|NCI|N|
C1275339|Necrobiotic xanthogranuloma is a rare, chronic and progressive, non-Langerhans cell histiocytosis disease typically characterized by multiple, indurated, asymptomatic to pruritic, yellow-orange plaques or nodules that tend to ulcerate and are usually located in the periorbital area, trunk and/or extremities. Strong association with paraproteinemia and/or malignant lymphoproliferative disease has been reported.|ORDO|N|
C1275363|A response that there are no tumor infiltrating lymphocytes.|NCI|N|
C1275403|A testicular germ cell tumor that has undergone either partial or complete regression, resulting in the creation of a fibrotic nodule in the testis.|NCI|N|
C1275417|Non-involuting congenital hemangiomas (NICH) are a distinctive type of large congenital hemangioma that are fully formed <i>in utero</i> and differ from rapidly involuting congenital hemangiomas (RICH; see this term) mainly because they do not undergo a postnatal involuting phase.|ORDO|N|
C1275419|A Spitz nevus associated with fibrous stroma formation.|NCI|N|
C1275420|An insidious poorly circumscribed neoplasm arising from the soft tissues outside the abdomen. It is characterized by the presence of elongated spindle-shaped fibroblasts, vascular collagenous stroma formation, and an infiltrative growth pattern.|NCI|N|
C1275421|Rapidly involuting congenital hemangiomas (RICH) are a distinctive type of congenital hemangioma that are fully formed <i>in utero</i> and differ from non-involuting congenital haemangiomas (NICH; see this term) mainly because they undergo rapid postnatal involution.|ORDO|N|
C1275592|An acute inflammation of the umbilical cord. It is characterized by the presence of polymorphonuclear cells migrating from the fetal umbilical cord vessels through the umbilical cord towards the bacteria containing amniotic fluid.|NCI|N|
C1275661|A group of acute myeloid leukemias characterized by recurrent genetic abnormalities, mainly balanced translocations. (WHO, 2001)|NCI|N|
C1275668|A rare malignant embryonal neoplasm characterized by the presence of small cells which resemble the cells of classic medulloblastoma and a minor population of melanin-forming neuroepithelial cells. It usually has an unfavorable clinical course.|NCI|N|
C1275684|A type of blepharitis that affects the meibomian glands and meibomian gland orifices. This abnormality can be associated with a spectrum of appearances ranging from meibomian seborrhoea (foaming meibomian gland secretions) and meibomianitis (inflamed meibomian glands), to chalazia.|HPO|N|
C1275685|Type II granular corneal dystrophy (GCDII) is a rare form of stromal corneal dystrophy (see this term) characterized by irregular-shaped well-demarcated granular deposits in the superficial central corneal stroma, and progressive visual impairment.|ORDO|N|
C1275705|Perioperative nursing care is provided to the patient within professional, legal, and ethical scope of practice.|PNDS|N|
C1275718|A variant of rosacea.|MSH|N|
C1275743|Medical or health condition that is concomitant or concurrent with the primary condition or disease under study.|NCI|N|
C1275806|Injury to perineum involving anal sphincter complex and internal anal sphincter and anal epithelium. (reVITALize)|NCI|N|
C1275808|Congenital central hypoventilation syndrome (CCHS) represents the extreme manifestation of autonomic nervous system dysregulation (ANSD) with the hallmark of disordered respiratory control. The age of initial recognition of CCHS ranges from neonatal onset (i.e., in the first 30 days of life) to (less commonly) later onset (from 1 month to adulthood). Neonatal-onset CCHS is characterized by apparent hypoventilation with monotonous respiratory rates and shallow breathing either during sleep only or while awake as well as asleep; ANSD including decreased heart rate beat-to-beat variability and sinus pauses; altered temperature regulation; and altered pupillary response to light. Some children have altered development of neural crest-derived structures (i.e., Hirschsprung disease, altered esophageal motility/dysphagia, and severe constipation even in the absence of Hirschsprung disease) and/or tumors of neural crest origin (neuroblastoma, ganglioneuroma, and ganglioneuroblastoma). Neurocognitive delay is variable, and possibly influenced by cyanotic breath holding, prolonged sinus pauses, need for 24-hour/day artificial ventilation, and seizures. Later-onset CCHS is characterized by alveolar hypoventilation during sleep and attenuated manifestations of ANSD.|GeneReviews|N|
C1275809|A type of transposition of the great arteries (TGA) in which aorta is in front of and primarily to the left of the pulmonary artery.|HPO|N|
C1275859|A morphologic finding indicating the presence of dysplastic changes in the transitional cell epithelium of the urinary tract.|NCI|N|
C1275959|A nerve sheath myxoma with increased cellularity.|NCI|N|
C1275974|A hamartomatous lesion (benign focal lesions composed of disorganized tissue elements) localized in the spleen.|HPO|N|
C1275975|Myxofibrosarcoma that arises from the dermis.|NCI|N|
C1276000|A type of divergent strabismus (exotropia) that develops in a poorly seeing eye.|HPO|N|
C1276001|A common ocular motility disorder characterized by vertical incomitance of the eyes in lateral gaze. In primary inferior oblique muscle overaction, an upshoot of the adducting eye occurs when gaze is directed into the field of action of the inferior oblique muscle, producing a greater upward excursion of the adducted eye than of the abducted eye.|HPO|N|
C1276002|An ocular motility abnormality characterized by an overacting superior oblique muscle resulting to vertical incomitance of the eyes in lateral gaze. On examination, this is commonly seen as a downshoot of the adducting eye occuring when gaze is directed into the field of action of the inferior oblique muscle, producing a greater downward excursion of the adducted eye than of the abducted eye.|HPO|N|
C1276035|Decreased fetal activity associated with multiple joint contractures, facial anomalies and pulmonary hypoplasia. Ultrasound examination may reveal polyhydramnios, ankylosis, scalp edema, and decreased chest movements (reflecting pulmonary hypoplasia).|HPO|N|
C1276137|A rare, poorly differentiated squamous cell carcinoma of the skin. It is characterized by the presence of tumor cells islands surrounded and infiltrated by lymphocytes and plasma cells.|NCI|N|
C1276140|A rare variant of mycosis fungoides (MF), a form of cutaneous T-cell lymphoma, characterized by the presence of localized patches or plaques with epidermal hyperplasia and intraepidermal proliferation of neoplastic T-cells, usually involving one extremity.|ORDO|N|
C1276141|A generalized or disseminated form of pagetoid reticulosis. Some authors consider it to be a primary cutaneous aggressive epidermotrophic CD8+ T-Cell lymphoma.|MSH|N|
C1276146|A lymphoma involving the skin.|NCI|N|
C1276238|Occurence of adrenarche at a later than normal age. Adrenarche normally occurs between six and eight years of age with increased adrenal androgen secretion; its exact biologic role is not well understood. It is accompanied by changes in pilosebaceous units, a transient growth spurt and the appearance of axillary and pubic hair in some children, but no sexual development.|HPO|N|
C1276265|Red blood cells that appear to have parts of them bitten away.|HPO|N|
C1276425|Describes a tumor border with an expanding and smooth configuration.|NCI|N|
C1276442|A Gleason score that is relatively uncommon and indicates a low-grade prostatic adenocarcinoma. The score or sum is estimated by adding the most prevalent and the second most prevalent histopathologic pattern of the malignant infiltrate.|NCI|N|
C1276801|A disease caused by infection with Erysipelothrix rhusiopathiae.|MONDO|N|
C1277187|Abnormality of left ventricular contraction, often defined operationally as an ejection fraction of less than 40 percent.|HPO|N|
C1277241|Delayed myelination.|HPO|N|
C1278278|A lack of mobility of ejaculated sperm.|HPO|N|
C1278821|An infectious process affecting the peripheral nerves.|NCI|N|
C1279264|An acute or chronic infectious process affecting any part of the genitourinary system.|NCI|N|
C1279270|A finding of multiple myeloma in which the lambda light chain of the immunoglobulin is defective.|NCI|N|
C1279296|A slowly progressing leukemia characterized by a clonal (malignant) proliferation of maturing and mature myeloid cells or mature lymphocytes. When the clonal cellular population is composed of myeloid cells, the process is called chronic myelogenous leukemia. When the clonal cellular population is composed of lymphocytes, it is classified as chronic lymphocytic leukemia, hairy cell leukemia, or T-cell large granular lymphocyte leukemia.|HPO|N|
C1279412|Episodes of muscle weakness.|HPO|N|
C1279420|Term was discontinued in 1997. In 2000, the term was removed from all records containing it, and replaced with ANXIETY DISORDERS, its postable counterpart.|PSY|N|
C1279481|The phenotypic spectrum of X-linked severe combined immunodeficiency (X-SCID) ranges from typical X-SCID (early-onset disease in males that is fatal if not treated with hematopoietic stem cell transplantation [HSCT] or gene therapy) to atypical X-SCID (later-onset disease comprising phenotypes caused by variable immunodeficiency, immune dysregulation, and/or autoimmunity). Typical X-SCID. Prior to universal newborn screening (NBS) for SCID most males with typical X-SCID came to medical attention between ages three and six months because of recurrent infections, persistent infections, and infections with opportunistic organisms. With universal NBS for SCID, the common presentation for typical X-SCID is now an asymptomatic, healthy-appearing male infant. Atypical X-SCID, which usually is not detected by NBS, can manifest in the first years of life or later with one of the following: recurrent upper and lower respiratory tract infections with bronchiectasis; Omenn syndrome, a clinical phenotype caused by immune dysregulation; X-SCID combined immunodeficiency (often with recurrent infections, warts, and dermatitis); immune dysregulation and autoimmunity; or Epstein-Barr virus-related lymphoproliferative complications.|GeneReviews|N|
C1279621|Majocchi's granuloma (MG) is an inflammatory and granulomatous, dermatophytic infection characterized by a granulomatous inflammation around the hair follicle. Histopathologically, MG demonstrates a nodular perifollicular granulomatous infiltrate of lymphoid cells, macrophages, epithelioid cells, multinucleated giant cells, and neutrophils. Unlike superficial dermatophytoses, fungal hyphae and spores can be detected not only on the surface of the epidermis but also within or around the hair follicles.|HPO|N|
C1279843|Abnormal level of metabolite or other abnormal analyte result in a stool test.|HPO|N|
C1279945|A rare rapidly progressive and histologically distinct form of idiopathic interstitial pneumonia.|ORDO|N|
C1280433|Localized loss of fat tissue.|HPO|N|
C1280469|A disease of the lymphatic vessels of the lower extremities that is caused by chronic exposure to irritant soils.|MONDO|N|
C1280798|Platelet-type von Willebrand disease (VWDP), also known as pseudo-von Willebrand disease, is an autosomal dominant bleeding disorder characterized by abnormally enhanced binding of von Willebrand factor by the platelet glycoprotein Ib (GP Ib) receptor complex. Hemostatic function is impaired due to the removal of VWF multimers from the circulation (Murata et al., 1993).
Miller (1996) gave a comprehensive review of the disorder.|OMIM|N|
C1281429|Obesity caused by caloric intake greater than caloric expenditures.|NCI|N|
C1281931|Blockage of the lacrimal duct.|HPO|N|
C1282204|A type of ectropion associated with orbicularis muscle weakness caused by cranial nerve VII palsy.|HPO|N|
C1282359|A chronic autoimmune disorder that belongs to the mucous membrane pemphigoid disorders. It is characterized by bilateral scarring and opacification of the conjunctivae. It presents with pain and burning sensation in the eyes and photophobia. It leads to blindness.|NCI|N|
C1282371|A benign tumor composed of adipose tissue and dense connective tissue usually located near the temporal fornix.|HPO|N|
C1282522|Gastric xanthomas (also known as xanthelasmas) are are plaque-like red lesions defined by the presence of histiocytic containing lipids.|HPO|N|
C1282609|An increased count of granulocytes in the peripheral blood circulation.|HPO|N|
C1282719|A finding of partial or decreased ossification, as indicated by reduced stain uptake.|NCI|N|
C1282799|Abormal enlargement of the penis owing to accumulation of fluid.|HPO|N|
C1282916|Raynaud phenomenon associated with an underlying autoimmune disorder.|NCI|N|
C1282952|Inflammation at the site of insertion of ligaments, tendons, and other fibrous structures into bone.|NCI|N|
C1282968|A subtype of type 2 von Willebrand disease characterized by a bleeding disorder associated with a decrease in the affinity of the Willebrand factor (VWF) for platelets and the subendothelium caused by a deficiency of high molecular weight VWF multimers. The disease manifests as mucocutaneous bleeding (menorrhagia, epistaxis, gastrointestinal hemorrhage, etc.).|ORDO|N|
C1282971|A subtype of type 2 von Willebrand disease characterized by a bleeding disorder associated with increased affinity of the Willebrand factor (VWF) for platelets leading to rapid clearance of both the platelets (increasing the risk of thrombocytopenia) and VWF from the plasma. The disease manifests as mucocutaneous bleeding (menorrhagia, epistaxis, gastrointestinal hemorrhage, etc.).|ORDO|N|
C1282974|A subtype of type 2 von Willebrand disease characterized by a bleeding disorder associated with decreased affinity of the Willebrand factor (VWF) for platelets or collagen in the absence of any deficiency of high molecular weight VWF multimers. The disease manifests as mucocutaneous bleeding (menorrhagia, epistaxis, gastrointestinal hemorrhage, etc.).|ORDO|N|
C1282975|A subtype of type 2 von Willebrand disease characterized by a bleeding disorder associated with a marked decrease in the affinity of the Willebrand factor (VWF) for factor VIII (FVIII). Abnormal bleeding manifestations are less frequent in this VWD subtype than in other forms of the disease. The disease manifests mainly as soft tissue bleeding (haematoma, post-operative bleeding, etc.).|ORDO|N|
C1282977|A candidiasis that results in fungal infection of the outer-most layer located in nail, has material basis in Candida species. The infection causes painful, red, swollen area around the nail, often at the cuticle or at the site of a hangnail or other injury.|MONDO|N|
C1282982|An indication that the patient''s condition is stable.|NCI|N|
C1283386|Post-capillary pulmonary hypertension is a hemodynamic condition characterized by elevated mean pulmonary artery pressure (mPAP greater than 20 mmHg) and pulmonary artery wedge pressure (PAWP greater than 15 mmHg) and pulmonary vascular resistance (PVR less than 3 Wood units).|HPO|N|
C1283400|Individuals deficient in butyrylcholinesterase (BCHE) appear asymptomatic, apart from a heightened sensitivity to muscle relaxants such as suxamethonium (succinylcholine) and mivacurium, 2 BCHE carboxylester substrates. In individuals with usual BCHE levels, these drugs are rapidly hydrolyzed in plasma and their duration of action is short (less than 10 minutes). BCHE deficiency results in slower hydrolysis of these drugs and, consequently, a prolonged neuromuscular block, leading to apnea. Prolonged neuromuscular block occurs with BCHE deficiencies of marked severity (impairment over 70%). Although many acquired conditions may affect BCHE activity (e.g., liver or renal diseases, malnutrition, pregnancy, malignancy), BCHE deficiency is mainly due to mutations in the BCHE gene (summary by Delacour et al., 2014).|OMIM|N|
C1283620|Congenital sucrose-isomaltase deficiency (CSID) is an autosomal recessive disorder characterized by absence of sucrase and most of the maltase digestive activity within the sucrase-isomaltase enzyme complex, with the isomaltase activity varying from absent to normal. The large amounts of unabsorbed disaccharides create osmotic-fermatative diarrhea with symptoms such as vomiting, flatulence, and abdominal pain (summary by Sander et al., 2006).|OMIM|N|
C1285162|A disorder characterized by the progressive loss of function and/or structure of the affected tissues.|NCI|N|
C1285174|An instance of auditory system disease that is caused by an inherited modification of the individual's genome.|MONDO|N|
C1285186|A genetic deficiency of any early component of the classical pathway (C1q, C1r/s, C2, C4, and C3) that is associated with autoimmune diseases due to the failure of clearance of immune complexes (IC) and apoptotic materials, and the impairment of normal humoral response.|MONDO|N|
C1285261|Disorders caused by nutritional imbalance, either overnutrition or undernutrition, in the FETUS in utero.|MSH|N|
C1285291|Accumulation of fluid in the peritoneal cavity during the fetal period.|HPO|N|
C1285334|Inflammation of cartilage.|HPO|N|
C1285373|A respiratory system disorder that occurs during the neonatal period. A representative example is the respiratory distress syndrome.|NCI|N|
C1285375|A benign, intermediate, or malignant neoplasm that affects muscles and bones.|NCI|N|
C1285445|A sleep disorder (insomnia, hypersomnia, or parasomnia) for which there is strong evidence that the disorder is etiologically linked to the direct physiological effects of a substance (i.e., a drug of abuse, a medication, or toxin exposure).|NCI|N|
C1285519|A rare benign renal neoplasm composed of moderately cellular spindle cells. It occurs mostly in infancy and childhood.|NCI|N|
C1285577|Reversible disturbances of consciousness, attention, cognition and perception that develop over a short period of time, and which last less than 3 months.|NANDA-I|N|
C1286104|A record of the food and liquid consumed by an individual.|NCI|N|
C1286298|The position of the fetus in the uterus.|NCI|N|
C1286384|Past record of an individual''s working life, including periods of unemployment.|PSY|N|
C1286385|Measure of how well someone performs given tasks at their place of work.|MSH|N|
C1286421|The first part of the fetus that is visible at the cervical opening during delivery.|NCI|N|
C1287399|The result of an evaluation technique using a visual display of structural or functional patterns of organs or tissues that is performed to determine the presence, absence, or degree of a condition.|NCI|N|
C1287401|A description of the findings from a biopsy.|NCI|N|
C1287748|A newborn reflex that is characterized by flexion of the toes when the sole of the foot is stroked.|NCI|N|
C1288279|A peripheral nerve lesion that involves the ulnar nerve.|MONDO|N|
C1288283|Circumscribed area of flaccid skin due to the loss of elastic tissue in the dermis.|HPO|N|
C1290008|A disease involving the superficial fascia.|MONDO|N|
C1290011|A disease involving the integumental system.|MONDO|N|
C1290049|Circumscribed morphea in which the lesions are restricted to the skin and the immediately underlying subcutaneous tissues.|NCI|N|
C1290071|A disease or disorder that involves the mouth mucosa.|MONDO|N|
C1290083|A neoplasm (disease) that involves the skin of eyelid.|MONDO|N|
C1290138|Limited systemic sclerosis (lSSc) (or SSc sine scleroderma) is a subset of systemic sclerosis (SSc; see this term) characterized by organ involvement in the absence of fibrosis of the skin.|ORDO|N|
C1290140|The occurrence of arthritis after infection with group A streptococcus. It is non-migratory, protracted in course, and poorly responsive to anti-inflammatory agents. (from Textbook of Pediatric Rheumatology, 6th ed. Cassidy, Petty, Laxer, and Lindsley)|NCI|N|
C1290148|A disease that involves the facial skeleton.|MONDO|N|
C1290244|A benign or malignant neoplasm that affects the sternum.|NCI|N|
C1290308|A benign or malignant neoplasm that affects the structures of the axilla. Representative examples include axillary lipoma, axillary lymph node lymphoma, and metastatic carcinoma to the axillary lymph nodes.|NCI|N|
C1290309|A benign or malignant neoplasm that affects the structures of the chest wall. Representative examples include chest wall lipoma and chest wall lymphoma.|NCI|N|
C1290325|A disease involving the lower respiratory tract.|MONDO|N|
C1290327|A cyst composed of maxillary sinus epithelium along a surgical line of entry|SNOMEDCT_US|N|
C1290344|Temporally uniform (all lesions are in the same stage of evolution) pattern of diffuse inflammatory interstitial process, mostly symmetric over the entire lung, involving mainly the alveolar septa.|HPO|N|
C1290353|A benign or malignant neoplasm that affects the epiglottis.|NCI|N|
C1290358|A benign or malignant neoplasm that arises from the hilar region of the lung.|NCI|N|
C1290398|A balloon type pouch or bulge in the wall of a cerebral artery.|NCI|N|
C1290401|A benign or malignant neoplasm that affects the endocardium.|NCI|N|
C1290402|A benign or malignant neoplasm that affects the myocardium.|NCI|N|
C1290403|A benign or malignant neoplasm that affects the inner layer of the pericardium.|NCI|N|
C1290407|A neoplasm involving a great vessel.|NCI|N|
C1290478|Juxtaposition of the atrial appendages is a rare atrial appendage anomaly when both appendages are located on the left or the right side of the great arteries. It is asymptomatic and is usually diagnosed incidentally, but is frequently associated with other congenital heart diseases.|ORDO|N|
C1290495|Congenital portosystemic shunt is a rare, congenital anomaly of the great veins characterized by an abnormal communication between one or more veins of the portal and the caval systems, resulting in complete or partial diversion of the portal blood away from the liver to the systemic circulation. Clinical manifestations include liver atrophy, hypergalactosemia without uridine diphosphate enzyme deficiency, hyperammonemia, encephalopathy (resulting in learning disabilities, extreme fatigability and seizures), pulmonary hypertension, hypoxemia from hepatopulmonary syndrome and benign or malignant tumours.|ORDO|N|
C1290497|Anomaly where the intestinal and the splenic venous drainage bypass the liver and drain into systemic veins through other possible venous shunts.|HPO|N|
C1290498|Congenital portal-systemic shunt in which at least some portal blood perfuses the liver.|SNOMEDCT_US|N|
C1290507|Absence of teeth as a result of impaction, delayed eruption, exfoliation or extraction.|SNOMEDCT_US|N|
C1290508|The presence of an altered number of of teeth.|HPO|N|
C1290511|A congenital defect characterized by the absence of one or more permanent teeth, including oligodontia, hypodontia, and adontia of the of permanent teeth.|HPO|N|
C1290608|Congenital small optic disc with normal visual function|SNOMEDCT_US|N|
C1290613|A disease or disorder that involves the upper digestive tract.|MONDO|N|
C1290708|Osteomyelitis of the lower jaw.|HPO|N|
C1290728|A rare radiation-induced disorder characterized by exposed irradiated bone that fails to heal over a period of three months without evidence of persisting or recurrent tumor. Patients present with pain, dysesthesia, dysgeusia, fetor oris, trismus, ulceration or necrosis of the mucosa with exposure of necrotic bone, and local suppuration. Complications include pathological fractures, formation of intra- or extra-oral fistulae, and infection. MRI shows cortical destruction, abnormal bone marrow signal, and irregular contrast enhancement.|ORDO|N|
C1290739|Defective dental restorationCHAR(13)|HL7V3.0|N|
C1290755|Noncarious lesion, where tooth is fatigued, flexed, and deformed by biomechanical loading of tooth, primarily at the cervical region. Usually wedge-shaped lesions with sharp-line angles, but sometimes circular invaginations on occlusal surfaces.|SNOMEDCT_US|N|
C1290783|A fibroma of the gums with calcification and possibly ossification|SNOMEDCT_US|N|
C1290807|The condition of having at least three loose or liquid bowel movements each day.|MONDO|N|
C1290846|Disorders characterised by eye movement abnormalities that are the result of brain, cranial nerve, or neuromuscular junction dysfunction.|SNOMEDCT_US|N|
C1290854|A non-neoplastic or neoplastic disorder that affects structures of the skull.|NCI|N|
C1290855|A disease involving the ocular adnexa.|MONDO|N|
C1290870|A non-neoplastic or neoplastic disorder that affects the structures of the axilla. Representative examples include axillary lymphadenitis, axillary lipoma, and metastatic carcinoma to the axillary lymph nodes.|NCI|N|
C1290884|An infectious or non infectious disorder characterized by signs and symptoms derived from focal or extensive tissue infiltration by acute (e.g., polymorphonuclear) or chronic (e.g., lymphocytic-plasmacytic) inflammatory cells. Representative examples of infectious disorders include viral infections, bacterial infections, and parasitic infections. Representative examples of non-infectious inflammatory disorders include inflammatory bowel disease and inflammatory polyps.|NCI|N|
C1290896|A person becomes a claimant under a motor vehicle accident insurance because of a motor vehicle accident related health condition or injury.CHAR(13)|HL7V3.0|N|
C1290912|The results of a palpation examination.|NCI|N|
C1290916|Imaging results obtained through a radiology procedure.|NCI|N|
C1290928|Complex activities performed to support basic life skills|CCC|N|
C1290940|A response indicating that an individual can transfer independently of help from others.|NCI|N|
C1290999|An abnormal result of a physical examination of the the hand that tests for palsy of the ulnar nerve. This nerve innervates the adductor pollicis and interossei muscles and thereby enables adduction of the thumb and extension of the interphalangeal joint. An abnormal result consists in reduced functionality and muscular weakness in the pinch grip between the thumb and index finger of the affected hand as the patient attempts to pinch a piece of paper that the examiner tries to pull away. The flexor pollicis longus muscle tries to compensate for the weakness by flexing the tip of the thumb at the interphalangeal joint.|HPO|N|
C1291034|A heart murmur that has an auditory quality similar to the sound of a person blowing air.|NCI|N|
C1291044|Symptoms, physical examination results, and/or laboratory test results related to the integumentary system.|NCI|N|
C1291045|An anomaly of the wave-like muscle contractions of the digestive tract.|HPO|N|
C1291070|An abnormality of the dental root.|HPO|N|
C1291077|Distention of the abdomen associated with a feeling of fullness.|NCI|N|
C1291155|An elevated concentration of circulating cholesterol esters, which are fatty acid esters of cholesterol and make up about two-thirds of total plasma cholesterol.|HPO|N|
C1291166|Increase in the amount of porphyrin.|NCI|N|
C1291230|3-hydroxyacyl-CoA dehydrogenase deficiency is an inherited condition that prevents the body from converting certain fats to energy, particularly during prolonged periods without food (fasting).\n\nInitial signs and symptoms of this disorder typically occur during infancy or early childhood and can include poor appetite, vomiting, diarrhea, and lack of energy (lethargy).  Affected individuals can also have muscle weakness (hypotonia), liver problems, low blood glucose (hypoglycemia), and abnormally high levels of insulin (hyperinsulinism).  Insulin controls the amount of glucose that moves from the blood into cells for conversion to energy.  Individuals with 3-hydroxyacyl-CoA dehydrogenase deficiency are also at risk for complications such as seizures, life-threatening heart and breathing problems, coma, and sudden death. This condition may explain some cases of sudden infant death syndrome (SIDS), which is defined as unexplained death in babies younger than 1 year.\n\nProblems related to 3-hydroxyacyl-CoA dehydrogenase deficiency can be triggered by periods of fasting or by illnesses such as viral infections. This disorder is sometimes mistaken for Reye syndrome, a severe disorder that may develop in children while they appear to be recovering from viral infections such as chicken pox or flu. Most cases of Reye syndrome are associated with the use of aspirin during these viral infections.|MedlinePlus Genetics|N|
C1291245|A rare, genetic, endocrine disease characterized by defect in conversion of cortisone to active cortisol, resulting in ACTH-mediated excessive androgen release from adrenal glands. Premature adrenarche is typical with precocious pseudopuberty, proportionate tall stature and accelerated bone maturation in males, and hirsutism, oligoamenorrhea, central obesity and infertility in females. Imaging studies may indicate adrenal hyperplasia.|ORDO|N|
C1291266|A reduction in aldehyde oxidase level.|HPO|N|
C1291299|Approximately 10% of patients with congenital hypothyroidism harbor inborn errors of metabolism in one of the steps for thyroid hormone synthesis in thyrocytes (Vono-Toniolo et al., 2005). The most prevalent cause of thyroid dyshormonogenesis is TPO deficiency (Park and Chatterjee, 2005). Defects in TPO cause a severe form of congenital hypothyroidism characterized by a complete and immediate release of accumulated radioiodide from the thyroid after sodium perchlorate administration (Bakker et al., 2000). This release of radioiodide represents total iodine organification defect (TIOD), a disruption of the process by which iodide present in the thyroid is oxidized by hydrogen peroxide and bound to tyrosine residues in thyroglobulin (TG; 188450) to form iodotyrosine.|OMIM|N|
C1291316|A deficiency in an enzyme that promotes reduction of an organic compound.|NCI|N|
C1291329|Transaldolase deficiency (TALDOD) is a rare inborn error of pentose metabolism. Typical features include intrauterine growth restriction, triangular face, loose wrinkly skin at birth, and development of progressive liver failure (summary by Lee-Barber et al., 2019).|OMIM|N|
C1291373|SHPK deficiency is an autosomal recessive inborn error of metabolism characterized by increased urinary erythritol and sedoheptulose. Additional phenotypic consequences of this deficiency are unclear (summary by Wamelink et al., 2015).|OMIM|N|
C1291463|3-Phosphoserine phosphatase deficiency is an extremely rare form of serine deficiency syndrome (see this term) characterized clinically by congenital microcephaly and severe psychomotor retardation in the single reported case to date, which was associated with Williams syndrome (see this term).|ORDO|N|
C1291490|Mucopolysaccharidosis type IX (MPS9) is a rare progressive lysosomal storage disorder caused by the deficiency of the enzyme hyaluronoglucosaminidase-1, which degrades hyaluronan (summary by Imundo et al., 2011).|OMIM|N|
C1291512|Beta-ureidopropionase deficiency is a rare autosomal recessive inborn error of metabolism due to a defect in pyrimidine degradation. Less than 10 patients have been reported, and the phenotype can range from severe neurologic involvement with mental retardation and seizures to normal neurologic development (Yaplito-Lee et al., 2008).|OMIM|N|
C1291560|A disease that has its basis in the disruption of glutamate decarboxylase activity.|MONDO|N|
C1291561|Phosphoribosylaminoimidazole carboxylase deficiency (PAICSD) is an autosomal recessive disorder characterized by multiple congenital anomalies and early neonatal death (Pelet et al., 2019).|OMIM|N|
C1291564|Aromatic L-amino acid decarboxylase deficiency (AADCD) is an autosomal recessive inborn error in neurotransmitter metabolism that leads to combined serotonin and catecholamine deficiency (Abeling et al., 2000). The disorder is clinically characterized by vegetative symptoms, oculogyric crises, dystonia, and severe neurologic dysfunction, usually beginning in infancy or childhood (summary by Brun et al., 2010).|OMIM|N|
C1291579|A rare, autosomal dominant, inherited disorder caused by mutation of the ENO1 gene. It is associated with spherocytic hemolytic anemia, exercise-induced myalgia and weakness.|NCI|N|
C1291607|Deficiency of maleylacetoacetate isomerase (MAAID) is characterized by mild elevations in succinylacetone in blood and urine, usually identified by newborn screening. Liver function and coagulation are normal. MAAID is differentiated from hepatorenal tyrosinemia (TYRSN1; 276700), which is also identified by hypersuccinylacetonemia on newborn screening but is a severe disorder with hepatic failure, renal tubulopathy, rickets, and porphyria-like neurologic crises. MAAID and TYRSN1 are caused by mutations in genes encoding the penultimate and ultimate enzymes, respectively, in the phenylalanine and tyrosine degradation pathway (summary by Yang et al., 2017).|OMIM|N|
C1291609|Ribose-5-P isomerase deficiency is an extremely rare, hereditary, disorder of pentose phosphate metabolism characterized by progressive leukoencephalopathy and a highly increased ribitol and D-arabitol levels in the brain and body fluids. Clinical presentation includes psychomotor delay, epilepsy, and childhood-onset slow neurological regression with ataxia, spasticity, optic atrophy and sensorimotor neuropathy.|ORDO|N|
C1291620|A rare, autosomal recessive, inherited disorder caused by mutation of the BPGM gene. It is characterized by hemolytic anemia and splenomegaly.|NCI|N|
C1291658|Symptoms, physical examination results, and/or laboratory test results related to the urinary system.|NCI|N|
C1291667|Magnesium ammonium phosphate crystals in the urine.|HPO|N|
C1291704|The beginning of development of the breasts in the female. [GOC:curators, PMID:19117864]|GO|N|
C1291710|Abnormalities in the intensity, frequency, or duration of observable and expressed emotions.|HPO|N|
C1291764|Symptoms, physical examination results, and/or laboratory test results related to the immune system.|NCI|N|
C1292123|Symptoms, physical examination results, and/or laboratory test results related to the hematopoietic system.|NCI|N|
C1292133|An increased amount of iron in the bone marrow.|HPO|N|
C1292230|Autosomal recessive inheritance of the Lutheran null blood group phenotype is extremely rare, and has been reported in only 5 individuals. There is no obvious associated clinical or hematologic pathology, and all patients have been identified through identification of anti-Lu3 antibodies in their serum (Karamatic Crew et al., 2007).
The Lutheran inhibitor blood group phenotype (In(Lu); 111150) is characterized phenotypically by the apparent absence of the Lu antigen on red blood cells during serologic tests, i.e. Lu(a-b-). Since it is inherited as an autosomal dominant trait, it was initially postulated to result from an inhibitor of the Lu antigen. However, Singleton et al. (2008) found that the phenotype results from a mutation in the transcription factor KLF1 that regulates expression of the BCAM gene. These 2 forms of Lutheran absence on red blood cells can be differentiated both by the pedigree and by serologic studies.
An X-linked recessive form (309050) has been rarely reported.|OMIM|N|
C1292753|Primary effusion lymphoma (PEL) is a large B-cell lymphoma located in the body cavities, characterized by pleural, peritoneal, and pericardial fluid lymphomatous effusions and that is always associated with human herpes virus-8 (HHV-8).|ORDO|N|
C1292754|A rare subtype of diffuse large B-cell lymphoma (DLBCL), arising from B cells of thymic origin, predominantly affecting women between the ages of 20-30, and that usually presents with a bulky and rapidly expanding anterior mediastinal mass, often with pleural and pericardial effusions, and that can invade the lungs, superior vena cava, pleura, pericardium, and chest wall, leading to manifestations of cough, dyspnea, and superior vena cava syndrome.|ORDO|N|
C1292758|The most frequent type of lymphoblastic lymphoma. It comprises approximately 85-90% of cases. It is more frequently seen in adolescent males. It frequently presents with a mass lesion in the mediastinum. Pleural effusions are common. (WHO, 2001)|NCI|N|
C1292769|The most frequent type of acute lymphoblastic leukemia. Approximately 75% of cases occur in children under six years of age. This is a good prognosis leukemia. In the pediatric age group the complete remission rate is approximately 95% and the disease free survival rate is 70%. Approximately 80% of children appear to be cured. In the adult age group the complete remission rate is 60-85%. (WHO, 2001)|NCI|N|
C1292771|A chronic myeloproliferative neoplasm characterized by the expression of the BCR-ABL1 fusion gene. It presents with neutrophilic leukocytosis. It can appear at any age, but it mostly affects middle aged and older individuals. Patients usually present with fatigue, weight loss, anemia, night sweats, and splenomegaly. If untreated, it follows a biphasic or triphasic natural course; an initial indolent chronic phase which is followed by an accelerated phase, a blast phase, or both. Allogeneic stem cell transplantation and tyrosine kinase inhibitors delay disease progression and prolong overall survival.|NCI|N|
C1292772|A rare myelodysplastic/myeloproliferative neoplasm characterized by peripheral blood leukocytosis due to increased numbers of morphologically dysplastic neutrophils and their precursors, hypercellular bone marrow with granulocytic proliferation and dysplasia (with or without dysplasia in the erythroid and megakaryocytic lineages), and prominent dysgranulopoiesis, but no or minimal absolute basophilia or monocytosis. Blasts account for less than 20% of leukocytes in the blood and bone marrow. BCR-ABL1 fusion is absent, as well as PDGFRA, PDGFRB or FGFR1 rearrangement, or PCM1-JAK2. Patients may present with signs and symptoms related to splenomegaly, anemia, or thrombocytopenia. Prognosis is generally poor.|ORDO|N|
C1292773|A rare acute myeloid leukemia (AML) characterized by the presence of acute leukemia with at least 20% peripheral blood or bone marrow blasts with morphological features of myelodysplasia, or occurrence in patients with a prior history of a myelodysplastic syndrome (MDS) or myelodysplastic/myeloproliferative neoplasm, with MDS-related cytogenetic abnormalities, in the absence of specific genetic abnormalities characteristic of AML with recurrent genetic abnormalities. Prior cytotoxic or radiation therapy for an unrelated disease must be excluded. The condition occurs mainly in elderly patients and is rare in children. Patients often present with severe pancytopenia. Prognosis is generally poor.|ORDO|N|
C1292774|An acute myeloid leukemia with t(8;21)(q22; q22.1) giving rise to RUNX1/RUNX1T1 fusion transcript and showing maturation in the neutrophil lineage. The bone marrow and the peripheral blood show large myeloblasts with abundant basophilic cytoplasm, often containing azurophilic granules. This type of AML is associated with good response to chemotherapy and high complete remission rate.|NCI|N|
C1292775|A rare tumor arising from hematopoietic and lymphoid tissues characterized by abnormal proliferation and differentiation of a clonal population of myeloid stem cells carrying unspecific 11q23 abnormalities. Clinical manifestations result from accumulation of malignant myeloid cells within the bone marrow, peripheral blood and other organs, and include leukocytosis, anemia, thrombocytopenia, fatigue, anorexia and weight loss.|ORDO|N|
C1292776|Acute myeloid leukemias, myelodysplastic syndromes, and myelodysplastic/myeloproliferative neoplasms arising as a result of the mutagenic effect of chemotherapy agents and/or radiation that are used for the treatment of neoplastic or non-neoplastic disorders.|NCI|N|
C1292777|An extremely rare and highly aggressive neoplasm, usually manifesting in the third to fourth decade of life, affecting males and females equally, and characterized by the onset of high fever, weight loss, jaundice, skin infiltration, lymphadenopathy, hepatosplenomegaly, and severe anemia. It has a fulminant and rapidly fatal disease course with the progressive appearance of multiorgan failure and disseminated intravascular coagulation.|ORDO|N|
C1292778|A clonal hematopoietic stem cell disorder, characterized by proliferation in the bone marrow of one or more of the myeloid (i.e., granulocytic, erythroid, megakaryocytic, and mast cell) lineages. It is primarily a neoplasm of adults. (WHO 2008)|NCI|N|
C1292779|A myelodysplastic syndrome characterized by a deletion between bands q31 and 33 on chromosome 5. The number of blasts in the bone marrow and blood is <5%. The bone marrow is usually hypercellular or normocellular with increased number of often hypolobated megakaryocytes. The peripheral blood shows macrocytic anemia. This syndrome occurs predominantly but not exclusively in middle age to older women. The prognosis is good and transformation to acute leukemia is rare. (WHO, 2001)|NCI|N|
C1292780|A myelodysplastic syndrome caused by chemotherapy and/or radiotherapy.|NCI|N|
C1295585|A decrease in the ability to perceive vibration. Clinically, this is usually tested with a tuning fork which vibrates at 128 Hz and is applied to bony prominences such as the malleoli at the ankles or the metacarpal-phalangeal joints. There is a slow decay of vibration from the tuning fork. The degree of vibratory sense loss can be crudely estimated by counting the number of seconds that the examiner can perceive the vibration longer than the patient.|HPO|N|
C1295588|Susceptible to life-threatening, uninhibited response of the sympathetic nervous system post-spinal shock, in an individual with spinal cord injury or lesion at the 6th thoracic vertebra (T6) or above (has been demonstrated in patients with injuries at the 7th thoracic vertebra [T7] and the 8th thoracic vertebra [T8]), which may compromise health.|NANDA-I|N|
C1295607|Reduced amount of the thyroid-stimulating hormone (TSH), which is produced by the anterior pituitary gland and stimulates the function of the thyroid gland.|HPO|N|
C1295643|An elevation above normal limits of the concentration of estradiol in the circulation.|HPO|N|
C1295677|An elevated concentration of glucagon in the blood circulation.|HPO|N|
C1295678|A reduced concentration of glucagon in the blood circulation.|HPO|N|
C1295715|A laboratory test result which indicates decreased levels of fibrinogen in a biological specimen.|NCI|N|
C1297929|A general term that refers to atypical hyperplastic proliferations of the epithelial cells in the breast parenchyma. Examples include atypical ductal hyperplasia, atypical lobular hyperplasia, and columnar cell hyperplasia with atypia.|NCI|N|
C1297955|The spread of a malignant neoplasm to the seminal vesicle from an adjacent or distant anatomic site.|NCI|N|
C1298685|Chronic form of disorder involving pain.|MONDO|N|
C1298692|Cleft lip and alveolus is a fissure type embryopathy that involves the upper lip, nasal base and alveolar ridge in variable degrees.|ORDO|N|
C1298695|Underdevelopment of the optic disc, that is of the optic nerve head, where ganglion cell axons exit the eye to form the optic nerve.|HPO|N|
C1298714|Complete or partial blockage of the ureter at the point where it enters the kidney that is present at birth.|NCI|N|
C1298817|Any ventricular septal defect (VSD) that does not restrict flow across it sufficiently to generate a pressure gradient between the two sides of the VSD.|HPO|N|
C1298820|An abnormal localized widening (dilatation) of the aortic root.|HPO|N|
C1298902|The current status of the device.|NCI|N|
C1298908|The non-affirmative response to a question.|NCI|N|
C1299237|A carcinoma that arises from epithelial cells of the endocervix.|MONDO|N|
C1299238|A carcinoma that arises from the squamous epithelium of the exocervix.|NCI|N|
C1299239|A carcinoma of the larynx that arises from the subglottic area.|NCI|N|
C1299240|A carcinoma of the larynx that arises from the supraglottic area.|NCI|N|
C1299260|Kaposi sarcoma that has spread from its original site of growth to another anatomic site.|NCI|N|
C1299360|A ranking of what percent of the reference population the individual would equal or exceed.|NCI|N|
C1299369|An indication that medication was not administered.|NCI|N|
C1299478|A score assigned to a biopsy sample based on the appearance of nuclei in a tumor.|NCI|N|
C1299479|A score assigned to a biopsy sample to indicate the number of mitotic cells present in a tumor.|NCI|N|
C1299539|A bacterial, fungal or viral infectious process affecting the scrotum.|NCI|N|
C1299564|An abnormal accumulation of cerebrospinal fluid within the ventricles of the brain that occurs as a later sequela of an intraventricular or subarachnoid hemorrhage.|NCI|N|
C1299582|A response indicating that an individual cannot do something.|NCI|N|
C1299586|Something not easily done, accomplished, comprehended, or solved.|NCI|N|
C1299624|A rare, genetic, primary orthostatic disorder characterized by dizziness, palpitations, fatigue, blurred vision and tachycardia following postural change from a supine to an upright position, in the absence of hypotension. A syncope with transient cognitive impairment and dyspnea may also occur. The norepinephrine transporter deficiency leads to abnormal uptake and high plasma concentrations of norepinephrine.|ORDO|N|
C1299627|A rare central nervous system malformation characterized by a fluid-filled longitudinally oriented cavity (syrinx) within the spinal cord, which may or may not communicate with the central canal, does not have an ependymal lining, and is either idiopathic or seen as a familial malformation. Clinical manifestations in symptomatic patients include neuropathic pain, as well as sensory and motor disturbances. Typical presentations may be cape-like loss of pain and temperature sensation along the torso and arms, or disproportionately greater motor impairment in upper compared to lower extremities.|ORDO|N|
C1299628|A form of spastic cerebral palsy affecting the lower half of the body, including both legs.|SNOMEDCT_US|N|
C1299683|Rupture of the fibrous strands connecting the ciliary body and the crystalline lens of the eye.|NCI|N|
C1299889|A developmental defect characterized by underdevelopment of hte portal vein.|HPO|N|
C1299890|A congenital anomaly of a vertebra in which it develops characteristic(s) of the adjoining structure or region.|SNOMEDCT_US|N|
C1299892|This anomaly, also known as Mittendorf dot, is a benign, nonprogressive recognizable lesion that does not cause visual impairment. However, it can resemble a pathological congenital or acquired cataract lesion which may enlarge and cause visual impairment. The dot appears as a black speck that ranges in size from the dot made by a sharp pencil point to the size of a poppy seed. It is usually well defined, although occasionally there may be irregular, fine lines radiating outward from the dot.|HPO|N|
C1299919|protozoan infection found in animals and man; caused by several different genera of Coccidia.|CSP|N|
C1300070|Describes the morphologic appearance where a tumor meets the adjacent tissue.|NCI|N|
C1300125|The distance of the closest surgical margin from tumor after surgical resection of the tumor. The closest distance between a tumor and its resection margin has prognostic significance.|NCI|N|
C1300127|A rare soft tissue tumor characterized by distinctive perivascular epitheloid cells, often arranged radially around a vascular lumen, as well as spindled cells in variable proportion. Melanocytic and muscle markers are typically positive. The tumors have been reported in the uterus, falciform ligament, and large and small intestine, among others. Depending on their location, they may present as a painful or painless mass, or with vaginal bleeding. Tumors displaying infiltrative growth, marked hypercellularity, nuclear enlargement and hyperchromasia, high mitotic activity, atypical mitotic figures, and/or coagulative necrosis should be regarded as malignant.|ORDO|N|
C1300128|Villitis of unknown etiology (synonymous with villitis of unknown etiology) is a histologic diagnosis and, although it may have a variable distribution, evidence indicates that 3 parenchymal blocks will identify 62% of villitis, reaching an asymptote of 6 and 7 blocks identifying 85% of villitis. Villitis of unknown etiology by definition excludes those cases where an etiology is identified, such as viral or acute infections, and thus is preferred to the term nonspecific chronic villitis. It is usually lymphohistiocytic|HPO|N|
C1300228|A rare, lethal skeletal dysplasia characterized by short limbed dwarfism, osteogenesis imperfecta, and punctate calcification within cartilage. It has been described in less than ten cases.|ORDO|N|
C1300257|Thanatophoric dysplasia (TD) is a short-limb skeletal dysplasia that is usually lethal in the perinatal period. TD is divided into subtypes: TD type I is characterized by micromelia with bowed femurs and, uncommonly, the presence of craniosynostosis of varying severity. TD type II is characterized by micromelia with straight femurs and uniform presence of moderate-to-severe craniosynostosis with cloverleaf skull deformity. Other features common to type I and type II include: short ribs, narrow thorax, relative macrocephaly, distinctive facial features, brachydactyly, hypotonia, and redundant skin folds along the limbs. Most affected infants die of respiratory insufficiency shortly after birth. Rare long-term survivors have been reported.|GeneReviews|N|
C1300260|Sponastrime dysplasia is an autosomal recessive spondyloepimetaphyseal dysplasia (SEMD) named for characteristic clinical and radiographic findings, including spine (spondylar) abnormalities, midface hypoplasia with a depressed nasal bridge, and striation of the metaphyses. Additional features include disproportionate short stature with exaggerated lumbar lordosis, scoliosis, coxa vara, limited elbow extension, small dysplastic epiphyses, childhood cataracts, short dental roots, and hypogammaglobulinemia. Radiographically, the abnormalities of the lumbar vertebral bodies are suggested to be the most specific finding because the characteristic metaphyseal striations may not be apparent at young ages. Striking clinical variability in presentation, severity, and associated features has been observed (summary by Burrage et al., 2019).|OMIM|N|
C1300267|Type B1 brachydactyly (BDB1) is the most severe type of human brachydactyly, and shows high penetrance and variable expressivity. Hypoplastic or absent distal phalanges and nails of digits 2 through 5 in the hands and feet are cardinal phenotypic features of BDB1. The middle phalanges of digits 2 through 5 are usually short and may form a bony fusion with the corresponding hypoplastic distal phalanges. The deformed thumbs are often flat, broad, or bifid. A rarer feature of BDB1 is cutaneous syndactyly affecting both fingers and toes (summary by Lv et al., 2009).|OMIM|N|
C1300285|Saul-Wilson syndrome (SWS) is a skeletal dysplasia characterized by profound short stature, distinctive craniofacial features, short distal phalanges of fingers and toes, and often clubfoot. Early development (primarily speech and motor) is delayed; cognition is normal. Other findings can include hearing loss (conductive, sensorineural, and mixed), lamellar cataracts, and/or rod-cone retinal dystrophy. To date, 16 affected individuals have been reported.|GeneReviews|N|
C1300287|Transient neonatal hyperparathyroidism is characterized by interference with placental maternal-fetal calcium transport, causing fetal calcium deficiency resulting in hyperparathyroidism and metabolic bone disease. Because 80% of calcium is transferred during the third trimester, abnormalities may not be detected on second-trimester ultrasounds. Affected infants present at birth with prenatal fractures, shortened ribs, and bowing of long bones, as well as respiratory and feeding difficulties. Postnatal recovery or improvement is observed once calcium is provided orally, with most patients showing complete resolution of skeletal abnormalities by 2 years of age (Suzuki et al., 2018).|OMIM|N|
C1300346|A rare benign soft tissue neoplasm characterized by the presence of an abundant collagenous or myxocollagenous matrix, spindle-shaped, and stellate-shaped fibroblasts. It usually presents as an asymptomatic, slowly growing subcutaneous mass. The most common sites of involvement are the upper arm, shoulder, and lower limb.|NCI|N|
C1300347|An adenomyoma characterized by the presence of marked glandular architectural complexity.|NCI|N|
C1300585|A neuroendocrine carcinoma of the prostate gland with unfavorable prognosis, composed of small cells containing neurosecretory granules. Approximately half of the cases show a mixture of small cells and adenocarcinoma cells.|MONDO|N|
C1300740|A response that the tumor regression is absent.|NCI|N|
C1300818|A neoplasm characterized by focal or diffuse tumor cell necrosis.|NCI|N|
C1301034|A pre-cancerous, non-invasive pancreatic epithelial neoplasm that arises from and is confined to the pancreatic ducts. It is a papillary or flat neoplasm that usually measures less than 5 mm in diameter.|NCI|N|
C1301048|A carcinoma that arises from the pancreas showing a mixture of ductal and neuroendocrine malignant cells in both the primary tumor and in the metastatic sites.|MONDO|N|
C1301149|Any structural anomaly of mast cells, which are found in almost all tissues and contain numerous basophilic granules and are capable of releasing large amounts of histamine and heparin upon activation.|HPO|N|
C1301194|An aggressive, high grade adenocarcinoma that arises from the salivary glands. It usually affects elderly males and presents as a rapidly enlarging mass. It metastasizes to regional lymph nodes and distant anatomic sites.|NCI|N|
C1301270|A benign epithelial neoplasm of the skin. It presents as a papular or nodular lesion. Morphologically, it is characterized by the presence of hyperkeratosis, acanthosis, papillomatosis, and prominent acantholysis.|NCI|N|
C1301355|A category of clonal hematopoietic disorders that have both myelodysplastic and myeloproliferative features at the time of initial presentation.|NCI|N|
C1301356|A myelodysplastic syndrome characterized by bi-cytopenia or pancytopenia, dysplastic changes in 10% or more of the cells in two or more of the myeloid cell lines, and 15% or more ring sideroblasts in the bone marrow. (WHO, 2001)|NCI|N|
C1301357|An acute leukemia in which the blasts lack sufficient evidence to classify as myeloid or lymphoid or they have morphologic and/or immunophenotypic characteristics of both myeloid and lymphoid cells. (WHO, 2001)|NCI|N|
C1301359|A neoplasm of lymphoblasts committed to the T-cell lineage, typically composed of small to medium-sized blast cells. When the neoplasm involves predominantly the bone marrow and the peripheral blood, it is called T acute lymphoblastic leukemia. When it involves nodal or extranodal sites it is called T lymphoblastic lymphoma. (WHO, 2001)|NCI|N|
C1301361|A clonal B-cell lymphoproliferative disorder arising as a result of post-transplant immunosuppression therapy. It is characterized by destructive infiltration of lymph nodes and extranodal sites by a polymorphic B-cell infiltrate composed of small and medium sized lymphocytes, immunoblasts, and plasma cells. In some cases, reduction of the immunosuppression therapy may lead to regression of the lesions. In other cases the lesions may progress to lymphoma.|NCI|N|
C1301362|Primary cutaneous anaplastic large cell lymphoma (C-ALCL) is a rare T-cell non-Hodgkin lymphoma that affects the skin and generally shows no extracutaneous involvement at presentation. It belongs to the spectrum of primary cutaneous CD30+ lymphoproliferative disorders along with lymphomatoid papulosis (see this term) with which it shares overlapping clinical and histopathologic features.|ORDO|N|
C1301363|A rare hematologic neoplasm characterized by origin from precursors of plasmacytoid dendritic cells, with frequent cutaneous, bone marrow, and lymph node involvement, as well as leukemic dissemination. Most common clinical presentation is with asymptomatic solitary or multiple skin lesions (either isolated purplish nodules, isolated bruise-like papules, or disseminated purplish nodules/macules/papules), although some patients may present with leukemia. Skin biopsy shows a diffuse, monomorphous infiltrate of medium-sized blast cells resembling either lymphoblasts or myeloblasts, with massive involvement of the dermis. The clinical course is aggressive, and age has an adverse impact on prognosis.|ORDO|N|
C1301364|A rare dendritic cell tumor characterized by a neoplasm composed of spindled to ovoid cells with phenotypic features similar to those of normal indeterminate cells. The tumor cells consistently express S100 protein and CD1a, while langerin, specific B- and T-cell markers, CD30, the histiocytic marker CD163, and the follicular dendritic cell markers CD21, CD23, and CD35 are negative. Birbeck granules are absent on ultrastructural examination. Patients typically present with multiple papules, nodules, or plaques of the skin. Primary lymph node or splenic involvement is less common. Systemic symptoms are usually absent. The clinical course is highly variable.|SNOMEDCT_US|N|
C1301365|An advanced form of systemic mastocytosis (SM) characterized by the abnormal accumulation of neoplastic mast cells (MCs) in one or more extracutaneous organs, mainly the bone marrow, associated with another hematologic neoplasm of non MC nature.|ORDO|N|
C1301422|A localized infection of mucous membranes or skin caused by toxigenic strains of CORYNEBACTERIUM DIPHTHERIAE. It is characterized by the presence of a pseudomembrane at the site of infection. DIPHTHERIA TOXIN, produced by C. diphtheriae, can cause myocarditis, polyneuritis, and other systemic toxic effects.|MSH|N|
C1301509|Severe reduction of the ability to see. On the 6m visual acuity scale, severe reduction is defined as less than 6/60 but at least 3/60. On the 20ft visual acuity scale, severe reduction is defined as less than 20/200 but at least 20/400. On the decimal visual acuity scale, severe reduction is defined as less than 0.1 but at least 0.05.|HPO|N|
C1301510|Moderate reduction of the ability to see. On the 6m visual acuity scale, moderate reduction is defined as less than 6/18 but at least 6/60. On the 20ft visual acuity scale, moderate reduction is defined as less than 20/70 but at least 20/200. On the decimal visual acuity scale, moderate reduction is defined as less than 0.3 but at least 0.1.|HPO|N|
C1301526|Ocular pain which may be very intense, accompanied by corneal epithelium damage, conjunctival injection, lacrimation, blepharospasm, photophobia and hazy vision following corneal edema caused by overwear of contact lenses, principally the PMMA type.|NCI|N|
C1301533|Herpes simplex (HSV) stromal keratitis is an infectious ocular disease of either necrotizing or non-necrotizing form, due to an HSV infection, and characterized by corneal stromal necrosis, inflammation, ulceration and infiltration by leukocytes. Corneal perforation and blindness can also occur in severe cases.|ORPHANET|N|
C1301536|Device in the natural or original position or place.|SNOMEDCT_US|N|
C1301552|Perioperative nursing care reflects the uniqueness of each patient and considers the patient''s social or economic status (e.g., SDOH), personal attributes of lifestyle, culture, ethnicity, or level of health.|PNDS|N|
C1301569|Perioperative nursing care considers the patient''s personal privacy, confidentiality, and security within the perioperative environment are maintained.|PNDS|N|
C1301596|Perioperative nursing care considers the treatment and care the patient receives is consistent with their decision to chose or refuse care (i.e., individualized to their wishes).|PNDS|N|
C1301603|Perioperative nursing care is consistent and comparable regardless of the setting and from the appropriate care providers.|PNDS|N|
C1301612|The patient and designated support person communicate an understanding of pain management (e.g., pain assessment methods, knowledge of pharmacologic and non-pharmacologic methods of pain management, need to report pain in a timely manner).|PNDS|N|
C1301624|A symptom or medical condition that makes a particular treatment or procedure inadvisable because a person is likely to have a bad reaction.|NCI|N|
C1301751|A subjective response indicating that something has or had no effect.|NCI|N|
C1301937|A deformity of foot and ankle that has different subtypes that are talipes equinovarus, talipes equinovalgus, talipes calcaneovarus and talipes calcaneovalgus.|HPO|N|
C1302264|Features of tetralogy of Fallot with either rudimentary ridges or the complete absence of pulmonic valve tissue.|HPO|N|
C1302313|The loss or lack of continuation of subject participation after a study has officially closed.|NCI|N|
C1302363|A morphologic finding indicating the presence of dysplastic glandular epithelial cells in the colonic mucosa. There is no evidence of invasion.|NCI|N|
C1302392|A neoplasm that arises from the glandular epithelium of the small intestine. It is a polypoid or flat circumscribed lesion. Morphologically, it is characterized by a proliferation of neoplastic glandular cells and it is associated with dysplasia. According to the growth pattern, it may be classified as tubular, villous, or tubulovillous.|NCI|N|
C1302401|An adenoma that arises from the colon or rectum. The group of colorectal adenomas includes tubular, villous, and tubulovillous adenomas, traditional serrated adenomas, sessile serrated adenomas/polyps, and familial adenomatous polyposis.|NCI|N|
C1302530|An invasive prostate carcinoma characterized by the presence of malignant cells with squamous differentiation. There is no evidence of glandular differentiation.|NCI|N|
C1302539|A human papillomavirus-related neoplasm that arises from the vagina. It is characterized by papillomatosis, acanthotic changes, and hyperkeratosis. Koilocytosis is usually present.|NCI|N|
C1302540|A term that refers to clinicopathologic findings related to lymphomas.|NCI|N|
C1302547|An indolent, mature B-cell neoplasm composed of small, round B-lymphocytes. When the bone marrow and peripheral blood are involved, the term chronic lymphocytic leukemia is used. The term small lymphocytic lymphoma is restricted to cases which do not show leukemic involvement of the bone marrow and peripheral blood.|NCI|N|
C1302569|A teratoma that arises from the ovary and is characterized by the presence of tissues derived exclusively from one embryonic germ cell layer.|NCI|N|
C1302645|A discrete abnormal tissue mass that protrudes into the lumen of the small intestine and is attached to the intestinal wall either by a stalk, pedunculus, or a broad base.|HPO|N|
C1302652|An adenoma that arises from the rectum. The group of rectal adenomas includes tubular, villous, and tubulovillous adenomas, traditional serrated adenomas, sessile serrated adenomas/polyps, and familial adenomatous polyposis.|NCI|N|
C1302712|A hamartoma characterized by localized malformation of one or more of the skin appendages; including sweat glands, sebaceous glands, and hair follicles.|NCI|N|
C1302724|A hamartoma (tissue malformation consisting of an abnormal mixture of constitutive components) originating in the skin.|HPO|N|
C1302746|A benign or malignant, primary or metastatic neoplasm affecting the melanocytes.|NCI|N|
C1302749|A hamartomatous lesion which is present at birth.|NCI|N|
C1302753|A rare rheumatologic disease characterized by sudden onset of symmetric inflammatory distal polyarthritis and multiple firm cutaneous nodules with predilection for the upper and lower extremities. Patients often develop sclerodactyly and joint contractures. Skin biopsy shows fibroblastic proliferation in a matrix of thickened collagen fibers, with loss of elastic fibers and no mucin deposition.|ORDO|N|
C1302772|Cutaneous lymphoma is a heterogeneous entity with respect to its clinical and pathological features, evolutive profile, prognosis, molecular aetiology and response to therapy. These specifications have been taken into account in recent classifications, which have placed particular importance on the prognostic implications of these different entities.|ORDO|N|
C1302773|A precancerous neoplastic process characterized by the presence of mild dysplastic cytological changes which are usually present in the lower part of the squamous epithelium. Representative examples include the low grade esophageal squamous intraepithelial neoplasia, low grade cervical squamous intraepithelial neoplasia, low grade vaginal intraepithelial neoplasia, and low grade vulvar intraepithelial neoplasia.|NCI|N|
C1302790|A syndrome characterized by the presence of congenital abnormalities that affect more than one organ or system.|NCI|N|
C1302808|A rare soft tissue tumor characterized by a benign subcutaneous lesion composed of oval-to-spindle shaped myoid appearing cells with a tendency for concentric perivascular growth. The tumor usually presents as a painless, slowly growing nodule, which may be solitary or appear as multiple lesions, which then arise metachronously and usually involve a particular anatomic region. Recurrence after surgical excision may occur in poorly circumscribed tumors. Malignancy is very rare.|ORDO|N|
C1302836|A benign hamartomatous lesion composed predominantly of adipose tissue.|NCI|N|
C1302839|A rare epidermal disease characterized by multiple, usually asymptomatic, yellowish to flesh colored hyperkeratotic papules and plaques on the palms and soles, with a preference for the palmar and plantar margins. Histological examination shows pronounced orthohyperkeratosis overlying a crateriform depression in the epidermis, with hypergranulosis and mild acanthosis, while elastorrhexis is absent. The lesions appear in the second or third decade of life and gradually increase in number over several years. The condition may be sporadic or familial.|ORDO|N|
C1302848|A rare nevus characterized by single or multiple non-inflammatory verrucous skin lesions composed of keratinocytes, often present from birth, and distributed along the lines of Blaschko. Histologically, the lesions show features of epidermolytic hyperkeratosis with perinuclear vacuolization of keratinocytes of the upper epidermis with coarse keratohyaline granules. There is no extra-cutaneous involvement. Affected individuals are at risk of parenting a child with bullous ichthyosiform erythroderma.|ORDO|N|
C1302864|An adenocarcinoma with eccrine differentiation arising from the sweat glands. It includes the following subtypes: ductal eccrine adenocarcinoma, papillary eccrine carcinoma, and eccrine porocarcinoma.|NCI|N|
C1302994|A rare neuro-ophthalmological disease characterized by dysfunction of the ipsilateral lateral rectus muscle with esotropia in primary position, limited or no abduction of the eyeball, and compensatory horizontal face turn toward the palsied eye. The condition commonly resolves spontaneously.|ORDO|N|
C1302995|Congenital fibrosis of the extraocular muscles (CFEOM) is a disorder of the nervous system that affects use of the muscles that surround the eyes (extraocular muscles). These muscles control eye movement and the direction of the eyes (for example, looking straight ahead). CFEOM impairs control of these muscles. As a result, affected individuals are unable to move their eyes normally. Most people with this condition have difficulty looking upward, and their side-to-side eye movement may also be limited. The eyes may look in different directions (strabismus). Instead of moving their eyes, affected individuals may need to turn their head to track moving objects. Additionally, most people with CFEOM have droopy eyelids (ptosis), which further limits their vision.\n\nResearchers have identified several forms of CFEOM, designated CFEOM1, CFEOM2, CFEOM3, and Tukel syndrome (sometimes called CFEOM4). The specific problems with eye movement vary among the types, and some types are associated with additional signs and symptoms. People with CFEOM1 and CFEOM2 have only the eye problems described above. In CFEOM1, the eyes typically point downward, whereas in CFEOM2, the eyes usually turn outward.\n\nCFEOM3 can include additional neurological problems, such as intellectual disability; difficulty with social skills; a smaller-than-normal head size (microcephaly); muscle weakness in the face; nonfunctioning vocal cords; and a set of symptoms called Kallmann syndrome, which features delayed or absent puberty and an impaired sense of smell. Some affected individuals develop pain, weakness, or a decreased ability to feel sensations in the limbs (peripheral neuropathy), which can begin in childhood or adulthood.\n\nBrain abnormalities can also occur in people with CFEOM3. Some have abnormal development of the white matter, which is brain tissue containing nerve cell fibers (axons) that transmit nerve impulses. A particular form of CFEOM3, known as CFEOM3 with polymicrogyria, is characterized by abnormal development of the brain, in which the folds and ridges on the surface of the brain are smaller and more numerous than usual.\n\nTukel syndrome is characterized by missing fingers (oligodactyly) and other hand abnormalities in addition to problems with eye movement.|MedlinePlus Genetics|N|
C1302999|Isolated ankyloblepharon filiforme adnatum (AFA) is characterised by the presence of single or multiple thin bands of connective tissue between the upper and lower eyelids, preventing full opening of the eye. Several cases have been reported. It can occur sporadically or following an autosomal dominant transmission pattern. In some cases, AFA can be associated with other disorders, such as trisomy 18. The bands should be removed to avoid amblyopia and this can easily be performed in the neonatal period by cutting with tissue scissors.|ORDO|N|
C1303000|Tarsal kink syndrome is a rare congenital malformation of the tarsus that causes entropion characterized by blepharospasm and absence of an upper eyelid fold that may lead to corneal ulceration caused by the folded edge of the upper tarsus or the inturned eyelashes if not corrected by surgery.|ORDO|N|
C1303001|Euryblepharon is a congenital eyelid anomaly characterized by horizontal enlargement of the palpebral fissure. The eyelid is shortened vertically compared with the horizontal dimension, with associated lateral canthal malpositioning and lateral ectropion abnormally wide lid opening.|HPO|N|
C1303002|A type of epicanthus in which a primarily upper lid fold is present.|HPO|N|
C1303003|A fold of skin starting at or just below the medial aspect of the lower lid and arching upward to cover, extend in front of and lateral to the medial canthus.|HPO|N|
C1303004|A type of epicanthus in which a medial vertical fold is present between upper and lower lids.|HPO|N|
C1303007|The presence of whitish spots in a ring-like arrangement at the periphery of the iris.|HPO|N|
C1303009|Inherited congenital microcoria, also referred to as congenital miosis, is characterized by bilateral small pupils (diameter less than 2 mm) that result from an underdevelopment of the dilator pupillae muscle of the iris (Holth and Berner, 1923; Simpson and Parsons, 1989). Iris transillumination defects are a constant feature. The pupil dilates poorly or not at all in response to topically administered mydriatic drugs. The disorder is transmitted as an autosomal dominant trait with complete penetrance and is associated with goniodysgenesis and glaucoma (Tawara and Inomata, 1983; Mazzeo et al., 1986; Toulemont et al., 1995).|OMIM|N|
C1303012|Congenital ectropion uveae is a rare, genetic, non-syndromic developmental defect of the eye characterized by the presence of iris pigment epithelium on the anterior surface of the iris, anterior insertion of the iris, angle dysgenesis and progressive open-angle glaucoma (the latter may present in infancy or may develop later in life). Patients may manifest with headaches, ocular pain, photophobia, and redness, watering and/or swelling of the eye. It can often be associated with neurofibromatosis and less commonly with other ocular abnormalities.|ORDO|N|
C1303073|Nicolaides-Baraitser syndrome (NCBRS) is characterized by sparse scalp hair, prominence of the inter-phalangeal joints and distal phalanges due to decreased subcutaneous fat, characteristic coarse facial features, microcephaly, seizures, and developmental delay / intellectual disability. Seizures are of various types and can be difficult to manage. Developmental delay / intellectual disability (ID) is severe in nearly a half, moderate in a third, and mild in the remainder. Nearly a third never develop speech or language skills.|GeneReviews|N|
C1303076|Abnormal tortuous (i.e., twisted) form of the carotid arteries.|HPO|N|
C1304191|An autoimmune form of urticaria (disease).|MONDO|N|
C1304198|A disorder characterized by episodes of swelling under the skin (angioedema) and an elevated number of the white blood cells known as eosinophils (eosinophilia). During these episodes, symptoms of hives (urticaria), fever, swelling, weight gain and eosinophilia may occur. Symptoms usually appear every 3-4 weeks and resolve on their own within several days. Other cells may be elevated during the episodes, such as neutrophils and lymphocytes. Although the syndrome is often considered a subtype of the idiopathic hypereosinophilic syndromes, it does not typically have organ involvement or lead to other health concerns.|MONDO|N|
C1304242|A rare primary cutaneous amyloidosis characterized by familial occurrence of lichen and/or macular amyloidosis due to fibrillary degeneration and apoptosis of basal keratinocytes, followed by conversion of filamentous masses into amyloid material in the papillary dermis. Patients typically present with a pruritic eruption of grouped hyperkeratotic papules, which may coalesce to form hyperkeratotic plaques, with a predilection for the lower limbs (lichen amyloidosis), or with hyperpigmented macules, sometimes with a reticulate pattern, most commonly arising on the back, chest or interscapular areas (macular amyloidosis).|ORDO|N|
C1304295|A rare but aggressive type of basal skin carcinoma. It is characterized by the presence of a meshwork of stellate tumor cells. It occurs most commonly in the nose and ears.|NCI|N|
C1304296|A variant of basal cell carcinoma morphologically characterized by the presence of thin strands of basaloid cells forming a reticulate pattern.|NCI|N|
C1304297|A rare type of basal cell carcinoma. It is characterized by multiple tiny cysts lined by infundibular epithelium.|NCI|N|
C1304299|A variant of basal cell carcinoma with the architectural features of a nodular basal cell carcinoma. It is characterized by the formation of keratin (horn cysts) in the center of the tumor islands. Dystrophic calcification is frequently present.|NCI|N|
C1304300|A basal cell carcinoma of the skin that often appears as elevated nodules which may become ulcerated.|NCI|N|
C1304306|A carcinoma that arises from the basal cells and has metastasized to another anatomic site.|NCI|N|
C1304307|The reemergence of basal cell carcinoma after a period of remission.|NCI|N|
C1304404|A malignant vascular neoplasm arising from blood vessels and lymphatics of the skin.|NCI|N|
C1304495|Renin-angiotensin-aldosterone system (RAAS)-blocker induced angioedema (RAE) is a type of acquired angioedema (AAE) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.|MONDO|N|
C1304501|Linear and whorled hypermelanosis (LWNH) is a benign skin condition characterized by onset in infancy of hyperpigmented regions composed of small light brown spots that coalesce with age and follow the lines of Blaschko on the trunk and limbs. The soles, palms, face, and mucous membranes are spared. The lesions are asymptomatic and progress with age; affected individuals have no accompanying extradermal features. There is no previous history of inflammation on affected areas (summary by Kalter et al., 1988).|OMIM|N|
C1304507|A rare hemangioma occurring mainly in middle-aged adults. The most common location is in the trunk. The lesions are small, asymptomatic, and bluish. They are composed of irregular, dilated, congested thin-walled vascular channels with scant smooth muscle in a sinusoidal or sieve-like pattern. (WHO 2018)|NCI|N|
C1304508|Spindle cell hemangioma (SCH), also known as spindle cell hemangioendothelioma, is a rare benign vascular tumor either solitary or multiple, characterized by cavernous blood vessels separated by spindle cells reminiscent of those in Kaposi?s sarcoma and located in the dermis and subcutis.|ORDO|N|
C1304510|A glomus tumor arising in the finger and usually associated with pain.|NCI|N|
C1304511|A histologically distinctive, cutaneous, benign vascular tumor that is characterized by a solitary or multiple blue-red papules and histologically resembles renal glomeruli.|HPO|N|
C1304512|A rare vascular tumor characterized by a slowly growing lesion with predominant involvement of the skin and subcutaneous tissue of the distal extremities. Distinctive arborizing blood vessels lined by endothelial cells with characteristic hobnail morphology are a typical feature. Local recurrences are frequent unless wide local excision is performed, while metastasis is rare.|ORDO|N|
C1304513|A rare vascular tumor characterized by a poorly circumscribed, infiltrative nodular lesion with vascular differentiation, centered in the dermis and subcutis. The tumor is composed of histologically benign, intermediate, and malignant components. Typical is an admixture of different components which include epithelioid and retiform hemangioendothelioma, spindle cell hemangioma, angiosarcoma-like areas, and benign vascular lesions. Predilection sites are the distal extremities. Many patients have a history of lymphedema. Local recurrence is frequent, while metastasis is rare.|ORDO|N|
C1304514|A reactive, painless lesion which is characterized by a pseudosarcomatous proliferation of fibroblasts and myofibroblasts usually in the deep subcutaneous tissue. It occurs mainly around the limb girdles, sacral region, and greater trochanter. It affects mainly elderly patients and sometimes is associated with physical immobility. Local excision is usually curative.|NCI|N|
C1304517|A rhabdoid tumor which arises in the soft tissues. It occurs in infants and children and may be associated with loss of chromosome 22. It is characterized by the presence of cells with a large eccentric nucleus, prominent nucleolus, and abundant cytoplasm.|NCI|N|
C1305143|A chromosomal abnormality in which the chromosomal number is greater than the normal diploid number.|NCI|N|
C1305215|Bone fracture in the radius, ulna, or wrist.|HPO|N|
C1305256|An uncommon lipoma characterized by prominent vascularity that invades the surrounding deep tissue.|NCI|N|
C1305409|An adenoma characterized by increased cellularity and nuclear atypia without evidence of vascular or capsular invasion. A representative example is thyroid gland atypical follicular adenoma.|NCI|N|
C1305430|classical complement pathway is the sequential activation of complement, initiated by antigen-antibody complex and the binding of complement factor C1q to the Fc region of the antibody; alternative complement pathway is the complement activation sequence initiated by the activation of complement factor C3, which is triggered by the interaction of microbial polysaccharides and properdin without participation of an antigen-antibody reaction.|CSP|N|
C1305740|A malocclusion in which maxillary incisor and canine teeth project over the mandibular teeth excessively. The overlap is measured perpendicular to the occlusal plane and is also called vertical overlap. When the overlap is measured parallel to the occlusal plane it is referred to as overjet.|MSH|N|
C1305924|A rare chronic encephalitis developing up to several years after congenital rubella virus infection or rubella infection in childhood, characterized by slowly progressive, wide-spread neurological symptoms, like cognitive decline, cerebellar ataxia, spasticity, and seizures, amongst others. Progredient deterioration of the neurological disease eventually leads to the death of the patient.|ORDO|N|
C1306038|Infection of the lungs with Histoplasma capsulatum. Symptoms may include fever, headache, weakness, chest pain and dry cough. When imaging is done, chest radiographs may show patchy pneumonia involving one or more lobes with adenopathy of the mediastinum or hilum.|HPO|N|
C1306068|Clouding or loss of transparency of the posterior lens capsule, usually following CATARACT extraction.|MSH|N|
C1306122|Oguchi disease is a rare autosomal recessive form of congenital stationary night blindness in which all other visual functions, including visual acuity, visual field, and color vision, are usually normal. A typical feature of the disease is a golden or gray-white discoloration of the fundus that disappears in the dark-adapted state and reappears shortly after the onset of light (Mizuo phenomenon, or Mizuo-Nakamura phenomenon). The course of dark adaptation of rod photoreceptors is extremely retarded, whereas that of cones appears to proceed normally (summary by Fuchs et al., 1995).
Genetic Heterogeneity of Oguchi Disease
Oguchi disease-2 (CSNBO2) is caused by mutation in the rhodopsin kinase gene (GRK1; 180381) on chromosome 13q34.|OMIM|N|
C1306214|A type of pituitary adenoma that produces adrenocorticotropic hormone (ACTH).|HPO|N|
C1306242|A locally infiltrating, non-metastasizing angiomyxoma arising from the pelviperineal region. It may recur following resection|NCI|N|
C1306247|A rare circumscribed, non-encapsulated and grossly pigmented nerve sheath tumor. It is composed of cells with the immunophenotypic and electron microscopic features of Schwann cells which contain melanosomes and are positive for melanoma markers. It usually involves spinal nerve roots but may occur in other locations. It may be associated with PRKAR1A gene mutation and Carney complex. Malignant behavior has been reported in a significant number of patients.|NCI|N|
C1306324|crucial, sudden, or decisive point or situation wherein emotional factors predominate.|CSP|N|
C1306334|Provision of liquid nutrition via a closed container system with a rubber like mouthpiece resembling a nipple.|NCI|N|
C1306459|A malignant tumor at the original site of growth.|NCI|N|
C1306557|Chronic form of venous insufficiency (disease).|MONDO|N|
C1306571|The inability of the liver to perform its normal synthetic and metabolic functions.|NCI|N|
C1306573|A morphologic variant of embryonal rhabdomyosarcoma arising from organs with a mucosal epithelial surface. It is characterized by the formation of a cambium layer in the affected tissue and polypoid nodules within an abundant myxoid stroma.|NCI|N|
C1306574|A morphologic variant of embryonal rhabdomyosarcoma arising from organs with a mucosal epithelial surface. It is characterized by the formation of a cambium layer in the affected tissue and polypoid nodules within an abundant myxoid stroma.|MONDO|N|
C1306587|A life-threatening disorder characterized by delirium, seizures, and neuromuscular changes.|NCI|N|
C1306589|Congenital dyserythropoietic anemia type II (CDA II) is the most common form of CDA (see this term) characterized by anemia, jaundice and splenomegaly and often leading to liver iron overload and gallstones.|ORDO|N|
C1306599|Langerhans cell histiocytosis presenting as a solitary lesion.|NCI|N|
C1306663|Congenital absence of both forearm and hand, bilateral is a rare developmental defect during embryogenesis characterized by a bilateral, transverse absence of the radius and ulna (of varying terminal lengths), as well as all the elements composing the hand.|MONDO|N|
C1306710|An abnormal difference between the left and right sides of the face.|HPO|N|
C1306792|An abrupt onset drug reaction characterized by a red rash that involves the face, neck, and upper torso.|NCI|N|
C1306794|Wound botulism is a rare infectious form of botulism (see this term), a rare acquired neuromuscular junction disease with descending flaccid paralysis due to botulinum neurotoxins (BoNTs), produced after infection of wounds by <i>Clostridium botulinum</i>.|ORDO|N|
C1306804|Thyroiditis associated with painless enlargement of the thyroid gland. It occurs more frequently in females and is characterized by alterations between hyperthyroidism and hypothyroidism and the eventual return to normal thyroid gland function.|NCI|N|
C1306837|The presence of renal cell carcinoma in the renal papilla.|HPO|N|
C1306857|abnormally high globulin content of the blood.|CSP|N|
C1306859|epidemic, highly communicable disease of sudden onset, caused by the epidemic gastroenteritis virus (especially Norwalk agent) which affects all age groups; infection is associated with fever, abdominal cramps, nausea, vomiting, diarrhea, and headache, one or another of which may be predominant.|CSP|N|
C1306889|Disorder caused by the occlusion of the lumen of the peripheral arteries. Causes include atherosclerosis, inflammatory processes, thrombosis, and embolism. The arterial occlusion results in chronic or acute pain usually in the lower limbs due to muscle ischemia.|NCI|N|
C1306893|An abnormality of the placenta, the organ that connects the developing fetus to the uterine wall to enable nutrient uptake, waste elimination, and gas exchange.|HPO|N|
C1313907|An ICD encounter due to underachievement in school.|NCI|N|
C1313908|An ICD encounter due to acculturation difficulty, including migration, social transplantation.|NCI|N|
C1313916|An ICD encounter due to exposure to soil pollution.|NCI|N|
C1313921|An encapsulated accumulation of URINE in the retroperitoneal area. It has the appearance of a cyst (CYSTS). Urinoma is usually caused by URETERAL OBSTRUCTION, renal trauma or perforation of the renal collecting system.|MSH|N|
C1313961|Trichothiodystrophy is a rare autosomal recessive disorder in which patients have brittle, sulfur-deficient hair that displays a diagnostic alternating light and dark banding pattern, called 'tiger tail banding,' under polarizing microscopy. TTD patients display a wide variety of clinical features, including cutaneous, neurologic, and growth abnormalities. Common additional clinical features are ichthyosis, intellectual/developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections. There are both photosensitive and nonphotosensitive forms of the disorder (summary by Faghri et al., 2008).
Sabinas brittle hair syndrome (211390) is another form of nonphotosensitive TTD.
For a discussion of genetic heterogeneity of trichothiodystrophy, see 601675.|OMIM|N|
C1313983|Acute inflammation of the conjunctiva characterized by pink or red color in the eyes.|NCI|N|
C1314665|Abnormally increased serum levels of alkaline phosphatase activity.|HPO|N|
C1314678|A rare odontogenic tumor characterized by aggressive clinical course and local destruction, occurring in mandible more often than in maxilla. The most common symptom is a rapidly progressing painful swelling, but it may present as a benign cystic lesion or as a large, rapidly growing mass with ulceration, bone resorption and teeth mobility, as well. The tumor may metastasize, most commonly to the cervical lymph nodes and the lungs.|ORDO|N|
C1314691|Age of first menstruation. A risk factor for breast cancer|NCI|N|
C1314694|A grade I or grade II astrocytoma. This category includes pilocytic astrocytoma (grade I), subependymal giant cell astrocytoma (grade I), and diffuse astrocytoma (grade II).|NCI|N|
C1314968|An impetigo that is characterized as a form of severe pustular psoriasis occurring in pregnancy.|MONDO|N|
C1317608|A morphologic finding referring to a tumor that has spread along and infiltrated nerve fibers. The presence of perineural invasion by malignant tumor cells may represent a poor prognostic factor.|NCI|N|
C1317977|A morphologic finding that refers to the replacement of a group of one type of epithelial cells (e.g., glandular epithelial cells) to another type of epithelial cells (e.g., squamous epithelial cells).|NCI|N|
C1318020|Herpes simplex (HSV) stromal keratitis is an infectious ocular disease of either necrotizing or non-necrotizing form, due to an HSV infection, and characterized by corneal stromal necrosis, inflammation, ulceration and infiltration by leukocytes. Corneal perforation and blindness can also occur in severe cases.|ORDO|N|
C1318284|The measure of a tumor marker in a given sample.|NCI|N|
C1318386|A determination of the amount of albumin being excreted in a biological specimen over a defined period of time.|NCI|N|
C1318485|Diffuse benign transformation of the hepatic parenchyma into small regenerative nodules with minimal or no fibrosis.|HPO|N|
C1318500|Sporadic nodular enlargement of the thyroid gland that is not associated with changes in thyroid function or malignancy.|NCI|N|
C1318518|A rare congenital disorder of bone resorption characterized by generalized skeletal densification. Bone marrow failure, fractures and visual impairment are the classical features of the disease, which begins in early infancy or in fetal life. It results from the failure of osteoclasts to resorb immature bone. This leads to abnormal bone marrow cavity formation and to the clinical signs and symptoms of bone marrow failure. It is accompanied by hepatosplenomegaly due to compensatory extramedullary hematopoiesis. The disease is heterogeneous. Over 50% of cases are due to mutations in the TCIRG1 gene and another 10% are due to mutations in the CLCN7 gene. A small number of patients have been described with mutations in the OSTM1 gene. Transmission is autosomal recessive.|SNOMEDCT_US|N|
C1318520|A histopathological finding characterized by inflammation of the arterial and/or capillary and/or venous blood vessels, leading to a change in the vascular wall as a whole.|HPO|N|
C1318533|Secondary polycythemia is an elevated absolute red blood cell mass caused by enhanced stimulation of red blood cell production by an otherwise normal erythroid lineage that may be congenital or acquired (congenital secondary polycythemia and acquired secondary polycythemia; see these terms).|ORDO|N|
C1318543|A tumor usually arising in the synovium of joints, bursa or tendon sheath. It is characterized by the presence of mononuclear cells, multinucleated osteoclast-like giant cells, hemosiderin-laden macrophages, foam cells, and an inflammatory infiltrate. According to the growth pattern, it is classified as localized or diffuse.|NCI|N|
C1318550|A severe type of RAEB characterized by cytopenias and the following hematological parameters: uni- or multilineage dysplasia, 5% to 9% blasts in bone marrow or 2% to 4% in peripheral blood, and no Auer rods (abnormal, needle-shaped or round inclusions in the cytoplasm of myeloblasts and promyelocytes). Median survival has been reported to be 18 months.|ORDO|N|
C1318551|A very severe type of RAEB characterized by cytopenias and the following hematological parameters: uni- or multilineage dysplasia, 10% to 19% blasts in bone marrow or 5% to 19% in peripheral blood, variable presence of Auer rods (abnormal, needle-shaped or round inclusions in the cytoplasm of myeloblasts and promyelocytes). Median survival has been reported to be 18 months.|ORDO|N|
C1318552|Bleeding into the epidural space that is not associated with physical trauma.|NCI|N|
C1318558|A melanocytic nevus that is present at birth. It may present as a small macular, papular, or plaque-like lesion or as a large brown to black hairy skin lesion.|NCI|N|
C1318562|A benign tumor made up of mostly myofibroblasts that appears almost exclusively on the digits of the hands and feet, rarely involving the thumb or big toe. The lesion displays a proliferation of bland intradermal spindle cells arranged in whorls, fascicles, or a storiform pattern in a collagenous background of varying degrees. Also usually present are perpendicular tumor cell fascicles that extend to the epidermis. The small intracytoplasmic inclusions are said to appear similar to red blood cells. The inclusion bodies have been shown to be made up of densely packed vimentin and actin filaments. The tumor often causes a dome-shaped elevation of the overlying structures, forming a protuberant or polypoid nodule. The overlying epidermis can display a host of changes, including acanthosis, hyperkeratosis, parakeratosis, rete ridge flattening, entrapment of adnexal structures, and, rarely, ulceration.|HPO|N|
C1318963|The state of having been made ready or prepared for use or action.|NCI|N|
C1318973|An infectious process in which the bacteria Staphylococcus aureus is present.|NCI|N|
C1319016|A type of nephrogenic rest usually representing single lesions within the renal lobe, renal sinus, or calyceal walls.|HPO|N|
C1319017|A type of nephrogenic rest associated with multiple lesions in the periphery of the renal lobe.|HPO|N|
C1319050|Capacity of a community to collectively problem solve to achieve community goals|NOC|N|
C1319051|Incidence of violent acts compared with local, state, or national values|NOC|N|
C1319055|Community preparedness to respond to a natural or man-made calamitous event|NOC|N|
C1319060|Extent of positive perception of access to nursing staff, supplies, and equipment needed for care|NOC|N|
C1319061|Extent of positive perception of nursing staff''s concern for the client|NOC|N|
C1319062|Extent of positive perception of integration of cultural beliefs, values, and social structures into nursing care|NOC|N|
C1319063|Extent of positive perception of nursing staff''s knowledge and expertise used in providing care|NOC|N|
C1319065|A male individual who has had his testicles removed.|NCI|N|
C1319066|A female individual who has had her ovaries removed.|NCI|N|
C1319127|Severity of manifested physical or mental tension resulting from factors that alter an existing equilibrium|NOC|N|
C1319128|Severity of manifested apprehension, tension, or uneasiness arising from an identifiable source in a child from 1 year through 17 years of age|NOC|N|
C1319138|Personal actions to maintain proper body alignment and to prevent muscular skeletal strain|NOC|N|
C1319141|Extent of understanding conveyed about safely caring for a child from 1 year through 17 years of age|NOC|N|
C1319142|Extent of understanding conveyed about promotion of a healthy pregnancy and prevention of complications|NOC|N|
C1319143|Extent of understanding conveyed about sexual development and responsible sexual practices|NOC|N|
C1319144|Extent of understanding conveyed about fertility testing and the conditions that affect conception|NOC|N|
C1319145|Extent of understanding conveyed about maternal health in the period following birth of infant|NOC|N|
C1319146|Extent of understanding conveyed about caring for a baby from birth to first birthday|NOC|N|
C1319147|Extent of understanding conveyed about diabetes, its treatment, and the prevention of complications|NOC|N|
C1319148|Extent of understanding conveyed about prevention of unintended pregnancy|NOC|N|
C1319149|Extent of understanding conveyed about maternal health prior to conception to insure a healthy pregnancy|NOC|N|
C1319150|Outcomes that describe an individual''s understanding in applying information to optimize health|NOC|N|
C1319152|Extent of understanding conveyed about provision of a nurturing and constructive environment for a child from 1 year through 17 years of age|NOC|N|
C1319153|Extent of understanding conveyed about proper body alignment, balance, and coordinated movement|NOC|N|
C1319154|Extent of understanding conveyed about prevention of falls|NOC|N|
C1319155|Extent of understanding conveyed about maintenance of an ostomy for elimination|NOC|N|
C1319156|Extent of understanding conveyed about heart disease, its treatment, and the prevention of disease progression and complications|NOC|N|
C1319159|Severity of signs and symptoms of injuries to the body|NOC|N|
C1319165|Physical, psychospiritual, sociocultural, and environmental ease with the impending end of life|NOC|N|
C1319166|Severity of adverse physical, emotional, and social responses|NOC|N|
C1319167|Severity of reported adverse physical and emotional responses due to declining hormonal levels|NOC|N|
C1319169|Severity of observed or reported disruptive effects of chronic nausea, retching, and vomiting on daily functioning|NOC|N|
C1319170|Severity of signs and symptoms of nausea, retching, and vomiting|NOC|N|
C1319171|Therapeutic and adverse effects of prescribed medication|NOC|N|
C1319174|Extent to which maternal well-being is within normal limits from conception to the onset of labor|NOC|N|
C1319175|Extent to which maternal well-being is within normal limits from onset of labor to delivery|NOC|N|
C1319176|Evidence that the victim is no longer receiving substandard or omitted care|NOC|N|
C1319177|Extent of healing following physical or psychological abuse that may include sexual or financial exploitation|NOC|N|
C1319179|Capacity of a family to develop strategies for optimal functioning when a member has a chronic illness or disability|NOC|N|
C1319181|Capacity of a family to positively adapt and function following a significant adversity or crisis|NOC|N|
C1319203|Physiologic response to energy-consuming movements with daily activities|NOC|N|
C1319204|Extent to which fetal signs are within normal limits from conception to the onset of labor|NOC|N|
C1319205|Extent to which fetal signs are within normal limits from onset of labor to delivery|NOC|N|
C1319207|Milestones of physical, cognitive, and psychosocial progression by 1 month of age|NOC|N|
C1319208|Ability of muscles to work together voluntarily for purposeful movement|NOC|N|
C1319211|Readiness of a patient to relocate from a health care institution to living independently|NOC|N|
C1319212|Readiness of a patient to relocate from a health care institution to a lower level of supported living|NOC|N|
C1319213|Open, clear tracheobronchial passages for air exchange|NOC|N|
C1319214|Severity of signs and symptoms of internal or external bleeding|NOC|N|
C1319218|Severity of signs and symptoms of excess intracellular and extracellular fluids|NOC|N|
C1319220|Severity of systemic hypersensitive immune response to a specific environmental (exogenous) antigen|NOC|N|
C1319221|Severity of signs and symptoms of infection during the first 28 days of life|NOC|N|
C1319226|Severity of melancholic mood and loss of interest in life events|NOC|N|
C1319227|Severity of manifested apprehension, tension, or uneasiness arising from an identifiable source|NOC|N|
C1319289|Severity of localized hypersensitive immune response to a specific environmental (exogenous) antigen|NOC|N|
C1319314|A malignant tumor that arises from the transitional (urothelial) epithelial cells lining the urinary tract from the renal calyces to the ureteral orifice.|HPO|N|
C1319315|A malignant epithelial tumor with a glandular organization that originates in the large intestine.|HPO|N|
C1319317|A squamous cell carcinoma that arises from the pharynx.|NCI|N|
C1319441|Body mass index (kg/m²) equal to or greater than 40.|SNOMEDCT_US|N|
C1319466|Barber-Say syndrome (BBRSAY) is a rare congenital condition characterized by severe hypertrichosis, especially of the back, skin abnormalities such as hyperlaxity and redundancy, and facial dysmorphism, including macrostomia, eyelid deformities, ocular telecanthus, abnormal and low-set ears, bulbous nasal tip with hypoplastic alae nasi, and low frontal hairline (summary by Roche et al., 2010).|OMIM|N|
C1319853|A type of asthma in which aspirin and other nonsteroidal anti-inflammatory drugs (NSAIDs) that inhibit cyclooxygen-ase 1 (COX-1) exacerbate bronchoconstriction.|HPO|N|
C1319899|A particular treatment is not tolerated.|NCI|N|
C1320202|Nipah virus disease, caused by the Nipah virus, is a recently discovered zoonotic disease characterized by fever, constitutional symptoms and encephalitis, sometimes accompanied by respiratory illness.|ORDO|N|
C1320303|The date on which a visit occurred.|NCI|N|
C1320317|A rare bacterial infectious disease caused by the tick-borne bacterium &lt;i&gt;Rickettsia africae&lt;/i&gt;, characterized by acute onset of fever accompanied by myalgia, localized lymphadenitis, and a papulovesicular rash. In most cases at least one, sometimes multiple, inoculation eschars are observed. Clustering of cases is frequent.|ORPHANET|N|
C1320371|Indicator of paid employment, e.g., letter of hire, contract, employer letter; copy of pay check or pay stub.CHAR(13)|HL7V3.0|N|
C1320408|Collection and discharge of urine|NOC|N|
C1320453|Stage 0 includes: (Tis, N0, M0). Tis: Carcinoma in situ. N0: No regional lymph node metastasis. M0: No distant metastasis. FIGO no longer includes stage 0. (AJCC 7th ed.)|NCI|N|
C1320468|Abnormally persistent clusters of embryonal cells, representing microscopic malformations (dysplasias) of the developing kidney.|HPO|N|
C1320471|A congenital mesoblastic nephroma characterized by increased cellularity, sheet-like proliferation of fibroblastic cells, and increased mitotic activity. Necrotic changes are commonly present.|NCI|N|
C1320472|A congenital mesoblastic nephroma characterized by the presence of classic and cellular areas.|NCI|N|
C1320474|Resistance of the extensor muscles of the neck to being bent forwards (i.e., impaired neck flexion) as a result of muscle spasm of the extensor muscles of the neck. Nuchal rigidity is not a fixed rigidity. Nuchal rigidity has been used as a bedside test for meningism, although its sensitivity for this purpose has been debated.|HPO|N|
C1320640|Degeneration of the peripheral retina.|NCI|N|
C1320743|The type of equipment used.|NCI|N|
C1320835|Drug-induced fever.|MSH|N|
C1320924|Impairment or altered function of related components of the body framework system that is characterized in early stages by one or more of the following: pain, erythema, a palpable sense of relative warmth, moisture and bogginess, vasodilation, edema, tenderness, and tissue contraction.|SNOMEDCT_US|N|
C1320925|Impairment or altered function of long standing duration of related components of the body framework system characterised by one or more of the following: itching, paraesthesia, a palpable sense of tissue dryness, coolness, tissue contracture, fibrosis, tenderness and pallor.|SNOMEDCT_US|N|
C1320978|Overall physical, psychological, and social functioning of a school-age child|NOC|N|
C1320979|Overall physical, psychological, social, and spiritual functioning of an adult 18 years or older|NOC|N|
C1320987|Capacity of a family to provide a supportive milieu as characterized by family member relationships and goals|NOC|N|
C1320988|Capacity of family members to maintain cohesion and emotional bonding|NOC|N|
C1320990|General state of well-being of a community or population|NOC|N|
C1320992|Extent of positive perception of information exchanged between client and nursing staff|NOC|N|
C1320993|Extent of positive perception of coordination of care as the client moves from one care setting to another|NOC|N|
C1320994|Extent of positive perception of nursing assistance to achieve mobility and self-care|NOC|N|
C1320995|Extent of positive perception of nursing care to maintain body functions and cleanliness|NOC|N|
C1320996|Extent of positive perception of living environment, treatment environment, equipment, and supplies in acute or long-term care settings|NOC|N|
C1320997|Extent of positive perception of protection of a client''s legal and moral rights provided by nursing staff|NOC|N|
C1320998|Extent of positive perception of nursing assistance to cope with emotional issues and perform mental activities|NOC|N|
C1320999|Extent of positive perception of procedures, information, and nursing care to prevent harm or injury|NOC|N|
C1321000|Extent of positive perception of nursing care to relieve symptoms of illness|NOC|N|
C1321001|Extent of positive perception of instruction provided by nursing staff to improve knowledge, understanding, and participation in care|NOC|N|
C1321016|Balance among heat production, heat gain, and heat loss during the first 28 days of life|NOC|N|
C1321018|Severity of patterns of inattention or impulsivity in a child from 1 year through 17 years of age|NOC|N|
C1321019|Safe passage of fluids and/or solids from the mouth to the stomach|NOC|N|
C1321020|Preparation, containment, and posterior movement of fluids and/or solids in the mouth|NOC|N|
C1321021|Safe passage of fluids and/or solids from the mouth to the esophagus|NOC|N|
C1321023|Extent of regeneration of cells and tissues following bone injury|NOC|N|
C1321064|Personal drive and energy to maintain activities of daily living, nutrition, and personal safety|NOC|N|
C1321065|Milestones of physical, cognitive, and psychosocial progression by 5 years of age|NOC|N|
C1321066|Milestones of physical, cognitive, and psychosocial progression from 6 years through 11 years of age|NOC|N|
C1321072|Formation and evacuation of stool|NOC|N|
C1321074|Balance of electrolytes and non-electrolytes in the intracellular and extracellular compartments of the body|NOC|N|
C1321133|Bronchial hemorrhage is a focal bleeding located in the bronchial system. It can be diagnosed by tracheobronchoscopy.|HPO|N|
C1321220|A biphasic neoplasm that arises from the ovary or the testis. It is characterized by the presence of neoplastic germ cells and neoplastic sex cord-stromal cells. It includes the gonadoblastoma and mixed germ cell-sex cord stromal tumor, unclassifiable.|NCI|N|
C1321308|A scotoma (area of diminished vision within the visual field) that surrounds the central fixation point.|HPO|N|
C1321315|Cancer associated retinopathy (CAR) is a paraneoplastic disease of the eye associated with the presence of extraocular malignancy and circulating autoantibodies against retinal proteins.|ORDO|N|
C1321329|An abnormally slow velocity of the saccadic eye movements.|HPO|N|
C1321427|A rare variant of malignant peripheral nerve sheath tumor composed predominantly or exclusively of epithelioid cells.|NCI|N|
C1321489|Lynch syndrome is characterized by an increased risk for colorectal cancer (CRC) and cancers of the endometrium, ovary, stomach, small bowel, urinary tract, biliary tract, brain (usually glioblastoma), skin (sebaceous adenomas, sebaceous carcinomas, and keratoacanthomas), pancreas, and prostate. Cancer risks and age of onset vary depending on the associated gene. Several other cancer types have been reported to occur in individuals with Lynch syndrome (e.g., breast, sarcomas, adrenocortical carcinoma). However, the data are not sufficient to demonstrate that the risk of developing these cancers is increased in individuals with Lynch syndrome.|GeneReviews|N|
C1321523|An electrocardiographic finding of a supraventricular arrhythmia characterized by 3 or more distinct P wave morphologies with an isoelectric baseline, variable PR intervals and no predominant atrial rhythm. The ventricular rate is typically below 100 beats per minute. (CDISC)|NCI|N|
C1321546|A diffuse large B-cell lymphoma variant characterized by the presence of large round, oval, or polygonal cells with bizarre pleomorphic nuclei resembling Hodgkin or Reed-Sternberg cells. It is unrelated to anaplastic large cell lymphoma which is a T-cell non-Hodgkin lymphoma.|NCI|N|
C1321547|T-cell/histiocyte rich large B cell lymphoma (THRLBCL) is a rare variant of diffuse large B-cell lymphoma (DLBCL; see this term), mainly affecting middle-aged men and often not being discovered until an advanced disease stage, with involvement of the spleen, liver and bone marrow occurring at a greater frequency than in DLBCL. It is often difficult to diagnose due to its similarity with other lymphoid diseases such as classic Hodgkin lymphoma and nodular lymphocyte-predominant Hodgkin lymphoma (see these terms) and has an aggressive clinical course.|ORDO|N|
C1321551|Shprintzen-Goldberg syndrome (SGS) is characterized by: delayed motor and cognitive milestones and mild-to-moderate intellectual disability; craniosynostosis of the coronal, sagittal, or lambdoid sutures; distinctive craniofacial features; and musculoskeletal findings including olichostenomelia, arachnodactyly, camptodactyly, pectus excavatum or carinatum, scoliosis, joint hypermobility or contractures, pes planus, foot malposition, and C1-C2 spine malformation. Cardiovascular anomalies may include mitral valve prolapse, secundum atrial septal defect, and aortic root dilatation. Minimal subcutaneous fat, abdominal wall defects, and myopia are also characteristic findings.|GeneReviews|N|
C1321683|A benign, darkly pigmented skin lesion characterized by proliferation of keratinocytes and melanocytes.|NCI|N|
C1321709|A malignant peripheral nerve sheath tumor characterized by the presence of malignant cells that contain melanin and formation of psammoma bodies.|NCI|N|
C1321723|Acute myeloid leukemia occurring as late complication of prior therapy with alkylating agents.|NCI|N|
C1321778|A small round cell tumor confined to a specific area of the thoracic cavity without evidence of spread to other anatomic sites.|NCI|N|
C1321781|A rare malignant skin neoplasm that arises from a benign mixed tumor of the skin (chondroid syringoma).|NCI|N|
C1321860|The division of a ZYGOTE into two parts that are each capable of further development into two distinct individuals, both that have the same genetic makeup.|MSH|N|
C1321861|A non-invasive or invasive adenocarcinoma arising from the neoplastic glandular cells in an adenomatous polyp.|NCI|N|
C1321863|A carcinoma that has papillary growth and invades the wall and/or the surrounding tissues of the organ it originates from.|NCI|N|
C1321865|An astrocytic tumor appearing before the age of twenty one without designation of benign or malignant nor designated location.|NCI|N|
C1321869|Retinoblastoma during childhood that has not spread beyond the eye.|NCI|N|
C1321870|Retinoblastoma during childhood that has spread beyond the eye.|NCI|N|
C1321872|A melanoma that arises from the skin and has metastasized to another anatomic site.|NCI|N|
C1321878|A WHO grade I large cystic tumor that occurs almost exclusively in infants, with a prominent desmoplastic stroma having a neuroepithelial population of neoplastic astrocytes together with a variable neuronal component. It involves the superficial cerebral cortex and leptomeninges, and often attaches to the dura. Although clinically it presents as a large tumor, it generally has a good prognosis following surgical resection. (Adapted from WHO)|NCI|N|
C1321884|Congenital occlusion of the vagina or adhesion of the walls of the vagina causing occlusion.|HPO|N|
C1321897|Stage 0 includes: (Tis, N0, M0) and (Ta, N0, M0). Tis: Carcinoma in situ. Ta: Non-invasive verrucous carcinoma. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th ed.)|NCI|N|
C1321898|A finding indicating the presence of blood in stool. It is the result of gastrointestinal hemorrhage and it may be easily seen in stool or may be identified microscopically.|NCI|N|
C1321904|A malignant neoplasm that affects the sweat glands.|NCI|N|
C1321907|Aplasia of the parathyroid gland.|HPO|N|
C1322018|Stage IV includes: (Any T, Any N, M1). M1: Distant metastasis (excludes metastasis within the peritoneal cavity). (AJCC 6th and 7th eds.)|NCI|N|
C1322252|An extremely rare glial neoplasm occurring in the region of the anterior third ventricle or hypothalamus, which is non-infiltrative and well-circumscribed and presents most frequently in middle-aged women with symptoms of memory loss and headaches and, because of its location, has a poor prognosis due to surgical morbidity.|SNOMEDCT_US|N|
C1322284|A malignant neoplasm that affects the bronchial tree.|NCI|N|
C1322286|A thymoma that has an aggressive clinical course (capsular invasion, infiltration of the surrounding tissues) and can metastasize. Although any morphologic subtype of thymoma may eventually have a malignant clinical course, this term is most often associated with thymoma types B3 and C.|NCI|N|
C1323274|Reference to a chemical group or moiety that can complex or chelate a metal ion.|NCI|N|
C1323363|A process that involves the binding of any member of the tumor necrosis factor family to a cognate receptor. These interactions are involved in regulation of signaling cascades that mediate inflammation, immune cell functions and organogenesis.|NCI|N|
C1325924|The series of molecular signals initiated by the cross-linking of an antigen receptor on a B cell. [GOC:add]|GO|N|
C1325934|The series of molecular signals initiated by the cross-linking of an antigen receptor on a T cell. [GOC:add]|GO|N|
C1325947|The series of molecular signals initiated by glucocorticoid binding to its receptor. [GOC:mah]|GO|N|
C1327004|The chemical reactions and pathways involving L-phenylalanine, the L-enantiomer of 2-amino-3-phenylpropanoic acid, i.e. (2S)-2-amino-3-phenylpropanoic acid. [GOC:jsg, GOC:mah]|GO|N|
C1327133|The production of PEPTIDES or PROTEINS by the constituents of a living organism. The biosynthesis of proteins on RIBOSOMES following an RNA template is termed translation (TRANSLATION, GENETIC). There are other, non-ribosomal peptide biosynthesis (PEPTIDE BIOSYNTHESIS, NUCLEIC ACID-INDEPENDENT) mechanisms carried out by PEPTIDE SYNTHASES and PEPTIDYLTRANSFERASES. Further modifications of peptide chains yield functional peptide and protein molecules.|MSH|N|
C1327201|The chemical reactions and pathways involving retinol, one of the three compounds that makes up vitamin A. [GOC:jl, http://www.indstate.edu/thcme/mwking/vitamins.html, PMID:1924551]|GO|N|
C1327377|Non-enzymatic addition of carbamoyl (-CONH2) on protein or amino acid functional groups from isocyanic acid or CARBAMOYL-PHOSPHATE. Carbamylation may induce a structural change that results in a functional loss and serves as a biomarker for protein aging and disease pathophysiology.|MSH|N|
C1327709|A malignant epithelial neoplasm that arises from the rectosigmoid area and invades through the muscularis mucosa into the submucosa. The vast majority are adenocarcinomas. About 50% of colorectal carcinomas occur in the rectosigmoid area.|NCI|N|
C1327915|A rare inherited bone marrow failure syndrome with manifestation of an isolated and severe decrease in the number of platelets and megakaryocytes during the first years of life that develops into bone marrow failure with pancytopenia later in childhood. The exact prevalence is unknown and less than 100 cases have been reported in the literature. The inheritance pattern is autosomal recessive.|SNOMEDCT_US|N|
C1327916|Dyskeratosis congenita and related telomere biology disorders (DC/TBD) are caused by impaired telomere maintenance resulting in short or very short telomeres. The phenotypic spectrum of telomere biology disorders is broad and includes individuals with classic dyskeratosis congenita (DC) as well as those with very short telomeres and an isolated physical finding. Classic DC is characterized by a triad of dysplastic nails, lacy reticular pigmentation of the upper chest and/or neck, and oral leukoplakia, although this may not be present in all individuals. People with DC/TBD are at increased risk for progressive bone marrow failure (BMF), myelodysplastic syndrome or acute myelogenous leukemia, solid tumors (usually squamous cell carcinoma of the head/neck or anogenital cancer), and pulmonary fibrosis. Other findings can include eye abnormalities (epiphora, blepharitis, sparse eyelashes, ectropion, entropion, trichiasis), taurodontism, liver disease, gastrointestinal telangiectasias, and avascular necrosis of the hips or shoulders. Although most persons with DC/TBD have normal psychomotor development and normal neurologic function, significant developmental delay is present in both forms; additional findings include cerebellar hypoplasia (Hoyeraal Hreidarsson syndrome) and bilateral exudative retinopathy and intracranial calcifications (Revesz syndrome and Coats plus syndrome). Onset and progression of manifestations of DC/TBD vary: at the mild end of the spectrum are those who have only minimal physical findings with normal bone marrow function, and at the severe end are those who have the diagnostic triad and early-onset BMF.|GeneReviews|N|
C1327917|Syndrome is characterized by hematological anomalies (Fanconi anemia, leukemia and lymphoma) often appearing during childhood. Anomalies of the limbs and hands are also present: bifid or hypoplastic thumbs, cutaneous syndactyly and ulnar and radial defects. The syndrome has been described in several families. Transmission is autosomal dominant.|SNOMEDCT_US|N|
C1327918|IVIC syndrome (IVIC) is an autosomal dominant disorder characterized by upper limb anomalies (radial ray defects, carpal bone fusion), extraocular motor disturbances, and congenital bilateral nonprogressive mixed hearing loss. More variable features include heart involvement, mild thrombocytopenia and leukocytosis (before age 50), shoulder girdle hypoplasia, imperforate anus, kidney malrotation, and rectovaginal fistula (summary by Paradisi and Arias, 2007).|OMIM|N|
C1327919|SAMD9L ataxia-pancytopenia (ATXPC) syndrome is characterized by cerebellar ataxia, variable hematologic cytopenias, and predisposition to marrow failure, myelodysplasia, and myeloid leukemia, sometimes associated with monosomy 7. The onset of hematologic abnormalities has been reported as early as age three months. The cytopenias in all cell lineages range from mild to very severe. Onset of neurologic impairment is variable. Nystagmus, dysmetria, increased deep tendon reflexes, and clonus are common. Gait impairment and other neurologic abnormalities are slowly progressive.|GeneReviews|N|
C1327920|A chronic myelogenous leukemia occurring during childhood.|NCI|N|
C1328042|An epithelial neoplasm arising from the thymus. It may be associated with myasthenia gravis, pure red cell aplasia, and hypogammaglobulinemia. It includes thymoma type B1 which is a thymoma of low grade malignant potential, thymoma type B2 which is a thymoma of moderate malignancy, and thymoma type B3 which is also known as well differentiated thymic carcinoma.|NCI|N|
C1328061|A rare myelodysplastic/myeloproliferative neoplasm characterized by clinical, laboratory, and morphological features of both myelodysplastic syndrome and myeloproliferative neoplasm at onset, in the absence of recent cytotoxic or growth factor therapy, and without Philadelphia chromosome, BCR-ABL1 or PCM1-JAK2 fusion, or rearrangement of PDGFRA, PDGFRB, or FGFR1. Cases of a previously well-defined myeloproliferative neoplasm developing dysplastic features are excluded, and the criteria for any other myelodysplastic/myeloproliferative neoplasm, myelodysplastic syndrome, or myeloproliferative neoplasm are not met.|ORDO|N|
C1328252|The most common form of leishmaniasis that is transmitted through the bite of female phlebotomine sand flies or after exposure to leishmania parasites. It is characterized by skin lesions at the site of insect bite which typically develop within weeks or months after exposure. The lesions typically progress from small papules to open sores with raised borders and central ulcers which can be covered with scales or crust.|MONDO|N|
C1328348|A liver disorder caused by primary or secondary defects in the function of the mitochondria in the hepatocytes.|NCI|N|
C1328349|Mitochondrial DNA (mtDNA)-associated Leigh syndrome and NARP (neurogenic muscle weakness, ataxia, and retinitis pigmentosa) are part of a continuum of progressive neurodegenerative disorders caused by abnormalities of mitochondrial energy generation. Leigh syndrome (or subacute necrotizing encephalomyelopathy) is characterized by onset of symptoms typically between ages three and 12 months, often following a viral infection. Decompensation (often with elevated lactate levels in blood and/or CSF) during an intercurrent illness is typically associated with psychomotor retardation or regression. Neurologic features include hypotonia, spasticity, movement disorders (including chorea), cerebellar ataxia, and peripheral neuropathy. Extraneurologic manifestations may include hypertrophic cardiomyopathy. About 50% of affected individuals die by age three years, most often as a result of respiratory or cardiac failure. NARP is characterized by proximal neurogenic muscle weakness with sensory neuropathy, ataxia, and pigmentary retinopathy. Onset of symptoms, particularly ataxia and learning difficulties, is often in early childhood. Individuals with NARP can be relatively stable for many years, but may suffer episodic deterioration, often in association with viral illnesses.|GeneReviews|N|
C1328355|Junctional epidermolysis bullosa 2C (JEB2C), also known as laryngoonychocutaneous syndrome (LOCS), is an autosomal recessive disorder characterized by skin erosions, nail dystrophy, dental anomalies, and excessive vascular granulation tissue of the conjunctiva and larynx. Onset is characterized by a hoarse cry soon after birth. Beginning in infancy, chronic skin ulcers and conjunctival lesions appear. Patients may die in childhood secondary to acute or chronic respiratory obstruction. Long-term survivors have visual loss and often require tracheostomy (McLean et al., 2003).
For a discussion of genetic heterogeneity of the subtypes of JEB, see JEB1A (226650).
Reviews
Has et al. (2020) reviewed the clinical and genetic aspects, genotype-phenotype correlations, disease-modifying factors, and natural history of epidermolysis bullosa.|OMIM|N|
C1328385|A benign, well circumscribed neoplasm that arises from the breast. Representative examples include tubular adenoma and ductal adenoma.|NCI|N|
C1328402|Glioma that has spread from its original site of growth to another anatomic site.|NCI|N|
C1328407|A smaller than normal acetabulum that has insufficient femoral head coverage leading to abnormal hip joint contact pressures, instability and pain.|HPO|N|
C1328409|Rare and often fatal drug complication which affects patients undergoing long-term treatment with high doses of PROPOFOL. It is characterized by METABOLIC ACIDOSIS; HYPERLIPIDEMIA; RHABDOMYOLYSIS; cardiovascular CIRCULATORY COLLAPSE; CARDIAC FAILURE; and KIDNEY FAILURE.|MSH|N|
C1328440|Abnormality of an amino acid metabolic process.|HPO|N|
C1328466|A disorder characterized by an uncomfortable persistent sensation in the area of the laryngopharynx.|NCI|N|
C1328479|A rare neuroendocrine neoplasm of pancreas characterized by a high-grade malignant epithelial tumor with neuroendocrine differentiation. Based on histopathologic appearance, a small cell (composed of diffuse sheets of cells) and a large cell type (showing a nesting/trabecular pattern) are distinguished. Synaptophysin and chromogranin are positive on immunohistochemistry. The Ki-67 proliferation index is typically very high (>60 - 80%). Patients present with back pain, jaundice, and/or non-specific abdominal symptoms. Serum hormone activity is unusual. The tumor is highly aggressive with poor prognosis.|ORDO|N|
C1328491|Bleeding originating from the bile duct.|NCI|N|
C1328504|Prostate carcinoma that grows and continues to spread despite the surgical removal of the testes or medical intervention to block androgen production.|NCI|N|
C1328544|An invasive adenocarcinoma of the breast with a favorable prognosis. It is composed of tubular structures lined by a single layer of epithelium.|NCI|N|
C1328587|A reduction in the circulating levels of all the major classes of immunoglobulin. is characterized by profound decreases in all classes of immunoglobulin with an absence of circulating B lymphocytes.|HPO|N|
C1328588|An inflammatory process affecting the mucous membrane of the rectum.|NCI|N|
C1328618|Impaired ability to recognize letters or numbers drawn by an examiner's fingertip on the patient's skin (the patients eyes are closed or covered throughout this examination).|HPO|N|
C1328756|A pattern of valid appraisal of stressors with cognitive and/or behavioral efforts to manage demands related to well-being, which can be strengthened.|NANDA-I|N|
C1328761|A pattern of cognitive information related to a specific topic, or its acquisition, which can be strengthened.|NANDA-I|N|
C1328773|Change in or modification of the oxygenation of tissues|CCC|N|
C1328812|Socioeconomic status with relatively low income and/or assets (POVERTY) and EDUCATIONAL LEVEL.|MSH|N|
C1328840|Autoimmune lymphoproliferative syndrome (ALPS), caused by defective lymphocyte homeostasis, is characterized by the following: Non-malignant lymphoproliferation (lymphadenopathy, hepatosplenomegaly with or without hypersplenism) that often improves with age. Autoimmune disease, mostly directed toward blood cells. Lifelong increased risk for both Hodgkin and non-Hodgkin lymphoma. In ALPS-FAS (the most common and best-characterized type of ALPS, associated with heterozygous germline pathogenic variants in FAS), non-malignant lymphoproliferation typically manifests in the first years of life, inexplicably waxes and wanes, and then often decreases without treatment in the second decade of life; in many affected individuals, however, neither splenomegaly nor the overall expansion of lymphocyte subsets in peripheral blood decreases. Although autoimmunity is often not present at the time of diagnosis or at the time of the most extensive lymphoproliferation, autoantibodies can be detected before autoimmune disease manifests clinically. In ALPS-FAS caused by homozygous or compound heterozygous (biallelic) pathogenic variants in FAS, severe lymphoproliferation occurs before, at, or shortly after birth, and usually results in death at an early age. ALPS-sFAS, resulting from somatic FAS pathogenic variants in selected cell populations, notably the alpha/beta double-negative T cells (a/ß-DNT cells), appears to be similar to ALPS-FAS resulting from heterozygous germline pathogenic variants in FAS, although lower incidence of splenectomy and lower lymphocyte counts have been reported in ALPS-sFAS and no cases of lymphoma have yet been published.|GeneReviews|N|
C1328843|An autoimmune form of vasculitis.|MONDO|N|
C1328931|Presence of an unusually high number of lentigines (singular|HPO|N|
C1328948|Used to denote the transcription of DNA into RNA. The biochemical machinery includes sequence-specific DNA binding proteins that directly act in the regulation of the transcription process, other protein factors that participate in the assembly of the transcription complex, and RNA polymerase.|NCI|N|
C1331534|An adenoma that arises from the extrahepatic bile ducts. It is classified as papillary, tubular, or tubulopapillary.|NCI|N|
C1331535|A rare adenoma that arises from the intrahepatic biliary tree.|NCI|N|
C1331541|The developmental arrest and architectural distortion of the thymus that results in immunodeficiency.|NCI|N|
C1331543|A sustained temperature of 38C (100.4F) or greater beyond the first 24 hours following birth, or a temperature of 39C (102.2F) within the first 24 hours following birth. (adapted from ACOG)|NCI|N|
C1331544|A melanoma arising from the scrotum.|NCI|N|
C1332038|A carcinoma arising from the anus and occurring in HIV-positive patients. Homosexual HIV-positive men have an increased risk of developing anal squamous cell carcinoma in comparison to the general male population. Sexually transmitted human papillomavirus is detected in the majority of the cases.|NCI|N|
C1332039|Carcinoma occurring in HIV-positive patients.|NCI|N|
C1332040|A carcinoma that arises from the cervix in a patient with acquired immunodeficiency syndrome.|NCI|N|
C1332042|A diffuse large B-cell lymphoma occurring in HIV-positive patients.|NCI|N|
C1332043|Enterocolitis associated with the AIDS virus.|NCI|N|
C1332044|An opportunistic infection caused by herpes zoster in a patient with AIDS.|NCI|N|
C1332048|Diffuse large B-cell lymphoma arising in HHV8-positive multicentric Castleman disease occurring in HIV-positive patients.|NCI|N|
C1332049|A malignant neoplasm arising from the anus and occurring in HIV-positive patients. Representative examples include squamous cell carcinoma and non-Hodgkin lymphoma. Homosexual HIV-positive men have an increased risk of developing such malignancies in comparison to the general male population.|NCI|N|
C1332050|A malignant neoplasm that arises from the cervix in a patient with acquired immunodeficiency syndrome. This category includes cervical carcinoma, Kaposi sarcoma, and non-Hodgkin lymphoma.|NCI|N|
C1332051|A non-Hodgkin lymphoma that develops in a patient with AIDS.|NCI|N|
C1332052|A non-Hodgkin lymphoma that arises from the cervix in a patient with acquired immunodeficiency syndrome.|NCI|N|
C1332054|Pelvic inflammatory disease that develops in a patient with HIV/AIDS.|NCI|N|
C1332055|A plasmablastic lymphoma in a patient with acquired immunodeficiency syndrome.|NCI|N|
C1332056|A plasmablastic mucosal site lymphoma in a patient with acquired immunodeficiency syndrome.|NCI|N|
C1332057|A plasmablastic oral mucosa lymphoma in a patient with acquired immunodeficiency syndrome.|NCI|N|
C1332058|A serious AIDS-related opportunistic infection of the lungs, caused by Pneumocystis jirovecii. It is one of the most common AIDS-related illnesses and is a major cause of morbidity in patients with AIDS. Signs and symptoms include cough, fever, dyspnea, and pain or tightness in the chest.|NCI|N|
C1332059|Primary effusion lymphoma occurring in HIV-positive patients.|NCI|N|
C1332060|Retinopathy resulting from AIDS.|NCI|N|
C1332064|AIDS related research with a minimum of 20% (or $100,000) relevance to individuals with hemophilia, a sex-linked hereditary blood defect that occurs almost exclusively in males and is characterized by delayed clotting of the blood and consequent difficulty in controlling hemorrhage even after minor injuries. (FMB)|NCI|N|
C1332066|Cancer cells are given a score of 1 to 3, with 1 being assigned when they look similar to normal cells and 3 being used when the cancer cells look very abnormal. Certain types of sarcoma are given a higher score automatically. See also NCIt:C9419 (Synonym of AJCC G1 Sarcoma)|MONDO|N|
C1332078|A type of ALCL, a rare and aggressive peripheral T-cell non-Hodgkin lymphoma affecting lymph nodes and extranodal sites, which is characterized by the lack of expression of a protein called anaplastic lymphoma kinase (ALK).|ORDO|N|
C1332079|A type of ALCL, a rare and aggressive peripheral T-cell non-Hodgkin lymphoma affecting lymph nodes and extranodal sites, which is characterized by the expression of a protein called anaplastic lymphoma kinase (ALK).|ORDO|N|
C1332129|A laboratory test result that indicates the presence of abnormal blood chemistry and/or hematology values.|NCI|N|
C1332133|A syndrome which occurs following withdrawal of an abused substance. Clinical signs vary depending on the substance that was abused and may include irritability, trembling and vomiting. The clinical course depends on the ability to manage the withdrawal symptoms.|NCI|N|
C1332135|A rare genetic syndrome featuring connective tissue abnormalities. Clinical signs include brachycephaly, arachnodactyly, receding mandible and joint laxity at the hands and feet.|NCI|N|
C1332137|A morphologic variant of lung adenocarcinoma characterized by the presence of acinar structures composed of columnar or cuboidal cells. (NCI05)|NCI|N|
C1332139|An invasive adenocarcinoma of the prostate gland composed of secretory cells. It is the most common histologic type of prostate adenocarcinoma. Several morphologic variants exist, including atrophic, pseudohyperplastic, foamy gland, and oncocytic variants.|NCI|N|
C1332141|A disorder which affects sensation in the hands. Clinical signs usually include tingling or numbness with onset in middle-age. There is a female predominance among those affected.|NCI|N|
C1332146|The most common variant of adult T-cell leukemia/lymphoma. It is characterized by systemic disease with a leukemic phase, generalized lymphadenopathy, and skin lesions. Hypercalcemia is commonly seen.|NCI|N|
C1332148|A finding of acute erythroid leukemia that is not growing and responds to treatment.|NCI|N|
C1332149|Acute encephalitis that is characterized by bleeding.|NCI|N|
C1332153|An acute myeloid leukemia developing in patients with a prior history of myelodysplastic syndrome.|NCI|N|
C1332155|Acute myeloid leukemia characterized by the presence of abnormal bone marrow eosinophils and the characteristic cytogenetic abnormality t(16;16)(p13.1;q22) which results in the expression of the fusion protein CBFB-MYH11.|NCI|N|
C1332156|Acute myelomonocytic leukemia characterized by the presence of abnormal bone marrow eosinophils. It is associated with inv(16)(p13.1;q22) or t(16;16)(p13.1;q22). It has a favorable prognosis.|NCI|N|
C1332162|The sudden shrinking and/or complete disappearance of the thymus gland; this often happens as a response to a physiologic stressor, such as infection or malnutrition.|NCI|N|
C1332165|A lung carcinoma characterized by a combination of small cell carcinoma and adenocarcinoma.|NCI|N|
C1332166|An adenocarcinoma that arises from and straddles the junction of the stomach and esophagus. The category of adenocarcinomas of the gastroesophageal junction also includes the majority of adenocarcinomas previously called gastric cardia adenocarcinomas. Squamous cell carcinomas that affect or cross the junction of the stomach and esophagus are classified as carcinomas of the distal esophagus. Adenocarcinoma of the gastroesophageal junction occurs more often in Caucasian middle aged and elderly males. Clinical signs and symptoms include dysphagia, abdominal pain, and weight loss. The prognosis depends on the completeness of the surgical resection, the number of lymph nodes involved by cancer, and the presence or absence of postoperative complications. The presence of TP53 mutations indicates worse prognosis.|NCI|N|
C1332167|Salivary gland type cancer of the breast describes a group of uncommon neoplasms, usually seen in the salivary glands but occurring in the breast, with a variable clinicopathologic spectrum and divided into those with myoepithelial differentiation and those without. This group includes mammary adenoid cystic carcinoma, adenoid cystic carcinoma (see this term), mucoepidermoid carcinoma, acinic cell carcinoma, polymorphous low-grade adenocarcinoma and oncocytic carcinoma.|ORDO|N|
C1332168|An intramucosal malignant glandular epithelial infiltrate in a colonic adenoma. There is no evidence of submucosal invasion.|NCI|N|
C1332171|A rare carcinoma that arises from the thymus and is characterized by the presence of glandular and squamous carcinomatous components.|NCI|N|
C1332173|A disorder which limits movement of the eye following ocular surgery. It is caused by the inadvertent scarring down of the middle portion of the inferior oblique muscle at or near the insertion of the inferior rectus muscle. Clinical signs include hypotropia and excyclotropia. Surgical release of the incarcerated segment will usually correct the deviation of the affected eye.|NCI|N|
C1332176|A ganglioneuroblastoma arising from the adrenal gland.|NCI|N|
C1332177|A hyperplasia that involves the adrenal medulla.|MONDO|N|
C1332181|An acute monoblastic and monocytic leukemia occurring in adults.|NCI|N|
C1332182|An anaplastic large cell lymphoma occurring in adults.|NCI|N|
C1332183|An astrocytic tumor occurring during adulthood. Representative examples include diffuse astrocytoma, anaplastic astrocytoma, and glioblastoma.|NCI|N|
C1332184|An atypical meningioma that occurs during adulthood.|NCI|N|
C1332185|A morphologic variant of embryonal rhabdomyosarcoma occurring in adults. The neoplasm arises from organs containing a mucosal epithelial surface. It is characterized by the formation of a cambium layer in the affected tissue and polypoid nodules with an abundant myxoid stroma.|NCI|N|
C1332186|An ependymoma that arises from the brain and occurs in adults.|NCI|N|
C1332187|A brain glioblastoma that occurs during adulthood.|NCI|N|
C1332189|An intracranial meningioma that occurs during adulthood.|NCI|N|
C1332191|An astrocytoma of the brain stem that occurs during adulthood.|NCI|N|
C1332192|A benign or malignant, primary or metastatic neoplasm of the brain stem occurring in adults.|NCI|N|
C1332194|A mature teratoma that arises from the central nervous system in adults.|NCI|N|
C1332195|A mixed germ cell tumor of central nervous system that occurs in an adult.|MONDO|N|
C1332196|A central nervous system embryonal tumor, not otherwise specified that occurs in adults.|NCI|N|
C1332197|A benign or malignant, primary or metastatic neoplasm of the cerebellum occurring in adults.|NCI|N|
C1332198|A clear cell sarcoma of soft tissue occurring during adulthood.|NCI|N|
C1332199|A desmoplastic small round cell tumor occurring in adults.|NCI|N|
C1332200|A low grade (WHO grade II) astrocytoma occurring during adulthood. It is characterized by a high degree of cellular differentiation, slow growth, and diffuse infiltration of neighboring brain structures.|NCI|N|
C1332201|A diffuse large B-cell lymphoma occurring in adults.|NCI|N|
C1332204|A melanoma that arises from leptomeningeal melanocytes and occurs in adulthood.|NCI|N|
C1332205|Lymphocyte-rich classic Hodgkin lymphoma that occurs in adults.|NCI|N|
C1332206|A lymphoma that occurs in adults.|NCI|N|
C1332207|A mesenchymal chondrosarcoma occurring in adults.|NCI|N|
C1332210|A nodular lymphocyte predominant Hodgkin lymphoma occurring in adults.|NCI|N|
C1332211|An aggressive rhabdomyosarcoma occurring in adults. The neoplasm is characterized by the presence of bizarre round, spindle, and polygonal cells. Clinical presentation includes a rapidly enlarging painful mass usually in the lower extremities.|NCI|N|
C1332212|B-lymphoblastic lymphoma that occurs in adults.|NCI|N|
C1332213|T-lymphoblastic lymphoma occurring in adults.|NCI|N|
C1332214|Primary cutaneous anaplastic large cell lymphoma that occurs in adults.|NCI|N|
C1332215|An ependymoma of the spinal cord not associated with MYCN amplification and occurring in adults.|NCI|N|
C1332216|An anaplastic large cell lymphoma affecting multiple anatomic sites and occurring in adults.|NCI|N|
C1332218|A low-grade malignant sex cord-stromal tumor that occurs in the ovary and affects middle aged to post-menopausal women. It is composed of granulosa cells in an often fibrothecomatous stroma. The neoplastic cells may form various patterns including the microfollicular, which is characterized by the presence of Call-Exner bodies, macrofollicular, insular, trabecular, and diffuse pattern. Signs and symptoms include abdominal mass, hemoperitoneum, and ascites. Estrogenic and rarely androgenic manifestations may be present. The vast majority of cases present as stage I tumors; however, all tumors have a potential for aggressive clinical course.|NCI|N|
C1332219|Wilms tumor of the kidney which occurs in adults.|NCI|N|
C1332220|A xanthogranuloma that occurs during adulthood.|NCI|N|
C1332221|A yolk sac tumor that occurs in an adult.|MONDO|N|
C1332222|A hepatocellular carcinoma that develops following exposure to aflatoxin.|NCI|N|
C1332223|A finding indicating that a disease has an aggressive clinical outcome.|NCI|N|
C1332225|A non-Hodgkin lymphoma with an aggressive clinical course. Representative examples include Burkitt lymphoma, mantle cell lymphoma, and angioimmunoblastic T-cell lymphoma.|NCI|N|
C1332226|A carcinoma that is caused by alcohol abuse.|NCI|N|
C1332227|An esophageal carcinoma that results from alcohol consumption. The alcohol-related esophageal carcinomas are always of squamous cell type. There is no association between alcohol consumption and esophageal adenocarcinomas.|NCI|N|
C1332228|A hepatocellular carcinoma that develops following alcohol-induced injury of the liver parenchyma.|NCI|N|
C1332229|A carcinoma that arises from the larynx and is caused by alcohol abuse.|NCI|N|
C1332231|Aleukemic leukemia cutis where the skin in infiltrated by lymphoblasts.|NCI|N|
C1332232|Aleukemic leukemia cutis where the skin in infiltrated by neoplastic monocytes.|NCI|N|
C1332234|A subgroup of therapy-related myeloid neoplasms (t-MN), associated with a treatment of an unrelated neoplastic or autoimmune disease with cytotoxic agents, like cyclophosphamid, platins, melphalan and others. The neoplastic cells typically harbour unbalanced aberrations of chromosomes 5 and 7 (monosomy 5/del(5q) and monosomy 7/del(7q)) or a complex karyotype. It usually presents with multilineage dysplasia and cytopenias 5-10 years after exposure, with symptoms related to the degree of bone marrow failure and the corresponding cytopenia (fatigue, bleeding and bruising, recurrent infections, bone pain).|SNOMEDCT_US|N|
C1332235|A disorder seen following cancer chemotherapy. It is the most common cause of therapy-related myelodysplastic syndromes. It typically manifests several years after initiation of single or multi-agent chemotherapy with alkylators. Mutagenic potential of alkylating agents is believed to be age and cumulative dose-dependent. Deletions in chromosomes 5 and 7 are associated with susceptibility to this disorder. Clinical signs may include fatigue, dyspnea, bruising and frequent infections. Clinical course may progress to bone marrow failure or acute myeloid leukemia that is refractory to treatment. Prognosis is dismal with survivability usually less than one year.|NCI|N|
C1332239|A change to taste and/or olfactory perception resulting from disease processes or treatment.|NCI|N|
C1332241|A very rare ameloblastic carcinoma that originates from a pre-existing benign ameloblastoma.|NCI|N|
C1332242|A rare, aggressive malignant tumor that originates from an odontogenic cyst in the maxillomandibular region. It combines the histologic features of an ameloblastoma and carcinoma.|NCI|N|
C1332243|An invasive carcinoma with glandular differentiation arising from the ampulla of Vater. Signs and symptoms include jaundice, abdominal pain, anorexia, nausea, vomiting, and weight loss.|NCI|N|
C1332244|An adenoma that arises from the ampulla of Vater and resembles the adenomas of the small and large intestines. Morphologically, according to the growth pattern, it may be classified as tubular, tubulovillous, or villous. Dysplasia is always present. Jaundice may be an early symptom.|NCI|N|
C1332245|A carcinoma with glandular and squamous differentiation arising from the ampulla of Vater. Signs and symptoms include jaundice, abdominal pain, anorexia, nausea, vomiting, and weight loss.|NCI|N|
C1332246|A carcinoma with glandular differentiation arising from the ampulla of Vater. Morphologically, it is characterized by the presence of glycogen-rich cells with hyperchromatic nuclei.|NCI|N|
C1332247|An invasive adenocarcinoma arising from the ampulla of Vater. Morphologically, it is characterized by the presence of intestinal-type malignant epithelial cells.|NCI|N|
C1332248|A carcinoma with glandular differentiation arising from the ampulla of Vater. Morphologically, it is characterized by the presence of mucoid stroma formation.|NCI|N|
C1332249|An adenocarcinoma arising from the ampulla of Vater. Morphologically, it is characterized by the presence of mucin-containing signet-ring cells.|NCI|N|
C1332250|An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the ampulla of Vater and the periampullary region. It is characterized by the presence of malignant small cells.|NCI|N|
C1332251|A carcinoma with squamous differentiation arising from the ampulla of Vater. Signs and symptoms include jaundice, abdominal pain, anorexia, nausea, vomiting, and weight loss.|NCI|N|
C1332252|An intestinal-type adenoma arising from the ampulla of Vater. It is characterized by the presence of tubular epithelial structures and it is associated with dysplasia.|NCI|N|
C1332253|An intestinal-type adenoma arising from the ampulla of Vater. It is characterized by the presence of tubular and villous epithelial structures and it is associated with dysplasia.|NCI|N|
C1332254|An aggressive carcinoma arising from the ampulla of Vater. Morphologically, it is characterized by the presence of malignant epithelial cells without evidence of glandular or squamous differentiation. Signs and symptoms include jaundice, abdominal pain, anorexia, nausea, vomiting, and weight loss.|NCI|N|
C1332255|An intestinal-type adenoma arising from the ampulla of Vater. It is characterized by the presence of villous epithelial structures and it is associated with dysplasia.|NCI|N|
C1332257|An adenocarcinoma arising in the anal canal epithelium, including the mucosal surface, the anal glands, and the lining of fistulous tracts. The prognosis is related to the stage at diagnosis.|NCI|N|
C1332258|An anal adenocarcinoma arising from the lining of an anorectal fistulous tract. The overlying anal mucosa does not show evidence of neoplastic changes. Some cases are associated with Crohn disease.|NCI|N|
C1332259|An adenoma carcinoma that originates in the anal canal.|HPO|N|
C1332260|A precancerous neoplastic intraepithelial process involving the anal canal. When it is clinically noticeable, it may appear as an eczematous or papillary lesion, plaques, or papules. Morphologically, it is characterized by loss of epithelial stratification and nuclear polarity, cytologic atypia, and the presence of mitotic figures. It may be classified as low or high grade.|NCI|N|
C1332261|Paget disease involving the squamous epithelium of the anal canal.|NCI|N|
C1332262|A squamous cell carcinoma that originates in the anal canal.|HPO|N|
C1332263|An anal adenocarcinoma arising from the lining of an anorectal fistulous tract or the anal glands. The overlying anal mucosa does not show evidence of neoplastic changes. It usually presents as a submucosal tumor.|NCI|N|
C1332265|A Kaposi sarcoma arising from the anus. HIV-positive patients have an increased risk of developing Kaposi sarcoma in the perianal region.|NCI|N|
C1332266|A well-circumscribed benign smooth muscle neoplasm arising from the anus. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.|NCI|N|
C1332267|An aggressive malignant smooth muscle neoplasm, arising from the anus. It is characterized by a proliferation of neoplastic spindle cells.|NCI|N|
C1332268|A usually large cell non-Hodgkin lymphoma of B-cell phenotype, arising from the anus. Lymphomas originating from the anal region are rare in the general population, but they are seen with a higher frequency in HIV-positive patients, particularly homosexual men.|NCI|N|
C1332269|A basal cell carcinoma that originates in the anal margin.|HPO|N|
C1332270|An intraepithelial adenocarcinoma originating in the anal margin and characterized by presence of typical Paget's cells, appearing as large rounded vacuolated cells.|HPO|N|
C1332271|A precancerous neoplastic intraepithelial process involving the squamous epithelium of the perianal skin. Clinically, it usually presents as a white or red area in the perianal skin. Morphologically, it is characterized by full thickness dysplasia of the squamous epithelium and sometimes of the pilosebaceous epithelium. Human papillomavirus DNA sometimes may be identified in the dysplastic epithelium. It may recur after treatment, however only a small percentage of cases progress to squamous cell carcinoma.|NCI|N|
C1332272|An anal adenocarcinoma characterized by the presence of mucoid stroma formation.|NCI|N|
C1332273|A neoplasm with neuroendocrine differentiation that arises from the anal canal. It includes neuroendocrine tumors (well-differentiated neuroendocrine neoplasms) and neuroendocrine carcinomas (poorly differentiated neuroendocrine neoplasms).|NCI|N|
C1332274|A slowly spreading, erythematous eczematoid plaque in the anal region. Histologically, the basal part or whole thickness of the squamous epithelium is infiltrated by large cells with abundant pale cytoplasm and large nuclei. Half of the cases are associated with an internal malignancy, most often a colorectal adenocarcinoma. The other half of the cases, have a high local recurrence rate and they may become invasive (WHO).|NCI|N|
C1332276|A malignant mesenchymal tumor with skeletal muscle differentiation affecting the anus.|NCI|N|
C1332277|A malignant soft tissue neoplasm arising from the anus. Representative examples include leiomyosarcoma, rhabdomyosarcoma, and Kaposi sarcoma.|NCI|N|
C1332278|A large, well differentiated squamous cell carcinoma with a cauliflower-like appearance, characterized by the presence of an exophytic and endophytic growth pattern. Morphologically, there is papillomatosis and acanthosis present, however cytologically the neoplastic squamous cells have a benign appearance. Dysplastic changes are minimal. It does not respond to conservative treatment and it is regarded by many authors as an intermediate lesion between condyloma acuminatum and squamous cell carcinoma.|NCI|N|
C1332279|An anaplastic astrocytoma that arises from the brain stem.|NCI|N|
C1332280|An anaplastic glioma that arises from the brain stem.|NCI|N|
C1332281|An anaplastic astrocytoma that occurs in the diencephalon.|NCI|N|
C1332282|An anaplastic astrocytoma that arises from the cerebral hemispheres.|NCI|N|
C1332283|An anaplastic large cell lymphoma characterized by the presence of histopathologic features reminiscent of lymphomatoid papulosis. These features include the presence of Hodgkin-like cells in a background of acute and chronic inflammation.|NCI|N|
C1332284|An anaplastic lymphoma that arises in a patient with a history of organ transplantation.|NCI|N|
C1332285|An anaplastic meningioma that arises within the cranial cavity.|NCI|N|
C1332286|An anaplastic (malignant) meningioma involving the spinal meninges.|NCI|N|
C1332287|A malignant neoplasm characterized by the presence of poorly differentiated, often large neoplastic cells with bizarre morphologic characteristics, associated with high mitotic activity and necrotic changes.|NCI|N|
C1332288|An anaplastic astrocytoma occurring in the supratentorial area secondary to a preexisting tumor.|NCI|N|
C1332289|Wilms tumor of the kidney characterized by the presence of nuclear anaplasia. Anaplasia is defined by the presence of all of the following: multipolar polyploid mitotic figures, marked nuclear enlargement, and hyperchromasia. When anaplasia is diffuse, it is associated with an unfavorable clinical outcome.|NCI|N|
C1332293|The commonest type of Castleman disease. It is seen most commonly in the mediastinum. Histologically this is characterized by hyalinized germinal centers surrounded by small lymphocytes in a concentric fashion, giving an onion skin appearance.|NCI|N|
C1332294|Castleman disease characterized by the presence of prominent hyalinized vessels in the germinal centers and prominent sheets of plasma cells in the interfollicular areas.|NCI|N|
C1332297|An angiosarcoma that develops in association with long standing lymphedema.|NCI|N|
C1332298|An angiosarcoma with less than 15% necrosis.|NCI|N|
C1332299|An angiosarcoma with more than 15% necrosis.|NCI|N|
C1332301|A meningioma that affects the anterior cranial fossa.|NCI|N|
C1332302|A meningioma that affects the anterior foramen magnum.|NCI|N|
C1332303|An adenoid cystic carcinoma arising from the minor salivary glands in the anterior tongue.|NCI|N|
C1332304|A carcinoma that arises from the anterior two-thirds of the tongue. Representative examples include squamous cell carcinoma, adenoid cystic carcinoma, and mucoepidermoid carcinoma.|NCI|N|
C1332305|A mucoepidermoid carcinoma arising from the minor salivary glands in the anterior tongue.|NCI|N|
C1332306|A benign or malignant neoplasm that affects the anterior portion of the tongue.|NCI|N|
C1332308|A meningioma that affects the anterior visual pathway.|NCI|N|
C1332309|Inflammation of the glomeruli secondary to presence of autoantibodies directed at specific antigenic targets within the glomerular basement membrane, causing hematuria, proteinuria, and impaired renal function.|NCI|N|
C1332312|A malignant vascular neoplasm arising from the aorta.|NCI|N|
C1332314|Breast adenosis characterized by the presence of extensive apocrine metaplasia.|NCI|N|
C1332315|A ductal breast carcinoma in situ, characterized by the presence of neoplastic epithelial cells with apocrine differentiation.|NCI|N|
C1332316|An adenocarcinoma of the breast characterized by the presence of two intermingled cellular components: cells with abundant granular, eosinophilic cytoplasm, and cells with abundant cytoplasm containing fine empty vacuoles.|NCI|N|
C1332318|A benign or malignant sweat gland neoplasm with apocrine differentiation. Representative examples include apocrine adenoma, ceruminous adenocarcinoma, and apocrine breast carcinoma.|NCI|N|
C1332319|A hamartoma characterized by localized apocrine sweat gland malformation.|NCI|N|
C1332327|A well-circumscribed benign smooth muscle neoplasm arising from the appendix. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.|NCI|N|
C1332328|A lymphoma arising from the appendix. The majority of lymphomas affecting the appendix represent disease extension from the intestinal wall; primary lymphomas of the appendix are rare.|NCI|N|
C1332329|An adenoma arising from the appendix. It is characterized by the presence of villous epithelial structures and it is associated with dysplasia.|NCI|N|
C1332333|Severe cellular and nuclear atypia in the cells of the endometrial glands. It often occurs during gestation, gestational trophoblastic disease, and treatment with gonadotropins or high doses of progestins.|NCI|N|
C1332337|A carcinoma arising in the lung due to exposure to asbestos.|NCI|N|
C1332338|Malignant mesothelioma occurring in a patient exposed to asbestos.|NCI|N|
C1332340|A well differentiated, low grade neuroendocrine neoplasm (carcinoid tumor) that arises from the ascending colon. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent.|NCI|N|
C1332342|A bone osteosarcoma affecting multiple skeletal sites, with multifocal lesions discovered between 6 and 24 months after the appearance of the initial tumor. Patients with asynchronous tumors have a better prognosis than those with synchronous osteosarcomas.|NCI|N|
C1332343|An extra-adrenal paraganglioma arising from paraganglia located in the cardiac atrium.|NCI|N|
C1332344|A condition in which deposits of fat accumulate within the interatrial septum.|NCI|N|
C1332345|A preinvasive lesion in the lung. It is characterized by the presence of a small, localized proliferation of mildly to moderately atypical type II pneumocytes and/or Clara cells lining alveolar walls and sometimes respiratory bronchioles.|NCI|N|
C1332346|An intraductal papilloma of the breast characterized by the presence of focal epithelial atypia.|NCI|N|
C1332347|A neoplastic process that arises from the terminal ductal lobular unit of the breast parenchyma. It is usually solitary and confined to a single lobular unit. It is characterized by the presence of a monomorphic epithelial proliferation in a cribriform, micropapillary, or solid growth pattern. Focal architectural features of low grade ductal carcinoma in situ are present. There is an increased risk for development of invasive breast carcinoma.|NCI|N|
C1332348|An atypical lymphoid hyperplasia involving the gastric mucosa.|NCI|N|
C1332352|A morphologic finding indicating the presence of atypical mitoses in malignant cells.|NCI|N|
C1332353|Focal proliferation of small acinar glandular cells in the prostate gland with cytologic changes ranging from atypia to highly suggestive of malignancy.|NCI|N|
C1332356|A tumor that arises from an element of the autonomic nervous system.|HPO|N|
C1332363|A B-cell lymphoproliferative disorder with uncertain malignant potential. The representative example of this category is lymphomatoid granulomatosis.|NCI|N|
C1332403|Human BCPR wild-type allele is located in the vicinity of 17p13.3 and the length of the gene is currently unknown. This allele, which encodes breast cancer-related regulator of TP53 protein, plays a role in tumor suppression.|NCI|N|
C1332432|Kidney dysfunction resulting from complications of bone marrow transplantation.|NCI|N|
C1332442|An autosomal dominant inherited syndrome caused by deleterious mutations in the BRCA1 gene. Patients are at high risk of developing breast cancer, ovarian cancer, and other cancers including cervical, endometrial, fallopian tube, and colon cancer.|NCI|N|
C1332443|An autosomal dominant inherited syndrome caused by deleterious mutations in the BRCA2 gene. Patients are at high risk of developing female and male breast cancer, ovarian cancer, and other cancers including prostatic cancer, pancreatic cancer, gastric cancer, and melanoma.|NCI|N|
C1332457|A malignancy in which there is a well-documented association between a neoplastic process and a specific bacterium as the causative agent.|NCI|N|
C1332460|An adenocarcinoma arising from Barrett metaplastic epithelium in the esophagus. There is evidence supporting the idea that the Barrett adenocarcinomas develop through a stepwise progression through intestinal metaplastic epithelium to epithelial dysplasia to malignancy. Adenocarcinomas arising in the setting of Barrett esophagus are typically papillary and/or tubular. In terms of grading, they are well or moderately differentiated adenocarcinomas.|NCI|N|
C1332462|An aggressive, human papillomavirus-related squamous cell carcinoma that arises from the penis. It is characterized by the presence of nests of small malignant cells. The malignant cells tend to invade deeply into the adjacent tissues. Comedo-type necrosis is often present.|NCI|N|
C1332463|A large cell lung carcinoma characterized by the presence of a solid nodular or anastomotic trabecular growth pattern, peripheral palisading, and comedo type necrosis.|NCI|N|
C1332464|A rare primary thymic carcinoma, characterized by the presence of tumor cell lobules with peripheral palisading, and a basophilic staining pattern. More than half of reported cases were associated with the presence of a multilocular thymic cyst. Metastases to lung and liver have been reported in approximately 30% of cases.|NCI|N|
C1332466|A benign neoplasm of the brain occurring in adults.|NCI|N|
C1332467|A benign neoplasm of the brain stem occurring in adults.|NCI|N|
C1332468|A benign neoplasm of the cerebellum occurring in adults.|NCI|N|
C1332469|A benign neoplasm of the cerebrum occurring in adults.|NCI|N|
C1332470|An ameloblastoma that does not recur or metastasize.|NCI|N|
C1332471|A granular cell tumor that arises from the anus and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C1332472|A neoplasm that arises from the anterior portion of tongue and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C1332473|An epithelial neoplasm that arises from the apocrine glands and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C1332474|A neoplasm that arises from the right or left atrium and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C1332476|A very rare schwannoma of the bone. It is often located in the mandible and is well circumscribed.|NCI|N|
C1332477|A benign, nodular tumor that arises from the breast parenchyma. It is characterized by the proliferation of myoepithelial cells around spaces that are lined by epithelial cells. Occasionally, adenomyoepitheliomas may undergo malignant transformation.|NCI|N|
C1332478|A germ cell tumor that arises within the myocardium or cardiac chambers. There is no evidence of atypia or metastases.|NCI|N|
C1332479|A benign peripheral nervous system neoplasm that is composed of well-differentiated Schwann cells and affects the heart.|NCI|N|
C1332481|A mesenchymal, non-meningothelial neoplasm that arises from the central nervous system and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C1332482|A childhood neoplasm that arises from the brain and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C1332483|A childhood neoplasm that arises from the central nervous system and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C1332484|A childhood neoplasm that arises from the cerebrum and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C1332485|A germ cell tumor that occurs during childhood and is characterized by the absence of atypia and metastatic potential.|NCI|N|
C1332486|A childhood neoplasm that arises from the supratentorial region and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C1332489|A neoplasm that arises from the dermis and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C1332490|A benign schwannoma occurring in the skin.|NCI|N|
C1332491|A neoplasm that arises from the diencephalon and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C1332492|A very rare, benign sweat gland neoplasm that affects the breast. It is characterized by the proliferation of basaloid epithelial cells.|NCI|N|
C1332493|An epithelial neoplasm that arises from the eccrine glands and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential. Representative examples include hidrocystoma, syringoma, and syringofibroadenoma.|NCI|N|
C1332495|A slowly growing, benign, usually encapsulated neoplasm arising from the esophagus. Morphologically, it is composed of neoplastic differentiated Schwann cells.|NCI|N|
C1332496|A germ cell tumor that arises from an anatomic site other than the testis or ovary. There is no evidence of atypia or metastases.|NCI|N|
C1332497|A mesenchymal neoplasm that arises from the extrahepatic bile ducts and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C1332498|A neoplasm that arises from the non-epithelial tissues of the extrahepatic bile ducts and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C1332499|A benign mesenchymal neoplasm with cartilaginous or osseous differentiation arising from the soft tissues exclusively. Representative examples include chondroma and osteoma.|NCI|N|
C1332500|A mesenchymal neoplasm composed of fibrohistiocytic cells, spindle fibroblastic cells, and histiocytes, in a storiform pattern. There is no evidence of atypical or malignant cytological and architectural features, invasive features, or metastases.|NCI|N|
C1332501|A benign mesenchymal neoplasm characterized by the presence of neoplastic fibroblasts without malignant characteristics.|NCI|N|
C1332502|A granular cell tumor that arises from the gallbladder and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C1332503|A granular cell tumor that arises from the stomach and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C1332504|A mesenchymal neoplasm that arises from the stomach and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential. Representative examples include leiomyoma, lipoma, and hemangioma.|NCI|N|
C1332505|A germ cell tumor without evidence of atypia and metastatic potential.|NCI|N|
C1332506|A glomus tumor of small size characterized by the absence of nuclear atypia and mitotic activity.|NCI|N|
C1332507|A granular cell tumor that arises from the extrahepatic bile ducts and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C1332508|A grade I, slowly growing meningioma within the cranial cavity.|NCI|N|
C1332509|A neoplasm that involves the intracranial area and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C1332510|A benign hemangiopericytoma arising from the kidney.|NCI|N|
C1332511|A germ cell tumor that arises from the mediastinum. There is no evidence of atypia or metastases.|NCI|N|
C1332512|A benign hemangiopericytoma arising from the mediastinum.|NCI|N|
C1332513|A schwannoma that arises from the posterior mediastinum. It is characterized by the presence of psammoma bodies.|NCI|N|
C1332516|A mesenchymal neoplasm that arises from the mediastinum and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential. Representative examples include lipoma, leiomyoma, and rhabdomyoma.|NCI|N|
C1332517|A benign soft tissue neoplasm in which the line of differentiation is uncertain.|NCI|N|
C1332518|A cystically dilated epithelial neoplasm arising from the appendix. It is characterized by the presence of a cystic structure that is filled with mucus.|NCI|N|
C1332519|A neoplasm that arises from the nipple and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C1332520|A non-epithelial neoplasm that arises from the gallbladder and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential. Representative examples include leiomyoma, lipoma, and neurofibroma.|NCI|N|
C1332521|A non-epithelial neoplasm that arises from the liver and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential. Representative examples include hemangioma, angiomyolipoma, and solitary fibrous tumor.|NCI|N|
C1332522|A benign hemangiopericytoma arising from the orbit.|NCI|N|
C1332523|A mesenchymal bone-forming neoplasm characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential. This category includes osteoma, osteoid osteoma, and osteoblastoma.|NCI|N|
C1332524|A non-metastasizing thecoma of the ovary that is characterized by the presence of lutein cells.|NCI|N|
C1332525|A non-metastasizing mixed epithelial neoplasm that arises from the ovary. It is characterized by the presence of more than one epithelial cell type, most often serous and endocervical-type mucinous. There is no evidence of atypia. This category includes seromucinous cystadenoma and seromucinous adenofibroma.|NCI|N|
C1332527|A non-metastasizing neoplasm that arises from the ovary and is characterized by the presence of neoplastic epithelium that resembles the epithelium of the fallopian tube. There is no evidence of atypia. It includes serous cystadenoma, serous adenofibroma, serous cystadenofibroma, and surface papilloma.|NCI|N|
C1332528|A sex cord-stromal tumor arising from the ovary, without metastatic potential.|NCI|N|
C1332529|A thecoma of the ovary that does not metastasize to other anatomic sites.|NCI|N|
C1332530|A granular cell tumor that arises from a peripheral nerve and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C1332532|A mesenchymal neoplasm arising from the perivascular cells of connective and soft tissue. It is characterized by the presence of pericytes that grow in a circumferential pattern around vessels. There is no evidence of atypical or malignant cytological and architectural features, invasive features, or metastases.|NCI|N|
C1332533|A rare fibroepithelial neoplasm usually presenting in adult females with a well circumscribed mobile masses that grow rapidly and sometimes with additional non-specific symptoms such as dilated skin veins, nipple retraction, skin ulcers, palpable axillary lymphadenopathy or blue discoloration of the skin. The neoplasm can be benign or malignant.|ORDO|N|
C1332535|A rare benign neoplasm that arises from the prostate gland and is characterized by the presence of hyperplastic glands and stroma that contains spindle-shaped cells.|NCI|N|
C1332536|A neoplasm that arises from the male or female reproductive system and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C1332537|A rare benign tumor composed of sheets and islands of spindle, plasmacytoid, epithelioid, and clear cells that exhibit myoepithelial but not ductal differentiation. The average age of patients has been reported as 44 years. Clinically, these tumors present as asymptomatic masses. Discrimination between myoepithelioma and myoepithelial carcinoma is based primarily on the infiltrative growth of the latter.|NCI|N|
C1332538|A benign mesenchymal neoplasm arising from skeletal muscle tissue.|NCI|N|
C1332539|A benign mesenchymal neoplasm arising from smooth muscle tissue.|NCI|N|
C1332540|A non-metastasizing sex cord-stromal tumor that arises from the testis. Morphologically, it is characterized by the presence of Sertoli cells forming tubules. Leydig cells are rare or absent.|NCI|N|
C1332541|A neoplasm that arises from the thalamus and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C1332542|A non-metastasizing neoplasm that arises from the uterine corpus and is composed of epithelial and mesenchymal elements. Representative examples include adenomyoma and adenofibroma.|NCI|N|
C1332544|Acute myeloid leukemia caused by benzene.|NCI|N|
C1332547|A deficiency of two of the three blood cell lineages; erythrocytes, leukocytes and platelets.|NCI|N|
C1332549|A carcinoma that affects both sides of an organ in a simultaneous or non-simultaneous manner.|NCI|N|
C1332551|Meningiomas that affects both optic nerves.|NCI|N|
C1332552|A mucoepidermoid carcinoma that arises from the extrahepatic bile ducts.|NCI|N|
C1332556|A pulmonary blastoma composed of a mixture of irregular tubular structures and mesenchymal elements.|NCI|N|
C1332557|A bladder adenocarcinoma characterized by the presence of malignant glandular epithelial cells and clear cells distributed in a tubulo-cystic, papillary, or diffuse pattern. There is a female predilection. Clinical presentation includes hematuria and dysuria.|NCI|N|
C1332559|A flat urothelial lesion of variable thickness in the bladder, devoid of papillary structures containing cytologically malignant cells. (WHO 2016)|NCI|N|
C1332560|A leiomyoma that arises from the bladder. Although it is an uncommon tumor in the bladder, it is the most common mesenchymal neoplasm affecting the bladder.|NCI|N|
C1332561|A lymphoma involving the bladder.|NCI|N|
C1332562|An extra-adrenal sympathetic paraganglioma arising from the urinary bladder. Clinical signs include hypertension and hematuria.|NCI|N|
C1332563|A variant of bladder adenocarcinoma with mucin containing signet ring cells.|NCI|N|
C1332564|Small cell carcinoma of the bladder (SCCB) is a very rare, poorly differentiated neuroendocrine epithelial bladder tumor characterized clinically by hematuria and/or dysuria and a highly aggressive course.|ORDO|N|
C1332568|A distinct subtype of high-grade follicular center cell lymphoma, representing a diffuse transformation of conventional follicular lymphoma. Although this type of lymphoma strongly expresses BCL-2, it does not carry the characteristic t(14;18)(q32;q21) chromosomal translocation found in follicular lymphomas. Instead, extra copies of chromosome 18 are often detected.|NCI|N|
C1332569|An aggressive mantle cell lymphoma characterized by the presence of neoplastic B-lymphocytes resembling lymphoblasts.|NCI|N|
C1332574|A high-grade malignant vascular neoplasm that arises from the bone. It is characterized by the presence of neoplastic cells with endothelial differentiation.|NCI|N|
C1332575|A locally aggressive hemangioma that arises from the bone. It is characterized by the presence of epithelioid endothelial cells.|NCI|N|
C1332577|A benign or malignant glomus tumor arising from the bone.|NCI|N|
C1332578|A hemangioma arising in the bone.|NCI|N|
C1332579|A rare aggressive malignant smooth muscle neoplasm, arising from the bone. It is characterized by a proliferation of neoplastic spindle cells.|NCI|N|
C1332580|A benign neoplasm which is composed of adipocytes and arises from the surface of the bone or the medullary cavity.|NCI|N|
C1332581|A very rare liposarcoma that arises from the bone.|NCI|N|
C1332582|A rare lymphoid haemopathy defined as single or multiple tumours in the bone, not associated with infringement or violation of other extranodal malignant lymph nodes outside the area. It usually presents with bone pain, nerve compression, a palpable mass or fracture, while systemic features (fever, night sweats, fatigue, loss of appetite, weight loss) are not common.|SNOMEDCT_US|N|
C1332587|Count of eosinophils in the bone marrow above the upper limit of normal.|HPO|N|
C1332591|A usually aggressive malignant bone-forming mesenchymal neoplasm arising from the surface of the bone.|NCI|N|
C1332592|A phyllodes tumor of the breast characterized by the presence of intermediate features and a stroma which usually resembles low grade fibrosarcoma.|NCI|N|
C1332593|A group of epithelial neoplasms that arise from the exocrine pancreatic tissue and have the potential to evolve into invasive malignant neoplasms. This group includes the pancreatic intraepithelial neoplasias, non-invasive pancreatic mucinous-cystic neoplasms, pancreatic intraductal papillary-mucinous neoplasms, and pancreatic intraductal tubulopapillary neoplasms.|NCI|N|
C1332594|A lesion characterized by the presence of atypical or low-grade neoplastic cells, which may or may not exhibit stromal microinvasion and cannot be qualified as completely malignant.|NCI|N|
C1332595|An epithelial neoplasm that arises from the ovary characterized by the presence of cystic spaces which are lined by atypical glandular epithelial cells resembling endometrial cells. The surrounding ovarian stroma is fibrotic. There is no evidence of stromal invasion.|NCI|N|
C1332596|A low grade, non-invasive ovarian epithelial neoplasm characterized by the presence of atypical neoplastic serous and mucinous cells.|NCI|N|
C1332598|A low grade serous epithelial neoplasm arising from the ovary. It is characterized by an atypical proliferation of serous-type epithelial cells without evidence of stromal invasion. It is often asymptomatic but rarely it may present with abdominal pain or abdominal enlargement due to rupture or torsion.|NCI|N|
C1332602|A neoplasm (disease) that involves the brachial nerve plexus.|MONDO|N|
C1332606|A germinoma that occurs in the brain.|NCI|N|
C1332607|A sarcoma arising from the brain.|NCI|N|
C1332608|An astrocytoma that arises from the brain stem.|NCI|N|
C1332609|An ependymoma that arises from the brain stem.|NCI|N|
C1332610|A glioblastoma that arises from the brain stem.|NCI|N|
C1332611|A hemangioblastoma arising from the brain stem.|NCI|N|
C1332612|A morphologic variant of meningioma arising from the brain stem. It is characterized by the presence of clear glycogen-rich polygonal cells.|NCI|N|
C1332613|An invasive breast carcinoma characterized by the presence of a predominant squamous cell component that is admixed with the adenocarcinoma component.|NCI|N|
C1332614|A malignant vascular neoplasm arising from the breast.|NCI|N|
C1332619|A capillary hemangioma arising from the breast.|NCI|N|
C1332623|A carcinoma that arises from the breast and has metastasized to the bone.|NCI|N|
C1332624|A carcinoma that has spread to the brain from its original site in the breast, through the hematogenous route.|NCI|N|
C1332625|A carcinoma that originates from the breast and has spread to the liver.|NCI|N|
C1332626|A carcinoma that arises from the breast and has metastasized to the lung.|NCI|N|
C1332627|A hemangioma that arises from the breast. It is characterized by the presence of epithelioid endothelial cells.|NCI|N|
C1332628|Breast fibrocystic change characterized by the absence of epithelial cell hyperplasia.|NCI|N|
C1332629|Breast fibrocystic change characterized by the presence of epithelial cell hyperplasia. Epithelial atypia may be present or absent.|NCI|N|
C1332630|A usually aggressive malignant neoplasm arising from the breast. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern.|NCI|N|
C1332631|An aggressive malignant smooth muscle neoplasm, arising from the breast. It is characterized by a proliferation of neoplastic spindle cells.|NCI|N|
C1332632|A liposarcoma that arises from the breast parenchyma.|NCI|N|
C1332633|An extranodal marginal zone B-cell lymphoma of mucosa associated lymphoid tissue that arises from the breast as a primary tumor.|NCI|N|
C1332635|A neoplasm that arises from the breast and is composed of cells exhibiting neuroendocrine differentiation. It is classified as neuroendocrine carcinoma or neuroendocrine tumor G1 and neuroendocrine tumor G2. Most cases are neuroendocrine carcinomas. Primary neuroendocrine tumors in the breast are very rare.|NCI|N|
C1332637|A malignant mesenchymal tumor with skeletal muscle differentiation affecting the breast.|NCI|N|
C1332638|A poorly differentiated neuroendocrine carcinoma that arises from the breast. It is characterized by the presence of small neuroendocrine cells and high mitotic activity.|NCI|N|
C1332640|A benign adenomatous neoplasm that arises from the mucous glands in the bronchus.|NCI|N|
C1332641|A benign, exophytic and polypoid growth that arises from the buccal mucosa. It is covered by hyperplastic epithelium. Some cases are caused by human papillomavirus infection.|NCI|N|
C1332642|A Burkitt-like lymphoma that arises in a patient with a history of organ transplantation.|NCI|N|
C1332643|A Burkitt lymphoma that arises in a patient with a history of organ transplantation.|NCI|N|
C1332644|Burkitt lymphoma characterized by the presence of malignant cells with eccentric basophilic cytoplasm. The nucleoli of these cells are often single and central. This morphologic variant of Burkitt lymphoma is more often seen in patients with immunodeficiency.|NCI|N|
C1332655|A rare genetic primary immunodeficiency with characteristics of susceptibility to infection (mainly by gram negative bacteria) due to extremely low C3 plasma levels. Patients typically present recurrent episodes of sinusitis, tonsillitis, and/or otitis, as well as upper and lower respiratory tract infections (including pneumonia) and skin infections, such as erythema multiforme. Autoimmune disease resembling systemic lupus erythematosus and mesangiocapillary or membranoproliferative glomerulonephritis may develop, resulting in renal failure. The disease is caused by homozygous or compound heterozygous mutation in the C3 gene on chromosome 19p13.|SNOMEDCT_US|N|
C1332674|A non-Hodgkin lymphoma arising from the anus and occurring in HIV-positive patients. Homosexual HIV-positive men have an increased risk of developing anal non-Hodgkin lymphoma in comparison to the general male population. The majority of the cases are large cell lymphomas of B-cell phenotype.|NCI|N|
C1332833|A benign well-circumscribed lesion arising from the soft tissues. It is characterized by the presence of fibroblasts, lymphoplasmacytic infiltrates, collagenous stroma formation, psammoma bodies, and dystrophic calcifications.|NCI|N|
C1332837|A malignant neoplasm that has spread to nearby lymph nodes.|NCI|N|
C1332839|A well-differentiated, low grade neuroendocrine neoplasm arising from the breast.|NCI|N|
C1332840|A rare squamous cell carcinoma that either arises from or is associated with the presence of inverted papilloma in the nose.|NCI|N|
C1332842|An aggressive, high grade malignant tumor that arises from the salivary gland. It is characterized by the presence of a malignant epithelial and a sarcomatous component.|NCI|N|
C1332844|A usually aggressive malignant neoplasm arising from the heart. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern.|NCI|N|
C1332845|A very rare granular cell tumor that arises from the heart.|NCI|N|
C1332846|A low-grade malignant blood vessel neoplasm, arising from the heart. IIt is characterized by the presence of epithelioid endothelial cells. The neoplastic cells are arranged in cords and nests, which are embedded in a myxoid to hyalinized stroma.|NCI|N|
C1332847|A Kaposi sarcoma arising from the heart.|NCI|N|
C1332848|An aggressive malignant smooth muscle neoplasm, arising from the heart. It is characterized by a proliferation of neoplastic spindle cells.|NCI|N|
C1332849|A rare benign adipose tissue neoplasm of the heart usually originating in the epicardial or pericardial fatty tissue.|NCI|N|
C1332850|An extranodal lymphoma that arises from the heart. The majority of the cases are diffuse large B-cell lymphomas. Patients may present with chest pain, heart failure, pericardial effusion, arrhythmia, or syncope.|NCI|N|
C1332851|An extra-adrenal paraganglioma arising from paraganglia located in the heart.|NCI|N|
C1332852|A benign tumor of cardiac striated muscle.|HPO|N|
C1332860|A slow-growing, well-differentiated neuroendocrine tumor arising from the cauda equina.|NCI|N|
C1332863|A cavernous hemangioma arising from the face.|NCI|N|
C1332865|A meningioma that affects the cavernous sinus.|NCI|N|
C1332866|An adenocarcinoma arising from the cecum. It is more frequently seen in populations with a Western type diet and in patients with a history of chronic inflammatory bowel disease. Histologic variants include mucinous adenocarcinoma, signet ring cell carcinoma, medullary carcinoma, serrated adenocarcinoma, cribriform comedo-type adenocarcinoma, and micropapillary adenocarcinoma.|NCI|N|
C1332867|An extranodal lymphoma that arises from the cecum. The majority are B-cell non-Hodgkin lymphomas.|NCI|N|
C1332868|An extranodal non-Hodgkin lymphoma that arises from the cecum. The majority are B-cell non-Hodgkin lymphomas.|NCI|N|
C1332869|A neoplasm that arises from the glandular epithelium of the cecal mucosa. It is characterized by a villous architectural pattern. The neoplastic glandular cells have dysplastic features.|NCI|N|
C1332875|A malignant vascular neoplasm arising from the brain, spinal cord or meninges.|NCI|N|
C1332876|A rare primary germ cell tumor of central nervous system characterized by a lesion typically in the region of the pineal gland and the suprasellar compartment, composed of cytotrophoblastic elements and multinucleated syncytiotrophoblastic giant cells. Ectatic stromal vascular channels, blood lakes, and extensive hemorrhagic necrosis are the rule. The tumor usually arises in the second decade of life and predominantly in males. Clinical presentation depends on location and size and includes signs of increased intracranial pressure, visual disturbances, and endocrine abnormalities. Prognosis is generally poor.|ORDO|N|
C1332878|A dermoid cyst arising in the central nervous system.|NCI|N|
C1332879|A usually aggressive malignant neoplasm arising from the central nervous system. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern.|NCI|N|
C1332880|A unique group of rare tumors of the central nervous system that affect mainly children and adolescents. Their morphologic and biologic profile corresponds to that of homologous germ cell tumors that arise in the gonads and in other extragonadal sites. Representative examples include: germinoma, embryonal carcinoma, yolk sac tumor, choriocarcinoma, and teratoma.|NCI|N|
C1332881|A hamartoma that occurs in the central nervous system.|NCI|N|
C1332882|A neoplasm of hematopoietic origin that affects the brain, meninges, or spinal cord.|NCI|N|
C1332883|A teratoma involving the central nervous system and characterized by the presence of an extensive component of immature, fetal-type tissues.|NCI|N|
C1332884|Leukemia infiltrating the central nervous system structures.|NCI|N|
C1332885|A rare benign adipose tissue neoplasm of the central nervous system frequently found in midline locations such as the corpus callosum, the quadrigeminal plate, the hypothalamus, the spinal canal or the cauda equina. Some contain Schwann cells, bone, cartilage or hamartomatous blood vessels.|NCI|N|
C1332886|A mature teratoma arising in the central nervous system.|NCI|N|
C1332887|A primary tumor of the central nervous system that arises from leptomeningeal melanocytes. It may present as a diffuse proliferative leptomeningeal process (often as a component of the neurocutaneous melanosis complex) or as a distinct mass lesion.|NCI|N|
C1332888|A melanoma that affects the central nervous system. It is characterized by pleomorphism, melanin pigmentation, a high mitotic rate, necrosis, and hemorrhage. It is a highly aggressive and radioresistant tumor. The prognosis is usually poor.|NCI|N|
C1332890|An extra-adrenal paraganglioma arising from the central nervous system.|NCI|N|
C1332891|A malignant mesenchymal neoplasm with skeletal muscle differentiation affecting the central nervous system.|NCI|N|
C1332892|A sarcoma that arises from the central nervous system.|NCI|N|
C1332893|A benign or malignant mesenchymal neoplasm originating in the central nervous system or the meninges and showing fibrous, fibrohistiocytic, adipose, myoid, endothelial, chondroid or osseous, but not meningothelial differentiation. Depending on the histological features and clinical behavior of these neoplasms, their grade ranges from benign (WHO grade I) to highly malignant (WHO grade IV). (Adapted from WHO)|NCI|N|
C1332894|A T-cell lymphoblastic lymphoma or a mature T-cell and NK-cell neoplasm that affects the brain, meninges, or spinal cord.|NCI|N|
C1332895|A mature or immature teratoma that affects the central nervous system.|NCI|N|
C1332896|A benign papillary neoplasm that arises in a large duct of the breast. It is characterized by the presence of a fibrovascular core that is lined by benign epithelial and myoepithelial proliferations. Patients usually present with nipple discharge.|NCI|N|
C1332898|A centroblastic lymphoma that arises in a patient with a history of organ transplantation.|NCI|N|
C1332899|A glioblastoma that occurs in the cerebellum.|NCI|N|
C1332900|A hemangioblastoma of the cerebellum.|HPO|N|
C1332901|Glioneuronal and neuronal tumors occurring in the cerebellum.|NCI|N|
C1332902|A papillary meningioma that affects the cerebellum.|NCI|N|
C1332903|A medulloblastoma arising from the vermis of the cerebellum.|NCI|N|
C1332904|A central nervous system embryonal tumor, not otherwise specified arising from the cerebellopontine angle of the infratentorial brain.|NCI|N|
C1332905|A schwannoma occurring in the cerebellopontine angle.|NCI|N|
C1332906|A glioblastoma that occurs in the cerebrum.|NCI|N|
C1332907|A rare benign adipose tissue neoplasm within the cerebral hemisphere often associated with partial or complete agenesis of the corpus callosum.|NCI|N|
C1332908|A Hodgkin lymphoma that arises from the cerebral hemispheres as a primary lesion.|NCI|N|
C1332909|A non-Hodgkin lymphoma that arises in the cerebral hemispheres as a primary lesion.|NCI|N|
C1332910|An adenoma or carcinoma that arises from the ceruminous glands in the external auditory canal.|NCI|N|
C1332911|A rare, highly aggressive uterine cancer, macroscopically appearing as an irregular, slow-growing, non-friable, polypoid mass on the uterine cervix and histologically showing a pseudoglandular or cribriform growth pattern. It presents with vaginal bleeding and discharge and abdominal or pelvic pain. The tumor is highly infiltrative, often associated with vascular, lymphatic and perineural invasion, with subsequent haematogenous spread and early recurrence.|ORDO|N|
C1332912|A type of adenocarcinoma originating in the cervix and characterized by large cells with moderate to abundant clear cytoplasm.|HPO|N|
C1332913|A cervical adenocarcinoma with the histologic characteristics of the endometrioid adenocarcinoma of the endometrium. It is not associated with human papillomavirus infection.|NCI|N|
C1332916|A meningioma that arises from the meninges of the cervical region of the spinal cord.|NCI|N|
C1332917|Carcinosarcoma of the cervix uteri is a rare, malignant, mixed epithelial and mesenchymal tumor, located in the cervix uteri, composed of an admixture of carcinomatous and sarcomatous elements. It usually presents with abnormal vaginal bleeding and a round, well-defined, grey to yellowish-white, pedunculated polypoid mass protruding through the cervical canal. Association with HPV infection (especially serotype 16) has been frequently reported.|ORDO|N|
C1332918|A benign endocervical polypoid epithelial hyperplasia characterized by the presence of tightly packed glandular structures. It is usually seen in women on oral contraceptive therapy and during pregnancy.|NCI|N|
C1332919|A mucinous adenocarcinoma arising from the endocervical glandular epithelium. It is characterized by the presence of malignant glandular cells that contain significant amount of intracytoplasmic mucin. Histologic variants include intestinal-type, signet ring-type, gastric-type, cervical invasive stratified mucinous adenocarcinoma, and mucinous adenocarcinoma, not otherwise specified. All histologic variants except gastric-type adenocarcinoma are associated with human papillomavirus infection.|NCI|N|
C1332920|A non-neoplastic disorder that affects the cervix. Representative examples include endometriosis and cervicitis.|NCI|N|
C1332922|A neoplastic process that affects the squamous epithelium of the cervix. It is classified as cervical squamous intraepithelial neoplasia 1, 2, or 3, according to the degree of squamous cell maturation and cellular atypia, and the number of mitotic figures.|NCI|N|
C1332928|A non-neoplastic or neoplastic disorder that affects the structures of the chest wall. Representative examples include infection, chest wall lipoma, and chest wall lymphoma.|NCI|N|
C1332930|An extraabdominal fibromatosis arising from the soft tissue of the chest wall. It is characterized by the presence of elongated spindle-shaped fibroblasts, collagenous stroma formation, and an infiltrative growth pattern.|NCI|N|
C1332931|A Hodgkin lymphoma that affects the structures of the chest wall.|NCI|N|
C1332932|A benign adipose tissue neoplasm of the chest wall.|NCI|N|
C1332933|A lymphoma that affects the structures of the chest wall. The majority of cases are diffuse large B-cell lymphomas.|NCI|N|
C1332934|A parachordoma arising from the chest wall.|NCI|N|
C1332935|An intermediate fibrohistiocytic neoplasm arising from the skin in the chest wall. It is a multinodular poorly circumscribed tumor, characterized by the presence of multinucleated giant cells, mononuclear histiocyte-like cells, and spindle fibroblast-like cells arranged in a plexiform pattern.|NCI|N|
C1332936|A solitary plasmacytoma that arises in the chest wall.|NCI|N|
C1332937|An acute erythroid leukemia occurring in children.|NCI|N|
C1332941|An acute monoblastic and monocytic leukemia occurring in children.|NCI|N|
C1332942|An anaplastic large cell lymphoma that occurs during childhood.|NCI|N|
C1332943|An anaplastic oligodendroglioma that arises from the central nervous system and occurs during childhood.|NCI|N|
C1332944|A morphologic variant of embryonal rhabdomyosarcoma occurring in children. The tumor arises from organs with a mucosal epithelial surface. It is characterized by the formation of a cambium layer in the affected tissue and polypoid nodules within an abundant myxoid stroma.|NCI|N|
C1332945|A morphologic variant of embryonal rhabdomyosarcoma occurring in female children. The neoplasm arises from the vagina. It is characterized by the formation of a cambium layer in the affected tissue and polypoid nodules with an abundant myxoid stroma.|NCI|N|
C1332946|A morphologic variant of embryonal rhabdomyosarcoma occurring in female children. The neoplasm arises from the vulva. It is characterized by the formation of a cambium layer in the affected tissue and polypoid nodules with an abundant myxoid stroma.|NCI|N|
C1332947|An anaplastic astrocytoma that arises from the brain and occurs during childhood.|NCI|N|
C1332948|A germinoma arising from the brain during childhood.|NCI|N|
C1332949|An intracranial meningioma that occurs during childhood.|NCI|N|
C1332950|An astrocytoma that arises from the brain stem and occurs during childhood.|NCI|N|
C1332951|A neoplasm that affects the brain stem and occurs during childhood.|NCI|N|
C1332953|A germinoma arising from the central nervous system during childhood.|NCI|N|
C1332954|An immature teratoma that arises from the central nervous system and occurs during childhood.|NCI|N|
C1332955|A mature teratoma that arises from the central nervous system during childhood.|NCI|N|
C1332956|A mixed germ cell tumor that arises from the central nervous system and occurs during childhood.|NCI|N|
C1332957|A central nervous system embryonal tumor, not otherwise specified that occurs in childhood.|NCI|N|
C1332959|A neoplasm that affects the cerebellum and occurs during childhood.|NCI|N|
C1332961|A diffuse astrocytoma that arises from the cerebral hemispheres and occurs during childhood.|NCI|N|
C1332962|An embryonal tumor with multilayered rosettes, C19MC-altered that arises from the cerebral hemispheres and occurs in children.|NCI|N|
C1332963|A choroid plexus papilloma that arises in the brain during childhood.|NCI|N|
C1332964|A clear cell sarcoma of soft tissue occurring in children.|NCI|N|
C1332965|Congenital mesoblastic nephroma is a type of kidney tumor that is usually found before birth by ultrasound or within the first 3 months of life. It contains fibroblastic cells (connective tissue cells), and may spread to the other kidney or to nearby tissue.|HPO|N|
C1332966|A desmoplastic small round cell tumor occurring in children.|NCI|N|
C1332967|A diffuse large B-cell lymphoma that occurs during childhood.|NCI|N|
C1332968|An osteosarcoma that arises from the soft tissue and occurs during childhood.|NCI|N|
C1332969|A ganglioglioma that arises from the central nervous system and occurs during childhood.|NCI|N|
C1332971|A benign or malignant neoplasm that affects the liver and occurs during childhood.|NCI|N|
C1332972|An embryonal tumor with multilayered rosettes, C19MC-altered that arises from the infratentorial region and occurs in children.|NCI|N|
C1332973|A neoplasm that affects the infratentorial region of the brain and occurs during childhood.|NCI|N|
C1332974|A high grade malignant bone-forming mesenchymal neoplasm that produces osteoid and occurs in childhood. It arises from the medullary portion of the bone. It affects the long bones, and most commonly, the distal femur, proximal tibia, and proximal humerus. Pain with or without a palpable mass is the most common clinical presentation. It usually has an aggressive growth and may metastasize through the hematogenous route. The lung is the most frequent site of metastasis.|NCI|N|
C1332975|A neoplasm that arises within the skull and occurs during childhood.|NCI|N|
C1332976|A melanoma that arises from leptomeningeal melanocytes and occurs in childhood.|NCI|N|
C1332977|An acute or chronic leukemia that occurs during childhood.|NCI|N|
C1332978|Lymphocyte-rich classic Hodgkin lymphoma occurring in childhood.|NCI|N|
C1332979|A Hodgkin or non-Hodgkin lymphoma that occurs during childhood.|NCI|N|
C1332980|A mature T- and NK-cell non-Hodgkin lymphoma that occurs during childhood.|NCI|N|
C1332981|A peripheral nervous system neoplasm that arises in the mediastinum during childhood.|NCI|N|
C1332982|A rare mesenchymal chondrosarcoma that occurs during childhood.|NCI|N|
C1332983|A cystic neoplasm which arises from the kidney and occurs in children. It includes the cystic partially differentiated nephroblastoma and cases in which nephroblastomatous elements are not present.|NCI|N|
C1332984|A myxoid chondrosarcoma occurring in children.|NCI|N|
C1332985|A nodular lymphocyte predominant Hodgkin lymphoma occurring in children.|NCI|N|
C1332986|An osteosarcoma that occurs during childhood.|NCI|N|
C1332987|A non-gestational choriocarcinoma that arises from the ovary and occurs in children.|NCI|N|
C1332988|A dysgerminoma that arises from the ovary and occurs in children.|NCI|N|
C1332989|An embryonal carcinoma that arises from the ovary and occurs in children.|NCI|N|
C1332990|An immature teratoma that arises from the ovary and occurs in children.|NCI|N|
C1332991|A mature teratoma that arises from the ovary and occurs in children.|NCI|N|
C1332992|A teratoma that arises from the ovary and occurs in children.|NCI|N|
C1332993|A yolk sac tumor that arises from the ovary and occurs in children.|NCI|N|
C1332994|A low grade malignant bone-forming mesenchymal neoplasm arising from the surface of the bone. It occurs in childhood and usually affects the distal posterior femur, the proximal tibia, and proximal humerus. Painless swelling is the usual clinical sign. The prognosis is usually excellent.|NCI|N|
C1332995|A pilocytic astrocytoma that occurs during childhood.|NCI|N|
C1332996|A B-lymphoblastic lymphoma that occurs during childhood.|NCI|N|
C1332997|T lymphoblastic leukemia/lymphoma that occurs during childhood.|NCI|N|
C1332998|A T-lymphoblastic lymphoma that occurs during childhood.|NCI|N|
C1332999|An anaplastic large cell lymphoma that occurs during childhood and is limited to the skin at the time of diagnosis.|NCI|N|
C1333000|An angiomyolipoma that arises from the kidney and occurs during childhood.|NCI|N|
C1333001|A renal cell carcinoma that occurs during childhood.|NCI|N|
C1333003|A kidney neoplasm that occurs in children.|NCI|N|
C1333004|A neoplasm that affects the supratentorial region of the brain and occurs during childhood.|NCI|N|
C1333005|A systemic anaplastic large cell lymphoma that occurs during childhood.|NCI|N|
C1333006|A choriocarcinoma that arises from the testis during childhood.|NCI|N|
C1333007|An embryonal carcinoma that arises from the testis during childhood.|NCI|N|
C1333008|A malignant testicular mixed germ cell neoplasm that occurs during childhood. It is characterized by the presence of embryonal carcinoma and teratoma components.|NCI|N|
C1333009|A malignant mixed germ cell neoplasm that arises from the testis during childhood.|NCI|N|
C1333010|A neoplasm that affects the testis during childhood.|NCI|N|
C1333011|A teratoma that arises from the testis during childhood.|NCI|N|
C1333012|A yolk sac tumor that arises from the testis during childhood.|NCI|N|
C1333014|An astrocytoma that arises from the visual pathway and occurs during childhood.|NCI|N|
C1333015|A Wilms tumor of the kidney which occurs in children.|NCI|N|
C1333016|A yolk sac tumor that occurs during childhood.|NCI|N|
C1333019|An extraskeletal chondroma usually arising from the dura.|NCI|N|
C1333024|A choroid melanoma characterized by the presence of malignant large epithelioid melanocytes.|NCI|N|
C1333025|A melanoma arising from the choroid. It is characterized by the presence of a mixture of spindle A melanoma cells, spindle B melanoma cells, and epithelioid melanoma cells.|NCI|N|
C1333026|A choroid melanoma characterized by the presence of tumor cell necrosis.|NCI|N|
C1333027|A melanoma that arises from the choroid. It is characterized by the presence of spindle-shaped melanocytes.|NCI|N|
C1333028|A choroid melanoma characterized by the presence of malignant spindle-shaped melanocytes with slender nuclei and no visible nucleoli.|NCI|N|
C1333029|A choroid melanoma characterized by the presence of malignant spindle-shaped melanocytes with larger nuclei and distinct nucleoli.|NCI|N|
C1333032|An adult T-cell leukemia/ lymphoma associated with skin lesions and mild lymphadenopathy. Neoplastic lymphocytes are not numerous in the peripheral blood. Hypercalcemia is absent.|NCI|N|
C1333034|Chronic pain that results from cancer and/or its treatment. The mechanism for chronic cancer pain may be inflammatory, neuropathic, ischemic, and/or mechanical in nature.|NCI|N|
C1333036|A morphologic finding indicating the presence of reactive lymphocytes, lymphoplasmacytic cells, and/or reactive plasma cells in a tissue sample.|NCI|N|
C1333037|A recently recognized variant of chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL) expressing somatic hypermutations of the Immunoglobulin heavy chain (IGH) genes. The recognition of this variant alters the belief that CLL/SLL is always derived from a naive, pregerminal center B-cell. The presence of somatic hypermutations of IGH genes occurs in approximately 50% of CLL/SLL cases and implies a postgerminal center, memory origin. Patients with this variant of CLL/SLL have a favorable prognosis, with a reported median survival of more than 24 years.|NCI|N|
C1333038|A recently recognized variant of chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL) that lacks somatic hypermutations of the Immunoglobulin heavy chain (IGH) genes, implying pregerminal center B-cell origin. Microarray gene expression profiling studies have demonstrated the expression of ZAP-70 gene (Syk family tyrosine kinase) in this subset of CLL/CLL. Patients with this variant of CLL/SLL have an unfavorable prognosis compared to those with somatic hypermutations of the IGH genes, with a median survival of approximately 6-8 years.|NCI|N|
C1333039|Chronic lymphocytic leukemia characterized by the presence of somatic hypermutation within the immunoglobulin heavy chain gene variable region of neoplastic clones. Patients have a better prognosis as compared to those with unmutated immunoglobulin heavy chain gene variable region rearrangements.|NCI|N|
C1333040|A chronic lymphocytic leukemia characterized by the presence of neoplastic lymphocytes with plasmacytoid morphology.|NCI|N|
C1333041|Chronic lymphocytic leukemia characterized by the absence of somatic hypermutation within the immunoglobulin heavy chain gene variable region of neoplastic clones. Patients have a significantly worse prognosis as compared to those with mutated immunoglobulin heavy chain gene variable region rearrangements.|NCI|N|
C1333043|A chronic myelomonocytic leukemia characterized by the presence of less than 10 percent blasts in the bone marrow and less than 5 percent blasts in the peripheral blood.|NCI|N|
C1333044|A chronic myelomonocytic leukemia characterized by the presence of 10-19 percent blasts in the bone marrow and 5-19 percent blasts in the peripheral blood or by the presence of Auer rods regardless of the blasts count.|NCI|N|
C1333045|A chronic myelomonocytic leukemia characterized by a peripheral blood eosinophil count of equal or greater than 1.5x10E9/L, and absence of PDGFRA or PDGFRB gene abnormalities.|NCI|N|
C1333046|Chronic myeloproliferative disease, unclassifiable is a hematological neoplasm characterized by clonal proliferation of myeloid precursors in the bone marrow, blood and other tissues (spleen, liver), with clinical, morphological and molecular features of myeloproliferative neoplasms (MPN), failing to meet criteria of a specific MPN. The presentation is nonspecific and variable and often includes leukocytosis, thrombocytosis and anemia. Splenomegaly, hepatomegaly as well as fatigue, malaise or weight loss may appear in advanced stages.|ORDO|N|
C1333050|A ciliary body melanoma characterized by the presence of malignant large epithelioid melanocytes.|NCI|N|
C1333051|A melanoma arising from the ciliary body. It is characterized by the presence of a mixture of spindle A melanoma cells, spindle B melanoma cells, and epithelioid melanoma cells.|NCI|N|
C1333052|A melanoma that arises from the ciliary body. It is characterized by the presence of spindle-shaped melanocytes.|NCI|N|
C1333053|A ciliary body melanoma characterized by the presence of malignant spindle-shaped melanocytes with slender nuclei and no visible nucleoli.|NCI|N|
C1333054|A ciliary body melanoma characterized by the presence of malignant spindle-shaped melanocytes with larger nuclei and distinct nucleoli.|NCI|N|
C1333058|A morphologic variant of atypical fibroxanthoma characterized by the presence of atypical mitotic figures, high mitotic activity, and pleomorphic cells.|NCI|N|
C1333059|A benign well-circumscribed tumor, composed of lobules of mature adipocytes, that arises within subcutaneous tissue, deep soft tissues or on the surface of bones.|NCI|N|
C1333060|A benign epithelial tumor arising from the outer root sheath of hair follicles.|NCI|N|
C1333062|A variant of chromophobe renal cell carcinoma. It is characterized by the presence of large pale cells with thickened cell membranes.|NCI|N|
C1333063|A Burkitt lymphoma characterized by the presence of a uniform malignant lymphocytic infiltrate that is composed of medium-sized cells with round nuclei and multiple basophilic nucleoli, abundant mitotic figures, and a starry-sky pattern due to the presence of multiple tangible body macrophages.|NCI|N|
C1333064|A monoclonal B-cell lymphoproliferation in the vast majority of cases. It is characterized by a bimodal age distribution (15-30 years of life and late life). Epstein-Barr virus has been postulated to play a role in the pathogenesis of classic Hodgkin lymphoma. Morphologically, it is characterized by the presence of Reed-Sternberg cells and mononuclear Hodgkin cells. The Reed-Sternberg and mononuclear Hodgkin cells are CD30 positive in nearly all cases and CD15 positive in the majority of cases. Four histologic subtypes have been distinguished: lymphocyte-rich, nodular sclerosis, mixed cellularity, and lymphocyte-depleted classic Hodgkin lymphoma.|NCI|N|
C1333065|A rare benign lung tumor with perivascular epithelioid cell differentiation. It is composed of round or oval cells with abundant clear or eosinophilic cytoplasm and distinct cell borders. The vast majority of patients are asymptomatic and the tumors are discovered incidentally. Excision is curative.|NCI|N|
C1333068|A very rare, usually benign neoplasm with perivascular epithelioid cell differentiation characterized by the presence of clear spindle cells arranged in fascicles and nests that usually affects young girls. Patients usually present with a painful abdominal mass.|NCI|N|
C1333069|A rare, usually aggressive, primary thymic carcinoma, characterized by the presence of carcinoma cells with clear cytoplasm.|NCI|N|
C1333070|A carcinoma that arises from the clitoris.|NCI|N|
C1333071|A chordoma that arises from the clivus.|NCI|N|
C1333072|A chondroid chordoma that arises from the clivus.|NCI|N|
C1333073|A meningioma that affects the clivus.|NCI|N|
C1333074|A carcinoma that arises from the transitional zone at the junction of the rectum and anus.|NCI|N|
C1333081|An infiltrating pancreatic ductal adenocarcinoma, characterized by the presence of malignant cells floating in pools of mucin. It has a more favorable prognosis than the conventional infiltrating ductal adenocarcinoma. It often arises in association with intraductal pancreatic mucinous neoplasms and in some cases it may result in the development of pseudomyxoma peritonei.|NCI|N|
C1333082|An unusual colon carcinoma characterized by the presence of glandular and squamous carcinomatous components. The two carcinomatous components may be admixed within the tumor, or the two may appear separately in different areas.|NCI|N|
C1333083|A rare Burkitt lymphoma that arises from the colon.|NCI|N|
C1333084|A well differentiated, low grade neuroendocrine neoplasm (carcinoid tumor) that arises from the colon. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent.|NCI|N|
C1333085|A carcinoma that originates from the colonic wall and has spread to the liver.|NCI|N|
C1333086|A cavernous hemangioma arising from the colon.|NCI|N|
C1333087|A ganglioneuroma that arises from the colon. It usually presents as a small mucosal polyp.|NCI|N|
C1333089|An extranodal Hodgkin lymphoma that arises from the colon.|NCI|N|
C1333090|A non-neoplastic hamartomatous polyp that arises from the colon. It is characterized by the presence of tortuous and cystically dilated glands, edematous changes, and inflammation.|NCI|N|
C1333091|A Kaposi sarcoma arising from the colon.|NCI|N|
C1333092|A well-circumscribed benign smooth muscle neoplasm arising from the colon. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.|NCI|N|
C1333093|An aggressive malignant smooth muscle neoplasm that arises from the colon. It is characterized by a proliferation of neoplastic spindle cells.|NCI|N|
C1333094|A lymphangioma arising from the colon.|NCI|N|
C1333095|A mantle cell lymphoma that arises from the colon. It often presents as a polypoid lesion.|NCI|N|
C1333096|An extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue that arises from the colon.|NCI|N|
C1333097|A rare epithelial tumor of the large intestine, arising from enterochromaffin cells, most commonly in the cecum or ascending colon. The tumor is usually slow-growing and can be diagnosed as an incidental finding in an asymptomatic patient, while in the later stages patients can present with abdominal pain, palpable abdominal mass, changes in bowel habits, signs of bowel obstruction, gastrointestinal bleeding, anorexia, weight loss or, rarely, carcinoid syndrome (facial flushing, diarrhea, tachycardia, hypo- and hypertension, cardiac abnormalities).|ORDO|N|
C1333098|A malignant soft tissue neoplasm that arises from the colon. Representative examples include angiosarcoma, Kaposi sarcoma, and leiomyosarcoma.|NCI|N|
C1333099|An aggressive, high-grade, and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the colon. It is characterized by the presence of malignant small cells.|NCI|N|
C1333100|A rare epithelial tumour of the colon arising from squamous cells of the colorectal epithelium without the presence of squamous-lined fistulous tracts or a proximal extension of an anal squamous cell carcinoma. It usually presents with nonspecific symptoms, such as anorexia, weight loss, abdominal pain, changes of bowel habits, hematochesia or melena. Cases of severe, symptomatic hypercalcemia have been reported.|ORDO|N|
C1333102|A well differentiated neuroendocrine tumor that arises from the colon and produces serotonin.|NCI|N|
C1333106|An adenoma that arises from the colon or rectum. It is characterized by the presence of mild epithelial dysplasia.|NCI|N|
C1333107|An adenoma that arises from the colon or rectum. It is characterized by the presence of moderate epithelial dysplasia.|NCI|N|
C1333108|An adenoma that arises from the colon or rectum. It is characterized by the presence of severe epithelial dysplasia.|NCI|N|
C1333109|Gastrointestinal stromal tumor that arises from the colon or rectum. The majority of cases have spindle cell morphology.|NCI|N|
C1333110|A precancerous neoplastic process that affects the colon or rectum. It is characterized by moderate or severe epithelial dysplasia and complex architectural alterations of the mucosal epithelium. There is no evidence of invasion.|NCI|N|
C1333111|A non-neoplastic polypoid lesion in the colon and rectum. It may arise in a background of inflammatory bowel disease or colitis. It is characterized by the presence of a distorted epithelium, inflammation, and fibrosis.|NCI|N|
C1333112|A precancerous neoplastic process that affects the colon or rectum. It is characterized by low or high grade dysplasia of the mucosal epithelium. There is no evidence of invasion.|NCI|N|
C1333113|A well-circumscribed benign smooth muscle neoplasm arising from the colorectal area. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.|NCI|N|
C1333114|A rare benign adipose tissue neoplasm arising from the wall of the colon and rectum.|NCI|N|
C1333115|A precancerous neoplastic process that affects the colon or rectum. It is characterized by mild epithelial dysplasia and mild architectural alterations of the mucosal epithelium. There is no evidence of invasion.|NCI|N|
C1333116|An adenoma that arises from the colon or rectum. It is characterized by prominent serration of the glands.|NCI|N|
C1333117|A usually polypoid neoplasm that arises from the glandular epithelium of the colonic and rectal mucosa. It is characterized by a tubular architectural pattern. The neoplastic glandular cells have dysplastic features.|NCI|N|
C1333118|A neoplasm that arises from the glandular epithelium of the colonic and rectal mucosa. It is characterized by tubular and villous architectural patterns. The neoplastic glandular cells have dysplastic features.|NCI|N|
C1333119|A neoplasm that arises from the glandular epithelium of the colonic and rectal mucosa. It is characterized by a villous architectural pattern. The neoplastic glandular cells have dysplastic features.|NCI|N|
C1333120|A morphologic variant of papillary carcinoma of the thyroid gland characterized by the presence of pseudostratified malignant follicular cells.|NCI|N|
C1333121|A morphologic finding indicating the transformation of non-columnar epithelial cells into columnar cells.|NCI|N|
C1333122|A subtype of large cell neuroendocrine lung carcinoma characterized by the presence of large neuroendocrine cells in combination with adenocarcinoma, squamous cell carcinoma, giant cell carcinoma and/ or spindle cell carcinoma.|NCI|N|
C1333123|A lung carcinoma characterized by the presence of large or small neuroendocrine carcinoma cells in combination with malignant glandular or squamous epithelial cells.|NCI|N|
C1333125|A morphologic variant of small cell lung carcinoma in combination with a non-small cell carcinoma.|NCI|N|
C1333127|A morphologic finding that indicates the presence of a cancerous tumor with a central area that contains necrotic cancer cells.|NCI|N|
C1333133|An anaplastic large cell lymphoma, characterized by CD30 positive lymphoid cells.|NCI|N|
C1333134|Closely crowded or packed together.|NCI|N|
C1333137|A breast fibroadenoma that displays fibrocystic changes including apocrine metaplasia, sclerosing adenosis, and cyst formation.|NCI|N|
C1333138|A hyperplasia characterized by excessive proliferation of endometrial cells, resulting in the formation of complex epithelial structures. It is associated with cytologic atypia and an increased risk of endometrial adenocarcinoma.|NCI|N|
C1333139|A hyperplasia characterized by excessive proliferation of endometrial cells, resulting in the formation of complex epithelial structures. Epithelial atypia is absent.|NCI|N|
C1333141|Insomnia that results from a developed tendency to not sleep well under particular conditions.|NCI|N|
C1333142|A genetic disorder that affects the adrenal gland. It includes adrenal gland hyperplasia and adrenal gland hypoplasia.|NCI|N|
C1333144|A broad classification of inherited disorders presenting at birth that affect the initial immunologic response to infection. In these disorders, the primary role of innate immunity to detect and neutralize pathogens which the individual has not been previously exposed is decreased or ineffective.|NCI|N|
C1333147|A broad classification of inherited disorders presenting at birth that affect the cell-mediated aspect of the immune response. Circulating numbers of T lymphocytes are decreased or ineffective.|NCI|N|
C1333148|A precancerous neoplastic intraepithelial process involving the conjunctival squamous epithelium.|NCI|N|
C1333149|A papilloma that arises from the conjunctival squamous epithelium. It is associated with human papillomavirus infection.|NCI|N|
C1333150|A non-neoplastic or neoplastic disorder that affects the connective and soft tissue.|NCI|N|
C1333153|A neoplasm (disease) that involves the conus medullaris.|MONDO|N|
C1333154|An alveolar rhabdomyosarcoma characterized by the presence of large striated muscle cells with clear cytoplasm, giant cells with myoblastic differentiation, and fibrovascular septa.|NCI|N|
C1333155|An angiosarcoma characterized by the presence of malignant spindle endothelial cells.|NCI|N|
C1333156|A malignant mesenchymal neoplasm composed of fibroblasts, and characterized by collagen production and usually a herringbone architectural pattern.|NCI|N|
C1333157|An uncommon, aggressive malignant smooth muscle neoplasm. It is characterized by the presence of atypical large spindle or round cells, nuclear palisading, tumor cell necrosis, mitotic figures and may be associated with vascular invasion.|NCI|N|
C1333158|A malignant hemangiopericytoma characterized by the presence of necrotic changes and in some cases high mitotic activity.|NCI|N|
C1333159|A precancerous neoplastic intraepithelial process involving the corneal epithelium.|NCI|N|
C1333160|Pericallosal lipomas are congenital soft masses of adipose cells encapsulated by a thin layer of fibrous tissue, appearing adjacent to the corpus callosum of the brain.|HPO|N|
C1333162|A rare, self-limiting, rapidly growing, non-encapsulated benign osteolytic neoplasm that arises from the cranium. It is characterized by the presence of plump spindle-shaped fibroblasts, multinucleated osteoclast-like giant cells, chronic inflammatory infiltrate, red blood cell extravasation, and high mitotic activity.|NCI|N|
C1333163|A morphologic finding indicating the presence of sheets of malignant epithelial cells punctuated by gland-like spaces in a tissue sample.|NCI|N|
C1333171|A rare, indolent primary cutaneous B-cell lymphoma characterized by a solitary or grouped erythematous plaques or tumors, preferentially located on the head, neck or trunk region, and composed of centroblasts and centrocytes arranged in a follicular, diffuse, or mixed growth pattern. The lesions are smooth and typically do not ulcerate. The neoplastic cells express pan B cell markers and Bcl-6, and typically lack Bcl-2.|ORDO|N|
C1333172|A follicular lymphoma involving the skin. A cutaneous follicular lymphoma may be metastatic to the skin from the lymph nodes or other anatomic sites or primary (cutaneous follicle center lymphoma).|NCI|N|
C1333173|Hodgkin lymphoma primarily involving the skin. This diagnosis can only be made when there is no evidence of Hodgkin lymphoma in the lymph nodes or other anatomic sites. Patients usually present with papules or nodular lesions. Morphologically, primary cutaneous Hodgkin lymphoma may resemble lymphomatoid papulosis or anaplastic large cell lymphoma. Immunohistochemical tissue evaluation is essential in establishing the diagnosis.|NCI|N|
C1333174|An adipose tissue neoplasm arising from the skin.|NCI|N|
C1333175|A liposarcoma that arises from the skin.|NCI|N|
C1333176|A lymphangioma arising from the skin.|NCI|N|
C1333177|A lymphoproliferative disorder that affects the skin.|NCI|N|
C1333178|A myxoma originating in the skin.|HPO|N|
C1333179|A malignant vascular neoplasm arising from an area of skin exposed to radiation therapy.|NCI|N|
C1333190|A benign or malignant neoplasm that contains a single or multiple cystic spaces. Examples include cystadenoma, mucinous cystadenocarcinoma, and serous cystadenocarcinoma.|NCI|N|
C1333260|A rare, aggressive odontogenic malignant tumor that arises usually from the mandible and less frequently from the maxilla. It combines the histologic features of an ameloblastoma and carcinoma.|NCI|N|
C1333262|The cellular and vascular changes occurring in the endometrium at the time of implantation.|NCI|N|
C1333264|A morphologic variant of dermatofibrosarcoma protuberans characterized by the presence of poorly differentiated sarcomatous components.|NCI|N|
C1333265|A hemangioma arising from the deep soft tissues.|NCI|N|
C1333266|A rare benign smooth muscle neoplasm arising from deep tissue. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.|NCI|N|
C1333267|A benign well-circumscribed tumor, composed of mature adipocytes, that arises within deep soft tissues.|NCI|N|
C1333268|A distinctive melanocytic nevus characterized by a sharply demarcated, circumscribed, and usually wedge-shaped configuration, with the base toward the epidermis and the tip toward the reticular dermis and subcutis. It may simulate melanoma both clinically and histologically.|NCI|N|
C1333269|A meningioma that is associated with deletion of chromosome 22. This abnormality is the most consistent cytogenetic finding that is detected in meningiomas.|NCI|N|
C1333270|A meningioma that is associated with deletion of chromosomal arm 3p.|NCI|N|
C1333271|A meningioma that is associated with deletion of chromosomal arm 1p.|NCI|N|
C1333274|An infectious process that affects the teeth and/or the periodontal tissues.|NCI|N|
C1333275|A benign neoplasm arising from the dermis. It is characterized by the presence of spindle-shaped fibroblasts.|NCI|N|
C1333277|A morphologic variant of dermatofibrosarcoma protuberans characterized by areas of fibroblastoma like-differentiation, and the presence of giant cells.|NCI|N|
C1333278|A dermoid cyst that arises from the spinal cord.|NCI|N|
C1333279|A well differentiated, low grade neuroendocrine neoplasm (carcinoid tumor) that arises from the descending colon. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent.|NCI|N|
C1333280|A melanoma of the skin characterized by a proliferation of atypical spindled melanocytes in the dermis, in a background of abundant collagen. It usually presents as an amelanotic raised nodular lesion.|NCI|N|
C1333283|A meningioma that arises from the diaphragma sellae.|NCI|N|
C1333284|A astrocytoma that involves the diencephalon.|MONDO|N|
C1333285|A glioblastoma that occurs in the diencephalon.|NCI|N|
C1333287|A granulocytic sarcoma composed of promyelocytes and more mature neutrophils (WHO 2001).|NCI|N|
C1333290|A lymphoma with the morphologic and immunophenotypic features of a follicular lymphoma that shows entirely a diffuse pattern. It is usually seen in small biopsy specimens and most probably represents a diffuse area of a follicular lymphoma.|NCI|N|
C1333291|A very rare condition characterized by generalized proliferation of pulmonary neuroendocrine cells. It manifests as progressive cough and dyspnea. It is considered a precursor for pulmonary carcinoid tumor.|NCI|N|
C1333292|This is usually an oligoclonal CD8+ lymphocytic infiltration of various organs.|NCI|N|
C1333293|A diffuse large B-cell lymphoma that arises in a patient with a history of organ transplantation.|NCI|N|
C1333294|A very rare variant of diffuse large B-cell lymphoma mainly affecting middle-aged immunocompetent men with features of a consistent primary involvement of lymph nodes (mainly in the cervical and mediastinum lymph nodes) and with infrequent extra nodal involvement of the bone marrow and other extra-nodal sites (head and neck region, liver, spleen, and gastrointestinal tract). It has an aggressive disease course, and is associated with a poor prognosis.|SNOMEDCT_US|N|
C1333295|A biologic subset of diffuse large B-cell lymphomas with a unique molecular signature or expression profile. It represents approximately 50% of diffuse large B-cell lymphomas, and is characterized by the expression of CD10, BCL-6, A-myb, and LMO2 genes, BCL-2 translocation, and c-REL amplification. Morphologically, the vast majority of these lymphomas are centroblastic and a small minority are immunoblastic (ratio20:1). Patients with this type of diffuse large B-cell lymphoma have a more favorable outcome, with a 5-year survival rate of 60% and a median survival of 10 years.|NCI|N|
C1333296|A biologic subset of diffuse large B-cell lymphomas with a unique molecular signature or expression profile. It represents approximately 30% of diffuse large B-cell lymphomas, and is characterized by the expression of CD44, PKCbeta1, Cyclin D2, BCL-2, and IRF4/MUM1 genes. Morphologically, these lymphomas are either centroblastic or immunoblastic (ratio 2:1). Patients with this type of diffuse large B-cell lymphoma are reported to have a less favorable outcome compared to those with a germinal center B-cell expression profile, with a 5-year survival rate of 35% and a median survival of 2 years.|NCI|N|
C1333297|A variant of lymphomatoid papulosis characterized clinically by regressing skin papules, and morphologically by features resembling anaplastic large cell lymphoma.|NCI|N|
C1333298|A neoplastic process characterized by a diffuse poorly circumscribed overgrowth of adipose tissue. It has been associated with several genetic disorders and different clinical conditions such as liver disease, excessive alcohol intake, adrenocortical steroid therapy, and antiretroviral therapy.|NCI|N|
C1333299|A morphologic architectural pattern in which a cellular population is distributed in a relatively uniform fashion throughout a specified tissue area; not focal.|NCI|N|
C1333305|A term that refers to the classification of a disorder according to the anatomic site that is involved in the pathologic process.|NCI|N|
C1333306|An epithelioid sarcoma involving the extremities. It usually presents as nodular masses in the dermis and subcutaneous tissues or in the tendons and fascia. It frequently recurs and metastasizes to other anatomic sites. The most common sites of metastasis are the lungs, lymph nodes, bones, and brain.|NCI|N|
C1333308|A carcinoma that arises from the common bile duct distal to the insertion of the cystic duct.|NCI|N|
C1333309|A malignant tumor that has spread from its original (primary) site of growth to another site distant from the primary site.|NCI|N|
C1333310|Abnormal functioning of the small and/or large intestine.|NCI|N|
C1333313|An intradural extramedullary spinal metastasis from an intracranial tumor through the cerebrospinal fluid.|NCI|N|
C1333319|An invasive breast carcinoma characterized by the presence of a predominant squamous cell component that is admixed with the ductal carcinomatous component.|NCI|N|
C1333320|A somatostatin-producing neuroendocrine tumor that arises from the duodenum.|NCI|N|
C1333321|A gastrin-producing neuroendocrine tumor that arises from the duodenum. It is characterized by the presence of uniform cells that form pseudorosettes. The neoplastic cells have uniform nuclei and small amount of eosinophilic cytoplasm.|NCI|N|
C1333322|A neoplasm that arises from the glandular epithelium of the duodenum. It is characterized by a villous architectural pattern. The neoplastic glandular cells have dysplastic features.|NCI|N|
C1333324|Epithelial dysplasia that develops in Barrett esophagus. It is classified as low or high grade. When technical reasons make the interpretation of atypia difficult, atypia is present but it is not quite to the level of dysplasia, or atypia is present at the bases of the crypts but does not reach the surface of the crypts, then the diagnosis of Barrett esophagus-indefinite for dysplasia is made.|NCI|N|
C1333369|A cervical adenocarcinoma with minimal stromal invasion. The risk of local lymph node metastasis is insignificant and the prognosis is excellent.|NCI|N|
C1333370|A cervical squamous cell carcinoma with minimal stromal invasion. The risk of lymph node metastasis is low.|NCI|N|
C1333371|A neoplasm involving the eccrine glands.|NCI|N|
C1333372|A hamartoma characterized by localized eccrine sweat gland malformation.|NCI|N|
C1333373|A meningothelial neoplasm that arises from an anatomic site outside the intracranial and intraspinal compartments.|NCI|N|
C1333374|A syndrome characterized by abnormal secretion of parathyroid hormone in conjunction with neoplastic growth occurring anywhere in the body.|NCI|N|
C1333375|A condition in which the thymus gland is abnormally located; this can be secondary to failure of descent during fetal development, or failure of involution.|NCI|N|
C1333377|A malignant germ cell tumor of the central nervous system composed of large cells that proliferate in cohesive nests and sheets. In rare occasions, tumor cells may replicate the structure of the early embryo, forming ""embryoid bodies"" replete with germ discs and miniature amniotic cavities. Additional morphologic characteristics include enlarged nucleoli, abundant clear to somewhat violet-hued cytoplasm, a high mitotic rate and zones of coagulative necrosis. (Adapted from WHO)|NCI|N|
C1333378|A malignant neoplasm of embryonal origin, arising from the central nervous system. It usually affects children. Representative examples include ependymoblastoma, medulloblastoma, and atypical teratoid/rhabdoid tumor.|NCI|N|
C1333379|The movement of one cell within another cell (non-phagocytic).|MSH|N|
C1333383|A thymoma that is confined within the capsule and may display benign or malignant morphologic characteristics.|NCI|N|
C1333384|A Kaposi sarcoma that occurs in adults and children in Equatorial Africa.|NCI|N|
C1333385|A benign neoplasm that arises endobronchially. It is characterized by the presence of mesenchymal tissues admixed with entrapped respiratory epithelium. It presents with signs and symptoms of bronchial obstruction. Bronchoplastic resection is usually curative. Recurrence is very rare.|NCI|N|
C1333386|A benign smooth muscle neoplasm arising endobronchially. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.|NCI|N|
C1333387|A group of signs, symptoms, and clinicopathological characteristics that result from the pathologic function of one or more endocrine organs.|NCI|N|
C1333389|Patient complaints, physical findings, laboratory findings referable to the endocrinologic system.|NCI|N|
C1333396|A primary carcinoma of the endometrium characterized by the presence of malignant squamous cells.|NCI|N|
C1333400|A well-defined area of unequivocally increased signal intensity on MRI or CT scan images compared with the normal-appearing surrounding tissues, following intravenous injection of gadolinium-based contrast material.|NCI|N|
C1333401|A well differentiated, low grade neuroendocrine neoplasm (carcinoid tumor) arising from the gastrointestinal tract. It is characterized by the presence of enterochromaffin-like type granules in the neoplastic cells.|NCI|N|
C1333405|A variant of chromophobe renal cell carcinoma in which more than 80% of the malignant cells have granular, eosinophilic cytoplasm.|NCI|N|
C1333407|A tumor of neurectodermal origin arising from ependymal cells that line the ventricles and central canal of the spinal cord, that can occur in both children and adults, and that is characterized by wide a range of clinical manifestations depending on the location of the tumor, such as intracranial hypertension for tumors originating in the posterior fossa, behavioural changes and pyramidal signs for supratentorial tumors, and dysesthesia for tumors of the spinal cord. They can be classified as myxopapillary ependymoma, subependymoma, ependymoma (low grade tumors) or anaplastic ependymoma (grade III tumors).|ORDO|N|
C1333411|A rare benign adipose tissue neoplasm of the epicardium of the heart.|NCI|N|
C1333414|A benign epithelial verrucous lesion of the skin. Morphologically, it is characterized by the presence of epidermolytic hyperkeratosis and papillomatosis.|NCI|N|
C1333415|A benign, usually asymptomatic small mesothelial tumor that arises from the epididymis.|NCI|N|
C1333416|An uncommon lipoma characterized by prominent vascularity arising in the epidural space of the spinal canal.|NCI|N|
C1333417|A meningioma that arises in the epidural spinal canal space.|NCI|N|
C1333418|A disorder seen following cancer chemotherapy. It typically manifests a few years after initiation of epipodophyllotoxin chemotherapy. Mutagenic potential of these non-intercalating DNA topoisomerase II inhibitors is believed to be increased with concurrent use of asparaginase or granulocyte colony-stimulating factor. Balanced translocations involving chromosomal bands 11q23 and 21q22 are commonly associated with this disorder. Clinical signs may include fatigue, dyspnea, bruising and frequent infections. Clinical course usually progresses to acute myeloid leukemia though most epipodophyllotoxin-related leukemias do not have an antecedent myelodysplastic phase. Prognosis is dismal with survivability usually less than one year.|NCI|N|
C1333419|A benign or malignant epithelial neoplasm that affects the liver.|NCI|N|
C1333420|A non-encapsulated, well defined pulmonary blastoma, composed of irregular tubular structures. It affects mostly middle-aged adults and it is rare in children. The prognosis is better compared to the biphasic pulmonary blastoma.|NCI|N|
C1333422|A uveal melanoma characterized by the presence of malignant large epithelioid melanocytes.|NCI|N|
C1333424|An epithelioid sarcoma with less than 15% necrosis.|NCI|N|
C1333425|An epithelioid sarcoma with more than 15% necrosis.|NCI|N|
C1333427|Burkitt lymphoma that is caused by Epstein-Barr virus infection.|NCI|N|
C1333428|Carcinoma that develops in individuals infected with Epstein-Barr virus (EBV), and in which there is a well-documented association between the neoplastic process and EBV.|NCI|N|
C1333429|A clonal lymphoproliferative disorder that develops following an organ transplantation and is caused by Epstein-Barr virus infection.|NCI|N|
C1333430|Hodgkin lymphoma that is caused by Epstein-Barr virus infection.|NCI|N|
C1333431|Lymphoma that is caused by Epstein-Barr virus infection.|NCI|N|
C1333432|A malignant neoplasm that develops in a patient infected with Epstein-Barr virus (EBV) and in which there is a well-documented association between the malignancy and EBV. Representative examples include EBV-related lymphomas and carcinomas.|NCI|N|
C1333433|Non-Hodgkin lymphoma that is caused by Epstein-Barr virus infection.|NCI|N|
C1333438|A neoplasm affecting cells of the erythroid lineage.|NCI|N|
C1333441|An infrequent esophageal carcinoma arising from esophageal glands. (WHO)|NCI|N|
C1333443|A rare morphologic variant of esophageal squamous cell carcinoma. Histologically, it is composed of closely packed cells with hyperchromatic nuclei and scant basophilic cytoplasm. It has a similar prognosis to the conventional squamous cell carcinoma of the esophagus. (WHO)|NCI|N|
C1333444|A rare, well differentiated, low grade neoplasm with neuroendocrine differentiation that arises from the esophagus. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent. The majority of cases have a polypoid appearance, are small lesions, and found incidentally.|NCI|N|
C1333445|A benign neoplasm arising from the fibrous soft tissue of the esophagus. It is characterized by the presence of spindle-shaped fibroblasts.|NCI|N|
C1333446|A gastrointestinal stromal tumor that arises from the esophagus. The majority are spindle cell tumors that exhibit high mitotic activity and affect the distal esophagus.|NCI|N|
C1333447|A lesion in which the architectural and cytologic abnormalities involve either the lower or both the lower and the upper half of the esophageal glandular epithelium.|NCI|N|
C1333448|A tumor that usually presents with small nodules or small sessile polyps, predominantly in the distal esophagus. Histologically, it is composed of sheets of oval to polygonal cells with a small central nucleus and abundant granular cytoplasm. This is usually a benign tumor. (WHO, 2000)|NCI|N|
C1333449|A lesion in which the architectural and cytologic abnormalities involve both the lower and the upper half of the esophageal glandular epithelium.|NCI|N|
C1333450|A lesion in which the architectural and cytologic abnormalities involve both the lower and the upper half of the esophageal mucosa. It includes lesions termed moderate dysplasia, and carcinoma in situ (severe dysplasia). (WHO, 2000)|NCI|N|
C1333451|A lesion in which the architectural and cytologic abnormalities involve both the lower and the upper half of the esophageal squamous epithelium.|NCI|N|
C1333452|A very rare Hodgkin lymphoma that arises from the esophagus.|NCI|N|
C1333453|A Kaposi sarcoma arising from the esophagus.|NCI|N|
C1333454|An aggressive malignant smooth muscle neoplasm, arising from the esophagus. It is characterized by a proliferation of neoplastic spindle cells.|NCI|N|
C1333455|A benign adipose tissue neoplasm of the esophagus. Clinical presentation includes obstruction, dysphagia, regurgitation, vomiting and reflux. It may be associated with aspiration and consecutive respiratory infections.|NCI|N|
C1333456|A malignant adipose tissue neoplasm of the esophagus, characterized by multivacuolated lipoblasts with hyperchromatic nuclei, a solid pattern of growth, and a rich vascular network. It arises from the mucosal and submucosal layers of the lower esophagus. Clinical presentation includes progressive dysphagia, nausea, throat discomfort, and foreign body sensation.|NCI|N|
C1333457|A lesion in which the architectural and cytologic abnormalities are confined to the lower half of the esophageal glandular epithelium.|NCI|N|
C1333458|A lesion in which the architectural and cytologic abnormalities are confined to the lower half of the esophageal squamous epithelium.|NCI|N|
C1333459|An extranodal lymphoma that arises from the esophagus with the bulk of the mass located in the esophagus. Dysphagia may be the presenting symptom. The vast majority of cases are diffuse large B-cell lymphomas and B-cell lymphomas of the mucosa-associated lymphoid tissue.|NCI|N|
C1333460|A melanoma affecting the esophageal wall. Melanoma in the esophagus is more commonly metastatic than primary. Primary melanomas of the esophagus are polypoid and clinically aggressive. (WHO, 2000)|NCI|N|
C1333461|A rare carcinoma of the esophagus which contains squamous cells, mucus secreting cells, and cells of an intermediate type. (WHO)|NCI|N|
C1333462|A neoplasm with neuroendocrine differentiation that arises from the esophagus. It includes neuroendocrine tumors (well-differentiated neuroendocrine neoplasms) and neuroendocrine carcinomas (poorly differentiated neuroendocrine neoplasms).|NCI|N|
C1333463|A non-metastasizing encapsulated neoplasm arising from nerves in the esophagus. Morphologically, it is characterized by the presence of fibroblasts and Schwann cells.|NCI|N|
C1333464|An extranodal non-Hodgkin lymphoma that arises from the esophagus with the bulk of the mass located in the esophagus. Dysphagia may be the presenting symptom. The vast majority of cases are diffuse large B-cell lymphomas and B-cell lymphomas of the mucosa-associated lymphoid tissue.|NCI|N|
C1333466|A malignant soft tissue neoplasm that arises from the esophagus. Representative examples include Kaposi sarcoma, leiomyosarcoma, rhabdomyosarcoma, and synovial sarcoma.|NCI|N|
C1333467|A rare benign epithelial tumor that is usually asymptomatic but can present with pyrosis and epigastric discomfort with or without dysphagia. Histopathologically, esophageal squamous papilloma has fingerlike projections lined with acanthotic stratified squamous epithelium with conservation of normal cellular with or without cellular atypia.|HPO|N|
C1333468|A lesion in which the architectural and cytologic abnormalities involve either the lower or both the lower and the upper half of the esophageal squamous epithelium.|NCI|N|
C1333470|A rare variant of esophageal squamous cell carcinoma. It is an exophytic, cauliflower-like or papillary mass that can arise in any part of the esophagus. This variant of squamous cell carcinoma grows slowly and invades locally, with a very low metastasizing potential. (WHO)|NCI|N|
C1333472|An adenocarcinoma that arises from the ethmoid sinus.|NCI|N|
C1333473|An adenoid cystic carcinoma that affects the ethmoid sinus.|NCI|N|
C1333474|A benign neoplasm that arises from the ciliated respiratory mucosa that lines the ethmoid sinus. It results from the invagination and proliferation of epithelial cells in the underlying stroma.|NCI|N|
C1333475|An extremely rare meningioma that arises as a primary ectopic tumor in the ethmoid sinus.|NCI|N|
C1333476|A papilloma that arises from the ciliated respiratory mucosa that lines the ethmoid sinus.|NCI|N|
C1333477|A squamous cell carcinoma that arises from the mucosal epithelial surface of the ethmoid sinus. Patients may present with nasal fullness, obstruction, and/or epistaxis.|NCI|N|
C1333481|A spectrum of malignant tumors arising from the bone and characterized morphologically by the presence of small round cells. Ewing sarcoma and peripheral primitive neuroectodermal tumor represent the ends of a spectrum, with Ewing sarcoma lacking evidence of neural differentiation and the markers that characterize the peripheral primitive neuroectodermal tumor. Ewing sarcoma and peripheral primitive neuroectodermal tumor may share cytogenetic abnormalities, proto-oncogene expression, cell culture and immunohistochemical abnormalities. Pain and the presence of a mass are the most common clinical symptoms.|NCI|N|
C1333482|A non-neoplastic trophoblastic disorder characterized by the presence of an increased number of implantation-site intermediate trophoblasts infiltrating the endometrium and myometrium extensively. It is associated with pregnancy or abortion.|NCI|N|
C1333490|Actinic keratosis that develops in the skin of the external ear.|NCI|N|
C1333491|A basal cell carcinoma that arises from the skin of the external ear.|NCI|N|
C1333492|A carcinoma that arises from the external ear. This category includes squamous cell carcinoma, basal cell carcinoma, and ceruminous adenocarcinoma.|NCI|N|
C1333494|A squamous cell carcinoma that arises from the skin of the external ear.|NCI|N|
C1333495|A sympathetic paraganglioma arising from the retroperitoneum, outside the adrenal gland.|NCI|N|
C1333499|A neuroblastoma arising from an anatomic site other than the brain.|NCI|N|
C1333500|A rare gastrointestinal stromal tumor that presents as a solitary mass outside the gastrointestinal tract.|NCI|N|
C1333503|A well differentiated, low grade neuroendocrine neoplasm (carcinoid tumor) that arises from the extrahepatic bile ducts. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent.|NCI|N|
C1333504|A mucinous cystic neoplasm that arises from the extrahepatic bile ducts.|NCI|N|
C1333505|An embryonal rhabdomyosarcoma that arises from the extrahepatic bile ducts.|NCI|N|
C1333506|A benign neoplasm arising from the extra hepatic bile duct. It is characterized by the presence of spindle-shaped fibroblasts.|NCI|N|
C1333507|A benign smooth muscle neoplasm arising from an extrahepatic bile duct. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.|NCI|N|
C1333508|An aggressive malignant smooth muscle neoplasm, arising from an extrahepatic bile duct. It is characterized by a proliferation of neoplastic spindle cells.|NCI|N|
C1333509|A rare benign adipose tissue neoplasm of the extrahepatic bile duct.|NCI|N|
C1333510|An adenoma that arises from the extrahepatic bile ducts. It is characterized by the presence of a papillary growth pattern.|NCI|N|
C1333511|An intraductal papillary neoplasm that arises from the epithelium of the extrahepatic bile ducts.|NCI|N|
C1333512|An adenoma that arises from the extrahepatic bile ducts. It is characterized by the presence of a tubular pattern.|NCI|N|
C1333513|An ameloblastoma that arises from the soft tissues in the gingiva or alveolar mucosa. It presents as a painless exophytic mass.|NCI|N|
C1333514|A spectrum of malignant tumors arising from the soft tissues, characterized morphologically by the presence of small round cells. Ewing sarcoma and peripheral primitive neuroectodermal tumor represent the ends of a spectrum, with Ewing sarcoma lacking evidence of neural differentiation and the markers that characterize the peripheral primitive neuroectodermal tumor. Ewing sarcoma and peripheral primitive neuroectodermal tumor may share cytogenetic abnormalities, proto-oncogene expression, cell culture and immunohistochemical abnormalities. Pain and the presence of a mass are the most common clinical symptoms.|NCI|N|
C1333515|A benign or malignant mesenchymal neoplasm with cartilaginous or osseous differentiation arising from the soft tissues exclusively. Representative examples include chondroma, osteoma, and osteosarcoma.|NCI|N|
C1333518|A rare benign overgrowth of bone arising from extraskeletal sites.|NCI|N|
C1333520|Symptoms, physical examination results, and/or laboratory test results related to the organs of special sense.|NCI|N|
C1333558|Lesion affects the lungs, with or without known genital structures invasion.|NCI|N|
C1333559|Lesion invades outside of the uterus, but it is limited to the genital structures.|NCI|N|
C1333563|Gestational trophoblastic tumor in all other metastatic sites.|NCI|N|
C1333564|Lesion is confined to the uterus.|NCI|N|
C1333590|An adenocarcinoma that arises from the fallopian tube. Histologic subtypes include clear cell, endometrioid, serous, and mucinous adenocarcinoma. It spreads to adjacent organs, regional lymph nodes, and peritoneum.|NCI|N|
C1333591|A rare adenocarcinoma of the fallopian tube composed of malignant glandular epithelium containing clear cells.|NCI|N|
C1333592|An adenocarcinoma that arises from the fallopian tube and resembles the endometrioid adenocarcinoma of the uterus. It usually has a favorable prognosis.|NCI|N|
C1333593|A malignant trophoblastic tumor that arises from the fallopian tube during pregnancy.|NCI|N|
C1333594|A non-neoplastic disorder that affects the fallopian tube. Representative examples include acute and chronic salpingitis, salpingitis isthmica nodosa, and endometriosis.|NCI|N|
C1333595|An adenocarcinoma that arises from the fallopian tube and is characterized by a papillary architectural pattern.|NCI|N|
C1333596|A rare squamous cell carcinoma that arises from the fallopian tube.|NCI|N|
C1333597|A meningioma that affects the falx cerebri.|NCI|N|
C1333598|A medulloblastoma developing in patients with familiar adenomatous polyposis syndrome. It is observed in patients with Turcot syndrome, type 2.|NCI|N|
C1333600|Malignant neoplasms occurring in families at a rate greater than that expected by chance and caused by germline mutations in a specific gene.|NCI|N|
C1333603|A non-neoplastic disorder that affects the female reproductive system. Representative examples include endometriosis, pelvic inflammatory disease, and endometritis.|NCI|N|
C1333604|A precancerous lesion that arises from the female reproductive system. Representative examples include atypical endometrial hyperplasia, endometrial intraepithelial neoplasia, and cervical intraepithelial neoplasia.|NCI|N|
C1333606|An occlusive disease of the femoropopliteal vascular system.|NCI|N|
C1333612|A self-limited benign neoplasm composed of spindle cells and osteoblasts. It usually occurs in the subcutaneous tissue of the proximal phalanx. Less frequently, it involves the toe. It presents with swelling and pain of the affected area. The prognosis is excellent. However, incomplete excision may lead to the re-growth of the lesion.|NCI|N|
C1333615|A morphologic finding that indicates the presence of reactive fibrotic stroma in a tissue sample.|NCI|N|
C1333618|A term that refers to the classification of a clinical or laboratory finding according to the anatomic site or system that is involved.|NCI|N|
C1333620|A breast lesion characterized by the presence of dilated terminal ductal lobular units in which the epithelial lining has been replaced by a single layer of mildly atypical cells, or there is atypical, monotonous epithelial hyperplasia of three to five layers. This lesion relates to columnar cell change with atypia and columnar cell hyperplasia with atypia.|NCI|N|
C1333621|A type of hyperplasia that is characterized by a marked thickening of the urinary tract epithelium. There is no evidence of cytologic atypia. -- 2003|NCI|N|
C1333625|Focal active colitis (FAC) is characterized by focal crypt damage caused by neutrophils. FAC is characterized by an inflammatory infiltrate consisting of intraepithelial neutrophils and/or neutrophils invading the lumen of the criptae, with no other microscopic alteration of the colonic mucosa and, in particular, without the presence of signs of chronic inflammation.|HPO|N|
C1333627|A non-neoplastic disorder characterized by the formation of reactive lymphoid follicles adjacent to distal bronchi and bronchioles. It presents with mild shortness of breath and is associated with immunodeficiency syndromes and collagen vascular disorders.|NCI|N|
C1333630|A meningioma that affects the foramen magnum.|NCI|N|
C1333631|A neuroendocrine tumor grade 1 that arises from the lung, thymus, esophagus, stomach, or duodenum.|NCI|N|
C1333636|A hyperplasia of the gastric foveolar epithelium.|NCI|N|
C1333643|A meningioma that affects the frontal sulcus.|NCI|N|
C1333644|A benign neoplasm that arises from the ciliated respiratory mucosa that lines the frontal sinus. It results from the invagination and proliferation of epithelial cells in the underlying stroma.|NCI|N|
C1333645|A papilloma that arises from the ciliated respiratory mucosa that lines the frontal sinus.|NCI|N|
C1333646|A squamous cell carcinoma that arises from the mucosal epithelial surface of the frontal sinus. Patients may present with nasal fullness, obstruction, and/or epistaxis.|NCI|N|
C1333741|A carcinoma that arises from the gallbladder. It is characterized by the presence of glandular and squamous malignant epithelial components.|NCI|N|
C1333742|A malignant vascular neoplasm arising from the gallbladder.|NCI|N|
C1333743|A polypoid tumor that arises from the gallbladder. It is characterized by the presence of elongated, serrated crypts lined by proliferative epithelium.|NCI|N|
C1333744|A Kaposi sarcoma arising from the gallbladder.|NCI|N|
C1333745|A benign smooth muscle neoplasm arising from the gallbladder. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.|NCI|N|
C1333746|An aggressive malignant smooth muscle neoplasm, arising from the gallbladder. It is characterized by a proliferation of neoplastic spindle cells.|NCI|N|
C1333747|A benign adipose tissue neoplasm involving the gallbladder wall.|NCI|N|
C1333748|A lymphoma that arises from the gallbladder, with the bulk of the tumor located at this site.|NCI|N|
C1333749|A melanoma that arises from the gallbladder.|NCI|N|
C1333750|An adenocarcinoma that arises from the gallbladder. It is characterized by the presence of extracellular mucin that constitutes more than fifty-percent of the tumor.|NCI|N|
C1333751|A non-metastasizing encapsulated neoplasm arising from nerves in the gallbladder. Morphologically, it is characterized by the presence of fibroblasts and Schwann cells.|NCI|N|
C1333753|An intraluminal papillary neoplasm, usually with high grade intraepithelial neoplasia, that arises from the gallbladder. It is associated with the presence of an invasive carcinoma. The carcinomatous component is usually an adenocarcinoma.|MONDO|N|
C1333754|An intracholecystic papillary neoplasm that arises from the epithelium of the gallbladder. Intraepithelial neoplasia is present.|NCI|N|
C1333756|A malignant mesenchymal tumor with skeletal muscle differentiation affecting the gallbladder.|NCI|N|
C1333757|A malignant soft tissue neoplasm that arises from the gallbladder. Representative examples include Kaposi sarcoma, leiomyosarcoma, and rhabdomyosarcoma.|NCI|N|
C1333758|An adenocarcinoma that arises from the gallbladder. It is characterized by the presence of signet ring malignant epithelial cells.|NCI|N|
C1333759|An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the gallbladder. It is characterized by the presence of malignant small cells.|NCI|N|
C1333760|A meningioma that affects the trigeminal ganglion.|NCI|N|
C1333761|A carcinoma that arises from the stomach and is characterized by the presence of malignant cells with glandular and squamous differentiation.|NCI|N|
C1333762|An adenocarcinoma that arises from the gastric cardia. The majority of cases have been reclassified as gastroesophageal junction adenocarcinomas.|NCI|N|
C1333763|A carcinoma that arises from the gastric cardia.|NCI|N|
C1333764|Non-neoplastic polyps that arise from the stomach and are often indistinguishable from hyperplastic polyps. They may be associated with the presence of polyps in other parts of the gastrointestinal tract. Associated clinical signs and symptoms are nail atrophy, alopecia, and hyperpigmentation.|NCI|N|
C1333767|A well differentiated neuroendocrine tumor that arises from the stomach. It produces gastrin and it may be associated with Zollinger-Ellison syndrome.|NCI|N|
C1333768|A gastrointestinal stromal tumor that arises from the stomach. It covers a spectrum of benign to malignant soft tissue neoplasms and includes most gastric smooth muscle tumors, leiomyoblastomas, and tumors formerly called gastrointestinal autonomic nerve tumors.|NCI|N|
C1333769|A benign or malignant germ cell tumor that arises from the stomach. Representative examples include teratoma and choriocarcinoma.|NCI|N|
C1333770|A hemangioma arising from the stomach.|NCI|N|
C1333773|An extremely rare Hodgkin lymphoma that arises from the stomach.|NCI|N|
C1333774|A multinodular intermediate fibroblastic neoplasm arising from the stomach. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes and plasma cells.|NCI|N|
C1333775|A non-neoplastic polyp that arises from the stomach and is characterized by the presence of elongated, tortuous, and cystic foveolar zones, edematous changes, and inflammation. It may be associated with juvenile polyposis in other parts of the gastrointestinal tract.|NCI|N|
C1333776|A Kaposi sarcoma arising from the stomach.|NCI|N|
C1333777|A rare benign adipose tissue neoplasm of the stomach. Clinical presentation includes obstruction and gastrointestinal bleeding. Gastric lipomas occur as solitary lesions most frequently in the antrum.|NCI|N|
C1333778|A liposarcoma that arises from the stomach.|NCI|N|
C1333779|A lymphangioma arising from the stomach.|NCI|N|
C1333780|A mantle cell lymphoma that affects the stomach. It may arise as a solitary mass or it may be a component of multifocal lymphomatous polyposis of the gastrointestinal tract. It usually has an aggressive clinical course.|NCI|N|
C1333782|A low grade, indolent B-cell lymphoma, usually associated with Helicobacter pylori infection. Morphologically it is characterized by a dense mucosal atypical lymphocytic (centrocyte-like cell) infiltrate with often prominent lymphoepithelial lesions and plasmacytic differentiation. Approximately 40% of gastric MALT lymphomas carry the t(11;18)(q21;q21). Such cases are resistant to Helicobacter pylori therapy.|NCI|N|
C1333783|A rare subtype of neuroendocrine neoplasm, arising from enterochromaffin-like cells in the stomach, with a variable clinical presentation, disease course and prognosis, depending on the disease type and histological grade. Most patients are asymptomatic, with diagnosis usually occurring incidentally during gastroscopy, however, symptoms of dyspepsia, anemia, pain, weight loss and gastrointestinal bleeding can be observed. Association with Zollinger-Ellison syndrome and multiple endocrine neoplasia type I has been reported.|ORDO|N|
C1333784|An extranodal non-Hodgkin lymphoma that arises from the stomach with the bulk of the mass located in the stomach. The vast majority of cases are diffuse large B-cell lymphomas and B-cell lymphomas of the mucosa-associated lymphoid tissue.|NCI|N|
C1333785|A variant of gastric adenocarcinoma with exophytic growth and elongated finger-like processes lined by cylindrical or cuboidal cells supported by fibrovascular connective tissue cores.|NCI|N|
C1333787|A carcinoma that arises from the pylorus.|NCI|N|
C1333788|An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the stomach. It is characterized by the presence of malignant small cells.|NCI|N|
C1333789|A rare epithelial tumour of stomach, defined histopathologically as keratinizing cell masses with pearl formation, mosaic pattern of cell arrangement, intercellular bridges, and high concentrations of sulphydryl or disulphide bonds, arising directly from gastric mucosa, without esophageal involvement. It is characterized by preferential location in the upper third of the stomach, high probability of lymphovascular and serosal invasion and late onset of clinical symptoms associated with poor prognosis including nonspecific symptoms of abdominal pain, dysphagia, vomiting, melena or hematochezia, haematemesis and weight loss.|ORDO|N|
C1333790|A mature or immature teratoma that arises from the stomach.|NCI|N|
C1333791|A variant of gastric adenocarcinoma characterized by prominent dilated or slit-like tubules.|NCI|N|
C1333792|An intestinal-type adenoma that arises from the stomach. It is characterized by the presence of a tubular architectural pattern.|NCI|N|
C1333793|An intestinal-type adenoma that arises from the stomach. It is characterized by the presence of a tubulovillous architectural pattern.|NCI|N|
C1333794|An intestinal-type adenoma that arises from the stomach. It is characterized by the presence of a villous architectural pattern.|NCI|N|
C1333797|A Hodgkin lymphoma that arises from any part of the digestive system, with the bulk of the disease localized to that site.|NCI|N|
C1333798|A melanoma that arises from any part of the digestive system.|NCI|N|
C1333799|A neoplasm with neuroendocrine differentiation arising from the digestive system. It includes neuroendocrine tumors (well-differentiated neuroendocrine neoplasms) and neuroendocrine carcinomas (poorly differentiated neuroendocrine neoplasms).|NCI|N|
C1333800|A non-Hodgkin lymphoma that arises from any part of the digestive system, with the bulk of the disease localized to that site.|NCI|N|
C1333802|A stromal tumor that originates from the interstitial cells of Cajal. It may involve any part of the gastrointestinal tract. The majority of cases occur in the stomach. Morphologic variants include the epithelioid cell type, spindle cell type, and mixed cell type. Most cases contain KIT- or PDGFRA-activating mutations. Lesions with a diameter greater than 10cm and more than 5 mitotic figures per 50HPF tend to have a more aggressive clinical course. Until recently, surgery has been the only effective therapy for this tumor. However, many patients still experience recurrence. A KIT tyrosine kinase inhibitor, imatinib mesylate (also known as STI-571 or Gleevec), is now effective in the treatment of relapsed and unresectable cases.|NCI|N|
C1333803|Symptoms, physical examination results, and/or laboratory test results related to the digestive system.|NCI|N|
C1333810|Infection of the genitalia by human papillomavirus.|NCI|N|
C1333811|Patient complaints (symptoms), physical or laboratory findings (signs) related to the genitourinary system.|NCI|N|
C1333813|A malignant germ cell tumor arising from the central nervous system. It is composed of uniform cells resembling primitive germ cells. These cells have large, vesicular nuclei, prominent nucleoli and a clear, glycogen-rich cytoplasm. Additional features are lymphoid or lymphoplasmacytic infiltrates and, less frequently, scattered syncytiotrophoblastic giant cells. (Adapted from WHO)|NCI|N|
C1333816|A benign, elongated intraluminal polypoid neoplasm of the esophagus. It is characterized by the presence of adipose tissue lobules separated by dense fibrous tissue bands and dilated blood vessels. The polyp is covered by normal squamous epithelium.|NCI|N|
C1333817|A cavernous hemangioma characterized by the presence of hylanized vascular channels and is often associated with the presence of calcifications, fibrosis, and hemorrhage.|NCI|N|
C1333818|A benign neoplasm arising from the fibrous soft tissues of the gingiva. It is characterized by the presence of spindle-shaped fibroblasts and numerous dilated vascular channels.|NCI|N|
C1333821|A variant of malignant peripheral nerve sheath tumor characterized by the presence of glandular epithelium.|NCI|N|
C1333824|A benign multifocal proliferation of glomus cells forming clusters around dilated vascular spaces.|NCI|N|
C1333826|A glomus tumor that shows atypical characteristics and has borderline malignant potential.|NCI|N|
C1333829|A clear cell renal cell carcinoma characterized by absent or inconspicuous and basophilic nucleoli at x 400 magnification. (WHO 1982 /ISUP 2014)|NCI|N|
C1333830|A cutaneous lymphoma which contains up to 5 centroblasts per 40X high-power microscopic field.|NCI|N|
C1333832|A well differentiated invasive breast carcinoma.|NCI|N|
C1333835|A clear cell renal cell carcinoma characterized by nucleoli conspicuous and eosinophilic at x 400 magnification, and visible but not prominent at x 100 magnification. (WHO 1982 /ISUP 2014)|NCI|N|
C1333836|A cutaneous lymphoma which contains 6-15 centroblasts per 40X high-power microscopic field.|NCI|N|
C1333838|A moderately differentiated invasive breast carcinoma.|NCI|N|
C1333841|A clear cell renal cell carcinoma characterized by nucleoli conspicuous and eosinophilic at x 100 magnification. (WHO 1982 /ISUP 2014)|NCI|N|
C1333842|A cutaneous lymphoma which contains more than 15 centroblasts per 40X high-power microscopic field.|NCI|N|
C1333843|A poorly differentiated invasive breast carcinoma.|NCI|N|
C1333852|A clear cell renal cell carcinoma characterized by extreme nuclear pleomorphism and/or sarcomatoid and/or rhabdoid differentiation and/or tumor giant cells. (WHO, 1982 /ISUP 2014)|NCI|N|
C1333855|A colon adenocarcinoma characterized by the presence of a malignant cellular infiltrate with less than 50% glandular formation.|NCI|N|
C1333856|A colorectal adenocarcinoma characterized by the presence of a malignant cellular infiltrate with less than 50% glandular formation.|NCI|N|
C1333858|A rectal adenocarcinoma characterized by the presence of a malignant cellular infiltrate with less than 50% glandular formation.|NCI|N|
C1333859|A colon adenocarcinoma characterized by the presence of a malignant cellular infiltrate with 50-95% glandular formation.|NCI|N|
C1333860|A colorectal adenocarcinoma characterized by the presence of a malignant cellular infiltrate with 50-95% glandular formation.|NCI|N|
C1333863|Penile intraepithelial neoplasia characterized by the proliferation of transformed basaloid cells that occupy the lower two thirds of the epithelial thickness.|NCI|N|
C1333864|High grade prostatic intraepithelial neoplasia characterized by the presence of moderate architectural and cytologic abnormalities.|NCI|N|
C1333865|A rectal adenocarcinoma characterized by the presence of a malignant cellular infiltrate with 50-95% glandular formation.|NCI|N|
C1333866|A colon adenocarcinoma characterized by the presence of a malignant cellular infiltrate with more than 95% glandular formation.|NCI|N|
C1333867|A colorectal adenocarcinoma characterized by the presence of a malignant cellular infiltrate with more than 95% glandular formation.|NCI|N|
C1333869|A pancreatic intraepithelial neoplasia characterized by the presence of tall columnar cells that form flat or papillary, micropapillary, and basally pseudostratified architectural patterns. Mild cytological atypia is present.|NCI|N|
C1333870|A rectal adenocarcinoma characterized by the presence of a malignant cellular infiltrate with more than 95% glandular formation.|NCI|N|
C1333871|An aggressive malignant smooth muscle neoplasm. It is characterized by the presence of malignant smooth muscle cells with granular cytoplasmic changes.|NCI|N|
C1333873|A generally benign intrasellar and/or suprasellar mass arising from the neurohypophysis or infundibulum. It is composed of nests of large cells with granular, eosinophilic cytoplasm due to abundant intracytoplasmic lysosomes. It generally has a slow progression and lacks invasive growth. (Adapted from WHO)|NCI|N|
C1333876|Chronic inflammation of the endometrium characterized by the presence of epithelioid granulomas. Causes include tuberculosis, fungal infections, parasitic infections, and sarcoidosis.|NCI|N|
C1333878|A group of lymphomas displaying molecular, morphologic, immunophenotypic, and clinical overlap between classic Hodgkin lymphoma and diffuse large B-cell lymphoma. This term particularly applies to mediastinal lymphomas with overlapping features of mediastinal (thymic) large B-cell lymphoma and classic Hodgkin lymphoma.|NCI|N|
C1333879|A microscopic finding indicating the presence of nuclei with ground glass appearance due to the presence of intranuclear viral particles that cause peripheral margination of the chromatin.|NCI|N|
C1333936|An adenoid cystic carcinoma arising from the minor salivary glands in the hard palate.|NCI|N|
C1333937|A benign epithelial neoplasm arising from the minor salivary glands in the hard palate. It is characterized by the presence of a monomorphic cellular infiltrate.|NCI|N|
C1333938|A mucoepidermoid carcinoma arising from the minor salivary glands in the hard palate.|NCI|N|
C1333939|A benign, slow-growing and painless neoplasm that arises from the minor salivary glands in the hard palate. It is composed of cells that demonstrate both epithelial and mesenchymal differentiation.|NCI|N|
C1333940|A high-grade, aggressive variant of squamous cell carcinoma that arises from the head and neck region. The most common sites of origin are pyriform sinus, epiglottis, and base of tongue. It is characterized by the presence of small malignant cells with hyperchromatic nuclei and scant amount of cytoplasm forming lobules with peripheral palisading. Comedonecrosis may be present.|NCI|N|
C1333941|A non-neoplastic or neoplastic disorder that affects the anatomic structures of the head and neck region. This category includes inflammatory disorders, benign neoplasms, precancerous conditions, and malignant neoplasms.|NCI|N|
C1333944|A paraganglioma arising from paraganglia in the head and neck. Representative examples include the carotid body and jugulotympanic paragangliomas.|NCI|N|
C1333945|A premalignant pathologic process that affects the anatomic structures of the head and neck. Representative examples include oral leukoplakia and leukoplakia of the vocal cords.|NCI|N|
C1333946|A rare extramedullary myeloid tumor that arises from the heart. It may present in association with or as a site of relapse of acute myeloid leukemia. Rare cases of myeloid sarcoma of the heart preceding acute myeloid leukemia have also been reported.|NCI|N|
C1333947|A rare non-amyloid monoclonal immunoglobulin deposition disease characterized by production of monoclonal immunoglobulins with truncated heavy chains and no detectable light chains, which are deposited in tissues and cause organ dysfunction, but do not form amyloid beta-pleated sheets or contain an amyloid P component. The condition frequently occurs in association with multiple myeloma. Patients most commonly present with renal involvement (manifesting as hypertension, progressive renal dysfunction, anemia, and nephrotic syndrome with microhematuria), but other organs (such as the liver or skin) may also be affected. Production of IgG1 or IgG3 isotypes results in hypercomplementemia.|ORDO|N|
C1333950|A carcinoma that is caused by Helicobacter pylori.|NCI|N|
C1333951|An adenocarcinoma that arises from the gastric mucosa and is caused by persistent infection with Helicobacter pylori.|NCI|N|
C1333952|A low grade, indolent B-cell lymphoma that is associated with Helicobacter pylori infection.|NCI|N|
C1333954|Non-Hodgkin lymphoma that is caused by Helicobacter Pylori.|NCI|N|
C1333955|A rare, slow-growing, WHO grade I tumor of uncertain histogenesis that arises from the central nervous system. It is composed of stromal cells and abundant capillaries. It can occur sporadically or as part of von Hippel- Lindau syndrome.|NCI|N|
C1333956|A hemangioma arising from the peripheral nerves.|NCI|N|
C1333957|A hemangioma arising from the brain and spinal cord.|NCI|N|
C1333962|An angiomyolipoma arising from the liver.|NCI|N|
C1333963|An extremely rare, well differentiated neuroendocrine neoplasm arising from the liver. The neoplastic cells express immunohistochemical evidence of neuroendocrine differentiation.|NCI|N|
C1333964|A premalignant neoplastic nodular lesion of the liver that usually measures less than 15 mm. It is found during microscopic examination of liver tissues, usually in cirrhotic livers. Based on the degree of atypia, it is classified as low or high grade.|NCI|N|
C1333965|A solitary fibrous tumor that arises from the liver. It affects females more frequently than males. Signs and symptoms include the presence of an abdominal mass and abdominal discomfort.|NCI|N|
C1333966|A usually aggressive malignant neoplasm arising from the liver. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern.|NCI|N|
C1333967|A rare benign tumour-like lesion. Approximately 140 cases have been reported worldwide, with a higher prevalence for male adults of Asian origin and subjects affected by systemic diseases such as rheumatoid arthritis. There are two clinical presentations. The active form most commonly manifests with abdominal pain, fever and loss of body weight. The second form is usually clinically silent. The aetiopathogenesis remains unclear.|SNOMEDCT_US|N|
C1333968|A benign smooth muscle neoplasm that arises in the liver.|HPO|N|
C1333969|An aggressive malignant smooth muscle neoplasm, arising from the liver. It is characterized by a proliferation of neoplastic spindle cells.|NCI|N|
C1333970|A rare benign adipose tissue neoplasm of the liver.|NCI|N|
C1333971|A rare benign liver tumour of childhood that usually presents before the age of 2. The tumour is of mesenchymal origin and has a variable clinical presentation.|SNOMEDCT_US|N|
C1333972|A rare mucosa-associated lymphoid tissue lymphoma that arises from the liver. It is characterized by the presence of centrocyte-like cells surrounding germinal centers. Lymphoepithelial lesions involving the bile duct epithelium may also be present.|NCI|N|
C1333973|A rare non-Hodgkin lymphoma that arises from the liver and the bulk of the tumor is located in the liver. The most frequent types of non-Hodgkin lymphoma that arise from the liver are diffuse large B-cell lymphoma and mucosa-associated lymphoid tissue lymphoma.|NCI|N|
C1333974|An osteosarcoma arising from the liver.|NCI|N|
C1333975|A malignant mesenchymal tumor with skeletal muscle differentiation affecting the liver.|NCI|N|
C1333976|A benign or malignant neoplasm that affects the liver parenchyma or intrahepatic bile ducts. Representative examples of benign neoplasms include hepatocellular adenoma, and bile duct adenoma. Representative examples of malignant neoplasms include hepatocellular carcinoma, intrahepatic cholangiocarcinoma, and lymphoma.|NCI|N|
C1333977|A hepatocellular carcinoma that develops following hepatitis B virus exposure and injury of the liver parenchyma.|NCI|N|
C1333978|A hepatocellular carcinoma that develops following hepatitis C virus exposure and injury of the liver parenchyma.|NCI|N|
C1333979|A hepatocellular carcinoma that develops following hepatitis virus exposure and injury of the liver parenchyma.|NCI|N|
C1333981|A hepatoblastoma composed of cells resembling fetal epithelial cells and small round cells resembling blastema cells.|NCI|N|
C1333982|A hepatoblastoma composed of small cells resembling the fetal hepatocytes, forming thin trabeculae.|NCI|N|
C1333984|A rare T-cell non-Hodgkin lymphoma characterized by a proliferation of cytotoxic T-cells, usually gamma delta T-cells, with involvement of the liver and spleen, but without involvement of lymph nodes. The bone marrow is consistently affected. Patients typically present during adolescence or young adulthood with hepatosplenomegaly, pancytopenia, and systemic symptoms. Peripheral blood involvement may develop later in the disease course. There is a clear male preponderance. The disease often occurs in the context of long-term immunosuppression. The course is aggressive with poor therapy response.|ORDO|N|
C1333985|A hereditary renal cancer syndrome defined as development of hereditary clear cell renal cell carcinoma (ccRCC) in two or more family members without evidence of constitutional chromosome 3 translocation, von Hippel-Lindau disease or other neoplasm predisposing syndromes associated with ccRCC, such as tuberous sclerosis or Birt-Hogg-Dubbe syndrome.|SNOMEDCT_US|N|
C1333986|Breast carcinoma that has developed in female relatives of patients with history of breast carcinoma.|NCI|N|
C1333987|A familial glomus tumor.|NCI|N|
C1333988|Breast carcinoma that has developed in male relatives of patients with history of breast carcinoma.|NCI|N|
C1333989|A meningioma that is transmitted from the parents to an offspring.|NCI|N|
C1333990|Lynch syndrome, often called hereditary nonpolyposis colorectal cancer (HNPCC), is an inherited disorder that increases the risk of many types of cancer, particularly cancers of the colon (large intestine) and rectum, which are collectively referred to as colorectal cancer. People with Lynch syndrome also have an increased risk of cancers of the stomach, small intestine, liver, gallbladder ducts, urinary tract, brain, and skin. Additionally, women with this disorder have a high risk of cancer of the ovaries and lining of the uterus (endometrial cancer). Women with Lynch syndrome have a higher overall risk of developing cancer than men with the condition because of these cancers of the female reproductive system. In individuals with Lynch syndrome who develop cancer, the cancer typically occurs in their forties or fifties.\n\nPeople with Lynch syndrome may occasionally have noncancerous (benign) growths in the colon, called colon polyps. In individuals with this disorder, colon polyps occur at a younger age but not in greater numbers than they do in the general population.|MedlinePlus Genetics|N|
C1333991|Lynch syndrome is characterized by an increased risk for colorectal cancer (CRC) and cancers of the endometrium, ovary, stomach, small bowel, urinary tract, biliary tract, brain (usually glioblastoma), skin (sebaceous adenomas, sebaceous carcinomas, and keratoacanthomas), pancreas, and prostate. Cancer risks and age of onset vary depending on the associated gene. Several other cancer types have been reported to occur in individuals with Lynch syndrome (e.g., breast, sarcomas, adrenocortical carcinoma). However, the data are not sufficient to demonstrate that the risk of developing these cancers is increased in individuals with Lynch syndrome.|GeneReviews|N|
C1333992|Ovarian carcinoma that has developed in relatives of patients that have a history of ovarian carcinoma.|NCI|N|
C1333993|A hereditary neoplasm arising from paraganglia. The majority of cases (up to 80%) are multifocal. It is caused by mutations in SDHA, SDHB, SDHC, SDHD, and SDHAF2 genes.|NCI|N|
C1333995|The protrusion of an organ, or the fascia of an organ, through the wall of the cavity that normally contains it, which results in obstruction, without mention of necrosis of the herniated contents.|NCI|N|
C1333996|Gastritis resulting from herpes virus.|NCI|N|
C1334002|Breast ductal carcinoma in situ characterized by the presence of neoplastic cells with severe dysplasia and the formation of micropapillary, cribriform, or solid patterns. The nuclei show marked pleomorphism and have prominent nucleoli. Mitotic activity is usually present. There is comedo-type of necrosis present in the ducts. The necrotic debris is surrounded by pleomorphic malignant cells.|NCI|N|
C1334003|A finding indicating the presence of Barrett esophagus in which there is marked nuclear pleomorphism and loss of polarity, increased number of atypical mitotic figures, and crypt budding, branching, and crowding.|NCI|N|
C1334004|A gastric intraepithelial lesion characterized by the presence of neoplastic cells that are cuboidal with a high nucleus to cytoplasmic ratio, prominent nucleoli, significant architectural changes, and increased number of mitotic figures.|NCI|N|
C1334005|A malignant peripheral nerve sheath tumor that is high grade.|NCI|N|
C1334006|An aggressive mucoepidermoid carcinoma characterized by the presence of focal necrosis and high mitotic activity. Lymph node and distant metastases are common. The prognosis is usually poor.|NCI|N|
C1334008|A sarcoma with the morphologic features of a high grade tumor and lack of differentiation.|NCI|N|
C1334009|Intraepithelial neoplasia involving the anal canal. The epithelial cells exhibit moderate dysplasia (grade II intraepithelial neoplasia) or severe dysplasia (grade III intraepithelial neoplasia or carcinoma in situ).|NCI|N|
C1334010|Cervical glandular intraepithelial neoplasia characterized by the presence of severe dysplastic changes.|NCI|N|
C1334011|Squamous or glandular cervical intraepithelial neoplasia characterized by the presence of moderate or severe dysplastic changes.|NCI|N|
C1334012|A precancerous neoplastic intraepithelial process with high-grade dysplastic features involving the conjunctival epithelium.|NCI|N|
C1334013|A precancerous neoplastic intraepithelial process with high-grade dysplastic features involving the corneal epithelium.|NCI|N|
C1334014|This lesion shows moderate or marked architectural distortion with glandular crowding and prominent cellular atypia. It includes moderate dysplasia and severe dysplasia. (WHO, 2000)|NCI|N|
C1334015|A precancerous neoplastic process that affects the squamous, glandular, or transitional cell epithelium without evidence of invasion. According to the degree of nuclear atypia, number of mitotic figures, and presence of architectural distortion, it is classified as grade II (moderate dysplasia) or grade III (severe dysplasia).|NCI|N|
C1334018|An aggressive malignant soft tissue neoplasm that arises from the paranasal sinus. It is characterized by the presence of high-grade histologic features.|NCI|N|
C1334019|Penile intraepithelial neoplasia characterized by the proliferation of transformed basaloid cells that occupy either the lower two thirds of the epithelial thickness (grade II) or the entire thickness of the epithelium (grade III, Bowen atypia, or squamous cell carcinoma in situ).|NCI|N|
C1334029|A neuroendocrine tumor grade 1 that arises from the sigmoid colon, descending colon, or rectum.|NCI|N|
C1334030|Rare tumors that affect the hematopoietic and lymphoid tissues. The cells of origin are the histiocytes and accessory cells. They can occur at any age and show no significant variations in geographical distribution. This category includes the histiocytic sarcoma, Langerhans cell histiocytosis, Langerhans cell sarcoma, interdigitading dendritic cell sarcoma/tumor, follicular dendritic cell sarcoma/tumor, and dendritic cell sarcoma, not otherwise specified. (WHO, 2001)|NCI|N|
C1334035|A rare morphologic variant of adult T-cell leukemia/lymphoma characterized by the presence of Hodgkin-like and Reed-Sternberg-like cells.|NCI|N|
C1334036|A lymphoproliferative disorder with morphologic features resembling Hodgkin lymphoma that develops in a patient following transplantation.|NCI|N|
C1334048|An adenocarcinoma associated with the presence of human papillomavirus infection.|NCI|N|
C1334049|An anal squamous cell carcinoma related to infection with sexually transmittable human papillomavirus.|NCI|N|
C1334050|A carcinoma associated with the presence of human papillomavirus infection.|NCI|N|
C1334051|A carcinoma that arises from the cervix and is caused by human papillomavirus infection.|NCI|N|
C1334052|A cervical squamous cell carcinoma associated with human papillomavirus infection.|NCI|N|
C1334053|A cervical adenocarcinoma associated with the presence of human papillomavirus infection.|NCI|N|
C1334054|An esophageal squamous cell carcinoma that arises from squamous epithelial cells infected with human papillomavirus.|NCI|N|
C1334055|A malignant neoplasm associated with the presence of human papillomavirus infection.|NCI|N|
C1334056|A squamous cell carcinoma that arises from the penis and is caused by human papillomavirus infection.|NCI|N|
C1334057|A squamous cell carcinoma associated with the presence of human papillomavirus infection.|NCI|N|
C1334058|A verrucous carcinoma that is associated with human papillomavirus infection.|NCI|N|
C1334059|A squamous cell carcinoma that arises from the vulva and is caused by human papillomavirus infection.|NCI|N|
C1334061|A serious disorder affecting newborns, particularly premature infants. It is caused by deficiency of surfactant, resulting in the formation of a membrane in the alveoli lining. This membrane contains fibrin and cellular debris and interferes with respiration. Infants with this disorder develop breathing problems immediately or in a few hours after delivery. It may lead to respiratory failure.|NCI|N|
C1334062|Replacement of tissue stromal elements by hyaline material.|NCI|N|
C1334067|Sarcoidosis with a complication of hypercalcemia.|MONDO|N|
C1334068|An abnormal finding in a bone marrow aspirate or biopsy specimen indicating increased cellularity. It can result from hyperplasia of one or more hematopoietic cell lines or malignant neoplasms that affect the bone marrow.|NCI|N|
C1334149|A Kaposi sarcoma that develops after organ transplantation or immunosuppressive treatment.|NCI|N|
C1334151|An immature teratoma that arises from the stomach.|NCI|N|
C1334152|The presence of an increased number of granulocytic leukocytes, indicating an early-stage response to infection, inflammation, or neoplastic process.|NCI|N|
C1334153|A granulocytic sarcoma composed of myeloblasts and promyelocytes (WHO 2001).|NCI|N|
C1334154|An immature teratoma that arises from the testis.|NCI|N|
C1334156|A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions. It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation).|NCI|N|
C1334157|An immunoblastic lymphoma that arises in a patient with a history of organ transplantation.|NCI|N|
C1334158|Burkitt lymphoma in a patient with immunodeficiency.|NCI|N|
C1334159|A non-neoplastic or neoplastic disorder that develops in a patient with immunodeficiency. Representative examples include AIDS-related disorders and disorders that develop following organ transplantation.|NCI|N|
C1334160|Malignant neoplasm occurring in immunodeficient patients.|NCI|N|
C1334170|A non-Hodgkin lymphoma with an indolent clinical course.|NCI|N|
C1334171|A dysfunction in the production of blood cells, resulting in decreased numbers of mature, functioning blood cells of all lines in circulation.|NCI|N|
C1334174|An early post-transplant lymphoproliferative lesion characterized by immunoblastic proliferation and paracortical expansion as seen in infectious mononucleosis. There is architectural preservation of the involved tissues. Oligoclonal or monoclonal cellular populations have been detected in a small number of cases. In some cases, a polymorphic or monomorphic post-transplant lymphoproliferative disorder may follow this early lesion.|NCI|N|
C1334176|An aggressive malignant smooth muscle neoplasm, arising from the inferior vena cava. It is characterized by a proliferation of neoplastic spindle cells.|NCI|N|
C1334177|A carcinoma that arises from the cervix and invades into the stromal tissue.|NCI|N|
C1334179|A morphologic variant of leiomyosarcoma characterized by the presence of an inflammatory infiltrate admixed with malignant spindle cells.|NCI|N|
C1334180|An undifferentiated pleomorphic sarcoma characterized by the presence of numerous inflammatory cells.|NCI|N|
C1334183|A multinodular intermediate fibroblastic neoplasm affecting the central nervous system. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes and plasma cells.|NCI|N|
C1334184|A glioblastoma that occurs in the infratentorial region.|NCI|N|
C1334187|Acute compression of the thoracic cavity, causing increased intrathoracic pressure and the backflow of blood from the right atrium and superior vena cava into the brachiocephalic and jugular veins, with resulting stagnation of blood flow and subsequent localized blood-oxygen desaturation in the head and neck.|NCI|N|
C1334192|Patient complaints (symptoms), physical and/or laboratory findings related to the skin or integument.|NCI|N|
C1334206|Breast ductal carcinoma in situ characterized by the presence of monomorphic neoplastic cells that form cribriform, micropapillary, or solid patterns. Intraluminal necrosis is present in some ducts. Ducts that contain neoplastic cells with occasional nucleoli and coarse chromatin may also be present.|NCI|N|
C1334207|A borderline blood vessel neoplasm that can be locally aggressive, and may metastasize on rare occasions.|NCI|N|
C1334208|Choroid melanoma characterized by the presence of intermediate cells which are similar to but smaller than epithelioid cells.|NCI|N|
C1334209|Ciliary body melanoma characterized by the presence of intermediate cells which are similar to but smaller than epithelioid cells.|NCI|N|
C1334210|Iris melanoma characterized by the presence of intermediate cells which are similar to but smaller than epithelioid cells.|NCI|N|
C1334211|A borderline fibrohistiocytic neoplasm arising from the dermis and extending to the subcutaneous tissues.|NCI|N|
C1334212|A locally aggressive or rarely metastasizing neoplasm that arises from the soft tissues. It is characterized by the presence of neoplastic spindle-shaped fibroblasts.|NCI|N|
C1334213|A fibrohistiocytic neoplasm usually affecting younger patients. It is characterized by an increased risk of local recurrence and a low risk of metastasis.|NCI|N|
C1334217|A lipomatous neoplasm characterized by a high risk of local recurrence and no risk of metastasis.|NCI|N|
C1334218|A morphologic variant of fetal rhabdomyoma characterized by the presence of spindle cell myoblasts and strap-like skeletal muscle cells.|NCI|N|
C1334224|A soft tissue neoplasm characterized by an increased risk of local recurrence and/or a low risk of metastasis.|NCI|N|
C1334225|A vascular neoplasm with borderline malignant potential.|NCI|N|
C1334226|A rare benign adipose tissue neoplasm of the internal auditory canal, often presenting as an acoustic tumor. It may be intermixed with the vestibulocochlear nerve and may adhere to adjacent structures.|NCI|N|
C1334227|A meningioma that affects the internal auditory canal.|NCI|N|
C1334229|A precancerous neoplastic process that affects the small or large intestine. It is characterized by low or high grade dysplasia of the mucosal epithelium. There is no evidence of invasion.|NCI|N|
C1334230|A finding indicating the replacement of part of the esophageal mucosal epithelium by intestinal-type epithelium.|NCI|N|
C1334231|A neoplasm with neuroendocrine differentiation that arises from the small or large intestine. It includes neuroendocrine tumors (well-differentiated neuroendocrine neoplasms) and neuroendocrine carcinomas (poorly differentiated neuroendocrine neoplasms).|NCI|N|
C1334232|A usually indolent neuroendocrine neoplasm that arises in the intestine. Patients may present with gastrointestinal hemorrhage. It is a triphasic tumor consisting of a mixture of epithelioid neuroendocrine cells, Schwann-like cells, and ganglion cell-like elements.|NCI|N|
C1334234|A lymphangioma arising from the organs of the abdominal cavity.|NCI|N|
C1334235|An extra-adrenal paraganglioma arising from the abdominal cavity.|NCI|N|
C1334236|A cystic meningioma that grows within the cerebral hemispheres.|NCI|N|
C1334237|A cavernous hemangioma arising from the brain and meninges.|NCI|N|
C1334238|An extraskeletal myxoid chondrosarcoma arising from the brain.|NCI|N|
C1334239|Colloid cysts i.e. cysts filled with gelatinous material, in the central nervous system often are found in the third ventricle. Due to their location, chronic or intermittent hydrocephalus can result. Case reports of sudden death due to acute obstructive hydrocephalus are in the literature. Colloid cysts are benign lesions that should be considered for neurosurgical resection.|NCI|N|
C1334241|A rare benign adipose tissue neoplasm located in the intracranial region. It is a congenital hamartomatous malformation derived from the embryologic meninx primitiva.|NCI|N|
C1334242|A liposarcoma arising from the brain.|NCI|N|
C1334243|A melanoma that arises from the structures within the cranium.|NCI|N|
C1334244|A myeloid sarcoma that affects the meninges or the cerebral hemispheres.|NCI|N|
C1334246|A central nervous system embryonal tumor, not otherwise specified arising from the brain.|NCI|N|
C1334247|A benign breast neoplasm characterized by the presence of multiple intraductal papillomas.|NCI|N|
C1334248|Breast ductal carcinoma in situ characterized by the presence of a cribriform architectural pattern.|NCI|N|
C1334249|Breast ductal carcinoma in situ characterized by the presence of neoplastic epithelial cells arranged in micropapillary patterns.|NCI|N|
C1334250|Breast ductal carcinoma in situ characterized by the presence of sheets of tumor cells without evidence of central necrosis or cell death.|NCI|N|
C1334252|A benign or malignant papillary neoplasm that arises anywhere in the ductal system of the breast. It is characterized by the presence of fibrovascular structures lined by epithelial proliferations. This category includes intraductal papilloma and papillary ductal carcinoma in situ.|NCI|N|
C1334255|A neoplasm that occurs within the spinal canal in the space between the spinal cord and the dura mater. Representative examples include meningioma, neurofibroma, and sarcoma. Signs and symptoms include local and radicular pain, weakness and spinal cord compression.|NCI|N|
C1334256|A hyperplasia of the intraepithelial melanocytes.|NCI|N|
C1334257|A mucinous cystic neoplasm that arises from the intrahepatic bile ducts.|NCI|N|
C1334258|An intraductal papillary neoplasm that arises from the epithelium of the intrahepatic bile ducts.|NCI|N|
C1334260|A benign tumor that is usually solitary, painless, palpable mass that is firm in consistency and slightly movable and often fluctuant. It can occur in any location, but tends to involve the muscles of the thighs, buttocks, and shoulders. On microscopic examination, there is abundant mucoid material and relative hypo cellularity and loose reticulin fibers. Vascular structures are sparse. The cells have a stellate shape with small hyper chromatic pyknotic nuclei and scanty cytoplasm. Some myxomas may show focal areas of hyper cellularity. However absence of nuclear atypia, mitotic figures or necrosis helps to rule out malignancy.|HPO|N|
C1334261|A meningioma that affects the intraorbital structures.|NCI|N|
C1334264|A meningioma that arises from the spinal meninges.|NCI|N|
C1334265|An intrathoracic sympathetic paraganglioma arising from paravertebral paraganglia. In functional tumors, the hypersecretion of catecholamines results in hypertension.|NCI|N|
C1334266|Marked thickening of the bladder urothelium with minimal or absent cytologic atypia and absence of true papillary formations. It is found most commonly on routine follow-up cystoscopy in patients with a history of papillary urothelial neoplasms. (WHO 2016)|NCI|N|
C1334267|A morphologic variant of angioleiomyoma characterized by the adherence of neoplastic smooth muscle cells to the walls of vascular channels.|NCI|N|
C1334271|A meningioma that affects the ventricles of the brain.|NCI|N|
C1334272|An invasive breast adenocarcinoma with cytological and immunophenotypic characteristics of apocrine differentiation in more than 90 percent of the malignant cells.|NCI|N|
C1334274|A carcinoma that is not confined to the epithelium, and has spread to the surrounding stroma.|NCI|N|
C1334275|An invasive adenocarcinoma of the breast with a favorable clinical outcome, characterized by the presence of a sieve-like or cribriform infiltrating pattern.|NCI|N|
C1334276|An invasive ductal breast carcinoma associated with an invasive lobular carcinomatous component.|NCI|N|
C1334277|An invasive ductal breast carcinoma associated with a lobular carcinomatous component. The lobular carcinomatous component may be in situ or invasive.|NCI|N|
C1334278|A malignant cellular population that has increased in size and infiltrates the surrounding tissues.|NCI|N|
C1334280|An invasive breast carcinoma characterized by the presence of papillary structures.|NCI|N|
C1334281|An invasive urothelial carcinoma that arises from the urinary bladder urothelium.|NCI|N|
C1334282|An endophytic urothelial neoplasm arising from the urinary tract. It shares several morphologic features with urothelial papilloma.|NCI|N|
C1334285|A malignant neoplasm arising in an anatomic site exposed to ionizing radiation.|NCI|N|
C1334287|A melanoma that arises from the iris. It is characterized by the presence of spindle-shaped melanocytes.|NCI|N|
C1334296|A well differentiated, low grade neuroendocrine neoplasm (carcinoid tumor) that arises from the jejunum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent.|NCI|N|
C1334297|A somatostatin-producing neuroendocrine tumor that arises from the jejunum.|NCI|N|
C1334298|A meningioma that affects the jugular foramen.|NCI|N|
C1334299|A neoplasm that affects the jugular foramen. Representative examples include paraganglioma, schwannoma, and meningioma.|NCI|N|
C1334300|A rare intracranial schwannoma that affects the jugular foramen.|NCI|N|
C1334303|A benign, usually solitary, well circumscribed multicystic neoplasm that arises from the breast and typically affects young females. The cysts are lined by papillary proliferations that contain epithelial and myoepithelial layers. In a minority of cases, atypia may be present.|NCI|N|
C1334305|A rare myxoma that usually arises in an area close to a large joint. Morphologically it resembles a cellular myxoma. In contrast to an intramuscular myxoma, it is not associated with mutations of the GNAS gene.|NCI|N|
C1334315|An olfactory neuroblastoma that is confined to the nasal cavity|NCI|N|
C1334316|An olfactory neuroblastoma that involves the nasal cavity and paranasal sinuses.|NCI|N|
C1334317|An olfactory neuroblastoma that extends beyond the nasal cavity and paranasal sinuses.|NCI|N|
C1334318|A Kaposi sarcoma arising from the brain, spinal cord, or meninges.|NCI|N|
C1334320|A Kaposi sarcoma with less than 15% necrosis.|NCI|N|
C1334321|A Kaposi sarcoma with more than 15% necrosis.|NCI|N|
C1334322|A squamous cell carcinoma that arises centrally from the jaw. It is characterized by a solid pattern, keratin production, infiltration of the marrow spaces, and osseous resorption.|NCI|N|
C1334323|A benign or malignant, primary or metastatic neoplasm affecting the kidney and ureter.|NCI|N|
C1334356|A carcinoma that arises from the labia majora.|NCI|N|
C1334357|A carcinoma that arises from the labia minora.|NCI|N|
C1334358|A carcinoma that arises from the lacrimal glands. Representative examples include adenocarcinoma, carcinoma ex pleomorphic adenoma, squamous cell carcinoma, adenoid cystic carcinoma, and mucoepidermoid carcinoma.|NCI|N|
C1334359|An extremely rare carcinoma that arises from the lacrimal gland. It is characterized by the presence of infiltrating nests of epidermoid cells and mucus producing cells.|NCI|N|
C1334360|A squamous cell carcinoma that involves the lacrimal gland.|MONDO|N|
C1334361|A benign or malignant neoplasm that affects the lacrimal gland or the lacrimal drainage system.|NCI|N|
C1334362|A benign, well-circumscribed squamous lesion characterized by the presence of enlarged keratinocytes with nuclei twice the normal size. (WHO 2018)|NCI|N|
C1334363|A high grade carcinoma that arises from the lung and is characterized by the presence of large neuroendocrine cells. It usually has an aggressive clinical course.|NCI|N|
C1334364|A large cell neuroendocrine carcinoma arising from the thymus.|NCI|N|
C1334368|A rare adenoid cystic carcinoma of the larynx. It usually arises from the supraglottic or subglottic area. It is characterized by slow progression and late distant metastases.|NCI|N|
C1334369|A rare, well differentiated, low grade neuroendocrine neoplasm that arises from the larynx.|NCI|N|
C1334370|A benign smooth muscle neoplasm arising from the larynx. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.|NCI|N|
C1334371|An aggressive malignant smooth muscle neoplasm, arising from the larynx. It is characterized by a proliferation of neoplastic spindle cells.|NCI|N|
C1334372|A rare malignant adipose tissue neoplasm of the larynx. It predominantly affects males. Clinical presentation includes dysphonia, dysphagia and respiratory symptoms. The supraglottis is the most common site of involvement.|NCI|N|
C1334373|A rare mucoepidermoid carcinoma of the larynx. It usually arises from the supraglottic area. Hoarseness and dysphagia are the presenting symptoms.|NCI|N|
C1334374|A rare head and neck tumor characterized by an epithelial neoplasm with evidence of neuroendocrine differentiation, typically located in the supraglottic larynx. The tumor can be well, moderately, or poorly differentiated, the latter group being subdivided into small cell or large cell neuroendocrine carcinomas. There is a strong association with tobacco use. Patients present with hoarseness, dysphagia, sore throat, airway obstruction, hemoptysis, and rarely a paraneoplastic syndrome due to aberrant hormone production. Poorly differentiated tumors are highly aggressive with high rates of regional and distant metastasis.|ORDO|N|
C1334375|An extra-adrenal parasympathetic paraganglioma arising from paraganglia adjacent to the larynx. Patients may present with hoarseness and dysphagia.|NCI|N|
C1334376|A premalignant pathologic process that affects the epithelial cells of the laryngeal mucosa.|NCI|N|
C1334377|A rare sarcoma that arises from soft tissue or hyaline cartilage of the larynx.|NCI|N|
C1334378|A small cell neuroendocrine carcinoma that arises from the larynx.|NCI|N|
C1334380|A meningioma that affects the lateral ventricle of the brain.|NCI|N|
C1334382|A benign smooth muscle neoplasm arising from the central nervous system. It is characterized by the presence of intersecting fascicles composed of spindle cells that often lack mitotic activity.|NCI|N|
C1334383|A leiomyosarcoma with less than 15% necrosis.|NCI|N|
C1334384|A leiomyosarcoma with more than 15% necrosis.|NCI|N|
C1334385|An aggressive malignant smooth muscle neoplasm, arising from the central nervous system. It is characterized by a proliferation of neoplastic spindle cells.|NCI|N|
C1334386|A melanoma that arises from leptomeningeal melanocytes.|NCI|N|
C1334402|A benign hemangiopericytoma with lipomatous differentiation.|NCI|N|
C1334405|A morphologic finding indicating the presence of a cellular infiltrate forming lobules in a tissue sample.|NCI|N|
C1334406|Ewing sarcoma that is confined to a specific area of the bone and has not spread to other anatomic sites.|NCI|N|
C1334407|A carcinoma that is confined to a specific site without evidence of spread to other anatomic sites.|NCI|N|
C1334408|A small round cell tumor with neural differentiation, confined to a specific site without evidence of spread to other anatomic sites.|NCI|N|
C1334410|A primitive neuroectodermal tumor that is confined to a specific site without evidence of spread to other anatomic sites.|NCI|N|
C1334412|Intraepithelial neoplasia involving the anal canal. The epithelial cells exhibit mild dysplasia (grade I intraepithelial neoplasia).|NCI|N|
C1334413|Breast ductal carcinoma in situ characterized by the presence of small, monomorphic neoplastic cells that form cribriform, micropapillary, or solid patterns. The nuclei are uniform and mitotic figures are rare.|NCI|N|
C1334414|A finding indicating the presence of Barrett esophagus in which the crypts are preserved or mildly distorted. There is nuclear elongation, mild pleomorphism and loss of polarity, mucin depletion, and increased number of mitotic figures.|NCI|N|
C1334415|A gastric intraepithelial lesion characterized by the presence of neoplastic cells with mild cytologic atypia, mild architectural changes, and low number of mitotic figures.|NCI|N|
C1334416|A malignant peripheral nerve sheath tumor that is low grade.|NCI|N|
C1334417|A slow growing mucoepidermoid carcinoma characterized by the presence of keratinization in the neoplastic squamous cells and lumina formation by glandular neoplastic cells. Complete excision may be curative.|NCI|N|
C1334420|Cervical glandular intraepithelial neoplasia characterized by the presence of mild dysplastic changes.|NCI|N|
C1334421|A precancerous neoplastic intraepithelial process with low-grade dysplastic features involving the conjunctival epithelium.|NCI|N|
C1334422|A precancerous neoplastic intraepithelial process with low-grade dysplastic features involving the corneal epithelium.|NCI|N|
C1334426|A malignant soft tissue neoplasm that arises from the paranasal sinus. It is characterized by the presence of low-grade histologic features.|NCI|N|
C1334427|Penile intraepithelial neoplasia characterized by the proliferation of transformed basaloid cells that occupy the lower one third of the epithelial thickness.|NCI|N|
C1334434|A meningioma that affects the lower clivus.|NCI|N|
C1334436|A meningioma that arises from the meninges of the lumbar region of the spinal cord.|NCI|N|
C1334437|A neoplasm (disease) that involves the lumbar nerve plexus.|MONDO|N|
C1334438|A benign well-circumscribed tumor, composed of lobules of mature adipocytes, that arises within the lumbosacral tissue of the spine.|NCI|N|
C1334439|A rare usually indolent lung carcinoma characterized by a cribiform and tubular pattern and the presence of glandular epithelial cells. Clinical symptoms include shortness of breath, cough, wheeze, hemopytsis and chest pain.|NCI|N|
C1334440|A carcinoma that arises from the lung and has metastasized to the bone.|NCI|N|
C1334441|A carcinoma that has spread to the brain from its original site in the lung, through the hematogenous route.|NCI|N|
C1334442|A carcinoma that originates from the lung and has spread to the liver.|NCI|N|
C1334444|The presence of a lung fibroma, a benign neoplasm that can present as a mass causing airway obstruction, cough, and hemoptysis, or present without symptoms as a solitary pulmonary nodule.|HPO|N|
C1334445|A lung carcinoma arising from the hilum of the lung.|NCI|N|
C1334447|A benign smooth muscle neoplasm arising from the lung. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.|NCI|N|
C1334448|An aggressive malignant smooth muscle neoplasm, arising from the lung. It is characterized by a proliferation of neoplastic spindle cells.|NCI|N|
C1334450|A primary or metastatic meningioma that is present in the lung. The lung is the most frequent site of metastasis of meningiomas.|NCI|N|
C1334451|A benign tumor of the lung composed of mature adipocytes and smooth muscle cells.|NCI|N|
C1334452|A neoplasm with neuroendocrine differentiation that arises from the lung. This category includes typical carcinoid tumor, atypical carcinoid tumor, small cell carcinoma, large cell neuroendocrine carcinoma, and combined carcinoma.|NCI|N|
C1334453|A rare non-Hodgkin lymphoma that arises in and is confined to the lung at the time of diagnosis. Representative examples include mucosa-associated lymphoid tissue lymphoma and diffuse large B-cell lymphoma.|NCI|N|
C1334455|A benign tumor that arises from the lung. It is characterized by the presence of sclerotic, papillary, solid, and hemorrhagic patterns and hyperplastic type II pneumocytes. Cholesterol clefts, hemosiderin deposition, chronic inflammation, and calcifications may be present. In the majority of cases, it is a solitary and peripheral tumor. Patients are usually asymptomatic.|NCI|N|
C1334457|A Kaposi sarcoma affecting the lymph nodes.|NCI|N|
C1334458|A finding indicating the presence of enlarged lymph nodes and associated polyclonal hypergammaglobulinemia.|NCI|N|
C1334461|A rare carcinoma that arises from the salivary glands, most often the parotid gland. It is characterized by the presence of an undifferentiated carcinomatous component associated with a prominent reactive lymphoplasmacytic infiltrate.|NCI|N|
C1334463|A histologic variant of anaplastic large cell lymphoma characterized by the presence of a large number of histiocytes admixed with the anaplastic lymphoma cells.|NCI|N|
C1334465|A header term comprising lymphomas classified based on anatomic location.|NCI|N|
C1334466|An adult T-cell leukemia/lymphoma characterized by generalized lymphadenopathy without peripheral blood involvement. Most patients have advanced disease, however hypercalcemia is not frequently present.|NCI|N|
C1334467|A finding referring to the presence of a cellular infiltrate that is composed of lymphocytes and plasma cells in a tissue sample.|NCI|N|
C1334543|An epithelial hepatoblastoma characterized by the presence of broad trabeculae.|NCI|N|
C1334546|An adenocarcinoma with serous acinar cell differentiation that arises from the major salivary glands. The vast majority of cases occur in the parotid gland. Patients usually present with a slow growing mass in the parotid area.|NCI|N|
C1334547|An adenocarcinoma that arises from the parotid gland, submandibular gland, or sublingual gland.|NCI|N|
C1334548|An aggressive carcinoma that arises from the major salivary glands. It is characterized by the presence of malignant epithelial and myoepithelial cells forming cribriform, tubular, and solid patterns. It usually presents as a slow growing mass. Patients develop pain because of the tendency of these carcinomas to invade perineural tissues.|NCI|N|
C1334549|A carcinoma that arises from the parotid gland, submandibular gland, or sublingual gland.|NCI|N|
C1334550|A carcinoma that arises from a pleomorphic adenoma in the major salivary glands. It usually originates in the parotid gland. Patients usually present with a history of a long-standing tumor mass which grew rapidly in the past few months. Patients with non-invasive or minimally invasive carcinoma have an excellent prognosis. In cases where there is invasion of the surrounding tissues, the clinical course is aggressive.|NCI|N|
C1334551|A carcinoma that arises from the major salivary glands. It usually arises from the parotid gland. It is the most common primary carcinoma of the salivary glands and usually presents as a firm and painless mass. It is characterized by the presence of epidermoid cells, mucus producing cells, and cells of intermediate type. The majority of cases have a favorable outcome.|NCI|N|
C1334552|A non-Hodgkin lymphoma that arises from the parotid gland, submandibular gland, or sublingual gland. Representative examples include mucosa-associated lymphoid tissue lymphoma and diffuse large B-cell lymphoma.|NCI|N|
C1334553|A rare malignant soft tissue neoplasm that arises from the parotid gland, submandibular gland, or sublingual gland. Representative examples include fibrosarcoma, angiosarcoma, leiomyosarcoma, and Kaposi sarcoma.|NCI|N|
C1334554|A non-neoplastic disorder that affects the male reproductive system. Representative examples include prostatitis, balanitis, and phimosis.|NCI|N|
C1334555|A premalignant pathologic process arising from an organ of the male reproductive system. It is characterized by cellular atypia and/or dysplasia but does not show morphologic evidence of stromal invasion at the time of diagnosis. Representative examples include prostatic intraepithelial neoplasia, giant condyloma acuminatum of the penis, and penile intraepithelial neoplasia.|NCI|N|
C1334556|ACTH-producing pituitary neuroendocrine tumor that has spread from its original site of growth to another anatomic site.|NCI|N|
C1334557|A malignant brain neoplasm occurring in adults.|NCI|N|
C1334558|A solitary fibrous tumor, grade 3 that arises from the brain and occurs in adults.|NCI|N|
C1334559|A primary or metastatic malignant neoplasm that affects the anterior portion of the tongue.|NCI|N|
C1334560|A malignant neoplasm involving the aorta.|NCI|N|
C1334561|A malignant neoplasm involving the apocrine gland.|NCI|N|
C1334563|An extra-adrenal sympathetic paraganglioma of the bladder that metastasizes to other anatomic sites.|NCI|N|
C1334564|An adenomyoepithelioma of the breast in which the epithelial, myoepithelial, or both components have undergone malignant transformation. Such cases may follow an aggressive clinical course, including recurrences and local and distant metastases.|NCI|N|
C1334565|A rare tumor characterized by malignant transformation of an eccrine spiradenoma of the breast.|NCI|N|
C1334566|A rare malignant germ cell tumor that arises within the myocardium or cardiac chambers.|NCI|N|
C1334567|A malignant hemangiopericytoma arising in the heart.|NCI|N|
C1334568|A paraganglioma of the heart that metastasizes to regional or distant anatomic sites.|NCI|N|
C1334569|A very rare malignant peripheral nerve sheath tumor that arises from the heart.|NCI|N|
C1334571|A metastasizing mesenchymal, non-meningothelial neoplasm that arises from the central nervous system.|NCI|N|
C1334572|An uncommon malignant neoplasm that arises from the chest wall bones. Representative examples include chondrosarcoma, osteosarcoma, and Ewing sarcoma/peripheral primitive neuroectodermal tumor.|NCI|N|
C1334573|A primary or metastatic malignant neoplasm that affects the central nervous system and occurs during childhood.|NCI|N|
C1334574|A malignant germ cell tumor that occurs during childhood.|NCI|N|
C1334575|A malignant granular cell tumor that arises from the skin.|NCI|N|
C1334576|A malignant neoplasm that occurs in the diencephalon.|NCI|N|
C1334577|A malignant neoplasm involving the eccrine glands.|NCI|N|
C1334579|Esophageal segments used primarily in pathology, and distinct from the anatomic segments used for clinical purposes.|NCI|N|
C1334581|A malignant germ cell tumor that develops as a primary tumor in an anatomic site other than the testis or ovary.|NCI|N|
C1334582|A malignant nongerminomatous germ cell tumor that develops as a primary tumor in an anatomic site other than the testis or ovary.|NCI|N|
C1334583|A malignant mesenchymal neoplasm with cartilaginous or osseous differentiation arising from the soft tissues exclusively. Extraskeletal osteosarcoma is a representative example.|NCI|N|
C1334584|A malignant germ cell tumor that arises from the stomach. It includes choriocarcinoma and immature teratoma.|NCI|N|
C1334585|A metastasizing granular cell tumor that arises from the stomach.|NCI|N|
C1334587|Growth hormone-producing pituitary neuroendocrine tumor that has spread from its original site of growth to another anatomic site.|NCI|N|
C1334591|A malignant neoplasm involving the inferior vena cava.|NCI|N|
C1334592|A malignant germ cell tumor that affects the structures within the cranium.|NCI|N|
C1334593|A malignant neoplasm involving the intracranial space.|NCI|N|
C1334595|An intrathoracic paravertebral paraganglioma that metastasizes to other anatomic sites.|NCI|N|
C1334596|A primary or metastatic malignant tumor involving the leptomeninges.|NCI|N|
C1334597|An extragonadal malignant germ cell tumor that arises from the mediastinum. This category includes seminoma, embryonal carcinoma, yolk sac tumor, choriocarcinoma, mixed germ cell tumors, and immature malignant teratoma.|NCI|N|
C1334598|A malignant hemangiopericytoma arising in the mediastinum.|NCI|N|
C1334599|A malignant mesenchymal neoplasm that arises from the mediastinum.|NCI|N|
C1334600|A rare variant of malignant peripheral nerve sheath tumor that arises from the mediastinum. It is characterized by the presence of malignant cells that contain melanin.|NCI|N|
C1334601|A malignant soft tissue neoplasm in which the line of differentiation is uncertain.|NCI|N|
C1334602|A mixed epithelial stromal tumor of the kidney with malignant stromal features.|NCI|N|
C1334603|An aggressive malignant tumor of the female reproductive system, affecting predominantly elderly menopausal women. The endometrium and ovary are the most common sites of tumor origin. Morphologically, it is a high grade tumor, composed of carcinomatous and sarcomatous elements.|NCI|N|
C1334604|A malignant tumor arising from the parotid gland, submandibular gland, or sublingual gland. It includes carcinoma ex pleomorphic adenoma, a malignant epithelial tumor arising from a pre-existing pleomorphic adenoma and carcinosarcoma which is characterized by a mixture of malignant epithelial and sarcomatous elements.|NCI|N|
C1334605|A malignant tumor arising from the minor salivary glands. It includes carcinoma ex pleomorphic adenoma, a malignant epithelial tumor arising from a pre-existing pleomorphic adenoma and carcinosarcoma which is characterized by a mixture of malignant epithelial and sarcomatous elements.|NCI|N|
C1334606|A term that refers to the categorization of malignant neoplasm by histologic grade.|NCI|N|
C1334607|A primary or metastatic malignant non-epithelial neoplasm that affects the liver.|NCI|N|
C1334608|A thecoma of the ovary that contains lutein cells and may metastasize to other anatomic sites. It is usually characterized by nuclear atypia and mitotic activity.|NCI|N|
C1334609|Malignant sex cord stromal tumor (SCST) of ovary is a rare ovarian cancer (see this term) arising from granulosa, theca, sertoli and leydig cells or stromal fibroblasts, occurring at any age and presenting with abdominal or pelvic mass, and characterized (with the exception of fibroma) by the production of sex steroids resulting in manifestations of hormone excess, with a relatively favorable prognosis.|ORDO|N|
C1334610|A malignant tumor arising from the parotid gland. It includes carcinoma ex pleomorphic adenoma, a malignant epithelial tumor arising from a pre-existing pleomorphic adenoma and carcinosarcoma which is characterized by a mixture of malignant epithelial and sarcomatous elements.|NCI|N|
C1334611|A malignant mesenchymal neoplasm arising from the perivascular cells of the connective and soft tissues. It is characterized by the presence of pericytes that grow in a circumferential pattern around vessels, and cytologic atypia.|NCI|N|
C1334612|A malignant germ cell tumor that arises in the pineal region. Representative examples include germinoma, immature teratoma, choriocarcinoma, embryonal carcinoma and yolk sac tumor.|NCI|N|
C1334614|Prolactin-producing pituitary neuroendocrine tumor that has spread from its original site of growth to another anatomic site.|NCI|N|
C1334615|An unusual malignant tumor that arises from the prostate gland. It is characterized by the presence of glandular elements and a cellular stroma that exhibits mitotic activity and nuclear atypia.|NCI|N|
C1334616|A malignant neoplasm involving the pulmonary artery.|NCI|N|
C1334617|A malignant neoplasm involving the pulmonary vein.|NCI|N|
C1334618|A primary or metastatic malignant neoplasm that affects the male or female reproductive system. Representative examples include prostate carcinoma, penile carcinoma, testicular seminoma, testicular embryonal carcinoma, endometrial carcinoma, cervical carcinoma, ovarian carcinoma, and uterine corpus leiomyosarcoma.|NCI|N|
C1334619|A malignant neoplasm arising from skeletal muscle.|NCI|N|
C1334620|A malignant neoplasm arising from smooth muscle.|NCI|N|
C1334621|A malignant mesenchymal neoplasm that arises from the spleen.|NCI|N|
C1334622|A malignant tumor arising from the submandibular gland. It includes carcinoma ex pleomorphic adenoma, a malignant epithelial tumor arising from a pre-existing pleomorphic adenoma and carcinosarcoma which is characterized by a mixture of malignant epithelial and sarcomatous elements.|NCI|N|
C1334623|A malignant neoplasm involving the superior vena cava.|NCI|N|
C1334624|A malignant neoplasm that affects the synovium.|NCI|N|
C1334625|A classification of testicular cancers that arise in specialized sex cells called germ cells. Nonseminomas include embryonal carcinoma, teratoma, choriocarcinoma, and yolk sac tumor.|NCI|N|
C1334626|A Sertoli cell tumor that arises from the testis and is characterized by nuclear pleomorphism, increased mitotic activity and necrotic changes. Metastases may be present at diagnosis.|NCI|N|
C1334627|TSH-producing pituitary neuroendocrine tumor that has spread from its original site of growth to another anatomic site.|NCI|N|
C1334628|A primary malignant neoplasm of the uterine corpus characterized by the presence of an epithelial and a mesenchymal component. This category includes carcinosarcoma, carcinofibroma, and adenosarcoma.|NCI|N|
C1334630|A malignant neoplasm arising from the vascular tissue. It is characterized by vascular channel formation and malignant endothelial cells.|NCI|N|
C1334631|A group of non-invasive epithelial proliferations that occur in the ductal system of the breast. The vast majority of cases arise in the terminal ductal lobular units. This category includes atypical ductal hyperplasia, usual ductal hyperplasia, flat epithelial atypia, and ductal carcinoma in situ. There is an increased risk for subsequent development of invasive breast carcinoma.|NCI|N|
C1334633|A neoplasm that arises from mature B-lymphocytes or plasma cells. Representative examples include mature B-cell non-Hodgkin lymphomas, chronic lymphocytic leukemia, hairy cell leukemia, plasma cell neoplasms, and B-cell proliferations of uncertain malignant potential.|NCI|N|
C1334634|A non-Hodgkin lymphoma that originates from mature B lymphocytes. Representative examples include diffuse large B-cell lymphoma, follicular lymphoma, marginal zone lymphoma, mantle cell lymphoma, and small lymphocytic lymphoma.|NCI|N|
C1334635|A benign teratoma that arises from the stomach. It contains mature tissue elements only.|NCI|N|
C1334636|An extragonadal mature teratoma that arises from the mediastinum. It is usually encapsulated and characterized by the presence of unilocular or multilocular cysts. The cysts can contain clear fluid, mucoid material, sebaceous debris, fat, hair, cartilage, and rarely teeth or bone.|NCI|N|
C1334637|An ovarian teratoma which may be cystic, composed entirely of well differentiated, adult-type tissues, without evidence of fetal-type tissues.|NCI|N|
C1334638|A mature teratoma that arises from the pericardium.|NCI|N|
C1334640|A group of neoplasms composed of T-lymphocytes with a mature (peripheral/post-thymic) immunophenotypic profile and/or NK-cells.|NCI|N|
C1334641|A teratoma that arises from the testis and is composed of well differentiated, adult-type tissues.|NCI|N|
C1334642|An adenocarcinoma that arises from the maxillary sinus.|NCI|N|
C1334643|An adenoid cystic carcinoma that arises from the maxillary sinus. It usually has an aggressive clinical course.|NCI|N|
C1334644|A rare, progressive, non-neoplastic pathologic process that arises from the maxillary sinus mucosal epithelium. It is characterized by the proliferation of keratinizing squamous epithelium and the formation of keratin sheets. It may lead to bone erosion and infections. Surgical removal is the appropriate treatment.|NCI|N|
C1334645|A benign neoplasm that arises from the ciliated respiratory mucosa that lines the maxillary sinus. It results from the invagination and proliferation of epithelial cells in the underlying stroma.|NCI|N|
C1334646|A papilloma that arises from the ciliated respiratory mucosa that lines the maxillary sinus.|NCI|N|
C1334647|A squamous cell carcinoma that arises from the mucosal epithelial surface of the maxillary sinus. Patients may present with nasal fullness, obstruction, and/or epistaxis.|NCI|N|
C1334648|A well differentiated, low grade neuroendocrine neoplasm (carcinoid tumor) that arises in a Meckel diverticulum.|NCI|N|
C1334649|A malignant vascular neoplasm arising from the mediastinum.|NCI|N|
C1334650|A benign neoplasm composed of hyaline cartilage arising from the mediastinum. It is characterized by the presence of chondrocytes, a lobulated growth pattern, and calcification.|NCI|N|
C1334651|An extragonadal malignant germ cell tumor that arises from the mediastinum and is composed of syncytiotrophoblasts, cytotrophoblasts, and intermediate trophoblasts. The prognosis is usually poor.|NCI|N|
C1334652|An extragonadal malignant germ cell tumor that arises from the mediastinum and is composed of primitive large cells with clear or granular cytoplasm forming solid, glandular, or papillary patterns. It usually affects young males. It manifests with respiratory distress, thoracic or shoulder pain, fever, cough, superior vena cava syndrome, or hoarseness.|NCI|N|
C1334653|A ganglioneuroblastoma arising from the mediastinum.|NCI|N|
C1334654|A ganglioneuroma arising from the mediastinum.|NCI|N|
C1334655|A germ cell tumor that arises from the mediastinum. Representative examples include seminoma, embryonal carcinoma, yolk sac tumor, teratoma, and mixed germ cell tumor.|NCI|N|
C1334656|An exceptionally rare, generally benign, granular cell tumor that arises from the mediastinum. All the reported cases were located in the posterior mediastinum.|NCI|N|
C1334657|A mediastinal lymphoma with molecular, morphologic, immunophenotypic, and clinical features of both mediastinal (thymic) large B-cell lymphoma and classic Hodgkin lymphoma. The identification of this group of lymphomas, along with recent gene expression profiling results (PDL2 gene expression in both mediastinal (thymic) large B-cell lymphoma tissues and Hodgkin lymphoma cell lines), further supports the hypothesis that mediastinal (thymic) large B-cell lymphomas and classic Hodgkin lymphomas are related entities.|NCI|N|
C1334658|A Hodgkin lymphoma that arises from the mediastinum. It usually involves mediastinal lymph nodes and/or the thymus. Signs and symptoms include fever, weight loss, fatigue, and night sweats.|NCI|N|
C1334659|A benign smooth muscle neoplasm arising from the mediastium. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.|NCI|N|
C1334660|An aggressive malignant smooth muscle neoplasm, arising from the mediastinum. It is characterized by a proliferation of neoplastic spindle cells.|NCI|N|
C1334661|A benign adipose tissue neoplasm of the anterior, middle or posterior mediastinum.|NCI|N|
C1334662|A neoplastic process characterized by a diffuse poorly circumscribed overgrowth of adipose tissue in the mediastinum.|NCI|N|
C1334663|A liposarcoma that arises from the mediastinum.|NCI|N|
C1334664|A lymphangioma arising from the mediastinum.|NCI|N|
C1334665|A lymphoma that arises from the mediastinum. Representative examples include mediastinal (thymic) large B-cell lymphoma and Hodgkin lymphoma.|NCI|N|
C1334666|An extragonadal nongerminomatous malignant germ cell tumor that arises from the mediastinum. This category includes embryonal carcinoma, yolk sac tumor, choriocarcinoma, and mixed germ cell tumors.|NCI|N|
C1334667|A malignant peripheral nerve sheath tumor that arises from the mediastinum. It may be associated with neurofibromatosis. It often spreads to the lungs or pleura.|NCI|N|
C1334668|A melanotic schwannoma that affects the mediastinum.|NCI|N|
C1334669|A benign or malignant mesenchymal neoplasm of the mediastinum. Representative examples of benign mediastinal soft tissue neoplasms include chondroma, leiomyoma, lipoma, and rhabdomyoma. Representative examples of malignant mediastinal soft tissue neoplasms include angiosarcoma, leiomyosarcoma, liposarcoma, osteosarcoma, rhabdomyosarcoma, and synovial sarcoma.|NCI|N|
C1334670|An extragonadal non-seminomatous malignant germ cell tumor that arises from the mediastinum and contains teratoma and embryonal carcinoma components.|NCI|N|
C1334671|An extragonadal nongerminomatous malignant germ cell tumor that arises from the mediastinum and is composed of two or more germ cell tumor types. It manifests with respiratory distress, thoracic pain, cough, superior vena cava syndrome, or hoarseness.|NCI|N|
C1334672|A neurogenic tumor that arises from the mediastinum. Neural tumors are the most common tumors that arise from the posterior mediastinum. Representative examples include Schwannoma, neurofibroma, and neuroblastoma.|NCI|N|
C1334673|A neuroblastoma arising from the mediastinum.|NCI|N|
C1334674|A neurofibroma that arises from the posterior mediastinum. Excision is usually curative.|NCI|N|
C1334675|An osteosarcoma arising from the mediastinum.|NCI|N|
C1334676|A rare benign skeletal muscle neoplasm arising from the mediastinum.|NCI|N|
C1334677|A malignant mesenchymal tumor with skeletal muscle differentiation affecting the mediastinum.|NCI|N|
C1334678|A rare sarcoma that arises from the mediastinum. Examples include liposarcoma, leiomyosarcoma, and angiosarcoma.|NCI|N|
C1334679|A schwannoma that arises from the posterior mediastinum. It is the most common neurogenic tumor of the mediastinum. Excision is usually curative.|NCI|N|
C1334680|An extragonadal malignant germ cell tumor that arises from the mediastinum. It is characterized by the presence of uniform cells with clear or eosinophilic cytoplasm, round nucleus with one or more nucleoli, and distinct cellular borders. It usually arises from the anterior mediastinum. It may present with respiratory distress, chest pain, or superior vena cava syndrome or it may be asymptomatic, with the tumor detected on routine chest x-ray. The prognosis of mediastinal pure seminomas is favorable compared to the mediastinal non-seminomatous malignant germ cell tumors.|NCI|N|
C1334681|A synovial sarcoma arising from the mediastinum.|NCI|N|
C1334682|A teratoma located within the mediastinum (the cavity between the pleural sacs that contains the heart and all of the thoracic viscera except the lungs).|HPO|N|
C1334683|An extragonadal non-seminomatous malignant germ cell tumor that arises from the mediastinum. It is characterized by the presence of small pale cells with small amount of cytoplasm and round to oval nuclei with small nucleoli forming a variety of patterns, including microcystic, macrocystic, pseudopapillary, myxomatous, hepatoid, polyvesicular vitelline, and solid. It manifests with respiratory distress, thoracic pain, fever, and superior vena cava syndrome.|NCI|N|
C1334685|A medulloblastoma which has spread from its original site to the leptomeninges surrounding the brain and spinal cord.|NCI|N|
C1334687|A neoplasm affecting cells of the megakaryocytic lineage.|NCI|N|
C1334688|A laboratory test result indicating an abnormally high quantity of abnormal immature red blood cells with megaloblastic features.|NCI|N|
C1334691|A condition characterized by multiple melanomas.|NCI|N|
C1334698|A neoplasm that arises from meningothelial cells. This category refers to meningiomas.|NCI|N|
C1334699|A benign, intermediate, or malignant neoplasm that arises from the mesenchyma-derived cells of the soft tissue or bone. Representative examples include lipoma, leiomyoma, leiomyosarcoma and osteosarcoma.|NCI|N|
C1334702|A hyperplasia of the mesonephric cells.|NCI|N|
C1334703|A malignant tumor that arises at a site separate from another, primary malignant tumor in the same anatomic system. It is not clear if metachronous malignant neoplasms represent new primary tumors or metastatic disease. Examples include metachronous osteosarcoma of the bones that develops in patients with known primary bone osteosarcoma, and metachronous Wilms'' tumor that affects the opposite kidney in patients with a history of Wilms'' tumor.|NCI|N|
C1334704|A bone osteosarcoma that has metastasized to skeletal or extraskeletal sites.|NCI|N|
C1334705|Wilms tumor arising in the remaining kidney following treatment of the original Wilms tumor.|NCI|N|
C1334708|Metaplastic carcinoma of the breast is a rare, aggressive subtype of invasive breast carcinoma characterized by rapid growth, relatively large tumor size and a tendency to metastasize to distant organs, particularly the lungs, with relatively less frequent involvement of the axillary lymph nodes. Histologically, the tumor shows high-grade cellularity and heterologous differentiation, including chondroid, osseous, pleomorphic/sarcomatoid, spindled, and squamous elements. Patients usually present with a fast-growing, large, well-circumscribed, mobile lump in the breast, which can become painful and involve the chest wall and the skin, leading to ulceration.|ORDO|N|
C1334711|A very rare pleomorphic adenoma of the salivary glands that metastasizes inexplicably, despite the benign histopathologic features. The most common sites of metastasis are bone, lung, and head and neck.|NCI|N|
C1334712|A very rare benign neoplasm that metastasizes inexplicably. This category includes metastasizing pleomorphic adenoma of the salivary gland and uterine corpus metastasizing leiomyoma.|NCI|N|
C1334713|An Ewing sarcoma of the bone which has spread from its original site of growth to another anatomic site.|NCI|N|
C1334714|A well differentiated neuroendocrine tumor that arises from the breast and has metastasized to other anatomic sites.|NCI|N|
C1334715|A carcinoid tumor that has extended beyond its original site of growth to other anatomic sites.|NCI|N|
C1334716|A carcinoma that has spread to the adrenal cortex from an adjacent or distal anatomic site.|NCI|N|
C1334717|A carcinoma that has spread to the adrenal medulla from an adjacent or distant anatomic site.|NCI|N|
C1334718|A small round cell tumor with or without neural differentiation that has spread from its original site of growth to another anatomic site.|NCI|N|
C1334720|The presence of malignant Schwann cell growth (benign variant is known as neurofibroma) at a site removed from the primary site of tumor growth.|NCI|N|
C1334722|A meningioma that has spread from its original site of growth to another anatomic site.|NCI|N|
C1334723|A malignant neoplasm that has spread from its original site of growth to the brain in an adult patient.|NCI|N|
C1334728|A malignant neoplasm that has spread to the iris from another anatomic site.|NCI|N|
C1334731|A malignant neoplasm that has spread to the nasopharynx from another anatomic site.|NCI|N|
C1334735|A non-cutaneous melanoma that has spread from its original site of growth to another anatomic site.|NCI|N|
C1334736|A primary small cell carcinoma of the ovary that is associated with hypercalcemia and has metastasized to other anatomic sites.|NCI|N|
C1334740|A signet ring cell carcinoma that arises from the breast and has metastasized to other anatomic sites.|NCI|N|
C1334743|A squamous cell carcinoma that arises from the breast parenchyma and has metastasized to other anatomic sites.|NCI|N|
C1334746|A diffuse large B-cell lymphoma that develops in patients who are immunosuppressed with methotrexate.|NCI|N|
C1334747|A follicular lymphoma that develops in patients who are immunosuppressed with methotrexate.|NCI|N|
C1334748|A Hodgkin lymphoma that develops in patients who are immunosuppressed with methotrexate.|NCI|N|
C1334749|Rare immunodeficiency-associated lymphoproliferative disease with characteristics of lymphoid proliferation or lymphomas (large B-cell lymphoma, T-cell lymphoma, Hodgkin lymphoma, reactive lymphadenitis and a polymorphic post-transplant lymphoproliferative disorder) that develop in patients with different autoimmune diseases treated with methotrexate. Swelling is the predominant manifestation of the disease and regression after methotrexate withdrawal is observed in a significant proportion of patients.|SNOMEDCT_US|N|
C1334750|A peripheral T-cell lymphoma that develops in patients who are immunosuppressed with methotrexate.|NCI|N|
C1334753|A rare variant of breast adenosis characterized by the proliferation of small round glands in a collagenous stroma. The epithelial cells are cuboidal and there are no myopepithelial cells present. There is no evidence of atypia.|NCI|N|
C1334755|A malignant neoplasm that has minimal stromal invasion.|NCI|N|
C1334756|A morphologic finding indicating the presence of a growth pattern dominated by the presence of small papillary structures.|NCI|N|
C1334757|A meningioma that affects the middle cranial fossa.|NCI|N|
C1334758|A rare adenocarcinoma that arises from the middle ear.|NCI|N|
C1334759|A benign, well-circumscribed glandular neoplasm that arises from the middle ear and may exhibit neuroendocrine differentiation. It usually presents with conductive hearing loss.|NCI|N|
C1334760|A carcinoma that arises from the middle ear. This category includes adenocarcinoma and squamous cell carcinoma.|NCI|N|
C1334761|A jugulotympanic paraganglioma arising from paraganglia in the middle ear.|NCI|N|
C1334762|A rare squamous cell carcinoma that arises from the middle ear.|NCI|N|
C1334763|A well-differentiated, low grade neoplasm with neuroendocrine differentiation that arises from the jejunum, ileum, proximal colon, or appendix. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent.|NCI|N|
C1334767|An adenocarcinoma with serous acinar cell differentiation that arises from the minor salivary glands.|NCI|N|
C1334768|An adenocarcinoma that arises from the minor salivary glands.|NCI|N|
C1334769|An aggressive carcinoma that arises from the minor salivary glands. It is characterized by the presence of malignant epithelial and myoepithelial cells forming cribriform, tubular, and solid patterns. It usually presents as a slow growing mass.|NCI|N|
C1334770|An infrequent small cell carcinoma that arises from a minor salivary gland. It is characterized by the presence of neuroendocrine differentiation and a high number of mitotic figures.|NCI|N|
C1334771|A carcinoma that arises from the minor salivary glands. Representative examples include adenoid cystic carcinoma, acinic cell carcinoma, polymorphous low grade adenocarcinoma, and mucinous adenocarcinoma.|NCI|N|
C1334772|A carcinoma that arises from a pleomorphic adenoma in the minor salivary glands. Patients usually present with a history of a long-standing tumor mass which grew rapidly in the past few months. Patients with non-invasive or minimally invasive carcinoma have an excellent prognosis. In cases where there is invasion of the surrounding tissues, the clinical course is aggressive.|NCI|N|
C1334773|A carcinoma that arises from the minor salivary glands. It usually presents as a firm and painless mass. It is characterized by the presence of epidermoid cells, mucus producing cells, and cells of intermediate type. The majority of cases have a favorable outcome.|NCI|N|
C1334774|A squamous cell carcinoma that affects the minor salivary glands.|NCI|N|
C1334775|A carcinoma that affects the minor salivary glands and is characterized by the presence of undifferentiated, anaplastic malignant epithelial cells.|NCI|N|
C1334776|A benign,intermediate, or malignant soft tissue neoplasm in which the line of differentiation is uncertain. Representative examples include neoplasm with perivascular epithelioid cell differentiation, alveolar soft part sarcoma, desmoplastic small round cell tumor, epithelioid sarcoma, extraskeletal myxoid chondrosarcoma, and synovial sarcoma.|NCI|N|
C1334779|Having to do with the presence of dividing (proliferating) cells. Cancerous tissue generally has more mitotic activity than normal tissues.|NCI|N|
C1334781|A gastrointestinal stromal tumor composed of a mixture of neoplastic epithelioid and spindle cells.|NCI|N|
C1334782|A melanoma arising from the choroid, ciliary body, or the iris. It is characterized by the presence of a mixture of spindle A melanoma cells, spindle B melanoma cells, and epithelioid melanoma cells.|NCI|N|
C1334783|A malignant germ cell tumor arising from the testis. It is characterized by a mixture of embryonal carcinoma, yolk sac, and seminomatous morphologic elements. Patients may present with painless or painful testicular swelling.|NCI|N|
C1334784|A subtype of hepatoblastoma characterized by the presence of epithelial and mesenchymal components.|NCI|N|
C1334785|A malignant germ cell tumor of the central nervous system characterized by the presence of at least two types of germ cell neoplasia.|NCI|N|
C1334786|A mixed epithelial and mesenchymal hepatoblastoma characterized by the presence of heterologous elements. The latter include neuroectoderm, endoderm, or melanin-holding cells. Muscle, cartilage and osteoid may or may not be present.|NCI|N|
C1334788|A lung carcinoma characterized by a combination of small cell carcinoma and squamous cell carcinoma.|NCI|N|
C1334791|A neoplasm whose histologic characteristics are intermediate between poorly differentiated and well differentiated.|NCI|N|
C1334792|An invasive prostate adenocarcinoma characterized by the presence of malignant cells exhibiting moderate differentiation.|NCI|N|
C1334793|A less common form of myeloid sarcoma composed of monoblasts. Monoblastic sarcoma may precede or occur simultaneously with acute monoblastic leukemia. (WHO 2001)|NCI|N|
C1334797|A clonal B-cell lymphoproliferative disorder arising as a result of post-transplant immunosuppression therapy. It is characterized by destructive infiltration of lymph nodes and extranodal sites by a monotonous population of transformed B-lymphocytes or plasma cells. The clonal cellular infiltrates fulfill the criteria for a diffuse large B-cell lymphoma, Burkitt lymphoma, or a plasma cell neoplasm.|NCI|N|
C1334798|A clonal lymphoproliferative disorder arising as a result of post-transplant immunosuppression therapy. It is characterized by destructive infiltration of lymph nodes and extranodal sites by a monotonous population of transformed lymphocytes or plasma cells. It includes two variants: monomorphic B-cell and monomorphic T/NK cell post-transplant lymphoproliferative disorders.|NCI|N|
C1334799|A clonal T-cell lymphoproliferative disorder arising as a result of post-transplant immunosuppression therapy. It is characterized by destructive infiltration of lymph nodes and extranodal sites by a monotonous population of transformed T-lymphocytes/NK-cells. The clonal cellular infiltrates fulfill the criteria for any of the T-cell or natural killer cell lymphomas.|NCI|N|
C1334801|A synovial sarcoma characterized by the presence of an epithelial or a spindle cell component only.|NCI|N|
C1334802|A microscopic finding that relates to the architectural patterns of a normal or abnormal cellular population in a tissue specimen.|NCI|N|
C1334803|A morphologic finding indicating the replacement of part of the glandular endometrial epithelium by nodular structures that contain non-keratinizing squamous cells.|NCI|N|
C1334804|The presence of an alteration in the ability to move one''s body or any body parts in accordance with one''s intent.|NCI|N|
C1334807|An invasive adenocarcinoma of the breast characterized by the presence of islands of small and uniform cells, surrounded by large amounts of mucin. Pure mucinous breast carcinomas generally have a favorable prognosis.|NCI|N|
C1334809|A variant of gastric adenocarcinoma with more than half of the tumor containing extracellular mucinous pools.|NCI|N|
C1334813|A carcinoma of the breast characterized by pools of mucin and islands of malignant squamous cells. Mucoepidermoid carcinomas of the breast are extremely rare.|NCI|N|
C1334814|A rare primary thymic carcinoma, characterized by the presence of squamous cells, intermediate type cells, and mucus-producing cells. The prognosis depends on histologic grade and stage.|NCI|N|
C1334815|A form of angiofollicular lymphoid hyperplasia characterized by fever, generalized lymphadenopathy, hypergammaglobulinemia, and dysfunction of multiple organs. Other signs and symptoms include anemia, thrombocytopenia, hepatomegaly, peripheral neuropathy and pleural effusions. Morphologically, in the majority of cases the lymph nodes show features of angiofollicular lymphoid hyperplasia of the plasma cell type. In a minority of cases, changes of angiofollicular lymphoid hyperplasia of the hyaline-vascular type are seen. In contrast to patients with localized disease who are usually cured following resection of the lesion, patients with the multicentric form of the disease may follow a progressive clinical course, complicated by infection, Kaposi sarcoma, or lymphoma.|NCI|N|
C1334817|A papillary carcinoma arising in the thyroid gland from multiple foci.|NCI|N|
C1334818|A rare benign tumor characterized by the formation of intra-abdominal multilocular cystic masses. It occurs more frequently in women of child-bearing age. In women, the masses are generally located on the peritoneal surface of the uterus and rectum, while in men they are generally located on the peritoneal surface of the bladder and rectum. The tumor can also spread into the upper portions of the peritoneal cavity. Appears to originate from the peritoneal mesothelium.There is no relation with asbestos exposure. Invasive or malignant progression has been described.|SNOMEDCT_US|N|
C1334819|A lesion arising from or having many locations.|NCI|N|
C1334820|A primary bone osteosarcoma affecting multiple bone sites.|NCI|N|
C1334824|The presence of multiple hamartomas in the lungs. Hamartomas are usually solitary lesions on chest-x-rays. Multiple lung hamartomas are rare.|NCI|N|
C1334825|Multiple meningiomas that arises from the spinal meninges.|NCI|N|
C1334826|A lobular hemangioma present in multiple anatomic sites.|NCI|N|
C1334828|Multiple painful, dome-shaped, translucent pink to skin-colored papules on oral mucosa. Histologically, the lesions may demonstrate dermal proliferation of well-demarcated nerve bundles associated with abundant mucin and surrounded by a distinct perineural sheath.|HPO|N|
C1334829|Multiple meningiomas that affect the skull base.|NCI|N|
C1334856|A morphologic variant of fetal rhabdomyoma characterized by the presence of a prominent myxoid stroma and primitive skeletal spindle cells.|NCI|N|
C1334857|A morphologic finding that indicates the presence of myxoid changes in the stroma of a tissue sample.|NCI|N|
C1334920|An adenocarcinoma that arises from the nasal cavity.|NCI|N|
C1334921|A primary lymphoma that affects the nasal cavity and the bulk of the tumor is in this anatomic area.|NCI|N|
C1334922|A primary non-Hodgkin lymphoma that affects the nasal cavity and the bulk of the tumor is in this anatomic area. The majority of the cases are nasal type extranodal NK/T-cell lymphomas and diffuse large B-cell lymphomas.|NCI|N|
C1334923|An olfactory neuroblastoma arising in the nasal cavity.|NCI|N|
C1334924|A non-neoplastic or neoplastic disorder that affects the nasal cavity or paranasal sinuses. Representative examples include inflammatory disorders, papillomas, and carcinomas.|NCI|N|
C1334925|A benign or malignant neoplasm that affects the nasal cavity or paranasal sinuses. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma.|NCI|N|
C1334926|A nasopharyngeal carcinoma characterized by the lack of keratinization and the presence of a dense lymphoplasmacytic infiltrate. It is subdivided into undifferentiated and differentiated types, based on the cytologic features of the malignant cells. The undifferentiated type is characterized by the presence of cells with large vesicular nuclei with prominent nucleoli and a syncytial pattern of growth. The differentiated type is characterized by the presence of smaller cells and cellular stratification reminiscent of transitional cell carcinoma. While morphologically distinct, both types have similar clinical presentation and prognosis.|NCI|N|
C1334927|A carcinoma that arises from the anatomic structures of the neck region.|NCI|N|
C1334928|A finding indicating the presence of cellular necrosis in a tissue specimen.|NCI|N|
C1334932|A test result that indicates that a specific disease, condition, or attribute being assessed is not present.|NCI|N|
C1334935|A neoplasm defined by its unique characteristic as they apply to clinical presentation and course, morphologic patterns, frequency, and/or age distribution.|NCI|N|
C1334936|A benign or malignant, primary or metastatic neoplasm with uncertain histogenesis.|NCI|N|
C1334941|A term that includes all polypoid growth from the inner lining of the mucous membrane.|NCI|N|
C1334942|A lymphoproliferative disorder arising as a result of post-transplant immunosuppression therapy. It is characterized by the presence of tissue destruction and effacement of the architecture of the involved tissues. There is clonal rearrangement of the immunoglobulin or the T-cell receptor genes. It includes the following variants: polymorphic, monomorphic, and classical Hodgkin lymphoma type post-transplant lymphoproliferative disorders.|NCI|N|
C1334943|An indication that the number of neoplastic promonocytes in a bone marrow sample have sharply increased when compared to a normal baseline or a previous sample measurement.|NCI|N|
C1334945|A neoplasm (disease) that involves the nerve plexus.|MONDO|N|
C1334946|Benign and malignant neoplasms arising from one or more of the cervical, thoracic, lumbar, sacral, or coccygeal nerve roots. The majority of these tumors are benign. Clinical manifestations may include pain, weakness and loss of sensation along the course of the involved nerve root. Large tumors may cause spinal cord compression.|NCI|N|
C1334948|A microscopic finding indicating that the neoplastic cells are arranged in compact nests in a tumor sample.|NCI|N|
C1334953|A family of tumors arising in the embryonal remnants of the sympathetic nervous system, which includes neuroblastoma, ganglioneuroblastoma, and ganglioneuroma.|HPO|N|
C1334955|A common pediatric extracranial tumor arising from neural crest cells. It involves the adrenal medulla and the sympathetic nervous system.|NCI|N|
C1334956|A morphologic category that includes neoplasms arising from cells that form and support the nervous system. Such neoplasms include neuroepithelial cell neoplasms and neoplasms that arise from the perineural sheaths (perineurial cell neoplasms and Schwann cell neoplasms).|NCI|N|
C1334957|The presence of a neoplasm (tumor) in the neurohypophysis, which is also known as the posterior lobe of the hypophysis.|HPO|N|
C1334962|A morphologic finding referring to an acute inflammatory infiltrate that is composed of polymorphonuclear cells.|NCI|N|
C1334963|A medulloblastoma developing in patients with multiple basal cell carcinomas. It is observed in patients with nevoid basal cell carcinoma syndrome and it is associated with PTCH gene inactivation.|NCI|N|
C1334966|A carcinoma that arises in the area of the nipple. Representative examples include Paget disease and skin squamous cell carcinoma.|NCI|N|
C1334967|A carcinoma that develops in the ducts of the nipple.|NCI|N|
C1334968|Nodular lymphocyte predominant Hodgkin lymphoma (NLPHL) is a rare subtype of Hodgkin lymphoma (HL; see this term) characterized histologically by malignant lymphocyte predominant (LP) cells and the absence of typical Hodgkin and Reed-Sternberg (HRS) cells.|ORDO|N|
C1334970|Medulloblastoma with extensive nodularity (MBEN) is a histological variant of medulloblastoma (see this term), an embryonic malignancy, most often located in the inferior medullary velum and then growing into the fourth ventricle, and presenting in infants and young children with symptoms of increased intracranial pressure such as headache, listlessness, vomiting, diplopia and papilledema. It is often associated with Gorlin syndrome (see this term) and has a relatively good prognosis.|ORDO|N|
C1334971|A benign or malignant neoplasm characterized by the formation of nodules by the proliferating neoplastic cells.|NCI|N|
C1334972|A morphologic architectural pattern characterized by the presence of proliferating non-neoplastic or neoplastic cells forming single or multiple nodules within a lesion.|NCI|N|
C1334974|A melanoma that arises from a site other than skin.|NCI|N|
C1334975|A neoplasm that is non-capsulated.|NCI|N|
C1334976|A benign or malignant non-epithelial neoplasm that affects the liver.|NCI|N|
C1334977|A rare neuroendocrine tumor of pancreas characterized by a well-differentiated epithelial pancreatic neuroendocrine neoplasm measuring at least 0.5 cm, without distinct hormonal syndrome. Tumors less than 0.5 cm are called microadenomas. Microadenomatosis is the multifocal occurrence of microadenomas. Histopathologic examination shows an organoid growth pattern and expression of synaptophysin and chromogranin A on immunohistochemistry. Tumors are often discovered incidentally, or patients may present with symptoms related to local or metastatic tumor spread. Microadenomas are considered benign, while larger tumors may behave in a malignant manner with extrapancreatic spread, metastasis, or recurrence.|SNOMEDCT_US|N|
C1334978|The most common type of renal cell carcinoma, characterized by a loss of genetic material of the short arm of chromosome 3. The most common symptom at the time of diagnosis is hematuria. The tumor has a golden-yellow color because of the abundance of intracytoplasmic lipid. This is a clinically aggressive type of renal cell carcinoma. The tumor usually metastasizes to unusual sites and late metastasis is common.|NCI|N|
C1334980|A non-Hodgkin lymphoma with variable clinical course.|NCI|N|
C1334983|A neoplastic process that is confined to the site of origin without morphologic evidence of cellular infiltration of the surrounding tissues.|NCI|N|
C1334985|A squamous cell carcinoma that arises centrally from the jaw. It is characterized by a solid pattern, lack of prominent keratinization, infiltration of the marrow spaces, and osseous resorption.|NCI|N|
C1334986|A radiologic finding indicating the presence of a metastatic tumor in the bone(s) without associated bone destruction.|NCI|N|
C1334988|A neoplasm for which no exact measurement may be obtained. This may be due to a size below detection, an invasive presentation, or pertain to an effusion or ascites.|NCI|N|
C1334989|A lesion characterized by the absence of clinical and/or morphologic criteria that are suggestive of melanoma.|NCI|N|
C1334990|A benign or malignant solid pathologic process that has not spread from its site of origin to another anatomic site.|NCI|N|
C1334991|A neoplasm that is confined to a specific site without evidence of spread to other anatomic sites.|NCI|N|
C1334994|A non-neoplastic disorder that affects the structures of the axilla. Representative examples include axillary lymphadenitis and axillary abscess.|NCI|N|
C1334996|A non-neoplastic disorder that affects the urinary bladder. Representative examples include cystitis, cystolithiasis, and urinary bladder rupture.|NCI|N|
C1334997|A non-neoplastic disorder that affects the bone or articular cartilage.|NCI|N|
C1334998|A non-neoplastic disorder that affects the breast. Representative examples include fibrocystic disease, gynecomastia, mastitis, and adenosis.|NCI|N|
C1334999|A non-neoplastic disorder that affects the heart and/or vessels. Representative examples include myocardial infarction, endocarditis, arteriosclerosis, thrombosis, and lymphedema.|NCI|N|
C1335001|A non-neoplastic disorder that affects the structures of the chest wall.|NCI|N|
C1335002|A non-neoplastic disorder that affects the conjunctiva.|NCI|N|
C1335003|A non-neoplastic disorder that affects the connective and soft tissue.|NCI|N|
C1335004|A non-neoplastic disorder that affects the cornea.|NCI|N|
C1335005|A non-neoplastic disorder that affects the teeth and/or the periodontal tissues. Representative examples include odontoma, enamel hypoplasia, and periodontitis.|NCI|N|
C1335006|A non-neoplastic disorder that affects the ear. Representative examples include infection, cholesteatoma, and hearing disorders.|NCI|N|
C1335007|A non-neoplastic disorder that affects the endocrine system. Representative examples include diabetes mellitus, hyperthyroidism, and adrenal gland insufficiency.|NCI|N|
C1335008|A non-neoplastic disorder that affects the pinna and/or the ear canal.|NCI|N|
C1335009|A non-neoplastic disorder that affects the eye.|NCI|N|
C1335010|A non-neoplastic disorder that affects the eyelid.|NCI|N|
C1335011|A non-neoplastic disorder that affects the gastrointestinal tract, anus, liver, biliary system, and pancreas. Representative examples include infections, ulcers, cirrhosis, and diverticulosis.|NCI|N|
C1335012|A non-neoplastic disorder that affects the testis or the ovary. Representative examples include gonadal agenesis, dysgenesis, and hypogonadism.|NCI|N|
C1335013|A non-neoplastic disorder that affects the hair. Representative examples may include alopecia, male pattern baldness, hirsutism, and hair shaft disorders.|NCI|N|
C1335014|A non-neoplastic disorder that affects the anatomic structures of the head and neck region.|NCI|N|
C1335015|A non-neoplastic disorder that affects the heart and/or the pericardium. Representative examples include congestive heart disease, endocarditis, and constrictive pericarditis.|NCI|N|
C1335017|A non-neoplastic disorder that affects the inner ear. Representative examples include infection and sensory hearing loss.|NCI|N|
C1335018|A non-neoplastic pathologic process that affects the larynx. Representative examples include laryngitis, vocal cord nodule, and laryngeal cleft.|NCI|N|
C1335019|A lung disorder not caused by a neoplasm. Representative examples include chronic obstructive pulmonary disease, atelectasis, lung infections, pulmonary fibrosis, and pneumoconiosis.|NCI|N|
C1335020|A non-neoplastic disorder that affects the structures of the mediastinum. Representative examples include mediastinitis and thymic hyperplasia.|NCI|N|
C1335021|A non-neoplastic disorder that affects the nasal cavity. Representative examples include rhinitis and Wegener granulomatosis.|NCI|N|
C1335022|A non-neoplastic disorder that affects the nasal cavity or paranasal sinuses. Representative examples include rhinitis, sinusitis, and mucocele.|NCI|N|
C1335023|A non-neoplastic disorder that affects the anatomic structures of the neck region. This category includes non-neoplastic disorders of the pharynx, larynx, thyroid gland, and parathyroid gland.|NCI|N|
C1335025|A non-neoplastic disorder that affects the oral cavity. Representative examples include inflammation, fibroepithelial polyp, and cleft palate.|NCI|N|
C1335026|A non-neoplastic disorder that affects the oral cavity or the lips.|NCI|N|
C1335027|A non-neoplastic disorder that affects the paranasal sinuses. Representative examples include sinusitis and mucocele.|NCI|N|
C1335028|A non-neoplastic disorder that affects the parathyroid glands. Representative examples include hyperparathyroidism and hypoparathyroidism.|NCI|N|
C1335030|A non-neoplastic disorder that affects the peritoneum. Representative examples include peritonitis and panniculitis.|NCI|N|
C1335031|A non-neoplastic disorder that affects the peritoneum and/or retroperitoneum.|NCI|N|
C1335032|A non-neoplastic disorder that affects the pharynx. Representative examples include pharyngitis and mucositis.|NCI|N|
C1335033|A non-neoplastic disorder that affects the pituitary gland. Representative examples include pituitary gland hypoplasia and apoplexy.|NCI|N|
C1335034|A non-neoplastic disorder that affects the pleura. Representative examples include pleural infection and pneumothorax.|NCI|N|
C1335035|A lymphoproliferative disorder arising as a result of post-transplant immunosuppression therapy. It is characterized by the lack of tissue destruction and the architectural preservation of the involved tissues. It includes two morphologic variants: plasmacytic hyperplasia and infectious mononucleosis-like lymphoproliferative disorders.|NCI|N|
C1335036|A non-neoplastic disorder that affects the renal parenchyma and/or renal pelvis. Representative examples include glomerulonephritis and pyelonephritis.|NCI|N|
C1335037|A non-neoplastic disorder that affects the male or female reproductive system. Representative examples include prostatitis, balanitis, phimosis, endometriosis, and pelvic inflammatory disease.|NCI|N|
C1335039|A non-neoplastic disorder that affects the retina.|NCI|N|
C1335040|A non-neoplastic disorder that affects the retroperitoneum.|NCI|N|
C1335041|A non-neoplastic disorder that affects the major or minor salivary glands.|NCI|N|
C1335043|A non-neoplastic disorder that affects the soft tissue.|NCI|N|
C1335044|A non-neoplastic disorder that affects the sternum.|NCI|N|
C1335045|A non-neoplastic disorder that affects the thorax and/or the organs of the thoracic cavity. Representative examples include pleural infection, mediastinitis, pneumonia, and chronic obstructive pulmonary disease.|NCI|N|
C1335046|A non-neoplastic disorder that affects the thymus. Representative examples include acute thymic involution and thymic hyperplasia.|NCI|N|
C1335047|A non-neoplastic disorder that affects the thyroid gland. Representative examples include hyperthyroidism, hypothyroidism, thyroiditis, and thyroid gland abscess.|NCI|N|
C1335048|A non-neoplastic disorder that affects the trachea. Representative examples include tracheitis, tracheal agenesis, and tracheal atresia.|NCI|N|
C1335049|A non-neoplastic disorder affecting the ureter.|NCI|N|
C1335050|A non-neoplastic disorder affecting the urethra.|NCI|N|
C1335051|A non-neoplastic disorder that affects the urinary system. Representative examples include urinary tract infections, urolithiasis, and acute kidney insufficiency.|NCI|N|
C1335052|A non-neoplastic disorder that affects the uvea.|NCI|N|
C1335053|A term that includes all non-neoplastic vascular disorders.|NCI|N|
C1335059|A group of testicular cancers that begin in the germ cells (cells that give rise to sperm). Nonseminomas are identified by the type of cell in which they begin and include embryonal carcinoma, teratoma, choriocarcinoma, and yolk sac carcinoma.|MONDO|N|
C1335060|A carcinoma characterized by the presence of large adenocarcinoma cells.|NCI|N|
C1335061|Chronic endometritis characterized by the presence of plasmacytic infiltrates in the endometrium. There are no granulomas present.|NCI|N|
C1335062|Wilms tumor of the kidney characterized by the absence of nuclear anaplasia.|NCI|N|
C1335063|A rare soft tissue tumor of uncertain lineage characterized by the presence of neoplastic spindle to round cells forming cords in a fibromyxoid stroma. Metaplastic bone formation is not present.|NCI|N|
C1335067|A laboratory test result indicating an abnormally high quantity of immature red blood cells containing hemoglobin and a pyknotic nucleus.|NCI|N|
C1335069|A bone tumor arising from the remnants of the fetal notochord. This category includes the chordoma and benign notochordal cell tumor.|NCI|N|
C1335094|An adenosquamous lung carcinoma detectable by sputum cytology only. The primary tumor is undetectable radiographically or during bronchoscopy; therefore, it can not be assessed.|NCI|N|
C1335095|A large cell lung carcinoma detectable by sputum cytology only. The primary tumor is undetectable radiographically or during bronchoscopy; therefore, it can not be assessed.|NCI|N|
C1335096|A lung adenocarcinoma detectable by sputum cytology only. The primary tumor is undetectable radiographically or during bronchoscopy; therefore, it can not be assessed.|NCI|N|
C1335097|A lung carcinoma detectable by sputum cytology or bronchial washings only. The primary tumor is undetectable radiographically or during bronchoscopy; therefore, it can not be assessed.|NCI|N|
C1335098|A non-small cell lung carcinoma detectable by sputum cytology only. The primary tumor is undetectable radiographically or during bronchoscopy; therefore, it can not be assessed.|NCI|N|
C1335099|A small cell lung carcinoma detectable by sputum cytology only. The primary tumor is undetectable radiographically or during bronchoscopy; therefore, it can not be assessed.|NCI|N|
C1335100|A squamous cell lung carcinoma detectable by sputum cytology only. The primary tumor is undetectable radiographically or during bronchoscopy; therefore, it can not be assessed.|NCI|N|
C1335101|Malignant neoplasm secondary to occupational exposure to carcinogens.|NCI|N|
C1335103|An extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue that arises from the ocular adnexa. It is the most common type of primary ocular adnexal lymphoma.|NCI|N|
C1335104|A cutaneous melanoma that arises in an old burn scar tissue.|NCI|N|
C1335106|A squamous cell carcinoma of the skin that arises from burn scars. It usually manifests between 20 and 40 years after the original burn.|NCI|N|
C1335107|A meningioma that affects the olfactory sulcus.|NCI|N|
C1335110|Oligodendrogliomas are cerebral tumors that are differentiated from other gliomas on the basis of their unique genetic characteristics and better response to chemotherapy. These tumors are classified according to their grade (low grade oligodendrogliomas: grade II of the WHO classification and anaplastic oligodendrogliomas: grade III of the WHO classification) and according to their pure or mixed histology (oligoastrocytomas).|ORDO|N|
C1335113|A cholangiocarcinoma that has developed following infection with Opisthorchis viverrini.|NCI|N|
C1335114|An astrocytoma occurring in the optic nerve.|NCI|N|
C1335115|An adenocarcinoma that arises from the oral cavity.|NCI|N|
C1335116|A monomorphic or pleomorphic adenoma that arises from the salivary glands in the oral cavity.|NCI|N|
C1335117|A granular cell tumor that arises from the oral cavity and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C1335118|A rare neoplasm that arises from the oral cavity, usually the tongue. It is characterized by the presence of plump eosinophilic cells with abundant granular cytoplasm. The neoplastic cells extend into the surrounding tissues, usually skeletal muscle. The vast majority of cases follow a benign clinical course. Recurrences are rare after removal of the tumor.|NCI|N|
C1335119|A benign smooth muscle neoplasm arising from the oral cavity. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.|NCI|N|
C1335120|A benign adipose tissue neoplasm of the oral cavity. It usually occurs within the lingual and buccal mucosa.|NCI|N|
C1335121|A benign epithelial neoplasm arising from the salivary glands in the oral cavity. It is characterized by the presence of a monomorphic cellular infiltrate.|NCI|N|
C1335122|A rare melanoma that arises from the oral cavity. It is associated with a poor prognosis.|NCI|N|
C1335123|A benign, slow-growing and painless neoplasm that arises from the salivary glands in the oral cavity. It is composed of cells that demonstrate both epithelial and mesenchymal differentiation.|NCI|N|
C1335124|A malignant soft tissue neoplasm that arises from the oral cavity. Representative examples include Kaposi sarcoma and angiosarcoma.|NCI|N|
C1335125|A premalignant pathologic process that affects the mucosa surface of the oral cavity or lip. It includes leukoplakia, erythroplakia, and smoker''s keratosis.|NCI|N|
C1335126|A malignant mesenchymal neoplasm that arises in the orbit. It is characterized by the presence of round cells with myoblastic differentiation and a fibrovascular stroma.|NCI|N|
C1335127|A malignant mesenchymal neoplasm that arises from the orbit. It is characterized by the presence of skeletal muscle tissue exhibiting embryonic features.|NCI|N|
C1335128|A hemangioma arising from the orbit.|NCI|N|
C1335130|An extra-adrenal paraganglioma arising from the orbit. Patients may present with visual disturbances or proptosis.|NCI|N|
C1335131|A malignant soft tissue neoplasm that arises from the structures of the orbit. The majority of the cases are rhabdomyosarcomas.|NCI|N|
C1335139|A rare adenoid cystic carcinoma that arises from the oropharynx.|NCI|N|
C1335140|A benign exophytic growth that arises from the oropharynx.|NCI|N|
C1335141|A benign exophytic neoplasm that arises from the oropharynx. It is characterized by the presence of a connective tissue core covered by stratified squamous epithelium [NCI thesaurus].|HPO|N|
C1335146|A benign, intermediate, or malignant bone-forming neoplasm. Representative examples include osteoma, osteoblastoma, and osteosarcoma.|NCI|N|
C1335147|A neoplasm that involves bone destruction.|NCI|N|
C1335149|An osteosarcoma arising from the breast tissue.|NCI|N|
C1335150|An osteosarcoma arising from the brain or spinal cord.|NCI|N|
C1335151|An additional finding not previously noted.|NCI|N|
C1335152|A malignant vascular neoplasm arising from the ovary.|NCI|N|
C1335153|A well differentiated neuroendocrine neoplasm that arises from the ovary. Histologically, it is classified as insular, trabecular, mucinous, or stromal carcinoid. Clinical manifestations of carcinoid syndrome occur in approximately thirty percent of patients with insular carcinoid tumor. Carcinoid syndrome is rare in other types of primary ovarian carcinoid tumor. With the exception of mucinous carcinoid tumor, the prognosis is favorable. Primary ovarian mucinous carcinoid tumor has a more aggressive clinical course and it can metastasize to other anatomic sites.|NCI|N|
C1335154|A benign neoplasm arising from soft tissue of the ovary. It is characterized by the presence of spindle-shaped fibroblasts and increased cellularity.|NCI|N|
C1335155|A teratoma that arises from the ovary and is characterized by the presence of cystic structures. Representative example is the dermoid cyst.|NCI|N|
C1335156|An adult-type tumor that has derived from an ovarian dermoid cyst. Representative examples include dermoid cyst with secondary carcinoma, dermoid cyst with secondary sarcoma, and dermoid cyst with pituitary-type tumor.|NCI|N|
C1335158|A benign neoplasm of the ovary characterized by the presence of cystic structures lined by endometrial-type well-differentiated cells in a fibrotic stroma.|NCI|N|
C1335159|A benign, borderline, or malignant epithelial tumor of the ovary characterized by the presence of glands and/or cysts lined by neoplastic cells that resemble endometrial cells.|NCI|N|
C1335161|A usually aggressive malignant neoplasm arising from the ovary. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern.|NCI|N|
C1335162|A group of sex cord-stromal tumors that arise from the ovary. These tumors are characterized by the presence of granulosa cells, stromal cells, and/or theca cells. This group includes granulosa cell tumor and tumors of the thecoma/fibroma group.|NCI|N|
C1335163|An aggressive malignant smooth muscle neoplasm, arising from the ovary. It is characterized by a proliferation of neoplastic spindle cells.|NCI|N|
C1335164|A rare, benign steroid tumor that arises from the ovary and is composed of Leydig cells that contain Reinke crystals. It usually affects postmenopausal women and in most cases, is associated with androgenic manifestations.|NCI|N|
C1335165|A liposarcoma that arises from the ovary.|NCI|N|
C1335166|A neoplasm that arises from the ovary and is characterized by the presence of germ cell and sex cord-stromal tissues that are intimately admixed. If there is no malignant germ cell component present, the clinical course is benign.|NCI|N|
C1335167|Mucinous adenocarcinoma of ovary is a rare, malignant epithelial tumor of the ovary characterized, macroscopically, by a large, usually unilateral tumor with smooth surface and evenly distributed cystic and solid areas and, histologically, by a complex papillary growth pattern with microscopic cystic glands and necrotic debris. Patients often present with pelvic pain and pressure, abdominal mass or gastrointestinal problems such as early satiety or bloating.|ORDO|N|
C1335168|Ovarian mucinous neoplasms consist of borderline tumors (tumors of low malignant potential, or LMP tumors), intraepithelial (non-invasive) carcinoma, and invasive carcinoma.|HPO|N|
C1335169|A biphasic neoplasm that arises from the ovary and is characterized by the presence of mullerian-type epithelial tissue in a mesenchymal sarcomatous stroma. The presence of a high grade sarcomatous component is associated with recurrences and metastases.|NCI|N|
C1335170|A liposarcoma that arises from the ovary and is composed of round to oval mesenchymal cells, small signet ring lipoblasts, and a rich network of capillaries in a myxoid stroma.|NCI|N|
C1335171|A myxoma arising from the ovary.|NCI|N|
C1335172|An epithelial neoplasm with neuroendocrine differentiation that arises from the ovary. It includes carcinoid tumor, small cell carcinoma pulmonary type, and large cell neuroendocrine carcinoma.|NCI|N|
C1335173|A non-neoplastic disorder that affects the ovary. Representative examples include endometriosis and polycystic ovarian disease.|NCI|N|
C1335174|A carcinoma that arises from the ovary and is characterized by the presence of large malignant cells exhibiting neuroendocrine differentiation. The prognosis is poor.|NCI|N|
C1335175|A serous cystadenoma of the ovary characterized by the presence of small papillary projections in the inner surface of the cysts.|NCI|N|
C1335176|A malignant mesenchymal tumor with skeletal muscle differentiation affecting the ovaries.|NCI|N|
C1335177|An adenocarcinoma that arises from the ovary and is characterized by the presence of malignant epithelial cells that, in well differentiated tumors, resemble the epithelium of the fallopian tube or, in poorly differentiated tumors, show anaplastic features and marked nuclear atypia.|NCI|N|
C1335178|A serous adenocarcinoma that arises from the ovary and is characterized by the presence of a papillary architectural pattern.|NCI|N|
C1335180|A benign, intermediate, or malignant mesenchymal neoplasm of the ovary. Representative examples include leiomyoma, myxoma, and sarcoma.|NCI|N|
C1335181|A mature teratoma that arises from the ovary and presents as a large solid mass. It contains multiple cysts that vary in size. Small foci of hemorrhage are also present.|NCI|N|
C1335183|A benign serous neoplasm characterized by the presence of papillary proliferations on the surface of the ovary.|NCI|N|
C1335184|A carcinoma that arises from the ovary and is characterized by the presence of malignant epithelial cells that resemble malignant urothelial cells.|NCI|N|
C1335255|An internationally developed presurgical anatomic staging system using imaging techniques: Tumor involves only 1 quadrant; 3 adjoining liver quadrants are free of tumor. (from PDQ 2004)|NCI|N|
C1335256|An internationally developed presurgical anatomic staging system using imaging techniques: Tumor involves 2 adjoining quadrants; 2 adjoining quadrants are free of tumor. (from PDQ 2004)|NCI|N|
C1335257|An internationally developed presurgical anatomic staging system using imaging techniques: Tumor involves 3 adjoining quadrants or 2 nonadjoining quadrants; 1 quadrant or 2 nonadjoining quadrants are free of tumor. (from PDQ 2004)|NCI|N|
C1335258|An internationally developed presurgical anatomic staging system using imaging techniques: Tumor involves all 4 quadrants; there is no quadrant free of tumor. (from PDQ 2004)|NCI|N|
C1335295|A myofibroblastoma arising from the inguinal lymph nodes. It is characterized by the presence of nuclear palisading.|NCI|N|
C1335299|A carcinoma that arises from the pancreas showing both ductal and squamous differentiation. The squamous component should represent at least 30% of the malignant cellular infiltrate. The prognosis is usually worse than that of ductal adenocarcinoma.|NCI|N|
C1335300|An ectopic ACTH producing pancreatic neuroendocrine tumor. It may be associated with Cushing syndrome. Most patients present with metastases at the time of diagnosis and the prognosis is usually poor.|NCI|N|
C1335301|A usually malignant neuroendocrine tumor arising from the delta cells of the pancreas. It may be associated with inappropriate secretion of somatostatin and an associated clinical syndrome, or it may be hormonally inactive (non-functioning).|NCI|N|
C1335302|An infiltrating adenocarcinoma that arises from the epithelial cells of the pancreas. It affects males more often than females and the patients are usually over 50 years of age. Microscopically it is characterized by the presence of glandular (ductal) differentiation and desmoplastic stroma formation. Signs and symptoms include pain, loss of weight, and jaundice. It grows rapidly and is usually detected after it has metastasized to other anatomic sites. The prognosis is usually poor.|NCI|N|
C1335303|A pancreatic ductal adenocarcinoma characterized by the presence of adenocarcinoma cells with foamy cytoplasm.|NCI|N|
C1335304|Intraductal papillary mucinous carcinoma of pancreas is a rare epithelial tumor of pancreas characterized by malignant, mucin-producing cystic mass, originating from the pancreatic ductal system, associated with local invasion and metastatic spread, composed of mucin-producing, columnar epithelial cells covering the dilated pancreatic ducts with a papillary structure. The presenting symptoms are non-specific and include abdominal pain, pancreatitis, steatorrhea, jaundice and diabetes. Many patients are asymptomatic at the time of diagnosis.|ORDO|N|
C1335305|A non-invasive pancreatic intraductal papillary mucinous neoplasm characterized by the presence of neoplastic epithelial cells that exhibit nuclear stratification, loss of polarity, and crowding. There is moderate nuclear hyperchromasia.|NCI|N|
C1335307|A lymphoma that arises from the pancreas with the bulk of the tumor localized to this organ. The vast majority of cases are non-Hodgkin lymphomas of B-cell phenotype and include mucosa-associated lymphoid tissue lymphomas, follicular lymphomas, and diffuse large B-cell lymphomas.|NCI|N|
C1335309|A rare, epithelial tumor of the pancreas characterized, histologically, by columnar, mucin-producing epithelium associated with ovarian-type subepithelial stroma, which does not communicate with the pancreatic ductal system, most frequently localized to the body or tail of the pancreas. Clinically, small tumors (<3 cm) are usually asymptomatic, while large tumors typically present obstructive jaundice, a palpable abdominal mass, and may associate portal hypertension, hemobilia and diabetes mellitus.|ORDO|N|
C1335311|A neuroendocrine tumor arising from the delta cells of the pancreas. It is characterized by the absence of a hormone-related clinical syndrome.|NCI|N|
C1335312|A non-Hodgkin lymphoma that arises from the pancreas with the bulk of the tumor localized to this organ. The vast majority of cases are of B-cell phenotype and include mucosa-associated lymphoid tissue lymphomas, follicular lymphomas, and diffuse large B-cell lymphomas.|NCI|N|
C1335314|A pathologic process that arises from the pancreas and has the potential to evolve into a malignant neoplasm.|NCI|N|
C1335315|A very rare, malignant, epithelial tumor of the pancreas composed of cystic structures lined by glycogen-rich clear cells, associated with local invasiveness often involving the spleen, duodenum and/or stomach and metastatic spread to the liver, peritoneum and/or lymph nodes. Presenting symptoms are variable and usually non-specific and include abdominal and/or flank pain, palpable abdominal mass, upper gastrointestinal bleeding, jaundice or abnormal serum liver enzymes, vomiting, anorexia and/or weight loss.|ORDO|N|
C1335316|A benign, non-metastasizing cystic epithelial neoplasm arising from the exocrine pancreas. It is composed of glycogen-rich epithelial cells which produce a watery fluid. Signs and symptoms include abdominal mass, abdominal pain, nausea, vomiting, and weight loss.|NCI|N|
C1335317|A rare pancreatic ductal adenocarcinoma with poor prognosis. It is characterized by the presence of malignant signet ring cells infiltrating the pancreatic parenchyma in an individual cell pattern.|NCI|N|
C1335319|A condition characterized by subcutaneous fat necrosis with heterotopic calcification. It often occurs as a result of injury to the area.|NCI|N|
C1335321|A benign or malignant papillary neoplasm that arises from the breast. It is characterized by the presence of epithelial proliferations that are supported by fibrovascular cores. Representative examples are intraductal papilloma and papillary carcinoma.|NCI|N|
C1335322|A squamous cell carcinoma that arises from the penis and is characterized by the presence of a papillary growth pattern.|NCI|N|
C1335323|Benign papillary proliferation within the ductal system of the breast parenchyma.|NCI|N|
C1335324|A benign, intermediate, or malignant neoplasm characterized by the presence of papillae lined by epithelial cells.|NCI|N|
C1335325|A morphologic variant of lung adenocarcinoma characterized by the presence of papillary structures.|NCI|N|
C1335326|A morphologic finding indicating the presence of a cellular infiltrate with papillary growth in a tissue sample.|NCI|N|
C1335327|A rare low-grade primary thymic adenocarcinoma characterized by a papillary growth pattern.|NCI|N|
C1335328|A type of hyperplasia that is characterized by variable thickening of the urinary tract epithelium and a slight papillary growth. The latter is not associated with the presence of fibrovascular cores. There is no evidence of atypia. The relationship between this lesion and papillary urothelial neoplasia is not clear. -- 2003|NCI|N|
C1335329|A benign or malignant neoplasm that arises from the urothelial lining of the urinary tract and is characterized by papillary formations.|NCI|N|
C1335334|A benign primary melanocytic tumor of the skin that presents as a dermal nodule. Morphologically, it is characterized by the presence of paraganglioma-like features that include a nested growth pattern of the tumor cells. The nests are composed of epithelioid cells and are separated by delicate fibrous strands. Cytoplasmic melanin is not present; however immunohistochemical studies have confirmed the melanocytic lineage of the tumor cells.|NCI|N|
C1335336|An adenocarcinoma that arises from the paranasal sinuses.|NCI|N|
C1335337|A rare adenoid cystic carcinoma that arises from the paranasal sinuses. It usually has an aggressive clinical course characterized by high recurrence rates and distant metastases.|NCI|N|
C1335338|A non-Hodgkin lymphoma that arises from the paranasal sinus and is characterized by the presence of a diffuse malignant infiltrate composed of large B-lymphocytes.|NCI|N|
C1335339|A lymphoma that arises from the paranasal sinus. Representative examples include diffuse large B-cell lymphoma and extranodal NK/T-cell lymphoma, nasal type.|NCI|N|
C1335340|A rare carcinoma that arises from the paranasal sinus. It is characterized by the presence of epidermoid cells, mucus producing cells, and cells of intermediate type.|NCI|N|
C1335341|A non-Hodgkin lymphoma that arises from the paranasal sinus. Representative examples include diffuse large B-cell lymphoma and extranodal NK/T-cell lymphoma, nasal type.|NCI|N|
C1335342|A malignant soft tissue neoplasm that arises from the paranasal sinus.|NCI|N|
C1335343|A papilloma that arises from the ciliated respiratory mucosa that lines the paranasal sinuses.|NCI|N|
C1335344|A sensory neuropathy caused by the effects of a distant neoplasm (usually a small cell carcinoma). It is usually caused by the production of anti-neuronal autoantibodies: anti-Hu (ANNA-1) or anti-CV2 (CRMP-5), which result in cytotoxic T-cell mediated destruction of dorsal root ganglia. It is the most common clinical presentation of paraneoplastic encephalomyelitis. Clinical signs include asymmetric paresthesia of the face, trunk and proximal extremities followed by lancinating pain, vibrioceptive and proprioceptive impairment, and muted reflexes. Clinical course usually follows a progressive neurologic deterioration which stabilizes at a level of severe, permanent disability.|NCI|N|
C1335346|A term that refers to a group of carcinomas that are caused by parasites.|NCI|N|
C1335347|A malignancy in which there is a well-documented association between a neoplastic process and a specific parasite as the causative agent.|NCI|N|
C1335348|A lipoma that arises from the paratesticular region. It is the most common paratesticular mesenchymal neoplasm.|NCI|N|
C1335349|A hyperplasia of the chief cells of the parathyroid gland.|NCI|N|
C1335350|A hyperplasia of the clear cells of the parathyroid gland.|NCI|N|
C1335351|A parathyroid gland adenoma composed predominantly or entirely of neoplastic cells with abundant granular eosinophilic cytoplasm.|NCI|N|
C1335352|An adenocarcinoma arising in the accessory urethral glands.|NCI|N|
C1335353|An adenocarcinoma with serous acinar cell differentiation that arises from the parotid gland. Patients usually present with a slow growing mass in the parotid area.|NCI|N|
C1335354|An adenocarcinoma that arises from the parotid gland.|HPO|N|
C1335355|An aggressive carcinoma that arises from the parotid gland. It is characterized by the presence of malignant epithelial and myoepithelial cells forming cribriform, tubular, and solid patterns. It usually presents as a slow growing mass. Patients develop pain because of the tendency of these carcinomas to invade perineural tissues.|NCI|N|
C1335356|A carcinoma that arises from a pleomorphic adenoma in the parotid gland. Patients usually present with a history of a long-standing tumor mass which grew rapidly in the past few months. Patients with non-invasive or minimally invasive carcinoma have an excellent prognosis. In cases where there is invasion of the surrounding tissues, the clinical course is aggressive.|NCI|N|
C1335357|An aggressive, high grade malignant tumor that arises from the parotid gland. It is characterized by the presence of a malignant epithelial and a sarcomatous component.|NCI|N|
C1335358|A hemangioma arising from the parotid gland.|NCI|N|
C1335359|A Kaposi sarcoma arising from the parotid gland.|NCI|N|
C1335360|A lipoma that arises from the parotid gland.|NCI|N|
C1335361|A lymphangioma arising from the parotid gland.|NCI|N|
C1335362|A benign epithelial neoplasm that arises from the parotid gland. It is characterized by the presence of a monomorphic cellular infiltrate.|NCI|N|
C1335363|A carcinoma that arises from the parotid gland. It usually presents as a firm and painless mass. It is characterized by the presence of epidermoid cells, mucus producing cells, and cells of intermediate type. It usually spreads to pre-auricular lymph nodes. The majority of cases have a favorable outcome.|NCI|N|
C1335364|A low-grade extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue arising from the parotid gland. It is the most common type of non-Hodgkin lymphoma in the parotid gland and is often associated with Sjogren syndrome. The prognosis is favorable.|NCI|N|
C1335365|A non-Hodgkin lymphoma that arises from the parotid gland. Representative examples include mucosa-associated lymphoid tissue lymphoma and diffuse large B-cell lymphoma.|NCI|N|
C1335366|A rare, benign epithelial neoplasm that arises from the parotid gland. It is composed of irregular proliferating nests and islands of epithelium, including solid and gland-like sebaceous elements, surrounded by lymphoid stroma. Patients present with a progressively enlarging and painless mass.|NCI|N|
C1335367|An invasive squamous cell carcinoma that arises from the parotid gland. It usually affects elderly patients and presents as a rapidly enlarging tumor mass, often associated with pain.|NCI|N|
C1335371|A lesion connected to the underlying tissue by a small stalk.|NCI|N|
C1335372|A Kaposi sarcoma arising from the penis.|NCI|N|
C1335373|A non-neoplastic disorder that affects the penis. Representative examples include phimosis, balanitis, and hypospadias.|NCI|N|
C1335377|An adenocarcinoma that arises from the periampullary region.|NCI|N|
C1335378|Carcinoma that has spread diffusely to the pericardium.|NCI|N|
C1335380|A benign smooth muscle neoplasm arising from the pericardium. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.|NCI|N|
C1335381|A Malignant mesothelioma originating from cells of the pericardium (the thin layer of mesothelium lining the heart).|HPO|N|
C1335382|A hemangioma arising from perineural tissues.|NCI|N|
C1335383|A meningioma that affects the periocular region.|NCI|N|
C1335387|A ganglioneuroblastoma arising from the peripheral nervous system.|NCI|N|
C1335388|A malignant vascular neoplasm arising from the peripheral nerves.|NCI|N|
C1335389|A tumor composed of mature adipocytes and fibrous tissue infiltrating the epineurium and peripheral nerves. It is often seen at birth or during childhood and may be associated with macrodactyly.|NCI|N|
C1335390|A benign papillary neoplasm that arises in a terminal ductal lobular unit. It is characterized by the presence of a fibrovascular core that is lined by benign epithelial and myoepithelial proliferations. Peripheral breast papillomas are often multiple and are usually found microscopically. Patients are often asymptomatic.|NCI|N|
C1335391|A benign or malignant, primary or metastatic neoplasm that affects the peritoneum and/or retroperitoneum.|NCI|N|
C1335392|A benign or malignant mesenchymal neoplasm arising from the perivascular cells of the connective and soft tissues. It is characterized by the presence of pericytes that grow in a circumferential pattern around vessels.|NCI|N|
C1335395|A meningioma that affects the petroclival region.|NCI|N|
C1335396|A meningioma that affects the petrous apex.|NCI|N|
C1335398|A non-neoplastic polyp that arises from the stomach and is characterized by the presence of smooth muscle branching bands, and hyperplasia with cystic dilatation of the foveolar epithelium.|NCI|N|
C1335399|An adenoid cystic carcinoma that arises from the pharynx.|NCI|N|
C1335409|A rare urogenital tumor characterized by stromal and epithelial components forming cysts lined by hyperplastic epithelium in a cellular or sarcomatoid stroma. The tumors may be clinically benign or malignant and tend to recur after transurethral resection. Metastatic spread is to lungs, bone and liver. Patients may present with obstructive voiding symptoms, dysuria, hematuria, urinary retention or a palpable abdominal mass. The prostate is palpably enlarged but feels soft and spongy.|SNOMEDCT_US|N|
C1335410|A hamartoma characterized by localized pilosebaceous apparatus malformation.|NCI|N|
C1335411|A glial uniloculated or multiloculated fluid-filled sac that either reside within or completely replace the pineal gland.|HPO|N|
C1335414|A choriocarcinoma (disease) that involves the pineal body.|MONDO|N|
C1335415|A dysgerminoma (disease) that involves the pineal body.|MONDO|N|
C1335417|A mature teratoma that arises from the pineal region.|NCI|N|
C1335418|A meningioma that affects the pineal gland.|NCI|N|
C1335419|A mature or immature teratoma that arises in the pineal region.|NCI|N|
C1335420|A yolk sac tumor that involves the pineal body.|MONDO|N|
C1335422|A meningioma that affects the pituitary stalk.|NCI|N|
C1335423|A non-neoplastic disorder that arises from the placenta. Representative examples include chorioamnionitis, infarction, and malformations.|NCI|N|
C1335425|A lymphoproliferative disorder that develops following an organ transplantation and exhibits plasma cell myeloma features.|NCI|N|
C1335426|A plasma cell neoplasm that arises in a patient with a history of organ transplantation.|NCI|N|
C1335428|An early post-transplant lymphoproliferative lesion characterized by plasmacytic proliferation and architectural preservation of the involved tissues. It often regresses either spontaneously or after reduction in immunosuppression. The immunoglobulin genes are not rearranged. In some cases, a polymorphic or monomorphic post-transplant lymphoproliferative disorder may follow this early lesion.|NCI|N|
C1335429|A plasmacytoma-like hematologic malignancy that arises in a patient with a history of organ transplantation.|NCI|N|
C1335433|Carcinoma that has spread diffusely to the pleura.|NCI|N|
C1335434|A benign adipose tissue neoplasm of the pleural cavity. It may be purely intra-thoracic or extend to the chest wall.|NCI|N|
C1335435|A benign schwannoma occurring in the pleura.|NCI|N|
C1335441|An angiosarcoma characterized by the presence of significant cytologic atypia, necrosis and high mitotic activity.|NCI|N|
C1335442|A usually aggressive malignant neoplasm arising from the deep soft tissue. It is characterized by the presence of poorly-differentiated spindle-shaped fibroblasts, collagenous stroma formation and increased mitotic activity.|NCI|N|
C1335444|A neoplasm whose histologic characteristics have regressed and are more similar to stem cells.|NCI|N|
C1335446|An invasive prostate adenocarcinoma characterized by the presence of poorly differentiated malignant cells.|NCI|N|
C1335447|A laboratory test result that indicates that a specific disease, condition, or attribute being assessed is present.|NCI|N|
C1335449|A meningioma that affects the posterior foramen magnum.|NCI|N|
C1335450|A carcinoma that arises from the posterior wall of the pharynx.|NCI|N|
C1335451|A squamous cell carcinoma that arises from the posterior wall of the pharynx.|NCI|N|
C1335452|An adenoid cystic carcinoma arising from the minor salivary glands in the base of the tongue.|NCI|N|
C1335453|A mucoepidermoid carcinoma arising from the minor salivary glands in the base of the tongue.|NCI|N|
C1335456|A benign, reactive lesion of the bladder, occurring status post bladder instrumentation; histologic exam demonstrates a fascicular growth pattern of plump or elongated spindle cells infiltrating the bladder wall without atypia or necrosis.|NCI|N|
C1335458|No distant metastases, tumor unresectable or resected with gross residual tumor, or positive lymph nodes. (from PDQ 2004)|NCI|N|
C1335459|No metastases, tumor grossly resected with microscopic residual disease (i.e., positive margins); or tumor rupture, or tumor spill at the time of surgery. (from PDQ 2004)|NCI|N|
C1335460|Distant metastases, regardless of the extent of liver involvement. (from PDQ 2004)|NCI|N|
C1335461|No metastases, tumor completely resected. (from PDQ 2004)|NCI|N|
C1335463|A term that refers to precancerous epithelial pathologic processes that affect the skin.|NCI|N|
C1335468|A polyp with severe dysplastic features.|NCI|N|
C1335469|A neoplasm of immature malignant lymphocytes (lymphoblasts) committed to the B-cell or T-cell lineage. Neoplasms involving the bone marrow and the peripheral blood are called precursor lymphoblastic leukemias or acute lymphoblastic leukemias. Neoplasms involving primarily lymph nodes or extranodal sites are called lymphoblastic lymphomas.|NCI|N|
C1335471|A hematologic disorder which does not display the morphologic and/or clinical characteristics of an overt malignancy. Representative examples include atypical lymphoproliferative disorders and myelodysplastic syndromes.|NCI|N|
C1335472|A neoplasm that is composed of dysplastic cells and there is no morphologic evidence of infiltration of the surrounding tissues.|NCI|N|
C1335473|A chondrosarcoma arising from the central portion of bone without a benign precursor.|NCI|N|
C1335476|An anaplastic large cell lymphoma that affects the brain, meninges, or spinal cord.|NCI|N|
C1335478|A cerebral lymphoma that arises in an immunocompetent host.|NCI|N|
C1335481|A rare extracranial meningioma that arises from the skin.|NCI|N|
C1335482|An extranodal Burkitt lymphoma that arises from the stomach with the bulk of the mass located in the stomach.|NCI|N|
C1335483|An extranodal diffuse large B-cell lymphoma that arises from the stomach with the bulk of the mass located in the stomach.|NCI|N|
C1335484|A rare, extranodal T-cell non-Hodgkin lymphoma that arises from the stomach with the bulk of the mass located in the stomach.|NCI|N|
C1335486|A non-keratinizing or keratinizing squamous cell carcinoma that arises centrally from the jaw. It is characterized by a solid pattern, infiltration of the marrow spaces, and osseous resorption.|NCI|N|
C1335487|A rare squamous cell carcinoma that arises centrally from the jaw from the lining of an odontogenic cyst.|NCI|N|
C1335488|A rare meningioma that is present in the lung without clinical or radiologic evidence of central nervous system involvement.|NCI|N|
C1335489|A non-Hodgkin lymphoma that arises from the breast. There is no history of extramammary breast non-Hodgkin lymphoma and ipsilateral axillary lymph node involvement does not exclude the diagnosis of primary breast non-Hodgkin lymphoma. Most patients present with a painless breast lump. The vast majority of cases are B-cell non-Hodgkin lymphomas. Diffuse large B-cell lymphoma, follicular lymphoma, and extranodal marginal zone B-cell lymphoma of mucosa associated lymphoid tissue are the most common types of primary non-Hodgkin lymphoma of the breast.|NCI|N|
C1335491|A CD30 (Ki-1)-positive anaplastic large cell lymphoma with cytoplasmic and/or nuclear expression of the ALK (anaplastic lymphoma kinase) protein. It usually affects both the lymph nodes and extranodal sites (primarily skin, bones, lungs, and soft tissues), and has been associated with a favorable clinical outcome.|NCI|N|
C1335492|A T-cell peripheral lymphoma affecting multiple anatomic sites. It is composed of usually large, pleomorphic, CD30 positive T-lymphocytes with abundant cytoplasm. It is characterized by the presence of a translocation involving the ALK gene and expression of ALK fusion protein.|NCI|N|
C1335493|A T-cell non-Hodgkin lymphoma that arises from the breast as a primary tumor. Primary T-cell non-Hodgkin lymphomas of the breast are rare.|NCI|N|
C1335496|A central nervous system embryonal tumor, not otherwise specified which has spread from its original site to the leptomeninges surrounding the brain and spinal cord.|NCI|N|
C1335497|The term refers to the treatment that was performed in the effort to cure the neoplastic disease before (prior) the current or being currently planned treatment regimen or given clinical event. Primary treatment is usually surgery, chemotherapy, or radiation therapy, or combination of some or all modalities listed above.|NCI|N|
C1335499|A clinical, pathologic, and/or molecular finding indicating that the course of a disease is worsening in terms of extent or severity.|NCI|N|
C1335500|Breast fibrocystic change characterized by the presence of epithelial cell hyperplasia. There is no evidence of epithelial atypia.|NCI|N|
C1335502|An adenoid cystic carcinoma that arises from the prostate gland.|NCI|N|
C1335503|An infrequent invasive carcinoma of the prostate gland characterized by the presence of both glandular and squamous neoplastic components. It is more often located in the transitional zone of the prostate gland and it tends to rapidly metastasize to the bones.|NCI|N|
C1335504|A malignant vascular neoplasm arising from the prostate.|NCI|N|
C1335505|A carcinoma that arises from the prostate gland and has spread to the bone.|NCI|N|
C1335506|A carcinoma that arises from the prostate gland and has spread to the lungs.|NCI|N|
C1335508|An embryonal rhabdomyosarcoma arising from the prostate gland.|NCI|N|
C1335509|A Kaposi sarcoma arising from the prostate.|NCI|N|
C1335510|A benign smooth muscle neoplasm arising from the prostate. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.|NCI|N|
C1335511|An aggressive malignant smooth muscle neoplasm, arising from the prostate. It is characterized by a proliferation of neoplastic spindle cells.|NCI|N|
C1335512|A rare non-Hodgkin or Hodgkin lymphoma that arises from the prostate gland.|NCI|N|
C1335513|Acinar adenocarcinoma of the prostate gland characterized by the presence of lakes of extracellular mucin. This diagnosis applies when at least 25% of the resected tumor contains extracellular mucin.|NCI|N|
C1335514|Myeloid sarcoma that affects the prostate gland. It may present in association with or as a site of relapse of acute myeloid leukemia. Cases of myeloid sarcoma of the prostate gland preceding acute myeloid leukemia have also been reported.|NCI|N|
C1335515|A neoplasm with neuroendocrine differentiation that arises from the prostate gland.|NCI|N|
C1335516|A rare non-Hodgkin lymphoma that arises from the prostate gland.|NCI|N|
C1335517|A non-neoplastic disorder that affects the prostate gland. Representative examples include acute and chronic prostatitis.|NCI|N|
C1335518|A malignant mesenchymal neoplasm with skeletal muscle differentiation affecting the prostate.|NCI|N|
C1335519|A rare acinar adenocarcinoma of the prostate gland with unfavorable prognosis. It is composed of both malignant glandular and sarcomatous components. The sarcomatous component contains a malignant spindle cell proliferation or specific mesenchymal elements including osteosarcoma, chondrosarcoma, and leiomyosarcoma.|NCI|N|
C1335521|A rare malignant neoplasm arising from specialized prostatic stroma. It is characterized by the presence of stromal overgrowth and hypercellularity, increased number of mitotic figures, and pleomorphism.|NCI|N|
C1335523|A prostatic hyperplasia characterized by the presence of crowded adenomatous epithelial nodules.|NCI|N|
C1335524|A type of prostatic hyperplasia. It is characterized by the presence of nodules of dark basal cells around residual prostatic secretory cells.|NCI|N|
C1335525|A rare type of prostatic hyperplasia. It is characterized by hyperplastic glandular cells with clear cytoplasm.|NCI|N|
C1335563|An epithelioid sarcoma predominantly involving the pelvis, perineum, and genital organs. It tends to have a more aggressive clinical course as compared to the more frequently seen distal-type epithelioid sarcoma.|NCI|N|
C1335568|A morphologic finding indicating the presence of poorly cohesive neoplastic cells arranged around fibrovascular cores in a tissue sample.|NCI|N|
C1335570|A malignant vascular neoplasm arising from the pulmonary artery.|NCI|N|
C1335571|A rare choriocarcinoma that arises from a pulmonary artery.|NCI|N|
C1335572|An aggressive malignant smooth muscle neoplasm, arising from the pulmonary artery It is characterized by a proliferation of neoplastic spindle cells.|NCI|N|
C1335573|A premalignant pathologic process that affects the lungs. This category includes bronchial intraepithelial neoplasia and atypical adenomatous hyperplasia.|NCI|N|
C1335574|A neoplasm originating from the apical lung. Most superior sulcus neoplasms are bronchogenic carcinomas. This tumor may be associated with Pancoast syndrome. It is also known as Pancoast tumor.|NCI|N|
C1335575|An aggressive malignant smooth muscle neoplasm, arising from the pulmonary vein. It is characterized by a proliferation of neoplastic spindle cells.|NCI|N|
C1335577|A finding of pure erythroid leukemia that is not growing and responds to treatment.|NCI|N|
C1335579|A carcinoma that arises from the pyriform sinus. Patients usually present with advanced stage disease and the prognosis is poor.|NCI|N|
C1335656|A morphologic architectural pattern in which the tumor cells spread horizontally.|NCI|N|
C1335658|A meningioma that arises within the cranial cavity and results from exposure to radiation.|NCI|N|
C1335661|A malignant vascular neoplasm arising in an anatomic site exposed to radiation therapy.|NCI|N|
C1335662|Anemia arising due to radiation therapy.|NCI|N|
C1335666|A benign, epidermal skin lesion characterized by overexpression of collagen during wound healing.|NCI|N|
C1335677|An adenoma that arises from the rectum. It is characterized by the presence of severe epithelial dysplasia.|NCI|N|
C1335678|A well differentiated, low grade neuroendocrine neoplasm (carcinoid tumor) that arises from the rectum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent.|NCI|N|
C1335679|A serrated polypoid lesion that arises in the rectum. It rarely produces symptoms. This group includes goblet cell rich, mucin poor, and microvesicular hyperplastic polyps.|NCI|N|
C1335680|A non-neoplastic hamartomatous polyp that arises from the rectum. It is characterized by the presence of tortuous and cystically dilated glands, edematous changes, and inflammation.|NCI|N|
C1335681|A Kaposi sarcoma arising from the rectum.|NCI|N|
C1335682|A well-circumscribed benign smooth muscle neoplasm arising from the rectum. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.|NCI|N|
C1335683|An aggressive malignant smooth muscle neoplasm that arises from the rectum. It is characterized by a proliferation of neoplastic spindle cells.|NCI|N|
C1335684|A benign adipose tissue neoplasm of the rectum.|NCI|N|
C1335685|An extranodal lymphoma that arises from the rectum. The majority are B-cell non-Hodgkin lymphomas.|NCI|N|
C1335686|A neoplasm with neuroendocrine differentiation that arises from the rectum. It includes neuroendocrine tumors (well-differentiated neuroendocrine neoplasms) and neuroendocrine carcinomas (poorly differentiated neuroendocrine neoplasms).|NCI|N|
C1335687|A malignant mesenchymal tumor with skeletal muscle differentiation affecting the rectum.|NCI|N|
C1335688|A malignant soft tissue neoplasm that arises from the rectum. Representative examples include angiosarcoma, Kaposi sarcoma, and leiomyosarcoma.|NCI|N|
C1335689|A biphasic rectal carcinoma with a spindle cell, sarcomatoid component.|NCI|N|
C1335690|A rare epithelial tumor of the rectum, arising from squamous cells in the rectal epithelium, without the presence of squamous-lined fistulous tracts in the rectum or a proximal extension of SCC of anal or gynecological origin. The reported symptoms are often nonspecific, such as anorexia, weight loss, lower abdominal pain, rectal bleeding and changes of bowel habits.|ORDO|N|
C1335691|A neoplasm that arises from the glandular epithelium of the rectal mucosa. It is characterized by tubular and villous architectural patterns. The neoplastic glandular cells have dysplastic features.|NCI|N|
C1335693|The reemergence of anaplastic large cell lymphoma after a period of remission.|NCI|N|
C1335694|The reemergence of Ewing sarcoma of the bone after a period of remission.|NCI|N|
C1335695|The reemergence of brain stem astrocytoma in childhood after a period of remission.|NCI|N|
C1335697|The reemergence of central nervous system neoplasm in childhood after a period of remission.|NCI|N|
C1335698|The reemergence of optic nerve astrocytoma in childhood after a period of remission.|NCI|N|
C1335699|The reemergence of visual pathway astrocytoma in childhood after a period of remission.|NCI|N|
C1335700|The reemergence of female reproductive system carcinoma after a period of remission.|NCI|N|
C1335701|The reemergence of follicular lymphoma after a period of remission.|NCI|N|
C1335702|The reemergence of carcinoma in any part of the digestive system after a period of remission.|NCI|N|
C1335703|The reemergence of carcinoma in the head and neck region after a period of remission.|NCI|N|
C1335705|The reemergence of a carcinoma that affects the male reproductive system after a period of remission.|NCI|N|
C1335707|The reemergence of a malignant neoplasm of the endocervix after a period of remission.|NCI|N|
C1335708|The reemergence of a malignant neoplasm of the stomach after a period of remission.|NCI|N|
C1335710|The reemergence of malignant peripheral nerve sheath tumor after a period of remission.|NCI|N|
C1335711|The reemergence of mature T-cell and NK-cell non-Hodgkin lymphoma after a period of remission.|NCI|N|
C1335712|The reemergence of medulloblastoma after a period of remission.|NCI|N|
C1335713|The reemergence of a meningioma after a period of remission.|NCI|N|
C1335714|The reemergence of metastatic squamous cell carcinoma of unknown primary in the neck region after a period of remission.|NCI|N|
C1335715|A nevus that recurs after incomplete surgical removal, biopsy, or trauma. (WHO 2018)|NCI|N|
C1335716|The reemergence of nodular lymphocyte predominant Hodgkin lymphoma after a period of remission.|NCI|N|
C1335717|The reemergence of non-cutaneous melanoma after a period of remission.|NCI|N|
C1335718|The reemergence of carcinoma in the oral cavity after a period of remission.|NCI|N|
C1335719|The reemergence of a small round cell tumor with neural differentiation after a period of remission.|NCI|N|
C1335720|The reemergence of a primitive neuroectodermal tumor of the central or the peripheral nervous system after a period of remission.|NCI|N|
C1335721|Reemergence of a urinary system carcinoma after a period of remission.|NCI|N|
C1335723|Follicular lymphoma grade I, II, III that is resistant to treatment.|NCI|N|
C1335724|A hematologic malignancy that is resistant to treatment.|NCI|N|
C1335726|Mature B-cell non-Hodgkin lymphoma that does not respond to treatment.|NCI|N|
C1335727|Mature T-cell and NK-cell non-Hodgkin Lymphoma that is resistant to treatment.|NCI|N|
C1335729|A neoplasm that does not respond to treatment.|NCI|N|
C1335730|Nodular lymphocyte predominant Hodgkin lymphoma that is resistant to treatment.|NCI|N|
C1335731|T-lymphoblastic lymphoma that does not respond to treatment.|NCI|N|
C1335732|A medulloblastoma characterized by the loss of one of the p13 regions of chromosome 17. Loss of genetic material of chromosome arm 17p is the most common molecular genetic abnormality found in medulloblastomas.|NCI|N|
C1335733|Cutaneous melanoma characterized by the disappearance of the melanoma cells from the primary tumor.|NCI|N|
C1335734|The disappearance of the melanoma cells from the primary non-cutaneous melanoma site.|NCI|N|
C1335737|The reemergence of a hematologic malignancy after a period of remission.|NCI|N|
C1335743|An aggressive malignant smooth muscle neoplasm, arising from the kidney. It is characterized by a proliferation of neoplastic spindle cells.|NCI|N|
C1335744|A rare benign adipose tissue neoplasm of the kidney. It predominantly affects middle-aged females. It may originate from renal parenchymal fat or fat cells within the renal capsule. Clinical presentation includes hematuria and pain.|NCI|N|
C1335745|A rare malignant adipose tissue neoplasm of the fat cells surrounding the kidney, usually of the well-differentiated or myxoid type. It may be associated with tuberous sclerosis.|NCI|N|
C1335747|An osteosarcoma arising from the kidney.|NCI|N|
C1335748|Adenocarcinoma that affects the renal pelvis.|NCI|N|
C1335749|A carcinoma arising in the renal pelvis. The majority of renal pelvis carcinomas are transitional cell and less frequently squamous cell carcinomas.|NCI|N|
C1335750|A benign, mesodermal tumor located in the renal pelvis.|NCI|N|
C1335751|An endophytic urothelial neoplasm arising from the renal pelvis. It shares several morphologic features with urothelial papilloma.|NCI|N|
C1335752|An invasive urothelial carcinoma that arises from the renal pelvis and exhibits sarcomatoid features.|NCI|N|
C1335753|An aggressive malignant smooth muscle neoplasm, arising from the renal vein. It is characterized by a proliferation of neoplastic spindle cells.|NCI|N|
C1335756|A benign or malignant endocrine neoplasm that arises from the testis or the ovary.|NCI|N|
C1335757|Symptoms, physical examination results, and/or laboratory test results related to the reproductive system.|NCI|N|
C1335762|Increased reticular fiber deposition within bone marrow.|NCI|N|
C1335765|A neoplasm arising from the neural retina. This category includes retinoblastoma and retinocytoma.|NCI|N|
C1335774|A non-neoplastic or neoplastic disorder that affects the retroperitoneum.|NCI|N|
C1335775|A ganglioneuroma arising from the retroperitoneum.|NCI|N|
C1335776|A germ cell tumor that involves the retroperitoneal space.|MONDO|N|
C1335777|A benign or malignant hemangiopericytoma arising from the retroperitoneum.|NCI|N|
C1335779|A lymphoma involving the retroperitoneal area.|NCI|N|
C1335780|A benign mesenchymal neoplasm arising from the central nervous system. It consists of mature skeletal muscle tissue.|NCI|N|
C1335788|A semi-quantitative microscopic finding indicating 15 percent or more of the cells in a sample of erythroid precursor cells are ring sideroblasts.|NCI|N|
C1335893|A meningioma that arises from the meninges of the sacral region of the spinal cord.|NCI|N|
C1335894|A rare, aggressive carcinoma that arises from the salivary glands. It is characterized by the presence of a squamous and a glandular epithelial component.|NCI|N|
C1335896|A benign epithelial neoplasm primarily composed of branching and interconnecting cords of single and double-cell thick rows of columnar epithelium in a very loose stroma. It often occurs in the upper lip, where only pleomorphic adenoma is more frequent. Asymptomatic swelling of the upper lip is the most common clinical finding. It may present clinically and histologically as a multifocal lesion, a feature not generally seen with other intraoral salivary gland tumors.|NCI|N|
C1335897|A rare, low-grade adenocarcinoma that arises from the salivary glands. It presents as a slow growing asymptomatic mass and is characterized by the presence of multiple cystic spaces.|NCI|N|
C1335898|An uncommon benign epithelial tumor, characterized by predominantly unicystic or multicystic growth; there is focal intraluminal papillary proliferation of the lining epithelium. Nearly half occur in the parotid gland. In the minor salivary glands, women are affected more than men. In the major salivary glands, cystadenomas present as slowly enlarging, asymptomatic masses that may be slightly compressible. Cystadenocarcinoma is the malignant counterpart.|NCI|N|
C1335899|A benign papillary neoplasm that arises from the salivary glands. This category includes intraductal papilloma, inverted ductal papilloma, and sialadenoma papilliferum.|NCI|N|
C1335900|A carcinoma that arises from the salivary glands, most often the parotid gland. It presents as a slow growing and painless mass. It is characterized by the presence of duct-like structures lined by two layers of cells, an inner layer composed of epithelial-type cells and an outer layer composed of clear, myoepithelial-type cells.|NCI|N|
C1335901|An intraluminal papillary proliferation that causes unicystic dilatation of the duct and may have features in common with papillary cystadenoma. It is quite rare, and involves almost exclusively the excretory ducts of intraoral minor salivary glands. It presents as an asymptomatic submucosal swelling.|NCI|N|
C1335902|A very rare benign tumor of the minor salivary glands, characterized by a luminal papillary proliferation that arises at the junction of the salivary gland duct and the oral mucosal surface epithelium and expands as a nodular mass into the lamina propria. It presents as an asymptomatic mucosal swelling.|NCI|N|
C1335903|A carcinoma that arises from the salivary glands. It is the most common primary carcinoma of the salivary glands and usually presents as a firm and painless mass. It is characterized by the presence of squamous cells, mucus producing cells, and cells of intermediate type. The majority of cases have a favorable outcome.|NCI|N|
C1335904|A locally aggressive carcinoma that arises from the salivary glands, predominantly the parotid gland. It is characterized by the presence of a malignant cellular infiltrate exhibiting myoepithelial differentiation. Patients usually present with a painless mass.|NCI|N|
C1335906|A benign epithelial neoplasm composed of layers of oncocytes (small round nucleus, micro-granular, eosinophilic cytoplasm with numerous tightly-packed mitochondria)|HPO|N|
C1335907|A low grade malignant epithelial neoplasm arising from the salivary gland. It usually arises from the oral cavity, with approximately 60% of the cases involving the palate. The most common presenting sign is a painless mass in the palate. It is characterized by the presence of uniform, small to medium size malignant epithelial cells and an infiltrating pattern. There is a variety of morphologic patterns which may be present within an individual tumor, including lobular, papillary, papillary-cystic, cribriform, and trabecular pattern. It usually has a favorable clinical outcome and a low metastatic potential.|NCI|N|
C1335908|A rare, benign, encapsulated epithelial tumor composed of cells that form solid, variably shaped islands and cysts, both showing focal sebaceous differentiation. The mean age of patients is reported to be 58 years, and most tumors occur in the parotid gland. There is a male predominance. Most patients are asymptomatic.|NCI|N|
C1335909|A rare, benign epithelial neoplasm composed of irregular proliferating nests and islands of epithelium, including solid and gland-like sebaceous elements, surrounded by lymphoid stroma. Most occur in the parotid gland. Symptoms include a progressively enlarging, painless mass. Sebaceous lymphadenocarcinoma is the malignant counterpart.|NCI|N|
C1335910|An uncommon exophytic papillary proliferation that involves mucosal surface epithelium and salivary duct epithelium. It is exceptional among salivary gland neoplasms because it manifests as an exophytic papillary excrescence of the mucosa, rather than as a submucosal or intraglandular mass. It most often affects the hard or soft palate. It is generally asymptomatic.|NCI|N|
C1335913|A sarcoma with a total score of 2 or 3 according to the FNCLCC guidelines.|NCI|N|
C1335914|A sarcoma with a total score of 4 or 5 according to the FNCLCC guidelines.|NCI|N|
C1335915|A sarcoma with a total score of 6 or higher according to the FNCLCC guidelines.|NCI|N|
C1335917|A sarcoma with less than 15% necrosis.|NCI|N|
C1335918|A sarcoma with more than 15% necrosis.|NCI|N|
C1335923|A squamous cell carcinoma that arises from the penis and is characterized by the presence of malignant spindle-shaped cells.|NCI|N|
C1335924|A rare, usually aggressive, primary thymic carcinoma, characterized by the presence of tumor cells morphologically resembling soft tissue sarcoma.|NCI|N|
C1335926|A squamous cell carcinoma of the bladder that is caused by Schistosoma hematobium.|NCI|N|
C1335928|A benign schwannoma occurring in the twelfth cranial nerve.|NCI|N|
C1335929|Schwannomatosis is characterized by a predisposition to develop multiple schwannomas and, less frequently, meningiomas. Individuals with schwannomatosis most commonly present between the second and fourth decade of life. The most common presenting feature is localized or diffuse pain or asymptomatic mass. Schwannomas most often affect peripheral nerves and spinal nerves. Meningiomas occur in about 5% of individuals with schwannomatosis and have only been reported in individuals with SMARCB1-related schwannomatosis. Malignancy remains a theoretic risk especially in individuals with a SMARCB1 pathogenic variant.|GeneReviews|N|
C1335931|Breast adenosis characterized by the proliferation of acini, a lobulated architectural pattern, and stromal sclerosis. The luminal epithelial and myopepithelial cells are preserved. Microcalcifications and foci of apocrine metaplasia may be present.|NCI|N|
C1335932|A breast papilloma characterized by the presence of predominant sclerosing architectural features.|NCI|N|
C1335934|A basal cell carcinoma that arises from the scrotum.|NCI|N|
C1335936|A hemangioma arising from the skin of the scrotum.|NCI|N|
C1335937|A Hodgkin lymphoma that has spread to the cerebral hemisphere following the initial presentation in another nodal or extranodal site.|NCI|N|
C1335938|A chondrosarcoma that arises either in a pre-existing enchondroma or within the cartilaginous cap of a pre-existing osteochondroma.|NCI|N|
C1335939|A lymphoma that has spread to the heart from another primary anatomic site.|NCI|N|
C1335942|A broad classification of dysgammaglobulinemias characterized by low or undetectable serum levels of one of the five immunoglobulin classes. Deficiencies of immunoglobulins present variably according to isotype. Selective deficiencies may be caused by decreased or inefficient production from progenitor B cells without any corresponding decreases in the other isotypes. The clinical course and prognosis is dependent upon the severity of the selective deficiency and associated morbidity.|NCI|N|
C1335943|A hyperplasia of the sebaceous glands. It is usually seen as small yellow papules in the face of middle aged-older population.|NCI|N|
C1335952|Attached directly by the base; not having an intervening stalk.|NCI|N|
C1335964|An invasive breast adenocarcinoma characterized by the presence of malignant epithelial cells with signet ring appearance.|NCI|N|
C1335965|A poorly cohesive gastric adenocarcinoma characterized by malignant cells containing intracytoplasmic mucin.|NCI|N|
C1335966|A proliferation of endometrial cells resulting in glandular enlargement and budding without changes in the basic structure of the endometrium. Epithelial atypia is present.|NCI|N|
C1335967|A proliferation of endometrial cells resulting in glandular enlargement and budding without changes in the basic structure of the endometrium. Epithelial atypia is absent.|NCI|N|
C1335968|HPV-negative vulvar squamous intraepithelial proliferation characterized by atypia of the basal and parabasal keratinocytes in an otherwise well-differentiated epithelium. Despite its subtle appearance, it has a high risk of malignant transformation. (WHO 2020)|NCI|N|
C1335971|A benign or malignant mesenchymal neoplasm arising from skeletal muscle.|NCI|N|
C1335973|An aggressive variant of skin squamous cell carcinoma. It is characterized by the presence of nests of malignant basaloid squamous cells with scant amount of cytoplasm.|NCI|N|
C1335974|A squamous cell carcinoma of the skin histologically resembling a vascular tumor due to extreme acantholysis.|NCI|N|
C1335975|A chordoma that arises from the base of the skull.|NCI|N|
C1335976|A meningioma that arises from the skull base.|NCI|N|
C1335979|An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the extrahepatic bile ducts. It is characterized by the presence of malignant small cells.|NCI|N|
C1335980|A small cell neuroendocrine carcinoma arising from the thymus.|NCI|N|
C1335981|A hepatoblastoma composed exclusively of noncohesive sheets of small undifferentiated cells. Cases showing loss of INI1 nuclear staining should be classified as rhabdoid tumors.|NCI|N|
C1335982|An infrequent small cell carcinoma that arises from the salivary glands and is characterized by the presence of a high number of mitotic figures.|MONDO|N|
C1335983|A histologic variant of anaplastic large cell lymphoma characterized by the presence of a predominant population of small to medium size malignant cells with irregular nuclei.|NCI|N|
C1335990|A morphologic variant of Burkitt lymphoma that arises from the small intestine. It is characterized by marked nuclear pleomorphism, abundant apoptotic debris, and the presence of tangible body macrophages.|NCI|N|
C1335991|A Burkitt lymphoma that arises from the small intestine.|NCI|N|
C1335992|A somatostatin-producing neuroendocrine tumor that arises from the small intestine.|NCI|N|
C1335994|A usually aggressive malignant neoplasm arising from the small intestine. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern.|NCI|N|
C1335996|A gastrointestinal stromal tumor that arises from the small intestine. It usually affects adults over fifty years of age. The majority of cases have spindle cell morphology. The prognosis depends on the tumor size and the mitotic activity.|NCI|N|
C1335997|A precancerous neoplastic process that affects the small intestine. It is characterized by moderate or severe epithelial dysplasia and complex architectural alterations of the mucosal epithelium. There is no evidence of invasion.|NCI|N|
C1335998|A Hodgkin lymphoma that arises from the small intestine.|NCI|N|
C1335999|A precancerous neoplastic process that affects the small intestine. It is characterized by low or high grade dysplasia of the mucosal epithelium. There is no evidence of invasion.|NCI|N|
C1336001|A rare benign adipose tissue neoplasm of the small intestine. It usually arises from the submucosa and occasionally protrudes into the lumen.|NCI|N|
C1336002|A precancerous neoplastic process that affects the small intestine. It is characterized by mild epithelial dysplasia and mild architectural alterations of the mucosal epithelium. There is no evidence of invasion.|NCI|N|
C1336003|A mantle cell lymphoma that arises from the small intestine. It may present as an isolated mass in the small intestine or as a part of the multiple lymphomatous polyposis.|NCI|N|
C1336004|A mucosa-associated lymphoid tissue lymphoma (MALT) that arises from the small intestine. The morphologic characteristics are similar to those seen in gastric MALT lymphomas, with the exception of the lymphoepithelial lesions that are less prominent in the small intestine.|NCI|N|
C1336005|A neoplasm with neuroendocrine differentiation that arises from the small intestine. It includes neuroendocrine tumors (well-differentiated neuroendocrine neoplasms) and neuroendocrine carcinomas (poorly differentiated neuroendocrine neoplasms).|NCI|N|
C1336006|A B-cell or T-cell non-Hodgkin lymphoma that arises from the small intestine. Representative examples of B-cell non-Hodgkin lymphoma include diffuse large B-cell lymphoma, MALT lymphoma, alpha heavy chain disease/immunoproliferative small intestinal disease, Burkitt lymphoma, follicular lymphoma, and mantle cell lymphoma. The T-cell non-Hodgkin lymphomas are the enteropathy-associated T-cell lymphoma and the monomorphic CD56 positive intestinal T-cell lymphoma.|NCI|N|
C1336007|A malignant soft tissue neoplasm that arises from the small intestine. Representative examples include leiomyosarcoma, angiosarcoma, and Kaposi sarcoma.|NCI|N|
C1336008|An aggressive, high-grade, and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the small intestine. It is characterized by the presence of malignant small cells.|NCI|N|
C1336009|A neuroendocrine tumor that arises from the small intestine and produces vasoactive intestinal peptide.|NCI|N|
C1336011|Small lymphocytic lymphoma characterized by the presence of somatic hypermutation within the immunoglobulin heavy chain gene variable region of neoplastic clones. Patients have a better prognosis as compared to those with unmutated immunoglobulin heavy chain gene variable region rearrangements.|NCI|N|
C1336012|A small lymphocytic lymphoma characterized by the presence of neoplastic lymphocytes with plasmacytoid morphology.|NCI|N|
C1336013|Small lymphocytic lymphoma characterized by the absence of somatic hypermutation within the immunoglobulin heavy chain gene variable region of neoplastic clones. Patients have a significantly worse prognosis as compared to those with mutated immunoglobulin heavy chain gene variable region rearrangements.|NCI|N|
C1336015|An adult T-cell leukemia/lymphoma characterized by less than 5% neoplastic lymphocytes in the peripheral blood, absence of lymphadenopathy and hypercalcemia, and occasional skin or pulmonary lesions.|NCI|N|
C1336019|A granular cell tumor that arises from the soft palate and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C1336020|A benign, slow-growing and painless neoplasm that arises from the minor salivary glands in the soft palate. It is composed of cells that demonstrate both epithelial and mesenchymal differentiation.|NCI|N|
C1336021|A usually aggressive malignant neoplasm arising from the soft tissue. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern.|NCI|N|
C1336022|A malignant neoplasm arising in an anatomic site exposed to solar radiation.|NCI|N|
C1336023|Cutaneous melanoma that arises following exposure to solar radiation.|NCI|N|
C1336024|A squamous cell carcinoma arising in a skin site exposed to solar radiation.|NCI|N|
C1336025|A morphologic variant of alveolar rhabdomyosarcoma. It is characterized by the presence of a solid growth pattern and the absence of fibrovascular stroma.|NCI|N|
C1336026|A morphologic variant of lung adenocarcinoma characterized by the presence of polygonal malignant cells forming sheets. Acinar, papillary, micropapillary, or lepidic growth patterns are absent. If the tumor is 100 percent solid, intracellular mucin should be present in at least five tumor cells in each of two high-power fields and confirmed with mucin immunohistochemical stains. Tumors formerly classified as large cell carcinomas expressing pneumocyte immunohistochemical markers, even if intracellular mucin is absent, are now included in this category.|NCI|N|
C1336027|A well circumscribed, low grade neoplasm that arises from the breast. It is characterized by the presence of sheets of malignant epithelial cells that are supported by fibrovascular structures. When there is an invasive component present, it is usually a mucinous carcinoma.|NCI|N|
C1336028|A microscopic finding indicating that the neoplastic cells are arranged in solid sheets in a tumor sample.|NCI|N|
C1336029|A rare carcinoma of the pancreas characterized by a variable combination of nonspecific signs and symptoms, such as abdominal pain, jaundice, abdominal fullness, anorexia, nausea, vomiting, and weight loss. One-third of the patients are asymptomatic. The tumor has low malignant potential, but can invade locally.|ORDO|N|
C1336030|A low-grade malignant neoplasm that arises from the exocrine pancreas. It is characterized by the presence of uniform cells that form solid and pseudopapillary patterns, cystic changes, and hemorrhage. Perineural invasion, vascular invasion, and invasion into surrounding tissues may be present. It usually presents as an encapsulated, solitary, and lobulated pancreatic mass. It is usually found incidentally during physical examination or it may present with abdominal discomfort and pain. It occurs predominantly in young women. Complete removal of the tumor is curative in the majority of cases.|NCI|N|
C1336031|A solitary benign neoplasm arising from the fibrous soft tissues. The tumor is characterized by the presence of spindle-shaped fibroblasts.|NCI|N|
C1336036|A meningioma that affects the sphenocavernous region.|NCI|N|
C1336037|A benign neoplasm that arises from the ciliated respiratory mucosa that lines the sphenoid sinus. It results from the invagination and proliferation of epithelial cells in the underlying stroma.|NCI|N|
C1336038|A papilloma that arises from the ciliated respiratory mucosa that lines the sphenoid sinus.|NCI|N|
C1336039|A squamous cell carcinoma that arises from the mucosal epithelial surface of the sphenoid sinus. Patients may present with nasal fullness, obstruction, and/or epistaxis.|NCI|N|
C1336040|A meningioma that affects the sphenoorbital region.|NCI|N|
C1336043|A hamartoma that occurs in the spinal cord.|NCI|N|
C1336044|A non-Hodgkin or Hodgkin lymphoma that arises in the spinal cord as a primary lesion.|NCI|N|
C1336045|A melanoma that arises from the spinal cord.|NCI|N|
C1336046|A neuroblastoma that affects the spinal cord.|NCI|N|
C1336047|A neurofibroma that arises from the spinal cord.|NCI|N|
C1336048|A central nervous system embryonal tumor, not otherwise specified arising from the spinal cord.|NCI|N|
C1336049|A sarcoma that arises from the spinal cord.|NCI|N|
C1336051|A clear cell meningioma arising in multiple areas of the spinal cord characterized by the presence of clear glycogen-rich polygonal cells.|NCI|N|
C1336052|A benign or malignant neoplasm characterized by the presence of neoplastic spindle cells.|NCI|N|
C1336053|A benign lipomatous neoplasm characterized by the presence of an admixture of mature adipose tissue and bland spindle cells. The pleomorphic variant contains in addition multinucleated giant cells. It usually arises in the neck and upper trunk in older males.|NCI|N|
C1336054|A uveal melanoma characterized by the presence of malignant spindle-shaped melanocytes with slender nuclei and no visible nucleoli.|NCI|N|
C1336055|A uveal melanoma characterized by the presence of malignant spindle-shaped melanocytes with larger nuclei and distinct nucleoli.|NCI|N|
C1336056|A gastrointestinal stromal tumor composed of neoplastic spindle cells.|NCI|N|
C1336061|Infiltration and expansion of the white and red pulp of the spleen by B-cell prolymphocytic leukemia.|NCI|N|
C1336062|Infiltration of the spleen by chronic lymphocytic leukemia. It primarily involves the white pulp.|NCI|N|
C1336063|Infiltration and expansion of the red pulp and sinusoids of the spleen by chronic myelogenous leukemia, BCR-ABL1 positive.|NCI|N|
C1336064|Infiltration and expansion of the red pulp of the spleen by hairy cell leukemia.|NCI|N|
C1336065|Infiltration and expansion of the white and/or red pulp and sinusoids of the spleen by leukemic cells.|NCI|N|
C1336066|Infiltration and expansion of the white and red pulp of the spleen by prolymphocytic leukemia.|NCI|N|
C1336067|Infiltration and expansion of the red pulp cords and sinusoids of the spleen by T-cell large granular lymphocyte leukemia. The white pulp of the spleen is not involved and is often hyperplastic.|NCI|N|
C1336068|Infiltration and expansion of the white and red pulp of the spleen by T-cell prolymphocytic leukemia.|NCI|N|
C1336071|Non-Hodgkin lymphoma involving the spleen.|NCI|N|
C1336072|B-lymphoblastic lymphoma that involves the spleen.|NCI|N|
C1336073|Lymphoblastic lymphoma that affects the spleen.|NCI|N|
C1336074|T-lymphoblastic lymphoma that affects the spleen.|NCI|N|
C1336075|Small lymphocytic lymphoma occurring in the spleen.|NCI|N|
C1336076|A carcinoma that arises from the breast and is not caused by inherited genetic mutations.|NCI|N|
C1336077|A clinical variant of Burkitt lymphoma that occurs throughout the world. It affects both children and adults and is more frequently seen in males.|NCI|N|
C1336078|A papillary renal cell carcinoma that occurs in a patient who does not have a family history of papillary renal cell carcinoma nor is a carrier of an inherited DNA change that would increase the risk of developing this carcinoma.|NCI|N|
C1336079|A rare carcinoma that arises from the breast parenchyma and is entirely composed of squamous cells.|NCI|N|
C1336080|An intraepidermal squamous cell carcinoma involving the area of the nipple.|NCI|N|
C1336081|A squamous cell carcinoma that arises from the penis and cannot be classified according to other morphologic subtypes.|NCI|N|
C1336082|A rare primary thymic carcinoma, characterized by the presence of keratinizing or non-keratinizing malignant squamous cells. Approximately 10-20% of cases occur in combination with thymoma. The prognosis depends on the tumor stage and the degree of cellular differentiation.|NCI|N|
C1336083|A hyperplasia of the squamous epithelial cells.|NCI|N|
C1336084|A term referring to neoplastic changes in the bronchial epithelium manifested as dysplasia.|NCI|N|
C1336085|A benign exophytic neoplasm that arises from the nasopharynx. It is characterized by the presence of a connective tissue core covered by stratified squamous epithelium.|NCI|N|
C1336087|Stage 0 includes: Tis, N0, M0. Tis: Carcinoma in situ. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th Eds.)|NCI|N|
C1336089|Stage 0 includes: 0a (Ta, N0, M0); 0is (Tis, N0, M0). Ta: Noninvasive papillary carcinoma. Tis: Carcinoma in situ: ""flat tumor"". N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C1336091|Stage 0 includes: Tis, N0, M0. Tis: Carcinoma in situ. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th, 7th, and 8th eds.)|NCI|N|
C1336094|Stage 0 includes: 0a (Ta, N0, M0); 0is (Tis, N0, M0). Ta: Papillary noninvasive carcinoma. Tis: Carcinoma in situ. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C1336096|Intratubular germ cell neoplasia characterized by the filling of the seminiferous tubules by non-seminomatous malignant germ cells. The non-seminomatous malignant germ cells are usually of embryonal carcinoma type.|NCI|N|
C1336097|Intratubular germ cell neoplasia characterized by the complete filling of the seminiferous tubules by seminoma cells.|NCI|N|
C1336098|Stage 0 includes: 0a (Ta, N0, M0); 0is (Tis, N0, M0). Ta: Papillary noninvasive carcinoma. Tis: Carcinoma in situ. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C1336099|Stage 0 includes: 0a (Ta, N0, M0); 0is (Tis, N0, M0); (Tis pu, N0, M0); (Tis pd, N0, M0). Ta: Noninvasive papillary, polypoid, or verrucous carcinoma. Tis: Carcinoma in situ. Tis pu: Carcinoma in situ, involvement of the prostatic urethra. Tis pd: Carcinoma in situ, involvement of the prostatic ducts. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C1336100|Stage 0a includes: Ta, N0, M0. Ta: Papillary noninvasive carcinoma. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C1336101|Stage 0a includes: Ta, N0, M0. Ta: Papillary noninvasive carcinoma. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C1336102|Stage 0a includes: Ta, N0, M0. Ta: Papillary noninvasive carcinoma. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C1336103|Stage 0a includes: Ta, N0, M0. Ta: Noninvasive papillary, polypoid, or verrucous carcinoma. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C1336104|Stage 0is includes: Tis, N0, M0. Tis: Carcinoma in situ. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C1336109|Stage IA1 includes: T1a1, N0, M0. T1a1: Measured stromal invasion 3.0 mm or less in depth and 7.0 mm or less in horizontal spread. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C1336110|Stage IA2 includes: T1a2, N0, M0. T1a2: Measured stromal invasion more than 3.0 mm and not more than 5.0 mm with a horizontal spread 7.0 mm or less. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C1336111|Stage IA includes: (T1a, N0, M0); (T1b, N0, M0). T1a: Lung cancer with a tumor size of 2 cm or less in greatest dimension, surrounded by lung or visceral pleura and without bronchoscopic evidence of invasion more proximal than the lobar bronchus (i.e., not in the main bronchus). The uncommon superficial tumor of any size with its invasive component limited to the bronchial wall, which may extend proximal to the main bronchus, is also classified as T1a. T1b: Lung cancer with a tumor size more than 2 cm but 3 cm or less in greatest dimension, surrounded by lung or visceral pleura and without bronchoscopic evidence of invasion more proximal than the lobar bronchus (i.e., not in the main bronchus). N0: No regional lymph metastasis. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C1336112|Stage IA includes: T1, N0, M0, G1, G2, GX. T1: Tumor 8 cm or less in greatest dimension. N0: No regional lymph node metastasis. M0: No distant metastasis. G1: Well differentiated-low grade. G2: Moderately differentiated-low grade. GX: Grade cannot be assessed. (AJCC 7th ed.)|NCI|N|
C1336113|Stage IA includes: T1a, N0, M0. T1a: Tumor limited to the endometrium or invades less than one-half of the myometrium. N0: No regional lymph node metastasis. M0: No distant metastasis. This staging applies to carcinomas and carcinosarcomas. (AJCC 7th ed.)|NCI|N|
C1336114|Stage IA includes: T1a, N0, M0. T1a: Tumor limited to one tube, without penetrating the serosal surface; no ascites. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C1336115|Stage IA includes: T1, N0, M0. T1: Tumor invades lamina propria, muscularis mucosae, or submucosa. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C1336116|Stage IA includes: (T1a, N0, M0); (T1b, N0, M0). T1a: Lung cancer with a tumor size of 2 cm or less in greatest dimension, surrounded by lung or visceral pleura and without bronchoscopic evidence of invasion more proximal than the lobar bronchus (i.e., not in the main bronchus). The uncommon superficial tumor of any size with its invasive component limited to the bronchial wall, which may extend proximal to the main bronchus, is also classified as T1a. T1b: Lung cancer with a tumor size more than 2 cm but 3 cm or less in greatest dimension, surrounded by lung or visceral pleura and without bronchoscopic evidence of invasion more proximal than the lobar bronchus (i.e., not in the main bronchus). N0: No regional lymph metastasis. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C1336117|Stage IA includes: (T1a, N0, M0); (T1b, N0, M0). T1a: Lung cancer with a tumor size of 2 cm or less in greatest dimension, surrounded by lung or visceral pleura and without bronchoscopic evidence of invasion more proximal than the lobar bronchus (i.e., not in the main bronchus). The uncommon superficial tumor of any size with its invasive component limited to the bronchial wall, which may extend proximal to the main bronchus, is also classified as T1a. T1b: Lung cancer with a tumor size more than 2 cm but 3 cm or less in greatest dimension, surrounded by lung or visceral pleura and without bronchoscopic evidence of invasion more proximal than the lobar bronchus (i.e., not in the main bronchus). N0: No regional lymph metastasis. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C1336118|Stage IA includes: (T1a, N0, M0); (T1b, N0, M0). T1a: Lung cancer with a tumor size of 2 cm or less in greatest dimension, surrounded by lung or visceral pleura and without bronchoscopic evidence of invasion more proximal than the lobar bronchus (i.e., not in the main bronchus). The uncommon superficial tumor of any size with its invasive component limited to the bronchial wall, which may extend proximal to the main bronchus, is also classified as T1a. T1b: Lung cancer with a tumor size more than 2 cm but 3 cm or less in greatest dimension, surrounded by lung or visceral pleura and without bronchoscopic evidence of invasion more proximal than the lobar bronchus (i.e., not in the main bronchus). N0: No regional lymph metastasis. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C1336119|Stage IA includes: (T1a, N0, M0); (T1b, N0, M0). T1a: Lung cancer with a tumor size of 2 cm or less in greatest dimension, surrounded by lung or visceral pleura and without bronchoscopic evidence of invasion more proximal than the lobar bronchus (i.e., not in the main bronchus). The uncommon superficial tumor of any size with its invasive component limited to the bronchial wall, which may extend proximal to the main bronchus, is also classified as T1a. T1b: Lung cancer with a tumor size more than 2 cm but 3 cm or less in greatest dimension, surrounded by lung or visceral pleura and without bronchoscopic evidence of invasion more proximal than the lobar bronchus (i.e., not in the main bronchus). N0: No regional lymph metastasis. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C1336120|Stage IA includes: T1, N0, M0, G1, G2, GX. T1: Tumor 8 cm or less in greatest dimension. N0: No regional lymph node metastasis. M0: No distant metastasis. G1: Well differentiated-low grade. G2: Moderately differentiated-low grade. GX: Grade cannot be assessed. (AJCC 7th ed.)|NCI|N|
C1336121|Stage IA includes: T1a, N0, M0. T1a: Tumor limited to one ovary; capsule intact, no tumor on ovarian surface. No malignant cells in ascites or peritoneal washings. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C1336122|Stage IA includes: (T1a, N0, M0). T1a: Tumor limited to one ovary; capsule intact, no tumor on ovarian surface. No malignant cells in ascites or peritoneal washings. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th Eds.)|NCI|N|
C1336124|Stage IA includes: (T1a, N0, M0); (T1b, N0, M0). T1a: Lung cancer with a tumor size of 2 cm or less in greatest dimension, surrounded by lung or visceral pleura and without bronchoscopic evidence of invasion more proximal than the lobar bronchus (i.e., not in the main bronchus). The uncommon superficial tumor of any size with its invasive component limited to the bronchial wall, which may extend proximal to the main bronchus, is also classified as T1a. T1b: Lung cancer with a tumor size more than 2 cm but 3 cm or less in greatest dimension, surrounded by lung or visceral pleura and without bronchoscopic evidence of invasion more proximal than the lobar bronchus (i.e., not in the main bronchus). N0: No regional lymph metastasis. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C1336125|Stage IA includes: (T1a, N0, M0); (T1b, N0, M0). T1a: Lung cancer with a tumor size of 2 cm or less in greatest dimension, surrounded by lung or visceral pleura and without bronchoscopic evidence of invasion more proximal than the lobar bronchus (i.e., not in the main bronchus). The uncommon superficial tumor of any size with its invasive component limited to the bronchial wall, which may extend proximal to the main bronchus, is also classified as T1a. T1b: Lung cancer with a tumor size more than 2 cm but 3 cm or less in greatest dimension, surrounded by lung or visceral pleura and without bronchoscopic evidence of invasion more proximal than the lobar bronchus (i.e., not in the main bronchus). N0: No regional lymph metastasis. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C1336127|Stage IA includes: Tia, N0, M0. T1a: Tumor confined to the vulva or vulva and perineum, 2cm or less in greatest dimension, and with stromal invasion no greater than 1mm. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th ed.)|NCI|N|
C1336128|Stage IB1 includes: T1b1, N0, M0. T1b1: Clinically visible lesion 4.0 cm or less in greatest dimension. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C1336129|Stage IB2 includes: T1b2, N0, M0. T1b2: Clinically visible lesion more than 4.0 cm in greatest dimension. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C1336130|Stage IB includes: T2a, N0, M0. T2a: Lung cancer with a tumor size more than 3 cm but 5 cm or less in greatest dimension. N0: No regional lymph metastasis. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C1336131|Stage IB includes: (T2, N0, M0, G1, G2, GX); (T3, N0, M0, G1, G2, GX). T2: Tumor more than 8 cm in greatest dimension. T3: Discontinuous tumors in the primary bone site. N0: No regional lymph node metastasis. M0: No distant metastasis. G1: Well differentiated-low grade. G2: Moderately differentiated-low grade. GX: Grade cannot be assessed. (AJCC 7th ed.)|NCI|N|
C1336132|Stage IB includes: T1b, N0, M0. T1b: Tumor invades one-half or more of the myometrium. N0: No regional lymph node metastasis. M0: No distant metastasis. This staging applies to carcinomas and carcinosarcomas. (AJCC 7th ed.)|NCI|N|
C1336133|Stage IB includes: T1b, N0, M0. T1b: Tumor limited to both tubes, without penetrating the serosal surface; no ascites. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C1336134|Stage IB includes: (T2, N0, M0); (T1, N1, M0). T1: Tumor invades lamina propria, muscularis mucosae, or submucosa. T2: Tumor invades the muscularis propria. N0: No regional lymph node metastasis. N1: Metastasis in 1-2 regional lymph nodes. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C1336136|Stage IB includes: T2a, N0, M0. T2a: Lung cancer with a tumor size more than 3 cm but 5 cm or less in greatest dimension. N0: No regional lymph metastasis. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C1336137|Stage IB includes: T2a, N0, M0. T2a: Lung cancer with a tumor size more than 3 cm but 5 cm or less in greatest dimension. N0: No regional lymph metastasis. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C1336138|Stage IB includes: T2a, N0, M0. T2a: Lung cancer with a tumor size more than 3 cm but 5 cm or less in greatest dimension. N0: No regional lymph metastasis. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C1336139|Stage IB includes: T2a, N0, M0. T2a: Lung cancer with a tumor size more than 3 cm but 5 cm or less in greatest dimension. N0: No regional lymph metastasis. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C1336140|Stage IB includes: (T2, N0, M0, G1, G2, GX); (T3, N0, M0, G1, G2, GX). T2: Tumor more than 8 cm in greatest dimension. T3: Discontinuous tumors in the primary bone site. N0: No regional lymph node metastasis. M0: No distant metastasis. G1: Well differentiated-low grade. G2: Moderately differentiated-low grade. GX: Grade cannot be assessed. (AJCC 7th ed.)|NCI|N|
C1336142|Stage IB includes: (T1b, N0, M0). T1b: Tumor limited to both ovaries; capsules intact, no tumor on ovarian surface. No malignant cells in ascites or peritoneal washings. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th Eds.)|NCI|N|
C1336144|Stage IB includes: T2a, N0, M0. T2a: Lung cancer with a tumor size more than 3 cm but 5 cm or less in greatest dimension. N0: No regional lymph metastasis. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C1336145|Stage IB includes: T2a, N0, M0. T2a: Lung cancer with a tumor size more than 3 cm but 5 cm or less in greatest dimension. N0: No regional lymph metastasis. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C1336147|Stage IB includes: T1b, N0, M0. T1ab Tumor confined to the vulva or vulva and perineum, 2cm or less in greatest dimension, and with stromal invasion greater than 1mm. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th ed.)|NCI|N|
C1336149|Stage IC includes: T1c, N0, M0. T1c: Tumor limited to one or both tubes with extension onto or through the tubal serosa, or with malignant cells in ascites or peritoneal washings. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C1336151|Stage IC includes: (T1c, N0, M0). T1c: Tumor limited to one or both ovaries with any of the following: capsule ruptured, tumor on ovarian surface, malignant cells in ascites or peritoneal washings. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th Eds.)|NCI|N|
C1336153|Stage IIA includes: (T2b, N0, M0); (T1a, N1, M0); (T1b, N1, M0); (T2a, N1, M0). T2b: Lung cancer with a tumor size more than 5 cm but 7 cm or less in greatest dimension. T1a: Lung cancer with a tumor size of 2 cm or less in greatest dimension, surrounded by lung or visceral pleura and without bronchoscopic evidence of invasion more proximal than the lobar bronchus (i.e., not in the main bronchus). The uncommon superficial tumor of any size with its invasive component limited to the bronchial wall, which may extend proximal to the main bronchus, is also classified as T1a. T1b: Lung cancer with a tumor size more than 2 cm but 3 cm or less in greatest dimension, surrounded by lung or visceral pleura and without bronchoscopic evidence of invasion more proximal than the lobar bronchus (i.e., not in the main bronchus). T2a: Lung cancer with a tumor size more than 3 cm but 5 cm or less in greatest dimension. N0: No regional lymph node metastasis. N1: Lung cancer with metastasis in ipsilateral peribronchial and/or ipsilateral hilar lymph nodes and intrapulmonary lymph nodes, including involvement by direct extension. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C1336155|Stage IIA includes: T1, N0, M0, G3, G4. T1: Tumor 8 cm or less in greatest dimension. N0: No regional lymph node metastasis. M0: No distant metastasis. G3: Poorly differentiated. G4: Undifferentiated. (AJCC 7th ed.)|NCI|N|
C1336156|Stage IIA includes: (T0, N1, M0); (T1, N1, M0); (T2, N0, M0). T0: No evidence of primary tumor. T1: Tumor 20 mm or less in greatest dimension. T1 includes T1mi. T1mi: Tumor 1 mm or less in greatest dimension. T2: Tumor more than 20 mm but not more than 50 mm in greatest dimension. N1: Metastasis to movable ipsilateral level I, II axillary lymph node(s). N0: No regional lymph node metastasis. M0: No clinical or radiographic evidence of distant metastasis. M0 includes M0(i+). (AJCC 6th and 7th Eds.)|NCI|N|
C1336158|Stage IIA includes: T2, N0, M0, G3. T2: Tumor invades muscularis propria. N0: No regional lymph node metastasis. M0: No distant metastasis. G3: Poorly differentiated. (AJCC 7th ed.)|NCI|N|
C1336159|Stage IIA includes: For squamous cell carcinoma: (T2-3, N0, M0, G1, GX, Tumor location: Upper, middle); (T2-3, N0, M0, G2-3, Tumor location: Lower, X). For adenocarcinoma: (T2, N0, M0, G3). T2: Tumor invades muscularis propria. T3: Tumor invades adventitia. N0: No regional lymph node metastasis. M0: No distant metastasis. G1: Well differentiated. GX: Grade cannot be assessed-stage grouping as G1. G2: Moderately differentiated. G3: Poorly differentiated. Tumor location: Location of the primary cancer site is defined by the position of the upper (proximal) edge of the tumor in the esophagus. (AJCC 7th ed.)|NCI|N|
C1336160|Stage IIA includes: (T2-3, N0, M0, G1, GX, Tumor location: Upper, middle); (T2-3, N0, M0, G2-3, Tumor location: Lower, X). T2: Tumor invades muscularis propria. T3: Tumor invades adventitia. N0: No regional lymph node metastasis. M0: No distant metastasis. G1: Well differentiated. GX: Grade cannot be assessed-stage grouping as G1. G2: Moderately differentiated. G3: Poorly differentiated. Tumor location: Location of the primary cancer site is defined by the position of the upper (proximal) edge of the tumor in the esophagus. (AJCC 7th ed.)|NCI|N|
C1336161|Stage IIA includes: T2a, N0, M0. T2a: Extension and/or metastasis to the uterus and/or ovaries. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C1336162|Stage IIA includes: (T2b, N0, M0); (T1a, N1, M0); (T1b, N1, M0); (T2a, N1, M0). T2b: Lung cancer with a tumor size more than 5 cm but 7 cm or less in greatest dimension. T1a: Lung cancer with a tumor size of 2 cm or less in greatest dimension, surrounded by lung or visceral pleura and without bronchoscopic evidence of invasion more proximal than the lobar bronchus (i.e., not in the main bronchus). The uncommon superficial tumor of any size with its invasive component limited to the bronchial wall, which may extend proximal to the main bronchus, is also classified as T1a. T1b: Lung cancer with a tumor size more than 2 cm but 3 cm or less in greatest dimension, surrounded by lung or visceral pleura and without bronchoscopic evidence of invasion more proximal than the lobar bronchus (i.e., not in the main bronchus). T2a: Lung cancer with a tumor size more than 3 cm but 5 cm or less in greatest dimension. N0: No regional lymph node metastasis. N1: Lung cancer with metastasis in ipsilateral peribronchial and/or ipsilateral hilar lymph nodes and intrapulmonary lymph nodes, including involvement by direct extension. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C1336163|Stage IIA includes: (T2b, N0, M0); (T1a, N1, M0); (T1b, N1, M0); (T2a, N1, M0). T2b: Lung cancer with a tumor size more than 5 cm but 7 cm or less in greatest dimension. T1a: Lung cancer with a tumor size of 2 cm or less in greatest dimension, surrounded by lung or visceral pleura and without bronchoscopic evidence of invasion more proximal than the lobar bronchus (i.e., not in the main bronchus). The uncommon superficial tumor of any size with its invasive component limited to the bronchial wall, which may extend proximal to the main bronchus, is also classified as T1a. T1b: Lung cancer with a tumor size more than 2 cm but 3 cm or less in greatest dimension, surrounded by lung or visceral pleura and without bronchoscopic evidence of invasion more proximal than the lobar bronchus (i.e., not in the main bronchus). T2a: Lung cancer with a tumor size more than 3 cm but 5 cm or less in greatest dimension. N0: No regional lymph node metastasis. N1: Lung cancer with metastasis in ipsilateral peribronchial and/or ipsilateral hilar lymph nodes and intrapulmonary lymph nodes, including involvement by direct extension. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C1336164|Stage IIA includes: (T2b, N0, M0); (T1a, N1, M0); (T1b, N1, M0); (T2a, N1, M0). T2b: Lung cancer with a tumor size more than 5 cm but 7 cm or less in greatest dimension. T1a: Lung cancer with a tumor size of 2 cm or less in greatest dimension, surrounded by lung or visceral pleura and without bronchoscopic evidence of invasion more proximal than the lobar bronchus (i.e., not in the main bronchus). The uncommon superficial tumor of any size with its invasive component limited to the bronchial wall, which may extend proximal to the main bronchus, is also classified as T1a. T1b: Lung cancer with a tumor size more than 2 cm but 3 cm or less in greatest dimension, surrounded by lung or visceral pleura and without bronchoscopic evidence of invasion more proximal than the lobar bronchus (i.e., not in the main bronchus). T2a: Lung cancer with a tumor size more than 3 cm but 5 cm or less in greatest dimension. N0: No regional lymph node metastasis. N1: Lung cancer with metastasis in ipsilateral peribronchial and/or ipsilateral hilar lymph nodes and intrapulmonary lymph nodes, including involvement by direct extension. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C1336167|Stage IIA includes: (T2b, N0, M0); (T1a, N1, M0); (T1b, N1, M0); (T2a, N1, M0). T2b: Lung cancer with a tumor size more than 5 cm but 7 cm or less in greatest dimension. T1a: Lung cancer with a tumor size of 2 cm or less in greatest dimension, surrounded by lung or visceral pleura and without bronchoscopic evidence of invasion more proximal than the lobar bronchus (i.e., not in the main bronchus). The uncommon superficial tumor of any size with its invasive component limited to the bronchial wall, which may extend proximal to the main bronchus, is also classified as T1a. T1b: Lung cancer with a tumor size more than 2 cm but 3 cm or less in greatest dimension, surrounded by lung or visceral pleura and without bronchoscopic evidence of invasion more proximal than the lobar bronchus (i.e., not in the main bronchus). T2a: Lung cancer with a tumor size more than 3 cm but 5 cm or less in greatest dimension. N0: No regional lymph node metastasis. N1: Lung cancer with metastasis in ipsilateral peribronchial and/or ipsilateral hilar lymph nodes and intrapulmonary lymph nodes, including involvement by direct extension. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C1336168|Stage IIA includes: T1, N0, M0, G3, G4. T1: Tumor 8 cm or less in greatest dimension. N0: No regional lymph node metastasis. M0: No distant metastasis. G3: Poorly differentiated. G4: Undifferentiated. (AJCC 7th ed.)|NCI|N|
C1336170|Stage IIA includes: T2a, N0, M0. T2a: Extension and/or implants on uterus and/or tube(s). No malignant cells in ascites or peritoneal washings. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C1336172|Stage IIA includes: (T2b, N0, M0); (T1a, N1, M0); (T1b, N1, M0); (T2a, N1, M0). T2b: Lung cancer with a tumor size more than 5 cm but 7 cm or less in greatest dimension. T1a: Lung cancer with a tumor size of 2 cm or less in greatest dimension, surrounded by lung or visceral pleura and without bronchoscopic evidence of invasion more proximal than the lobar bronchus (i.e., not in the main bronchus). The uncommon superficial tumor of any size with its invasive component limited to the bronchial wall, which may extend proximal to the main bronchus, is also classified as T1a. T1b: Lung cancer with a tumor size more than 2 cm but 3 cm or less in greatest dimension, surrounded by lung or visceral pleura and without bronchoscopic evidence of invasion more proximal than the lobar bronchus (i.e., not in the main bronchus). T2a: Lung cancer with a tumor size more than 3 cm but 5 cm or less in greatest dimension. N0: No regional lymph node metastasis. N1: Lung cancer with metastasis in ipsilateral peribronchial and/or ipsilateral hilar lymph nodes and intrapulmonary lymph nodes, including involvement by direct extension. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C1336173|Stage IIA includes: (T2b, N0, M0); (T1a, N1, M0); (T1b, N1, M0); (T2a, N1, M0). T2b: Lung cancer with a tumor size more than 5 cm but 7 cm or less in greatest dimension. T1a: Lung cancer with a tumor size of 2 cm or less in greatest dimension, surrounded by lung or visceral pleura and without bronchoscopic evidence of invasion more proximal than the lobar bronchus (i.e., not in the main bronchus). The uncommon superficial tumor of any size with its invasive component limited to the bronchial wall, which may extend proximal to the main bronchus, is also classified as T1a. T1b: Lung cancer with a tumor size more than 2 cm but 3 cm or less in greatest dimension, surrounded by lung or visceral pleura and without bronchoscopic evidence of invasion more proximal than the lobar bronchus (i.e., not in the main bronchus). T2a: Lung cancer with a tumor size more than 3 cm but 5 cm or less in greatest dimension. N0: No regional lymph node metastasis. N1: Lung cancer with metastasis in ipsilateral peribronchial and/or ipsilateral hilar lymph nodes and intrapulmonary lymph nodes, including involvement by direct extension. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C1336175|Stage IIB includes: (T2b, N1, M0); (T3, N0, M0). T2b: Lung cancer with a tumor size more than 5 cm but 7 cm or less in greatest dimension. T3: Lung cancer with a tumor size more than 7 cm or one that directly invades any of the following: parietal pleural (PL3) chest wall (including superior sulcus tumors), diaphragm, phrenic nerve, mediastinal pleura, parietal pericardium; or tumor in the main bronchus (less than 2 cm distal to the carina but without involvement of the carina); or associated atelectasis or obstructive pneumonitis of the entire lung or separate tumor nodule(s) in the same lobe. N0: No regional lymph node metastasis. N1: Lung cancer with metastasis in ipsilateral peribronchial and/or ipsilateral hilar lymph nodes and intrapulmonary lymph nodes, including involvement by direct extension. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C1336177|Stage IIB includes: T2, N0, M0, G3, G4. T2: Tumor more than 8 cm in greatest dimension. N0: No regional lymph node metastasis. M0: No distant metastasis. G3: Poorly differentiated. G4: Undifferentiated. (AJCC 7th ed.)|NCI|N|
C1336178|Stage IIB includes: (T2, N1, M0); (T3, N0, M0). T2: Tumor more than 20 mm but not more than 50 mm in greatest dimension. T3: Tumor more than 50 mm in greatest dimension. N1: Metastasis to movable ipsilateral level I, II axillary lymph node(s). N0: No regional lymph node metastasis. M0: No clinical or radiographic evidence of distant metastasis. M0 includes M0(i+). (AJCC 6th and 7th Eds.)|NCI|N|
C1336180|Stage IIB includes: (T3, N0, M0, Any G); (T1-2, N1, M0, Any G). T3: Tumor invades adventitia. T1: Tumor invades lamina propria, muscularis mucosae, or submucosa. T2: Tumor invades muscularis propria. N0: No regional lymph node metastasis. N1: Metastasis in 1-2 regional lymph nodes. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C1336181|Stage IIB includes: For squamous cell carcinoma: (T2-3, N0, M0, G2-3, Tumor location: Upper, middle); (T1-2, N1, M0, Any G, Tumor location: Any). For adenocarcinoma: (T3, N0, M0, Any G); (T1-2, N1, M0, Any G). T2: Tumor invades muscularis propria. T3: Tumor invades adventitia. T1: Tumor invades lamina propria, muscularis mucosae, or submucosa. N0: No regional lymph node metastasis. N1: Metastasis in 1-2 regional lymph nodes. M0: No distant metastasis. G1: Well differentiated. GX: Grade cannot be assessed-stage grouping as G1. G2: Moderately differentiated. G3: Poorly differentiated. Tumor location: Location of the primary cancer site is defined by the position of the upper (proximal) edge of the tumor in the esophagus. (AJCC 7th ed.)|NCI|N|
C1336182|Stage IIB includes: (T2-3, N0, M0, G2-3, Tumor location: Upper, middle); (T1-2, N1, M0, Any G, Tumor location: Any). T2: Tumor invades muscularis propria. T3: Tumor invades adventitia. T1: Tumor invades lamina propria, muscularis mucosae, or submucosa. N0: No regional lymph node metastasis. N1: Metastasis in 1-2 regional lymph nodes. M0: No distant metastasis. G2: Moderately differentiated. G3: Poorly differentiated. Tumor location: Location of the primary cancer site is defined by the position of the upper (proximal) edge of the tumor in the esophagus. (AJCC 7th ed.)|NCI|N|
C1336183|Stage IIB includes: T2b, N0, M0. T2b: Extension to other pelvic structures. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C1336184|Stage IIB includes: (T2b, N1, M0); (T3, N0, M0). T2b: Lung cancer with a tumor size more than 5 cm but 7 cm or less in greatest dimension. T3: Lung cancer with a tumor size more than 7 cm or one that directly invades any of the following: parietal pleural (PL3) chest wall (including superior sulcus tumors), diaphragm, phrenic nerve, mediastinal pleura, parietal pericardium; or tumor in the main bronchus (less than 2 cm distal to the carina but without involvement of the carina); or associated atelectasis or obstructive pneumonitis of the entire lung or separate tumor nodule(s) in the same lobe. N0: No regional lymph node metastasis. N1: Lung cancer with metastasis in ipsilateral peribronchial and/or ipsilateral hilar lymph nodes and intrapulmonary lymph nodes, including involvement by direct extension. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C1336185|Stage IIB includes: (T2b, N1, M0); (T3, N0, M0). T2b: Lung cancer with a tumor size more than 5 cm but 7 cm or less in greatest dimension. T3: Lung cancer with a tumor size more than 7 cm or one that directly invades any of the following: parietal pleural (PL3) chest wall (including superior sulcus tumors), diaphragm, phrenic nerve, mediastinal pleura, parietal pericardium; or tumor in the main bronchus (less than 2 cm distal to the carina but without involvement of the carina); or associated atelectasis or obstructive pneumonitis of the entire lung or separate tumor nodule(s) in the same lobe. N0: No regional lymph node metastasis. N1: Lung cancer with metastasis in ipsilateral peribronchial and/or ipsilateral hilar lymph nodes and intrapulmonary lymph nodes, including involvement by direct extension. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C1336186|Stage IIB includes: (T2b, N1, M0); (T3, N0, M0). T2b: Lung cancer with a tumor size more than 5 cm but 7 cm or less in greatest dimension. T3: Lung cancer with a tumor size more than 7 cm or one that directly invades any of the following: parietal pleural (PL3) chest wall (including superior sulcus tumors), diaphragm, phrenic nerve, mediastinal pleura, parietal pericardium; or tumor in the main bronchus (less than 2 cm distal to the carina but without involvement of the carina); or associated atelectasis or obstructive pneumonitis of the entire lung or separate tumor nodule(s) in the same lobe. N0: No regional lymph node metastasis. N1: Lung cancer with metastasis in ipsilateral peribronchial and/or ipsilateral hilar lymph nodes and intrapulmonary lymph nodes, including involvement by direct extension. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C1336187|Stage IIB includes: (T3b, N0, M0); (T4a, N0, M0). T3b: Cutaneous melanoma with a tumor measuring 2.01-4.0 mm in thickness, with ulceration. T4a: Cutaneous melanoma with a tumor measuring more than 4.0 mm in thickness, without ulceration. N0: No regional lymph node metastases. M0: No detectable evidence of distant metastases. (from AJCC 6th and 7th Eds.)|NCI|N|
C1336190|Stage IIB includes: (T2b, N1, M0); (T3, N0, M0). T2b: Lung cancer with a tumor size more than 5 cm but 7 cm or less in greatest dimension. T3: Lung cancer with a tumor size more than 7 cm or one that directly invades any of the following: parietal pleural (PL3) chest wall (including superior sulcus tumors), diaphragm, phrenic nerve, mediastinal pleura, parietal pericardium; or tumor in the main bronchus (less than 2 cm distal to the carina but without involvement of the carina); or associated atelectasis or obstructive pneumonitis of the entire lung or separate tumor nodule(s) in the same lobe. N0: No regional lymph node metastasis. N1: Lung cancer with metastasis in ipsilateral peribronchial and/or ipsilateral hilar lymph nodes and intrapulmonary lymph nodes, including involvement by direct extension. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C1336191|Stage IIB includes: T2, N0, M0, G3, G4. T2: Tumor more than 8 cm in greatest dimension. N0: No regional lymph node metastasis. M0: No distant metastasis. G3: Poorly differentiated. G4: Undifferentiated. (AJCC 7th ed.)|NCI|N|
C1336193|Stage IIB includes: T2b N0, M0. T2b: Extension and/or implants on other pelvic tissues. No malignant cells in ascites or peritoneal washings. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C1336195|Stage IIB includes: (T2b, N1, M0); (T3, N0, M0). T2b: Lung cancer with a tumor size more than 5 cm but 7 cm or less in greatest dimension. T3: Lung cancer with a tumor size more than 7 cm or one that directly invades any of the following: parietal pleural (PL3) chest wall (including superior sulcus tumors), diaphragm, phrenic nerve, mediastinal pleura, parietal pericardium; or tumor in the main bronchus (less than 2 cm distal to the carina but without involvement of the carina); or associated atelectasis or obstructive pneumonitis of the entire lung or separate tumor nodule(s) in the same lobe. N0: No regional lymph node metastasis. N1: Lung cancer with metastasis in ipsilateral peribronchial and/or ipsilateral hilar lymph nodes and intrapulmonary lymph nodes, including involvement by direct extension. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C1336196|Stage IIB includes: (T2b, N1, M0); (T3, N0, M0). T2b: Lung cancer with a tumor size more than 5 cm but 7 cm or less in greatest dimension. T3: Lung cancer with a tumor size more than 7 cm or one that directly invades any of the following: parietal pleural (PL3) chest wall (including superior sulcus tumors), diaphragm, phrenic nerve, mediastinal pleura, parietal pericardium; or tumor in the main bronchus (less than 2 cm distal to the carina but without involvement of the carina); or associated atelectasis or obstructive pneumonitis of the entire lung or separate tumor nodule(s) in the same lobe. N0: No regional lymph node metastasis. N1: Lung cancer with metastasis in ipsilateral peribronchial and/or ipsilateral hilar lymph nodes and intrapulmonary lymph nodes, including involvement by direct extension. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C1336198|Stage IIC includes: T2c, N0, M0. T2c: Pelvic extension with malignant cells in ascites or peritoneal washings. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C1336199|Stage IIC includes: T2c, N0, M0. T2c: Pelvic extension and/or implants (T2a or T2b) with malignant cells in ascites or peritoneal washing. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C1336200|Stage IIC includes: T2c, N0, M0. T2c: Pelvic extension and/or implants (T2a or T2b) with malignant cells in ascites or peritoneal washing. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C1336202|Stage IIC includes: (Any pT/TX, N3, M0, S0); (Any pT/TX, N3, M0, S1). pTX: Primary tumor cannot be assessed. N3: Metastasis with a lymph node mass more than 5 cm in greatest dimension. M0: No distant metastasis. S0: Marker study levels within normal limits. S1: LDH less than 1.5 x N (N indicates the upper limit of normal for the LDH assay) and hCG less than 5,000 and AFP less than 1,000. (AJCC 6th and 7th eds.)|NCI|N|
C1336204|Stage IIIA includes: T3a, N0, M0. T3a: Tumor involves lower third of vagina, no extension to pelvic wall. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C1336205|Stage IIIA includes: T3a, N0, M0. T3a: Tumor involves serosa and/or adnexa (direct extension or metastasis). N0: No regional lymph node metastasis. M0: No distant metastasis. This staging applies to carcinomas and carcinosarcomas. (AJCC 7th ed.)|NCI|N|
C1336206|Stage IIIA includes: T3a, N0, M0. T3a: Microscopic peritoneal metastasis outside the pelvis. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C1336207|Stage IIIA includes: (T4a, N1, M0); (T3, N2, M0); (T2, N3, M0). T2: Tumor invades the muscularis propria. T3: Tumor penetrates subserosal connective tissue without invasion of visceral peritoneum or adjacent structures. T4a: Tumor invades serosa (visceral peritoneum). N1: Metastasis in 1-2 regional lymph nodes. N2: Metastasis in 3-6 regional lymph nodes. N3: Metastasis in seven or more regional lymph nodes. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C1336208|Stage IIIA includes: T3a, N0, M0. T3a: Multiple tumors more than 5 cm. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C1336209|Stage IIIA includes: (T1a, N2, M0); (T1b, N2, M0); (T2a, N2, M0); (T2b, N2, M0); (T3, N1, M0); (T3, N2, M0); (T4, N0, M0); (T4, N1, M0). T4: Lung cancer with a tumor of any size that invades any of the following: mediastinum, heart, great vessels, trachea, recurrent laryngeal nerve, esophagus, vertebral body, carina, and separate tumor nodule(s) in a different ipsilateral lobe. N1: Lung cancer with metastasis in ipsilateral peribronchial and/or ipsilateral hilar lymph nodes and intrapulmonary lymph nodes, including involvement by direct extension. N2: Lung cancer with metastasis to ipsilateral mediastinal and/or subcarinal lymph nodes. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C1336211|Stage IIIA includes: (T1a, N2, M0); (T1b, N2, M0); (T2a, N2, M0); (T2b, N2, M0); (T3, N1, M0); (T3, N2, M0); (T4, N0, M0); (T4, N1, M0). T4: Lung cancer with a tumor of any size that invades any of the following: mediastinum, heart, great vessels, trachea, recurrent laryngeal nerve, esophagus, vertebral body, carina, and separate tumor nodule(s) in a different ipsilateral lobe. N1: Lung cancer with metastasis in ipsilateral peribronchial and/or ipsilateral hilar lymph nodes and intrapulmonary lymph nodes, including involvement by direct extension. N2: Lung cancer with metastasis to ipsilateral mediastinal and/or subcarinal lymph nodes. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C1336212|Ovarian cancer with positive retroperitoneal lymph nodes and/or microscopic metastasis beyond the pelvis. (FIGO, 2014)|NCI|N|
C1336213|Stage IIIA includes: T3a, N0, M0. T3a: Microscopic peritoneal metastasis beyond pelvis (no macroscopic tumor). N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C1336215|Stage IIIA includes: (T1a, N2, M0); (T1b, N2, M0); (T2a, N2, M0); (T2b, N2, M0); (T3, N1, M0); (T3, N2, M0); (T4, N0, M0); (T4, N1, M0). T4: Lung cancer with a tumor of any size that invades any of the following: mediastinum, heart, great vessels, trachea, recurrent laryngeal nerve, esophagus, vertebral body, carina, and separate tumor nodule(s) in a different ipsilateral lobe. N1: Lung cancer with metastasis in ipsilateral peribronchial and/or ipsilateral hilar lymph nodes and intrapulmonary lymph nodes, including involvement by direct extension. N2: Lung cancer with metastasis to ipsilateral mediastinal and/or subcarinal lymph nodes. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C1336216|Stage IIIA includes: (T1a, N2, M0); (T1b, N2, M0); (T2a, N2, M0); (T2b, N2, M0); (T3, N1, M0); (T3, N2, M0); (T4, N0, M0); (T4, N1, M0). T4: Lung cancer with a tumor of any size that invades any of the following: mediastinum, heart, great vessels, trachea, recurrent laryngeal nerve, esophagus, vertebral body, carina, and separate tumor nodule(s) in a different ipsilateral lobe. N1: Lung cancer with metastasis in ipsilateral peribronchial and/or ipsilateral hilar lymph nodes and intrapulmonary lymph nodes, including involvement by direct extension. N2: Lung cancer with metastasis to ipsilateral mediastinal and/or subcarinal lymph nodes. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C1336219|Stage IIIB includes: (T3b, Any N, M0); (T1-3, N1, M0). T3: Tumor extends to pelvic wall and/or involves lower third of vagina, and/or causes hydronephrosis or non-functioning kidney. T3b: Tumor extends to pelvic wall and/or causes hydronephrosis or non-functioning kidney. N1: Regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C1336220|Stage IIIB includes: T3b, N0, M0. T3b: Tumor involves vagina (direct extension or metastasis) or parametrial tissue. N0: No regional lymph node metastasis. M0: No distant metastasis. This staging applies to carcinomas and carcinosarcomas. (AJCC 7th ed.)|NCI|N|
C1336221|Stage IIIB includes: T3b, N0, M0. T3b: Macroscopic peritoneal metastasis outside the pelvis 2 cm or less in greatest dimension. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C1336222|Stage IIIB includes: (T4b, N0, M0); (T4b, N1, M0); (T4a, N2, M0); (T3, N3, M0). T3: Tumor penetrates subserosal connective tissue without invasion of visceral peritoneum or adjacent structures. T4a: Tumor invades serosa (visceral peritoneum). T4b: Tumor invades adjacent structures. N0: No regional lymph node metastasis. N1: Metastasis in 1-2 regional lymph nodes. N2: Metastasis in 3-6 regional lymph nodes. N3: Metastasis in seven or more regional lymph nodes. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C1336223|Stage IIIB includes: T3b, N0, M0. T3b: Single tumor or multiple tumors of any size involving a major branch of the portal vein or hepatic vein. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C1336224|Stage IIIB includes: (T1a, N3, M0); (T1b, N3, M0); (T2a, N3, M0); (T2b, N3, M0); (T3, N3, M0); (T4, N2, M0); (T4, N3, M0). T4: Lung cancer with a tumor of any size that invades any of the following: mediastinum, heart, great vessels, trachea, recurrent laryngeal nerve, esophagus, vertebral body, carina, and separate tumor nodule(s) in a different ipsilateral lobe. N2: Lung cancer with metastasis to ipsilateral mediastinal and/or subcarinal lymph nodes. N3: Lung cancer with metastasis to contralateral mediastinal, contralateral hilar, ipsilateral or contralateral scalene, or supraclavicular lymph nodes. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C1336226|Stage IIIB includes: (T1a, N3, M0); (T1b, N3, M0); (T2a, N3, M0); (T2b, N3, M0); (T3, N3, M0); (T4, N2, M0); (T4, N3, M0). T4: Lung cancer with a tumor of any size that invades any of the following: mediastinum, heart, great vessels, trachea, recurrent laryngeal nerve, esophagus, vertebral body, carina, and separate tumor nodule(s) in a different ipsilateral lobe. N2: Lung cancer with metastasis to ipsilateral mediastinal and/or subcarinal lymph nodes. N3: Lung cancer with metastasis to contralateral mediastinal, contralateral hilar, ipsilateral or contralateral scalene, or supraclavicular lymph nodes. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C1336228|Stage IIIB includes: T3b, N0, M0. T3b: Macroscopic peritoneal metastasis beyond pelvis 2 cm or less in greatest dimension. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C1336230|Stage IIIB includes: (T1a, N3, M0); (T1b, N3, M0); (T2a, N3, M0); (T2b, N3, M0); (T3, N3, M0); (T4, N2, M0); (T4, N3, M0). T4: Lung cancer with a tumor of any size that invades any of the following: mediastinum, heart, great vessels, trachea, recurrent laryngeal nerve, esophagus, vertebral body, carina, and separate tumor nodule(s) in a different ipsilateral lobe. N2: Lung cancer with metastasis to ipsilateral mediastinal and/or subcarinal lymph nodes. N3: Lung cancer with metastasis to contralateral mediastinal, contralateral hilar, ipsilateral or contralateral scalene, or supraclavicular lymph nodes. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C1336231|Stage IIIB small cell lung carcinoma that has spread to the pleural fluid.|NCI|N|
C1336232|Stage IIIB small cell lung carcinoma that has not spread to the pleural fluid.|NCI|N|
C1336233|Stage IIIB includes: (T1a, N3, M0); (T1b, N3, M0); (T2a, N3, M0); (T2b, N3, M0); (T3, N3, M0); (T4, N2, M0); (T4, N3, M0). T4: Lung cancer with a tumor of any size that invades any of the following: mediastinum, heart, great vessels, trachea, recurrent laryngeal nerve, esophagus, vertebral body, carina, and separate tumor nodule(s) in a different ipsilateral lobe. N2: Lung cancer with metastasis to ipsilateral mediastinal and/or subcarinal lymph nodes. N3: Lung cancer with metastasis to contralateral mediastinal, contralateral hilar, ipsilateral or contralateral scalene, or supraclavicular lymph nodes. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C1336235|Stage IIIC includes: IIIC1 (T1-T3, N1, M0); IIIC2 (T1-T3, N2, M0). T1: Tumor confined to corpus uteri. T2: Tumor invades stromal connective tissue of the cervix but does not extend beyond uterus. Endocervical glandular involvement only should be considered as Stage I and not as Stage II. T3: Tumor involves serosa and/or adnexa, vagina, or parametrial tissue. N1: Regional lymph node metastasis to pelvic lymph nodes. N2: Regional lymph node metastasis to para-aortic lymph nodes, with or without positive pelvic lymph nodes. M0: No distant metastasis. This staging applies to carcinomas and carcinosarcomas. (AJCC 7th ed.)|NCI|N|
C1336236|Stage IIIC includes: (T3c, N0, M0); (Any T, N1, M0). T3c: Peritoneal metastasis outside the pelvis and more than 2 cm in diameter. N0: No regional lymph node metastasis. N1: Regional lymph node metastasis. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C1336237|Stage IIIC includes: (T3c, N0, M0); (Any T, N1, M0). T3c: Peritoneal metastasis beyond pelvis more than 2cm in greatest dimension and/or regional lymph node metastasis. N0: No regional lymph node metastasis. N1: Regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C1336238|Stage IIIC includes: (T3c, N0, M0); (Any T, N1, M0). T3c: Peritoneal metastasis beyond pelvis more than 2cm in greatest dimension and/or regional lymph node metastasis. N0: No regional lymph node metastasis. N1: Regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C1336240|Stage III includes: IIIA (T1, N1, M0); (T2, N1, M0); (T3, N1, M0); (T4, N0, M0); IIIB (T4, N1, M0); (Any T, N2, M0); (Any T, N3, M0). T1: Tumor 2 cm or less in greatest dimension. T2: tumor more than 2 cm but not more than 5 cm in greatest dimension. T3: Tumor more than 5 cm in greatest dimension. T4: Tumor of any size that invades adjacent organ(s). N1: Metastasis in perirectal lymph node(s). N0: No regional lymph node metastasis. N2: Metastasis in unilateral internal iliac and/or inguinal lymph node(s). N3: Metastasis in perirectal and inguinal lymph nodes and/or bilateral internal iliac and/or inguinal lymph nodes. M0: No distant metastasis. (AJCC 6th and 7th Eds.)|NCI|N|
C1336242|Stage III includes: T4, Any N, M0. T4: Tumor invades peripancreatic soft tissues or other adjacent organs or structures other than the pancreas. M0: No distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C1336243|Stage III includes: T3, N0, M0, G3, G4. T3: Tumor more than 8 cm in greatest dimension. N0: No regional lymph node metastasis. M0: No distant metastasis. G3: Poorly differentiated. G4: Undifferentiated. (AJCC 7th ed.)|NCI|N|
C1336247|Ann Arbor Classification: Stage III: Involvement of lymph node regions on both sides of the diaphragm (III), which also may be accompanied by extralymphatic extension in association with adjacent lymph node involvement (IIIE) or by involvement of the spleen (IIIS) or both (IIIE,S).|NCI|N|
C1336248|Stage III includes: IIIA: (T3, N0, M0); IIIB: (T4, N0, M0); IIIC: (Any T, Any N, M0). IIIA: T3: Multiple tumors more than 5 cm or tumor involving a major branch of the portal or hepatic vein(s). T4: Tumors(s) with direct invasion of adjacent organs other than the gallbladder or with perforation of visceral peritoneum. N0: No regional lymph node metastasis. N1: Regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th ed.)|NCI|N|
C1336249|Stage III includes: (T3, N0, M0); (T1, N1, M0); (T2, N1, M0); (T3, N1, M0). T3: Tumor more than 4 cm in greatest dimension or with fixation of hemilarynx. N1: Metastasis in a single ipsilateral lymph node, 3 cm or less in greatest dimension. N2: Metastasis in a single ipsilateral lymph node, more than 3 cm but not more than 6cm in greatest dimension, or in bilateral or contralateral lymph nodes, none more than 6 cm in greatest dimension. M0: No distant metastasis. (AJCC 6th ed.)|NCI|N|
C1336250|Stage III includes: Any pT/TX, Any N, M1, SX. M1: Distant metastasis. SX: Marker studies not available or not performed. (AJCC 6th and 7th eds.)|NCI|N|
C1336253|Stage III includes: (T3, N0, M0); (T1, N1, M0); (T2, N1, M0); (T3, N1, M0). T3: Tumor more than 4 cm in greatest dimension. N1: Metastasis in a single ipsilateral lymph node, 3 cm or less in greatest dimension. M0: No distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C1336254|Stage III carcinoma of the liver according to the American Joint Committee on Cancer, 6th, 7th, and 8th editions.|NCI|N|
C1336255|Ann Arbor Classification: Stage III: Involvement of lymph node regions on both sides of the diaphragm (III), which also may be accompanied by extralymphatic extension in association with adjacent lymph node involvement (IIIE) or by involvement of the spleen (IIIS) or both (IIIE,S).|NCI|N|
C1336256|Stage III includes: (T3, N0, M0); (T1, N1, M0); (T2, N1, M0); (T3, N1, M0). T3: Tumor invading the medial wall or floor of the orbit, maxillary sinus, palate, or cribriform plate. T1: Tumor restricted to any one subsite, with or without bony invasion. T2: Tumor invading two subsites in a single region or extending to involve an adjacent region within the nasoethmoidal complex, with or without bony invasion. N0: No regional lymph node metastasis. N1: Metastasis in a single ipsilateral lymph node, 3 cm or less in greatest dimension. M0: No distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C1336257|Unresectable unilateral tumor infiltrating across the midline, with or without regional lymph node involvement; or localized unilateral tumor with contralateral regional lymph node involvement; or midline tumor with bilateral extension by infiltration (unresectable) or by lymph node involvement. The midline is defined as the vertebral column. Tumors originating on one side and crossing the midline must infiltrate to or beyond the opposite side of the vertebral column. (cancer.gov)|NCI|N|
C1336258|Ann Arbor Classification: Stage III: Involvement of lymph node regions on both sides of the diaphragm (III), which also may be accompanied by extralymphatic extension in association with adjacent lymph node involvement (IIIE) or by involvement of the spleen (IIIS) or both (IIIE,S).|NCI|N|
C1336259|Stage III includes: (T3, N0, M0); (T1, N1, M0); (T2, N1, M0); (T3, N1, M0). T3: Tumor more than 4 cm in greatest dimension. N1: Metastasis in a single ipsilateral lymph node, 3 cm or less in greatest dimension. M0: No distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C1336260|Stage III includes: T3, N0, M0, G3, G4. T3: Tumor more than 8 cm in greatest dimension. N0: No regional lymph node metastasis. M0: No distant metastasis. G3: Poorly differentiated. G4: Undifferentiated. (AJCC 7th ed.)|NCI|N|
C1336261|Stage III includes: T3, N0, M0. T3: Tumor involves one or both both ovaries with microscopically confirmed peritoneal metastasis outside pelvis. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C1336262|Stage III includes: T3, N0, M0. T3: Tumor involves one or both both ovaries with microscopically confirmed peritoneal metastasis outside pelvis. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C1336263|Stage III includes: T3, N0, M0. T3: Tumor involves one or both both ovaries with microscopically confirmed peritoneal metastasis outside pelvis. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C1336264|Stage III includes: (T3, N0, M0); (T1, N1, M0); (T2, N1, M0); (T3, N1, M0). T3: Maxillary sinus: Tumor invading any of the following: bone of the posterior wall of maxillary sinus, subcutaneous tissues, floor or medial wall of orbit, pterygoid fossa, or ethmoid sinuses. Ethmoid sinus: Tumor invading the medial wall or floor of the orbit, maxillary sinus, palate, or cribriform plate. T1: Maxillary sinus: Tumor limited to the maxillary sinus mucosa with no erosion or destruction of bone. Ethmoid sinus: Tumor restricted to any one subsite, with or without bony invasion. T2: Maxillary sinus: Tumor causing bone erosion or destruction including extension into the hard palate and/or middle nasal meatus, except extension to posterior wall of maxillary sinus and pterygoid plates. Ethmoid sinus: Tumor invading two subsites in a single region or extending to involve an adjacent region within the nasoethmoidal complex, with or without bony invasion. N0: No regional lymph node metastasis. N1: Metastasis in a single ipsilateral lymph node, 3 cm or less in greatest dimension. M0: No distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C1336265|Stage III includes: (T1, T2, N1, M0); (T1, T2, N2, M0); (T3, N0, N1, N2, M0). T1: Pleural mesothelioma with a tumor limited to the ipsilateral parietal pleura with or without mediastinal pleura and with or without diaphragmatic pleural involvement. T2: Pleural mesothelioma with a tumor involving each of the ipsilateral pleural surfaces (parietal, mediastinal, diaphragmatic, and visceral pleura) with at least one of the following: involvement of diaphragmatic muscle; extension of tumor from visceral pleura into the underlying pulmonary parenchyma. T3: Pleural mesothelioma with a locally advanced but potentially respectable tumor. Tumor involving all the ipsilateral pleural surfaces (parietal, mediastinal, diaphragmatic, and visceral pleura) with at least one of the following: involvement of the endothoracic fascia; extension into the mediastinal fat; solitary, completely respectable focus of tumor extending into the soft tissues of the chest wall; nontransmural involvement of the pericardium. N0: No regional lymph node metastasis. N1: Pleural mesothelioma with metastases in the ipsilateral bronchopulmonary or hilar lymph nodes. N2: Pleural mesothelioma with metastases in the subcarinal or the ipsilateral mediastinal lymph nodes including the ipsilateral internal mammary and peridiaphragmatic nodes. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C1336266|Stage III includes: T3, N0, M0. T3: Tumor invades beyond muscularis into peripelvic fat or the renal parenchyma. N0: No lymph node metastasis. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C1336267|Stage III includes: T3, N0, M0. T3: For renal pelvis only: tumor invades beyond muscularis into peripelvic fat or the renal parenchyma. For ureter only: tumor invades beyond muscularis into periureteric fat. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C1336270|Stage III includes: (T3, N0, M0); (T1, N1, M0); (T2, N1, M0); (T3, N1, M0). T3: Tumor with invasion of maxilla, mandible, orbit, or temporal bone. T1: Tumor 2 cm or less in greatest dimension with less than two high-risk features. T2: Tumor size greater than 2 cm in greatest dimension or tumor of any size with two or more high-risk features. N0: No regional lymph node metastasis. N1: Metastasis in a single ipsilateral lymph node, 3 cm or less in greatest dimension. M0: No clinical or radiographic evidence of distant metastasis. (AJCC 7th Ed.)|NCI|N|
C1336271|Stage III includes: IIIA (T1a, N2, M0); (T1b, N2, M0); (T2a, N2, M0); (T2b, N2, M0); (T3, N1, M0); (T3, N2, M0); (T4, N0, M0); (T4, N1, M0) and IIIB (T1a, N3, M0); (T1b, N3, M0); (T2a, N3, M0); (T2b, N3, M0); (T3, N3, M0); (T4, N2, M0); (T4, N3, M0). T4: Lung cancer with a tumor of any size that invades any of the following: mediastinum, heart, great vessels, trachea, recurrent laryngeal nerve, esophagus, vertebral body, carina, and separate tumor nodule(s) in a different ipsilateral lobe. N1: Lung cancer with metastasis in ipsilateral peribronchial and/or ipsilateral hilar lymph nodes and intrapulmonary lymph nodes, including involvement by direct extension. N2: Lung cancer with metastasis to ipsilateral mediastinal and/or subcarinal lymph nodes. N3: Lung cancer with metastasis to contralateral mediastinal, contralateral hilar, ipsilateral or contralateral scalene, or supraclavicular lymph nodes. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C1336272|Stage III includes: Any pT/TX, Any N, M1, SX. M1: Distant metastasis. SX: Marker studies not available or not performed. (AJCC 6th and 7th eds.)|NCI|N|
C1336273|Stage III includes: Any pT/TX, Any N, M1, SX. M1: Distant metastasis. SX: Marker studies not available or not performed. (AJCC 6th and 7th eds.)|NCI|N|
C1336274|Stage III includes: (T1, N1a, M0); (T2, N1a, M0); (T3, N1a, M0). T1: Tumor size 2 cm or less in greatest dimension, limited to the thyroid gland. T2: Tumor more than 2 cm but not more than 4 cm in greatest dimension, limited to the thyroid gland. T3: Tumor more than 4 cm in greatest dimension and limited to the thyroid gland, or tumor of any size with minimal extrathyroid extension (e.g., extension to sternothyroid muscle or perithyroid soft tissues). N1a: Metastasis to pretracheal, paratracheal or prelaryngeal/Delphian lymph nodes (Level VI lymph nodes). M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C1336275|Stage III includes: (T3, N0, M0); (T1, N1a, M0); (T2, N1a, M0); (T3, N1a, M0). T3: Tumor greater than 4 cm in greatest dimension and limited to the thyroid gland, or tumor of any size with minimal extrathyroid extension (e.g., extension to sternothyroid muscle or perithyroid soft tissues). T1: Tumor size 2 cm or less in greatest dimension, limited to the thyroid gland. T2: Tumor more than 2 cm but not more than 4 cm in greatest dimension, limited to the thyroid gland. N0: No regional lymph node metastasis. N1a: Metastasis to pretracheal, paratracheal or prelaryngeal/Delphian lymph nodes (Level VI lymph nodes). M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C1336276|Stage III includes: T3, N0, M0. T3: Tumor invades beyond muscularis into periureteric fat. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C1336277|Stage III includes: (T1, N1, M0); (T2, N1, M0); (T3, N0, M0), (T3, N1, M0). T1: Tumor invades subepithelial connective tissue. T2: Tumor invades any of the following: corpus spongiosum, prostate, periurethral muscle. T3: Tumor invades any of the following: corpus cavernosum, beyond prostatic capsule, anterior vagina, bladder neck. N1: Metastasis in a single lymph node 2 cm or less in greatest dimension. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C1336278|Stage III includes: IIIA (T2c-d, N0, M0); (T3b-c, N0, M0); (T4a, N0, M0); IIIB (T3d, N0, M0); (T4b-c, N0, M0); IIIC (T4d-e, N0, M0). T2c: Ciliary body and choroid: Tumor size category 2 without ciliary body involvement but with extraocular extension less than or equal to 5 mm in diameter. T2d: Ciliary body and choroid: Tumor size category 2 with ciliary body involvement and extraocular extension less than or equal to 5 mm in diameter. T3b: Ciliary body and choroid: Tumor size category 3 with ciliary body involvement. T3c: Ciliary body and choroid: Tumor size category 3 without ciliary body involvement but with extraocular extension less than or equal to 5 mm in diameter. T4a: Iris: Tumor with extrascleral extension less than or equal to 5 mm in diameter. Ciliary body and choroid: Tumor size category 4 without ciliary body involvement and extraocular extension. T3d: Ciliary body and choroid: Tumor size category 3 with ciliary body involvement and extraocular extension less than or equal to 5 mm in diameter. T4b: Iris: Tumor with extrascleral extension more than 5 mm in diameter. Ciliary body and choroid: Tumor size category 4 with ciliary body involvement. T4c: Ciliary body and choroid: Tumor size category 4 without ciliary body involvement but with extraocular extension less than or equal to 5 mm in diameter. T4d: Ciliary body and choroid: Tumor size category 4 with ciliary body involvement and extraocular extension less than or equal to 5 mm in diameter. T4e: Ciliary body and choroid: Any tumor size category with extraocular extension more than 5 mm in diameter. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C1336279|Stage II includes: (T2, N0, M0); (T3,N0, M0). T2: Tumor more than 2 cm but not more than 5 cm in greatest dimension. T3: Tumor more than 5 cm in greatest dimension. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th Eds.)|NCI|N|
C1336281|Stage II includes: IIA (T3, N0, M0); IIB (T1, N1, M0); (T2, N1, M0); (T3, N1, M0). T3: Tumor invades the pancreas. T1: Tumor limited to ampulla of Vater or sphincter of Oddi. T2: Tumor invades the duodenal wall. N0: No regional lymph node metastasis. N1: Regional lymph node metastasis. M0: No distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C1336282|Stage II includes: IIA (T1, N0, M0, G3, G4); IIB (T2, N0, M0, G3, G4). T1: Tumor 8 cm or less in greatest dimension. T2: Tumor more than 8 cm in greatest dimension. N0: No regional lymph node metastasis. M0: No distant metastasis. G3: Poorly differentiated. G4: Undifferentiated. (AJCC 7th ed.)|NCI|N|
C1336286|Ann Arbor Classification: Stage II: Involvement of two or more lymph node regions on the same side of the diaphragm (II); or localized involvement of a single extralymphatic organ or site in association with regional lymph node involvement with or without involvement of other lymph node regions on the same side of the diaphragm (IIE).|NCI|N|
C1336292|Stage II includes: Any pT/TX, N1-3, M0, SX. pTX: Primary tumor cannot be assessed. N1: Metastasis with a lymph node mass 2 cm or less in greatest dimension; or multiple lymph nodes, none more than 2cm in greatest dimension. N2: Metastasis with a lymph node mass more than 2 cm but not more than 5 cm in greatest dimension; or multiple lymph nodes, any one mass greater than 2 cm but not more than 5 cm in greatest dimension. N3: Metastasis with a lymph node mass more than 5 cm in greatest dimension. M0: No distant metastasis. SX: Marker studies not available or not performed. (AJCC 6th and 7th eds.)|NCI|N|
C1336295|Stage II includes: T2, N0, M0. T2: Tumor more than 2 cm but not more than 4 cm in greatest dimension. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C1336296|Stage II carcinoma of the liver according to the American Joint Committee on Cancer, 6th, 7th, and 8th editions.|NCI|N|
C1336297|Ann Arbor Classification: Stage II: Involvement of two or more lymph node regions on the same side of the diaphragm (II); or localized involvement of a single extralymphatic organ or site in association with regional lymph node involvement with or without involvement of other lymph node regions on the same side of the diaphragm (IIE).|NCI|N|
C1336298|Ann Arbor Classification: Stage II: Involvement of two or more lymph node regions on the same side of the diaphragm (II); or localized involvement of a single extralymphatic organ or site in association with regional lymph node involvement with or without involvement of other lymph node regions on the same side of the diaphragm (IIE). The number of regions involved may be indicated by a subscript (e.g., II3).|NCI|N|
C1336299|Ann Arbor Classification: Stage II: Involvement of two or more lymph node regions on the same side of the diaphragm (II); or localized involvement of a single extralymphatic organ or site in association with regional lymph node involvement with or without involvement of other lymph node regions on the same side of the diaphragm (IIE).|NCI|N|
C1336300|Stage II includes: T2, N0, M0. T2: Tumor invading two subsites in a single region or extending to involve an adjacent region within the nasoethmoidal complex, with or without bony invasion. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C1336301|Stage 2 includes stage 2A and stage 2B. Stage 2A: Localized tumor with incomplete gross excision; representative ipsilateral nonadherent lymph nodes negative for tumor microscopically. Stage 2B: Localized tumor with or without complete gross excision, with ipsilateral nonadherent lymph nodes positive for tumor. Enlarged contralateral lymph nodes must be negative microscopically. (cancer.gov)|NCI|N|
C1336302|Ann Arbor Classification: Stage II: Involvement of two or more lymph node regions on the same side of the diaphragm (II); or localized involvement of a single extralymphatic organ or site in association with regional lymph node involvement with or without involvement of other lymph node regions on the same side of the diaphragm (IIE).|NCI|N|
C1336303|Ann Arbor Classification: Stage II: Involvement of two or more lymph node regions on the same side of the diaphragm (II); or localized involvement of a single extralymphatic organ or site in association with regional lymph node involvement with or without involvement of other lymph node regions on the same side of the diaphragm (IIE).|NCI|N|
C1336306|Stage II includes: T2, N0, M0. T2: Tumor more than 2 cm but not more than 4 cm in greatest dimension. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C1336307|Stage II includes: IIA (T1, N0, M0, G3, G4); IIB (T2, N0, M0, G3, G4). T1: Tumor 8 cm or less in greatest dimension. T2: Tumor more than 8 cm in greatest dimension. N0: No regional lymph node metastasis. M0: No distant metastasis. G3: Poorly differentiated. G4: Undifferentiated. (AJCC 7th ed.)|NCI|N|
C1336308|Stage II includes: T2, N0, M0. T2: Tumor involves one or both ovaries with pelvic extension and/or implants. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C1336309|Stage II includes: T2, N0, M0. T2: Tumor involves one or both ovaries with pelvic extension and/or implants. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C1336310|Stage II includes: T2, N0, M0. T2: Tumor involves one or both ovaries with pelvic extension and/or implants. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C1336311|Stage II includes: T2, N0, M0. T2: Maxillary sinus: Tumor causing bone erosion or destruction including extension into the hard palate and/or middle nasal meatus, except extension to posterior wall of maxillary sinus and pterygoid plates. Ethmoid sinus: Tumor invading two subsites in a single region or extending to involve an adjacent region within the nasoethmoidal complex, with or without bony invasion. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C1336312|Stage II includes: T2, N0, M0. T2: Pleural mesothelioma with a tumor involving each of the ipsilateral pleural surfaces (parietal, mediastinal, diaphragmatic, and visceral pleura) with at least one of the following: involvement of diaphragmatic muscle; extension of tumor from visceral pleura into the underlying pulmonary parenchyma. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C1336313|Stage II includes: T2, N0, M0. T2: Tumor invades muscularis. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C1336314|Stage II includes: T2, N0, M0. T2: Tumor invades the muscularis. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C1336317|Stage II includes: T2, N0, M0. T2: Tumor size greater than 2 cm in greatest dimension or tumor of any size with two or more high-risk features. High-risk features for the primary tumor staging are defined as follows: depth/invasion of more than 2 mm thickness; Clark level equal or greater than IV; and perineural invasion. Anatomic location: primary site ear and primary site non-hair-bearing lip. Differentiation: poorly differentiated or undifferentiated. N0: No regional lymph node metastasis. M0: No clinical or radiographic evidence of distant metastasis. (AJCC 7th ed.)|NCI|N|
C1336318|Stage II includes: IIA (T2b, N0, M0); (T1a, N1, M0); (T1b, N1, M0); (T2a, N1, M0) and IIB (T2b, N1, M0); (T3, N0, M0). T2b: Lung cancer with a tumor size more than 5 cm but 7 cm or less in greatest dimension. T1a: Lung cancer with a tumor size of 2 cm or less in greatest dimension, surrounded by lung or visceral pleura and without bronchoscopic evidence of invasion more proximal than the lobar bronchus (i.e., not in the main bronchus). The uncommon superficial tumor of any size with its invasive component limited to the bronchial wall, which may extend proximal to the main bronchus, is also classified as T1a. T1b: Lung cancer with a tumor size more than 2 cm but 3 cm or less in greatest dimension, surrounded by lung or visceral pleura and without bronchoscopic evidence of invasion more proximal than the lobar bronchus (i.e., not in the main bronchus). T2a: Lung cancer with a tumor size more than 3 cm but 5 cm or less in greatest dimension. T3: Lung cancer with a tumor size more than 7 cm or one that directly invades any of the following: parietal pleural (PL3) chest wall (including superior sulcus tumors), diaphragm, phrenic nerve, mediastinal pleura, parietal pericardium; or tumor in the main bronchus (less than 2 cm distal to the carina but without involvement of the carina); or associated atelectasis or obstructive pneumonitis of the entire lung or separate tumor nodule(s) in the same lobe. N0: No regional lymph node metastasis. N1: Lung cancer with metastasis in ipsilateral peribronchial and/or ipsilateral hilar lymph nodes and intrapulmonary lymph nodes, including involvement by direct extension. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C1336319|Stage II includes: IIA (T1a, N0, M0, G2, G3); (T1b, N0, M0, G2, G3); IIB (T2a, N0, M0, G2); (T2b, N0, M0, G2). T1a: Superficial tumor 5 cm or less in greatest dimension. T1b: Deep tumor 5 cm or less in greatest dimension. T2a: Superficial tumor more than 5 cm in greatest dimension. T2b: Deep tumor more than 5 cm in greatest dimension. N0: No regional lymph node metastasis. M0: No distant metastasis. G2: Grade 2. G3: Grade 3. (AJCC 7th ed.)|NCI|N|
C1336322|Ann Arbor Classification: Stage II: Involvement of two or more lymph node regions on the superior side of the diaphragm (II) or localized involvement of a single associated extralymphatic organ or site and its regional lymph node(s) with or without involvement of other lymph node regions on the same side of the diaphragm (IIE). Note: The number of lymph node regions involved may be indicated by a subscript.|NCI|N|
C1336325|Stage II includes: Any pT/TX, N1-3, M0, SX. pTX: Primary tumor cannot be assessed. N1: Metastasis with a lymph node mass 2 cm or less in greatest dimension; or multiple lymph nodes, none more than 2cm in greatest dimension. N2: Metastasis with a lymph node mass more than 2 cm but not more than 5 cm in greatest dimension; or multiple lymph nodes, any one mass greater than 2 cm but not more than 5 cm in greatest dimension. N3: Metastasis with a lymph node mass more than 5 cm in greatest dimension. M0: No distant metastasis. SX: Marker studies not available or not performed. (AJCC 6th and 7th eds.)|NCI|N|
C1336326|Stage II includes: Any pT/TX, N1-3, M0, SX. pTX: Primary tumor cannot be assessed. N1: Metastasis with a lymph node mass 2 cm or less in greatest dimension; or multiple lymph nodes, none more than 2cm in greatest dimension. N2: Metastasis with a lymph node mass more than 2 cm but not more than 5 cm in greatest dimension; or multiple lymph nodes, any one mass greater than 2 cm but not more than 5 cm in greatest dimension. N3: Metastasis with a lymph node mass more than 5 cm in greatest dimension. M0: No distant metastasis. SX: Marker studies not available or not performed. (AJCC 6th and 7th eds.)|NCI|N|
C1336327|Stage II includes: (T2, N0, M0); (T3, N0, M0). T2: Tumor more than 2 cm but not more than 4 cm in greatest dimension, limited to the thyroid gland. T3: Tumor more than 4 cm in greatest dimension and limited to the thyroid gland, or tumor of any size with minimal extrathyroid extension (e.g., extension to sternothyroid muscle or perithyroid soft tissues). N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C1336328|Stage II includes: T2, N0, M0. T2: Tumor invades the muscularis. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C1336329|Stage II includes: T2, N0, M0. T2: Tumor invades any of the following: corpus spongiosum, prostate, periurethral muscle. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C1336330|Stage II includes: IIA (T1b-d, N0, M0); (T2a, N0, M0); IIB (T2b, N0, M0); (T3a, N0, M0). T1b: Iris: Tumor limited to the iris more than 3 clock hours in size. Ciliary body and choroid: Tumor size category 1 with ciliary body involvement. T1c: Iris: Tumor limited to the iris with secondary glaucoma. Ciliary body and choroid: Tumor size category 1 without ciliary body involvement but with extraocular extension less than or equal to 5 mm in diameter. T1d: Ciliary body and choroid: Tumor size category 1 with ciliary body involvement and extraocular extension less than or equal to 5 mm in diameter. T2a: Iris: Tumor confluent with or extending into the ciliary body, choroid, or both, with secondary glaucoma. Ciliary body and choroid: Tumor size category 2 without ciliary body involvement and extraocular extension. T2b: Ciliary body and choroid: Tumor size category 2 with ciliary body involvement. T3a: Iris: Tumor confluent with or extending into the ciliary body, choroid, or both, with sclera extension and secondary glaucoma. Ciliary body and choroid: Tumor size category 3 without ciliary body involvement and extraocular extension. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C1336332|Stage IV includes T4b, NO,MO/any T NI, MO/ any T N2 MO,/ any T N3 MO/ any T any N M1 : T4b: Tumor invades the pelvic wall, abdominal wall. N1: Metastasis in a single lymph node, 2 cm or less in greatest dimension. N2: Metastasis in a single lymph node, more than 2 cm but not more than 5 cm in greatest dimension; or multiple lymph nodes, none more than 5 cm in greatest dimension. N3: Metastasis in a lymph node more than 5 cm in greatest dimension. M1: Distant metastasis.|NCI|N|
C1336333|Stage IVA includes: Any T, N0, M1a, Any G. N0: No regional lymph node metastasis. M1a: Distant metastasis to lung. (AJCC 7th ed.)|NCI|N|
C1336334|Stage IVA includes: T4, Any N, M0. T4: Tumor invades bladder mucosa and/or bowel mucosa (bullous edema is not sufficient to classify a tumor as T4). M0: No distant metastasis. This staging applies to carcinomas and carcinosarcomas. (AJCC 7th ed.)|NCI|N|
C1336339|Stage IVA includes: Any T, N1, M0. N1: Regional lymph node metastasis. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C1336340|Stage IVA includes: (T4a, N0, M0); (T4a, N1, M0); (T1, N2, M0); (T2, N2, M0); (T3, N2, M0); (T4a, N2, M0). T4a: Tumor with moderately advanced local disease. Tumor invades the thyroid/cricoid cartilage, hyoid bone, thyroid gland, or central compartment soft tissue. Central compartment soft tissue includes prelaryngeal strap muscles and subcutaneous fat. T1: Tumor limited to one subsite of hypopharynx and/or 2 cm or less in greatest dimension. T2: Tumor invades more than one subsite of the hypopharynx or an adjacent site, or measures more than 2 cm but not more than 4 cm in greatest diameter without fixation of hemilarynx. T3: Tumor measuring more than 4 cm in greatest dimension or tumor with fixation of hemilarynx or extension to esophagus. N0: No regional lymph node metastasis. N1: Metastasis in a single ipsilateral lymph node, 3 cm or less in greatest dimension. N2: Tumor with metastasis in a single ipsilateral lymph node, more than 3 cm but not more than 6 cm in greatest dimension, or in multiple ipsilateral lymph nodes, none more than 6 cm in greatest dimension, or in bilateral or contralateral lymph nodes, none more than 6 cm in greatest dimension. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C1336341|Stage IVA includes: (T4a, N0, M0); (T4a, N1, M0); (T1, N2, M0); (T2, N2, M0); (T3, N2, M0); (T4a, N2, M0). T4a: Tumor with moderately advanced local disease. Tumor invades the thyroid/cricoid cartilage, hyoid bone, thyroid gland, or central compartment soft tissue. Central compartment soft tissue includes prelaryngeal strap muscles and subcutaneous fat. T1: Tumor limited to one subsite of hypopharynx and/or 2 cm or less in greatest dimension. T2: Tumor invades more than one subsite of the hypopharynx or an adjacent site, or measures more than 2 cm but not more than 4 cm in greatest diameter without fixation of hemilarynx. T3: Tumor measuring more than 4 cm in greatest dimension or tumor with fixation of hemilarynx or extension to esophagus. N0: No regional lymph node metastasis. N1: Metastasis in a single ipsilateral lymph node, 3 cm or less in greatest dimension. N2: Tumor with metastasis in a single ipsilateral lymph node, more than 3 cm but not more than 6 cm in greatest dimension, or in multiple ipsilateral lymph nodes, none more than 6 cm in greatest dimension, or in bilateral or contralateral lymph nodes, none more than 6 cm in greatest dimension. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C1336342|Stage IVA includes: (T4a, N0, M0); (T4a, N1, M0); (T1, N2, M0); (T2, N2, M0); (T3, N2, M0); (T4a, N2, M0); T4a: Supraglottis: Moderately advanced local disease. Tumor invades through the thyroid cartilage and/or invades tissues beyond the larynx (e.g., trachea, soft tissues of neck including deep extrinsic muscle of the tongue, strap muscles, thyroid, or esophagus). Glottis: Moderately advanced local disease. Tumor invades through the outer cortex of the thyroid cartilage and/or invades tissues beyond the larynx (e.g., trachea, soft tissues of neck including deep extrinsic muscles of the tongue, strap muscles, thyroid, or esophagus). Subglottis: Moderately advanced local disease. Tumor invades cricoid or thyroid cartilage and/or invades tissues beyond the larynx (e.g., trachea, soft tissues of neck including deep extrinsic muscles of the tongue, strap muscles, thyroid, or esophagus). N0: No regional lymph node metastasis. N1: Metastasis in a single ipsilateral lymph node, 3 cm or less in greatest dimension. N2: Metastasis in a single ipsilateral lymph node, more than 3 cm but not more than 6 cm in greatest dimension, or in multiple ipsilateral lymph nodes, none more than 6 cm in greatest dimension, or in bilateral or contralateral lymph nodes, none more than 6 cm in greatest dimension. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C1336343|Stage IVA includes: (T4a, N0, M0); (T4a, N1, M0); (T1, N2, M0); (T2, N2, M0); (T3, N2, M0); (T4a, N2, M0); T4a: Supraglottis: Moderately advanced local disease. Tumor invades through the thyroid cartilage and/or invades tissues beyond the larynx (e.g., trachea, soft tissues of neck including deep extrinsic muscle of the tongue, strap muscles, thyroid, or esophagus). Glottis: Moderately advanced local disease. Tumor invades through the outer cortex of the thyroid cartilage and/or invades tissues beyond the larynx (e.g., trachea, soft tissues of neck including deep extrinsic muscles of the tongue, strap muscles, thyroid, or esophagus). Subglottis: Moderately advanced local disease. Tumor invades cricoid or thyroid cartilage and/or invades tissues beyond the larynx (e.g., trachea, soft tissues of neck including deep extrinsic muscles of the tongue, strap muscles, thyroid, or esophagus). N0: No regional lymph node metastasis. N1: Metastasis in a single ipsilateral lymph node, 3 cm or less in greatest dimension. N2: Metastasis in a single ipsilateral lymph node, more than 3 cm but not more than 6 cm in greatest dimension, or in multiple ipsilateral lymph nodes, none more than 6 cm in greatest dimension, or in bilateral or contralateral lymph nodes, none more than 6 cm in greatest dimension. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C1336344|Stage IVA includes: (T4a, N0, M0); (T4a, N1, M0); (T1, N2, M0); (T2, N2, M0); (T3, N2, M0); (T4a, N2, M0); T4a: Supraglottis: Moderately advanced local disease. Tumor invades through the thyroid cartilage and/or invades tissues beyond the larynx (e.g., trachea, soft tissues of neck including deep extrinsic muscle of the tongue, strap muscles, thyroid, or esophagus). Glottis: Moderately advanced local disease. Tumor invades through the outer cortex of the thyroid cartilage and/or invades tissues beyond the larynx (e.g., trachea, soft tissues of neck including deep extrinsic muscles of the tongue, strap muscles, thyroid, or esophagus). Subglottis: Moderately advanced local disease. Tumor invades cricoid or thyroid cartilage and/or invades tissues beyond the larynx (e.g., trachea, soft tissues of neck including deep extrinsic muscles of the tongue, strap muscles, thyroid, or esophagus). N0: No regional lymph node metastasis. N1: Metastasis in a single ipsilateral lymph node, 3 cm or less in greatest dimension. N2: Metastasis in a single ipsilateral lymph node, more than 3 cm but not more than 6 cm in greatest dimension, or in multiple ipsilateral lymph nodes, none more than 6 cm in greatest dimension, or in bilateral or contralateral lymph nodes, none more than 6 cm in greatest dimension. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C1336345|Stage IVA includes: (T4a, N0, M0); (T4a, N1, M0); (T1, N2, M0); (T2, N2, M0); (T3, N2, M0); (T4a, N2, M0). T4a: Lip cancer with moderately advanced local disease. Tumor invades through cortical bone, inferior alveolar nerve, floor of mouth, or skin of face, i.e., chin or nose. T1: Tumor 2 cm or less in greatest dimension. T2: Tumor more than 2 cm but not more than 4 cm in greatest dimension. T3: Tumor more than 4 cm in greatest dimension. N0: No regional lymph node metastasis. N1: Metastasis in a single ipsilateral lymph node, 3 cm or less in greatest dimension. N2: Metastasis in a single ipsilateral lymph node, more than 3 cm but not more than 6 cm in greatest dimension; or in multiple ipsilateral lymph nodes, none more than 6 cm in greatest dimension; or in bilateral or contralateral lymph nodes, none more than 6 cm in greatest dimension. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C1336347|Stage IVA includes: (T4a, N0, M0); (T4a, N1, M0); (T1, N2, M0); (T2, N2, M0); (T3, N2, M0); (T4a, N2, M0). T4a: Moderately advanced disease. Tumor invades skin, mandible, ear canal, and/or facial nerve. T1: Tumor measuring 2 cm or less in greatest dimension without extraparenchymal extension. Extraparenchymal extension is clinical or macroscopic evidence of invasion of soft tissues. Microscopic evidence alone does not constitute extraparenchymal extension for classification purposes. T2: Tumor measuring more than 2 cm, but not more than 4 cm in greatest dimension without extraparenchymal extension. T3: Tumor measuring more than 4 cm in greatest dimension, and/or tumor having extraparenchymal extension. N0: No regional lymph node metastasis. N1: Metastasis in a single ipsilateral lymph node, 3 cm or less in greatest dimension. N2: Metastasis in a single ipsilateral lymph node, more than 3 cm but not more than 6 cm in greatest dimension, or in multiple ipsilateral lymph nodes, none more than 6 cm in greatest dimension, or in bilateral or contralateral lymph nodes, none more than 6 cm in greatest dimension. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C1336348|Stage IVA includes: (T4, N0, M0); (T4, N1, M0); (T4, N2, M0). T4: Nasopharyngeal cancer with intracranial extension and/or involvement of cranial nerves, hypopharynx, orbit, or with extension to the infratemporal fossa/masticator space. N0: No regional lymph node metastasis. N1: Nasopharyngeal cancer with unilateral metastasis in cervical lymph node(s), 6 cm or less in greatest dimension, above the supraclavicular fossa, and/or unilateral or bilateral, retropharyngeal lymph nodes, 6 cm or less in greatest dimension. Midline nodes are considered ipsilateral nodes. N2: Nasopharyngeal cancer with bilateral metastasis in cervical lymph node(s), 6 cm or less in greatest dimension, above the supraclavicular fossa. Midline nodes are considered ipsilateral nodes. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C1336349|Stage IVA includes: (T4, N0, M0); (T4, N1, M0); (T4, N2, M0). T4: Nasopharyngeal cancer with intracranial extension and/or involvement of cranial nerves, hypopharynx, orbit, or with extension to the infratemporal fossa/masticator space. N0: No regional lymph node metastasis. N1: Nasopharyngeal cancer with unilateral metastasis in cervical lymph node(s), 6 cm or less in greatest dimension, above the supraclavicular fossa, and/or unilateral or bilateral, retropharyngeal lymph nodes, 6 cm or less in greatest dimension. Midline nodes are considered ipsilateral nodes. N2: Nasopharyngeal cancer with bilateral metastasis in cervical lymph node(s), 6 cm or less in greatest dimension, above the supraclavicular fossa. Midline nodes are considered ipsilateral nodes. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C1336350|Stage IVA includes: (T4a, N0, M0); (T4a, N1, M0); (T1, N2, M0); (T2, N2, M0); (T3, N2, M0); (T4a, N2, M0). T4a: Oral cavity cancer with moderately advanced local disease. Tumor invades adjacent structures only (e.g., through cortical bone [mandible or maxilla] into deep [extrinsic] muscle of tongue [genioglossus, hyoglossus, palatoglossus, and styloglossus], maxillary sinus, skin of face). T1: Tumor 2 cm or less in greatest dimension. T2: Tumor more than 2 cm but not more than 4 cm in greatest dimension. T3: Tumor more than 4 cm in greatest dimension. N0: No regional lymph node metastasis. N1: Metastasis in a single ipsilateral lymph node, 3 cm or less in greatest dimension. N2: Metastasis in a single ipsilateral lymph node, more than 3 cm but not more than 6 cm in greatest dimension; or in multiple ipsilateral lymph nodes, none more than 6 cm in greatest dimension; or in bilateral or contralateral lymph nodes, none more than 6 cm in greatest dimension. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C1336351|Stage IVA includes: (T4a, N0, M0); (T4a, N1, M0); (T1, N2, M0); (T2, N2, M0); (T3, N2, M0); (T4a, N2, M0). T4a: Oral cavity cancer with moderately advanced local disease. Tumor invades adjacent structures only (e.g., through cortical bone [mandible or maxilla] into deep [extrinsic] muscle of tongue [genioglossus, hyoglossus, palatoglossus, and styloglossus], maxillary sinus, skin of face). T1: Tumor 2 cm or less in greatest dimension. T2: Tumor more than 2 cm but not more than 4 cm in greatest dimension. T3: Tumor more than 4 cm in greatest dimension. N0: No regional lymph node metastasis. N1: Metastasis in a single ipsilateral lymph node, 3 cm or less in greatest dimension. N2: Metastasis in a single ipsilateral lymph node, more than 3 cm but not more than 6 cm in greatest dimension; or in multiple ipsilateral lymph nodes, none more than 6 cm in greatest dimension; or in bilateral or contralateral lymph nodes, none more than 6 cm in greatest dimension. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C1336352|Stage IVA includes: (T4a, N0, M0); (T4a, N1, M0); (T1, N2, M0); (T2, N2, M0); (T3, N2, M0); (T4a, N2, M0). T4a: Oral cavity cancer with moderately advanced local disease. Tumor invades adjacent structures only (e.g., through cortical bone [mandible or maxilla] into deep [extrinsic] muscle of tongue [genioglossus, hyoglossus, palatoglossus, and styloglossus], maxillary sinus, skin of face). T1: Tumor 2 cm or less in greatest dimension. T2: Tumor more than 2 cm but not more than 4 cm in greatest dimension. T3: Tumor more than 4 cm in greatest dimension. N0: No regional lymph node metastasis. N1: Metastasis in a single ipsilateral lymph node, 3 cm or less in greatest dimension. N2: Metastasis in a single ipsilateral lymph node, more than 3 cm but not more than 6 cm in greatest dimension; or in multiple ipsilateral lymph nodes, none more than 6 cm in greatest dimension; or in bilateral or contralateral lymph nodes, none more than 6 cm in greatest dimension. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C1336353|Stage IVA includes: (T4a, N0, M0); (T4a, N1, M0); (T1, N2, M0); (T2, N2, M0); (T3, N2, M0); (T4a, N2, M0). T4a: Oral cavity cancer with moderately advanced local disease. Tumor invades adjacent structures only (e.g., through cortical bone [mandible or maxilla] into deep [extrinsic] muscle of tongue [genioglossus, hyoglossus, palatoglossus, and styloglossus], maxillary sinus, skin of face). T1: Tumor 2 cm or less in greatest dimension. T2: Tumor more than 2 cm but not more than 4 cm in greatest dimension. T3: Tumor more than 4 cm in greatest dimension. N0: No regional lymph node metastasis. N1: Metastasis in a single ipsilateral lymph node, 3 cm or less in greatest dimension. N2: Metastasis in a single ipsilateral lymph node, more than 3 cm but not more than 6 cm in greatest dimension; or in multiple ipsilateral lymph nodes, none more than 6 cm in greatest dimension; or in bilateral or contralateral lymph nodes, none more than 6 cm in greatest dimension. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C1336355|Stage IVA includes: (T4a, N0, M0); (T4a, N1, M0); (T1, N2, M0); (T2, N2, M0); (T3, N2, M0); (T4a, N2, M0). T4a: Tumor with moderately advanced local disease. Tumor invades the larynx, extrinsic muscle of tongue, medial pterygoid, hard palate, or mandible. Mucosal extension to lingual surface of epiglottis from primary tumors of the base of the tongue and vallecula does not constitute invasion of larynx. T1: Tumor 2 cm or less in greatest dimension. T2: Tumor more than 2 cm but not more than 4 cm in greatest dimension. T3: Tumor measuring more than 4 centimeters in greatest dimension or extension to lingual surface of epiglottis. N0: No regional lymph node metastasis. N1: Metastasis in a single ipsilateral lymph node, 3 cm or less in greatest dimension. N2: Tumor with metastasis in a single ipsilateral lymph node, more than 3 cm but not more than 6 cm in greatest dimension, or in multiple ipsilateral lymph nodes, none more than 6 cm in greatest dimension, or in bilateral or contralateral lymph nodes, none more than 6 cm in greatest dimension. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C1336356|Stage IVA includes: (T4a, N0, M0); (T4a, N1, M0); (T1, N2, M0); (T2, N2, M0); (T3, N2, M0); (T4a, N2, M0). T4a: Tumor with moderately advanced local disease. Tumor invades the larynx, extrinsic muscle of tongue, medial pterygoid, hard palate, or mandible. Mucosal extension to lingual surface of epiglottis from primary tumors of the base of the tongue and vallecula does not constitute invasion of larynx. T1: Tumor 2 cm or less in greatest dimension. T2: Tumor more than 2 cm but not more than 4 cm in greatest dimension. T3: Tumor measuring more than 4 centimeters in greatest dimension or extension to lingual surface of epiglottis. N0: No regional lymph node metastasis. N1: Metastasis in a single ipsilateral lymph node, 3 cm or less in greatest dimension. N2: Tumor with metastasis in a single ipsilateral lymph node, more than 3 cm but not more than 6 cm in greatest dimension, or in multiple ipsilateral lymph nodes, none more than 6 cm in greatest dimension, or in bilateral or contralateral lymph nodes, none more than 6 cm in greatest dimension. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C1336357|Stage IVA includes: Any T, N0, M1a, Any G. N0: No regional lymph node metastasis. M1a: Distant metastasis to lung. (AJCC 7th ed.)|NCI|N|
C1336358|Stage IVA includes: (T4a, N0, M0); (T4a, N1, M0); (T1, N2, M0); (T2, N2, M0); (T3, N2, M0); (T4a, N2, M0); T4a: Maxillary sinus: Moderately advanced local disease. Tumor invades anterior orbital contents, skin of cheek, pterygoid plates, infratemporal fossa, cribriform plate, sphenoid or frontal sinuses. Ethmoid sinus: Moderately advanced local disease. Tumor invades any of the following: anterior orbital contents, skin of nose or cheek, minimal extension to anterior cranial fossa, pterygoid plates, sphenoid or frontal sinuses. T1: Maxillary sinus: Tumor limited to the maxillary sinus mucosa with no erosion or destruction of bone. Ethmoid sinus: Tumor restricted to any one subsite, with or without bony invasion. T2: Maxillary sinus: Tumor causing bone erosion or destruction including extension into the hard palate and/or middle nasal meatus, except extension to posterior wall of maxillary sinus and pterygoid plates. Ethmoid sinus: Tumor invading two subsites in a single region or extending to involve an adjacent region within the nasoethmoidal complex, with or without bony invasion. T3: Maxillary sinus: Tumor invading any of the following: bone of the posterior wall of maxillary sinus, subcutaneous tissues, floor or medial wall of orbit, pterygoid fossa, or ethmoid sinuses. Ethmoid sinus: Tumor invading the medial wall or floor of the orbit, maxillary sinus, palate, or cribriform plate. N0: No regional lymph node metastasis. N1: Metastasis in a single ipsilateral lymph node, 3 cm or less in greatest dimension. N2: Metastasis in a single ipsilateral lymph node, more than 3 cm but not more than 6 cm in greatest dimension, or in multiple ipsilateral lymph nodes, none more than 6 cm in greatest dimension, or in bilateral or contralateral lymph nodes, none more than 6 cm in greatest dimension. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C1336359|Stage IVA carcinoma of the pharynx according to the American Joint Committee on Cancer, 6th, 7th, and 8th editions.|NCI|N|
C1336360|Stage IVA includes: IVA (T1, N2, M0); (T2, N2, M0); (T3, N2, M0); (T4, Any N, M0). N2: Bilateral regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th ed.)|NCI|N|
C1336362|Stage IV includes T4b, NO,MO/any T NI, MO/ any T N2 MO,/ any T N3 MO/ any T any N M1 : T4b: Tumor invades the pelvic wall, abdominal wall. N1: Metastasis in a single lymph node, 2 cm or less in greatest dimension. N2: Metastasis in a single lymph node, more than 2 cm but not more than 5 cm in greatest dimension; or multiple lymph nodes, none more than 5 cm in greatest dimension. N3: Metastasis in a lymph node more than 5 cm in greatest dimension. M1: Distant metastasis.|NCI|N|
C1336363|Stage IVB includes: (Any T, N1, Any M, Any G); (Any T, Any N, M1b, Any G). N1: Regional lymph node metastasis. M1b: Metastasis to other distant sites. (AJCC 7th ed.)|NCI|N|
C1336364|Stage IVB includes: Any T, Any N, M1. M1: Distant metastasis (includes metastasis to inguinal lymph nodes, intraperitoneal disease, or lung, liver, or bone. It excludes metastasis to para-aortic lymph nodes, vagina, pelvic serosa, or adnexa). This staging applies to carcinomas and carcinosarcomas. (AJCC 7th ed.)|NCI|N|
C1336369|Stage IVB includes: Any T, Any N, M1. M1: Distant metastasis. (AJCC 7th ed.)|NCI|N|
C1336371|Stage IVB includes: (T4b, Any N, M0); (Any T, N3, M0). T4b: Tumor with very advanced local disease. Tumor invades prevertebral fascia, encases carotid artery, or involves mediastinal structures. N3: Metastasis in a lymph node more than 6 cm in greatest dimension. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C1336372|Stage IVB includes: (T4b, Any N, M0); (Any T, N3, M0). T4b: Tumor with very advanced local disease. Tumor invades prevertebral fascia, encases carotid artery, or involves mediastinal structures. N3: Metastasis in a lymph node more than 6 cm in greatest dimension. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C1336373|Stage IVB includes: (T4b, Any N, M0); (Any T, N3, M0). T4b: Supraglottis: Very advanced local disease. Tumor invades prevertebral space, encases carotid artery, or invades mediastinal structures. Glottis: Very advanced local disease. Tumor invades prevertebral space, encases carotid artery, or invades mediastinal structures. Subglottis: Very advanced local disease. Tumor invades prevertebral space, encases carotid artery, or invades mediastinal structures. N3: Metastasis in a lymph node, more than 6 cm in greatest dimension. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C1336374|Stage IVB includes: (T4b, Any N, M0); (Any T, N3, M0). T4b: Supraglottis: Very advanced local disease. Tumor invades prevertebral space, encases carotid artery, or invades mediastinal structures. Glottis: Very advanced local disease. Tumor invades prevertebral space, encases carotid artery, or invades mediastinal structures. Subglottis: Very advanced local disease. Tumor invades prevertebral space, encases carotid artery, or invades mediastinal structures. N3: Metastasis in a lymph node, more than 6 cm in greatest dimension. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C1336375|Stage IVB includes: (T4b, Any N, M0); (Any T, N3, M0). T4b: Supraglottis: Very advanced local disease. Tumor invades prevertebral space, encases carotid artery, or invades mediastinal structures. Glottis: Very advanced local disease. Tumor invades prevertebral space, encases carotid artery, or invades mediastinal structures. Subglottis: Very advanced local disease. Tumor invades prevertebral space, encases carotid artery, or invades mediastinal structures. N3: Metastasis in a lymph node, more than 6 cm in greatest dimension. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C1336377|Stage IVB carcinoma of the liver according to the American Joint Committee on Cancer, 7th and 8th editions.|NCI|N|
C1336378|Stage IVB includes: (T4b, Any N, M0); (Any T, N3, M0). T4b: Very advanced disease. Tumor invades skull base and/or pterygoid plates and/or encases carotid artery. N3: Metastasis in a lymph node, more than 6 cm in greatest dimension. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C1336379|Stage IVB includes: Any T, N3, M0. N3: Nasopharyngeal cancer with metastasis in a lymph node (s) more than 6 cm in greatest dimension and/or to supraclavicular fossa. Supraclavicular zone or fossa is relevant to the staging of nasopharyngeal carcinoma and is the triangular region originally described by Ho. It is defined by three points: (1) the superior margin of the sternal end of the clavicle, (2) the superior margin of the lateral end of the clavicle, (3) the point where the neck meets the shoulder. This would include caudal portions of levels IV and VB. All cases with lymph nodes (whole or part) in the fossa are considered N3b. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C1336380|Stage IVB includes: Any T, N3, M0. N3: Nasopharyngeal cancer with metastasis in a lymph node (s) more than 6 cm in greatest dimension and/or to supraclavicular fossa. Supraclavicular zone or fossa is relevant to the staging of nasopharyngeal carcinoma and is the triangular region originally described by Ho. It is defined by three points: (1) the superior margin of the sternal end of the clavicle, (2) the superior margin of the lateral end of the clavicle, (3) the point where the neck meets the shoulder. This would include caudal portions of levels IV and VB. All cases with lymph nodes (whole or part) in the fossa are considered N3b. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C1336381|Stage IVB includes: (Any T, N3, M0); (T4b, Any N, M0). T4b: Oral cavity cancer with very advanced local disease. Tumor invades masticator space, pterygoid plates, or skull base and/or encases internal carotid artery. N3: Metastasis in a lymph node more than 6 cm in greatest dimension. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C1336382|Stage IVB includes: (Any T, N3, M0); (T4b, Any N, M0). T4b: Oral cavity cancer with very advanced local disease. Tumor invades masticator space, pterygoid plates, or skull base and/or encases internal carotid artery. N3: Metastasis in a lymph node more than 6 cm in greatest dimension. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C1336383|Stage IVB includes: (Any T, N3, M0); (T4b, Any N, M0). T4b: Oral cavity cancer with very advanced local disease. Tumor invades masticator space, pterygoid plates, or skull base and/or encases internal carotid artery. N3: Metastasis in a lymph node more than 6 cm in greatest dimension. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C1336384|Stage IVB includes: (Any T, N3, M0); (T4b, Any N, M0). T4b: Oral cavity cancer with very advanced local disease. Tumor invades masticator space, pterygoid plates, or skull base and/or encases internal carotid artery. N3: Metastasis in a lymph node more than 6 cm in greatest dimension. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C1336386|Stage IVB includes: (T4b, Any N, M0); (Any T, N3, M0). T4b: Tumor with very advanced local disease. Tumor invades lateral pterygoid muscle, pterygoid plates, lateral nasopharynx, or skull base or encases carotid artery. N3: Tumor with metastasis in a lymph node more than 6 cm in greatest dimension. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C1336387|Stage IVB includes: (T4b, Any N, M0); (Any T, N3, M0). T4b: Tumor with very advanced local disease. Tumor invades lateral pterygoid muscle, pterygoid plates, lateral nasopharynx, or skull base or encases carotid artery. N3: Tumor with metastasis in a lymph node more than 6 cm in greatest dimension. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C1336388|Stage IVB includes: (Any T, N1, Any M, Any G); (Any T, Any N, M1b, Any G). N1: Regional lymph node metastasis. M1b: Metastasis to other distant sites. (AJCC 7th ed.)|NCI|N|
C1336389|Stage IVB includes: (T4b, Any N, M0); (Any T, N3, M0). T4b: Very advanced local disease. Tumor invades any of the following: orbital apex, dura, brain, middle cranial fossa, cranial nerves other than maxillary division of trigeminal nerve, nasopharynx, or clivus. N3: Metastasis in a lymph node, more than 6 cm in greatest dimension. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C1336390|Stage IVB carcinoma of the pharynx according to the American Joint Committee on Cancer, 6th, 7th, and 8th editions.|NCI|N|
C1336392|Stage IVC includes: Any T, Any N, M1. M1: Distant metastasis. (AJCC 7th ed.)|NCI|N|
C1336393|Stage IVC includes: Any T, Any N, M1. M1: Distant metastasis. (AJCC 7th ed.)|NCI|N|
C1336394|Stage IVC includes: Any T, Any N, M1. M1: Distant metastasis. (AJCC 7th ed.)|NCI|N|
C1336395|Stage IVC includes: Any T, Any N, M1. M1: Distant metastasis. (AJCC 7th ed.)|NCI|N|
C1336396|Stage IVC includes: Any T, Any N, M1. M1: Distant metastasis. (AJCC 7th ed.)|NCI|N|
C1336397|Stage IVC includes: Any T, Any N, M1. M1: Distant metastasis. (AJCC 7th ed.)|NCI|N|
C1336398|Stage IVC includes: Any T, Any N, M1. M1: Distant metastasis. (AJCC 7th ed.)|NCI|N|
C1336399|Stage IVC includes: Any T, Any N, M1. M1: Distant metastasis. (AJCC 7th ed.)|NCI|N|
C1336400|Stage IVC includes: Any T, Any N, M1. M1: Distant metastasis. (AJCC 7th ed.)|NCI|N|
C1336401|Stage IVC includes: Any T, Any N, M1. M1: Distant metastasis. (AJCC 7th ed.)|NCI|N|
C1336402|Stage IVC includes: Any T, Any N, M1. M1: Distant metastasis. (AJCC 7th ed.)|NCI|N|
C1336403|Stage IVC includes: Any T, Any N, M1. M1: Distant metastasis. (AJCC 7th ed.)|NCI|N|
C1336404|Stage IVC includes: Any T, Any N, M1. M1: Distant metastasis. (AJCC 7th ed.)|NCI|N|
C1336406|Stage IVC includes: Any T, Any N, M1. M1: Distant metastasis. (AJCC 7th ed.)|NCI|N|
C1336407|Stage IVC includes: Any T, Any N, M1. M1: Distant metastasis. (AJCC 7th ed.)|NCI|N|
C1336408|Stage IVC includes: Any T, Any N, M1. M1: Distant metastasis. (AJCC 7th ed.)|NCI|N|
C1336409|Stage IVC carcinoma of the pharynx according to the American Joint Committee on Cancer, 6th, 7th, and 8th editions.|NCI|N|
C1336410|Stage IV includes: (Any T, Any N, M1). M1: Distant metastasis. (AJCC 6th and 7th Eds.)|NCI|N|
C1336412|Stage IV includes: Any T, Any N, M1. M1: Distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C1336413|Stage IV includes: IVA (Any T, N0, M1a, Any G); IVB (Any T, N1, Any M, Any G); (Any T, Any N, M1b, Any G). N0: No regional lymph node metastasis. N1: Regional lymph node metastasis. M1a: Distant metastasis to lung. M1b: Metastasis to other distant sites. (AJCC 7th ed.)|NCI|N|
C1336417|Stage IV includes: Any T, Any N, M1. M1: Distant metastasis. (AJCC 6th ed.)|NCI|N|
C1336418|Stage IV includes (Any T, Any N, M1). M1: Distant metastasis. (AJCC 6th ed.)|NCI|N|
C1336419|Stage IV includes: IVA (T4a, N0, M0); (T4a, N1, M0); (T1, N2, M0); (T2, N2, M0); (T3, N2, M0); (T4a, N2, M0); IVB (T4b, Any N, M0); (Any T, N3, M0); IVC (Any T, Any N, M1). T4a: Tumor invades thyroid/cricoid cartilage, hyoid bone, thyroid gland, esophagus, or central compartment soft tissue. T4b: Tumor invades prevertebral fascia, encases carotid artery, or involves mediastinal structures. N2: Metastasis in a single ipsilateral lymph node, more than 3cm but not more than 6cm in greatest dimension, or in bilateral or contralateral lymph nodes, none more than 6 cm in greatest dimension. N2a: Metastasis in a single ipsilateral lymph node more than 3 cm but not more than 6 cm in greatest dimension. N2b: Metastasis in multiple ipsilateral lymph nodes, none more than 6 cm in greatest dimension. N2c: Metastasis in bilateral or contralateral lymph nodes, none more than 6 cm in greatest dimension. N3: Metastasis in a lymph node more than 6 cm in greatest dimension. M1: Distant metastasis. (AJCC 6th ed.)|NCI|N|
C1336422|Stage IV includes: IVA (T4a, N0, M0); (T4a, N1, M0); (T1, N2, M0); (T2, N2, M0); (T3, N2, M0); (T4a, N2, M0);. IVB (Any T, N3, M0); (T4b, Any N, M0); IVC (Any T, Any N, M1). T4a (lip): Tumor invades through cortical bone, inferior alveolar nerve, floor of mouth, or skin of face, i.e., chin or nose. T4b: Tumor invades masticator space, pterygoid plates, or skull base and/or encases internal carotid artery. N2: Metastasis in a single ipsilateral lymph node, more than 3 cm but not more than 6 cm in greatest dimension; or in multiple ipsilateral lymph nodes, none more than 6 cm in greatest dimension; or in bilateral or contralateral lymph nodes, none more than 6 cm in greatest dimension. N2a: Metastasis in a single ipsilateral lymph node more than 3 cm but not more than 6 cm in dimension. N2b: Metastasis in multiple ipsilateral lymph nodes, none more than 6 cm in greatest dimension. N2c: Metastasis in bilateral or contralateral lymph nodes, none more than 6 cm in greatest dimension. N3: Metastasis in a lymph node more than 6 cm in greatest dimension. M1: Distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C1336423|Stage IV carcinoma of the liver according to the American Joint Committee on Cancer, 6th, 7th, and 8th editions.|NCI|N|
C1336424|Stage IV carcinoma of the major salivary glands with regional lymph nodes and/or distant metastases.|NCI|N|
C1336425|Stage IV carcinoma of the major salivary glands without regional lymph nodes or distant metastases.|NCI|N|
C1336426|Ann Arbor Classification: Stage IV: Diffuse or disseminated involvement of one or more extralymphatic organs, with or without associated lymph node involvement; or isolated extralymphatic organ involvement in the absence of adjacent regional lymph node involvement, but in conjunction with disease in distant site(s); or any involvement of the liver or bone marrow, lungs (other than by direct extension from another site), or cerebrospinal fluid.|NCI|N|
C1336427|Stage IV includes: IVA: (T4a, N0, M0); (T4a, N1, M0); (T1, N2, M0); (T2, N2, M0); (T3, N2, M0); (T4a, N2, M0); IVB: (T4b, Any N, M0); (Any T, N3, M0); IVC: (Any T, Any N, M1). T4a: Moderately advanced local disease. Tumor invades any of the following: anterior orbital contents, skin of nose or cheek, minimal extension to anterior cranial fossa, pterygoid plates, sphenoid or frontal sinuses. T4b: Very advanced local disease. Tumor invades any of the following: orbital apex, dura, brain, middle cranial fossa, cranial nerves other than maxillary division of trigeminal nerve, nasopharynx, or clivus. N0: No regional lymph node metastasis. N1: Metastasis in a single ipsilateral lymph node, 3 cm or less in greatest dimension. N2: Metastasis in a single ipsilateral lymph node, more than 3 cm but not more than 6 cm in greatest dimension, or in multiple ipsilateral lymph nodes, none more than 6 cm in greatest dimension, or in bilateral or contralateral lymph nodes, none more than 6 cm in greatest dimension. N3: Metastasis in a lymph node, more than 6 cm in greatest dimension. M0: No distant metastasis. M1: Distant metastasis. (AJCC 7th ed.)|NCI|N|
C1336428|Ann Arbor Classification: Stage IV: Diffuse or disseminated involvement of one or more extralymphatic organs, with or without associated lymph node involvement; or isolated extralymphatic organ involvement in the absence of adjacent regional lymph node involvement, but in conjunction with disease in distant site(s); or any involvement of the liver or bone marrow, lungs (other than by direct extension from another site), or cerebrospinal fluid.|NCI|N|
C1336429|Stage IV includes: IVA (T4a, N0, M0); (T4a, N1, M0); (T1, N2, M0); (T2, N2, M0); (T3, N2, M0); (T4a, N2, M0);. IVB (Any T, N3, M0); (T4b, Any N, M0); IVC (Any T, Any N, M1). T4a: (oral cavity) Tumor invades adjacent structures (e.g., through cortical bone, into deep [extrinsic] muscles of tongue, maxillary sinus, skin of face). T4b: Tumor invades masticator space, pterygoid plates, or skull base and/or encases internal carotid artery. N2: Metastasis in a single ipsilateral lymph node, more than 3 cm but not more than 6 cm in greatest dimension; or in multiple ipsilateral lymph nodes, none more than 6 cm in greatest dimension; or in bilateral or contralateral lymph nodes, none more than 6 cm in greatest dimension. N2a: Metastasis in a single ipsilateral lymph node more than 3 cm but not more than 6 cm in dimension. N2b: Metastasis in multiple ipsilateral lymph nodes, none more than 6 cm in greatest dimension. N2c: Metastasis in bilateral or contralateral lymph nodes, none more than 6 cm in greatest dimension. N3: Metastasis in a lymph node more than 6 cm in greatest dimension. M1: Distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C1336430|Stage IV includes: IVA (Any T, N0, M1a, Any G); IVB (Any T, N1, Any M, Any G); (Any T, Any N, M1b, Any G). N0: No regional lymph node metastasis. N1: Regional lymph node metastasis. M1a: Distant metastasis to lung. M1b: Metastasis to other distant sites. (AJCC 7th ed.)|NCI|N|
C1336431|Stage IV includes: Any T, Any N, M1. M1: Distant metastasis (excludes peritoneal metastasis). (AJCC 6th and 7th eds.)|NCI|N|
C1336432|Stage IV includes: Any T, Any N, M1. M1: Distant metastasis (excludes peritoneal metastasis). (AJCC 6th and 7th eds.)|NCI|N|
C1336433|Stage IV includes: Any T, Any N, M1. M1: Distant metastasis (excludes peritoneal metastasis). (AJCC 6th and 7th eds.)|NCI|N|
C1336434|Stage IV includes: IVA: (T4a, N0, M0); (T4a, N1, M0); (T1, N2, M0); (T2, N2, M0); (T3, N2, M0); (T4a, N2, M0); IVB: (T4b, Any N, M0); (Any T, N3, M0); IVC: (Any T, Any N, M1). T4a: Maxillary sinus: Moderately advanced local disease. Tumor invades anterior orbital contents, skin of cheek, pterygoid plates, infratemporal fossa, cribriform plate, sphenoid or frontal sinuses. Ethmoid sinus: Moderately advanced local disease. Tumor invades any of the following: anterior orbital contents, skin of nose or cheek, minimal extension to anterior cranial fossa, pterygoid plates, sphenoid or frontal sinuses. T4b: Very advanced local disease. Tumor invades any of the following: orbital apex, dura, brain, middle cranial fossa, cranial nerves other than maxillary division of trigeminal nerve, nasopharynx, or clivus. N0: No regional lymph node metastasis. N1: Metastasis in a single ipsilateral lymph node, 3 cm or less in greatest dimension. N2: Metastasis in a single ipsilateral lymph node, more than 3 cm but not more than 6 cm in greatest dimension, or in multiple ipsilateral lymph nodes, none more than 6 cm in greatest dimension, or in bilateral or contralateral lymph nodes, none more than 6 cm in greatest dimension. N3: Metastasis in a lymph node, more than 6 cm in greatest dimension. M0: No distant metastasis. M1: Distant metastasis. (AJCC 7th ed.)|NCI|N|
C1336435|Stage IV includes: (T4, Any N, M0); (Any T, N3, M0); (Any T, Any N, M1). T4: Pleural mesothelioma with a locally advanced technically unresectable tumor. Tumor involving all the ipsilateral pleural surfaces (parietal, mediastinal, diaphragmatic, and visceral pleura) with at least one of the following: diffuse extension or multifocal masses of tumor in the chest wall, with or without associated rib destruction; direct transdiaphragmatic extension of tumor to the peritoneum; direct extension of tumor to the contralateral pleura; direct extension of tumor to mediastinal organs; direct extension of tumor into the spine; tumor extending through to the internal surface of the pericardium with or without a pericardial effusion or tumor involving the myocardium. N3: Pleural mesothelioma with metastases in the contralateral mediastinal, contralateral internal mammary, ipsilateral or contralateral supraclavicular lymph nodes. M0: No distant metastasis. M1: Distant metastasis. (AJCC 7th ed.)|NCI|N|
C1336436|Stage IV includes: (T4, N0, M0); (Any T, N1, M0); (Any T, N2, M0); (Any T, N3, M0); (Any T, Any N, M1). T4: Tumor invades adjacent organs, or through the kidney into perinephric fat. N0: No regional lymph node metastasis. N1: Metastasis in a single lymph node, 2 cm or less in greatest dimension. N2: Metastasis in a single lymph node, more than 2 cm but not more than 5cm in greatest dimension; or multiple lymph nodes, none more than 5 cm in greatest dimension. N3: Metastasis in a lymph node, more than 5 cm in greatest dimension. M0: No distant metastasis. M1: Distant metastasis. (AJCC 7th ed.)|NCI|N|
C1336437|Stage IV includes: (T4, N0, M0); (Any T, N1, M0); (Any T, N2, M0); (Any T, N3, M0); (Any T, Any N, M1). T4: Tumor invades adjacent organs, or through the kidney into the perinephric fat. N0: No regional lymph node metastasis. N1: Metastasis in a single lymph node, 2 cm or less in greatest dimension. N2: Metastasis in a single lymph node, more than 2 cm but not more than 5 cm in greatest dimension; or multiple lymph nodes, none more than 5 cm in greatest dimension. N3: Metastasis in a lymph node, more than 5 cm in greatest dimension. M0: No distant metastasis. N1: Distant metastasis. (AJCC 7th ed.)|NCI|N|
C1336439|Stage IV includes: (T1, N2, M0); (T2, N2, M0); (T3, N2, M0); (T Any, N3, M0); (T4, N Any, M0); (T Any, N Any, M1). T1: Tumor 2 cm or less in greatest dimension with less than two high-risk features. T2: Tumor size greater than 2 cm in greatest dimension or tumor of any size with two or more high-risk features. T3: Tumor with invasion of maxilla, mandible, orbit, or temporal bone. T4: Tumor with invasion of skeleton or perineural invasion of skull base. N0: No regional lymph node metastasis. N2: Metastasis in a single ipsilateral lymph node, more than 3 cm but not more than 6 cm in greatest dimension; or in multiple ipsilateral lymph nodes, none more than 6 cm in greatest dimension; or in bilateral or contralateral lymph nodes, none more than 6 cm in greatest dimension. N3: Metastasis in a lymph node, more than 6 cm in greatest dimension. M1: Distant metastases. (AJCC 7th Ed.)|NCI|N|
C1336440|Stage IV includes: (Any T, Any N, M1a); (Any T, Any N, M1b). M1a: Lung cancer with separate tumor nodule(s) in a contralateral lobe; tumor with pleural nodules or malignant pleural (or pericardial) effusion. M1b: Distant metastasis. (AJCC 7th ed.)|NCI|N|
C1336442|Stage IV includes: IVA (T4a, N0, M0); (T4a, N1a, M0); (T1, N1b, M0); (T2, N1b, M0); (T3, N1b, M0); (T4a, N1b, M0); IVB (T4b, Any N, M0); IVC (Any T, Any N, M1). T4a: Moderately advanced local disease. Tumor of any size extending beyond the thyroid gland capsule to invade subcutaneous soft tissues, larynx, trachea, esophagus, or recurrent laryngeal nerve. T1: Tumor size 2 cm or less in greatest dimension, limited to the thyroid gland. T2: Tumor more than 2 cm but not more than 4 cm in greatest dimension, limited to the thyroid gland. T3: Tumor more than 4 cm in greatest dimension and limited to the thyroid gland, or tumor of any size with minimal extrathyroid extension (e.g., extension to sternothyroid muscle or perithyroid soft tissues). T4b: Very advanced disease. Tumor invades prevertebral fascia or encases carotid artery or mediastinal vessels. N0: No regional lymph node metastasis. N1a: Metastasis to pretracheal, paratracheal or prelaryngeal/Delphian lymph nodes (Level VI lymph nodes). N1b: Metastasis to unilateral, bilateral or contralateral cervical (Levels I, II, III, IV, or V) or retropharyngeal or superior mediastinal lymph nodes (Level VII). M0: No distant metastasis. M1: Distant metastasis. (AJCC 7th ed.)|NCI|N|
C1336443|Stage IV includes: (T4, N0, M0); (Any T, N1, M0); (Any T, N2, M0); (Any T, N3, M0); (Any T, Any N, M1). T4: Tumor invades adjacent organs, or through the kidney into the perinephric fat. N0: No regional lymph node metastasis. N1: Metastasis in a single lymph node, 2 cm or less in greatest dimension. N2: Metastasis in a single lymph node, more than 2 cm but not more than 5 cm in greatest dimension; or multiple lymph nodes, none more than 5 cm in greatest dimension. N3: Metastasis in a lymph node, more than 5 cm in greatest dimension. M0: No distant metastasis. N1: Distant metastasis. (AJCC 7th ed.)|NCI|N|
C1336444|Stage IV includes: (T4, N0, M0); (T4, N1, M0); (Any T, N2, M0), (Any T, Any N, M1). T4: Tumor invades other adjacent organs. N0: No regional lymph node metastasis. N1: Metastasis in a single lymph node 2 cm or less in greatest dimension. N2: Metastasis in a single lymph node more than 2 cm in greatest dimension, or in multiple lymph nodes. M0: No distant metastasis. M1: Distant metastasis. (AJCC 7th ed.)|NCI|N|
C1336445|Stage IV includes: (Any T, N1, M0); (Any T, Any N, M1a-c). N1: Regional lymph node metastasis. M1a: Distant metastasis, with the largest diameter of the largest metastasis measuring 3 cm or less. M1b: Distant metastasis, with the largest diameter of the largest metastasis measuring 3.1-8.0 cm. M1c: Distant metastasis, with the largest diameter of the largest metastasis measuring 8.0 cm or more. (AJCC 7th ed.)|NCI|N|
C1336446|Stage IV includes: IVA: (T4, Any N, M0) and IVB: (Any T, Any N, M1). T4: Tumor invades mucosa of the bladder or rectum and/or extends beyond the true pelvis (bullous edema is not sufficient evidence to classify tumor as T4). M0: No distant metastasis. M1: Distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C1336447|Stage I includes: T1, N0, M0. T1: Tumor 2 cm or less in greatest dimension. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th Eds.)|NCI|N|
C1336449|Stage I includes: IA (T1, N0, M0); IB (T2, N0, M0). T1: Tumor limited to ampulla of Vater or sphincter of Oddi. T2: Tumor invades duodenal wall. N0: No regional lymph node metastasis. M0: No distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C1336450|Stage I includes: T1, N0, M0. T1: Tumor invades subepithelial connective tissue. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C1336451|Stage I includes: IA (T1, N0, M0, G1, G2, GX); IB (T2, N0, M0, G1, G2, GX); (T3, N0, M0, G1, G2, GX). T1: Tumor 8 cm or less in greatest dimension. T2: Tumor more than 8 cm in greatest dimension. T3: Discontinuous tumors in the primary bone site. N0: No regional lymph node metastasis. M0: No distant metastasis. G1: Well differentiated-low grade. G2: Moderately differentiated-low grade. GX: Grade cannot be assessed. (AJCC 7th ed.)|NCI|N|
C1336455|Ann Arbor Classification: Stage I: Involvement of a single lymph node region (I); or localized involvement of a single extralymphatic organ or site in the absence of any lymph node involvement (IE).|NCI|N|
C1336458|Stage I includes: pT1-4, N0, M0, SX. pT1: Tumor limited to the testis and epididymis without vascular/lymphatic invasion; tumor may invade into the tunica albuginea but not the tunica vaginalis. pT2: Tumor limited to the testis and epididymis with vascular/lymphatic invasion, or tumor extending through the tunica albuginea with involvement of the tunica vaginalis. pT3: Tumor invades the spermatic cord with or without vascular/lymphatic invasion. pT4: Tumor invades the scrotum with or without vascular/lymphatic invasion. N0: No regional lymph node metastasis. M0: No distant metastasis. SX: Marker studies not available or not performed. (AJCC 6th and 7th eds.)|NCI|N|
C1336461|Stage I includes: T1, N0, M0. T1: Tumor 2 cm or less in greatest dimension. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C1336462|Stage I carcinoma of the liver according to the American Joint Committee on Cancer, 6th, 7th, and 8th editions.|NCI|N|
C1336463|Ann Arbor Classification: Stage I: Involvement of a single lymph node region (I); or localized involvement of a single extralymphatic organ or site in the absence of any lymph node involvement (IE) (rare in Hodgkin lymphoma).|NCI|N|
C1336464|Ann Arbor Classification: Stage I: Involvement of a single lymph node region (I); or localized involvement of a single extralymphatic organ or site in the absence of any lymph node involvement (IE).|NCI|N|
C1336466|Stage I includes: T1, N0, M0. T1:Tumor restricted to any one subsite, with or without bony invasion. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C1336467|Localized tumor with complete gross excision, with or without microscopic residual disease; representative ipsilateral lymph nodes negative for tumor microscopically. (cancer.gov)|NCI|N|
C1336468|Ann Arbor Classification: Stage I: Involvement of a single lymph node region (I); or localized involvement of a single extralymphatic organ or site in the absence of any lymph node involvement (IE) (rare in Hodgkin lymphoma).|NCI|N|
C1336470|Stage I includes: T1, N0, M0. T1: Tumor 2 cm or less in greatest dimension. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C1336471|Stage I includes: IA (T1, N0, M0, G1, G2, GX); IB (T2, N0, M0, G1, G2, GX); (T3, N0, M0, G1, G2, GX). T1: Tumor 8 cm or less in greatest dimension. T2: Tumor more than 8 cm in greatest dimension. T3: Discontinuous tumors in the primary bone site. N0: No regional lymph node metastasis. M0: No distant metastasis. G1: Well differentiated-low grade. G2: Moderately differentiated-low grade. GX: Grade cannot be assessed. (AJCC 7th ed.)|NCI|N|
C1336472|Stage I includes: (T1, N0, M0). T1: Tumor limited to ovaries (one or both). N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th Eds.)|NCI|N|
C1336473|Stage I includes: (T1, N0, M0). T1: Tumor limited to ovaries (one or both). N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th Eds.)|NCI|N|
C1336474|Stage I includes: (T1, N0, M0). T1: Tumor limited to ovaries (one or both). N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th Eds.)|NCI|N|
C1336475|Stage I includes: T1, N0, M0. T1: Maxillary sinus: Tumor limited to the maxillary sinus mucosa with no erosion or destruction of bone. Ethmoid sinus: Tumor restricted to any one subsite, with or without bony invasion. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C1336476|Stage I includes: (T1, N0, M0); IA: (T1a, N0, M0); IB: (T1b, N0, M0). T1: Pleural mesothelioma with a tumor limited to the ipsilateral parietal pleura with or without mediastinal pleura and with or without diaphragmatic pleural involvement. T1a: Pleural mesothelioma with no involvement of the visceral pleura. T1b: Pleural mesothelioma with a tumor also involving the visceral pleura N0: No regional lymph metastasis. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C1336477|Stage I includes: T1, M0, M0. T1: Tumor invades subepithelial connective tissue. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C1336478|Stage I includes: T1, N0, M0. T1: Tumor invades subepithelial connective tissue. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C1336481|Stage I includes: T1, N0, M0. T1: Tumor 2 cm or less in greatest dimension with less than two high-risk features. High-risk features for the primary tumor staging are defined as follows: depth/invasion of more than 2 mm thickness, Clark level equal or greater than IV, and perineural invasion. Anatomic location: primary site ear and primary site non-hair-bearing lip. Differentiation: poorly differentiated or undifferentiated. N0: No regional lymph node metastasis. M0: No clinical or radiographic evidence of distant metastasis. (AJCC 7th ed.)|NCI|N|
C1336482|Stage I includes: IA: (T1a, N0, M0); (T1b, N0, M0) and IB: (T2a, N0, M0). T1a: Lung cancer with a tumor size of 2 cm or less n greatest dimension, surrounded by lung or visceral pleura and without bronchoscopic evidence of invasion more proximal than the lobar bronchus (i.e., not in the main bronchus). The uncommon superficial tumor of any size with its invasive component limited to the bronchial wall, which may extend proximal to the main bronchus, is also classified as T1a. T1b: Lung cancer with a tumor size more than 2 cm but 3 cm or less in greatest dimension, surrounded by lung or visceral pleura and without bronchoscopic evidence of invasion more proximal than the lobar bronchus (i.e., not in the main bronchus). T2a: Lung cancer with a tumor size more than 3 cm but 5 cm or less in greatest dimension. N0: No regional lymph metastasis. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C1336483|Stage I includes: IA (T1a, N0, M0, G1, GX); (T1b, N0, M0, G1, GX); IB (T2a, N0, M0, G1, GX); (T2b, N0, M0, G1, GX). T1a: Superficial tumor 5 cm or less in greatest dimension. T1b: Deep tumor 5 cm or less in greatest dimension. T2a: Superficial tumor more than 5 cm in greatest dimension. T2b: Deep tumor more than 5 cm in greatest dimension. N0: No regional lymph node metastasis. M0: No distant metastasis. G1: Grade 1. GX: Grade cannot be assessed. (AJCC 7th ed.)|NCI|N|
C1336489|Stage I includes: pT1-4, N0, M0, SX. pT1: Tumor limited to the testis and epididymis without vascular/lymphatic invasion; tumor may invade into the tunica albuginea but not the tunica vaginalis. pT2: Tumor limited to the testis and epididymis with vascular/lymphatic invasion, or tumor extending through the tunica albuginea with involvement of the tunica vaginalis. pT3: Tumor invades the spermatic cord with or without vascular/lymphatic invasion. pT4: Tumor invades the scrotum with or without vascular/lymphatic invasion. N0: No regional lymph node metastasis. M0: No distant metastasis. SX: Marker studies not available or not performed. (AJCC 6th and 7th eds.)|NCI|N|
C1336491|Stage I includes: T1, N0, M0. T1: Tumor size 2 cm or less in greatest dimension, limited to the thyroid gland. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C1336492|Stage I includes: T1, N0, M0. T1: Tumor invades subepithelial connective tissue. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C1336493|Stage I includes: T1, N0, M0. T1: Tumor invades subepithelial connective tissue. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C1336494|Stage I includes: T1a, N0, M0. T1a: Iris: Tumor limited to the iris not more than 3 clock hours in size. Ciliary body and choroid: Tumor size category 1 without ciliary body involvement and extraocular extension. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C1336501|An uncommon benign cartilaginous neoplasm arising from the sternum. It is characterized by the presence of spindle-shaped or stellate chondrocytes, a lobulated growth pattern, myxoid stroma formation, and sometimes multinucleated giant cells.|NCI|N|
C1336502|A non-neoplastic or neoplastic disorder that affects the sternum.|NCI|N|
C1336503|A rare schwannoma that arises from the sternum.|NCI|N|
C1336504|A rare lymphoma that arises from the bone or soft tissue of the sternum.|NCI|N|
C1336506|A neoplastic process characterized by a diffuse poorly circumscribed overgrowth of adipose tissue in the face, upper middle back, and sternal region. It is associated with adrenocortical steroid therapy or an increase in endogenous adrenocortical hormone.|NCI|N|
C1336515|A term referring to the presence of tumor emboli or tumor masses within the stroma of an organ.|NCI|N|
C1336518|A hemangioma, a benign tumor of the vascular endothelial cells, located in the airway, typically below the vocal chords, that can cause severe obstruction of the airway.|HPO|N|
C1336519|An adenocarcinoma that arises from the sublingual gland.|NCI|N|
C1336520|An adenocarcinoma with serous acinar cell differentiation that arises from the submandibular gland.|NCI|N|
C1336521|An adenocarcinoma that arises from the submandibular gland. Representative examples include polymorphic low-grade adenocarcinoma and acinic cell carcinoma.|NCI|N|
C1336522|An aggressive carcinoma that arises from the submandibular gland. It is characterized by the presence of malignant epithelial and myoepithelial cells forming cribriform, tubular, and solid patterns. It usually presents as a slow growing mass. Patients develop pain because of the tendency of these carcinomas to invade perineural tissues.|NCI|N|
C1336523|A carcinoma that arises from a pleomorphic adenoma in the submandibular gland. Patients usually present with a history of a long-standing tumor mass which grew rapidly in the past few months. Patients with non-invasive or minimally invasive carcinoma have an excellent prognosis. In cases where there is invasion of the surrounding tissues, the clinical course is aggressive.|NCI|N|
C1336524|A carcinoma that arises from the submandibular gland. It usually presents as a firm and painless mass. It is characterized by the presence of epidermoid cells, mucus producing cells, and cells of intermediate type. The majority of cases have a favorable outcome.|NCI|N|
C1336525|An invasive squamous cell carcinoma that arises from the submandibular gland. It usually affects elderly patients and presents as a rapidly enlarging tumor mass, often associated with pain.|NCI|N|
C1336526|A carcinoma that arises from the submandibular gland and is characterized by the presence of undifferentiated, anaplastic malignant epithelial cells.|NCI|N|
C1336527|An infiltrating carcinoma of the bladder that has not invaded into the bladder muscularis propria.|NCI|N|
C1336528|A lesion with limited invasion of deeper tissues.|NCI|N|
C1336529|A carcinoma originating from the apical lung. Most superior sulcus lung carcinomas are bronchogenic carcinomas. This carcinoma may be associated with Pancoast syndrome. lt is also known as Pancoast tumor.|NCI|N|
C1336530|A malignant vascular neoplasm arising from the superior vena cava.|NCI|N|
C1336531|An aggressive malignant smooth muscle neoplasm, arising from the superior vena cava. It is characterized by a proliferation of neoplastic spindle cells.|NCI|N|
C1336532|Blockage of blood flow through the superior vena cava (SVC). Because the venous drainage from the upper extremities, upper thorax and head is obstructed, SVC obstruction presents with symptoms related to engorgement of these areas. Both the degree of SVC compromise and the extent of collateral veins determine the varied clinical presentation, which can be as mild as slight facial and upper extremity edema or as dire as intracranial swelling, seizures, hemodynamic instability and tracheal obstruction.|HPO|N|
C1336535|A meningioma that arises from the suprasellar region.|NCI|N|
C1336536|A glioblastoma that occurs in the supratentorial region.|NCI|N|
C1336537|A meningioma that affects the supratentorial brain.|NCI|N|
C1336538|A central nervous system embryonal tumor, not otherwise specified arising from the supratentorial region.|NCI|N|
C1336543|A benign tumor derived from schwann cells of the peripheral sympathetic nervous system, including the sympathetic plexus.|NCI|N|
C1336544|A bone osteosarcoma affecting multiple skeletal sites, with multifocal lesions discovered within 6 months of the appearance of the initial tumor. It has a poor prognosis.|NCI|N|
C1336546|A rare hemangioma arising from synovium lining surfaces.|NCI|N|
C1336548|An anaplastic large cell lymphoma that is not confined to a single anatomic site and involves multiple nodal and/or extranodal sites.|NCI|N|
C1336550|A T-cell lymphoproliferative disorder with uncertain malignant potential. A representative example is lymphomatoid papulosis.|NCI|N|
C1336551|A T-cell prolymphocytic leukemia characterized by the presence of neoplastic prolymphocytes with irregular or cerebriform nuclear outline.|NCI|N|
C1336552|A T-cell prolymphocytic leukemia characterized by the presence of small neoplastic prolymphocytes often with invisible nucleolus by light microscopy.|NCI|N|
C1336554|A group of neoplasms composed of T-lymphocytes and/or NK-cells.|NCI|N|
C1336695|A morphologic variant of papillary carcinoma of the thyroid gland characterized by the presence of tall malignant follicular cells, arranged in papillary and trabecular patterns. Necrotic changes and high mitotic activity are present.|NCI|N|
C1336699|A glomus tumor characterized by huge vascular channel formations.|NCI|N|
C1336703|A benign tumor, composed of mature adipocytes, that arises within the tendon sheath.|NCI|N|
C1336704|A central nervous system teratoma characterized by the presence of a malignant component. The malignant component most often is sarcomatous (rhabdomyosarcoma or undifferentiated sarcoma) or carcinomatous (squamous cell carcinoma or adenocarcinoma).|NCI|N|
C1336705|A rare, usually well-differentiated neuroendocrine tumor that arises from the testis. It usually affects adults, and a minority of patients have carcinoid syndrome. It may be pure or less frequently associated with a testicular teratoma. The majority of cases are not associated with isochromosome 12p or germ cell neoplasia in situ. The clinical course is usually benign.|NCI|N|
C1336706|A mature teratoma that arises from the testis and is characterized by the presence of one or more cysts. The cysts are lined by squamous epithelium and contain skin appendages. Other teratomatous components may or may not be present.|NCI|N|
C1336708|Testicular germ cell tumors (TGCTs) affect 1 in 500 men and are the most common cancer in males aged 15 to 40 in western European populations. The incidence of TGCT rose dramatically during the 20th century. Known risk factors for TGCT include a history of undescended testis (UDT), testicular dysgenesis, infertility, previously diagnosed TGCT, and a family history of the disease. Brothers of men with TGCT have an 8- to 10-fold risk of developing TGCT, whereas the relative risk to fathers and sons is 4-fold. This familial relative risk is much higher than that for most other types of cancer (summary by Rapley et al., 2000).
Genetic Heterogeneity of Testicular Germ Cell Tumors
A locus for testicular germ cell tumors (TGCT1; 300228) has been identified on chromosome Xq27.|OMIM|N|
C1336709|A rare sex cord-stromal tumor that arises from the testis. It is characterized by the presence of granulosa-like cells and Call-Exner bodies. There are two variants described, the adult and the juvenile.|NCI|N|
C1336710|A malignant neoplasm that arises from the testis and is characterized by the presence of large germ cells with abundant cytoplasm in the seminiferous tubules, associated with an invasive germ cell tumor in the adjacent tissues.|NCI|N|
C1336711|A myeloid or more commonly lymphoid leukemia (acute or chronic) affecting the testis. Microscopically, there is interstitial infiltration of the testis by leukemic cells. Acute lymphoblastic leukemia with testicular involvement is not uncommon in boys. Sometimes (up to 10% of the cases), testicular involvement may be the initial manifestation of relapsed acute lymphoblastic leukemia. --03|NCI|N|
C1336712|A malignant mixed germ cell tumor that arises from the testis and is characterized by the presence of choriocarcinoma and embryonal carcinoma morphologic components.|NCI|N|
C1336713|A malignant germ cell tumor arising from the testis. It is characterized by a mixture of choriocarcinoma and seminomatous morphologic elements. Patients may present with painless or painful testicular swelling.|NCI|N|
C1336714|A malignant mixed germ cell tumor arising from the testis. It is characterized by the presence of a teratomatous component and malignant syncytiotrophoblastic cells.|NCI|N|
C1336715|A malignant mixed germ cell tumor arising from the testis. It is characterized by the presence of a mixture of embryonal carcinoma and a seminomatous component.|NCI|N|
C1336716|A malignant mixed germ cell tumor arising from the testis, characterized by the presence of an embryonal carcinomatous component and a teratomatous component.|NCI|N|
C1336717|A malignant mixed germ cell tumor arising from the testis. It is characterized by the presence of a mixture of embryonal carcinoma, a teratomatous component, and a seminomatous component.|NCI|N|
C1336718|A malignant non-seminomatous germ cell tumor arising from the testis. It is characterized by a mixture of embryonal carcinoma and yolk sac morphologic elements. Patients may present with painless or painful testicular swelling.|NCI|N|
C1336719|A tumor that arises from the testis and is characterized by the presence of a neoplastic germ cell component and a neoplastic sex cord-stromal component.|NCI|N|
C1336720|A malignant germ cell tumor that arises from the testis and is characterized by the presence of more than one histologic component. Representative examples include mixed choriocarcinoma and embryonal carcinoma, mixed embryonal carcinoma and seminoma, and mixed yolk sac tumor and teratoma.|NCI|N|
C1336721|A malignant non-seminomatous germ cell tumor arising from the testis. It is characterized by a mixture of yolk sac and teratomatous morphologic elements. Patients may present with painless or painful testicular swelling.|NCI|N|
C1336722|A malignant germ cell tumor arising from the testis. It is characterized by a mixture of yolk sac, teratomatous, and seminomatous morphologic elements. Patients may present with painless or painful testicular swelling.|NCI|N|
C1336723|A non-neoplastic disorder that affects the testis. Representative examples include infection, torsion, and infarction.|NCI|N|
C1336726|A malignant mesenchymal tumor with skeletal muscle differentiation affecting the testis.|NCI|N|
C1336727|A sarcoma that arises from the testis. The majority of cases arise from teratomas or spermatocytic seminomas.|NCI|N|
C1336729|A testicular teratoma associated with a distinct secondary component that resembles a somatic-type malignant neoplasm (e.g., carcinoma or sarcoma).|NCI|N|
C1336734|A group of neoplasms that arise from the ovary and represent a spectrum of tumors ranging from neoplasms that are composed entirely of fibroblasts to those that are composed predominantly of theca cells.|NCI|N|
C1336735|An acute myeloid leukemia arising as a result of the mutagenic effect of chemotherapy agents and/or ionizing radiation. (WHO, 2001)|NCI|N|
C1336738|A meningioma that arises from the meninges of the thoracic region of the spinal cord.|NCI|N|
C1336739|Exposure to thorotrast, which contains particles of the radioactive compound thorium dioxide, as a radiocontrast agent. It is a carcinogenic compound, linked to the development of bile duct cancer, leukemia, and angiosarcoma.|NCI|N|
C1336743|A rare primary thymic carcinoma, characterized by the presence of carcinoma cells with glandular differentiation.|NCI|N|
C1336744|A well-circumscribed tumor of the thymus composed of islands of normal thymic parenchyma and mature adipose tissue. It is not clear if thymolipoma is a neoplastic or non-neoplastic lesion.|NCI|N|
C1336745|A lymphoma that arises from the thymus. Representative examples include mediastinal (thymic) large B-cell lymphoma and Hodgkin lymphoma.|NCI|N|
C1336746|A primary thymic neuroendocrine tumor.|HPO|N|
C1336748|A usually aggressive malignant vascular tumor primarily involving the thyroid gland. It is often associated with longstanding nodular goiter.|NCI|N|
C1336749|A diffuse large B-cell lymphoma primarily involving the thyroid gland.|NCI|N|
C1336750|A kind of thyroid adenoma characterized by the presence of oxyphil cells.|HPO|N|
C1336751|A rare, circumscribed or encapsulated tumor arising from the follicular cells of the thyroid gland. It is characterized by a trabecular growth pattern and hyalinized stroma formation. The vast majority of cases have a benign clinical course.|NCI|N|
C1336752|A diffuse large B-cell lymphoma variant, primarily involving the thyroid gland. It is composed predominantly of immunoblasts.|NCI|N|
C1336753|A rare primary organ-specific lymphoma characterized by primary origin in the thyroid gland, sometimes involving cervical lymph nodes, and infrequently more distant sites. Diffuse large B-cell lymphoma is most common, followed by MALT lymphoma, and follicular lymphoma. More rare types include T-cell lymphomas, Burkitt lymphoma, or classic Hodgkin lymphoma. The condition is usually associated with Hashimoto thyroiditis. Patients typically present with a mass in the thyroid, with or without cervical lymphadenopathy. Hoarseness and dyspnea may occur, while constitutional symptoms are rare. Prognosis is favorable for patients with localized tumors.|ORDO|N|
C1336754|An extranodal marginal zone B-cell lymphoma arising from mucosa-associated lymphoid tissue in the thyroid gland. The vast majority of cases are associated with chronic lymphocytic thyroiditis.|NCI|N|
C1336755|A non-Hodgkin lymphoma primarily involving the thyroid gland. The vast majority of cases are either diffuse large B-cell lymphomas or extranodal marginal zone B-cell lymphomas of mucosa-associated lymphoid tissue. Hashimoto (chronic lymphocytic) thyroiditis is almost always present.|NCI|N|
C1336756|A malignant mesenchymal neoplasm primarily involving the thyroid gland.|NCI|N|
C1336764|A benign adipose tissue neoplasm of the tonsils.|NCI|N|
C1336765|A primary lymphoma that affects the tonsil and the bulk of the tumor is in this anatomic area. The majority of cases are B-cell non-Hodgkin lymphomas.|NCI|N|
C1336766|A non-keratinizing carcinoma arising from the tonsil. It is characterized by the presence of large malignant cells with vesicular nuclei, prominent nucleoli, syncytial growth pattern, and a lymphoplasmacytic infiltrate.|NCI|N|
C1336769|Acute myeloid leukemias arising as a result of the mutagenic effect of therapeutic agents targeting DNA-topoisomerase II. The vast majority of patients present without a preceding myelodysplastic phase. The acute myeloid leukemias are usually of the monoblastic or myelomonocytic type. Clonal cytogenetic abnormalities are frequently present and usually involve chromosome 11q23 (MLL gene).|NCI|N|
C1336770|A microscopic finding indicating that the neoplastic cells are arranged in trabeculae in a tumor sample.|NCI|N|
C1336772|A benign smooth muscle neoplasm arising from the trachea. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.|NCI|N|
C1336773|A rare lymphoma that arises from the trachea. Signs and symptoms include dyspnea, cough, wheezing, and stridor.|NCI|N|
C1336774|A rare malignant soft tissue neoplasm that arises from the trachea.|NCI|N|
C1336808|A carcinoma that arises in a patient with a history of organ transplantation.|NCI|N|
C1336810|A hematologic malignancy that arises in a patient with a history of organ transplantation.|NCI|N|
C1336811|A hepatocellular carcinoma that arises in a patient with a history of organ transplantation.|NCI|N|
C1336812|A Kaposi sarcoma that arises in a patient with a history of organ transplantation.|NCI|N|
C1336813|A lung carcinoma that arises in a patient with a history of organ transplantation.|NCI|N|
C1336814|A malignant neoplasm that arises in a patient with a history of organ transplantation.|NCI|N|
C1336815|A renal cell carcinoma that arises in a patient with a history of organ transplantation.|NCI|N|
C1336816|A squamous cell carcinoma that arises from the skin in a patient with a history of organ transplantation.|NCI|N|
C1336817|A bladder urothelial carcinoma that arises in a patient with a history of organ transplantation.|NCI|N|
C1336819|A well differentiated, low grade neuroendocrine neoplasm (carcinoid tumor) that arises from the transverse colon. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent.|NCI|N|
C1336823|A cutaneous myxoma arising from the hair follicle.|NCI|N|
C1336827|Infectious and parasitic diseases endemic in tropical and subtropical zones, including Chagas'' disease, leishmaniasis, leprosy, malaria, onchocerciasis, schistosomiasis, sleeping sickness, yellow fever, and others; often water- or insect-borne.|NCI|N|
C1336828|An increase in gross volume and weight of the thymus gland, with maintenance of normal lobular architecture, and preservation of corticomedullary differentiation.|NCI|N|
C1336829|A meningioma that arises from the tuberculum sellae.|NCI|N|
C1336833|A morphological appearance characteristic of neoplasms which arise from the glandular or ductal (or both) epithelium, consisting of glandular or ductal neoplastic proliferations forming small tubules with a lumen lined by neoplastic cells.|NCI|N|
C1336835|A morphologic finding that indicates the presence of cells undergoing necrosis within a tumor.|NCI|N|
C1336839|Hereditary papillary renal cell carcinoma is characterized by the development of multiple, bilateral papillary renal tumors (Zbar et al., 1995). The transmission pattern is consistent with autosomal dominant inheritance with incomplete penetrance.
Papillary renal cell carcinoma is histologically and genetically distinct from 2 other forms of inherited renal carcinoma, von Hippel Lindau disease (193300), caused by mutation in the VHL gene (608537) on chromosome 3, and a form associated with the chromosome translocation t(3;8), as described by Cohen et al. (1979). Bodmer et al. (2002) reviewed the molecular genetics of familial and nonfamilial cases of renal cell carcinoma, including the roles of VHL, MET, and translocations involving chromosomes 1, 3, and X.
For background information and a discussion of genetic heterogeneity of nonpapillary renal cell carcinoma, see RCC (144700).
See also a hereditary syndrome of predisposition to uterine leiomyomas and papillary renal cell carcinoma (HLRCC; 150800) caused by germline mutation in the FH gene (136850).|OMIM|N|
C1336840|A type of papillary renal cell carcinoma in which the papillae are covered by large eosinophilic cells with pleomorphic nuclei, prominent nucleoli, and nuclear pseudostratification.|HPO|N|
C1336841|A variant of lymphomatoid papulosis characterized by the presence of scattered anaplastic large lymphocytes, often resembling Reed-Sternberg cells, admixed with acute and chronic inflammatory cells.|NCI|N|
C1336842|A variant of lymphomatoid papulosis characterized by an epidermotropic infiltrate composed of small atypical cerebriform-like lymphocytes.|NCI|N|
C1336851|The protrusion of contents of the abdominal cavity through the abdominal wall, at the site of the umbilicus, which results in obstruction, without mention of necrosis of the herniated contents.|NCI|N|
C1336853|A renal cell carcinoma characterized by morphologic features that do not fit easily into one of the other well-defined categories of renal cell carcinoma. Examples of such features include mixtures of morphologic patterns, mucin production, and sarcomatoid morphology.|NCI|N|
C1336856|A carcinoma without evidence of differentiation arising from the extrahepatic bile ducts.|NCI|N|
C1336857|An invasive carcinoma arising from the fallopian tube. It is characterized by the presence of a diffuse malignant infiltrate that is composed of epithelial cells without evidence of glandular or squamous differentiation.|NCI|N|
C1336858|Undifferentiated carcinoma of stomach is a rare epithelial tumour of the stomach that lacks any features of differentiation beyond an epithelial phenotype. The presenting symptoms are usually vague and nonspecific, such as weight loss, anorexia, fatigue, epigastric pain and discomfort, heartburn and nausea, vomiting or hematemesis. Patients may also be asymptomatic. Ascites, jaundice, intestinal obstruction and peripheral lymphadenopathy indicate advanced stages and metastatic spread.|ORDO|N|
C1336860|A neoplasm that has minimal to no differentiating features.|NCI|N|
C1336861|A carcinoma with poor prognosis that arises from the pancreas. It is characterized by the presence of a significant malignant component that does not show differentiation. The malignant cells represent a mixture of large, pleomorphic cells and giant cells, or adenocarcinoma cells and spindle cells, or spindle cells.|NCI|N|
C1336862|A carcinoma that arises from the parotid gland and is characterized by the presence of undifferentiated, anaplastic malignant epithelial cells.|NCI|N|
C1336863|An invasive prostate carcinoma characterized by the presence of undifferentiated malignant cells.|NCI|N|
C1336864|An invasive malignant epithelial tumor that arises from the rectum. There is no morphologic, immunophenotypic, or molecular biological evidence of glandular or squamous differentiation.|NCI|N|
C1336865|A rare primary thymic carcinoma, characterized by an undifferentiated solid tumor growth, without associated sarcomatoid features.|NCI|N|
C1336866|Undifferentiated carcinoma that affects the ureter.|NCI|N|
C1336867|An undifferentiated carcinoma arising from the urethra.|NCI|N|
C1336868|An ovarian cyst without septa and a solid component.|HPO|N|
C1336869|A malignant neoplasm which is not amenable to surgical resection.|NCI|N|
C1336871|A meningioma that affects the upper clivus.|NCI|N|
C1336872|A verrucous carcinoma of the oral cavity that arises from the upper gingiva.|NCI|N|
C1336873|Adenocarcinoma that affects the ureter.|NCI|N|
C1336874|An endophytic urothelial neoplasm arising from the ureter. It shares several morphologic features with urothelial papilloma.|NCI|N|
C1336875|A benign smooth muscle neoplasm arising from the ureter. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.|NCI|N|
C1336876|A lymphoma involving the ureter.|NCI|N|
C1336877|A benign nerve sheath tumor composed of Schwann cells, occurring in the ureter.|NCI|N|
C1336878|A rare small cell neuroendocrine carcinoma that arises from the ureter.|NCI|N|
C1336879|A rare squamous cell carcinoma that arises from the ureter.|NCI|N|
C1336880|An invasive urothelial carcinoma of the ureter that exhibits glandular differentiation.|NCI|N|
C1336882|An invasive urothelial carcinoma of the ureter that exhibits squamous differentiation.|NCI|N|
C1336883|A sexually transmitted papillary neoplasm that arises from the epithelial surface of the urethra, and caused by the human papillomavirus.|NCI|N|
C1336884|A benign polypoid lesion of mesodermal origin that arises from the urethra.|NCI|N|
C1336885|An adenocarcinoma that arises from the male or female urethra.|NCI|N|
C1336886|A morphologic variant of urethral adenocarcinoma characterized by the presence of tubulocystic or papillary structures lined with clear cuboidal or hobnail cells.|NCI|N|
C1336887|An endophytic urothelial neoplasm arising from the urethra. It shares several morphologic features with urothelial papilloma.|NCI|N|
C1336888|A benign smooth muscle neoplasm arising from the urethra. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.|NCI|N|
C1336889|A metaplastic lesion of the urothelium found in the urethra. It is characterized by the presence of aggregates of cuboidal or hobnail cells and represents a reaction of the urothelium to injury caused by instrumentation, surgery or calculi.|NCI|N|
C1336890|A well differentiated, moderately differentiated, or poorly differentiated squamous cell carcinoma that arises from the male or female urethra.|NCI|N|
C1336891|A multinodular intermediate fibroblastic neoplasm arising from the bladder. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes and plasma cells.|NCI|N|
C1336892|A metaplastic lesion of the urothelium found in the urinary bladder. It is characterized by the presence of aggregates of cuboidal or hobnail cells and represents a reaction of the urothelium to injury caused by instrumentation, surgery or calculi.|NCI|N|
C1336893|An exophytic glandular neoplasm of the bladder, morphologically similar to its intestinal counterpart. It often coexists with in situ or infiltrating bladder adenocarcinoma.|NCI|N|
C1336894|An extra-adrenal paraganglioma that arises from the urinary system.|NCI|N|
C1336895|Hyperplasia of the transitional epithelium of the urinary tract. Morphologically it is subdivided into flat and papillary hyperplasia. -- 2003|NCI|N|
C1336899|A malignant vascular neoplasm arising from the uterus.|NCI|N|
C1336900|A papilloma that arises from the squamous epithelium of the cervix.|NCI|N|
C1336901|A usually polypoid, benign neoplasm that arises from the endometrial cavity. It is characterized by the presence of a mesenchymal core component and an epithelial component that forms a lining on the mesenchymal core.|NCI|N|
C1336902|A benign mesothelial neoplasm that arises from the uterine body. It is characterized by the presence of gland-like structures.|NCI|N|
C1336903|A usually polypoid, benign neoplasm that arises from the uterine corpus. It is characterized by the presence of benign epithelial glands embedded in benign fibromyomatous tissue.|NCI|N|
C1336904|An aggressive malignant tumor arising from trophoblastic cells in the uterus during pregnancy. Approximately half of the cases develop from a complete hydatidiform mole. There is often marked elevation of human chorionic gonadotropin (hCG) in the blood. Choriocarcinomas disseminate rapidly through the hematogenous route; the lungs are most frequently affected.|NCI|N|
C1336905|A primary endometrial adenocarcinoma composed of neoplastic cells that form complex glandular patterns associated with budding and branching of the neoplastic glands. The neoplastic glands resemble those of the normal endometrium and may or may not be associated with sheet-like proliferation of malignant cells. Endometrioid adenocarcinoma is the most commonly seen morphologic variant of endometrial adenocarcinoma.|NCI|N|
C1336908|A morphologic variant of endometrioid adenocarcinoma characterized by the presence of large multinucleated clear cells.|NCI|N|
C1336913|A primary endometrioid adenocarcinoma of the endometrium characterized by the presence of spindled malignant epithelial cells.|NCI|N|
C1336915|A primary endometrioid adenocarcinoma of the endometrium characterized by the presence of a component with poorly differentiated carcinoma cells.|NCI|N|
C1336916|A primary endometrioid adenocarcinoma of the endometrium characterized by the presence of a component with undifferentiated malignant cells.|NCI|N|
C1336917|A rare subtype of mixed epithelial-mesenchymal tumor, often presenting as a large, exophytic polypoid lesion, which may extend through the cervix, composed of benign or atypical epithelium and low-grade malignant stroma. It usually presents with dysfunctional bleeding or vaginal discharge and less often abdominal pain. Association with long-term unopposed estrogen therapy, tamoxifen therapy and a history of pelvic radiation has been reported.|ORDO|N|
C1336918|A non-neoplastic disorder that affects the uterine corpus. Representative examples include endometritis and uterine adenomyosis.|NCI|N|
C1336920|A non-neoplastic disorder that affects the uterine corpus or the cervix. Representative examples include endometritis, uterine adenomyosis, and cervicitis.|NCI|N|
C1336922|A Burkitt lymphoma with plasmacytoid differentiation occurring in HIV-positive patients.|NCI|N|
C1336924|A Kaposi sarcoma arising from the cervix in patients who are infected with the human immunodeficiency virus.|NCI|N|
C1336925|A Kaposi sarcoma arising from the stomach in patients who are infected with the human immunodeficiency virus.|NCI|N|
C1336939|A benign smooth muscle neoplasm arising from the vagina. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.|NCI|N|
C1336940|An aggressive malignant smooth muscle neoplasm, arising from the vagina. It is characterized by a proliferation of neoplastic spindle cells.|NCI|N|
C1336941|A non-neoplastic disorder that affects the vagina. Representative examples include vaginal infection and vaginal fibroepithelial polyp.|NCI|N|
C1336942|A rare benign polypoid skeletal muscle neoplasm arising from the vagina. It is characterized by the presence of round striated muscle cells and strap-like skeletal muscle cells, and vascular space formations within a fibrous and myxoid stroma.|NCI|N|
C1336943|A benign papillary neoplasm that arises from the vagina and is characterized by the presence of a fibrovascular stalk lined by normal squamous epithelium. There is no evidence of atypia or relation to human papillomavirus.|NCI|N|
C1336944|A squamous cell carcinoma that arises from the vagina and is characterized by a papillary growth pattern, acanthotic epithelium with minimal or absent atypia, and pushing borders.|NCI|N|
C1336945|A rare yolk sac tumor that arises from the vagina.|NCI|N|
C1336946|A benign, intermediate, or malignant vascular neoplasm that arises from the bone.|NCI|N|
C1336947|A benign or malignant vascular neoplasm that arises from the breast.|NCI|N|
C1336950|An aggressive malignant smooth muscle neoplasm, arising from the walls of the vascular system. It is characterized by a proliferation of neoplastic spindle cells.|NCI|N|
C1336954|The protrusion of contents of the abdominal cavity through the abdominal wall, at the site of the linea alba, which results in obstruction, without mention of necrosis of the herniated contents.|NCI|N|
C1336955|A slow growing, locally recurring, very well differentiated papillary squamous cell carcinoma that arises from the penis. It is characterized by the presence of acanthosis and hyperkeratosis. The neoplastic infiltrate extends into the underlying stroma with a pushing border. Koilocytotic atypia is not present.|NCI|N|
C1336956|A morphologic architectural pattern in which the tumor cells spread vertically.|NCI|N|
C1336962|A primary endometrioid adenocarcinoma of the endometrium characterized by the presence of numerous finger-like villi lined by neoplastic columnar cells.|NCI|N|
C1336964|A morphological appearance resembling the villi seen on the mucosa of the small bowel|NCI|N|
C1336967|Carcinoma that develops in the context of an individual infected with a virus.|NCI|N|
C1336968|Lymphoma that is caused by a virus infection.|NCI|N|
C1336969|A sarcoma that is caused by a virus.|NCI|N|
C1336971|An astrocytoma that affects the visual pathway. This condition can be seen in association with neurofibromatosis 1. It is most commonly seen in the pediatric age group.|NCI|N|
C1336972|A meningioma that affects the visual pathway.|NCI|N|
C1336973|A benign or malignant neoplasm that affects the optic tract.|NCI|N|
C1336975|An adenocarcinoma arising in the vulva.|HPO|N|
C1336977|A rare vulvar carcinoma characterized by a slowly growing ulcer or nodule which is histologically composed of demarcated nests of palisaded basal cells originating at the epidermal-dermal junction. Occasionally, the tumor may be extensively pigmented. Patients most commonly present with pruritus. The lesion is usually treated by local excision, although groin metastases have been reported.|ORDO|N|
C1336978|A polypoid lesion that arises from the vulva and is characterized by the presence of fibrovascular stroma lined by squamous epithelium. There is no evidence of epithelial atypia.|NCI|N|
C1336980|A non-neoplastic disorder that affects the vulva. Representative examples include infection and fibroepithelial polyp.|NCI|N|
C1336981|A benign squamous neoplasm that arises from the vulva. It is characterized by the proliferation of the basal cells in the squamous epithelium, acanthosis, hyperkeratosis, and cysts formation.|NCI|N|
C1336982|A benign papillary neoplasm that arises from the vulva and is characterized by the presence of a delicate fibrovascular stalk lined by squamous epithelium. There is no evidence of epithelial atypia.|NCI|N|
C1336983|A highly differentiated squamous cell carcinoma that arises from the vulva. It is characterized by the presence of a warty and hyperkeratinized surface, malignant cells with abundant eosinophilic cytoplasm, minimal cytologic atypia, and absence or rarity of mitotic figures. The tumor infiltrates the underlying stroma with a pushing border.|NCI|N|
C1337009|A squamous cell carcinoma that arises from the penis. It is characterized by a papillary growth pattern, hyperkeratosis and parakeratosis. Koilocytotic atypia is present. Human papillomavirus types 16 and 6 have been identified in some cases.|NCI|N|
C1337010|A well differentiated extraskeletal myxoid chondrosarcoma.|NCI|N|
C1337011|Pancreatic endocrine tumor, also known as pancreatic neuroendocrine tumor (PNET), describes a group of endocrine tumors originating in the pancreas that are usually indolent and benign, but may have the potential to be malignant. They can be functional, exhibiting a hormonal hypersecretion syndrome, but can be non-functional presenting with non-specific symptoms and include insulinoma, glucagonoma, VIPoma, somatostatinoma (SSoma), PPoma and Zollinger-Ellison syndrome (ZES, or gastrinoma) and other ectopic hormone producing tumors (such as GRFoma) (see these terms).|ORDO|N|
C1337012|A localized or multifocal mesothelial neoplasm arising from the peritoneum and less often the pleura and paratesticular region. Cases arising from the peritoneum predominantly occur in women. It is characterized by the formation of papillae, covered by a single layer of blunt mesothelial cells. Mitotic figures are not present. There is no evidence of severe cytologic atypia. It has a relatively favorable clinical outcome, compared to malignant mesothelioma.|NCI|N|
C1337013|A rare, slow-growing, epithelial thyroid carcinoma typically presenting as an asymptomatic thyroid mass and is classed as either papillary thyroid cancer (PTC), follicular thyroid cancer (FTC) or Hurthle cell thyroid cancer (HCTC).|ORDO|N|
C1337014|A low-grade chondrosarcoma characterized by the presence of moderate cellularity, hyperchromatic and plump nuclei of uniform size, and occasional binucleated cells. Mitotic figures are absent.|NCI|N|
C1337015|A well-differentiated malignant neoplasm arising from the deep soft tissues. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern.|NCI|N|
C1337016|Grade I malignant smooth muscle neoplasm. It is characterized by a proliferation of neoplastic spindle cells.|NCI|N|
C1337017|A lesion composed of cells that exhibit well differentiated features.|NCI|N|
C1337018|A malignant hemangiopericytoma with well-differentiated morphological features.|NCI|N|
C1337019|A neoplasm whose histologic characteristics are similar to the tissue from which it arose.|NCI|N|
C1337020|An invasive prostate adenocarcinoma characterized by the presence of well differentiated malignant glandular epithelial components.|NCI|N|
C1337035|Cholecystitis that is characterized by nodules containing lipid.|NCI|N|
C1337036|A group of renal cell carcinomas characterized by the presence of different translocations involving the chromosome Xp11.2. These translocations result in the creation of gene fusions involving the TFE3 gene. Patients are usually children and young adults. Morphologically, the malignant epithelial cells form papillary patterns.|NCI|N|
C1337040|A malignant germ cell tumor of the central nervous system composed of primitive-appearing epithelial cells - putatively representing yolk sac endoderm - set in a loose, variably cellular, and often conspicuously myxoid matrix, resembling extra-embryonic mesoblast. Eosinophilic hyaline globules immunoreactive for AFP are a diagnostic feature. (WHO)|NCI|N|
C1363945|Pre-clinical trials experiment conducted on the animal model with the goal to reduce cancer burden.|NCI|N|
C1366911|Cerebral cavernous malformations (CCMs) are vascular malformations in the brain and spinal cord comprising closely clustered, enlarged capillary channels (caverns) with a single layer of endothelium without mature vessel wall elements or normal intervening brain parenchyma. The diameter of CCMs ranges from a few millimeters to several centimeters. CCMs increase or decrease in size and increase in number over time. Hundreds of lesions may be identified, depending on the person's age and the quality and type of brain imaging used. Although CCMs have been reported in infants and children, the majority become evident between the second and fifth decades with findings such as seizures, focal neurologic deficits, nonspecific headaches, and cerebral hemorrhage. Up to 50% of individuals with FCCM remain symptom free throughout their lives. Cutaneous vascular lesions are found in 9% of those with familial cerebral cavernous malformations (FCCM; see Diagnosis/testing) and retinal vascular lesions in almost 5%.|GeneReviews|N|
C1366940|A permanent mark created by the insertion of pigment below the skin.|NCI|N|
C1367420|A rare low-grade malignant cutaneous or visceral vascular tumour that may be associated with severe thrombopaenia with consumption coagulopathy (Kasabach-Merritt syndrome) in pediatric patients.|ORDO|N|
C1367534|A benign mesenchymal neoplasm that usually arises in the superficial soft tissues of the vulva or inguinal and scrotal regions. It is characterized by the presence of a cellular fibroblastic proliferation in an edematous to fibrous stroma containing numerous vessels.|NCI|N|
C1367536|A benign but highly vascular nasopharyngeal neoplasm. The tumor originates from the sphenopalatine foramen and involves both the pterygopalatine fossa and the posterior nasal cavity.|HPO|N|
C1367539|A morphologic variant of angiofibroma characterized by the presence of multinucleated giant cells, collagenous or myxoid stroma, focal sclerotic areas, and angiectoid spaces.|NCI|N|
C1367652|An extranodal marginal zone lymphoma that arises from the lung. It is characterized by the neoplastic proliferation of small B-lymphocytes, monocytoid cells and cells with plasma cell differentiation in the marginal zones of reactive lymphoid follicles. The neoplastic cells infiltrate the interfollicular areas and the bronchial epithelium forming lymphoepithelial lesions. The neoplasm is usually discovered as a mass in a chest x-ray in asymptomatic patients. When symptoms occur, they include cough, dyspnea, hemoptysis, and chest pain. If the lung lesions are resectable, surgery can result in prolonged remission.|NCI|N|
C1367654|A usually indolent mature B-cell lymphoma, arising from the marginal zone of lymphoid tissues. It is characterized by the presence of small to medium sized atypical lymphocytes. It comprises three entities, according to the anatomic sites involved: extranodal marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue, which affects extranodal sites (most often stomach, lung, skin, and ocular adnexa); nodal marginal zone B-cell lymphoma, which affects lymph nodes without evidence of extranodal disease; and splenic marginal zone B-cell lymphoma, which affects the spleen and splenic hilar lymph nodes, bone marrow, and often the peripheral blood.|NCI|N|
C1367789|An adenocarcinoma arising from the sweat glands. Most cases present as nodular lesions on the digits, usually in the hands. It is characterized by the presence of epithelial cells in the dermis forming nodules. Cystic structures containing papillary projections are also present. It may recur and metastasize, most commonly to the lungs.|NCI|N|
C1367859|A WHO grade 2 or 3 pineal parenchymal neoplasm of intermediate-grade malignancy, affecting all ages. It is composed of diffuse sheets or large lobules of uniform cells with mild to moderate nuclear atypia and low to moderate level mitotic activity. (Adapted from WHO)|NCI|N|
C1367861|A basal cell carcinoma of the skin characterized by the presence of small nodules that permeate the dermis. It presents as an elevated or flat infiltrating tumor, usually in the back.|NCI|N|
C1367970|A variant of mycosis fungoides, characterized by an exclusively intraepidermal atypical (cerebriform) lymphocytic infiltrate. Patients present with a localized psoriasiform or hyperkeratotic patch or plaque, usually in the extremities. Extracutaneous dissemination of the disease has never been reported.|NCI|N|
C1368019|A malignant neoplasm composed of large cells with large nuclei, prominent nucleoli, and abundant pale cytoplasm (Paget cells). Paget cell neoplasms include Paget disease of the nipple and extramammary Paget disease which may affect the vulva, penis, anus, skin and scrotum.|NCI|N|
C1368041|A neuroendocrine tumor arising from the delta cells of the pancreas. It is characterized by inappropriate secretion of somatostatin and associated with diabetes mellitus, hypochlorhydria, gallbladder disease, diarrhea, steatorrhea, anemia, and weight loss.|NCI|N|
C1368065|A raised vasculitic hemorrhage into the skin and/or mucous membranes.|NCI|N|
C1368066|A usually malignant gastrin-producing neuroendocrine tumor arising from the pancreas. It may or may not be associated with inappropriate secretion of gastrin and an associated clinical syndrome.|NCI|N|
C1368107|Depletion of stem cells in the bone marrow that results in the lack of production of hematopoietic cells.|NCI|N|
C1368237|A benign, localized, nodular and well-circumscribed neoplasm usually seen as a congenital neoplasm or in the first year of life. It is characterized by a biphasic growth pattern and is composed of small, undifferentiated mesenchymal cells associated with branching thin-walled vessels and more mature neoplastic spindle cells with abundant eosinophilic cytoplasm in a collagenous stroma.|NCI|N|
C1368275|A basal cell carcinoma that contains large amounts of melanin. The melanin is produced by symbiotic nontumoral proliferating melanocytes.|NCI|N|
C1368354|A neoplasm composed of at least two distinct cellular populations.|NCI|N|
C1368404|Carcinoma, predominantly squamous cell, arising from the epithelial cells of the hypopharynx.|NCI|N|
C1368669|A neoplasm that arises from the adrenal cortex and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C1368683|A benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas [NCIT:C3709].|HPO|N|
C1368771|A morphologic variant of Burkitt lymphoma characterized by marked nuclear pleomorphism, abundant apoptotic debris, and the presence of tangible body macrophages.|NCI|N|
C1368816|A benign, well circumscribed neoplasm arising from the sebaceous glands. It usually presents as a small yellowish tumor in the sun exposed skin of head and neck. It is characterized by the presence of sebaceous cells aggregates with a peripheral rim of basaloid cells.|NCI|N|
C1368821|A benign ovarian stromal tumor characterized by the presence of cellular areas which contain fibroblasts and round cells. The cellular areas are separated by sclerotic or edematous hypocellular tissue. Symptoms include abdominal discomfort and menstrual abnormalities.|NCI|N|
C1368871|A benign or malignant neoplasm that occurs during childhood.|NCI|N|
C1368888|A cystic teratoma that occurs in an adult.|MONDO|N|
C1368898|A teratoma that occurs in an adult.|MONDO|N|
C1368910|A teratoma which may be cystic; it is composed entirely of well differentiated, adult-type mature tissues, without evidence of fetal-type immature tissues (grade 0 teratoma).|NCI|N|
C1368918|A rare, serous papillary adenocarcinoma that arises from the lining of the peritoneum. It affects females. The clinical behavior and pathologic characteristics are similar to the serous papillary adenocarcinoma that arises from the ovary.|NCI|N|
C1368920|Lobular neoplasia characterized by lobular epithelial proliferation that does not completely fill the lobular unit of the breast.|NCI|N|
C1368999|Any symptom or condition which is a result of a medical intervention but arises months or years after it.|NCI|N|
C1369136|An anal canal carcinoma which has spread to another anatomic site.|NCI|N|
C1370419|A granulosa-stromal cell tumor that arises from the ovary. It is characterized by the presence of granulosa cells that comprise at least ten percent of the cellular population. The granulosa cells are often found in a background that contains theca and fibrous cells. There are two major subtypes recognized, adult and juvenile granulosa cell tumor. Clinically, patients may present with an abdominal mass. Symptoms depend on the patient''s age. The most important indicator of prognosis is tumor stage. Age over forty years at the time of the initial diagnosis, large tumor size, bilaterality, cellular atypia, and increased mitotic activity are factors indicating a potentially aggressive clinical course and relative poor prognosis.|NCI|N|
C1370446|The reemergence of plasma cell myeloma after a period of remission.|NCI|N|
C1370468|A carcinoma occurring in the scrotum.|NCI|N|
C1370500|A variant of ependymoma, often found in the spinal cord, with tumor cells arranged in fascicles of variable width and cell density. Ependymal rosettes are generally absent, so this lesion must be distinguished from astrocytic neoplasms, but its EM characteristics are ependymal. (Adapted from WHO.)|NCI|N|
C1370503|A embryonal carcinoma of the central nervous system that occurs in an adult.|MONDO|N|
C1370504|A central nervous system germinoma that occurs in an adult.|MONDO|N|
C1370505|A choriocarcinoma affecting the central nervous system and occurring in adulthood.|NCI|N|
C1370506|A mature or immature teratoma affecting the central nervous system and occurring in adults.|NCI|N|
C1370507|A rare slow growing neuronal tumor seen more frequently in females than males, occurring most commonly in the cerebellum but occasionally in the supratentorial compartment or the fourth ventricle and presenting in the 4th to 6th decade of life with symptoms of dizziness, headache and gait instability. It often has a high rate of local recurrence.|SNOMEDCT_US|N|
C1370508|A germ cell tumor that arises within the cranium and occurs during adulthood.|NCI|N|
C1370510|A WHO grade II, usually recurring meningioma characterized by the predominance of tissues that are histologically similar to chordoma.|NCI|N|
C1370657|A perineurioma not associated with a nerve, arising from the soft tissues.|NCI|N|
C1370658|A rare tumor of cranial and spinal nerves arising from peripheral nerve sheath and composed exclusively or predominantly of cells showing perineurial differentiation. It presents as a localized, tubular or fusiform enlargement of a nerve or nerve segment, usually in the extremities or the trunk, associated with a motor-predominant mononeuropathy including slow, painless, gradual loss of motor function in the involved nerve trunk with muscle weakness and atrophy and, rarely, sensory dysfunction. Cranial nerve involvement is rare.|SNOMEDCT_US|N|
C1370659|A schwannoma characterized by a plexiform or multinodular growth pattern. It usually arises from the skin or subcutaneous tissues in the extremities, trunk, and head and neck.|NCI|N|
C1370701|An uncommon benign neoplasm of the sweat glands characterized by the presence of clear cells.|NCI|N|
C1370723|A malignant neoplasm characterized by the presence of atypical mesenchymal-stromal cells. Representative examples include endometrial stromal sarcoma and prostate stromal sarcoma.|NCI|N|
C1370800|An adenocarcinoma arising from the intrahepatic or extrahepatic bile ducts.|NCI|N|
C1370824|Interstitial emphysema is characterized by air dissecting within the interstitium of the lung, typically in the peribronchovascular sheaths, interlobular septa, and visceral pleura. It is most commonly seen in neonates receiving mechanical ventilation. It is rarely recognized radiographically in adults and is infrequently seen on CT scans. It appears as perivascular lucent or low attenuating halos and small cysts.|HPO|N|
C1370832|A hepatocellular carcinoma that occurs during childhood and has recurred after a period of remission.|NCI|N|
C1370868|The reemergence of chronic myelogenous leukemia after a period of remission. Check for ""https://www.cancer.gov/about-cancer/treatment/clinical-trials/intervention/C9070"" active clinical trials using this agent. (""http://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI%20Thesaurus&code=C9070"" NCI Thesaurus)|PDQ|N|
C1370879|The reemergence of a malignant salivary gland neoplasm after a period of remission.|NCI|N|
C1370889|Well-differentiated liposarcoma (WDLS), the most common type of liposarcoma (LS; see this term), is a slow growing, painless tumor usually located in the retroperitoneum or the limbs. It is composed of proliferating mature adipocytes.|ORDO|N|
C1370890|A rare morphologic variant of atypical lipomatous tumor/well differentiated liposarcoma occurring most often in the retroperitoneum. It is characterized by the presence of a predominant chronic inflammatory infiltrate.|NCI|N|
C1370913|A phyllodes tumor with morphologic characteristics which are intermediate between a benign and a malignant phyllodes tumor. The stromal sarcomatous changes are of low grade and are often reminiscent of low grade fibrosarcomas.|NCI|N|
C1370932|Carcinoma that affects the renal pelvis and ureter.|NCI|N|
C1370943|The reemergence of optic nerve glioma in childhood after a period of remission.|NCI|N|
C1370962|Tumor is clinically localized to the periprostatic area, but extends through the prostatic capsule; the seminal vesicles may be involved.|NCI|N|
C1370963|Tumor is clinically palpable but confined to the prostate.|NCI|N|
C1370970|A clinically undetectable tumor confined to the prostate gland, normally an incidental finding during surgery.|NCI|N|
C1371159|This entity represents a spectrum of lymphoproliferative disorders characterized by CD30 (Ki-1)-positive cutaneous T-cell infiltrates. The two ends of the spectrum include lymphomatoid papulosis (benign end) and primary cutaneous anaplastic large cell lymphoma (malignant end). Borderline lesions are also included in this spectrum. (WHO, 2001)|NCI|N|
C1377589|A nevus associated with focal regression-like changes.|NCI|N|
C1377598|A germ cell tumor arising from brain during childhood.|NCI|N|
C1377599|A mature or immature teratoma affecting the central nervous system and occurring in children.|NCI|N|
C1377604|A choriocarcinoma that arises from the central nervous system and occurs during childhood.|NCI|N|
C1377605|An embryonal carcinoma that arises from the central nervous system and occurs during childhood.|NCI|N|
C1377610|A mesothelial neoplasm that arises from the peritoneum. It includes adenomatoid tumor, well differentiated papillary mesothelial tumor, multicystic mesothelioma, and malignant mesothelioma.|NCI|N|
C1377613|A yolk sac tumor that arises from the central nervous system and occurs during childhood.|NCI|N|
C1377617|Carcinoma arising in a polyp.|NCI|N|
C1377621|An adenocarcinoma arising from a tubular adenoma.|NCI|N|
C1377629|An intraepithelial adenocarcinoma arising in a polyp.|NCI|N|
C1377630|An adenocarcinoma arising in a polyp.|NCI|N|
C1377632|An intraepithelial adenocarcinoma arising from a tubular adenoma.|NCI|N|
C1377647|An adenocarcinoma characterized by the presence of cartilaginous metaplasia.|NCI|N|
C1377648|An adenocarcinoma characterized by the presence of osseous metaplasia.|NCI|N|
C1377665|A benign or malignant neoplasm of the brain, spinal cord, or meninges occurring in children. Representative examples include posterior fossa astrocytoma, optic pathway glioma, medulloblastoma, ependymoma, and craniopharyngioma.|NCI|N|
C1377678|A benign or malignant neoplasm of the brain, spinal cord, or meninges occurring in adults. Representative examples of primary neoplasms include astrocytoma, meningioma, pituitary adenoma, and neurilemoma. Representative examples of tumor metastases from other organs to the central nervous system include lung and breast carcinoma.|NCI|N|
C1377708|A non-neoplastic hamartomatous polyp that arises from the colon and rectum. It is characterized by the presence of tortuous and cystically dilated glands, edematous changes, and inflammation.|NCI|N|
C1377717|A finding of childhood myeloid leukemia that is not growing and responds to treatment.|NCI|N|
C1377767|The reemergence of a nasopharyngeal malignant neoplasm after a period of remission.|NCI|N|
C1377782|A carcinoma of the oral cavity that arises from the floor of the mouth. Representative examples include squamous cell carcinoma, mucoepidermoid carcinoma, and adenoid cystic carcinoma.|NCI|N|
C1377785|A malignant epithelial neoplasm arising in the nasal cavity.|NCI|N|
C1377787|Stage IVB includes: Any T, Any N, M1. M1: Distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C1377828|Ataxia associated with chaotic multidirectional conjugate eye movements secondary to metastatic tumors to cerebellum. The most common malignant tumor associated with this paraneoplastic syndrome is lung carcinoma. (NCI)|NCI|N|
C1377843|An intermediate grade malignant bone-forming mesenchymal neoplasm with chondroblastic differentiation. It arises from the surface of the bone and affects the diaphysis or diaphyseal- metaphyseal portion of the long bones. A painless mass or swelling is the most common clinical sign. It is associated with a better prognosis than conventional osteosarcoma.|NCI|N|
C1377844|A benign neoplasm characterized by the presence of cystic structures lined by mucinous columnar epithelial cells in a fibrotic stroma.|NCI|N|
C1377850|A biphasic polypoid neoplasm characterized by the presence of papillary projections that are lined by epithelial cells and fibrotic stroma.|NCI|N|
C1377853|A benign or borderline neoplasm characterized by the presence of cystic glandular and fibrous tissues and clear cells.|NCI|N|
C1377904|Malignant testicular germ cell tumor that is resistant to treatment.|NCI|N|
C1377909|A papillary urothelial carcinoma that arises from the renal pelvis.|NCI|N|
C1377913|A neoplasm that arises from the mesothelial cells of the pleura. The primary cause is exposure to asbestos. The major histologic variants are the epithelioid malignant mesothelioma, desmoplastic malignant mesothelioma, and sarcomatoid malignant mesothelioma. Patients present with persistent cough and shortness of breath.|MONDO|N|
C1377914|A gliosarcoma of the brain stem that occurs during adulthood.|NCI|N|
C1377915|A mixed glioma of the brain stem that occurs during adulthood.|NCI|N|
C1377916|A mesenchymal neoplasm that arises from vascular tissue usually of the skin. It is characterized by the presence of vascular channel formation and endothelial cells. There is no evidence of atypical or malignant cytological and architectural features, invasive features, or metastases.|NCI|N|
C1377917|Stage I includes: T1, N0, M0. T1: Tumor confined to the nasopharynx. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th ed.)|NCI|N|
C1377918|Stage III includes: (T1, N2, M0); (T2a, N2, M0); (T2b, N2, M0); (T3, N0, M0); (T3, N1, M0); (T3, N2, M0). T3: Tumor involves bony structures and/or paranasal sinuses. N2: Bilateral metastasis in lymph node(s), 6 cm or less in greatest dimension, above the supraclavicular fossa. M0: No distant metastasis. (AJCC 6th ed.)|NCI|N|
C1377919|A carcinoma that arises from the nasopharynx and has metastasized to another anatomic site.|NCI|N|
C1377940|An intraosseous odontogenic neoplasm with good prognosis, arising from the mandible and less frequently from the maxilla. It is characterized by the presence of stellate cells, myxoid stroma formation, and prominent collagen. Small tumors may be cured with enucleation. Complete excision may be required for larger tumors.|NCI|N|
C1378050|A usually benign neoplasm composed of large cells with abundant eosinophilic granular cytoplasm. Representative examples include oncocytic neoplasms of the thyroid gland, and kidney. (NCI05)|NCI|N|
C1378105|Stage II includes: (T2, N0, M0); IIA: (T2a, N0, M0); IIB (T2b, N0, M0); IIC (T2c, N0, M0). T2: Tumor involves one or both fallopian tubes with pelvic extension. T2a: Extension and/or metastasis to the uterus and/or ovaries. T2b: Extension to other pelvic structures. T2c: Pelvic extension with malignant cells in ascites or peritoneal washings. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C1378106|Stage I includes: (T1, N0, M0); IA (T1a, N0, M0); IB (T1b, N0, M0); IC (T1c, N0, M0). T1: Tumor limited to the fallopian tube(s). T1a: Tumor limited to one tube, without penetrating the serosal surface; no ascites. T1b: Tumor limited to both tubes, without penetrating the serosal surface; no ascites. T1c: Tumor limited to one or both tubes with extension onto or through the tubal serosa, or with malignant cells in ascites or peritoneal washings. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C1378107|Stage III includes: (T3, N0, M0); IIIA (T3a, N0, M0); IIIB (T3b, N0, M0); IIIC (T3c, N0, M0). T3: Tumor involves one or both fallopian tubes, with peritoneal implants outside the pelvis. T3a: Microscopic peritoneal metastasis outside the pelvis. T3b: Macroscopic peritoneal metastasis outside the pelvis 2cm or less in greatest dimension. T3c: Peritoneal metastasis more than 2cm in diameter. (AJCC 6th ed.)|NCI|N|
C1378108|Stage II carcinoma of the pharynx according to the American Joint Committee on Cancer, 6th, 7th, and 8th editions.|NCI|N|
C1378109|Stage III carcinoma of the pharynx according to the American Joint Committee on Cancer, 6th, 7th, and 8th editions.|NCI|N|
C1378111|Stage IV carcinoma of the pharynx according to the American Joint Committee on Cancer, 6th, 7th, and 8th editions.|NCI|N|
C1378340|A benign squamous neoplasm characterized by a papillary growth pattern, diffusely involving a specific anatomic site.|NCI|N|
C1378461|Stage IV includes: Any T, Any N, M1. IVA: Any T, Any N, M1a. IVB: Any T, Any N, M1b. M1: Distant Metastasis. (AJCC 6th ed.) -2003|NCI|N|
C1378462|Stage IV includes: IVA (T4a, N0, M0); (T4a, N1, M0); (T1, N2, M0); (T2, N2, M0); (T3, N2, M0); (T4a, N2, M0); IVB (T4b, Any N, M0); IVC (Any T, Any N, M1). T4a: Tumor invades the larynx, deep/extrinsic muscle of tongue, medial pterygoid, hard palate, or mandible. T4b: Tumor invades lateral pterygoid muscle, pterygoid plates lateral nasopharynx, or skull base or encases carotid artery. M1: Distant Metastasis. (AJCC 6th ed.)|NCI|N|
C1378463|The reemergence of hypopharyngeal carcinoma after a period of remission.|NCI|N|
C1378703|A carcinoma arising from the epithelium of the renal parenchyma or the renal pelvis. The majority are renal cell carcinomas. Kidney carcinomas usually affect middle aged and elderly adults. Hematuria, abdominal pain, and a palpable mass are common symptoms.|NCI|N|
C1382025|A primary or metastatic malignant neoplasm that affects the sternum.|NCI|N|
C1382026|A rare malignant neoplasm that arises from the sebaceous glands.|NCI|N|
C1382398|An acute phenomenon characterized by hypotension and anasarca due to the loss of plasma volume into peripheral tissues, with evidence of decreased plasma volume (hemoconcentration) and protein loss from the intravascular space (hypoalbuminemia) during acute episodes.|HPO|N|
C1382811|An increased quantity of earwax.|HPO|N|
C1383860|Enlargement of the HEART due to chamber HYPERTROPHY, an increase in wall thickness without an increase in the number of cells (MYOCYTES, CARDIAC). It is the result of increase in myocyte size, mitochondrial and myofibrillar mass, as well as changes in extracellular matrix.|MSH|N|
C1384403|An ependymoma, often supratentorial in location, characterized by the presence of ependymal cells with a perinuclear halo.|NCI|N|
C1384406|A WHO grade I meningioma characterized by the presence of epithelial differentiation and numerous intracellular PAS positive bodies that are rich in glycogen.|NCI|N|
C1384407|A WHO grade I meningioma characterized by the presence of a prominent mesenchymal component. The mesenchymal component may be osseous, cartilaginous, myxoid, lipomatous, or a mixture of mesenchymal elements.|NCI|N|
C1384408|A WHO grade I meningioma characterized by the presence of intercellular microcystic spaces that contain mucinous fluid.|NCI|N|
C1384410|A polyp with a fibrous core.|NCI|N|
C1384416|A sarcoma arising from the leptomeninges.|NCI|N|
C1384426|An epithelial hyperplasia on the surface of the tongue associated with Epstein-Barr virus and found almost exclusively in persons with HIV infection. The lesion consists of a white patch that is often corrugated or hairy.|NCI|N|
C1384485|Birth of the fetus through the vagina without the application of vacuum or forceps or any other instrument. (adapted from reVITALize)|NCI|N|
C1384493|Inflammation of a mucous membrane with increased flow of mucous in humans or animals. Catarrh is used mostly in a historical context.|MSH|N|
C1384494|A carcinoma that has spread from its original site of growth to other anatomic sites.|NCI|N|
C1384514|A form of hyperaldosteronism caused by a defect within the adrenal gland.|HPO|N|
C1384582|Testicular failure due to a condition directly affecting the testes.|NCI|N|
C1384583|A condition in which the seminiferous tubules are lined only by Sertoli cells.|NCI|N|
C1384586|Application of forceps to the fetal head to facilitate vaginal birth.|NCI|N|
C1384588|Myocarditis that is caused by an infection with a bacterial agent.|NCI|N|
C1384589|Fungal infection of the groin. The main causative fungus is TRICHOPHYTON.|MSH|N|
C1384594|A significant descent of the kidney as the patient moves from the supine to the erect position.|HPO|N|
C1384600|A category of juvenile idiopathic arthritis defined by the presence of arthritis and high fevers, and accompanied by at least 2 of the following systemic features: lymphadenopathy, organomegaly, rash, or serositis. Macrophage activation syndrome is a well known complication.|NCI|N|
C1384606|Recurrent or persistent genital pain associated with sexual intercourse.|HPO|N|
C1384641|Arthrosis, i.e., of degenerative joint disease, affecting the cervical vertebral column.|HPO|N|
C1384666|A decreased magnitude of the sensory perception of sound.|HPO|N|
C1384670|Single umbilical artery (SUA) is the absence of one of the two umbilical arteries surrounding the fetal bladder and in the fetal umbilical cord.|HPO|N|
C1384678|A rare benign neoplasm that arises from the bladder and is characterized by the presence of a papillary growth with a central fibrovascular core. The latter is lined by normal urothelium.|NCI|N|
C1384687|Ancylostomiasis that is caused by infection by Ancylostoma Duodenale.|NCI|N|
C1384816|Idiopathic pulmonary artery dilatation is a rare developmental defect during embryogenesis characterized by the dilatation of the main pulmonary artery, with or without dilatation of the right and left pulmonary artery branches, and not attributed to any other cardiac, pulmonary and/or arterial wall disease. It may present with exertional dyspnea, fatigue, cough, hemoptysis, palpitation and chest pain, but may also be asymptomatic. In serious cases, trachea constriction due to postural changes may lead to attacks of cyanosis with severe dyspnea. Sudden cardiac death has been reported in some cases.|ORDO|N|
C1386091|Small hands and feet in proportion to the rest of the body.|HPO|N|
C1387005|Penile agenesis is a rare urogenital tract malformation characterized by complete congenital absence of the phallus. It is usually accompanied by a well-developed scrotum and presence of a skin tag at the anal verge (with or without a urethral meatal opening within it). Often, other genitourinary (e.g. cryptorchidism, renal agenesis and dysplasia, urinary reflux, prostate agenesis) as well as non-genitourinary abnormalities (including skeletal and neural disorders, anal stenosis, imperforate anus, cardiac defects) are associated.|ORDO|N|
C1387020|A rare urogenital tract malformation with characteristics of the complete absence of the scrotal rugae in the perineum between the penis and anus, with bilateral testes being present in a cryptorchid or ectopic position. The malformation may be an isolated finding or occur in association with other anomalies.|SNOMEDCT_US|N|
C1387532|An chronic form of hemolytic anemia.|HPO|N|
C1387721|Interventricular septum aneurysm is a rare, non-syndromic, congenital heart malformation characterized by the presence of a congenital aneurysm of the membranous portion of the interventricular septum. Patients may be asymptomatic or may present with ventricular or supraventricular tachycardia, fatigue, exertional dyspnea, palpitations, and cardiac murmur. Ventricular septal defects and conduction defects, such as first-degree atrio-ventricular block or incomplete right bundle branch block, may also be also associated.|ORDO|N|
C1387805|Recurrent attacks of severe anxiety, which occur without restriction to any particular situation or set of circumstances, are therefore unpredictable.|HPO|N|
C1388233|An abnormal localized widening (dilatation) of the descending thoracic aorta.|HPO|N|
C1388299|A rare, benign and well circumscribed neoplasm that arises from the breast. It is characterized by the proliferation of epithelial cells with extensive apocrine metaplasia.|NCI|N|
C1388359|A rare viral disease caused by arboviruses and are classically characterized by encephalitis and hemorrhage, however, most commonly only aspecific fever is observed.|ORDO|N|
C1389003|Congenital absence of the normal opening of a structure of the urinary tract.|HPO|N|
C1389016|A defect of the atrioventricular septum of the heart.|HPO|N|
C1389018|The term 'atrioventricular septal defect' (AVSD) covers a spectrum of congenital heart malformations characterized by a common atrioventricular junction coexisting with deficient atrioventricular septation. In ostium primum atrial septal defect (ASD) there are separate atrioventricular valvar orifices despite a common junction, whereas in complete AVSD the valve itself is also shared (summary by Craig, 2006).
AVSD, also designated endocardial cushion defect or atrioventricular canal defect (AVCD), is known to occur in either a nonsyndromic (isolated) form or, more commonly, as part of a malformation syndrome. The 2 syndromes most frequently associated with AVSD are Down syndrome (190685), in which AVSD is the most frequent congenital heart defect, and Ivemark syndrome (208530) (summary by Carmi et al., 1992).
Genetic Heterogeneity of Isolated Atrioventricular Septal Defect
An AVSD susceptibility locus (AVSD1) maps to chromosome 1p31-p21; AVSD2 (606217) is caused by mutation in the CRELD1 gene (607170) on chromosome 3p25; AVSD4 (614430) is caused by mutation in the GATA4 gene (600576) on chromosome 8p23.1; and AVSD5 (614474) is caused by mutation in the GATA6 gene (601656) on chromosome 18q11.
A form of AVSD, designated AVSD3, was thought to be caused by mutation in the GJA1 gene (121014.0011), but this variant has been reclassified as a variant of unknown significance.
Somatic mutations in the HAND1 gene (602406) have been identified in tissue samples from patients with AVSDs.|OMIM|N|
C1389113|Generalized (diffuse, unlocalized) amyotrophy (muscle atrophy) affecting multiple muscles.|HPO|N|
C1389118|Atrophy of the peroneous muscles, peroneus longus (also known as Fibularis longus), Peroneus brevis (also known as fibularis brevis, and Peroneus tertius (also known as fibularis tertius).|HPO|N|
C1389280|The presence of calcium deposition affecting one or more structures of the basal ganglia.|HPO|N|
C1389795|Two clitorides located side by side.|HPO|N|
C1389851|Developmental hypoplasia of the parathyroid gland.|HPO|N|
C1390166|Bleeding within the fundus of the eye.|HPO|N|
C1390214|The presence of hemorrhage within the body.|HPO|N|
C1390376|The health and other ramifications of military and civilian exposure to WAR .|MSH|N|
C1390474|An abnormally increased tendency to fractures of bones caused by an abnormal reduction in bone strength that is generally associated with an increased risk of fracture.|HPO|N|
C1390512|Xanthoma of bone is an exceedingly rare benign primary bone tumor histologically characterized by mononuclear macrophage-like cells, abundant foam cells, and multinucleated giant cells.|HPO|N|
C1390523|Any disorder of the muscles and bones occurring as a consequence of injury to the musculoskeletal system.|NCI|N|
C1390676|A large maternal clot that separates the chorionic plate from the villous chorion.|HPO|N|
C1392046|Circulatory insufficiency due to a decrease in the force of the cardiac contractions and/or the tone of the vascular walls.|NCI|N|
C1392099|A type of anterior polar cataract which projects as a conical opacity into the anterior chamber.|HPO|N|
C1392104|A 'coral-like' pattern of opacity in the lens of the eye. That is, a cataract with an irregular, stellate form.|HPO|N|
C1392207|A necrotic process affecting the brain and/or spinal cord.|NCI|N|
C1392435|Abnormal enlargement of one or both hands, along with hyperhydrosis.|NCI|N|
C1392669|A type of cirrhosis characterized by the presence of regenerative nodules of a variety of sizes.|HPO|N|
C1392786|Pertaining to or characterized by cognition. That operation of the mind which we become aware of objects of thought or perception; it includes all aspects of perceiving, thinking, or remembering.|NCI|N|
C1392839|Underdevelopment of the colon.|HPO|N|
C1393305|A problem arising from the use of a prosthetic.|NCI|N|
C1393619|A rare larynx anomaly with a cyst involving the larynx or supraglottis locations, such as the epiglottis and vallecula. Timing and severity of presentation depend on the size of the cyst and its proximity to the glottis and range from severe prenatal airway obstruction leading to polyhydramnios and pulmonary hypoplasia to postnatal inspiratory stridor associated with muffled cry, hoarseness and cyanotic episodes, feeding difficulties and failure to thrive. It can be associated with laryngomalacia.|SNOMEDCT_US|N|
C1393871|Multiple bent (flexed) finger joints that cannot be straightened actively or passively.|HPO|N|
C1394030|A mild form of hypospadias in which the urethra opens just under the corona glandis.|HPO|N|
C1394494|Anterior vaginal wall prolapse with bulging of the bladder into the vagina.|HPO|N|
C1394891|Congenital pernicious anemia (PA), or intrinsic factor deficiency, is a rare disorder characterized by the lack of gastric intrinsic factor in the presence of normal acid secretion and mucosal cytology and the absence of GIF antibodies that are found in the acquired form of pernicious anemia (170900).
See also pernicious anemia due to defect in the receptor for vitamin B12/intrinsic factor (261100).|OMIM|N|
C1395264|A type of invasive dermatophyte infection of the deep dermis characterized by extensive dermal infiltration by fungal elements.|HPO|N|
C1395317|Dextrocardia with situs inversus is a condition that is characterized by abnormal positioning of the heart and other internal organs. In people affected by dextrocardia, the tip of the heart points towards the right side of the chest instead of the left side. Situs inversus refers to the mirror-image reversal of the organs in the chest and abdominal cavity. Some affected people have no obvious signs or symptoms. However, a small percentage of people also have congenital heart defects, usually transposition of the great vessels. Dextrocardia with situs inversus can also be associated with primary ciliary dyskinesia (also known as Kartagener syndrome). Treatment typically depends on the heart or physical problems the person may have in addition to dextrocardia with situs inversus.|MONDO|N|
C1395365|An obstruction of a vessel caused by a detached fragment of an indwelling dialysis catheter.|NCI|N|
C1395369|Blockage of a dialysis catheter by a thrombus or other substance.|NCI|N|
C1395674|The presence of multiple diverticula of the intestine.|HPO|N|
C1395724|A population of lymphocytes from the blood of a donor and administered to a patient who has already received a stem cell transplant from the same donor (Allogeneic Hematopoietic Stem Cell Transplantation). The donor lymphocytes may be able to boost the patient''s immune system and kill remaining cancer cells.|NCI|N|
C1395852|Supernumerary digits located at the radial side of the hand. Polydactyly (supernumerary digits) involving the thumb occurs in many distinct forms of high variability and severity. Ranging from fleshy nubbins over varying degrees of partial duplication/splitting to completely duplicated or even triplicated thumbs or preaxial (on the radial side of the hand) supernumerary digits.|HPO|N|
C1395913|A disorder characterized by impaired ability to comprehend numerical representation and rules, recall numerical facts, and perform arithmetic and related operations due to innate neurological lesion in areas of the brain that are important in numerical processing.|MSH|N|
C1396126|A type of eczema that occurs in the lips and perioral area.|HPO|N|
C1396276|Enamel with a white or brown discoloration without hypoplasia.|HPO|N|
C1396481|A type of encephalopathy (brain disease, damage, or malfunction accompanied by an altered mental state) that is characterized by evidence of necrosis of brain tissue.|HPO|N|
C1396635|A morphologic finding indicating the alteration of the mature endometrial glandular epithelium to another that differs from that of normal endometrioid glands.|NCI|N|
C1396772|Hypoplasia of the epiglottis.|HPO|N|
C1396824|Status epilepticus with focal motor signs originating within networks limited to one hemisphere. Involves musculature in any form. The motor event could consist of an increase (positive) or decrease (negative) in muscle contraction to produce a movement.|HPO|N|
C1397043|A type of cyclophoria (latent strabismus in which the occluded eye wheel-rotates on dissociation.) in which the upper poles of the globes are rotated outward (laterally) to each other.|HPO|N|
C1397139|The presence of calcium deposition in the falx cerebri.|HPO|N|
C1397204|A disorder characterized by a necrotic process occurring in the pharynx.|NCI|N|
C1397399|A disorder characterized by an abnormal communication between the ileum and another organ or anatomic site.|NCI|N|
C1397408|A disorder characterized by an abnormal communication between the larynx and another organ or anatomic site.|NCI|N|
C1397452|An abnormal communication between the lung and another organ or anatomic site.|NCI|N|
C1397460|An abnormal connection (fistula) between the rectum and the ureter.|HPO|N|
C1397711|A fracture of the glenoid fossa, a relatively shallow dish is located on the lateral scapula and is the socket portion of the shoulder joint that meets to articulate the humeral head.|HPO|N|
C1398117|Birth at greater than or equal to 42 weeks and 0 days.|NCI|N|
C1398312|Width of the palate more than 2 SD below the mean (objective) or apparently decreased palatal width (subjective).|HPO|N|
C1398625|Increase in body weight of the mother during the course of her PREGNANCY.|MSH|N|
C1398718|Accumulation of calcium salts in the pineal gland.|HPO|N|
C1398740|Loss or prolapse of vitreous gel.|NCI|N|
C1398833|An inherited metabolic disease that is has its basis in the disruption of gluconeogenesis.|MONDO|N|
C1399128|Growth arrest lines are alternating transverse rings of sclerosis at the metaphysis of a long bone.|HPO|N|
C1399315|A collection of blood into the space between the pia membrane and arachnoid membrane.|NCI|N|
C1399352|A rare primary headache disorder characterized by multiple attacks of unilateral pain that occur in association with ipsilateral cranial autonomic symptoms. The hallmarks of this syndrome are the relative shortness of the attacks and the complete response to indomethacin therapy.|ORDO|N|
C1399354|The criteria for the hemifacial type of congenital hypertrophy are (1) unilateral enlargement of the viscerocranium bounded superiorly by the frontal bone (not including the eye), inferiorly by the inferior border of the mandible, medially by the midline of the face, and laterally by the ear, the pinna being included within the hypertropic area, and (2) enlargement of all tissues--teeth, bone, and soft tissue--within this area (Rowe, 1962).|OMIM|N|
C1399729|An abnormal growth located on the head.|NCI|N|
C1399793|Integument that folds in upon itself.|NCI|N|
C1399819|A general term referring to a defect in immunity resulting from impaired antibody production.|HPO|N|
C1399870|Distention of the vagina caused by accumulation of fluid due to congenital vaginal obstruction.|HPO|N|
C1399910|An increased concentration of hydroxylysine in the blood circulation. Hydroxylysine arises from a post-translational hydroxy modification of lysine and is unique to collagen and proteins containing collagen-like sequences. Elevated concentrations of hydroxylysine may indicate increased bone turnover.|HPO|N|
C1400301|Orthostatic hypotension due to autonomic dysfunction. Primary neurogenic orthostatic hypotension (nOH) may be associated with disorders such as Parkinson disease (PD) and multiple system atrophy (MSA) whereas secondary nOH may be seen in peripheral neuropathies.|NCI|N|
C1400310|Hypothyroidism due to insufficient intake of iodine.|NCI|N|
C1400387|A disorder characterized by blockage of the normal flow of the intestinal contents in the ileum.|NCI|N|
C1400473|A type of cyclophoria (latent strabismus in which the occluded eye wheel-rotates on dissociation.) in which the upper poles of the globes are rotated inward (medially) to each other.|HPO|N|
C1400574|A local or systemic infection associated with the use of a dialysis catheter.|NCI|N|
C1400817|Inflammation of the meninges and brain caused by an infectious agent.|NCI|N|
C1401086|A condition in which there is inadequate blood flow through the peripheral blood vessels due to intrinsic disease of the vasculature.|NCI|N|
C1401136|A type of ectopic pregnancy in which the extrauterine EMBRYO IMPLANTATION occurs in the portion of the FALLOPIAN TUBE that traverses the muscular wall of the uterus.|MSH|N|
C1401166|An inability to digest starch.|HPO|N|
C1401336|A disorder characterized by blockage of the normal flow of the intestinal contents in the jejunum.|NCI|N|
C1401781|Decreased length of the uvula.|HPO|N|
C1402260|Surgery to remove a lens and replace it with an artificial lens.|NCI|N|
C1402294|A term that refers to a pathologic process in its original anatomic site of growth.|NCI|N|
C1402865|A teratoma that arises from the liver.|NCI|N|
C1402983|Abnormal anatomical location of the stomach. This feature may be due to intestinal malrotation.|HPO|N|
C1403035|The presence of subcutaneous lipoma.|HPO|N|
C1403329|A type of cross fused renal ectopia in which the crossed kidney lies inferiorly and transversely, fused with the lower pole of the normal kidney.|HPO|N|
C1403753|A melanoma that arises from the penis. It may be cutaneous or mucosal. The most common site of involvement is glans penis.|NCI|N|
C1403891|A serious disorder characterized by massive adrenal gland hemorrhage secondary to a bacterial infection, most often Neisseria meningitidis infection. It is manifested with decreased blood pressure, shock, disseminated intravascular coagulation, and adrenocortical insufficiency.|MONDO|N|
C1404304|Increased size and molar morphology of premolar tooth.|HPO|N|
C1404338|A benign proliferation of pigment cells of the oral mucosa producing brown or bluish dome-shaped or sessile mass, usually with a smooth surface.|SNOMEDCT_US|N|
C1404574|Damage to the laryngeal nerve that results in paralysis of the layrnx.|NCI|N|
C1404767|A rare osteonecrosis with characteristics of bone necrosis due to disrupted blood supply in the absence of a known cause. Affected bones include the femoral head, talus, vertebral body, humerus and scaphoid among others. Patients may initially be asymptomatic but subsequently present with gradually developing refractory pain, swelling and reduced range of motion. If left untreated the condition may progress to bone collapse with secondary degeneration, fragmentation and pathological fracture as well as osteoarthritis.|SNOMEDCT_US|N|
C1404837|Kidney damage resulting from exposure to drugs.|NCI|N|
C1405128|An abnormal communication between the pleural cavity and another anatomic site.|NCI|N|
C1405301|A poliomyelitis that results in destruction located in motor neurons of central nervous system, has material basis in Human poliovirus 1, has material basis in Human poliovirus 2, or has material basis in Human poliovirus 3, which are transmitted by ingestion of food or water contaminated with feces, or transmitted by direct contact with the oral secretions. The infection has symptom loss of reflexes, has symptom muscle spasms, and has symptom acute flaccid paralysis.|MONDO|N|
C1405308|A rare, paralytic poliomyelitis associated with the orally administered live attenuated strain of the poliovirus, OPV.|NCI|N|
C1405426|Intermittent abdominal pain with diarrhea and/or constipation.|HPO|N|
C1405430|Crying easily, difficult to console.|NCI|N|
C1405546|Blood-tinged vaginal secretion in a neonate that results from the residual influence of maternal estrogen.|NCI|N|
C1405854|A progressive form of familial flecked retinopathy characterized by white punctata throughout the fundus (but sparing the macula in the early stages). Patients present with nightblindness in childhood and may also experience a loss of visual acuity. Significant loss of vision is reported in the 5th and 6th decades of life.|ORDO|N|
C1405984|Missing radius bone associated with congenital failure of development.|HPO|N|
C1405990|Persons adversely effected by DISASTERS, occurrences that result in property damage, deaths, and/or injuries to a community.|MSH|N|
C1406054|A disorder characterized by blockage of the normal flow of the intestinal contents in the rectum.|NCI|N|
C1406727|The presence of cells with and without three copies of chromosome 21 in either somatic or germinal tissue.|NCI|N|
C1406835|One or more bent (flexed) toe joints that cannot be straightened actively or passively.|HPO|N|
C1406988|A condition characterized by excessive fatigue and lack of energy, increasing irritability, and feelings of demoralization. Persons who experience this condition are not at an increased risk for cancer.|NCI|N|
C1407019|Rotated position of the glans, with or without the penile shaft, of 30 degrees or more.|HPO|N|
C1408353|Refers to an underlying pathologic process that has not been identified.|NCI|N|
C1408443|Congenital or acquired blockage of the vagina.|NCI|N|
C1408507|A vertical gaze palsy with inability to direct the gaze of the eyes downwards.|HPO|N|
C1408806|Ossification affecting the external ear cartilage.|HPO|N|
C1409412|Abnormal deposition of periosteal bone.|HPO|N|
C1409715|An alteration in the perceptual senses an individual.|NCI|N|
C1409763|Incisor that has marked lateral borders occurring lingually.|SNOMEDCT_US|N|
C1410868|An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in a cerebral artery.|HPO|N|
C1411886|Any condition characterized by an inability to regulate body temperature.|NCI|N|
C1412000|Ischemic tissue injury produced by insufficient perfusion of intestinal tissue by the MESENTERIC CIRCULATION (i.e., CELIAC ARTERY; SUPERIOR MESENTERIC ARTERY; INFERERIOR MESENTERIC ARTERY; and MESENTERIC VEINS). It can progress from ISCHEMIA; EDEMA; and GANGRENE of the bowel wall to PERITONITIS and cardiovascular collapse.|MSH|N|
C1412002|Historical term that references a form of pneumonia caused by Mycoplasma pneumoniae, Chlamydophila pneumoniae, or Legionella species.|NCI|N|
C1412004|A benign or malignant neoplasm that affects the pineal region.|NCI|N|
C1412016|A carcinoma arising from the sweat glands. Representative examples include tubular carcinoma, spiradenocarcinoma, eccrine carcinoma, hidradenocarcinoma, and apocrine carcinoma.|NCI|N|
C1412036|A squamous cell carcinoma (SCC) arising from the anal canal or the anal margin (perianal skin). Human papillomavirus is detected in the majority of cases. Homosexual HIV-positive men have an increased risk of developing anal squamous cell carcinoma in comparison to the general male population. Symptoms include anal pruritus, discomfort when sitting, pain, change in bowel habit, and bleeding. The prognosis is generally better for anal margin SCC than for anal canal SCC.|NCI|N|
C1412037|A squamous cell carcinoma that originates in the skin of the anal margin.|HPO|N|
C1412041|Mental retardation, microcephaly, spastic diplegia, seizures, and mild aminoaciduria are the principal features. Seemanova syndrome 1 and Paine syndrome are considered as variants of the same entity termed Paine-Seemanova syndrome.|JABL|N|
C1414017|Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the GRXCR1 gene.|MONDO|N|
C1414216|Torsion dystonia-6 (DYT6) is an autosomal dominant movement disorder characterized by early involvement of craniofacial muscles with secondary generalization often involving the arms, and laryngeal dystonia that causes speech difficulties (review by Djarmati et al., 2009).
Blanchard et al. (2011) provided a review of dystonia-6 and the THAP1 gene.|OMIM|N|
C1415817|The more common form of transposition of the great arteries, dextro-looped TGA, consists of complete inversion of the great vessels, so that the aorta incorrectly arises from the right ventricle and the pulmonary artery incorrectly arises from the left ventricle. (In the less common type of TGA, levo-looped TGA, the ventricles are inverted instead) (Goldmuntz et al., 2002). This creates completely separate pulmonary and systemic circulatory systems, an arrangement that is incompatible with life. Patients with TGA often have atrial and/or ventricular septal defects or other types of shunting that allow some mixing between the circulations in order to support life minimally, but surgical intervention is always required.
For a discussion of genetic heterogeneity of dextro-looped transposition of the great arteries, see 608808.|OMIM|N|
C1419610|Any retinitis pigmentosa in which the cause of the disease is a mutation in the OFD1 gene.|MONDO|N|
C1419614|Any retinitis pigmentosa in which the cause of the disease is a mutation in the FAM161A gene.|MONDO|N|
C1423873|Cone-rod dystrophy is a group of related eye disorders that causes vision loss, which becomes more severe over time. These disorders affect the retina, which is the layer of light-sensitive tissue at the back of the eye. In people with cone-rod dystrophy, vision loss occurs as the light-sensing cells of the retina gradually deteriorate.\n\nThe first signs and symptoms of cone-rod dystrophy, which often occur in childhood, are usually decreased sharpness of vision (visual acuity) and increased sensitivity to light (photophobia). These features are typically followed by impaired color vision (dyschromatopsia), blind spots (scotomas) in the center of the visual field, and partial side (peripheral) vision loss. Over time, affected individuals develop night blindness and a worsening of their peripheral vision, which can limit independent mobility. Decreasing visual acuity makes reading increasingly difficult and most affected individuals are legally blind by mid-adulthood. As the condition progresses, individuals may develop involuntary eye movements (nystagmus).\n\nThere are more than 30 types of cone-rod dystrophy, which are distinguished by their genetic cause and their pattern of inheritance: autosomal recessive, autosomal dominant, and X-linked. Additionally, cone-rod dystrophy can occur alone without any other signs and symptoms or it can occur as part of a syndrome that affects multiple parts of the body.|MedlinePlus Genetics|N|
C1439275|Carcinoma that is spread throughout the body.|NCI|N|
C1442786|A history of repeated acute infections of the upper or lower respiratory tract.|HPO|N|
C1442837|Irreversible damage to heart tissue (myocardium) due to lack of oxygen after a heart attack (myocardial infarction).|HPO|N|
C1442879|Intermittent, incomplete or complete paralysis with or without tremors to any of the organs or body parts innervated by the phrenic nerve.|NCI|N|
C1442903|An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage, and arises from a bone that develops from cartilage.|HPO|N|
C1442935|Autosomal dominant form of chondrodysplasia punctata.|MONDO|N|
C1442978|The presence of a hernia in the abdominal wall.|HPO|N|
C1442995|Cirrhosis resulting from accumulation of iron in the liver.|SNOMEDCT_US|N|
C1442998|The presence of a hernia of the vagina.|HPO|N|
C1443228|A disease arising from a defect of carnitine acetyltransferase causing disruption of whole-body glucose homeostasis and muscle-specific loss of function results in reduced metabolic control, which resembles the insulin resistant state.|MONDO|N|
C1443237|Infection of the lung often accompanied by inflammation that is acquired through an interaction within a healthcare institution often through a therapeutic experience (e.g., use of catheters or ventilators).|MSH|N|
C1443296|A form of myopia related to an axial length above the norm and too long for the refractive power of the whole optical system of the eye.|HPO|N|
C1443309|The reason the treatment was administered.|NCI|N|
C1443381|The retinal vessels stop and then a linear flat white line is present that usually runs the circumference of the vascular retina.|HPO|N|
C1443382|The accumulating neovascularization thickens and manifests as a linear bump. The neovascularization remains along the surface of the retina and does not extend off the retina into the cortical vitreous.|HPO|N|
C1443383|The neovascularization accumulates at the edge of the vascularized retina and extends into the vitreous (also called extra retinal fibrosis proliferation). In cases of Zone 2 and Zone 3, this may be sausage shaped. In more posterior Zone 1 disease, the stage 3 can appear as a direct extension of the normal retinal vessels but extending tangentially over the avascular retina.|HPO|N|
C1443384|Scar tissue that forms a continuous sheet coming up from the edge of the vascularized retina. This scar tissue can grow toward the vitreous base/posterior lens capsule resulting in traction, distortion, and even detachment.|HPO|N|
C1443385|Funnel detachment from the retina with generally traction in all four quadrants.|HPO|N|
C1443394|An indication of whether an individual has received a vaccination.|NCI|N|
C1443422|Impaired ability to exercise reliance on beliefs and/or participate in rituals of a particular faith tradition.|NANDA-I|N|
C1443423|Susceptible to an impaired ability to exercise reliance on religious beliefs and/or participate in rituals of a particular faith tradition, which may compromise health.|NANDA-I|N|
C1443844|The process by which an infection is transmitted to a person.|NCI|N|
C1443900|Inhalational botulism is a man-made form of botulism (see this term), a rare acquired neuromuscular junction disease with descending flaccid paralysis caused by botulinum neurotoxins (BoNTs).|ORDO|N|
C1443901|A rare form of botulism, a rare acquired neuromuscular junction disease with descending flaccid paralysis caused by botulinum neurotoxins (BoNTs), and is due to intestinal colonization by <i>Clostridium botulinum</i> leading to toxin-mediated infection with toxemia. The disease affects infants (infant botulism) and very rarely adults (adult intestinal botulism).|ORDO|N|
C1443971|A chronic inflammatory process affecting the esophageal wall.|NCI|N|
C1443976|A pneumonia caused by anaerobic bacteria.|MONDO|N|
C1444066|A neoplasm surrounded by a fibrous capsule.|NCI|N|
C1444199|Exogenous ochronosis refers tothe bluish-black discoloration of certain tissues, such as the ear cartilage, the ocular (eye) tissue, and other body locations when it is due toexposure to various substances.It has been reported most commonly with topical application of hydroquinones to the skin. The discolorationmay becaused byan effect ontyrosinase(an enzyme located in melanocytes, which are skincells that produce pigment), or by inhibiting homogentisic acid oxidase, resulting in the accumulation and deposition of homogentisic acid (HGA) in cartilage. The discoloration is often permanent, but when exogenous ochronosis is caused by topical hydroquinones, carbon dioxide lasers and dermabrasion have been reported to be helpful. Exogenous ochronosis is different from hereditary ochronosis, which is an inherited condition that occurs with alkaptonuria.|MONDO|N|
C1444214|A congenital anatomic defect characterised by the absence of a normally present opening in an organ or tissue.|NCI|N|
C1444621|A rare ophthalmic disorder characterized by a zonal granulomatous inflammatory reaction centered around the lens secondary to its traumatic rupture. Signs and symptoms include photophobia, ocular irritation or pain, blurred vision, redness, mutton-fat keratic precipitates, posterior synechiae, and sometimes hypopyon. Intraocular pressure may be elevated due to blockage of the trabecular meshwork by inflammatory cells or lens material.|ORDO|N|
C1444631|Mechanical limitation of the range of movement of the medial rectus muscle.|HPO|N|
C1444632|Mechanical limitation of the range of movement of the inferior rectus muscle.|HPO|N|
C1444648|To provide or supply something, such as a product or service.|NCI|N|
C1444651|Is not an option.|NCI|N|
C1444657|State of a particular method of treatment, regimen, procedure, medication, etc. of being unsuitable and inadvisable, often because of a likely adverse reaction.|NCI|N|
C1444662|To stop or end, permanently or temporarily.|NCI|N|
C1444665|A term used to describe the state or condition of the completeness of the physical examination data.|NCI|N|
C1444680|Remnant lens epithelial cell proliferation and migration to the posterior capsule.|NCI|N|
C1444681|Remnant lens epithelial cell proliferation of the anterior capsule.|NCI|N|
C1444838|An older, deprecated term that encompassed three major types of autoimmune or autoinflammatory arthritis in children: systemic-onset, pauciarticular, or polyarticular arthritis. The juvenile rheumatoid arthritis classification system has been replaced by the International League of Associations for Rheumatology (ILAR) juvenile idiopathic arthritis classification system.|MONDO|N|
C1444842|Oligoarticular juvenile idiopathic arthritis (JIA) affects between one and up to a maximum of four joints. For onset persistent oligoarthritis there is never involvement of more than four joints during the whole course of the disease.|SNOMEDCT_US|N|
C1444843|Oligoarticular juvenile idiopathic arthritis (JIA) affects between one and up to a maximum of four joints. For onset extended oligoarthritis there is involvement of additional joints after the first six months of the disease, resulting in more than four joints being ultimately affected.|SNOMEDCT_US|N|
C1445953|A reduced frequency or duration of eye contact.|HPO|N|
C1446409|Involving advantage or good.|NCI|N|
C1446712|A finger resting on the dorsal surface of an adjacent digit when the hand is at rest.|HPO|N|
C1449563|LMNA-related dilated cardiomyopathy (DCM) is characterized by left ventricular enlargement and/or reduced systolic function preceded (sometimes by many years) by or accompanied by conduction system disease and/or arrhythmias. LMNA-related DCM usually presents in early to mid-adulthood with symptomatic conduction system disease or arrhythmias, or with symptomatic DCM including heart failure or embolus from a left ventricular mural thrombus. Sudden cardiac death can occur, and in some instances is the presenting manifestation; sudden cardiac death may occur with minimal or no systolic dysfunction.|GeneReviews|N|
C1449566|Any of the enzymatically catalyzed modifications of the individual AMINO ACIDS of PROTEINS, and enzymatic cleavage or crosslinking of peptide chains that occur pre-translationally (on the amino acid component of AMINO ACYL TRNA), co-translationally (during the process of GENETIC TRANSLATION), or after translation is completed (POST-TRANSLATIONAL PROTEIN PROCESSING).|MSH|N|
C1449626|A subvariety of CADASIL characterized by the high frequency of MIGRAINE. The acronym stands for Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts, Leukoencephalopathy, and Migraine.|MSH|N|
C1449631|Reduced motility of the gallbladder with reduced emptying fraction.|HPO|N|
C1449718|Breast diseases which are hormone-dependent or responsive to endocrine signals.|MSH|N|
C1449720|Gynecomastia that occurs during puberty and is not due to exogenous substances or disease processes.|NCI|N|
C1449721|Transient bilateral swelling of breast tissue in a neonate that results from the waning influence of maternal estrogen.|NCI|N|
C1449744|Myopia that increases at an abnormally rapid rate or increases after maturity (Hofstetter et al, Dictionary of Visual Science and Related Clinical Terms, 5th ed).|MSH|N|
C1449809|A multifactorial disease of CATTLE resulting from complex interactions between environmental factors, host factors, and pathogens. The environmental factors act as stressors adversely affecting the IMMUNE SYSTEM and other host defenses and enhancing transmission of infecting agents.|MSH|N|
C1449842|Autosomal dominant pseudohypoaldosteronism type I (PHA1A) is characterized by salt wasting resulting from renal unresponsiveness to mineralocorticoids. Patients may present with neonatal renal salt wasting with hyperkalaemic acidosis despite high aldosterone levels. These patients improve with age and usually become asymptomatic without treatment. Some adult patients with the disorder may have elevated aldosterone levels, but no history of clinical disease. This observation suggests that only those infants whose salt homeostasis is stressed by intercurrent illness and volume depletion develop clinically recognized PHA I (summary by Geller et al., 1998).
Autosomal recessive pseudohypoaldosteronism type I (see PHA1B1, 264350), caused by mutation in any one of 3 genes encoding the epithelial sodium channel (ENaC), is a similar but more severe systemic disorder with persistence into adulthood.|OMIM|N|
C1449843|A severe form of pseudohypoaldosteronism type 1 characterized by salt wasting in multiple organs including the kidney, colon, and sweat and salivary glands. Presentation is in the first few weeks of life with severe dehydration, vomiting and failure to thrive in association with hyponatremia, hyperkalemia and metabolic acidosis as well as elevated aldosterone and renin levels. No remission is reported and patients suffer from recurrent life-threatening episodes of salt loss.|ORPHANET|N|
C1449844|Pseudohypoaldosteronism type II (PHAII) is characterized by hyperkalemia despite normal glomerular filtration rate (GFR) and frequently by hypertension. Other associated findings in both children and adults include hyperchloremia, metabolic acidosis, and suppressed plasma renin levels. Aldosterone levels are variable, but are relatively low given the degree of hyperkalemia (elevated serum potassium is a potent stimulus for aldosterone secretion). Hypercalciuria is well described.|GeneReviews|N|
C1450010|Distortion of the infantile cranium secondary to the application of prenatal and postnatal external forces.|SNOMEDCT_US|N|
C1450029|A reaction that introduces an aminoacyl group to a molecule. TRANSFER RNA AMINOACYLATION is the first step in GENETIC TRANSLATION.|MSH|N|
C1455705|Accumulation of monoclonal CD1a-positive Langerhans cells in the bronchioles and alveolar interstitium that can cause damage to the lungs.|HPO|N|
C1455728|Acute fatty liver of pregnancy is a rare but severe complication occurring in the third trimester of pregnancy or in early postpartum period bearing a risk for perinatal and maternal mortality with manifestations of jaundice, rise of hepatic injuries and evolving to acute liver failure and encephalopathy.|SNOMEDCT_US|N|
C1455734|Deficiency of parathyroid hormone with congenital onset.|HPO|N|
C1455735|A growth disorder that is observed between the ages of 2 and 15, caused by extreme emotional deprivation or stress.|MONDO|N|
C1455991|The predisposition of an individual to develop a malignant ovarian neoplasm based on their heredity|NCI|N|
C1456162|A tooth erosion, non-bacterial that involves the dentine.|MONDO|N|
C1456163|A tooth erosion, non-bacterial that involves the dental pulp.|MONDO|N|
C1456240|A rare neurologic disease characterized by excessive daytime sleepiness associated with uncontrollable sleep urges and sometimes sleep paralysis, and hypnagogic/hypnopompic hallucinations.|ORDO|N|
C1456275|Diseases caused by abnormal function of the mitochondria. They may be caused by mutations, acquired or inherited, in mitochondrial dna or in nuclear genes that code for mitochondrial components. They may also be the result of acquired mitochondria dysfunction due to adverse effects of drugs, infections, or other environmental causes.|MONDO|N|
C1456333|An abnormal dilation of the rectum. There is a large filled rectum as a result of underlying innervation or muscular abnormalities, which remains after disimpaction of the rectum.|HPO|N|
C1456711|The exposure to incident light from the sun.|NCI|N|
C1456781|A circumscribed proliferation of melanocytes in the skin. It is characterized by the absence of atypical or malignant cytological features, and absence of invasive features or metastatic potential. Variants include the Spitz nevus, halo nevus, blue nevus, and balloon cell nevus.|NCI|N|
C1456784|An inappropriate feeling of being persecuted or being the subject of hostility from others.|HPO|N|
C1456822|Pain, cramping, and fatigue of the lower extremities upon ambulation due to ischemia.|NCI|N|
C1456852|Delivery of newborn by means of a ventouse, a vacuum device used to assist the delivery of a baby when the second stage of labor has not progressed adequately.|HPO|N|
C1456853|A benign, intermediate, or malignant vascular neoplasm that arises from the skin.|NCI|N|
C1456865|A concretion in the ureter.|NCI|N|
C1456876|Lawfully induced expulsion of all products of conception.|NCI|N|
C1457868|In an declined condition.|NCI|N|
C1457887|Subjective evidence of disease perceived by the patient.|NCI|N|
C1457898|Used with microorganisms, plants, and the postnatal period of animals for growth and development. It includes also the postnatal growth or development of organs or anatomical parts. For prenatal period of animals for growth and development use /embryology.|MSH|N|
C1458132|Having to do with the physical, psychological, cognitive, and social consequences of disease, including stigmatization of persons affected.|NCI|N|
C1458139|A malignant neoplasm arising from the blood vessels.|NCI|N|
C1458140|An abnormal susceptibility to bleeding, often referred to as a bleeding diathesis. A bleeding diathesis may be related to vascular, platelet and coagulation defects.|HPO|N|
C1458142|A rare, locally invasive neoplasm arising from tooth-forming tissues. It usually grows intraosseously in the mandible. The maxilla is less frequently involved. It is characterized by the presence of well differentiated squamous cells which form islands. Recurrences may rarely occur and probably are related to incomplete excision of the tumor.|NCI|N|
C1458155|A tumor (abnormal growth of tissue) of the breast.|HPO|N|
C1458156|The reemergence of a malignant neoplasm after a period of remission.|NCI|N|
C1504319|Deviation from the normal quantity of base excess, defined as the amount of strong acid (in millimoles per liter) that needs to be added in vitro to 1 liter of fully oxygenated whole blood to return a blood sample to standard conditions (pH of 7.40, Pco2 of 40 mm Hg, and temperature of 37 degrees C).|HPO|N|
C1504336|The presence of aneurysmal polypoidal lesions in the choroidal vasculature. The aneurysmal dilatations, also known as polyps, may be found at subfoveal, juxtafoveal, extrafoveal, peripapillary or even peripheral regions. These polypoidal dilatations may be visible as reddish-orange subretinal nodules during ophthalmoscopic examination. The polypoidal lesions are best detected on indocyanine green angiography (ICGA) and might be associated with a branching vascular network (BVN) of neovascularization.|HPO|N|
C1504369|A respiratory system disease with a basis in a pathological type I hypersensitivity reaction.|MONDO|N|
C1504382|Increase in mass of the tunica media of the arteries in the pulmonary circulation.|HPO|N|
C1504404|Hippocampal sclerosis is a neuropathologic finding characterized by neuronal loss and gliosis in the CA-1 and subiculum of the hippocampus.|HPO|N|
C1504405|Dysfunction of the corticospinal (pyramidal) tracts of the spinal cord. Symptoms include increased muscle tone in the lower extremities, hyperreflexia, positive Babinski, and decreased fine motor coordination.|NCI|N|
C1504412|Familial precocious puberty in boys usually presents by age 4 with rapid VIRILIZATION and is also characterized by gonadotropin-independent testosterone secretion, low secretion of LUTEINIZING HORMONE, and advanced SPERMATOGENESIS in the testis. Mutations in the LHCGR gene have been identified. OMIM: 176410|MSH|N|
C1504419|Bleeding within the pelvic cavity.|NCI|N|
C1504421|A complication during pregnancy; it occurs when the mother is Rh-negative and the infant is Rh-positive. This complication generally does not affect first-born Rh-positive babies. Rh-positive newborn babies from subsequent pregnancies develop complications of Rh incompatibility which include hemolysis, jaundice, enlarged liver and spleen, petechiae, hypotonia, neurologic damage, and heart problems.|NCI|N|
C1504431|An inflammatory lung disease characterized by diffuse interstitial pneumonitis and alveolitis leading to interstitial fibrosis in the absence of an identifiable infectious agent.|NCI|N|
C1504436|A pneumatocele is a thin walled, gas-filled space in the lung. It is most frequently caused by acute pneumonia, trauma, or aspiration of hydrocarbon fluid and is usually transient. The mechanism is believed to be a combination of parenchymal necrosis and check-valve airway obstruction. A pneumatocele appears as an approximately round, thin-walled airspace in the lung.|HPO|N|
C1504438|Narrowing or constriction of the inner surface (lumen) of a cerebral artery.|HPO|N|
C1504464|Persistent blood flow/pressure in the aneurysm sac following an endovascular aneurysm repair (EVAR) procedure.|NCI|N|
C1504506|Patella alta is a patella that rides abnormally high in relation to the femur, the femoral trochlea, or the tibia, with decreased bony stability requiring increased knee flexion angles to engage the trochlea.|HPO|N|
C1504507|Narrowing of a bronchial tube.|NCI|N|
C1504517|Sinding-Larsen-Johansson disease is a type of osteochondrosis affecting the attachment of the patellar tendon to the patella and characterised by tenderness and localized swelling of the patella.|ORDO|N|
C1504525|The reemergence of acute lymphoblastic leukemia after a period of remission.|NCI|N|
C1504558|Bleeding within the subependymal germinal matrix.|NCI|N|
C1504561|Reduced ingestion of food.|NCI|N|
C1504567|Narrowing or constriction of the inner surface (lumen) of the anterior cerebral artery.|HPO|N|
C1504568|Narrowing or constriction of the inner surface (lumen) of the middle cerebral artery.|HPO|N|
C1504569|Narrowing or constriction of the inner surface (lumen) of the posterior cerebral artery.|HPO|N|
C1506987|A molecular abnormality indicating rearrangement of the MLL (KMT2A) gene.|NCI|N|
C1507149|A severe deficiency of spermatogenesis. Chromosome Y deletions are a frequent genetic cause of male infertility. The mode of transmission follows a Y-linked pattern, with incomplete penetrance, but as deletions are often associated with infertility, they generally occur de novo. Molecular diagnosis is made by PCR amplification of STS type sequences (sequence-tagged sites) from the AZFa, b, and c regions. All chromosome Y deletions do not necessarily lead to infertility: firstly, some deletions (especially some partial deletions) do not result in spermatogenesis defects; secondly, among men with severe oligospermia, some can father children without infertility treatment. Finally, when mature spermatozoa are found in the sperm or in the testicles, the infertility problem can be solved with medically assisted procreation techniques. However, there is a risk of transmitting the microdeletion to every male infant.|SNOMEDCT_US|N|
C1508663|A somatic dysfunction usually characterized by a rib being held in a position of inhalation such that motion toward inhalation is more free and motion toward exhalation is restricted. Synonyms: inhaled rib, anterior rib, inhalation strain, elevated rib, exhalation restriction.|AOT|N|
C1509147|A neoplasm containing histiocytes.|HPO|N|
C1509148|A benign tumor that arises from the lung. It is characterized by the presence of sclerotic, papillary, solid, and hemorrhagic patterns and hyperplastic type II pneumocytes. Cholesterol clefts, hemosiderin deposition, chronic inflammation, and calcifications may be present. In the majority of cases, it is a solitary and peripheral tumor. Patients are usually asymptomatic.|MONDO|N|
C1510410|Misperception of existing odor, that is, distorted or altered olfactory perception in the presence of known stimuli.|HPO|N|
C1510411|The conversion of a cell from a normal phenotype, which undergoes a limited number of mitotic divisions, into an aberrant phenotype that is immortal and divides indefinitely. Transformed cells no longer retain cell-cycle checkpoints and may ultimately become malignant cancer cells via additional genetic mutations, or damaging environmental events.|NCI|N|
C1510412|A contained rupture of an artery with a disruption in all 3 layers of the arterial wall.|HPO|N|
C1510416|Vomit that has the appearance of coffee grounds, which occurs due to the presence of coagulated blood in the vomit.|HPO|N|
C1510417|Gait apraxia affecting the ability to make walking movements with the legs.|HPO|N|
C1510426|A choroid plexus carcinoma that occurs during childhood.|NCI|N|
C1510428|A bacterial, fungal, or parasitic abscess that develops in the cerebral hemispheres. Causes include skull trauma, middle ear infection, congenital heart disease, and frontal and ethmoid sinus infection.|NCI|N|
C1510429|Malfunction of a peripheral nerve resulting from mechanical compression of the nerve roots from internal or external causes and leading to a conduction block or axonal loss.|HPO|N|
C1510431|Inflammation of a superficial vein associated with venous thrombosis (blood clot formation within the vein).|HPO|N|
C1510449|Uveitis that is usually insidious in onset, bilateral, and can be asymptomatic, most often affecting the anterior uveal tract, including the iris and ciliary body, and can result in long-term complications. It is most commonly associated with certain forms of juvenile idiopathic arthritis, but may occur independent of arthritis.|NCI|N|
C1510455|A genetic disorder characterized by craniosynostosis and fusion of the fingers and toes.|NCI|N|
C1510456|Impairment in the comprehension of speech and meaning of words, both spoken and written, and of the meanings conveyed by their grammatical relationships in sentences. It is caused by lesions that primarily affect Wernicke''s area, which lies in the posterior perisylvian region of the temporal lobe of the dominant hemisphere. (From Brain & Bannister, Clinical Neurology, 7th ed, p141; Kandel et al., Principles of Neural Science, 3d ed, p846)|MSH|N|
C1510460|Oral-facial-digital syndrome type I (OFD1) is usually male lethal during gestation and predominantly affects females. OFD1 is characterized by the following features: Oral (lobulated tongue, tongue nodules, cleft of the hard or soft palate, accessory gingival frenulae, hypodontia, and other dental abnormalities). Facial (widely spaced eyes or telecanthus, hypoplasia of the alae nasi, median cleft or pseudocleft upper lip, micrognathia). Digital (brachydactyly, syndactyly, clinodactyly of the fifth finger; duplicated hallux [great toe]). Kidney (polycystic kidney disease). Brain (e.g., intracerebral cysts, agenesis of the corpus callosum, cerebellar agenesis with or without Dandy-Walker malformation). Intellectual disability (in ~50% of individuals).|GeneReviews|N|
C1510471|A disorder that is caused by the deficiency of a vitamin. The deficiency may result from either suboptimal vitamin intake or conditions that prevent the vitamin''s use or absorption in the body. Representative examples include beriberi caused by thiamine deficiency, scurvy caused by vitamin C deficiency, and rickets caused by vitamin D deficiency.|NCI|N|
C1510472|Chronic compulsive drug seeking and continued use despite harmful consequences.|HPO|N|
C1510475|A finding indicating the presence of multiple pouches, usually in the colonic or gastric wall.|NCI|N|
C1510479|A rare disorder of the peripheral nervous system characterized by the sudden onset of extreme pain in the upper extremity followed by rapid multifocal motor weakness and atrophy and a slow recovery in months to years. NA includes both an idiopathic (INA, also known as Parsonage-Turner syndrome) and hereditary (HNA) form.|ORDO|N|
C1510489|Describes a group of rare familial central nervous system disorders characterized by amyloid deposition in the cerebral blood vessels leading to hemorrhagic and non-hemorrhagic strokes, focal neurological deficits, and progressive cognitive decline eventually leading to dementia. Clinical features depend on the disease type. Most forms of HCHWA (Dutch, Arctic, Piedmont, Iowa, Flemish and Italian) are due to a point-mutation in the APP gene on chromosome 21q21.2, which encodes the beta-amyloid precursor protein. This mutation causes increased accumulation of amyloid-beta protein in the walls of cerebral arteries and capillaries. Only one form of HCHWA, Icelandic type, is due to a mutation in the CST3 gene on chromosome 20p11.2, encoding the precursor protein cystatin C.|SNOMEDCT_US|N|
C1510502|Oncocytomas are usually benign tumors that occur in various organs but particularly in the kidneys. Histologic evaluation of renal oncocytomas shows that they are composed entirely of peculiar epithelial cells with granular eosinophilic cytoplasm. Ultrastructural characterization exhibits densely packed cells with mitochondria, which show morphologic differences from those in normal cells. On the average they are larger than those in renal carcinoma cells and their shape is abnormal (summary by Welter et al., 1989).|OMIM|N|
C1510586|Autism spectrum disorder (ASD) is a condition that appears very early in childhood development, varies in severity, and is characterized by impaired social skills, communication problems, and repetitive actions. These difficulties can interfere with affected individuals' ability to function in social, academic, and employment settings. People with ASD also have an increased risk of psychiatric problems such as anxiety, depression, obsessive-compulsive disorder, and eating disorders.\n\nFrom as early as 1 to 2 years of age, people with ASD have an impaired ability to interact with other people; they are often more comfortable dealing with objects. Affected individuals have difficulty understanding and using non-verbal social cues such as eye contact, facial expressions, gestures, and body language. Inability to recognize and use these cues makes it hard for affected individuals to understand the feelings of others or communicate their own feelings appropriately. Signs of ASD, such as reduced eye contact and social interaction, can sometimes be detected before age 2. However, the condition is usually diagnosed between ages 2 and 4, when more advanced communication and social skills, such as learning to play with others, typically begin to develop.\n\nRepetitive actions in ASD can include simple actions such as rocking, hand-flapping, or repetition of words or noises (echolalia). Affected individuals often dwell on or repeatedly express particular thoughts; this trait is called perseveration. People with ASD tend to be rigid about their established routines and may strongly resist disruptions such as changes in schedule. They may also have difficulty tolerating sensory stimuli such as loud noises or bright lights.\n\nWhile social and communication difficulties and unusual actions define ASD, affected individuals can have a wide range of intellectual abilities and language skills. A majority of people with ASD have mild to moderate intellectual disability, while others have average to above-average intelligence. Some have particular cognitive abilities that greatly surpass their overall level of functioning, often in areas such as music, mathematics, or memory.\n\nSome people with ASD do not speak at all, while others use language fluently. However, fluent speakers with ASD often have problems associated with verbal communication. They might speak in a monotone voice, have unusual vocal mannerisms, or choose unusual topics of conversation.\n\nSeveral diagnoses that used to be classified as separate conditions are now grouped together under the diagnosis of ASD. For example, autistic disorder was a term that was used when affected individuals had limited or absent verbal communication, often in combination with intellectual disability. By contrast, Asperger syndrome was a diagnosis formerly applied to affected individuals of average or above-average intelligence who were not delayed in their language development. The broader diagnosis of ASD was established because many affected individuals fall outside of the strict definitions of the narrower diagnoses, and their intellectual and communication abilities may change over time. However, some individuals who were previously diagnosed with one of the subtypes now do not meet all the criteria of the new umbrella diagnosis.|MedlinePlus Genetics|N|
C1510662|transient unconjugated hyperbilirubinemia that occurs between the second and fifth days of life because the hepatic enzyme glucuronosyltransferase, required for bilirubin detoxification, is inadequate.|CSP|N|
C1510679|ABC Transporter Binding involves temporary non-covalent interaction of a molecule through intermolecular physical forces of attraction with the ABC Transporter complex to move the substrate across the plasma cell membrane against a concentration gradient.|NCI|N|
C1510697|A change in the nucleotide sequence of the ATM gene.|NCI|N|
C1510699|ATP Hydrolysis is the cleavage of a high-energy phosphate bond of adenosine triphosphate by the addition of water. The energy derived from hydrolysis of ATP is used to drive metabolic reactions including nucleic acid and protein synthesis, to move molecules against concentration gradients (active transport), and to produce mechanical motion (contraction of microfibrils and microtubules).|NCI|N|
C1510710|Abasic Site Formation involves the creation of an apurinic or apyrimidinic site resulting from the loss of a purine or pyrimidine residue from DNA.|NCI|N|
C1510712|An irregularity in the structure of chromosome 1.|NCI|N|
C1510713|An intestinal tract lesion where one or more crypts are enlarged and elevated above the surrounding mucosa. Additionally, these crypts often have a slit-shaped luminal opening. Cells are methylene blue positive on whole-mount sections of the intestinal mucosa.|NCI|N|
C1510741|The loss of a fluid from an abscess into the surrounding tissue or body cavity.|NCI|N|
C1510778|A malignant neoplasm of the ovary with an invasive epithelial component and a fibrotic stroma. Histologic variants include clear cell, serous, and mucinous adenocarcinofibroma.|NCI|N|
C1510784|A rare adenocarcinoma that arises from the epididymis. It usually presents as a scrotal mass and may be associated with testicular pain.|NCI|N|
C1510791|A rare, benign neoplasm that arises from the vulva It is characterized by the presence of clusters of small glands lined by mucinous epithelial cells. Bartholin duct structures are not present.|NCI|N|
C1510795|A usually benign tumor arising from the breast. It is characterized by the proliferation of cells with myoepithelial differentiation around spaces which are lined by epithelial cells. Rarely, the epithelial and/or myoepithelial cells may undergo malignant transformation. Cases with malignant transformation may follow an aggressive clinical course, including recurrences and local and distant metastases.|NCI|N|
C1510796|An invasive breast carcinoma characterized by the presence of tubular and glandular neoplastic cell structures, admixed with islands of neoplastic cells showing squamous differentiation.|NCI|N|
C1510811|the ability to nonspecifically stimulate the immune response.|NCI|N|
C1510821|A specific identifiable level (defined qualitatively or quantitatively) of probability of adverse event being caused or associated with the product or procedure administration to a patient.|NCI|N|
C1510847|A process in which the hydrogen ion concentration of a solution is decreased, resulting in an increase in alkalinity. Pharmaceuticals that have the capacity to buffer blood or urine solutes are often classified as alkaline agents.|NCI|N|
C1510865|A process that involves the binding of any member of the group of amino acid neurotransmitters, including glutamate, aspartate, serine, glycine and gamma-aminobutyric acid, to their respective receptors. These interactions are involved in neurotransmission.|NCI|N|
C1510872|The chemical reactions and pathways involving aminophosphonates, phosphonic acid derivatives that contain an amino group. [GOC:mah]|GO|N|
C1510881|Amyloid Fibril Interaction involves temporary non-covalent binding of a molecule through intermolecular physical forces of attraction with insoluble forms of a secretase-processed metal ion-binding type I cell surface glycoprotein (APP Family) required for endocytosis and basolateral sorting; important in developing synapses, for cell mobility, adhesion, and axonogenesis; and Notch signaling inhibitor, copper homeostasis regulator, transcription activator, and apoptosis enhancer.|NCI|N|
C1510882|Amyloid Resorption Induction involves initiation of activities involved in the breakdown and assimilation of amyloid deposits.|NCI|N|
C1510885|Loss of the balance between stimulation and inhibition of new blood vessel growth. A required early step in cancer growth and metastasis.|NCI|N|
C1510886|A term referring to the presence of tumor emboli or tumor masses within blood vessels (arteries or veins).|NCI|N|
C1510888|An angiosarcoma arising from the skin of the arm following radical mastectomy and resulting lymphedema.|NCI|N|
C1510891|A process that involves the non-covalent binding of angiotensin II to an angiotensin receptor family protein. These interactions are involved in signaling that modulates both blood vessel constriction and blood pressure.|NCI|N|
C1510900|Anion Transporter Binding involves temporary non-covalent interaction of a molecule through intermolecular physical forces of attraction with an anion transporter protein that moves the bound ion carrying a negative charge across a cell membrane with or against a concentration gradient.|NCI|N|
C1510961|A neurofibroma characterized by the presence of cellular pleomorphism.|MONDO|N|
C1511004|A process that involves the binding of an antigen to the transmembrane B cell receptor, an IgD molecule. These interactions are involved in signaling the B cell to be activated and to participate in immune function.|NCI|N|
C1511021|A change in the nucleotide sequence of the BRAF gene.|NCI|N|
C1511022|A mutation that is typically a heritable, permanent change in the nucleotide sequence of the BRCA1 gene. Single nucleotide substitutions and small deletions or insertions (1-20 bases) account for the majority of mutations in the BRCA1 gene. Approximately 75% of these alterations result in a truncated form of the breast cancer type 1 susceptibility protein. Mutations in the BRCA1 gene predispose individuals to breast and ovarian cancers.|NCI|N|
C1511023|A mutation in the BRCA1 gene that either leads to loss of expression or results in the translation of an inactive breast cancer type 1 susceptibility protein.|NCI|N|
C1511024|A mutation that is typically a heritable, permanent change in the nucleotide sequence of the BRCA2 gene. Single nucleotide substitutions and small deletions or insertions (1-20 bases) account for the majority of mutations in the BRCA2 gene. Most of these alterations result in a truncated form of the breast cancer type 2 susceptibility protein. Mutations in the BRCA2 gene predispose males to breast cancer.|NCI|N|
C1511025|A mutation in the BRCA2 gene that either leads to loss of expression or results in the translation of an inactive breast cancer type 2 susceptibility protein.|NCI|N|
C1511041|Interchanges of genetic material among different chromosomes following the breaking off of pieces of chromosomes such that the total chromosome composition may still contain all of the genetic material.Balanced Chromosomal Rearrangement.|NCI|N|
C1511047|A carcinoma that arises from the Bartholin gland and is characterized by the presence of islands of uniform malignant cells forming cribriform patterns.|NCI|N|
C1511048|A rare, benign neoplasm that arises from the Bartholin gland and is characterized by the presence of clustered glands and tubules lined by mucin-secreting epithelial cells.|NCI|N|
C1511049|A rare, benign neoplasm that arises from the Bartholin gland and is characterized by the presence of a fibromuscular stroma and glands lined by mucin-secreting epithelial cells, arranged in a lobular architecture.|NCI|N|
C1511050|A carcinoma that arises from the Bartholin gland and is characterized by the presence of malignant glandular epithelial cells and malignant squamous epithelial cells.|NCI|N|
C1511051|A rare small cell neuroendocrine carcinoma that arises from the Bartholin gland.|NCI|N|
C1511052|A carcinoma that arises from the Bartholin gland and is characterized by the presence of malignant squamous epithelial cells.|NCI|N|
C1511053|A rare carcinoma that arises from the Bartholin gland and is characterized by the presence of malignant urothelial-type epithelial cells.|NCI|N|
C1511055|A solid/multicystic ameloblastoma with follicular pattern in which the odontogenic epithelial islands are composed of uniform basaloid cells.|NCI|N|
C1511063|An aggressive variant of cervical squamous cell carcinoma characterized by the presence of nests of malignant basaloid squamous cells with scant amount of cytoplasm.|NCI|N|
C1511065|Base-Base Mismatch results from mutagenic factors that induce chemical modification of DNA bases so that pairing between specific bases on complementary DNA strands is eliminated causing mispairing.|NCI|N|
C1511086|A neoplasm that arises from the cervix and is characterized by the presence of benign epithelial and benign mesenchymal elements. This category includes adenofibroma and adenomyoma.|NCI|N|
C1511090|A cytologically benign smooth muscle neoplasm that arises from the uterine corpus and has metastasized to the lungs, abdomen, or lymph nodes. It usually presents in women with a history of benign uterine leiomyomas that have been surgically removed years before the extrauterine neoplasm spread.|NCI|N|
C1511091|A benign neoplasm that arises from the vulva and is characterized by the presence of epithelial cells forming nests and tubules in a fibrotic stroma. It may recur locally and complete excision is recommended.|NCI|N|
C1511098|A non-metastasizing neoplasm that arises from the ovary. It is characterized by a predominance of clear and hobnail benign epithelial cells.|NCI|N|
C1511100|A non-metastasizing neoplasm that arises from the ovary and is characterized by the presence of neoplastic epithelium that resembles the epithelium of the endocervix or gastrointestinal tract. There is no evidence of atypia. It includes mucinous adenofibroma, mucinous cystadenofibroma, and mucinous cystadenoma.|NCI|N|
C1511105|A neoplasm that arises from the vagina and is characterized by the proliferation of nests of benign melanocytes.|NCI|N|
C1511106|A non-metastasizing neoplasm that arises from the vagina and is characterized by the presence of benign epithelial and benign mesenchymal elements.|NCI|N|
C1511107|A non-metastasizing, well circumscribed neoplasm that arises from the vagina and is characterized by the presence of a predominant benign mesenchymal component and benign glandular or squamous epithelial cells.|NCI|N|
C1511111|A change in the nucleotide sequence of the CTNNB1 gene.|NCI|N|
C1511130|A linked series of non-equivalent biochemical interactions and enzymatic reactions, and/or a linked series of biochemical processes.|NCI|N|
C1511131|A chemical process, typically mediated by an enzyme, in which one or more substances (a substrate) are transformed by covalent modification into another substance(s) (a product) or in which the state of a substance is transformed.|NCI|N|
C1511144|Studies of the role of non-viral biological agents as factors or cofactors in the etiology of human and animal cancer.|NCI|N|
C1511183|Location on a DNA strand where the phosphate backbone is intact but the nitrogenous base has been lost from both DNA strands.|NCI|N|
C1511187|A rare morphologic variant of bladder adenocarcinoma characterized by the presence of malignant glandular epithelial cells and clear cells forming a diffuse pattern.|NCI|N|
C1511188|A rare adenocarcinoma that arises in the bladder. It is characterized by intestinal type glands and resembles colonic adenocarcinoma.|NCI|N|
C1511189|A rare variant of bladder adenocarcinoma. It is characterized by the presence of a mixture of polygonal hepatoid cells and glandular adenocarcinoma cells.|NCI|N|
C1511190|An endophytic urothelial neoplasm arising from the bladder. It shares several morphologic features with urothelial papilloma.|NCI|N|
C1511192|A variant of bladder adenocarcinoma that histologically consists of more than one growth pattern such as enteric, mucinous or signet ring types.|NCI|N|
C1511193|A rare primary adenocarcinoma of the bladder. Histologically it is characterized by malignant cells floating in pools of mucin.|NCI|N|
C1511194|A rare mucosa-associated lymphoid tissue lymphoma affecting the bladder.|NCI|N|
C1511196|A rare morphologic variant of bladder adenocarcinoma characterized by the presence of malignant glandular epithelial cells and clear cells forming a papillary pattern.|NCI|N|
C1511197|A neoplasm with papillary architectural pattern arising from the bladder urothelial cells.|NCI|N|
C1511199|A rare, benign neoplasm of bladder that is composed of papillary cores with overlying histologically benign squamous epithelium.|NCI|N|
C1511203|A rare morphologic variant of bladder carcinoma characterized by the presence of malignant glandular epithelial cells and clear cells forming a tubulo-cystic pattern.|NCI|N|
C1511206|A rare variant of bladder urachal carcinoma with squamous cell features.|NCI|N|
C1511207|A urothelial carcinoma of the urinary bladder that arises from the urachal epithelium.|NCI|N|
C1511208|A rare variant of well differentiated squamous cell carcinoma, usually associated with bladder schistosomiasis.|NCI|N|
C1511235|The loss of any normal body fluid into the surrounding tissue or body cavity.|NCI|N|
C1511254|A neoplasm of low malignant potential arising from the fallopian tube. It is characterized by the presence of glandular or cystic spaces which contain atypical glandular epithelial cells resembling endometrial cells. There is no evidence of stromal invasion.|NCI|N|
C1511255|A neoplasm of low malignant potential arising from the fallopian tube. It is characterized by an atypical proliferation of mucinous-type epithelial cells without evidence of stromal invasion.|NCI|N|
C1511256|A rare epithelial tumor arising from the fallopian tube without definitive morphologic characteristics of malignancy. This category includes borderline mucinous and serous neoplasms and borderline endometrioid tumor.|NCI|N|
C1511257|A neoplasm of low malignant potential arising from the fallopian tube. It is characterized by an atypical proliferation of serous-type epithelial cells without evidence of stromal invasion.|NCI|N|
C1511259|A non-invasive clear cell adenofibromatous neoplasm that arises from the ovary. It is characterized by the presence of atypical neoplastic clear or hobnail epithelial cells and intraepithelial carcinoma.|NCI|N|
C1511260|An epithelial neoplasm with low malignant potential affecting the ovary. It is characterized by the presence of prominent cystic spaces lined with atypical clear or hobnail cells. There is no evidence of stromal invasion.|NCI|N|
C1511261|An epithelial neoplasm with low malignant potential affecting the ovary. It is characterized by the presence of clear or hobnail cells. In some cases, the cells may display nuclear atypia and prominent nucleoli. When such cells are present, they remain confined to the glands. There is no evidence of stromal invasion.|NCI|N|
C1511262|An epithelial neoplasm that arises from the ovary characterized by the presence of glandular or cystic spaces which contain atypical glandular epithelial cells resembling endometrial cells. The surrounding ovarian stroma is fibrotic. There is no evidence of stromal invasion.|NCI|N|
C1511263|A low grade mucinous epithelial neoplasm arising from the ovary. It is characterized by an atypical proliferation of mucinous-type epithelial cells without evidence of stromal invasion. The mucinous epithelial cells may be of intestinal or endocervical type.|NCI|N|
C1511264|A neoplasm of low malignant potential arising from the ovary. It is characterized by the proliferation of neoplastic epithelial cells that resemble endocervical epithelial cells. There is no evidence of stromal invasion.|NCI|N|
C1511265|A neoplasm of low malignant potential arising from the ovary. It is characterized by the proliferation of neoplastic mucinous epithelial cells that resemble intestinal epithelial cells. There is no evidence of stromal invasion.|NCI|N|
C1511266|A low malignant potential adenofibroma arising from the ovary. It is characterized by an atypical epithelial hyperplasia. The epithelial cells are of serous type. There is no evidence of stromal destructive invasion.|NCI|N|
C1511267|A neoplasm of low malignant potential arising from the ovary. It is characterized by the presence of cystic spaces which are lined by atypical serous epithelial cells. The surrounding ovarian stroma is fibrotic. There is no evidence of stromal invasion.|NCI|N|
C1511268|A neoplasm of low malignant potential arising from the ovary. It is characterized by the presence of papillary proliferations of atypical serous epithelial cells and a cystic component. There is no evidence of stromal invasion.|NCI|N|
C1511269|A neoplasm of low malignant potential arising from the ovary. It is characterized by the presence of papillary proliferations that contain atypical serous epithelial cells in the outer surface of the ovary. There is no evidence of stromal invasion.|NCI|N|
C1511270|A low grade ovarian epithelial neoplasm characterized by the presence of neoplastic serous epithelial cells, atypia, and microinvasion of the ovarian stroma.|NCI|N|
C1511272|A rare borderline tumor that arises from the broad or other uterine ligaments. The majority of the reported cases are serous cystic tumors.|NCI|N|
C1511275|A morphologic variant of embryonal rhabdomyosarcoma arising from the vagina. It is characterized by the formation of a cambium layer in the affected tissue and polypoid nodules within an abundant myxoid stroma.|NCI|N|
C1511281|An invasive adenocarcinoma of the breast usually affecting post-menopausal women, characterized by extensive spindle cell metaplasia of the neoplastic glandular cells.|NCI|N|
C1511282|A breast hamartoma characterized by the presence of brown fat that contains entrapped glands.|NCI|N|
C1511283|An uncommon variant of breast adenosis characterized by the presence of irregularly shaped glands, epithelial cells with eosinophilic cytoplasm, and prominent myopepithelial cells. Mild atypia may be present.|NCI|N|
C1511284|A benign diffuse vascular proliferation in the breast. It is characterized by the formation of capillary-sized and cavernous vascular spaces.|NCI|N|
C1511285|A neoplastic process characterized by the proliferation of spindle to cuboidal myoepithelial cells in and around small breast ducts exhibiting cytologic atypia and mitotic activity.|NCI|N|
C1511286|A Burkitt lymphoma that arises from the breast. It usually affects pregnant or lactating women and presents with bilateral breast involvement and breast swelling.|NCI|N|
C1511302|An invasive ductal breast carcinoma, not otherwise specified, characterized by increased levels of human beta-chorionic gonadotropin in the serum. Morphologic evidence of choriocarcinomatous differentiation is rare.|NCI|N|
C1511303|A very rare primary malignant tumor of the breast, characterized by an invasive breast carcinoma that co-exists with a melanoma component. The vast majority of melanotic tumors that affect the breast are metastatic melanomas that originate in extra-mammary sites.|NCI|N|
C1511304|An invasive breast adenocarcinoma characterised by the presence of non-neoplastic stromal osteoclastic giant cells. The carcinomatous component is usually an invasive ductal carcinoma, although all other breast adenocarcinoma subtypes have also been described. The prognosis depends on the characteristics of the adenocarcinomatous component, and is not related to the presence of the giant cells.|NCI|N|
C1511305|An invasive breast adenocarcinoma characterized by the presence of tall columnar neoplastic cells that contain intracytoplasmic mucin. Grossly, cystic changes are not identified.|NCI|N|
C1511306|A diffuse large B-cell lymphoma that arises from the breast. It is the most common type of primary breast lymphoma.|NCI|N|
C1511307|A benign, well circumscribed neoplasm that is located within the lumen of a duct in the breast parenchyma. It is characterized by the presence of glandular structures at the periphery and fibrous tissue at the center of the tumor.|NCI|N|
C1511309|A benign, malignant, or borderline biphasic neoplasm that arises from the breast parenchyma. It is characterized by the presence of an epithelial and a mesenchymal (stromal) component. The typical examples are fibroadenoma and phyllodes tumor.|NCI|N|
C1511311|A follicular lymphoma that arises from the breast as a primary tumor.|NCI|N|
C1511312|A usually benign neoplasm that arises from the breast. It presents as a single, firm, and painless mass. It is characterized by the presence of neoplastic cells with eosinophilic granular cytoplasm.|NCI|N|
C1511313|A hemangiopericytoma arising from the breast.|NCI|N|
C1511315|A multinodular intermediate fibroblastic neoplasm arising from the breast. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes, and plasma cells.|NCI|N|
C1511316|A poorly differentiated neuroendocrine carcinoma that arises from the breast. It is characterized by the presence of large neuroendocrine cells and high mitotic activity.|NCI|N|
C1511317|A well-circumscribed benign smooth muscle neoplasm arising from the breast. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.|NCI|N|
C1511318|An invasive breast adenocarcinoma characterized by the presence of tall columnar neoplastic cells that contain intracytoplasmic mucin. Grossly, cystic changes are identified.|NCI|N|
C1511319|A benign or malignant tumor that arises from the breast and originates from or is composed of myoepithelial cells. Representative examples include adenomyoepithelioma, myoepitheliosis, and malignant myoepithelioma.|NCI|N|
C1511320|A myofibroblastoma occurring in the breast of both women and men. It presents as a slowly growing mass.|NCI|N|
C1511321|A breast hamartoma characterized by the predominance of a smooth muscle component.|NCI|N|
C1511322|A rare, benign and well circumscribed neoplasm that arises from the breast. It is characterized by the proliferation of epithelial and myoepithelial cells surrounded by chondroid stroma.|NCI|N|
C1511323|A benign, intermediate, or malignant mesenchymal neoplasm that arises from the breast.|NCI|N|
C1511339|A malignant neoplasm that affects the bulbomembranous part of the urethra.|NCI|N|
C1511341|Bulk at a site (other than the mediastinum) where any mass measures 10 cm or more by an imaging study.|NCI|N|
C1511354|A point mutation of the KIT gene that originated in non-germline cells.|NCI|N|
C1511355|A molecular abnormality indicating the presence of an abnormally high level of the mast/stem cell growth factor receptor Kit protein.|NCI|N|
C1511357|A cytogenetic abnormality that refers to the translocation of the MYC gene to a new chromosomal location.|NCI|N|
C1511408|Expression of a fusion protein that results from an inversion or translocation, which involves the human genes CBFB and MYH11 and is associated with acute myeloid leukemias.|NCI|N|
C1511413|A molecular genetic abnormality indicating the presence of multiple copies of the CCND1 gene.|NCI|N|
C1511414|A molecular genetic abnormality indicating the presence of multiple copies of the CCNE1 gene.|NCI|N|
C1511421|A finding that a sample of neoplastic cells has detectable immunoreactivity for CD30 (TNFRSF8).|NCI|N|
C1511430|A mutation in the CDKN2A gene that either inhibits expression of the CDKN2A protein or results in the translation of an inactive CDKN2A protein.|NCI|N|
C1511432|A change in the nucleotide sequence of the CDKN2C gene.|NCI|N|
C1511442|A change in the nucleotide sequence of the CHEK2 gene.|NCI|N|
C1511460|The series of molecular signals initiated by a the C-X-C chemokine type 4 receptor on the surface of a cell binding to one of it''s physiological ligands, and ending with the regulation of a downstream cellular process, e.g. transcription. [GOC:nhn, GOC:signaling]|GO|N|
C1511473|Mutation of the CEBPA gene encoding CCAAT/enhancer binding protein alpha. It is seen in acute myeloid leukemias usually associated with a normal karyotype.|NCI|N|
C1511492|A term that usually refers to the clinical course of lymphomas and indicates that the cancerous lymph nodes are next to each other.|NCI|N|
C1511517|Copper Chelation involves non-covalent coordination bonding between copper and an organic chemical, often as part of an enzyme.|NCI|N|
C1511520|Assembly of virus core.|NCI|N|
C1511539|A physical connection between two atoms or radicals in which a chemical bond is formed by sharing electrons.|NCI|N|
C1511566|A B-cell non-Hodgkin lymphoma arising from the skin. Representative examples include cutaneous marginal zone B-cell lymphoma and cutaneous follicle center lymphoma.|NCI|N|
C1511570|The chemical reactions and pathways involving cyanoamino acids, amino acid derivatives that contain a cyanide group. [GOC:mah, PMID:11575729]|GO|N|
C1511577|A molecular abnormality indicating the presence of an abnormally high level of CCND1 mRNA.|NCI|N|
C1511578|A molecular abnormality indicating the presence of an abnormally high level of the G1/S-specific cyclin-D1 protein.|NCI|N|
C1511583|Cyclooxygenase Interaction involves temporary non-covalent binding, typically through intermolecular physical forces of attraction and spatial complementarity, between a molecular entity and Cyclooxygenase, an enzyme complex that catalyzes the formation of prostaglandins from unsaturated fatty acid, molecular oxygen, and a reduced acceptor.|NCI|N|
C1511605|A microscopic finding indicating the formation of cystic structures in a tissue sample.|NCI|N|
C1511606|A pathologic process that contains a single or multiple sac-like spaces.|NCI|N|
C1511616|A process that involves the binding of any member of the cytokine family to a cognate cytokine receptor. These interactions are involved in the regulation of responses that promote antibody synthesis and cellular immune functions.|NCI|N|
C1511617|Any environment-to-cell cummunication that involves cytokines. This process is involved in immune function.|NCI|N|
C1511660|DNA Adduction involves formation of a covalent bond between a molecule and the DNA macromolecule.|NCI|N|
C1511665|DNA Crosslinking involves the formation of a covalent bond between two bases on DNA. (NCI)|NCI|N|
C1511667|A DNA Double Strand Break involves a disruption of the covalent linkages among the phosphodeoxyribose moieties within the sugar-phosphate backbone in both strands of a DNA molecule.|NCI|N|
C1511668|Energetics and biophysical mechanisms of DNA higher order structure|NCI|N|
C1511674|DNA Interstrand Crosslinking involves the formation of a covalent bond between two bases on different DNA strand. (NCI)|NCI|N|
C1511675|DNA Intrastrand Crosslinking involves the formation of a covalent bond between two bases on the same DNA strand. (NCI)|NCI|N|
C1511679|DNA Methylation Inhibition involves interference with, or restraint of, the process by which methyl groups are added to genomic DNA nucleotides.|NCI|N|
C1511680|DNA Methylation Regulation involves cellular mechanisms that control covalent addition of methyl groups to specific cytosine residues of a DNA molecule, which typically influence gene expression and other genetic functions.|NCI|N|
C1511690|DNA sequence errors introduced via DNA replication.|NCI|N|
C1511698|A DNA Single Strand Break involves one or more disruptions of the covalent linkages among phosphodeoxyribose moieties within the sugar-phosphate backbone in one strand of a DNA molecule.|NCI|N|
C1511706|A mutation in the SMAD4 gene that either inhibits the expression of or results in the translation of an inactive mothers against decapentaplegic homolog 4 protein.|NCI|N|
C1511737|Deacetylation is the covalent chemical or post-translational biochemical removal of an acetyl group(s) from organic compounds.|NCI|N|
C1511739|Refers to a mechanism leading to a fixed state of immunity that fails to adapt to a changing pathogen and has lost the ability to discriminate antigen after the establishment of a strong primary immune response.|NCI|N|
C1511756|Definite adverse event attribution to study product or procedure is established when there is a clear-cut temporal association between product or procedure administration and adverse event, and no other possible cause is present.|NCI|N|
C1511760|Any rearrangement to the genomic content that results in the loss of one or more nucleotides of DNA. Deletions are generally irreversible rearrangements. They may alter the reading frame of a gene, or may result in loss of large chromosomal regions.|NCI|N|
C1511789|This term refers to the growth of fibrous or connective tissue. Some tumors elicit a desmoplastic reaction, the pervasive growth of dense fibrous tissue around the tumor. Scar tissue (adhesion) within the abdomen after abdominal surgery is another type of desmoplastic reaction. (MedicineNet.com)|NCI|N|
C1511887|A characteristic of an organism that contributes to the diagnosis or treatment of a disease or to the prediction of clinical outcomes.|NCI|N|
C1511934|A neuroblastoma in which the differentiating neuroblasts constitute more than five-percent of the tumor cells.|NCI|N|
C1511954|A syndrome characterized by multiple, benign nodular smooth muscle neoplasms of the esophagus, tracheobronchial tree and the genitourinary tract. Clinical signs include dysphagia with retrosternal pain, dyspnea and genital hypertrophy. There is a strong association with Alport Syndrome in patients with deletions in the type IV collagen alpha chain genes COL4A5 and COL4A6.|NCI|N|
C1512032|Any mutation that encodes an altered gene product that acts to antagonize the wild-type allele. Dominant negative mutations are characterized by a dominant or semi-dominant phenotype, and usually result in loss of function.|NCI|N|
C1512047|An extrachromosomal circular DNA located in the nucleus that is relatively small in size and contains chromatin but lacks a centromere and telomeres. These circular DNAs are found in tumor cells and are able to replicate during cell division during chromosome replication. They often contain extra copies of oncogenes and/or genes involved in drug resistance and lack transcription regulatory elements. Unregulated expression of genes present in these structures may play a role in tumor growth and tumor cell survival.|NCI|N|
C1512072|Transport of drugs out of a cell. A mechanism of drug resistance.|NCI|N|
C1512073|A finding indicating a deficiency or excess in metabolism of one or more drugs.|NCI|N|
C1512074|Drug Metabolism Induction involves the initiation of enzymatic biotransforming chemical modifications exerted on a naturally occurring or synthetically produced organic or inorganic substances, elements, and isotopes used in research or for prevention, diagnosis, and /or treatment of disease states.|NCI|N|
C1512075|Drug Metabolism Inhibition involves interference with, or restraint of, enzymatic biotransforming chemical modifications exerted on a naturally occurring or synthetically produced organic or inorganic substances, elements, and isotopes used in research or for prevention, diagnosis, and /or treatment of disease states.|NCI|N|
C1512110|Expression of a fusion protein that results from a t(1;19)(q23;p13) translocation, which involves the human genes E2A and PBX1 and is associated with B lymphoblastic leukemias.|NCI|N|
C1512116|A molecular genetic abnormality indicating the presence of multiple copies of the EGFR gene.|NCI|N|
C1512117|A molecular genetic abnormality indicating the presence of an abnormally high level of EGFR protein.|NCI|N|
C1512122|An electrocardiographic finding about the position of the heart in the chest (axis). The electrical axis of the heart is a term used to describe the mean direction and magnitude of electrical impulses generated by the heart during the cardiac cycle. Normally, the heart is positioned in the chest so that the majority of the electrical impulse travels downward (interior) and towards the left. The normal axis of the heart is called normal axis deviation. Age, body build, and sex may influence axis location and produce a number of normal variations. The axis may deviate from normal position due to structural problems (valve conditions), pulmonary or systemic hypertension and/or heart attacks.|NCI|N|
C1512127|A molecular genetic abnormality indicating the presence of multiple copies of the ERBB2 gene.|NCI|N|
C1512128|The series of molecular signals initiated by binding of a ligand to the tyrosine kinase receptor ERBB2 on the surface of a cell. The pathway ends with regulation of a downstream cellular process, e.g. transcription. ERBB2 receptors are themselves unable to bind to ligands, but act as a signal-amplifying tyrosine kinase within a heterodimeric pair. [GOC:jc, PMID:16460914, Reactome:R-HSA-1227986]|GO|N|
C1512144|Expression of a fusion protein that results from a t(3;21)(q26;q22) translocation, which involves the human genes EVI1 and RUNX1 and is associated with chronic myelogenous leukemia.|NCI|N|
C1512177|Eicosanoid Degradation consists of conjugation, transport, and/or oxidation of hormone-like endogenous unsaturated and oxygenated fatty acid derivatives of arachidonic acid (eicosanoids) that act near the site of synthesis and have a specific regulatory effect on the activity of target cells in host defense reactions, immediate hypersensitivity, and inflammation. Eicosanoids include prostaglandins, leukotrienes, thromboxanes, and hydroxyeicosatetraenoic acid compounds.|NCI|N|
C1512194|A classic form of gliomatosis cerebri. It is characterized by diffuse growth of neoplastic glial tissue without any focal mass.|NCI|N|
C1512200|A morphologic finding that refers to microvascular proliferation that resembles glomeruloid structures. It is seen in gliomas.|NCI|N|
C1512202|A process that involves the non-covalent binding of glucogon to the glucogon receptor. This interaction plays a role in the initiation of a Gs protein-dependent signaling cascade, which modulates both blood glucose levels and gluconeogenesis.|NCI|N|
C1512209|Glucose Transport Induction consists of the initiation of subcellular or molecular processes directly involved in the physical translocation from one site or compartment to another (typically, extracellular to intracellular) of the simple C6H12O6 monosaccharide, glucose, that acts as an energy source for cells.|NCI|N|
C1512210|Glucose Transport Inhibition involves interference with, or restraint of, subcellular or molecular processes directly involved in the physical translocation from one site or compartment to another (typically, extracellular to intracellular) of the simple C6H12O6 monosaccharide, glucose, that acts as an energy source for cells.|NCI|N|
C1512221|A process that involves the binding of glycine to a glycine receptor. These interactions are involved in various activities, including synaptic plasticity, learning, memory and inhibition of neurotransmission.|NCI|N|
C1512241|1) To direct or use toward the Golgi apparatus as a target. Targeting of the Golgi apparatus by specific substances to disrupt or alter its function. 2) Related to structural elements in a protein, such as a peptide sequence, that directs the localization of a protein or protein complex to the Golgi apparatus.|NCI|N|
C1512249|Endometrial endometrioid adenocarcinoma exhibiting 5% or less solid non-glandular, non-squamous growth.|NCI|N|
C1512250|A primary mucinous adenocarcinoma of the endometrium that contains equal to or less than 5% non-squamous solid areas.|NCI|N|
C1512252|Endometrial endometrioid adenocarcinoma exhibiting 6-50% solid non-glandular, non-squamous growth.|NCI|N|
C1512253|A primary mucinous adenocarcinoma of the endometrium that contains 6-50% non-squamous solid areas.|NCI|N|
C1512255|Endometrial endometrioid adenocarcinoma exhibiting more than 50% solid non-glandular, non-squamous growth.|NCI|N|
C1512256|A primary mucinous adenocarcinoma of the endometrium that contains more than 50% non-squamous solid areas.|NCI|N|
C1512259|An atypical meningioma which may recur in approximately 29-40% of the cases. This category includes the atypical meningioma, chordoid meningioma, and clear cell meningioma.|NCI|N|
C1512260|A benign meningioma which may recur in approximately 7-20% of the cases. This category includes the angiomatous meningioma, fibrous meningioma, lymphoplasmacyte-rich meningioma, meningothelial meningioma, metaplastic meningioma, microcystic meningioma, psammomatous meningioma, secretory meningioma, and transitional meningioma.|NCI|N|
C1512271|An indication that the number of granulocytes in a bone marrow sample have increased when compared to a normal baseline or a previous sample measurement.|NCI|N|
C1512301|HIV Budding is a process in which newly generated viral RNA and protein complexes are assembled at, packaged in, and released from the cell surface membrane taking a piece of the cell membrane to form their own viral membranes. To bud from infected cells, HIV-1 employs several host proteins such as endosomal sorting protein Tsg101, which functions in the Vps pathway. The L domain (PTAP) in the p6 domain of HIV-1 Gag interacts with the N-terminal domain of TSG101; the Vps28-binding domain of TSG101 inhibits budding.|NCI|N|
C1512323|A molecular genetic abnormality indicating the presence of multiple copies of the FGF4 gene.|NCI|N|
C1512383|Hematopoiesis Inhibition involves interference or restraint of a process of blood formation; more specifically formation of blood cells that are all derived from hematopoietic stem cells.|NCI|N|
C1512393|Neoplasms of the hematopoietic system, including hematopoietic cell neoplasms (e.g. leukemias, lymphomas) and non-hematopoietic cell neoplasms that can affect the hematopoietic system (e.g. lymph node and splenic sarcomas).|NCI|N|
C1512404|Passage or transfer, as of a disease, affecting recipients who suffer from hemophilia. (NCI)|NCI|N|
C1512406|Heparan Sulfate Biosynthesis consists of cellular enzymatic reactions that produce heparan sulfate, a glycosaminoglycan of repeating disaccharide units, in most cell plasma membranes. Heparan Sulfate accumulates in several mucopolysaccharidoses.|NCI|N|
C1512409|The processes which result in cancers in the liver.|NCI|N|
C1512418|Fallopian tube carcinoma that has developed in relatives of patients that have a history of fallopian tube carcinoma.|NCI|N|
C1512419|Melanoma is a type of skin cancer that begins in pigment-producing cells called melanocytes. This cancer typically occurs in areas that are only occasionally sun-exposed; tumors are most commonly found on the back in men and on the legs in women. Melanoma usually occurs on the skin (cutaneous melanoma), but in about 5 percent of cases it develops in melanocytes in other tissues, including the eyes (uveal melanoma) or mucous membranes that line the body's cavities, such as the moist lining of the mouth (mucosal melanoma). Melanoma can develop at any age, but it most frequently occurs in people in their fifties to seventies and is becoming more common in teenagers and young adults.\n\nA large number of moles or other pigmented skin growths on the body, generally more than 25, is associated with an increased risk of developing melanoma. Melanoma is also a common feature of genetic syndromes affecting the skin such as xeroderma pigmentosum. Additionally, individuals who have previously had melanoma are nearly nine times more likely than the general population to develop melanoma again. It is estimated that about 90 percent of individuals with melanoma survive at least 5 years after being diagnosed.\n\nMelanoma may develop from an existing mole or other normal skin growth that becomes cancerous (malignant); however, many melanomas are new growths. Melanomas often have ragged edges and an irregular shape. They can range from a few millimeters to several centimeters across. They can also be a variety of colors: brown, black, red, pink, blue, or white.\n\nMost melanomas affect only the outermost layer of skin (the epidermis). If a melanoma becomes thicker and involves multiple layers of skin, it can spread to other parts of the body (metastasize).|MedlinePlus Genetics|N|
C1512424|Heterodimerization involves a biophysical interaction between two dissimilar biological molecules or subunits, such as between two proteins. The interaction is often mediated by a biophysical interaction between one or more specific domains within each subunit and, typically, significantly influences the function of each subunit.|NCI|N|
C1512430|The presence of genomic instability associated with defective DNA mismatch repair in greater than 30% of the microsatellite instability (MSI) biomarkers in a tumor sample.|NCI|N|
C1512432|A high grade B-cell lymphoma showing greater pleomorphism in nuclear size and shape than the classical Burkitt lymphoma.|NCI|N|
C1512433|A precancerous neoplastic process that affects the cervical squamous epithelium. It is usually associated with human papillomavirus infection. It is classified as cervical squamous intraepithelial neoplasia 2 when there is nuclear atypia in both the upper and lower epithelial layers, mitotic figures are confined to the basal two-thirds of the epithelium, and maturation is present in the upper half of the epithelium. It is classified as cervical squamous intraepithelial neoplasia 3 when there is nuclear atypia and mitotic figures throughout the entire thickness of the epithelium, and maturation is absent or confined to the upper third of the epithelium.|NCI|N|
C1512434|Bladder non-invasive papillary urothelial carcinoma characterized by marked architectural and cytologic abnormalities and frequent mitotic figures (at all levels of the urothelium).|NCI|N|
C1512435|High grade prostatic intraepithelial neoplasia characterized by the presence of large glands with papillary infoldings that contain cells with xanthomatous cytoplasm.|NCI|N|
C1512436|High grade prostatic intraepithelial neoplasia characterized by the presence of secretory cells with their nuclei polarized towards the lumen of the glands.|NCI|N|
C1512437|High grade prostatic intraepithelial neoplasia characterized by the presence of masses of mucin within the affected distended glands.|NCI|N|
C1512438|High grade prostatic intraepithelial neoplasia characterized by the presence of signet ring cells in the affected glands.|NCI|N|
C1512439|High grade prostatic intraepithelial neoplasia characterized by the presence of small neuroendocrine cells in the affected glands.|NCI|N|
C1512467|Histamine Degradation consists of conjugation, transport, oxidation, or enzymatic breakdown of a decarboxylation product of histidine (histamine), found particularly in mast cells and basophils, and involved in capillary dilation and permeability; blood pressure decrease; smooth muscle contraction; gastric secretion; heart rate acceleration; immediate hypersensitivity; and central neurotransmission.|NCI|N|
C1512469|A process that involves the non-covalent binding of histamine to one of four known histamine receptor proteins. These interactions play a role in signaling pathways that modulate vasodilation, neurotransmitter release, gastric acid secretion, neutrophil release and smooth muscle contraction and relaxation.|NCI|N|
C1512485|Homodimerization involves a biophysical interaction between two identical biological molecules or subunits, such as proteins. The interaction is often mediated by a biophysical interaction between one or more specific domains within the subunits and, typically, significantly influences the function of the subunits.|NCI|N|
C1512486|A region on a chromosome which, when stained, is uniform in appearance. (Normally, a stained chromosome shows a banding pattern.) Homogeneously staining regions contain multiple copies of a single gene. (Online Medical Dictionary)|NCI|N|
C1512508|An infectious process caused by the human herpesvirus 8. This infection is associated with Kaposi sarcoma.|NCI|N|
C1512510|A rare urethral squamous cell carcinoma that is related to human papilloma virus (HPV) infection of the urinary tract.|NCI|N|
C1512608|A state of ill health caused by medical treatment, usually due to mistakes made in treatment.|NCI|N|
C1512662|A process that involves the binding of an immunoglobulin on the surface of a B cell to a cognate antigen on the surface of a follicular dendritic cell, resulting in a strong survival signal for the immunoglobulin-bearing cell. These interactions are involved in activation, proliferation and maturation of selected B cells and apoptosis of non-selected populations.|NCI|N|
C1512671|Immunologic Factor Interaction involves temporary non-covalent binding through intermolecular physical forces of attraction and often spatial complementarity with antibody or cytokine proteins that affect immune functions, immune responses, or inflammation.|NCI|N|
C1512680|Impaired Cell Membrane Integrity consists of activities that interfere with, or restrain, fabrication, construction, or maintenance of the regular structure and function of semipermeable lipid bilayer membranes that surround or reside within a cell.|NCI|N|
C1512695|A genetic finding indicating that there is increased activation of the NFkappaB pathway.|NCI|N|
C1512696|An indication that the portion of total blood volume occupied by erythrocytes in a sample have increased when compared to normal levels or a previous measurement.|NCI|N|
C1512706|A record of a patient''s medical background regarding the occurrence of cancer and cancer-related problems.|NCI|N|
C1512709|A rare large granular lymphocyte leukemia characterized by persistent (> 6 months) natural killer cell lymphocytosis in the absence of clinical diagnosis of leukemia/lymphoma, autoimmune disease, or chronic viral infections. The clinical course is variable, but generally indolent. Patients often remain asymptomatic, or may present with clinical manifestations including vasculitic skin lesions, neutropenic infections, musculoskeletal symptoms, peripheral neuropathy, or splenomegaly.|ORDO|N|
C1512736|Invasive bladder urothelial carcinoma with lymphoepithelioma-like features.|NCI|N|
C1512737|An invasive urothelial carcinoma of the bladder characterized by the presence of clear (glycogen-rich) cells.|NCI|N|
C1512738|Invasive bladder urothelial carcinoma characterized by the presence of lipid laden tumor cells.|NCI|N|
C1512740|Invasive bladder urothelial carcinoma characterized by microcysts formation.|NCI|N|
C1512741|Invasive bladder urothelial carcinoma characterized by a nested growth pattern.|NCI|N|
C1512742|Invasive bladder urothelial carcinoma characterized by the presence of malignant cells with plasmacytoid features.|NCI|N|
C1512743|An invasive urothelial carcinoma of the bladder that exhibits spindle cell sarcomatoid features.|NCI|N|
C1512744|Invasive bladder sarcomatoid urothelial carcinoma characterized by the presence of heterologous elements.|NCI|N|
C1512745|Invasive bladder sarcomatoid urothelial carcinoma characterized by the absence of heterologous elements.|NCI|N|
C1512746|An invasive urothelial carcinoma of the bladder with giant cells.|NCI|N|
C1512747|An invasive urothelial carcinoma of the bladder that exhibits glandular differentiation.|NCI|N|
C1512748|An invasive urothelial carcinoma of the bladder that exhibits squamous differentiation.|NCI|N|
C1512749|An invasive bladder urothelial carcinoma characterized by the presence of trophoblastic differentiation.|NCI|N|
C1512750|Invasive urothelial carcinoma that affects the renal pelvis and ureter.|NCI|N|
C1512751|Urothelial carcinoma that invades into surrounding tissue.|NCI|N|
C1512752|A microscopic finding indicating that the neoplastic cells exhibit an infiltrating growth in a tumor sample.|NCI|N|
C1512779|A tumor (abnormal growth of tissue) of the inner ear.|HPO|N|
C1512795|The chemical reactions and pathways involving inositol phosphate, 1,2,3,4,5,6-cyclohexanehexol, with one or more phosphate groups attached. [GOC:jl]|GO|N|
C1512811|Integrin Inhibition involves interference with, or restraint of, the activities of a family of noncovalent heterodimeric transmembrane glycoprotein signal transduction receptors for fibronectin, laminin, and other adhesive extracellular matrix glycoproteins, complement, and other cells. Different alpha and beta complexes vary in ligand-specificity and the intracellular domains interact with cytoskeleton.|NCI|N|
C1512860|A Sertoli-Leydig cell tumor of the ovary characterized by the presence of spindle-shaped gonadal stromal cells and Sertoli cells, some of which are atypical. Leydig cells are also present forming clusters at the periphery of the cellular aggregates. Metastases have been reported in a minority of patients.|NCI|N|
C1512935|A neoplastic process characterized by the proliferation of spindle to cuboidal myoepithelial cells within small breast ducts.|NCI|N|
C1512974|A malignant neoplasm that arises from the vagina and is characterized by the presence of an epithelial and a mesenchymal component. This category includes adenosarcoma, carcinosarcoma, and malignant mixed tumor resembling synovial sarcoma.|NCI|N|
C1512975|A very rare malignant mixed epithelial and mesenchymal neoplasm that arises from the vagina and resembles synovial sarcoma. It is characterized by a biphasic pattern and is composed of gland-like structures that are lined by epithelial cells and a cellular mesenchymal component.|NCI|N|
C1512976|A malignant neoplasm that arises from sweat glands in the vulva. Representative examples include eccrine adenocarcinoma, apocrine adenocarcinoma, and Paget disease.|NCI|N|
C1512981|Production of a new growth or growths in the mammary gland.|NCI|N|
C1512999|Specific molecular molecules or signatures that indicate that a cell will become neoplastic at a future time.|NCI|N|
C1513025|A ganglioneuroma characterized by the presence of mature ganglion cells and a mature Schwannian stroma.|NCI|N|
C1513034|A ganglioneuroma characterized by the presence of differentiating neuroblasts, maturing and mature ganglion cells.|NCI|N|
C1513041|A finding indicating that a subject has one or more measurable pathological lesions.|NCI|N|
C1513094|Formation of melanin|NCI|N|
C1513109|Membrane Fusion Activity involves merging of adjacent structures delimited by lipid bilayer membranes into a single structure.|NCI|N|
C1513112|Posttranslational modification of proteins targeted for membranes.|NCI|N|
C1513146|A gastrointestinal stromal tumor that arises from the mesentery. This is an extragastrointestinal tumor, meaning that it does not arise directly from the gastrointestinal tract.|NCI|N|
C1513158|Regulation of metabolic pathways|NCI|N|
C1513162|Metabolite Interaction involves a biophysical interaction with a biological metabolite.|NCI|N|
C1513183|A tumor arising at a location distant to the primary lesion.|NCI|N|
C1513269|A tiny cyst that is usually identified by microscopic examination in a tissue specimen.|NCI|N|
C1513276|Metastasis in the form of small clusters of malignant cells identifiable only under the microscope.|NCI|N|
C1513287|A morphological finding indicating the presence of newly formed blood vessels comprised of smooth muscle cells, pericytes and hyperplastic endothelial cells.|NCI|N|
C1513302|Mild; asymptomatic or mild symptoms; clinical or diagnostic observations only; intervention not indicated.|SNOMEDCT_US|N|
C1513308|The incorporation of minerals and electrolytes in coenzymes and gradients.|NCI|N|
C1513363|A morphologic finding indicating the presence of a cellular infiltrate with a mixed population of cells in a tissue sample.|NCI|N|
C1513364|A rare primary neoplasm of the uterine corpus characterized by the presence of endometrial stromal and smooth muscle components.|NCI|N|
C1513365|An invasive breast carcinoma characterized by the presence of a mesenchymal cellular component. The mesenchymal cellular component ranges from cartilaginous and osseous, to purely sarcomatous.|NCI|N|
C1513369|A squamous cell carcinoma that arises from the penis and is characterized by a mixture of morphologic patterns (e.g., high grade squamous cell carcinoma and verrucous carcinoma or warty-basaloid carcinoma).|NCI|N|
C1513374|Moderate; minimal, local or noninvasive intervention indicated; limiting age-appropriate instrumental activites of daily living.|SNOMEDCT_US|N|
C1513402|Any subcellular process that results in a specific change in the primary sequence of a biological macromolecule.|NCI|N|
C1513470|A teratoma that arises from the testis. It is composed exclusively of one of the following tissue types: endoderm, ectoderm, or mesoderm.|NCI|N|
C1513478|A chromosomal abnormality consisting of the absence of a copy (homolog) of chromosome 13.|NCI|N|
C1513480|A chromosomal abnormality consisting of the absence of one of the copies of chromosome 17.|NCI|N|
C1513481|A cytogenetic aneuploidy abnormality that refers to the presence of one chromosome 5 only. It is associated with the development of refractory anemia with excess blasts, refractory anemia with multilineage dysplasia, and refractory anemia with multilineage dysplasia and ringed sideroblasts.|NCI|N|
C1513482|A chromosomal abnormality consisting of the absence of one complete copy of chromosome 6 in somatic cells.|NCI|N|
C1513483|A chromosomal abnormality consisting of the absence of one of the copies of chromosome 7 in somatic cells.|NCI|N|
C1513486|The type of ubiquitin modification determines the functional consequences for the modified protein. Monoubiquitination does not serve as a proteasome targeting signal, but plays other distinct roles. Target proteins are monoubiquitinated on one or more lysine residues, which serve as a signal for intracellular sorting as well as endocytosis of cell-surface proteins. Monoubiquitination of cell-surface receptors serves as a signal to target them to lysosome, where they are degraded by lysosomal proteases. (From PMID and NCI)|NCI|N|
C1513540|An organization of mouse disorders based on the body site affected.|NCI|N|
C1513595|Gastric neuroendocrine neoplasm occurring in a mouse.|NCI|N|
C1513716|A mucinous cystic tumor of the ovary characterized by the presence of one or more well circumscribed solid nodules in the wall of the cysts (mural nodules) that protrude into the lumen. The mural nodules may be benign (sarcoma-like) or malignant. The malignant mural nodules histologically are anaplastic carcinomas, carcinosarcomas, or sarcomas. The clinical course depends on the histology of the mural nodules. The prognosis of mucinous cystic tumors with benign mural nodules is the same as the corresponding types of mucinous cystic tumors without the mural nodules. Mucinous cystic tumors with malignant mural nodules may follow a malignant clinical course.|NCI|N|
C1513718|An intrahepatic cholangiocarcinoma that produces abundant mucin.|NCI|N|
C1513719|A low grade carcinoma of the kidney characterized by the presence of tubules which are separated by mucinous stroma. Often the tubular structures have a spindle cell appearance. Patients are usually asymptomatic and occasionally they may present with hematuria or flank pain.|NCI|N|
C1513721|A primary, low grade carcinoma of the thyroid gland composed of groups of squamoid and mucous cells, surrounded by fibrous tissue. Prominent cystic structures may be present. The clinical course is usually indolent.|NCI|N|
C1513726|Focal or diffuse epithelial hyperplasia in the intestinal mucosa of the mouse.|NCI|N|
C1513734|An intraosseous ameloblastoma that arises from the jaw, usually the mandible. It grows slowly, invades locally, and recurs frequently. It presents with swelling of the jaw.|NCI|N|
C1513735|A cystic lesion that has more than one compartment.|NCI|N|
C1513751|A finding indicating the presence of more than two tumor masses in a single anatomic site or different anatomic sites.|NCI|N|
C1513761|A process that involves the non-covalent interaction of acetylcholine with one of the five muscarinic receptors. These interactions play a role in signal transduction, which influences bodily functions including salivation, lacrimation, urination, digestion and defecation.|NCI|N|
C1513782|A header term that includes the rare following variants of mycosis fungoides: folliculotropic mycosis fungoides, granulomatous slack skin disease, and pagetoid reticulosis.|NCI|N|
C1513799|A multifocal neoplastic process characterized by the proliferation of spindle to cuboidal myoepithelial cells within and/or around small breast ducts.|NCI|N|
C1513807|N-Myristoylation is the covalent attachment of myristic acid, a saturated 14-carbon fatty acid inserted in the cytoplasmic leaflet of the lipid bilayer, by an amide linkage to the amino-terminal glycine residue of a protein in order to increase the hydrophobicity of some membrane proteins or to promote membrane localization of some cytoplasmic proteins.|NCI|N|
C1513808|A change in the structure of the NRAS gene.|NCI|N|
C1513833|A mutation in the NF1 gene that either inhibits expression or results in the translation of an inactive NF1 protein.|NCI|N|
C1513834|A mutation in the NF2 gene that either inhibits expression or results in the translation of an inactive NF2 protein.|NCI|N|
C1513916|A finding of normality following an examination or investigation looking for the presence of a microorganism, disease, or condition.|NCI|N|
C1514127|A process that involves the binding of any member of the group of pituitary hormones, including growth hormone, thyroid stimulating hormone, adrenocorticotropic hormone, follicle-stimulating hormone, luteinizing hormone and prolactin, to their respective receptors. These interactions are essential for glandular development and homeostasis.|NCI|N|
C1514153|Plasminogen Activator Interaction involves temporary non-covalent binding through intermolecular physical forces of attraction with heterogeneous group of widely expressed lysosomal and secreted serine proteases having fibrin-binding activity that convert plasminogen to fibrinolytic plasmin. Inhibited by PAI-1, encoded by the PLAT Gene (Peptidase S1 Family), and cleaved by plasmin, tissue kallikrein, or factor XA to disulfide-linked A/B chains, tissue-type plasminogen activator plays a role in cell migration and tissue remodeling.|NCI|N|
C1514169|A rare, aggressive, high grade invasive ductal carcinoma, not otherwise specified. It is characterized by the presence of pleomorphic and bizarre malignant cells that constitute more than 50 percent of the malignant cellular infiltrate.|NCI|N|
C1514197|Polycythemia vera characterized by the proliferation of the erythroid, granulocytic, and megakaryocytic lineages. The peripheral blood shows excess of red blood cells, neutrophilia, and thrombocytosis. The bone marrow is hypercellular for the patient''s age.|NCI|N|
C1514199|A rare, malignant germ cell tumor arising from the ovary. It is characterized by the presence of embryoid bodies which resemble early embryos.|NCI|N|
C1514200|A rare malignant germ cell tumor that arises from the testis and is characterized by the presence of embryoid bodies.|NCI|N|
C1514211|A raised, outward growing lesion from the surface epithelium or the lumen of an organ. Representative examples include adenomatous and fibroepithelial polyps.|NCI|N|
C1514212|The condition of having additional copies of a chromosome present in a cell.|NCI|N|
C1514216|The type of ubiquitin modification determines the functional consequences for the modified protein. Polyubiquitination, which involves chains of usually four or more ubiquitins, typically seen on cytoplasmic proteins, serve as an efficient signal for recognition by the proteasome and subsequent protein degradation. (From PMID and NCI)|NCI|N|
C1514225|A neuroblastoma in which the differentiating neuroblasts constitute less than five-percent of the tumor cells.|NCI|N|
C1514226|An ovarian poorly differentiated Sertoli-Leydig cell tumor. It is characterized by the presence of a heterologous component, usually consisting of cartilage, skeletal muscle, or rhabdomyosarcoma.|NCI|N|
C1514241|A finding of abnormality following an examination or observation confirming something, such as the presence of a disease, condition, or microorganism.|NCI|N|
C1514245|Possible adverse event relationship to study product or procedure is defined when there is less clear temporal association between product or procedure administration and adverse event, and other etiologies of the event are also possible.|NCI|N|
C1514246|A malignant vascular neoplasm arising from the skin of the breast secondary to radiation treatment for breast cancer.|NCI|N|
C1514251|Post-Translational Regulation is controlled biochemical alteration of proteins involving generally reversible covalent modification or irreversible processing to regulate activity, location, or stability.|NCI|N|
C1514283|A process that involves the binding of an ion, usually Ca++, Na+ or Cl-, to a potassium channel. These interactions are involved in potassium ion transport, which establishes the electrochemical potential of the resting membrane.|NCI|N|
C1514284|Any disorder caused by an insufficient amount or availability of potassium, which generally manifests with myalgia, tetany, hypotension, polyuria, and polydipsia.|NCI|N|
C1514294|Acute lymphoblastic leukemia of early B-lineage.|NCI|N|
C1514394|Any alteration in cell state that promotes or renders a cell or cell population more vulnerable or prone to malignant conversion or transformation. (NCI)|NCI|N|
C1514418|A serous epithelial tumor that arises from the peritoneum and histologically resembles the serous borderline tumors that arise from the ovary.|NCI|N|
C1514422|A glioblastoma that arises de novo. It is more commonly seen in older patients. Mutations in IDH1 or IDH2 genes are not present.|NCI|N|
C1514428|A type of cancer that originates in the peritoneum. It is to be distinguished from metastatic cancer of the peritoneum. Peritoneal cancer can occur anywhere in the abdominal space, and affects the surface of organs contained inside the peritoneum.|HPO|N|
C1514429|A rare, serous adenocarcinoma that arises from the lining of the peritoneum. It affects females. The clinical behavior and pathologic characteristics are similar to the serous adenocarcinoma that arises from the ovary.|NCI|N|
C1514430|An urothelial carcinoma that arises from the urothelial lining of the prostatic ducts or the prostatic urethra.|NCI|N|
C1514458|Having received extensive radiation before the present time.|NCI|N|
C1514462|Cancer therapy using ionizing radiation to a limited (< 50%) portion of the body.|NCI|N|
C1514463|Prior action or administration of therapeutic agents that produced an effect that is intended to alter or stop a pathologic process.|NCI|N|
C1514464|Probable adverse event relationship to study product or procedure is defined when there is a clear-cut temporal association between product or procedure administration and adverse event, and a potential alternative etiology of the event is not apparent.|NCI|N|
C1514481|This is a condition sometimes seen in a subset of germinal centers of reactive lymph nodes where germinal centers become enlarged and infiltrated by benign mantle zone cells and some T cells.|HPO|N|
C1514492|A finding indicating the presence of a Schwann cell-rich stromal component in a neoplastic tissue specimen.|NCI|N|
C1514501|Prostaglandin Degradation consists of conjugation, transport, and/or oxidation of compounds derived primarily from arachidonic acid (cyclooxygenase pathway) (prostaglandins) having potent regulatory effects on the activity of cells involved in host defense and inflammation.|NCI|N|
C1514504|A process that involves the binding of a prostaglandin to a prostaglandin receptor. These interactions are involved in regulation of various functions including the contraction and relaxation of smooth muscle tissue, aggregation and disaggregation of platelets, and inflammation.|NCI|N|
C1514506|An invasive prostate adenocarcinoma characterized by the presence of malignant cells that exhibit neuroendocrine differentiation.|NCI|N|
C1514507|An invasive prostate carcinoma composed of prostatic basal cells.|NCI|N|
C1514511|A prostate ductal adenocarcinoma characterized by the presence of neoplastic large back-to-back glands with slit-like lumens.|NCI|N|
C1514512|A prostate ductal adenocarcinoma characterized by the presence of a papillary growth pattern.|NCI|N|
C1514513|A prostate ductal adenocarcinoma characterized by the presence of cribriform and/or papillary patterns and areas of solid nests of malignant cells.|NCI|N|
C1514517|A neoplastic lesion that arises from the prostate gland stroma. Morphologic characteristics include hypercellular stroma with scattered atypical cells, prominent overgrowth of the prostatic stroma, or changes resembling benign phyllodes tumor. The majority of cases do not have an aggressive clinical course. A minority of cases however, may progress to stromal sarcoma.|NCI|N|
C1514519|An urothelial carcinoma that arises from the urothelial lining of the prostatic ducts.|NCI|N|
C1514522|An urothelial carcinoma that arises from the urothelial lining of the prostatic urethra.|NCI|N|
C1514523|A primary or metastatic malignant neoplasm that affects the prostatic urethra.|NCI|N|
C1514525|Proteasome Binding involves temporary non-covalent interaction through intermolecular physical forces of attraction with multicatalytic macromolecular cellular structures in the cytosol and nucleus with multiple proteolytic activities involved in ATP-dependent ubiquitinated protein degradation and antigen processing.|NCI|N|
C1514526|Proteasome Inhibition involves interference with, or restraint of, the activities of macromolecular multicatalytic cellular structures in the cytosol and nucleus with multiple proteolytic activities involved in ATP-dependent ubiquitinated protein degradation and antigen processing.|NCI|N|
C1514527|Protein-Carbohydrate Interaction is a molecular interaction between protein and carbohydrate molecules.|NCI|N|
C1514556|Protein Kinase Interaction involves temporary non-covalent binding through intermolecular physical forces of attraction and spatial complementarity with members of a family of enzymes that catalyze the conversion of ATP and a protein to ADP and a phosphoprotein.|NCI|N|
C1514557|Protein Kinase Protein Phosphorylation involves covalent linkage of a phosphate group (from a donor compound such as ATP) with a serine, threonine, or tyrosine residue of a Protein Kinase acceptor, often as a mechanism of kinase activity regulation.|NCI|N|
C1514558|A process that involves the binding of a cognate ligand to a transmembrane receptor. These interactions are involved in signaling pathways that influence cellular division, cellular differentiation and morphogenesis.|NCI|N|
C1514561|Protein Phosphorylation Inhibition involves interference with, or restraint of, enzymatic activities involved in covalent transfer of a phosphate group from ATP to a protein via the action of a kinase. The major phosphoryl acceptors in proteins are serine, threonine, and tyrosine. Typically, such post-translational modifications regulate protein function.|NCI|N|
C1514563|Any subcellular or molecular event, process, or condition that produces a divergence from the usual wild-type condition in the primary sequence of a peptide or protein molecule. (NCI)|NCI|N|
C1514568|Termination of the translation process at a stop codon.|NCI|N|
C1514570|Generally irreversible, Proteolytic Processing involves removal of peptide segments from proteins, usually from the N- or C-terminus and often during polypeptide maturation, to regulate activity, location, or stability.|NCI|N|
C1514576|Proton Pump Interaction consists of temporary non-covalent binding of a molecule through intermolecular physical forces of attraction with a membrane associated enzyme, or complex, involved in ATP-dependent transmembrane transport of protons against a concentration gradient, often in exchange for other cations, resulting directly from the expenditure of energy.|NCI|N|
C1514608|A germ cell tumor that arises from the testis and is characterized by the presence of one histologic component. This category includes seminoma, teratoma, embryonal carcinoma, yolk sac tumor, and choriocarcinoma.|NCI|N|
C1514632|Quinone Metabolism consists of various biochemical reactions that convert quinones, conjugated aromatic diketones derived from benzene or multiple ring hydrocarbons, to metabolic derivatives.|NCI|N|
C1514638|Signaling pathway deregulation caused by aberrant activation of a Ras or Raf family protein.|NCI|N|
C1514641|A mutation in the RB1 gene that either inhibits expression of the RB1 protein or results in the translation of an inactive RB1 protein.|NCI|N|
C1514683|Any recombination occurring in response to DNA breakage induced by ionizing radiation, and resolved with possible exchange and frequent loss of segments of DNA by either homologous recombination or non-homologous end-joining of broken DNA strands. This process is involved in sustaining viability among cells that are irradiated, and occurs frequently at the expense of long-term genomic stability.|NCI|N|
C1514688|Damage to DNA caused by ionizing radiation. Can cause base change mutations or strand breakage.|NCI|N|
C1514762|An intercellular process that involves a cellular receptor binding to a cognate ligand and results in a specific cellular response.|NCI|N|
C1514763|Passage or transfer, as of a disease, by blood transfusion from a donor individual to a recipient. (NCI)|NCI|N|
C1514802|The reemergence of high grade B-cell lymphoma Burkitt-like lymphoma after a period of remission.|NCI|N|
C1514815|A disease that resists treatment.|NCI|N|
C1514816|High grade B-cell lymphoma Burkitt-like lymphoma resistant to treatment.|NCI|N|
C1514819|A disease or condition that extends beyond the site and spreads into adjacent tissues and regional lymph nodes.|NCI|N|
C1514825|Biochemical and cellular mechanisms involved in Regulation of Proteolysis ensure that hydrolysis of one or more peptide bonds within target proteins by proteolytic enzymes occur at the correct time and location.|NCI|N|
C1514835|A renal cell carcinoma with constitutional chromosome 3 translocations.|NCI|N|
C1514836|A renal cell carcinoma with papillary architecture comprised of clear cells. It is characterized by the inv(X)(p11;q12) resulting in fusion of the NONO (p54nrb) and TFE3 genes.|NCI|N|
C1514837|A renal cell carcinoma with papillary architecture comprised of clear cells. It is characterized by the t(X;1)(p11.2;q25) resulting in fusion of the ASPL and TFE3 genes.|NCI|N|
C1514838|A renal cell carcinoma with papillary architecture comprised of clear cells. It is characterized by the t(X;1)(p11.2;p34) resulting in fusion of the PSF and TFE3 genes.|NCI|N|
C1514839|A renal cell carcinoma with papillary architecture comprised of clear cells. It is characterized by the t(X;1)(p11.2;q21) resulting in fusion of the PRCC and TFE3 genes.|NCI|N|
C1514844|A rare benign neoplasm that arises from the renal pelvis and is characterized by the presence of a papillary growth with a central fibrovascular core. The latter is lined by normal urothelium.|NCI|N|
C1514850|A Replication Error results from the covalent addition of an incorrect nucleotide subunit, or the lack of addition of a nucleotide subunit, during polymerization of the growing newly synthesized DNA strand during replication. (NCI)|NCI|N|
C1514893|Return to the normal structure and/or function, e.g. the subsidence of a pathologic process, as the subsidence of an inflammatory lesion or new growth.|NCI|N|
C1514905|An adenoma that arises from the rete ovarii. It is composed of elongated tubules. The clinical course is benign.|NCI|N|
C1514906|An exceptionally rare cystadenofibroma that arises from the rete ovarii.|NCI|N|
C1514907|An exceptionally rare cystadenoma that arises from the rete ovarii.|NCI|N|
C1514909|A benign or malignant neoplasm that arises from the rete ovarii which is located in the ovarian hilus. It includes adenoma, cystadenoma, cystadenofibroma, and adenocarcinoma.|NCI|N|
C1514910|A benign, circumscribed, cystic or mixed cystic and solid epithelial neoplasm arising from the rete testis.|NCI|N|
C1514912|A benign or malignant neoplasm that affects the rete testis. Representative examples include adenoma and adenocarcinoma.|NCI|N|
C1514916|Retinoic Acid Binding consists of a biophysical interaction between retinoic acid (ligand) and a biological molecule, such as specific steroid receptor-like transcriptional regulator proteins containing an N-terminal modulating domain, a DNA-binding domain, and a C-terminal ligand-binding domain. The ligand-activated receptor complexes selectively bind as homodimers or heterodimers (with other steroid family receptors) to DNA response elements in target gene promoters, enhance transcriptional activity with coactivators, and mediate tissue growth and differentiation in embryogenesis, organogenesis, limb development, bone growth, and maintenance of normal epithelia.|NCI|N|
C1514920|A gastrointestinal stromal tumor that arises from the retroperitoneum. This is an extragastrointestinal tumor, meaning that it does not arise directly from the gastrointestinal tract.|NCI|N|
C1514921|A multinodular intermediate fibroblastic neoplasm arising from the retroperitoneum. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes and plasma cells.|NCI|N|
C1514943|Ribosomal Interaction involves temporary non-covalent binding between biomolecules and ribosomes.|NCI|N|
C1514944|Ribosome Assembly Interference involves inhibition or restraint of the formation of ribosomes.|NCI|N|
C1514945|Processes that involve interference with, or restraint of, the activity of ribosomes.|NCI|N|
C1514948|Stage IV NHL means disseminated (multifocal) involvement of one or more extralymphatic sites with or without associated lymph node involvement or isolated extralymphatic organ involvement with distant (nonregional) nodal involvement. (from PDQ)|NCI|N|
C1514949|Ann Arbor Classification: Stage I: Involvement of a single lymph node region (I); or localized involvement of a single extralymphatic organ or site in the absence of any lymph node involvement (IE).|NCI|N|
C1514950|Stage I NHL means involvement of a single lymph node region (I) or localized involvement of a single extralymphatic organ or site (IE). (from PDQ)|NCI|N|
C1514991|Any intracellular process that involves a chemical or mechanical stimulus and results in a cellular response that is specific to the stress.|NCI|N|
C1515001|Any change in the structure of one or more chromosomes.|NCI|N|
C1515024|An adenocarcinoma of the colon that has invaded into the submucosa.|NCI|N|
C1515033|Substrate Interaction involves temporary non-covalent binding through intermolecular physical forces of attraction and spatial complementarity between biologically-active molecules and their target molecule or between a biological molecule and an underlaying surface.|NCI|N|
C1515107|Carcinoma that is detected in one breast within two months from the diagnosis of carcinoma in the other breast.|NCI|N|
C1515128|T-cell large granular lymphocyte leukemia defined by the presence of CD3-positive, CD8-positive, and T-cell receptor alpha-beta-positive cytotoxic T-cells.|NCI|N|
C1515129|An uncommon variant of T-cell large granular lymphocyte leukemia expressing the gamma-delta T-cell receptor. Approximately 60% of these cases are CD8-positive and the remainder are CD4/CD8-negative.|NCI|N|
C1515144|Any process in which a specific pair of interactions is observed between a T cell and an antigen-presenting cell, where the interactions include those between the T cell receptor and the major histocompatibility complex and those between CD28 and B7 family members. This process is involved in anergy and specification of the immune response to a particular antigen.|NCI|N|
C1515155|Expression of a fusion protein containing the helix-loop-helix domain encoded by the human ETV6 gene and the DNA-binding and transactivation domains encoded by the human RUNX1 gene as a result of a t(12;21)(p13; q22) translocation.|NCI|N|
C1515156|Expression of a fusion protein involving the human genes ETV6 and JAK2. It results from a translocation and is associated with early B acute lymphoid leukemia, atypical chronic myelogenous leukemia and T-cell acute lymphoid leukemia.|NCI|N|
C1515157|Expression of the ETV6-PDGFRB fusion transcript resulting from the rearrangement of the PDGFRB gene.|NCI|N|
C1515171|A mutation in the TP53 gene that either inhibits the expression of or results in the translation of an inactive cellular tumor antigen p53 protein.|NCI|N|
C1515178|A mutation in the TSC1 gene that either inhibits the expression of or results in the translation of an inactive hamartin protein.|NCI|N|
C1515179|A mutation in the TSC2 gene that either inhibits the expression of or results in the translation of an inactive tuberin protein.|NCI|N|
C1515212|A spectrum of endometrial abnormalities that occur in women who use tamoxifen to treat or prevent the development of breast cancer. These abnormalities include endometrial polyps, endometrial hyperplasia, and endometrial carcinoma.|NCI|N|
C1515263|Telomere Shortening occurs every time linear eukaryotic chromosomes are replicated due to premature stoppage of the DNA polymerase complex in the highly repetitive telomere DNA region several hundred bases before the end of a chromosome.|NCI|N|
C1515281|A very rare, usually benign neoplasm that arises from the paratesticular structures. It is characterized by the presence of solid and cystic nests of neoplastic urothelial-type cells in a fibrotic stroma.|NCI|N|
C1515282|A benign neoplasm that arises from the testis and is characterized by the presence of fusiform cells and collagenization.|NCI|N|
C1515283|The presence of a gonadoblastoma of the testis.|HPO|N|
C1515284|A rare, low-grade malignant sex cord-stromal tumor that arises from the testis in adults. It is composed of granulosa cells in an often fibrothecomatous stroma. Several morphologic patterns have been identified and include insular, gyriform, trabecular, pseudosarcomatous, and solid. Gynecomastia is present in approximately a quarter of the patients. Metastases have been reported in a minority of patients.|NCI|N|
C1515285|Juvenile granulosa cell tumor of the testis of neonates and infants is an uncommon lesion frequently associated with abnormal sex chromosome and ambiguous genitalia.|HPO|N|
C1515288|A Leydig cell tumor characterized by a large size, cellular atypia, high mitotic activity, vascular invasion and necrotic changes. The prognosis is usually poor.|NCI|N|
C1515289|A malignant sex cord-gonadal stromal tumor that arises from the testis. It is characterized by cellular pleomorphism, anaplastic features, increased mitotic activity, and vascular invasion.|NCI|N|
C1515290|A choriocarcinoma that arises from the testis and is characterized by the predominance of cytotrophoblastic and intermediate trophoblastic cells. Syncytiotrophoblastic cells are absent or not prominent.|NCI|N|
C1515291|A rare testicular Sertoli cell tumor characterized by the presence of neoplastic tubules that are surrounded by a dense fibrotic stroma.|NCI|N|
C1515292|A morphologic variant of testicular seminoma characterized by the presence of seminoma cells arranged in cribriform patterns and few lymphocytes.|NCI|N|
C1515293|A morphologic variant of testicular seminoma characterized by the presence of seminoma cells arranged in pseudoglandular patterns and few lymphocytes.|NCI|N|
C1515294|A morphologic variant of testicular seminoma characterized by the presence of seminoma cells arranged in tubular patterns and few lymphocytes.|NCI|N|
C1515295|A testicular seminoma characterized by the presence of syncytiotrophoblastic giant cells.|NCI|N|
C1515296|A testicular Sertoli cell tumor in which the neoplastic cells have clear and vacuolated cytoplasm due to accumulation of intracytoplasmic lipids.|NCI|N|
C1515298|A malignant germ cell tumor that arises from the testis and is characterized by the presence of a spermatocytic tumor component that is contiguous with an undifferentiated or differentiated sarcomatous component. It usually presents as a slowly growing mass that enlarges very rapidly soon after the initial diagnosis.|NCI|N|
C1515299|A rare benign tumor that arises from the testis and is characterized by the presence of lipid-rich neoplastic spindle cells.|NCI|N|
C1515301|A tumor that arises from the testis and is composed of neoplastic trophoblastic cells. The vast majority of cases are choriocarcinomas.|NCI|N|
C1515302|A group of rare, slow-growing stromal tumors that arise from the testis. This category includes thecoma and fibroma.|NCI|N|
C1515303|A yolk sac tumor that arises from the testis and is characterized by the presence of connective tissue stalks that contain a blood vessel and are lined by cells with clear cytoplasm and prominent nucleoli.|NCI|N|
C1515304|A yolk sac tumor that arises from the testis and is characterized by the presence of immature glands.|NCI|N|
C1515305|A yolk sac tumor that arises from the testis and is characterized by the presence of gland-like spaces, irregular alveoli, and tubular structures.|NCI|N|
C1515306|A yolk sac tumor that arises from the testis and is characterized by the presence of hepatoid cells collections.|NCI|N|
C1515307|A yolk sac tumor that arises from the testis and is characterized by the presence of collections of thin-walled spaces.|NCI|N|
C1515308|A yolk sac tumor that arises from the testis and is characterized by the presence of a meshwork of small vacuolated cells resulting in a honeycomb appearance.|NCI|N|
C1515309|A yolk sac tumor that arises from the testis and is characterized by the presence of myxomatous tissue that contains collections of malignant cells with prominent nucleoli.|NCI|N|
C1515310|A yolk sac tumor that arises from the testis and is characterized by the presence of numerous papillary structures that are lined by cells with prominent nucleoli.|NCI|N|
C1515311|A yolk sac tumor that arises from the testis and is characterized by the presence of collections of vesicles that are surrounded by connective tissue.|NCI|N|
C1515312|A yolk sac tumor that arises from the testis and is characterized by the presence of aggregates of polygonal malignant cells with clear cytoplasm and prominent nucleoli.|NCI|N|
C1515560|A molecular abnormality indicating the presence of an abnormally high level of the receptor tyrosine-protein kinase erbB-2 protein.|NCI|N|
C1515562|A molecular genetic abnormality indicating the presence of multiple copies of the MYC gene.|NCI|N|
C1515567|This is an invalid term; lymphoblastic lymphomas are not chronic processes, but counterparts of acute lymphoblastic leukemias.|NCI|N|
C1515575|A chromosomal aberration where there is a loss of part of the long arm of chromosome 11, which deletes the chromosomal bands q22 and q23.|NCI|N|
C1515576|A cytogenetic abnormality that refers to the deletion of the chromosomal band 11q23.|NCI|N|
C1515588|A deletion of chromosomal material at 17p13. This chromosomal aberration includes deletion of the TP53 gene and is associated with multiple myeloma, chronic lymphocytic leukemia, acute myeloid leukemia and myelodysplastic syndrome.|NCI|N|
C1515592|A chromosomal deletion involving the p36 band of chromosome 1. This deletion is associated with 1p36 deletion syndrome.|NCI|N|
C1515642|A change in the nucleotide sequence of the MLH1 gene that either inhibits expression or results in the translation of an inactive DNA mismatch repair protein Mlh1 protein.|NCI|N|
C1515643|A change in the nucleotide sequence of the MSH2 gene that either inhibits expression or results in the translation of an inactive DNA mismatch repair protein Msh2 protein.|NCI|N|
C1515644|A change in the nucleotide sequence of the MSH6 gene that either inhibits expression or results in the translation of an inactive DNA mismatch repair protein Msh6 protein.|NCI|N|
C1515645|A mutation in the SMARCB1 gene that either inhibits expression of the SMARCB1 protein or results in the translation of an inactive SMARCB1 protein.|NCI|N|
C1515648|A cytogenetic abnormality involving chromosome 17 that results from loss of the short arm and duplication of the long arm. This aberration is associated with a variety of neoplastic diseases, and is indicative of a poor prognosis for individuals with hematologic malignancies.|NCI|N|
C1515664|A cytogenetic abnormality that involves an inversion at 22q12.|NCI|N|
C1515666|A cytogenetic abnormality that refers to a paracentric inversion involving breakpoints on the long (q23.1 and q26.2) of chromosome 3. It is associated with acute myeloid leukemia.|NCI|N|
C1515674|Expression of a fusion protein with an apparent molecular weight of 190 kilodaltons that results from a fusion of the human genes BCR and ABL1.|NCI|N|
C1515675|Expression of a fusion protein with an apparent molecular weight of 210 kilodaltons that results from a fusion of the human genes BCR and ABL1.|NCI|N|
C1515676|Expression of a fusion protein with an apparent molecular weight of 230 kilodaltons that results from a fusion of the human genes BCR and ABL1.|NCI|N|
C1515701|A cytogenetic abnormality that refers to the translocation of the short arm (p11) of chromosome 10 and the long arm (q23) of chromosome 11. It is associated with the development of acute myeloid leukemia with variant MLL translocations.|NCI|N|
C1515702|A chromosomal abnormality consisting of the translocation of 10q24 with 14q11, leading to inappropriate and abundant expression of HOX11 protein in T cells bearing the translocation.|NCI|N|
C1515705|A cytogenetic abnormality that refers to the translocation of the long arm (q13) of chromosome 11 and the long arm (q32) of chromosome 14. It results in up-regulation of cyclin D1 and is the most common translocation detected in multiple myeloma.|NCI|N|
C1515710|A cytogenetic abnormality that refers to the translocation of the long arm (q23) of chromosome 11 and the short arm (p13.1) of chromosome 19. It is associated with the development of acute myeloid leukemia with variant MLL translocations and topoisomerase II inhibitor-related acute myeloid leukemia.|NCI|N|
C1515711|A cytogenetic abnormality that refers to the translocation of the long arm (q23.3) of chromosome 11 and the short arm (p13.3) of chromosome 19. It is associated with KMT2A (MLL)/MLLT1 (ENL) fusions and acute myeloid leukemia.|NCI|N|
C1515712|A chromosomal translocation involving the WT1 gene on chromosome 11p31 and the EWSR1 gene on chromosome 22q12.|NCI|N|
C1515713|A chromosomal translocation involving the FLI1 gene on chromosome 11q24 and the EWSR1 gene on chromosome 22q12.|NCI|N|
C1515714|A chromosomal abnormality consisting of the translocation of genetic material from any one of several chromosomes to the 11q23.3 region, resulting in an MLL gene rearrangement.|NCI|N|
C1515716|A chromosomal translocation that involves chromosome 12 and chromosome 16. It is often associated with the development of angiomatoid fibrous histiocytoma or myxoid liposarcoma.|NCI|N|
C1515717|A translocation between chromosomes 12 and 21 involved in TEL-AML1 oncogene formation. The translocation produces a chimeric gene encoding a protein consisting of the N-terminal HLH domain of the TEL ETS-like transcription factor fused with a nearly complete AML1 protein. t(12;21) is the most frequent translocation causing ALL, accounting for 20% of ALL cases.|NCI|N|
C1515719|A cytogenetic abnormality that refers to the a translocation involving the long arm (q13) of chromosome 12 and the long arm (q12) of chromosome 22.|NCI|N|
C1515724|A chromosomal translocation associated with creation of a fusion between the PML and RARA genes. It is seen in variants of acute promyelocytic leukemia.|NCI|N|
C1515727|A chromosomal translocation involving the FUS gene on chromosome 16p11 and the ERG gene on chromosome 21q22.|NCI|N|
C1515731|A chromosomal translocation involving the ETV4 gene on chromosome 17q21 and the EWSR1 gene on chromosome 22q12.|NCI|N|
C1515739|A chromosomal abnormality consisting of the translocation of 19p13.3 with 1q23, resulting in the fusion of the TCF3 (E2A) gene with the PBX1 gene.|NCI|N|
C1515741|A cytogenetic abnormality that refers to the translocation of the short arm (p13.3) of chromosome 1 and the long arm (q13.1) of chromosome 22. It is associated with RBM15/MRTFA (MKL1) fusions and acute megakaryocytic leukemia.|NCI|N|
C1515749|A chromosomal translocation associated with Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor and Olfactory Neuroblastoma.|NCI|N|
C1515752|A chromosomal translocation involving the PAX3 gene on chromosome 2q35 and the FOXO1 gene on chromosome 13q14.|NCI|N|
C1515755|A chromosomal translocation involving the CREB1 gene on chromosome 2q33 and the EWSR1 gene on chromosome 22q12.|NCI|N|
C1515763|A cytogenetic abnormality that refers to the translocation of the long arm (q26) of chromosome 3 and the long arm (q22) of chromosome 21. It is associated with RUNX1/MECOM fusions, chronic myelogenous leukemia in blast crisis (BC-CML), myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML).|NCI|N|
C1515764|A cytogenetic abnormality that refers to the translocation where both breakpoints are on the long arm (q23.1 and q26.2) of chromosome 3. It is associated with acute myeloid leukemia.|NCI|N|
C1515766|A cytogenetic abnormality that refers to the translocation of the long arm (q25) of chromosome 3 and the long arm (q34) of chromosome 5. It is associated with the development of acute myeloid leukemia arising from myelodysplastic syndrome, acute myeloid leukemia with multilineage dysplasia, and acute myeloid leukemia with myelodysplasia-related changes.|NCI|N|
C1515769|A chromosomal abnormality consisting of the translocation of 4q21 with 11q23.|NCI|N|
C1515778|A cytogenetic abnormality that refers to the translocation of the short arm (p21) of chromosome 6 and the long arm (q12) of chromosome 11. It results in the fusion of the MALAT1 gene with the TFEB transcription factor gene.|NCI|N|
C1515779|A cytogenetic abnormality that refers to the translocation of the long arm (q27) of chromosome 6 and the long arm (q23) of chromosome 11. It is associated with the development of de novo acute myeloid leukemia.|NCI|N|
C1515781|A cytogenetic abnormality that refers to the translocation of the short arm (p23) of chromosome 6 and the long arm (q34.1) of chromosome 9. It is associated with DEK/NUP214 fusions, acute myeloid leukemia and myelodysplastic syndromes.|NCI|N|
C1515787|A cytogenetic abnormality that refers to the translocation of the short arm (p22) of chromosome 7 and the long arm (q12) of chromosome 22.|NCI|N|
C1515791|A chromosomal abnormality consisting of the translocation of 8q24 with 14q11, which juxtaposes the c-MYC gene with the gene for the T cell receptor alpha chain resulting in overexpression of c-MYC in T cells bearing the translocation.|NCI|N|
C1515792|A chromosomal translocation that fuses 8q24 with 14q32. This juxtaposes the MYC gene with the promoter regions of the immunoglobulin heavy chain gene locus, which results in overexpression of Myc proto-oncogene protein in B-cells bearing the translocation.|NCI|N|
C1515794|A cytogenetic abnormality that involves a translocation between 8q22 and 21q22. It is associated with the development of acute myeloid leukemia with RUNX1-RUNX1T1 fusion protein expression.|NCI|N|
C1515800|A cytogenetic abnormality that refers to the translocation of the short arm (p21.3) of chromosome 9 and the long arm (q23.3) of chromosome 11. It is associated with the development of acute myeloid leukemia with the MLLT3-MLL fusion gene transcript.|NCI|N|
C1515806|A chromosomal translocation involving the NR4A3 gene on chromosome 9q31 and the TAF15 gene on chromosome 17q12.|NCI|N|
C1515809|A translocation between chromosomes 9 and 22 that is associated with the Philadelphia chromosome.|NCI|N|
C1515813|A chromosomal translocation involving the TFE3 gene on chromosome Xp11.2 and the ASPSCR1 gene on chromosome 17q25.|NCI|N|
C1515814|A chromosomal translocation that involves the X chromosome and chromosome 18. It is often associated with the development of synovial sarcoma.|NCI|N|
C1515843|A molecular genetic abnormality indicating the presence of multiple copies of the AKT2 gene.|NCI|N|
C1515845|A molecular abnormality indicating that the tyrosine kinase activity of the ALK tyrosine kinase receptor protein is expressed at abnormally high levels.|NCI|N|
C1515851|Expression of a fusion protein that results from a t(8;21)(q22;q22) translocation, which involves the human genes RUNX1 and RUNX1T1 and is associated with acute myeloid leukemia.|NCI|N|
C1515852|A change in the nucleotide sequence of the RUNX1 gene.|NCI|N|
C1515857|A change in the nucleotide sequence of the APC gene that either inhibits expression or results in the translation of an inactive adenomatosis polyposis coli protein.|NCI|N|
C1515868|A breast adenocarcinoma characterized by the presence of serous (acinic cell) differentiation.|NCI|N|
C1515893|A morphologic variant of embryonal rhabdomyosarcoma arising from the vagina. It is characterized by the formation of a cambium layer in the affected tissue and polypoid nodules with an abundant myxoid stroma. It occurs in female adults.|NCI|N|
C1515988|Oral leukoplakia associated with advanced dysplasia in which genetic studies show aneuploidy. The vast majority of patients develop aggressive invasive squamous cell carcinomas. Complete resection of the lesion does not reduce the risk of developing invasive squamous cell carcinoma.|NCI|N|
C1516010|A process that involves the non-covalent binding of vasopressin to one of three arginine vasopressin receptor proteins. These interactions play a role in signaling pathways that modulate the maintenance of blood osmolality.|NCI|N|
C1516013|Antigen Presentation Interaction involves specific non-covalent interaction (binding) through intermolecular physical forces of attraction and spatial complementarity of T-Cell Antigen Receptors with proteolytically processed fragments of antigenic foreign proteins displayed in association with self MHC antigens on the surface of antigen presenting macrophages.|NCI|N|
C1516015|Antigen Targeting involves specific and high affinity non-covalent interaction (binding) of an antibody reagent through intermolecular physical forces of attraction and spatial complementarity with a soluble or particulate substance (antigen) that induces an immune response. Using the keen specificity of antigen recognition by antibodies, targeting selectively localizes antibody-associated reagents to antigen sites for therapeutic or diagnostic effect.|NCI|N|
C1516056|Stage I includes: (T1, N0, M0) and (T2, N0, M0). T1: Tumor invades submucosa. T2: Tumor invades muscularis propria. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th ed.)|NCI|N|
C1516058|Stage I includes: (T1, N0, M0) and (T2, N0, M0). T1: Tumor invades submucosa. T2: Tumor invades muscularis propria. (AJCC 6th ed.)|NCI|N|
C1516061|Stage I includes: (T1, N0, M0) and (T2, N0, M0). T1: Tumor invades submucosa. T2: Tumor invades muscularis propria. (AJCC 6th ed.)|NCI|N|
C1516065|Stage III includes: IIIA (T1-T2, N1, M0); IIIB (T3-T4, N1, M0); IIIC (Any T, N2, M0). N1: Metastasis in 1 to 3 regional lymph nodes. N2: Metastasis in 4 or more regional lymph nodes. M0: No distant metastasis. (AJCC 6th ed.)|NCI|N|
C1516067|Stage III includes: IIIA (T1-T2, N0, M0); IIIB (T3-T4, N1, M0); IIIC (Any T, N2, M0). N1: Metastasis in 1 to 3 regional lymph nodes. N2: Metastasis in 4 or more regional lymph nodes. (AJCC 6th ed.)|NCI|N|
C1516068|Stage III includes: IIIA (T1-T2, N1, M0); IIIB (T3-T4, N1, M0); IIIC (Any T, N2, M0). N1: Metastasis in 1 to 3 regional lymph nodes. N2: Metastasis in 4 or more regional lymph nodes. M0: No distant metastasis. (AJCC 6th ed.)|NCI|N|
C1516070|Stage III includes: IIIA (T1-T2, N0, M0); IIIB (T3-T4, N1, M0); IIIC (Any T, N2, M0). N1: Metastasis in 1 to 3 regional lymph nodes. N2: Metastasis in 4 or more regional lymph nodes. (AJCC 6th ed.)|NCI|N|
C1516071|Stage III includes: IIIA (T1-T2, N1, M0); IIIB (T3-T4, N1, M0); IIIC (Any T, N2, M0). N1: Metastasis in 1 to 3 regional lymph nodes. N2: Metastasis in 4 or more regional lymph nodes. M0: No distant metastasis. (AJCC 6th ed.)|NCI|N|
C1516073|Stage III includes: IIIA (T1-T2, N0, M0); IIIB (T3-T4, N1, M0); IIIC (Any T, N2, M0). N1: Metastasis in 1 to 3 regional lymph nodes. N2: Metastasis in 4 or more regional lymph nodes. (AJCC 6th ed.)|NCI|N|
C1516098|Malignant transformation and proliferation of B lymphocytes.|NCI|N|
C1516130|A cytogenetic abnormality that refers to any translocation involving the BCL2 gene.|NCI|N|
C1516132|Bcr/abl is the gene rearrangement that is associated primarily with the disease chronic myelogenous leukemia and less frequently with acute lymphoblastic leukemia. This rearrangement results in the formation of the BCR-ABL1 fusion protein.|NCI|N|
C1516134|Expression of a fusion protein involving the human genes BCR and JAK2. It results from a translocation and is associated with atypical chronic myeloid leukemia, myleoproliferative neoplasms, acute myeloid leukemia, B lymphoblastic leukemia/lymphoma and Burkitt lymphoma.|NCI|N|
C1516144|Calcium Binding consists of a biophysical interaction between one or more calcium ion(s) and a biological molecule, such as a protein. Calcium binding with proteins often involves interaction of the ion(s) with a specific region, domain, or motif (e.g., EF-Hand) that supports protein structure or induces an alteration of protein activity in enzymatic or cell signaling cascades.|NCI|N|
C1516146|A process that involves the binding of a cognate ligand to a member of the calcium channel receptor family. These interactions are involved in the release of calcium from intracellular stores.|NCI|N|
C1516170|The unregulated growth of cancer cells insofar as growth control and contact inhibition.|NCI|N|
C1516171|Control of the rate or manner of occurrence of the complex series of phenomena occurring after division and before death of cancer cells. (NCI)|NCI|N|
C1516197|Any gene mutation that promotes neoplastic cellular transformation. Cancer gene mutations include both activation of oncogenes and inactivation of tumor suppressor genes.|NCI|N|
C1516248|An elaboration of a sequence of biological or biochemical events that play a role in the metabolism of carbohydrates.|NCI|N|
C1516272|The sum of the chemical and physical changes occurring in tissue and resulting in biodegradation of any cancer-producing substance or organism.|NCI|N|
C1516273|The natural or acquired ability of an organism to maintain its immunity to or to resist the effects of a cancer causing agent.|NCI|N|
C1516284|An adenocarcinoma that arises from the Cowper glands.|NCI|N|
C1516285|An adenocarcinoma that arises from the Littre glands.|NCI|N|
C1516341|Any type of stress response signaling that results in modification to the process of cell death.|NCI|N|
C1516359|Any subcellular process that is initated by a chemical or mechanical stimulus and results in a specific cellular response.|NCI|N|
C1516360|Cellular or subcellular processes involved in disturbance or restoration of a homeostatic condition. (NCI)|NCI|N|
C1516371|A neurofibroma characterized by the presence of areas with increased cellularity.|NCI|N|
C1516373|Cellular or subcellular processes involved with significant disturbance from a homeostatic condition. (NCI)|NCI|N|
C1516402|A rare, benign, polypoid neoplasm that arises from the cervix. It is characterized by the presence of epithelial and mesenchymal elements.|NCI|N|
C1516403|A rare low grade carcinoma that arises from the cervix. It is characterized by the presence of nests of basaloid cells with focal glandular formations.|NCI|N|
C1516404|A rare, benign, usually polypoid neoplasm that arises from the cervix. It is characterized by the presence of a glandular component and a smooth muscle cell component. Variants include the endocervical-type, mesonephric-type, and atypical polypoid adenomyoma.|NCI|N|
C1516405|An adenomyoma that arises from the cervix and is characterized by the presence of endocervical mucinous glands and a smooth muscle cell component. There is no atypia or significant mitotic activity present.|NCI|N|
C1516407|Glassy cell carcinoma of the cervix uteri is a rare cancer of the uterine cervix, composed of nests of large neoplastic cells with 'ground glass' cytoplasm, surrounded by a stroma with prominent eosinophilic infiltrates. It is a poorly differentiated, aggressive variant of adenosquamous carcinoma that usually affects young women and presents with dysfunctional vaginal bleeding and lower abdominal pain. Distant metastases to the lungs, liver spleen or bones are often present at the time of diagnosis. It is often associated with high-risk HPV-infection (types 18, 16 and 32).|ORDO|N|
C1516408|An alveolar soft part sarcoma arising from the cervix.|NCI|N|
C1516409|An adenomyoma that arises from the cervix and is characterized by the presence of a glandular component exhibiting architectural complexity.|NCI|N|
C1516410|A nevus that arises from the cervix. It is characterized by the presence of benign, heavily pigmented dendritic melanocytes.|NCI|N|
C1516413|A usually solitary polypoid lesion that arises from the cervix. It usually affects women in their reproductive years. It is characterized by the presence of a connective tissue core and overlying epithelium.|NCI|N|
C1516416|A benign, malignant, or precancerous neoplasm that arises from the glandular epithelium of the cervix. Representative examples include endocervical polyp, cervical adenocarcinoma, and cervical glandular intraepithelial neoplasia.|NCI|N|
C1516417|A rare, aggressive neuroendocrine carcinoma that arises from the cervix and is characterized by the presence of malignant cells with abundant cytoplasm, large nuclei, and prominent nucleoli.|NCI|N|
C1516418|A variant of cervical squamous cell carcinoma characterized by the presence of islands of cells with uniform, vesicular nuclei and prominent nucleoli and a dense lymphocytic infiltrate.|NCI|N|
C1516419|Cervical adenocarcinoma that derives from Wolffian duct remnants and shows mesonephric differentiation. It is not associated with human papillomavirus infection.|NCI|N|
C1516420|A benign or malignant neoplasm that arises from the cervix and is characterized by the presence of epithelial and mesenchymal elements. This category includes adenofibroma, adenomyoma, adenosarcoma, and carcinosarcoma.|NCI|N|
C1516422|A cervical mucinous adenocarcinoma that resembles the large intestinal adenocarcinoma.|NCI|N|
C1516423|Cervical adenocarcinoma characterized by the presence of gastric differentiation. It is not associated with human papillomavirus infection.|NCI|N|
C1516424|A rare cervical mucinous adenocarcinoma characterized by the presence of signet ring cells.|NCI|N|
C1516426|A rare subtype of malignant mixed epithelial and mesenchymal tumor composed of benign or mildly atypical glandular elements and a surrounding low-grade malignant stroma, often containing heterologous elements, such as areas of sex-cord-like or smooth muscle differentiation. It usually presents with vaginal bleeding or discharge, lower abdominal pain and/or a cervical mass or polyp. The tumor may arise from pre-existing endometriosis and patients may have a history of recurrent cervical polyps.|ORDO|N|
C1516427|A rare, benign, papillary neoplasm that arises from the cervix. It is characterized by the presence of a fibrovascular core covered by mucinous epithelial cells.|NCI|N|
C1516429|A human papillomavirus-related cervical squamous cell carcinoma characterized by the presence of papillary structures covered with epithelial cells which show features of cervical intraepithelial neoplasia. The malignant cellular component below the papillary structures is a squamous cell carcinoma.|NCI|N|
C1516430|A rare benign skeletal muscle neoplasm arising from the cervix. It is characterized by the presence of small nucleated rhabdomyoblasts within a fibrous and myxoid stroma.|NCI|N|
C1516431|A rare adenocarcinoma that arises from the cervix. It is characterized by the presence of papillary patterns and cellular budding. Psammoma bodies are often seen.|NCI|N|
C1516432|A benign or malignant mesenchymal neoplasm of the cervix. Representative examples include rhabdomyoma, alveolar soft part sarcoma, and AIDS-related Kaposi sarcoma.|NCI|N|
C1516433|A human papillomavirus-related cervical squamous cell carcinoma characterized by the presence of papillary structures with fibrovascular cores. It is covered with multiple layers of atypical cells that resemble cervical intraepithelial neoplasia 3.|NCI|N|
C1516434|A benign, precancerous, or malignant neoplasm that arises from the squamous epithelium of the cervix. Representative examples include condyloma acuminatum, cervical intraepithelial neoplasia, and squamous cell carcinoma.|NCI|N|
C1516435|A highly differentiated variant of cervical squamous cell carcinoma characterized by the presence of a warty surface and stromal invasion with pushing borders. The malignant cells have abundant cytoplasm and minimal nuclear atypia. Koilocytosis is not present.|NCI|N|
C1516436|A human papillomavirus-related cervical squamous cell carcinoma characterized by the presence of a warty surface and koilocytotic atypia.|NCI|N|
C1516437|An embryonal neoplasm arising from the cervix with morphologic features resembling Wilms tumor of the kidney.|NCI|N|
C1516441|Chaperone Protein Inhibition involves interference with, or restraint of, the activities of diverse cellular proteins that noncovalently bind to nascent or unfolded polypeptides and mediate assembly/disassembly, stability, and transmembrane translocation of other polypeptides or complexes, but which are not components of those structures.|NCI|N|
C1516442|Chaperone Protein Interaction involves temporary non-covalent binding through intermolecular physical forces of attraction by cellular proteins that mediate assembly/disassembly, stabilization, and transmembrane translocation of other polypeptides or complexes, but which are not components of those final structures.|NCI|N|
C1516471|Cases of harm to a child caused by parents or other caregivers, defined by the Federal government as: any recent act or failure to act on the part of a parent or caretaker which results in death, serious physical or emotional harm, sexual abuse or exploitation; or an act or failure to act which presents an imminent risk of serious harm.|NCI|N|
C1516475|A congenital mesoblastic nephroma characterized by the presence of interlacing fascicles of fibroblastic cells, low mitotic activity, and collagen formation.|NCI|N|
C1516484|A process that involves the binding of calcium or an extracellular ligand to a calcium channel. These interactions are involved in restoring the electrochemical potential of the resting membrane.|NCI|N|
C1516490|An intrahepatic cholangiocarcinoma that arises from the canals of Hering.|NCI|N|
C1516516|An irregularity in the number of chromosomes, usually in the form of a gain of genetic material. (NCI)|NCI|N|
C1516517|A cytogenic abnormality that refers to gain of an entire chromosome, a chromosome arm or a chromosomal band.|NCI|N|
C1516518|A chromosomal rearrangement in which a segment a segment of DNA is added internally to a chromosome.|NCI|N|
C1516519|Loss of an entire chromosome or chromosome arm.|NCI|N|
C1516552|Primary myelofibrosis characterized by reticulin or collagen fibrosis in the bone marrow. The bone marrow is usually normocellular or hypocellular. Myeloblasts account for less than 10% of the bone marrow cells. Atypical megakaryocytes are present.|NCI|N|
C1516553|Primary myelofibrosis characterized by bone marrow hypercellularity and the presence of atypical megakaryocytes. There is no increase in the percentage of myeloblasts and no significant increase in reticulin or collagen fibrosis in the bone marrow.|NCI|N|
C1516599|A morphologic variant of basal cell carcinoma characterized by the presence of clear cells.|NCI|N|
C1516669|The process by which a normal cell accumulates genetic changes that allow it to become a tumor-causing cell and furthers its development to more malignant states.|NCI|N|
C1516670|Multiplication or reproduction by cell division of a population of identical cells descended from a single progenitor. In immunology, may refer to the clonal proliferation of cells responsive to a specific antigen as part of an immune response. (NCI)|NCI|N|
C1516672|A DNA sequence rearrangement that results in the creation of a novel immunoglobulin. This process occurs during the differentiation of B-lymphocytes, such that individual B-cell progenitors, and their descendents, express an identical antibody molecule.|NCI|N|
C1516673|A molecular abnormality indicating rearrangement of the IGH gene in clonal populations of either lymphocytes or lymphocyte lineage neoplastic cells.|NCI|N|
C1516680|Rearrangements involving DNA recombinase and T-cell receptor family genes that result in the expression of antigen-specific T-cell receptor proteins. This process occurs during the differentiation of T-lymphocytes, such that individual T-cell progenitors, and their descendents, express identical forms of the T-cell receptor complex.|NCI|N|
C1516686|During HIV infection, the virus may evolve and become able to use alternative cell surface factors as receptors for cell attachment and entry. This can increase the tissue range of infection or allow the virus to overcome drugs which block virus entry.|NCI|N|
C1516693|A morphologic finding indicating the presence of dense stromal fibrosis in a tissue sample.|NCI|N|
C1516760|A neuroblastic tumor characterized by the presence of a ganglioneuroblastoma component and the formation of Schwannian stroma which constitutes more than fifty-percent of the tumor volume.|NCI|N|
C1516761|A neuroblastic tumor characterized by the presence of a ganglioneuroblastoma component and the formation of Schwannian stroma which is the predominant component of the tumor volume.|NCI|N|
C1516823|Any mutation that results in the embryonic death of the organism carrying the mutation.|NCI|N|
C1516855|Simple or complex endometrial hyperplasia characterized by the absence of epithelial atypia.|NCI|N|
C1516857|A precursor of endometrial serous adenocarcinoma characterized by the replacement of the normal endometrial cells by malignant glandular cells that resemble the malignant cells of invasive serous adenocarcinoma. The endometrial neoplastic process is non-invasive. It may coexist with invasive endometrial adenocarcinoma or can be associated with metastases outside the uterus, in the absence of invasive endometrial carcinoma.|NCI|N|
C1516858|An aggressive, high-grade, and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the endometrium. It is characterized by the presence of small malignant cells, necrotic changes, and an increased mitotic rate.|NCI|N|
C1516864|A rare primary carcinoma of the endometrium characterized by the presence of malignant epithelial cells resembling urothelial transitional cells. The malignant transitional cells constitute at least 90% of the tumor cells.|NCI|N|
C1516865|A primary carcinoma of the endometrium characterized by the presence of malignant cells that lack evidence of differentiation.|NCI|N|
C1516882|Any process by which signals are passed between two distinct cell types over a distance, typically through the circulatory system. This process is employed in most hormone-receptor communication, and is involved in metabolism, immune response, sexual development, behavior, nervous system function, regulation of mood and circadian rhythms, as well as other processes.|NCI|N|
C1516897|Through physical or functional dissociation, Enzyme Uncoupling involves alteration (typically disruption) of activity of a physically or functionally coordinated biological complex that possesses catalytic activity.|NCI|N|
C1516998|Environmental factors considered as variables in disease incident, transmission, and control.|NCI|N|
C1517002|Any adverse event associated with a medical product or procedure, whose nature and severity have been previously observed, identified in nature, severity, or frequency, and documented in the investigator brochure, investigational plan, protocol, current consent form, scientific publication, or in other relevant and reliable document. The old term Side Effect is retired and should not be used.|NCI|N|
C1517009|A condition or observation that is relevant to disease states, models of disease or characterization of those conditions in a non-human organism; this includes conditions or observations in organisms used in research settings.|NCI|N|
C1517054|A finding indicating the presence of disease beyond the skin.|NCI|N|
C1517068|A clinical finding that refers to the spread or absence of lymphoid cancer in anatomic sites or systems other than the original lymph node site of growth.|NCI|N|
C1517090|A molecular genetic abnormality indicating the presence of multiple copies of the FGFR1 gene.|NCI|N|
C1517091|A change in the nucleotide sequence of the FGFR3 gene.|NCI|N|
C1517092|A molecular genetic abnormality indicating the presence of multiple copies of the FGFR2 gene.|NCI|N|
C1517097|Expression of a fusion protein involving the human genes FIP1L1 and PDGFRA. It results from an inversion or translocation and is associated with hypereosinophilic syndrome (HES)/chronic eosinophilic leukemia (CEL) and systemic mast cell disease.|NCI|N|
C1517109|A rare, benign, asymptomatic neoplasm that arises from the fallopian tube. The majority of cases are incidental findings during operation for an unrelated gynecologic disorder. The tumors are round and solitary and contain connective tissue and papillary or tubular structures lined by serous-type epithelium.|NCI|N|
C1517110|A benign neoplasm that arises from the fallopian tube and originates from mesothelial cells. It is characterized by the presence of gland-like structures that are lined by flat or cuboidal cells. It is usually discovered as an incidental finding.|NCI|N|
C1517111|A rare, benign, asymptomatic neoplasm that arises from the fallopian tube. The tumors are round and solitary and contain connective tissue and cystic structures lined by serous-type epithelium. The majority of cases are incidental findings during operation for an unrelated gynecologic disorder.|NCI|N|
C1517112|An adenomatous polyp that arises from the interstitial portion of the fallopian tube and is characterized by the presence of endometrial epithelium. It may obstruct the lumen of the fallopian tube and result in infertility or tubal pregnancy.|NCI|N|
C1517113|A benign, borderline, or malignant epithelial tumor of the fallopian tube that is characterized by the presence of glands and/or cysts lined by neoplastic cells that resemble endometrial cells.|NCI|N|
C1517114|A rare germ cell tumor that affects the fallopian tube. The vast majority of cases are teratomas.|NCI|N|
C1517115|A benign smooth muscle neoplasm arising from the fallopian tube. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.|NCI|N|
C1517116|An aggressive malignant smooth muscle neoplasm, arising from the fallopian tube. It is characterized by a proliferation of neoplastic spindle cells.|NCI|N|
C1517117|A carcinosarcoma that arises from the fallopian tube. It usually affects postmenopausal women and presents with abdominal pain, abdominal distension or genital bleeding. The prognosis is usually poor.|NCI|N|
C1517118|A rare metaplastic lesion that arises from the fallopian tube. It is characterized by the presence of an intraluminal papillary proliferation composed of atypical epithelial cells with abundant eosinophilic cytoplasm. In the vast majority of cases, it is an incidental finding during microscopic examination of a fallopian tube in the postpartum period.|NCI|N|
C1517119|An extremely rare adenocarcinoma that arises from the fallopian tube. It is characterized by the presence of neoplastic epithelial cells that contain intracytoplasmic mucin. The cases that have been reported are predominantly in situ mucinous adenocarcinomas.|NCI|N|
C1517120|A rare borderline or malignant epithelial tumor of the fallopian tube characterized by the presence of neoplastic epithelial cells that contain intracytoplasmic mucin and may resemble the epithelial cells of the endocervix or gastrointestinal tract.|NCI|N|
C1517121|An extremely rare malignant neoplasm that arises from the fallopian tube and is characterized by the presence of a benign epithelial component and a sarcomatous component.|NCI|N|
C1517123|A benign epithelial neoplasm that arises from the fallopian tube. It is characterized by the presence of fibrovascular stalks lined by serous epithelial cells.|NCI|N|
C1517124|A serous adenocarcinoma that arises from the fallopian tube. It is usually a high grade invasive adenocarcinoma.|NCI|N|
C1517125|A benign, borderline, or malignant epithelial tumor of the fallopian tube characterized by the presence of neoplastic serous epithelial cells.|NCI|N|
C1517126|A benign or malignant mesenchymal neoplasm of the fallopian tube. Representative examples include leiomyoma and leiomyosarcoma.|NCI|N|
C1517127|A teratoma that arises from the fallopian tube. It is a rare tumor, often found incidentally.|NCI|N|
C1517128|A rare transitional cell carcinoma that arises from the fallopian tube.|NCI|N|
C1517133|Farnesylation Inhibition involves interference with, or restraint of, enzymatic activities involved in covalent addition of farnesyl group(s) (three isoprene units) to polypeptide chains that contain the C terminal motif CAAX after assembly from messenger RNA at the ribosome.|NCI|N|
C1517154|A primary or metastatic malignant neoplasm that affects the female urethra.|NCI|N|
C1517296|Formation of Apurinic Site involves the creation of an apurinic site as a result of the loss of a purine residue from DNA. Purine residues are especially vulnerable to cleavage of the N-glycosylic bond between the purine residue and sugar moiety of the nucleotide, leaving in DNA a nucleotide position with no base attached.|NCI|N|
C1517297|Formation of Apyrimidine Site involves the creation of an apyrimidinic site as a result of the loss of a pyrimidine residue from DNA.|NCI|N|
C1517298|Formation of Bistrand Abasic Site involves the creation of an apurinic or apyrimidinic site on one strand with a loss of the opposing purine or pyrimidine residue on the other DNA strand.|NCI|N|
C1517311|Any subcellular metabolic process in which at least one of the participants has one or more electrons that singly occupy an electron orbital. Free radical processes may promote or prevent damage to tissues in which they arise.|NCI|N|
C1517312|Free Radical Formation involves production in normal or pathological processes of chemically unstable, short half-life and highly reactive molecules carrying at least one unpaired or ''free'' electron in the outermost electron shell. Appropriating electron(s) from a nearby molecule and damaging that molecule by altering the electron number in its outermost electron shell, Free Radicals produce tissue damage.|NCI|N|
C1517314|Free Radical Binding involves temporary interaction with chemically unstable and highly reactive molecules (free radicals) having an unsatisfied electron valence pair. Agents of tissue damage through exposure to radiation, environment chemicals, and aging, reactive free radicals stabilize themselves by appropriating an electron from a nearby molecule and damaging that molecule by altering the electron number in its outermost electron shell.|NCI|N|
C1517316|Free Radical Suppression involves interference with, or restraint of, production in normal or pathological processes of chemically unstable, short half-life and highly reactive molecules carrying at least one unpaired or ''free'' electron in the outermost electron shell. Appropriating electron(s) from a nearby molecule and damaging that molecule by altering the electron number in its outermost electron shell, Free Radicals produce tissue damage.|NCI|N|
C1517339|G1-S Arrest consists of cellular biochemical mechanisms, responsive to diverse governing conditions (DNA damage, contact inhibition, growth factors, etc.), that control cellular commitment at the G1 restriction point to DNA replication and the proliferative cycle. G1 to S is controlled by de/phosphorylated cyclin/CDK complexes. During G1, cycD/CDK phosphorylation of Rb/HDAC repressor permits E2F/DP1 transcription of genes that promote the G1/S switch and DNA replication. p53 induces p21 inhibition of cycD/CDK; Mdm2 inhibits p53/p21. TGF-b induces p15 inhibition of cycD/CDK. cAMP induces p27 inhibition of cycD/CDK. GSK3b induction of cycD degradation, and INK4, Kip, and Cdc25A regulate cycD/CDK activity.|NCI|N|
C1517341|Processes that mark, promote, and sustain the commencement of, and commitment to continue, cellular processes involved in the S phase of the cell cycle, such as replication.|NCI|N|
C1517342|G1 Arrest consists of cellular biochemical mechanisms, responsive to diverse governing conditions (DNA damage, contact inhibition, growth factors, etc.), that control cellular progress through the G1 phase of the cell cycle. G1 progress is controlled by de/phosphorylated cyclin/CDK complexes. During G1, cycD/CDK phosphorylation of Rb/HDAC repressor permits E2F/DP1 transcription of genes that promote the G1/S switch and DNA replication. p53 induces p21 inhibition of cycD/CDK; Mdm2 inhibits p53/p21. TGF-b induces p15 inhibition of cycD/CDK. cAMP induces p27 inhibition of cycD/CDK. GSK3b induction of cycD degradation, and INK4, Kip, and Cdc25A regulate cycD/CDK activity.|NCI|N|
C1517345|G2/M Arrest consists of cellular biochemical mechanisms, responsive to diverse conditions, that control cellular transition from the G2 to M phase of the cell cycle. Cdc2/cycB regulates this transition. During G2, Cdc2 is inactivated by Wee1 and Mt1 kinases. Activation of Cdc25 phosphatase activates Cdc2. If genome damage has occurred, activated DNA-PK/ATM/ATR kinases inactivate Cdc2/cycB by two channels. First, Cdc25 is inactivated by CHK kinases. Second, phosphorylated p53 dissociates from MDM2, is acetylated by p300/PCAF, binds DNA, and activates transcription of genes that inhibit Cdc2/cyclin (14-3-3s, GADD45, and p21Cip1).|NCI|N|
C1517346|Progression from G2 phase to M phase of the standard mitotic cell cycle. (From Gene Ontology)|NCI|N|
C1517349|A process that involves the binding of gamma-aminobutyric acid to a GABA A receptor. These interactions are involved in inhibition of neurotransmission.|NCI|N|
C1517350|A process that involves the non-covalent binding of gamma-amino butyric acid to the gamma-amino butyric acid type b receptor. This interaction is involved in the stimulation of Gs protein-dependent signaling, which regulates potassium ion flux, neuronal action potentials, voltage-dependent calcium channel activity and neurotransmitter release.|NCI|N|
C1517352|GD2 Binding Interaction involves non-covalent attachment of a molecule through intermolecular physical forces of attraction to a widely expressed cell surface ganglioside antigen, GD2.|NCI|N|
C1517353|GD3 Binding Interaction involves non-covalent attachment of a molecule through intermolecular physical forces of attraction to a cell surface liposaccharide disialoganglioside, GD3.|NCI|N|
C1517369|The series of molecular signals initiated by a ligand binding to its receptor, in which the activated receptor promotes the exchange of GDP for GTP on the alpha-subunit of an associated heterotrimeric G-protein complex. The GTP-bound activated alpha-G-protein then dissociates from the beta- and gamma-subunits to further transmit the signal within the cell. The pathway begins with receptor-ligand interaction, and ends with regulation of a downstream cellular process. The pathway can start from the plasma membrane, Golgi or nuclear membrane. [GOC:bf, GOC:mah, PMID:16902576, PMID:24568158, Wikipedia:G_protein-coupled_receptor]|GO|N|
C1517377|A cellular process that initiates with the binding of a G protein-associated transmembrane receptor to its cognate ligand,and results in a specific cellular response. This process is involved in signaling related to neurotranmission, immune responses, and cellular metabolism, differentiation and proliferation.|NCI|N|
C1517384|A chromosomal aberration where there are 3 copies of the long arm of chromosome 12. This aberration is associated with 12q duplication syndrome.|NCI|N|
C1517390|A cytogenetic abnormality that refers to allelic gain of all or part of the chromosomal arm 15q.|NCI|N|
C1517392|A cytogenetic abnormality that refers to the allelic gain of all or part of chromosome 17.|NCI|N|
C1517394|A cytogenetic abnormality that refers to the duplication of all or part of the long arm of chromosome 17.|NCI|N|
C1517401|A cytogenetic abnormality that refers to allelic gain within the chromosomal arm 1q.|NCI|N|
C1517404|A cytogenetic abnormality that refers to allelic gain of all or part of the chromosomal arm 20q.|NCI|N|
C1517408|A cytogenetic abnormality that refers to the duplication of all or part of the short arm of chromosome 2.|NCI|N|
C1517412|A cytogenetic abnormality that refers to allelic gain of all or part of the chromosomal arm 5q.|NCI|N|
C1517415|A chromosomal abnormality that refers to the gain of genetic material in the short arm of chromosome 6.|NCI|N|
C1517417|A cytogenetic abnormality that refers to the allelic gain of all or part of chromosome 7.|NCI|N|
C1517422|A cytogenetic abnormality that refers to the allelic gain of all or part of chromosome 8.|NCI|N|
C1517423|A chromosomal abnormality that refers to the gain of genetic material in the long arm of chromosome 8.|NCI|N|
C1517424|A cytogenetic abnormality that refers to the allelic gain of all or part of chromosome 9.|NCI|N|
C1517426|A cytogenetic abnormality that refers to allelic gain of all or part of the chromosomal arm 9q.|NCI|N|
C1517444|A ganglioneuroblastoma characterized by the presence of neuroblastic cells in a Schwannian stroma, without the presence of hemorrhagic neuroblastic nodules.|NCI|N|
C1517445|A ganglioneuroblastoma characterized by the presence of neuroblastic cells in a Schwannian stroma, and the formation of hemorrhagic neuroblastic nodules.|NCI|N|
C1517446|A finding indicating the presence of large ganglion cells, neural cellular infiltrates and a stroma with Schwannian differentiation in a neoplastic tissue specimen.|NCI|N|
C1517478|A variation in or modification of the nucleic acid sequence of a gene that can alter its expression and may result in either a congenital disorder or the clinical presentation of a disease.|NCI|N|
C1517502|Generation of Antibody Diversity during B-lymphocyte development results from a cascade of temporally ordered random gene shuffling translocations by a recombinase that join any one of multiple alternative discrete V, D, and J (heavy chain) or V and J (light chain) antibody gene variable region DNA coding segments that produce in each B-lymphocyte an antibody with a unique antigen binding region composed of a heavy and a light protein chain. In addition, splicing inaccuracies or insertion of additional nucleotides at the segment junctions generate further junctional diversity and somatic hypermutation of V regions, as B-lymphocytes proliferate, create better fitting antigen-binding sites.|NCI|N|
C1517538|A rare malignant trophoblastic tumor that arises from the ovary as a result of ectopic ovarian pregnancy. There is no germ cell component present.|NCI|N|
C1517555|A classic form of gliomatosis cerebri. It is characterized by diffuse growth of neoplastic glial tissue without any focal mass.|NCI|N|
C1517567|Metastasis that involves transfer of malignant cells via the cardiovascular system from one organ or part to another that is not directly connected with it.|NCI|N|
C1517568|Passage or transfer, as of a disease, by intravenous injection with shared drug paraphernalia from a donor intravenous drug abuser to a recipient intravenous drug abuser. (NCI)|NCI|N|
C1517577|An invasive breast carcinoma characterized by the presence of more than one malignant epithelial histologic pattern.|NCI|N|
C1517578|Invasive neuroendocrine carcinoma of the prostate gland occurring in a mouse.|NCI|N|
C1517579|An invasive bladder urothelial carcinoma exhibiting micropapillary growth pattern.|NCI|N|
C1517594|Ion Exchanger Interaction consists of temporary non-covalent binding of a molecule through intermolecular physical forces of attraction with a membrane associated enzyme, or complex, involved in ATP-dependent transmembrane transport of a positively (cation) or negatively (anion) charged atom or radical against a concentration gradient resulting directly from the expenditure of energy.|NCI|N|
C1517596|Any cellular process involved in the translocation of charged macromolecules, solutes and solvents into or out of a cell.|NCI|N|
C1517598|Iron Chelation involves non-covalent coordination bonding between iron and an organic chemical, often as part of an enzyme or protein complex, as in the iron-binding porphyrin group of hemoglobin.|NCI|N|
C1517599|Iron Uptake Inhibition involves interference with, or restraint of, subcellular or molecular processes directly involved in the physical translocation from the extracellular to intracellular compartment of the metallic element Iron, which forms part of hemoglobin and enzyme systems essential for energy metabolism.|NCI|N|
C1517608|Isoprenylation Inhibition involves interference with, or restraint of, enzymatic activities involved in covalent addition of prenyl and multiprenyl residues to polypeptide chains after assembly from messenger RNA at the ribosome.|NCI|N|
C1517627|A juvenile granulosa cell tumor that involves both ovaries.|NCI|N|
C1517648|A molecular genetic abnormality indicating the presence of multiple copies of the KRAS gene.|NCI|N|
C1517658|A variant of cervical squamous cell carcinoma characterized by the presence of keratin pearls. Intercellular bridges and cytoplasmic keratinization are usually present.|NCI|N|
C1517677|Infiltration of the bone marrow by a malignant neoplasm.|NCI|N|
C1517684|A molecular genetic abnormality indicating the presence of multiple copies of the MYCL gene.|NCI|N|
C1517744|Late yaws is the tertiary, non-contagious stage of yaws, endemic tropical treponemal nonvenereal infection. Late yaws is characterized by destructive and deforming lesions of the skin, bones, and joints.|NCI|N|
C1517825|Leukotriene Degradation consists of conjugation, transport, and/or oxidation of a family of oxidative derivatives of arachidonic acid (5-lipoxygenase pathway) (leukotrienes) having potent regulatory effects on the activity of cardiovascular, pulmonary, central neural, gastrointestinal, and immune system cells involved in host defense, immediate hypersensitivity, and inflammation.|NCI|N|
C1517827|A process that involves the non-covalent binding of leukotrienes to one of three leukotriene receptors. These interactions are involved in neutrophil chemotaxis, endothelial cell adherence and cytokine production.|NCI|N|
C1517842|A non-neoplastic and self-limited condition that occurs during pregnancy. It is characterized by proliferation of luteinized stromal cells that replace the normal ovarian stromal cells. It is usually manifested with bilateral multinodular ovarian masses. Treatment is not required.|NCI|N|
C1517866|Lewis Y Antigen Binding involves non-covalent interaction of a molecule through intermolecular physical forces of attraction with the Lewis Y cell surface antigen.|NCI|N|
C1517874|An adverse event that has life-threatening consequences; for which urgent intervention is indicated; that puts the patient at risk of death at the time of the event if immediate intervention is not undertaken.|NCI|N|
C1517880|Ligand Binding is the tight and specific (high affinity) interaction between a small molecule (typically) and a macromolecule (usually protein) that ordinarily results in modification of its function, e.g., antigen-antibody binding, hormone- or neurotransmitter-receptor binding.|NCI|N|
C1517894|An invasive breast carcinoma characterized by the presence of cytoplasmic neutral lipids in the vast majority of the malignant cells.|NCI|N|
C1517940|The situation where a person has survived a disease for years|NCI|N|
C1517946|A cytogenic abnormality that refers to loss of all or part of chromosome 1.|NCI|N|
C1517947|A cytogenic abnormality that refers to loss of all or part of chromosome 10.|NCI|N|
C1517948|A cytogenetic abnormality that refers to the loss of all or part of the short arm of chromosome 10 (10p).|NCI|N|
C1517949|A cytogenetic abnormality that refers to the loss of all or part of the long arm of chromosome 10 (10q).|NCI|N|
C1517950|A cytogenic abnormality that refers to loss of all or part of chromosome 11.|NCI|N|
C1517952|A cytogenetic abnormality that refers to the loss of all or part of the long arm of chromosome 11 (11q).|NCI|N|
C1517953|A cytogenetic abnormality that refers to a deletion involving the long arm of chromosome 11 (11q) that also results in the deletion of the ATM gene.|NCI|N|
C1517954|A cytogenic abnormality that refers to loss of all or part of chromosome 12.|NCI|N|
C1517955|A cytogenetic abnormality that refers to the loss of all or part of the short arm of chromosome 12 (12p).|NCI|N|
C1517956|A cytogenetic abnormality that refers to the loss of all or part of the long arm of chromosome 12 (12q).|NCI|N|
C1517957|A cytogenic abnormality that refers to loss of all or part of chromosome 13.|NCI|N|
C1517959|A cytogenic abnormality that refers to loss of all or part of chromosome 14.|NCI|N|
C1517960|A cytogenetic abnormality that refers to the loss of all or part of the long arm of chromosome 14 (14q).|NCI|N|
C1517961|A cytogenic abnormality that refers to loss of all or part of chromosome 16.|NCI|N|
C1517962|A cytogenetic abnormality that refers to the loss of all or part of the short arm of chromosome 16 (16p).|NCI|N|
C1517963|A cytogenetic abnormality that refers to the loss of all or part of the long arm of chromosome 16 (16q).|NCI|N|
C1517964|A cytogenic abnormality that refers to loss of all or part of chromosome 17.|NCI|N|
C1517965|A cytogenetic abnormality that refers to the loss of all or part of the short arm of chromosome 17 (17p).|NCI|N|
C1517966|A cytogenetic abnormality that refers to the loss of all or part of the long arm of chromosome 17 (17q).|NCI|N|
C1517967|A cytogenic abnormality that refers to loss of all or part of chromosome 18.|NCI|N|
C1517968|A cytogenetic abnormality that refers to the loss of all or part of the short arm of chromosome 18 (18p).|NCI|N|
C1517969|A cytogenetic abnormality that refers to the loss of all or part of the long arm of chromosome 18 (18q).|NCI|N|
C1517970|A cytogenic abnormality that refers to loss of all or part of chromosome 19.|NCI|N|
C1517971|A cytogenetic abnormality that refers to the loss of all or part of the long arm of chromosome 19 (19q). It has been described in gliomas and hemangiopericytomas.|NCI|N|
C1517972|A cytogenetic abnormality that refers to the loss of all or part of the short arm of chromosome 1 (1p). It has been described in gliomas, meningiomas, neuroblastomas, hepatocellular carcinomas, breast carcinomas, acinar prostate adenocarcinomas, pancreatic carcinomas, and adrenal gland adenomas.|NCI|N|
C1517973|A cytogenic abnormality that refers to loss of all or part of chromosome 2.|NCI|N|
C1517974|A cytogenic abnormality that refers to loss of all or part of the long arm of chromosome 20 (20q).|NCI|N|
C1517975|A cytogenic abnormality that refers to loss of all or part of chromosome 21.|NCI|N|
C1517976|A cytogenic abnormality that refers to loss of all or part of chromosome 22.|NCI|N|
C1517977|A cytogenetic abnormality that refers to the loss of all or part of the long arm of chromosome 22 (22q).|NCI|N|
C1517978|A cytogenetic abnormality that refers to the loss of all or part of the short arm of chromosome 2 (2p).|NCI|N|
C1517979|A cytogenetic abnormality that refers to the loss of all or part of the long arm of chromosome 2 (2q).|NCI|N|
C1517980|A cytogenic abnormality that refers to loss of all or part of chromosome 3.|NCI|N|
C1517981|A cytogenetic abnormality that refers to the loss of all or part of the short arm of chromosome 3.|NCI|N|
C1517983|A cytogenic abnormality that refers to loss of all or part of chromosome 4.|NCI|N|
C1517984|A cytogenetic abnormality that refers to the loss of all or part of the long arm of chromosome 4 (4q).|NCI|N|
C1517985|A cytogenic abnormality that refers to loss of all or part of chromosome 5.|NCI|N|
C1517986|A cytogenic abnormality that refers to loss of all or part of chromosome 6.|NCI|N|
C1517987|A cytogenetic abnormality that refers to the loss of all or part of the short arm of chromosome 6 (6p).|NCI|N|
C1517988|A cytogenetic abnormality that refers to the loss of all or part of the long arm of chromosome 6 (6q).|NCI|N|
C1517989|A cytogenic abnormality that refers to loss of all or part of chromosome 7.|NCI|N|
C1517990|A cytogenic abnormality that refers to loss of all or part of the long arm of chromosome 7 (7q). It is associated with the development of chronic myelomonocytic leukemia with eosinophilia, refractory anemia with excess blasts, refractory anemia with multilineage dysplasia, and refractory anemia with multilineage dysplasia and ringed sideroblasts.|NCI|N|
C1517991|A cytogenic abnormality that refers to loss of all or part of chromosome 8.|NCI|N|
C1517992|A cytogenetic abnormality that refers to the loss of all or part of the short arm of chromosome 8 (8p).|NCI|N|
C1517993|A cytogenic abnormality that refers to loss of all or part of chromosome 9.|NCI|N|
C1517994|A cytogenetic abnormality that refers to the loss of all or part of the short arm of chromosome 9 (9p).|NCI|N|
C1517995|A cytogenetic abnormality that refers to the loss of all or part of the long arm of chromosome 9 (9q). It is associated with the development of acute myeloid leukemia and various types of carcinomas.|NCI|N|
C1517996|A cytogenic abnormality that refers to loss of all or part of the X chromosome.|NCI|N|
C1517997|A cytogenetic abnormality that refers to the loss of all or part of the sex-determining chromosome Y. It is associated with the development of the accelerated and blast phases of chronic myelogenous leukemia, BCR-ABL1 positive, and various types of carcinomas.|NCI|N|
C1517999|A molecular abnormality indicating the absence of merlin protein.|NCI|N|
C1518003|Genomic instability associated with the presence of hypermutation either in one microsatellite instability (MSI) marker or in between 10 and 30 percent of the MSI markers in a tumor sample.|NCI|N|
C1518005|A precancerous neoplastic process that affects the cervical squamous epithelium without evidence of invasion. It is usually associated with human papillomavirus infection. It is characterized by the presence of mild atypia in the superficial epithelial layer that may be associated with koilocytosis. Maturation is present in the upper two thirds of the epithelium. Mitotic figures are not numerous and are present in the basal third of the epithelium.|NCI|N|
C1518006|Bladder non-invasive papillary urothelial carcinoma characterized by minimal cytologic atypia and infrequent mitotic figures (usually limited to the lower half of the tumor). This type of carcinoma recurs frequently, may invade the bladder wall, and has a low risk of progression.|NCI|N|
C1518013|A low grade metaplastic carcinoma of the breast with morphologic features similar to the adenosquamous carcinoma of the skin. In the majority of cases the prognosis is excellent.|NCI|N|
C1518022|A rare invasive mesenchymal tumor that arises from the ovary. It is characterized by the absence of marked pleomorphism and nuclear atypia in the neoplastic mesenchymal cells. It may have a favorable clinical outcome.|NCI|N|
C1518038|An intermediate fibroblastic neoplasm arising from the lung. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes and plasma cells.|NCI|N|
C1518064|An antiquated term that refers either to nodular lymphocyte predominant Hodgkin lymphoma or to lymphocyte-rich classical Hodgkin lymphoma.|NCI|N|
C1518094|A phase of the virus life cycle during which the virus replicates within the host cell, releasing a new generation of viruses when the infected cell lyses.|NCI|N|
C1518116|A molecular genetic abnormality indicating the presence of multiple copies of the MDM2 gene.|NCI|N|
C1518117|A change in the nucleotide sequence of the MDM2 gene.|NCI|N|
C1518121|A change in the nucleotide sequence of the MET gene.|NCI|N|
C1518124|MHC Interaction involves temporary non-covalent binding of a molecule through intermolecular physical forces of attraction with protein complexes on the surface of diverse cell types that typically mediate cellular cooperation in the immune response.|NCI|N|
C1518128|Expression of a fusion protein that results from the insertion mutation ins(5;11)(q31;q13q23), which involves the human genes KMT2A and AFF1 and is associated with acute lymphoblastic leukemia.|NCI|N|
C1518129|Expression of a fusion protein that results from a t(9;11)(p22;q23) translocation, which involves the human genes KMT2A and MLLT3 and is associated with many leukemias.|NCI|N|
C1518132|Expression of a fusion protein that results from a t(11;19)(q23;p13.3) translocation which fuses the 5'' half of the KMT2A gene to most of the MLLT1 gene and is associated with acute lymphoblastic leukemia and other leukemia types.|NCI|N|
C1518158|The process of transferring reducing equivalents from the cytosol into the mitochondria; NADH is used to synthesise malate in the cytosol; this compound is then transported into the mitochondria where it is converted to oxaloacetate using NADH, the oxaloacetate reacts with gluamate to form aspartate, and the aspartate then returns to the cytosol to complete the cycle. [GOC:jl, GOC:mtg_electron_transport, ISBN:0716743663]|GO|N|
C1518164|A primary or metastatic malignant neoplasm that affects the male urethra.|NCI|N|
C1518167|An invasive malignant tumor that arises from the breast. It is characterized by the presence of spindle-shaped myoepithelial cells. Mitoses are present. Rarely, local recurrences and distant metastases have been reported.|NCI|N|
C1518168|A mixed epithelial and mesenchymal neoplasm that arises from the cervix. It is characterized by the presence of malignant mesenchymal elements and benign or malignant epithelial elements. This category includes adenosarcoma and carcinosarcoma.|NCI|N|
C1518171|The transformation of a cell or cell population from a pre- or non-malignant condition to a malignant condition. (NCI)|NCI|N|
C1518189|An antiquated term that refers to a morphologic variant of non-Hodgkin lymphoma which is composed predominantly or exclusively of large neoplastic lymphocytes.|NCI|N|
C1518230|An invasive malignant neoplasm that arises from the ovary and is characterized by a predominance of clear and hobnail malignant epithelial cells.|NCI|N|
C1518231|An invasive malignant neoplasm that arises from the ovary characterized by the presence of malignant, endometrial-type cells. It includes endometrioid adenocarcinoma and carcinosarcoma.|NCI|N|
C1518233|An invasive malignant neoplasm that arises from the ovary and is characterized by the presence of malignant epithelial cells that contain intracytoplasmic mucin and may resemble the epithelial cells of the endocervix or gastrointestinal tract. It includes mucinous adenocarcinoma and mucinous adenocarcinofibroma.|NCI|N|
C1518234|An invasive malignant neoplasm that arises from the ovary and is characterized by the presence of malignant epithelial cells that, in well differentiated tumors, resemble the epithelium of the fallopian tube or, in poorly differentiated tumors, show anaplastic features and marked nuclear atypia. It includes serous adenocarcinoma and serous adenocarcinofibroma.|NCI|N|
C1518236|An invasive malignant tumor that originates from the surface epithelium of the ovary. It is composed of malignant epithelial cells and stroma. Representative examples include serous adenocarcinoma, mucinous adenocarcinoma, endometrioid adenocarcinoma, clear cell adenocarcinoma, and malignant Brenner tumor.|NCI|N|
C1518276|Neuroendocrine cell carcinoma of the intestinal tract occurring in a mouse.|NCI|N|
C1518296|The origin or causation of a disease of the nervous system.|NCI|N|
C1518304|Processes by which certain microorganisms and toxins are attracted to nervous tissue.|NCI|N|
C1518315|A nevus that arises from the female genital organs. This category includes congenital nevus, acquired nevus, dysplastic nevus, blue nevus, and atypical melanocytic nevus of the genital type.|NCI|N|
C1518339|Nitrosamine Metabolism involves important cellular biochemical detoxification reactions that chemically modify the N-nitroso derivatives of secondary amines, formed by the combination of nitrates with amines. Some nitrosamines show carcinogenic activity; under certain conditions, nitrite-containing foods can form nitrosamines.|NCI|N|
C1518340|Diagnostic tests fail to detect presence of disease.|NCI|N|
C1518343|An impulse that gives rise to sensations of pain.|NCI|N|
C1518345|A lesion characterized by the presence of one or more nodules.|NCI|N|
C1518352|A term that usually refers to the clinical course of lymphomas and indicates that the cancerous lymph nodes are not next to each other, but are on the same side of the diaphragm.|NCI|N|
C1518355|A malignant germ cell tumor that arises from the ovary and is composed of cytotrophoblasts, syncytiotrophoblasts, and extravillous trophoblasts. The prognosis is less favorable than gestational choriocarcinoma.|NCI|N|
C1518358|A non-invasive papillary neoplasm of the bladder urothelium.|NCI|N|
C1518361|A non-invasive neoplasm affecting the urothelium.|NCI|N|
C1518366|A variant of cervical squamous cell carcinoma characterized by the presence of polygonal squamous cells. Intercellular bridges and cytoplasmic keratinization may be present, but keratin pearls are absent.|NCI|N|
C1518374|A disorder that arises from the bone marrow or lymphoid system and is characterized by the absence of a clonal cellular component. It rarely progresses to a malignant neoplasm.|NCI|N|
C1518380|A category of non-neoplastic gestational trophoblastic disorders that includes the exaggerated placental site reaction and placental site nodule or plaque. It does not include hydatidiform mole.|NCI|N|
C1518404|Any adverse experience that does not meet the definition of serious. Non-serious adverse events are classified as mild, moderate and severe.|NCI|N|
C1518437|Having nuclei with various distinct forms.|NCI|N|
C1518447|Process by which a nucleic acid macromolecule assumes an energetically favorable three-dimensional conformation as a result of intrinsic and extrinsic atomic physical forces. (NCI)|NCI|N|
C1518454|A process that involves the non-covalent binding of nucleosides to nucleoside receptor proteins. This interaction plays a role in the initiation of signal transduction.|NCI|N|
C1518461|Nucleotide Metabolism Alteration involves a change in the quality of the existing state of activities of biologic molecules or complexes involved in the enzymatic formation or degradation of nucleoside phosphates, the monomeric building blocks from which DNA or RNA polymers are constructed.|NCI|N|
C1518472|An irregularity in the number of chromosomes.|NCI|N|
C1518537|Passage or transfer, as of a disease, to a recipient individual within or due to occupational circumstances. (NCI)|NCI|N|
C1518571|A gastrointestinal stromal tumor that arises from the omentum. This is an extragastrointestinal tumor, meaning that it does not arise directly from the gastrointestinal tract.|NCI|N|
C1518574|A rare breast adenocarcinoma characterized by the presence of malignant oncocytic cells. The oncocytic cells comprise more than 70 percent of the malignant cellular population.|NCI|N|
C1518575|Any DNA sequence alteration process occurring in a proto-oncogene, resulting in loss of regulation of the gene product, and predisposing the cell to neoplastic transformation. Proto-oncogenes are ordinarilly involved in transduction of signals that regulate cell growth and differentiation. Activation of such genes overrides the normal mechanisms of regulation and is an important step in the process of cellular transformation.|NCI|N|
C1518591|A process that involves the non-covalent binding of opioids to one of four opioid receptors. These interactions are involved in mediation of analgesia, euphoria, and physical dependence to opioids.|NCI|N|
C1518640|A bone lesion that is associated with unusual thickening of the bone.|NCI|N|
C1518681|The result of therapy for a given disease or condition in a patient or group of patients.|NCI|N|
C1518691|A germ cell tumor that arises from the ovary and is composed of tissues that originate from two or three of the following germ layers, endoderm, ectoderm, or mesoderm.|NCI|N|
C1518693|A rare, malignant, epithelilal ovarian neoplasm, composed of clear, eosinophilic and hobnail cells displaying variable degrees of tubulocystic, papillary and solid histological patterns, macroscopically appearing as a typically unilateral mass in the ovary which ranges from solid to cystic. Patients are often diagnosed in early stages and usually present with pelvic pain and pressure, an abdominal mass and/or gastrointestinal problems, such as early satiety or bloating. Association with Lynch syndrome has been reported.|ORDO|N|
C1518694|An uncommon benign neoplasm of glandular epithelium characterized by the presence of clear or hobnail cells within a dense fibrous stroma.|NCI|N|
C1518695|A benign neoplasm of glandular epithelium characterized by the presence of clear or hobnail cells within a dense fibrous stroma and cystic structures.|NCI|N|
C1518696|A secondary adenocarcinoma that has developed in an ovarian dermoid cyst.|NCI|N|
C1518697|A secondary angiosarcoma that has developed in an ovarian dermoid cyst.|NCI|N|
C1518698|A corticotropin secreting adenoma that has developed in an ovarian dermoid cyst. It may present with Cushing syndrome. The clinical course is benign.|NCI|N|
C1518699|A secondary leiomyosarcoma that has developed in an ovarian dermoid cyst.|NCI|N|
C1518700|A secondary melanocytic nevus that has developed in an ovarian dermoid cyst.|NCI|N|
C1518701|A secondary melanoma that has developed in an ovarian dermoid cyst.|NCI|N|
C1518702|A prolactin secreting adenoma that has developed in an ovarian dermoid cyst. It may present with hyperprolactinemia and amenorrhea. The clinical course is benign.|NCI|N|
C1518703|A secondary sebaceous adenoma that has developed in an ovarian dermoid cyst.|NCI|N|
C1518704|A secondary sebaceous carcinoma that has developed in an ovarian dermoid cyst.|NCI|N|
C1518705|A secondary carcinoma that has developed in an ovarian dermoid cyst. In the majority of cases, the secondary carcinoma is a squamous cell carcinoma.|NCI|N|
C1518706|A secondary melanoma or melanocytic nevus that has developed in an ovarian dermoid cyst.|NCI|N|
C1518707|A secondary corticotropin secreting adenoma or prolactin secreting adenoma that has developed in an ovarian dermoid cyst. The clinical course is benign.|NCI|N|
C1518708|A secondary sarcoma that has developed in an ovarian dermoid cyst. Representative examples of secondary sarcomas include leiomyosarcoma, fibrosarcoma, and angiosarcoma.|NCI|N|
C1518709|A secondary sebaceous adenoma or sebaceous carcinoma that has developed in an ovarian dermoid cyst.|NCI|N|
C1518710|A secondary squamous cell carcinoma that has developed in an ovarian dermoid cyst.|NCI|N|
C1518711|A malignant neoplasm of the ovary characterized by the presence of malignant glandular cells resembling endometrial cells in a fibrotic stroma.|NCI|N|
C1518713|A benign neoplasm of the ovary characterized by the presence of cystic structures lined by endometrial-type well-differentiated cells.|NCI|N|
C1518715|A rare type of teratoma that arises from the ovary and resembles a malformed fetus.|NCI|N|
C1518716|The presence of a gonadoblastoma of the ovary.|HPO|N|
C1518718|A carcinoid tumor that arises from the ovary and is characterized by the presence of round cells with abundant eosinophilic cytoplasm forming cribriform patterns. Clinical manifestations of carcinoid syndrome occur in approximately thirty percent of patients. The prognosis is favorable.|NCI|N|
C1518719|A Leydig cell tumor that arises from the ovarian stroma.|NCI|N|
C1518720|A lymphoma that affects the ovary. Lymphomatous involvement of the ovary is rare and in approximately half of the cases both ovaries are affected.|NCI|N|
C1518721|A rare malignant mesothelial neoplasm that usually involves both the ovarian surface and the ovarian stroma. In most cases there is bilateral ovarian involvement.|NCI|N|
C1518723|A benign neoplasm of the ovary characterized by the presence of glands with mucinous columnar epithelial cells in a fibrotic stroma.|NCI|N|
C1518724|A rare carcinoid tumor that arises from the ovary and is characterized by the presence of glands that are lined by cells that contain intracytoplasmic mucin or resemble goblet cells. Pools of mucin, containing glands, may also be present. It may have an aggressive clinical course and it can metastasize to other anatomic sites.|NCI|N|
C1518725|A benign neoplasm of the ovary characterized by the presence of cystic structures lined by mucinous columnar epithelial cells in a fibrotic stroma.|NCI|N|
C1518726|The presence of abundant mucoid or gelatinous, cellular or acellular material in the pelvis and abdominal cavity (pseudomyxoma peritonei) that is associated with the presence of an ovarian mucinous cystic tumor. In the vast majority of cases, the presence of pseudomyxoma peritonei is the result of metastasis from a primary appendiceal or gastrointestinal tumor site, and the ovarian mucinous tumor is metastatic rather than primary.|NCI|N|
C1518727|A malignant tumor that arises from the ovary and is characterized by the presence of malignant germ cell components but lacks a teratoma component.|NCI|N|
C1518728|A Sertoli-Leydig cell tumor of the ovary in which anastomosing, slit-like spaces resembling rete testis constitute at least 90% of the tumor elements. It may present with estrogenic and less often androgenic manifestations. It usually follows a benign clinical course.|NCI|N|
C1518729|A benign neoplasm of the ovary characterized by the presence of glands with serous epithelial cells in a fibrotic stroma.|NCI|N|
C1518730|A Sertoli-Leydig cell tumor that arises from the ovary. It is characterized by the presence of epithelial and/or mesenchymal components and neoplasms that arise from these components.|NCI|N|
C1518732|A sex cord-stromal tumor that arises from the ovary and is composed entirely of, or in various combinations of, Sertoli cells, Leydig cells, and fibroblast-like cells.|NCI|N|
C1518733|A sex cord-stromal tumor that arises from the ovary in a patient diagnosed with Peutz-Jeghers syndrome.|NCI|N|
C1518735|A rare, benign sex cord-stromal tumor that arises from the ovary. It is characterized by the presence of round cells with a single cytoplasmic vacuole and an eccentric nucleus resembling signet ring cells. Mucin stains are negative.|NCI|N|
C1518736|An undifferentiated small cell carcinoma that arises from the ovary and is associated with hypercalcemia. Electron microscopic studies show neurosecretory granules are either absent or, when present, are in small numbers.|NCI|N|
C1518737|An aggressive small cell neuroendocrine carcinoma that arises from the ovary. Morphologically, it resembles the small cell carcinoma that arises from the lung.|NCI|N|
C1518740|A steroid cell tumor that arises from the ovary and is defined by morphologic features that do not fit into the categories of Leydig cell tumor and stromal luteoma. These features include solid proliferations of polygonal neoplastic cells with eosinophilic and granular cytoplasm. Grossly, these tumors usually present as large and well circumscribed masses and are usually associated with androgenic manifestations. Approximately one third of the cases have a malignant clinical course.|NCI|N|
C1518741|A rare, benign and well circumscribed stromal tumor of the ovary. It is characterized by the presence of a fibrotic stroma with clusters of Leydig cells. The Leydig cells contain crystals of Reinke. Patients may present with virilization.|NCI|N|
C1518742|A non-neoplastic disorder that usually affects postmenopausal women. It is characterized by proliferation of ovarian stromal cells without evidence of atypia. There is usually bilateral ovarian involvement. The ovaries may or may not be enlarged.|NCI|N|
C1518743|A non-neoplastic disorder that usually affects postmenopausal women. It is characterized by the leuteinization of ovarian stromal cells. The ovaries are bilaterally involved and enlarged. When it affects women in reproductive age, it causes virilization, high blood pressure, and increased insulin levels.|NCI|N|
C1518745|A carcinoid tumor that arises from the ovary and is characterized by the presence of columnar cells with abundant cytoplasm forming ribbons. The prognosis is excellent.|NCI|N|
C1518746|An embryonal neoplasm arising from the ovary with morphologic features resembling Wilms tumor of the kidney. It occurs during the reproductive age and may present as a rapidly growing adnexal mass.|NCI|N|
C1518747|A yolk sac tumor that arises from the ovary and is characterized by the presence of extensive differentiation into endodermal type glandular structures.|NCI|N|
C1518748|A yolk sac tumor that arises from the ovary and is characterized by the presence of extensive differentiation into hepatic tissue.|NCI|N|
C1518749|A yolk sac tumor that arises from the ovary and is characterized by the presence of multiple dilated spaces lined by cells that resemble mesothelial cells. The dilated spaces coexist with columnar epithelial tissues.|NCI|N|
C1518759|An Oxidation-Reduction Interaction is a non-enzymatic physical interaction between atoms or radicals in which the positive charges on an atom increase (or the negative charges on that atom decrease) while the negative charges on the other atom increase (or the positive charges on that other atom decrease).|NCI|N|
C1518760|Oxidative Regulation involves cellular and biochemical mechanisms that localize and control oxidation/reduction reactions, or that constrain their byproducts, in order to maintain cellular health and homeostasis.|NCI|N|
C1518761|Oxidative Stress Induction involves initiation of activities that induce a disturbance in the pro-oxidant/antioxidant balance, leading to disruption of cell function by superoxide and other free radicals through damage to DNA bases, protein oxidation products, and lipid peroxidation products. Not synonymous with hypoxia or hyperoxia, oxidative stress promotes a range of degenerative disorders.|NCI|N|
C1518768|A primary endometrioid adenocarcinoma of the endometrium characterized by the presence of eosinophilic malignant glandular epithelial cells.|NCI|N|
C1518782|A molecular genetic abnormality indicating the presence of a mutation in the PDGFRA (platelet-derived growth factor receptor, alpha polypeptide) gene on chromosome 4q12.|NCI|N|
C1518796|A fusion protein encoded by a t(15;17) translocation, which involves the human genes ZBTB16 and RARA and is characteristic of acute promyelocytic leukemia. It is a transcriptional repressor with both gain-of-function and dominant-negative properties, resulting in transcriptional repression of retinoic acid and non-retinoic acid target genes and culminating in differentiation arrest.|NCI|N|
C1518798|Expression of a fusion protein that results from a fusion of the human genes PML and RARA.|NCI|N|
C1518800|A change in the nucleotide sequence of the PMS2 gene that either inhibits expression or results in the translation of an inactive mismatch repair endonuclease PMS2 protein.|NCI|N|
C1518830|A molecular genetic abnormality indicating the presence of an inactivating mutation in the PTEN gene on chromosome 10q23.|NCI|N|
C1518868|A non-invasive pancreatic intraductal papillary mucinous neoplasm characterized by the presence of neoplastic epithelial cells that form a single layer and are well polarized. The neoplastic cells exhibit small and uniform nuclei, mild pleomorphism, and rare mitotic figures.|MONDO|N|
C1518870|A cystic epithelial neoplasm characterized by the presence of columnar mucin-producing epithelial cells, ovarian-type stroma formation, and a focal or extensive invasive carcinomatous component.|NCI|N|
C1518871|A pancreatic intraductal papillary mucinous neoplasm characterized by the presence of a focal or multifocal invasive carcinomatous component. The invasive carcinoma is either colloid or ductal adenocarcinoma.|NCI|N|
C1518872|A non-invasive or invasive cystic epithelial neoplasm that affects almost exclusively females. It is characterized by the presence of columnar mucin-producing epithelial cells and ovarian-type stroma formation.|NCI|N|
C1518873|A non-invasive pancreatic intraductal papillary mucinous neoplasm characterized by the presence of neoplastic epithelial cells that exhibit loss of polarity, nuclear stratification, hyperchromasia, and pleomorphism. There is severe architectural atypia and frequent mitotic figures present.|NCI|N|
C1518875|A benign or malignant epithelial neoplasm that is usually cystic and arises from the exocrine pancreas. It is characterized by the presence of neoplastic epithelial cells that produce fluid similar to serum. Representative examples include serous cystadenoma and serous cystadenocarcinoma.|NCI|N|
C1518879|A low grade, unencapsulated neoplasm with papillary, tubular, or tubulopapillary architecture, less than 15 mm in size.|NCI|N|
C1518882|An invasive or non-invasive papillary urothelial carcinoma of the urinary bladder. It is classified as low or high-grade.|NCI|N|
C1518892|A process that involves the non-covalent binding of parathyroid hormone to one of the parathyroid hormone receptors. This interaction plays a role in signal transduction, which mediates the maintenance of calcium and magnesium homeostasis.|NCI|N|
C1518907|Induction or development of an organ or tissue disorder(s) that results from retroviral activity or arises due to the immunocompromised state of an HIV infected individual. (NCI)|NCI|N|
C1518908|Induction or development of a malignant disease(s) or condition(s) that results from retroviral activity or arises due to the immunocompromised state of an HIV infected individual. (NCI)|NCI|N|
C1518909|The pathogenic mechanisms involved in HIV-associated neurological diseases and neurobehavioral dysfunction.|NCI|N|
C1518910|Induction or development of microbe-induced disease(s) in an immunocompromised HIV infected individual.|NCI|N|
C1518911|Any event, process, or activity that produces a deleterious alteration of DNA. (NCI)|NCI|N|
C1518949|A basal cell carcinoma of the penis with an indolent clinical course. It is usually superficial and arises from the shaft and rarely the glans.|NCI|N|
C1518950|A primary or metastatic malignant neoplasm that affects the penile urethra.|NCI|N|
C1518965|A measure of how well a patient is able to perform ordinary tasks and carry out daily activities.|NCI|N|
C1518974|A neoplastic process characterized by the proliferation of spindle to cuboidal myoepithelial cells around small breast ducts.|NCI|N|
C1518979|Passage or transfer, as of a disease, to a recipient unborn offspring in utero. (NCI)|NCI|N|
C1519001|A benign, usually encapsulated slow growing tumor of the peripheral nervous system composed of Schwann cells. It recurs infrequently and only rare cases associated with malignant transformation have been reported.|NCI|N|
C1519009|A gastrointestinal stromal tumor that arises from the peritoneum. This is an extragastrointestinal tumor, meaning that it does not arise directly from the gastrointestinal tract.|NCI|N|
C1519062|Phosphorylation Inhibition involves interference with, or restraint of, the enzymatic creation of a phosphate derivative of an organic molecule; often by transfer of a phosphate group from ATP via the action of a kinase.|NCI|N|
C1519086|An astrocytic tumor of uncertain relation to pilocytic astrocytoma. It occurs predominantly in infants and young children. It is characterized by a monomorphic architectural pattern, usually associated with the absence of Rosenthal fibers and eosinophilic granular bodies. The clinical course is usually aggressive.|NCI|N|
C1519172|A carcinoma that arises from a pleomorphic adenoma in the salivary glands. It usually originates in the parotid gland. Patients usually present with a history of a long-standing tumor mass which grew rapidly in the past few months. Patients with non-invasive or minimally invasive carcinoma have an excellent prognosis. In cases where there is invasion of the surrounding tissues, the clinical course is aggressive.|NCI|N|
C1519175|A benign or malignant tumor that arises from the salivary glands. It is characterized by the presence of neoplastic cells with myoepithelial differentiation. This category includes benign myoepithelioma and myoepithelial carcinoma.|NCI|N|
C1519176|A rare tumor of salivary glands characterized by a benign, well-circumscribed, slow-growing, painless mass most commonly occurring in the parotid gland (but also the palate, submandibular gland, or nasal septal mucosa), histopathologically composed of epithelial and myoepithelial / stromal components. Possible signs and symptoms depend on the location of the tumor and include facial nerve weakness, mild dysphagia, or unilateral nasal obstruction. Recurrence rates are low, although tumor rupture and spillage have been reported. Malignant transformation may occur in a small percentage of cases.|ORDO|N|
C1519182|A basal cell carcinoma of the skin characterized by the presence of sarcomatoid features.|NCI|N|
C1519183|A microscopic finding indicating the presence of cells with sarcomatoid, usually spindle cell differentiation in a tumor sample.|NCI|N|
C1519184|A rare, aggressive variant of intrahepatic cholangiocarcinoma. It is characterized by the presence of adenocarcinoma cells that are intermingled with malignant pleomorphic spindle cells.|NCI|N|
C1519190|Peeling skin patches. Causes include psoriasis, eczema, and sunburns.|NCI|N|
C1519195|A verrucous squamous cell carcinoma of the bladder that is caused by Schistosoma hematobium.|NCI|N|
C1519204|A rare type of mucoepidermoid carcinoma of the thyroid gland, usually associated with chronic lymphocytic thyroiditis. It exhibits a unique morphologic appearance consisting of a squamoid, nested growth pattern, dense fibrosis, and mucinous differentiation. The histogenesis of this unusual carcinoma has been debated, and it is unclear if it arises from remnants of the ultimobranchial body or from the follicular epithelial cells.|NCI|N|
C1519207|A very rare breast adenocarcinoma with sebaceous differentiation.|NCI|N|
C1519214|A glioblastoma arising from a lower grade astrocytoma.|NCI|N|
C1519218|A transitional cell carcinoma that has spread to the prostate gland directly from the bladder.|NCI|N|
C1519233|An extremely rare adenocarcinoma that arises from the seminal vesicle.|NCI|N|
C1519234|A rare benign cystadenoma that arises from the seminal vesicle.|NCI|N|
C1519253|Serine/Threonine Phosphorylation involves covalent linkage of a phosphate group (from a donor compound such as ATP) with a serine or threonine residue of a Protein Kinase acceptor, often as a mechanism of kinase activity regulation.|NCI|N|
C1519255|Any expected or unexpected adverse event, related or unrelated to the intervention, occurring at any agent dose, any phase of product or procedure testing, that results in any of the following outcomes: death, a life-threatening adverse event, requires inpatient hospitalization (not required as part of the treatment) or prolongation of existing hospitalization, a persistent or significant disability or incapacity, or cancer, or a congenital anomaly or birth defect. Important medical events that may not result in the listed outcomes may be considered as serious when, based upon appropriate medical judgment, they represent significant hazards or potentially serious harm to the research subject or others and may require medical intervention to prevent one of the outcomes listed in this definition.|NCI|N|
C1519259|By induction of conjugation, transport, and/or oxidation, Serotonin Degradation consists of breakdown of a secreted biochemical messenger and regulator (serotonin) synthesized from L-Tryptophan that mediates neurotransmission, gastrointestinal motility, hemostasis, and cardiovascular integrity through multiple receptor families on specific target cells.|NCI|N|
C1519261|A process that involves the binding of serotonin to the serotonin receptor. These interactions are involved in regulation of mood, appetite, sleep, muscle contraction and some cognitive functions including memory and learning.|NCI|N|
C1519268|An indication that the concentration of soluble Fas ligand in a sample has increased when compared to a normal baseline or a previous sample measurement.|NCI|N|
C1519275|Severe or medically significant but not immediately life-threatening; hospitalization or prolongation of hospitalization indicated; disabling; limiting self care activites of daily living.|SNOMEDCT_US|N|
C1519276|An ovarian sex cord-stromal tumor characterized by the presence of Sertoli cells forming annular tubules. It may be associated with Peutz-Jeghers syndrome. Cases associated with Peutz-Jeghers syndrome have followed a benign clinical course. Cases which are not associated with Peutz-Jeghers syndrome have been reported having a clinically malignant course.|NCI|N|
C1519308|Signal induction is the intercellular or intracellular transfer of information (biological activation/inhibition) through a signal pathway. In each signal transduction system, an activation/inhibition signal from a biologically active molecule (e.g., hormone, neurotransmitter, etc.) is transferred to a receptor molecule through a physical binding interaction that alters the conformational and functional state of the receptor molecule and promotes an alteration in cell function.|NCI|N|
C1519309|Repression of any of several ways in which living cells of an organism communicate with one another, whether by direct contact between cells or by means of chemical signals.|NCI|N|
C1519320|A rare type of basal cell carcinoma. It is characterized by the presence of mucin containing signet ring cells.|NCI|N|
C1519321|An intrahepatic cholangiocarcinoma characterized by the presence of signet ring adenocarcinoma cells.|NCI|N|
C1519333|A microscopic finding indicating the invasion of sinusoidal spaces by malignant cells.|NCI|N|
C1519346|The process by which normal skin cells are transformed into cancer cells.|NCI|N|
C1519353|A small (less than 5-10 mm) elevation of skin that is non-suppurative.|NCI|N|
C1519368|An anaplastic large cell lymphoma characterized by the presence of numerous giant cells.|NCI|N|
C1519369|A are variant of anaplastic large cell lymphoma. It is characterized by presence of large spindle shaped cells resembling a soft tissue sarcoma.|NCI|N|
C1519370|An anaplastic large cell lymphoma, characterized by lymphoid cells with signet ring nuclei.|NCI|N|
C1519371|An enteropathy-associated T-cell lymphoma arising from the small intestine, most commonly the jejunum or ileum. Patients usually present with abdominal pain, often associated with intestinal perforation. It is associated with celiac disease. The lymphoma cells are usually medium-sized to large and form an ulcerating mucosal lesion with invasion of the small intestinal wall. Villous atrophy is present in the adjacent small intestinal mucosa. In a minority of cases the lymphoma cells are medium-sized and form a monomorphic infiltrate.|NCI|N|
C1519384|A record of an individual''s background in regard to smoking tobacco. This would include such factors as start date, end date (if applicable), number of cigarette smoked, attempts to quit, and others.|NCI|N|
C1519399|A process that involves the binding of a neurotransmitter to a ligand-gated sodium channel protein. This interaction plays a role in the regulation of signaling pathways that mediate muscle cell depolarization.|NCI|N|
C1519413|A radiologic finding indicating the presence of solitary area of bone destruction that results from the spread of cancer to the bone(s).|NCI|N|
C1519461|Spindle Assembly Interaction involves temporary non-covalent binding through intermolecular physical forces of attraction with the mitotic spindle that can affect spindle function and mitosis.|NCI|N|
C1519481|Any change in the DNA sequence of a breast tumor susceptibility gene that is not found in the parental samples.|NCI|N|
C1519485|A squamous cell carcinoma that arises from the breast parenchyma and is characterized by cellular discohesion resulting in a pseudoangiosarcomatous pattern.|NCI|N|
C1519486|A squamous cell carcinoma that arises from the breast parenchyma and is characterized by the presence of large malignant cells that exhibit keratinization.|NCI|N|
C1519487|A squamous cell carcinoma that arises from the breast parenchyma and is characterized by the presence of spindle-shaped malignant cells.|NCI|N|
C1519493|Squamous cell carcinoma of the pulmonary system occurring in a mouse.|NCI|N|
C1519494|A microscopic finding indicating the presence of cells with squamous differentiation in a tumor sample.|NCI|N|
C1519503|Stage 0 includes: 0a (Ta, N0, M0); 0is (Tis, N0, M0). Ta: Papillary noninvasive carcinoma. Tis: Carcinoma in situ. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C1519507|Stage III NHL means involvement of lymph node regions on both sides of the diaphragm (III) that may also be accompanied by localized involvement of an extralymphatic organ or site (IIIE), by involvement of the spleen (IIIS), or both (IIIS+E). (from PDQ)|NCI|N|
C1519508|Ann Arbor Classification: Stage II: Involvement of two or more lymph node regions on the same side of the diaphragm (II); or localized involvement of a single extralymphatic organ or site in association with regional lymph node involvement with or without involvement of other lymph node regions on the same side of the diaphragm (IIE).|NCI|N|
C1519509|Stage II NHL means involvement of two or more lymph node regions on the same side of the diaphragm (II) or localized involvement of a single associated extralymphatic organ or site and its regional lymph nodes with or without other lymph node regions on the same side of the diaphragm (IIE). Note: The number of lymph node regions involved may be indicated by a subscript (e.g., II3). (from PDQ)|NCI|N|
C1519557|Topoisomerase Interaction involves temporary non-covalent binding through intermolecular physical forces of attraction and spatial complementarity with enzymes that change the degree of supercoiling in DNA by cutting one or both strands. Type I topoisomerases cut only one strand of DNA, while type II topoisomerases cut both strands of DNA.|NCI|N|
C1519604|An account of all experiences related to the receipt of blood, WBC, platelets, and/or other blood components.|NCI|N|
C1519628|Any subcellular or molecular process involved in translocation of a biological entity, such as a macromolecule, from one site or compartment to another.|NCI|N|
C1519651|A chromosomal abnormality consisting of the presence of a third copy of chromosome 16 in somatic cells.|NCI|N|
C1519652|A chromosomal abnormality consisting of the presence of a third copy of chromosome 3 in somatic cells.|NCI|N|
C1519653|A chromosomal abnormality consisting of the presence of a third copy of chromosome 4 in somatic cells.|NCI|N|
C1519654|A chromosomal abnormality consisting of the presence of a third copy of chromosome 5 in somatic cells.|NCI|N|
C1519663|A rare, typically benign ovarian neoplasm composed of Sertoli cells. Patients may present with pseudoprecocity, menometrorrhagia, amenorrhea, hirsutism, and hoarseness. Rarely it may invade the ovarian stroma and extend beyond the ovary.|NCI|N|
C1519665|An event, process, or condition that supports, or results from, tumor development.|NCI|N|
C1519670|Proliferation of blood vessels in a tumor.|NCI|N|
C1519675|Any type of motility of a tumor cell that involves translocation of the cell, or cell body, from one site to another; distinct from forms of cell movement that involve only movement of cell processes (e.g., axons, microvilli, etc.). (NCI)|NCI|N|
C1519678|Growth of a tumor involving either an increase in size of a continuous tumor tissue mass or translocation of tumor cells to secondary sites. (NCI)|NCI|N|
C1519680|Mechanisms that prevent immune detection and elimination of tumor cells|NCI|N|
C1519683|The loss of a fluid from a tumor. This can occur under normal circumstances or during biopsy or other surgical procedure.|NCI|N|
C1519689|The second step in two-stage carcinogenesis: the conversion of an initiated (premalignant) cell to malignancy.|NCI|N|
C1519692|Tumor suppression involves inhibition of tumor cell growth, proliferation, malignancy, or metastasis.|NCI|N|
C1519695|A rare neoplasm arising from specialized prostatic stroma. This category includes prostatic stromal proliferations of uncertain malignant potential and prostatic stromal sarcomas.|NCI|N|
C1519696|A sex cord-stromal tumor that arises from the ovary or the testis. Representative examples include fibroma, fibrosarcoma, and thecoma.|NCI|N|
C1519697|A measurement of the tumor-producing/cancer cell-producing potency of an agent. The carcinogenicity value is usually expressed as milligrams of agent administered per tumor developed.|NCI|N|
C1519702|An autosomal dominant hereditary neoplastic syndrome caused by mutations in the PMS2, MLH1, or MSH2 genes. It is characterized by the presence of glioblastoma and the absence of familiar adenomatous polyposis. Patients often develop hereditary nonpolyposis colorectal carcinoma.|NCI|N|
C1519703|An autosomal dominant hereditary neoplastic syndrome caused by mutations in the APC gene. It is characterized by the presence of medulloblastoma and familiar adenomatous polyposis.|NCI|N|
C1519706|A renal papillary adenoma which is characterized by basophilic cells with scant amount of cytoplasm.|NCI|N|
C1519710|A renal papillary adenoma which is characterized by eosinophilic cells.|NCI|N|
C1519711|A rare, primary immunodeficiency. It is caused by a currently undetermined defect in the Fas-induced apoptosis pathway. No mutations in Fas, FASLG or CASP10 are detectable. Disruption of Fas-induced apoptosis impairs lymphocyte homeostasis and immune tolerance. Characteristic laboratory findings include an increase in circulating, double-negative (CD4-/CD8-) T cells in the setting of immune-mediated anemia, thrombocytopenia and neutropenia. Clinical signs present in childhood include fatigue, pallor, bruising, hepatosplenomegaly and chronic, non-malignant, non-infectious lymphadenopathy. The clinical course is influenced by a strong association with other autoimmune disorders and an increased risk for developing Hodgkin and non-Hodgkin lymphoma.|NCI|N|
C1519714|A classification of primary endometrial adenocarcinomas that refers to clear cell adenocarcinoma, serous adenocarcinoma, and serous endometrial intraepithelial carcinoma.|NCI|N|
C1519719|A classification of primary endometrial adenocarcinomas that refers to endometrioid adenocarcinoma and mucinous adenocarcinoma.|NCI|N|
C1519721|An ovarian thecoma characterized by the presence of cells with uniform nuclei and abundant vacuolated cytoplasm. Mitoses are not present or, when present, are rare.|NCI|N|
C1519726|Tyrosine phosphorylation involves the introduction of a phosphoryl group into a compound through the formation of an ester bond between a tyrosine residue in the compound and a phosphorus moiety.|NCI|N|
C1519745|The process by which the genetic information of an organism is changed in a stable manner by the radiation in the UV spectrum.|NCI|N|
C1519750|Ubiquitinated Protein Degradation involves the regulated covalent conjugation of one or more ubiquitin residues to one or more sites on a protein that acts as a tag by which the protein-transport machinery ferries the targeted ubiquinated protein to the proteasome for proteolytic destruction.|NCI|N|
C1519751|Ubiquitin is a family of widely distributed proteins found in all eukaryotes that contain a highly conserved sequence of 76 amino acids identical in organisms from humans to insects. It participates in diverse cellular functions by conjugation to other proteins through its carboxy terminus. Ubiquitination is associated with many highly regulated biological events including protein degradation, chromatin remodelling, heat shock, cell cycle progression, differentiation, antigen presentation, retrovirus assembly, apoptosis, signal transduction, transcriptional activation, biological clocks, receptor down regulation, and endocytosis. Protein ubiquitination regulates the half-lives of many proteins by targeting them for degradation. Newly discovered families of ubiquitination and deubiquitination enzymes participate in these processes. Ubiquitination enzymes may provide new therapeutic targets and ways of intervention in many human diseases.|NCI|N|
C1519758|Interchanges of genetic material among different chromosomes following the breaking off of pieces of chromosomes such that the total chromosome composition does not contain all of the genetic material.|NCI|N|
C1519766|Passage or transfer, as of a disease, to a recipient individual due to miscellaneous or not otherwise specified circumstances. (NCI)|NCI|N|
C1519782|A high grade undifferentiated sarcoma that arises from the endocervix.|NCI|N|
C1519787|A neuroblastoma characterized by the absence of differentiating neuroblasts.|NCI|N|
C1519789|Any adverse event associated with a medical product or procedure that has not been previously observed, whether or not the event was anticipated because of the pharmacologic properties of the study agent or the nature of the medical procedure. This includes events that are more serious than expected or occur more frequently than expected, particularly, any adverse experience, the nature, severity or frequency of which is not consistent with the product label, or with the current investigator brochure for investigational agent; or with the risk information described in the investigational plan or protocol or consent form.|NCI|N|
C1519823|A rare benign neoplasm that arises from the ureter and is characterized by the presence of a papillary growth with a central fibrovascular core. The latter is lined by normal urothelium.|NCI|N|
C1519826|A rare benign neoplasm that arises from the urethra and is characterized by the presence of a papillary growth with a central fibrovascular core. The latter is lined by normal urothelium.|NCI|N|
C1519827|A verrucous carcinoma arising from the urethra.|NCI|N|
C1519828|An epithelial neoplasm of the urethra, which is morphologically characterized by the presence of a villous architectural pattern.|NCI|N|
C1519840|A benign or malignant neoplasm that arises from the urothelial lining of the urinary tract (bladder, renal pelvis, ureter, or urethra).|NCI|N|
C1519844|An adenomyoma that arises from the uterine corpus and is characterized by the presence of marked glandular architectural complexity. It may recur following excision.|NCI|N|
C1519845|A morphologic variant of leiomyoma arising from the uterine corpus. It is characterized by a dense cellular infiltrate composed of spindle or round cells with scant cytoplasm and a less obvious interlacing fascicle pattern.|NCI|N|
C1519847|A rare morphologic variant of uterine corpus leiomyoma. Macroscopically, it is characterized by large, fungating, and multinodular neoplasm masses arising from the uterine corpus, and extending into the broad ligament or the peritoneal cavity. Microscopically, it shows neoplastic smooth muscle cells infiltrating the myometrium. The neoplastic cells are arranged in a micronodular pattern. Hydropic changes and increased vascularity are also present.|NCI|N|
C1519849|A uterine corpus sarcoma originating from the endometrial stroma. It is further subdivided into low grade and high grade endometrial stromal sarcoma.|NCI|N|
C1519850|A morphologic variant of uterine corpus leiomyoma characterized by the presence of round or polygonal epithelioid smooth muscle cells forming clusters.|NCI|N|
C1519851|A morphologic variant of leiomyosarcoma arising from the uterine corpus. It is characterized by the presence of epithelioid round cells with eosinophilic to clear cytoplasm.|NCI|N|
C1519852|A morphologic variant of uterine corpus leiomyoma characterized by zones of hemorrhagic infarction surrounded by hypercellular areas. It usually develops in women of childbearing years, particularly those that are pregnant, post-partum, or taking oral contraceptives.|NCI|N|
C1519853|A morphologic variant of uterine corpus leiomyoma characterized by significant cytologic atypia. The atypical cells are large with pleomophic hyperchromatic nuclei.|NCI|N|
C1519854|A morphologic variant of uterine corpus leiomyoma characterized by an increased number of mitoses (up to 19 mitoses per 10 high-powered fields).|NCI|N|
C1519855|An unusual condition characterized by the presence of numerous small benign smooth muscle neoplasms located throughout the body of the uterus.|NCI|N|
C1519856|A rare morphologic variant of uterine corpus leiomyoma characterized by the presence of scattered islands of mature adipocytes within the smooth muscle neoplasm.|NCI|N|
C1519857|A rare, indolent, invasive mesenchymal tumor that arises from the endometrial stroma. It is characterized by the presence of a plexiform vasculature, infrequent mitoses, and insignificant cytologic atypia. Late recurrences may occur.|NCI|N|
C1519858|A primary, benign or malignant neoplasm of the uterine corpus characterized by the presence of an epithelial and a mesenchymal component. Representative examples include adenomyoma, adenosarcoma, and carcinosarcoma.|NCI|N|
C1519859|A primary, usually low grade adenocarcinoma of the endometrium in which the majority of the malignant epithelial cells contain abundant intracytoplasmic mucin.|NCI|N|
C1519860|A morphologic variant of uterine corpus leiomyoma characterized by extensive myxoid degeneration of the neoplasm connective tissue stroma.|NCI|N|
C1519861|A morphologic variant of leiomyosarcoma arising from the uterus corpus. It is characterized by the presence of cellular pleomorphism, malignant cells with large nuclei, and a myxoid stroma.|NCI|N|
C1519862|A neoplasm with perivascular epithelioid cell differentiation arising from the uterine corpus wall.|NCI|N|
C1519863|A benign, intermediate, or malignant neoplasm that arises from the uterine corpus and is composed of neoplastic cells with smooth muscle differentiation.|NCI|N|
C1519864|A smooth muscle neoplasm that arises from the uterine corpus and cannot be reliably diagnosed as benign or malignant, because of the presence of ambiguous morphologic findings.|NCI|N|
C1519865|A benign or malignant mesenchymal neoplasm of the uterine corpus. Representative examples include leiomyoma, leiomyosarcoma, and endometrial stromal sarcoma.|NCI|N|
C1519866|A rare adenocarcinoma that arises from the uterine ligament.|MONDO|N|
C1519870|A benign, borderline, or malignant neoplasm that affects the broad or other uterine ligaments.|NCI|N|
C1519872|A rare serous adenocarcinoma that arises from the broad or other uterine ligaments.|NCI|N|
C1519885|A status indicating that an individual has received a vaccination.|NCI|N|
C1519906|Vacuolar Protein Sorting consists of subcellular and biochemical mechanisms involving cell membranes that govern the subcellular location of certain membrane-bound or -associated proteins.|NCI|N|
C1519911|A carcinoma that arises from the vagina and is characterized by the presence of nests of basaloid cells with focal glandular formations.|NCI|N|
C1519912|An adenoid cystic carcinoma that arises from the vagina. Myoepithelial cells are usually not present.|NCI|N|
C1519913|A glandular epithelial neoplasm that arises from the vagina and shows intestinal differentiation.|NCI|N|
C1519914|A malignant mixed epithelial and mesenchymal neoplasm that arises from the vagina and is characterized by the presence of a malignant mesenchymal component and a benign or atypical mullerian-type epithelial component.|NCI|N|
C1519915|A carcinoma that arises from the vagina and is characterized by the presence of malignant glandular and malignant squamous epithelial components.|NCI|N|
C1519916|A squamous cell carcinoma that arises from the vagina and is characterized by the presence of nests of malignant basaloid squamous cells with scant amounts of cytoplasm.|NCI|N|
C1519917|A neoplasm that arises from the vagina and is characterized by the proliferation of subepithelial benign dendritic melanocytes.|NCI|N|
C1519918|An aggressive mixed epithelial and mesenchymal neoplasm that arises from the vagina and is characterized by the presence of a malignant epithelial component and a malignant mesenchymal component.|NCI|N|
C1519919|A locally infiltrating, non-metastasizing vaginal angiomyxoma. It may recur following resection.|NCI|N|
C1519920|A rare adenocarcinoma that arises from the vagina with histologic features resembling the endometrioid adenocarcinoma of the endometrium.|NCI|N|
C1519921|A benign or malignant neoplasm that arises from the vagina and is characterized by the presence of neoplastic glandular epithelial cells. Representative examples include adenoma, endometrioid adenocarcinoma, and clear cell adenocarcinoma.|NCI|N|
C1519922|A squamous cell carcinoma that arises from the vagina and is characterized by the presence of keratin pearls. Intercellular bridges and cytoplasmic keratinization are usually present.|NCI|N|
C1519923|Vaginal adenocarcinoma that derives from Wolffian duct remnants and shows mesonephric differentiation.|NCI|N|
C1519924|A benign or malignant neoplasm that arises from the vagina and is characterized by the presence of epithelial and mesenchymal elements. This category includes benign mixed tumor, adenosarcoma, carcinosarcoma, and malignant mixed tumor resembling synovial sarcoma.|NCI|N|
C1519925|A rare adenocarcinoma that arises from the vagina with histologic features resembling cervical mucinous adenocarcinoma.|NCI|N|
C1519926|A benign papilloma that arises from the vagina in infants and young women.|NCI|N|
C1519927|A squamous cell carcinoma that arises from the vagina and is characterized by the presence of polygonal squamous cells. Intercellular bridges and cytoplasmic keratinization may be present, but keratin pearls are absent.|NCI|N|
C1519929|A rare small cell neuroendocrine carcinoma that arises from the vagina.|NCI|N|
C1519930|A benign or malignant mesenchymal neoplasm that arises from the vagina. Representative examples include leiomyoma, rhabdomyoma, leiomyosarcoma, endometrioid stromal sarcoma, and botryoid-type embryonal rhabdomyosarcoma.|NCI|N|
C1519931|A benign, precancerous, or malignant neoplasm that arises from the squamous epithelium of the vagina.|NCI|N|
C1519933|An adenoma that arises from the vagina and is characterized by a tubulovillous architectural pattern.|NCI|N|
C1519934|A carcinoma that arises from the vagina and is characterized by the lack of specific cellular differentiation.|NCI|N|
C1519935|A high grade infiltrating sarcoma that arises from the vagina. It is characterized by the presence of malignant small spindle cells with scant cytoplasm.|NCI|N|
C1519936|An adenoma that arises from the vagina and is characterized by a villous architectural pattern.|NCI|N|
C1519937|A squamous cell carcinoma that arises from the vagina and is characterized by a papillary growth pattern, hyperkeratosis, and koilocytosis.|NCI|N|
C1519982|A benign neoplastic process characterized by the presence of multiple vestibular papillomas in the vulva.|NCI|N|
C1520002|A change in the rate of division or growth of cells that have undergone cellular transformation, which is usually induced either by infection with or genomic integration of a transforming virus.|NCI|N|
C1520005|A disease state resulting from virus infection.|NCI|N|
C1520023|A function, activity, or process involving the physical interaction between a virus or viral particle and a cell membrane.|NCI|N|
C1520024|Virus-Induced Membrane Fusion involves merging of an envelope type virus particle with a cellular lipid bilayer membrane, often occurring in the course of viral cell infection.|NCI|N|
C1520060|A finding indicating a deficiency or excess in absorption or assimilation of one or more vitamins.|NCI|N|
C1520068|A benign nevus that arises from the vulva during childhood and grows with increasing age.|NCI|N|
C1520069|An alveolar soft part sarcoma arising from the vulva.|NCI|N|
C1520070|A deep or superficial angiomyxoma of the vulva. It may recur following resection.|NCI|N|
C1520072|A small, well circumscribed melanocytic neoplasm that arises from the vulva and affects women in their reproductive years. It is characterized by the presence of junctional nests of melanocytes. Some of the superficial melanocytes show atypia. During pregnancy the atypical melanocytic changes may appear more prominent. This neoplasm is not associated with the presence of dysplastic nevi in other anatomic areas.|NCI|N|
C1520074|A benign nevus that arises from the vulva and is characterized by the presence of heavily pigmented dendritic melanocytes exclusively in the dermis.|NCI|N|
C1520075|A benign neoplasm arising from the fibrous tissue of the vulva. It is characterized by the presence of spindle-shaped fibroblasts, numerous dilated vascular channels, and increased cellularity.|NCI|N|
C1520076|A vulvar sweat gland carcinoma characterized by the presence of clear cells.|NCI|N|
C1520077|A benign nevus that arises from the vulva and is present at birth.|NCI|N|
C1520078|A locally infiltrating, non-metastasizing vulvar angiomyxoma. It may recur following resection.|NCI|N|
C1520079|A rare, elevated and pigmented, compound or junctional nevus that arises from the vulva. It affects women in their reproductive years and may be associated with the presence of dysplastic nevi in other anatomic areas. It is characterized by the presence of epithelioid or spindle-shaped melanocytes exhibiting nuclear pleomorphism and prominent nucleoli.|NCI|N|
C1520081|A porocarcinoma that arises from the sweat glands in the vulva.|NCI|N|
C1520082|A benign or malignant neoplasm that arises from the vulva and is composed of glandular epithelial cells. Representative examples include adenoma of the minor vestibular glands, Bartholin gland adenoma, and Bartholin gland adenocarcinoma.|NCI|N|
C1520083|A usually benign granular cell tumor that arises from the vulva.|NCI|N|
C1520084|Seborrheic keratosis that arises from follicular structures in the vulva. It is characterized by the presence of prominent squamous eddies.|NCI|N|
C1520087|A benign smooth muscle neoplasm arising from the vulva. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.|NCI|N|
C1520090|A neoplasm that originates from melanocytes and arises from the vulva. This category includes congenital and acquired melanocytic nevus, blue nevus, dysplastic melanocytic nevus, atypical melanocytic nevus, genital type, and melanoma.|NCI|N|
C1520091|A benign neoplasm that arises from sweat glands in the vulva. It is characterized by the presence of lobules composed of epithelial cells with clear cytoplasm.|NCI|N|
C1520092|A squamous cell carcinoma that arises from the vulva and is characterized by the absence of keratin pearls.|NCI|N|
C1520093|An epithelioid sarcoma of the proximal type that arises from the vulva.|NCI|N|
C1520094|A carcinoma that arises from the vulva. It is characterized by the presence of malignant basaloid glandular epithelial cells that resemble sebaceous epithelium and are arranged in cords and nests.|NCI|N|
C1520095|A benign or malignant mesenchymal neoplasm of the vulva. Representative examples include leiomyoma, cellular angiofibroma, angiomyxoma, leiomyosarcoma, liposarcoma, and childhood botryoid-type embryonal rhabdomyosarcoma.|NCI|N|
C1520096|An aggressive squamous cell carcinoma that arises from the vulva and is characterized by the prominence of malignant giant cells.|NCI|N|
C1520097|A benign, precancerous, or malignant neoplasm that arises from the squamous epithelium of the vulva. Representative examples include vestibular papilloma, intraepithelial neoplasia, and squamous cell carcinoma.|NCI|N|
C1520098|A vulvar angiomyxoma arising from the dermis or subcutaneous tissues. It may recur following resection.|NCI|N|
C1520099|A benign neoplasm that arises from eccrine ducts in the vulva and is characterized by the presence of tubules and cysts which are lined by epithelial cells in the densely fibrotic dermis.|NCI|N|
C1520100|A benign neoplasm that arises from the vulva and is characterized by the presence of nests of monomorphic basaloid cells forming small cysts that contain keratin.|NCI|N|
C1520101|A benign or malignant vulvar neoplasm with differentiating characteristics towards sweat or sebaceous glands or hair follicles. Representative examples include trichoepithelioma, syringoma, and eccrine adenocarcinoma.|NCI|N|
C1520102|A squamous cell carcinoma that arises from the vulva and is characterized by the presence of a warty surface and cellular changes that are caused by human papillomavirus infection.|NCI|N|
C1520113|A complex signaling pathway whose name is derived from the DROSOPHILA Wg gene, and the vertebrate INT gene. The signaling pathway is initiated by the binding of WNT PROTEINS to cell surface WNT RECEPTORS which interact with the AXIN SIGNALING COMPLEX and an array of second messengers that influence the actions of BETA CATENIN.|MSH|N|
C1520115|A change in the nucleotide sequence of the WT1 gene that either inhibits expression or results in the translation of an inactive Wilms tumor protein.|NCI|N|
C1520120|This effect refers to the high cellular levels of lactic acid in tumor cells, and is named after Otto Warburg who worked on photosynthesis. Tumor cells use excessive glucose in their rapid growth, and lactic acid is a product of the glycolytic pathway. This process is not inhibited by oxygen, therefore, it is also called aerobic glycolysis.|NCI|N|
C1520133|An ovarian steroid cell tumor not otherwise specified, and characterized by the absence of nuclear atypia, mitotic figures, necrosis, and hemorrhage.|NCI|N|
C1520159|An adnexal epithelial neoplasm of Wolffian (mesonephric) origin. It predominantly affects the broad ligament and presents as a unilateral adnexal mass. Most tumors behave in a benign fashion.|NCI|N|
C1521461|A cytogenic abnormality that refers to loss of all or part of the long arm of chromosome 5 (5q). It is associated with the development of myelodysplastic syndrome with isolated deletion (5q), acute myeloid leukemia with multilineage dysplasia, and acute myeloid leukemia with myelodysplasia-related changes.|NCI|N|
C1521726|A finding indicating that there is a decrease in the size and the extent of tissue involvement by a malignant tumor in a patient.|NCI|N|
C1521754|The covalent chemical or post-translational biochemical addition of an acetyl group(s) to a peptide or protein. (NCI)|NCI|N|
C1521845|Antiquated term describing follicular (nodular) or diffuse non-Hodgkin lymphomas that are composed of a mixture of large cells: large cleaved cells, with irregular nuclei without visible nucleoli; and large non-cleaved cells (centroblasts), having a rounder nucleus with two to three small, peripherally placed nucleoli and a small amount of basophilic cytoplasm. The follicular variants represent mature B-cell lymphomas, whereas the diffuse variants can be either mature B- or mature T-cell lymphomas.|NCI|N|
C1521846|Allowing establishment of infection or acceptance of graft material.|NCI|N|
C1521899|Nodular sclerosis Hodgkin lymphoma in which at least 75% of the tumor nodules contain scattered Reed-Sternberg cells. The background cellular infiltrate is lymphocytic, mixed, or fibrohistiocytic.|NCI|N|
C1521918|Intraurothelial neoplasia characterized by dysplastic changes which are not severe enough to warrant the diagnosis of bladder carcinoma in situ.|NCI|N|
C1522020|A molecular genetic abnormality indicating the presence of multiple copies of the MYCN gene.|NCI|N|
C1522058|Ischemic tissue necrosis characterized by the preservation of the architectural pattern and a necrotic ghost appearance of the cells.|NCI|N|
C1522135|An abnormally increased magnesium concentration in the blood.|HPO|N|
C1522290|A binding interaction that results in localization of the ligand.|NCI|N|
C1522363|Thyroid gland carcinoma that arises from parafollicular cells (C cells) and occurs in a mouse.|NCI|N|
C1522378|A spectrum of disorders characterized by clonal expansions of the peripheral blood LYMPHOCYTE populations known as large granular lymphocytes which contain abundant cytoplasm and azurophilic granules. Subtypes develop from either CD3-negative NATURAL KILLER CELLS or CD3-positive T-CELLS. The clinical course of both subtypes can vary from spontaneous regression to progressive, malignant disease.|MSH|N|
C1524032|Studies which look at the causal relationship between depression and suicide.|NCI|N|
C1524056|A breast hamartoma characterized by the presence of adipose tissue that contains entrapped glands.|NCI|N|
C1527118|The action of enzymes, regulators, chaperones etc.|NCI|N|
C1527161|An aneurysm caused by physical injury.|NCI|N|
C1527168|A genetic syndrome which occurs in females. It is caused by the inheritance of only one complete X chromosome (45, X). Clinical signs of the symmetrical form are identical to those of Turner syndrome and include bilateral webbing of the neck and edema of the extremities. Clinical characteristics include decreased stature and under-developed sexual organs. Patients usually have a normal life expectancy.|NCI|N|
C1527225|A non-neoplastic or neoplastic disorder which results from exposure to radiation. Examples of non-neoplastic disorders include dermatitis, enteritis, stomatitis, pneumonitis, and cerebritis. Examples of neoplastic disorders include myelodysplastic syndromes, leukemias, and sarcomas.|NCI|N|
C1527231|A form of the peroxisomal disease X-linked adrenoleukodystrophy, characterized by progressive myelopathy and peripheral neuropathy, and often associated with peripheral adrenal insufficiency in males. Onset is typically in adulthood.|ORDO|N|
C1527284|Dentin dysplasia type II (DTDP2) is a defect of dentin formation in which the clinical appearance of the secondary teeth is normal, but the primary teeth may appear opalescent, similar to teeth affected by dentinogenesis imperfecta. The roots of the teeth are of normal shape and morphologic character. The pulp chambers and root canals of the anterior teeth and the premolars are shaped like thistle tubes because of the radicular extension of the pulp chamber. Most teeth show accumulations of pulp stones in these unusually shaped pulp chambers (summary by Kalk et al., 1998).
Also see dentin dysplasia type I (DTDP1; 125400).|OMIM|N|
C1527287|A tropical infectious disease found mainly in Africa that is caused by the filarial parasite ACANTHOCHEILONEMA. Symptoms include skin rashes, abdominal, chest, muscle, and joint pains, neurologic disorders, skin lumps, and elevated levels of white blood cells. The parasite is transmitted through the bite of small flies.|MSH|N|
C1527298|DYSENTERY caused by gram-negative rod-shaped enteric bacteria (ENTEROBACTERIACEAE), most often by the genus SHIGELLA. Shigella dysentery, Shigellosis, is classified into subgroups according to syndrome severity and the infectious species. Group A: SHIGELLA DYSENTERIAE (severest); Group B: SHIGELLA FLEXNERI; Group C: SHIGELLA BOYDII; and Group D: SHIGELLA SONNEI (mildest).|MSH|N|
C1527304|A pathological immune process generally directed towards a foreign antigen, which results in tissue injury, which is usually transient. It is the realization of the allergic disposition. It is most often applied to type I hypersensitivity but other hypersensitivity types especially type IV (e.g. allergic contact dermatitis) may be involved.|SNOMEDCT_US|N|
C1527310|An optical condition in the eye where there is an error of refraction of light rays on the retina.|NCI|N|
C1527311|Increased intracellular or extracellular fluid in brain tissue. Cytotoxic brain edema (swelling due to increased intracellular fluid) is indicative of a disturbance in cell metabolism, and is commonly associated with hypoxic or ischemic injuries (see HYPOXIA, BRAIN). An increase in extracellular fluid may be caused by increased brain capillary permeability (vasogenic edema), an osmotic gradient, local blockages in interstitial fluid pathways, or by obstruction of CSF flow (e.g., obstructive HYDROCEPHALUS). (From Childs Nerv Syst 1992 Sep; 8(6):301-6)|MSH|N|
C1527330|Deficiency of PYRIDOXINE, one of the VITAMIN B 6 compounds. Although pyridoxine and Vitamin B 6 are still frequently used as synonyms, especially by medical researchers, this practice is erroneous and sometimes misleading (EE Snell; Ann NY Acad Sci, vol 585 pg 1, 1990).|MSH|N|
C1527336|Sjogren syndrome is an autoimmune disease that mainly affects the exocrine glands. It is clinically characterized by keratoconjunctivitis sicca and xerostomia (Goransson et al., 2006).
See 200400 for association of Sjogren syndrome with achalasia in sisters.|OMIM|N|
C1527338|Cerebral amyloid angiopathy (CAA), defined by the deposition of congophilic material in the vessels of the cortex and leptomeninges, is a major cause of intracerebral hemorrhage in the elderly (Vinters, 1987, Greenberg, 1998). Palsdottir et al. (1988) referred to the disorder in Icelandic patients as hereditary cystatin C amyloid angiopathy (HCCAA).|OMIM|N|
C1527344|Difficulty in speaking due to a physical disorder of the mouth, tongue, throat, or vocal cords. Associated with a known physical or neurological cause.|HPO|N|
C1527348|A reduction in brain oxygen supply due to ANOXEMIA (a reduced amount of oxygen being carried in the blood by HEMOGLOBIN), or to a restriction of the blood supply to the brain, or both. Severe hypoxia is referred to as anoxia and is a relatively common cause of injury to the central nervous system. Prolonged brain anoxia may lead to BRAIN DEATH or a PERSISTENT VEGETATIVE STATE. Histologically, this condition is characterized by neuronal loss which is most prominent in the HIPPOCAMPUS; GLOBUS PALLIDUS; CEREBELLUM; and inferior olives.|MSH|N|
C1527349|A breast carcinoma arising from the ducts. While ductal carcinomas can arise at other sites, this term is universally used to refer to carcinomas of the breast. Ductal carcinomas account for about two thirds of all breast cancers. Two types of ductal carcinomas have been described: ductal carcinoma in situ (DCIS) and invasive breast carcinoma of no special type. The latter often spreads to the axillary lymph nodes and other anatomic sites. The two forms of ductal carcinoma often coexist.|NCI|N|
C1527358|A nonimmunologic, chemically induced type of photosensitivity.|NCI|N|
C1527366|A sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that is usually more sustained than a myoclonic movement but not as sustained as a tonic seizure. Limited forms may occur|HPO|N|
C1527368|VINCENT INFECTION where the lesions spread to the SOFT PALATE and OROPHARYNX.|MSH|N|
C1527383|Isolated patches of hardened skin (scleroderma).|HPO|N|
C1527388|Annular constrictions around the digits, limbs, or trunk, occurring congenitally (sometimes causing intrauterine autoamputation) and also associated with a wide variety of disorders. Constrictive amniotic bands are the result of primary amniotic rupture, which can lead to entanglement of fetal tissue (especially limbs) in fibrous amniotic strands.|HPO|N|
C1527390|A benign or malignant neoplasm that arises from or metastasizes to structures within the cranium. This includes meningeal and other tumors that occur in the spaces that surround the brain, and neoplasms of the brain.|NCI|N|
C1527401|A hypoglycemic reaction to overdosage of insulin, a skipped meal, or strenuous exercise in an insulin-dependent diabetic.|NCI|N|
C1527405|Peripheral blood red cell count above the normal range|SNOMEDCT_US|N|
C1527407|The presence of eosinophils in lung tissue, generally as detected by tissue biopsy, with or without blood eosinophilia.|HPO|N|
C1527410|metabolic bone disease due to increased bone resorption resulting from the acidosis and secondary hyperparathyroidism of renal insufficiency.|CSP|N|
C1527424|Cervical squamous intraepithelial neoplasia characterized by the presence of maturation in the upper two-thirds of the squamous epithelium and mild nuclear atypia which is present in all epithelial layers. Mitotic figures are present in the basal third of the epithelium.|NCI|N|
C1527427|A rare adenocarcinoma arising from the Skene gland. It presents as a periurethral or anterior vaginal submucosal mass. It is characterized by morphological features similar to prostate adenocarcinoma.|NCI|N|
C1527429|A laboratory test result indicating abnormally high concentration of non-protein nitrogen in the blood.|NCI|N|
C1531582|Compromise of blood supply to the anterior segment of the eye.|NCI|N|
C1531608|A plasma cell myeloma lacking clinical manifestations and organ impairment.|NCI|N|
C1531647|Abnormal enlargement of the cerebral ventricles.|NCI|N|
C1531651|A diagnostic reflex elicited by stimulation of the skin over the surface of the lateral malleolus of the foot. The Chaddock refelx is present if there is extension of one or more or all of the toes with or without fanning of them when the external inframalleolar skin is stimulated. The Chaddock sign, similar to the Babinski sign, is taken to be an indication of disease of the spinocortical (pyramidal) tract.|HPO|N|
C1531674|A pattern of reliance on religious beliefs and/or participation in rituals of a particular faith tradition, which can be strengthened.|NANDA-I|N|
C1531694|Acquired fructose intolerance is a condition in which the body can not properly absorb the sugar, fructose. As a result, affected people may experience gastrointestinal symptoms, such as gas, abdominal pain, bloating and/or diarrhea, depending on the quantity of fructose consumed and the presence of other sugars ingested with it. Gastrointestinal symptoms related to acquired fructose intolerance appear to be more common in people who have an underlying functional bowel disorder such as irritable bowel syndrome. The underlying cause of the condition is poorly understood. It is distinct from the rare, genetic form of fructose intolerance (called hereditary fructose intolerance), which usually develops earlier in life and often affects more than one family member. Acquired fructose intolerance is generally managed with dietary modifications.|MONDO|N|
C1531719|The atherogenic lipoprotein phenotype (ALP) is a common heritable trait characterized by a preponderance of small, dense low density lipoprotein (LDL) particles (subclass pattern B), increased levels of triglyceride-rich lipoproteins, reduction in high density lipoprotein, and a 3-fold increased risk of myocardial infarction (summary by Nishina et al., 1992).
The so-called atherogenic lipoprotein phenotype was shown by Austin et al. (1988) to be independently associated with an increased risk for coronary artery disease. Allayee et al. (1998) concluded, furthermore, that there is a genetically based association between familial combined hyperlipidemia (FCHL; 144250) and small, dense LDL particles and that the genetic determinants for LDL particle size are shared, at least in part, among FCHL families and the more general population at risk for coronary artery disease. Juo et al. (1998) concluded from a bivariate segregation analysis of small, dense LDL particles and elevated apolipoprotein B levels (APOB; 107730), which are commonly found together in members of FCHL families, that the 2 traits share a common major gene plus individual polygenic components. The common major gene was estimated to explain 37% of the variance of adjusted LDL particle size and 23% of the variance of adjusted apoB levels.|OMIM|N|
C1531773|The Currarino syndrome is an autosomal dominant form of hereditary sacral dysgenesis that classically consists of the triad of sacral malformation, presacral mass, and anorectal malformations. However, other features include neonatal-onset bowel obstruction, chronic constipation, recurrent perianal sepsis, renal/urinary tract anomalies, female internal genital anomalies, tethered spinal cord, and anterior meningocele. There is marked inter- and intrafamilial variability, and up to 33% of patients are asymptomatic (summary by Wang et al., 2006).|OMIM|N|
C1531861|A change in the shape of the corneal surface presenting as abnormal radial symmetry.|NCI|N|
C1531935|A hamartoma of lymph vessels that usually presents in childhood. It tends to increase in size with head-down posture and with the Valsalva maneuver. Superficial lesions are visible as transilluminable cystic spaces of the lid or conjunctiva that may also contain blood. Deep lesions may cause gradual proptosis or present acutely with orbital pain and reduced vision due to hemorrhage.|HPO|N|
C1532094|Rabies with paralytic features resembling axonal GUILLAIN-BARRE SYNDROME in some human cases.|MSH|N|
C1532229|A rare viral disease characterized by fever, malaise, lymphadenopathy, and a maculopapular exanthema spreading from the site of infection to other regions of the body. The skin lesions eventually dry out and may leave behind scars. The most relevant orthopox species for human disease after the eradication of the variola virus, which was responsible for smallpox, are the monkeypox virus and the cowpox virus. Infections with these viruses typically take a benign course.|ORDO|N|
C1532253|A type of lifestyle that lacks physical exercise, characterized by sitting, reading, watching television or using a computer for much of the day without vigorous physical exertion.|NCI|N|
C1532320|A history of a first-degree family member with prostate cancer.|NCI|N|
C1532322|Infectious condition of the internal eye.|MSH|N|
C1532393|A rare non-encapsulated and poorly circumscribed tumor that usually arises from the posterior neck. It is seen more frequently in men and is characterized by the presence of thick collagen fibers. It may recur but does not metastasize.|NCI|N|
C1532533|Inflammation of the lining of the ocular cavities, which results from a fungal infection.|NCI|N|
C1532715|A finding of multiple myeloma in which the kappa light chain of the immunoglobulin is defective.|NCI|N|
C1532782|A form of drug-resistant tuberculosis that is resisant to rifampicin with or without resistance to other antitubercular medications.|MONDO|N|
C1532837|Dorsiflexion of the big toe, sometimes accompanied by fanning of the other toes, elicited by stroking along the medial side of the tibia (the normal response would be no movement of the big toe).|HPO|N|
C1532959|A group of idiopathic multifocal posterior uveitis syndromes involving the CHOROID; RETINAL PIGMENT EPITHELIUM; and RETINA. They are characterized by multiple lesions of hypoautofluorescent dots in the FUNDUS OCULI and reduced VISUAL ACUITY. Several entities including BIRDSHOT CHORIORETINOPATHY are HLA-A ANTIGENS serotype A29 positive.|MSH|N|
C1533041|Primary congenital glaucoma (PCG) is characterized by elevated intraocular pressure (IOP), enlargement of the globe (buphthalmos), edema, and opacification of the cornea with rupture of Descemet's membrane (Haab's striae), thinning of the anterior sclera and iris atrophy, anomalously deep anterior chamber, and structurally normal posterior segment except for progressive glaucomatous optic atrophy. Symptoms include photophobia, blepharospasm, and excessive tearing. Typically, the diagnosis is made in the first year of life. Depending on when treatment is instituted, visual acuity may be reduced and/or visual fields may be restricted. In untreated individuals, blindness invariably occurs.|GeneReviews|N|
C1533060|Multifocal choroiditis (MFC) is an inflammatory disorder characterized by swelling of the eye (called uveitis) and multiple lesions in the choroid, a layer of blood vessels between the white of the eye and the retina. Symptoms include blurry vision, floaters, sensitivity to light, blind spots and mild eye discomfort. Though the cause is unknown, multifocal choroiditis is seen most frequently in women ages 20 to 60, and usually affects both eyes. MFC is generally treated with steroid medication that can be taken orally or injected into the eye. Multifocal choroiditis is a chronic condition, thus symptoms may return or worsen even after successful treatment.|MONDO|N|
C1533174|Acute myeloid leukemia characterized by the presence of abnormal bone marrow eosinophils and the characteristic cytogenetic abnormality inv(16)(p13.1q22) which results in the expression of the fusion protein CBFB-MYH11.|NCI|N|
C1533217|Addiction to methamphetamine.|HPO|N|
C1533592|A paraganglioma that metastasizes to regional or distant anatomic sites. Extraadrenal paragangliomas have a higher tendency to metastasize, as compared to pheochromocytomas. Common sites of metastasis include the lymph nodes, lungs, bones, and liver.|NCI|N|
C1533649|A benign vascular lesion characterized by the presence of a complex network of communicating arterial and venous vascular structures in the kidney.|NCI|N|
C1533650|Failure of parents or caretakers to provide basic care and emotional support necessary for normal development.|PSY|N|
C1533659|An imperfection if the retina of the eye in association with detachment of the retina from its blood supply.|NCI|N|
C1533847|A disease involving the skeletal muscle tissue.|MONDO|N|
C1534864|Decreased number of granulocyte precursors in the bone marrow.|HPO|N|
C1534903|Arteriosclerosis that is not localized.|NCI|N|
C1535893|A condition characterized by development of symptoms while standing. It is an autonomic nervous system disorder and the symptoms are relieved once the person sits back down. Symptoms include heart palpitations, sweating, anxiety, lightheadedness, hyperpnea, anxiety, and blurred vision.|NCI|N|
C1535916|A reduction in the strength of the muscles of the pelvic floor.|NCI|N|
C1535926|Neurodevelopmental disorder is a behavioral and cognitive disorder with onset during the developmental period that involves impaired or aberrant development of intellectual, motor, or social functions.|SNOMEDCT_US|N|
C1535939|An opportunistic disease caused by invasion of unicellular fungus Pneumocystis jirovecii. Transmission of P. jirovecii cysts takes place through the airborne route, and usually, its presence in lungs is asymptomatic. However, people with impaired immunity, especially those with CD4+ T cell count below 200/microliter, are still at risk of the development of Pneumocystis pneumonia due to P. jirovecii invasion. Symptoms induced by this disease are not specific|HPO|N|
C1535942|A rare, endocrine disease characterized by autoimmune thyroid disease associated with at least one other autoimmune disease, such as type I diabetes mellitus, chronic atrophic gastritis, pernicious anemia, vitiligo, alopecia, or myasthenia gravis, but excluding Addison disease.|ORDO|N|
C1535947|The usual amount of blood that is forced from the heart ventricle to produce cardiac output. Quantitatively, the ejection fraction is considered between 50% to 70%.|NCI|N|
C1535950|Inflammation of the alimentary part of the gastrointestinal system.|HPO|N|
C1535978|Increased plasma concentrations of chylomicrons, the large lipid droplet (up to 100 mm in diameter) of reprocessed lipid synthesized in epithelial cells of the small intestine and containing triacylglycerols, cholesterol esters, and several apolipoproteins.|HPO|N|
C1535985|Osteomyelitis resulting from an infection with Staphylococcus.|NCI|N|
C1535994|Rupture of the umbilical cord during labor and delivery.|NCI|N|
C1536085|Sharply demarcated area of partial or complete depigmentation of the fundus reflecting atrophy of the retinal pigment epithelium with associated retinal photoreceptor loss. The margins of the de-pigmented area are usually scalloped and the large choroidal vessels are visible through the atrophic retinal pigment epithelium.|HPO|N|
C1536220|A clinical syndrome defined by MYOCARDIAL ISCHEMIA symptoms; persistent elevation in the ST segments of the ELECTROCARDIOGRAM; and release of BIOMARKERS of myocardial NECROSIS (e.g., elevated TROPONIN levels). ST segment elevation in the ECG is often used in determining the treatment protocol (see also NON-ST ELEVATION MYOCARDIAL INFARCTION).|MSH|N|
C1536251|Problem associated with the failure to achieve effective and consistent depolarization of the heart resulting from the electrical stimulus of the pacemaker.|NCI|N|
C1536451|A hereditary macular disorder, usually presenting between the ages of 30-60, characterized by a large area of atrophy in the centre of the macula and the loss or absence of photoreceptors, retinal pigment epithelium and choriocapillaris in this area, resulting in a progressive decrease in visual acuity.|ORDO|N|
C1536454|An abnormal communication between the pharynx and another organ or anatomic site.|NCI|N|
C1536500|Alpha-methylacetoacetic aciduria, also known as 3-ketothiolase deficiency, is an inborn error of isoleucine catabolism characterized by urinary excretion of 2-methyl-3-hydroxybutyric acid, 2-methylacetoacetic acid, tiglylglycine, and 2-butanone.|OMIM|N|
C1536526|A cutaneous, usually multifocal lesion in the penis characterized by the presence of verrucous papules. It is caused by human papillomavirus infection. Morphologically there is bowenoid dysplasia present. Progression to invasive carcinoma is infrequent.|NCI|N|
C1536561|A schwannoma that is characterized by degenerative changes such as hyalinization, hemorrhage, calcification and cystic change.|NCI|N|
C1536744|An ICD encounter due to exposure to radiation.|NCI|N|
C1537102|A benign neoplasm that arises from the ciliated respiratory mucosa that lines the nasal cavity or paranasal sinuses. It results from the invagination and proliferation of epithelial cells in the underlying stroma. Clinical manifestations include nasal obstruction, epistaxis, and anosmia. It has the tendency to recur and extend to adjacent structures. Inverted papillomas are occasionally associated with the development or presence of carcinomas, usually squamous cell carcinomas.|NCI|N|
C1537236|Medical device failure or malfunction associated with device functions, including any deviations from documented specifications, requirements, and intended uses.|NCI|N|
C1540912|Hypereosinophilic syndrome (HES) constitutes a rare and heterogeneous group of disorders, defined as persistent and marked blood eosinophilia and/or tissue eosinophilia associated with a wide range of clinical manifestations reflecting eosinophil-induced tissue/organ damage.|ORDO|N|
C1541260|Stage II: Involvement of two or more lymph node regions on the same side of the diaphragm (II) or localized involvement of a single associated extralymphatic organ or site and its regional lymph nodes with or without other lymph node regions on the same side of the diaphragm (IIE). Note: The number of lymph node regions involved may be indicated by a subscript (e.g., II3). (from PDQ)|NCI|N|
C1541263|Ann Arbor Classification: Stage I: Involvement of a single lymph node region (I); or localized involvement of a single extralymphatic organ or site in the absence of any lymph node involvement (IE).|NCI|N|
C1541264|Stage II: Involvement of two or more lymph node regions on the same side of the diaphragm (II) or localized involvement of a single associated extralymphatic organ or site and its regional lymph nodes with or without other lymph node regions on the same side of the diaphragm (IIE). Note: The number of lymph node regions involved may be indicated by a subscript (e.g., II3). (PDQ)|NCI|N|
C1541269|Ann Arbor Classification: Stage III: Involvement of lymph node regions on both sides of the diaphragm (III), which also may be accompanied by extralymphatic extension in association with adjacent lymph node involvement (IIIE) or by involvement of the spleen (IIIS) or both (IIIE,S).|NCI|N|
C1541270|Ann Arbor Classification: Stage IV: Diffuse or disseminated involvement of one or more extralymphatic organs, with or without associated lymph node involvement; or isolated extralymphatic organ involvement in the absence of adjacent regional lymph node involvement, but in conjunction with disease in distant site(s); or any involvement of the liver or bone marrow, lungs (other than by direct extension from another site), or cerebrospinal fluid.|NCI|N|
C1541273|The reemergence of marginal zone lymphoma after a period of remission.|NCI|N|
C1541289|Stage II: Involvement of two or more lymph node regions on the same side of the diaphragm (II) or localized involvement of a single associated extralymphatic organ or site and its regional lymph nodes with or without other lymph node regions on the same side of the diaphragm (IIE). Note: The number of lymph node regions involved may be indicated by a subscript (e.g., II3). (from PDQ)|NCI|N|
C1541316|A giant cell glioblastoma occurring in adults.|NCI|N|
C1541317|A gliosarcoma occurring in adults.|NCI|N|
C1541332|An acute myeloid leukemia with t(16;16)(p13.1;q22) occurring in adults.|NCI|N|
C1541334|An acute myeloid leukemia with t(9;11)(p21.3;q23.3); MLLT3-MLL occurring in adults.|NCI|N|
C1541446|Grade III lymphomatoid granulomatosis that occurs during childhood.|NCI|N|
C1541447|The reemergence of grade III lymphomatoid granulomatosis in childhood after a period of remission.|NCI|N|
C1541448|The reemergence of grade I lymphomatoid granulomatosis after a period of remission.|NCI|N|
C1541449|The reemergence of grade II lymphomatoid granulomatosis after a period of remission.|NCI|N|
C1541468|Grade III lymphomatoid granulomatosis that occurs in adulthood.|NCI|N|
C1541469|The reemergence of grade III lymphomatoid granulomatosis in adulthood after a period of remission.|NCI|N|
C1541566|An ependymal tumor of the central nervous system occurring in adults.|NCI|N|
C1541567|An oligodendroglial tumor of the central nervous system occurring in adults.|NCI|N|
C1541840|A group of malignant mast cell disorders including aggressive systemic mastocytosis, mast cell leukemia, mast cell sarcoma, and systemic mastocytosis with an associated hematological neoplasm. Individuals with advanced systemic mastocytosis have a reduced life expectancy, with median survival measured in months to years.|NCI|N|
C1541923|A rare bacterial infectious disease characterized by infection of a native or prosthetic heart valve, the endocardial surface, or an indwelling cardiac device. Main causative agents are Gram-positive bacteria, most commonly <i>Staphylococcus</i> and <i>Streptococcus</i> species. Signs and symptoms include high fever or prolonged subfebrile state, excessive sweating, malaise, asthenia, arthralgia, myalgia, weight loss, headache, nausea, dyspnea, cough, heart murmurs, and petechiae of the skin. The most common complications are embolism in different organs and ischemic stroke, sepsis, heart failure, and renal failure.|ORDO|N|
C1542107|An intraepithelial carcinoma arising from any part of the digestive system without evidence of invasion.|NCI|N|
C1542178|Bone fracture anywhere in the tibia, fibula, or ankle.|HPO|N|
C1542647|A rare, acquired, typically benign, bacterial infectious disease caused by &lt;i&gt;Staphylococcus aureus&lt;/i&gt; characterized by large, fragile vesicles and flaccid bullae on an erythematous base, which evolve into moistened erosions with a thin, varnish-like crust, usually localized in intertriginous areas of the trunk and extremities (armpits, groins, between the fingers or toes, beneath the breasts). Although uncommon, systemic symptoms, such as fever, diarrhea, and weakness, may be associated.|ORPHANET|N|
C1546180|The age at which death occurred.|NCI|N|
C1546956|Based on a KPS score of 0|LNC|N|
C1547215|A finding that generally has features of degeneration and necrosis.|NCI|N|
C1547668|A health care facility designation that is based on the skills and specialties of the providers and the medical complexity of the cases being treated.|NCI|N|
C1547674|A term used to describe the workflow progression of a document or the state of the project or activity in terms of being finished, concluded, or made whole.|NCI|N|
C1548670|No inquiry was made to gather this information.|NCI|N|
C1548672|An indication that a question was asked and the response is unknown.|NCI|N|
C1549057|Information is not available currently but expected to be made available in the near future.|NCI|N|
C1549108|The condition existing when an order or judgement is considered temporary until either a specified period of time has passed or specific information is provided to assist in rendering a permanent decision.|NCI|N|
C1549109|A marital status in which a voidable marriage is legally declared null and void, as though it never existed. Specific grounds for annullment vary within the presiding jurisdiction, whether geographic or religious.|NCI|N|
C1549111|Indicates a person who is a member of an unmarried couple, including same sex couples, living together in longstanding relationships, that are registered or unregistered.|NCI|N|
C1551028|A type of living arrangement or mating system in which at least one member of a relationship has more than one mate.|NCI|N|
C1556118|Extent to which body weight, muscle, and fat are congruent to height, frame, gender, and age|NOC|N|
C1556172|Asymptomatic, intervention not indicated|NCI|N|
C1556173|Symptomatic, intervention not indicated; change in medication initiated|NCI|N|
C1556174|Symptomatic, intervention indicated|NCI|N|
C1556175|Life-threatening consequences; urgent intervention indicated|NCI|N|
C1556176|Death|NCI|N|
C1556177|Asymptomatic, intervention not indicated|NCI|N|
C1556178|Symptomatic; non-urgent medical intervention indicated|NCI|N|
C1556179|Urgent medical intervention indicated|NCI|N|
C1556187|An adverse event characterized by premature atrial contractions of the heart caused by signals originating from ectopic atrial sites or the atrioventricular node.|NCI|N|
C1556193|Asymptomatic, intervention not indicated|NCI|N|
C1556194|Non-urgent medical intervention indicated|NCI|N|
C1556195|Symptomatic, urgent intervention indicated|NCI|N|
C1556196|Life-threatening consequences|NCI|N|
C1556197|Death|NCI|N|
C1556235|Life-threatening consequences; hemodynamic compromise|NCI|N|
C1556236|Death|NCI|N|
C1556243|Non-urgent medical intervention indicated|NCI|N|
C1556244|Symptomatic, urgent intervention indicated|NCI|N|
C1556245|Life-threatening consequences; hemodynamic compromise|NCI|N|
C1556246|Death|NCI|N|
C1556272|Adult: Systolic BP 120-139 mm Hg or diastolic BP 80-89 mm Hg; Pediatric: Systolic/diastolic BP >90th percentile but< 95th percentile; Adolescent: BP >= 120/80 even if < 95th percentile|NCI|N|
C1556273|Adult: Systolic BP 140-159 mm Hg or diastolic BP 90-99 mm Hg if previously WNL; change in baseline medical intervention indicated; recurrent or persistent (>=24 hrs); symptomatic increase by >20 mm Hg (diastolic) or to >140/90 mm Hg; monotherapy indicated initiated; Pediatric and adolescent: Recurrent or persistent (>=24 hrs) BP >ULN; monotherapy indicated; systolic and /or diastolic BP between the 95th percentile and 5 mmHg above the 99th percentile; Adolescent: Systolic between 130-139 or diastolic between 80-89 even if < 95th percentile|NCI|N|
C1556274|Adult: Systolic BP >=160 mm Hg or diastolic BP >=100 mm Hg; medical intervention indicated; more than one drug or more intensive therapy than previously used indicated; Pediatric and adolescent: Systolic and/or diastolic > 5 mmHg above the 99th percentile|NCI|N|
C1556275|Adult and Pediatric: Life-threatening consequences (e.g., malignant hypertension, transient or permanent neurologic deficit, hypertensive crisis); urgent intervention indicated|NCI|N|
C1556276|Death|NCI|N|
C1556277|Asymptomatic, intervention not indicated|NCI|N|
C1556278|Non-urgent medical intervention indicated|NCI|N|
C1556279|Medical intervention indicated; hospitalization indicated|NCI|N|
C1556280|Life-threatening consequences and urgent intervention indicated|NCI|N|
C1556281|Death|NCI|N|
C1556289|Symptomatic due to drop in ejection fraction responsive to intervention|NCI|N|
C1556290|Refractory or poorly controlled heart failure due to drop in ejection fraction; intervention such as ventricular assist device, intravenous vasopressor support, or heart transplant indicated|NCI|N|
C1556291|Death|NCI|N|
C1556292|Severe with symptoms at rest or with minimal activity or exertion; intervention indicated; new onset of symptoms|NCI|N|
C1556293|Life-threatening consequences; urgent intervention indicated (e.g., continuous IV therapy or mechanical hemodynamic support)|NCI|N|
C1556294|Death|NCI|N|
C1556300|Asymptomatic, ECG or physical findings (e.g., rub) consistent with pericarditis|NCI|N|
C1556301|Symptomatic pericarditis (e.g., chest pain)|NCI|N|
C1556302|Pericarditis with physiologic consequences (e.g., pericardial constriction)|NCI|N|
C1556303|Life-threatening consequences; urgent intervention indicated|NCI|N|
C1556304|Death|NCI|N|
C1556305|Minimal dyspnea; findings on physical exam or other evaluation|NCI|N|
C1556306|Moderate dyspnea, cough; requiring evaluation by cardiac catheterization and medical intervention|NCI|N|
C1556307|Severe symptoms, associated with hypoxia, right heart failure; oxygen indicated|NCI|N|
C1556308|Life-threatening airway consequences; urgent intervention indicated (e.g., tracheotomy or intubation)|NCI|N|
C1556309|Death|NCI|N|
C1556310|Imaging findings only|NCI|N|
C1556311|Symptomatic without signs of heart failure|NCI|N|
C1556312|Symptomatic heart failure or other cardiac symptoms, responsive to intervention; new onset of symptoms|NCI|N|
C1556313|Refractory heart failure or other poorly controlled cardiac symptoms|NCI|N|
C1556314|Death|NCI|N|
C1556315|A disorder characterized by impairment of right ventricular function associated with low ejection fraction and a decrease in motility of the right ventricular wall.|NCI|N|
C1556316|Asymptomatic with laboratory (e.g., BNP [B-Natriuretic Peptide ]) or cardiac imaging abnormalities|NCI|N|
C1556317|Symptoms with moderate activity or exertion|NCI|N|
C1556318|Severe symptoms, associated with hypoxia, right heart failure; oxygen indicated|NCI|N|
C1556319|Life-threatening consequences; urgent intervention indicated (e.g., ventricular assist device); heart transplant indicated|NCI|N|
C1556320|Death|NCI|N|
C1556333|Laboratory findings with no bleeding|NCI|N|
C1556334|Laboratory findings and bleeding|NCI|N|
C1556335|Life-threatening consequences; urgent intervention indicated|NCI|N|
C1556336|Death|NCI|N|
C1556361|An unfavorable feeling of fatigue temporally associated with the use of a medical treatment or procedure.|NCI|N|
C1556362|Fatigue relieved by rest|NCI|N|
C1556363|Fatigue not relieved by rest; limiting instrumental ADL|NCI|N|
C1556364|Fatigue not relieved by rest, limiting self care ADL|NCI|N|
C1556372|35->32 degrees C; 95->89.6 degrees F|NCI|N|
C1556373|32->28 degrees C; 89.6->82.4 degrees F|NCI|N|
C1556374|<=28 degrees C; 82.4 degrees F; life-threatening consequences (e.g., coma, hypotension, pulmonary edema, acidemia, ventricular fibrillation)|NCI|N|
C1556375|Death|NCI|N|
C1556376|Mild difficulty falling asleep, staying asleep or waking up early|NCI|N|
C1556377|Moderate difficulty falling asleep, staying asleep or waking up early|NCI|N|
C1556378|Severe difficulty in falling asleep, staying asleep or waking up early|NCI|N|
C1556380|Obesity with a body mass index of 35 to 39.9 kg per square meter.|HPO|N|
C1556381|Obesity with a body mass index of 40 kg per square meter or higher.|HPO|N|
C1556382|BMI >=40 kg/m2|NCI|N|
C1556472|Loss of appetite without alteration in eating habits|NCI|N|
C1556473|Oral intake decreased without significant weight loss, dehydration or malnutrition|NCI|N|
C1556474|Inadequate oral caloric or fluid intake; tube feeding, TPN, or hospitalization indicated|NCI|N|
C1556494|Life-threatening consequences; urgent invasive intervention indicated|NCI|N|
C1556495|Death|NCI|N|
C1556497|Life-threatening consequences; urgent invasive intervention indicated|NCI|N|
C1556498|Death|NCI|N|
C1556514|A disorder characterized by a necrotic process occurring in the peritoneum.|NCI|N|
C1556515|Tube feeding or TPN indicated; invasive intervention indicated|NCI|N|
C1556516|Life-threatening consequences; urgent operative intervention indicated|NCI|N|
C1556517|Death|NCI|N|
C1556518|Inability to aliment adequately by GI tract; invasive intervention indicated; tube feeding or TPN indicated|NCI|N|
C1556519|Life-threatening consequences; urgent operative intervention indicated|NCI|N|
C1556520|Death|NCI|N|
C1556521|A disorder characterized by a necrotic process occurring in the rectal wall.|NCI|N|
C1556522|Tube feeding or TPN indicated; invasive intervention indicated|NCI|N|
C1556523|Life-threatening consequences; urgent operative intervention indicated|NCI|N|
C1556524|Death|NCI|N|
C1556555|Asymptomatic; clinical or diagnostic observations only; intervention not indicated|NCI|N|
C1556556|Symptomatic; altered GI function; IV fluids indicated <24 hrs|NCI|N|
C1556557|Symptomatic and severely altered GI function; tube feeding, TPN or hospitalization indicated; non-emergent operative intervention indicated|NCI|N|
C1556558|Life-threatening consequences; urgent operative intervention indicated|NCI|N|
C1556559|Death|NCI|N|
C1556560|Asymptomatic; clinical or diagnostic observations only; intervention not indicated|NCI|N|
C1556561|Symptomatic; altered GI function; limiting instrumental ADL; naso-gastric tube indicated|NCI|N|
C1556562|Hospitalization indicated; invasive intervention indicated; limiting self care ADL; long intestinal tube indicated|NCI|N|
C1556563|Life-threatening consequences; urgent operative intervention indicated|NCI|N|
C1556564|Death|NCI|N|
C1556565|Asymptomatic; clinical or diagnostic observations only; intervention not indicated|NCI|N|
C1556566|Symptomatic; altered GI function; limiting instrumental ADL|NCI|N|
C1556567|Hospitalization indicated; invasive intervention indicated; limiting self care ADL|NCI|N|
C1556568|Life-threatening consequences; urgent operative intervention indicated|NCI|N|
C1556569|Death|NCI|N|
C1556570|Asymptomatic; clinical or diagnostic observations only; intervention not indicated|NCI|N|
C1556571|Symptomatic; altered GI function; limiting instrumental ADL|NCI|N|
C1556572|Hospitalization indicated; invasive intervention indicated; limiting self care ADL|NCI|N|
C1556573|Life-threatening consequences; urgent operative intervention indicated|NCI|N|
C1556574|Death|NCI|N|
C1556614|Mild symptoms; intervention not indicated|NCI|N|
C1556615|Moderate symptoms; intervention indicated|NCI|N|
C1556616|Transfusion indicated; invasive intervention indicated; hospitalization|NCI|N|
C1556617|Life-threatening consequences; intubation or urgent intervention indicated|NCI|N|
C1556618|Death|NCI|N|
C1556619|A disorder characterized by bleeding from the pleural cavity.|NCI|N|
C1556620|Asymptomatic; mild hemorrhage confirmed by thoracentesis|NCI|N|
C1556621|Symptomatic or associated with pneumothorax; chest tube drainage indicated|NCI|N|
C1556622|>1000 ml of blood evacuated; persistent bleeding (150-200 ml/hr for 2-4 hr); persistent transfusion indicated; elective operative intervention indicated; hospitalization|NCI|N|
C1556623|Life-threatening consequences; intubation or urgent intervention indicated|NCI|N|
C1556624|Death|NCI|N|
C1556636|A disorder characterized by bleeding from the trachea.|NCI|N|
C1556637|Mild symptoms; intervention not indicated|NCI|N|
C1556638|Moderate symptoms; intervention indicated|NCI|N|
C1556639|Transfusion indicated; invasive intervention indicated; hospitalization|NCI|N|
C1556640|Life-threatening consequences; urgent intervention indicated|NCI|N|
C1556641|Death|NCI|N|
C1556657|Symptomatic; medical intervention indicated|NCI|N|
C1556658|Severe symptoms; invasive intervention indicated|NCI|N|
C1556659|Life-threatening consequences; urgent operative intervention indicated|NCI|N|
C1556660|Death|NCI|N|
C1556678|Enzyme elevation; radiologic findings only|NCI|N|
C1556679|Severe pain; vomiting; medical intervention indicated (e.g., analgesia, nutritional support)|NCI|N|
C1556680|Life-threatening consequences; urgent intervention indicated|NCI|N|
C1556681|Death|NCI|N|
C1556690|ANC <1000/mm3 with a single temperature of >38.3 degrees C (101 degrees F) or a sustained temperature of >=38 degrees C (100.4 degrees F) for more than one hour|NCI|N|
C1556691|Life-threatening consequences; urgent intervention indicated|NCI|N|
C1556692|Death|NCI|N|
C1557162|Asymptomatic; clinical or diagnostic observations only; intervention not indicated|NCI|N|
C1557163|Symptomatic; medical intervention indicated|NCI|N|
C1557164|Severe symptoms; invasive intervention indicated|NCI|N|
C1557286|Brief generalized seizure|NCI|N|
C1557287|New onset seizures (partial or generalized); multiple seizures despite medical intervention|NCI|N|
C1557288|Life-threatening consequences; prolonged repetitive seizures|NCI|N|
C1557289|Death|NCI|N|
C1557299|Fainting; orthostatic collapse|NCI|N|
C1557302|Mild symptoms|NCI|N|
C1557303|Moderate symptoms; limiting instrumental ADL|NCI|N|
C1557304|Severe symptoms; limiting self care ADL|NCI|N|
C1557307|Asymptomatic; clinical or diagnostic observations only; intervention not indicated|NCI|N|
C1557308|Symptomatic; moderate decrease in visual acuity (best corrected visual acuity 20/40 and better or 3 lines or less decreased vision from known baseline); glare symptoms affecting instrumental ADL|NCI|N|
C1557309|Symptomatic with marked decrease in visual acuity (best corrected visual acuity worse than 20/40 or more than 3 lines of decreased vision from known baseline, up to 20/200); limiting self care ADL|NCI|N|
C1557317|Less than 8 mmHg of elevated intraocular pressure (EIOP); no visual field deficit|NCI|N|
C1557318|EIOP which can be reduced to 21 mmHg or under with topical medications and no visual field deficit|NCI|N|
C1557319|EIOP causing visual field deficits|NCI|N|
C1557320|Visual field deficit within the central 10 degrees of the visual field in the affected eye|NCI|N|
C1557321|A disorder characterized by inflammation to the cornea of the eye.|NCI|N|
C1557322|Asymptomatic; clinical or diagnostic observations only; intervention not indicated|NCI|N|
C1557323|Symptomatic; moderate decrease in visual acuity (best corrected visual acuity 20/40 and better or 3 lines or less decreased vision from known baseline)|NCI|N|
C1557324|Symptomatic with marked decrease in visual acuity (best corrected visual acuity worse than 20/40 or more than 3 lines of decreased vision from known baseline, up to 20/200); corneal ulcer; limiting self care ADL|NCI|N|
C1557325|Perforation; best corrected visual acuity of 20/200 or worse in the affected eye|NCI|N|
C1557332|Moderate symptoms; limiting instrumental ADL|NCI|N|
C1557333|Severe symptoms; limiting self care ADL|NCI|N|
C1557360|Macular sparing rhegmatogenous detachment|NCI|N|
C1557361|Macula-off rhegmatogenous retinal detachment|NCI|N|
C1557362|Asymptomatic; clinical or diagnostic observations only|NCI|N|
C1557363|Symptomatic; moderate decrease in visual acuity (best corrected visual acuity 20/40 and better or 3 lines or less decreased vision from known baseline); limiting instrumental ADL|NCI|N|
C1557364|Symptomatic with marked decrease in visual acuity (best corrected visual acuity worse than 20/40 or more than 3 lines of decreased vision from known baseline, up to 20/200); limiting self care ADL|NCI|N|
C1557365|Best corrected visual acuity of 20/200 or worse in the affected eye|NCI|N|
C1557371|Anterior uveitis with trace cells|NCI|N|
C1557372|Anterior uveitis with 1+ or 2+ cells|NCI|N|
C1557373|Anterior uveitis with 3+ or greater cells; intermediate posterior or pan-uveitis|NCI|N|
C1557374|Best corrected visual acuity of 20/200 or worse in the affected eye|NCI|N|
C1557375|A disorder characterized by visual perception of unclear or fuzzy images.|NCI|N|
C1557376|Intervention not indicated|NCI|N|
C1557377|Symptomatic; moderate decrease in visual acuity (best corrected visual acuity 20/40 and better or 3 lines or less decreased vision from known baseline); limiting instrumental ADL|NCI|N|
C1557378|Symptomatic with marked decrease in visual acuity (best corrected visual acuity worse than 20/40 or more than 3 lines of decreased vision from known baseline, up to 20/200); limiting self care ADL|NCI|N|
C1557379|Best corrected visual acuity of 20/200 or worse in the affected eye|NCI|N|
C1557386|Symptomatic but not limiting ADL|NCI|N|
C1557387|Limiting instrumental ADL|NCI|N|
C1557388|Limiting self care ADL|NCI|N|
C1557390|Intervention not indicated|NCI|N|
C1557391|Symptomatic; moderate decrease in visual acuity (best corrected visual acuity 20/40 and better or 3 lines or less decreased vision from known baseline); limiting instrumental ADL|NCI|N|
C1557392|Symptomatic with marked decrease in visual acuity (best corrected visual acuity worse than 20/40 or more than 3 lines of decreased vision from known baseline, up to 20/200); limiting self care ADL; vitrectomy indicated|NCI|N|
C1557406|Mild pain|NCI|N|
C1557407|Moderate pain; limiting instrumental ADL|NCI|N|
C1557408|Severe pain; limiting self care ADL|NCI|N|
C1557414|Mild pain|NCI|N|
C1557415|Moderate pain; limiting instrumental ADL|NCI|N|
C1557416|Severe pain; limiting self care ADL|NCI|N|
C1557418|Mild pain|NCI|N|
C1557419|Moderate pain; limiting instrumental ADL|NCI|N|
C1557420|Severe pain; limiting self care ADL|NCI|N|
C1557422|Mild pain|NCI|N|
C1557423|Moderate pain; limiting instrumental ADL|NCI|N|
C1557424|Severe pain; limiting self care ADL|NCI|N|
C1557431|Mild pain|NCI|N|
C1557432|Moderate pain; limiting instrumental ADL|NCI|N|
C1557433|Severe pain; limiting self care ADL|NCI|N|
C1557449|Mild pain|NCI|N|
C1557450|Moderate pain; limiting instrumental ADL|NCI|N|
C1557451|Severe pain; limiting self care ADL|NCI|N|
C1557458|Mild pain|NCI|N|
C1557459|Moderate pain; limiting instrumental ADL|NCI|N|
C1557460|Severe pain; limiting self care ADL|NCI|N|
C1557466|Mild pain|NCI|N|
C1557467|Moderate pain; limiting instrumental ADL|NCI|N|
C1557468|Severe pain; limiting self care ADL|NCI|N|
C1557492|Mild pain|NCI|N|
C1557493|Moderate pain; limiting instrumental ADL|NCI|N|
C1557494|Severe pain; limiting self care ADL|NCI|N|
C1557500|Mild pain|NCI|N|
C1557501|Moderate pain; limiting instrumental ADL|NCI|N|
C1557502|Severe pain; limiting self care ADL|NCI|N|
C1557513|Mild pain|NCI|N|
C1557514|Moderate pain; limiting instrumental ADL|NCI|N|
C1557515|Severe pain; limiting self care ADL|NCI|N|
C1557522|Mild pain|NCI|N|
C1557523|Moderate pain; limiting instrumental ADL|NCI|N|
C1557524|Severe pain; limiting self care ADL|NCI|N|
C1557532|Present|NCI|N|
C1557543|Mild pain|NCI|N|
C1557544|Moderate pain; limiting instrumental ADL|NCI|N|
C1557545|Severe pain; limiting self care ADL|NCI|N|
C1557578|Mild pain|NCI|N|
C1557579|Moderate pain; limiting instrumental ADL|NCI|N|
C1557580|Severe pain; limiting self care ADL|NCI|N|
C1557586|Mild pain|NCI|N|
C1557587|Moderate pain; limiting instrumental ADL|NCI|N|
C1557588|Severe pain; limiting self care ADL|NCI|N|
C1557594|Mild pain|NCI|N|
C1557595|Moderate pain; limiting instrumental ADL|NCI|N|
C1557596|Severe pain; limiting self care ADL|NCI|N|
C1557607|Mild pain|NCI|N|
C1557608|Moderate pain; limiting instrumental ADL|NCI|N|
C1557609|Severe pain; limiting self care ADL|NCI|N|
C1557629|Present with radiologic findings; intubation not indicated|NCI|N|
C1557630|Life-threatening respiratory or hemodynamic compromise; intubation or urgent intervention indicated|NCI|N|
C1557631|Death|NCI|N|
C1557632|Asymptomatic; clinical or diagnostic observations only; intervention not indicated|NCI|N|
C1557633|Altered eating habits; coughing or choking episodes after eating or swallowing; medical intervention indicated (e.g., suction or oxygen)|NCI|N|
C1557634|Dyspnea and pneumonia symptoms (e.g., aspiration pneumonia); hospitalization indicated; unable to aliment orally|NCI|N|
C1557635|Life-threatening respiratory or hemodynamic compromise; intubation or urgent intervention indicated|NCI|N|
C1557636|Death|NCI|N|
C1557637|Asymptomatic; clinical or diagnostic observations only; intervention not indicated|NCI|N|
C1557638|Symptomatic (e.g., dyspnea, cough); medical intervention indicated (e.g., chest physiotherapy, suctioning); bronchoscopic suctioning|NCI|N|
C1557639|Supplemental oxygen indicated; hospitalization or elective operative intervention indicated (e.g., stent, laser)|NCI|N|
C1557640|Life-threatening respiratory or hemodynamic compromise; intubation or urgent intervention indicated|NCI|N|
C1557641|Death|NCI|N|
C1557654|Asymptomatic; clinical or diagnostic observations only; intervention not indicated|NCI|N|
C1557655|Symptomatic; medical intervention indicated (e.g., fat-restricted diet); thoracentesis or tube drainage indicated|NCI|N|
C1557656|Severe symptoms; elective operative intervention indicated|NCI|N|
C1557657|Life-threatening respiratory or hemodynamic compromise; intubation or urgent intervention indicated|NCI|N|
C1557658|Death|NCI|N|
C1557659|Mild symptoms; nonprescription intervention indicated|NCI|N|
C1557660|Moderate symptoms, medical intervention indicated; limiting instrumental ADL|NCI|N|
C1557661|Severe symptoms; limiting self care ADL|NCI|N|
C1557662|Shortness of breath with moderate exertion|NCI|N|
C1557663|Shortness of breath with minimal exertion; limiting instrumental ADL|NCI|N|
C1557664|Shortness of breath at rest; limiting self care ADL|NCI|N|
C1557665|Life-threatening consequences; urgent intervention indicated|NCI|N|
C1557666|Death|NCI|N|
C1557684|Asymptomatic|NCI|N|
C1557685|Symptomatic, invasive intervention not indicated|NCI|N|
C1557686|Invasive intervention indicated|NCI|N|
C1557687|Life-threatening consequences; urgent intervention indicated|NCI|N|
C1557688|Death|NCI|N|
C1557712|Asymptomatic|NCI|N|
C1557713|Symptomatic, invasive intervention not indicated|NCI|N|
C1557714|Invasive intervention indicated|NCI|N|
C1557715|Life-threatening consequences; urgent intervention indicated|NCI|N|
C1557716|Death|NCI|N|
C1557721|Decreased oxygen saturation with exercise (e.g., pulse oximeter <88%); intermittent supplemental oxygen|NCI|N|
C1557722|Decreased oxygen saturation at rest (e.g., pulse oximeter <88% or PaO2 <=55 mm Hg)|NCI|N|
C1557723|Life-threatening airway compromise; urgent intervention indicated (e.g., tracheotomy or intubation)|NCI|N|
C1557724|Death|NCI|N|
C1557768|Asymptomatic; clinical or diagnostic observations only; intervention not indicated|NCI|N|
C1557769|Symptomatic; intervention indicated|NCI|N|
C1557770|Sclerosis and/or operative intervention indicated; hospitalization indicated|NCI|N|
C1557771|Life-threatening consequences; urgent intervention indicated|NCI|N|
C1557772|Death|NCI|N|
C1557807|Intervention not indicated|NCI|N|
C1557808|Antispasmodics indicated|NCI|N|
C1557809|Hospitalization indicated|NCI|N|
C1557847|Asymptomatic|NCI|N|
C1557848|Symptomatic, invasive intervention not indicated|NCI|N|
C1557849|Invasive intervention indicated|NCI|N|
C1557850|Life-threatening consequences; urgent intervention indicated|NCI|N|
C1557851|Death|NCI|N|
C1557852|Occasional (e.g., with coughing, sneezing, etc.), pads not indicated|NCI|N|
C1557853|Spontaneous; pads indicated; limiting instrumental ADL|NCI|N|
C1557854|Intervention indicated (e.g., clamp, collagen injections); operative intervention indicated; limiting self care ADL|NCI|N|
C1557923|Asymptomatic; clinical or diagnostic observations only; intervention not indicated|NCI|N|
C1557924|Symptomatic; elective intervention indicated|NCI|N|
C1557925|Severe symptoms; invasive intervention indicated|NCI|N|
C1557933|Blockage of the normal flow of the contents of the spermatic cord.|NCI|N|
C1557934|Asymptomatic; clinical or diagnostic observations only; intervention not indicated|NCI|N|
C1557935|Symptomatic; elective intervention indicated|NCI|N|
C1557936|Severe symptoms; invasive intervention indicated|NCI|N|
C1557971|Blockage of the normal flow of the sperm in the vas deferens.|NCI|N|
C1557979|Invasive intervention not indicated|NCI|N|
C1557980|Invasive intervention indicated|NCI|N|
C1557981|Life-threatening consequences; organ failure; urgent operative intervention indicated|NCI|N|
C1557982|Death|NCI|N|
C1557983|A rupture of the fallopian tube wall due to tubal pregnancy, or other traumatic or pathologic processes.|NCI|N|
C1557985|Invasive intervention not indicated|NCI|N|
C1557986|Invasive intervention indicated|NCI|N|
C1557987|Life-threatening consequences; urgent operative intervention indicated (e.g., organ resection)|NCI|N|
C1557988|Death|NCI|N|
C1557989|A rupture in the kidney due to traumatic or pathologic processes.|NCI|N|
C1558007|An opening in the wall of the spermatic cord.|NCI|N|
C1558046|A rupture in the wall of the vas deferens.|NCI|N|
C1558141|A disorder characterized by accumulation of urine within the bladder because of the inability to urinate.|NCI|N|
C1558142|Urinary, suprapubic or intermittent catheter placement not indicated; able to void with some residual|NCI|N|
C1558143|Placement of urinary, suprapubic or intermittent catheter placement indicated; medication indicated|NCI|N|
C1558144|Elective invasive intervention indicated; substantial loss of affected kidney function or mass|NCI|N|
C1558145|Life-threatening consequences; organ failure; urgent operative intervention indicated|NCI|N|
C1558146|Death|NCI|N|
C1558168|Decrease in erectile function (frequency or rigidity of erections) but intervention not indicated (e.g., medication or use of mechanical device, penile pump)|NCI|N|
C1558169|Decrease in erectile function (frequency/rigidity of erections), erectile intervention indicated, (e.g., medication or mechanical devices such as penile pump)|NCI|N|
C1558170|Decrease in erectile function (frequency/rigidity of erections) but erectile intervention not helpful (e.g., medication or mechanical devices such as penile pump); placement of a permanent penile prosthesis indicated (not previously present)|NCI|N|
C1558171|Symptomatic (e.g., pain or psychosocial impact)|NCI|N|
C1558172|Severe symptoms; elective operative intervention indicated|NCI|N|
C1558194|Mild vaginal dryness not interfering with sexual function|NCI|N|
C1558195|Moderate vaginal dryness interfering with sexual function or causing frequent discomfort|NCI|N|
C1558917|Fluid retention; <3 kg of weight gain; intervention with fluid restriction and/or diuretics indicated|NCI|N|
C1558918|Moderate signs or symptoms; steroids indicated|NCI|N|
C1558919|Severe symptoms; hospitalization indicated|NCI|N|
C1558920|Life-threatening consequences; ventilatory support indicated|NCI|N|
C1558921|Death|NCI|N|
C1558948|Present|NCI|N|
C1558949|Death|NCI|N|
C1559031|A finding of damage to the inferior vena cava.|NCI|N|
C1559032|Asymptomatic diagnostic finding; intervention not indicated|NCI|N|
C1559033|Symptomatic; repair or revision not indicated|NCI|N|
C1559034|Severe symptoms; limiting self care ADL; repair or revision indicated|NCI|N|
C1559035|Life-threatening consequences; urgent intervention indicated|NCI|N|
C1559036|Death|NCI|N|
C1559075|5-<10% from baseline|NCI|N|
C1559076|10-<20% from baseline|NCI|N|
C1559077|>=20% from baseline|NCI|N|
C1559078|5 to <10% from baseline; intervention not indicated|NCI|N|
C1559079|10-<20% from baseline; nutritional support indicated|NCI|N|
C1559080|>=20% from baseline; tube feeding or TPN indicated|NCI|N|
C1559081|An adverse event resulting in death.|NCI|N|
C1559083|Death|NCI|N|
C1559085|Death|NCI|N|
C1559088|Covering <10% BSA; associated with telangiectasias or changes in skin color|NCI|N|
C1559089|Covering 10-30% BSA; associated with striae or adnexal structure loss|NCI|N|
C1559096|Minimal symptoms; intervention not indicated|NCI|N|
C1559097|Medical intervention; minimal debridement indicated|NCI|N|
C1559098|Moderate to major debridement or reconstruction indicated|NCI|N|
C1559099|Life-threatening consequences|NCI|N|
C1559100|Death|NCI|N|
C1559101|Asymptomatic; clinical or diagnostic observations only; intervention not indicated|NCI|N|
C1559102|Moderate symptoms; limiting instrumental ADL|NCI|N|
C1559103|Severe symptoms; limiting self care ADL; intervention indicated|NCI|N|
C1559110|Covering <10% BSA and no associated erythema or pruritus|NCI|N|
C1559111|Covering 10-30% BSA and associated with erythema or pruritus; limiting instrumental ADL|NCI|N|
C1559112|Covering >30% BSA and associated with pruritus; limiting self care ADL|NCI|N|
C1559113|Asymptomatic; clinical or diagnostic observations only|NCI|N|
C1559114|Moderate symptoms; limiting instrumental ADL|NCI|N|
C1559115|A disorder characterized by a decrease in density of hair compared to normal for a given individual at a given age and body location.|NCI|N|
C1559116|Hair loss of <50% of normal for that individual that is not obvious from a distance but only on close inspection; a different hair style may be required to cover the hair loss but it does not require a wig or hair piece to camouflage|NCI|N|
C1559117|Hair loss of >=50% normal for that individual that is readily apparent to others; a wig or hair piece is necessary if the patient desires to completely camouflage the hair loss; associated with psychosocial impact|NCI|N|
C1559130|Present|NCI|N|
C1559133|Painless erythema and erythema covering <10% BSA|NCI|N|
C1559134|Tender erythema covering 10-30% BSA|NCI|N|
C1559135|Erythema covering >30% BSA and erythema with blistering; photosensitivity; oral corticosteroid therapy indicated; pain control indicated (e.g., narcotics or NSAIDs)|NCI|N|
C1559136|Life-threatening consequences; urgent intervention indicated|NCI|N|
C1559137|Death|NCI|N|
C1559138|A disorder characterized by an intense itching sensation.|NCI|N|
C1559139|Mild or localized; topical intervention indicated|NCI|N|
C1559140|Widespread and intermittent; skin changes from scratching (e.g., edema, papulation, excoriations, lichenification, oozing/crusts); oral intervention indicated; limiting instrumental ADL|NCI|N|
C1559141|Widespread and constant; limiting self care ADL or sleep; systemic corticosteroid or immunosuppressive therapy indicated|NCI|N|
C1559181|Telangiectasias covering <10% BSA|NCI|N|
C1559182|Telangiectasias covering >=10% BSA; associated with psychosocial impact|NCI|N|
C1559188|A disorder characterized by an itchy skin eruption characterized by wheals with pale interiors and well-defined red margins.|NCI|N|
C1559189|Urticarial lesions covering <10% BSA; topical intervention indicated|NCI|N|
C1559190|Urticarial lesions covering 10-30% BSA; oral intervention indicated|NCI|N|
C1559191|Urticarial lesions covering >30% BSA; IV intervention indicated|NCI|N|
C1559199|Asymptomatic; clinical or diagnostic observations only; intervention not indicated|NCI|N|
C1559200|Moderate symptoms; medical intervention indicated|NCI|N|
C1559201|Severe symptoms; hospitalization indicated|NCI|N|
C1559202|Life-threatening consequences; urgent intervention indicated|NCI|N|
C1559203|Death|NCI|N|
C1559266|Loss of appetite without alteration in eating habits|NCI|N|
C1559267|Oral intake altered without significant weight loss or malnutrition; oral nutritional supplements indicated|NCI|N|
C1559268|Associated with significant weight loss or malnutrition (e.g., inadequate oral caloric and/or fluid intake); tube feeding or TPN indicated|NCI|N|
C1559269|Life-threatening consequences; urgent intervention indicated|NCI|N|
C1559270|Death|NCI|N|
C1559277|Asymptomatic; clinical or diagnostic observations only; intervention not indicated|NCI|N|
C1559278|Abdominal pain; mucus or blood in stool|NCI|N|
C1559279|Severe abdominal pain; peritoneal signs|NCI|N|
C1559280|Life-threatening consequences; urgent intervention indicated|NCI|N|
C1559281|Death|NCI|N|
C1559282|Occasional or intermittent symptoms; occasional use of stool softeners, laxatives, dietary modification, or enema|NCI|N|
C1559283|Persistent symptoms with regular use of laxatives or enemas; limiting instrumental ADL|NCI|N|
C1559284|Obstipation with manual evacuation indicated; limiting self care ADL|NCI|N|
C1559285|Life-threatening consequences; urgent intervention indicated|NCI|N|
C1559286|Death|NCI|N|
C1559287|Increased oral fluids indicated; dry mucous membranes; diminished skin turgor|NCI|N|
C1559288|IV fluids indicated|NCI|N|
C1559289|Hospitalization indicated|NCI|N|
C1559290|Life-threatening consequences; urgent intervention indicated|NCI|N|
C1559291|Death|NCI|N|
C1559300|A disorder in the gingival tissue around the teeth.|NCI|N|
C1559301|Gingival recession or gingivitis; limited bleeding on probing; mild local bone loss|NCI|N|
C1559302|Moderate gingival recession or gingivitis; multiple sites of bleeding on probing; moderate bone loss|NCI|N|
C1559303|Spontaneous bleeding; severe bone loss with or without tooth loss; osteonecrosis of maxilla or mandible|NCI|N|
C1559308|Increase of <4 stools per day over baseline; mild increase in ostomy output compared to baseline|NCI|N|
C1559309|Increase of 4-6 stools per day over baseline; moderate increase in ostomy output compared to baseline; limiting instrumental ADL|NCI|N|
C1559310|Increase of >=7 stools per day over baseline; hospitalization indicated; severe increase in ostomy output compared to baseline; limiting self care ADL|NCI|N|
C1559311|Life-threatening consequences; urgent intervention indicated|NCI|N|
C1559312|Death|NCI|N|
C1559324|Life-threatening consequences; urgent intervention indicated|NCI|N|
C1559325|Death|NCI|N|
C1559337|Invasive intervention not indicated|NCI|N|
C1559338|Invasive intervention indicated|NCI|N|
C1559339|Life-threatening consequences; urgent operative intervention indicated|NCI|N|
C1559340|Death|NCI|N|
C1559351|Rectal discomfort, intervention not indicated|NCI|N|
C1559352|Symptomatic (e.g., rectal discomfort, passing blood or mucus); medical intervention indicated; limiting instrumental ADL|NCI|N|
C1559353|Severe symptoms; fecal urgency or stool incontinence; limiting self care ADL|NCI|N|
C1559354|Life-threatening consequences; urgent intervention indicated|NCI|N|
C1559355|Death|NCI|N|
C1559458|Symptomatic (e.g., abdominal pain, fever, change in bowel habits with ileus); peritoneal signs|NCI|N|
C1559459|Life-threatening consequences; urgent operative intervention indicated|NCI|N|
C1559460|Death|NCI|N|
C1559487|Asymptomatic; clinical or diagnostic observations only; intervention not indicated|NCI|N|
C1559488|Symptomatic; altered GI function|NCI|N|
C1559489|Severely altered GI function; TPN indicated; elective invasive intervention indicated|NCI|N|
C1559490|Life-threatening consequences; urgent operative intervention indicated|NCI|N|
C1559491|Death|NCI|N|
C1559492|Asymptomatic; clinical or diagnostic observations only; intervention not indicated|NCI|N|
C1559493|Symptomatic; altered GI function|NCI|N|
C1559494|Severely altered GI function; TPN indicated; elective invasive intervention indicated|NCI|N|
C1559495|Life-threatening consequences; urgent operative intervention indicated|NCI|N|
C1559496|Death|NCI|N|
C1559497|Asymptomatic; clinical or diagnostic observations only; intervention not indicated|NCI|N|
C1559498|Symptomatic; altered GI function (e.g., altered dietary habits, vomiting, diarrhea)|NCI|N|
C1559499|Severely altered GI function; TPN indicated; elective invasive intervention indicated|NCI|N|
C1559500|Life-threatening consequences; urgent operative intervention indicated|NCI|N|
C1559501|Death|NCI|N|
C1559519|Intervention not indicated|NCI|N|
C1559520|Outpatient IV hydration; medical intervention indicated|NCI|N|
C1559521|Tube feeding, TPN, or hospitalization indicated|NCI|N|
C1559522|Life-threatening consequences|NCI|N|
C1559523|Death|NCI|N|
C1559928|Asymptomatic; clinical or diagnostic observations only; intervention not indicated|NCI|N|
C1559968|1+ proteinuria; urinary protein > or = to ULN-<1.0 g/24 hrs|NCI|N|
C1559969|Adult: 2+ and 3+ proteinuria; urinary protein 1.0-<3.5 g/24 hrs; Pediatric: Urine P/C (Protein/Creatinine) ratio 0.5-1.9|NCI|N|
C1559970|Adult: Urinary protein >=3.5 g/24 hrs; 4+ proteinuria; Pediatric: Urine P/C (Protein/Creatinine) ratio >1.9|NCI|N|
C1560011|Asymptomatic; clinical or diagnostic observations only; intervention not indicated|NCI|N|
C1560012|Symptomatic; limiting instrumental ADL|NCI|N|
C1560013|Severe symptoms; limiting self care ADL; elective operative intervention indicated|NCI|N|
C1560030|Fibrotic degeneration of the deep connective tissues.|NCI|N|
C1560036|Asymptomatic; clinical or diagnostic observations only; intervention not indicated|NCI|N|
C1560037|Symptomatic but non-displaced; immobilization indicated|NCI|N|
C1560038|Severe symptoms; displaced or open wound with bone exposure; limiting self care ADL; operative intervention indicated|NCI|N|
C1560039|Life-threatening consequences; urgent intervention indicated|NCI|N|
C1560040|Death|NCI|N|
C1560041|Asymptomatic; clinical or diagnostic observations only; intervention not indicated|NCI|N|
C1560042|Symptomatic; limiting instrumental ADL|NCI|N|
C1560043|Severe symptoms; limiting self care ADL; invasive intervention indicated|NCI|N|
C1560147|Severe arthralgia or arthritis; extensive rash; steroids or IV fluids indicated|NCI|N|
C1560148|Death|NCI|N|
C1560149|Asymptomatic, intervention not indicated|NCI|N|
C1560150|Moderate symptoms, medical intervention indicated|NCI|N|
C1560151|Severe symptoms, medical intervention indicated (e.g., steroids)|NCI|N|
C1560152|Life-threatening consequences; evidence of peripheral or visceral ischemia; urgent intervention indicated|NCI|N|
C1560153|Death|NCI|N|
C1560182|Moderate symptoms; limiting instrumental ADL|NCI|N|
C1560183|Severe symptoms; limiting self care ADL|NCI|N|
C1560209|A disorder characterized by laboratory test results that indicate widespread erythrocyte cell membrane destruction.|NCI|N|
C1560210|Laboratory evidence of hemolysis only (e.g., direct antiglobulin test; DAT; Coombs''; schistocytes; decreased haptoglobin)|NCI|N|
C1560211|Evidence of hemolysis and >=2 g decrease in hemoglobin|NCI|N|
C1560212|Transfusion or medical intervention indicated (e.g., steroids)|NCI|N|
C1560213|Life-threatening consequences; urgent intervention indicated|NCI|N|
C1560214|Death|NCI|N|
C1560215|Moderate symptoms; intervention not indicated|NCI|N|
C1560216|Severe symptoms; intervention indicated|NCI|N|
C1560217|Life-threatening consequences; urgent intervention indicated|NCI|N|
C1560218|Death|NCI|N|
C1560256|Periods of asystole; non-urgent medical management indicated|NCI|N|
C1560259|Life-threatening consequences; urgent intervention indicated|NCI|N|
C1560260|Death|NCI|N|
C1560266|A disorder characterized by a dysrhythmia with a progressively lengthening PR interval prior to the blocking of an atrial impulse. This is the result of intermittent failure of atrial electrical impulse conduction through the atrioventricular (AV) node to the ventricles.|NCI|N|
C1560267|Asymptomatic, intervention not indicated|NCI|N|
C1560268|Symptomatic; medical intervention indicated|NCI|N|
C1560269|Symptomatic and incompletely controlled medically, or controlled with device (e.g., pacemaker)|NCI|N|
C1560270|Life-threatening consequences; urgent intervention indicated|NCI|N|
C1560271|Death|NCI|N|
C1560272|Asymptomatic, intervention not indicated|NCI|N|
C1560273|Symptomatic; medical intervention indicated|NCI|N|
C1560274|Symptomatic and incompletely controlled medically, or controlled with device (e.g., pacemaker); new onset|NCI|N|
C1560275|Life-threatening consequences; urgent intervention indicated|NCI|N|
C1560276|Death|NCI|N|
C1560288|Asymptomatic, intervention not indicated|NCI|N|
C1560289|Symptomatic, intervention not indicated; change in medication initiated|NCI|N|
C1560290|Symptomatic, intervention indicated|NCI|N|
C1560291|Life-threatening consequences; urgent intervention indicated|NCI|N|
C1560292|Death|NCI|N|
C1560303|Mild symptoms; intervention not indicated|NCI|N|
C1560304|Intervention indicated|NCI|N|
C1560305|A longer than normal interval (corrected for heart rate) between the Q and T waves in the heart's cycle. Prolonged QTc can cause premature action potentials during late phase depolarizations thereby leading to ventricular arrhythmias and ventricular fibrillations.|HPO|N|
C1560312|Asymptomatic, intervention not indicated|NCI|N|
C1560313|Non-urgent medical intervention indicated|NCI|N|
C1560314|Symptomatic, urgent intervention indicated; device (e.g., pacemaker); ablation; new onset|NCI|N|
C1560315|Life-threatening consequences; embolus requiring urgent intervention|NCI|N|
C1560316|Death|NCI|N|
C1560317|Asymptomatic, intervention not indicated|NCI|N|
C1560318|Non-urgent medical intervention indicated|NCI|N|
C1560319|Symptomatic, urgent intervention indicated; device (e.g., pacemaker); ablation|NCI|N|
C1560320|Life-threatening consequences; embolus requiring urgent intervention|NCI|N|
C1560321|Death|NCI|N|
C1560331|A disorder characterized by difficulty in swallowing.|NCI|N|
C1560332|Symptomatic, able to eat regular diet|NCI|N|
C1560333|Symptomatic and altered eating/swallowing|NCI|N|
C1560334|Severely altered eating/swallowing; tube feeding, TPN, or hospitalization indicated|NCI|N|
C1560335|Life-threatening consequences; urgent intervention indicated|NCI|N|
C1560336|Death|NCI|N|
C1560343|Asymptomatic; clinical or diagnostic observations only; intervention not indicated|NCI|N|
C1560344|Symptomatic; altered eating/swallowing; oral supplements indicated|NCI|N|
C1560345|Severely altered eating/swallowing; tube feeding, TPN, or hospitalization indicated|NCI|N|
C1560346|Life-threatening consequences; urgent operative intervention indicated|NCI|N|
C1560347|Death|NCI|N|
C1560371|Asymptomatic|NCI|N|
C1560372|Symptomatic, invasive intervention not indicated|NCI|N|
C1560373|Invasive intervention indicated|NCI|N|
C1560374|Life-threatening consequences; urgent intervention indicated|NCI|N|
C1560375|Death|NCI|N|
C1560376|Asymptomatic|NCI|N|
C1560377|Symptomatic, invasive intervention not indicated|NCI|N|
C1560378|Invasive intervention indicated|NCI|N|
C1560379|Life-threatening consequences; urgent intervention indicated|NCI|N|
C1560380|Death|NCI|N|
C1560381|Asymptomatic|NCI|N|
C1560382|Symptomatic, invasive intervention not indicated|NCI|N|
C1560383|Invasive intervention indicated|NCI|N|
C1560384|Life-threatening consequences; urgent intervention indicated|NCI|N|
C1560385|Death|NCI|N|
C1560386|Asymptomatic|NCI|N|
C1560387|Symptomatic, invasive intervention not indicated|NCI|N|
C1560388|Invasive intervention indicated|NCI|N|
C1560389|Life-threatening consequences; urgent intervention indicated|NCI|N|
C1560390|Death|NCI|N|
C1560391|Asymptomatic|NCI|N|
C1560392|Symptomatic, invasive intervention not indicated|NCI|N|
C1560393|Invasive intervention indicated|NCI|N|
C1560394|Life-threatening consequences; urgent intervention indicated|NCI|N|
C1560395|Death|NCI|N|
C1560402|Asymptomatic|NCI|N|
C1560403|Symptomatic, invasive intervention not indicated|NCI|N|
C1560404|Invasive intervention indicated|NCI|N|
C1560405|Life-threatening consequences; urgent intervention indicated|NCI|N|
C1560406|Death|NCI|N|
C1560407|A disorder characterized by an abnormal communication between the pharynx and another organ or anatomic site.|NCI|N|
C1560408|Asymptomatic|NCI|N|
C1560409|Symptomatic, invasive intervention not indicated|NCI|N|
C1560410|Invasive intervention indicated|NCI|N|
C1560411|Life-threatening consequences; urgent intervention indicated|NCI|N|
C1560412|Death|NCI|N|
C1560413|Asymptomatic|NCI|N|
C1560414|Symptomatic, invasive intervention not indicated|NCI|N|
C1560415|Invasive intervention indicated|NCI|N|
C1560416|Life-threatening consequences; urgent intervention indicated|NCI|N|
C1560417|Death|NCI|N|
C1560418|Asymptomatic|NCI|N|
C1560419|Symptomatic, invasive intervention not indicated|NCI|N|
C1560420|Invasive intervention indicated|NCI|N|
C1560421|Life-threatening consequences; urgent intervention indicated|NCI|N|
C1560422|Death|NCI|N|
C1560433|Mild symptoms; intervention not indicated|NCI|N|
C1560434|Moderate; persistent; psychosocial sequelae|NCI|N|
C1560435|A disorder characterized by inflammation of the stomach.|NCI|N|
C1560436|Asymptomatic; clinical or diagnostic observations only; intervention not indicated|NCI|N|
C1560437|Symptomatic; altered GI function; medical intervention indicated|NCI|N|
C1560438|Severely altered eating or gastric function; TPN or hospitalization indicated|NCI|N|
C1560439|Life-threatening consequences; urgent operative intervention indicated|NCI|N|
C1560440|Death|NCI|N|
C1560451|Asymptomatic; clinical or diagnostic observations only; intervention not indicated|NCI|N|
C1560452|Symptomatic; banding or medical intervention indicated|NCI|N|
C1560453|Severe symptoms; invasive intervention indicated|NCI|N|
C1560456|A disorder characterized by failure of the ileum to transport intestinal contents.|NCI|N|
C1560457|Asymptomatic and radiologic observations only|NCI|N|
C1560458|Symptomatic; altered GI function; bowel rest indicated|NCI|N|
C1560459|Severely altered GI function; TPN indicated; tube placement indicated|NCI|N|
C1560460|Life-threatening consequences; urgent intervention indicated|NCI|N|
C1560461|Death|NCI|N|
C1560528|Altered diet; oral intervention indicated|NCI|N|
C1560529|Inability to aliment adequately; TPN indicated|NCI|N|
C1560530|Life-threatening consequences; urgent intervention indicated|NCI|N|
C1560531|Death|NCI|N|
C1560570|No breast development by age 13 yrs for females; testes volume of <3 cc or no Tanner Stage 2 development by age 14.5 yrs for males|NCI|N|
C1560571|No breast development by age 14 yrs for females; no increase in testes volume or no Tanner Stage 2 by age 16 yrs for males; hormone replacement indicated|NCI|N|
C1560572|Physical signs and biochemical markers of puberty for females <8 years and males <9 years|NCI|N|
C1560576|Mild symptoms; intervention not indicated|NCI|N|
C1560577|Minimally invasive evacuation or aspiration indicated|NCI|N|
C1560578|Transfusion; invasive intervention indicated|NCI|N|
C1560579|Life-threatening consequences; urgent intervention indicated|NCI|N|
C1560580|Death|NCI|N|
C1560624|Mild symptoms; intervention not indicated|NCI|N|
C1560625|Moderate symptoms; intervention indicated|NCI|N|
C1560626|Transfusion indicated; invasive intervention indicated; hospitalization|NCI|N|
C1560627|Life-threatening consequences; urgent intervention indicated|NCI|N|
C1560628|Death|NCI|N|
C1560629|Mild symptoms; intervention not indicated|NCI|N|
C1560630|Moderate symptoms; intervention indicated|NCI|N|
C1560631|Transfusion indicated; invasive intervention indicated; hospitalization|NCI|N|
C1560632|Life-threatening consequences; urgent intervention indicated|NCI|N|
C1560633|Death|NCI|N|
C1560644|A disorder characterized by bleeding from the mouth.|NCI|N|
C1560645|Mild symptoms; intervention not indicated|NCI|N|
C1560646|Moderate symptoms; intervention indicated|NCI|N|
C1560647|Transfusion indicated; invasive intervention indicated; hospitalization|NCI|N|
C1560648|Life-threatening consequences; urgent intervention indicated|NCI|N|
C1560649|Death|NCI|N|
C1560650|Mild symptoms; intervention not indicated|NCI|N|
C1560651|Moderate symptoms; intervention indicated|NCI|N|
C1560652|Transfusion indicated; invasive intervention indicated; hospitalization|NCI|N|
C1560653|Life-threatening consequences; urgent intervention indicated|NCI|N|
C1560654|Death|NCI|N|
C1560660|Mild symptoms; intervention not indicated|NCI|N|
C1560661|Moderate symptoms; intervention indicated|NCI|N|
C1560662|Transfusion indicated; invasive intervention indicated; hospitalization|NCI|N|
C1560663|Life-threatening consequences; urgent intervention indicated|NCI|N|
C1560664|Death|NCI|N|
C1560682|Self-limited; intervention not indicated|NCI|N|
C1560683|Transfusion indicated; invasive intervention indicated; hospitalization|NCI|N|
C1560684|Life-threatening consequences; urgent intervention indicated|NCI|N|
C1560685|Death|NCI|N|
C1560703|Mild symptoms; intervention not indicated|NCI|N|
C1560704|Analgesics and hematocrit monitoring indicated|NCI|N|
C1560705|Transfusion indicated; invasive intervention indicated; hospitalization|NCI|N|
C1560706|Life-threatening consequences; urgent intervention indicated|NCI|N|
C1560707|Death|NCI|N|
C1560708|Mild symptoms; intervention not indicated|NCI|N|
C1560709|Moderate symptoms; intervention indicated|NCI|N|
C1560710|Transfusion indicated; invasive intervention indicated; hospitalization|NCI|N|
C1560711|Life-threatening consequences; urgent intervention indicated|NCI|N|
C1560712|Death|NCI|N|
C1560713|Mild symptoms; intervention not indicated|NCI|N|
C1560714|Moderate symptoms; intervention indicated|NCI|N|
C1560715|Transfusion indicated; invasive intervention indicated; hospitalization|NCI|N|
C1560716|Life-threatening consequences; urgent intervention indicated|NCI|N|
C1560717|Death|NCI|N|
C1560724|Mild symptoms; intervention not indicated|NCI|N|
C1560725|Moderate symptoms; intervention indicated|NCI|N|
C1560726|Transfusion indicated; invasive intervention indicated; hospitalization|NCI|N|
C1560727|Life-threatening consequences; urgent intervention indicated|NCI|N|
C1560728|Death|NCI|N|
C1560735|Mild symptoms; intervention not indicated|NCI|N|
C1560736|Moderate symptoms; intervention indicated|NCI|N|
C1560737|Transfusion indicated; invasive intervention indicated; hospitalization|NCI|N|
C1560738|Life-threatening consequences; urgent intervention indicated|NCI|N|
C1560739|Death|NCI|N|
C1560757|A disorder characterized by bleeding from the uterus.|NCI|N|
C1560758|Mild symptoms; intervention not indicated|NCI|N|
C1560759|Moderate symptoms; intervention indicated|NCI|N|
C1560760|Transfusion indicated; invasive intervention indicated; hospitalization|NCI|N|
C1560761|Life-threatening consequences; urgent intervention indicated|NCI|N|
C1560762|Death|NCI|N|
C1560763|Mild symptoms; intervention not indicated|NCI|N|
C1560764|Moderate symptoms; intervention indicated|NCI|N|
C1560765|Transfusion indicated; invasive intervention indicated; hospitalization|NCI|N|
C1560766|Life-threatening consequences; urgent intervention indicated|NCI|N|
C1560767|Death|NCI|N|
C1560786|Mild cough or trace hemoptysis; laryngoscopic findings|NCI|N|
C1560787|Moderate symptoms; intervention indicated|NCI|N|
C1560788|Transfusion indicated; invasive intervention indicated; hospitalization|NCI|N|
C1560789|Life-threatening consequences; urgent intervention indicated (e.g., tracheotomy or intubation)|NCI|N|
C1560790|Death|NCI|N|
C1560796|A disorder characterized by bleeding from the mediastinum.|NCI|N|
C1560797|Mild symptoms; intervention not indicated; radiologic evidence only|NCI|N|
C1560798|Moderate symptoms; intervention indicated|NCI|N|
C1560799|Transfusion indicated; invasive intervention indicated; hospitalization|NCI|N|
C1560800|Life-threatening consequences; urgent intervention indicated|NCI|N|
C1560801|Death|NCI|N|
C1560807|A disorder characterized by bleeding from the pharynx.|NCI|N|
C1561211|Mild pain|NCI|N|
C1561212|Moderate pain associated with weakness; pain limiting instrumental ADL|NCI|N|
C1561213|Pain associated with severe weakness; limiting self care ADL|NCI|N|
C1561214|Life-threatening consequences; urgent intervention indicated|NCI|N|
C1561222|Adult: Radiologic evidence of osteoporosis or Bone Mineral Density (BMD) t-score -1 to -2.5 (osteopenia); Pediatric: Radiologic evidence of low BMD with z score of <= -2.0 and no history of significant fractures|NCI|N|
C1561223|Adult: BMD t-score < -2.5; loss of height <2 cm; therapy to improve BMD indicated; limiting instrumental ADL; Pediatric: Low BMD (z-score <= -2.0) and significant fracture history (defined as a long bone fracture of the lower extremity, vertebral compression, 2 or more long bone fractures of the upper extremities); therapy to improve BMD indicated|NCI|N|
C1561224|Adult: Loss of height >=2 cm; hospitalization indicated; limiting self care ADL; Pediatric: Limiting self care ADL|NCI|N|
C1561227|Asymptomatic; clinical or diagnostic observations only; intervention not indicated|NCI|N|
C1561228|Symptomatic; simple aspiration indicated|NCI|N|
C1561229|Symptomatic, elective invasive intervention indicated|NCI|N|
C1561246|A necrotic process affecting the soft tissues of the head.|NCI|N|
C1561247|Local wound care; medical intervention indicated (e.g., dressings or topical medications)|NCI|N|
C1561248|Operative debridement or other invasive intervention indicated (e.g., tissue reconstruction, flap, or grafting)|NCI|N|
C1561249|Life-threatening consequences; urgent intervention indicated|NCI|N|
C1561250|Death|NCI|N|
C1561251|A necrotic process affecting the soft tissues of the neck.|NCI|N|
C1561252|Local wound care; medical intervention indicated (e.g., dressings or topical medications)|NCI|N|
C1561253|Operative debridement or other invasive intervention indicated (e.g., tissue reconstruction, flap, or grafting)|NCI|N|
C1561254|Life-threatening consequences; urgent intervention indicated|NCI|N|
C1561255|Death|NCI|N|
C1561256|A necrotic process affecting the soft tissues of the pelvis.|NCI|N|
C1561257|Local wound care; medical intervention indicated (e.g., dressings or topical medications)|NCI|N|
C1561258|Operative debridement or other invasive intervention indicated (e.g., tissue reconstruction, flap, or grafting)|NCI|N|
C1561259|Life-threatening consequences; urgent intervention indicated|NCI|N|
C1561260|Death|NCI|N|
C1561266|A disorder characterized by lack of ability to open the mouth fully due to a decrease in the range of motion of the muscles of mastication.|NCI|N|
C1561267|Decreased ROM (range of motion) without impaired eating|NCI|N|
C1561268|Decreased ROM requiring small bites, soft foods or purees|NCI|N|
C1561269|Decreased ROM with inability to adequately aliment or hydrate orally|NCI|N|
C1561271|Present; medical intervention indicated|NCI|N|
C1561272|Life-threatening respiratory or hemodynamic compromise; intubation or urgent intervention indicated|NCI|N|
C1561273|Death|NCI|N|
C1561281|Asymptomatic; clinical or diagnostic observations only; intervention not indicated|NCI|N|
C1561282|Moderate symptoms; limiting instrumental ADL|NCI|N|
C1561283|Severe symptoms; limiting self care ADL; mechanical assistance indicated|NCI|N|
C1561286|Asymptomatic; clinical or diagnostic observations only; intervention not indicated|NCI|N|
C1561287|Moderate symptoms; limiting instrumental ADL|NCI|N|
C1561288|Severe symptoms; limiting self care ADL|NCI|N|
C1561302|Mild cognitive disability; not interfering with work/school/life performance; specialized educational services/devices not indicated|NCI|N|
C1561303|Moderate cognitive disability; interfering with work/school/life performance but capable of independent living; specialized resources on part time basis indicated|NCI|N|
C1561304|Severe cognitive disability; significant impairment of work/school/life performance|NCI|N|
C1561307|Mild disorientation|NCI|N|
C1561308|Moderate disorientation; limiting instrumental ADL|NCI|N|
C1561309|Severe disorientation; limiting self care ADL|NCI|N|
C1561310|Life-threatening consequences; urgent intervention indicated|NCI|N|
C1561312|Mild unsteadiness or sensation of movement|NCI|N|
C1561313|Moderate unsteadiness or sensation of movement; limiting instrumental ADL|NCI|N|
C1561314|Severe unsteadiness or sensation of movement; limiting self care ADL|NCI|N|
C1561316|Moderate symptoms; limiting instrumental ADL|NCI|N|
C1561317|Severe symptoms; limiting self care ADL|NCI|N|
C1561318|Life-threatening consequences; urgent intervention indicated|NCI|N|
C1561319|Death|NCI|N|
C1561326|Asymptomatic; clinical or diagnostic observations only; intervention not indicated|NCI|N|
C1561327|Moderate symptoms; intervention not indicated|NCI|N|
C1561328|Severe symptoms or neurological deficit; intervention indicated|NCI|N|
C1561329|Life-threatening consequences; urgent intervention indicated|NCI|N|
C1561330|Death|NCI|N|
C1561350|Mild memory impairment|NCI|N|
C1561351|Moderate memory impairment; limiting instrumental ADL|NCI|N|
C1561352|Severe memory impairment; limiting self care ADL|NCI|N|
C1561356|Mild mood alteration|NCI|N|
C1561357|Moderate mood alteration|NCI|N|
C1561358|Severe agitation; hospitalization not indicated|NCI|N|
C1561359|Life-threatening consequences; urgent intervention indicated|NCI|N|
C1561361|Mild symptoms; intervention not indicated|NCI|N|
C1561362|Moderate symptoms; limiting instrumental ADL|NCI|N|
C1561363|Severe symptoms; limiting self care ADL; hospitalization indicated|NCI|N|
C1561364|Life-threatening consequences; urgent intervention indicated|NCI|N|
C1561366|Mild depressive symptoms|NCI|N|
C1561367|Moderate depressive symptoms; limiting instrumental ADL|NCI|N|
C1561368|Severe depressive symptoms; limiting self care ADL; hospitalization not indicated|NCI|N|
C1561369|Life-threatening consequences, threats of harm to self or others; hospitalization indicated|NCI|N|
C1561370|Death|NCI|N|
C1561371|Mild mood elevation|NCI|N|
C1561372|Moderate mood elevation|NCI|N|
C1561373|Severe mood elevation (e.g., hypomania)|NCI|N|
C1561376|Asymptomatic; mild signs (e.g., Babinski''s reflex or Lhermitte''s sign)|NCI|N|
C1561377|Moderate weakness or sensory loss; limiting instrumental ADL|NCI|N|
C1561378|Severe weakness or sensory loss; limiting self care ADL|NCI|N|
C1561379|Life-threatening consequences; urgent intervention indicated|NCI|N|
C1561380|Death|NCI|N|
C1561381|A finding indicating the presence of multiple pouches, usually in the colonic or gastric wall.|NCI|N|
C1561566|An adverse event marked by a change in FEV1 lung function.|NCI|N|
C1561643|Functional anomaly of the kidney persisting for at least three months.|HPO|N|
C1561701|A childhood disorder characterized by difficulty initiating and maintaining sleep due to negative sleep associations, refusal to go to bed, and/or repeated attempts to delay bedtime.|NCI|N|
C1561855|Idiopathic hypersomnia without long sleep time is a sleep disorder characterized almost entirely by constant excessive daytime drowsiness lasting more than 3 months, with involuntary more or less restorative daytime naps. Night rest is of normal length or slightly prolonged but is less than 10 hours in duration, with often normal awakening.|MONDO|N|
C1561974|A complex translational motion of the sacrum in its relationship to the innominates. (Sometimes described as a sidebending in one direction and rotation in the opposite direction. Alternatively described as a unilateral movement along the arc of the L-shaped curve of the sacroiliac joint.)|AOT|N|
C1561975|Rib motion of ribs 11 and 12 characterized by single joint motion; analogous to internal and external rotation.|AOT|N|
C1561980|Impaired or altered function of the cranial region.|AOT|N|
C1561982|An acute postoperative inflammatory reaction in which a noninfectious substance enters the anterior segment of the eye and induces toxic damage to the intraocular tissues.|NCI|N|
C1561989|A condition characterized by a loss or deficiency of the stem cells in the limbus that are vital for re-population of the corneal epithelium and to the barrier function of the limbus.|HPO|N|
C1561996|1. A physiologic function occurring in the sacrum during ambulation and forward bending. 2. A sacral somatic dysfunction around an oblique axis in which a torque occurs between the sacrum and innominates. The L5 vertebra rotates in the opposite direction of the sacrum. 3. If the L5 does not rotate opposite to the sacrum, L5 is termed maladapted.4. Other terms for this maladaption include: rotations about an oblique axis, anterior or posterior sacrum and a torsion with a non-compensated L5 (Archaic use).|AOT|N|
C1562003|A somatic dysfunction in which the anterior superior iliac spine (ASIS) and posterior superior iliac spines (PSIS) are superior to the contralateral landmarks. The innominate (os coxa) moves more freely in a superior direction and is restricted from movement in an inferior direction.|AOT|N|
C1562042|A somatic dysfunction in which movement or position of one or several ribs is altered or disrupted.For example, an elevated rib is one held in a position of inhalation such that motion toward inhalation is freer, and motion toward exhalation is restricted. A depressed rib is one held in a position of exhalation such that motion toward exhalation is freer, and there is a restriction in inhalation.|AOT|N|
C1562055|1. A sacral somatic dysfunction that involves rotation of the sacrum about a middle transverse axis such that the sacral base has moved anteriorly between the pelvic bones. Forward movement of the sacral base is freer, backward movement is restricted and both sulci are deep. 2. The reverse of bilateral sacral extension.|AOT|N|
C1562061|Microspherophakia (MSP) is a rare disease characterized by smaller and more spherical lenses than normal bilaterally, an increased anteroposterior thickness of the lens, and highly myopic eyes. Lens dislocation or subluxation may occur, leading to defective accommodation (summary by Ben Yahia et al., 2009).
Microspherophakia may occur in association with ectopia lentis and glaucoma, Marfan syndrome (MFS; 154700), and Weill-Marchesani syndrome (WMS; 277600).|OMIM|N|
C1562085|Impaired or altered function of the cervical region.|AOT|N|
C1562100|A grouping of primary and secondary sites of somatic dysfunction describing a three-segment complex fundamental to dysfunction in a mobile system. Each adjacent segment, above and below the primary locus, demonstrates opposing asymmetries to that locus.|SNOMEDCT_US|N|
C1562113|Fleck corneal dystrophy (CFD) is a rare autosomal dominant disease characterized by numerous tiny, dot-like white flecks scattered in all layers of the corneal stroma. Typically, the stroma located in between the flecks is clear, and the endothelium, the epithelium, Bowman layer, and Descemet membrane are normal. Patients are usually asymptomatic with normal vision, yet a small number of patients report the sensation of a minor photophobia. The flecks in CFD can appear as early as 2 years of age, or sometimes even at birth, and appear not to progress significantly throughout life. Histologically, the corneal flecks appear to correspond to abnormal keratocytes swollen with membrane-limited intracytoplasmic vesicles containing complex lipids and glycosaminoglycans (summary by Kawasaki et al., 2012).|OMIM|N|
C1562119|A somatic dysfunction in which the pubic bones are pulled away from each other at the pubic symphysis. This dysfunction is frequently seen in women following childbirth.|AOT|N|
C1562164|A somatic dysfunction in which the innominate bone is rotated posteriorly around a transverse axis relative to the sacrum. The innominate moves more freely in posterior rotation and is restricted in anterior rotation. The anterior superior iliac spine (ASIS) is positioned superiorly and the posterior superior iliac spine (PSIS) is positioned inferiorly when compared to the contralateral landmarks.|SNOMEDCT_US|N|
C1562168|A positional term based on the Strachan model referring to a sacral somatic dysfunction in which the sacral base has rotated posterior and sidebent to the side opposite to the rotation. The dysfunction is named for the side on which the posterior rotation occurs. The tissue texture changes are found at the lower pole on the side of rotation.(Foundations). (The motion characteristics of L5 are not described.)|AOT|N|
C1562191|A somatic dysfunction in which one pubic bone is displaced superiorly with relation to its normal mate.|AOT|N|
C1562192|A somatic dysfunction of the innominate (os coxae) resulting in lateral positioning of the anterior superior iliac spine (ASIS). The innominate moves more freely in a lateral direction, and is restricted from movement in a medial direction.|AOT|N|
C1562193|Cormack and Lehane grade 3 - epiglottis visible, vocal cords not visible at direct laryngoscopy.|SNOMEDCT_US|N|
C1562206|A somatic dysfunction in which one pubic bone is displaced inferiorly with relation to its normal mate.|AOT|N|
C1562211|Cormack and Lehane grade 1 - vocal cords visible at direct laryngoscopy.|SNOMEDCT_US|N|
C1562218|A somatic dysfunction of the innominate (os coxae) resulting in medial positioning of the anterior superior iliac spine (ASIS). The innominate moves more freely in a medial direction and is restricted from movement in a lateral direction.|AOT|N|
C1562225|A somatic dysfunction in which the anterior superior iliac spine (ASIS) is anterior and inferior to the contralateral landmark. The innominate (os coxae) moves more freely in an anterior and inferior direction, and is restricted from movement in a posterior and superior direction.|AOT|N|
C1562231|Somatic dysfunction in which the basisphenoid and basiocciput are held forced together significantly limiting SBS motion.|SNOMEDCT_US|N|
C1562262|Any of a group of somatic dysfunctions involving primarily the inter-relationship between the basilar portion of the sphenoid (basisphenoid) and the basilar portion of the occiput (basiocciput).|SNOMEDCT_US|N|
C1562298|A disease or disorder that involves the cardiac ventricle.|MONDO|N|
C1562326|A painful low back condition characterised by hypertonicity of psoas musculature.|SNOMEDCT_US|N|
C1562353|A positional term based on the Strachan model referring to sacral somatic dysfunction in which the sacral base has rotated anterior and sidebent to the side opposite the rotation. The upper limb of the SI (sacroiliac) joint has restricted motion and is named for the side on which forward rotation had occurred. Tissue texture changes are found at the deep sulcus. (The motion characteristics of L5 are not described.)|AOT|N|
C1562363|Four-vessel umbilical cord containing two arteries and two veins.|HPO|N|
C1562370|Cormack and Lehane grade 4 - epiglottis not visible at direct laryngoscopy.|SNOMEDCT_US|N|
C1562379|A somatic dysfunction in which the anterior superior iliac spine (ASIS) and posterior superior iliac spines (PSIS) are inferior to the contralateral landmarks. The innominate (os coxa) moves more freely in an inferior direction, and is restricted from movement in a superior direction.|AOT|N|
C1562392|Motion and/or positional asymmetry associated with elastic deformation of connective tissue (fascia, ligament, membrane).|AOT|N|
C1562415|Sense of resistance to light traction applied to the skin. Related to the degree of moisture and degree of sympathetic nervous system activity.|SNOMEDCT_US|N|
C1562425|1. Somatic dysfunction usually characterized by a rib being held in a position of exhalation such that motion toward exhalation is more free and motion toward inhalation is restricted. Synonyms: inhalation rib restriction exhalation strain, depressed rib. 2. An anterior rib tender point in counterstrain. . Somatic dysfunction usually characterized by a rib being held in a position of exhalation such that motion toward exhalation is more free and motion toward inhalation is restricted; Synonyms: inhalation rib restriction, exhalation strain, depressed rib. 2. An anterior rib tender point in counterstrain.|AOT|N|
C1562435|A non-neoplastic trophoblastic disorder characterized by the presence of remnants of intermediate trophoblasts in the uterine cavity and infrequently the fallopian tube from a previous pregnancy.|NCI|N|
C1562447|Movement of the ribs during respiration such that with inhalation the lateral aspect of the rib moves cephalad resulting in an increase of transverse diameter of the thorax. This type of rib motion is predominantly found in lower ribs, increasing from the upper to the lower ribs.|AOT|N|
C1562457|1. A system of reflex points that present as predictable anterior and posterior fascial tissue texture abnormalities (plaque-like changes or stringiness of the involved tissues) assumed to be reflections of visceral dysfunction or pathology.2. Originally used by Frank Chapman, DO, and described by Charles Owens, DO.|AOT|N|
C1562462|A rare cutaneous myiasis characterized by infestation of humans by the larvae of horse or cattle bot flies. After penetration of the skin, horse bot fly larvae form tunnels in the lower layers of the epidermis, where they can migrate for up to several months, causing serpentine, erythematous lesions with intense pruritus. Cattle bot fly larvae penetrate deeper into the subcutaneous tissue, producing more painful, erythematous lesions, which usually resolve after several hours or days, when the larvae move on to infest another area.|ORDO|N|
C1562476|A concentric contraction against resistance in which the angular change of joint motion is at the same rate and the counterforce is less than the patient force.|SNOMEDCT_US|N|
C1562486|The precise physiologic point in which the proprioceptive information provided by the ligaments allows the body to equalize the stresses exerted on an articulation in all directions.|SNOMEDCT_US|N|
C1562503|An arteriovenous malformation in the vein of Galen that is located at the base of the brain. The malformation may result in developmental delays, hydrocephalus, seizures, and congestive heart failure.|NCI|N|
C1562509|The limit of motion imposed by anatomic structure; the limit of passive motion.|AOT|N|
C1562516|Impaired or altered function of the thoracic region.|AOT|N|
C1562585|A lepromatous form of leprosy that is characterized by numerous infiltrated skin lesions displaying high bacillary loads, impaired peripheral nerves, possible involvement of internal organs, and a Th2-mediated immune response.|MONDO|N|
C1562594|A form of eccentric contraction designed to break adhesions using an operator-induced force to lengthen the muscle and in which, the counterforce is greater than the patient force.|SNOMEDCT_US|N|
C1562620|Impaired or altered function of the hand.|AOT|N|
C1562684|Any somatic dysfunction resulting in abnormal ligamentous tension or strain.|SNOMEDCT_US|N|
C1562686|Any of a group of somatic dysfunctions involving the sacrum. These may be the result of restriction of normal physiologic motion or trauma to the sacrum.|AOT|N|
C1562687|A rare, unilateral, benign embryonal neoplasm typically presenting as a ciliary body mass during childhood. It arises from primitive medullary epithelium.|NCI|N|
C1562724|Deep, dull achy pain associated with tissues derived from a common sclerotome.|SNOMEDCT_US|N|
C1562758|Posterior movement of the base of the sacrum in relation to the ilia.|SNOMEDCT_US|N|
C1562761|A type of keratitis characterized by inflammation in pinpoint areas of the corneal epithelium.|HPO|N|
C1562810|Impaired or altered function of the elbow.|AOT|N|
C1562811|Impaired or altered function of the ligament.|AOT|N|
C1562820|Small, hypersensitive points in the myofascial tissues of the body that do not have a pattern of pain radiation. These points are a manifestation of somatic dysfunction and are used as diagnostic criteria and for monitoring treatment.|SNOMEDCT_US|N|
C1562825|Impaired or altered function of the knee.|AOT|N|
C1562826|Unequal size and/or facing of the zygapophyseal joints of a vertebra.|SNOMEDCT_US|N|
C1562829|Cormack and Lehane grade 2 - arytenoid cartilages and posterior portion of vocal cords visible at direct laryngoscopy.|SNOMEDCT_US|N|
C1562856|A sacral somatic dysfunction in which the entire sacrum has moved posteriorly (backward) between the ilia. Posterior motion is freer, and anterior motion is restricted.|AOT|N|
C1562863|Impaired or altered function of the forearm.|AOT|N|
C1562866|A somatic dysfunction where the sphenoid and occiput have rotated in opposite directions around parallel transverse axes; the basiocciput and basisphenoid are both inferior in SBS extension with a decrease in the dorsal convexity between these two bones.|AOT|N|
C1562872|Tonic contraction of muscle dependent on some property of the muscle itself or of its intrinsic nerve cells.|SNOMEDCT_US|N|
C1562894|Thiel-Behnke corneal dystrophy (CDTB) is characterized by progressive honeycomb-like, subepithelial corneal opacities with recurrent erosions (Thiel and Behnke, 1967).|OMIM|N|
C1562908|A tuberculoid form of leprosy that is characterized by a small number of hypopigmented, well-bordered, anesthetic skin lesions with a low bacillary load, early peripheral nerve impairment, and a T-helper 1 (Th1)–mediated immune response.|MONDO|N|
C1562920|A sacral somatic dysfunction in which the entire sacrum has moved anteriorly (forward)between the ilia. Anterior motion is freer, and posterior motion is restricted.|AOT|N|
C1562931|Movement of the ribs during respiration such that with inhalation, the anterior aspect of the rib moves cephalad and causes an increase in the anteroposterior diameter of the thorax. This type of rib motion is found predominantly in the upper ribs, decreasing in motion from the upper to the lower ribs.|AOT|N|
C1562945|A rare subtype of posterior corneal dystrophy characterized by a diffuse ground-glass appearance of the corneas and marked corneal thickening from birth or infancy without nystagmus, with blurred vision.|ORDO|N|
C1562950|Localized visceral stimuli producing patterns of reflex response in segmentally related somatic structures.|AOT|N|
C1562983|1. A sacral somatic dysfunction that involves rotation of the sacrum about a middle transverse axis such that the sacral base has moved posteriorly relative to the pelvic bones. Backward movement of the sacral base is freer, forward movement is restricted and both sulci are shallow. 2. The reverse of bilateral sacral flexion.|AOT|N|
C1562984|A somatic dysfunction in which one pubic bone is displaced posteriorly with relation to its normal mate.|AOT|N|
C1562987|Any cranial somatic dysfunction resulting in abnormal dural membrane tension.|SNOMEDCT_US|N|
C1563016|An objective quantification of lumbar lordosis typically determined by measuring the angle between the superior surface of the second lumbar vertebra and the inferior surface of the fifth lumbar vertebra; best measured from a standing lateral x-ray film.|SNOMEDCT_US|N|
C1563025|Impaired or altered function of the arm.|AOT|N|
C1563028|Movement of the sacrum about a vertical (y axis) usually in relation to the innominate bones.|SNOMEDCT_US|N|
C1563056|The limit to motion; in defining barriers, the palpatory end-feel characteristics are useful.|SNOMEDCT_US|N|
C1563064|A tissue texture abnormality characterised principally by a palpable sense of sponginess in the tissue, interpreted as resulting from congestion due to increased fluid content.|SNOMEDCT_US|N|
C1563069|A somatic dysfunction in which the pubic bones are forced toward each other at the pubic symphysis. This dysfunction is characterized by tenderness to palpation over the pubic symphysis, lack of apparent asymmetry, but associated with restricted motion of the pelvic ring.|AOT|N|
C1563073|Movements used to potentiate, accentuate, or compensate for an impairment in a physiologic motion (e.g., the movements needed to move a paralyzed limb).|SNOMEDCT_US|N|
C1563096|The limit of active motion.|SNOMEDCT_US|N|
C1563107|Anterior movement of sacral base in relation to the ilia.|AOT|N|
C1563118|The inability to close the eyelids during sleep.|HPO|N|
C1563121|With the patient in a standing or seated position, any deviation of the sacral base from the horizontal in a coronal plane. Generally, the rotation of the sacrum about an anterior-posterior axis.|AOT|N|
C1563147|Impaired or altered function of the lumbar region.|AOT|N|
C1563162|Perceived quality of motion as an anatomic or physiologic restrictive barrier is approached.|SNOMEDCT_US|N|
C1563164|A tissue texture abnormality characterized by a cord-like feeling.|AOT|N|
C1563204|Localized somatic stimuli producing patterns of reflex response in segmentally related somatic structures.|AOT|N|
C1563235|A somatic dysfunction in which one pubic bone is displaced anteriorly with relation to its normal mate.|AOT|N|
C1563241|The ideal physiologic state of harmonious equilibrium in the tension of the dura mater of the brain and spinal cord.|SNOMEDCT_US|N|
C1563266|A sphenobasilar synchondrosis somatic dysfunction where the sphenoid and occiput have rotated in the same direction around parallel vertical axes. Lateral strains of the SBS are named for the position of the basisphenoid, right or left.|AOT|N|
C1563272|Yellow-white inflammatory aggregates in the vitreous that are found in the midvitreous and inferior periphery.|HPO|N|
C1563283|Posterior movement of the sacral base around a transverse axis in relation to the ilia.|SNOMEDCT_US|N|
C1563696|Disorders resulting from defective DNA REPAIR processes or the associated cellular responses to DNA DAMAGE.|MSH|N|
C1563705|Hereditary nephrogenic diabetes insipidus (NDI) is characterized by inability to concentrate the urine, which results in polyuria (excessive urine production) and polydipsia (excessive thirst). Affected untreated infants usually have poor feeding and failure to thrive, and rapid onset of severe dehydration with illness, hot environment, or the withholding of water. Short stature and secondary dilatation of the ureters and bladder from the high urine volume is common in untreated individuals.|GeneReviews|N|
C1563706|Hereditary nephrogenic diabetes insipidus (NDI) is characterized by inability to concentrate the urine, which results in polyuria (excessive urine production) and polydipsia (excessive thirst). Affected untreated infants usually have poor feeding and failure to thrive, and rapid onset of severe dehydration with illness, hot environment, or the withholding of water. Short stature and secondary dilatation of the ureters and bladder from the high urine volume is common in untreated individuals.|GeneReviews|N|
C1563715|Andersen-Tawil syndrome (ATS) is characterized by a triad of: episodic flaccid muscle weakness (i.e., periodic paralysis); ventricular arrhythmias and prolonged QT interval; and anomalies including low-set ears, widely spaced eyes, small mandible, fifth-digit clinodactyly, syndactyly, short stature, and scoliosis. Affected individuals present in the first or second decade with either cardiac symptoms (palpitations and/or syncope) or weakness that occurs spontaneously following prolonged rest or following rest after exertion. Mild permanent weakness is common. Mild learning difficulties and a distinct neurocognitive phenotype (i.e., deficits in executive function and abstract reasoning) have been described.|GeneReviews|N|
C1563716|In 80 to 85% of cases, congenital hypothyroidism is associated with, and presumably is a consequence of, thyroid dysgenesis. In these cases, the thyroid gland can be absent (agenesis), ectopically located, and/or severely reduced in size (hypoplasia). When thyroid hormone therapy is not initiated within the first 2 months of life, congenital hypothyroidism can cause severe neurologic, mental, and motor damage (Macchia et al., 1998).|OMIM|N|
C1563719|Isolated gonadotropin-releasing hormone (GnRH) deficiency (IGD) is characterized by inappropriately low serum concentrations of the gonadotropins LH (luteinizing hormone) and FSH (follicle-stimulating hormone) in the presence of low circulating concentrations of sex steroids. IGD is associated with a normal sense of smell (normosmic IGD) in approximately 40% of affected individuals and an impaired sense of smell (Kallmann syndrome) in approximately 60%. IGD can first become apparent in infancy, adolescence, or adulthood. Infant boys with congenital IGD often have micropenis and cryptorchidism. Adolescents and adults with IGD have clinical evidence of hypogonadism and incomplete sexual maturation on physical examination. Adult males with IGD tend to have prepubertal testicular volume (i.e., <4 mL), absence of secondary sexual features (e.g., facial and axillary hair growth, deepening of the voice), decreased muscle mass, diminished libido, erectile dysfunction, and infertility. Adult females have little or no breast development and primary amenorrhea. Although skeletal maturation is delayed, the rate of linear growth is usually normal except for the absence of a distinct pubertal growth spurt.|GeneReviews|N|
C1563720|Isolated gonadotropin-releasing hormone (GnRH) deficiency (IGD) is characterized by inappropriately low serum concentrations of the gonadotropins LH (luteinizing hormone) and FSH (follicle-stimulating hormone) in the presence of low circulating concentrations of sex steroids. IGD is associated with a normal sense of smell (normosmic IGD) in approximately 40% of affected individuals and an impaired sense of smell (Kallmann syndrome) in approximately 60%. IGD can first become apparent in infancy, adolescence, or adulthood. Infant boys with congenital IGD often have micropenis and cryptorchidism. Adolescents and adults with IGD have clinical evidence of hypogonadism and incomplete sexual maturation on physical examination. Adult males with IGD tend to have prepubertal testicular volume (i.e., <4 mL), absence of secondary sexual features (e.g., facial and axillary hair growth, deepening of the voice), decreased muscle mass, diminished libido, erectile dysfunction, and infertility. Adult females have little or no breast development and primary amenorrhea. Although skeletal maturation is delayed, the rate of linear growth is usually normal except for the absence of a distinct pubertal growth spurt.|GeneReviews|N|
C1563721|The appearance of carbonyl groups (such as aldehyde or ketone groups) in PROTEINS as the result of several oxidative modification reactions. It is a standard marker for OXIDATIVE STRESS. Carbonylated proteins tend to be more hydrophobic and resistant to proteolysis.|MSH|N|
C1563725|Brenner tumor of borderline malignancy.|MSH|N|
C1563751|Y-linked form of disease.|MONDO|N|
C1564391|The GENETIC RECOMBINATION of the parts of two or more GENES, including an ONCOGENE as at least one of the fusion partners. Such gene fusions are often detected in neoplastic cells and are transcribed into ONCOGENE FUSION PROTEINS.|MSH|N|
C1564568|Infections by MESOMYCETOZOEA, general or unspecified.|MSH|N|
C1565106|Conditions in which the primary symptom is HEADACHE and the headache cannot be attributed to any known causes.|MSH|N|
C1565107|Conditions with HEADACHE symptom that can be attributed to a variety of causes including BRAIN VASCULAR DISORDERS; WOUNDS AND INJURIES; INFECTION; drug use or its withdrawal.|MSH|N|
C1565172|A headache disorder characterized by episodes of unilateral, short lasting pain and associated ipsilateral cranial autonomic symptoms.|NCI|N|
C1565249|Difficulty in walking from place to place.|MSH|N|
C1565489|A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism.|HPO|N|
C1565662|Conditions in which the function of KIDNEYS deteriorates suddenly in a matter of days or even hours. It is characterized by the sudden drop in GLOMERULAR FILTRATION RATE.|MSH|N|
C1565950|A meningioma that affects the posterior cranial fossa.|NCI|N|
C1566590|The need for dialysis within a week of kidney transplant.|NCI|N|
C1567426|A rare congenital anomaly in which one kidney is large, distended by multiple cysts and non-functional. Unilateral multicystic kidney disease is typically asymptomatic if the other kidney is fully functional but may occasionally present with abdominal obstructive signs when the cysts become too large.|SNOMEDCT_US|N|
C1567741|Alport syndrome is a genetic condition characterized by kidney disease, hearing loss, and eye abnormalities.\n\nPeople with Alport syndrome experience progressive loss of kidney function. Almost all affected individuals have blood in their urine (hematuria), which indicates abnormal functioning of the kidneys. Many people with Alport syndrome also develop high levels of protein in their urine (proteinuria). The kidneys gradually lose their ability to efficiently remove waste products from the body, resulting in end-stage kidney disease (ESKD).\n\n\n\nIn late childhood or early adolescence, many people with Alport syndrome develop sensorineural hearing loss, which is caused by abnormalities of the inner ear. Affected individuals may also have misshapen lenses in their eyes (anterior lenticonus) and abnormal coloration of the retina, which is the light-sensitive tissue at the back of the eye. These eye abnormalities seldom lead to vision loss.|MedlinePlus Genetics|N|
C1568247|Usher syndrome type I (USH1) is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa (RP). Unless fitted with a cochlear implant, individuals do not typically develop speech. RP, a progressive, bilateral, symmetric degeneration of rod and cone functions of the retina, develops in adolescence, resulting in progressively constricted visual fields and impaired visual acuity.|GeneReviews|N|
C1568248|Usher syndrome type III is characterized by postlingual, progressive hearing loss, variable vestibular dysfunction, and onset of retinitis pigmentosa symptoms, including nyctalopia, constriction of the visual fields, and loss of central visual acuity, usually by the second decade of life (Karjalainen et al., 1985; Pakarinen et al., 1995).
For a discussion of phenotypic heterogeneity of Usher syndrome, see USH1 (276900).
Genetic Heterogeneity of Usher syndrome Type III
Usher syndrome type IIIB (614504) is caused by mutation in the HARS gene (142810) on chromosome 5q31.3.|OMIM|N|
C1568249|Usher syndrome type II (USH2) is characterized by the following: Congenital, bilateral sensorineural hearing loss that is mild to moderate in the low frequencies and severe to profound in the higher frequencies. Intact or variable vestibular responses. Retinitis pigmentosa (RP); progressive, bilateral, symmetric retinal degeneration that begins with night blindness and constricted visual fields (tunnel vision) and eventually includes decreased central visual acuity; the rate and degree of vision loss vary within and among families.|GeneReviews|N|
C1568272|Clinical syndrome describing overuse tendon injuries characterized by a combination of PAIN, diffuse or localized swelling, and impaired performance.|MSH|N|
C1568363|Chronic degeneration of tendon without inflammation.|SNOMEDCT_US|N|
C1568868|Inflammation of the ORAL MUCOSA.|MSH|N|
C1569637|An adenocarcinoma characterized by the presence of malignant glandular epithelial cells resembling endometrial cells. It can arise from the uterine body, ovary, fallopian tube, cervix, vagina, and uterine ligament.|NCI|N|
C1571130|Binding to tetrahydrodictyopterin, the pterin 2-amino-6-[(1R,2R)-1,2-dihydroxypropyl]-5,6,7,8-tetrahydropteridin-4(3H)-one. [GOC:mah, GOC:vw]|GO|N|
C1571984|Severe mental disorder with onset in MIDDLE AGE, marked by withdrawal, abnormal affect, disturbed intellectual processes, and there may be regression.|MSH|N|
C1578482|An outward deviation of the foot at the talocalcaneal or subtalar joint.|HPO|N|
C1578917|Insulinomatosis and diabetes mellitus syndrome is an autosomal dominant disorder in which affected individuals within a family present with either hyperinsulinemic hypoglycemia secondary to pancreatic neuroendocrine tumors, or a noninsulin-dependent form of diabetes mellitus. A few affected individuals show only impaired glucose tolerance. Some patients also exhibit congenital cataract and/or congenital glaucoma (Iacovazzo et al., 2018).|OMIM|N|
C1608389|Autoimmune myocarditis is an autoimmune disease that affects the heart. The condition is characterized by inflammation of the heart muscle (myocardium). Some people with autoimmune myocarditis have no noticeable symptoms of the condition. When present, signs and symptoms may include chest pain, abnormal heartbeat, shortness of breath, fatigue, signs of infection (i.e. fever, headache, sore throat, diarrhea), and leg swelling. The exact underlying cause of the condition is currently unknown; however, autoimmune conditions, in general, occur when the immune system mistakenly attacks healthy tissue. Treatment is based on the signs and symptoms present in each person. In some cases, medications that suppress the immune system may be recommended.|MONDO|N|
C1608393|Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare congenital disease characterized by massive abdominal distension caused by a largely dilated non-obstructed urinary bladder (megacystis), microcolon and decreased or absent intestinal peristalsis.|ORDO|N|
C1608410|A head tremor of moderate speed (3 to 4 Hz) in the anterior-posterior direction.|HPO|N|
C1608430|**Description:**The medication is being re-prescribed at a different dosage.CHAR(13)|HL7V3.0|N|
C1608954|Leakage of a pharmacologic or a biological substance from the infusion site into the surrounding tissue. Signs and symptoms include induration, erythema, swelling, burning sensation, and pain at the infusion site.|NCI|N|
C1608983|Mal de débarquement (MdD) is a rare otorhinolaryngological disease characterized by a persistent sensation of motion such as rocking, swaying, tumbling and/or bobbing following a period of exposure to passive movement, usually an ocean cruise or other types of water, train, automobile or air travel and less commonly other movements (like sleeping on a waterbed). Onset may be spontaneous in some patients. Manifestations begin shortly after the stimulus, persist for 6 months to years and may be associated with anxiety, fatigue and impaired cognition. Symptoms are often accentuated when in an enclosed space or when attempting to be motionless (sitting, lying down or standing in a stationary position) and are relieved when in passive motion such as in a moving car, airplane or train.|ORDO|N|
C1609433|A bilateral form of agenesis of the kidney.|HPO|N|
C1609481|The word hydrophobia has been used to describe the avoidance of drinking in the presence of hydrophobic spasms that can be observed in human rabies (described as a blockage in the throat with worsening of dyspnea). However, rarely, the same word has been used to describe panic reactions observed in a patient when offered a glass of water. This term does not refer to the latter meaning.|HPO|N|
C1609535|A fungal infection by any of the Candida species in a sterile body compartment.|NCI|N|
C1609538|The asymptomatic presence of Mycobacterium tuberculosis in the body, which is determined by a positive result to a tuberculin skin test or interferon-gamma release assay.|NCI|N|
C1610609|Nail whose growth pattern or speed deviates from normal.|HPO|N|
C1610620|A complication of INTERNAL MAMMARY-CORONARY ARTERY ANASTOMOSIS whereby an occlusion or stenosis of the proximal SUBCLAVIAN ARTERY causes a reversal of the blood flow away from the CORONARY CIRCULATION, through the grafted INTERNAL MAMMARY ARTERY (internal thoracic artery), and back to the distal subclavian distribution.|MSH|N|
C1610624|An infectious process affecting a surgically created opening in the surface of the body.|NCI|N|
C1611184|An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in a coronary artery.|HPO|N|
C1611713|Unexpected increase in cerebral blood flow after carotid endarterectomy or carotid artery stenting presenting with a clinical triad of ipsilateral headache, seizure and focal neurologic symptoms.|NCI|N|
C1611725|A finding indicating the presence of leukemic cell infiltrates in the brain tissue.|NCI|N|
C1619692|A rare disorder characterized by fibrosis of the skin and internal organs. It occurs in patients with renal failure who had imaging studies performed using gadolinium.|NCI|N|
C1619700|Renal hypodysplasia/aplasia belongs to a group of perinatally lethal renal diseases, including bilateral renal aplasia, unilateral renal agenesis with contralateral dysplasia (URA/RD), and severe obstructive uropathy. Renal aplasia falls at the most severe end of the spectrum of congenital anomalies of the kidney and urinary tract (CAKUT; 610805), and usually results in death in utero or in the perinatal period. Families have been documented in which bilateral renal agenesis or aplasia coexists with unilateral renal aplasia, renal dysplasia, or renal aplasia with renal dysplasia, suggesting that these conditions may belong to a pathogenic continuum or phenotypic spectrum (summary by Joss et al., 2003; Humbert et al., 2014).
Genetic Heterogeneity of Renal Hypodysplasia/Aplasia
See also RHDA2 (615721), caused by mutation in the FGF20 gene (605558) on chromosome 8p22; RHDA3 (617805), caused by mutation in the GREB1L gene (617782) on chromosome 18q11; and RHDA4 (619887), caused by mutation in the GFRA1 gene (601496) on chromosome 10q25.|OMIM|N|
C1619702|An infectious disorder caused by the use of a medical device.|NCI|N|
C1619711|Telangiectasia affecting the gastrointestinal tract.|HPO|N|
C1619712|Pain associated with examination, treatment or procedures.|MSH|N|
C1619738|An inflammatory condition that arises after initiating antiretroviral therapy (ART) therapy in HIV-infected patients that results from restored immunity to specific infectious or non-infectious antigens.|MONDO|N|
C1621327|Compounds that bind to and inhibit the action of ADENYLYL CYCLASES.|MSH|N|
C1621469|A protein that plays a role in the regulation of ubiquitination of other proteins and, subsequently, modulates the targeting of proteins for degradation by the proteasome.|NCI|N|
C1621719|A variant of peripheral T-cell lymphoma, not otherwise specified. It is characterized by the presence of neoplastic small lymphocytes infiltrating the lymph nodes in a diffuse and less frequently interfollicular pattern. There is an associated proliferation of epithelioid histiocytes forming confluent clusters.|NCI|N|
C1621860|A mental state of reduced level of consciousness, with decreased response to stimuli, including pain.|NCI|N|
C1621895|Enlargement of the adrenal gland.|HPO|N|
C1621920|Intermediate maple syrup urine disease (intermediate MSUD) is a milder form of MSUD (see this term) characterized by persistently raised branched-chain amino acids (BCAAs) and ketoacids, but fewer or no acute episodes of decompensation.|ORDO|N|
C1621958|A tumor arising from glia in the central nervous system with macroscopic regions of necrosis and hemorrhage. Microscopically, glioblastoma multiforme is characterized by regions of pseudopalisading necrosis, pleomorphic nuclei and cells, and microvascular proliferation.|HPO|N|
C1622345|The Finnish type of systemic amyloidosis is characterized clinically by a unique constellation of features including lattice corneal dystrophy, and cranial neuropathy, bulbar signs, and skin changes. Some patients may develop peripheral neuropathy and renal failure. The disorder is usually inherited in an autosomal dominant pattern; however, homozygotes with a more severe phenotype have also been reported (Meretoja, 1973).|OMIM|N|
C1622427|Central cloudy dystrophy of François is a very rare form of stromal corneal dystrophy (see this term) characterized by polygonal or rounded stromal opacities surrounded by clear tissue, and generally no effect on vision.|ORDO|N|
C1622439|Exaggerated curvature of the lens of the eye, producing an anterior or posterior spherical bulging.|HPO|N|
C1622502|A nutritional cirrhosis that is characterized by an increase in connective tissue surrounding the portal spaces.|NCI|N|
C1622510|A benign brain tumor composed of neural elements which most often arise from the septum pellucidum and the walls of the lateral ventricles.|HPO|N|
C1622814|An antiquated term for a diffuse B-or T-cell lymphoma composed of small cleaved lymphocytes, occurring in adults.|NCI|N|
C1623036|Specific degradation of a protein - involving conjugation, transport, oxidation, and proteolysis - involved in signal transduction or cell communication events; not to be confuse with proteolysis, which applies only to peptide bond hydrolysis. (NCI)|NCI|N|
C1623040|The process of feeding a mother''s breast milk to her infant, either directly from the breast or by expressing (pumping out) the milk from the breast and bottle-feeding it to the infant.|SNOMEDCT_US|N|
C1623209|SALL4-related disorders include Duane-radial ray syndrome (DRRS, Okihiro syndrome), acro-renal-ocular syndrome (AROS), and SALL4-related Holt-Oram syndrome (HOS) – three phenotypes previously thought to be distinct entities. DRRS is characterized by uni- or bilateral Duane anomaly and radial ray malformation that can include thenar hypoplasia and/or hypoplasia or aplasia of the thumbs, hypoplasia or aplasia of the radii, shortening and radial deviation of the forearms, triphalangeal thumbs, and duplication of the thumb (preaxial polydactyly). AROS is characterized by radial ray malformations, renal abnormalities (mild malrotation, ectopia, horseshoe kidney, renal hypoplasia, vesicoureteral reflux, bladder diverticula), ocular coloboma, and Duane anomaly. Rarely, pathogenic variants in SALL4 may cause clinically typical HOS (i.e., radial ray malformations and cardiac malformations without additional features).|GeneReviews|N|
C1624730|The status associated with the result or conclusion of the event.|NCI|N|
C1627365|Littoral cell angioma is a rare primary vascular neoplasm of the spleen, composed of littoral cells that line the splenic sinuses of the red pulp. It was thought to be a benign, incidental lesion. However, many recent reports have described it to be a malignant lesion with congenital and immunological associations. The definitive diagnosis can only be made after histology and immunohistochemistry studies.|MONDO|N|
C1627767|A rare variant of mycosis fungoides (MF), a form of cutaneous T-cell lymphoma, characterized by the presence of folliculotropic infiltrates in patch-plaque lesions usually involving the head and neck area.|ORDO|N|
C1627773|A palpable change in the tissues of the body away from their normal state.|SNOMEDCT_US|N|
C1629036|Pelvic rotation about an anterior-posterior (A-P) axis.|SNOMEDCT_US|N|
C1629609|The age at which permanent cessation of menses occurs.|NCI|N|
C1630403|A circumferential measurement of the neck, just below the larynx.|NCI|N|
C1630645|Hypersensitivity in form of an adverse immune reaction against alpha-gal.|HPO|N|
C1631597|Catecholaminergic polymorphic ventricular tachycardia (CPVT) is characterized by episodic syncope occurring during exercise or acute emotion. The underlying cause of these episodes is the onset of fast ventricular tachycardia (bidirectional or polymorphic). Spontaneous recovery may occur when these arrhythmias self-terminate. In other instances, ventricular tachycardia may degenerate into ventricular fibrillation and cause sudden death if cardiopulmonary resuscitation is not readily available. The mean onset of symptoms (usually a syncopal episode) is between age seven and 12 years; onset as late as the fourth decade of life has been reported. If untreated, CPVT is highly lethal, as approximately 30% of affected individuals experience at least one cardiac arrest and up to 80% have one or more syncopal spells. Sudden death may be the first manifestation of the disease.|GeneReviews|N|
C1636149|Macular corneal dystrophy (MCD) is an autosomal recessive disorder in which progressive punctate opacities in the cornea result in bilateral loss of vision, eventually necessitating corneal transplantation. MCD is classified into 2 subtypes, type I and type II, defined by the respective absence and presence of sulfated keratan sulfate in the patient serum, although both types have clinically indistinguishable phenotypes (summary by Akama et al., 2000).|OMIM|N|
C1636155|An allergic reaction to an allergen substance derived from a non-food plant, rather than a reaction to the plant organism itself.|SNOMEDCT_US|N|
C1640363|An infectious disease where a pathogen is carried and transmitted by another organism that acts as disease vector.|MONDO|N|
C1641846|Groenouw type I, or granular type I, corneal dystrophy (CDGG1) is an autosomal dominant disorder characterized by irregular aggregates of hyaline material in the corneal stroma. These aggregates can cause significant visual disturbance and may require corneal transplantation for restoration of visual acuity or for relief from recurrent corneal erosions (summary by Stone et al., 1994).|OMIM|N|
C1642390|While performing an assessment of the eyes, the examiner notes whether the pupils are equal, round, and reactive to light. If all findings are normal, the abbreviation PERRL is noted in the examiner''s account of the physical examination.|NCI|N|
C1644176|A benign or malignant neoplasm that affects the lacrimal drainage system.|NCI|N|
C1644196|The spectrum of ADAMTSL4-related eye disorders is a continuum that includes the phenotypes known as "autosomal recessive isolated ectopia lentis" and "ectopia lentis et pupillae" as well as more minor eye anomalies with no displacement of the pupil and very mild displacement of the lens. Typical eye findings are dislocation of the lens, congenital abnormalities of the iris, refractive errors that may lead to amblyopia, and early-onset cataract. Increased intraocular pressure and retinal detachment may occur on occasion. Eye findings can vary within a family and between the eyes in an individual. In general, no additional systemic manifestations are observed, although skeletal features have been reported in a few affected individuals.|GeneReviews|N|
C1644719|A primary or metastatic malignant neoplasm involving the urinary system.|NCI|N|
C1654921|The presence of moderately increased concentrations of albumin in the urine, defined as and albumin-creatinine ratio (ACR) of 30 to 299 mg/gm (3.4 to 34 mg/mmol).|HPO|N|
C1656427|A rare neurologic disease characterised by an early onset of positive and negative symptoms of psychosis that impact development and cognitive functioning. Clinical manifestations commonly include premorbid features of autism spectrum disorders, attention deficits, neurodevelopmental delays, and behavioural abnormalities. After the onset of psychotic symptoms, other comorbidities are also common, including obsessive-compulsive disorder, major depressive disorder, attention deficit hyperactivity disorder, expressive and receptive language disorders, auditory processing deficits and executive functioning deficits.|SNOMEDCT_US|N|
C1657106|A drug implant that acts as a birth control device and which is inserted under the skin for drug delivery into the body.|NCI|N|
C1659543|Measurement of relative composition of different BREAST tissue types often determined from MAMMOGRAPHY; ULTRASONOGRAPHY; or MRI.|MSH|N|
C1660792|A sensation of tightness in a toe joint when attempting to move it, especially after a period of inactivity.|HPO|N|
C1662979|Painful sensation in the peritoneum.|NCI|N|
C1688635|A response indicating that an individual is or has been unhappy.|NCI|N|
C1688637|A disorder which occurs during cataract surgery following administration at some time in the past (potentially years) of a substance with alpha-1 adrenergic receptor antagonist mechanism of action. Progressive pupil constriction is seen together with a flaccid iris that billows and prolapses towards the surgical incision.|SNOMEDCT_US|N|
C1689817|A cardiomyopathy that is not due to abnormalities in heart muscle cells.|MONDO|N|
C1690006|Lattice corneal dystrophy type I (CDL1) is an autosomal dominant condition characterized by deposition of amyloid in the corneal stroma. Onset occurs in the first or second decade of life and progresses over time. The anterior stroma has rod-like or linear opacities. Recurrent erosions are common and central anterior stromal haze may develop with age. The lesions usually affect the anterior and central corneas, leaving a relatively normal periphery (summary by Lin et al., 2016).|OMIM|N|
C1691020|A disease or disorder that involves the eosinophil.|MONDO|N|
C1691215|Location of the urethral opening on the inferior aspect of the penis.|HPO|N|
C1691228|A congenital or acquired kidney disorder characterized by the presence of renal cysts.|NCI|N|
C1691779|Hearing loss caused by damage to the cochlea in the inner ear.|NCI|N|
C1692321|A morphological finding where an influx of cells is detected in locations or numbers that those cells are not normally found.|NCI|N|
C1692886|The inflammation of one or more joints caused by a bacterial infection within the joint space. Symptoms include pain, stiffness, and decreased range of motion in the affected joint.|NCI|N|
C1695984|A piece of food that has gotten stuck in the esophagus and prevents further swallowing.|HPO|N|
C1695985|Lewis-Sumner syndrome (LSS) is a rare acquired demyelinating polyneuropathy characterized by asymmetrical distal weakness of the upper or lower extremities and motor dysfunction with adult onset. It is considered to be a variant of chronic inflammatory demyelinating polyneuropathy.|ORDO|N|
C1696082|A necrotic process affecting the peritoneum.|NCI|N|
C1696083|An abnormal communication between the oral cavity and the adjacent tissues.|NCI|N|
C1696085|Accumulation of an excessive amount of watery fluid in the visceral tissues. Symptoms include abdominal pain, nausea, vomiting, and diarrhea.|NCI|N|
C1696086|An opening in the prostate gland due to traumatic or pathologic processes.|NCI|N|
C1696087|An abnormal communication between the uterus and another organ.|NCI|N|
C1696109|Germ cell tumors of the central nervous system other than germinoma. This category includes teratoma, choriocarcinoma, embryonal carcinoma, and yolk sac tumor.|NCI|N|
C1696113|Blockage of the uterine outlet. Causes include uterine tumors and adhesions.|NCI|N|
C1696155|A rupture in the vaginal wall due to traumatic or pathologic processes.|NCI|N|
C1696466|The presence of abnormal calcium deposition in the liver.|HPO|N|
C1696701|Repetitive and compulsive picking of skin which results in tissue damage.|HPO|N|
C1696702|Leakage due to breakdown of a pharyngeal anastomosis.|NCI|N|
C1696704|Bleeding originating from the ovary.|NCI|N|
C1696706|A rupture in the wall of the ureter due to traumatic or pathologic processes.|NCI|N|
C1696708|Average of two or more properly measured readings at each of two or more visits after an initial screen with a systolic 120 to 139 mmHg or diastolic 80 to 89 mmHg.|SNOMEDCT_US|N|
C1696945|An excessive reaction to stress caused by one''s environment that may be characterized by feelings of emotional and physical exhaustion, coupled with a sense of frustration and failure.|MSH|N|
C1697250|A rupture through the testicular tissue.|NCI|N|
C1697453|Spontaneous development of hematomas (hematoma) or bruises without significant trauma.|HPO|N|
C1697746|Blockage of the normal flow of the intestinal contents in the rectum.|NCI|N|
C1697747|Bleeding originating from the larynx.|NCI|N|
C1697748|A bacterial or viral infectious process affecting an artery.|NCI|N|
C1697749|An infectious process affecting a cranial nerve.|NCI|N|
C1697750|Narrowing or stricture of the spermatic cord.|NCI|N|
C1697751|A rupture in the wall of the urethra due to traumatic or pathologic processes.|NCI|N|
C1697788|A lung function test result in which the lung capacity to absorb carbon monoxide is decreased.|NCI|N|
C1697884|A necrotic process involving the esophageal wall.|NCI|N|
C1697918|An adenocarcinoma that arises from the breast and has metastasized to another anatomic site.|NCI|N|
C1697974|Leakage of urine due to breakdown of a bladder anastomosis.|NCI|N|
C1697976|Abnormally low testosterone production; possibly due to testicular dysfunction (primary hypogonadism) or hypothalamic-pituitary dysfunction (secondary hypogonadism) and may be congenital or acquired.|SNOMEDCT_US|N|
C1697980|A necrotic process involving the rectal wall.|NCI|N|
C1697981|A necrotic process involving the area of the anus.|NCI|N|
C1697984|Blockage of the urostomy.|NCI|N|
C1698036|An infectious process affecting the small intestine.|NCI|N|
C1698038|A reduction in the strength of the muscles in the left side of the body.|NCI|N|
C1698039|Leakage due to breakdown of a fallopian tube anastomosis.|NCI|N|
C1698040|Decreased flexibility of a cervical spine joint.|NCI|N|
C1698088|A malignant neoplasm arising from tissues that do not include fluid areas. Representative examples include carcinomas and sarcomas. Hematopoietic and lymphoid tissue malignancies are not considered solid neoplasms.|NCI|N|
C1698096|Displacement of the urostomy.|NCI|N|
C1698193|Leakage of contents from a urostomy.|NCI|N|
C1698194|Leakage due to breakdown of a vaginal anastomosis.|NCI|N|
C1698195|Leakage due to breakdown of a small intestinal anastomosis.|NCI|N|
C1698196|Weakness of the muscles of the arms.|HPO|N|
C1698481|An infectious process affecting the oral cavity, pharynx, and/or larynx.|NCI|N|
C1698484|An acute or chronic infectious process affecting a mucosal surface.|NCI|N|
C1698511|Leakage due to breakdown of a rectal anastomosis.|NCI|N|
C1698581|Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a disorder that mainly affects the female reproductive system. This condition causes the vagina and uterus to be underdeveloped or absent, although external genitalia are normal. Affected individuals usually do not have menstrual periods due to the absence of a uterus. Often, the first noticeable sign of MRKH syndrome is that menstruation does not begin by age 16 (primary amenorrhea). People with MRKH syndrome have a female chromosome pattern (46,XX) and normally functioning ovaries. They also have normal breast and pubic hair development. Although people with this condition are usually unable to carry a pregnancy, they may be able to have children through assisted reproduction.\n\nWhen only reproductive organs are affected, the condition is classified as MRKH syndrome type 1. Some individuals with MRKH syndrome  also have abnormalities in other parts of the body; in these cases, the condition is classified as MRKH syndrome type 2. In this form of the condition, the kidneys may be abnormally formed or positioned, or one kidney may fail to develop (unilateral renal agenesis). Affected individuals commonly develop skeletal abnormalities, particularly of the spinal bones (vertebrae). People with MRKH syndrome type 2 may also have hearing loss or heart defects.|MedlinePlus Genetics|N|
C1698626|An inflammatory process affecting the mucous membrane of the small intestine.|NCI|N|
C1698628|Hemorrhage from the urostomy site.|NCI|N|
C1698629|An infectious process affecting the duodenum.|NCI|N|
C1698634|A necrotic process affecting the soft tissues of the upper extremity.|NCI|N|
C1698635|Impaired functioning of the upper extremity.|NCI|N|
C1698666|An acute or chronic infectious process affecting the lips.|NCI|N|
C1698668|A necrotic process affecting the soft tissues of the lower extremity.|NCI|N|
C1698669|Fibrotic degeneration of the superficial soft tissues.|NCI|N|
C1698675|Leakage due to breakdown of a ureteral anastomosis.|NCI|N|
C1698676|Narrowing of the lumen of the vas deferens.|NCI|N|
C1698678|A necrotic process affecting the post-operative stoma area in the gastrointestinal tract.|NCI|N|
C1698768|An inflammatory process affecting the mucous membrane of the larynx.|NCI|N|
C1698769|Narrowing of the opening of a urostomy.|NCI|N|
C1699136|An inflammatory process affecting the mucous membrane of the stomach.|NCI|N|
C1699140|An inflammatory process affecting the mucous membrane of the large intestine.|NCI|N|
C1699141|An intestinal stoma complication characterized by protrusion of the intestine above the abdominal surface.|NCI|N|
C1699142|Bleeding originating in the cecum.|NCI|N|
C1699177|Narrowing of the lumen of a gastrointestinal stoma.|NCI|N|
C1699181|A reduction in the strength of the muscles in the right side of the body.|NCI|N|
C1699182|Decreased flexibility of a lumbar spine joint.|NCI|N|
C1699207|Leakage due to breakdown of a urethral anastomosis.|NCI|N|
C1699324|An inflammatory process affecting the mucous membrane of the pharynx.|NCI|N|
C1699325|A perforation in the anatomic parts which are used in the construction of a urostomy.|NCI|N|
C1699326|Leakage due to breakdown of a vas deferens anastomosis.|NCI|N|
C1699327|Leakage due to breakdown of a large intestinal anastomosis.|NCI|N|
C1699328|Leakage due to breakdown of a spermatic cord anastomosis.|NCI|N|
C1699329|An inflammatory process affecting the mucous membrane of the trachea.|NCI|N|
C1699561|An infectious process affecting the vulva. Causative agents include human papillomavirus, herpes virus, Trichomonas, and Candida. Symptoms include itching and pain in the genital area and discharge.|NCI|N|
C1699588|An abnormal communication between the larynx and another organ or cavity.|NCI|N|
C1699648|Blockage of the normal flow of the small intestinal contents in the ileum.|NCI|N|
C1699653|An inflammatory process affecting the mucous membrane of the anus.|NCI|N|
C1699654|An inflammatory process affecting the mucous membrane of the esophagus.|NCI|N|
C1699655|An abnormal communication between the ileum and another organ or cavity.|NCI|N|
C1699657|Bleeding from the tracheostomy site.|NCI|N|
C1699694|An infectious process affecting the cecum.|NCI|N|
C1699695|A necrotic process occurring in the soft tissues of the abdominal wall.|NCI|N|
C1699736|Leakage of urine due to breakdown of a kidney anastomosis.|NCI|N|
C1699812|Leakage due to breakdown of a uterine anastomosis.|NCI|N|
C1701938|Pulmonary hypertension that results from another disorder (e.g., connective tissue disorder).|NCI|N|
C1701940|Serious INFLAMMATION of the LUNG in patients who required the use of PULMONARY VENTILATOR. It is usually caused by bacterial CROSS INFECTION in hospitals.|MSH|N|
C1704202|A condition characterized by the complete absence of SEMEN. This disorder should be differentiated from AZOOSPERMIA, absence of sperm in the semen.|MSH|N|
C1704212|A mass of clotted blood or other formed elements, such as bubbles of air, calcium fragments, etc. brought by the blood from another vessel and forced into a smaller one, thus obstructing the circulation.|NCI|N|
C1704214|Yellow nodules of lipoid material are deposited in the skin and mucosae. This gives rise to granulomatous reactions.|HPO|N|
C1704216|A malignant epithelial neoplasm characterized by the presence of neoplastic cells with hyperchromatic nuclei, small amount of cytoplasm, and peripheral nuclear palisading.|NCI|N|
C1704219|A benign but locally infiltrating neoplasm arising from tooth-forming tissues. It is more often intraosseous and less frequently extraosseous and occurs in the jaw. It is characterized by the presence of ameloblastoma-like epithelium, connective tissue stroma, ghost cells, and dysplastic dentin. Wide local resection is recommended for intraosseous neoplasms and enucleation for extraosseous neoplasms.|NCI|N|
C1704220|A rare, locally aggressive neoplasm arising from tooth-forming tissues. It occurs in the mandible and maxilla. It is characterized by the presence of odontogenic epithelium and adjacent myxoid tissue, fibrous stroma, and mineralized dental tissues.|NCI|N|
C1704228|An adenocarcinoma arising from the follicular cells of the thyroid gland.|NCI|N|
C1704231|A malignant neoplasm that has spread from its original site of growth to the leptomeninges.|NCI|N|
C1704236|Perifollicular fibroma is a rare cutaneous hamartoma that shows differentiation in the connective tissue sheath of hair follicles. It can occur as a solitary papule or as multiple lesions. Histologically, the lesion consists of a concentric arrangement of cellular fibrous tissue around a normal hair follicle.|HPO|N|
C1704237|A small benign fibrovascular tumor of the dermal part of the hair disk. Trichodiscoma is rather simple in appearance and consists of a dome-shaped fibrous tumor with a prominent vascular component that fills the papillary dermis under an atrophic epidermis. As in a normal hair disk, a hair follicle may be present at one edge of the papular lesion.|HPO|N|
C1704251|A lymphoma that arises from the breast. There is no history of extramammary breast lymphoma and ipsilateral axillary lymph node involvement does not exclude the diagnosis of primary breast lymphoma. Most patients present with a painless breast lump. The vast majority of cases are B-cell non-Hodgkin lymphomas. Diffuse large B-cell lymphoma, follicular lymphoma, and extranodal marginal zone B-cell lymphoma of mucosa associated lymphoid tissue are the most common types of primary non-Hodgkin lymphoma of the breast. Primary Hodgkin lymphoma of the breast is rare.|NCI|N|
C1704257|Any alteration in the inherited nucleic acid sequence of the genotype of an organism.|NCI|N|
C1704258|A condition that differs from the usual physical or mental state.|NCI|N|
C1704259|A series of biochemical reactions which occurs in a known sequence and can result in all or part of the initiation, progression or completion of a biological process or function.|NCI|N|
C1704268|False beliefs or perceptions in which a person believes that they are being treated with malicious intent, hostility, or harassment - despite significant evidence to suggest otherwise.|HPO|N|
C1704272|Benign prostatic hyperplasia (BPH) refers to the nonmalignant growth of the prostate gland, and is histologically defined as hyperplasia of the prostate gland. BPH is an age-related phenomenon in men beginning at about age 40 years. BPH may result in prostatic enlargement and clinical symptoms most commonly affecting the lower urinary tract. These symptoms may be obstructive, including hesitancy, weak flow, and urinary retention, or irritative, including increased frequency and urgency. However, not all men with histologic BPH will develop prostatic enlargement or urinary symptoms (review by Roehrborn, 2005).|OMIM|N|
C1704273|A benign nodular lesion protruding above the surface of the endometrium. It is composed of a fibrous stroma that contains thick-walled blood vessels and dilated endometrial glands. Polypectomy is the treatment of choice. Only few cases with recurrence have been reported.|NCI|N|
C1704291|A usually aggressive malignant bone-forming mesenchymal neoplasm arising from the bone. It usually involves the long bones and predominantly affects adolescents and young adults. Pain and a palpable mass are the most frequent clinical sign and symptom. It may spread to other anatomic sites, particularly the lungs.|NCI|N|
C1704299|An autosomal dominant disorder of lipid metabolism. It is caused by mutations of APOLIPOPROTEINS B, main components of CHYLOMICRONS and BETA-LIPOPROTEINS (low density lipoproteins or LDL). Features include abnormally low LDL, normal triglyceride level, and dietary fat malabsorption.|MSH|N|
C1704300|Abortion brought on intentionally.|NCI|N|
C1704317|Leukoplakic lesions related to abnormal keratin fiber formation.|MSH|N|
C1704321|A renal functional disorder characterized by proteinuria, edema, hyperlipidemia and hypoalbuminemia. It results from damage to the renal vascular filtration apparatus. It is further characterized by an inflammatory reaction in the glomerular capillaries and the effacement of the surrounding epithelial cell foot processes worsening protein leakage. Sequelae may include hypertension, atherosclerosis, infection, hypercoagulablity and renal failure.|NCI|N|
C1704323|Paget disease of the nipple describes a rare presentation of breast cancer, seen most frequently in women aged 50-60, manifesting with nipple drainage and itching, erythema, crusty and excoriated nipple, thickened plaques, and hyperpigmentation (less frequently). It is due to tumor cells invading the nipple-areola complex and represents 1-3% of all new breast cancer diagnoses.|ORDO|N|
C1704327|A sarcoma that arises from the bone. Representative examples are osteosarcoma and chondrosarcoma.|NCI|N|
C1704328|A conventional osteosarcoma characterized by the predominance of osteoid matrix.|NCI|N|
C1704330|A non-neoplastic or neoplastic (benign or malignant) disorder affecting the teeth.|NCI|N|
C1704334|A benign sweat gland cystic lesion that arises from the dermis. It is lined by a thin epithelial layer of cells with a slightly eosinophilic cytoplasm.|NCI|N|
C1704335|A cystic lesions that forms a benign tumor of an apocrine sweat gland.|HPO|N|
C1704356|A solitary, benign, intramedullary cartilage tumor that is often found in the short tubular bones of the hands and feet, distal femur, and proximal humerus.|HPO|N|
C1704373|Disorder characterized by an emotionally constricted manner that is unduly conventional, serious, formal, and stingy, by preoccupation with trivial details, rules, order, organization, schedules, and lists, by stubborn insistence on having things one''s own way without regard for the effects on others, by poor interpersonal relationships, and by indecisiveness due to fear of making mistakes.|MSH|N|
C1704375|Rickets due to low serum phosphate concentrations, the cause of which can be nutritional or genetic. This condition is characterized by normal parathyroid hormone concentrations, usually caused by renal phosphate wasting occurring in isolation or as part of a renal tubular disorder, and characterized by resistance to treatment with ultraviolet radiation or vitamin D.|NCI|N|
C1704376|Carcinosarcoma of the corpus uteri is a rare, malignant, mixed epithelial and mesenchymal tumor of the uterine body composed of high-grade carcinomatous and sarcomatous elements. It may present with vaginal bleeding, abnormal vaginal discharge, abdominal pain and/or pelvic mass, with a polypoid tumor sometimes protruding through the cervical canal. Association with Tamoxifen therapy, long-term unopposed estrogen use and previous pelvic radiotherapy has been reported.|ORDO|N|
C1704377|A historical classification which is no longer used. It described acute glomerulonephritis, acute nephritic syndrome, or acute nephritis. Named for Richard Bright.|MSH|N|
C1704378|An experimental rat model of human membranous nephropathy characterized by complement activation and formation of subepithelial immune deposits in the glomerular capillary wall.|MSH|N|
C1704380|A type of renal tubular acidosis characterized by a failure of acid secretion by the alpha intercalated cells of the cortical collecting duct of the distal nephron. The urine cannot be acidified below a pH of 5.3, associated with acidemia and hypokalemia.|HPO|N|
C1704383|A rare non-Hodgkin or Hodgkin lymphoma that arises in and is confined to the lung at the time of diagnosis.|NCI|N|
C1704399|A gastrointestinal stromal tumor that is characterized by a maximum diameter greater than 5 cm and equal or less than 10 cm (gastric localization), or greater than 2 cm and equal or less than 5 cm (intestinal localization) and no more than 5 mitotic figures per 50 high power fields.|NCI|N|
C1704408|A description of the life cycle of the West Nile virus.|NCI|N|
C1704417|Familial hypercholesterolemia (FH) is characterized by significantly elevated low-density lipoprotein cholesterol (LDL-C) that leads to atherosclerotic plaque deposition in the coronary arteries and proximal aorta at an early age and increases the risk of premature cardiovascular events such as angina and myocardial infarction; stroke occurs more rarely. Xanthomas (cholesterol deposits in tendons) may be visible in the Achilles tendons or tendons of the hands and worsen with age as a result of extremely high cholesterol levels. Xanthelasmas (yellowish, waxy deposits) can occur around the eyelids. Individuals with FH may develop corneal arcus (white, gray, or blue opaque ring in the corneal margin as a result of cholesterol deposition) at a younger age than those without FH. Individuals with a more severe phenotype, often as a result of biallelic variants, can present with very significant elevations in LDL-C (>500 mg/dL), early-onset coronary artery disease (CAD; presenting as early as childhood in some), and calcific aortic valve disease.|GeneReviews|N|
C1704421|A disorder of the skin characterized by loss or reduction of the skin color. It is caused by loss of melanocytes or abnormalities in melanin production.|NCI|N|
C1704423|Primary lymphedema is caused by anatomic or functional defects in the lymphatic system, resulting in chronic swelling of body parts. There may be accompanying nail and skin changes, such as nail dysplasia or papillomatosis. Onset is usually at birth or in early childhood but can occur later, and the severity is variable (summary by Gordon et al., 2013 and Balboa-Beltran et al., 2014).
Genetic Heterogeneity of Lymphatic Malformation
Primary lymphedema is genetically heterogeneous: see also LMPHM2 (611944), which maps to chromosome 6q16.2-q22.1; LMPHM3 (613480), caused by mutation in the GJC2 gene (608803) on chromosome 1q42; LMPHM4 (615907), caused by mutation in the VEGFC gene (601528) on chromosome 4q34; LMPHM5 (153200); LMPHM6 (616843), caused by mutation in the PIEZO1 gene (611184) on chromosome 16q24; LMPHM7 (617300), caused by mutation in the EPHB4 gene (600011) on chromosome 7q22; LMPHM8 (618773), caused by mutation in the CALCRL gene (114190) on chromosome 2q31; LMPHM9 (619319), caused by mutation in the CELSR1 gene (604523) on chromosome 22q13; LMPHM10 (610369), caused by mutation in the ANGPT2 gene (601922) on chromosome 8p23; LMPHM11 (619401), caused by mutation in the TIE1 gene (600222) on chromosome 1p34; LMPHM12 (620014), caused by mutation in the MDFIC gene (614511) on chromosome 7q31; LMPHM13 (620244), caused by mutation in the THSD1 gene (616821) on chromosome 13q14; and LMPHM14 (620602), caused by mutation in the ERG gene (165080) on chromosome 21q22.
Lymphedema can also be a feature of syndromic disorders such as lymphedema-distichiasis syndrome (153400), which is caused by mutation in the FOXC2 gene (602402), and various forms of nonimmune hydrops fetalis (NIHF; see 236750).|OMIM|N|
C1704424|Meige disease is a frequent form of late-onset, primary lymphedema characterized by lower limb lymphedema typically developing during puberty.|ORPHANET|N|
C1704427|A syndrome which occurs in individuals with a history of alcohol abuse. It is caused by prolonged alcohol-induced neurological damage and malnutrition including vitamin and electrolyte deficiencies. Clinical signs include altered mental status, visual impairment and decreased muscle coordination. The clinical course varies and is, in part, dependent upon the severity of symptoms at presentation. The prognosis is poor and worsens if alcohol abuse continues.|NCI|N|
C1704429|Twenty to 30% of early familial coronary heart disease (CHD) is ascribed to hypoalphalipoproteinemia, or high density lipoprotein deficiency. Although not initially recognized as a predisposing dyslipidemia, extensive epidemiologic work has implicated low high-density lipoprotein cholesterol (HDLC) levels in increased risk of cardiovascular disease, and low HDLC is considered to be a true dyslipidemic syndrome (Warnick and Wood, 1995).
Genetic Heterogeneity of Primary Hypoalphalipoproteinemia
Primary hypoalphalipoproteinemia-2 (618463) and intermediate primary hypoalphalipoproteinemia-2 (619836) are caused by mutation in the APOA1 gene (107680) on chromosome 11q23.|OMIM|N|
C1704430|A bladder infection that occurs as a manifetation of a systemic infection with one or more species of the parasitic worms of the Schistosoma type; this can progress to bladder cancer in time.|MONDO|N|
C1704431|Abnormality of the homeostasis (concentration) of a monoatomic ion.|HPO|N|
C1704436|A disorder of the arteries supplying the upper and lower extremity and the visceral organs. This includes the mesenteric arteries, the renal arteries and the aorta and excludes cerebrovascular arterial disease. Patients experience cramping and pain usually in the calves and thighs while walking. The symptoms subside with rest.|NCI|N|
C1704453|A benign neoplasm with exophytic and endophytic growth arising from the lateral nasal wall or the paranasal sinuses. It is characterized by the proliferation of columnar cells with oncocytic features. Microcysts containing mucin and neutrophils are present in the epithelium. Clinical manifestations include nasal obstruction and epistaxis. Occasionally, it is associated with the development or presence of a carcinoma, usually squamous cell carcinoma.|NCI|N|
C1704495|Sphenoid and occiput have rotated in the same direction around parallel transverse axes. Vertical strains of the SBS are named for the position of the basisphenoid, superior or inferior.|AOT|N|
C1704496|Sphenoid and occiput have rotated in opposite directions around an anterior-posterior (A-P) axis. SBS torsions are named for the high greater wing of the sphenoid, right or left.|AOT|N|
C1704499|Sphenoid and occiput have rotated in opposite directions around parallel transverse axes; the basiocciput and basisphenoid are both superior in SBS flexion with an increase in the dorsal convexity between these two bones.|SNOMEDCT_US|N|
C1704516|The finding of alternating fascial motion preference in the direction opposite that of the common compensatory pattern.|SNOMEDCT_US|N|
C1704549|Impaired or altered function of the lower extremity.|AOT|N|
C1704597|Deviation of the pelvis to the right or left of the central vertical axis as translation occurs along the horizontal (z) axis.|SNOMEDCT_US|N|
C1704606|Sphenoid and occiput have rotated in opposite directions around parallel vertical axes and rotate in the same direction around an anterior-posterior (A-P) axis. SBS sidebending-rotations are named for the convexity, right or left.|SNOMEDCT_US|N|
C1704613|A rare primary carcinoma of the thyroid gland, composed of groups of carcinoma cells with thymic epithelial differentiation.|NCI|N|
C1704615|An undifferentiated pleomorphic sarcoma usually arising from the left atrium of the heart. It is characterized by the presence of fibrohistiocytic cells, giant cells, and spindle cells arrranged iin a storiform pattern. Clinical presentation includes signs and symptoms associated with left atrial hemodynamic changes.|NCI|N|
C1704616|A rare malignant mesenchymal tumor with skeletal muscle differentiation arising within the myocardium. It is characterized by the presence of small round spindle cells. Most cardiac rhabodomyosarcomas are of embryonal type and usually present in children and young adults.|NCI|N|
C1704632|The pathologic and/or clinical changes that result from treatment. The changes may include eradication of detectable disease, stabilization of disease, or disease progression.|NCI|N|
C1704808|Lobular Cancerization (or cancerization of lobules, COL) is the presence in a lobule of ductal carcinoma in situ (DCIS) tumor cells with preservation of the normal lobular pattern. It appears to represents a variation in the growth pattern of DCIS, not secondary extension of DCIS into a lobule.|NCI|N|
C1704981|The spectrum of CDC73-related disorders includes the following phenotypes: Hyperparathyroidism-jaw tumor (HPT-JT) syndrome. Primary hyperparathyroidism, the main finding of HPT-JT syndrome, occurs in up to 95% of affected individuals; onset is typically in late adolescence or early adulthood. HPT-JT-associated primary hyperparathyroidism is usually caused by a single parathyroid adenoma. In approximately 10%-15% of individuals, primary hyperparathyroidism is caused by parathyroid carcinoma. Ossifying fibromas of the mandible or maxilla, also known as cementifying fibromas and cemento-ossifying fibromas, occur in 30%-40% of individuals with HPT-JT syndrome. Although benign, these tumors can be locally aggressive and may continue to enlarge if not treated. Approximately 20% of individuals with HPT-JT syndrome have kidney lesions, most commonly cysts; renal hamartomas and (more rarely) Wilms tumor have also been reported. Benign and malignant uterine tumors appear to be common in women with HPT-JT syndrome. Parathyroid carcinoma. Most parathyroid carcinomas are functional, resulting in hyperparathyroidism and a high serum calcium level; however, nonfunctioning parathyroid carcinomas are also rarely described in individuals with a CDC73-related disorder. A germline CDC73 pathogenic variant has been identified in 20%-29% of individuals with apparently sporadic parathyroid carcinoma. Familial isolated hyperparathyroidism (FIHP). FIHP is characterized by primary hyperparathyroidism without other associated syndromic features. Individuals with CDC73-related FIHP tend to have a more severe clinical presentation and younger age of onset than individuals with FIHP in whom a CDC73 pathogenic variant has not been identified.|GeneReviews|N|
C1705232|Death related to adverse event.|SNOMEDCT_US|N|
C1705236|A variation from processes or procedures defined in a protocol. Deviations usually do not preclude the overall evaluability of subject data for either efficacy or safety, and are often acknowledged and accepted in advance by the sponsor. (CDISC Glossary)|NCI|N|
C1705254|A congenital anatomic abnormality manifested during the neonatal period.|NCI|N|
C1705285|Any transmissible change in the genetic material of an organism, which can result from radiation, viral infection, transposition, treatment with mutagenic chemicals and errors during DNA replication or meiosis. The effects of mutation range from single base changes to loss or gain of complete chromosomes. As many of the simpler alterations to DNA may be repaired, such changes are only heritable once the change is fixed in the DNA by the process of replication. Mutations may be associated with genetic diversity or with pathologies including cancer.|NCI|N|
C1705489|A person who was assigned to the male gender at birth based on physical characteristics but who self-identifies psychologically and emotionally as female.|NCI|N|
C1705500|The perception of sudden or brief bursts (flashes) of light.|NCI|N|
C1705586|A condition or event that is attributed to the adverse event and is the result or conclusion of the adverse event.|NCI|N|
C1705617|Decreased period of time required for the concentration or amount of drug in the body to be reduced to exactly one-half of a given concentration or amount.|NCI|N|
C1705687|A structural change in genomic DNA where the 5'' to 3'' order of a nucleotide sequence is completely reversed to the 3'' to 5'' order relative to its adjacent sequences. This inversion is termed either pericentric, if it includes the centromere of a chromosome, or pancentric, if it excludes the centromere. An inversion mutation abnormality may be heritable or occur somatically.|NCI|N|
C1705736|Fusion of two genes or segments of genes that were previously separated prior to a mutation abnormality such as translocation. A gene fusion abnormality results in the formation of a new genetic unit that typically exhibits altered functional characteristics. This type of mutation abnormality can be either heritable or occur somatically.|NCI|N|
C1705759|An increase in the copy number of a particular gene. This type of abnormality can be either inherited or somatic.|NCI|N|
C1705849|Problem with all or part of an implanted or invasive medical device being completely expelled from its intended location within the body.|NCI|N|
C1705907|Paget disease of the nipple without invasive carcinoma and/or carcinoma in situ in the underlying breast parenchyma. (from AJCC 6th and 7th Ed.)|NCI|N|
C1705960|Generation of an extra copy of a particular gene in the genome. A gene duplication abnormality may occur by gene amplification, random breakage and reunion, retrotransposition or unequal crossing-over at meiosis. A gene duplication abnormality can be either heritable or somatic.|NCI|N|
C1706192|A group of inherited metabolic disorders characterized by the intralysosomal accumulation of sulfur-containing lipids (SULFATIDES), including SULFOGLYCOSPHINGOLIPIDS normally found in the MYELIN SHEATH of the brain. These disorders are caused by defective degradative enzymes leading to substrate accumulation (or storage).|MSH|N|
C1706277|An indication that there is no device or component that matches the criteria.|NCI|N|
C1706307|A mild inflammatory tissue reaction; it can be caused by physical contact with an irritant or can be a local response to a systemic trigger.|NCI|N|
C1706338|The strength of the active ingredient(s) is not provided.|NCI|N|
C1706353|A break or fissure in a structure.|NCI|N|
C1706394|A change in the amino acid sequence of a wild-type protein. This alteration typically occurs due to a mutation of the gene that encodes the protein. The change in amino acid sequence may enhance, reduce, abolish or have no effect on protein activity.|NCI|N|
C1706395|Translation of a truncated form of a wild-type protein that originates from a mutation or mutations in the coding sequence of a gene. Genetic alterations that yield truncated protein products include frameshift mutations, nonsense mutations or splice site mutations. The activity of a truncated protein is usually reduced or abolished in comparison to the activity of the wild-type protein.|NCI|N|
C1706410|A genetic predisposition to form IgE antibodies in response to exposure to allergens and therefore, for the development of immediate (type I) hypersensitivity and atopic conditions, such as allergic rhinitis; bronchial asthma, atopic dermatitis, and food allergy. Mutations of specific alleles on the long arm of chromosome 5 have been associated with higher levels of IL-4 and IgE and are known as IL-4 promoter polymorphisms.|MONDO|N|
C1706412|Abnormally high level of lipids in blood.|MSH|N|
C1706559|Golden brown or gray deposits with a clockwise, whorl-like distribution in the inferior interpalpebal portion of the cornea.|HPO|N|
C1706595|Pachyonychia congenita (PC) is characterized by hypertrophic nail dystrophy, painful palmoplantar keratoderma and blistering, oral leukokeratosis, pilosebaceous cysts (including steatocystoma and vellus hair cysts), palmoplantar hyperhydrosis, and follicular keratoses on the trunk and extremities.|GeneReviews|N|
C1706633|ABC Transporter Inhibition involves interference with, or restraint of, the activities of cell membrane glycoproteins selectively permeable to P-glycoprotein substrates.|NCI|N|
C1706698|An infrequent pituitary neuroendocrine tumor composed of cells showing immunoreactivity for prolactin and less often growth hormone. Electron microscopic studies reveal giant mitochondria, a finding not present in any other type of pituitary gland adenomas.|NCI|N|
C1706708|Acute myelomonocytic leukemia without an abnormal eosinophilic component in the bone marrow.|NCI|N|
C1706716|A point mutation involving the substitution of Cytosine (a pyrimidine base) for Adenosine (a purine base) in a DNA sequence from eukaryotic or prokaryotic organisms. This abnormality can be either heritable or occur somatically.|NCI|N|
C1706717|A point mutation involving the substitution of Guanosine (a purine base) for Adenosine (a purine base) in a DNA sequence from eukaryotic or prokaryotic organisms. This abnormality can be either heritable or occur somatically.|NCI|N|
C1706718|A point mutation involving the substitution of Thymidine (a pyrimidine base) for Adenosine (a purine base) in a DNA sequence from eukaryotic or prokaryotic organisms. This abnormality can be either heritable or occur somatically.|NCI|N|
C1706724|A usually non-functioning variant of adrenal cortex adenoma, composed of large cells with abundant granular eosinophilic cytoplasm.|NCI|N|
C1706726|A benign adrenal cortical neoplasm deriving from mesothelial cells.|NCI|N|
C1706727|A rare malignant soft tissue neoplasm arising from the vascular endothelium of the adrenal gland.|NCI|N|
C1706728|A neoplasm that arises from the adrenal medulla and combines morphologic characteristics of pheochromocytoma and neuroectodermal tumors such as neuroblastoma, ganglioneuroma, ganglioneuroblastoma, or peripheral nerve sheath tumor.|NCI|N|
C1706729|A rare cardiac rhabdomyoma occurring in adults. It is characterized by the presence of neoplastic striated muscle cells with eosinophilic granular cytoplasm and increased cellularity.|NCI|N|
C1706731|An extraskeletal myxoid chondrosarcoma occurring in adults.|NCI|N|
C1706732|A hepatocellular carcinoma that occurs during adulthood and has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C1706733|A clinical stage II or IV non-Hodgkin lymphoma with up to three of the following risk factors: albumin level less than 4.0 g/dl, hemoglobin level of less than 10.5 g/dl, male sex, forty-five years of age or older, stage IV disease, white cell count of at least 15,000 per cubic millimeter, absolute lymphocytic count of less than 600 per cubic millimeter or a lymphocytic count of less than 8% of the total white cell count.|NCI|N|
C1706734|A clinical stage II or IV non-Hodgkin lymphoma with at least four of the following risk factors: albumin level less than 4.0 g/dl, hemoglobin level of less than 10.5 g/dl, male sex, forty-five years of age or older, stage IV disease, white cell count of at least 15,000 per cubic millimeter, absolute lymphocytic count of less than 600 per cubic millimeter or a lymphocytic count of less than 8% of the total white cell count.|NCI|N|
C1706762|An aldosterone-producing adenoma is a noncancerous (benign) tumor that develops in an adrenal gland, which is a small hormone-producing gland located on top of each kidney. In most cases, individuals develop a single tumor in one of the adrenal glands. The adrenal tumor produces too much of the hormone aldosterone, which is a condition known as primary hyperaldosteronism. Aldosterone helps regulate the body's fluid levels and blood pressure by controlling the amount of salt retained by the kidneys. Excess aldosterone causes the kidneys to retain more salt than normal, which increases the body's fluid levels and blood pressure. People with an aldosterone-producing adenoma may develop severe high blood pressure (hypertension), and they have an increased risk of heart attack, stroke, or an irregular heart beat (atrial fibrillation).|MedlinePlus Genetics|N|
C1706789|A very rare ameloblastic carcinoma that originates from a pre-existing intraosseous benign ameloblastoma.|NCI|N|
C1706790|A very rare ameloblastic carcinoma that originates from a pre-existing extraosseous benign ameloblastoma.|NCI|N|
C1706802|A soft tissue neoplasm composed of acellular amyloid material.|NCI|N|
C1706803|Amyloidogenesis is the formation or growth of amyloid structures, implicated in many human diseases including Alzheimer s disease (AD), Parkinson s disease (PD), type II diabetes, and spongiform encephalopathies. In these disease states, normally soluble proteins aggregate as amyloidogenic insoluble fibrils that accumulate in affected tissues or organs.|NCI|N|
C1706810|A rare adenoma of the adrenal cortex that produces androgens. Female patients usually have symptoms related to virilism.|NCI|N|
C1706819|A neoplasm arising from the anterior lobe of the pituitary gland. The vast majority are pituitary neuroendocrine tumors (formerly pituitary adenomas).|NCI|N|
C1706823|Antigen Sensitization is a process of immunization with an antigen preparation that renders an immune-response involving generation of antibodies against the specific antigen(s) injected.|NCI|N|
C1706829|A circumscribed neoplasm arising from the glandular epithelium of the appendix. Morphologically, it is characterized by a proliferation of neoplastic glandular cells and it is associated with dysplasia. According to the growth pattern, it may be classified as tubular, villous, or tubulovillous. The dysplasia is classified as mild, moderate, or severe.|NCI|N|
C1706830|A benign adipose tissue neoplasm involving the wall of the appendix.|NCI|N|
C1706831|A carcinoma that arises from the appendix. It is characterized by the presence of a malignant glandular epithelial component and a malignant neuroendocrine component. At least 30 percent of either component should be present for the diagnosis to be made.|NCI|N|
C1706832|Mucinous adenocarcinoma of the appendix is a very rare, slow growing, well-differentiated epithelial neoplasm of the appendix characterized by abundant mucin production. Clinically, it presents as acute appendicitis (with abdominal pain, fever, leukocytosis) or as pseudomyxoma peritonei (wide-spread presence of mucin within the peritoneal cavity), however some patients may be completely asymptomatic at the time of diagnosis. In many cases, a second gastrointestinal malignancy is present.|ORDO|N|
C1706833|An aggressive, high-grade, and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the wall of the appendix. It is characterized by the presence of malignant small cells.|NCI|N|
C1706834|An adenoma arising from the appendix. It is characterized by the presence of tubular epithelial structures and it is associated with dysplasia.|NCI|N|
C1706835|A neuroendocrine tumor that arises from the appendix. It does not show the morphologic characteristics of typical carcinoid tumors (neoplastic cells forming solid nests). In contrast, the tumor cells form small discrete tubules.|NCI|N|
C1706836|An adenoma arising from the appendix. It is characterized by the presence of tubular and villous epithelial structures and it is associated with dysplasia.|NCI|N|
C1706837|A high grade carcinoma arising from the appendix, characterized by the absence of glandular or squamous differentiation.|NCI|N|
C1706846|Consisting of abnormally decreased sensitivity, particularly to touch in the arm or hand.|NCI|N|
C1706864|TNM staging performed on autopsy.|NCI|N|
C1706867|Features commonly associated with lymphoma, including fever above 38C, drenching night sweats, and weight loss of more than 10% of body mass in the previous 6 months. B symptoms are signs of a poor prognosis in patients with lymphoma.|NCI|N|
C1706884|A change in the nucleotide sequence of the FLCN gene.|NCI|N|
C1706890|A change in the nucleotide sequence of the BLM gene.|NCI|N|
C1706920|A sporadic or familial pheochromocytoma that is confined to the adrenal gland.|NCI|N|
C1706921|A rare, benign neoplasm usually arising from the non-metaphyseal regions of long bones or pelvis. It is characterized by the presence of fibroblastic spindle cells arranged in a whorled storiform pattern, osteoclast-like giant cells, foam cells, inflammatory cells, hemosiderin deposition and stromal hemorrhage.|NCI|N|
C1706922|A neoplasm that arises from the germinative follicular epithelium and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C1706923|A mixed epithelial and mesenchymal neoplasm that arises from the hair follicle. It is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C1706924|A neoplasm that arises from the outer hair sheath and infundibulum. It is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C1706925|A mesenchymal neoplasm arising from the pilar sheath of the hair follicle. It is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential. Representative examples include fibrofolliculoma, perifollicular fibroma, pilar leiomyoma, and trichogenic myxoma.|NCI|N|
C1706980|A rare leiomyoma affecting the bone.|NCI|N|
C1706987|Primary cutaneous marginal zone lymphoma of mucosa-associated lymphoid tissue that arises from chronically stimulated lymphoid tissue in the skin in response to Borrelia burgdoferi infection.|NCI|N|
C1706998|A clinical finding about one or more characteristics of breast cancer, following the rules of the TNM AJCC v6 classification system. TNM clinical findings are based on information obtained prior to the first definitive treatment through physical examination, diagnostic imaging, endoscopy, biopsy or laboratory testing.|NCI|N|
C1706999|A pathologic finding about one or more characteristics of breast cancer, following the rules of the TNM AJCC v6 classification system as they pertain to distant metastases. TNM pathologic distant metastasis findings are based on clinical findings supplemented by histopathologic examination of one or more tissue specimens acquired during surgery.|NCI|N|
C1707000|A pathologic finding about one or more characteristics of breast cancer, following the rules of the TNM AJCC v6 classification system as they pertain to staging of the primary tumor. TNM pathologic primary tumor findings are based on clinical findings supplemented by histopathologic examination of one or more tissue specimens acquired during surgery.|NCI|N|
C1707001|A pathologic finding about one or more characteristics of breast cancer, following the rules of the TNM AJCC v6 classification system as they pertain to staging of regional lymph nodes. TNM pathologic regional lymph nodes findings are based on clinical findings supplemented by histopathologic examination of one or more tissue specimens acquired during surgery.|NCI|N|
C1707002|A pathologic finding about one or more characteristics of breast cancer, following the rules of the TNM AJCC v6 classification system. TNM pathologic findings are based on clinical findings supplemented by histopathologic examination of one or more tissue specimens acquired during surgery.|NCI|N|
C1707003|A finding about one or more characteristics of breast cancer, following the rules of the TNM AJCC v6 classification system.|NCI|N|
C1707004|Breast cancer in which there is no evidence of distant metastasis. (from AJCC 6th Ed.)|NCI|N|
C1707005|Breast cancer with distant metastasis. (from AJCC 6th and 7th Eds.)|NCI|N|
C1707006|Breast cancer in which the status of distant metastasis cannot be assessed. (from AJCC 6th Ed.)|NCI|N|
C1707007|Breast cancer without histological evidence of regional lymph node involvement (no isolated tumor cell cluster greater than 0.2mm), and in which no examination for isolated tumor cells is performed. (from AJCC 6th Ed.)|NCI|N|
C1707008|Breast cancer without histological evidence of regional lymph node involvement, and negative morphologic findings for isolated tumor cells using any morphologic technique (including hematoxylin-eosin and/or immunohistochemistry). (from AJCC 6th Ed.)|NCI|N|
C1707009|Breast cancer without histological evidence of regional lymph node involvement, and positive morphologic findings for isolated tumor cells (ITCs) using any morphologic technique (including hematoxylin-eosin and/or immunohistochemistry), and no ITC cluster greater than 0.2 mm. (from AJCC 6th Ed.)|NCI|N|
C1707010|Breast cancer without histological evidence of regional lymph node involvement, and with negative molecular findings by RT-PCR. (from AJCC 6th and 7th Ed.)|NCI|N|
C1707011|Breast cancer with positive molecular findings by RT-PCR, but without histological or immunohistochemical evidence of regional lymph node involvement. (from AJCC 6th and 7th Ed.)|NCI|N|
C1707012|Breast cancer with metastasis to 1 to 3 axillary lymph nodes, and/or internal mammary nodes with microscopic disease detected by sentinel lymph node dissection but not clinically apparent. (from AJCC 6th Ed.)|NCI|N|
C1707013|Breast cancer with metastasis in 1 to 3 axillary lymph nodes (at least 1 tumor deposit greater than 2.0 mm). (from AJCC 6th and 7th Eds.)|NCI|N|
C1707014|Breast cancer with metastasis in internal mammary lymph nodes with microscopic disease detected by sentinel lymph node dissection but not clinically apparent. (from AJCC 6th Ed.)|NCI|N|
C1707015|Breast cancer with metastasis in 1 to 3 axillary lymph nodes and in internal mammary nodes with microscopic disease detected by sentinel lymph node dissection but not clinically apparent. (from AJCC 6th Ed.)|NCI|N|
C1707016|Breast cancer with micrometastasis (greater than 0.2 mm, none greater than 2.0 mm). (from AJCC 6th Ed.)|NCI|N|
C1707017|Breast cancer with metastasis in 4 to 9 axillary lymph nodes or in clinically apparent internal mammary lymph nodes in the absence of axillary lymph node metastasis. (from AJCC 6th Ed.)|NCI|N|
C1707018|Breast cancer with metastasis in 4 to 9 axillary lymph nodes (at least 1 tumor deposit greater than 2.0 mm). (from AJCC 6th and 7th Eds.)|NCI|N|
C1707019|Breast cancer with metastasis in clinically apparent internal mammary lymph nodes in the absence of axillary lymph node metastases. (from AJCC 6th Ed.)|NCI|N|
C1707020|Breast cancer with metastasis in 10 or more axillary lymph nodes, or in infraclavicular lymph nodes, or in clinically apparent ipsilateral internal mammary lymph nodes in the presence of 1 or more positive axillary lymph nodes; or in more than 3 axillary lymph nodes with clinically negative microscopic metastasis in internal mammary lymph nodes; or in ipsilateral supraclavicular lymph nodes. (from AJCC 6th Ed.)|NCI|N|
C1707021|Breast cancer with metastases in 10 or more axillary lymph nodes (at least one tumor deposit greater than 2.0 mm); or metastases to the infraclavicular (level III axillary) lymph nodes. (from AJCC 6th and 7th Eds.)|NCI|N|
C1707022|Breast cancer with metastasis in clinically apparent ipsilateral internal mammary lymph nodes in the presence of 1 or more positive axillary lymph nodes; or in more than 3 axillary lymph nodes and in internal mammary lymph nodes with microscopic disease detected by sentinel lymph node dissection but not clinically apparent. (from AJCC 6th Ed.)|NCI|N|
C1707023|Breast cancer with metastasis in ipsilateral supraclavicular lymph nodes. (from AJCC 6th and 7th Eds.)|NCI|N|
C1707024|Breast cancer in which regional lymph nodes cannot be assessed (e.g., previously removed, or not removed for pathologic study). (from AJCC 6th and 7th Eds.)|NCI|N|
C1707025|Breast cancer with no evidence of primary tumor. (from AJCC 6th and 7th Eds.)|NCI|N|
C1707026|Breast cancer with tumor size 2.0 cm or less in greatest dimension. (from AJCC 6th and 7th Ed.)|NCI|N|
C1707027|Breast cancer with tumor size more than 0.1 cm, but not more than 0.5 cm in greatest dimension. (from AJCC 6th and 7th Eds.)|NCI|N|
C1707028|Breast cancer with tumor size more than 0.5 cm, but not more than 1.0 cm in greatest dimension. (from AJCC 6th and 7th Eds.)|NCI|N|
C1707029|Breast cancer with tumor size more than 1.0 cm, but not more than 2.0 cm in greatest dimension. (from AJCC 6th and 7th Eds.)|NCI|N|
C1707030|Breast cancer with tumor size 0.1 cm or less in greatest dimension (microinvasion). (from AJCC 6th and 7th Eds.)|NCI|N|
C1707031|Breast cancer with tumor size more than 2.0 cm, but not more than 5.0 cm in greatest dimension. (from AJCC 6th and 7th Eds.)|NCI|N|
C1707032|Breast cancer with tumor size more than 5.0 cm in greatest dimension. (from AJCC 6th and 7th Eds.)|NCI|N|
C1707033|Breast cancer with tumor of any size with direct extension to chest wall or skin, but only as described in pT4 sub-categories, in accordance with TNM guidelines. (from AJCC 6th and 7th Eds.)|NCI|N|
C1707034|Breast cancer with extension to the chest wall, not including the pectoralis muscle. (from AJCC 6th and 7th Eds.)|NCI|N|
C1707035|Breast cancer with ulceration and/or ipsilateral satellite nodules and/or edema (including peau d''orange) of the skin, which do not meet the criteria for inflammatory carcinoma. (from AJCC 6th and 7th Eds.)|NCI|N|
C1707036|Breast cancer with extension to the chest wall, not including the pectoralis muscle, and with edema (including peau d''orange) or ulceration of the skin of the breast or satellite skin nodules confined to the same breast. (from AJCC 6th and 7th Eds.)|NCI|N|
C1707037|Breast cancer meeting the clinical-pathologic criteria of inflammatory carcinoma. (from AJCC 6th and 7th Eds.)|NCI|N|
C1707038|Breast cancer in which the primary tumor cannot be assessed. (from AJCC 6th and 7th Eds.)|NCI|N|
C1707039|Breast cancer with a finding of ductal carcinoma in situ. (from AJCC 6th and 7th Ed.)|NCI|N|
C1707040|Breast cancer with a finding of lobular carcinoma in situ. (from AJCC 6th and 7th Ed.)|NCI|N|
C1707041|Breast cancer with a finding of carcinoma in situ. (from AJCC 6th and 7th Eds.)|NCI|N|
C1707042|An invasive carcinoma of the breast showing differentiation towards cartilaginous structures.|NCI|N|
C1707094|An indication that expression of CD1A has been detected in a sample of neoplastic cells.|NCI|N|
C1707102|An indication that expression of CD4 has been detected in a sample of neoplastic cells.|NCI|N|
C1707104|An immunophenotypic finding indicating the presence of neoplastic cells expressing CD56.|NCI|N|
C1707245|A mucosa-associated lymphoid tissue lymphoma that arises from the small intestine and it is associated with Campylobacter jejuni infection.|NCI|N|
C1707251|A finding indicating the presence of a malignancy that is not further specified or defined.|NCI|N|
C1707254|A cancer finding in the TNM system that is relevant to the diagnosis of cancer.|NCI|N|
C1707258|Aspects of the context prevent the evaluation needed to determine a value.|NCI|N|
C1707264|The tightening of scar tissue that forms around the implant.|NCI|N|
C1707265|A microscopic finding indicating the infiltration of the capsule that surrounds an organ by a malignant cellular population.|NCI|N|
C1707291|A rare tumour characterised by a rapidly growing mass usually arising along the midline, defined by the presence of NUTM1 rearrangements. Histopathological examination shows a poorly differentiated carcinoma, often with evidence of squamous differentiation. Patients present with unspecific signs and symptoms due to mass effect depending on the location. Extensive local invasion of adjacent structures, lymph node involvement and distant metastatic disease are often present at the time of diagnosis. Prognosis is generally poor.|SNOMEDCT_US|N|
C1707293|A biphasic synovial sarcoma arising from the heart.|NCI|N|
C1707296|A hemangioma arising from the heart. It is characterized by the presence of cavernous vascular spaces.|NCI|N|
C1707297|An increase from the normal levels of cardiac enzymes measurement.|NCI|N|
C1707298|Abnormal proliferation of blood vessels within the cardiac cavities attached to the endocardium.|HPO|N|
C1707299|An intermediate fibroblastic neoplasm arising from the heart. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes, and plasma cells.|NCI|N|
C1707300|A hemangioma arising from the myocardium.|NCI|N|
C1707301|A monophasic synovial sarcoma arising from the heart.|NCI|N|
C1707302|A synovial sarcoma arising from the heart.|NCI|N|
C1707305|Tooth decay that has invaded the dentin, creating dentin that is partially demineralized and containing mineral crystals in the tubules.|NCI|N|
C1707313|Any apoptotic process that does not involve pathways that activate intracellular proteolytic caspases.|NCI|N|
C1707319|A morphologic variant of angioleiomyoma characterized by the presence of markedly dilated vascular channels.|NCI|N|
C1707332|An intramuscular myxoma with increased cellularity and increased numbers of collagen fibers and blood vessels.|NCI|N|
C1707352|Change from the affected person''s usual emotional state.|NCI|N|
C1707377|A rare benign lesion that arises from the rib cage and affects infants. It results in the formation of a mass which is composed of spindle cells, cartilage, and hemorrhagic cysts. Surgical resection is usually curative.|NCI|N|
C1707380|Children affected by toxins may be due to silicone breast implants and their effects on unborn children and from breastfeeding.|NCI|N|
C1707385|Mucosa-associated lymphoid tissue lymphoma that arises from the ocular adnexa and caused by stimulation of lymphoid tissue due to Chlamydia psittaci bacterial infection.|NCI|N|
C1707390|A hamartoma that is characterized by the presence of chondroid elements.|NCI|N|
C1707400|Classic medulloblastoma is a histological variant of medulloblastoma (see this term) ,an embryonic malignancy, having a midline location, occurring most often in children and manifesting with variable symptoms such as headaches, nausea, vomiting and ataxia.|ORDO|N|
C1707401|A benign neoplasm occurring in the intraepidermal portion of the sweat gland duct.|NCI|N|
C1707402|A low grade fibromyxoid sarcoma that may have poorly formed collagen rosettes, but lacks prominent, well formed collagen rosettes.|NCI|N|
C1707406|A morphologic variant of intrahepatic cholangiocarcinoma composed of malignant glandular epithelium, an abundant fibrous stroma, and the presence of clear cells. Clinical symptoms include abdominal pain, weight loss and malaise.|NCI|N|
C1707407|A large cell lung carcinoma characterized by a predominance of clear cells that may or may not contain glycogen.|NCI|N|
C1707409|A morphologic variant of follicular carcinoma of the thyroid gland characterized by the predominance of malignant follicular clear cells. These cells lack the nuclear features that characterize the papillary carcinomas of the thyroid gland.|NCI|N|
C1707410|A morphologic variant of papillary carcinoma of the thyroid gland characterized by the predominance of malignant follicular clear cells. These cells have the nuclear features that characterize the papillary carcinomas of the thyroid gland.|NCI|N|
C1707417|TNM staging performed with access to clinical information only.|NCI|N|
C1707434|An adenocarcinoma that arises from the colonic glandular epithelium and invades the lamina propria or muscularis mucosa but not the submucosa.|NCI|N|
C1707435|An adenoma that arises from the colon. It is characterized by prominent serration of the glands.|NCI|N|
C1707436|An invasive adenocarcinoma of the colon characterized by the presence of malignant glandular epithelial cells which contain prominent intracytoplasmic mucin (signet ring cells). The signet ring cells constitute more than 50% of the malignant cells.|NCI|N|
C1707437|An unusual colorectal carcinoma characterized by the presence of glandular and squamous carcinomatous components. The two carcinomatous components may be admixed within the tumor, or the two may appear separately in different areas.|NCI|N|
C1707438|A rare, invasive colorectal adenocarcinoma characterized by the presence of sheets of malignant epithelial cells with vesicular nuclei, prominent nucleoli, and abundant eosinophilic cytoplasm. It usually has a favorable prognosis.|NCI|N|
C1707439|An invasive colorectal adenocarcinoma characterized by the presence of extracellular mucin pools that contain malignant glandular epithelial structures. The extracellular mucin pools occupy more than 50% of the malignant lesion.|NCI|N|
C1707440|An invasive colorectal adenocarcinoma characterized by the presence of malignant glandular epithelial cells with prominent intracytoplasmic mucin resulting in the displacement of the nuclei. The malignant glandular cells with intracytoplasmic mucin constitute more than 50% of the malignant cellular infiltrate.|NCI|N|
C1707441|An aggressive, high-grade, and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the colon or rectum. It is characterized by the presence of malignant small cells.|NCI|N|
C1707442|A very rare colorectal carcinoma characterized by the presence of a malignant squamous cell infiltrate.|NCI|N|
C1707443|An invasive malignant epithelial tumor that arises from the colon or rectum. There is no morphologic, immunophenotypic, or molecular biological evidence of glandular or squamous differentiation.|NCI|N|
C1707444|A columnar cell lesion characterized by the presence of enlarged terminal ductal lobular units with dilated acini. The acini are lined by one or two layers of columnar epithelial cells. Apical cytoplasmic snouts may be present, but they are not prominent. Secretions may be present in the lumina of the dilated acini.|NCI|N|
C1707445|A columnar cell lesion characterized by the presence of enlarged terminal ductal lobular units with dilated acini. The acini are lined by one or two layers of columnar epithelial cells. Cytologic atypia is present.|NCI|N|
C1707446|A columnar cell lesion characterized by the presence of enlarged terminal ductal lobular units with dilated acini. The acini are lined by more than two layers of columnar epithelial cells. Prominent apical cytoplasmic snouts are present. Secretions are often present in the lumina of the dilated acini.|NCI|N|
C1707447|A columnar cell lesion characterized by the presence of enlarged terminal ductal lobular units with dilated acini. The acini are lined by more than two layers of columnar epithelial cells. Cytologic atypia is present. Prominent apical cytoplasmic snouts and intraluminal secretions are also present.|NCI|N|
C1707448|A morphologic spectrum of lesions that arise in the terminal ductal lobular units of the breast parenchyma. These lesions are characterized by the presence of columnar epithelial cells that line dilated terminal ductal lobular units. Cytological and architectural atypia may be absent or minimal, or significant enough to raise the possibility of atypical ductal hyperplasia or ductal carcinoma in situ. Columnar cell lesions are frequently found in breast biopsies but their biologic significance is not known.|NCI|N|
C1707449|A primary thymic epithelial neoplasm, characterized by the presence of at least two distinct areas, one representing a thymoma and the other a carcinoma. The most aggressive component usually determines the clinical outcome.|NCI|N|
C1707492|When the permission to do something is rescinded or withdrawn.|NCI|N|
C1707497|The patient becomes contaminated from contact with blood/fluids on a device.|NCI|N|
C1707503|An interaction in which one entity regulates, modifies, or otherwise influences another.|NCI|N|
C1707508|A morphologic variant of dermatofibrosarcoma protuberans characterized by the presence of spindle-shaped fibroblastic cells, histiocytic cells, and a storiform growth pattern.|NCI|N|
C1707525|An adenoma of the adrenal cortex that produces cortisol. It may be associated with Cushing syndrome. Clinical presentation includes weight gain, round face, easy bruising, muscle weakness, emotional changes, hirsutism, and hypertension.|NCI|N|
C1707539|A split located on a leaflet of a heart valve that prevents its complete closing, which can result in valvular dysfunction.|NCI|N|
C1707540|Adult T-cell leukemia/lymphoma affecting the skin.|NCI|N|
C1707541|An aggressive mature T-cell non Hodgkin lymphoma involving the skin. It is characterized by the presence of a polymorphic cellular infiltrate which contains neoplastic small to medium sized T-lymphocytes.|NCI|N|
C1707542|A chronic lymphocytic leukemia that affects the skin.|NCI|N|
C1707543|A morphologic variant of fibrous histiocytoma of the skin. It is characterized by the presence of spindle-shaped fibrohistiocytic cells and increased cellularity.|NCI|N|
C1707544|A morphologic variant of fibrous histiocytoma of the skin. It is characterized by the presence of epithelioid fibrohistiocytic cells.|NCI|N|
C1707545|A morphologic variant of fibrous histiocytoma of the skin. It is characterized by the presence of spindle-shaped fibrohistiocytic cells and associated acanthosis.|NCI|N|
C1707546|A morphologic variant of fibrous histiocytoma of the skin. It is characterized by the presence of xanthomatous fibrohistiocytic cells, giant cells, and hemosiderin deposition.|NCI|N|
C1707547|A rare usually aggressive subtype of cutaneous T-cell lymphoma with characteristics of infiltration of the epidermis, dermis or subcutaneous tissue by a clonal population of mature, gamma/delta positive cytotoxic T-cells. Typically it presents with ulcerating plaques on the skin of the extremities, however, frequent involvement of mucosal and extranodal sites (such as the nasal cavity, gastrointestinal tract or lungs) is also observed. Infiltration of lymph nodes, spleen and bone marrow is uncommon and resistance to multilineage chemotherapy is reported.|SNOMEDCT_US|N|
C1707548|A myeloid or lymphoid cell neoplasm involving the skin.|NCI|N|
C1707549|Lymphomatoid granulomatosis that affects the skin.|NCI|N|
C1707550|Mantle cell lymphoma that affects the skin.|NCI|N|
C1707551|A B-cell neoplasm that arises from the skin.|NCI|N|
C1707552|A group of neoplasms composed of T-lymphocytes with a mature (peripheral/post-thymic) immunophenotypic profile and/or NK-cells affecting the skin.|NCI|N|
C1707557|Cutaneous melanoma with no evidence of distant metastasis. (from AJCC 6th Ed.)|NCI|N|
C1707561|Cutaneous melanoma with metastases to all other visceral sites associated with normal serum lactate dehydrogenase (LDH) or distant metastases to any site associated with an elevated serum LDH. (from AJCC 6th and 7th Eds.)|NCI|N|
C1707562|Cutaneous melanoma in which the status of distant metastasis cannot be assessed. (from AJCC 6th Ed.)|NCI|N|
C1707563|Cutaneous melanoma without involvement of regional lymph nodes. (from AJCC 6th and 7th Eds.)|NCI|N|
C1707571|Cutaneous melanoma involving four or more regional lymph nodes, or with a finding of matted metastatic nodes, or with in-transit metastasis or satellite(s) with metastasis in regional lymph node(s). (from AJCC 6th and 7th Eds.)|NCI|N|
C1707573|Cutaneous melanoma with no evidence of primary tumor. (from AJCC 6th and 7th Eds.)|NCI|N|
C1707577|Cutaneous melanoma 1.01 to 2 mm in thickness, with or without ulceration. (from AJCC 6th and 7th Eds.)|NCI|N|
C1707578|Cutaneous melanoma 1.01 to 2 mm in thickness, with no ulceration. (from AJCC 6th and 7th Eds.)|NCI|N|
C1707579|Cutaneous melanoma 1.01 to 2 mm thick, with ulceration. (from AJCC 6th and 7th Eds.)|NCI|N|
C1707580|Cutaneous melanoma 2.01 to 4 mm thick, with or without ulceration. (from AJCC 6th and 7th Eds.)|NCI|N|
C1707581|Cutaneous melanoma 2.01 to 4 mm in thickness, with no ulceration. (from AJCC 6th and 7th Eds.)|NCI|N|
C1707582|Cutaneous melanoma 2.01 to 4 mm thick, with ulceration. (from AJCC 6th and 7th Eds.)|NCI|N|
C1707583|Cutaneous melanoma greater than 4.0 mm in thickness, with or without ulceration. (from AJCC 6th and 7th Eds.)|NCI|N|
C1707584|Cutaneous melanoma greater than 4.0 mm in thickness, without ulceration. (from AJCC 6th and 7th Eds.)|NCI|N|
C1707585|Cutaneous melanoma greater than 4.0 mm in thickness, with ulceration. (from AJCC 6th and 7th Eds.)|NCI|N|
C1707587|Cutaneous melanoma in situ. (from AJCC 6th and 7th Eds.)|NCI|N|
C1707588|Nasal type extranodal NK/T-cell lymphoma affecting the skin.|NCI|N|
C1707589|B-lymphoblastic leukemia/lymphoma that arises from the skin.|NCI|N|
C1707590|A precursor lymphoid neoplasm that arises from the skin.|NCI|N|
C1707591|T-lymphoblastic leukemia/lymphoma that arises from the skin.|NCI|N|
C1707597|A morphologic finding indicating the presence of cystic structures in a tissue sample.|NCI|N|
C1707601|Any interaction between a cognate ligand and any of a series of cytokine receptors. Activation of cytokine receptors is involved in regulation of the immune system, cell proliferation, cell death, as well as other multicellular processes.|NCI|N|
C1707604|A point mutation involving the substitution of Adenosine (a purine base) for Cytosine (a pyrimidine base) in a DNA sequence from eukaryotic or prokaryotic organisms. This abnormality can be either heritable or occur somatically.|NCI|N|
C1707605|A point mutation involving the substitution of Guanosine (a purine base) for Cytosine (a pyrimidine base) in a DNA sequence from eukaryotic or prokaryotic organisms. This abnormality can be either heritable or occur somatically.|NCI|N|
C1707606|A point mutation involving the substitution of Thymidine (a pyrimidine base) for Cytosine (a pyrimidine base) in a DNA sequence from eukaryotic or prokaryotic organisms. This abnormality can be either heritable or occur somatically.|NCI|N|
C1707628|Injury to vaginal mucosa.|NCI|N|
C1707645|Decreased area under the plot of plasma concentration of a concomitant drug against time after its administration.|NCI|N|
C1707646|Decreased period of time required for the concentration or amount of a concomitant drug in the body to be reduced to exactly one-half of a given concentration or amount.|NCI|N|
C1707647|A reduction in the level of a concomitant drug.|NCI|N|
C1707648|Decreased maximum (peak) concentration of a concomitant drug observed after its administration.|NCI|N|
C1707649|Decreased area under the plot of plasma concentration of a drug against time after drug administration.|NCI|N|
C1707650|Decreased maximum (peak) concentration of a drug observed after its administration.|NCI|N|
C1707651|Decreased time following concomitant drug administration at which the peak drug blood concentration occurs.|NCI|N|
C1707652|Decreased time following drug administration at which the peak drug blood concentration occurs.|NCI|N|
C1707674|A rare prolactin-producing pituitary neuroendocrine tumor composed of acidophilic cells with many large secretory granules. The endoplasmic reticulum is not as abundant as in the sparsely granulated subtype.|NCI|N|
C1707675|A growth hormone-producing pituitary neuroendocrine tumor composed of medium-sized acidophilic cells with granular cytoplasm and abundant secretory granules.|NCI|N|
C1707736|A symptom complex characterized by nervousness, chest pain, back pain, palpations, pruritus, and other usually mild symptoms occurring minutes following the initiation of dialysis with a new dialyzer.|NCI|N|
C1707742|A header term that includes the following diffuse large B-cell lymphoma subtypes by gene expression profiling: activated B-cell-like diffuse large B-cell lymphoma, germinal center B-cell-like diffuse large B-cell lymphoma, and type 3 diffuse large B-cell lymphoma.|NCI|N|
C1707744|Lymphangiomatosis diffusely involving the lung parenchyma.|NCI|N|
C1707758|Infection produced by direct contact with another person.|NCI|N|
C1707791|Permanent deformation of appearance.|NCI|N|
C1707827|A variant of ductal eccrine carcinoma with abundant fibromyxoid stroma.|NCI|N|
C1707828|A variant of ductal eccrine carcinoma with spindled cell appearance.|NCI|N|
C1707829|A variant of ductal eccrine carcinoma with squamoid metaplasia.|NCI|N|
C1707837|A morphologic finding indicating the presence of dysplastic epithelial changes in a large intestinal tissue sample that is affected by ulcerative colitis.|NCI|N|
C1707876|A clinical stage I or II non-Hodgkin lymphoma with at least one of the following risk factors: large mediastinal mass, extranodal spread, elevated erythrocyte sedimentation rate, involvement of at least three lymph node areas, and B symptoms.|NCI|N|
C1707880|A carcinoma of the eccrine glands. It consists of dilated ducts with papillary projections.|NCI|N|
C1707940|A normal feature of responses to infectious agents that allows recognition of multiple antigenic targets, Epitope Spreading involves non-cross-reactive epitopes, distinct from the inducing epitope, becoming major targets of an ongoing immune response. Epitope spreading (ES) involves an increased presentation of cryptic epitopes on one protein (intermolecular ES) or dominant epitopes on neighboring molecules (intramolecular ES). The result is an increase in antibody repertoire diversify, resulting in an enhanced overall immune response. Conversely, epitope spreading is the primary immunopathogenic event in autoimmune diseases.|NCI|N|
C1707954|A rare adenoma of the adrenal cortex that produces estrogens. Male patients may develop gynecomastia and impotence.|NCI|N|
C1707985|A benign mesenchymal neoplasm that shows mature skeletal muscle differentiation.|NCI|N|
C1707986|A rare variant of sebaceous carcinoma that does not affect the ocular region.|NCI|N|
C1708022|A change in the nucleotide sequence of the FH gene.|NCI|N|
C1708045|A rare morphologic variant of lung adenocarcinoma characterized by the presence of glandular structures containing glycogen-rich cells forming tubules that resemble fetal lung tubules.|NCI|N|
C1708074|A morphologic architectural pattern in which a cellular population is distributed in a localized or relatively uneven fashion throughout a specified tissue area; not diffuse.|NCI|N|
C1708090|Consisting of abnormally decreased sensitivity, particularly to touch in the foot or leg.|NCI|N|
C1708106|An intermediate grade well differentiated neoplasm with neuroendocrine differentiation that arises from the pancreas. It is characterized by the presence of a clinical syndrome that results from hormone hypersecretion.|NCI|N|
C1708107|A well differentiated, low, intermediate, or high grade neoplasm with neuroendocrine differentiation that arises from the pancreas. It is characterized by the presence of a clinical syndrome that results from hormone hypersecretion.|NCI|N|
C1708171|An adenocarcinoma that arises from the gallbladder. It is characterized by the presence of neoplastic tubular glands lined by columnar cells or neoplastic glands lined by goblet cells.|NCI|N|
C1708172|A rare morphologic variant of gallbladder adenocarcinoma composed of malignant glandular epithelium with a predominance of glycogen rich clear cells. The cells display hyperchromic nuclei and well-defined cytoplasmic borders.|NCI|N|
C1708173|Biliary intraepithelial neoplasia that affects the gallbladder epithelium. It is characterized by the absence of intraluminal micropapillary projections.|NCI|N|
C1708174|A neoplastic, non-invasive lesion that affects the gallbladder epithelium. It is characterized by the presence of atypical epithelial cells with an increased nuclear/cytoplasmic ratio, nuclear hyperchromasia, and loss of nuclear polarity.|NCI|N|
C1708176|An adenoma that arises from the gallbladder. It is characterized by the presence of a papillary growth pattern.|NCI|N|
C1708177|Biliary intraepithelial neoplasia that affects the gallbladder epithelium. It is characterized by the presence of intraluminal micropapillary projections.|NCI|N|
C1708180|An adenoma that arises from the gallbladder. It is characterized by the presence of a tubular growth pattern.|NCI|N|
C1708181|A grossly visible non-invasive neoplasm of the gallbladder composed of uniform back-to-back mucinous glands arranged in a tubular configuration. (WHO 2019)|NCI|N|
C1708187|An uncommon, poorly circumscribed, benign neoplasm arising in the soft tissues of infants, children and adolescents. It is characterized by the presence of haphazardly arranged spindle-shaped fibroblasts, collagenous stroma formation, and plaque-like growth pattern. There is a strong genetic component associating the neoplasm with Gardners syndrome and deep fibromatosis/desmoid tumor.|NCI|N|
C1708194|A benign or malignant granular cell tumor that arises from the stomach.|NCI|N|
C1708195|A benign, intermediate, or malignant mesenchymal neoplasm that arises from the stomach.|NCI|N|
C1708240|A neoplasm involving the germinative follicular epithelium.|NCI|N|
C1708257|Damage to the venae cavae, pulmonary artery, pulmonary veins or aorta resulting from a full thickness disruption in the integrity of the vessel wall.|NCI|N|
C1708260|A change in the nucleotide sequence of the GNAS gene.|NCI|N|
C1708261|A point mutation involving the substitution of Adenosine (a purine base) for Guanosine (a purine base) in a DNA sequence from eukaryotic or prokaryotic organisms. This abnormality can be either heritable or occur somatically.|NCI|N|
C1708262|A point mutation involving the substitution of Cytosine (a pyrimidine base) for Guanosine (a purine base) in a DNA sequence from eukaryotic or prokaryotic organisms. This abnormality can be either heritable or occur somatically.|NCI|N|
C1708263|A point mutation involving the substitution of Thymidine (a pyrimidine base) for Guanosine (a purine base) in a DNA sequence from eukaryotic or prokaryotic organisms. This abnormality can be either heritable or occur somatically.|NCI|N|
C1708272|A neoplastic process characterized by a diffuse poorly circumscribed overgrowth of adipose tissue in the breast and cervical areas, and an accumulation of visceral fat. It is associated with antiretroviral therapy. Clinical presentation includes hyperlipidemia, insulin resistance, and fat atrophy of the face and limbs.|NCI|N|
C1708279|An immunohistochemical finding that the monoclonal antibody HMB-45 binds to a sample of neoplastic cells.|NCI|N|
C1708292|A change in the nucleotide sequence of the CDC73 gene.|NCI|N|
C1708309|A non-malignant, focal growth in the heart, composed of unencapsulated nodules of enlarged, hypertrophic, mature cardiac myocytes with a variable amount of collagen and fat.|NCI|N|
C1708349|Hereditary diffuse gastric cancer (HDGC) is an autosomal dominant susceptibility for diffuse gastric cancer, a poorly differentiated adenocarcinoma that infiltrates into the stomach wall causing thickening of the wall (linitis plastica) without forming a distinct mass. Diffuse gastric cancer is also referred to as signet ring carcinoma or isolated cell-type carcinoma. The average age of onset of HDGC is 38 years (range: 14-69 years). The majority of the cancers in individuals with a CDH1 pathogenic variant occur before age 40 years. The estimated cumulative risk of gastric cancer by age 80 years is 70% for men and 56% for women. Women are also at a 42% risk for lobular breast cancer.|GeneReviews|N|
C1708350|FH tumor predisposition syndrome is characterized by cutaneous leiomyomata, uterine leiomyomata (fibroids), and/or renal tumors. Pheochromocytoma and paraganglioma have also been described in a small number of families. Cutaneous leiomyomata appear as skin-colored to light brown papules or nodules distributed over the trunk and extremities, and occasionally on the face, and appear at a mean age of 30 years, increasing in size and number with age. Uterine leiomyomata tend to be numerous and large; age at diagnosis ranges from 18 to 53 years, with most women experiencing irregular or heavy menstruation and pelvic pain. Renal tumors are usually unilateral, solitary, and aggressive. They are associated with poor survival due to clinical aggressiveness and propensity to metastasize despite small primary tumor size. The median age of detection is approximately age 40 years.|GeneReviews|N|
C1708351|A pathologic process inherited in a familial pattern.|NCI|N|
C1708353|Hereditary paraganglioma-pheochromocytoma (PGL/PCC) syndromes are characterized by paragangliomas (tumors that arise from neuroendocrine tissues distributed along the paravertebral axis from the base of the skull to the pelvis) and pheochromocytomas (paragangliomas that are confined to the adrenal medulla). Sympathetic paragangliomas cause catecholamine excess; parasympathetic paragangliomas are most often nonsecretory. Extra-adrenal parasympathetic paragangliomas are located predominantly in the skull base and neck (referred to as head and neck PGL [HNPGL]) and sometimes in the upper mediastinum; approximately 95% of such tumors are nonsecretory. In contrast, sympathetic extra-adrenal paragangliomas are generally confined to the lower mediastinum, abdomen, and pelvis, and are typically secretory. Pheochromocytomas, which arise from the adrenal medulla, typically lead to catecholamine excess. Symptoms of PGL/PCC result from either mass effects or catecholamine hypersecretion (e.g., sustained or paroxysmal elevations in blood pressure, headache, episodic profuse sweating, forceful palpitations, pallor, and apprehension or anxiety). The risk for developing metastatic disease is greater for extra-adrenal sympathetic paragangliomas than for pheochromocytomas.|GeneReviews|N|
C1708358|A morphologic finding indicating the presence of tissues that do not normally occur in the specific anatomic site or are found admixed with a neoplastic cellular infiltrate of a different cellular origin.|NCI|N|
C1708362|A central nervous system benign and slow growing adipose tissue tumor characterized by the presence of polygonal brown fat cells with abundant cytoplasm.|NCI|N|
C1708363|A morphologic finding indicating the presence of high grade colorectal epithelial dysplasia secondary to ulcerative colitis.|NCI|N|
C1708371|Histiocytoid cardiomyopathy, which was initially described by Voth (1962), goes by various names, including infantile xanthomatous cardiomyopathy (MacMahon, 1971), focal lipid cardiomyopathy (Bove and Schwartz, 1973), oncocytic cardiomyopathy (Silver et al., 1980), infantile cardiomyopathy with histiocytoid change (Ferrans et al., 1976), and foamy myocardial transformation of infancy (Yatani et al., 1988). The disorder is a rare but distinctive entity of infancy and childhood characterized by the presence of characteristic pale granular foamy histiocyte-like cells within the myocardium. It usually affects children younger than 2 years of age, with a clear predominance of females over males. Infants present with dysrhythmia or cardiac arrest, and the clinical course is usually fulminant, sometimes simulating sudden infant death syndrome (Andreu et al., 2000).|OMIM|N|
C1708385|A patient condition where evaluation and/or treatment in a hospital is considered mandatory.|NCI|N|
C1708386|Growth of tissue in or around a foreign body as the body''s antibody response to the foreign body.|NCI|N|
C1708397|A very rare Epstein-Barr virus-associated lymphoproliferative disorder characterized by a chronic, recurrent, vesiculopapular rash, which subsequently ulcerates and scars, located mainly on sun-exposed areas and which is associated with systemic manifestations, such as fever, weight loss, asthenia, facial edema, arthralgia, lymphadenopathy, hepatosplenomegaly and/or increased liver enzymes. Hypersensitivity to mosquito bites has been associated and an increased risk of developing systemic lymphoma has been reported.|SNOMEDCT_US|N|
C1708403|A tumor characterized by the presence of mature ganglion cells and neuronal differentiation, arising in the hypothalamus. It is often associated with the presence of pituitary gland adenomas. Symptoms include acromegaly and precocious puberty.|NCI|N|
C1708469|An increased number of myeloid precursors in the bone marrow.|NCI|N|
C1708483|Insufficient structural and functional connection between living bone and the surface of a synthetic implant.|NCI|N|
C1708484|Continuing discomfort due to a failure of current treatment.|NCI|N|
C1708488|Increased area under the plot of plasma concentration of a concomitant drug against time after its administration.|NCI|N|
C1708489|Increased period of time required for the concentration or amount of a concomitant drug in the body to be reduced to exactly one-half of a given concentration or amount.|NCI|N|
C1708490|An increase in the level of a concomitant drug.|NCI|N|
C1708491|Increased maximum (peak) concentration of a concomitant drug observed after its administration.|NCI|N|
C1708492|Increased area under the plot of plasma concentration of a drug against time after drug administration.|NCI|N|
C1708493|Increased maximum (peak) concentration of a drug observed after its administration.|NCI|N|
C1708494|Increased time following concomitant drug administration at which the peak drug blood concentration occurs.|NCI|N|
C1708495|Increased period of time required for the concentration or amount of drug in the body to be reduced to exactly one-half of a given concentration or amount.|NCI|N|
C1708498|Infection transmitted by water, food or other means of conveyance.|NCI|N|
C1708502|A cataract that has been produced artificially or by induction, e.g. as a result of device use, medication, trauma, tears, falls, accidental injury, etc.|NCI|N|
C1708511|The pattern in which a particular genetic trait or disorder is passed from one generation to the next.|HPO|N|
C1708512|Inhibition of Amyloidogenesis is a process that prevents the formation or growth of amyloid structures.|NCI|N|
C1708536|An intermediate grade malignant neoplasm with neuroendocrine differentiation that arises from the lung. This category includes atypical carcinoid tumor.|NCI|N|
C1708537|A borderline blood vessel neoplasm that has locally aggressive behavior.|NCI|N|
C1708539|A borderline blood vessel neoplasm that may metastasize on rare occasions.|NCI|N|
C1708545|A patient condition when action or ministration whose purpose is to improve health or to alter the course of a disease is considered essential and mandatory in order to prevent permanent impairment or damage.|NCI|N|
C1708549|A dissection of an artery that occurs though a tear in the inner lining of the blood vessel.|NCI|N|
C1708550|A malignant neoplasm arising from the large blood vessels. It is characterized by the presence of tumor cells that grow within the lumen of the blood vessels. The intraluminal tumor growth may result in vascular obstruction and spread of tumor emboli to peripheral organs. The prognosis is usually poor.|NCI|N|
C1708554|Infection within the eye.|NCI|N|
C1708556|Pain occurring during a surgical operation.|NCI|N|
C1708557|An epithelial neoplasm that arises from ectopic thymic tissue in the lung. Histologically it is identical to the thymomas that arise from the mediastinum. Signs and symptoms include cough, dyspnea, fever, and weight loss. Surgical excision is the recommended treatment.|NCI|N|
C1708558|The entry of a cell or foreign substance into a blood or lymphatic vessel. This process is pertinent to the description of the entry of cancer cells into a vessel, and the initiation of metastasis.|NCI|N|
C1708565|A melanoma of the skin that is not confined to the dermal-epidermal junction, and has infiltrated the dermis.|NCI|N|
C1708566|A carcinoma that is not confined to the prostatic epithelium but has spread to the surrounding stroma of the prostate gland. The vast majority of invasive prostate carcinomas are adenocarcinomas.|NCI|N|
C1708602|A squamous cell carcinoma that arises from the head and neck region and is characterized by prominent production of keratin.|NCI|N|
C1708603|A squamous cell carcinoma that arises from the paranasal sinuses and is characterized by prominent production of keratin.|NCI|N|
C1708604|A benign uni- or multicystic, intraosseous tumor of odontogenic origin, with a characteristic lining of parakeratinized stratified squamous epithelium and potential for aggressive, infiltrative behavior.|HPO|N|
C1708637|Having an appearance of thin plate-like structures.|NCI|N|
C1708648|A rare variant of squamous cell carcinoma that arises from the larynx. It is characterized by acantholysis of the tumor cells that results in the formation of pseudolumina that resemble glandular structures.|NCI|N|
C1708649|A rare, aggressive carcinoma that arises from the larynx. It is characterized by the presence of squamous cell carcinoma and adenocarcinoma components. Hoarseness, sore throat, and dysphagia are the presenting symptoms.|NCI|N|
C1708650|An aggressive variant of squamous cell carcinoma that arises from the pyriform sinus or supraglottic area. It is characterized by the presence of small malignant cells with hyperchromatic nuclei and scant amount of cytoplasm forming lobules with peripheral palisading. Comedonecrosis may be present. An in situ or invasive keratinizing squamous cell carcinoma component is always present. Signs and symptoms include hoarseness, dysphagia, pain, and neck mass.|NCI|N|
C1708653|A rare and aggressive carcinoma that arises from the larynx. It is characterized by the presence of an undifferentiated carcinoma accompanied by a prominent reactive lymphoplasmacytic infiltrate.|NCI|N|
C1708656|A carcinoma that arises from the larynx and is characterized by the presence of a malignant spindle cell cellular component and a squamous cell carcinoma component. The latter is either in situ or invasive squamous cell carcinoma.|NCI|N|
C1708666|The disturbance of a cusp of a heart valve, often resutling in dysfunction of the valve.|NCI|N|
C1708667|The disturbance of a cusp of a heart valve secondary to the accumulation of calcium on the valve tissue. This most often results in stenosis of the valve.|NCI|N|
C1708668|The disturbance of a cusp of a heart valve secondary to an increase in tissue mass at the valve site, which can lead to valve dysfunction. This often happens as a result of fibrosis of tissue surrounding the suture line of a prosthetic valve.|NCI|N|
C1708669|The disturbance of a cusp of a heart valve secondary to infection affecting the valve tissue, which can result in valvular dysfunction.|NCI|N|
C1708670|The disturbance of a cusp of a heart valve secondary to irritation by surgical sutures, which can result in valvular dysfunction.|NCI|N|
C1708671|The disturbance of a cusp of a heart valve without an identifiable cause.|NCI|N|
C1708680|A term referring to the number of anatomic sites affected by a disease.|NCI|N|
C1708716|A localized neoplasm of probable fibroblastic derivation, that arises from the pericardium. It is characterized by the presence of round to spindle-shaped cells, hylanized stroma formation, thin-walled branching blood vessels, and thin bands of collagen.|NCI|N|
C1708717|A localized hepatocellular carcinoma that occurs during adulthood and it is amenable to surgical resection.|NCI|N|
C1708718|A localized hepatocellular carcinoma that occurs during adulthood and it is not amenable to surgical resection.|NCI|N|
C1708719|A lesion that is locally destructive despite treatment.|NCI|N|
C1708739|A finding that the flexibility of a joint is below the expected range of normal for that individual.|NCI|N|
C1708742|A cytogenetic abnormality that refers to the loss of all or part of the long arm of chromosome 3 (3q).|NCI|N|
C1708747|A well differentiated mucinous neoplasm that arises from the appendix. It is characterized by slow growth and it is associated with the development of pseudomyxoma peritonei.|NCI|N|
C1708748|A morphologic finding indicating the presence of low grade colorectal epithelial dysplasia secondary to ulcerative colitis.|NCI|N|
C1708749|A low grade fibromyxoid sarcoma characterized by the presence of prominent collagen rosettes.|NCI|N|
C1708750|A low grade malignant neoplasm with neuroendocrine differentiation that arises from the lung. This category includes typical carcinoid tumor.|NCI|N|
C1708751|A low-grade malignant neoplasm arising from the soft tissue and rarely bone. It is characterized by the presence of spindle-shaped myofibroblasts and collagenous stroma formation in a storiform growth pattern. Metastasis is very rare.|NCI|N|
C1708765|The most frequently seen morphologic variant of lung adenocarcinoma characterized by a mixture of architectural patterns, including acinar, papillary, bronchioloalveolar, and solid pattern.|NCI|N|
C1708766|A carcinoid tumor of the lung showing focal necrotic changes or a number of mitotic figures between 2 and 10/10 high power fields.|NCI|N|
C1708767|A biphasic synovial sarcoma arising from the lungs.|NCI|N|
C1708769|A well differentiated morphologic variant of lung adenocarcinoma characterized by the predominance of clear cells.|NCI|N|
C1708770|A lung carcinoma arising within the bronchi or bronchial tubes. It is characterized by the presence of myoepithelial cells, spindle cells, clear cells, and duct-forming epithelial cells. Surgical resection may be curative.|NCI|N|
C1708771|A germ cell tumor that arises from the lung.|NCI|N|
C1708772|A benign papillary neoplasm that arises endobronchially. It is characterized by the presence of fibrovascular cores lined by columnar, cuboidal, and goblet cells. Patients usually present with signs and symptoms of bronchial obstruction. Complete resection is curative.|NCI|N|
C1708773|A rare malignant neoplasm that derives from melanocytes and arises from the lung in a patient with no history of previous melanoma and no evidence of melanoma in another site at the time of diagnosis. It usually presents as a solitary lesion and the prognosis is poor.|NCI|N|
C1708774|An exceedingly rare benign endobronchial neoplasm characterized by the presence of fibrovascular cores which are lined by both squamous and glandular epithelium. Patients present with obstructive symptoms. Complete resection is curative.|NCI|N|
C1708775|A monophasic synovial sarcoma arising from the lungs.|NCI|N|
C1708776|A morphologic variant of lung adenocarcinoma characterized by the presence of mucin pools containing islands of well differentiated adenocarcinoma cells.|NCI|N|
C1708777|A very rare, well circumscribed, benign cystic neoplasm that arises from the lung. It is characterized by the presence of cysts which are lined by tall mucinous epithelium and filled with mucin.|NCI|N|
C1708778|A lung carcinoma characterized by the presence of malignant non-keratinizing squamoid cells, mucin-producing cells and intermediate type cells.|NCI|N|
C1708780|A very rare, well circumscribed, benign epithelial neoplasm that arises from the bronchus. It is characterized by the presence of epithelial cells, myoepithelial cells, and fibromyxoid stroma.|NCI|N|
C1708781|A rare, aggressive, poorly differentiated, non-small cell lung carcinoma characterized by the presence of a sarcomatoid component often associated with giant cell differentiation. There is a male to female ratio of 4:1. Clinical symptoms include cough, hemoptysis, chest pain, progressive dyspnea and fever secondary to recurrent pneumonia. Cigarette smoking is a major risk factor.|NCI|N|
C1708782|A morphologic variant of lung adenocarcinoma characterized by the presence of signet ring cells.|NCI|N|
C1708783|A benign, intermediate, or malignant mesenchymal neoplasm that arises from the lung.|NCI|N|
C1708784|A morphologic variant of sarcomatoid carcinoma characterized by the presence of malignant spindle cells and focal lymphoplasmacytic infiltrates. Adenocarcinoma cells, malignant squamous cells, and giant cells are not present.|NCI|N|
C1708785|A papillary neoplasm that arises endobronchially. It is characterized by the presence of a delicate fibrovascular core lined by stratified squamous epithelium. Squamous cell papillomas can be solitary or multiple. Patients usually present with signs and symptoms of bronchial obstruction. Because of the possibility of recurrence and reported cases of squamous cell carcinomas arising at the excision site of squamous cell papillomas, complete excision is indicated.|NCI|N|
C1708786|A synovial sarcoma arising from the lungs.|NCI|N|
C1708788|A carcinoid tumor of the lung characterized by the absence of necrosis and the presence of less than 2 mitoses per 10 high power fields.|NCI|N|
C1708790|A term referring to the presence of tumor emboli or tumor masses within lymphatic vessels.|NCI|N|
C1708792|A rare and distinctive type of lung carcinoma characterized by the presence of a syncytial growth pattern, large vesicular nuclei with eosinophilic nucleoli, and dense lymphoplasmacytic infiltration.|NCI|N|
C1708833|Expression of a fusion protein that results from a translocation involving the human MOZ gene and various fusion gene partners. The fusion transcript is the result of the translocation of genetic material from any one of several chromosomes to the 8p11 region. This fusion protein is associated with acute myeloid leukemia.|NCI|N|
C1708851|A morphologic variant of papillary carcinoma of the thyroid gland characterized by the predominance or the exclusive presence of macrofollicles. Some of the malignant follicular cells display the nuclear features that characterize the papillary adenocarcinomas of the thyroid gland.|NCI|N|
C1708864|A germ cell tumor that affects the central nervous system, characterized by the presence of malignant morphologic characteristics. Representative examples include choriocarcinoma, embryonal carcinoma, and germinoma.|NCI|N|
C1708879|A malignant neoplasm that arises from germinative follicular epithelial cells.|NCI|N|
C1708881|A neoplasm that arises from the hair follicle and metastasizes to other anatomic sites.|NCI|N|
C1708889|A primary or metastatic malignant neoplasm that affects the lung and pleura.|NCI|N|
C1708896|A malignant neoplasm that arises from the outer hair sheath and infundibulum.|NCI|N|
C1708901|A malignant neoplasm involving the accessory urethral glands.|NCI|N|
C1708903|A rare malignant neoplasm that arises from the outer root sheath of the hair follicle. It usually occurs in the scalp, face and trunk. Histopathology shows cords of malignant squamous cells infiltrating into the dermis.|NCI|N|
C1708927|A pituitary neuroendocrine tumor composed of acidophilic cells that produce both growth hormone and prolactin. Immunohistochemical studies reveal the presence of these two hormones localized in the same cell.|NCI|N|
C1708945|Lymph nodes adherent to each other, usually a result of tumor spread.|NCI|N|
C1708954|A rare extragonadal germ cell tumor that arises from the mediastinum and is associated with the presence of a somatic-type malignant component. The somatic malignancy is usually a sarcoma (e.g., embryonal rhabdomyosarcoma, angiosarcoma, or leiomyosarcoma), adenocarcinoma, squamous cell carcinoma, adenosquamous carcinoma, or primitive neuroectodermal tumor. The prognosis is poor.|NCI|N|
C1708955|An extragonadal non-seminomatous malignant germ cell tumor that arises from the mediastinum and is associated with a hematologic malignancy. The hematologic malignancies are clonally related to the malignant germ cell tumor and include acute leukemias, myelodysplastic syndromes, myeloproliferative neoplasms, and mastocytosis.|NCI|N|
C1708956|A mass-forming malignant neoplasm that arises from the mediastinum and is characterized by the proliferation of myeloblasts or immature myeloid cells. It may present in association with or precede acute myeloid leukemia, or it may be the first manifestation of relapse of acute myeloid leukemia.|NCI|N|
C1708957|An extra-adrenal parasympathetic paraganglioma that arises from paraganglia in the mediastinum. Clinical signs and symptoms include chest pain, cough, hoarseness, and dysphagia.|NCI|N|
C1708958|A precursor T-lymphoblastic lymphoma that arises from the mediastinum. It usually presents with an anterior mediastinal mass and respiratory distress. It may present acutely with superior vena cava syndrome. It usually affects adolescent and young adult males. It is treated with aggressive chemotherapy and radiation. The prognosis is better in the pediatric patients.|NCI|N|
C1708959|A precursor T-cell lymphoid neoplasm composed of small to medium-sized lymphoblasts that affects the mediastinum.|NCI|N|
C1708960|A localized neoplasm of probable fibroblastic derivation, that arises from the mediastinum. It is characterized by the presence of round to spindle-shaped cells, hylanized stroma formation, thin-walled branching blood vessels, and thin bands of collagen.|NCI|N|
C1708961|An invasive or non-invasive thymoma that arises from the mediastinum. Thymomas are the most common anterior mediastinal tumors.|NCI|N|
C1708976|A morphologic finding indicating the presence of melanin-pigmented dendritic cells in a tumor sample.|NCI|N|
C1708980|A morphologic variant of chondrosarcoma arising from the bone. It is characterized by the presence of malignant small round cells, biphasic growth pattern, and well differentiated hyaline cartilage. Clinical presentation includes pain and swelling. The clinical course is aggressive, with local recurrences and distant metastases.|NCI|N|
C1708993|A rare type of well circumscribed or encapsulated thymoma with a biphasic architecture, consisting of epithelial cell islands and bundles of spindle cells. The vast majority of reported cases had a benign clinical course.|NCI|N|
C1708996|An extraskeletal myxoid chondrosarcoma which has spread to another anatomic site.|NCI|N|
C1709017|A finding of microcalcifications located within neoplastic tissue.|NCI|N|
C1709018|A finding of microcalcifications located within neoplastic tissue, and in tissues without neoplasm.|NCI|N|
C1709024|A rare type of thymoma characterized by the presence of multiple, well formed epithelial nodules separated by a lymphocytic stroma that usually contains germinal centers. Reported cases have not been associated with recurrences or metastases.|NCI|N|
C1709028|A rare type of thymoma, composed of multifocal epithelial proliferations less than 1 mm in diameter. This type of thymoma usually occurs in myasthenia gravis patients without any macroscopic (gross) evidence of tumor.|NCI|N|
C1709035|A thymoma that focally infiltrates the surrounding capsule and invades the mediastinal fat. This type of thymoma is usually recognized only after microscopic examination. Grossly, it appears indistinguishable from encapsulated thymoma.|NCI|N|
C1709043|A dose of medicine that was not taken at the prescribed dosing interval.|NCI|N|
C1709046|A change in the nucleotide sequence of any gene that encodes one of the proteins in the succinate dehydrogenase (SDH) complex.|NCI|N|
C1709050|A rare neuroendocrine neoplasm of pancreas characterized by morphologically recognizable neuroendocrine and non-neuroendocrine components, each constituting at least 30% of the tumor volume. Based on histopathology, mixed ductal- and mixed acinar-neuroendocrine carcinomas are distinguished. Patients usually present with unspecific symptoms related to tumor growth and/or metastasis, although occurrence of Zollinger-Ellison syndrome has been reported. Resectability of the tumor is the most important prognostic factor.|ORDO|N|
C1709051|Point mutations at various locations in a DNA sequence from eukaryotic or prokaryotic organisms in which a nucleotide substitution, deletion or insertion has occurred at each affected site. These abnormalities can be either heritable or occur somatically.|NCI|N|
C1709052|A pituitary neuroendocrine tumor composed of an admixture of acidophilic and chromophobic cells that produce growth hormone and prolactin, respectively. Unlike mammosomatotroph pituitary neuroendocrine tumors, these two hormones are not localized in the same cell by immunohistochemistry.|NCI|N|
C1709053|A rhabdomyosarcoma composed of embryonic and alveolar components. It is characterized by the presence of spindle cells with myoblastic differentiation, a myxoid stroma, and fibrous septa. These tumors were previously considered variants of alveolar rhabdomyosarcoma. The lack of PAX3-FOXO1 fusions in most of these tumors suggests that are biologically and clinically related to embryonal rhabdomyosarcoma.|NCI|N|
C1709071|A chromosomal abnormality consisting of the absence of a copy (homolog) of chromosome 3.|NCI|N|
C1709086|A finding indicating the presence of cellular immunohistochemical staining for two or more hormones.|NCI|N|
C1709089|A multicystic lesion that arises from the epithelial component of the thymus gland. It is usually associated with the presence of lymphoid follicles and degenerative changes. Although its etiology is unknown, it has been described in patients with HIV infection and in patients with nodular sclerosis Hodgkin lymphoma affecting the thymus gland.|NCI|N|
C1709092|Point mutations at various locations in a DNA sequence from either a eukaryotic or prokaryotic organism that causes a base change which results in an amino acid change in the protein product. This alteration may affect the stability and/or activity of the protein. Multiple mutation abnormalities may be heritable or occur spontaneously.|NCI|N|
C1709093|Multiple point mutations in a DNA sequence from eukaryotic or prokaryotic organisms in which each mutation occurs by substitution of a purine base for a different purine base or a pyrimidine base for another pyrimidine base. These abnormalities can be either heritable or occur somatically.|NCI|N|
C1709094|Multiple point mutations in a DNA sequence from eukaryotic or prokaryotic organisms in which each mutation occurs by substitution of a purine base for a pyrimidine base or vice versa. These abnormalities can be either heritable or occur somatically.|NCI|N|
C1709099|An involuntary, compulsive, repetitive stereotyped movement, usually of the face or shoulders.|NCI|N|
C1709101|A morphologic finding that indicates the presence of myofibroblastic differentiation in a cellular infiltrate of a tissue sample.|NCI|N|
C1709103|A low grade, locally aggressive, fibroblastic neoplasm that occurs primarily in the distal extremities. It is characterized by the presence of spindle-shaped fibroblasts, multivacuolated lipoblast-like cells, bizarre ganglion-like cells with inclusion-like nuclei, myxoid stroma formation, and a mixture of acute and chronic inflammatory cells. Distant metastases are very rare.|NCI|N|
C1709107|A general term that refers to a TNM finding of cancer metastases usually in a limited number of regional lymph nodes. The definition of N1c TNM finding depends on the specific type of cancer that it refers to; for example, for breast cancer it refers to metastases in 1 to 3 axillary lymph nodes and in internal mammary lymph nodes with micrometastases or macrometastases detected by sentinel lymph node biopsy but not clinically detected; for colorectal cancer it refers to tumor deposit(s) in the subserosa, mesentery, or nonperitonealized pericolic or perirectal tissues without regional lymph node metastasis.|NCI|N|
C1709108|A general term that refers to a TNM finding of cancer metastases in multiple lymph nodes. The definition of N3a TNM finding depends on the specific type of cancer that it refers to; for example, for breast cancer it refers to metastases in 10 or more axillary lymph nodes (at least one tumor deposit greater than 2.0 mm) or metastases to the infraclavicular (level III axillary) lymph nodes; for gastric cancer it refers to metastases in 7-15 regional lymph nodes; for nasopharyngeal cancer it refers to metastases to one or more lymph nodes greater than 6 cm in greatest dimension.|NCI|N|
C1709109|A general term that refers to a TNM finding of cancer metastases in multiple lymph nodes. The definition of N3b TNM finding depends on the specific type of cancer that it refers to; for example, for breast cancer it refers to metastases in clinically detected ipsilateral internal mammary lymph nodes in the presence of one or more positive axillary lymph nodes, or in more than 3 axillary lymph nodes and in internal mammary lymph nodes with micrometastases or macrometastases detected by sentinel lymph node biopsy but not clinically detected; for gastric cancer it refers to metastases in sixteen or more regional lymph nodes; for nasopharyngeal cancer it refers to extension to the supraclavicular fossa.|NCI|N|
C1709110|A general term that refers to a TNM finding of cancer metastases in multiple lymph nodes. The definition of N3c TNM finding depends on the specific type of cancer that it refers to; for example, for breast cancer it refers to metastases in ipsilateral supraclavicular lymph nodes.|NCI|N|
C1709126|A molecular genetic abnormality that refers to the mutation of the NF2 gene located at 22q12.2.|NCI|N|
C1709153|A nonkeratinizing nasopharyngeal carcinoma characterized by the presence of cells without prominent nucleoli, cellular stratification, and a lymphoplasmacytic infiltrate.|NCI|N|
C1709154|An extra-adrenal paraganglioma arising from the nasopharynx and nose. Epistaxis or nasal obstruction are common presenting symptoms.|NCI|N|
C1709157|Indicates the absence of tumor cells at the edge of a surgically excised specimen.|NCI|N|
C1709158|An abnormality that affects hearing within the first month after birth. It may or may not result in hearing loss.|NCI|N|
C1709166|A neoplastic process arising from the C-cells of the thyroid gland. It is considered a precursor of hereditary medullary thyroid gland carcinoma, and it is associated with mutations of the RET gene.|NCI|N|
C1709218|A finding in a tissue sample indicating the presence of epithelial cells that express neuroendocrine markers by immunohistochemistry (e.g., chromogranin A and neuron-specific enolase) and/or neurosecretory granules by electron microscopy.|NCI|N|
C1709219|A finding of pathologic function within the central or peripheral nervous system, secondary to developmental abnormalities, infections, neurologic damage, or tumors.|NCI|N|
C1709220|A desmoplastic melanoma characterized by the presence of nerve infiltration by atypical spindled melanocytes.|NCI|N|
C1709236|Diagnostic tests fail to detect presence of metastatic lesions.|NCI|N|
C1709237|No patient involvement when the adverse event occurred.|NCI|N|
C1709240|An adenoma of the adrenal cortex characterized by the absence of a hormonal syndrome or symptoms suggestive of adrenal disease.|NCI|N|
C1709241|An intermediate grade well differentiated neoplasm with neuroendocrine differentiation that arises from the pancreas. It is characterized by the absence of a hormone-related clinical syndrome.|NCI|N|
C1709243|A pathologic process that is not inherited in a familial pattern.|NCI|N|
C1709245|A non-neoplastic disorder that affects the anus. Representative examples include hemorrhoids, ulcers, and infections.|NCI|N|
C1709246|Any disorder other than abnormal tissue growth resulting from uncontrolled cell proliferation.|NCI|N|
C1709249|A non-neoplastic disorder that affects the esophagus. Representative examples include infections, ulcers, and gastroesophageal reflux disease.|NCI|N|
C1709250|A non-neoplastic disorder that affects the liver parenchyma and the intrahepatic bile ducts. Representative examples include hepatitis, cirrhosis, and cholangitis.|NCI|N|
C1709252|A non-neoplastic disorder that affects the pancreas. Representative examples include pancreatitis and pancreatic insufficiency.|NCI|N|
C1709253|A non-neoplastic disorder that causes a disturbance in normal vision. Representative examples include amblyopia, astigmatism, myopia, and cataracts.|NCI|N|
C1709257|An expected natural death from a cardiac cause. This condition usually occurs in persons with pre-existing cardiac abnormalities or disease.|NCI|N|
C1709261|An indication that a subject has not agreed with or followed the instructions related to the study medication.|NCI|N|
C1709263|Cancer that is not dependent upon the presence of estrogen for metastasis or growth. 2005|NCI|N|
C1709277|One of the possible results of an adverse event outcome that indicates that the event has not improved or recuperated.|NCI|N|
C1709285|Nucleoside Analogue Incorporation involves assimilation of nucleoside or nucleotide analogues into DNA or RNA.|NCI|N|
C1709286|A non-functioning pituitary neuroendocrine tumor without hormonal immunoreactivity or evidence of specific adenohypophyseal cell derivation.|NCI|N|
C1709308|A carcinoma that arises from the sebaceous glands of the ocular adnexa and sebaceous glands of the eyelid and caruncle.|NCI|N|
C1709312|A morphologic variant of papillary carcinoma of the thyroid gland characterized by the presence of papillary or follicular structures, containing malignant follicular cells with abundant granular eosinophilic cytoplasm. These cells have the nuclear features that characterize the papillary carcinomas of the thyroid gland.|NCI|N|
C1709350|A morphologic finding indicating the presence of bone elements in a tissue sample.|NCI|N|
C1709361|A neoplasm involving the outer hair sheath and infundibulum.|NCI|N|
C1709447|Paget disease involving the skin overlying the mammary gland, without accompanying invasive ductal or lobular breast carcinoma.|NCI|N|
C1709454|A non-functioning pancreatic neuroendocrine tumor measuring less than 0.5 cm in diameter.|NCI|N|
C1709457|A papillary carcinoma of the thyroid gland measuring 10mm or less in diameter. The survival rates of patients with this type of carcinoma are the same with those of the normal population.|NCI|N|
C1709465|A parathyroid gland tumor that shares certain morphologic characteristics with parathyroid gland carcinomas (e.g. broad fibrous bands formation with or without hemosiderin deposition, presence of mitotic figures) but lacks unequivocal evidence of capsular or vascular invasion. It is considered a tumor of uncertain malignant potential. (WHO)|NCI|N|
C1709467|A parathyroid gland adenoma that contains mature adipocytes.|NCI|N|
C1709469|A benign or malignant, primary or metastatic neoplasm affecting the accessory urethral gland.|NCI|N|
C1709477|A pathologic finding about one or more characteristics of a specific cancer, following the rules of the TNM classification system as they pertain to evaluating distant metastases.|NCI|N|
C1709478|A pathologic finding about one or more characteristics of a specific cancer, following the rules of the TNM classification system as they pertain to evaluating the primary tumor.|NCI|N|
C1709479|A pathologic finding about one or more characteristics of a specific cancer, following the rules of the TNM classification system as they pertain to evaluating regional lymph nodes.|NCI|N|
C1709480|A TNM finding obtained following the microscopic examination of a specimen.|NCI|N|
C1709503|A rare benign or malignant germ cell tumor that arises from the pericardium. The reported cases have been teratomas and yolk sac tumors.|NCI|N|
C1709507|A localized or multifocal mesothelial neoplasm arising from the peritoneum. It predominantly occurs in women. It is characterized by the formation of papillae, covered by a single layer of blunt mesothelial cells. Mitotic figures are not present. There is no evidence of severe cytologic atypia. It has a relatively favorable clinical outcome, compared to diffuse malignant mesothelioma.|NCI|N|
C1709509|An adverse event that extends continuously, without resolution between treatment cycles or courses.|NCI|N|
C1709520|Processes that effect the level of a drug in the body.|NCI|N|
C1709521|The outcome that results from chemical interactions between a drug and another drug or food.|NCI|N|
C1709527|A subset of acute lymphoblastic leukemia that results from a reciprocal translocation between the ABL-1 oncogene and a breakpoint cluster region (BCR), resulting in a fusion gene, BCR-ABL, that encodes an oncogenic protein with constitutively active tyrosine kinase activity.|HPO|N|
C1709528|An objective visual sensation that appears with the eyes closed and in the absence of visual light.|NCI|N|
C1709539|A mesenchymal neoplasm arising from the pilar sheath of the hair follicle.|NCI|N|
C1709540|A cutaneous leiomyoma arising from the arrector pili muscle.|NCI|N|
C1709552|A pituitary neuroendocrine tumor with a diameter equal or less than 10 mm.|NCI|N|
C1709568|A morphologic variant of hepatocellular carcinoma, characterized by the presence of malignant cells which show marked variation in their size and shape. Bizarre mononuclear or multinucleated giant cells are often present.|NCI|N|
C1709569|A non-metastasizing soft tissue neoplasm characterized by the presence of a neoplastic stroma containing spindle cells, dilated thin-walled vessels lined by fibrin, and a chronic inflammatory infiltrate. The majority of cases develop in the subcutaneous tissues usually in the lower extremities and present as slow growing masses. Recurrences occur in approximately half of the cases.|NCI|N|
C1709570|Malignant mesothelioma that arises from the pleura. It is characterized by the presence of epithelioid and sarcomatoid components, with each component representing at least 10% of the tumor.|NCI|N|
C1709571|A biphasic synovial sarcoma arising in the pleural cavity.|NCI|N|
C1709572|Malignant mesothelioma that arises from the pleura. It is characterized by the presence of dense collagenized stroma occupying at least 50% of the tumor. The malignant cells are arranged in a vague storiform pattern.|NCI|N|
C1709573|A low-grade malignant blood vessel neoplasm arising from the pleura. It is characterized by the presence of epithelioid endothelial cells. The neoplastic cells are arranged in cords and nests, which are embedded in a myxoid to hyalinized stroma.|NCI|N|
C1709574|Malignant mesothelioma that arises from the pleura. It is characterized by the presence of cells with epithelioid morphology. The epithelioid cells usually have eosinophilic cytoplasm, bland nuclei, and form tubulopapillary, microglandular, or sheet-like patterns.|NCI|N|
C1709575|A rare extranodal lymphoma that arises from the pleura with no evidence of involvement of other sites at the time of diagnosis. This category includes primary effusion lymphoma and pyothorax-associated lymphoma.|NCI|N|
C1709576|A mass in the pleura seen on chest imaging is defined as an opacity greater than 3 cm in diameter (without regard to contour, border, or density characteristics).|HPO|N|
C1709577|A monophasic synovial sarcoma arising in the pleural cavity.|NCI|N|
C1709578|Malignant mesothelioma that arises from the pleura. It is characterized by the presence of spindle cells. Anaplastic morphologic features and multinucleated malignant cells may also be seen.|NCI|N|
C1709579|A synovial sarcoma arising in the pleural cavity.|NCI|N|
C1709580|A rare, non-invasive, localized or multifocal mesothelial neoplasm that arises from the pleura. It is characterized by the presence of papillae with myxoid fibrovascular cores, lined by a single layer of mesothelial cells. The clinical course is usually indolent.|NCI|N|
C1709584|A pituitary neuroendocrine tumor that expresses adenohypophyseal hormones and belongs to more than one adenohypophysial cell lineage.|NCI|N|
C1709592|An intermediate, rarely metastasizing blood vessel neoplasm. It is characterized by the presence of a polymorphic cellular infiltrate.|NCI|N|
C1709603|Indicates the presence of tumor cells at the edge of a surgically excised specimen.|NCI|N|
C1709608|A tear in the capsular bag housing the lens of the eye.|NCI|N|
C1709611|A high grade osteosarcoma arising in an irradiated bone.|NCI|N|
C1709650|The state before the onset or development of clinical disease. Persons who have presymptomatic cancer already have developed the disease of cancer, which is in a pre-clinical state. 2005|NCI|N|
C1709656|A rare, aggressive, primary cutaneous B-cell lymphoma characterized by rapidly progressive, red to bluish, often ulcerating, nodular tumors predominantly involving the lower legs. Histology shows sheets of centroblasts and immunoblasts that spare the epidermis, but infiltrate the dermis and subcutaneous tissues, and often disseminate extracutaneously. The neoplastic cells typically express CD20, CD79a, Bcl-2, MUM-1, and FOXP1, but are negative for CD10.|ORDO|N|
C1709657|A rare type of primary cutaneous diffuse large B-cell lymphoma that does not belong in the group of primary cutaneous diffuse large B-cell lymphomas, leg type, or the group of primary cutaneous follicle center lymphomas. It includes subtypes/entities of diffuse large B-cell lymphoma (e.g. intravascular large B-cell lymphoma, plasmablastic lymphoma, T-cell/histiocyte rich lymphoma) that can involve the skin as the primary anatomic site. Such cases, unlike their nodal counterparts, usually have an excellent prognosis.|NCI|N|
C1709658|Intravascular large B-cell lymphoma that arises from the skin.|NCI|N|
C1709659|Plasmablastic lymphoma that arises from the skin.|NCI|N|
C1709660|T-Cell/histiocyte-rich large B-cell lymphoma that arises from the skin.|NCI|N|
C1709661|Focal scarring of the glomerulus, which may result in isolated proteinuria or nephrotic syndrome, which affects only part of the glomerulus and only some of the glomeruli. The condition is considered primary in cases for which no underlying cause has been identified.|NCI|N|
C1709663|A squamous cell carcinoma that arises centrally from the jaw. It derives from odontogenic epithelial remnants. It includes solid type squamous cell carcinoma, squamous cell carcinoma that arises from an odontogenic cyst, and squamous cell carcinoma that derives from a keratocystic odontogenic tumor.|NCI|N|
C1709664|A rare, well-differentiated, keratinizing squamous cell carcinoma that arises centrally from the jaw and is associated with the presence of a keratocystic odontogenic tumor.|NCI|N|
C1709668|Referring to the fact that the original site of growth of a metastatic cancer is unknown or uncertain.|NCI|N|
C1709710|A clinical finding about one or more characteristics of prostate cancer, following the rules of the TNM AJCC v6 classification system. TNM clinical findings are based on information obtained prior to the first definitive treatment through physical examination, diagnostic imaging, endoscopy, biopsy or laboratory testing.|NCI|N|
C1709714|A pathologic finding about one or more characteristics of prostate cancer, following the rules of the TNM AJCC v6 classification system. TNM pathologic findings are based on clinical findings supplemented by histopathologic examination of one or more tissue specimens acquired during surgery.|NCI|N|
C1709716|Prostate cancer with no evidence of distant metastasis. (from AJCC 6th Ed.)|NCI|N|
C1709717|Prostate cancer with distant metastasis. (from AJCC 6th and 7th Eds.)|NCI|N|
C1709718|Prostate cancer with metastasis to non-regional lymph node(s). (from AJCC 6th and 7th Eds.)|NCI|N|
C1709719|Prostate cancer with metastasis to bone(s). (from AJCC 6th and 7th Eds.)|NCI|N|
C1709720|Prostate cancer with metastasis to other site(s) with or without bone disease. (from AJCC 6th and 7th Eds.)|NCI|N|
C1709722|Prostate cancer with no positive regional nodes. (from AJCC 6th and 7th Eds.)|NCI|N|
C1709723|Prostate cancer with metastases in regional node(s). (from AJCC 6th and 7th Eds.)|NCI|N|
C1709724|Prostate cancer in which the regional lymph nodes were not sampled. (from AJCC 6th and 7th Eds.)|NCI|N|
C1709725|Prostate cancer confined to the prostate gland. (from AJCC 6th and 7th Eds.)|NCI|N|
C1709726|Prostate cancer limited to one-half or less of one lobe of the prostate gland. (from AJCC 6th and 7th Eds.)|NCI|N|
C1709727|Prostate cancer involving more than one-half of one lobe, but not both lobes of the prostate gland. (from AJCC 6th and 7th Eds.)|NCI|N|
C1709728|Prostate cancer involving both lobes of the prostate gland. (from AJCC 6th and 7th Eds.)|NCI|N|
C1709729|Prostate cancer with extraprostatic extension. (from AJCC 6th and 7th Eds.)|NCI|N|
C1709731|Prostate cancer with seminal vesicle invasion. (from AJCC 6th and 7th Eds.)|NCI|N|
C1709735|The formation of a blood clot that is attached to or near an artificial heart valve; this can cause dysfunction of the valve, and possibly lead to an embolic event should the thrombus become dislodged.|NCI|N|
C1709742|A change in the amino acid sequence of a wild-type protein, resulting from aberrant excision of in-frame protein sequences (inteins) from a precursor protein followed by ligation of the flanking sequences (exteins).|NCI|N|
C1709770|Impaired or abnormal functioning of the pulmonary system.|NCI|N|
C1709775|Mastocytosis that manifests with pure cutaneous involvement.|NCI|N|
C1709781|An aggressive diffuse large B-cell lymphoma arising in the pleural cavity of patients with a history of long standing pyothorax. Patients present with chest and back pain, fever, productive cough, dyspnea, and hemoptysis.|NCI|N|
C1709787|Fever reaction due to the presence of bacterial endotoxins.|NCI|N|
C1709789|An electrocardiographic finding of a QS wave, which is atypical.|NCI|N|
C1709795|An outcome or conclusion that can be arrived at by measurement.|NCI|N|
C1709812|A change in the nucleotide sequence of the RECQL4 gene.|NCI|N|
C1709815|A gene rearrangement involving the RET proto-oncogene. RET gene rearrangements are associated with several different neoplastic conditions.|NCI|N|
C1709831|A non-neoplastic disorder arising in an anatomic site exposed to radiation.|NCI|N|
C1709832|A higher than intended cumulative dose of radiation to a single field.|NCI|N|
C1709833|The complex of symptoms characterizing the disease known as radiation injury, resulting from excessive exposure (greater than 200 rads or 2 gray) of the whole body (or large part) to ionizing radiation. The earliest of these symptoms are nausea, fatigue, vomiting, and diarrhea, which may be followed by epilation, hemorrhage, inflammation of the mouth and throat, and general loss of energy. In severe cases, where the radiation exposure has been approximately 1000 Rad (10 gray) or more, death may occur within two to four weeks. Those who survive six weeks after the receipt of a single large dose of radiation to the whole body may generally be expected to recover. (U.S. Nuclear Regulatory Commission).|NCI|N|
C1709835|The use of compounds targeting anatomic structures to enhance radiation cytotoxicity.|NCI|N|
C1709838|A non-neoplastic disorder that is rare.|NCI|N|
C1709844|A non-neoplastic proliferation of C-cells in the thyroid gland caused by external stimuli such as hypercalcemia and chronic lymphocytic thyroiditis.|NCI|N|
C1709852|A multicellular process that regulates the extent of response to a stimulus either by modulation of active receptors or inhibition of intracellular catalytic activities that are initiated by receptor activation.|NCI|N|
C1709853|A multicellular process that regulates the number of tyrosine kinase-associated transmembrane receptors, by means of increased internalization or decreased expression of the transmembrane receptor. This process is involved in dampening the response to extracellular signals.|NCI|N|
C1709862|One of the possible results of an adverse event outcome where the subject recuperated but retained pathological conditions resulting from the prior disease or injury.|NCI|N|
C1709863|One of the possible results of an adverse event outcome that indicates that the event has improved or recuperated.|NCI|N|
C1709865|An unusual rectal carcinoma characterized by the presence of glandular and squamous carcinomatous components. The two carcinomatous components may be admixed within the tumor, or the two may appear separately in different areas.|NCI|N|
C1709867|An invasive adenocarcinoma of the rectosigmoid area characterized by the presence of pools of extracellular mucin. Malignant glandular epithelial cells are present in the mucin collections. Mucin constitutes more than 50% of the lesion.|NCI|N|
C1709869|An infiltrating adenocarcinoma arising from the rectosigmoid area. It is characterized by the presence of malignant glandular cells with prominent intracytoplasmic mucin. These cells constitute more than 50% of the malignant cellular population.|NCI|N|
C1709870|TNM staging performed for recurrent cancer.|NCI|N|
C1709871|Reemergence of extraskeletal myxoid chondrosarcoma after a period of remission|NCI|N|
C1709872|The reemergence of pheochromocytoma following surgical removal.|NCI|N|
C1709873|The reemergence of a pituitary gland neoplasm after a period of remission.|NCI|N|
C1709874|An adverse event that occurs and resolves during a cycle or course of medical intervention and then reoccurs in a later cycle or course.|NCI|N|
C1709881|A T-cell non-Hodgkin lymphoma that arises from the skin and does not respond to treatment.|NCI|N|
C1709882|Tumor implant developed regionally to the primary site of cancer.|NCI|N|
C1709884|A pheochromocytoma that has not spread to other regions.|NCI|N|
C1709929|An inherited change of a single base in a DNA sequence from an organism that changes the specific pattern of bases recognized and hydrolyzed by a restriction endonuclease enzyme. Restriction site polymorphisms can either create or abolish recognition sites for restriction enzymes.|NCI|N|
C1709932|Any environment-to-cell communication in which the ligand retinoic acid binds to intracellular retinoic acid receptors. This process is involved in embryonic developmental patterning.|NCI|N|
C1709933|A process that involves the binding of a retinoid to an intracellular retinoid receptor. These interactions have diverse functions throughout the body, including roles in vision, activation of tumor suppressor genes, and regulation of cell proliferation, differentiation and immune function.|NCI|N|
C1709957|Ribosomal Function Inhibition is a process that prevents normal translation, typically by interfering with ribosomal protein subunits or RNA components.|NCI|N|
C1709980|A change in the nucleotide sequence of the SDHB gene.|NCI|N|
C1709981|A change in the nucleotide sequence of the SDHC gene.|NCI|N|
C1709982|A change in the nucleotide sequence of the SDHD gene.|NCI|N|
C1709998|The expression of fusion proteins that result from a chromosomal aberration, t(X;18)(p11.2;q11.2), which fuses the first 10 exons of the SS18 gene with exon six of one of three SSX genes (SSX1, SSX2 or SSX4) and is associated with synovial sarcoma.|NCI|N|
C1710016|Additional, separate neoplastic nodules surrounding a central neoplastic lesion.|NCI|N|
C1710022|A morphologic finding that refers to a structure that consists of a central vessel surrounded by tumor cells. This cell-vessel structure is contained in a cystic space. It is found in approximately 50% of yolk sac tumors.|NCI|N|
C1710026|A well-circumscribed malignant fibroblastic neoplasm that usually arises from the soft tissue. It is characterized by the presence of nests of malignant epithelioid fibroblasts and sclerotic collagen stroma formation.|NCI|N|
C1710027|A rare type of thymoma, characterized by an exuberant amount of collagen-rich stroma.|NCI|N|
C1710040|Focal segmental glomerulosclerosis due to another medical condition.|NCI|N|
C1710042|An osteosarcoma arising from a pre-existing lesion of the bone, usually Paget disease, or due to radiation therapy.|NCI|N|
C1710057|The common saw-tooth architectural pattern observed within hyperplastic polyps.|NCI|N|
C1710067|A rare adenoma of the adrenal cortex that produces androgens or estrogens.|NCI|N|
C1710095|A carcinoma arising from the nasal cavity or paranasal sinuses.|NCI|N|
C1710096|A rare, highly aggressive carcinoma that arises from the sinonasal tract. It is characterized by the presence of small to medium size malignant cells. The prognosis is poor.|NCI|N|
C1710103|An uncommon carcinoma that arises from the skin. It is characterized by the presence of malignant glandular and malignant squamous cellular components.|NCI|N|
C1710105|A cavernous hemangioma arising from the skin.|NCI|N|
C1710109|An invasive adenocarcinoma that arises from the small intestine. It is composed of malignant glandular cells which contain intracytoplasmic mucin. Often, the infiltrating glandular structures are associated with mucoid stromal formation.|NCI|N|
C1710110|An invasive adenocarcinoma that arises from the small intestine. It is characterized by the presence of malignant glandular cells in which the nucleus is pressed to one side by the presence of intracytoplasmic mucus.|NCI|N|
C1710111|Squamous cell carcinoma of the small intestine is an extremely rare, malignant, epithelial tumor of the small intestine (most often localized in the duodenum). Presenting symptoms are often nonspecific, such as weight loss, epigastric pain, anorexia, weakness, fatigue, vomiting and abdominal distension, and vary depending on localization of the tumor. Gastrointestinal bleeding and perforation may occur in advanced cases.|ORDO|N|
C1710112|A usually polypoid neoplasm that arises from the glandular epithelium of the small intestine. It is characterized by a tubular architectural pattern. The neoplastic glandular cells have dysplastic features.|NCI|N|
C1710113|A neoplasm that arises from the glandular epithelium of the small intestine. It is characterized by tubular and villous architectural patterns. The neoplastic glandular cells have dysplastic features.|NCI|N|
C1710114|A carcinoma that arises from the small intestine. It is composed of malignant epithelial cells which do not display evidence of glandular, squamous, or transitional cell differentiation.|NCI|N|
C1710115|A neoplasm that arises from the glandular epithelium of the small intestine. It is characterized by a villous architectural pattern. The neoplastic glandular cells have dysplastic features.|NCI|N|
C1710124|A morphologic variant of angioleiomyoma characterized by the presence of numerous small, slit-like vascular channels.|NCI|N|
C1710125|The most common morphologic variant of glomus tumor. It is characterized by the presence of a nest of glomus cells surrounding capillary sized vessels.|NCI|N|
C1710126|An osteochondroma affecting a single anatomical site.|NCI|N|
C1710139|A prolactin-producing pituitary neuroendocrine tumor composed of relatively large, chromophobic or slightly acidophilic cells with well developed, abundant endoplasmic reticulum, and many immature secretory granules. Mature secretory granules are sparse.|NCI|N|
C1710140|A growth hormone-producing pituitary neuroendocrine tumor composed of small, round cells containing fibrous bodies and scarce, small secretory granules.|NCI|N|
C1710146|A chronic adhesive arachnoiditis in the spinal arachnoid, with root and spinal cord symptoms similar to those caused by pressure from a tumor.|NCI|N|
C1710164|A cylindroma occurring as a solitary sporadic lesion.|NCI|N|
C1710165|A sporadic adenocarcinoma that arises from the gastric mucosa and is characterized by the presence of poorly cohesive malignant cells and absence of glandular formations.|NCI|N|
C1710166|A non-hereditary medullary carcinoma of the thyroid gland not associated with multiple endocrine neoplasia. The majority of thyroid gland medullary carcinomas are sporadic.|NCI|N|
C1710167|A sporadic thyroid gland medullary carcinoma measuring less than 10mm in diameter.|NCI|N|
C1710173|A morphologic variant of squamous cell lung carcinoma characterized by nuclear palisading.|NCI|N|
C1710174|A morphologic variant of squamous cell lung carcinoma characterized by the presence of clear cells.|NCI|N|
C1710175|A morphologic variant of squamous cell lung carcinoma characterized by the presence of papillary structures.|NCI|N|
C1710176|A poorly differentiated morphologic variant of squamous cell lung carcinoma characterized by the presence of small tumor cells with focal squamous differentiation.|NCI|N|
C1710177|Thyroid gland anaplastic carcinoma with focal or complete squamous differentiation. Primary thyroid gland squamous cell carcinomas have similar poor overall survival rates as compared to conventional anaplastic thyroid gland carcinomas and are now considered a subtype of the latter.|NCI|N|
C1710178|Condition where there are a greater number of inhalations relative to the number of exhalations.|NCI|N|
C1710225|A self-limiting, rapidly growing, non-encapsulated benign neoplasm arising from the subcutaneous tissues. It is characterized by the growth of plump spindle-shaped fibroblasts in a storiform pattern, multinucleated osteoclast-like giant cells, red blood cell extravasation, chronic inflammatory cells, and high mitotic activity.|NCI|N|
C1710248|Decentration, or malposition of intraocular lens; zonular dehiscence or lens malposition caused by zonular or parsplana fixation.|NCI|N|
C1710249|A benign epithelial neoplasm occurring in the head, neck or back region. It is characterized by proliferation of basaloid cells in the upper dermis with broad attachments to the epidermis.|NCI|N|
C1710250|An extra-adrenal sympathetic paraganglioma arising from paraganglia located along the aorta, including suprarenal, infrarenal, and renal hilar sites. In functional tumors, the hypersecretion of catecholamines results in hypertension.|NCI|N|
C1710256|Surgical procedure unable to be completed when originally scheduled and put off until some time in the future.|NCI|N|
C1710257|Termination of a surgical intervention.|NCI|N|
C1710262|Wearing away of the surface of a suture as a result of bending and frictional forces.|NCI|N|
C1710329|A molecular abnormality indicating rearrangement of the NTRK1 gene.|NCI|N|
C1710347|An inherited polymorphism in eukaryotic DNA that results from variations in the number of tandem repeat nucleotide sequences, which are end-to-end adjacent copies of a short (2 to 60 nucleotides) DNA sequence located between two restriction endonuclease recognition sites. These are referred to as variable number of tandem repeats (VNTR), and the number of alleles at these loci can vary from 2 to more than 20. VNTRs provide important genetic information that is used to identify an individual via the DNA fingerprinting technique.|NCI|N|
C1710382|The finding of bodily harm due to the poisonous effects associated with the action or administration of therapeutic agents.|NCI|N|
C1710396|A primary thymic carcinoid tumor, characterized by a high mitotic rate often associated with the presence of necrosis and nuclear pleomorphism. This type of thymic carcinoid tumor has a more aggressive clinical course, compared to typical thymic carcinoid tumors.|NCI|N|
C1710400|A benign thymic tumor morphologically resembling fibroadenoma of the breast.|NCI|N|
C1710402|A low-grade extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue that affects the thymus. It is characterized by the presence of centrocyte-like or monocytoid lymphocytes that surround reactive lymphoid follicles. There is infiltration of the thymic epithelium by lymphocytes and formation of lymphoepithelial lesions. It is associated with the presence of autoimmune disease, most frequently Sjogren syndrome. Patients are usually asymptomatic and the tumor is detected incidentally as a mediastinal mass on chest x-ray. A minority of patients present with dyspnea, hemoptysis, and chest pain. The prognosis is excellent.|NCI|N|
C1710403|A primary thymic carcinoid tumor, characterized by the presence of uniform, polygonal neoplastic cells, a low mitotic rate, and absence of necrosis.|NCI|N|
C1710404|A point mutation involving the substitution of Adenosine (a purine base) for Thymidine (a pyrimidine base) in a DNA sequence from eukaryotic or prokaryotic organisms. This abnormality can be either heritable or occur somatically.|NCI|N|
C1710405|A point mutation involving the substitution of Cytosine (a pyrimidine base) for Thymidine (a pyrimidine base) in a DNA sequence from eukaryotic or prokaryotic organisms. This abnormality can be either heritable or occur somatically.|NCI|N|
C1710406|A point mutation involving the substitution of Guanosine (a purine base) for Thymidine (a pyrimidine base) in a DNA sequence from eukaryotic or prokaryotic organisms. This abnormality can be either heritable or occur somatically.|NCI|N|
C1710409|A thyroid gland adenoma composed of follicular cells with cytoplasmic clearing.|NCI|N|
C1710411|A thyroid gland adenoma containing follicular cells with large hyperchromatic nuclei. The clinical course is benign.|NCI|N|
C1710412|A thyroid gland adenoma characterized by the presence of papillae lined by cells that range from cuboidal to columnar. The papillae are usually cystic and non-branching. Aggregates of follicles may be found within the papillary structures.|NCI|N|
C1710413|A thyroid gland adenoma composed of follicular structures and mature adipocytes.|NCI|N|
C1710414|A primary carcinoma of the thyroid gland containing a medullary carcinoma component that is immunohistochemically positive for calcitonin, and papillary carcinoma component that is immunohistochemically positive for thyroglobulin.|NCI|N|
C1710415|A thyroid gland adenoma composed of follicles and characterized by the presence of abundant extracellular mucin.|NCI|N|
C1710416|A rare, circumscribed or encapsulated neuroendocrine tumor arising from the thyroid gland. Microscopically, it is characterized by the presence of tumor cells arranged in a nesting (Zellballen) growth pattern. The reported cases have followed a benign clinical course.|NCI|N|
C1710417|A thyroid gland adenoma characterized by the presence of signet ring cells that stain positive for thyroglobulin.|NCI|N|
C1710418|A teratoma that arises from the thyroid gland. Thyroid gland teratomas with high grade/malignant histological features carry DICER1 gene mutations and have been reclassified as thyroblastomas. They are no longer considered true teratomas.|NCI|N|
C1710419|A thyroid gland adenoma producing thyroxin. It is associated with hyperthyroidism. Radioactive iodine scan reveals a hot nodule.|NCI|N|
C1710429|Environmental, occupational, or consumer-based exposure to airborne gases and particulates produced by direct or nearby use of a vaporized or combusted tobacco product.|NCI|N|
C1710467|An abnormality that results from a functional change in the mRNA sequence at the translation initiation codon. In eukaryotic organisms, the initiation codon is always AUG. A mutation in either DNA or corresponding mRNA that alters this initiation sequence causes termination of mRNA translation. No functional protein product is synthesized when a translation initiation abnormality exists.|NCI|N|
C1710498|A biologic subset of diffuse large B-cell lymphomas (DLBCL) that do not overexpress the genes whose overexpression characterizes the germinal center B-cell-like and activated B-cell-like DLBCL. Morphologically, these lymphomas are either immunoblastic or centroblastic. Patients with this type of diffuse large B-cell lymphoma are reported to have a less favorable outcome, similar to those with an activated B-cell-like gene expression profile.|NCI|N|
C1710499|A pleuropulmonary blastoma characterized by a solid pattern and sarcomatous features. It usually follows an aggressive clinical course.|NCI|N|
C1710500|A pleuropulmonary blastoma composed of malignant small cells and characterized by the presence of a sarcomatous component. It usually follows an aggressive clinical course.|NCI|N|
C1710501|A pleuropulmonary blastoma composed of malignant small cells. Sarcomatous features are absent.|NCI|N|
C1710523|A UV Mutation Abnormality is an altered heritable state of the genetic DNA nucleotide sequence caused by exposure to ultraviolet light (UV) that results mostly in the formation of cyclobutane pyrimidine dimers and (6-4) photoproducts. UV-damaged DNA interferes with DNA replication and transcription, and can lead to cell killing or mutagenesis if the damage is not properly repaired.|NCI|N|
C1710531|Changes in the fluid pressure inside the eye.|NCI|N|
C1710534|Unintended reaction in nervous system caused by electrical stimulation.|NCI|N|
C1710535|An infiltrating high grade mesenchymal tumor arising from the uterine corpus, cervix, vagina, and the ovary.|NCI|N|
C1710544|A lesion arising from or having a single location.|NCI|N|
C1710547|Breast carcinoma of one breast, or one side of the breast.|NCI|N|
C1710592|Expression of a fusion protein that results from the translocation mutation t(V;11)(v;q23), which involves the human MLL gene and various fusion gene partners. The fusion transcript is the result of the translocation of genetic material from any one of several chromosomes to the 11q23 region. This fusion protein is associated with acute myelomonocytic leukemia.|NCI|N|
C1710609|An angiomyofibroblastoma arising from the vagina.|NCI|N|
C1710621|Sudden drop of the blood pressure, bradycardia, and peripheral vasodilation that may lead to loss of consciousness. It results from an increase in the activity of the vagus nerve. It may be triggered by emotions of fear or pain or gastrointestinal upset and may be relieved by lying down while keeping the legs elevated.|NCI|N|
C1710624|A morphologic variant of angioleiomyoma characterized by the presence of thick-walled veins.|NCI|N|
C1710625|A term referring to the presence of tumor emboli or tumor masses within veins.|NCI|N|
C1710629|A cardiac myxoma arising from the ventricle.|NCI|N|
C1710641|An angiomyofibroblastoma arising from the vulva.|NCI|N|
C1710668|An intermediate grade well differentiated neoplasm with neuroendocrine differentiation that arises from the pancreas. The mitotic count is 2-20 per 10 HPF and/or the Ki67 index is 3-20%.|NCI|N|
C1710673|A thymoma that spreads by direct extension into adjacent tissues (lung, pericardium, or large vessels). This type of thymoma usually appears invasive at the time of excision.|NCI|N|
C1711106|A molecular genetic abnormality indicating the presence of multiple copies of the MET gene.|NCI|N|
C1711107|A change in the nucleotide sequence of the MYC gene.|NCI|N|
C1711115|A pathologic primary tumor TNM finding. The definition of PM1a finding depends on the particular type of cancer that it refers to; for example, for bladder cancer, PM1a finding is defined as follows: cancer with distant metastasis limited to lymph nodes beyond the common iliacs. (from AJCC 8th Ed.)|NCI|N|
C1711116|A pathologic primary tumor TNM finding. The definition of PM1b TNM finding depends on the particular type of cancer that it refers to; for example, for lung cancer, PM1b TNM finding is defined as follows: cancer with single extrathoracic metastasis in a single organ (including involvement of a single nonregional node). (from AJCC 8th Ed.)|NCI|N|
C1711117|A pathologic primary tumor TNM finding. The definition of PM1c finding depends on the particular type of cancer that it refers to; for example, for prostate cancer, PM1c TNM finding is defined as follows: cancer with metastasis to other site(s) with or without bone disease. (from AJCC 8th Ed.)|NCI|N|
C1711118|A pathologic regional lymph node TNM finding. The definition of pN1a finding depends on the particular type of cancer that it refers to; for example, for breast cancer, pN1a finding is defined as follows: cancer with metastases in 1-3 axillary lymph nodes, at least one metastasis larger than 2.0 mm. (from AJCC 8th Ed.)|NCI|N|
C1711119|A pathologic regional lymph node TNM finding. The definition of pN1b finding depends on the particular type of cancer that it refers to; for example, for breast cancer, pN1b finding is defined as follows: cancer with metastasis in internal mammary lymph nodes with microscopic disease detected by sentinel lymph node dissection but not clinically apparent. (from AJCC 6th Ed.)|NCI|N|
C1711120|A pathologic regional lymph node TNM finding. The definition of pN1c finding depends on the particular type of cancer that it refers to; for example, for breast cancer, pN1c finding is defined as follows: cancer with metastasis in 1 to 3 axillary lymph nodes and in internal mammary nodes with microscopic disease detected by sentinel lymph node dissection but not clinically apparent. (from AJCC 6th Ed.)|NCI|N|
C1711121|A pathologic regional lymph node TNM finding. The definition of pN2a finding depends on the particular type of cancer that it refers to; for example, for breast cancer, pN2a finding is defined as follows: cancer with metastasis in 4-9 axillary lymph nodes (at least one tumor deposit larger than 2.0 mm). (from AJCC 8th Ed.)|NCI|N|
C1711122|A pathologic regional lymph node TNM finding. The definition of pN2b finding depends on the particular type of cancer that it refers to; for example, for breast cancer, pN2b finding is defined as follows: cancer with metastases in clinically detected internal mammary lymph nodes with or without microscopic confirmation; with pathologically negative axillary nodes. (from AJCC 8th Ed.)|NCI|N|
C1711123|A pathologic regional lymph node TNM finding. The definition of pN2c finding depends on the particular type of cancer that it refers to; for example, for major salivary gland cancer, pN2c finding is defined as follows: cancer with metastasis in bilateral or contralateral lymph nodes, none more than 6 cm in greatest dimension and ENE(-). (from AJCC 8th Ed.)|NCI|N|
C1711124|A pathologic regional lymph node TNM finding. The definition of pN3a finding depends on the particular type of cancer that it refers to; for example, for gastric cancer, pN3a finding is defined as follows: cancer with metastasis in seven to fifteen regional lymph nodes. (from AJCC 8th Ed.)|NCI|N|
C1711125|A pathologic regional lymph node TNM finding. The definition of pN3b finding depends on the particular type of cancer that it refers to; for example, for gastric cancer, pN3b finding is defined as follows: cancer with metastasis in sixteen or more regional lymph nodes. (from AJCC 8th Ed.)|NCI|N|
C1711126|A pathologic regional lymph node TNM finding. The definition of pN3c finding depends on the particular type of cancer that it refers to; for example, for breast cancer, pN3c finding is defined as follows: cancer with metastases in ipsilateral supraclavicular lymph nodes. (from AJCC 8th Ed.)|NCI|N|
C1711128|A pathologic primary tumor TNM finding. The definition of pT1a finding depends on the particular type of cancer that it refers to; for example, for breast cancer, pT1a finding is defined as follows: cancer with tumor size more than 0.1 cm, but not more than 0.5 cm in greatest dimension; for lung cancer, pT1a finding is defined as follows: cancer with a tumor size of 2 cm or less in greatest dimension, surrounded by lung or visceral pleura and without bronchoscopic evidence of invasion more proximal than the lobar bronchus (i.e., not in the main bronchus). The uncommon superficial tumor of any size with its invasive component limited to the bronchial wall, which may extend proximal to the main bronchus, is also classified as T1a. (from AJCC 7th Ed.)|NCI|N|
C1711129|A pathologic primary tumor TNM finding. The definition of pT1b finding depends on the particular type of cancer that it refers to; for example, for breast cancer, pT1b finding is defined as follows: cancer with tumor size more than 0.5 cm, but not more than 1.0 cm in greatest dimension; for lung cancer, pT1b finding is defined as follows: cancer with a tumor size more than 2 cm but 3 cm or less in greatest dimension, surrounded by lung or visceral pleura and without bronchoscopic evidence of invasion more proximal than the lobar bronchus (i.e., not in the main bronchus). (from AJCC 7th Ed.)|NCI|N|
C1711130|A pathologic primary tumor TNM finding. The definition of pT1c finding depends on the particular type of cancer that it refers to; for example, for breast cancer, pT1c finding is defined as follows: cancer with tumor size more than 1.0 cm, but not more than 2.0 cm in greatest dimension; for fallopian tube cancer, pT1c finding is defined as follows: cancer with tumor limited to one or both tubes with extension onto or through the tubal serosa, or with malignant cells in ascites or peritoneal washings. (from AJCC 7th Ed.)|NCI|N|
C1711131|A pathologic primary tumor TNM finding. The definition of pT2a finding depends on the particular type of cancer that it refers to; for example, for prostate cancer, pT2a finding is defined as follows: cancer limited to one-half or less of one lobe of the prostate gland; for lung cancer, pT2a finding is defined as follows: cancer with a tumor size more than 3 cm but 5 cm or less in greatest dimension. (from AJCC 7th Ed.)|NCI|N|
C1711132|A pathologic primary tumor TNM finding. The definition of pT2b finding depends on the particular type of cancer that it refers to; for example, for prostate cancer, pT2b finding is defined as follows: cancer involving more than one-half of one lobe, but not both lobes of the prostate gland; for lung cancer, pT2b finding is defined as follows: cancer with a tumor size more than 5 cm but 7 cm or less in greatest dimension. (from AJCC 7th Ed.)|NCI|N|
C1711133|A pathologic primary tumor TNM finding. The definition of pT2c finding depends on the particular type of cancer that it refers to; for example, for prostate cancer, pT2c finding is defined as follows: cancer involving both lobes of the prostate gland; for fallopian tube cancer, pT2c finding is defined as follows: cancer with pelvic extension and malignant cells in ascites or peritoneal washings. (from AJCC 7th Ed.)|NCI|N|
C1711134|A pathologic primary tumor TNM finding. The definition of pT3a finding depends on the particular type of cancer that it refers to; for example, for cervical cancer, pT3a finding is defined as follows: cancer involves lower third of vagina, without extension to pelvic wall; for kidney cancer, pT3a finding is defined as follows: cancer with tumor grossly extending into the renal vein or its segmental (muscle containing) branches or tumor invading perirenal and/or renal sinus fat but not beyond Gerota''s fascia. (from AJCC 7th Ed.)|NCI|N|
C1711135|A pathologic primary tumor TNM finding. The definition of pT3b finding depends on the particular type of cancer that it refers to; for example, for cervical cancer, pT3b finding is defined as follows:cancer extends to pelvic wall and/or causes hydronephrosis or nonfunctioning kidney; for kidney cancer, pT3b finding is defined as follows: cancer with tumor grossly extending into the vena cava below the diaphragm. (from AJCC 7th Ed.)|NCI|N|
C1711136|A pathologic primary tumor TNM finding. The definition of pT3c finding depends on the particular type of cancer that it refers to; for example, for kidney cancer, pT3c finding is defined as follows: cancer with tumor grossly extending into the vena cava above the diaphragm, or invading the wall of the vena cava; for fallopian tube cancer, pT3c finding is defined as follows: cancer with peritoneal metastasis outside the pelvis and more than 2 cm in diameter. (from AJCC 7th Ed.)|NCI|N|
C1711137|A pathologic primary tumor TNM finding. The definition of pT4a finding depends on the particular type of cancer that it refers to; for example, for breast cancer, pT4a finding is defined as follows: cancer with extension to the chest wall, not including the pectoralis muscle; for thyroid cancer, pT4a finding is defined as follows: cancer with moderately advanced local disease. Tumor of any size extending beyond the thyroid gland capsule to invade subcutaneous soft tissues, larynx, trachea, esophagus, or recurrent laryngeal nerve. (from AJCC 7th Ed.)|NCI|N|
C1711138|A pathologic primary tumor TNM finding. The definition of pT4b finding depends on the particular type of cancer that it refers to; for example, for breast cancer, pT4b finding is defined as follows: cancer with ulceration and/or ipsilateral satellite nodules and/or edema (including peau d''orange) of the skin, which do not meet the criteria for inflammatory carcinoma; for gastric cancer, pT4b finding is defined as follows: cancer with tumor invading adjacent structures. (from AJCC 7th Ed.)|NCI|N|
C1711139|A pathologic primary tumor TNM finding. The definition of pT4c finding depends on the particular type of cancer that it refers to; for example, for breast cancer, pT4c finding is defined as follows: cancer in which both T4a and T4b are present. (from AJCC 8th Ed.)|NCI|N|
C1711140|A pathologic primary tumor TNM finding. The definition of pT4d finding depends on the particular type of cancer that it refers to; for example, for breast cancer, pT4d finding is defined as follows: cancer meeting the criteria of inflammatory carcinoma. (from AJCC 8th Ed.)|NCI|N|
C1711149|A pericentric translocation involving q35 and p23 on chromosome 2.|NCI|N|
C1711158|An indication that expression of CD8 has been detected in a sample of neoplastic cells.|NCI|N|
C1711168|A precursor T-cell lymphoblastic leukemia that involves the mediastinum. It usually affects adolescent and young adult males. It is treated with aggressive chemotherapy and radiation.|NCI|N|
C1711169|An adenoma that arises from the appendix. It is characterized by prominent serration of the glands.|NCI|N|
C1711171|A cardiac rhabdomyoma characterized by the presence of neoplastic large striated muscle cells with clear cytoplasm and spider cells.|NCI|N|
C1711182|A carcinoma that arises from the small intestine. It is composed of malignant glandular cells and malignant squamous cells.|NCI|N|
C1711192|A primary adenocarcinoma of the stomach in a patient with no family history of gastric cancer or inherited high risk mutations.|NCI|N|
C1711210|A cancer finding in the TNM system that is not specifically identified as a clinical, pathologic, recurrent (retreatment), or autopsy classification using an accepted prefix in accordance with TNM classification guidelines. Though the 6th Edition of the AJCC Cancer Staging Manual indicates that unspecified TNM staging descriptors may be considered synonymous with the corresponding fully specified clinical category, such omission may lead to ambiguity in meaning, and in practice unqualified descriptors are frequently used with other intended meanings. The generic TNM concepts in the NCI Thesaurus are intended to explicitly reflect this lack of specification.|NCI|N|
C1711212|A microscopic finding indicating the presence of cells with glandular differentiation in a tumor sample.|NCI|N|
C1711221|A melanoma of the skin arising from a congenital melanocytic nevus.|NCI|N|
C1711227|A finding indicating the presence of at least two morphologic components in a germ cell tumor sample.|NCI|N|
C1711232|An aggressive variant of squamous cell carcinoma that arises from the nasopharynx. It is characterized by the presence of small malignant cells with hyperchromatic nuclei and scant amount of cytoplasm forming lobules with peripheral palisading. Comedonecrosis may be present.|NCI|N|
C1711250|A change in the nucleotide sequence of the NOTCH1 gene.|NCI|N|
C1711263|A capillary hemangioma arising from the heart.|NCI|N|
C1711268|An extra-adrenal paraganglioma arising from the cerebellum.|NCI|N|
C1711276|A morphologic variant of lung sarcomatoid carcinoma composed of a mixture of non-small cell lung carcinoma and a sarcomatous component.|NCI|N|
C1711278|A rare, low-grade exophytic adenocarcinoma with papillary growth that arises from the epithelium of the nasopharynx. If it is completely removed, the prognosis is excellent.|NCI|N|
C1711295|A non-neoplastic proliferation of vessels in reaction to a process.|NCI|N|
C1711308|A neoplasm that arises from the accessory urethral glands and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C1711312|An invasive breast carcinoma showing differentiation towards bone structures.|NCI|N|
C1711314|A clinical stage I or II non-Hodgkin lymphoma without any of the following risk factors: large mediastinal mass, extranodal spread, elevated erythrocyte sedimentation rate, involvement of at least three lymph node areas, and B symptoms.|NCI|N|
C1711316|A lesion having the shape of a dome.|NCI|N|
C1711320|An adenocarcinoma arising from the appendix, characterized by the presence of signet-ring, mucin-producing malignant cells. The signet-ring cells constitute more than fifty-percent of the malignant cells.|NCI|N|
C1711322|An atypical hyperplasia of the mesothelial cells.|NCI|N|
C1711326|A carcinoma that arises from the small intestine. It is characterized by the presence of malignant epithelial cells with vesicular nucleus, distinct nucleolus, and abundant pink cytoplasm.|NCI|N|
C1711381|A change in the structure of the RET gene.|NCI|N|
C1711386|A squamous cell carcinoma that arises from the nasal cavity and is characterized by prominent production of keratin.|NCI|N|
C1711390|An adenocarcinoma arising from the rectosigmoid area. It is more frequently seen in populations with a Western type diet and in patients with a history of chronic inflammatory bowel disease. Signs and symptoms include intestinal bleeding, anemia, and change in bowel habits. According to the degree of cellular differentiation, rectosigmoid adenocarcinomas are divided into well, moderately, and poorly differentiated. Histologic variants include mucinous adenocarcinoma, signet ring cell carcinoma, medullary carcinoma, serrated adenocarcinoma, cribriform comedo-type adenocarcinoma, and micropapillary adenocarcinoma.|NCI|N|
C1711391|A hepatocellular carcinoma that occurs during adulthood and has recurred after a period of remission.|NCI|N|
C1711397|A morphologic variant of sarcomatoid carcinoma characterized by the presence of malignant glandular or squamous cells associated with malignant giant and spindle cells.|NCI|N|
C1711435|A change in the nucleotide sequence of the WRN gene.|NCI|N|
C1717821|A finding indicating the presence of a prostatic carcinoma that has invaded the prostatic capsule and has spread to nearby tissues or distant anatomic sites.|NCI|N|
C1718038|A result that the margin is involved by invasive melanoma.|NCI|N|
C1718072|Model for End Stage Liver Disease (MELD) MELD score.|NCI|N|
C1718255|The explanation for why a test, measurement, or assessment is executed.|NCI|N|
C1718420|The presence of malignant tubular formations which are thought to represent malignant counterparts of the terminal ductal-lobular units of the breast.|NCI|N|
C1718423|A decrease in the size of a tumor or in the extent of cancer in the body.|NCI|N|
C1719382|An instance of torsion dystonia that is acquired during the lifetime of the individual.|MONDO|N|
C1719404|A rare immune-mediated inflammatory demyelinating disorder of the spinal cord with motor, sensory and autonomic involvement.|ORPHANET|N|
C1719522|A tooth whose root canal system has been filled in three dimensions and where a surplus of material extrudes beyond the foramina.|SNOMEDCT_US|N|
C1719523|A tooth whose root canal system has been inadequately obturated in any dimension, leaving large reservoirs for recontamination.|SNOMEDCT_US|N|
C1719601|A clinical finding that reveals a uterus that is either larger or smaller than expected based on last menstrual period.|NCI|N|
C1719672|Clinical syndrome defined by the presence of both infection and a systemic inflammatory response that progresses to multi-organ failure.|NCI|N|
C1719788|Episodic ataxia type 1 (EA1) is a potassium channelopathy characterized by constant myokymia and dramatic episodes of spastic contractions of the skeletal muscles of the head, arms, and legs with loss of both motor coordination and balance. During attacks individuals may experience a number of variable symptoms including vertigo, blurred vision, diplopia, nausea, headache, diaphoresis, clumsiness, stiffening of the body, dysarthric speech, and difficulty in breathing, among others. EA1 may be associated with epilepsy. Other possible associations include delayed motor development, cognitive disability, choreoathetosis, and carpal spasm. Usually, onset is in childhood or early adolescence.|GeneReviews|N|
C1719796|Refractive error in which the vertical meridian is relatively hypermetropic and the horizontal meridian is relatively myopic (or ocular astigmatism in which the refractive power of the horizontal meridian is the greatest).|HPO|N|
C1719830|The spread of tumor cells into the vitreous of the eye.|NCI|N|
C1719838|Thinning in the layers of the retina and retinal pigment epithelium around the optic nerve.|HPO|N|
C1720008|A Burkitt lymphoma occurring in HIV-positive patients.|NCI|N|
C1720037|A supranuclear gaze palsy is an inability to look in a particular direction as a result of cerebral impairment. There is a loss of the voluntary aspect of eye movements, but, as the brainstem is still intact, all the reflex conjugate eye movements are normal.|HPO|N|
C1720171|Diabetic cataracts are thought to be caused by hyperglycemia associated with disturbed glucose metabolism|MONDO|N|
C1720189|Periodic spells of incoordination and imbalance, that is, episodes of ataxia typically lasting from 10 minutes to several hours or days.|HPO|N|
C1720245|Astigmatism with more plus power on the horizontal meridian.|HPO|N|
C1720265|Grayish, polygonal pattern of opacities with intervening clear zones across the central cornea that resembles crocodile skin.|HPO|N|
C1720416|Episodic ataxia is a genetically heterogeneous neurologic condition characterized by spells of incoordination and imbalance, often associated with progressive ataxia. Episodic ataxia type 2 is the most common form of EA (Jen et al., 2007).
For a discussion of genetic heterogeneity of episodic ataxia, see EA1 (160120).|OMIM|N|
C1720485|Very small, round vesicles containing fluid and cellular debris observed on the surface of the cornea under slit-lamp examination in some types of corneal dystrophy and in wearers of extended-wear lenses.|NCI|N|
C1720728|A morphologic variant of diffuse large B-cell lymphoma occurring in HIV-positive patients.|NCI|N|
C1720732|Edema/fluid accumulating between the retinal pigment epithelium and Bruch's membrane.|HPO|N|
C1720765|Pathological processes of the female URINARY TRACT, the reproductive system (GENITALIA, FEMALE), and disorders related to PREGNANCY.|MSH|N|
C1720771|Accumulation of clear fluid in the between the layers of membrane (tunica vaginalis) surrounding the testis.|HPO|N|
C1720772|A condition with abnormally low levels of PREBETA-LIPOPROTEINS in the blood.|MSH|N|
C1720776|The repeated weak excitation of brain structures, that progressively increases sensitivity to the same stimulation. Over time, this can lower the threshold required to trigger seizures.|MSH|N|
C1720779|Clinically and biochemically, apoC-II deficiency closely simulates lipoprotein lipase deficiency, or hyperlipoproteinemia type I (238600), and is therefore referred to as hyperlipoproteinemia type IB.|OMIM|N|
C1720795|An acute infection of the prostate gland caused by bacteria, most often Escherichia coli, Proteus mirabilis, Klebsiella, and Pseudomonas aeruginosa. Signs and symptoms include fever, lower back pain, urinary frequency, and painful urination. The urinalysis reveals the presence of white cells. Risk factors include intraprostatic ductal reflux, phimosis, urinary tract infections, and unprotected anal intercourse.|NCI|N|
C1720796|Inflammation of the prostate gland that is not associated with any symptoms. It is characterized by the presence of inflammatory cells in the prostatic fluid.|NCI|N|
C1720797|A chronic infection of the prostate gland caused by bacteria. It is manifested with recurring urinary tract infections. The culture of the prostatic fluid, semen, or post-massage urine specimen reveals the presence of bacteria.|NCI|N|
C1720798|Acute skin inflammatory reaction caused by drugs, especially chemotherapeutic agents, weeks or months following radiotherapy. The inflammatory reaction is confined to the previously irradiated skin and the symptoms disappear after the removal of the pharmacologic agent.|NCI|N|
C1720821|A type of mesangiocapillary glomerulonephritis that is characterized by subepithelial immune deposit and may be a variant of type I.|MSH|N|
C1720824|The sudden loss of all heart activity due to an irregular heart rhythm.|MONDO|N|
C1720859|Familial partial lipodystrophy type 1 (FPLD1), or Kobberling-type lipodystrophy, is characterized by loss of adipose tissue confined to the extremities, with normal or increased distribution of fat on the face, neck, and trunk (Kobberling and Dunnigan, 1986).
For a general description and a discussion of genetic heterogeneity of familial partial lipodystrophy (FPLD), see 151660.|OMIM|N|
C1720860|Familial partial lipodystrophy is a metabolic disorder characterized by abnormal subcutaneous adipose tissue distribution beginning in late childhood or early adult life. Affected individuals gradually lose fat from the upper and lower extremities and the gluteal and truncal regions, resulting in a muscular appearance with prominent superficial veins. In some patients, adipose tissue accumulates on the face and neck, causing a double chin, fat neck, or cushingoid appearance. Metabolic abnormalities include insulin-resistant diabetes mellitus with acanthosis nigricans and hypertriglyceridemia; hirsutism and menstrual abnormalities occur infrequently. Familial partial lipodystrophy may also be referred to as lipoatrophic diabetes mellitus, but the essential feature is loss of subcutaneous fat (review by Garg, 2004).
The disorder may be misdiagnosed as Cushing disease (see 219080) (Kobberling and Dunnigan, 1986; Garg, 2004).
Genetic Heterogeneity of Familial Partial Lipodystrophy
Familial partial lipodystrophy is a clinically and genetically heterogeneous disorder. Types 1 and 2 were originally described as clinical subtypes: type 1 (FPLD1; 608600), characterized by loss of subcutaneous fat confined to the limbs (Kobberling et al., 1975), and FPLD2, characterized by loss of subcutaneous fat from the limbs and trunk (Dunnigan et al., 1974; Kobberling and Dunnigan, 1986). No genetic basis for FPLD1 has yet been delineated. FPLD3 (604367) is caused by mutation in the PPARG gene (601487) on chromosome 3p25; FPLD4 (613877) is caused by mutation in the PLIN1 gene (170290) on chromosome 15q26; FPLD5 (615238) is caused by mutation in the CIDEC gene (612120) on chromosome 3p25; FPLD6 (615980) is caused by mutation in the LIPE gene (151750) on chromosome 19q13; FPLD7 (606721) is caused by mutation in the CAV1 gene (601047) on chromosome 7q31; FPLD8 (620679), caused by mutation in the ADRA2A gene (104210) on chromosome 10q25; and FPLD9 (620683), caused by mutation in the PLAAT3 gene (613867) on chromosome 11q12.|OMIM|N|
C1720861|A rare familial partial lipodystrophy with characteristics of adult onset of distal lipoatrophy with gluteofemoral fat loss, as well as increased fat accumulation in the face and trunk and visceral adiposity. Additional manifestations include diabetes mellitus, atherogenic dyslipidemia, eyelid xanthelasma, arterial hypertension, cardiovascular disease, hepatic steatosis, acanthosis nigricans on axilla and neck, hirsutism, and muscular hypertrophy of the lower limbs. Caused by heterozygous mutation in the PPARG gene on chromosome 3p25.|SNOMEDCT_US|N|
C1720862|Berardinelli-Seip congenital lipodystrophy (BSCL) is usually diagnosed at birth or soon thereafter. Because of the absence of functional adipocytes, lipid is stored in other tissues, including muscle and liver. Affected individuals develop insulin resistance and approximately 25%-35% develop diabetes mellitus between ages 15 and 20 years. Hepatomegaly secondary to hepatic steatosis and skeletal muscle hypertrophy occur in all affected individuals. Hypertrophic cardiomyopathy is reported in 20%-25% of affected individuals and is a significant cause of morbidity from cardiac failure and early mortality.|GeneReviews|N|
C1720863|Berardinelli-Seip congenital lipodystrophy (BSCL) is usually diagnosed at birth or soon thereafter. Because of the absence of functional adipocytes, lipid is stored in other tissues, including muscle and liver. Affected individuals develop insulin resistance and approximately 25%-35% develop diabetes mellitus between ages 15 and 20 years. Hepatomegaly secondary to hepatic steatosis and skeletal muscle hypertrophy occur in all affected individuals. Hypertrophic cardiomyopathy is reported in 20%-25% of affected individuals and is a significant cause of morbidity from cardiac failure and early mortality.|GeneReviews|N|
C1720887|Pathological processes of the female URINARY TRACT and the reproductive system (GENITALIA, FEMALE).|MSH|N|
C1720894|Pathological processes of the male URINARY TRACT and the reproductive system (GENITALIA, MALE).|MSH|N|
C1720950|Interacting DNA-encoded regulatory subsystems in the GENOME that coordinate input from activator and repressor TRANSCRIPTION FACTORS during development, cell differentiation, or in response to environmental cues. The networks function to ultimately specify expression of particular sets of GENES for specific conditions, times, or locations.|MSH|N|
C1720956|Hyper-IgM syndrome type 2 (HIGM2) is a rare immunodeficiency characterized by normal or elevated serum IgM levels with absence of IgG, IgA, and IgE, resulting in a profound susceptibility to bacterial infections.
For a discussion of genetic heterogeneity of immunodeficiency with hyper-IgM, see HIGM1 (308230).|OMIM|N|
C1720957|Type 3 immunodeficiency with hyper-IgM (HIGM3), first described in humans by Ferrari et al. (2001), is characterized by hypogammaglobulinemia with normal or elevated levels of IgM.
For a general phenotypic description and a discussion of genetic heterogeneity of immunodeficiency with hyper-IgM, see HIGM1 (308230).|OMIM|N|
C1720958|Hyper-IgM syndrome is a condition characterized by normal or increased serum IgM concentrations associated with low or absent serum IgG, IgA, and IgE concentrations, indicating a defect in the class-switch recombination (CSR) process.
For a discussion of genetic heterogeneity of immunodeficiency with hyper-IgM, see HIGM1 (308230).|OMIM|N|
C1720965|An autosomal dominant form of ectodermal dysplasia which is due to mutations in the gene for the EDAR RECEPTOR.|MSH|N|
C1720983|A variety of neuromuscular conditions resulting from MUTATIONS in ION CHANNELS manifesting as episodes of EPILEPSY; HEADACHE DISORDERS; and DYSKINESIAS.|MSH|N|
C1720999|A highly contagious parvovirus infection in mink, caused by MINK ENTERITIS VIRUS or the closely related FELINE PANLEUKOPENIA VIRUS or CANINE PARVOVIRUS. Transmission usually occurs by the fecal/oral route.|MSH|N|
C1721005|White sponge nevus (WSN) is a rare and autosomal dominant genetic disease in which the oral mucosa is white or greyish, thickened, folded, and spongy. The onset is early in life, and both sexes are affected equally. Other common sites include the tongue, floor of the mouth, and alveolar mucosa.|ORDO|N|
C1721006|Epidermolytic palmoplantar keratoderma-1 (EPPK1) is an autosomal dominant skin disorder characterized clinically by diffuse, yellow thickening of the skin of the palms and soles. There is no extension of the keratoderma to dorsal surfaces of hands and feet, inner wrists, and Achilles tendon area (transgrediens). Knuckle pads may be present in some individuals (summary by Kuster et al., 2002, Chiu et al., 2007).
Genetic Heterogeneity of Epidermolytic Palmoplantar Keratoderma
Epidermolytic palmoplantar keratoderma-2 (EPPK2; 620411) is caused by mutation in the keratin-1 gene (KRT1; 139350) on chromosome 12q13.
Classification of Palmoplantar Keratoderma
PPK has been classified into diffuse, focal, and punctate forms according to the pattern of hyperkeratosis on the palms and soles (Lucker et al., 1994). Diffuse PPK develops at birth or shortly thereafter and involves the entire palm and sole with a sharp cutoff at an erythematous border; there are no lesions outside the volar skin, and, in particular, no follicular or oral lesions. In contrast, focal PPK is a late-onset form in which focal hyperkeratotic lesions develop in response to mechanical trauma; an important distinguishing feature is the presence of lesions at other body sites, e.g., oral and follicular hyperkeratosis (Stevens et al., 1996). Palmoplantar keratodermas can be further subdivided histologically into epidermolytic and nonepidermolytic PPK (Risk et al., 1994).
Genetic Heterogeneity of Palmoplantar Keratoderma
Nonepidermolytic palmoplantar keratoderma (NEPPK; 600962) is caused by mutation in the KRT1 gene. A focal form of NEPPK (FNEPPK1; 613000) is caused by mutation in the KRT16 gene (148067). Another focal form, FNEPPK2 (616400), is caused by mutation in the TRPV3 gene (607066); mutation in TRPV3 can also cause Olmsted syndrome (OLMS; 614594), a severe mutilating form of PPK. The diffuse Bothnian form of NEPPK (PPKB; 600231) is caused by mutation in the AQP5 gene (600442). The Nagashima type of nonepidermolytic diffuse PPK (PPKN; 615598) is caused by mutation in the SERPINB7 gene (603357).
A generalized form of epidermolytic hyperkeratosis (EHK; 113800), also designated bullous congenital ichthyosiform erythroderma (BCIE), is caused by mutation in the keratin genes KRT1 and KRT10 (148080).
For a discussion of punctate PPK, see 148600; for a discussion of striate PPK, see 148700.|OMIM|N|
C1721007|Pachyonychia congenita (PC) is characterized by hypertrophic nail dystrophy, painful palmoplantar keratoderma and blistering, oral leukokeratosis, pilosebaceous cysts (including steatocystoma and vellus hair cysts), palmoplantar hyperhydrosis, and follicular keratoses on the trunk and extremities.|GeneReviews|N|
C1721016|A worldwide emerging disease of weaned piglets first recognized in swine herds in western Canada in 1997. This syndrome is characterized by progressive weight loss, rapid (tachypnea) and difficult (dyspnea) breathing, and yellowing of skin. PMWS is caused by PORCINE CIRCOVIRUS infection, specifically type 2 or PCV-2.|MSH|N|
C1721053|The presence of the following interrelated signs observed in active women and girls: low energy availability with or without disordered eating; menstrual dysfunction; low bone mineral density.|SNOMEDCT_US|N|
C1721093|The random catabolism of DNA accompanying the irreversible damage to tissue which leads to the pathological death of one or more cells.|MSH|N|
C1721094|A reaction that severs one of the covalent sugar-phosphate linkages between NUCLEOTIDES that compose the sugar phosphate backbone of DNA. It is catalyzed enzymatically, chemically or by radiation. Cleavage may be exonucleolytic - removing the end nucleotide, or endonucleolytic - splitting the strand in two.|MSH|N|
C1721099|Complex sets of enzymatic reactions connected to each other via their product and substrate metabolites.|MSH|N|
C1721101|Sets of enzymatic reactions occurring in organisms and that form biochemicals by making new covalent bonds.|MSH|N|
C1721104|Interruptions in the sugar-phosphate backbone of DNA.|MSH|N|
C1735324|Delayed acquisition of age appropriate motor milestones that produce small and precise movements.|NCI|N|
C1735355|Respiratory bronchiolitis - interstitial lung disease is a mild inflammatory pulmonary disorder developed by cigarette smokers and characterized by shortness of breath and cough, pulmonary function abnormalities of mixed restrictive and obstructive lung disease and high resolution CT scanning showing centrilobular micronodules, ground glass opacities and peribronchiolar thickening.|ORDO|N|
C1735356|A variant of central retinal vein occlusions that involves the superior or inferior half of the retina.|HPO|N|
C1735591|VACTERL association is a disorder that affects many body systems. VACTERL stands for vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities. People diagnosed with VACTERL association typically have at least three of these characteristic features. Affected individuals may have additional abnormalities that are not among the characteristic features of VACTERL association.\n\nDefects in the bones of the spine (vertebrae) are present in 60 to 80 percent of people with VACTERL association. These defects may include misshapen vertebrae, fused vertebrae, and missing or extra vertebrae. In some people, spinal problems require surgery or cause health problems, such as back pain of varying severity, throughout life. Sixty to 90 percent of individuals with VACTERL association have narrowing or blockage of the anus (anal atresia). Anal atresia may be accompanied by abnormalities of the genitalia and urinary tract (genitourinary anomalies). Heart (cardiac) defects occur in 40 to 80 percent of individuals with VACTERL association. Cardiac defects can range in severity from a life-threatening problem to a subtle defect that does not cause health problems. Fifty to 80 percent of people with VACTERL association have a tracheo-esophageal fistula, which is an abnormal connection (fistula) between the esophagus and the windpipe (trachea). Tracheo-esophageal fistula can cause problems with breathing and feeding early in life and typically requires surgical correction in infancy. Kidney (renal) anomalies occur in 50 to 80 percent of individuals with VACTERL association. Affected individuals may be missing one or both kidneys or have abnormally developed or misshapen kidneys, which can affect kidney function. Limb abnormalities are seen in 40 to 50 percent of people with VACTERL association. These abnormalities most commonly include poorly developed or missing thumbs or underdeveloped forearms and hands.\n\nSome of the features of VACTERL association can be subtle and are not identified until late in childhood or adulthood, making diagnosis of this condition difficult.|MedlinePlus Genetics|N|
C1735881|Excessive growth of hands and feet (predominantly due to soft tissue swelling). Typical manifestations include shoe size increase, foot enlargment, glove tightness, and hand enlargement.|HPO|N|
C1735886|Left main coronary artery begins (branches off from) the pulmonary artery rather than as normal from the root of the aorta, above the left cusp of the aortic valve.|HPO|N|
C1735901|Repeated episodes of the formation of a blot clot in a deep vein.|HPO|N|
C1735903|Longstanding abnormal acid accumulation or depletion of base.|HPO|N|
C1736154|A demyelinating polyneuropathy characterized clinically by sensory ataxia, tremor, paresthesia, and impaired gait.|ORDO|N|
C1737260|Increased susceptibility to mycobacterial avium complex infections, as manifested by recurrent episodes of mycobacterial infection.|HPO|N|
C1739094|Foodborne botulism is the most common form of botulism (see this term), a rare acquired neuromuscular junction disease with descending flaccid paralysis due to botulinum neurotoxins (BoNTs). It is caused by consumption of contaminated food containing BoNTs.|ORDO|N|
C1739100|Congenital urachal anomaly (CUA) describes a group of urachal remnants, found more frequently in males than females, that result from incomplete closure of the urachus (an embryological remnant of the allantois) during prenatal development, and that are usually asymptomatic (and found as an incidental finding on a radiological study) but can also present with umbilical discharge (in patent urachus or urachal sinus), infraumblical mass and pain, or with complications such as obstruction and infection. CUAs include patent urachus, urachal sinus, urachal cyst and urachal diverticulum (see these terms).|ORDO|N|
C1739105|Abnormally increased variability in the size of platelets.|HPO|N|
C1739108|A type 1 diabetes mellitus that is characterized by a less intensive autoimmune process, highly variable ß-cell destruction, different degrees of insulin resistance and heterogeneous titre and pattern of islet autoantibody, sharing features with both type 1 and type 2 diabetes mellitus.|MONDO|N|
C1739148|An acute inflammation of a synovial membrane. It is associated with swelling and pain in the affected area.|NCI|N|
C1739384|A form of acromelic dysplasia with the distinctive radiological sign of angel-shaped middle phalanges, a typical metacarpophalangeal pattern profile (mainly affecting first metacarpals and middle phalanges of second, third and fifth digits which all appear short), epiphyseal changes in the hips and in some, abnormal dentition and delayed bone age. A rare disease with less than 20 cases reported in the literature, however, it is likely under diagnosed. Caused by mutations in the growth differentiation factor 5 (GDF5) gene, located on chromosome 20q11.2, encoding CDMP1 (cartilage derived morphogenetic protein). CDMP1 belongs to the TGF beta super family and plays a role in bone growth and joint morphogenesis. Transmitted as an autosomal dominant condition.|SNOMEDCT_US|N|
C1739389|Remaining collapsed and obliterated urachal tissue between the bladder dome and umbilicus.|NCI|N|
C1739395|Transient left ventricular apical ballooning syndrome or takotsubo cardiomyopathy is characterized by transient regional systolic dysfunction involving the left ventricular apex and/or mid-ventricle in the absence of obstructive coronary disease on coronary angiography. Patients present with an abrupt onset of angina-like chest pain, and have diffuse T-wave inversion, sometimes preceded by ST-segment elevation, and mild cardiac enzyme elevation.|HPO|N|
C1740754|A chronic asthma that is characterized by severity with symptoms two or fewer days per week, nighttime awakenings two or fewer times per month, use of short-acting beta agonist for symptom control two or fewer days per week and no interference with normal activity.|MONDO|N|
C1740801|An exaggerated startle reaction in response to a sudden unexpected visual or acoustic stimulus, or a quick movement near the face.|HPO|N|
C1740819|Height greater than two standard deviations below the mean for the age and sex of the reference population.|NCI|N|
C1740834|An Epstein-Barr virus infection that has recurred after a period of remission.|NCI|N|
C1744559|The focal dermal dysplasias (FFDDs) are a group of related developmental defects characterized by bitemporal or preauricular skin lesions resembling aplasia cutis congenita. FFFD3 is an autosomal recessive disorder characterized by bitemporal skin lesions with variable facial findings, including thin and puckered periorbital skin, distichiasis and/or absent eyelashes, upslanting palpebral fissures, a flat nasal bridge with a broad nasal tip, large lips, and redundant facial skin (summary by Slavotinek et al., 2013).
FFDD2 (614973) is characterized by the same facial features as FFDD3, but the inheritance is autosomal dominant.
For a classification and a discussion of genetic heterogeneity of FFDD, see FFDD1 (136500).|OMIM|N|
C1744706|A propensity to an adverse reaction which is not an allergy or nonallergic hypersensitivity FHIR Release 3 (STU).|SNOMEDCT_US|N|
C1744708|Malignant epithelial neoplasm arising from the tracheal mucosa.|NCI|N|
C1761609|Inflammation of the lungs due to the inhalation of solid or liquid material.|NCI|N|
C1761613|Dilatation of the blood vessels of the conjunctiva leading to a red appearance of the sclera.|HPO|N|
C1768507|Yellowish discoloration of the nails.|HPO|N|
C1785148|The TP63-related disorders comprise six overlapping phenotypes: Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome (which includes Rapp-Hodgkin syndrome). Acro-dermo-ungual-lacrimal-tooth (ADULT) syndrome. Ectrodactyly, ectodermal dysplasia, cleft lip/palate syndrome 3 (EEC3). Limb-mammary syndrome. Split-hand/foot malformation type 4 (SHFM4). Isolated cleft lip/cleft palate (orofacial cleft 8). Individuals typically have varying combinations of ectodermal dysplasia (hypohidrosis, nail dysplasia, sparse hair, tooth abnormalities), cleft lip/palate, split-hand/foot malformation/syndactyly, lacrimal duct obstruction, hypopigmentation, hypoplastic breasts and/or nipples, and hypospadias. Findings associated with a single phenotype include ankyloblepharon filiforme adnatum (tissue strands that completely or partially fuse the upper and lower eyelids), skin erosions especially on the scalp associated with areas of scarring, and alopecia, trismus, and excessive freckling.|GeneReviews|N|
C1800706|Idiopathic pulmonary fibrosis is a chronic, progressive lung disease. This condition causes scar tissue (fibrosis) to build up in the lungs, which makes the lungs unable to transport oxygen into the bloodstream effectively. The disease usually affects people between the ages of 50 and 70. Idiopathic pulmonary fibrosis belongs to a group of conditions called interstitial lung diseases (also known as ILD), which describes lung diseases that involve inflammation or scarring in the lung.\n\nThe most common signs and symptoms of idiopathic pulmonary fibrosis are shortness of breath and a persistent dry, hacking cough. Many affected individuals also experience a loss of appetite and gradual weight loss. Some people with idiopathic pulmonary fibrosis develop widened and rounded tips of the fingers and toes (clubbing) resulting from a shortage of oxygen. These features are relatively nonspecific; not everyone with these health problems has idiopathic pulmonary fibrosis. Other respiratory diseases, some of which are less serious, can cause similar signs and symptoms.\n\nIn people with idiopathic pulmonary fibrosis, scarring of the lungs increases over time until the lungs can no longer provide enough oxygen to the body's organs and tissues. Some people with idiopathic pulmonary fibrosis develop other serious lung conditions, including lung cancer, blood clots in the lungs (pulmonary emboli), pneumonia, or high blood pressure in the blood vessels that supply the lungs (pulmonary hypertension). Most affected individuals survive 3 to 5 years after their diagnosis. However, the course of the disease is highly variable; some affected people become seriously ill within a few months, while others may live with the disease for a decade or longer.\n\nIn most cases, idiopathic pulmonary fibrosis occurs in only one person in a family. These cases are described as sporadic. However, a small percentage of people with this disease have at least one other affected family member. When idiopathic pulmonary fibrosis occurs in multiple members of the same family, it is known as familial pulmonary fibrosis.|MedlinePlus Genetics|N|
C1802395|Cornelia de Lange syndrome (CdLS) encompasses a spectrum of findings from mild to severe. Severe (classic) CdLS is characterized by distinctive facial features, growth restriction (prenatal onset; <5th centile throughout life), hypertrichosis, and upper-limb reduction defects that range from subtle phalangeal abnormalities to oligodactyly (missing digits). Craniofacial features include synophrys, highly arched and/or thick eyebrows, long eyelashes, short nasal bridge with anteverted nares, small widely spaced teeth, and microcephaly. Individuals with a milder phenotype have less severe growth, cognitive, and limb involvement, but often have facial features consistent with CdLS. Across the CdLS spectrum IQ ranges from below 30 to 102 (mean: 53). Many individuals demonstrate autistic and self-destructive tendencies. Other frequent findings include cardiac septal defects, gastrointestinal dysfunction, hearing loss, myopia, and cryptorchidism or hypoplastic genitalia.|GeneReviews|N|
C1802398|Chromosome 5q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 5. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 5q duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Chromosome 5q duplication can be de novo or inherited from a parent with a chromosomal rearrangement such as a balanced translocation. Treatment is based on the signs and symptoms present in each person.|MONDO|N|
C1802405|Summitt syndrome is an extremely rare disorder originally described in two brothers and with characteristics of mild to severe craniosynostosis and syndactyly, obesity and normal intelligence. Acrocephaly, brachydactyly, clinodactyly, mild syndactyly of the hands and feet, genu valgum and marked obesity were later described in another patient. There have been no further descriptions in the literature since 1979.|SNOMEDCT_US|N|
C1806780|Increased concentration of protein in the cerebrospinal fluid.|HPO|N|
C1809471|Familial hypocalciuric hypercalcemia (FHH) is a generally asymptomatic genetic disorder of phosphocalcic metabolism characterized by lifelong moderate hypercalcemia along with normo- or hypocalciuria and elevated plasma parathyroid hormone (PTH) concentration.|ORDO|N|
C1817393|The series of molecular signals initiated by a ligand binding to a toll-like receptor of a target cell. Toll-like receptors directly bind pattern motifs from a variety of microbial sources to initiate an innate immune response. [GO_REF:0000022, GOC:add, ISBN:0781735149, PMID:12467241, PMID:12524386, PMID:12855817, PMID:15585605, PMID:15728447]|GO|N|
C1819989|The chemical reactions and pathways involving linoleic acid, an unsaturated omega-6 fatty acid that has the molecular formula C18H32O2. [Wikipedia:Linoleic_Acid]|GO|N|
C1820377|A hypersensitivity reaction mediated by antibodies formed against cell surface antigens.|NCI|N|
C1820737|Disordered thermoregulation characterized by an impaired ability to maintain a balance between heat production and heat loss, with resulting instability of body temperature.|HPO|N|
C1820738|Inability to achieve a full feeding volume.|NCI|N|
C1821271|The amount and/or type of parenteral nutrition provided intravenously.|SNOMEDCT_US|N|
C1821293|Feelings of being unimportant or useless.|NCI|N|
C1821461|A relationship bound by mutual interests or loyalties.|NCI|N|
C1824925|Autosomal recessive deafness-70 (DFNB70) is a neurologic disorder with a variable disease course. All individuals present with isolated congenital sensorineural hearing loss in infancy that appears to be stable for the first decades of life. Affected members of 1 family with longer follow-up developed a neurodegenerative disease in their forties, including ataxia with loss of ambulation, optic atrophy, dystonia or spasticity, and cognitive decline with psychiatric features. The later onset of additional symptoms in this family suggests that others with DFNB70 may be at risk of developing multisystem disease in mid-to-late adulthood. These reports indicate that there is a phenotypic spectrum of PNPT1-related disease manifestations (Von Ameln et al., 2012; Eaton et al., 2018).|OMIM|N|
C1827066|A pattern of ease, relief, and transcendence in physical, psychospiritual, environmental, and/or social dimensions, which can be strengthened.|NANDA-I|N|
C1827129|An allergic reaction triggered by being exposed to wasp venom following a wasp sting.|NCI|N|
C1827184|A unilateral form of atrophy of the kidney.|HPO|N|
C1827192|Fungal infection in the PARANASAL SINUSES characterized by common allergy respiratory symptoms, recurrent NASAL POLYPS and/or ASTHMA with buildup of allergic MUCIN.|MSH|N|
C1827223|Yellow-white intraretinal deposits in the macula typically associated with damaged outer blood-retina barrier and exudation of serous fluid and lipids from the retinal microvasculature.|HPO|N|
C1827293|A carcinoma that arises from the bladder mucosa and invades the bladder wall.|NCI|N|
C1827299|Only part of the septum pellucidum (a thin, triangular, vertical membrane separating the lateral ventricles of the brain) is present. This feature can be appreciated on magnetic resonance tomography or computed tomography of the brain.|HPO|N|
C1827301|Extensively drug resistant TB are strains of TB that are resistant to at least rifampicin and isoniazid, and also resistant to a fluoroquinolone and to at least one of the three injectable TB drugs, capreomycin, kanamycin and amikacin.|SNOMEDCT_US|N|
C1827419|A rare lipomatous, dysraphic malformation characterized by attachment to the dorsal surface of the spinal cord but not extending to the conus. It can be associated with others features such as a stalk and vertebral bone abnormalities.|ORPHANET|N|
C1827425|Susceptible to reversible disturbances of consciousness, attention, cognition and perception that develop over a short period of time, which may compromise health.|NANDA-I|N|
C1827431|A sarcoma that arises from the head and neck region.|NCI|N|
C1827434|Stage I includes: pT1-4, N0, M0, SX. pT1: Tumor limited to the testis and epididymis without vascular/lymphatic invasion; tumor may invade into the tunica albuginea but not the tunica vaginalis. pT2: Tumor limited to the testis and epididymis with vascular/lymphatic invasion, or tumor extending through the tunica albuginea with involvement of the tunica vaginalis. pT3: Tumor invades the spermatic cord with or without vascular/lymphatic invasion. pT4: Tumor invades the scrotum with or without vascular/lymphatic invasion. N0: No regional lymph node metastasis. M0: No distant metastasis. SX: Marker studies not available or not performed. (AJCC 6th and 7th eds.)|NCI|N|
C1827467|A pattern of performing activities for oneself to meet health-related goals, which can be strengthened.|NANDA-I|N|
C1827521|A pattern of participating knowingly in change for well-being, which can be strengthened.|NANDA-I|N|
C1827524|A larger than usual distance between the left and right nipple.|HPO|N|
C1827532|Secretion of pus-like (purulent) material from the eye, which may caused the eyelids to be matted together.|HPO|N|
C1827547|Recurring actions that are often non-purposeful.|NCI|N|
C1827667|Excessive amounts and types of demands that require action.|NANDA-I|N|
C1827712|A pattern of expectations and desires for mobilizing energy on one''s own behalf, which can be strengthened.|NANDA-I|N|
C1827755|An acyclic state that resembles PREGNANCY in that there is no ovarian cycle, ESTROUS CYCLE, or MENSTRUAL CYCLE. Unlike pregnancy, there is no EMBRYO IMPLANTATION. Pseudopregnancy can be experimentally induced to form DECIDUOMA in the UTERUS.|MSH|N|
C1827970|A neurofibroma (benign peripheral nerve sheath tumor) localized in the subcutis (subcutaneous region).|HPO|N|
C1828015|A primary or metastatic malignant neoplasm that affects the eyelid.|NCI|N|
C1828017|Episodic hyperventilation.|HPO|N|
C1828208|Potential for unstable blood glucose levels providing a susceptibility to comprised health status.|PNDS|N|
C1828210|Progressive maculopathy characterized by concentric regions of hyper- and hypo-pigmentation.|HPO|N|
C1828221|A group of rare skeletal muscle ion-channel disorders caused by genetic mutations in the sodium and chloride channel genes. It is characterized by altered membrane excitability resulting in skeletal muscle stiffness. This group of myotonias is distinct from myotonic dystrophy because of the absence of systemic features or progressive weakness.|NCI|N|
C1828224|A pattern of choosing a course of action for meeting short- and long-term health-related goals, which can be strengthened.|NANDA-I|N|
C1828283|An allergic reaction triggered by being exposed to bee venom following a bee sting.|NCI|N|
C1828336|A benign bone-forming neoplasm arising from the skull.|NCI|N|
C1829460|Pressing forward of the tongue in the mouth, a retained motoric habit from infantile swallowing patterns|HPO|N|
C1829703|Carnitine palmitoyltransferase 1A (CPT1A) deficiency is a disorder of long-chain fatty acid oxidation. Clinical manifestations usually occur in an individual with a concurrent febrile or gastrointestinal illness when energy demands are increased; onset of symptoms is usually rapid. The recognized phenotypes are: acute fatty liver of pregnancy, in which the fetus has biallelic pathogenic variants in CPT1A that causes CPT1A deficiency; and hepatic encephalopathy, in which individuals (typically children) present with hypoketotic hypoglycemia and sudden onset of liver failure. Individuals with hepatic encephalopathy typically present with hypoglycemia, absent or low levels of ketones, and elevated serum concentrations of liver transaminases, ammonia, and total carnitine. Between episodes of hepatic encephalopathy, individuals appear developmentally and cognitively normal unless previous metabolic decompensation has resulted in neurologic damage.|GeneReviews|N|
C1830710|The act of bending one''s back forward from the waist on down.|NCI|N|
C1830750|High temperature weather exceeding the average and of several days'' duration. Extreme heat is a dangerous situation that can bring on health emergencies in susceptible people.|MSH|N|
C1831566|A descriptive account of an individual''s past medical procedures.|NCI|N|
C1831619|A rare, endocrine active tumor that causes severe renal phosphate wasting, which in turn can lead to critical osteomalacia. Phosphaturic mesenchymal tumors (PMTs) are typically small and mostly benign tumors producing fibroblast growth factor 23 (FGF-23). FGF-23 lowers the expression of sodium/phosphate cotransporters, which are the primary transport proteins responsible for phosphate reabsorption in the kidneys. The paraneoplastic overproduction of FGF-23 lowers reabsorption of phosphate and causes severe paraneoplastic renal phosphate wasting and hypophosphatemia. FGF-23 also affects vitamin D levels by lowering 25-hydroxyvitamin D 1-alpha-hydroxylase in the proximal renal tubules and by increasing the expression of vitamin D 24-hydroxylase, a mitochondrial enzyme responsible for inactivating vitamin D metabolites.|HPO|N|
C1831740|Side effects of cancer treatment received during adulthood occurring a long time after the treatment was completed.|NCI|N|
C1831741|Performance status defined as poor according to the ECOG performance score or Karnofsky performance score.|NCI|N|
C1831917|Any skin disorder occurring as a consequence of injury to the skin tissue.|NCI|N|
C1832033|A subependymal giant cell astrocytoma occurring in adults.|NCI|N|
C1832034|Subependymal giant cell astrocytoma that occurs during childhood.|NCI|N|
C1832055|Any disorder of the liver occurring as a consequence of injury to the liver parenchyma.|NCI|N|
C1832099|Wilms tumor is a form of kidney cancer that primarily develops in children. Nearly all cases of Wilms tumor are diagnosed before the age of 10, with two-thirds being found before age 5.\n\nWith proper treatment, children with Wilms tumor have a 90 percent survival rate. However, the risk that the cancer will come back (recur) is between 15 and 50 percent, depending on traits of the original tumor. Tumors usually recur in the first 2 years following treatment and develop in the kidneys or other tissues, such as the lungs. Individuals who have had Wilms tumor may experience related health problems or late effects of their treatment in adulthood, such as decreased kidney function, heart disease, and development of additional cancers.\n\nWilms tumor is often first noticed because of abdominal swelling or a mass in the kidney that can be felt upon physical examination. Some affected children have abdominal pain, fever, a low number of red blood cells (anemia), blood in the urine (hematuria), or high blood pressure (hypertension). Additional signs of Wilms tumor can include loss of appetite, weight loss, nausea, vomiting, and tiredness (lethargy).\n\nWilms tumor can develop in one or both kidneys. About 5 to 10 percent of affected individuals develop multiple tumors in one or both kidneys. Wilms tumor may spread from the kidneys to other parts of the body (metastasize). In rare cases, Wilms tumor does not involve the kidneys and occurs instead in the genital tract, bladder, abdomen, chest, or lower back. It is unclear how Wilms tumor develops in these tissues.|MedlinePlus Genetics|N|
C1832111|This syndrome is characterized by Kniest dysplasia, spine abnormalities and severe dwarfism. Glaucoma has also been reported. The syndrome has been described in two unrelated children.|MONDO|N|
C1832112|A rare primary bone dysplasia with characteristics of small, flat epiphyses (especially the capital femoral epiphyses), rhizomelic shortening of limbs, cleft of secondary palate, micrognathia, mild joint contractures and facial dysmorphism (including mildly upward-slanting palpebral fissures, hypertelorism, broad nasal tip). Additionally reported features include scoliosis, genu valgum, mild pectus excavatum, platyspondyly, dislocated radial heads, brachydactyly, hypoplastic fibulae and talipes equinovarus.|SNOMEDCT_US|N|
C1832117|Underdevelopment of the humerus.|HPO|N|
C1832119|Underdevelopment of the fibula.|HPO|N|
C1832127|Facial contours, as viewed from the front, show a broad upper face/cranium and lower face/mandible, creating a square appearance.|HPO|N|
C1832130|An abnormality of the appearance of the face caused by constant contraction of the lips leading to a puckered or pursed appearance.|HPO|N|
C1832146|Reduction in density of metaphyseal bony tissue.|HPO|N|
C1832160|An abnormality of temperature homeostasis.|HPO|N|
C1832162|Hypotrichosis with juvenile macular degeneration (HJMD) is a very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness.|ORDO|N|
C1832167|Traboulsi syndrome is characterized by dislocated crystalline lenses and anterior segment abnormalities in association with a distinctive facies involving flat cheeks and a beaked nose. Some affected individuals develop highly unusual nontraumatic conjunctival cysts (filtering blebs), presumably caused by abnormal thinning of the sclera (Patel et al., 2014).|OMIM|N|
C1832174|Doyne honeycomb retinal dystrophy (DHRD), also known as malattia leventinese (MLVT) and autosomal dominant radial drusen, is a progressive disorder characterized by the accumulation of macular and peripapillary yellow-white deposits, termed 'drusen,' beneath the retinal pigment epithelium in the Bruch membrane. With age, drusen increase in size and number, often forming a honeycomb-like pattern. Massive drusen, geographic retinal atrophy, and macular hyperpigmentation eventually cause visual symptoms in the fifth or sixth decades of life, including decreased visual acuity, metamorphopsia, photophobia, and paracentral scotoma. Complications such as secondary choroidal neovascularization and hemorrhage can result in rapid progression (summary by Sheyanth et al., 2021).
Hulleman et al. (2011) noted that both DHRD and MLVT present with clinical and pathologic symptoms similar to age-related macular degeneration (see ARMD1, 603075), including soft drusen accumulation, loss of basolateral ruffling of the RPE, RPE vacuolization, and atrophy, with eventual neovascularization in an accelerated time frame, usually in the fourth decade of life.|OMIM|N|
C1832175|Mutations in the CRYBB2 gene have been found to cause several types of cataract, which have been described as congenital cerulean, 'blue dot,' Coppock-like, sutural with punctate and cerulean opacities, pulverulent embryonal, pulverulent with cortical opacities, dense posterior star-shaped subcapsular with pulverulent opacities in the cortical and embryonal regions, and dense embryonal.
Before it was known that mutations in the CRYBB2 gene cause several types of cataract, the preferred title of this entry was 'Cataract, Congenital, Cerulean Type 2,' with the symbol CCA2.|OMIM|N|
C1832187|Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the TECTA gene.|MONDO|N|
C1832200|Zellweger spectrum disorder (ZSD) is a phenotypic continuum ranging from severe to mild. While individual phenotypes (e.g., Zellweger syndrome [ZS], neonatal adrenoleukodystrophy [NALD], and infantile Refsum disease [IRD]) were described in the past before the biochemical and molecular bases of this spectrum were fully determined, the term "ZSD" is now used to refer to all individuals with a defect in one of the ZSD-PEX genes regardless of phenotype. Individuals with ZSD usually come to clinical attention in the newborn period or later in childhood. Affected newborns are hypotonic and feed poorly. They have distinctive facies, congenital malformations (neuronal migration defects associated with neonatal-onset seizures, renal cysts, and bony stippling [chondrodysplasia punctata] of the patella[e] and the long bones), and liver disease that can be severe. Infants with severe ZSD are significantly impaired and typically die during the first year of life, usually having made no developmental progress. Individuals with intermediate/milder ZSD do not have congenital malformations, but rather progressive peroxisome dysfunction variably manifest as sensory loss (secondary to retinal dystrophy and sensorineural hearing loss), neurologic involvement (ataxia, polyneuropathy, and leukodystrophy), liver dysfunction, adrenal insufficiency, and renal oxalate stones. While hypotonia and developmental delays are typical, intellect can be normal. Some have osteopenia; almost all have ameleogenesis imperfecta in the secondary teeth.|GeneReviews|N|
C1832215|Homozygous loss-of-function mutations in the HOXA1 gene result in disorders with variable phenotypic expressivity that span a spectrum. Two related, but somewhat distinctive, phenotypes have been described in different populations: the Athabaskan brainstem dysgenesis syndrome (ABDS) in Native Americans, and Bosley-Salih-Alorainy syndrome (BSAS) in individuals from the Middle East, including Turkey and Saudi Arabia. Features common to both disorders include Duane retraction syndrome with variable gaze palsies, sensorineural deafness associated with inner ear abnormalities, and delayed motor development. More variable features, observed in both disorders, include conotruncal cardiac malformations, cerebral vascular malformations, and impaired intellectual development with autism. Unique to ABDS are central hypoventilation, often resulting in early death, facial weakness, and more severe cognitive deficits. These features are thought to be due to a more severe malformation of the hindbrain in ABDS compared to BSAS (summary by Tischfield et al., 2005).|OMIM|N|
C1832216|Syndrome with characteristics of variable horizontal gaze dysfunction, profound and bilateral sensorineural deafness associated commonly with severe inner ear maldevelopment, cerebrovascular anomalies, cardiac malformation, developmental delay and occasionally autism. The syndrome is caused by homozygous mutations in the HOXA1 gene (7p15.2) and is transmitted in an autosomal recessive manner. The syndrome overlaps clinically and genetically with Athabaskan brain dysfunction syndrome, however unlike Athabaskan brain dysfunction syndrome it does not manifest central hypoventilation.|SNOMEDCT_US|N|
C1832229|Axenfeld-Rieger syndrome is a disorder of morphogenesis that results in abnormal development of the anterior segment of the eye, which results in blindness from glaucoma in approximately 50% of affected individuals. Systemic abnormalities, including cardiac and dental anomalies, are associated.
For a general phenotypic description and a discussion of genetic heterogeneity and nomenclature of Axenfeld-Rieger syndrome, see RIEG1 (180500).|OMIM|N|
C1832241|A rare form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by variable immune dysfunction with frequent and recurrent bacterial infections and/or chronic diarrhea.|ORDO|N|
C1832243|Left ventricular noncompaction is a heart (cardiac) muscle disorder that occurs when the lower left chamber of the heart (left ventricle), which helps the heart pump blood, does not develop correctly. Instead of the muscle being smooth and firm, the cardiac muscle in the left ventricle is thick and appears spongy. The abnormal cardiac muscle is weak and has an impaired ability to pump blood because it either cannot completely contract or it cannot completely relax. For the heart to pump blood normally, cardiac muscle must contract and relax fully.\n\nSome individuals with left ventricular noncompaction experience no symptoms at all; others have heart problems that can include sudden cardiac death. Additional signs and symptoms include abnormal blood clots, irregular heart rhythm (arrhythmia), a sensation of fluttering or pounding in the chest (palpitations), extreme fatigue during exercise (exercise intolerance), shortness of breath (dyspnea), fainting (syncope), swelling of the legs (lymphedema), and trouble laying down flat. Some affected individuals have features of other heart defects. Left ventricular noncompaction can be diagnosed at any age, from birth to late adulthood. Approximately two-thirds of individuals with left ventricular noncompaction develop heart failure.|MedlinePlus Genetics|N|
C1832244|An autosomal dominant subtype of dilated cardiomyopathy caused by mutation(s) in the LDB3 gene, encoding LIM domain-binding protein 3.|NCI|N|
C1832273|Camurati-Engelmann disease (CED) is characterized by hyperostosis of the long bones and the skull, proximal muscle weakness, limb pain, a wide-based, waddling gait, and joint contractures. Facial features such as macrocephaly, frontal bossing, enlargement of the mandible, proptosis, and cranial nerve impingement resulting in facial palsy are seen in severely affected individuals later in life.|GeneReviews|N|
C1832274|The phenotypic spectrum of GARS1-associated axonal neuropathy ranges from GARS1 infantile-onset SMA (GARS1-iSMA) to GARS1 adolescent- or early adult-onset hereditary motor/sensory neuropathy (GARS1-HMSN). GARS1-iSMA. Age of onset ranges from the neonatal period to the toddler years. Initial manifestations are typically respiratory distress, poor feeding, and muscle weakness (distal greater than proximal). Weakness is slowly progressive, ultimately requiring mechanical ventilation and feeding via gastrostomy tube. GARS1-HMSN. Age of onset is most commonly during the second decade (range eight to 36 years). Initial manifestations are typically muscle weakness in the hands sometimes with sensory deficits. Lower limb involvement (seen in ~50% of individuals) ranges from weakness and atrophy of the extensor digitorum brevis and weakness of toe dorsiflexors to classic peroneal muscular atrophy with foot drop and a high steppage gait.|GeneReviews|N|
C1832284|Hereditary congenital facial paresis (HCFP) is the isolated dysfunction of the facial nerve (CN VII).
HCFP is considered to be distinct from Moebius syndrome (157900), which shares some of the same clinical features.
Genetic Heterogeneity of Hereditary Congenital Facial Paresis
One locus for HCFP (HCFP1) has been mapped to chromosome 3q. Another locus (HCFP2; 604185) has been mapped to chromosome 10q. HCFP3 (614744) is caused by mutation in the HOXB1 gene (142968) on chromosome 17q21.|OMIM|N|
C1832321|An inflammatory bowel disease that has material basis in variation in the chromosome region 12p13.2-q24.1.|MONDO|N|
C1832322|Severe combined immunodeficiency refers to a genetically and clinically heterogeneous group of disorders with defective cellular and humoral immune function. Patients with SCID present in infancy with recurrent, persistent infections by opportunistic organisms, including Candida albicans, Pneumocystis carinii, and cytomegalovirus, among many others. Laboratory analysis shows profound lymphopenia with diminished or absent immunoglobulins. The common characteristic of all types of SCID is absence of T cell-mediated cellular immunity due to a defect in T-cell development. Without treatment, patients usually die within the first year of life. The overall prevalence of all types of SCID is approximately 1 in 75,000 births (Fischer et al., 1997; Buckley, 2004).
Genetic Heterogeneity of SCID
SCID can be divided into 2 main classes: those with B lymphocytes (B+ SCID) and those without (B- SCID). Presence or absence of NK cells is variable within these groups.
The most common form of SCID is X-linked T-, B+, NK- SCID (SCIDX1; 300400) caused by mutation in the IL2RG gene (308380) on chromosome Xq13.1.
Autosomal recessive SCID includes T-, B-, NK+ SCID, caused by mutation in the RAG1 and RAG2 genes on 11p13; T-, B+, NK- SCID (600802), caused by mutation in the JAK3 gene (600173) on 19p13; T-, B+, NK+ SCID (IMD104; 608971), caused by mutation in the IL7R gene (146661) on 5p13; T-, B+, NK+ SCID (IMD105; 619924), caused by mutation in the CD45 gene (PTPRC; 151460) on 1q31-q32; T-, B+, NK+ SCID (IMD19; 615617), caused by mutation in the CD3D gene (186790) on 11q23; T-, B-, NK- SCID (102700) caused by mutation in the ADA (608958) gene on 20q13; and T-, B-, NK+ SCID with sensitivity to ionizing radiation (602450), caused by mutation in the Artemis gene (DCLRE1C; 605988) on 10p13 (Kalman et al., 2004); and T-, B-, NK+ SCID with microcephaly, growth retardation, and sensitivity to ionizing radiation (611291), caused by mutation in the NHEJ1 gene (611290) on 2q35.
Approximately 20 to 30% of all SCID patients are T-, B-, NK+, and approximately half of these patients have mutations in the RAG1 or RAG2 genes (Schwarz et al., 1996; Fischer et al., 1997).|OMIM|N|
C1832323|Insufficient weight gain or inappropriate weight loss for a child, that is attributed to an endogenous recurrent infections.|HPO|N|
C1832324|Increased susceptibility to opportunistic infections, as manifested by recurrent episodes of infection by opportunistic agents, i.e., by microorganisms that do not usually cause disease in a healthy host, but are able to infect a host with a compromised immune system.|HPO|N|
C1832334|Charcot-Marie-Tooth disease type 4D (CMT4D) is an autosomal recessive disorder of the peripheral nervous system characterized by early-onset distal muscle weakness and atrophy, foot deformities, and sensory loss affecting all modalities. Affected individuals develop deafness by the third decade of life (summary by Okamoto et al., 2014).
For a phenotypic description and a discussion of genetic heterogeneity of autosomal recessive Charcot-Marie-Tooth disease, see CMT4A (214400).|OMIM|N|
C1832338|A reduction in the number of axons in the peripheral nervous system.|HPO|N|
C1832348|Hair whose growth is slower than normal.|HPO|N|
C1832352|The OAFNS phenotype combines abnormalities of the morphogenesis of the first and second branchial arches (microtia/skin tags, epibulbar dermoids, cleft lip/palate, mandibular hypoplasia, and facial asymmetry) with malformations due to the anomalous development of the frontonasal eminence and maxillary processes (notched/bifid nasal tip, cleft lip and/or palate, and encephalocele) (Gabbett et al., 2008).|OMIM|N|
C1832353|Dislocation of the hip-dysmorphism syndrome is a rare multiple congenital anomalies syndrome characterized by bilateral congenital dislocation of the hip, characteristic facial features (flat mid-face, hypertelorism, epicanthus, puffiness around the eyes, broad nasal bridge, carp-shaped mouth), and joint hyperextensibility. Congenital heart defects, congenital dislocation of the knee, congenital inguinal hernia, and vesicoureteric reflux have also been reported. There have been no further descriptions in the literature since 1995.|ORDO|N|
C1832354|A hearing loss condition that appears as a consequence of annular ligament destruction followed by excessive connective tissue production during the healing process. This condition is mainly observed in otosclerosis, but is also found in chronic otitis media with tympanosclerosis, and other rare bone diseases such as Paget''s disease and osteogenesis imperfecta (Lobstein disease).|SNOMEDCT_US|N|
C1832359|A rare primary bone dysplasia with characteristics of short stature, severe rhizomelic shortening of the upper limbs associated with specific malformations of humeri (including marked widening and flattening of proximal metaphyses, medial flattening of the proximal epiphyses, and lateral bowing with medial cortical thickening of the proximal diaphyses), marked coxa vara with dysplastic femoral heads and brachymetacarpia.|SNOMEDCT_US|N|
C1832362|A rare, congenital malformation syndrome characterized by the association of anterior ocular chamber cleavage disorder with developmental delay, short stature and congenital hypothyroidism. Additional manifestations include cerebellar hypoplasia, tracheal stenosis, narrow external auditory meatus, and hip dislocation. There have been no further description in the literature since 1995.|ORDO|N|
C1832370|Myofibrillar myopathy (MFM) is a noncommittal term that refers to a group of morphologically homogeneous, but genetically heterogeneous chronic neuromuscular disorders. The morphologic changes in skeletal muscle in MFM result from disintegration of the sarcomeric Z disc and the myofibrils, followed by abnormal ectopic accumulation of multiple proteins involved in the structure of the Z disc, including desmin, alpha-B-crystallin (CRYAB; 123590), dystrophin (300377), and myotilin (TTID; 604103).
Genetic Heterogeneity of Myofibrillar Myopathy
Other forms of MFM include MFM2 (608810), caused by mutation in the CRYAB gene (123590); MFM3 (609200), caused by mutation in the MYOT gene (604103); MFM4 (609452), caused by mutation in the ZASP gene (LDB3; 605906); MFM5 (609524), caused by mutation in the FLNC gene (102565); MFM6 (612954), caused by mutation in the BAG3 gene (603883); MFM7 (617114), caused by mutation in the KY gene (605739); MFM8 (617258), caused by mutation in the PYROXD1 gene (617220); MFM9 (603689), caused by mutation in the TTN gene (188840); MFM10 (619040), caused by mutation in the SVIL UNC45B gene (611220); MFM11 (619178), caused by mutation in the UNC45B gene (611220); and MFM12 (619424), caused by mutation in the MYL2 gene (160781).
'Desmin-related myopathy' is another term referring to MFM in which there are intrasarcoplasmic aggregates of desmin, usually in addition to other sarcomeric proteins. Rigid spine syndrome (602771), caused by mutation in the SEPN1 gene (606210), is another desmin-related myopathy. Goebel (1995) provided a review of desmin-related myopathy.|OMIM|N|
C1832378|Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF3 gene.|MONDO|N|
C1832379|Autosomal dominant deafness-7 (DFNA7) is a form of progressive sensorineural hearing loss with highly variable age at onset and severity, even within families. The age at onset ranges from congenital to mid-adulthood. Some patients may have associated vertigo (summary by Wesdorp et al., 2018).|OMIM|N|
C1832386|6q24-related transient neonatal diabetes mellitus (6q24-TNDM) is defined as transient neonatal diabetes mellitus caused by genetic aberrations of the imprinted locus at 6q24. The cardinal features are: severe intrauterine growth retardation, hyperglycemia that begins in the neonatal period in a term infant and resolves by age 18 months, dehydration, and absence of ketoacidosis. Macroglossia and umbilical hernia may be present. 6q24-TNDM associated with a multilocus imprinting disturbance (MLID) can be associated with marked hypotonia, congenital heart disease, deafness, neurologic features including epilepsy, and renal malformations. Diabetes mellitus usually starts within the first week of life and lasts on average three months but can last longer than a year. Although insulin is usually required initially, the need for insulin gradually declines over time. Intermittent episodes of hyperglycemia may occur in childhood, particularly during intercurrent illnesses. Diabetes mellitus may recur in adolescence or later in adulthood. Women who have had 6q24-TNDM are at risk for relapse during pregnancy.|GeneReviews|N|
C1832388|RUNX1 familial platelet disorder with associated myeloid malignancies (RUNX1-FPDMM) is characterized by prolonged bleeding and/or easy bruising and an increased risk of developing a hematologic malignancy. RUNX1-FPDMM is characterized by thrombocytopenia with normal platelet size; bleeding is often greater than expected due to qualitative platelet dysfunction. Myeloid malignancies are the most common, including acute myelogenous leukemia (and myelodysplastic syndrome. T- and B-cell acute lymphoblastic leukemias and lymphomas have also been reported, as well as skin manifestations (e.g., eczema, psoriasis).|GeneReviews|N|
C1832390|A rare multiple congenital anomalies syndrome with mild to severe intellectual disability, a distinctive facial gestalt (blepharophimosis, maxillary hypoplasia, telecanthus, microtia and atresia of the external auditory meatus) as well as skeletal and articular abnormalities (e.g. camptodactyly of the fingers, cutaneous syndactyly, talipes equinovarus, flexion contractures of the proximal interphalangeal joints, hip or elbow subluxation, joint laxity). May also present with neonatal hypotonia, variable respiratory manifestations, chronic feeding difficulties and grey matter heterotopia.|SNOMEDCT_US|N|
C1832392|Over many years, the chronic high blood glucose associated with diabetes may cause damage to blood vessels and nerves, leading to complications affecting many organs and tissues. The retina, which is the light-sensitive tissue at the back of the eye, can be damaged (diabetic retinopathy), leading to vision loss and eventual blindness. Kidney damage (diabetic nephropathy) may also occur and can lead to kidney failure and end-stage renal disease (ESRD). Pain, tingling, and loss of normal sensation (diabetic neuropathy) often occur, especially in the feet. Impaired circulation and absence of the normal sensations that prompt reaction to injury can result in permanent damage to the feet; in severe cases, the damage can lead to amputation. People with type 1 diabetes are also at increased risk of heart attacks, strokes, and problems with urinary and sexual function.\n\nUncontrolled type 1 diabetes can lead to a life-threatening complication called diabetic ketoacidosis. Without insulin, cells cannot take in glucose. A lack of glucose in cells prompts the liver to try to compensate by releasing more glucose into the blood, and blood glucose can become extremely high. The cells, unable to use the glucose in the blood for energy, respond by using fats instead. Breaking down fats to obtain energy produces waste products called ketones, which can build up to toxic levels in people with type 1 diabetes, resulting in diabetic ketoacidosis. Affected individuals may begin breathing rapidly; develop a fruity odor in the breath; and experience nausea, vomiting, facial flushing, stomach pain, and dryness of the mouth (xerostomia). In severe cases, diabetic ketoacidosis can lead to coma and death.\n\nType 1 diabetes can occur at any age, from early childhood to late adulthood. The first signs and symptoms of the disorder are caused by high blood glucose and may include frequent urination (polyuria), excessive thirst (polydipsia), fatigue, blurred vision, tingling or loss of feeling in the hands and feet, and weight loss. These symptoms may recur during the course of the disorder if blood glucose is not well controlled by insulin replacement therapy. Improper control can also cause blood glucose levels to become too low (hypoglycemia). This may occur when the body's needs change, such as during exercise or if eating is delayed. Hypoglycemia can cause headache, dizziness, hunger, shaking, sweating, weakness, and agitation.\n\nType 1 diabetes is a disorder characterized by abnormally high levels of blood glucose, also called blood sugar. In this form of diabetes, specialized cells in the pancreas called beta cells stop producing insulin. Insulin controls how much glucose (a type of sugar) is passed from the blood into cells for conversion to energy. Lack of insulin results in the inability to use glucose for energy or to control the amount of glucose in the blood.|MedlinePlus Genetics|N|
C1832394|An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has material basis in mutation in the CDH23 gene on chromosome 10q22.|MONDO|N|
C1832399|Charcot-Marie-Tooth disease, type 4B1 (CMT4B1) is a severe early-onset demyelinating CMT peripheral sensorimotor polyneuropathy. It was initially described in an Italian family and around 10 additional families have been described so far. Onset occurs during early childhood with distal and proximal muscular weakness starting in the lower extremities, sensory loss and cranial nerve involvement. Foot deformities are frequent and diaphragmatic and facial involvement has been reported. CMT4B1 is caused by mutations in the gene encoding myotubularin-related protein 2 (MTMR2; 11q22), involved in polyphosphoinositide signaling. Transmitted in an autosomal recessive manner.|SNOMEDCT_US|N|
C1832408|This syndrome has characteristics of craniosynostosis, intellectual deficit, short stature, facial dysmorphism (oval face with almond-shaped palpebral fissures, droopy eyelids and a small nose) and minor distal anomalies. It has been described in 10 patients. Transmission is autosomal dominant and the syndrome is associated with partial duplication of the long arm of chromosome 5 (5q35-5qter).|SNOMEDCT_US|N|
C1832409|Cold-induced sweating syndrome (CISS) and its infantile presentation, Crisponi syndrome(CS) is characterized by dysmorphic features (distinctive facies, lower facial weakness, flexion deformity at the elbows, camptodactyly with fisted hands, misshapen feet, and overriding toes); intermittent contracture of facial and oropharyngeal muscles when crying or being handled with puckering of lips and drooling of foamy saliva often associated with laryngospasm and respiratory distress; excessive startling and opisthotonus-like posturing with unexpected tactile or auditory stimuli; poor suck reflex and severely impaired swallowing; and a scaly erythematous rash. During the first decade of life, children with CISS/CS develop profuse sweating of the face, arms, and chest with ambient temperatures below 18º to 22º C, and with other stimuli including nervousness or ingestion of sweets. Affected individuals sweat very little in hot environments and may feel overheated. Progressive thoracolumbar kyphoscoliosis occurs, requiring intervention in the second decade.|GeneReviews|N|
C1832411|A rare ectodermal dysplasia syndrome with characteristics of tricho and onychodysplasia in association with cardiac rhythm abnormalities. Patients present with sparse scalp hair and eyelashes, absent or sparse eyebrows, dystrophic thickened nails (on fingers distal end may be lifted from the nail bed) and supraventricular tachycardia or sinus bradycardia.|SNOMEDCT_US|N|
C1832412|A rare genetic non-syndromic central nervous system malformation with characteristics of absence of the telencephalon and absent or abnormal diencephalic structures, combined with severe abnormalities of the mesencephalon and cerebellum. Further malformations, for example of the hands and feet, have been described in addition.|SNOMEDCT_US|N|
C1832423|A type of age-related cataract that primarily affects the nucleus of the lens.|HPO|N|
C1832424|Holoprosencephaly-craniosynostosis syndrome is a rare developmental defect during embryogenesis syndrome characterized by the association of primary craniosynostosis (usually involving the coronal and metopic sutures) with holoprosencephaly (ranging from alobar to, most commonly, semilobar) and various skeletal anomalies (typically, hand and feet anomalies including fifth digit clinodactyly, hypoplastic phalanges and cone-shaped epiphyses, small vertebral bodies, scoliosis, coxa valga and/or flexion deformities of hips). Craniofacial asymmetry, microcephaly, brachy/plagiocephaly, short stature and psychomotor delay are additional common features.|ORDO|N|
C1832425|DFNA9 is an autosomal dominant adult-onset form of progressive sensorineural hearing loss associated with variable vestibular dysfunction (summary by Robertson et al., 2006).|OMIM|N|
C1832426|Wilms tumor can develop in one or both kidneys. About 5 to 10 percent of affected individuals develop multiple tumors in one or both kidneys. Wilms tumor may spread from the kidneys to other parts of the body (metastasize). In rare cases, Wilms tumor does not involve the kidneys and occurs instead in the genital tract, bladder, abdomen, chest, or lower back. It is unclear how Wilms tumor develops in these tissues.\n\nWilms tumor is often first noticed because of abdominal swelling or a mass in the kidney that can be felt upon physical examination. Some affected children have abdominal pain, fever, a low number of red blood cells (anemia), blood in the urine (hematuria), or high blood pressure (hypertension). Additional signs of Wilms tumor can include loss of appetite, weight loss, nausea, vomiting, and tiredness (lethargy).\n\nWith proper treatment, children with Wilms tumor have a 90 percent survival rate. However, the risk that the cancer will come back (recur) is between 15 and 50 percent, depending on traits of the original tumor. Tumors usually recur in the first 2 years following treatment and develop in the kidneys or other tissues, such as the lungs. Individuals who have had Wilms tumor may experience related health problems or late effects of their treatment in adulthood, such as decreased kidney function, heart disease, and development of additional cancers.\n\nWilms tumor is a form of kidney cancer that primarily develops in children. Nearly all cases of Wilms tumor are diagnosed before the age of 10, with two-thirds being found before age 5.|MedlinePlus Genetics|N|
C1832431|Distal monosomy 10p is a rare chromosomal disorder in which the tip of the short arm (p arm) of chromosome 10 is deleted resulting in a variable phenotype depending on the size of the deletion. The deletion may involve only the terminal 10p15 band, or extend towards the centromere to bands 10p14 or 10p13.|ORDO|N|
C1832432|Posterior amelia with pelvic and pulmonary hypoplasia syndrome (PAPPAS) is characterized by absent lower limbs, severely hypoplastic or absent pelvic bones, and hypoplasia of the sacrum, as well as hypoplasia of the lungs with pulmonary segmentation defect. Ambiguous genitalia have also been observed (Kariminejad et al., 2019).
Heterozygous mutation in the TBX4 gene causes ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension (ICPPS; 147891).|OMIM|N|
C1832434|Brachial amelia, cleft lip, and holoprosencephaly (ACLH) is a severe multiple congenital anomaly disorder characterized by brachial amelia, cleft lip, and forebrain defects consistent with holoprosencephaly. Although the disorder is rarely reported, the features are consistent enough to constitute a distinct entity (summary by Kariminejad et al., 2009).|OMIM|N|
C1832436|Microcephaly - cardiac defect - lung malsegmentation syndrome is a very rare syndrome characterized by the combination of microcephaly, heart defects, renal hypoplasia, lung segmentation defects and cleft palate.|ORDO|N|
C1832437|A rare multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, hypotonia, seizures, microcephaly, delayed bone maturation, and skeletal abnormalities (such as scoliosis or pectus excavatum, among others). Dysmorphic features include coarse face, hirsutism, thick eyebrows, broad nasal septum, short philtrum, large mouth, and prominent ears. There have been no further descriptions in the literature since 1996.|ORDO|N|
C1832438|This syndrome has characteristics of sensorineural deafness, short stature, femoral epiphyseal dysplasia, umbilical and inguinal hernias and developmental delay (growth retardation and mild intellectual deficit). It has been described in two brothers born to consanguineous parents. They also have dysmorphic features (triangular face, pointed chin) and bilateral obstruction of lacrimal ducts. This syndrome is transmitted as an autosomal recessive trait.|SNOMEDCT_US|N|
C1832439|This syndrome has characteristics of short stature presenting in the neonatal period, associated with osteochondrodysplastic lesions and facial dysmorphism. It has been described in two members from the same family.|SNOMEDCT_US|N|
C1832440|A congenital syndromic form of split-hand/foot malformation with features of microcephaly, microphthalmia, ectrodactyly of the lower limbs and prognathism. Intellectual deficit has been reported. MMEP syndrome is considered to be a very rare condition. Disruption of the sorting nexin 3 gene (SNX3; 6q21) has been shown to play a causative role in MMEP.|SNOMEDCT_US|N|
C1832443|The Martinez-Frias syndrome is characterized by pancreatic hypoplasia, intestinal atresia, and gallbladder aplasia or hypoplasia, with or without tracheoesophageal fistula. There is considerable phenotypic overlap between Martinez-Frias syndrome and Mitchell-Riley syndrome (MTCHRS; 615710), the latter being characterized by neonatal diabetes in addition to the features of the Martinez-Frias syndrome, but without tracheoesophageal fistula (Smith et al., 2010).|OMIM|N|
C1832444|A rare disorder with manifestation of hypo or oligodontia and acanthosis nigricans. It has been described in four generations of one family. Onset generally occurs during adolescence. Some patients are born with multiple teeth. Hair anomalies (sparse body and scalp hair) also reported. Inheritance is autosomal dominant.|SNOMEDCT_US|N|
C1832446|Decreased density/number of eyebrow hairs.|HPO|N|
C1832451|Excessive growth of the bones of cranium, i.e., of the skull.|HPO|N|
C1832455|Underdevelopment of the sweat glands.|HPO|N|
C1832466|ATP1A3-related neurologic disorders represent a clinical continuum in which at least three distinct phenotypes have been delineated: rapid-onset dystonia-parkinsonism (RDP); alternating hemiplegia of childhood (ACH); and cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS). However, some affected individuals have intermediate phenotypes or only a few features that do not fit well into one of these major phenotypes. RDP has been characterized by: abrupt onset of dystonia over days to weeks with parkinsonism (primarily bradykinesia and postural instability); common bulbar involvement; and absence or minimal response to an adequate trial of L-dopa therapy, with few exceptions. Often fever, physiologic stress, or alcoholic binges trigger the onset of symptoms. After their initial appearance, symptoms often stabilize with little improvement; occasionally second episodes occur with abrupt worsening of symptoms. Rarely, affected individuals have reported a more gradual onset of symptoms over weeks to months. Anxiety, depression, and seizures have been reported. Age of onset ranges from four to 55 years, although a childhood variation of RDP with onset between ages nine and 14 months has been reported. AHC is a complex neurodevelopmental syndrome most frequently manifesting in infancy or early childhood with paroxysmal episodic neurologic dysfunction including alternating hemiparesis or dystonia, quadriparesis, seizure-like episodes, and oculomotor abnormalities. Episodes can last for minutes, hours, days, or even weeks. Remission of symptoms occurs with sleep and immediately after awakening. Over time, persistent neurologic deficits including oculomotor apraxia, ataxia, choreoathetosis, dystonia, parkinsonism, and cognitive and behavioral dysfunction develop in the majority of those affected; more than 50% develop epilepsy in addition to their episodic movement disorder phenotype. CAPOS (cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss) syndrome is characterized by episodes of ataxic encephalopathy and/or weakness during and after a febrile illness. Onset is between ages six months and four years. Some acute symptoms resolve; progression of sensory losses and severity vary.|GeneReviews|N|
C1832472|Porencephaly-cerebellar hypoplasia-internal malformations syndrome is rare central nervous system malformation syndrome characterized by bilateral porencephaly, absence of the septum pellucidum and cerebellar hypoplasia with absent vermis. Additionally, dysmorphic facial features (hypertelorism, epicanthic folds, high arched palate, prominent metopic suture), macrocephaly, corneal clouding, situs inversus, tetralogy of Fallot, atrial septal defects and/or seizures have been observed.|ORDO|N|
C1832473|Odontomicronychial dysplasia is a rare, hereditary ectodermal dysplasia syndrome characterized by involvement of teeth and nails - precocious eruption and shedding of deciduous dentition, precocious eruption of secondary dentition with short, rhomboid roots, and short, thin, slow growing nails.|ORDO|N|
C1832474|An inherited susceptibility or predisposition to developing type 1 diabetes mellituss that has material basis in mutation of the locus at chromosome 2q34.|MONDO|N|
C1832475|Autosomal dominant deafness-11 is a nonsyndromic form of progressive neurosensory hearing loss with postlingual onset. Some affected individuals have mild vestibular symptoms (summary by Sun et al., 2011).|OMIM|N|
C1832476|Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the EYA4 gene.|MONDO|N|
C1832525|Autosomal recessive limb-girdle muscular dystrophy-6 (LGMDR6) is a very rare and severe neuromuscular disorder with onset in most patients in the first decade of life. Generalized muscle weakness affecting predominantly proximal and distal muscles of the limbs is progressive, and patients require walking aids or become wheelchair-bound. Some patients have cardiomyopathy or heart rhythm abnormalities, or require ventilatory support (Alonso-Perez et al., 2022).
For a discussion of genetic heterogeneity of autosomal recessive limb-girdle muscular dystrophy, see LGMDR1 (253600).|OMIM|N|
C1832550|Autosomal recessive congenital ichthyosis (ARCI) encompasses several forms of nonsyndromic ichthyosis. Although most neonates with ARCI are collodion babies, the clinical presentation and severity of ARCI may vary significantly, ranging from harlequin ichthyosis, the most severe and often fatal form, to lamellar ichthyosis (LI) and (nonbullous) congenital ichthyosiform erythroderma (CIE). These phenotypes are now recognized to fall on a continuum; however, the phenotypic descriptions are clinically useful for clarification of prognosis and management. Infants with harlequin ichthyosis are usually born prematurely and are encased in thick, hard, armor-like plates of cornified skin that severely restrict movement. Life-threatening complications in the immediate postnatal period include respiratory distress, feeding problems, and systemic infection. Collodion babies are born with a taut, shiny, translucent or opaque membrane that encases the entire body and lasts for days to weeks. LI and CIE are seemingly distinct phenotypes: classic, severe LI with dark brown, plate-like scale with no erythroderma and CIE with finer whiter scale and underlying generalized redness of the skin. Affected individuals with severe involvement can have ectropion, eclabium, scarring alopecia involving the scalp and eyebrows, and palmar and plantar keratoderma. Besides these major forms of nonsyndromic ichthyosis, a few rare subtypes have been recognized, such as bathing suit ichthyosis, self-improving collodion ichthyosis, or ichthyosis-prematurity syndrome.|GeneReviews|N|
C1832560|Hereditary rippling muscle disease is an autosomal dominant disorder characterized by mechanically triggered contractions of skeletal muscle. In rippling muscle disease, mechanical stimulation leads to electrically silent muscle contractions that spread to neighboring fibers that cause visible ripples to move over the muscle. RMD is usually inherited as an autosomal dominant trait, but autosomal recessive inheritance has also been reported (Kubisch et al., 2005).
Genetic Heterogeneity of Rippling Muscle Disease
Another locus for RMD, designated RMD1 (600332), maps to chromosome 1q41.|OMIM|N|
C1832567|A sub-type of limb-girdle muscular dystrophy caused by mutation(s) in the CAV3 gene, encoding caveolin-3.|NCI|N|
C1832585|Cayman cerebellar ataxia (ATCAY) is an autosomal recessive neurologic disorder characterized by hypotonia from birth, variable psychomotor retardation, and cerebellar dysfunction, including nystagmus, intention tremor, dysarthria, ataxic gait, and truncal ataxia. Although the disorder was initially believed to be restricted to an isolated region of Grand Cayman Island (summary by Nystuen et al., 1996; Bomar et al., 2003), one Pakistani family with the disorder and an ATCAY mutation has been reported, thus expanding the ethnic distribution (Manzoor et al., 2018).|OMIM|N|
C1832586|Dermatitis herpetiformis (DH) and celiac disease (CD; see 212750) are gluten-sensitive diseases. In classic CD the small intestine is predominantly affected, whereas in DH the skin is also affected, showing typical rash and IgA deposits.|OMIM|N|
C1832587|The hereditary mixed polyposis syndrome (HMPS) is characterized by atypical juvenile polyps, colonic adenomas, and colorectal carcinomas (CRC).
Genetic Heterogeneity of Hereditary Mixed Polyposis
HMPS2 (610069) is caused by mutation in the BMPR1A gene (601299) on chromosome 10q23.|OMIM|N|
C1832588|Potocki-Shaffer syndrome is a rare contiguous gene deletion syndrome due to haploinsufficiency of the 11p12-p11.2 region and is characterized by craniofacial abnormalities, developmental delay, intellectual disability, multiple exostoses (168500), and biparietal foramina (609597) (summary by Swarr et al., 2010).|OMIM|N|
C1832590|A form of syndromic craniosynostosis with characteristics of sagittal/dolichocephalic head shape with a relatively normal facial appearance and complete soft tissue syndactyly of hand and foot. Transmission is autosomal dominant with variable expression of the hand findings, and incomplete penetrance of the sagittal craniosynostosis.|SNOMEDCT_US|N|
C1832592|Syndrome with characteristics of osteoporosis and congenital oculocutaneous hypopigmentation. Three cases have been described in the literature. The mode of inheritance appears to be autosomal recessive.|SNOMEDCT_US|N|
C1832593|A rare syndromic intellectual disability characterized by the association of total, congenital alopecia, mild intellectual deficit and hypergonadotropic hypogonadism. Reported electroencephalography findings were normal.|ORDO|N|
C1832594|Dental anomalies and short stature (DASS) is characterized by significant short stature with brachyolmia as well as hypoplastic amelogenesis imperfecta with almost absent enamel (Huckert et al., 2015). Some patients exhibit valvular and/or vascular defects, including mitral valve prolapse, aortic root dilation, and aortic as well as other arterial aneurysms (Dugan et al., 2015; Guo et al., 2018). Inter- and intrafamilial variability has been reported.|OMIM|N|
C1832597|The presence of one or more herniated nucleus pulposus of intervertebral disk.|HPO|N|
C1832598|A reduction of the distance between vertebral pedicles, which are the two short, thick processes, which project backward, one on either side, from the upper part of the vertebral body, at the junction of its posterior and lateral surfaces.|HPO|N|
C1832600|Naxos disease (NXD) is characterized by arrhythmogenic right ventricular cardiomyopathy associated with abnormalities of the skin, hair, and nails. The ectodermal features are evident from birth or early childhood, whereas the cardiac symptoms develop in young adulthood or later. Clinical variability of ectodermal features has been observed, with hair anomalies ranging from woolly hair to alopecia, and skin abnormalities ranging from mild focal palmoplantar keratoderma to generalized skin fragility or even lethal neonatal epidermolysis bullosa (Protonotarios et al., 1986; Cabral et al., 2010; Pigors et al., 2011; Erken et al., 2011; Sen-Chowdhry and McKenna, 2014).
Another syndrome involving cardiomyopathy, woolly hair, and keratoderma (DCWHK; 605676) is caused by mutation in the desmoplakin gene (DSP; 125647). Also see 610476 for a similar disorder caused by homozygous mutation in the DSC2 gene (125645).|OMIM|N|
C1832605|An inherited susceptibility or predisposition to developing type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 14q24.3-q31.|MONDO|N|
C1832609|Anterior polar cataracts are small opacities on the anterior surface of the lens. They usually do not interfere with vision (Moross et al., 1984).
The preferred title/symbol of this entry was formerly 'Cataract, Anterior Polar, 2; CTAA2.'|OMIM|N|
C1832615|Neonatal severe hyperparathyroidism usually manifests in the first 6 months of life with severe hypercalcemia, bone demineralization, and failure to thrive. Early diagnosis is critical because untreated NSHPT can be a devastating neurodevelopmental disorder, which in some cases is lethal without parathyroidectomy. Some infants have milder hyperparathyroidism and a substantially milder clinical presentation and natural history (summary by Egbuna and Brown, 2008).|OMIM|N|
C1832648|A rare heterogeneous group of metabolic disorders with abnormal calcium metabolism due to deficient secretion of parathormone (PTH) without other endocrine disorders or developmental defects. It can occur at any age (from the newborn period to adulthood) but generally starts within the first decade of life. The disease may be due to an activating mutation of the calcium-sensing receptor (CASR) gene. This is the most common genetic cause and is transmitted as an autosomal dominant trait. It represents 42% of isolated hypoparathyroidism cases. Thirteen mutations have been described in familial or sporadic cases. In three families, mutations in the PTH gene have been identified. One family has been reported with a mutation in the gene encoding the glial cells missing homolog b (GCMB) transcription factor.|SNOMEDCT_US|N|
C1832661|Syndromic microphthalmia-9 (MCOPS9), also referred to as pulmonary hypoplasia-diaphragmatic hernia-anophthalmia-cardiac defect, is characterized by bilateral clinical anophthalmia, pulmonary hypoplasia/aplasia, cardiac malformations, and diaphragmatic defects. The phenotype is variable, ranging from isolated clinical anophthalmia or microphthalmia to complex presentations involving the cardiac, pulmonary, diaphragmatic, and renal systems. At its most severe, infants are born without pulmonary structures and die soon after birth (Marcadier et al., 2015).|OMIM|N|
C1832668|Diaphragmatic defect-limb deficiency-skull defect syndrome is characterized by the association of classical diaphragmatic hernia (Bochdalek type) with severe lung hypoplasia, and variable associated malformations.|ORDO|N|
C1832669|Any autosomal dominant complex spastic paraplegia in which the cause of the disease is a mutation in the ALDH18A1 gene.|MONDO|N|
C1832678|This syndrome is characterised by severe microcephaly, agyria, agenesis of the corpus callosum, cerebellar hypoplasia, facial dysmorphology and epiphyseal stippling of the metacarpal bones. It has been described in two brothers. The syndrome is transmitted as an autosomal recessive trait and may be an allelic variant of Neu-Laxova syndrome and Lissencephaly type III with cystic dilations of the cerebellum and foetal akinesia sequence (see these terms).|ORDO|N|
C1832680|Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the SCN5A gene.|MONDO|N|
C1832702|Brachydactyly type A2 is an autosomal dominant disorder characterized by malformations of the middle phalanx of the index finger and by anomalies of the second toe (summary by Su et al., 2011).|OMIM|N|
C1832708|Multiple synostoses syndrome-2 (SYNS2) is an autosomal dominant disorder characterized by progressive joint fusions of the fingers, wrists, ankles, and cervical spine; characteristic facies, including a broad hemicylindrical nose; and progressive conductive hearing loss (summary by Dawson et al., 2006).
For a general phenotypic description and a discussion of genetic heterogeneity of multiple synostoses syndrome, see SYNS1 (186500).|OMIM|N|
C1832735|A rare disorder characterised by tetralogy of Fallot, minor facial anomalies, and severe intellectual deficiency and growth delay. Dysmorphic features include large, protruding, abnormally modelled ears and broad nasal root. Microcephaly and syndactyly of second and third toes have also been recorded. All patients have severe intellectual deficiency. The condition is transmitted as an autosomal recessive trait.|SNOMEDCT_US|N|
C1832736|Congenital disorders of glycosylation (CDGs) are a genetically heterogeneous group of autosomal recessive disorders caused by enzymatic defects in the synthesis and processing of asparagine (N)-linked glycans or oligosaccharides on glycoproteins. Type I CDGs comprise defects in the assembly of the dolichol lipid-linked oligosaccharide (LLO) chain and its transfer to the nascent protein. These disorders can be identified by a characteristic abnormal isoelectric focusing profile of plasma transferrin (Leroy, 2006).
CDG1D is a type I CDG that generally presents with severe neurologic involvement associated with dysmorphism and visual impairment. Liver involvement is sometimes present (summary by Marques-da-Silva et al., 2017).
For a discussion of the classification of CDGs, see CDG1A (212065).|OMIM|N|
C1832774|Hereditary hemorrhagic telangiectasia (HHT) is characterized by the presence of multiple arteriovenous malformations (AVMs) that lack intervening capillaries and result in direct connections between arteries and veins. The most common clinical manifestation is spontaneous and recurrent nosebleeds (epistaxis) beginning on average at age 12 years. Telangiectases (small AVMs) are characteristically found on the lips, tongue, buccal and gastrointestinal (GI) mucosa, face, and fingers. The appearance of telangiectases is generally later than epistaxis but may be during childhood. Large AVMs occur most often in the lungs, liver, or brain; complications from bleeding or shunting may be sudden and catastrophic. A minority of individuals with HHT have GI bleeding, which is rarely seen before age 50 years.|GeneReviews|N|
C1832812|Aymé-Gripp syndrome is classically defined as the triad of bilateral early cataracts, sensorineural hearing loss, and characteristic facial features in combination with neurodevelopmental abnormalities. The facial features are often described as "Down syndrome-like" and include brachycephaly, flat facial appearance, short nose, long philtrum, narrow mouth, and low-set and posteriorly rotated ears. Hearing loss is often congenital. Other features may include postnatal short stature, seizure disorder, nonspecific brain abnormalities on head imaging, skeletal abnormalities, and joint limitations. A subset of individuals have been found to have pericarditis or pericardial effusion during the neonatal or infantile period. All affected individuals have had developmental delay, but the degree of cognitive impairment is extremely variable. Other features including gastrointestinal and endocrine abnormalities, ectodermal dysplasia (i.e., nail dystrophy and mammary gland hypoplasia), dental anomalies, and chronic glomerulopathy with proteinuria have been reported in rare affected individuals.|GeneReviews|N|
C1832826|A rare disorder characterised by the association of aplasia cutis congenita with high myopia, congenital nystagmus and cone-rod dysfunction. It has been described in two siblings (brother and sister). Transmission is autosomal dominant.|ORDO|N|
C1832827|An autosomal recessive nonsyndromic deafness that has material basis in mutation in the TMPRSS3 gene on chromosome 21q22.|MONDO|N|
C1832828|OTOF-related deafness is characterized by two phenotypes: prelingual nonsyndromic auditory neuropathy spectrum disorder (ANSD) and, less frequently, temperature-sensitive auditory neuropathy spectrum disorder (TS-ANSD). OTOF-related ANSD is characterized by congenital or prelingual, typically severe-to-profound bilateral deafness without inner-ear anomalies on MRI or CT examination of the temporal bones. Otoacoustic emissions (OAEs) are present and auditory brain stem response is abnormal at birth. Newborn hearing screening testing of OAEs only will fail to detect this disorder in most individuals. OAEs may decrease or disappear with age in 20%-80% of individuals. TS-ANSD typically presents with normal-to-moderate hearing loss (0-55 dB) at baseline body temperature. An elevation of body temperature (approximately 0.5°C or more) triggers significant bilateral hearing loss ranging from severe to profound, with resolution of hearing loss typically occurring within hours of a return to baseline body temperature.|GeneReviews|N|
C1832834|Absence of the acoustic reflex, an involuntary contraction of the stapedius muscle that occurs in response to high-intensity sound stimuli.|HPO|N|
C1832841|Familial adult myoclonic epilepsy-1 (FAME1), also known as familial cortical myoclonic tremor associated with epilepsy-1 (FCMTE1), is characterized by autosomal dominant, adult-onset cortical myoclonus, with seizures in 40% of patients. Myoclonus is usually the first symptom and is characterized by tremulous finger movements and myoclonus of the extremities (summary by Depienne et al., 2010). FAME1 tends to occur in patients of southern Asian descent (summary by Bennett et al., 2020).
Genetic Heterogeneity of Familial Adult Myoclonic Epilepsy
See also FAME2 (607876), caused by mutation in the STARD7 gene (616712) on chromosome 2q11; FAME3 (613608), caused by mutation in the MARCHF6 gene (613297) on chromosome 5p15; FAME4 (615127), which maps to chromosome 3q26.32-q28; FAME6 (618074), caused by mutation in the TNRC6A gene (610739) on chromosome 16p12; and FAME7 (618075), caused by mutation in the RAPGEF2 gene (609530) on chromosome 4.
The disorder previously designated FAME5 has been reclassified as a type of autosomal recessive early-onset epilepsy (EPEO5; 615400).
Progressive myoclonic epilepsy is a more severe disorder (see, e.g., EPM1, 254800).|OMIM|N|
C1832845|Usher syndrome type I (USH1) is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa (RP). Unless fitted with a cochlear implant, individuals do not typically develop speech. RP, a progressive, bilateral, symmetric degeneration of rod and cone functions of the retina, develops in adolescence, resulting in progressively constricted visual fields and impaired visual acuity.|GeneReviews|N|
C1832855|The phenotypic spectrum of glucose transporter type 1 deficiency syndrome (Glut1 DS) is now known to be a continuum that includes the classic phenotype as well as paroxysmal exercise-induced dyskinesia and epilepsy (previously known as dystonia 18 [DYT18]) and paroxysmal choreoathetosis with spasticity (previously known as dystonia 9 [DYT9]), atypical childhood absence epilepsy, myoclonic astatic epilepsy, and paroxysmal non-epileptic findings including intermittent ataxia, choreoathetosis, dystonia, and alternating hemiplegia. The classic phenotype is characterized by infantile-onset seizures, delayed neurologic development, acquired microcephaly, and complex movement disorders. Seizures in classic early-onset Glut1 DS begin before age six months. Several seizure types occur: generalized tonic or clonic, focal, myoclonic, atypical absence, atonic, and unclassified. In some infants, apneic episodes and abnormal episodic eye-head movements similar to opsoclonus may precede the onset of seizures. The frequency, severity, and type of seizures vary among affected individuals and are not related to disease severity. Cognitive impairment, ranging from learning disabilities to severe intellectual disability, is typical. The complex movement disorder, characterized by ataxia, dystonia, and chorea, may occur in any combination and may be continuous, paroxysmal, or continual with fluctuations in severity influenced by environmental factors such as fasting or with infectious stress. Symptoms often improve substantially when a ketogenic diet is started.|GeneReviews|N|
C1832859|Tibia absent - polydactyly - arachnoid cyst syndrome is a very rare constellation of multiple anomalies, including absence or hypoplasia of the tibia.|ORDO|N|
C1832884|Familial hemiplegic migraine (FHM) falls within the category of migraine with aura. In migraine with aura (including FHM) the neurologic symptoms of aura are unequivocally localizable to the cerebral cortex or brain stem and include visual disturbance (most common), sensory loss (e.g., numbness or paresthesias of the face or an extremity), and dysphasia (difficulty with speech). FHM must include motor involvement, such as hemiparesis (weakness of an extremity). Hemiparesis occurs with at least one other symptom during FHM aura. Neurologic deficits with FHM attacks can be prolonged for hours to days and may outlast the associated migrainous headache. FHM is often earlier in onset than typical migraine, frequently beginning in the first or second decade; the frequency of attacks tends to decrease with age. Approximately 40%-50% of families with CACNA1A-FHM have cerebellar signs ranging from nystagmus to progressive, usually late-onset mild ataxia.|GeneReviews|N|
C1832903|A migraine disorder characterized by an aura that includes motor weakness and the absence of family history.|NCI|N|
C1832916|The first identified CACNA1C-related disorder, referred to as Timothy syndrome, consists of the combination of prolonged QT interval, autism, and cardiovascular malformation with syndactyly of the fingers and toes. Infrequent findings also include developmental and speech delay, seizures, and recurrent infections. With increased availability of molecular genetic testing, a wider spectrum of pathogenic variants and clinical findings associated with CACNA1C-related disorders has been recognized. Because CACNA1C is associated with calcium channel function, all individuals with a pathogenic variant in this gene are at risk for cardiac arrhythmia of a specific type. The clinical manifestations of a CACNA1C-related disorder include three phenotypes: Timothy syndrome with or without syndactyly. QT prolongation (QTc >480 ms) and arrhythmias in the absence of other syndromic features. Short QT syndrome (QTc <350 ms) or Brugada syndrome with short QT interval. These three phenotypes can be separated into two broad categories on the basis of the functional consequences of the pathogenic variants in CACNA1C: QT prolongation with or without a Timothy syndrome-associated phenotype associated with pathogenic variants inducing a gain of function at the cellular level (i.e., increased calcium current). Short QT interval with or without Brugada syndrome EKG pattern associated with pathogenic variants causing loss of function (i.e., reduced calcium current).|GeneReviews|N|
C1832918|Brody disease (BROD) is an autosomal recessive skeletal muscle disorder characterized by exercise-induced muscle stiffness and cramps primarily affecting the arms, legs, and eyelids, although more generalized muscle involvement may also occur. Symptom onset is most often in the first decade, but many patients present and are diagnosed later in life. Skeletal muscle biopsy typically shows variation in fiber size, increased internal nuclei, and atrophy of type II muscle fibers. Rare patients have been reported to develop malignant hyperthermia after administration of anesthesia, suggesting that patients with the disorder should be tested. The disorder results from defective relaxation of fast-twitch (type II) skeletal muscle fibers due to defects in calcium homeostasis and reuptake in the muscle fiber (summary by Odermatt et al., 2000 and Molenaar et al., 2020).|OMIM|N|
C1832931|Arrhythmogenic right ventricular cardiomyopathy (ARVC) – previously referred to as arrhythmogenic right ventricular dysplasia (ARVD) – is characterized by progressive fibrofatty replacement of the myocardium that predisposes to ventricular tachycardia and sudden death in young individuals and athletes. It primarily affects the right ventricle, and it may also involve the left ventricle. The presentation of disease is highly variable even within families, and some affected individuals may not meet established clinical criteria. The mean age at diagnosis is 31 years (±13; range: 4-64 years).|GeneReviews|N|
C1832932|Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the GSDME gene.|MONDO|N|
C1832942|Hereditary hemorrhagic telangiectasia (HHT) is characterized by the presence of multiple arteriovenous malformations (AVMs) that lack intervening capillaries and result in direct connections between arteries and veins. The most common clinical manifestation is spontaneous and recurrent nosebleeds (epistaxis) beginning on average at age 12 years. Telangiectases (small AVMs) are characteristically found on the lips, tongue, buccal and gastrointestinal (GI) mucosa, face, and fingers. The appearance of telangiectases is generally later than epistaxis but may be during childhood. Large AVMs occur most often in the lungs, liver, or brain; complications from bleeding or shunting may be sudden and catastrophic. A minority of individuals with HHT have GI bleeding, which is rarely seen before age 50 years.|GeneReviews|N|
C1832949|Infundibulopelvic stenosis-multicystic kidney syndrome is a rare, genetic renal malformation syndrome characterized by variable degrees of malformation in the pelvicalyceal system (including unilateral or bilateral calyceal dilatation, infundibular stenosis, hypoplasia or stenosis of the renal pelvis) which lead to multicystic kidney. Clinically it exhibits abdominal, lumbar or flank pain, recurrent urinary tract infections, hypertension, proteinuria and often progresses to renal insufficiency. Calyceal dilatation and hydronephrosis are frequently seen on imaging.|MONDO|N|
C1832976|Cone-rod dystrophy-5 (CORD5) is characterized by reduced visual acuity, photophobia, and defective color vision. Most patients experience onset of symptoms in early childhood, with progression to legal blindness by early adulthood, although some patients exhibit a milder phenotype, with onset in the fourth or fifth decade of life (Kohn et al., 2007; Reinis et al., 2013).
For a general phenotypic description and a discussion of genetic heterogeneity of cone-rod dystrophy, see 120970.|OMIM|N|
C1832977|Primary congenital glaucoma (PCG) is characterized by elevated intraocular pressure (IOP), enlargement of the globe (buphthalmos), edema, and opacification of the cornea with rupture of Descemet's membrane (Haab's striae), thinning of the anterior sclera and iris atrophy, anomalously deep anterior chamber, and structurally normal posterior segment except for progressive glaucomatous optic atrophy. Symptoms include photophobia, blepharospasm, and excessive tearing. Typically, the diagnosis is made in the first year of life. Depending on when treatment is instituted, visual acuity may be reduced and/or visual fields may be restricted. In untreated individuals, blindness invariably occurs.|GeneReviews|N|
C1832978|Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TMC1 gene.|MONDO|N|
C1832988|Bony outgrowths that extend laterally from the margin of the metaphysis.|HPO|N|
C1832992|Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TMIE gene.|MONDO|N|
C1832998|Autosomal dominant multiple epiphyseal dysplasia (MED) presents in early childhood, usually with pain in the hips and/or knees after exercise. Affected children complain of fatigue with long-distance walking. Waddling gait may be present. Adult height is either in the lower range of normal or mildly shortened. The limbs are relatively short in comparison to the trunk. Pain and joint deformity progress, resulting in early-onset osteoarthritis, particularly of the large weight-bearing joints.|GeneReviews|N|
C1833021|WFS1 Wolfram syndrome spectrum disorder (WFS1-WSSD) is a progressive neurodegenerative disorder characterized by onset of diabetes mellitus (DM) and optic atrophy (OA) before age 16 years, and typically associated with other endocrine abnormalities, sensorineural hearing loss, and progressive neurologic abnormalities (cerebellar ataxia, peripheral neuropathy, dementia, psychiatric illness, and urinary tract atony). Although DM is mostly insulin-dependent, overall the course is milder (with lower prevalence of microvascular disease) than that seen in isolated DM. OA typically results in significantly reduced visual acuity in the first decade. Sensorineural hearing impairment ranges from congenital deafness to milder, sometimes progressive, hearing impairment.|GeneReviews|N|
C1833030|Abnormal thickening of the skin on the palms and soles charactersized by hyperkeratosis of the stratum corneum with no evidence of epidermolysis characteristic of epidermolytic hyperkeratosis.|HPO|N|
C1833053|Proprotein convertase-1/3 deficiency is an autosomal recessive disorder characterized by neonatal severe generalized malabsorptive diarrhea and failure to thrive. As the disease progresses, additional endocrine abnormalities develop, including diabetes insipidus, growth hormone deficiency, primary hypogonadism, adrenal insufficiency, and hypothyroidism (summary by Wilschanski et al., 2014).|OMIM|N|
C1833054|Abnormally low level of cortisol in the blood.|NCI|N|
C1833104|Permanent neonatal diabetes mellitus (PNDM) is characterized by the onset of hyperglycemia within the first six months of life (mean age: 7 weeks; range: birth to 26 weeks). The diabetes mellitus is associated with partial or complete insulin deficiency. Clinical manifestations at the time of diagnosis include intrauterine growth retardation, hyperglycemia, glycosuria, osmotic polyuria, severe dehydration, and failure to thrive. Therapy with insulin corrects the hyperglycemia and results in dramatic catch-up growth. The course of PNDM varies by genotype.|GeneReviews|N|
C1833118|A kind of congenital cataract that is characterized by a hollow sphere of punctate opacities involving the fetal nucleus and that usually occurs bilaterally.|HPO|N|
C1833136|Van den Ende-Gupta syndrome (VDEGS) is an autosomal recessive disorder characterized by severe contractual arachnodactyly from birth and distinctive facial dysmorphism, including triangular face, malar hypoplasia, narrow nose, everted lips, and blepharophimosis. Skeletal anomalies include slender ribs, hooked clavicles, and dislocated radial head. There is no neurologic involvement (summary by Patel et al., 2014).|OMIM|N|
C1833142|A limitation in the passive range of motion of the elbow resulting from loss of elasticity in the periarticular tissues owing to structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules or skin.|HPO|N|
C1833144|Reduced diameter of a long bone.|HPO|N|
C1833145|Underdevelopment of the distal portion of the ulna.|HPO|N|
C1833148|Length of the thumb is greater than normal.|HPO|N|
C1833168|A tooth with a crown with marked lingual or palatal marginal ridges causing scooped lingual or palatal surfaces.|HPO|N|
C1833172|Delay in cutaneous immune reaction to specific antigens mediated not by antibodies but by cells. The delayed hypersensitivity test is an immune function test measuring the presence of activated T cells that recognize a specific antigen and is performed by injecting a small amount of the antigen into the skin. The area of the injection is examined 48-72 hours thereafter.|HPO|N|
C1833173|Absence of the fingerlike protrusive, actin-dependent structures found on the surface of peripheral blood lymphocytes.|HPO|N|
C1833213|Hyperferritinemia-cataract syndrome is a disorder characterized by an excess of an iron storage protein called ferritin in the blood (hyperferritinemia) and tissues of the body. A buildup of this protein begins early in life, leading to clouding of the lenses of the eyes (cataracts). In affected individuals, cataracts usually develop in infancy, rather than after age 60 as typically occurs in the general population.  Cataracts that are not removed surgically cause progressive dimming and blurriness of vision because the clouded lenses reduce and distort incoming light.\n\nAlthough the hyperferritinemia in this disorder does not usually cause any health problems other than cataracts, the elevated ferritin levels in the blood can be mistaken for a sign of certain liver disorders. These conditions result in excess iron in the body and may be treated by blood-drawing. However, individuals with hyperferritinemia-cataract syndrome do not have an excess of iron, and with repeated blood draws will develop reduced iron levels leading to a low number of red blood cells (anemia). Therefore, correct diagnosis of hyperferritinemia-cataract syndrome is important to avoid unnecessary treatments or invasive test procedures such as liver biopsies.|MedlinePlus Genetics|N|
C1833218|An inherited susceptibility or predisposition to developing type 1 diabetes mellituss that has material basis in mutation of the locus at chromosome 6q25-q27.|MONDO|N|
C1833219|A severe form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. Onset in the second or third decade has manifestations of ulceration and infection of the feet. Symmetric and distal weakness develops mostly in the legs together with a severe symmetric distal sensory loss. Tendon reflexes are only reduced at ankles and foot deformities including pes cavus or planus and hammer toes, appear in childhood.|SNOMEDCT_US|N|
C1833222|Auto-amputation is the spontaneous detachment of an appendage from the body due to long standing pathology.|HPO|N|
C1833225|Toenail changes apart from changes of the color of the toenail (nail dyschromia) that involve partial or complete disruption of the various keratinous layers of the nail plate.|HPO|N|
C1833229|Mutations in the CRYBA1 gene have been found to cause multiple types of cataract, which have been described as congenital zonular with sutural opacities, congenital nuclear progressive, and progressive lamellar.
The preferred title/symbol of this entry was formerly 'Cataract, Congenital Zonular, with Sutural Opacities; CCZS.'|OMIM|N|
C1833236|Mutations in the PRKAG2 gene (602743) give rise to a moderate, essentially heart-specific, nonlysosomal glycogenosis with clinical onset typically in late adolescence or in the third decade of life, ventricular pre-excitation predisposing to supraventricular arrhythmias, mild to severe cardiac hypertrophy, enhanced risk of sudden cardiac death in midlife, and autosomal dominant inheritance with full penetrance (summary by Burwinkel et al., 2005).|OMIM|N|
C1833245|Retinitis pigmentosa-17 (RP17) is characterized by relatively mild disease, with decreased visual acuity, visual field constriction, nyctalopia, and slow progression. Many affected individuals have preserved central vision and acuity until the sixth or seventh decades of life (de Bruijn et al., 2020).
For a phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000.|OMIM|N|
C1833247|A schizophrenia that has material basis in an autosomal dominant mutation of PRODH on chromosome 22q11.21.|MONDO|N|
C1833268|Nocturnal enuresis where the child has been dry for at least 6 months but enuresis has recurred.|MONDO|N|
C1833275|JAK3-deficient severe combined immunodeficiency (SCID) is an inherited disorder of the immune system. Individuals with JAK3-deficient SCID lack the necessary immune cells to fight off certain bacteria, viruses, and fungi. They are prone to repeated and persistent infections that can be very serious or life-threatening. Often the organisms that cause infection in people with JAK3-deficient SCID are described as opportunistic because they ordinarily do not cause illness in healthy people. Affected infants typically develop chronic diarrhea, a fungal infection in the mouth called oral thrush, pneumonia, and skin rashes. Persistent illness also causes affected individuals to grow more slowly than other children. Without treatment, people with JAK3-deficient SCID usually live only into early childhood.|MedlinePlus Genetics|N|
C1833296|CHMP2B frontotemporal dementia (CHMP2B-FTD) has been described in a single family from Denmark, in one individual with familial FTD from Belgium, and in one individual with FTD and no family history. It typically starts between ages 46 and 65 years with subtle personality changes and slowly progressive behavioral changes, dysexecutive syndrome, dyscalculia, and language disturbances. Disinhibition or loss of initiative is the most common presenting symptom. The disease progresses over a few years into profound dementia with extrapyramidal symptoms and mutism. Several individuals have developed an asymmetric akinetic rigid syndrome with arm and gait dystonia and pyramidal signs that may be related to treatment with neuroleptic drugs. Symptoms and disease course are highly variable. Disease duration may be as short as three years or longer than 20 years.|GeneReviews|N|
C1833297|Primitive reflexes traditionally held to be a sign of disorders that affect the frontal lobes.|HPO|N|
C1833308|Autosomal dominant distal hereditary motor neuronopathy-5 (HMND5), also known as distal hereditary motor neuronopathy type VA (dHMN5A or HMN5A), is a neuromuscular disorder characterized by onset of distal muscle weakness and atrophy predominantly affecting the upper limbs in the first few decades of life. The disorder is slowly progressive, and most patients eventually have lower limb involvement with foot deformities. Although sensory impairment is uncommon, some patients show this feature, illustrating the phenotypic overlap with CMT2D. Rare patients may have pyramidal signs or hyperreflexia (summary by Christodoulou et al., 1995 and Dubourg et al., 2006).
For a discussion of genetic heterogeneity of autosomal dominant distal HMN, see HMND1 (182960).|OMIM|N|
C1833319|An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 14q12.|MONDO|N|
C1833321|Progressive bifocal chorioretinal atrophy (PBCRA) is a rare, autosomal dominant congenital chorioretinal dystrophy. The disorder is characterized by progressive macular and nasal retinal atrophic lesions, nystagmus, myopia, and poor vision. Invariably, there are 2 distinct foci of atrophy, a temporal focus that is present at birth and a nasal focus that appears early in life. Retinal detachment is an additional complication of the disease (Douglas et al., 1968; Kelsell et al., 1995).|OMIM|N|
C1833325|Abnormal thinning of the cortical region of bones.|HPO|N|
C1833326|A generalized decrease in bone mineral density.|HPO|N|
C1833328|Increased size of epiphyses.|HPO|N|
C1833329|A morphological abnormality of epiphyses whereby they are abnormally outwardly curving (protuberant).|HPO|N|
C1833339|A very rare multiple congenital anomaly syndrome with characteristics of anophthalmia or severe microphthalmia, cleft lip/palate, facial cleft and sacral neural tube defects, along with various additional anomalies including congenital glaucoma, iris coloboma, primary hyperplastic vitreous, hypertelorism, low-set ears, clinodactyly, choanal atresia/stenosis, dysgenesis of sacrum, tethering of spinal cord, syringomyelia, hypoplasia of corpus callosum, cerebral ventriculomegaly and endocrine abnormalities. An autosomal recessive inheritance has been suggested.|SNOMEDCT_US|N|
C1833340|Craniosynostosis (CRS) is a primary abnormality of skull growth involving premature fusion of the cranial sutures such that the growth velocity of the skull often cannot match that of the developing brain. This produces skull deformity and, in some cases, raises intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability (summary by Fitzpatrick, 2013). Craniosynostosis-4 (CRS4) includes lambdoid, sagittal, metopic, coronal, and multisuture forms.
For a discussion of genetic heterogeneity of craniosynostosis, see CRS1 (123100).|OMIM|N|
C1833362|Any abnormality of an individual's circadian rhythm that affects the timing of sleeping and being awake is referred to as a sleep-wake disorder.|HPO|N|
C1833372|Any familial hypocalciuric hypercalcemia in which the cause of the disease is a mutation in the AP2S1 gene.|MONDO|N|
C1833380|A very rare multiple congenital anomalies syndrome with short stature, facial dysmorphism (elongated face, hypertelorism, broad and high nasal bridge, mild epicanthus, posteriorly angulated ears, narrow and high-arched palate), skeletal anomalies (mesomelic brachymelia, short broad hands, prominent finger pads, short stubby thumbs, hyperextensibility of small joints, small feet), hypernasality and normal intelligence. Delayed bone age has also been reported.|SNOMEDCT_US|N|
C1833382|Maturity-onset diabetes of the young (MODY) is a group of several conditions characterized by abnormally high levels of blood glucose, also called blood sugar. These forms of diabetes typically begin before age 30, although they can occur later in life. In MODY, elevated blood glucose arises from reduced production of insulin, which is a hormone produced in the pancreas that helps regulate blood glucose levels. Specifically, insulin controls how much glucose (a type of sugar) is passed from the blood into cells, where it is used as an energy source.\n\nThe different types of MODY are distinguished by their genetic causes. The most common types are HNF1A-MODY (also known as MODY3), accounting for 50 to 70 percent of cases, and GCK-MODY (MODY2), accounting for 30 to 50 percent of cases. Less frequent types include HNF4A-MODY (MODY1) and renal cysts and diabetes (RCAD) syndrome (also known as HNF1B-MODY or MODY5), which each account for 5 to 10 percent of cases. At least ten other types have been identified, and these are very rare.\n\nHNF1A-MODY and HNF4A-MODY have similar signs and symptoms that develop slowly over time. Early signs and symptoms in these types are caused by high blood glucose and may include frequent urination (polyuria), excessive thirst (polydipsia), fatigue, blurred vision, weight loss, and recurrent skin infections. Over time uncontrolled high blood glucose can damage small blood vessels in the eyes and kidneys. Damage to the light-sensitive tissue at the back of the eye (the retina) causes a condition known as diabetic retinopathy that can lead to vision loss and eventual blindness. Kidney damage (diabetic nephropathy) can lead to kidney failure and end-stage renal disease (ESRD). While these two types of MODY are very similar, certain features are particular to each type. For example, babies with HNF4A-MODY tend to weigh more than average or have abnormally low blood glucose at birth, even though other signs of the condition do not occur until childhood or young adulthood. People with HNF1A-MODY have a higher-than-average risk of developing noncancerous (benign) liver tumors known as hepatocellular adenomas.\n\nGCK-MODY is a very mild type of the condition. People with this type have slightly elevated blood glucose levels, particularly in the morning before eating (fasting blood glucose). However, affected individuals often have no symptoms related to the disorder, and diabetes-related complications are extremely rare.\n\nRCAD is associated with a combination of diabetes and kidney or urinary tract abnormalities (unrelated to the elevated blood glucose), most commonly fluid-filled sacs (cysts) in the kidneys. However, the signs and symptoms are variable, even within families, and not everyone with RCAD has both features. Affected individuals may have other features unrelated to diabetes, such as abnormalities of the pancreas or liver or a form of arthritis called gout.|MedlinePlus Genetics|N|
C1833429|An increased concentration of 2-hydroxyglutaric acid in the urine.|HPO|N|
C1833431|Cerebral cysts, usually located in the wall of the caudate nucleus or in the caudothalamic groove. They are found in up to 5.2% of all neonates, using transfontanellar ultrasound in the first days of life.|HPO|N|
C1833453|A rare genetic neuromuscular disease with characteristics of late onset of mild, progressive proximal muscle weakness, severe myalgia during and after exercise, and susceptibility to rhabdomyolysis. Intellectual disability is mild or absent. There are no abnormalities of the skin. Muscle biopsy shows focal depletion of mitochondria especially at the centre of muscle fibres, surrounded by enlarged mitochondria at the periphery.|SNOMEDCT_US|N|
C1833454|Satoyoshi syndrome is a rare disorder characterized by progressive, painful, intermittent muscle spasms, diarrhea or unusual malabsorption, endocrinopathy with amenorrhea, and secondary skeletal abnormalities. The disorder is also called komuragaeri disease by the Japanese; in Japanese 'komura' means calf and 'gaeri' means 'turnover' or spasm. All cases have apparently been sporadic, even when occurring in large families (Ehlayel and Lacassie, 1995).|OMIM|N|
C1833473|An ectodermal inclusion cyst containing skin and skin appendages; sebaceous glands, hair follicles, and occasionally sweat glands.|HPO|N|
C1833477|Lynch syndrome-5 (LYNCH5), or hereditary nonpolyposis colorectal cancer type 5 (HNPCC5), is a cancer predisposition syndrome characterized by onset of colorectal cancer and/or extracolonic cancers, particularly endometrial cancer, usually in mid-adulthood. The disorder shows autosomal dominant inheritance with incomplete penetrance (summary by Castellsague et al., 2015).
For a general phenotypic description and a discussion of genetic heterogeneity of Lynch syndrome, see 120435.|OMIM|N|
C1833486|Microtia-anotia (M-A) can occur either as an isolated defect or in association with other defects. Only in a minority of cases has a genetic or environmental cause been found; in these cases, M-A is usually part of a specific pattern of multiple congenital anomalies. For instance, M-A is an essential component of isotretinoin embryopathy (243440), is an important manifestation of thalidomide embryopathy, and can be part of the prenatal alcohol syndrome and maternal diabetes embryopathy. M-A occurs with a number of single gene disorders, such as Treacher Collins syndrome (154500), branchiootorenal/branchiootic syndromes (see 113650 and 602588), oculoauricular syndrome (612109), microtia with hearing impairment and cleft palate (612290), or chromosomal syndromes, such as trisomy 18. M-A also occurs as part of seemingly nonrandom patterns of multiple defects, such as Goldenhar syndrome (164210) (Mastroiacovo et al., 1995).
Alasti and Van Camp (2009) reviewed the genetics of microtia and microtia-associated syndromes and discussed their clinical aspects in relation to the causative genes. They stated that the estimated prevalence of microtia is 0.8 to 4.2 per 10,000 births, that it is more common in males, and that it can have a genetic or environmental predisposition.
Reviews
Ronde et al. (2023) reviewed the international classification and clinical management strategies for craniofacial microsomia and microtia (CFM; see 164210), and tabulated survey responses from 57 professionals involved in management of CFM patients. The authors noted that although the International Consortium for Health Outcomes Measurement (ICHOM) criteria for CFM exclude isolated microtia from the phenotypic spectrum of CFM, the question of whether isolated microtia can be considered the mildest form of CFM is debated in the literature. No consensus was reached in their survey, as a majority of respondents agreed with the ICHOM criteria but also considered isolated microtia to be a mild form of CFM.|OMIM|N|
C1833503|Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MYH14 gene.|MONDO|N|
C1833508|Carnitine palmitoyltransferase II (CPT II) deficiency is a disorder of long-chain fatty-acid oxidation. The three clinical presentations are lethal neonatal form, severe infantile hepatocardiomuscular form, and myopathic form (which is usually mild and can manifest from infancy to adulthood). While the former two are severe multisystemic diseases characterized by liver failure with hypoketotic hypoglycemia, cardiomyopathy, seizures, and early death, the latter is characterized by exercise-induced muscle pain and weakness, sometimes associated with myoglobinuria. The myopathic form of CPT II deficiency is the most common disorder of lipid metabolism affecting skeletal muscle and the most frequent cause of hereditary myoglobinuria. Males are more likely to be affected than females.|GeneReviews|N|
C1833511|Carnitine palmitoyltransferase II (CPT II) deficiency is a disorder of long-chain fatty-acid oxidation. The three clinical presentations are lethal neonatal form, severe infantile hepatocardiomuscular form, and myopathic form (which is usually mild and can manifest from infancy to adulthood). While the former two are severe multisystemic diseases characterized by liver failure with hypoketotic hypoglycemia, cardiomyopathy, seizures, and early death, the latter is characterized by exercise-induced muscle pain and weakness, sometimes associated with myoglobinuria. The myopathic form of CPT II deficiency is the most common disorder of lipid metabolism affecting skeletal muscle and the most frequent cause of hereditary myoglobinuria. Males are more likely to be affected than females.|GeneReviews|N|
C1833518|Carnitine palmitoyltransferase II (CPT II) deficiency is a disorder of long-chain fatty-acid oxidation. The three clinical presentations are lethal neonatal form, severe infantile hepatocardiomuscular form, and myopathic form (which is usually mild and can manifest from infancy to adulthood). While the former two are severe multisystemic diseases characterized by liver failure with hypoketotic hypoglycemia, cardiomyopathy, seizures, and early death, the latter is characterized by exercise-induced muscle pain and weakness, sometimes associated with myoglobinuria. The myopathic form of CPT II deficiency is the most common disorder of lipid metabolism affecting skeletal muscle and the most frequent cause of hereditary myoglobinuria. Males are more likely to be affected than females.|GeneReviews|N|
C1833561|A rare photodermatosis characterized by cutaneous photosensitivity and slight dyspigmentation, without an increased risk of developing skin tumors. Telangiectasia may also be observed, but no other clinical abnormalities. Patients present in infancy or childhood, mode of inheritance is autosomal recessive.|ORDO|N|
C1833564|Cone-rod dystrophy is a group of related eye disorders that causes vision loss, which becomes more severe over time. These disorders affect the retina, which is the layer of light-sensitive tissue at the back of the eye. In people with cone-rod dystrophy, vision loss occurs as the light-sensing cells of the retina gradually deteriorate.\n\nThere are more than 30 types of cone-rod dystrophy, which are distinguished by their genetic cause and their pattern of inheritance: autosomal recessive, autosomal dominant, and X-linked. Additionally, cone-rod dystrophy can occur alone without any other signs and symptoms or it can occur as part of a syndrome that affects multiple parts of the body.\n\nThe first signs and symptoms of cone-rod dystrophy, which often occur in childhood, are usually decreased sharpness of vision (visual acuity) and increased sensitivity to light (photophobia). These features are typically followed by impaired color vision (dyschromatopsia), blind spots (scotomas) in the center of the visual field, and partial side (peripheral) vision loss. Over time, affected individuals develop night blindness and a worsening of their peripheral vision, which can limit independent mobility. Decreasing visual acuity makes reading increasingly difficult and most affected individuals are legally blind by mid-adulthood. As the condition progresses, individuals may develop involuntary eye movements (nystagmus).|MedlinePlus Genetics|N|
C1833603|Spondyloepiphyseal dysplasia, Reardon type is an extremely rare type of spondyloepiphyseal dysplasia (see this term) described in several members of a single family to date and characterized by short stature, vertebral and femoral abnormalities, cervical instability and neurologic manifestations secondary to anomalies of the odontoid process.|ORDO|N|
C1833607|Syndrome that is characterized by communicating hydrocephalus, endocardial fibroelastosis and congenital cataracts. It has been described in two children, both of whom died a few months after birth (the first as a result of a respiratory infection and the second due to cardiac complications). The etiology of the syndrome is unknown but a viral or genetic origin has been proposed.|SNOMEDCT_US|N|
C1833661|SCN9A neuropathic pain syndromes (SCN9A-NPS) comprise SCN9A erythromelalgia (EM), SCN9A paroxysmal extreme pain disorder (PEPD), and SCN9A small fiber neuropathy (SFN). SCN9A-EM is characterized by recurrent episodes of bilateral intense, burning pain, and redness, warmth, and occasionally swelling. While the feet are more commonly affected than the hands, in severely affected individuals the legs, arms, face, and/or ears may be involved. SCN9A-PEPD is characterized by neonatal or infantile onset of autonomic manifestations that can include skin flushing, harlequin (patchy or asymmetric) color change, tonic non-epileptic attacks (stiffening), and syncope with bradycardia. Later manifestations are episodes of excruciating deep burning rectal, ocular, or submandibular pain accompanied by flushing (erythematous skin changes). SCN9A-SFN is characterized by adult-onset neuropathic pain in a stocking and glove distribution, often with a burning quality; autonomic manifestations such as dry eyes, mouth, orthostatic dizziness, palpitations, bowel or bladder disturbances; and preservation of large nerve fiber functions (normal strength, tendon reflexes, and vibration sense).|GeneReviews|N|
C1833662|Inclusion body myopathy associated with Paget disease of bone (PDB) and/or frontotemporal dementia (IBMPFD) is characterized by adult-onset proximal and distal muscle weakness (clinically resembling a limb-girdle muscular dystrophy syndrome), early-onset PDB, and premature frontotemporal dementia (FTD). Muscle weakness progresses to involve other limb and respiratory muscles. PDB involves focal areas of increased bone turnover that typically lead to spine and/or hip pain and localized enlargement and deformity of the long bones; pathologic fractures occur on occasion. Early stages of FTD are characterized by dysnomia, dyscalculia, comprehension deficits, and paraphasic errors, with minimal impairment of episodic memory; later stages are characterized by inability to speak, auditory comprehension deficits for even one-step commands, alexia, and agraphia. Mean age at diagnosis for muscle disease and PDB is 42 years; for FTD, 56 years. Dilated cardiomyopathy, amyotrophic lateral sclerosis, and Parkinson disease are now known to be part of the spectrum of findings associated with IBMPFD.|GeneReviews|N|
C1833667|An abnormally increased level of bone isoforms of alkaline phosphatase, tissue-nonspecific isozyme in the blood.|HPO|N|
C1833676|Pacman dysplasia has characteristics of epiphyseal stippling and osteoclastic overactivity. It has been described in less than 10 patients but may be underdiagnosed. The syndrome may be inherited as an autosomal recessive trait. In order to make a definitive diagnosis, lysosomal storage should be investigated by electron microscopy, or enzyme assays should be performed. Familial recurrence can be easily detected by prenatal ultrasonography. This skeletal dysplasia is lethal.|SNOMEDCT_US|N|
C1833683|Kleta (2006) reviewed aspects of renal stone disease. Nephrolithiasis and urolithiasis remain major public health problems of largely unknown cause. While disorders such as cystinuria (220100) and primary hyperoxaluria (see 259900) that have nephrolithiasis as a major feature have advanced understanding of the metabolic and physiologic processes of stone formation in general, they have not addressed the etiology of calcium oxalate stone formation, responsible for approximately 75% of urolithiasis cases in humans. Men are affected twice as often as women, but children show no such gender bias. The recurrence rate is also high. In populations of European ancestry, 5 to 10% of adults experience the painful precipitation of calcium oxalate in their urinary tracts.
Thorleifsson et al. (2009) noted that between 35 and 65% of hypercalciuric stone formers and up to 70% of subjects with hypercalciuria have relatives with nephrolithiasis, and twin studies have estimated the heritability of kidney stones to be 56%.
Genetic Heterogeneity of Calcium Oxalate Nephrolithiasis
See also CAON2 (620374), caused by mutation in the OXGR1 gene (606922) on chromosome 13q32.|OMIM|N|
C1833691|A rare genetic developmental defect during embryogenesis with characteristics of distinct facial features (long triangular face, broad forehead, narrow nose and mandible, high arched palate), prominent, dysmorphic ears (low-set and cup-shaped with large conchae and hypoplastic tragus, antitragus and lobe), long neck, preauricular and/or branchial fistulas and/or cysts, hypoplastic cervical muscles with sloping shoulders and clavicles, winged, low, and laterally-set scapulae, hearing impairment and mild intellectual deficit. Vertebral defects and short stature may also be associated.|SNOMEDCT_US|N|
C1833693|Otodental syndrome is an autosomal dominant condition characterized by grossly enlarged canine and molar teeth (globodontia), associated with sensorineural hearing loss. Ocular coloboma segregating with otodental syndrome has been reported (summary by Gregory-Evans et al., 2007).|OMIM|N|
C1833698|An exceedingly rare autosomal dominant disorder reported in only a few patients to date with characteristics of dacryocystitis due to lacrimal canal stenosis and osteopoikilosis (demonstrated radiologically as discrete spherical osteosclerotic lesions of 2-10 mm in diameter).|SNOMEDCT_US|N|
C1833699|A rare primary bone dysplasia with characteristics of multiple small round to ovoid osteosclerotic foci with a predilection for the epiphyses and metaphyses of long tubular bones as well as the pelvis, scapula, carpal and tarsal bones. The condition is usually clinically silent and discovered only incidentally although some patients may experience mild articular pain with or without joint effusion. Bone strength is normal.|SNOMEDCT_US|N|
C1833734|Osteolysis affecting carpal bones.|HPO|N|
C1833735|An increased resorption of bone matrix by osteoclasts leading to bony defects involving the tarsal bones.|HPO|N|
C1833736|Gnathodiaphyseal dysplasia (GDD) is an autosomal dominant generalized skeletal syndrome characterized by cementoosseous lesions of the jawbones, in conjunction with bone fragility, bowing/cortical thickening of tubular bones, and diaphyseal sclerosis of long bones (summary by Marconi et al., 2013).|OMIM|N|
C1833739|An elevation in bone density of the cortex of one or more diaphyses. Sclerosis is normally detected on a radiograph as an area of increased opacity.|HPO|N|
C1833746|A groove or crease on the shins (pretibial, i.e., over the shin bone). Pretibial creases may be obvious at birth and may range from 3 cm to over 15 cm in length and lengthen as the limb grows. They appear as an elongated dimple because of the attachment of skin to underlying tissue (e.g., to the tibia). The dimple or crease grows in proportion to the growth of the leg.|HPO|N|
C1833748|An osteogenesis imperfecta found in a single South African family.|MONDO|N|
C1833754|Congenital onset bending or abnormal curvature of the femur that normalizes with age.|HPO|N|
C1833762|Abnormal reduction in ossification of the calvaria (roof of the skull consisting of the frontal bone, parietal bones, temporal bones, and occipital bone).|HPO|N|
C1833792|Syndrome characterized by the association of osteosarcoma, limb anomalies (clinodactyly with brachymesophalangia, bilateral radioulnar synostosis and absence of one digital ray of the foot) and red cell macrocytosis without anemia. It has been described in three out of nine children from one family.|SNOMEDCT_US|N|
C1833795|Syndromic orbital border hypoplasia is a rare disorder observed in two families to date and characterized by agenesis of the orbital margin, varying defects of the lacrimal passages, hypoplasia of the palpebral skin and tarsal plates and atresia of the nasolacrimal duct.|ORDO|N|
C1833796|Syndrome with characteristics of facial (telecanthus, flat nasal bridge, retrognathia), oral (cleft palate, vestibular frenula) and digital (oligodactyly, preaxial polydactyly) features, associated with remarkable radial shortening, fibular agenesis and coalescence of tarsal bones. The syndrome has been described in one 10-month-old girl. No new cases have been described since 1993.|SNOMEDCT_US|N|
C1833797|A rare genetic optic nerve disorder characterized by visual impairment or blindness resulting from varying degrees of underdevelopment of the optic nerve or even complete absence of the optic nerve, ganglion cells, and central retinal vessels. It may be unilateral, typically with otherwise normal brain development, or bilateral with accompanying severe and widespread congenital malformations of the central nervous system.|ORDO|N|
C1833809|Autosomal dominant optic atrophy and cataract is an eye disorder that is characterized by impaired vision. Most affected individuals have decreased sharpness of vision (visual acuity) from birth, while others begin to experience vision problems in early childhood or later. In affected individuals, both eyes are usually affected equally. However, the severity of the vision loss varies widely, even among affected members of the same family, ranging from nearly normal vision to complete blindness.\n\nSeveral abnormalities contribute to impaired vision in people with autosomal dominant optic atrophy and cataract. In the early stages of the condition, affected individuals experience a progressive loss of certain cells within the retina, which is a specialized light-sensitive tissue that lines the back of the eye. The loss of these cells (known as retinal ganglion cells) is followed by the degeneration (atrophy) of the nerves that relay visual information from the eyes to the brain (optic nerves), which contributes to vision loss. Atrophy of these nerves causes an abnormally pale appearance (pallor) of the optic nerves, which can be seen only during an eye examination. Most people with this disorder also have clouding of the lenses of the eyes (cataracts). This eye abnormality can develop anytime but typically appears in childhood. Other common eye problems in autosomal dominant optic atrophy and cataract include involuntary movements of the eyes (nystagmus), or problems with color vision (color vision deficiency) that make it difficult or impossible to distinguish between shades of blue and green.\n\nSome people with autosomal dominant optic atrophy and cataract develop disturbances in the function of other nerves (neuropathy) besides the optic nerves. These disturbances can lead to problems with balance and coordination (cerebellar ataxia), an unsteady style of walking (gait), prickling or tingling sensations (paresthesias) in the arms and legs, progressive muscle stiffness (spasticity), or rhythmic shaking (tremors). In some cases, affected individuals have hearing loss caused by abnormalities of the inner ear (sensorineural deafness).|MedlinePlus Genetics|N|
C1833835|Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by congenital, external, nuclear ophthalmoplegia, lingua scrotalis, progressive chorioretinal sclerosis and intellectual disability. Bilateral ptosis, bilateral facial weakness, Parinaud's syndrome, convergence paresis and myopia may be associated. There have been no further descriptions in the literature since 1975.|ORDO|N|
C1833872|Complete blindness due to corneal opacities, difficult mastication due to temporomandibular fusion and anomalies of the arms. Micrognathia, shortening and bowing of the forearm, ulnar deviation and bowed radius, short fibula, genu valgum and coxa vara have been reported. Intelligence is normal. The causative gene has not yet been identified. Autosomal dominant inheritance has been suggested.|SNOMEDCT_US|N|
C1833909|Hereditary distal onycholysis is an autosomal dominant nail disorder characterized by a decreased rate of growth of the nail, scleronychia, and a straight or concave proximal edge of detachment. Clinical features may include palmoplantar hyperhydrosis and marked sensitivity of the fingers to cold (summary by Bazex et al., 1990). Hereditary distal onycholysis is referred to here as nonsyndromic congenital nail disorder-5 (NDNC5).
For a list of other nonsyndromic congenital nail disorders and a discussion of genetic heterogeneity, see NDNC1 (161050).|OMIM|N|
C1833921|Multiple endocrine neoplasia type 2 (MEN2) includes the following phenotypes: MEN2A, FMTC (familial medullary thyroid carcinoma, which may be a variant of MEN2A), and MEN2B. All three phenotypes involve high risk for development of medullary carcinoma of the thyroid (MTC); MEN2A and MEN2B involve an increased risk for pheochromocytoma; MEN2A involves an increased risk for parathyroid adenoma or hyperplasia. Additional features in MEN2B include mucosal neuromas of the lips and tongue, distinctive facies with enlarged lips, ganglioneuromatosis of the gastrointestinal tract, and a marfanoid habitus. MTC typically occurs in early childhood in MEN2B, early adulthood in MEN2A, and middle age in FMTC.|GeneReviews|N|
C1834013|Odontoma-dysphagia syndrome is a malformation syndrome, with characteristics of odontomas and severe dysphagia. Less than ten cases have been reported so far. Three of the reported patients manifested multiple odontomas. Occasionally, cardiac, renal and hepatic involvement has been described. In several cases, autosomal dominant inheritance has been suspected. Currently, there are no genes associated with this condition.|SNOMEDCT_US|N|
C1834014|A rare genetic neuromuscular disease with characteristics of progressive external ocular, facial and pharyngeal muscle weakness, leading to variable degrees of ptosis, ophthalmoparesis, facial muscle atrophy, dysarthria and dysphagia, as well as distal muscle weakness and atrophy of lower and upper extremities. Respiratory muscle involvement is common, but sensorineural hearing loss, asymmetrical extremity weakness and severe proximal weakness are rare.|SNOMEDCT_US|N|
C1834015|A progressive form of ptosis.|HPO|N|
C1834032|Congenital fusion (ankylosis) of the interphalangeal joint of the thumb.|HPO|N|
C1834034|Absence or underdevelopment (hypoplasia) of the middle phalanx of the little (5th) finger.|HPO|N|
C1834038|Schilbach-Rott syndrome (SBRS) is an autosomal dominant disorder characterized by hypotelorism, epicanthal folds, cleft palate, dysmorphic facies, and hypospadias in males. The phenotype is variable; mild mental retardation has been reported (summary by Shkalim et al., 2009).|OMIM|N|
C1834042|Underdevelopment of one or more muscles innervated by the facial nerve (the seventh cranial nerve).|HPO|N|
C1834055|Thinned, deficient, or excessively arched ala nasi.|HPO|N|
C1834057|Excessive growth of the bones of the vertebral bodies.|HPO|N|
C1834060|Hypoplastic/small middle phalanx of the fifth finger.|HPO|N|
C1834062|Syndactyly with fusion of toes three and four.|HPO|N|
C1834079|Classic congenital or infantile nystagmus presents as conjugate, horizontal oscillations of the eyes, in primary or eccentric gaze, often with a preferred head turn or tilt. Other associated features may include mildly decreased visual acuity, strabismus, astigmatism, and occasionally head nodding. Eye movement recordings reveal that infantile nystagmus is predominantly a horizontal jerk waveform, with a diagnostic accelerating velocity slow phase. However, pendular and triangular waveforms may also be present. The nystagmus may rarely be vertical. As these patients often have normal visual acuity, it is presumed that the nystagmus represents a primary defect in the parts of the brain responsible for ocular motor control; thus the disorder has sometimes been termed 'congenital motor nystagmus' (Tarpey et al., 2006; Shiels et al., 2007).
For a discussion of genetic heterogeneity of congenital nystagmus, see NYS1 (310700).|OMIM|N|
C1834124|A broad chest.|HPO|N|
C1834129|An abnormality of one or more of the vertebrae.|HPO|N|
C1834144|Sick sinus syndrome (also known as sinus node dysfunction) is a group of related heart conditions that can affect how the heart beats. "Sick sinus" refers to the sino-atrial (SA) node, which is an area of specialized cells in the heart that functions as a natural pacemaker. The SA node generates electrical impulses that start each heartbeat. These signals travel from the SA node to the rest of the heart, signaling the heart (cardiac) muscle to contract and pump blood. In people with sick sinus syndrome, the SA node does not function normally. In some cases, it does not produce the right signals to trigger a regular heartbeat. In others, abnormalities disrupt the electrical impulses and prevent them from reaching the rest of the heart.\n\nSick sinus syndrome occurs most commonly in older adults, although it can be diagnosed in people of any age. The condition increases the risk of several life-threatening problems involving the heart and blood vessels. These include a heart rhythm abnormality called atrial fibrillation, heart failure, cardiac arrest, and stroke.\n\nSick sinus syndrome tends to cause the heartbeat to be too slow (bradycardia), although occasionally the heartbeat is too fast (tachycardia). In some cases, the heartbeat rapidly switches from being too fast to being too slow, a condition known as tachycardia-bradycardia syndrome. Symptoms related to abnormal heartbeats can include dizziness, light-headedness, fainting (syncope), a sensation of fluttering or pounding in the chest (palpitations), and confusion or memory problems. During exercise, many affected individuals experience chest pain, difficulty breathing, or excessive tiredness (fatigue). Once symptoms of sick sinus syndrome appear, they usually worsen with time. However, some people with the condition never experience any related health problems.|MedlinePlus Genetics|N|
C1834155|Resistant hypertension is defined as above-goal elevated blood pressure in a patient despite the concurrent use of 3 antihypertensive drug classes, commonly including a long-acting calcium channel blocker, a blocker of the renin-angiotensin system (angiotensin-converting enzyme inhibitor or angiotensin receptor blocker), and a diuretic.|HPO|N|
C1834207|Neuronal ceroid lipofuscinosis-4 (CLN4) is an autosomal dominant neurodegenerative disorder characterized by onset of symptoms in adulthood. It belongs to a group of progressive neurodegenerative diseases characterized by accumulation of intracellular autofluorescent lipopigment storage material in the brain and other tissues. Several different forms have been described according to age of onset (see, e.g., CLN3, 204200). Individuals with the adult form, sometimes referred to as Kufs disease, develop psychiatric manifestations, seizures, cerebellar ataxia, and cognitive decline. Retinal degeneration is usually not present (summary by Benitez et al., 2011 and Velinov et al., 2012).
For a general phenotypic description and a discussion of genetic heterogeneity of CLN, see CLN1 (256730).|OMIM|N|
C1834235|Spinal neurofibromatosis is an autosomal dominant disorder characterized by a high load of spinal tumors. These tumors may be asymptomatic or result in neurologic symptoms, including back pain, difficulty walking, and paresthesias. Spinal NF is considered to be a subtype of neurofibromatosis type I (NF1; 162200), which is an allelic disorder. Patients with spinal NF may or may not have the classic cutaneous cafe-au-lait pigmentary macules or ocular Lisch nodules typically observed in patients with classic NF1. Patients with spinal NF should be followed closely for spinal sequelae (summary by Burkitt Wright et al., 2013).|OMIM|N|
C1834236|Multiple neurofibromas of the spinal nerve roots with a symmetric distribution.|HPO|N|
C1834297|The presence in the inguinal region (groin) of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin.|HPO|N|
C1834304|Hereditary neuralgic amyotrophy (HNA) is an autosomal dominant form of recurrent focal neuropathy characterized clinically by acute, recurrent episodes of brachial plexus neuropathy with muscle weakness and atrophy preceded by severe pain in the affected arm.|OMIM|N|
C1834320|Increased superior-inferior length of the nasal bridge, which is the saddle-shaped area that includes the nasal root and the lateral aspects of the nose.|HPO|N|
C1834329|Any retinitis pigmentosa in which the cause of the disease is a mutation in the NRL gene.|MONDO|N|
C1834340|Mitochondrial DNA (mtDNA)-associated Leigh syndrome and NARP (neurogenic muscle weakness, ataxia, and retinitis pigmentosa) are part of a continuum of progressive neurodegenerative disorders caused by abnormalities of mitochondrial energy generation. Leigh syndrome (or subacute necrotizing encephalomyelopathy) is characterized by onset of symptoms typically between ages three and 12 months, often following a viral infection. Decompensation (often with elevated lactate levels in blood and/or CSF) during an intercurrent illness is typically associated with psychomotor retardation or regression. Neurologic features include hypotonia, spasticity, movement disorders (including chorea), cerebellar ataxia, and peripheral neuropathy. Extraneurologic manifestations may include hypertrophic cardiomyopathy. About 50% of affected individuals die by age three years, most often as a result of respiratory or cardiac failure. NARP is characterized by proximal neurogenic muscle weakness with sensory neuropathy, ataxia, and pigmentary retinopathy. Onset of symptoms, particularly ataxia and learning difficulties, is often in early childhood. Individuals with NARP can be relatively stable for many years, but may suffer episodic deterioration, often in association with viral illnesses.|GeneReviews|N|
C1834341|Hypertrophy of the stomach.|HPO|N|
C1834345|Thickening of the periosteum of long bone.|HPO|N|
C1834372|Adie (1926) first delineated narcolepsy as a separate and specific entity. It is a sleep disorder characterized by attacks of disabling daytime drowsiness and low alertness. The normal physiologic components of rapid eye movement (REM) sleep, dreaming and loss of muscle tone, are separated and also occur while the subject is awake, resulting in half-sleep dreams and episodes of skeletal muscle paralysis and atonia (cataplexy and sleep paralysis). Unlike normal sleep, that of narcolepsy often begins with REM activity and the time taken to fall asleep is shorter than normal.
In contrast to animal models, human narcolepsy is not a simple genetic disorder. Most human cases of narcolepsy are sporadic and carry a specific HLA haplotype (Peyron et al., 2000). Familial cases are the exception rather than the rule, and monozygotic twins show only partial concordance (25 to 31%) (Mignot, 1998).
Genetic Heterogeneity of Narcolepsy
Additional narcolepsy loci have been mapped to chromosomes 4 (NRCLP2; 605841), 21q (NRCLP3; 609039), 22q13 (NRCLP4; 612417), 14q11 (NRCLP5; 612851), and 19p13.2 (NRCLP6; 614223). NRCLP7 (614250) is caused by mutation in the MOG gene (159465) on chromosome 6p22. Resistance to narcolepsy is associated with minor alleles of a SNP and a marker in the NLC1A gene (610259) on chromosome 21q22.|OMIM|N|
C1834384|Underdevelopment of the glenoid fossa, which is the cavity in the lateral part of the scapula which articulates with the head of the humerus.|HPO|N|
C1834387|Abnormal pigmentation of the iris.|HPO|N|
C1834405|The presence of developmental dysplasia of the nail.|HPO|N|
C1834418|Cylindrical spirals myopathy is a rare form of congenital myopathy characterized by global muscle weakness, hypotonia, myotonia and cramps in the presence of cylindrical, spiral-shaped inclusions (located in the central and/or subsacrolemmal areas of muscle fibers) in skeletal muscle biopsy. Abnormal gait, scoliosis, epileptic encephalopathy and psychomotor delay may be associated.|ORDO|N|
C1834433|The presence of one or more obsessive-compulsive personality traits. Obsessions refer to persistent intrusive thoughts, and compulsions to intrusive behaviors, which the affected person experiences as involuntary, senseless, or repugnant.|HPO|N|
C1834460|Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYL2 gene.|MONDO|N|
C1834481|Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the MYH7 gene.|MONDO|N|
C1834523|Rare multiple congenital contracture syndrome characterised by contractures of distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate.|SNOMEDCT_US|N|
C1834531|Myopia, or nearsightedness, is a refractive error of the eye. Light rays from a distant object are focused in front of the retina and those from a near object are focused in the retina; therefore distant objects are blurry and near objects are clear (summary by Kaiser et al., 2004).
Genetic Heterogeneity of Susceptibility to Myopia
MYP2 maps to chromosome 18p. Other myopia loci include MYP1 (310460) on Xq28; MYP3 (603221) on 12q21-q23; MYP5 (608474) on 17q21-q22; MYP6 (608908), caused by mutation in the SCO2 gene (602474) on 22q13; MYP7 (609256) on 11p13; MYP8 (609257) on 3q26; MYP9 (609258) on 4q12; MYP10 (609259) on 8p23; MYP11 (609994) on 4q22-q27; MYP12 (609995) on 2q37.1; MYP13 (300613) on Xq23-q27; MYP14 (610320) on 1p36; MYP15 (612717) on 10q21.1; MYP16 (612554) on 5p15.33-p15.2; MYP17 (formerly MYP4) (608367) on 7p15; MYP18 (255500) on chromosome 14q22-q24; MYP19 (613969) on 5p15.1-p13.3; MYP20 (614166) on 13q12.12; MYP21 (614167), caused by mutation in the ZNF644 gene (614159) on 1p22; MYP22 (615420), caused by mutation in the CCDC111 gene (615421) on 4q35; MYP23 (615431), caused by mutation in the LRPAP1 gene (104225) on 4p16; MYP24 (615946), caused by mutation in the SLC39A5 gene (608730) on 12q13; MYP25 (617238), caused by mutation in the P4HA2 gene (600608) on 5q31; MYP26 (301010), caused by mutation in the ARR3 gene (301770) on Xq13; MYP27 (618827), caused by mutation in the CPSF1 gene (606027) on 8q24; and MYP28 (619781), caused by mutation in the LOXL3 gene (607163) on 2p13.|OMIM|N|
C1834559|A rare non-dystrophic myopathy characterized by generalized myokymia and increased muscle tone associated with delayed motor milestones, leg stiffness, spastic gait, hyperreflexia and Babinski sign. Symptoms may be worsened by febrile illness or anesthesia.|SNOMEDCT_US|N|
C1834567|A rare metabolic myopathy with characteristics of episodic myalgia with myoglobinuria which is induced by fever, viral or bacterial infection, prolonged exercise or alcohol abuse, and could, on occasion, lead to acute renal failure. Between episodes, patients may be asymptomatic or could present elevated creatine kinase levels and mild muscle weakness. There have been no further descriptions in the literature since 1997.|SNOMEDCT_US|N|
C1834569|The spectrum of ASAH1-related disorders ranges from Farber disease (FD) to spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME). Classic FD is characterized by onset in the first weeks of life of painful, progressive deformity of the major joints; palpable subcutaneous nodules of joints and mechanical pressure points; and a hoarse cry resulting from granulomas of the larynx and epiglottis. Life expectancy is usually less than two years. In the other less common types of FD, onset, severity, and primary manifestations vary. SMA-PME is characterized by early-childhood-onset progressive lower motor neuron disease manifest typically between ages three and seven years as proximal lower-extremity weakness, followed by progressive myoclonic and atonic seizures, tremulousness/tremor, and sensorineural hearing loss. Myoclonic epilepsy typically begins in late childhood after the onset of weakness and can include jerking of the upper limbs, action myoclonus, myoclonic status, and eyelid myoclonus. Other findings include generalized tremor, and cognitive decline. The time from disease onset to death from respiratory complications is usually five to 15 years.|GeneReviews|N|
C1834570|SGCE myoclonus-dystonia (SGCE-M-D) is a movement disorder characterized by a combination of rapid, brief muscle contractions (myoclonus) and/or sustained twisting and repetitive movements that result in abnormal postures (dystonia). The myoclonic jerks typical of SGCE-M-D most often affect the neck, trunk, and upper limbs with less common involvement of the legs. Approximately 50% of affected individuals have additional focal or segmental dystonia, presenting as cervical dystonia and/or writer's cramp. Non-motor features may include alcohol abuse, obsessive-compulsive disorder (OCD), and anxiety disorders. Symptom onset is usually in the first decade of life and almost always by age 20 years, but ranges from age six months to 80 years. Most affected adults report a dramatic reduction in myoclonus in response to alcohol ingestion. SGCE-M-D is compatible with an active life of normal span.|GeneReviews|N|
C1834579|This syndrome is characterised by the association of myoclonus, cerebellar ataxia and sensorineural hearing loss.|ORDO|N|
C1834582|A unique clonal neoplastic disorder that is linked to trisomy 21, is restricted to neonatal period, and spontaneously regresses. It often has characteristics of megakaryocytic lineage and is associated with GATA1 mutations in myeloblasts.|HPO|N|
C1834634|The term 'mydriasis' is used in at least two senses: a state of dilatation of the pupils (see 159420) and the process by which the pupils become dilated, as in response to a pharmacologic agent. Goldsmith et al. (1977) used the term in the latter sense in connection with their study of pupillary response to mydriatics in Chile.
Hyperreactive mydriasis to atropine is a feature of Down syndrome (Harris and Goodman, 1968).|OMIM|N|
C1834650|Perfect pitch, or absolute pitch (AP), is defined as the ability immediately and effortlessly to name a note or collection of notes when they are sounded. Often, persons with perfect pitch possess a memory capacity whereby they can remember the pitch of a note and the configuration of a group or series of notes after a significant interval of time has elapsed. These recognitive and memory talents involve a potential capacity for performing these functions together with a practice factor which is necessary for the maintenance of the skills at the highest level (summary by Profita and Bidder, 1988). Absolute pitch likely results from a combination of environmental and genetic factors (Theusch et al., 2009).|OMIM|N|
C1834671|Facioscapulohumeral muscular dystrophy (FSHD) typically presents with weakness of the facial muscles, the stabilizers of the scapula, or the dorsiflexors of the foot. Severity is highly variable. Weakness is slowly progressive and approximately 20% of affected individuals eventually require a wheelchair. Life expectancy is not shortened.|GeneReviews|N|
C1834674|Bethlem myopathy-1 (BTHLM1) is a congenital muscular dystrophy characterized by distal joint laxity and a combination of distal and proximal joint contractures. Weakness usually begins in mid-childhood or adolescence, but progression is slow and ambulation is retained into adulthood (summary by Butterfield et al., 2013).
Genetic Heterogeneity of Bethlem Myopathy
See Bethlem myopathy-1B (BTHLM1B; 620725), caused by mutation in the COL6A2 gene (120240) on chromosome 21q22; Bethlem myopathy-1C (620726), caused by mutation the COL6A3 gene (120250) on chromosome 2q37; and Bethlem myopathy-2 (BTHLM2; 616471), caused by mutation in the COL12A1 gene (120320) on chromosome 6q13-q14.|OMIM|N|
C1834690|Spinal muscular atrophy (SMA) is a hereditary neuromuscular disorder characterized by degeneration of spinal cord motor neurons resulting in muscle weakness. SMALED shows autosomal dominant inheritance with muscle weakness predominantly affecting the proximal lower extremities (Harms et al., 2010).
The most common form of SMA (see, e.g., SMA1, 253300) shows autosomal recessive inheritance and is due to mutation in the SMN1 gene (600354) on chromosome 5q.
Genetic Heterogeneity of Lower Extremity-Predominant Spinal Muscular Atrophy
See also SMALED2A (615290) and SMALED2B (618291), both of which are caused by mutation in the BICD2 gene (609797) on chromosome 9q22. SMALED2A and SMALED2B differ in age at onset and severity, with SMALED2B being more severe.|OMIM|N|
C1834692|Distal hereditary motor neuropathy, type II is a progressive disorder that affects nerve cells in the spinal cord. It results in muscle weakness and affects movement, primarily in the legs.\n\nOnset of distal hereditary motor neuropathy, type II ranges from the teenage years through mid-adulthood. The initial symptoms of the disorder are cramps or weakness in the muscles of the big toe and later, the entire foot. Over a period of approximately 5 to 10 years, affected individuals experience a gradual loss of muscle tissue (atrophy) in the lower legs. They begin to have trouble walking and running, and eventually may have complete paralysis of the lower legs. The thigh muscles may also be affected, although generally this occurs later and is less severe.\n\nSome individuals with distal hereditary motor neuropathy, type II have weakening of the muscles in the hands and forearms. This weakening is less pronounced than in the lower limbs and does not usually result in paralysis.|MedlinePlus Genetics|N|
C1834696|Reduced intensity of muscle tendon reflexes in the lower limbs. Reflexes are elicited by stretching the tendon of a muscle, e.g., by tapping.|HPO|N|
C1834703|Autosomal dominant distal hereditary motor neuronopathy-7 (HMND7) is a neurologic disorder characterized by onset in the second decade of progressive distal muscle wasting and weakness affecting the upper and lower limbs and resulting in walking difficulties and hand grip. There is significant muscle atrophy of the hands and lower limbs. The disorder is associated with vocal cord paresis due to involvement of the tenth cranial nerve (summary by Barwick et al., 2012).
For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant distal HMN, see HMND1 (182960).|OMIM|N|
C1834720|Slightly pigmented smooth or warty papules that are flesh coloured and found on the upper surface of hands and feet.|SNOMEDCT_US|N|
C1834728|The presence of a malignant neoplasm of the genital system.|HPO|N|
C1834737|A soft tissue continuity in the anteroposterior axis between adjacent foot digits that involves at least half of the proximodistal length of one of the two involved digits; or, a soft tissue continuity in the A/P axis between two digits of the foot that does not meet the prior objective criteria.|HPO|N|
C1834741|Chromosomal mosaicism as described here refers to a tendency to chromosomal nondisjunction. See also premature chromatid separation (PCS; 176430), which may also predispose to chromosomal nondisjunction.|OMIM|N|
C1834752|Mycobacterium tuberculosis latently infects approximately one-third of humanity and is comparable only to human immunodeficiency virus (HIV; see 609423) as a leading infectious cause of mortality worldwide. Obstacles for controlling TB infection include lengthy treatment regimens of 6 to 9 months, drug resistance, lack of a highly efficacious vaccine, and incomplete understanding of the factors that control infectivity and disease progression. Although only 10% of individuals infected with M. tuberculosis develop active disease, the immune responses associated with TB susceptibility or resistance are not known. In addition, it is not known why some individuals have disseminated TB that spreads to the meninges and central nervous system, while most people have localized disease in the lungs. A number of studies suggest that host genetic factors influence susceptibility and resistance to TB (review by Berrington and Hawn, 2007).|OMIM|N|
C1834759|A very rare genetic overgrowth/obesity syndrome with characteristics of macrocephaly, obesity, mental (intellectual) disability and ocular abnormalities. Other frequent clinical signs include macrosomia, downslanting palpebral fissures, hypertelorism, broad nasal root, high and broad forehead and delay in bone maturation, in association with normal thyroid function and karyotype.|SNOMEDCT_US|N|
C1834819|Mitral valve prolapse (MVP) has a prevalence of approximately 2 to 3% in the general population. It is characterized by fibromyxomatous changes in mitral leaflet tissue, with upward displacement of 1 or both leaflets into the left atrium during systole; MVP is diagnosed when the movement of the mitral leaflets exceeds 2 mm. In classic MVP, leaflets are at least 5 mm thick, whereas in nonclassic MVP, they are less than 5 mm thick. Auscultatory findings, when present, consist of a midsystolic click and/or a late systolic murmur. The natural history of MVP varies from benign, with a normal life expectancy, to severe complications associated with the development of significant mitral regurgitation, including congestive heart failure, bacterial endocarditis, atrial fibrillation, thromboembolism, and even sudden death. However, complications are uncommon, affecting less than 3% of individuals with MVP (Freed et al., 1999; Grau et al., 2007; Delling and Vasan, 2014).
Grau et al. (2007) provided a detailed review of the genetics of mitral valve prolapse. Delling and Vasan (2014) reviewed the epidemiology and pathophysiology of MVP, with discussion of disease progression, genetics, and molecular basis.
Genetic Heterogeneity of Familial Mitral Valve Prolapse
The locus for MVP1 has been mapped to chromosome 16p; the locus for MVP2 (607829) has been mapped to chromosome 11p.
Mitral valve prolapse-3 (MVP3; 610840) is caused by mutation in the DZIP1 gene (608671) on chromosome 13q32.|OMIM|N|
C1834821|The cartilage-hair hypoplasia – anauxetic dysplasia (CHH-AD) spectrum disorders are a continuum that includes the following phenotypes: Metaphyseal dysplasia without hypotrichosis (MDWH). Cartilage-hair hypoplasia (CHH). Anauxetic dysplasia (AD). CHH-AD spectrum disorders are characterized by severe disproportionate (short-limb) short stature that is usually recognized in the newborn, and occasionally prenatally because of the short extremities. Other findings include joint hypermobility, fine silky hair, immunodeficiency, anemia, increased risk for malignancy, gastrointestinal dysfunction, and impaired spermatogenesis. The most severe phenotype, AD, has the most pronounced skeletal phenotype, may be associated with atlantoaxial subluxation in the newborn, and may include cognitive deficiency. The clinical manifestations of the CHH-AD spectrum disorders are variable, even within the same family.|GeneReviews|N|
C1834846|POLG-related disorders comprise a continuum of overlapping phenotypes that were clinically defined long before their molecular basis was known. Most affected individuals have some, but not all, of the features of a given phenotype; nonetheless, the following nomenclature can assist the clinician in diagnosis and management. Onset of the POLG-related disorders ranges from infancy to late adulthood. Alpers-Huttenlocher syndrome (AHS), one of the most severe phenotypes, is characterized by childhood-onset progressive and ultimately severe encephalopathy with intractable epilepsy and hepatic failure. Childhood myocerebrohepatopathy spectrum (MCHS) presents between the first few months of life and about age three years with developmental delay or dementia, lactic acidosis, and a myopathy with failure to thrive. Other findings can include liver failure, renal tubular acidosis, pancreatitis, cyclic vomiting, and hearing loss. Myoclonic epilepsy myopathy sensory ataxia (MEMSA) now describes the spectrum of disorders with epilepsy, myopathy, and ataxia without ophthalmoplegia. MEMSA now includes the disorders previously described as spinocerebellar ataxia with epilepsy (SCAE). The ataxia neuropathy spectrum (ANS) includes the phenotypes previously referred to as mitochondrial recessive ataxia syndrome (MIRAS) and sensory ataxia neuropathy dysarthria and ophthalmoplegia (SANDO). About 90% of persons in the ANS have ataxia and neuropathy as core features. Approximately two thirds develop seizures and almost one half develop ophthalmoplegia; clinical myopathy is rare. Autosomal recessive progressive external ophthalmoplegia (arPEO) is characterized by progressive weakness of the extraocular eye muscles resulting in ptosis and ophthalmoparesis (or paresis of the extraocular muscles) without associated systemic involvement; however, caution is advised because many individuals with apparently isolated arPEO at the onset develop other manifestations of POLG-related disorders over years or decades. Of note, in the ANS spectrum the neuropathy commonly precedes the onset of PEO by years to decades. Autosomal dominant progressive external ophthalmoplegia (adPEO) typically includes a generalized myopathy and often variable degrees of sensorineural hearing loss, axonal neuropathy, ataxia, depression, parkinsonism, hypogonadism, and cataracts (in what has been called "chronic progressive external ophthalmoplegia plus," or "CPEO+").|GeneReviews|N|
C1834870|The disorder of congenital mirror movements (CMM) is characterized by early-onset, obvious mirror movements (involuntary movements of one side of the body that mirror intentional movements on the opposite side) in individuals who typically have no other clinical signs or symptoms. Although mirror movements vary in severity, most affected individuals have strong and sustained mirror movements of a lesser amplitude than the corresponding voluntary movements. Mirror movements usually persist throughout life, without deterioration or improvement, and are not usually associated with subsequent onset of additional neurologic manifestations. However, a subset of affected individuals with a heterozygous pathogenic variant in DCC may have CMM with abnormalities of the corpus callosum and concomitant cognitive and/or neuropsychiatric issues.|GeneReviews|N|
C1834877|A rare disorder characterized by the partial separation of the cerebral hemispheres. It is associated with mutations in the SIX3 gene.|NCI|N|
C1834880|Microspherophakia - metaphyseal dysplasia is a very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects.|ORDO|N|
C1834929|A rare multiple congenital anomalies syndrome characterized by congenital microgastria and a uni- or bilateral limb reduction defect, that can include absent or hypoplastic thumbs, radius, ulna and/or amelia. Association with other variable abnormalities, including intestinal malrotation, asplenia, dysplastic kidneys, hypoplastic lungs, dysplastic corpus collosum, and abnormal genitalia, has been reported.|ORDO|N|
C1834930|A developmental defect characterized by fusion of the left and right halves of the thalamus.|HPO|N|
C1834934|Truncus arteriosus (single great artery leaving the base of the heart, giving rise to the coronary, pulmonary, and systemic arteries) with a short pulmonary trunk arises from the truncus arteriosus, giving rise to both pulmonary arteries.|HPO|N|
C1834935|A rare developmental defect during embryogenesis syndrome characterized by the association of microcornea, glaucoma and frontal sinus hypoplasia. Thick palmar skin and torus palatinus have also been reported. There have been no further descriptions in the literature since 1995.|ORDO|N|
C1834954|Frontal schisis (cleft or cleavage) of vertebral bodies.|HPO|N|
C1834980|Metaphyseal cupping affecting the proximal phalanges.|HPO|N|
C1834995|A closed sac that has developed in the lower jaw bone (mandibula) and contains fluid or semi-solid material.|HPO|N|
C1835008|Increased cytoplasmic staining of fibroblasts with toluidine blue.|HPO|N|
C1835009|Kantaputra mesomelic dysplasia (MMDK) is a rare, autosomal dominant skeletal disease characterized by symmetric marked shortening of the upper and lower limbs. The ulnae are very short and the radii are bowed. The distal humerus has a dumbbell shape, whereas the hands are relatively normal but show progressive flexion contractures of the proximal interphalangeal joints. Carpal and tarsal synostoses are observed in some individuals. In the lower limbs, the feet are fixed in plantar flexion with the sole facing backward, causing 'ballerina-like standing.' The prominent distal fibula on the ventral aspect is considered to be the signature finding of the syndrome. The calcaneus is small or missing, and a small fibula and talus as well as fibulocalcaneal synostosis are characteristic features. The tibial bony knot articulates with the proximal end of the fibula (summary by Kantaputra et al., 2010).
See 613681 for discussion of the chromosome 2q31.1 duplication syndrome, which shows cytogenetic and phenotypic overlap with MMDK.|OMIM|N|
C1835030|Delayed membranous cranial ossification is a rare, genetic primary bone dysplasia characterized by absent ossification of calvarial bones at birth and characteristic facial dysmorphisms (frontal bossing, hypertelorism, downward-slanting palpebral fissures, proptosis, flat nasal bridge, low-set ears, midface retrusion). Patients present a soft skull at birth which, over time, progressively ossifies and in adulthood typically results in a deformed skull (with brachycephaly and prominent occiput). No other skeletal abnormalities are associated and patients have normal cognitive and motor development.|ORDO|N|
C1835042|An extremely rare tumor association characterized by dual predisposition to melanoma and neural system tumors (typically astrocytoma). Fewer than 20 affected families have been reported to date. Affected individuals had cutaneous melanoma in association with dysplastic nevi, astrocytoma, benign or malignant peripheral nerve sheath tumor, neurofibroma, medulloblastoma, glioblastoma multiforme, ependymoma, glioma, and meningioma. In some cases, melanoma was described first followed by nervous system tumors, and in other cases, melanoma was a secondary cancer. The etiology of this tumor association is unknown. Genetic mutations or germline deletions are thought to underlie this cancer susceptibility syndrome.|SNOMEDCT_US|N|
C1835044|Malignant melanoma is a neoplasm of pigment-producing cells called melanocytes that occurs most often in the skin, but may also occur in the eyes, ears, gastrointestinal tract, leptomeninges, and oral and genital mucous membranes (summary by Habif, 2010).
For a discussion of genetic heterogeneity of cutaneous malignant melanoma, see CMM1 (155600).|OMIM|N|
C1835047|Malignant melanoma is a neoplasm of pigment-producing cells called melanocytes that occurs most often in the skin, but may also occur in the eyes, ears, gastrointestinal tract, leptomeninges, and oral and genital mucous membranes (summary by Habif, 2010).
Genetic Heterogeneity of Susceptibility to Cutaneous Malignant Melanoma
The locus for susceptibility to familial cutaneous malignant melanoma-1 (CMM1) has been mapped to chromosome 1p36. Other CMM susceptibility loci include CMM2 (155601), caused by variation in the CDKN2A gene (600160) on chromosome 9p21; CMM3 (609048), caused by variation in the CDK4 gene (123829) on chromosome 12q14; CMM4 (608035), mapped to chromosome 1p22; CMM5 (613099), caused by variation in the MC1R gene (155555) on chromosome 16q24; CMM6 (613972), caused by variation in the XRCC3 gene (600675) on chromosome 14q32; CMM7 (612263), mapped to chromosome 20q11; CMM8 (614456), caused by variation in the MITF gene (156845) on chromosome 3p13; CMM9 (615134), caused by variation in the TERT gene (187270) on chromosome 5p15; and CMM10 (615848), caused by mutation in the POT1 gene (606478) on chromosome 7q31.
Somatic mutations causing malignant melanoma have also been identified in several genes, including BRAF (164757), STK11 (602216), PTEN (601728), TRRAP (603015), DCC (120470), GRIN2A (138253), ZNF831, BAP1 (603089), and RASA2 (601589). A large percentage of melanomas (40-60%) carry an activating somatic mutation in the BRAF gene, most often V600E (164757.0001) (Davies et al., 2002; Pollock et al., 2003).|OMIM|N|
C1835087|Pai syndrome is characterized by mild hypertelorism, midline cleft lip, nasal and facial polyps, pericallosal lipoma, ocular anomalies, and normal neuropsychologic development (Guion-Almeida et al., 2007).|OMIM|N|
C1835088|Maxillofacial dysostosis is a rare disorder characterized by maxillary hypoplasia, delayed onset of speech, and poor development of language skills without associated hearing loss. Occasional findings are downslanting palpebral fissures and minor auricle abnormalities (summary by Escobar et al., 1977).|OMIM|N|
C1835095|Increased size of the maxillary central secondary incisor tooth.|HPO|N|
C1835117|Abnormal largeness of the eye with an axial length > 2.5 standard deviations from population mean.|HPO|N|
C1835122|Thoracic lordosis refers to an abnormal curvature of the thoracic spine in which the thoracic spine displays lordosis (inward curve) instead of the normal kyphosis (outward curve).|HPO|N|
C1835130|Mitral annular calcification (MAC) results from progressive calcium deposition along and beneath the mitral valve annulus.|HPO|N|
C1835171|Autosomal dominant renal hypomagnesium wasting (HOMG2) is characterized by hypomagnesemia due to renal magnesium loss and is associated with hypocalciuria. Patients may have convulsions and muscle cramps, but they may also be asymptomatic except for the development of chondrocalcinosis at an adult age (summary by Knoers, 2009 and de Baaij et al., 2015).
For a discussion of genetic heterogeneity of renal hypomagnesemia, see 602014.|OMIM|N|
C1835172|A neurocutaneous syndrome with characteristics of congenital hypomelanotic and hypermelanotic cutaneous macules. It has been described in individuals spanning three generations of an Indian family. Some of the patients also had retarded growth and intellectual deficit.|SNOMEDCT_US|N|
C1835192|Waldenstrom macroglobulinemia (WM) is a malignant B-cell neoplasm characterized by lymphoplasmacytic infiltration of the bone marrow and hypersecretion of monoclonal immunoglobulin M (IgM) protein (review by Vijay and Gertz, 2007). The importance of genetic factors is suggested by the observation of familial clustering of WM (McMaster, 2003). Whereas WM is rare, an asymptomatic elevation of monoclonal IgM protein, termed 'IgM monoclonal gammopathy of undetermined significance' (IgM MGUS) is more common. Patients with IgM MGUS can progress to develop WM, at the rate of 1.5% to 2% per year (Kyle et al., 2003).
Genetic Heterogeneity of Waldenstrom Macroglobulinemia
A locus for susceptibility to Waldenstrom macroglobulinemia (WM2; 610430) has been mapped to chromosome 4q.|OMIM|N|
C1835194|Increased vertical dimension of the corpus callosum. This feature can be visualized by sagittal sections on magnetic resonance tomography imaging of the brain.|HPO|N|
C1835223|Psoriasis (177900) is a chronic inflammatory skin disease that may have an autoimmune basis. The disorder has a strong but complex genetic basis, with a concordance rate of 50 to 70% among monozygotic twins. Psoriatic arthritis affects more than 10% of patients with psoriasis and, in most cases, there is an association between the severity of the arthritis and the skin involvement (Gudjonsson et al., 2002).|OMIM|N|
C1835228|Localized fluid retention and tissue swelling caused by a compromised lymphatic system, affecting mainly the legs.|HPO|N|
C1835238|Nails whose growth is slower than normal.|HPO|N|
C1835255|Upturned concavity of toenails.|HPO|N|
C1835265|Microcephaly with or without chorioretinopathy, lymphedema, or impaired intellectual development (MCLMR) is an autosomal dominant disorder that involves an overlapping but variable spectrum of central nervous system and ocular developmental anomalies. Microcephaly ranges from mild to severe and is often associated with mild to moderate developmental delay and a characteristic facial phenotype with upslanting palpebral fissures, broad nose with rounded tip, long philtrum with thin upper lip, prominent chin, and prominent ears. Chorioretinopathy is the most common eye abnormality, but retinal folds, microphthalmia, and myopic and hypermetropic astigmatism have also been reported, and some individuals have no overt ocular phenotype. Congenital lymphedema, when present, is typically confined to the dorsa of the feet, and lymphoscintigraphy reveals the absence of radioactive isotope uptake from the webspaces between the toes (summary by Ostergaard et al., 2012). Robitaille et al. (2014) found that MCLMR includes a broader spectrum of ocular disease, including retinal detachment with avascularity of the peripheral retina, and noted phenotypic overlap with familial exudative vitreoretinopathy (FEVR; see EVR1, 133780).
Birtel et al. (2017) observed intrafamilial and intraindividual variability in retinal phenotype, and noted that syndromic manifestations in some patients are too subtle to be detected during a routine ophthalmologic evaluation. Variable expressivity and reduced penetrance have also been observed in some families (Jones et al., 2014; Li et al., 2016).
Autosomal recessive forms of microcephaly with chorioretinopathy have been reported (see 251270).
See also Mirhosseini-Holmes-Walton syndrome (autosomal recessive microcephaly with pigmentary retinopathy and impaired intellectual development; 268050), which has been mapped to chromosome 8q21.3-q22.1.|OMIM|N|
C1835272|Lymphedema-cerebral arteriovenous anomaly syndrome is characterised by the variable association of a cerebrovascular malformation, foot lymphoedema and primary pulmonary hypertension. It has been described in a woman and four of her children.|ORDO|N|
C1835384|Loss (reduction of previously present) of subcutaneous adipose tissue in the region of the trunk.|HPO|N|
C1835389|An abnormal increase in the amount of intramuscular fat tissue.|HPO|N|
C1835390|An abnormal increase in the amount of intraabdominal fat tissue.|HPO|N|
C1835396|A minor trait of the lip transmitted in an autosomal dominant fashion. It has been described through several generations from three families in Japan. In all cases the nodule was asymptomatic and strictly isolated.|SNOMEDCT_US|N|
C1835398|Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. The lifetime risk of cancer in individuals with LFS is =70% for men and =90% for women. Five cancer types account for the majority of LFS tumors: adrenocortical carcinomas, breast cancer, central nervous system tumors, osteosarcomas, and soft-tissue sarcomas. LFS is associated with an increased risk of several additional cancers including leukemia, lymphoma, gastrointestinal cancers, cancers of head and neck, kidney, larynx, lung, skin (e.g., melanoma), ovary, pancreas, prostate, testis, and thyroid. Individuals with LFS are at increased risk for cancer in childhood and young adulthood; survivors are at increased risk for multiple primary cancers.|GeneReviews|N|
C1835402|An instance of lichen planus that is caused by an inherited modification of the individual's genome.|MONDO|N|
C1835403|Oculomotor-levator synkinesis (OCLEVS) is characterized by abnormal eyelid elevation or retraction during ipsilateral adduction. The disorder most likely results from aberrant innervation of extraocular muscles by the oculomotor nerve (cranial nerve III). Normally, the levator muscle is served by the superior branch of CN3 and the medial rectus muscle is served by the inferior branch of CN3. The clinical features suggest synkinesis between the medial rectus and levator muscle branches. The disorder can be classified as a congenital cranial dysinnervation disorder (CCDD) and also shows features of congenital fibrosis of the extraocular muscles (CFEOM; see 135700) (summary by Pang et al., 1986 and Khan et al., 2004)
See also oculomotor-abducens synkinesis (OCABSN; 619215), caused by mutation in the ACKR3 gene (610376) on chromosome 2q37.|OMIM|N|
C1835407|HCV, which is principally transmitted by blood, infects about 3% of the world's population. HCV infection causes acute hepatitis, which is self-resolving in 20 to 50% of cases but does not confer permanent immunity. In 50 to 80% of cases, HCV infection becomes chronic and results in chronic hepatitis, cirrhosis, and hepatocellular carcinoma. As a result, HCV infection is a leading killer worldwide and the most common cause of liver failure in the U.S. HCV is opportunistic in individuals infected with human immunodeficiency virus (HIV; see 609423), approximately 25% of whom are coinfected with HCV. HCV infection is also associated with cryoglobulinemia (see 123550), a B-lymphocyte proliferative disorder (Pawlotsky, 2004; Chisari (2005); Pileri et al., 1998).|OMIM|N|
C1835437|The Torrance type of platyspondylic lethal skeletal dysplasia (PLSDT) is an autosomal dominant disorder characterized by varying platyspondyly, short ribs with anterior cupping, hypoplasia of the lower ilia with broad ischial and pubic bones, and shortening of the tubular bones with splayed and cupped metaphyses. Histology of the growth plate typically shows focal hypercellularity with slightly enlarged chondrocytes in the resting cartilage and relatively well-preserved columnar formation and ossification at the chondroosseous junction. Though generally lethal in the perinatal period, longer survival has been reported (summary by Zankl et al., 2005).|OMIM|N|
C1835450|Leri pleonosteosis is an autosomal dominant skeletal disorder characterized by flexion contractures of the interphalangeal joints, limited movement of multiple joints, and short, broad metacarpals, metatarsals, and phalanges. Additional features may include chronic joint pain, short stature, bony overgrowths, spinal cord compression, scleroderma-like skin changes, and blepharophimosis. The clinical features overlap with several other musculoskeletal conditions, including Myhre syndrome (MYHRS; 139210) and geleophysic dysplasia (GPHYSD1; 231050) (summary by Banka et al., 2015).|OMIM|N|
C1835470|Progressively increasing bone density of the skull base without significant changes in bony contour.|HPO|N|
C1835473|Tubulation refers to the size and shape of tubular bones. In children and adolescents, the modeling process regulates normal bone growth. Final shaft (tube) diameter depends on appositional bone growth and the equilibrium between periosteal and endosteal bone resorption and formation. Undertubulation refers to a broad, widened form of the shafts (diaphyses) of long bones.|HPO|N|
C1835492|Any tooth agenesis in which the cause of the disease is a mutation in the WNT10A gene.|MONDO|N|
C1835494|Congenital laryngeal (glottic) webs are uncommon, membrane-like structures that extend across the laryngeal lumen near the level of the vocal cords. They are thought to result from incomplete resorption of an epithelial layer that normally obliterates the developing laryngeal opening at about the sixth week of embryologic life. This layer is usually completely eliminated by the tenth week. Most laryngeal webs occur at the glottic level and affect the vocal cords. More than 90% are located anteriorly and extend toward the arytenoids. While affected persons may have onset of manifestations at any age, with hoarse or weak voice and frequent upper respiratory infections, they usually manifest the condition as infants, with respiratory distress, stridor, and an unusual cry (Strakowski et al., 1988; Singh et al., 2009).|OMIM|N|
C1835573|A delay in the process of formation and maturation of the epiphysis of one or more long bones.|HPO|N|
C1835574|A two-part calcaneus, a finding that probably results from delayed coalescence of two primary calcaneal centers of ossification.|HPO|N|
C1835579|Multiple circumscribed bony excrescences located in the ribs.|HPO|N|
C1835580|A mild degree of slow or limited growth after birth, being between two and three standard deviations below age- and sex-related norms.|HPO|N|
C1835583|Multiple exostoses originating in long bones.|HPO|N|
C1835602|Absence or underdevelopment of the lacrimal gland.|HPO|N|
C1835612|Congenital nasolacrimal drainage system impatency is relatively common, occurring in approximately 20% of children within the first year of life. Such infants typically manifest persistent epiphora and/or recurrent infections of the lacrimal pathway such as conjunctivitis. The most frequent site of such obstruction occurs at the distal intranasal segment of the nasolacrimal drainage system at the valve of Hasner (summary by Wang and Cunningham, 2011).
Congenital dacryocystocele, an uncommon variant of nasolacrimal duct obstruction, characterized by the appearance of a cystic blue mass over the area of the lacrimal duct soon after birth. Dacryocystoceles are thought to result from a persistent membrane at the valve of Hasner and a functional obstruction of the common canaliculus or valve of Rosenmuller. The resulting lacrimal sac distention has been reported to be more common in female and non-Hispanic white patients, and familial cases have been described only sporadically. Common presenting signs include dacryocystitis, facial cellulitis, and respiratory distress; the development of astigmatism in association with dacryocystocele has only rarely been observed (summary by Shekunov et al., 2010).|OMIM|N|
C1835614|A hereditary neurological disorder with characteristics of excessive startle responses. The disease manifests shortly after birth with violent jerking to noise and touch, and massive and sustained stiffening of the trunk and limbs, clenching fists, and attacks of a high frequency trembling. Motor milestones are often mildly delayed, but intellectual development is usually normal. Mutations in the GLRA1 gene (5q32) are found in about 30% of patients. These mutations are transmitted as an autosomal dominant or recessive trait. The GLRA1 gene encodes the alpha1 subunit of the juvenile neuronal receptor for the inhibitory neurotransmitter, glycine. Mutations of this subunit cause a variety of dysfunctions of the neuronal chloride (Cl-) channel. Mutations in the GLRB, GPHN and SLC6A5 genes (4q31.3, 14q24 and 11p15.2-p15.1) have also been observed.|SNOMEDCT_US|N|
C1835650|A very rare form of focal palmoplantar keratoderma with characteristics of painful circumscribed hyperkeratotic lesions on weight-bearing areas of soles, moderate focal hyperkeratosis of palmar pressure-related areas and an asymptomatic leukokeratosis confined to labial and lingual attached gingiva. Additional occasional features may include hyperhidrosis, follicular keratosis and extended oral mucosa involvement.|SNOMEDCT_US|N|
C1835654|Hyperkeratosis affecting the palm of the hand and the sole of the foot in areas exposed to friction.|HPO|N|
C1835662|A very rare hereditary skin disease with manifestation of irregularly distributed epidermal hyperkeratosis of the palms and soles. Reported in 35 families worldwide to date. The lesions usually start to develop in early adolescence but can also present later in life. Mutations in the AAGAB gene (15q22.33-q23) have recently been identified as one of the causes. Mutations in the COL14A1 gene (8q23) have also been identified as causal in some cases in Asia that seem to have a similar phenotype|SNOMEDCT_US|N|
C1835663|Keratosis palmaris et plantaris-clinodactyly syndrome is characterised by the association of palmoplantar keratosis with clinodactyly of the fifth finger. Less than 20 cases have been described in the literature so far, and the majority of reported patients were of Mexican origin. Transmission is autosomal dominant.|ORDO|N|
C1835664|Palmoplantar keratoderma (PPK) is a complex group of hereditary syndromes that have been classified into diffuse, punctate, and focal forms according to the pattern of hyperkeratosis on the palms and soles (Lucker et al., 1994).
For a discussion of phenotypic and genetic heterogeneity of palmoplantar keratoderma, see epidermolytic PPK (144200).|OMIM|N|
C1835671|A rare genetic autosomal dominant hereditary axonal motor and sensory neuropathy disorder with characteristics of childhood-onset palmoplantar keratoderma associated with motor and sensory polyneuropathy manifesting with late-onset, predominantly distal, lower limb muscle weakness and atrophy (later associating mild proximal weakness and upper limb involvement), moderate sensory impairment and normal or near normal nerve conduction velocities. Additional variable manifestations include impaired vibratory sensation, reduced tendon reflexes, pain, talipes equinovarus, pes cavus and nail dystrophy.|SNOMEDCT_US|N|
C1835672|Palmoplantar keratoderma with deafness is a disorder characterized by skin abnormalities and hearing loss. Affected individuals develop unusually thick skin on the palms of the hands and soles of the feet (palmoplantar keratoderma) beginning in childhood. Hearing loss ranges from mild to profound. It begins in early childhood and gets worse over time. Affected individuals have particular trouble hearing high-pitched sounds.\n\nThe signs and symptoms of this disorder may vary even within the same family, with some individuals developing only skin abnormalities and others developing only hearing loss.|MedlinePlus Genetics|N|
C1835677|Keratoconus, the most common corneal dystrophy, is a bilateral, noninflammatory progressive corneal ectasia. Clinically, the cornea becomes progressively thin and conical, resulting in myopia, irregular astigmatism, and corneal scarring. The disease usually arises in the teenage years, eventually stabilizing in the third and fourth decades. The incidence of keratoconus is 1 in 2,000 in the general population; it occurs with no ethnic or gender preponderance, and causes significant visual impairment in young adults. No specific treatment exists except to replace the corneal tissue by surgery (corneal transplantation) when visual acuity can no longer be corrected by contact lenses (summary by Dash et al., 2006).
Ihalainen (1986) reviewed various conditions with which keratoconus is at times associated. Keratoconus is frequent in cases of amaurosis congenita of Leber (204000).
Genetic Heterogeneity of Keratoconus
Also see KTCN2 (608932), mapped to 16q22.3-q23.1; KTCN3 (608586), mapped to 3p14-q13; KTCN4 (609271), mapped to 2p24; KTCN5 (614622), mapped to 5q14.1-q21.3; KTCN6 (614623), mapped to 9q34; KTCN7 (614629), mapped to 13q32; KTCN8 (614628), mapped to 14q24; and KTCN9 (617928), caused by mutation in the TUBA3D gene (617878) on 2q21.|OMIM|N|
C1835686|Increased susceptibility to bacterial infections of the skin, as manifested by recurrent episodes of infectious dermatitis.|HPO|N|
C1835697|Keratoendotheliitis fugax hereditaria (KEFH) is an autosomal dominant corneal disease that periodically and fleetingly affects the corneal endothelium, stroma, and vision, eventually resulting in central corneal stromal opacities in some patients. The disease is characterized by episodes of unilateral ocular pain, pericorneal injection, and photophobia. The acute symptoms vanish in 1 to 2 days, but vision remains blurry for several weeks. Onset occurs between ages 3 and 12 years, and may involve either eye. Episodes generally decrease in frequency and become more mild with age (summary by Turunen et al., 2018).|OMIM|N|
C1835698|Keratitis is a rare ocular disorder presenting with congenital and progressive features predominantly involving the anterior segment of the eye. The major clinical symptoms are anterior stromal corneal opacification and vascularization of the peripheral cornea. Progression of the opacification and vascularization into the central cornea may occur with corresponding reduction in visual acuity. Other anterior segment features include variable radial defects of the iris stroma and foveal hypoplasia (summary by Mirzayans et al., 1995).|OMIM|N|
C1835762|Increased distance between the maxillary central permanent incisor tooth.|HPO|N|
C1835764|A morphological abnormality of the vertebral arch, i.e., of the posterior part of a vertebra.|HPO|N|
C1835796|A developmental anomaly in which the kidneys are fused and localized on the same side of the midline. This anomaly is thought to result from disruption of the normal embryologic migration of the kidneys.|HPO|N|
C1835798|The presence of a fistula (abnormal tunnel) between the anal canal and the perineum.|HPO|N|
C1835807|A soft tissue prominence of the ventral aspects of the fingertips. The term "persistent fetal fingertip pads" is often used as a synonym, but should better not be used because it implies knowledge of history of the patient which often does not exist.|HPO|N|
C1835813|Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency is a very rare genetic skin disease characterized by severe skin laxity affecting the trunk and limbs.|ORDO|N|
C1835814|Patients with mitral valve prolapse-3 (MVP3) have nonsyndromic MVP of variable severity with an autosomal dominant pattern of inheritance.
For a general phenotypic description and discussion of genetic heterogeneity of mitral valve prolapse, see MVP1 (157700).|OMIM|N|
C1835817|Fanconi anemia (FA) is characterized by physical abnormalities, bone marrow failure, and increased risk for malignancy. Physical abnormalities, present in approximately 75% of affected individuals, include one or more of the following: short stature, abnormal skin pigmentation, skeletal malformations of the upper and/or lower limbs, microcephaly, and ophthalmic and genitourinary tract anomalies. Progressive bone marrow failure with pancytopenia typically presents in the first decade, often initially with thrombocytopenia or leukopenia. The incidence of acute myeloid leukemia is 13% by age 50 years. Solid tumors – particularly of the head and neck, skin, and genitourinary tract – are more common in individuals with FA.|GeneReviews|N|
C1835819|Holoprosencephaly-9 refers to a disorder characterized by a wide phenotypic spectrum of brain developmental defects, with or without overt forebrain cleavage abnormalities. It usually includes midline craniofacial anomalies involving the first branchial arch and/or orbits, pituitary hypoplasia with panhypopituitarism, and postaxial polydactyly. The disorder shows incomplete penetrance and variable expressivity (summary by Roessler et al., 2003 and Bertolacini et al., 2012).
For general phenotypic information and a discussion of genetic heterogeneity of holoprosencephaly, see HPE1 (236100).|OMIM|N|
C1835820|Holoprosencephaly (HPE) is the most commonly occurring congenital structural forebrain anomaly in humans. HPE is associated with mental retardation and craniofacial malformations. Considerable heterogeneity in the genetic causes of HPE has been demonstrated (Ming et al., 2002).
For general phenotypic information and a discussion of genetic heterogeneity of holoprosencephaly, see HPE1 (236100).|OMIM|N|
C1835826|Congenital anomalies of the kidney and urinary tract (CAKUT) comprise a broad spectrum of renal and urinary tract malformations. CAKUT structural anomalies range from complete renal agenesis (the most severe), to renal hypodysplasia, multicystic kidney dysplasia, duplex renal collecting system, ureteropelvic junction obstruction (UPJO), megaureter, posterior urethral valves (PUV), and vesicoureteral reflux (VUR). Renal abnormalities are observed in close relatives of up to 10% of CAKUT patients, although these are frequently asymptomatic. The phenotype often does not follow classic mendelian inheritance: family members with the same genetic defect may have variable phenotypes, ranging from severe renal insufficiency to asymptomatic anomalies. CAKUT occurs in about 1 in 500 live births, but are severe enough to cause neonatal death in about 1 in 2,000 births. In addition, CAKUT can occur in syndromic disorders in association with other congenital anomalies, such as papillorenal syndrome (120330) (summary by Renkema et al., 2011).
Genetic Heterogeneity of Congenital Anomalies of Kidney and Urinary Tract
Also see CAKUT2 (143400), caused by mutation in the TBX18 gene (604613) on chromosome 6q14, and CAKUT3 (618270), caused by mutation in the NRIP1 gene (602490) on chromosome 21q.|OMIM|N|
C1835829|Primary immunodeficiency syndrome due to p14 deficiency is characterised by short stature, hypopigmentation, coarse facies and frequent bronchopulmonary <i>Streptococcus pneumoniae</i> infections.|ORDO|N|
C1835845|Mitochondrial phosphate carrier deficiency (MPCD) is an autosomal recessive disorder characterized by onset of cardiorespiratory insufficiency soon after birth. Patients usually require intervention in the neonatal period. The disorder may result in death in infancy, although those that survive have stabilization or amelioration of symptoms with age. Most affected individuals have hypotonia, delayed motor development, and exercise intolerance, but cognitive development is normal. Laboratory studies typically show increased serum lactate, although this may not be present. Muscle biopsy shows abnormal mitochondria and lipid accumulation. There is phenotypic variability likely depending on the location of the mutation (summary by Bhoj et al., 2015).|OMIM|N|
C1835849|DOLK-congenital disorder of glycosylation (DOLK-CDG, formerly known as congenital disorder of glycosylation type Im) is an inherited condition that often affects the heart but can also involve other body systems. The pattern and severity of this disorder's signs and symptoms vary among affected individuals.\n\nIndividuals with DOLK-CDG typically develop signs and symptoms of the condition during infancy or early childhood. Nearly all individuals with DOLK-CDG develop a weakened and enlarged heart (dilated cardiomyopathy). Other frequent signs and symptoms include recurrent seizures; developmental delay; poor muscle tone (hypotonia); and dry, scaly skin (ichthyosis). Less commonly, affected individuals can have distinctive facial features, kidney disease, hormonal abnormalities, or eye problems.\n\nIndividuals with DOLK-CDG typically do not survive into adulthood, often because of complications related to dilated cardiomyopathy, and some do not survive past infancy.|MedlinePlus Genetics|N|
C1835851|Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of disorders of keratinization characterized primarily by abnormal skin scaling over the whole body. These disorders are limited to skin, with approximately two-thirds of patients presenting severe symptoms. The main skin phenotypes are lamellar ichthyosis (LI) and nonbullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur (summary by Fischer, 2009). Neither histopathologic findings nor ultrastructural features clearly distinguish between NCIE and LI. In addition, mutations in several genes have been shown to cause both lamellar and nonbullous ichthyosiform erythrodermal phenotypes (Akiyama et al., 2003). At the First Ichthyosis Consensus Conference in Soreze in 2009, the term 'autosomal recessive congenital ichthyosis' (ARCI) was designated to encompass LI, NCIE, and harlequin ichthyosis (ARCI4B; 242500) (Oji et al., 2010).
NCIE is characterized by prominent erythroderma and fine white, superficial, semiadherent scales. Most patients present with collodion membrane at birth and have palmoplantar keratoderma, often with painful fissures, digital contractures, and loss of pulp volume. In half of the cases, a nail dystrophy including ridging, subungual hyperkeratosis, or hypoplasia has been described. Ectropion, eclabium, scalp involvement, and loss of eyebrows and lashes seem to be more frequent in NCIE than in lamellar ichthyosis (summary by Fischer et al., 2000). In LI, the scales are large, adherent, dark, and pigmented with no skin erythema. Overlapping phenotypes may depend on the age of the patient and the region of the body. The terminal differentiation of the epidermis is perturbed in both forms, leading to reduced barrier function and defects of lipid composition in the stratum corneum (summary by Lefevre et al., 2006).
In later life, the skin in ARCI may have scales that cover the entire body surface, including the flexural folds, and the scales are highly variable in size and color. Erythema may be very mild and almost invisible. Some affected persons exhibit scarring alopecia, and many have secondary anhidrosis (summary by Eckl et al., 2005).
For a general phenotypic description and discussion of genetic heterogeneity of autosomal recessive congenital ichthyosis, see ARCI1 (242300).|OMIM|N|
C1835854|Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the S1PR2 gene.|MONDO|N|
C1835857|Rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death. Several risk factors such as smoking, hypertension, and excessive alcohol intake are associated with subarachnoid hemorrhage (summary by Krischek and Inoue, 2006).
For a discussion of genetic heterogeneity of intracranial berry aneurysm, see ANIB1 (105800).|OMIM|N|
C1835865|The first signs and symptoms of cone-rod dystrophy, which often occur in childhood, are usually decreased sharpness of vision (visual acuity) and increased sensitivity to light (photophobia). These features are typically followed by impaired color vision (dyschromatopsia), blind spots (scotomas) in the center of the visual field, and partial side (peripheral) vision loss. Over time, affected individuals develop night blindness and a worsening of their peripheral vision, which can limit independent mobility. Decreasing visual acuity makes reading increasingly difficult and most affected individuals are legally blind by mid-adulthood. As the condition progresses, individuals may develop involuntary eye movements (nystagmus).\n\nThere are more than 30 types of cone-rod dystrophy, which are distinguished by their genetic cause and their pattern of inheritance: autosomal recessive, autosomal dominant, and X-linked. Additionally, cone-rod dystrophy can occur alone without any other signs and symptoms or it can occur as part of a syndrome that affects multiple parts of the body.\n\nCone-rod dystrophy is a group of related eye disorders that causes vision loss, which becomes more severe over time. These disorders affect the retina, which is the layer of light-sensitive tissue at the back of the eye. In people with cone-rod dystrophy, vision loss occurs as the light-sensing cells of the retina gradually deteriorate.|MedlinePlus Genetics|N|
C1835867|WNV is an enveloped, neurotropic, single-stranded sense RNA flavivirus that is naturally maintained in a zoonotic cycle between avian hosts and mosquito vectors. The virus was first isolated from a Ugandan woman in 1937 and subsequently emerged in Europe and, in 1999, in New York, with eventual spread throughout North America. WNV causes a spectrum of disease ranging from acute fever to lethal encephalitis. Susceptibility to WNV is increased in the elderly and in immunocompromised individuals (summary by Diamond and Klein (2006) and Glass et al. (2005)).|OMIM|N|
C1835869|An abnormally increased level of immunoglobulin D in blood.|HPO|N|
C1835875|A type of hypoplastic anemia in which the erythrocytes have a normal cell volume (the mean corpuscular volume is within normal limits).|HPO|N|
C1835881|Intermittently increased size of the liver.|HPO|N|
C1835882|Intermittently increased size of the spleen.|HPO|N|
C1835884|Facial contour, as viewed from the front, triangular in shape, with breadth at the temples and tapering to a narrow chin.|HPO|N|
C1835887|Any transient neonatal diabetes mellitus in which the cause of the disease is a mutation in the ABCC8 gene.|MONDO|N|
C1835888|An exceedingly rare genetic gastroenterological disease characterized by severe malabsorption diarrhea and a lack of intestinal enteroendocrine cells. Within the first weeks of life, patients present with vomiting, dehydration and severe diarrhea unresponsive to various nutrients and formulas and require home parenteral nutrition. The syndrome is also associated with type 1 diabetes during childhood. This phenotype is caused by loss-of-function mutations in the NEUROG3 gene, coding for neurogenin 3, a protein implicated in endocrine enteric and pancreatic cell development.|SNOMEDCT_US|N|
C1835895|Any retinitis pigmentosa in which the cause of the disease is a mutation in the SNRNP200 gene.|MONDO|N|
C1835897|Cone dystrophy with supernormal rod responses (CDSRR) is characterized by onset in the first or second decade of life of very marked photophobia, myopia, reduced color vision along the red-green axis with relatively preserved tritan discrimination, and central scotomata with peripheral widespread sensitivity loss predominating in the superior visual field. Nyctalopia is a later feature of the disorder. There is often retinal pigment epithelium disturbance at the macula with a normal retinal periphery. Autofluorescence (AF) imaging shows either a perifoveal ring or a central macular area of relative increased AF (summary by Michaelides et al., 2005).|OMIM|N|
C1835905|Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is characterized by clusters of nocturnal motor seizures, which are often stereotyped and brief (5 seconds to 5 minutes). They vary from simple arousals from sleep to dramatic, often bizarre hyperkinetic events with tonic or dystonic features. Affected individuals may experience aura. Retained awareness during seizures is common. A minority of individuals experience daytime seizures. Onset ranges from infancy to adulthood. About 80% of individuals develop ADNFLE in the first two decades of life; mean age of onset is ten years. Clinical neurologic examination is normal and intellect is usually preserved, but reduced intellect, psychiatric comorbidity, or cognitive deficits may occur. Within a family, the manifestations of the disorder may vary considerably. ADNFLE is lifelong but not progressive. As an individual reaches middle age, attacks may become milder and less frequent.|GeneReviews|N|
C1835912|Most characteristically, Aicardi-Goutières syndrome (AGS) manifests as an early-onset encephalopathy that usually, but not always, results in severe intellectual and physical disability. A subgroup of infants with AGS present at birth with abnormal neurologic findings, hepatosplenomegaly, elevated liver enzymes, and thrombocytopenia, a picture highly suggestive of congenital infection. Otherwise, most affected infants present at variable times after the first few weeks of life, frequently after a period of apparently normal development. Typically, they demonstrate the subacute onset of a severe encephalopathy characterized by extreme irritability, intermittent sterile pyrexias, loss of skills, and slowing of head growth. Over time, as many as 40% develop chilblain skin lesions on the fingers, toes, and ears. It is becoming apparent that atypical, sometimes milder, cases of AGS exist, and thus the true extent of the phenotype associated with pathogenic variants in the AGS-related genes is not yet known.|GeneReviews|N|
C1835916|Most characteristically, Aicardi-Goutières syndrome (AGS) manifests as an early-onset encephalopathy that usually, but not always, results in severe intellectual and physical disability. A subgroup of infants with AGS present at birth with abnormal neurologic findings, hepatosplenomegaly, elevated liver enzymes, and thrombocytopenia, a picture highly suggestive of congenital infection. Otherwise, most affected infants present at variable times after the first few weeks of life, frequently after a period of apparently normal development. Typically, they demonstrate the subacute onset of a severe encephalopathy characterized by extreme irritability, intermittent sterile pyrexias, loss of skills, and slowing of head growth. Over time, as many as 40% develop chilblain skin lesions on the fingers, toes, and ears. It is becoming apparent that atypical, sometimes milder, cases of AGS exist, and thus the true extent of the phenotype associated with pathogenic variants in the AGS-related genes is not yet known.|GeneReviews|N|
C1835919|Systemic lupus erythematosus (SLE) is a chronic disease that causes inflammation in connective tissues, such as cartilage and the lining of blood vessels, which provide strength and flexibility to structures throughout the body. The signs and symptoms of SLE vary among affected individuals, and can involve many organs and systems, including the skin, joints, kidneys, lungs, central nervous system, and blood-forming (hematopoietic) system. SLE is one of a large group of conditions called autoimmune disorders that occur when the immune system attacks the body's own tissues and organs.\n\nSLE may first appear as extreme tiredness (fatigue), a vague feeling of discomfort or illness (malaise), fever, loss of appetite, and weight loss. Most affected individuals also have joint pain, typically affecting the same joints on both sides of the body, and muscle pain and weakness. Skin problems are common in SLE. A characteristic feature is a flat red rash across the cheeks and bridge of the nose, called a "butterfly rash" because of its shape. The rash, which generally does not hurt or itch, often appears or becomes more pronounced when exposed to sunlight. Other skin problems that may occur in SLE include calcium deposits under the skin (calcinosis), damaged blood vessels (vasculitis) in the skin, and tiny red spots called petechiae. Petechiae are caused by a shortage of cells involved in clotting (platelets), which leads to bleeding under the skin. Affected individuals may also have hair loss (alopecia) and open sores (ulcerations) in the moist lining (mucosae) of the mouth, nose, or, less commonly, the genitals.\n\nAbout a third of people with SLE develop kidney disease (nephritis). Heart problems may also occur in SLE, including inflammation of the sac-like membrane around the heart (pericarditis) and abnormalities of the heart valves, which control blood flow in the heart. Heart disease caused by fatty buildup in the blood vessels (atherosclerosis), which is very common in the general population, is even more common in people with SLE. The inflammation characteristic of SLE can also damage the nervous system, and may result in abnormal sensation and weakness in the limbs (peripheral neuropathy); seizures; stroke; and difficulty processing, learning, and remembering information (cognitive impairment). Anxiety and depression are also common in SLE.\n\nPeople with SLE have episodes in which the condition gets worse (exacerbations) and other times when it gets better (remissions). Overall, SLE gradually gets worse over time, and damage to the major organs of the body can be life-threatening.|MedlinePlus Genetics|N|
C1835922|Aminoacylase-1 deficiency (ACY1D) is a rare autosomal recessive inborn error of metabolism characterized by increased urinary excretion of specific N-actyl amino acids. Most patients show neurologic abnormalities such as intellectual disability, seizures, hypotonia, and motor delay (summary by Ferri et al., 2014).|OMIM|N|
C1835923|Any retinitis pigmentosa in which the cause of the disease is a mutation in the TOPORS gene.|MONDO|N|
C1835926|A dilated cardiomyopathy that has material basis in variation in the chromosome region 7q22.3-q31.1.|MONDO|N|
C1835927|A retinitis pigmentosa that has material basis in variation in the chromosome region 1p21.3-p13.3.|MONDO|N|
C1835928|An autosomal dominant subtype of dilated cardiomyopathy caused by mutation(s) in the PLN gene, encoding cardiac phospholamban.|NCI|N|
C1835931|Combined immunodeficiency due to partial RAG1 deficiency is a form of combined T and B cell immunodeficiency (CID; see this term) characterized by severe and persistent cytomegalovirus (CMV) infection and autoimmune cytopenia.|ORDO|N|
C1835932|Leprosy is a disease of peripheral sensory nerves that results from infection with Mycobacterium leprae, which was first detected in Bergen, Norway, in 1873 by Dr. Armauer Hansen. It can be effectively treated with long-term multidrug therapy. In 2006, more than 250,000 new cases of leprosy were reported to the World Health Organization. Many infected individuals have self-healing indeterminate lesions. Others with initially indeterminate lesions proceed to develop leprosy that can be classified along a clinical and immunologic spectrum from paucibacillary or tuberculoid leprosy to multibacillary or lepromatous leprosy. Most patients fall somewhere between these 2 polar forms of the disease and are classified, using pathology-based criteria developed by Ridley and Jopling (1966), as borderline tuberculoid, midborderline, and borderline lepromatous. The paucibacillary form is associated with strong M. leprae-specific cell-mediated immunity (CMI), whereas the multibacillary form is notable for the lack of antigen-specific CMI. The prevalence of paucibacillary versus multibacillary leprosy varies in different populations. M. leprae cannot be cultured in vitro and grows slowly in the footpads of mice, the liver and spleen of armadillos, and in some nonhuman primates. A genetic component to leprosy susceptibility has long been suspected. While contact with a multibacillary patient increases the relative risk of acquiring disease, most new patients have no known contact with other patients. For further information, see reviews by Fitness et al. (2002), Mira (2006), Moraes et al. (2006), Scollard et al. (2006), and Alter et al. (2008).|OMIM|N|
C1835978|Description of conditions in which age of onset is typically later in life and in which penetrance is dependent on the age of the subject.|HPO|N|
C1835980|Parietal foramina-3 is a nonsyndromic developmental defect characterized by symmetrical oval holes in the parietal bone (Chen et al., 2003).
For a discussion of genetic heterogeneity of parietal foramina, see 168500.|OMIM|N|
C1836003|Facial diplegia refers to bilateral facial palsy (bilateral facial palsy is much rarer than unilateral facial palsy).|HPO|N|
C1836006|Any nanophthalmia in which the cause of the disease is a mutation in the MFRP gene.|MONDO|N|
C1836007|A rare multiple congenital anomalies/dysmorphic syndrome with characteristics of large omphalocele containing liver and small intestine, diaphragmatic hernia, cardiovascular anomalies (e. g. aortic coarctation), variable limb malformations (including radioulnar synostosis, agenesis of the radius and/or thumb, generalised syndactyly, and numerical reduction of toes), and dysmorphic facial features. Additional reported manifestations are unilateral absence of umbilical artery, intestinal malrotation, hypoplastic ovaries, and unilateral renal agenesis, among others. The condition is mostly fatal in the neonatal period.|SNOMEDCT_US|N|
C1836010|Spastic paraplegia, optic atrophy, and neuropathy (SPOAN) is an autosomal recessive neurodegenerative disorder characterized by early-onset progressive spastic paraplegia resulting in loss of independent ambulation in the teenage years. Additional features include optic atrophy, later onset of sensorimotor peripheral neuropathy, and progressive joint contractures; cognition remains intact (summary by Melo et al., 2015).|OMIM|N|
C1836012|Hyperactive stretch reflexes of muscles that move proximal joints (elbow, knee).|HPO|N|
C1836022|A type of spinal dysraphism presenting as a subcutaneous fatty mass, that is, a spinal defect associated with lipomatous tissue, and covered by skin. The most usual location for lipomyelomeningocele is at the gluteal cleft.|HPO|N|
C1836027|Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the PCDH15 gene.|MONDO|N|
C1836032|Any selective IgA deficiency disease in which the cause of the disease is a mutation in the TNFRSF13B gene.|MONDO|N|
C1836033|Cerebral dysgenesis, neuropathy, ichthyosis, and keratoderma syndrome (CEDNIK) refers to a unique constellation of clinical manifestations including global developmental delay with hypotonia, roving eye movements or nystagmus, poor motor skills, and impaired intellectual development with speech delay. More variable features include microcephaly, feeding difficulties, seizures, ocular anomalies, hearing loss, and nonspecific dysmorphic facial features. Palmoplantar keratoderma and ichthyosis or neuropathy develop in some patients. Brain magnetic resonance imaging (MRI) shows varying degrees of cerebral dysgenesis, including absence of the corpus callosum and cortical dysplasia, as well as hypomyelination, white matter loss, and white matter signal anomalies suggestive of a leukodystrophy. Some patients may show developmental regression; many die in childhood (Fuchs-Telem et al., 2011; Mah-Som et al., 2021). With more patients being reported, several authors (Diggle et al., 2017; Llaci et al., 2019; Mah-Som et al., 2021) have observed that the dermatologic features and peripheral neuropathy show reduced penetrance and are more variable manifestations of this disorder, as they are not observed in all patients with biallelic SNAP29 mutations.|OMIM|N|
C1836038|Difficulty to maintain correct position of the head while standing or sitting.|HPO|N|
C1836047|Facial height (length) is more than 2 standard deviations above the mean (objective); or, an apparent increase in the height (length) of the face (subjective).|HPO|N|
C1836050|Other signs and symptoms of myofibrillar myopathy can include a weakened heart muscle (cardiomyopathy), muscle pain (myalgia), loss of sensation and weakness in the limbs (peripheral neuropathy), and respiratory failure. Individuals with this condition may have skeletal problems including joint stiffness (contractures) and abnormal side-to-side curvature of the spine (scoliosis). Rarely, people with this condition develop clouding of the lens of the eyes (cataracts).\n\nThe signs and symptoms of myofibrillar myopathy vary widely among affected individuals, typically depending on the condition's genetic cause. Most people with this disorder begin to develop muscle weakness (myopathy) in mid-adulthood. However, features of this condition can appear anytime between infancy and late adulthood. Muscle weakness most often begins in the hands and feet (distal muscles), but some people first experience weakness in the muscles near the center of the body (proximal muscles). Other affected individuals develop muscle weakness throughout their body. Facial muscle weakness can cause swallowing and speech difficulties. Muscle weakness worsens over time.\n\nMyofibrillar myopathy is part of a group of disorders called muscular dystrophies that affect muscle function and cause weakness. Myofibrillar myopathy primarily affects skeletal muscles, which are muscles that the body uses for movement. In some cases, the heart (cardiac) muscle is also affected.|MedlinePlus Genetics|N|
C1836057|Fiber splitting or branching is a common finding in human and rat skeletal muscle pathology. Fiber splitting refers to longitudinal halving of the complete fiber, while branching originates from a regenerating end of a necrotic fiber as invaginations of the sarcolemma. In fiber branching, one end of the fiber remains intact as a single entity, while the other end has several branches.|HPO|N|
C1836081|A rare hereditary non-syndromic form of vitreoretinopathy with characteristics of retinal tears due to abnormal vitreous and commonly present refractive errors. No other signs or symptoms of Stickler syndrome are present. Can be caused by mutation in the COL2A1 gene.|SNOMEDCT_US|N|
C1836121|Al-Gazali syndrome (ALGAZ) is characterized by prenatal growth retardation, skeletal anomalies including joint contractures, camptodactyly, and bilateral talipes equinovarus, small mouth, anterior segment eye anomalies, and early lethality (summary by Ben-Mahmoud et al., 2018).|OMIM|N|
C1836122|A rare systemic inflammatory disease with characteristics of early onset granulomatous arthritis, uveitis and skin rash. There are familial and sporadic forms of the same disease. The disease is due to an inherited or de novo mutation in the NOD2 gene (16q12), responsible for alterations in the innate immune response, inflammation and cell death.|SNOMEDCT_US|N|
C1836123|Goldberg-Shprintzen syndrome (GOSHS) is an autosomal recessive multiple congenital anomaly syndrome characterized by impaired intellectual development, microcephaly, and dysmorphic facial features. Most patients also have Hirschsprung disease and/or gyral abnormalities of the brain, consistent with defects in migration of neural crest cells and neurons. Other features, such as megalocornea or urogenital anomalies, may also be present. Goldberg-Shprintzen syndrome has some resemblance to Mowat-Wilson syndrome (MOWS; 235730) but is genetically distinct (summary by Drevillon et al., 2013).|OMIM|N|
C1836149|A type of dystonia that affects the midline muscles, i.e., the chest, abdominal, and back muscles.|HPO|N|
C1836155|A rare genetic non-dystrophic myofibrillar myopathy disorder with characteristics of late-adult onset of distal and/or proximal limb muscle weakness with initial involvement of posterior lower leg muscles, medial gastrocnemius and soleus. Patients present with ankle weakness followed by weakness of finger and wrist extensors and later of the proximal muscles. Ambulation is usually preserved. Late-onset associated cardiomyopathy and/or neuropathy has been reported in a minority of cases. Caused by heterozygous mutation in the ZASP gene on chromosome 10.|SNOMEDCT_US|N|
C1836156|Lack of strength of the proximal muscles that becomes progressively more severe.|HPO|N|
C1836173|This syndrome is characterised by the association of paroxysmal dyskinesia and generalised epilepsy (usually absence or generalised tonic-clonic seizures) in the same individual or family. The prevalence is unknown. Transmission is autosomal dominant.|SNOMEDCT_US|N|
C1836184|An abnormally short femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft).|HPO|N|
C1836186|Absence of the fibula.|HPO|N|
C1836189|Bending or curvature of a finger toward the radial side (i.e., towards the thumb). The deviation is at the metacarpal-phalangeal joint, and this finding is distinct from clinodactyly.|HPO|N|
C1836192|Aplasia or Hypoplasia affecting the metacarpal bones.|HPO|N|
C1836195|A toe that appears disproportionately short compared to the foot.|HPO|N|
C1836199|DFNB48 is an autosomal recessive form of deafness. Affected individuals have prelingual onset of severe to profound sensorineural hearing loss affecting all frequencies (summary by Riazuddin et al., 2012).|OMIM|N|
C1836206|Mesoaxial synostotic syndactyly with phalangeal reduction (MSSD) represents a distinctive combination of clinical features that includes mesoaxial osseous synostosis at a metacarpal level, reduction of one or more phalanges, hypoplasia of distal phalanges of preaxial and postaxial digits, clinodactyly of fifth fingers, and preaxial fusion of toes (Malik et al., 2014).|OMIM|N|
C1836212|Fusion of the proximal and middle phalanges of the 5th finger.|HPO|N|
C1836213|Absence or underdevelopment of the big toe.|HPO|N|
C1836219|Congenital absence of a carpal bone.|HPO|N|
C1836230|The pathogenesis of HIV infection and the progression from infection to AIDS vary significantly between exposed individuals. Infection occurs after the virus, which has macrophage (M)- and T lymphocyte (T)-tropic strains and more than 12 subtypes, survives an array of nonspecific, nongenetic environmental and host factors.|OMIM|N|
C1836254|A holoprosencephaly that has material basis in variation in the chromosome region 14q13.|MONDO|N|
C1836255|Women who have had preeclampsia have approximately twice the lifetime risk of heart disease and stroke than do women in the general population. Researchers suggest that preeclampsia, heart disease, and stroke may share common risk factors. Women who have diseases such as obesity, hypertension, heart disease, diabetes, or kidney disease before they become pregnant have an increased risk of developing preeclampsia. Preeclampsia is most likely to occur in a woman's first pregnancy, although it can occur in subsequent pregnancies, particularly in women with other health conditions.\n\nSevere preeclampsia can also affect the fetus, with impairment of blood and oxygen flow leading to growth problems or stillbirth. Infants delivered early due to preeclampsia may have complications associated with prematurity, such as breathing problems caused by underdeveloped lungs.\n\nBetween 10 and 20 percent of women with severe preeclampsia develop another potentially life-threatening complication called HELLP syndrome. HELLP stands for hemolysis (premature red blood cell breakdown), elevated liver enzyme levels, and low platelets (cells involved in blood clotting), which are the key features of this condition.\n\nIn many cases, symptoms of preeclampsia go away within a few days after the baby is born. In severe cases, however, preeclampsia can damage the mother's organs, such as the heart, liver, and kidneys, and can lead to life-threatening complications. Extremely high blood pressure in the mother can cause bleeding in the brain (hemorrhagic stroke). The effects of high blood pressure on the brain (hypertensive encephalopathy) may also result in seizures. If seizures occur, the condition is considered to have worsened to eclampsia, which can result in coma. About 1 in 200 women with untreated preeclampsia develop eclampsia. Eclampsia can also develop without any obvious signs of preeclampsia.\n\nMany women with mild preeclampsia do not feel ill, and the condition is often first detected through blood pressure and urine testing in their doctor's office. In addition to hypertension and proteinuria, signs and symptoms of preeclampsia can include excessive swelling (edema) of the face or hands and a weight gain of more than 3 to 5 pounds in a week due to fluid retention. Affected women may also experience headaches, dizziness, irritability, shortness of breath, a decrease in urination, upper abdominal pain, and nausea or vomiting. Vision changes may develop, including flashing lights or spots, increased sensitivity to light (photophobia), blurry vision, or temporary blindness.\n\nPreeclampsia is a complication of pregnancy in which affected women develop high blood pressure (hypertension); they can also have abnormally high levels of protein in their urine (proteinuria). This condition usually occurs in the last few months of pregnancy and often requires early delivery of the infant. However, this condition can also appear shortly after giving birth (postpartum preeclampsia).|MedlinePlus Genetics|N|
C1836271|Autism, the prototypic pervasive developmental disorder (PDD), is usually apparent by 3 years of age. It is characterized by a triad of limited or absent verbal communication, a lack of reciprocal social interaction or responsiveness, and restricted, stereotypic, and ritualized patterns of interests and behavior (Bailey et al., 1996; Risch et al., 1999). 'Autism spectrum disorder,' sometimes referred to as ASD, is a broader phenotype encompassing the less severe disorders Asperger syndrome (see ASPG1; 608638) and pervasive developmental disorder, not otherwise specified (PDD-NOS). 'Broad autism phenotype' includes individuals with some symptoms of autism, but who do not meet the full criteria for autism or other disorders. Mental retardation coexists in approximately two-thirds of individuals with ASD, except for Asperger syndrome, in which mental retardation is conspicuously absent (Jones et al., 2008). Genetic studies in autism often include family members with these less stringent diagnoses (Schellenberg et al., 2006).
For a discussion of genetic heterogeneity of autism, see 209850.|OMIM|N|
C1836272|A cataract that has material basis in variation in the region 19q13.|MONDO|N|
C1836284|Epidermolysis bullosa simplex (EBS) is characterized by fragility of the skin (and mucosal epithelia in some instances) that results in non-scarring blisters and erosions caused by minor mechanical trauma. EBS is distinguished from other types of epidermolysis bullosa (EB) or non-EB skin fragility syndromes by the location of the blistering in relation to the dermal-epidermal junction. In EBS, blistering occurs within basal keratinocytes. The severity of blistering ranges from limited to hands and feet to widespread involvement. Additional features can include hyperkeratosis of the palms and soles (keratoderma), nail dystrophy, milia, and hyper- and/or hypopigmentation. Rare EBS subtypes have been associated with additional clinical features including pyloric atresia, muscular dystrophy, cardiomyopathy, and/or nephropathy.|GeneReviews|N|
C1836295|Spastic paraplegia-29 (SPG28) is an autosomal recessive neurodegenerative disorder characterized by early-onset, slowly progressive lower-limb spasticity resulting in walking difficulties. Some patients also have distal sensory impairment (summary by Tesson et al., 2012).
For a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive spastic paraplegia, see 270800.|OMIM|N|
C1836296|Weakness of the muscles of the legs.|HPO|N|
C1836307|A rare primary bone dysplasia disorder characterized by strikingly small secondary ossification centers (mini-epiphyses) in all or only some joints, resulting in severe bone dysplasia of the proximal femoral heads. Short stature, increased lumbar lordosis, genua vara and generalized joint laxity have also been reported.|SNOMEDCT_US|N|
C1836308|Joint hypermobility (ability of a joint to move beyond its normal range of motion) affecting many or all joints of the body. In individuals with Joint hypermobility at multiple sites (usually five or more), the term generalized joint hypermobility is preferred.|HPO|N|
C1836315|A rare primary bone dysplasia characterised by severe early-onset dysplasia of the proximal femurs, with almost complete absence of the secondary ossification centres and abnormal development of the femoral necks (short and broad with irregular metaphyses). It is associated with gait abnormality, mild short stature, arthralgia, and joint stiffness with limited mobility of the hips and irregular acetabula, and hip and knee pain. Coxa vara and mild spinal changes are also associated.|SNOMEDCT_US|N|
C1836320|Irregularity of the normally smooth surface of the proximal metaphysis of the femur.|HPO|N|
C1836327|The rhabdoid tumor predisposition syndrome is an autosomal dominant cancer syndrome predisposing to renal or extrarenal malignant rhabdoid tumors and to a variety of tumors of the central nervous system, including choroid plexus carcinoma, medulloblastoma, and central primitive neuroectodermal tumors (Sevenet et al., 1999).
Rhabdoid tumors are a highly malignant group of neoplasms that usually occur in children less than 2 years of age. Malignant rhabdoid tumors (MRTs) of the kidney were first described as a sarcomatous variant of Wilms tumors (Beckwith and Palmer, 1978). Later, extrarenal rhabdoid tumor was reported in numerous locations, including the central nervous system (CNS) (Parham et al., 1994). Classification has been difficult because of considerable variation in the histologic and immunologic characteristics within and between rhabdoid tumors of the liver, soft tissues, and CNS. In the CNS, rhabdoid tumors may be pure rhabdoid tumors or a variant that has been designated atypical teratoid tumor (AT/RT).
Genetic Heterogeneity of Rhabdoid Tumor Predisposition Syndrome
See also RTPS2 (613325), caused by germline mutation in the SMARCA4 gene (603254) on chromosome 19p13.|OMIM|N|
C1836330|MEDNIK syndrome is a severe multisystem disorder characterized by impaired intellectual development, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma (summary by Montpetit et al., 2008).
Patients with MEDNIK exhibit distinct dysmorphic features, including high forehead, upslanting palpebral fissures, depressed nasal bridge, and low-set ears, as well as growth retardation and moderate to severe intellectual disability, with brain atrophy on imaging. Other features include sensorineural deafness, enteropathy with congenital diarrhea, abnormalities of copper metabolism associated with liver disease, and ichthyosis, hyperkeratosis, and erythroderma. Peripheral neuropathy has also been observed in adult patients (Martinelli et al., 2013).
MEDNIK syndrome shows phenotypic similarities to CEDNIK syndrome (609528).|OMIM|N|
C1836336|Charcot-Marie-Tooth disease, type 4H (CMT4H) is a demyelinating CMT peripheral sensorimotor polyneuropathy. It has been described in 10 individuals from two large consanguineous families from Lebanon and Algeria. Onset occurs within the first two years of life with slowly progressive muscle weakness in the distal extremities. Other common features include delayed walking, an abnormal gait, scoliosis and pes equines with toe retraction. CMT4H is caused by mutations in the FGD4 gene (12p11.1). Transmitted in an autosomal recessive manner.|SNOMEDCT_US|N|
C1836373|Limb-girdle muscular dystrophies resulting from defective glycosylation of alpha-dystroglycan (DAG1; 128239) represent the mildest end of the phenotypic spectrum of muscular dystrophies collectively known as dystroglycanopathies. The limb-girdle phenotype is characterized by onset of muscular weakness apparent after ambulation is achieved; mental retardation and mild brain anomalies are variable (Balci et al., 2005; review by Godfrey et al., 2007). The most severe end of the phenotypic spectrum of dystroglycanopathies is represented by congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A; see MDDGA1, 236670), previously designated Walker-Warburg syndrome (WWS) or muscle-eye-brain disease (MEB), and the intermediate range of the spectrum is represented by congenital muscular dystrophy-dystroglycanopathy with or without mental retardation (type B; see MDDGB1, 613155).
Genetic Heterogeneity of Limb-Girdle Muscular Dystrophy-Dystroglycanopathy (Type C)
Limb-girdle muscular dystrophy due to defective glycosylation of DAG1 is genetically heterogeneous. See also MDDGC2 (613158), caused by mutation in the POMT2 gene (607439); MDDGC3 (613157), caused by mutation in the POMGNT1 gene (606822); MDDGC4 (611588), caused by mutation in the FKTN gene (607440); MDDGC5 (607155), caused by mutation in the FKRP gene (606596); MDDGC7 (616052), caused by mutation in the ISPD gene (CRPPA; 614631); MDDGC8 (618135), caused by mutation in the POMGNT2 gene (614828); MDDGC9 (613818) caused by mutation in the DAG1 gene (128239); MDDGC12 (616094), caused by mutation in the POMK gene (615247); MDDGC14 (615352) caused by mutation in the GMPPB gene (615320); and MDDGC15 (612937), caused by mutation in the DPM3 gene (605951).|OMIM|N|
C1836383|Disease with characteristics of early-onset tremor, dyskinesia and slowly progressive cerebellar ataxia. Fewer than 30 cases have been reported to date. This disease is caused by a mutation in the fibroblast growth factor 14 FGF14 gene (13q34). Prognosis is relatively good. Life-threatening status epilepticus and intractable seizure or severe dysphagia is rare.|SNOMEDCT_US|N|
C1836392|The controller signal for saccadic eye movements has two components|HPO|N|
C1836393|An abnormality of eye movement characterized by impaired smooth-pursuit eye movements.|HPO|N|
C1836395|A very rare subtype of autosomal dominant cerebellar ataxia type 3 with characteristics of late-onset and slowly progressive cerebellar signs (gait ataxia) and eye movement abnormalities. To date, only 23 affected patients have been described from one American family of Norwegian descent. Disease onset occurs between the ages of 26-60. A candidate gene has recently been identified as the eukaryotic translation elongation factor 2 (EEF2) gene, located on chromosome 19p13.3. Inherited autosomal dominantly.|SNOMEDCT_US|N|
C1836437|BILU syndrome is an autosomal dominant complex disorder characterized by humoral immunodeficiency with undetectable B cells, distal limb anomalies, dysmorphic facial features, and urogenital malformations (summary by Hugle et al., 2011).|OMIM|N|
C1836438|Vasovagal syncope (VVS) is an exaggerated tendency toward the common faint caused by a sudden and profound hypotension with or without bradycardia. Several lines of evidence indicate central and peripheral abnormalities of sympathetic function. Newton et al. (2005) stated that a definitive diagnosis of VVS is made only when a patient has reproduction of symptoms in association with hypotension or bradycardia. The head up tilt (HUT) test is the investigation carried out to induce these hemodynamic changes (Parry and Kenny, 1999).
This disorder may be the same as Streeten-type orthostatic hypotensive disorder (143850).|OMIM|N|
C1836439|Progressive external ophthalmoplegia is characterized by multiple mitochondrial DNA deletions in skeletal muscle. The most common clinical features include adult onset of weakness of the external eye muscles and exercise intolerance. Patients with C10ORF2-linked adPEO may have other clinical features including proximal muscle weakness, ataxia, peripheral neuropathy, cardiomyopathy, cataracts, depression, and endocrine abnormalities (summary by Fratter et al., 2010).
For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant progressive external ophthalmoplegia, see PEOA1 (157640).
PEO caused by mutations in the POLG gene (174763) are associated with more complicated phenotypes than those forms caused by mutations in the SLC25A4 (103220) or C10ORF2 genes (Lamantea et al., 2002).|OMIM|N|
C1836440|Abnormally increased level of blood lactate (2-hydroxypropanoic acid). Lactate is produced from pyruvate by lactate dehydrogenase during normal metabolism. The terms lactate and lactic acid are often used interchangeably but lactate (the component measured in blood) is strictly a weak base whereas lactic acid is the corresponding acid. Lactic acidosis is often used clinically to describe elevated lactate but should be reserved for cases where there is a corresponding acidosis (pH below 7.35).|HPO|N|
C1836447|Nemaline myopathy is divided into six types.  In order of decreasing severity, the types are: severe congenital, Amish, intermediate congenital, typical congenital, childhood-onset, and adult-onset. The types are distinguished by the age when symptoms first appear and the severity of symptoms; however, there is overlap among the various types. The severe congenital type is the most life-threatening. Most individuals with this type do not survive past early childhood due to respiratory failure. The Amish type solely affects the Old Order Amish population of Pennsylvania and is typically fatal in early childhood. The most common type of nemaline myopathy is the typical congenital type, which is characterized by muscle weakness and feeding problems beginning in infancy. Most of these individuals do not have severe breathing problems and can walk unassisted. People with the childhood-onset type usually develop muscle weakness in adolescence. The adult-onset type is the mildest of all the various types. People with this type usually develop muscle weakness between ages 20 and 50.\n\nNemaline myopathy is a disorder that primarily affects skeletal muscles, which are muscles that the body uses for movement. People with nemaline myopathy have muscle weakness (myopathy) throughout the body, but it is typically most severe in the muscles of the face; neck; trunk; and other muscles close to the center of the body (proximal muscles), such as those of the upper arms and legs. This weakness can worsen over time.  Affected individuals may have feeding and swallowing difficulties, foot deformities, abnormal curvature of the spine (scoliosis), and joint deformities (contractures). Most people with nemaline myopathy are able to walk, although some affected children may begin walking later than usual.  As the condition progresses, some people may require wheelchair assistance. In severe cases, the muscles used for breathing are affected and life-threatening breathing difficulties can occur.|MedlinePlus Genetics|N|
C1836450|Reduced strength of the distal musculature of the legs.|HPO|N|
C1836451|Muscular atrophy of distal leg muscles.|HPO|N|
C1836460|Progressive external ophthalmoplegia is characterized by multiple mitochondrial DNA deletions in skeletal muscle. The most common clinical features include adult onset of weakness of the external eye muscles and exercise intolerance. Both autosomal dominant and autosomal recessive inheritance can occur; autosomal recessive inheritance is usually more severe (Filosto et al., 2003; Luoma et al., 2004).
PEO caused by mutations in the POLG gene are associated with more complicated phenotypes than those forms caused by mutations in the ANT1 or C10ORF2 genes (Lamantea et al., 2002).
For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant progressive external ophthalmoplegia, see PEOA1 (157640).|OMIM|N|
C1836472|Nemaline myopathy-6 is an autosomal dominant skeletal muscle disorder characterized by childhood onset of slowly progressive proximal muscle weakness, exercise intolerance, and slow movements with stiff muscles. Patients are unable to run or correct themselves from falling over. Histopathologic changes seen on skeletal muscle biopsy include nemaline rods, cores devoid of oxidative enzyme activity, and predominance of hypertrophic type 1 fibers. There is no cardiac or respiratory involvement (summary by Sambuughin et al., 2010).|OMIM|N|
C1836474|Autosomal recessive spinocerebellar ataxia is a neurologic disorder characterized by onset of progressive gait difficulties, eye movement abnormalities, and dysarthria in the first or second decade of life (summary by Dy et al., 2015).|OMIM|N|
C1836479|An abnormality of tracking eye movements in which smooth pursuit is interrupted by an abnormally high number of saccadic movements.|HPO|N|
C1836482|Li-Fraumeni syndrome is a rare disorder that greatly increases the risk of developing several types of cancer, particularly in children and young adults.\n\nThe cancers most often associated with Li-Fraumeni syndrome include breast cancer, a form of bone cancer called osteosarcoma, and cancers of soft tissues (such as muscle) called soft tissue sarcomas. Other cancers commonly seen in this syndrome include brain tumors, cancers of blood-forming tissues (leukemias), and a cancer called adrenocortical carcinoma that affects the outer layer of the adrenal glands (small hormone-producing glands on top of each kidney). Several other types of cancer also occur more frequently in people with Li-Fraumeni syndrome.\n\nA very similar condition called Li-Fraumeni-like syndrome shares many of the features of classic Li-Fraumeni syndrome. Both conditions significantly increase the chances of developing multiple cancers beginning in childhood; however, the pattern of specific cancers seen in affected family members is different.|MedlinePlus Genetics|N|
C1836484|Stuttering is a speech disorder characterized by the presence of syllable repetitions, syllable prolongations, and interruptions in the smooth flow of speech known as blocks (summary by Riaz et al., 2005).
For a general phenotypic description and a discussion of genetic heterogeneity of familial persistent stuttering, see 184450.|OMIM|N|
C1836503|Myopia, or nearsightedness, is a refractive error of the eye. Light rays from a distant object are focused in front of the retina and those from a near object are focused in the retina; therefore distant objects are blurry and near objects are clear (summary by Kaiser et al., 2004).
For a discussion of genetic heterogeneity of susceptibility to myopia, see 160700.|OMIM|N|
C1836504|Myopia, or nearsightedness, is a refractive error of the eye. Light rays from a distant object are focused in front of the retina and those from a near object are focused in the retina; therefore distant objects are blurry and near objects are clear (summary by Kaiser et al., 2004).
For a discussion of genetic heterogeneity of susceptibility to myopia, see 160700.|OMIM|N|
C1836505|Myopia, or nearsightedness, is a refractive error of the eye. Light rays from a distant object are focused in front of the retina and those from a near object are focused in the retina; therefore distant objects are blurry and near objects are clear (summary by Kaiser et al., 2004).
For a discussion of genetic heterogeneity of susceptibility to myopia, see 160700.|OMIM|N|
C1836506|Myopia, or nearsightedness, is a refractive error of the eye. Light rays from a distant object are focused in front of the retina and those from a near object are focused in the retina; therefore distant objects are blurry and near objects are clear (summary by Kaiser et al., 2004).
For a discussion of genetic heterogeneity of susceptibility to myopia, see 160700.|OMIM|N|
C1836508|A generalized tonic seizure is a type of generalized motor seizure characterized by bilateral limb stiffening or elevation, often with neck stiffening without a subsequent clonic phase. The tonic activity can be a sustained abnormal posture, either in extension or flexion, sometimes accompanied by tremor of the extremities.|HPO|N|
C1836517|Senior-Loken syndrome is an autosomal recessive disorder with the main features of nephronophthisis (NPHP; see 256100) and Leber congenital amaurosis (LCA; see 204000).
For a general phenotypic description and a discussion of genetic heterogeneity of Senior-Loken syndrome, see 266900.|OMIM|N|
C1836522|Alpha-N-acetylgalactosaminidase (NAGA) deficiency is a very rare lysosomal storage disorder with atypical features. It is clinically heterogeneous with 3 main phenotypes: type I is an infantile-onset neuroaxonal dystrophy (609241); type II, also known as Kanzaki disease, is an adult-onset disorder characterized by angiokeratoma corporis diffusum and mild intellectual impairment; and type III is an intermediate disorder (see 609241) with mild to moderate neurologic manifestations (Desnick and Schindler, 2001).|OMIM|N|
C1836527|Reduced ability to sense pain, temperature, touch, vibration stimuli in the distal regions of the extremities.|HPO|N|
C1836533|Excretion of peptides conjugated to sialic acid in the urine.|HPO|N|
C1836542|Posterior positioning of the nasal root in relation to the overall facial profile for age.|HPO|N|
C1836543|Increased width of the skin of vermilion border region of upper lip.|HPO|N|
C1836544|Alpha-N-acetylgalactosaminidase (NAGA) deficiency is a very rare lysosomal storage disorder. It is clinically heterogeneous with 3 main phenotypes: type I is an infantile-onset neuroaxonal dystrophy; type II, also known as Kanzaki disease (609242), is an adult-onset disorder characterized by angiokeratoma corporis diffusum and mild intellectual impairment; and type III is an intermediate disorder with mild to moderate neurologic manifestations (Desnick and Schindler, 2001).|OMIM|N|
C1836573|Griscelli syndrome type 3 (GS3) is a rare autosomal recessive disorder that results in a characteristic pigmentary dilution of the skin and hair, which shows a silvery-gray sheen associated with large clumps of pigment in hair shafts and an abnormal accumulation of end-stage melanosomes in the center of melanocytes. There are no immunologic or neurologic manifestations (summary by Menasche et al., 2003).
For a discussion of phenotypic and genetic heterogeneity in Griscelli syndrome, see GS1 (214450).|OMIM|N|
C1836576|Hypopigmented hair that appears silver-gray.|HPO|N|
C1836589|Reduced ability to move the femur outward to the side.|HPO|N|
C1836598|Description of conditions in which not all individuals with a given genotype exhibit the disease. Penetrance is the proportion that develop disease given a lifespan of 80 years.|HPO|N|
C1836599|The presence of an abnormally large skull with onset at birth.|HPO|N|
C1836600|A congenital defect in the occipital region of the skull, covered by skin of the scalp and containing meninges or remnants of glial or neural tissues.|HPO|N|
C1836602|Bruck syndrome-2 (BRKS2) is an autosomal recessive disorder characterized by osteoporosis, joint contractures at birth, fragile bones, and short stature (Van der Slot et al., 2003).
For a discussion of genetic heterogeneity of Bruck syndrome, see Bruck syndrome-1 (BRKS1; 259450).|OMIM|N|
C1836609|Progressively reduced strength of the distal musculature.|HPO|N|
C1836621|Familial isolated glucocorticoid deficiency is an adrenocortical failure characterized by very low levels of plasma cortisol despite high levels of plasma adrenocorticotropin (ACTH). Moreover, the adrenal response to ACTH is severely impaired. There is no mineralocorticoid deficiency and the renin-angiotensin system is not affected (summary by Genin et al., 2002).
For a general phenotypic description and a discussion of genetic heterogeneity of familial glucocorticoid deficiency, see GCCD1 (202200).|OMIM|N|
C1836623|Abnormally reduced concentration of cortisol in the blood.|HPO|N|
C1836632|SPG26 is an autosomal recessive form of complicated spastic paraplegia characterized by onset in the first 2 decades of life of gait abnormalities due to lower limb spasticity and muscle weakness. Some patients have upper limb involvement. Additional features include intellectual disability, peripheral neuropathy, dysarthria, cerebellar signs, extrapyramidal signs, and cortical atrophy. The disorder is slowly progressive (summary by Boukhris et al., 2013).
For a discussion of genetic heterogeneity of autosomal recessive SPG, see SPG5A (270800).|OMIM|N|
C1836635|Loeys-Dietz Syndrome with aortic aneurysm or dissection.|MSH|N|
C1836646|An abnormally increased ability of the skin to permit light to pass through (translucency) such that subcutaneous structures such as veins display an increased degree of visibility.|HPO|N|
C1836651|Abnormal tortuous (i.e., twisted) form of arteries affecting most or all arteries.|HPO|N|
C1836653|A separation of the layers within the wall of the ascending aorta. Tears in the intimal layer result in the propagation of dissection (proximally or distally) secondary to blood entering the intima-media space.|HPO|N|
C1836669|Congenital disorders of glycosylation (CDGs) are metabolic deficiencies in glycoprotein biosynthesis that usually cause severe mental and psychomotor retardation. Different forms of CDGs can be recognized by altered isoelectric focusing (IEF) patterns of serum transferrin. For a general discussion of CDGs, see CDG Ia (212065) and CDG Ib (602579).|OMIM|N|
C1836672|Autosomal recessive hypotrichosis is a condition that affects hair growth. People with this condition have sparse hair (hypotrichosis) on the scalp beginning in infancy. This hair is usually coarse, dry, and tightly curled (often described as woolly hair). Scalp hair may also be lighter in color than expected and is fragile and easily broken. Affected individuals often cannot grow hair longer than a few inches. The eyebrows, eyelashes, and other body hair may be sparse as well. Over time, the hair problems can remain stable or progress to complete scalp hair loss (alopecia) and a decrease in body hair.\n\nRarely, people with autosomal recessive hypotrichosis have skin problems affecting areas with sparse hair, such as redness (erythema), itchiness (pruritus), or missing patches of skin (erosions) on the scalp. In areas of poor hair growth, they may also develop bumps called hyperkeratotic follicular papules that develop around hair follicles, which are specialized structures in the skin where hair growth occurs.|MedlinePlus Genetics|N|
C1836673|A multiple congenital anomalies syndrome, described in one family to date, with characteristics of branchial cysts or fistula, ear malformations, congenital hearing loss (conductive, sensorineural, and mixed), internal auditory canal hypoplasia, strabismus, trismus, abnormal fifth fingers, vitiliginous lesions, short stature and mild learning disability. Renal and urethral abnormalities are absent.|SNOMEDCT_US|N|
C1836674|Hypoplastic/small distal phalanx of the fifth finger.|HPO|N|
C1836678|An abnormality of the middle-ear ossicles (three small bones called malleus, incus, and stapes) that are contained within the middle ear and serve to transmit sounds from the air to the fluid-filled labyrinth (cochlea).|HPO|N|
C1836681|Ichthyosis with confetti is a disorder of the skin. Individuals with this condition are born with red, scaly skin all over the body, which can be itchy in some people. In childhood or adolescence, hundreds to thousands of small patches of normal skin appear, usually on the torso. The numerous pale spots surrounded by red skin look like confetti, giving the condition its name. The patches of normal skin increase in number and size over time.\n\nIn addition to red, scaly skin, people with ichthyosis with confetti typically have abnormally thick skin on the palms of the hands and soles of the feet (palmoplantar keratoderma). Many affected individuals have excess hair (hirsutism) on some parts of the body, particularly on the arms and legs. Because of their skin abnormalities, people with ichthyosis with confetti are at increased risk of developing skin infections.|MedlinePlus Genetics|N|
C1836683|Czech dysplasia is an autosomal dominant skeletal dysplasia characterized by early-onset, progressive pseudorheumatoid arthritis, platyspondyly, and short third and fourth toes (Marik et al., 2004; Kozlowski et al., 2004).|OMIM|N|
C1836688|Decreased width of the wing (or ala) of the ilium (which is the large expanded portion which bounds the greater pelvis laterally).|HPO|N|
C1836694|An adult-onset movement disorder characterized by bradykinesia, dysarthria and muscle rigidity.|ORDO|N|
C1836704|Arrhythmogenic right ventricular cardiomyopathy (ARVC) – previously referred to as arrhythmogenic right ventricular dysplasia (ARVD) – is characterized by progressive fibrofatty replacement of the myocardium that predisposes to ventricular tachycardia and sudden death in young individuals and athletes. It primarily affects the right ventricle, and it may also involve the left ventricle. The presentation of disease is highly variable even within families, and some affected individuals may not meet established clinical criteria. The mean age at diagnosis is 31 years (±13; range: 4-64 years).|GeneReviews|N|
C1836705|'Familial pseudohyperkalemia' (PSHK) is a term that was coined to describe conditions in which a patient presents with pseudohyperkalemia as a result of a temperature-based abnormality in the transport of potassium (K) and sodium (Na) across the red cell membrane, in association with essentially normal hematology. PSHK can be considered to be the clinically benign, nonhemolytic cousin of hereditary stomatocytic leaky-cell, congenital hemolytic anemias (see 194380) (summary by Gore et al., 2002).
For a discussion of clinical and genetic heterogeneity of the hereditary stomatocytoses, see 194380.|OMIM|N|
C1836706|A rare hyperthyroidism characterized by mild to severe hyperthyroidism, presence of goiter, absence of features of autoimmunity, frequent relapses while on treatment and a positive family history.|ORDO|N|
C1836724|Posterior polymorphous corneal dystrophy-3 (PPCD3) is a rare disorder involving metaplasia and overgrowth of corneal endothelial cells (Krafchak et al., 2005). In patients with PPCD, these cells manifest in an epithelial morphology and gene expression pattern, produce an aberrant basement membrane, and sometimes spread over the iris and nearby structures in a way that increases the risk for glaucoma. Symptoms range from very aggressive to asymptomatic and nonprogressive, even within the same family. The age of diagnosis is most often in the second or third decade of life.
PPCD3 is often associated with corneal steepening, and some patients may be diagnosed with keratoconus before PPCD (Fernandez-Gutierrez et al., 2023). Retrocorneal membranes have been reported, sometimes extending onto the lens (Moroi et al., 2003).
For a discussion of genetic heterogeneity of posterior polymorphous corneal dystrophy, see PPCD1 (122000).|OMIM|N|
C1836727|PCWH syndrome is a complex neurocristopathy that includes features of 4 distinct syndromes: peripheral demyelinating neuropathy (see 118200), central dysmyelination, Waardenburg syndrome, and Hirschsprung disease (see 142623) (Inoue et al., 2004). Inoue et al. (2004) proposed the acronym PCWH for this disorder.|OMIM|N|
C1836736|White color (lack of pigmentation) of the eyelashes.|HPO|N|
C1836737|White color (lack of pigmentation) of the eyebrow.|HPO|N|
C1836742|Lack of measurable response to stimulation of auditory evoked potentials.|HPO|N|
C1836743|Auditory neuropathy is a type of hearing loss defined by the preservation of cochlear outer hair cell function and abnormal or absent auditory brainstem responses. Auditory neuropathy may accompany peripheral neuropathy in a variety of dominant syndromes such as Charcot-Marie-Tooth disease (Satya-Murti et al., 1979) and has been observed in Friedreich ataxia (Satya-Murti et al., 1980). Auditory neuropathy unassociated with peripheral neuropathy most commonly occurs as a sporadic or recessive trait; see, for example, 601071.
Genetic Heterogeneity of Autosomal Dominant Auditory Neuropathy
See also AUNA2 (620384), caused by mutation in the ATP11A gene (605868) on chromosome 13q34, and AUNA3 (619832), caused by mutation in the TMEM43 gene (612048) on chromosome 3p25.|OMIM|N|
C1836752|A type of hearing impairment prominently characterized by a difficulty in understanding speech, rather than an inability to hear speech. Poor speech discrimination is a very common symptom of high frequency hearing loss.|HPO|N|
C1836756|Distal arthrogryposis type 4 (DA4) is distinguished by the presence of scoliosis (summary by Bamshad et al., 2009).
For a phenotypic description and a discussion of genetic heterogeneity of distal arthrogryposis, see DA1 (108120).|OMIM|N|
C1836757|Rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death. Several risk factors such as smoking, hypertension, and excessive alcohol intake are associated with subarachnoid hemorrhage (summary by Krischek and Inoue, 2006).
For a discussion of genetic heterogeneity of intracranial berry aneurysm, see ANIB1 (105800).|OMIM|N|
C1836765|Autosomal dominant limb-girdle muscular dystrophy-3 (LGMDD3) is characterized by slowly progressive proximal muscle weakness affecting the upper and lower limbs. Onset is usually in adulthood, but can occur during the teenage years. Affected individuals may also develop cataracts before age 50 (summary by Vieira et al., 2014).
For a phenotypic description and a discussion of genetic heterogeneity of autosomal dominant limb-girdle muscular dystrophy, see LGMDD1 (603511).|OMIM|N|
C1836767|Muscular atrophy affecting proximally located muscles of the legs, i.e., of the thigh.|HPO|N|
C1836778|Individuals with high altitude adaptation hemoglobin can survive in extremely hypoxic conditions without an increase in hematocrit or the development of erythrocytosis or polycythemia vera (summary by Lorenzo et al., 2014).|OMIM|N|
C1836780|Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome is characterized by neonatal diabetes mellitus associated with cerebellar and/or pancreatic agenesis.|ORDO|N|
C1836791|Excessive bending, twisting, and winding of a cerebral artery.|HPO|N|
C1836797|Combined oxidative phosphorylation deficiency is an autosomal recessive multisystem disorder with variable manifestations resulting from a defect in the mitochondrial oxidative phosphorylation (OXPHOS) system. Onset occurs at or soon after birth, and features can include growth retardation, microcephaly, hypertonicity, axial hypotonia, encephalopathy, cardiomyopathy, and liver dysfunction. Death usually occurs in the first weeks or years of life (summary by Smits et al., 2011).
Genetic Heterogeneity of Combined Oxidative Phosphorylation Deficiency
See also COXPD2 (610498), caused by mutation in the MRPS16 gene (609204) on 10q22; COXPD3 (610505), caused by mutation in the TSFM gene (604723) on 12q14; COXPD4 (610678), caused by mutation in the TUFM gene (602389) on 16p11; COXPD5 (611719), caused by mutation in the MRPS22 gene (605810) on 3q23; COXPD6 (300816), caused by mutation in the AIFM1 gene (300169) on Xq26; COXPD7 (613559), caused by mutation in the MTRFR gene (613541) on 12q24; COXPD8 (614096), caused by mutation in the AARS2 gene (612035) on 6p21; COXPD9 (614582), caused by mutation in the MRPL3 gene (607118) on 3q22; COXPD10 (614702), caused by mutation in the MTO1 gene (614667) on 6q13; COXPD11 (614922), caused by mutation in the RMND1 gene (614917) on 6q25; COXPD12 (614924), caused by mutation in the EARS2 gene (612799) on 16p13; COXPD13 (614932), caused by mutation in the PNPT1 gene (610316) on 2p16; COXPD14 (614946), caused by mutation in the FARS2 gene (611592) on 6p25; COXPD15 (614947), caused by mutation in the MTFMT gene (611766) on 15q; COXPD16 (615395), caused by mutation in the MRPL44 gene (611849) on 2q36; COXPD17 (615440), caused by mutation in the ELAC2 gene (605367) on 17p11; COXPD18 (615578), caused by mutation in the SFXN4 gene (615564) on 10q26; COXPD19 (615595), caused by mutation in the LYRM4 gene (613311) on 6p25; COXPD20 (615917), caused by mutation in the VARS2 gene (612802) on 6p21; COXPD21 (615918), caused by mutation in the TARS2 gene (612805) on 1q21; COXPD22 (616045), caused by mutation in the ATP5A1 gene (164360) on 18q12; COXPD23 (616198), caused by mutation in the GTPBP3 (608536) gene on 19p13; COXPD24 (616239), caused by mutation in the NARS2 gene (612803) on 11q14; COXPD25 (616430), caused by mutation in the MARS2 gene (609728) on 2q33; COXPD26 (616539), caused by mutation in the TRMT5 gene (611023) on 14q23; COXPD27 (616672), caused by mutation in the CARS2 gene (612800) on 13q34; COXPD28 (616794), caused by mutation in the SLC25A26 gene (611037) on 3p14; COXPD29 (616811), caused by mutation in the TXN2 gene (609063) on 22q12; COXPD30 (616974), caused by mutation in the TRMT10C gene (615423) on 3q12; and COXPD31 (617228), caused by mutation in the MIPEP gene (602241) on 13q12; COXPD32 (617664), caused by mutation in the MRPS34 gene (611994) on 16q13; COXPD33 (617713), caused by mutation in the C1QBP gene (601269) on 17p13; and COXPD34 (617872), caused by mutation in the MRPS7 gene (611974) on 17q25; COXPD35 (617873), caused by mutation in the TRIT1 gene (617840) on 1p34; COXPD36 (617950), caused by mutation in the MRPS2 gene (611971) on 9q34; COXPD37 (618329), caused by mutation in the MICOS13 gene (616658) on 19p13; COXPD38 (618378), caused by mutation in the MRPS14 gene (611978) on 1q23; COXPD39 (618397), caused by mutation in the GFM2 gene (606544) on 5q13; COXPD40 (618835), caused by mutation in the QRSL1 gene (617209) on 6q21; COXPD41 (618838), caused by mutation in the GATB gene (603645) on 4q31; COXPD42 (618839), caused by mutation in the GATC gene (617210) on 12q24; COXPD43 (618851), caused by mutation in the TIMM22 gene (607251) on 17p13; COXPD44 (618855), caused by mutation in the FASTKD2 gene (612322) on 2q33; COXPD45 (618951), caused by mutation in the MRPL12 gene (602375) on 17q25; COXPD46 (618952), caused by mutation in the MRPS23 gene (611985) on 17q22; COXPD47 (618958), caused by mutation in the MRPS28 gene (611990) on 8q21; COXPD48 (619012), caused by mutation in the NSUN3 gene (617491) on 3q11; COXPD49 (619024), caused by mutation in the MIEF2 gene (615498) on 17p11; COXPD50 (619025), caused by mutation in the MRPS25 gene (611987) on 3p25; COXPD51 (619057), caused by mutation in the PTCD3 gene (614918) on 2p11; COXPD52 (619386), caused by mutation in the NFS1 gene (603485) on 20q11; COXPD53 (619423), caused by mutation in the C2ORF69 gene (619219) on 2q33; and COXPD54 (619737), caused by mutation in the PRORP gene (609947) on 14q13.; COXPD55 (619743), caused by mutation in the POLRMT gene (601778) on 19p13; COXPD56 (620139), caused by mutation in the TAMM41 gene (614948) on 3p25; COXPD57 (620167), caused by mutation in the CRLS1 gene (608188) on 20p12; COXPD58 (620451), caused by mutation in the TEFM gene (616422) on 17q11; and COXPD59 (620646), caused by mutation in the MRPL39 gene (611845) on 21q21.|OMIM|N|
C1836806|Decreased occipito-frontal (head) circumference (OFC). For the microcephaly OFC must be between -3 SD and -2 SD compared to appropriate, age matched, normal standards (i.e. -3 SD <= OFC < -2 SD).|HPO|N|
C1836823|Epidermolysis bullosa simplex (EBS) is characterized by fragility of the skin (and mucosal epithelia in some instances) that results in non-scarring blisters and erosions caused by minor mechanical trauma. EBS is distinguished from other types of epidermolysis bullosa (EB) or non-EB skin fragility syndromes by the location of the blistering in relation to the dermal-epidermal junction. In EBS, blistering occurs within basal keratinocytes. The severity of blistering ranges from limited to hands and feet to widespread involvement. Additional features can include hyperkeratosis of the palms and soles (keratoderma), nail dystrophy, milia, and hyper- and/or hypopigmentation. Rare EBS subtypes have been associated with additional clinical features including pyloric atresia, muscular dystrophy, cardiomyopathy, and/or nephropathy.|GeneReviews|N|
C1836824|Salt and pepper developmental regression syndrome, also known as Amish infantile epilepsy syndrome, is an autosomal recessive neurocutaneous disorder characterized by infantile onset of refractory and recurrent seizures associated with profoundly delayed psychomotor development and/or developmental regression as well as abnormal movements and visual loss (summary by Fragaki et al., 2013). Affected individuals develop hypo- or hyperpigmented skin macules on the trunk, face, and extremities in early childhood (summary by Boccuto et al., 2014). Not all patients have overt seizures (Lee et al., 2016).|OMIM|N|
C1836829|A cessation of the development of a child in the areas of motor skills, speech and language, cognitive skills, and social and/or emotional skills, following the onset of epilepsy.|HPO|N|
C1836830|Loss of developmental skills, as manifested by loss of developmental milestones.|HPO|N|
C1836835|Reduced intensity of muscle tendon reflexes in the upper limbs. Reflexes are elicited by stretching the tendon of a muscle, e.g., by tapping.|HPO|N|
C1836841|The neuronal ceroid lipofuscinoses (NCL; CLN) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally. The clinical course includes progressive dementia, seizures, and progressive visual failure (Mole et al., 2005).
For a discussion of genetic heterogeneity of neuronal ceroid lipofuscinosis, see CLN1 (256730).|OMIM|N|
C1836842|Loss of previously present mental and motor abilities.|HPO|N|
C1836843|Inability to walk in a person who previous had the ability to walk.|HPO|N|
C1836851|An intracellular accumulation of autofluorescent lipopigment storage material in a trabecular or fingerprint-like pattern.|HPO|N|
C1836852|An intracellular accumulation of autofluorescent lipopigment storage material in a curved pattern.|HPO|N|
C1836855|The presence of clear, sharply defined vacuoles in the lymphocyte cytoplasm.|HPO|N|
C1836860|Fanconi anemia (FA) is characterized by physical abnormalities, bone marrow failure, and increased risk for malignancy. Physical abnormalities, present in approximately 75% of affected individuals, include one or more of the following: short stature, abnormal skin pigmentation, skeletal malformations of the upper and/or lower limbs, microcephaly, and ophthalmic and genitourinary tract anomalies. Progressive bone marrow failure with pancytopenia typically presents in the first decade, often initially with thrombocytopenia or leukopenia. The incidence of acute myeloid leukemia is 13% by age 50 years. Solid tumors – particularly of the head and neck, skin, and genitourinary tract – are more common in individuals with FA.|GeneReviews|N|
C1836861|Fanconi anemia (FA) is characterized by physical abnormalities, bone marrow failure, and increased risk for malignancy. Physical abnormalities, present in approximately 75% of affected individuals, include one or more of the following: short stature, abnormal skin pigmentation, skeletal malformations of the upper and/or lower limbs, microcephaly, and ophthalmic and genitourinary tract anomalies. Progressive bone marrow failure with pancytopenia typically presents in the first decade, often initially with thrombocytopenia or leukopenia. The incidence of acute myeloid leukemia is 13% by age 50 years. Solid tumors – particularly of the head and neck, skin, and genitourinary tract – are more common in individuals with FA.|GeneReviews|N|
C1836862|The spondylometaphyseal dysplasias are a relatively common, heterogeneous group of disorders characterized by spinal and metaphyseal changes of variable pattern and severity. The classification of spondylometaphyseal dysplasias of Maroteaux and Spranger (1991) was based on changes of the femoral neck and the shape of vertebral anomalies. In this classification, type A4 referred to a form with severe metaphyseal changes of the femoral neck and ovoid, flattened vertebral bodies with anterior tongue-like deformities.|OMIM|N|
C1836868|Increased width of the ischium, which forms the lower and back part of the hip bone.|HPO|N|
C1836870|An alteration of the normally relatively smooth margins of the kneecap in radiographic images leading to an irregular contour.|HPO|N|
C1836872|Reduction in bone mineral density affecting any or all of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones.|HPO|N|
C1836873|Decrease in mass and density of the metatarsal bones.|HPO|N|
C1836876|Pierson syndrome (PIERS) is an autosomal recessive disorder comprising congenital nephrotic syndrome with diffuse mesangial sclerosis and distinct ocular abnormalities, including microcoria and hypoplasia of the ciliary and pupillary muscles, as well as other anomalies. Many patients die early, and those who survive tend to show neurodevelopmental delay and visual loss (summary by Zenker et al., 2004).
Mutations in the LAMB2 gene also cause nephrotic syndrome type 5 with or without mild ocular anomalies (NPHS5; 614199).|OMIM|N|
C1836890|Underdevelopment of the ciliary body.|HPO|N|
C1836892|Malignant melanoma is a neoplasm of pigment-producing cells called melanocytes that occurs most often in the skin, but may also occur in the eyes, ears, gastrointestinal tract, leptomeninges, and oral and genital mucous membranes (summary by Habif, 2010).
For a discussion of genetic heterogeneity of malignant melanoma, see 155600.|OMIM|N|
C1836899|A rare pure or complex hereditary spastic paraplegia with characteristics of variable onset of slowly progressive lower limb spasticity, hyperreflexia and extensor plantar responses, that may be associated with sensorimotor polyneuropathy, decreased vibration sense, lower limb distal muscle wasting, dysarthria and mild to moderate intellectual disability.|SNOMEDCT_US|N|
C1836906|Arrhythmogenic right ventricular cardiomyopathy (ARVC) – previously referred to as arrhythmogenic right ventricular dysplasia (ARVD) – is characterized by progressive fibrofatty replacement of the myocardium that predisposes to ventricular tachycardia and sudden death in young individuals and athletes. It primarily affects the right ventricle, and it may also involve the left ventricle. The presentation of disease is highly variable even within families, and some affected individuals may not meet established clinical criteria. The mean age at diagnosis is 31 years (±13; range: 4-64 years).|GeneReviews|N|
C1836907|Narcolepsy is a chronic sleep disorder that disrupts the normal sleep-wake cycle. Although this condition can appear at any age, it most often begins in adolescence.\n\nSome people with narcolepsy have all of the major features of the disorder, while others have only one or two. Most of the signs and symptoms persist throughout life, although episodes of cataplexy may become less frequent with age and treatment.\n\nNarcolepsy is characterized by excessive daytime sleepiness. Affected individuals feel tired during the day, and several times a day they may experience an overwhelming urge to sleep. "Sleep attacks" can occur at unusual times, such as during a meal or in the middle of a conversation. They last from a few seconds to a few minutes and often lead to a longer nap, after which affected individuals wake up feeling refreshed.\n\nAnother common feature of narcolepsy is cataplexy, which is a sudden loss of muscle tone in response to strong emotion (such as laughing, surprise, or anger). These episodes of muscle weakness can cause an affected person to slump over or fall, which occasionally leads to injury. Episodes of cataplexy usually last just a few seconds, and they may occur from several times a day to a few times a year. Most people diagnosed with narcolepsy also have cataplexy. However, some do not, which has led researchers to distinguish two major forms of the condition: narcolepsy with cataplexy and narcolepsy without cataplexy.\n\nNarcolepsy also affects nighttime sleep. Most affected individuals have trouble sleeping for more than a few hours at night. They often experience vivid hallucinations while falling asleep (hypnogogic hallucinations) or while waking up (hypnopompic hallucinations). Affected individuals often have realistic and distressing dreams, and they may act out their dreams by moving excessively or talking in their sleep. Many people with narcolepsy also experience sleep paralysis, which is an inability to move or speak for a short period while falling asleep or awakening. The combination of hallucinations, vivid dreams, and sleep paralysis is often frightening and unpleasant for affected individuals.|MedlinePlus Genetics|N|
C1836916|Posterior column ataxia with retinitis pigmentosa (AXPC1) is an autosomal recessive neurologic disorder characterized by childhood-onset retinitis pigmentosa and later onset of gait ataxia due to sensory loss (summary by Ishiura et al., 2011).|OMIM|N|
C1836923|Abnormal intestinal contractions, such as spasms and intestinal paralysis, related to the loss of the ability of the gut to coordinate muscular activity because of endogenous or exogenous causes.|HPO|N|
C1836926|Pigment migration into the retina in a bone-spicule configuration (resembling the nucleated cells within the lacuna of bone).|HPO|N|
C1836929|Emanuel syndrome is characterized by pre- and postnatal growth deficiency, microcephaly, hypotonia, severe developmental delays, ear anomalies, preauricular tags or pits, cleft or high-arched palate, congenital heart defects, kidney abnormalities, and genital abnormalities in males.|GeneReviews|N|
C1836933|Placement of the nipples at a lower than normal location.|HPO|N|
C1836940|A thickening of the skin thickness in the posterior aspect of the fetal neck. A nuchal fold (NF) measurement is obtained in a transverse section of the fetal head at the level of the cavum septum pellucidum and thalami, angled posteriorly to include the cerebellum. The measurement is taken from the outer edge of the occiput bone to the outer skin limit directly in the midline. An NF measurement greater than 5 mm at 14 to 17+6 weeks of gestation, or 6 mm at 18 to 28 weeks has been associated with a markedly increased risk for Down syndrome.|HPO|N|
C1836942|Age-related cataracts are one of the leading causes of visual impairment and blindness among the elderly worldwide. Among age-related cataracts, cortical opacities rank as the second most common type (Iyengar et al., 2004).
The preferred title/symbol of this entry was formerly 'Cataract, Age-Related Cortical, 1; ARCC1.'|OMIM|N|
C1836996|A tall and slim body build with increased arm span to height ratio (>1.05) and a reduced upper-to-lower segment ratio (<0.85), i.e., unusually long arms and legs. The extremities as well as the hands and feet are unusually slim.|HPO|N|
C1837007|Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ESPN gene.|MONDO|N|
C1837014|Atrial fibrillation (AF) is the most common sustained cardiac rhythm disturbance, affecting more than 2 million Americans, with an overall prevalence of 0.89%. The prevalence increases rapidly with age, to 2.3% between the ages of 40 and 60 years, and to 5.9% over the age of 65. The most dreaded complication is thromboembolic stroke (Brugada et al., 1997).
For a discussion of genetic heterogeneity of atrial fibrillation, see 608583.|OMIM|N|
C1837015|Autosomal dominant sensory ataxia-1 (SNAX1) is a peripheral neuropathy resulting from the degeneration of dorsal root ganglia that affects both central and peripheral neurites of sensory neurons. Affected individuals show adult onset of slowly progressive clumsiness, gait ataxia, walking difficulties, and distal sensory loss which may be associated with abnormal sensory nerve conduction values. Some patients have vestibular ocular dysfunction. Muscle weakness and atrophy are not observed, and brain imaging is normal (summary by Cortese et al., 2020).|OMIM|N|
C1837026|WT1 disorder is characterized by congenital/infantile or childhood onset of steroid-resistant nephrotic syndrome (SRNS), a progressive glomerulopathy that does not respond to standard steroid therapy. Additional common findings can include disorders of testicular development (with or without abnormalities of the external genitalia and/or müllerian structures) and Wilms tumor. Less common findings are congenital anomalies of the kidney and urinary tract (CAKUT) and gonadoblastoma. While various combinations of renal and other findings associated with a WT1 pathogenic variant were designated as certain syndromes in the past, those designations are now recognized to be part of a phenotypic continuum and are no longer clinically helpful.|GeneReviews|N|
C1837028|An autosomal recessive severe combined immunodeficiency, the phenotype of which is caused by mutation(s) in the IL7R or PTPRC genes, encoding interleukin-7 receptor subunit alpha and receptor-type tyrosine-protein phosphatase C (CD45) respectively.|NCI|N|
C1837029|Butterfly-shaped pigmentary macular dystrophy is an autosomal dominant eye disease characterized by bilateral accumulation of pigment in the macular area that resembles the wings of a butterfly (summary by van Lith-Verhoeven et al., 2003).
For a general phenotypic description and a discussion of genetic heterogeneity of patterned macular dystrophy, see 169150.|OMIM|N|
C1837065|Immunodeficiency-116 (IMD116) is an autosomal recessive immunologic disorder characterized by the onset of recurrent upper and lower respiratory tract infections in infancy or early childhood. Laboratory studies show absence of CD8+ T cells, whereas other lymphocyte numbers and immunoglobulin levels are normal (Dumontet et al., 2015).|OMIM|N|
C1837066|Increased susceptibility to viral infections, as manifested by recurrent episodes of viral infection.|HPO|N|
C1837073|Spondylometaphyseal dysplasia with cone-rod dystrophy (SMDCRD) is characterized by postnatal growth deficiency resulting in profound short stature, rhizomelia with bowing of the lower extremities, platyspondyly with anterior vertebral protrusions, progressive metaphyseal irregularity and cupping with shortened tubular bones, and early-onset progressive visual impairment associated with a pigmentary maculopathy and electroretinographic evidence of cone-rod dysfunction (summary by Hoover-Fong et al., 2014).
Yamamoto et al. (2014) reviewed 16 reported cases of SMDCRD, noting that all affected individuals presented uniform skeletal findings, with rhizomelia and bowed lower limbs observed in the first year of life, whereas retinal dystrophy had a more variable age of onset. There was severe disproportionate short stature, with a final height of less than 100 cm; scoliosis was usually mild. Visual loss was progressive, with stabilization in adolescence.|OMIM|N|
C1837081|A bending or abnormal curvature of the tibia.|HPO|N|
C1837082|Metaphyseal cupping refers to an inward bulging of the metaphyseal profile giving the metaphysis a cup-like appearance.|HPO|N|
C1837084|Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal.|HPO|N|
C1837091|Congenital myasthenic syndrome associated with AChR deficiency is a disorder of the postsynaptic neuromuscular junction (NMJ) clinically characterized by early-onset muscle weakness with variable severity. Electrophysiologic studies show low amplitude of the miniature endplate potential (MEPP) and current (MEPC) resulting from deficiency of AChR at the endplate. Patients with mutations in the CHRNE gene may have compensatory increased expression of the fetal subunit CHRNG (100730) and may respond to treatment with cholinergic agents, pyridostigmine, or amifampridine (summary by Engel et al., 2015).
For a discussion of genetic heterogeneity of CMS, see CMS1A (601462).|OMIM|N|
C1837098|Increased susceptibility to fatigue.|HPO|N|
C1837142|An inadequate sucking reflex, resulting in the difficult of newborns to be breast-fed.|HPO|N|
C1837148|Myopia, or nearsightedness, is a refractive error of the eye. Light rays from a distant object are focused in front of the retina and those from a near object are focused in the retina; therefore distant objects are blurry and near objects are clear (summary by Kaiser et al., 2004).
For a discussion of genetic heterogeneity of susceptibility to myopia, see 160700.|OMIM|N|
C1837153|More than two-thirds of all individuals with ADHD have additional conditions, including insomnia, mood or anxiety disorders, learning disorders, or substance use disorders. Affected individuals may also have autism spectrum disorder, which is characterized by impaired communication and social interaction, or Tourette syndrome, which is a disorder characterized by repetitive and involuntary movements or noises called tics.\n\nImpulsivity can result in hasty actions without thought for the consequences. Individuals with poor impulse control may have difficulty waiting for their turn, deferring to others, or considering their actions before acting.\n\nHyperactivity is usually shown by frequent movement. Individuals with this feature often fidget or tap their foot when seated, leave their seat when it is inappropriate to do so (such as in the classroom), or talk a lot and interrupt others.\n\nIn most affected individuals, ADHD continues throughout life, but in about one-third of individuals, signs and symptoms of ADHD go away by adulthood.\n\nIn people with ADHD, the characteristic behaviors are frequent and severe enough to interfere with the activities of daily living such as school, work, and relationships with others. Because of an inability to stay focused on tasks, people with inattention may be easily distracted, forgetful, avoid tasks that require sustained attention, have difficulty organizing tasks, or frequently lose items.\n\nAttention-deficit/hyperactivity disorder (ADHD) is a behavioral disorder that typically begins in childhood and is characterized by a short attention span (inattention), an inability to be calm and stay still (hyperactivity), and poor impulse control (impulsivity). Some people with ADHD have problems with only inattention or with hyperactivity and impulsivity, but most have problems related to all three features.|MedlinePlus Genetics|N|
C1837159|Nortriptyline is a tricyclic that can be identified by the secondary amine in its chemical structure. Tricyclics are commonly prescribed for psychological disorders and pain management. Genetic variants in cytochrome P450 2D6 (CYP2D6) may affect treatment success of nortriptyline or other tricyclics with the secondary amine functional group. Patients with poor metabolizer variants of CYP2D6 may require reductions in dose or alternative agents in order to circumvent common adverse anticholinergic, central nervous system, or cardiac effects. Guidelines regarding the use of pharmacogenomic tests in dosing for nortriptyline and other tricyclics have been published in Clinical Pharmacology and Therapeutics by the Clinical Pharmacogenetics Implementation Consortium (CPIC) and are available on the PharmGKB website.|PharmGKB|N|
C1837160|Codeine, an opioid analgesic, is used for the treatment of pain. It is metabolized by cytochrome P450-2D6 (CYP2D6) to morphine, an active metabolite with pain-relief action. The CYP2D6 gene has many polymorphisms that result in different enzyme activities. An individual can be an ultrarapid, normal, intermediate, or poor metabolizer of codeine, based on their CYP2D6 genotype. The CYP2D6 ultrarapid phenotype is associated with a higher risk of severe toxicity when treated with codeine, due to increased metabolism of codeine and thus enhanced morphine formation. Conversely, the CYP2D6 poor metabolizer phenotype is associated with ineffective pain relief from codeine treatment due to reduced formation of morphine. Accordingly, therapeutic recommendations for codeine based on an individual’s CYP2D6 genotype have been published by the Clinical Pharmacogenetics Implementation Consortium (CPIC) in Clinical Pharmacology and Therapeutics and are available on the PharmGKB website.|PharmGKB|N|
C1837173|Any coronary artery disease in which the cause of the disease is a mutation in the KALRN gene.|MONDO|N|
C1837174|Secretion of the contents of cytolytic granules at the immunologic synapse is a highly regulated process essential for lymphocyte cytotoxicity. This process requires the rapid transfer of perforin (170280)-containing lytic granules to the target cell interface, followed by their docking and fusion with the plasma membrane. Familial hemophagocytic lymphohistiocytosis is a genetically heterogeneous condition characterized by defective cytotoxicity. For a more detailed description of FHL, see 267700.|OMIM|N|
C1837187|Age-related macular degeneration-3 (ARMD3) is characterized by numerous small round yellow lesions visible at the temporal edge of the macula. Larger, less distinct yellow areas near the center of the macula are also observed, which represent areas of pigment epithelial detachment (Stone et al., 2004).
For a phenotypic description and a discussion of genetic heterogeneity of age-related macular degeneration, see 603075.|OMIM|N|
C1837203|Waardenburg syndrome is a group of genetic conditions that can cause hearing loss and changes in coloring (pigmentation) of the hair, skin, and eyes. Although most people with Waardenburg syndrome have normal hearing, moderate to profound hearing loss can occur in one or both ears. The hearing loss is present from birth (congenital). People with this condition often have very pale blue eyes or different colored eyes, such as one blue eye and one brown eye. Sometimes one eye has segments of two different colors. Distinctive hair coloring (such as a patch of white hair or hair that prematurely turns gray) is another common sign of the condition.  The features of Waardenburg syndrome vary among affected individuals, even among people in the same family.\n\nThere are four recognized types of Waardenburg syndrome, which are distinguished by their physical characteristics and sometimes by their genetic cause. Types I and II have very similar features, although people with type I almost always have eyes that appear widely spaced and people with type II do not. In addition, hearing loss occurs more often in people with type II than in those with type I. Type III (sometimes called Klein-Waardenburg syndrome) includes abnormalities of the arms and hands in addition to hearing loss and changes in pigmentation. Type IV (also known as Waardenburg-Hirschsprung disease or Waardenburg-Shah syndrome) has signs and symptoms of both Waardenburg syndrome and Hirschsprung disease, an intestinal disorder that causes severe constipation or blockage of the intestine.|MedlinePlus Genetics|N|
C1837206|Stomatin-deficient cryohydrocytosis with neurologic defects is an autosomal dominant disorder characterized by delayed psychomotor development, seizures, cataracts, and pseudohyperkalemia resulting from defects in the red blood cell membrane. The disorder combines the neurologic features of Glut1 deficiency syndrome-1 (GLUT1DS1; 606777), resulting from impaired glucose transport at the blood-brain barrier, and hemolytic anemia/pseudohyperkalemia with stomatocytosis, resulting from a cation leak in erythrocytes (summary by Bawazir et al., 2012).
For a discussion of clinical and genetic heterogeneity of red cell stomatocyte disorders, see 194380.|OMIM|N|
C1837210|Any orofacial cleft in which the cause of the disease is a mutation in the MSX1 gene.|MONDO|N|
C1837213|Orofacial cleft-6 (OFD6) is characterized by isolated cleft lip or cleft palate or by cleft lip and cleft palate (Rahimov et al., 2008; Pan et al., 2010).
For a phenotypic description and a discussion of genetic heterogeneity of nonsyndromic CL/P, see 119530.|OMIM|N|
C1837217|Isolated cleft lip is a fissure type embryopathy extending from the upper lip to the nasal base.|ORPHANET|N|
C1837218|Cleft palate as an isolated malformation behaves as an entity distinct from cleft lip with or without cleft palate (see 119530).
Dominantly inherited cleft soft palate in 4 generations has been reported (Jenkins and Stady, 1980); see 119570.|OMIM|N|
C1837229|MDDGB6 is an autosomal recessive congenital muscular dystrophy with impaired intellectual development and structural brain abnormalities (Longman et al., 2003). It is part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1; 128239), collectively known as  'dystroglycanopathies' (Mercuri et al., 2009).
For a discussion of genetic heterogeneity of congenital muscular dystrophy-dystroglycanopathy type B, see MDDGB1 (613155).|OMIM|N|
C1837245|Carney complex-trismus-pseudocamptodactyly syndrome is a rare genetic heart-hand syndrome characterized by typical manifestations of the Carney complex (spotty pigmentation of the skin, familial cardiac and cutaneous myxomas and endocrinopathy) associated with trismus and distal arthrogryposis (presenting as involuntary contraction of distal and proximal interphalangeal joints of hands evident only on dorsiflexion of wrist and similar lower-limb contractures producing foot deformities).|ORDO|N|
C1837246|The presence of calcium deposition in the cerebral white matter surrounding the cerebral ventricles.|HPO|N|
C1837247|Cerebral hemorrhage that occurs before birth.|HPO|N|
C1837249|An abnormality resulting from an anomaly of neuronal migration, i.e., of the process by which neurons travel from their origin to their final position in the brain.|HPO|N|
C1837256|A form of hepatic steatosis characterized by the presence of large, lipid-laden vesicles in the affected hepatocytes.|HPO|N|
C1837260|Forward prominence of the entire forehead, due to protrusion of the frontal bone.|HPO|N|
C1837262|An abnormal accumulation of lipids in skeletal muscle.|HPO|N|
C1837263|Lack of full passive range of motion (restrictions in flexion, extension, or other movements) of the knee joint resulting from structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules and/or skin.|HPO|N|
C1837273|An increase in the level of long-chain dicarboxylic acid in the urine.|HPO|N|
C1837279|Underdevelopment of the toenail.|HPO|N|
C1837285|Restless legs syndrome (RLS) is a neurologic sleep/wake disorder characterized by uncomfortable and unpleasant sensations in the legs that appear at rest, usually at night, inducing an irresistible desire to move the legs. The disorder results in nocturnal insomnia and chronic sleep deprivation (Bonati et al., 2003).
For additional information and a discussion of genetic heterogeneity of restless legs syndrome, see RLS1 (102300).|OMIM|N|
C1837315|Any colorectal cancer in which the cause of the disease is a mutation in the GALNT12 gene.|MONDO|N|
C1837316|Metaphyseal undermodeling, spondylar dysplasia, and overgrowth is a distinctive overgrowth syndrome with excessive endochondral bone growth. The disorder demonstrates severe pre- and postnatal overgrowth, facial dysmorphism, kyphoscoliosis, joint contractures, large hands and feet, and umbilical hernia. Skeletal features include thickened skull base, spondylar dysplasia, broad metaphyses, and advanced bone age. Patients have a suppressed GH (139250)-IGF (147440) axis (summary by Handa et al., 2017).|OMIM|N|
C1837317|Alpha-B crystallin-related myofibrillar myopathy is an autosomal dominant muscular disorder characterized by adult onset of progressive muscle weakness affecting both the proximal and distal muscles and associated with respiratory insufficiency, cardiomyopathy, and cataracts. There is phenotypic variability both within and between families (Fardeau et al., 1978; Selcen and Engel, 2003).
A homozygous founder mutation in the CRYAB gene has been identified in Canadian aboriginal infants of Cree origin who have a severe fatal infantile hypertonic form of myofibrillar myopathy; see 613869.
For a phenotypic description and a discussion of genetic heterogeneity of myofibrillar myopathy, see MFM1 (601419).|OMIM|N|
C1837323|Decreased intensity of the Achilles reflex (also known as the ankle jerk reflex), which can be elicited by tapping the tendon is tapped while the foot is dorsiflexed.|HPO|N|
C1837341|The more common form of transposition of the great arteries, dextro-looped TGA, consists of complete inversion of the great vessels, so that the aorta incorrectly arises from the right ventricle and the pulmonary artery incorrectly arises from the left ventricle. (In the less common type of TGA, levo-looped TGA, the ventricles are inverted instead) (Goldmuntz et al., 2002). This creates completely separate pulmonary and systemic circulatory systems, an arrangement that is incompatible with life. Patients with TGA often have atrial and/or ventricular septal defects or other types of shunting that allow some mixing between the circulations in order to support life minimally, but surgical intervention is always required.|OMIM|N|
C1837342|A form of limb-girdle muscular dystrophy that usually has a childhood onset (but can range from the first to third decade of life) of severe progressive proximal weakness, eventually involving the distal muscles. Some patients may remain ambulatory but most are wheelchair dependant 20 years after onset. Caused by homozygous mutation in the titin gene (TTN).|SNOMEDCT_US|N|
C1837355|Pelizaeus-Merzbacher-like disease 1 (PMLD1) is a slowly progressive leukodystrophy that typically presents during the neonatal or early-infantile period with nystagmus, commonly associated with hypotonia, delayed acquisition of motor milestones, speech delay, and dysarthria. Over time the hypotonia typically evolves into spasticity that affects the ability to walk and communicate. Cerebellar signs (gait ataxia, dysmetria, intention tremor, head titubation, and dysdiadochokinesia) frequently manifest during childhood. Some individuals develop extrapyramidal movement abnormalities (choreoathetosis and dystonia). Hearing loss and optic atrophy are observed in rare cases. Motor impairments can lead to swallowing difficulty and orthopedic complications, including hip dislocation and scoliosis. Most individuals have normal cognitive skills or mild intellectual disability – which, however, can be difficult to evaluate in the context of profound motor impairment.|GeneReviews|N|
C1837371|Sudden infant death with dysgenesis of the testes syndrome (SIDDT) is characterized by sudden cardiac or respiratory arrest, disordered testicular development, and neurologic dysfunction, and is uniformly fatal before 1 year of age (Slater et al., 2020).|OMIM|N|
C1837388|An anomaly of the rhythm or depth of breathing.|HPO|N|
C1837396|Congenital disorders of glycosylation (CDGs) are metabolic deficiencies in glycoprotein biosynthesis that usually cause severe mental and psychomotor retardation. Different forms of CDGs can be recognized by altered isoelectric focusing (IEF) patterns of serum transferrin.
For a general discussion of CDGs, see CDG Ia (212065) and CDG Ib (602579).|OMIM|N|
C1837397|A severe delay in the achievement of motor or mental milestones in the domains of development of a child.|HPO|N|
C1837402|Reduced convexity of the occiput (posterior part of skull).|HPO|N|
C1837404|The presence of a high and narrow palate.|HPO|N|
C1837406|Arm shortening because of underdevelopment of one or more bones of the upper extremity.|HPO|N|
C1837418|In moyamoya disease, stenosis of the intracranial portion of the internal carotid artery leads to secondary establishment of intracranial compensatory anastomoses at different levels (leptomeninges, basal ganglia, and transdural) (summary by Sakurai et al., 2004).
For a general phenotypic description and a discussion of genetic heterogeneity of moyamoya disease, see MYMY1 (252350).|OMIM|N|
C1837422|Otosclerosis is caused by abnormal bone homeostasis of the otic capsule leading to bony fixation of the stapedial footplate in the oval window. Because the transmission of sound waves from outer to inner ear is disturbed by this fixation, the disease is characterized by conductive hearing impairment. In some cases, an additional sensorineural component develops across all frequencies, leading to mixed hearing impairment (summary by Van Den Bogaert et al., 2004).
For a discussion of genetic heterogeneity of otosclerosis, see OTSC1 (166800).|OMIM|N|
C1837429|Pyruvate dehydrogenase phosphatase deficiency (PDHPD) is an autosomal recessive disorder of pyruvate metabolism characterized by neonatal/infantile and childhood lactic acidosis, normal lactate to pyruvate ratio, elevated plasma alanine, delayed psychomotor development, epileptic encephalopathy, and hypotonia (summary by Bedoyan et al., 2019).
For a general phenotypic description and a discussion of genetic heterogeneity of pyruvate dehydrogenase (PDH) deficiency, see 312170.|OMIM|N|
C1837434|Asperger syndrome is considered to be a form of childhood autism (see, e.g., 209850). The DSM-IV (American Psychiatric Association, 1994) specifies several diagnostic criteria for Asperger syndrome, which has many of the same features as autism. In general, patients with Asperger syndrome and autism exhibit qualitative impairment in social interaction, as manifest by impairment in the use of nonverbal behaviors such as eye-to-eye gaze, facial expression, body postures, and gestures, failure to develop appropriate peer relationships, and lack of social sharing or reciprocity. Patients also exhibit restricted, repetitive and stereotyped patterns of behavior, interests, and activities, including abnormal preoccupation with certain activities and inflexible adherence to routines or rituals. Asperger syndrome is primarily distinguished from autism by the higher cognitive abilities and a more normal and timely development of language and communicative phrases. Gillberg et al. (2001) described the development of the Asperger syndrome (and high-functioning autism) Diagnostic Interview (ASDI), which they claimed has a strong validity in the diagnosis of the disorder.
For a discussion of genetic heterogeneity of Asperger syndrome, see ASPG1 (608638).|OMIM|N|
C1837454|SCA8 is a slowly progressive ataxia with onset typically in the third to fifth decade but with a range from before age one year to after age 60 years. Common initial manifestations are scanning dysarthria with a characteristic drawn-out slowness of speech and gait instability. Over the disease course other findings can include eye movement abnormalities (nystagmus, abnormal pursuit and abnormal saccades, and, rarely, ophthalmoplegia); upper motor neuron involvement; extrapyramidal signs; brain stem signs (dysphagia and poor cough reflex); sensory neuropathy; and cognitive impairment (e.g., executive dysfunction, psychomotor slowing and other features of cerebellar cognitive-affective disorder in some). Life span is typically not shortened.|GeneReviews|N|
C1837458|An impairment of the ability to track objects with the ocular smooth pursuit system, a class of rather slow eye movements that minimizes retinal target motion.|HPO|N|
C1837461|Idiopathic scoliosis, an abnormality of the vertebral column in which patients develop lateral curvature of the spine of at least 10 degrees, affects approximately 2 to 3% of the worldwide population and has a heritable component (summary by Bashiardes et al., 2004).
For a discussion of genetic heterogeneity of isolated scoliosis, see IS1 (181800).|OMIM|N|
C1837463|Bizygomatic (upper face) and bigonial (lower face) width are both more than 2 standard deviations below the mean (objective); or, an apparent reduction in the width of the upper and lower face (subjective).|HPO|N|
C1837471|Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYL3 gene.|MONDO|N|
C1837475|Insulin-like growth factor I deficiency (IGF1D) is characterized by severe pre- and postnatal growth failure, sensorineural deafness, and impaired motor and intellectual development (summary by Bonapace et al., 2003).|OMIM|N|
C1837481|The Borochowitz-Cormier-Daire type of spondyloepimetaphyseal dysplasia (SEMDBCD) is a rare type of autosomal recessive short-limb short-trunk dwarfism. Affected individuals have significant short stature with pronounced leg bowing, lumbar lordosis, and a waddling gait (summary by Borochowitz et al., 2004 and Shyamasundar et al., 2020).|OMIM|N|
C1837483|Wide, concave posterior rib end.|HPO|N|
C1837485|Flattening of the superior part of the acetabulum, which is a cup-shaped cavity at the base of the hipbone into which the ball-shaped head of the femur fits. The acetabular roof thereby appears horizontal rather than arched, as it normally does.|HPO|N|
C1837487|A general term that describes a congenital defect in the iliac wing resulting from abnormal development.|HPO|N|
C1837501|ASPM primary microcephaly (ASPM-MCPH) is characterized by: (1) significant microcephaly (below -3 SD for age) usually present at birth and always present before age one year and (2) the absence of other congenital anomalies. While developmental milestones are usually normal in young children, older children have variable levels of intellectual disability. Neurologic examination is usually normal except for mild spasticity. Seizures are not common.|GeneReviews|N|
C1837503|Reduced size of the cerebral cortex.|HPO|N|
C1837512|Concentration of the complement component C3 in the blood circulation below the lower limit of normal.|HPO|N|
C1837518|Spinocerebellar ataxia-25 (SCA25) is an autosomal dominant neurologic disorder characterized by the onset of lower limb ataxia resulting in gait difficulties in the first few decades of life, although later onset has been reported. Affected individuals often have upper limb involvement, dysarthria, scoliosis, abnormal eye movements, and sensory neuropathy with decreased reflexes. Some patients have sensorineural hearing loss. Brain imaging shows cerebellar atrophy. There is incomplete penetrance and variable expressivity, even within families (Barbier et al., 2022).
For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (164400).|OMIM|N|
C1837520|A complete loss of the ability to perceive vibration.|HPO|N|
C1837522|Reduced ability to perceive painful stimuli.|HPO|N|
C1837530|AICA-ribosiduria is characterized by severe to profound global neurodevelopmental impairment, severe visual impairment due to chorioretinal atrophy, ante-postnatal growth impairment, and severe scoliosis. Dysmorphic features include coarse facies and upturned nose. Early-onset epilepsy may occur. Less common features may include aortic coarctation, chronic hepatic cytolysis, minor genital malformations, and nephrocalcinosis (Ramond et al., 2020).|OMIM|N|
C1837532|Fusion of the labia minora as a result of labial adhesions resulting in vaginal obstruction.|HPO|N|
C1837541|Spinocerebellar ataxia type 20 (SCA20) is characterized by a slowly progressive ataxia and dysarthria. Approximately two thirds of those affected also display palatal tremor ("myoclonus") and/or abnormal phonation clinically resembling spasmodic adductor dysphonia. Dysarthria, which may be abrupt in onset, precedes the onset of ataxia in about two thirds of affected individuals, sometimes by a number of years. Hypermetric horizontal saccades (without nystagmus or disturbance of vestibulo-ocular reflex gain) are seen in about half of affected persons. Although minor pyramidal signs (brisk knee jerks, crossed adductor spread) may be seen, spasticity and extensor plantar responses are not. Cognition is normal. Clinical information is based on the findings in 16 personally examined affected members of a single Australian family of Anglo-Celtic descent.|GeneReviews|N|
C1837549|Spondylocostal dysostosis (SCDO), defined radiographically as multiple segmentation defects of the vertebrae (M-SDV) in combination with abnormalities of the ribs, is characterized clinically by: a short trunk in proportion to height; short neck; non-progressive mild scoliosis in most affected individuals, and occasionally, more significant scoliosis. Respiratory function in neonates may be compromised by reduced size of the thorax. By age two years lung growth may improve sufficiently to support relatively normal growth and development; however, even then life-threatening complications can occur, especially pulmonary hypertension in children with severely restricted lung capacity from birth. Males with SCDO appear to be at increased risk for inguinal hernia.|GeneReviews|N|
C1837552|A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. In the single family reported to date, CMT2L onset is between 15 and 33 years. Patients present with a symmetric distal weakness of legs and occasionally of the hands, absent or reduced tendon reflexes, distal legs sensory loss and frequently a pes cavus. Progression is slow.|ORDO|N|
C1837564|Intellectual disability-brachydactyly-Pierre Robin syndrome is a rare developmental defect during embryogenesis syndrome characterized by mild to moderate intellectual disability and phsychomotor delay, Robin sequence (incl. severe micrognathia and soft palate cleft) and distinct dysmorphic facial features (e.g. synophris, short palpebral fissures, hypertelorism, small, low-set, and posteriorly angulated ears, bulbous nose, long/flat philtrum, and bow-shaped upper lip). Skeletal anomalies, such as brachydactyly, clinodactyly, small hands and feet, and oral manifestations (e.g. bifid, short tongue, oligodontia) are also associated. Additional features reported include microcephaly, capillary hemangiomas on face and scalp, ventricular septal defect, corneal clouding, nystagmus and profound sensorineural deafness.|ORDO|N|
C1837602|An increased tendency to fractures following trauma, with fractures occurring without pain.|HPO|N|
C1837608|DFNB32 is characterized by prelingual progressive moderate to profound sensorineural deafness. Some affected men are infertile, and semen analysis has shown high percentages of immotile sperm with abnormal morphology (Imtiaz et al., 2018).|OMIM|N|
C1837609|An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 9p22-p21.|MONDO|N|
C1837610|Autosomal recessive congenital ichthyosis (ARCI) encompasses several forms of nonsyndromic ichthyosis. Although most neonates with ARCI are collodion babies, the clinical presentation and severity of ARCI may vary significantly, ranging from harlequin ichthyosis, the most severe and often fatal form, to lamellar ichthyosis (LI) and (nonbullous) congenital ichthyosiform erythroderma (CIE). These phenotypes are now recognized to fall on a continuum; however, the phenotypic descriptions are clinically useful for clarification of prognosis and management. Infants with harlequin ichthyosis are usually born prematurely and are encased in thick, hard, armor-like plates of cornified skin that severely restrict movement. Life-threatening complications in the immediate postnatal period include respiratory distress, feeding problems, and systemic infection. Collodion babies are born with a taut, shiny, translucent or opaque membrane that encases the entire body and lasts for days to weeks. LI and CIE are seemingly distinct phenotypes: classic, severe LI with dark brown, plate-like scale with no erythroderma and CIE with finer whiter scale and underlying generalized redness of the skin. Affected individuals with severe involvement can have ectropion, eclabium, scarring alopecia involving the scalp and eyebrows, and palmar and plantar keratoderma. Besides these major forms of nonsyndromic ichthyosis, a few rare subtypes have been recognized, such as bathing suit ichthyosis, self-improving collodion ichthyosis, or ichthyosis-prematurity syndrome.|GeneReviews|N|
C1837615|Primary ciliary dyskinesia-5 (CILD5) is an autosomal recessive disorder characterized by early onset of a progressive decline in lung function due to an inability to clear mucus and particles from the airways. Affected individuals have recurrent infections of the sinuses, ears, airways, and lungs. Sperm motility is also decreased. Individuals with CILD5 do not have situs inversus (summary by Olbrich et al., 2012).
For a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400).|OMIM|N|
C1837616|Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). The signs and symptoms of this condition are caused by abnormal cilia and flagella. Cilia are microscopic, finger-like projections that stick out from the surface of cells. They are found in the linings of the airway, the reproductive system, and other organs and tissues. Flagella are tail-like structures, similar to cilia, that propel sperm cells forward.\n\nIn the respiratory tract, cilia move back and forth in a coordinated way to move mucus towards the throat. This movement of mucus helps to eliminate fluid, bacteria, and particles from the lungs. Most babies with primary ciliary dyskinesia experience breathing problems at birth, which suggests that cilia play an important role in clearing fetal fluid from the lungs. Beginning in early childhood, affected individuals develop frequent respiratory tract infections. Without properly functioning cilia in the airway, bacteria remain in the respiratory tract and cause infection. People with primary ciliary dyskinesia also have year-round nasal congestion and a chronic cough. Chronic respiratory tract infections can result in a condition called bronchiectasis, which damages the passages, called bronchi, leading from the windpipe to the lungs and can cause life-threatening breathing problems.\n\nSome individuals with primary ciliary dyskinesia have abnormally placed organs within their chest and abdomen. These abnormalities arise early in embryonic development when the differences between the left and right sides of the body are established. About 50 percent of people with primary ciliary dyskinesia have a mirror-image reversal of their internal organs (situs inversus totalis). For example, in these individuals the heart is on the right side of the body instead of on the left. Situs inversus totalis does not cause any apparent health problems. When someone with primary ciliary dyskinesia has situs inversus totalis, they are often said to have Kartagener syndrome.\n\nApproximately 12 percent of people with primary ciliary dyskinesia have a condition known as heterotaxy syndrome or situs ambiguus, which is characterized by abnormalities of the heart, liver, intestines, or spleen. These organs may be structurally abnormal or improperly positioned. In addition, affected individuals may lack a spleen (asplenia) or have multiple spleens (polysplenia). Heterotaxy syndrome results from problems establishing the left and right sides of the body during embryonic development. The severity of heterotaxy varies widely among affected individuals.\n\nPrimary ciliary dyskinesia can also lead to infertility. Vigorous movements of the flagella are necessary to propel the sperm cells forward to the female egg cell. Because their sperm do not move properly, males with primary ciliary dyskinesia are usually unable to father children. Infertility occurs in some affected females and is likely due to abnormal cilia in the fallopian tubes.\n\nAnother feature of primary ciliary dyskinesia is recurrent ear infections (otitis media), especially in young children. Otitis media can lead to permanent hearing loss if untreated. The ear infections are likely related to abnormal cilia within the inner ear.\n\nRarely, individuals with primary ciliary dyskinesia have an accumulation of fluid in the brain (hydrocephalus), likely due to abnormal cilia in the brain.|MedlinePlus Genetics|N|
C1837617|An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 6p21.3.|MONDO|N|
C1837618|Primary ciliary dyskinesia (PCD; CILD) is an autosomal recessive disorder resulting from loss of normal ciliary function. Kartagener (pronounced KART-agayner) syndrome is characterized by the combination of primary ciliary dyskinesia and situs inversus, and occurs in approximately half of patients with ciliary dyskinesia. Since normal nodal ciliary movement in the embryo is required for normal visceral asymmetry, absence of normal ciliary movement results in a lack of definitive patterning; thus, random chance alone appears to determine whether the viscera take up the normal or reversed left-right position during embryogenesis. This explains why approximately 50% of patients, even within the same family, have situs inversus (summary by Afzelius, 1976; El Zein et al., 2003).
For a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia and the Kartagener syndrome, see CILD1 (244400).|OMIM|N|
C1837639|Episodes of reduced body termperature.|HPO|N|
C1837640|Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the GRHL2 gene.|MONDO|N|
C1837646|Asperger syndrome is considered to be a form of childhood autism (see, e.g., 209850). The DSM-IV (American Psychiatric Association, 1994) specifies several diagnostic criteria for Asperger syndrome, which has many of the same features as autism. In general, patients with Asperger syndrome and autism exhibit qualitative impairment in social interaction, as manifest by impairment in the use of nonverbal behaviors such as eye-to-eye gaze, facial expression, body postures, and gestures, failure to develop appropriate peer relationships, and lack of social sharing or reciprocity. Patients also exhibit restricted, repetitive and stereotyped patterns of behavior, interests, and activities, including abnormal preoccupation with certain activities and inflexible adherence to routines or rituals. Asperger syndrome is primarily distinguished from autism by the higher cognitive abilities and a more normal and timely development of language and communicative phrases. Gillberg et al. (2001) described the development of the Asperger syndrome (and high-functioning autism) Diagnostic Interview (ASDI), which they claimed has a strong validity in the diagnosis of the disorder.
Genetic Heterogeneity of Susceptibility to Asperger Syndrome
ASPG1 maps to chromosome 3q. Other autosomal loci include ASPG2 (608631) on chromosome 17p, ASPG3 (608781) on 1q21-q22, and ASPG4 (609954) on 3p24-p21.|OMIM|N|
C1837649|Difficulty to establish relations with others in a comparable social group (peers) that may be manifested in pehnomena such as not being able to initiative a conversation, undersand social cues, or to discuss shared interests. This feature is associated with poor integration within a community or group.|HPO|N|
C1837653|A need to strictly adhere to repetitive routines or patterns of behavior which are created by the environment. One becomes upset or distressed when their routines are disrupted or altered.|HPO|N|
C1837657|CHST3-related skeletal dysplasia is characterized by short stature of prenatal onset, joint dislocations (knees, hips, radial heads), clubfeet, and limitation of range of motion that can involve all large joints. Kyphosis and occasionally scoliosis with slight shortening of the trunk develop in childhood. Minor heart valve dysplasia has been described in several persons. Intellect and vision are normal.|GeneReviews|N|
C1837658|A type of motor delay characterized by a delay in acquiring the ability to control the large muscles of the body for walking, running, sitting, and crawling.|HPO|N|
C1837670|A progressive form of decreased height of the intervertebral disk.|HPO|N|
C1837697|Asperger syndrome is considered to be a form of childhood autism (see, e.g., 209850). The DSM-IV (American Psychiatric Association, 1994) specifies several diagnostic criteria for Asperger syndrome, which has many of the same features as autism. In general, patients with Asperger syndrome and autism exhibit qualitative impairment in social interaction, as manifest by impairment in the use of nonverbal behaviors such as eye-to-eye gaze, facial expression, body postures, and gestures, failure to develop appropriate peer relationships, and lack of social sharing or reciprocity. Patients also exhibit restricted, repetitive and stereotyped patterns of behavior, interests, and activities, including abnormal preoccupation with certain activities and inflexible adherence to routines or rituals. Asperger syndrome is primarily distinguished from autism by the higher cognitive abilities and a more normal and timely development of language and communicative phrases. Gillberg et al. (2001) described the development of the Asperger syndrome (and high-functioning autism) Diagnostic Interview (ASDI), which they claimed has a strong validity in the diagnosis of the disorder.
For a discussion of genetic heterogeneity of Asperger syndrome, see ASPG1 (608638).|OMIM|N|
C1837713|Classic Joubert syndrome (JS) is characterized by three primary findings: A distinctive cerebellar and brain stem malformation called the molar tooth sign (MTS). Hypotonia. Developmental delays. Often these findings are accompanied by episodic tachypnea or apnea and/or atypical eye movements. In general, the breathing abnormalities improve with age, truncal ataxia develops over time, and acquisition of gross motor milestones is delayed. Cognitive abilities are variable, ranging from severe intellectual disability to normal. Additional findings can include retinal dystrophy, renal disease, ocular colobomas, occipital encephalocele, hepatic fibrosis, polydactyly, oral hamartomas, and endocrine abnormalities. Both intra- and interfamilial variation are seen.|GeneReviews|N|
C1837728|A neurodegenerative disease with characteristics of progressive muscular paralysis reflecting degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem and spinal cord. Caused by heterozygous mutation in the VAPB gene on chromosome 20q13.|SNOMEDCT_US|N|
C1837731|A condition in which the helix is folded over to a greater degree than normal. That is, excessive curling of the helix edge, whereby the free edge is parallel to the plane of the ear.|HPO|N|
C1837732|Increased thickness of the helix of the ear.|HPO|N|
C1837733|Regional increase in the width (height) of the lateral eyebrow.|HPO|N|
C1837739|Hypertension is a significant risk factor for cardiac and renal disease, arteriosclerosis, retinopathy, and stroke. Systolic hypertension reflects an increase in the force of cardiac contraction, whereas diastolic hypertension reflects an increase in peripheral vascular resistance. Normalization of blood pressure is associated with reductions in morbidity and mortality related to end-organ damage.|OMIM|N|
C1837750|Oligodontia-cancer predisposition syndrome is a rare, genetic, odontologic disease characterized by congenital absence of six or more permanent teeth (excluding the third molars) in association with an increased risk for malignancies, ranging from gastrointestinal polyposis to early-onset colorectal cancer and/or breast cancer. Ectodermal dysplasia (manifesting with sparse hair and/or eyebrows) may also be associated.|ORDO|N|
C1837756|Mandibuloacral dysplasia with type B lipodystrophy (MADB) is a rare autosomal recessive disorder characterized by postnatal growth retardation, craniofacial anomalies such as mandibular hypoplasia, skeletal anomalies such as progressive osteolysis of the terminal phalanges and clavicles, and skin changes such as mottled hyperpigmentation and atrophy. The lipodystrophy is characterized by generalized loss of subcutaneous fat involving the face, trunk, and extremities. Some patients have a progeroid appearance. Metabolic complications associated with insulin resistance have been reported (Schrander-Stumpel et al., 1992; summary by Simha et al., 2003).
For a general phenotypic description of lipodystrophy associated with mandibuloacral dysplasia, see MADA (248370).|OMIM|N|
C1837757|Progressive bone resorption in the distal part of the clavicle.|HPO|N|
C1837761|Decreased width of the nasal ridge.|HPO|N|
C1837763|Reduced amount of adipose tissue in the region of the neck.|HPO|N|
C1837764|Loss (disappearance) of previously present subcutaneous fat tissue in arm or leg.|HPO|N|
C1837767|Loss of normal subcutaneous fat tissue in the face.|HPO|N|
C1837781|The presence of an abnormally increased amount of subcutaneous adipose tissue in the trunk of the body.|HPO|N|
C1837785|A condition in which superficial veins (i.e., veins just under the skin) are more conspicuous or noticable than normal.|HPO|N|
C1837795|Abnormally prominent umbilicus (belly button).|HPO|N|
C1837802|A decreased concentration of leptin in the blood.|HPO|N|
C1837805|A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy with onset associated with development of foot deformity and walking difficulties between the first and the eighth decades. Weakness and sensory loss involve primarily the legs and ankles, tendon reflexes are reduced. The disease has a slowly progressive course.|SNOMEDCT_US|N|
C1837809|Keratoconus is a bilateral, noninflammatory, slowly progressive, corneal ectasia that is a major cause of corneal transplant. Characteristically, the cornea becomes thin and conical, with myopia and irregular astigmatism that leads to vision impairment (summary by Brancati et al., 2004).
For a discussion of genetic heterogeneity of keratoconus, see 148300.|OMIM|N|
C1837811|Asthma-related traits include clinical symptoms of asthma, such as coughing, wheezing, and dyspnea; bronchial hyperresponsiveness (BHR) as assessed by methacholine challenge test; serum IgE levels; atopy; and atopic dermatitis (Laitinen et al., 2001; Illig and Wjst, 2002).
For a general phenotypic description and a discussion of genetic heterogeneity of asthma, see 600807.|OMIM|N|
C1837812|Atrial fibrillation is the most common sustained cardiac rhythm disturbance, affecting more than 2 million Americans, with an overall prevalence of 0.89%. The prevalence increases rapidly with age, to 2.3% between the ages of 40 and 60 years, and to 5.9% over the age of 65. The most dreaded complication is thromboembolic stroke (Brugada et al., 1997).
For a discussion of genetic heterogeneity of atrial fibrillation, see 608583.|OMIM|N|
C1837822|TXNL4A-related craniofacial disorders comprise a range of phenotypes that includes: isolated choanal atresia; choanal atresia with minor anomalies; and Burn-McKeown syndrome (BMKS), which is characterized by typical craniofacial features (bilateral choanal atresia/stenosis, short palpebral fissures, coloboma of the lower eyelids, prominent nasal bridge with widely spaced eyes, short philtrum, thin vermilion of the upper lip, and prominent ears). Hearing loss is common and cardiac defects and short stature have been reported. Intellectual disability is rare.|GeneReviews|N|
C1837826|A short discontinuity of the margin of the lower eyelid.|HPO|N|
C1837830|A rare congenital malformation syndrome characterized by ulnar hypoplasia associated with hypoplastic to absent fourth and/or fifth digits, fibular hypoplasia, short stature and facial dysmorphism.|ORDO|N|
C1837832|Underdevelopment of the ulna on only one side.|HPO|N|
C1837835|Bilateral clubfoot deformity.|HPO|N|
C1837836|Syndactyly with fusion of toes four and five.|HPO|N|
C1837839|Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the ABCC9 gene.|MONDO|N|
C1837845|The term 'sick sinus syndrome' encompasses a variety of conditions caused by sinus node dysfunction. The most common clinical manifestations are syncope, presyncope, dizziness, and fatigue. Electrocardiogram typically shows sinus bradycardia, sinus arrest, and/or sinoatrial block. Episodes of atrial tachycardias coexisting with sinus bradycardia ('tachycardia-bradycardia syndrome') are also common in this disorder. SSS occurs most often in the elderly associated with underlying heart disease or previous cardiac surgery, but can also occur in the fetus, infant, or child without heart disease or other contributing factors, in which case it is considered to be a congenital disorder (Benson et al., 2003).
Genetic Heterogeneity of Sick Sinus Syndrome
Sick sinus syndrome-2 (SSS2; 163800) is caused by mutation in the HCN4 gene (605206). Susceptibility to sick sinus syndrome-3 (SSS3; 614090) is influenced by variation in the MYH6 gene (160710). Sick sinus syndrome-4 (SSS4; 619464) is caused by mutation in the GNB2 gene (139390).|OMIM|N|
C1837847|The P wave that normally precedes each QRS complex by a fixed PR interval of 120 to 200 milliseconds is not present.|HPO|N|
C1837857|Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ESRRB gene.|MONDO|N|
C1837872|Legionnaire disease (LD) is a type of pneumonia caused by Legionella pneumophila, a flagellated gram-negative bacterium found primarily in warm water environments. The disease and the bacterium were discovered following an outbreak traced to a 1976 American Legion convention in Philadelphia. A number of risk factors for acquiring LD have been identified, including age, smoking, chronic lung disease, cancer, and immunosuppression (summary by Hawn et al., 2003).|OMIM|N|
C1837873|Early-onset neurodegeneration in the human retina can lead to Leber congenital amaurosis (LCA), the most severe human form of inherited photoreceptor-neuron degeneration resulting in congenital blindness, with an incidence of approximately 1 in 80,000 (summary by Koenekoop et al., 2012). NMNAT1 mutations have been observed to cause severe and rapidly progressive macular degeneration, leading to severe central atrophy with an appearance of congenital macular coloboma in the neonatal period, as well as an unusual early-onset atrophy of the optic nerve (Perrault et al., 2012). Some patients present with later onset and milder phenotype than typical LCA (Kumaran et al., 2021).
For a general discussion of the phenotypic and genetic heterogeneity in Leber congenital amaurosis, see LCA1 (204000).|OMIM|N|
C1837884|Larsen-like osseous dysplasia-short stature syndrome is a rare primary bone dysplasia characterized by a Larsen-like phenotype including multiple, congenital, large joint dislocations, craniofacial abnormalities (i.e. macrocephaly, flat occiput, prominent forehead, hypertelorism, low-set, malformed ears, flat nose, cleft palate), spinal abnormalities, cylindrical fingers, and talipes equinovarus, as well as growth retardation (resulting in short stature) and delayed bone age. Other reported clinical manifestations include severe developmental delay, hypotonia, clinodactyly, congenital heart defect and renal dysplasia.|ORDO|N|
C1837893|A schizophrenia that has material basis in a mutation on chromosome 1p36.2.|MONDO|N|
C1837894|Intracranial berry aneurysms are saccular outpouchings of the intracranial arteries, most commonly at arterial bifurcations, characterized by arterial wall remodeling. Most cases of ruptured intracranial berry aneurysms result in a subarachnoid hemorrhage, associated with high morbidity and mortality (summary by van der Voet et al., 2004).
For a discussion of genetic heterogeneity of intracranial berry aneurysm, see ANIB1 (105800).|OMIM|N|
C1837899|Abnormal transferrin isoform profile consistent with a type I congenital disorder of glycosylation. In the traditional nomenclature for congenital disorders of glycosylation, absence of entire glycans was designated type I, and loss of one or more monosaccharides as type II.|HPO|N|
C1837915|Familial erythrocytosis-2 (ECYT2) is an autosomal recessive disorder characterized by increased red blood cell mass, increased serum levels of erythropoietin (EPO; 133170), and normal oxygen affinity. Patients with ECYT2 carry a high risk for peripheral thrombosis and cerebrovascular events (Cario, 2005). Familial erythrocytosis-2 has features of both primary and secondary erythrocytosis. In addition to increased circulating levels of EPO, consistent with a secondary, extrinsic process, erythroid progenitors may be hypersensitive to EPO, consistent with a primary, intrinsic process (Prchal, 2005).
For a general phenotypic description and a discussion of genetic heterogeneity of familial erythrocytosis, see ECYT1 (133100).|OMIM|N|
C1837972|Myopia, or nearsightedness, is a refractive error of the eye. Light rays from a distant object are focused in front of the retina and those from a near object are focused in the retina; therefore distant objects are blurry and near objects are clear (summary by Kaiser et al., 2004).
For a discussion of genetic heterogeneity of susceptibility to myopia, see (160700).|OMIM|N|
C1837974|Lattice corneal dystrophy type IIIA (CDL3A) is an autosomal dominant condition characterized by amyloid accumulation in the corneal stroma. It is clinically manifest as the presence of thick ropy lattice lines in the cornea. Recurrent erosions are common. Onset occurs between 70 and 90 years of age (Yamamoto et al., 1998).|OMIM|N|
C1838019|An inflammatory bowel disease that has material basis in variation in the chromosome region 3p26.|MONDO|N|
C1838023|Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the CC2D1A gene.|MONDO|N|
C1838049|Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is characterized by clusters of nocturnal motor seizures, which are often stereotyped and brief (5 seconds to 5 minutes). They vary from simple arousals from sleep to dramatic, often bizarre hyperkinetic events with tonic or dystonic features. Affected individuals may experience aura. Retained awareness during seizures is common. A minority of individuals experience daytime seizures. Onset ranges from infancy to adulthood. About 80% of individuals develop ADNFLE in the first two decades of life; mean age of onset is ten years. Clinical neurologic examination is normal and intellect is usually preserved, but reduced intellect, psychiatric comorbidity, or cognitive deficits may occur. Within a family, the manifestations of the disorder may vary considerably. ADNFLE is lifelong but not progressive. As an individual reaches middle age, attacks may become milder and less frequent.|GeneReviews|N|
C1838062|A rare genetic familial partial epilepsy disease with characteristics of focal seizures associated with prominent ictal auditory symptoms, and/or receptive aphasia, presenting in two or more family members and having a relatively benign evolution.|SNOMEDCT_US|N|
C1838063|A seizure characterized by elementary auditory phenomena including buzzing, ringing, drumming or single tones as its first clinical manifestation.|HPO|N|
C1838069|A schizophrenia that has material basis in an autosomal dominant mutation of SCZD3 on chromosome 6p23.|MONDO|N|
C1838099|ABCD syndrome (ABCDS) is an autosomal recessive disorder characterized by albinism, black lock, cell migration disorder of the neurocytes of the gut (Hirschsprung disease), and deafness (summary by Verheij et al., 2002).|OMIM|N|
C1838100|MODY is a form of familial noninsulin-dependent diabetes mellitus (T2D; 125853) and is characterized by an early age of onset (childhood, adolescence, or young adulthood under 25 years) and autosomal dominant inheritance.
For a phenotypic description and discussion of genetic heterogeneity of MODY, see 606391.|OMIM|N|
C1838102|Malignant hyperthermia susceptibility (MHS) is a pharmacogenetic disorder of skeletal muscle calcium regulation associated with uncontrolled skeletal muscle hypermetabolism. Manifestations of malignant hyperthermia (MH) are precipitated by certain volatile anesthetics (i.e., halothane, isoflurane, sevoflurane, desflurane, enflurane), either alone or in conjunction with a depolarizing muscle relaxant (specifically, succinylcholine). The triggering substances cause uncontrolled release of calcium from the sarcoplasmic reticulum and may promote entry of extracellular calcium into the myoplasm, causing contracture of skeletal muscles, glycogenolysis, and increased cellular metabolism, resulting in production of heat and excess lactate. Affected individuals experience acidosis, hypercapnia, tachycardia, hyperthermia, muscle rigidity, compartment syndrome, rhabdomyolysis with subsequent increase in serum creatine kinase (CK) concentration, hyperkalemia with a risk for cardiac arrhythmia or even cardiac arrest, and myoglobinuria with a risk for renal failure. In nearly all cases, the first manifestations of MH (tachycardia and tachypnea) occur in the operating room; however, MH may also occur in the early postoperative period. There is mounting evidence that some individuals with MHS will also develop MH with exercise and/or on exposure to hot environments. Without proper and prompt treatment with dantrolene sodium, mortality is extremely high.|GeneReviews|N|
C1838103|Belongs to the heterogeneous family of metabolic myopathies. It is characterised by progressive exercise intolerance manifesting in childhood, onset of sideroblastic anaemia around adolescence, lactic acidaemia and mitochondrial myopathy. Less than 10 cases have been described so far. A 656C-->T mutation in the nuclear pseudouridine synthase 1 gene (PUS1), localised to 12q24.33, has recently been identified in some patients. Deficient pseudouridylation of mitochondrial tRNAs may be responsible for the oxidative phosphorylation disorder. Transmission is autosomal recessive.|SNOMEDCT_US|N|
C1838114|Generalized (unlocalized) atrophy affecting muscles of the limbs in both proximal and distal locations.|HPO|N|
C1838120|A rare genetic disease characterized by lethal non-spherocytic, non-immune hemolytic anemia, in association with abnormalities of the external genitalia (such as micropenis and hypospadias). Reported dysmorphic features include flat occiput, dimpled earlobes, deep plantar creases, and increased space between the first and second toes. There have been no further descriptions in the literature since 1995.|ORDO|N|
C1838121|A rare genetic disorder characterised by split-hand/split-foot malformation (SHFM), facial anomalies, cleft lip/palate, congenital heart defect (CHD), genital anomalies, and intellectual deficit.|SNOMEDCT_US|N|
C1838122|A rare association syndrome, reported in several members of two families to date, characterized by arterial dissection, occurring at an early age and presenting with a range of manifestations depending on the vascular territory involved (ex. headache, dysphasia, hemiparesis), in association with cystic medial necrosis and multiple lentigines (brown and black in color and mainly affecting the skin of the trunk and extremities).|ORDO|N|
C1838123|Anterior cervical hypertrichosis (ACH) or 'hairy throat' refers to the presence of a tuft of terminal hair on the anterior neck, just above the laryngeal prominence.|HPO|N|
C1838160|Pectus excavatum-macrocephaly-dysplastic nails syndrome is a rare multiple congenital anomalies syndrome characterized by relative macrocephaly, pectus excavatum, short stature, nail dysplasia, and motor developmental delay (that resolves during childhood). There have been no further descriptions in the literature since 1992.|ORDO|N|
C1838161|An extremely rare malformation syndrome characterized by the association of partial distal aphalangia with syndactyly, duplication of metatarsal IV, microcephaly, and mild intellectual disability.|ORDO|N|
C1838162|The Verloes-David-Pfeiffer mesomelia-synostoses syndrome is an autosomal dominant form of mesomelic dysplasia comprising typical acral synostoses combined with ptosis, hypertelorism, palatal abnormality, congenital heart disease, and ureteral anomalies (summary by Isidor et al., 2009).
Mesomelia and synostoses are also cardinal features of the Kantaputra type of mesomelic dysplasia (156232).|OMIM|N|
C1838163|Hereditary hemorrhagic telangiectasia (HHT) is characterized by the presence of multiple arteriovenous malformations (AVMs) that lack intervening capillaries and result in direct connections between arteries and veins. The most common clinical manifestation is spontaneous and recurrent nosebleeds (epistaxis) beginning on average at age 12 years. Telangiectases (small AVMs) are characteristically found on the lips, tongue, buccal and gastrointestinal (GI) mucosa, face, and fingers. The appearance of telangiectases is generally later than epistaxis but may be during childhood. Large AVMs occur most often in the lungs, liver, or brain; complications from bleeding or shunting may be sudden and catastrophic. A minority of individuals with HHT have GI bleeding, which is rarely seen before age 50 years.|GeneReviews|N|
C1838167|Telangiectases in the area of the nails.|HPO|N|
C1838180|CODAS is an acronym for cerebral, ocular, dental, auricular, and skeletal anomalies. CODAS syndrome is a rare disorder characterized by a distinctive constellation of features that includes developmental delay, craniofacial anomalies, cataracts, ptosis, median nasal groove, delayed tooth eruption, hearing loss, short stature, delayed epiphyseal ossification, metaphyseal hip dysplasia, and vertebral coronal clefts (summary by Strauss et al., 2015).|OMIM|N|
C1838186|A shift from the normally round (convex) appearance of the iliac wing towards a square-like appearance.|HPO|N|
C1838192|A form of hereditary spastic paraplegia which usually presents in late adolescence or early adulthood as a pure phenotype of lower limb spasticity with hyperreflexia and extensor plantar responses, as well as mild bladder disturbances and pes cavus. Rarely, it can present as a complex phenotype with additional manifestations including epilepsy, variable peripheral neuropathy and/or memory impairment. Caused by mutations in the NIPA1 gene (15q11.2) encoding the magnesium transporter NIPA1.|SNOMEDCT_US|N|
C1838206|Recessive aplasia cutis congenita of limbs is an extremely rare variant of aplasia cutis congenita (ACC) characterized by the congenital absence of skin on the upper and/or lower limbs, with these lesions usually healing spontaneously resulting in a hypotrichotic scar. Recessive ACC of limbs may be associated with junctional epidermolysis bullosa. The inheritance was hypothesized to be autosomal recessive. There have been no further descriptions in the literature since 1980.|MONDO|N|
C1838230|Spinal muscular atrophy (SMA) is characterized by muscle weakness and atrophy resulting from progressive degeneration and irreversible loss of the anterior horn cells in the spinal cord (i.e., lower motor neurons) and the brain stem nuclei. The onset of weakness ranges from before birth to adulthood. The weakness is symmetric, proximal > distal, and progressive. Before the genetic basis of SMA was understood, it was classified into clinical subtypes based on maximum motor function achieved; however, it is now apparent that the phenotype of SMN1-associated SMA spans a continuum without clear delineation of subtypes. With supportive care only, poor weight gain with growth failure, restrictive lung disease, scoliosis, and joint contractures are common complications; however, newly available targeted treatment options are changing the natural history of this disease.|GeneReviews|N|
C1838244|Udd distal myopathy – tibial muscular dystrophy (UDM-TMD) is characterized by weakness of ankle dorsiflexion and inability to walk on the heels after age 30 years. Disease progression is slow and muscle weakness remains confined to the anterior compartment muscles for many years. The long toe extensors become clinically involved after ten to 20 years, leading to foot drop and clumsiness when walking. In the mildest form, UDM-TMD can remain unnoticed even in the elderly. EMG shows profound myopathic changes in the anterior tibial muscle, but preservation of the extensor brevis muscle. Muscle MRI shows selective fatty degeneration of the anterior tibial muscles and other anterior compartment muscles of the lower legs. Serum CK concentration may be normal or slightly elevated. Muscle biopsy shows progressive dystrophic changes in the tibialis anterior muscle with rimmed vacuoles at the early stages and replacement with adipose tissue at later stages of the disease.|GeneReviews|N|
C1838256|A rare genetic developmental defect during embryogenesis. A syndrome characterized by the association of congenital poikiloderma (P), generalized alopecia (A), retrognathism (R) and cleft palate (C). There have been no further descriptions in the literature since 1990.|SNOMEDCT_US|N|
C1838258|This syndrome is characterized by osteopetrosis, agenesis of the corpus callosum, cerebral atrophy and a small hippocampus.|ORDO|N|
C1838259|An inherited susceptibility or predisposition to developing type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 2q31.|MONDO|N|
C1838260|Type 1 diabetes is a disorder characterized by abnormally high levels of blood glucose, also called blood sugar. In this form of diabetes, specialized cells in the pancreas called beta cells stop producing insulin. Insulin controls how much glucose (a type of sugar) is passed from the blood into cells for conversion to energy. Lack of insulin results in the inability to use glucose for energy or to control the amount of glucose in the blood.\n\nType 1 diabetes can occur at any age, from early childhood to late adulthood. The first signs and symptoms of the disorder are caused by high blood glucose and may include frequent urination (polyuria), excessive thirst (polydipsia), fatigue, blurred vision, tingling or loss of feeling in the hands and feet, and weight loss. These symptoms may recur during the course of the disorder if blood glucose is not well controlled by insulin replacement therapy. Improper control can also cause blood glucose levels to become too low (hypoglycemia). This may occur when the body's needs change, such as during exercise or if eating is delayed. Hypoglycemia can cause headache, dizziness, hunger, shaking, sweating, weakness, and agitation.\n\nUncontrolled type 1 diabetes can lead to a life-threatening complication called diabetic ketoacidosis. Without insulin, cells cannot take in glucose. A lack of glucose in cells prompts the liver to try to compensate by releasing more glucose into the blood, and blood glucose can become extremely high. The cells, unable to use the glucose in the blood for energy, respond by using fats instead. Breaking down fats to obtain energy produces waste products called ketones, which can build up to toxic levels in people with type 1 diabetes, resulting in diabetic ketoacidosis. Affected individuals may begin breathing rapidly; develop a fruity odor in the breath; and experience nausea, vomiting, facial flushing, stomach pain, and dryness of the mouth (xerostomia). In severe cases, diabetic ketoacidosis can lead to coma and death.\n\nOver many years, the chronic high blood glucose associated with diabetes may cause damage to blood vessels and nerves, leading to complications affecting many organs and tissues. The retina, which is the light-sensitive tissue at the back of the eye, can be damaged (diabetic retinopathy), leading to vision loss and eventual blindness. Kidney damage (diabetic nephropathy) may also occur and can lead to kidney failure and end-stage renal disease (ESRD). Pain, tingling, and loss of normal sensation (diabetic neuropathy) often occur, especially in the feet. Impaired circulation and absence of the normal sensations that prompt reaction to injury can result in permanent damage to the feet; in severe cases, the damage can lead to amputation. People with type 1 diabetes are also at increased risk of heart attacks, strokes, and problems with urinary and sexual function.|MedlinePlus Genetics|N|
C1838261|An inherited susceptibility or predisposition to developing type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 11q13.|MONDO|N|
C1838262|An inherited susceptibility or predisposition to developing type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 15q26.|MONDO|N|
C1838263|Autosomal recessive deafness-3 (DFNB3) is a congenital, profound, neurosensory deafness. There are no apparent vestibular abnormalities or dysmorphic features (Friedman et al., 1995).|OMIM|N|
C1838280|Autosomal dominant multiple epiphyseal dysplasia (MED) presents in early childhood, usually with pain in the hips and/or knees after exercise. Affected children complain of fatigue with long-distance walking. Waddling gait may be present. Adult height is either in the lower range of normal or mildly shortened. The limbs are relatively short in comparison to the trunk. Pain and joint deformity progress, resulting in early-onset osteoarthritis, particularly of the large weight-bearing joints.|GeneReviews|N|
C1838281|A rare syndrome with features of multiple congenital anomalies with macrocephaly (of post-natal onset), large anterior fontanelle, progressive complex spastic paraplegia, coarse facial features (broad and high forehead, deeply set eyes, short philtrum with thin upper lip, large mouth and prominent incisors), seizures, and intellectual deficit of varying severity. Inheritance appears to be autosomal recessive.|SNOMEDCT_US|N|
C1838319|The primitive reflexes are a group of behavioral motor responses which are found in normal early development, are subsequently inhibited, but may be released from inhibition by cerebral, usually frontal, damage. They are thus part of a broader group of reflexes which reflect release phenomena, such as exaggerated stretch reflexes and extensor plantars. They do however involve more complex motor responses than such simple stretch reflexes, and are often a normal feature in the neonate or infant.|HPO|N|
C1838320|Hyperorality is a condition characterized by an excessive preoccupation with oral sensations and behaviors, such as chewing, sucking, biting, swallowing, and excessive mouthing of objects.|HPO|N|
C1838327|Disease with characteristics of early-onset severe polycystic kidney disease with various manifestations of tuberous sclerosis (multiple angiomyolipomas, lymphangioleiomyomatosis and periventricular calcifications of the central nervous system). A contiguous gene syndrome caused by a large deletion involving both the PKD1 and TSC2 genes (16p13.3). Transmission is autosomal dominant.|SNOMEDCT_US|N|
C1838328|A very rare syndrome with the association of thin and short upper and lower tarsus and absence of the lower eyelashes. It has been described in 11 patients from a four-generation family. There is no other unusual feature. Inheritance is autosomal dominant.|SNOMEDCT_US|N|
C1838329|Oculoectodermal syndrome (OES) is characterized by the association of epibulbar dermoids and aplasia cutis congenita. Affected individuals exhibit congenital scalp lesions which are atrophic, nonscarring, hairless regions that are often multiple and asymmetric in distribution, and may have associated hamartomas. Ectodermal changes include linear hyperpigmentation that may follow the lines of Blaschko and, rarely, epidermal nevus-like lesions. Epibulbar dermoids may be uni- or bilateral. Additional ocular anomalies such as skin tags of the upper eyelid and rarely optic nerve or retinal changes or microphthalmia can be present. Phenotypic expression is highly variable, and various other abnormalities have occasionally been reported, including growth failure, lymphedema, and cardiovascular defects, as well as neurodevelopmental symptoms such as developmental delay, epilepsy, learning difficulties, and behavioral abnormalities. Benign tumor-like lesions such as nonossifying fibromas of the long bones and giant cell granulomas of the jaws have repeatedly been observed and appear to be age-dependent, becoming a common manifestation in individuals aged 5 years or older (summary by Boppudi et al., 2016).|OMIM|N|
C1838332|Helicobacter pylori is a microaerophilic, gram-negative bacterium that colonizes the gastric mucosa of approximately 50% of the world's population, and is a primary pathogenic factor in benign and malignant gastroduodenal disease (Warren and Marshall, 1983; Blaser and Parsonnet, 1994). Tomb et al. (1997) reported the complete sequence of the circular genome of H. pylori. The 1,667,867-bp genome contains 1,590 predicted coding sequences (genes). Sequence analysis of these genes indicated that the organism has systems for motility, for scavenging iron, and for DNA restriction and modification. Its survival in acid conditions depends, in part, on its ability to establish a positive inside-membrane potential in low pH.|OMIM|N|
C1838333|Lynch syndrome-4 (LYNCH4), or hereditary nonpolyposis colorectal cancer type 4 (HNPCC4), is an autosomal dominant disorder characterized primarily by the development of early-onset colorectal cancer. It is associated with the development of a variety of epithelial tumors that include endometrial cancer, stomach cancer, and ovarian cancer (summary by Thompson et al., 2004).|OMIM|N|
C1838347|A rare malformation disorder characterized by sagittal craniosynostosis, Dandy-Walker malformation, hydrocephalus, craniofacial dysmorphism (including dolichocephaly, hypertelorism, micrognathia, positional ear deformity) and variable developmental delay.|ORDO|N|
C1838348|Oblique facial clefts are a rare form of orofacial clefting, comprising about 0.25% of all facial clefts. Two major types have been described classically: nasoocular and oroocular, the latter of which can be subdivided into oromedial-canthal and orolateral-canthal (summary by Dasouki et al., 1988).|OMIM|N|
C1838359|Hereditary palmoplantar keratoderma (PPK) is characterized by hyperkeratosis of the skin of palms and soles. Lind et al. (1994) described an autosomal dominant form of diffuse nonepidermolytic PPK, designated PPK type Bothnia (PPKB), which has a high prevalence of 0.3 to 0.55% in the 2 northernmost provinces of Sweden, situated to the west and the northwest of the Gulf of Bothnia. The Bothnian form is frequently complicated by fungal infections and lacks the histopathologic features distinctive of epidermolytic PPK (EPPK; 144200).
For discussion of phenotypic and genetic heterogeneity of palmoplantar keratoderma, see epidermolytic PPK (144200).|OMIM|N|
C1838429|Autosomal dominant multiple epiphyseal dysplasia (MED) presents in early childhood, usually with pain in the hips and/or knees after exercise. Affected children complain of fatigue with long-distance walking. Waddling gait may be present. Adult height is either in the lower range of normal or mildly shortened. The limbs are relatively short in comparison to the trunk. Pain and joint deformity progress, resulting in early-onset osteoarthritis, particularly of the large weight-bearing joints.|GeneReviews|N|
C1838437|The condition multiple cutaneous and mucosal venous malformations (VMCM) is characterized by the presence of small, multifocal bluish cutaneous and/or mucosal venous malformations. They are usually present at birth. New lesions appear with time. Small lesions are usually asymptomatic; larger lesions can invade subcutaneous muscle and cause pain. Malignant transformation has not been reported.|GeneReviews|N|
C1838440|An inherited non-syndromic congenital ichthyosis characterized by the infancy-onset of palmoplantar peeling of the skin (aggravated by exposure to water and by occlusion) associated with dry, scaly skin over most of the body. Pruritus and hypohidrosis may also be associated. Well-demarcated areas of denuded skin appear in moist and traumatized regions and skin biopsies reveal reduced cell-cell adhesion in the basal and suprabasal layers, prominent intercellular edema, numerous aggregates of keratin filaments in basal keratinocytes, attenuated cornified cell envelopes, and epidermal barrier impairment.|SNOMEDCT_US|N|
C1838447|Waardenburg syndrome type II (WS2) is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes; congenital sensorineural hearing loss; and the absence of 'dystopia canthorum,' the lateral displacement of the inner canthus of each eye, which is seen in some other forms of WS (Hughes et al., 1994). WS type 2B (WS2B) maps to chromosome 1p. Waardenburg syndrome type 2 is genetically heterogeneous (see WS2A; 193510).
For a description of other clinical variants of Waardenburg syndrome, see WS1 (193500), WS3 (148820), and WS4 (277580).|OMIM|N|
C1838457|Fanconi anemia (FA) is characterized by physical abnormalities, bone marrow failure, and increased risk for malignancy. Physical abnormalities, present in approximately 75% of affected individuals, include one or more of the following: short stature, abnormal skin pigmentation, skeletal malformations of the upper and/or lower limbs, microcephaly, and ophthalmic and genitourinary tract anomalies. Progressive bone marrow failure with pancytopenia typically presents in the first decade, often initially with thrombocytopenia or leukopenia. The incidence of acute myeloid leukemia is 13% by age 50 years. Solid tumors – particularly of the head and neck, skin, and genitourinary tract – are more common in individuals with FA.|GeneReviews|N|
C1838491|This autosomal recessive neurodevelopmental disorder is characterized by pachygyria, impaired intellectual development, seizures, and diffuse localization of arachnoid cysts. It most likely represents a neuronal migration disorder within the lissencephaly spectrum (summary by Guzel et al., 2007).|OMIM|N|
C1838492|The autosomal dominant TRPV4 disorders (previously considered to be clinically distinct phenotypes before their molecular basis was discovered) are now grouped into neuromuscular disorders and skeletal dysplasias; however, the overlap within each group is considerable. Affected individuals typically have either neuromuscular or skeletal manifestations alone, and in only rare instances an overlap syndrome has been reported. The three autosomal dominant neuromuscular disorders (mildest to most severe) are: Charcot-Marie-Tooth disease type 2C. Scapuloperoneal spinal muscular atrophy. Congenital distal spinal muscular atrophy. The autosomal dominant neuromuscular disorders are characterized by a congenital-onset, static, or later-onset progressive peripheral neuropathy with variable combinations of laryngeal dysfunction (i.e., vocal fold paresis), respiratory dysfunction, and joint contractures. The six autosomal dominant skeletal dysplasias (mildest to most severe) are: Familial digital arthropathy-brachydactyly. Autosomal dominant brachyolmia. Spondylometaphyseal dysplasia, Kozlowski type. Spondyloepiphyseal dysplasia, Maroteaux type. Parastremmatic dysplasia. Metatropic dysplasia. The skeletal dysplasia is characterized by brachydactyly (in all 6); the five that are more severe have short stature that varies from mild to severe with progressive spinal deformity and involvement of the long bones and pelvis. In the mildest of the autosomal dominant TRPV4 disorders life span is normal; in the most severe it is shortened. Bilateral progressive sensorineural hearing loss (SNHL) can occur with both autosomal dominant neuromuscular disorders and skeletal dysplasias.|GeneReviews|N|
C1838502|Autosomal dominant nanophthalmos is characterized by a small eye, as indicated by short axial length, high hyperopia, high lens/eye volume ratio, and a high incidence of angle-closure glaucoma (summary by Othman et al., 1998).
Genetic Heterogeneity of Nanophthalmos
Nanophthalmos-1 (NNO1) has been mapped to chromosome 11p. Nanophthalmos-2 (NNO2; 609549) is caused by mutation in the MFRP gene (606227) on chromosome 11q23. Nanophthalmos-3 (NNO3; 611897) has been mapped to chromosome 2q11-q14. Nanophthalmos-4 (NNO4; 615972) is caused by mutation in the TMEM98 gene (615949) on chromosome 17q11.|OMIM|N|
C1838547|Melanoma-pancreatic cancer syndrome is an inherited cancer predisposition syndrome in which mutation carriers have an increased risk of developing malignant melanoma and/or pancreatic cancer. Mutation carriers within families may develop either or both types of cancer (summary by Harinck et al., 2012).
For background and phenotypic information on malignant melanoma and pancreatic cancer, see 155600 and 260350, respectively.|OMIM|N|
C1838562|This syndrome has characteristics of pterygium colli, digital anomalies and craniofacial abnormalities. Digital anomalies include abnormal small thumbs, widened interphalangeal joints, and broad terminal phalanges. Craniofacial abnormalities include brachycephaly, epicanthic folds, angulated eyebrows, upward slanting of the palpebral fissures, ptosis, hypertelorism, prominent low-set and posteriorly rotated ears. It has been described in a woman and her son, but the manifestations were much less severe in the mother. The son also had intellectual deficit. The inheritance is either X-linked dominant or autosomal dominant.|SNOMEDCT_US|N|
C1838564|The disorder described by Hirschsprung (1888) and known as Hirschsprung disease or aganglionic megacolon is characterized by congenital absence of intrinsic ganglion cells in the myenteric (Auerbach) and submucosal (Meissner) plexuses of the gastrointestinal tract. Patients are diagnosed with the short-segment form (S-HSCR, approximately 80% of cases) when the aganglionic segment does not extend beyond the upper sigmoid, and with the long-segment form (L-HSCR) when aganglionosis extends proximal to the sigmoid. Total colonic aganglionosis and total intestinal HSCR also occur (Amiel et al., 2008).
Isolated HSCR appears to be of complex nonmendelian inheritance with low sex-dependent penetrance and variable expression according to the length of the aganglionic segment, suggestive of the involvement of one or more genes with low penetrance (Amiel et al., 2008).
For a general description and a discussion of genetic heterogeneity of Hirschsprung disease (HSCR), see 142623.|OMIM|N|
C1838568|Sacral defect with anterior meningocele (SDAM) is a form of caudal dysgenesis. It is present at birth and becomes symptomatic later in life, usually because of obstructive labor in females, chronic constipation, or meningitis. Inheritance is autosomal dominant (Chatkupt et al., 1994). Welch and Aterman (1984) gave a population frequency of 0.14%.
Caudal dysgenesis syndrome and caudal regression syndrome are broad terms that refer to a heterogeneous constellation of congenital caudal anomalies affecting the caudal spine and spinal cord, the hindgut, the urogenital system, and the lower limbs. Approximately 15 to 25% of mothers of children with caudal dysgenesis have insulin-dependent diabetes mellitus (222100) (Lynch et al., 2000).
See also Currarino syndrome (176450), a similar disorder caused by mutation in the HLXB9 gene (142994) on chromosome 7q36. Currarino syndrome classically comprises the triad of hemisacrum, anorectal malformation, and presacral mass. However, Currarino syndrome also shows phenotypic variability: Lynch et al. (2000) stated that there is variable expressivity of clinical features and that some patients with Currarino syndrome are asymptomatic. Kochling et al. (2001) found the complete triad of Currarino syndrome in only 8 of 23 patients with mutations in the HLXB9 gene, These reports suggest that some patients previously reported as having forms of sacral agenesis, including SDAM, may have had Currarino syndrome and vice versa.
See also spina bifida (182940), which can be seen in some patients with sacral agenesis or caudal regression syndrome and may be etiologically related.|OMIM|N|
C1838570|The neuronal ceroid lipofuscinoses (NCL; CLN) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally. The lipopigment patterns observed most often in CLN8 comprise mixed combinations of 'granular,' 'curvilinear,' and 'fingerprint' profiles (Mole et al., 2005).
For a general phenotypic description and a discussion of genetic heterogeneity of CLN, see CLN1 (256730).|OMIM|N|
C1838571|The neuronal ceroid lipofuscinoses (NCL, or CLN) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally (summary by Mole et al., 2005).
For a general phenotypic description and a discussion of genetic heterogeneity of CLN, see CLN1 (256730).|OMIM|N|
C1838577|HTRA1 disorder is a phenotypic spectrum in which some individuals have few to no symptoms and others manifest with the more severe CARASIL (cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy) phenotype. Those who have a heterozygous HTRA1 pathogenic variant may have mild neurologic findings (sometimes identified only on neuroimaging) or mild-to-moderate neurologic signs and symptoms of CARASIL. In this chapter, the term "classic CARASIL" refers to the more severe phenotype associated with biallelic pathogenic variants, and "HTRA1 cerebral small vessel disease" (HTRA1-CSVD) refers to the milder phenotype associated with a heterozygous HTRA1 pathogenic variant. Classic CARASIL is characterized by early-onset changes in the deep white matter of the brain observed on MRI, and associated neurologic findings. The most frequent initial symptom is gait disturbance from spasticity beginning between ages 20 and 40 years. Forty-four percent of affected individuals have stroke-like episodes before age 40 years. Mood changes (apathy and irritability), pseudobulbar palsy, and cognitive dysfunction begin between ages 20 and 50 years. The disease progresses slowly following the onset of neurologic symptoms. Scalp alopecia and acute mid- to lower-back pain (lumbago) before age 30 years are characteristic. The most frequent initial symptom in individuals with HTRA1-CSVD is slowly progressive gait disturbance after age 40 years, which may be followed by the development of mood changes and cognitive dysfunction. A majority of affected individuals have a stroke-like episode after age 40 years. Spondylosis and alopecia are seen in a minority of individuals with HTRA1-CSVD.|GeneReviews|N|
C1838579|Pseudobulbar signs result from injury to an upper motor neuron lesion to the corticobulbar pathways in the pyramidal tract. Patients have difficulty chewing, swallowing and demonstrate slurred speech (often initial presentation) as well as abnormal behavioral symptoms such as inappropriate emotional outbursts of uncontrolled laughter or weeping etc.|HPO|N|
C1838601|Retinitis pigmentosa (RP) is a clinically and genetically heterogeneous group of retinal dystrophies characterized by a progressive degeneration of photoreceptors, eventually resulting in severe visual impairment.
For a discussion of genetic heterogeneity of RP, see 268000.|OMIM|N|
C1838603|Any retinitis pigmentosa in which the cause of the disease is a mutation in the TULP1 gene.|MONDO|N|
C1838604|Childhood absence epilepsy (CAE, ECA), a subtype of idiopathic generalized epilepsy (EIG; 600669), is characterized by a sudden and brief impairment of consciousness that is accompanied by a generalized, synchronous, bilateral, 2.5- to 4-Hz spike and slow-wave discharge (SWD) on EEG. Seizure onset occurs between 3 and 8 years of age and seizures generally occur multiple times per day. About 70% of patients experience spontaneous remission of seizures, often around adolescence. There are no structural neuropathologic findings in patients with ECA (Crunelli and Leresche, 2002).
Genetic Heterogeneity of Susceptibility to Childhood Absence Epilepsy
The ECA1 locus has been mapped to chromosome 8q24; see also EIG1 (see 600669), which also maps to 8q24.
Susceptibility to the development of childhood absence epilepsy may be conferred by variation in several genes: ECA2 (see 607681), conferred by variation in the GABRG2 gene (137164) on chromosome 5q31.1; ECA4 (611136), conferred by variation in the GABRA1 gene (137160) on chromosome 5q34; ECA5 (612269), conferred by variation in the GABRB3 gene (137192) on chromosome 15q12; and ECA6 (see 611942), conferred by variation in the CACNA1H gene (607904) on chromosome 16p13.
See EIG11 (607628) for discussion of a locus previously designated ECA3 on chromosome 3q26.|OMIM|N|
C1838606|A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.|ORDO|N|
C1838610|Absent first metacarpal (long bone) of the hand.|HPO|N|
C1838611|A rare syndrome with 46,XY disorder of sex development characterized by variable degrees of intellectual disability, short stature, severe genital anomalies resulting in sexual ambiguity (such as pseudovaginal perineoscrotal hypospadias and persistence of Müllerian structures), and ocular anomalies (microphthalmia, coloboma). Craniofacial peculiarities (coarse features, deep set eyes), spina bifida, imperforate anus, and sensorineural hearing loss were also described. No new cases have been reported since 1994.|ORDO|N|
C1838612|Rhizomelic chondrodysplasia punctata (RCDP) is a peroxisomal disorder characterized by disproportionately short stature primarily affecting the proximal parts of the extremities, a typical facial appearance including a broad nasal bridge, epicanthus, high-arched palate, dysplastic external ears, and micrognathia, congenital contractures, characteristic ocular involvement, dwarfism, and severe mental retardation with spasticity. Biochemically, plasmalogen synthesis and phytanic acid alpha-oxidation are defective. Most patients die in the first decade of life. RCDP1 is the most frequent form of RCDP (summary by Wanders and Waterham, 2005). Whereas RCDP1 is a peroxisomal biogenesis disorder (PBD), RCDP3 is classified as a single peroxisome enzyme deficiency (Waterham and Ebberink, 2012).
For a discussion of genetic heterogeneity of rhizomelic chondrodysplasia punctata, see 215100.|OMIM|N|
C1838625|RAB18 deficiency is the molecular deficit underlying both Warburg micro syndrome (characterized by eye, nervous system, and endocrine abnormalities) and Martsolf syndrome (characterized by similar – but milder – findings). To date Warburg micro syndrome comprises >96% of reported individuals with genetically defined RAB18 deficiency. The hallmark ophthalmologic findings are bilateral congenital cataracts, usually accompanied by microphthalmia, microcornea (diameter <10), and small atonic pupils. Poor vision despite early cataract surgery likely results from progressive optic atrophy and cortical visual impairment. Individuals with Warburg micro syndrome have severe to profound intellectual disability (ID); those with Martsolf syndrome have mild to moderate ID. Some individuals with RAB18 deficiency also have epilepsy. In Warburg micro syndrome, a progressive ascending spastic paraplegia typically begins with spastic diplegia and contractures during the first year, followed by upper-limb involvement leading to spastic quadriplegia after about age five years, often eventually causing breathing difficulties. In Martsolf syndrome infantile hypotonia is followed primarily by slowly progressive lower-limb spasticity. Hypogonadism – when present – manifests in both syndromes, in males as micropenis and/or cryptorchidism and in females as hypoplastic labia minora, clitoral hypoplasia, and small introitus.|GeneReviews|N|
C1838630|A severe form of developmental verbal apraxia with characteristics of a deficit in spontaneous speech, writing, grammatical judgment and repetition, defective articulation, moderate to severe degree of dyspraxia, a reduced use of consonant clusters and comprehension delay. Hearing and intelligence are normal. Inheritance is autosomal dominant with full penetrance.|SNOMEDCT_US|N|
C1838644|Stargardt disease-3 (STGD3) is an autosomal dominant juvenile macular dystrophy with onset most commonly in the second decade of life. Fundus examination reveals macular pigmentary changes and yellow flecks. Fluorescein angiography shows macular retinal pigment epithelium (RPE) defects (Bernstein et al., 2001; Maugeri et al., 2004).|OMIM|N|
C1838647|Any retinitis pigmentosa in which the cause of the disease is a mutation in the CRB1 gene.|MONDO|N|
C1838652|Split-hand/split-foot malformation is a limb malformation involving the central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals. Some patients with SHFM3 have been found to have mental retardation, ectodermal and craniofacial findings, and orofacial clefting (Elliott and Evans, 2006).
For additional phenotypic information and a discussion of genetic heterogeneity in this disorder, see SHFM1 (183600).|OMIM|N|
C1838654|Nivelon-Nivelon-Mabille syndrome (NNMS) is characterized by progressive microcephaly, vermis hypoplasia, and skeletal dysplasia. Variable features include infantile-onset seizures, dwarfism, generalized chondrodysplasia, and micromelia (Abdel-Salam et al., 2019).|OMIM|N|
C1838657|Vitamin D hydroxylation-deficient rickets type 1B (VDDR1B) is caused by a defect in vitamin D 25-hydroxylation (Molin et al., 2017). The major function of vitamin D is to maintain calcium and phosphate levels in the normal range to support metabolic functions, neuromuscular transmission, and bone mineralization. Disorders of vitamin D metabolism or action lead to defective bone mineralization and clinical features including intestinal malabsorption of calcium, hypocalcemia, secondary hyperparathyroidism, increased renal clearance of phosphorus, and hypophosphatemia. The combination of hypocalcemia and hypophosphatemia causes impaired mineralization of bone that results in rickets and osteomalacia (summary by Liberman and Marx, 2001).
Rickets can occur because of inadequate dietary intake or sun exposure or because of genetic disorders. Vitamin D3 (cholecalciferol) is taken in the diet or synthesized in the skin from 7-dehydrocholesterol by ultraviolet irradiation. For vitamin D to be active, it needs to be converted to its active form, 1,25-dihydroxyvitamin D3. Vitamin D is transported in the blood by the vitamin D binding protein (DBP; 139200) to the liver, where vitamin D 25-hydroxylase (CYP2R1; 608713) is the key enzyme for 25-hydroxylation. Vitamin D 25(OH)D3, the major circulating form of vitamin D, is then transported to the kidney, where 25(OH)D3 is hydroxylated at the position of carbon 1 of the A ring, resulting in the active form of vitamin D, 1,25-dihydroxyvitamin D3 (1,25(OH)2D3) (summary by Christakos et al., 2010).|OMIM|N|
C1838659|Malformation of the rib cage.|HPO|N|
C1838662|Irregularity of the normally smooth surface of the metaphyses.|HPO|N|
C1838670|A chronic myeloid leukemia characterized by chronic myelocytic leukemia in early infancy and absence of the BCR/ABL fusion gene (Philadelphia chromosome).|MONDO|N|
C1838701|Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MYO7A gene.|MONDO|N|
C1838702|Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF8 gene.|MONDO|N|
C1838703|Bladder exstrophy and epispadias complex (BEEC) is an anterior midline defect with variable expression involving the infraumbilical abdominal wall including the pelvis, urinary tract, and external genitalia (Gearhart and Jeffs, 1998). BEEC is one of the most severe urologic birth defects because of its profound impact on continence, sexual function, and morbidity due to the effect of chronic and recurrent infections on renal function. The term 'exstrophy,' derived from the Greek work ekstriphein, which literally means 'turn inside out,' was first used by Chaussier in 1780.
Martinez-Frias et al. (2001) emphasized that exstrophy of the cloaca and exstrophy of the bladder are 2 different expressions of a primary developmental field defect. Cloacal exstrophy is a feature of the OEIS (omphalocele-exstrophy-imperforate anus-spinal defects) complex (258040). Exstrophy of the cloaca includes the persistence and exstrophy of a common cloaca that receives ureters, ileum, and a rudimentary hindgut and is associated with failure of fusion of the genital tubercles and pubic rami, incomplete development of the lumbosacral vertebrae with spinal dysraphism, imperforate anus, cryptorchidism and epispadias in males and anomalies of the mullerian duct derivatives in females, and a wide range of urinary tract anomalies. Omphalocele is common, and most patients have a single umbilical artery.
Reutter et al. (2016) reviewed the epidemiology, potential mechanisms, and animal models for BEEC. They described BEEC as a spectrum of component malformations of variable severity, including epispadias as the mildest phenotype and classic bladder exstrophy as the most common, with cloacal exstrophy representing the most severe form. In approximately one-third of cases, urologic malformations are present, including ectopic kidney, renal agenesis, and/or hydronephrosis. Other malformations involving the gastrointestinal, skeletal, spinal, and genitourinary systems, including cryptorchidism and ambiguous genitalia, are reported frequently. The authors noted that cloacal exstrophy is considered by some to have a different embryologic origin from classic bladder exstrophy.|OMIM|N|
C1838705|Anterior malposition of the anus.|HPO|N|
C1838779|Eiken syndrome (EKNS) is an autosomal recessive skeletal dysplasia characterized by delayed ossification of bones, epiphyseal dysplasia, and bone remodeling abnormalities. Type A1 brachydactyly (see 112500), supernumerary epiphyses of proximal phalanges and metacarpals, and failure of eruption of primary teeth have also been described. Defining radiologic features include delayed ossification of epiphyses and primary ossification centers of short tubular bones, modeling abnormalities of tubular bones, and angel-shaped phalanges (Jacob et al., 2019).
See 603740 for a disorder with similar radiologic features.|OMIM|N|
C1838781|Spondylo-camptodactyly syndrome is characterized by camptodactyly, flattened cervical vertebral bodies and variable degrees of thoracic scoliosis.|ORDO|N|
C1838854|Mitochondrial nonsyndromic hearing loss and deafness is characterized by sensorineural hearing loss (SNHL) of variable onset and severity. Pathogenic variants in MT-RNR1 can be associated with predisposition to aminoglycoside ototoxicity and/or late-onset SNHL. Hearing loss associated with aminoglycoside ototoxicity is bilateral and severe to profound, occurring within a few days to weeks after administration of any amount (even a single dose) of an aminoglycoside antibiotic such as gentamycin, tobramycin, amikacin, kanamycin, or streptomycin. Pathogenic variants in MT-TS1 are usually associated with childhood onset of SNHL that is generally nonsyndromic – although the MT-TS1 substitution m.7445A>G has been found in some families who also have palmoplantar keratoderma (scaling, hyperkeratosis, and honeycomb appearance of the skin of the palms, soles, and heels).|GeneReviews|N|
C1838867|Parkinson's disease is a progressive disorder of the nervous system. The disorder affects several regions of the brain, especially an area called the substantia nigra that controls balance and movement.\n\nOften the first symptom of Parkinson's disease is trembling or shaking (tremor) of a limb, especially when the body is at rest. Typically, the tremor begins on one side of the body, usually in one hand. Tremors can also affect the arms, legs, feet, and face. Other characteristic symptoms of Parkinson's disease include rigidity or stiffness of the limbs and torso, slow movement (bradykinesia) or an inability to move (akinesia), and impaired balance and coordination (postural instability). These symptoms worsen slowly over time.\n\nParkinson's disease can also affect emotions and thinking ability (cognition). Some affected individuals develop psychiatric conditions such as depression and visual hallucinations. People with Parkinson's disease also have an increased risk of developing dementia, which is a decline in intellectual functions including judgment and memory.\n\nGenerally, Parkinson's disease that begins after age 50 is called late-onset disease. The condition is described as early-onset disease if signs and symptoms begin before age 50. Early-onset cases that begin before age 20 are sometimes referred to as juvenile-onset Parkinson's disease.|MedlinePlus Genetics|N|
C1838876|A rare mitochondrial oxidative phosphorylation disorder characterised by progressive generalised hypotonia, progressive external ophthalmoplegia and severe lactic acidosis, which result in early fatality (days to months after birth). Patients may present with lethargy and areflexia and may associate additional features, such as cardiomyopathy, renal dysfunction, liver involvement and seizures.|SNOMEDCT_US|N|
C1838877|Recurring episodes of myoglobinuria, i.e., of the presence of myoglobin in the urine. This is usually a consequence of rhabdomyolysis, i.e., of the destruction of muscle tissue.|HPO|N|
C1838912|Chronic diarrhea with villous atrophy is a rare, genetic gastroenterological disease characterized by the early onset of chronic diarrhea, vomiting, anorexia, lactic acidosis, renal insufficiency and hepatic involvement (mild elevation of liver enzymes, steatosis, hepatomegaly). Partial villous atrophy (with eosinophilic infiltration) is observed on intestinal biopsy. Although diarrhea may resolve, the development of neurologic symptoms (cerebellar ataxia, sensorineural deafness, seizures), retinitis pigmentosa and muscle weakness may complicate disease course and lead to death. There have been no further descriptions in the literature since 1994.|ORDO|N|
C1838979|Isolated complex I deficiency is a rare inborn error of metabolism due to mutations in nuclear or mitochondrial genes encoding subunits or assembly factors of the human mitochondrial complex I (NADH: ubiquinone oxidoreductase) and is characterized by a wide range of manifestations including marked and often fatal lactic acidosis, cardiomyopathy, leukoencephalopathy, pure myopathy and hepatopathy with tubulopathy. Among the numerous clinical phenotypes observed are Leigh syndrome, Leber hereditary optic neuropathy and MELAS syndrome (see these terms).|ORDO|N|
C1838993|Paroxysmal, recurrent episodes of vomiting.|HPO|N|
C1839025|Descreased amplitude of eletrical response upon electroretinography.|HPO|N|
C1839028|A rare, genetic, mitochondrial DNA-related mitochondrial myopathy disorder characterized by slowly progressive muscular weakness (proximal greater than distal), predominantly involving the facial muscles and scapular girdle, associated with insulin-dependent diabetes mellitus. Neurological involvement and congenital myopathy may be variably observed.|ORDO|N|
C1839030|Reduced strength of the orbicularis oculi, the circumorbital muscle in the face that closes the eyelid.|HPO|N|
C1839042|A functional anomaly of the upper motor neuron. The upper motor neurons are neurons of the primary motor cortex which project to the brainstem and spinal chord via the corticonuclear, corticobulbar and corticospinal (pyramidal) tracts. They are involved in control of voluntary movements. Dysfunction leads to weakness, impairment of fine motor movements, spasticity, hyperreflexia and abnormal pyramidal signs.|HPO|N|
C1839070|The hairy ears trait consists of long hairs growing from the helix of the pinna; see Dronamraju (1964) and Stern et al. (1964).|OMIM|N|
C1839071|Y chromosome infertility is characterized by azoospermia (absence of sperm), severe oligozoospermia (<1 x 106 sperm/mL semen), moderate oligozoospermia (1-5 x 106 sperm/mL semen), or mild oligozoospermia (5-20 x 106 sperm/mL semen). Males with Y chromosome infertility usually have no obvious symptoms, although physical examination may reveal small testes.|GeneReviews|N|
C1839079|Y-linked form of retinitis pigmentosa.|MONDO|N|
C1839088|Berg and Bearn (1966, 1966) discovered an X-linked serum protein type by means of heteroantiserum made specific by absorption. Since the group-specific antigen appears to be located in the alpha-2-macroglobulin of serum, the name Xm was assigned to the system. The distribution of phenotypes in families and in populations was consistent with X-linkage.|OMIM|N|
C1839123|Ulnar hypoplasia-split foot syndrome is characterised by the association of severe ulnar hypoplasia, absence of fingers two to five, and split-foot. It has been described in four males belonging to two generations of the same family. X-linked recessive inheritance is suggested, but autosomal dominant transmission cannot be excluded.|ORDO|N|
C1839125|Syndrome with characteristics of short stature, trigonocephaly and developmental delay. It has been described in three males. Moderate intellectual deficit was reported in one of the males and the other two patients displayed psychomotor retardation. X-linked transmission has been suggested but autosomal recessive inheritance cannot be ruled out.|SNOMEDCT_US|N|
C1839129|Torticollis-keloids-cryptorchidism-renal dysplasia syndrome is an extremely rare developmental defect during embryogenesis malformation syndrome characterized by congenital muscular torticollis associated with skin anomalies (such as multiple keloids, pigmented nevi, epithelioma), urogenital malformations (including cryptorchidism and hypospadias) and renal dysplasia (e.g. chronic pyelonephritis, renal atrophy). Additional reported features include varicose veins, intellectual disability and musculoskeletal anomalies.|ORDO|N|
C1839130|Individuals with X-linked dystonia-parkinsonism (XDP) have dystonia of varying severity and parkinsonism. XDP afflicts primarily Filipino men and, rarely, women. The mean age of onset in men is 39 years; the clinical course is highly variable with parkinsonism as the initial presenting sign, overshadowed by dystonia as the disease progresses. Features of parkinsonism include resting tremor, bradykinesia, rigidity, postural instability, and severe shuffling gait. The dystonia develops focally, most commonly in the jaw, neck, trunk, and eyes, and less commonly in the limbs, tongue, pharynx, and larynx, the most characteristic being jaw dystonia often progressing to neck dystonia. Individuals with pure parkinsonism have non-disabling symptoms that are only slowly progressive; those who develop a combination of parkinsonism and dystonia can develop multifocal or generalized symptoms within a few years and die prematurely from pneumonia or intercurrent infections. Female carriers are mostly asymptomatic, though a small minority may manifest dystonia, parkinsonism, or chorea.|GeneReviews|N|
C1839141|Inherited thyroxine-binding globulin deficiency is a genetic condition that typically does not cause any health problems.\n\nThyroxine-binding globulin is a protein that carries hormones made or used by the thyroid gland, which is a butterfly-shaped tissue in the lower neck. Thyroid hormones play an important role in regulating growth, brain development, and the rate of chemical reactions in the body (metabolism).  Most of the time, these hormones circulate in the bloodstream attached to thyroxine-binding globulin and similar proteins. If there is a shortage (deficiency) of thyroxine-binding globulin, the amount of circulating thyroid hormones is reduced.\n\nResearchers have identified two forms of inherited thyroxine-binding globulin deficiency: the complete form (TBG-CD), which results in a total loss of thyroxine-binding globulin, and the partial form (TBG-PD), which reduces the amount of this protein or alters its structure. Neither of these conditions causes any problems with thyroid function. They are usually identified during routine blood tests that measure thyroid hormones.\n\nAlthough inherited thyroxine-binding globulin deficiency does not cause any health problems, it can be mistaken for more serious thyroid disorders (such as hypothyroidism). Therefore, it is important to diagnose inherited thyroxine-binding globulin deficiency to avoid unnecessary treatments.|MedlinePlus Genetics|N|
C1839161|GATA1-related cytopenia is characterized by thrombocytopenia and/or anemia ranging from mild to severe. One or more of the following may also be present: platelet dysfunction, mild ß-thalassemia, neutropenia, and congenital erythropoietic porphyria (CEP) in males. Thrombocytopenia typically presents in infancy as a bleeding disorder with easy bruising and mucosal bleeding (e.g., epistaxis). Anemia ranges from minimal (mild dyserythropoiesis) to severe (hydrops fetalis requiring in utero transfusion). At the extreme end of the clinical spectrum, severe hemorrhage and/or erythrocyte transfusion dependence are life long; at the milder end, anemia and the risk for bleeding may decrease spontaneously with age. Heterozygous females may have mild-to-moderate symptoms such as menorrhagia.|GeneReviews|N|
C1839163|The WAS-related disorders, which include Wiskott-Aldrich syndrome, X-linked thrombocytopenia (XLT), and X-linked congenital neutropenia (XLN), are a spectrum of disorders of hematopoietic cells, with predominant defects of platelets and lymphocytes caused by pathogenic variants in WAS. WAS-related disorders usually present in infancy. Affected males have thrombocytopenia with intermittent mucosal bleeding, bloody diarrhea, and intermittent or chronic petechiae and purpura; eczema; and recurrent bacterial and viral infections, particularly of the ear. At least 40% of those who survive the early complications develop one or more autoimmune conditions including hemolytic anemia, immune thrombocytopenic purpura, immune-mediated neutropenia, rheumatoid arthritis, vasculitis, and immune-mediated damage to the kidneys and liver. Individuals with a WAS-related disorder, particularly those who have been exposed to Epstein-Barr virus (EBV), are at increased risk of developing lymphomas, which often occur in unusual, extranodal locations including the brain, lung, or gastrointestinal tract. Males with XLT have thrombocytopenia with small platelets; other complications of Wiskott-Aldrich syndrome, including eczema and immune dysfunction, are usually mild or absent. Males with XLN have congenital neutropenia, myeloid dysplasia, and lymphoid cell abnormalities.|GeneReviews|N|
C1839167|Reduced platelet count that occurs sporadically, i.e., it comes and goes.|HPO|N|
C1839235|Taurodontism, microdontia, and dens invaginatus (TMDI) is an X-linked recessive disorder in which affected individuals exhibit generalized abnormally small teeth, with molars that have a crown and pulp chamber that are disproportionately and vertically longer than the roots (taurodontism). In addition, multiple teeth exhibit dens invaginatus, the formation of a tooth within a tooth, resulting either from the dental papilla folding into the developing tooth or the enamel folding into the dental papilla (Casamassimo et al., 1978; Gowans et al., 2019).|OMIM|N|
C1839254|Underdevelopment of the proximal epiphysis of the femur.|HPO|N|
C1839258|Split-hand/split-foot malformation is a limb malformation involving the central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals (Elliott and Evans, 2006).
For additional phenotypic information and a discussion of genetic heterogeneity of split-hand/split-foot malformation, see SHFM1 (183600).|OMIM|N|
C1839259|Spinal and bulbar muscular atrophy (SBMA) is a gradually progressive neuromuscular disorder in which degeneration of lower motor neurons results in muscle weakness, muscle atrophy, and fasciculations. SBMA occurs only in males. Affected individuals often show gynecomastia, testicular atrophy, and reduced fertility as a result of mild androgen insensitivity.|GeneReviews|N|
C1839264|PLP1 disorders of central nervous system myelin formation include a range of phenotypes from Pelizaeus-Merzbacher disease (PMD) to spastic paraplegia 2 (SPG2). PMD typically manifests in infancy or early childhood with nystagmus, hypotonia, and cognitive impairment; the findings progress to severe spasticity and ataxia. Life span is shortened. SPG2 manifests as spastic paraparesis with or without CNS involvement and usually normal life span. Intrafamilial variation of phenotypes can be observed, but the signs are usually fairly consistent within families. Heterozygous females may manifest mild-to-moderate signs of the disease.|GeneReviews|N|
C1839269|A duplication of the renal pelvis.|HPO|N|
C1839277|A cleft of the lip with overlying mucous membrane.|HPO|N|
C1839305|A decreased proportion of circulating CD8-positive, alpha-beta T cells relative to total number of T cells.|HPO|N|
C1839311|Syndrome with manifestations of syndactyly of the fingers and toes, characteristic facies (startled facial expression with a small pointed nose, micrognathia, long dark eyelashes and prominent eyebrows) and intellectual deficit. Less than 10 cases have been described in the literature so far. Abnormal dermatoglyphic patterns, growth retardation and brachycephaly have also been reported. Transmission appears to be autosomal or X-linked recessive.|SNOMEDCT_US|N|
C1839320|X-linked mental retardation, Schimke type, is characterised by intellectual deficit, growth retardation with short stature, deafness and ophthalmoplegia. Choreoathetosis with muscle spasticity generally appears during childhood. It has been described in four boys, three of whom were from the same family. Transmission is X-linked.|ORDO|N|
C1839321|Syndrome with the association of skeletal abnormalities, cutis laxa, craniostenosis, ambiguous genitalia, psychomotor retardation and facial abnormalities. So far, it has been described in two males (maternal first cousins). The mode of inheritance was suggested to be X-linked recessive.|SNOMEDCT_US|N|
C1839326|Abnormal morphology of vertebral body.|HPO|N|
C1839341|An abnormality of the T wave on the electrocardiogram, which mainly represents the repolarization of the ventricles.|HPO|N|
C1839362|Degenerative changes of the peripheral retina consisting of close-packed tiny cystic spaces at the outer plexiform/inner nuclear retinal level. The degeneration is very common in adult eyes and starts adjacent to the ora serrata and extends circumferentially and posteriorly.|HPO|N|
C1839364|A reduction of previously attained ability to see.|HPO|N|
C1839368|A retinitis pigmentosa that has material basis in variation in the chromosome region Xp21.3-p21.2.|MONDO|N|
C1839410|A rare, genetic limb reduction defects syndrome characterized by bilateral radial aplasia/hypoplasia manifesting with absent/short forearms in association with anogenital abnormalities (e.g. hypospadias or imperforate anus). Additional features reported include hydrocephalus and absent preaxial digits. There have been no further descriptions in the literature since 1993.|ORDO|N|
C1839413|Genetic defects in the pyruvate dehydrogenase complex are one of the most common causes of primary lactic acidosis in children. Most cases are caused by mutation in the E1-alpha subunit gene on the X chromosome. X-linked PDH deficiency is one of the few X-linked diseases in which a high proportion of heterozygous females manifest severe symptoms. The clinical spectrum of PDH deficiency is broad, ranging from fatal lactic acidosis in the newborn to chronic neurologic dysfunction with structural abnormalities in the central nervous system without systemic acidosis (Robinson et al., 1987; Brown et al., 1994).
Genetic Heterogeneity of Pyruvate Dehydrogenase Complex Deficiency
PDH deficiency can also be caused by mutation in other subunits of the PDH complex, including a form (PDHXD; 245349) caused by mutation in the component X gene (PDHX; 608769) on chromosome 11p13; a form (PDHBD; 614111) caused by mutation in the PDHB gene (179060) on chromosome 3p14; a form (PDHDD; 245348) caused by mutation in the DLAT gene (608770) on chromosome 11q23; a form (PDHPD; 608782) caused by mutation in the PDP1 gene (605993) on chromosome 8q22; and a form (PDHLD; 614462) caused by mutation in the LIAS gene (607031) on chromosome 4p14.|OMIM|N|
C1839436|A severe form of lactic acidemia.|HPO|N|
C1839437|A chronic form of lactic acidemia.|HPO|N|
C1839440|X-linked lethal multiple pterygium syndrome is a rare, genetic, developmental defect during embryogenesis characterized by the typical lethal multiple pterygium syndrome presentation (comprising of multiple pterygia, severe arthrogryposis, cleft palate, cystic hygromata and/or fetal hydrops, skeletal abnormalities and fetal death in the 2nd or 3rd trimester) with an X-linked pattern of inheritance.|ORDO|N|
C1839454|Properdin (factor P) is a plasma protein that is active in the alternative complement pathway of the innate immune system. It is a positive regulatory factor that binds to many microbial surfaces to stabilize the C3b,Bb convertase. Deficiency of properdin is associated in particular with a heightened susceptibility to Neisseria species (Janeway et al., 2001).|OMIM|N|
C1839458|An abnormality of the functioning of any aspect of the alternative complement pathway.|HPO|N|
C1839463|The classic features of TARP syndrome are talipes equinovarus, atrial septal defect, Robin sequence (micrognathia, cleft palate, and glossoptosis), and persistent left superior vena cava. Not all patients have all classic features. Some patients have the additional features of central nervous system dysfunction, renal abnormalities, variable cardiac anomalies including hypertrophic obstructive cardiomyopathy, and variable distal limb defects including syndactyly. Most patients die in late prenatal or early postnatal stages (summary by Kaeppler et al., 2018).|OMIM|N|
C1839512|Reduced ability to flex (bend) the knee joint.|HPO|N|
C1839532|A decreased concentration of citrulline in the blood.|HPO|N|
C1839533|An increased concentration of glutamine in the blood.|HPO|N|
C1839546|A form of developmental hypoplasia of the mandible in which the mandible is mislocalised posteriorly.|HPO|N|
C1839566|X-linked Charcot-Marie-Tooth neuropathy type 5 (CMTX5), part of the spectrum of PRPS1-related disorders, is characterized by peripheral neuropathy, early-onset (prelingual) bilateral profound sensorineural hearing loss, and optic neuropathy. The onset of peripheral neuropathy is between ages five and 12 years. The lower extremities are affected earlier and more severely than upper extremities. Initial manifestations often include foot drop or gait disturbance. Onset of visual impairment is between ages seven and 20 years. Intellect and life span are normal. Carrier females do not have findings of CMTX5.|GeneReviews|N|
C1839576|A rare form of hereditary optic atrophy seen in only 4 families to date. With onset in early childhood the disease has characteristics of progressive loss of visual acuity, significant optic nerve pallor and occasionally additional neurological manifestations, with females being unaffected.|SNOMEDCT_US|N|
C1839580|FRMD7-related infantile nystagmus (FIN) is characterized by either the onset of horizontal, conjugate, gaze-dependent nystagmus in the first six months of life or periodic alternating nystagmus (with cyclical changes of nystagmus direction) of infantile onset. Binocular vision and color vision are normal and visual acuity is typically better than 6/12. An abnormal head posture is seen in approximately 15% of affected individuals. The eyes are structurally normal and electrophysiologic studies (e.g., visual evoked potential, electroretinogram) are normal. Affected females report slightly better visual acuity than affected males; however, no differences between males and females in the amplitude, frequency, and waveform of nystagmus are observed.|GeneReviews|N|
C1839602|A hereditary sensory neuropathy characterized by X-linked inheritance of slowly progressing neuropathy with onset in the first or second decade of life.|MONDO|N|
C1839603|Dysfunction of the proximal tubule, which is the portion of the duct system of the nephron of the kidney which leads from Bowman's capsule to the loop of Henle.|HPO|N|
C1839606|Excretion in urine of proteins of a size smaller than albumin (molecular weight 69 kD).|HPO|N|
C1839612|Myopia, or nearsightedness, is a refractive error of the eye. Light rays from a distant object are focused in front of the retina and those from a near object are focused in the retina; therefore distant objects are blurry and near objects are clear (summary by Kaiser et al., 2004).
For a discussion of genetic heterogeneity of myopia, see 160700.|OMIM|N|
C1839615|X-linked myopathy with excessive autophagy (XMEA) is an X-linked recessive skeletal muscle disorder characterized by childhood onset of progressive muscle weakness and atrophy primarily affecting the proximal muscles. While onset is usually in childhood, it can range from infancy to adulthood. Many patients lose ambulation and become wheelchair-bound. Other organ systems, including the heart, are clinically unaffected. Muscle biopsy shows intracytoplasmic autophagic vacuoles with sarcolemmal features and a multilayered basal membrane (summary by Ramachandran et al., 2013; Kurashige et al., 2013, and Ruggieri et al., 2015).
Danon disease (300257), caused by mutation in the LAMP2 gene (309060) on chromosome Xq24, is a distinct disorder with similar pathologic features.|OMIM|N|
C1839630|A severe degree of muscular hypotonia characterized by markedly reduced muscle tone.|HPO|N|
C1839666|Enlargement of the muscles of the calf due to their replacement by connective tissue or fat.|HPO|N|
C1839728|A rare non-syndromic syndactyly characterized by unilateral or bilateral fusion of the 4th and 5th metacarpals with no other associated abnormalities. Patients present shortened 4th and 5th metacarpals with excessive separation between their distal ends, resulting in marked ulnar deviation of the little finger and an inability to bring the 5th finger in parallel with the other fingers.|ORDO|N|
C1839729|This syndrome combines skeletal anomalies (short stature, ridging of the metopic suture, fusion of cervical vertebrae, thoracic hemivertebrae, scoliosis, sacral hypoplasia and short middle phalanges) and mild intellectual deficit. It has been described in four male cousins in three sibships. Glucose intolerance was present in three cases, and imperforated anus in one case. Carrier females had minor manifestations (fusion of cervical vertebrae and glucose intolerance). Transmission seems to be X-linked.|SNOMEDCT_US|N|
C1839730|Prieto syndrome (PRS) is an X-linked intellectual developmental disorder characterized by mildly to severely impaired intellectual development, developmental delay, autism spectrum disorder, or neuropsychiatric symptoms, variably accompanied by speech delay, epilepsy, microcephaly, structural brain defects, and minor facial anomalies (summary by Kury et al., 2022).|OMIM|N|
C1839731|Presence of only 11 pairs of ribs.|HPO|N|
C1839736|Wilson-Turner syndrome (WTS) is an X-linked recessive neurologic disorder characterized by intellectual disability, dysmorphic facial features, hypogonadism, short stature, and truncal obesity. Females are unaffected (Wilson et al., 1991).|OMIM|N|
C1839739|Increased thickness of the lower lip, leading to a prominent appearance of the lower lip. The height of the vermilion of the lower lip in the midline is more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the lower lip in the frontal view (subjective).|HPO|N|
C1839758|Width of the forehead or distance between the frontotemporales is more than two standard deviations below the mean (objective); or apparently narrow intertemporal region (subjective).|HPO|N|
C1839767|Triangular appearance of the oral aperture with the apex in the midpoint of the upper vermilion and the lower vermilion forming the base.|HPO|N|
C1839780|FMR1 disorders include fragile X syndrome (FXS), fragile X-associated tremor/ataxia syndrome (FXTAS), and fragile X-associated primary ovarian insufficiency (FXPOI). Fragile X syndrome occurs in individuals with an FMR1 full mutation or other loss-of-function variant and is nearly always characterized in affected males by developmental delay and intellectual disability along with a variety of behavioral issues. Autism spectrum disorder is present in 50%-70% of individuals with FXS. Affected males may have characteristic craniofacial features (which become more obvious with age) and medical problems including hypotonia, gastroesophageal reflux, strabismus, seizures, sleep disorders, joint laxity, pes planus, scoliosis, and recurrent otitis media. Adults may have mitral valve prolapse or aortic root dilatation. The physical and behavioral features seen in males with FXS have been reported in females heterozygous for the FMR1 full mutation, but with lower frequency and milder involvement. FXTAS occurs in individuals who have an FMR1 premutation and is characterized by late-onset, progressive cerebellar ataxia and intention tremor followed by cognitive impairment. Psychiatric disorders are common. Age of onset is typically between 60 and 65 years and is more common among males who are hemizygous for the premutation (40%) than among females who are heterozygous for the premutation (16%-20%). FXPOI, defined as hypergonadotropic hypogonadism before age 40 years, has been observed in 20% of women who carry a premutation allele compared to 1% in the general population.|GeneReviews|N|
C1839785|The presence of a folate sensitive fragile site at chromosome Xq28.|HPO|N|
C1839792|X-linked intellectual disability, Wilson type is characterised by severe intellectual deficit with mutism, epilepsy, growth retardation and recurrent infections. It has been described in three males from three generations of one family. The causative gene has been localised to the 11p region of the X chromosome.|ORDO|N|
C1839797|Accentuated, prominent philtral ridges giving rise to an exaggerated groove in the midline between the nasal base and upper vermillion border.|HPO|N|
C1839798|Distance from nasion to subnasale more than two standard deviations above the mean, or alternatively, an apparently increased length from the nasal root to the nasal base.|HPO|N|
C1839799|Eruption of permanent teeth behind deciduous (baby) teeth before they have fallen out, resulting in a double row of teeth. This phenomen is typically observed between the ages of 5 to 7 years.|HPO|N|
C1839816|Increased inferior-superior length of the neck.|HPO|N|
C1839829|Short distance from the end of the finger to the most distal interphalangeal crease or the distal interphalangeal joint flexion point. That is, hypoplasia of one or more of the distal phalanx of finger.|HPO|N|
C1839830|Excessive amount of hair growth on forehead.|HPO|N|
C1839832|A type of cardiomyopathy characterized anatomically by deep trabeculations in the ventricular wall, which define recesses communicating with the main ventricular chamber.|HPO|N|
C1839841|Any azoospermia in which the cause of the disease is a mutation in the TEX11 gene.|MONDO|N|
C1839860|An elevation of alpha-feto protein measured in the amniotic fluid.|HPO|N|
C1839864|A bent (flexed) finger or toe joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints.|HPO|N|
C1839865|Abnormally increased concentration of hydrogencarbonate in the urine.|HPO|N|
C1839874|Low molecular weight proteinuria with hypercalciuria and nephrocalcinosis is a form of X-linked hypercalciuric nephrocalcinosis, a group of disorders characterized by proximal renal tubular reabsorptive failure, hypercalciuria, nephrocalcinosis, and renal insufficiency. These disorders have also been referred to as the 'Dent disease complex' (Scheinman, 1998; Gambaro et al., 2004). For a general discussion of Dent disease, see 300009.|OMIM|N|
C1839884|A rare renal disease characterized by the association of X-linked Alport syndrome (glomerular nephropathy, sensorineural deafness and ocular anomalies) and benign proliferation of visceral smooth muscle cells along the gastrointestinal, respiratory, and female genital tracts and clinically manifests with dysphagia, dyspnea, cough, stridor, postprandial vomiting, retrosternal or epigastric pain, recurrent pneumonia, and clitoral hypertrophy in females.|ORDO|N|
C1839891|Leber optic atrophy, also known as Leber hereditary optic atrophy (LHON; 535000), is characterized by bilateral, painless, subacute central vision loss in young adults resulting from primary degeneration of retinal ganglion cells (RGCs) accompanied by ascending optic atrophy (summary by Yu et al., 2020). Variation in mitochondrial DNA (mtDNA) contributes to the pathogenesis of the disease. Modifier of Leber optic atrophy (LOAM) exhibits increased penetrance and earlier age of onset compared to Leber optic atrophy caused by the LHON11778A mutation in the MTND4 gene (516003.0001) alone, due to the action of mutation in PRICKLE3 as a modifier of expression of the disease.
For a general description and discussion of genetic heterogeneity of Leber optic atrophy, see 535000.|OMIM|N|
C1839909|L1 syndrome involves a phenotypic spectrum ranging from severe to mild and includes three clinical phenotypes: X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS). MASA (mental retardation [intellectual disability], aphasia [delayed speech], spastic paraplegia [shuffling gait], adducted thumbs) syndrome including X-linked complicated hereditary spastic paraplegia type 1. X-linked complicated corpus callosum agenesis. Males with HSAS are born with severe hydrocephalus, adducted thumbs, and spasticity; intellectual disability is severe. In less severely affected males, hydrocephalus may be subclinically present and documented only because of developmental delay; intellectual disability ranges from mild (IQ: 50-70) to moderate (IQ: 30-50). It is important to note that all phenotypes can be observed in affected individuals within the same family.|GeneReviews|N|
C1839910|A rare, genetic, developmental defect during embryogenesis syndrome characterized by generalized keratosis follicularis, severe proportionate dwarfism and cerebral atrophy. Alopecia (of scalp, eyebrows and eyelashes) and microcephaly are additionally observed features. Intellectual disability, inguinal hernia and epilepsy may also be associated. There have been no further descriptions in the literature since 1974.|ORDO|N|
C1839965|The presence of multiple impacted teeth.|HPO|N|
C1839969|Reduced ability of the natural killer cell to function in the adaptive immune response.|HPO|N|
C1839972|An abnormally increased level of immunoglobulin M in blood.|HPO|N|
C1839988|Ichthyosis follicularis - alopecia - photophobia (IFAP) is a rare genetic disorder characterized by the triad of ichthyosis follicularis, alopecia, and photophobia from birth.|ORPHANET|N|
C1840006|Intrauterine growth retardation that is at least 2 standard deviations (SD) below average, but not as low as 3 SD, corrected for sex and gestational age.|HPO|N|
C1840061|Ischiocoxopodopatellar syndrome (ICPPS) is a rare autosomal dominant disorder characterized by a/hypoplasia of the patellas and various anomalies of the pelvis and feet. Pelvic anomalies include bilateral absent or delayed ossification of the ischiopubic junction and infraacetabular axe cut notches. Other major signs are a wide gap between the first and second toes, short fourth and fifth rays of the feet, and pes planus (summary by Bongers et al., 2001). Pediatric-onset pulmonary arterial hypertension may be seen in association with ICPPS (Kerstjens-Frederikse et al., 2013 and Levy et al., 2016).|OMIM|N|
C1840062|Underdevelopment of the lesser trochanter.|HPO|N|
C1840066|Increased length of the neck of the femur.|HPO|N|
C1840068|Underdevelopment of the patella.|HPO|N|
C1840069|A widely spaced gap between the first toe (the great toe) and the second toe.|HPO|N|
C1840077|Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip).|HPO|N|
C1840086|Underdevelopment of the pectoralis major.|HPO|N|
C1840088|An abnormal limitation of the mobility of the wrist.|HPO|N|
C1840235|A single maxillary central incisor positioned in the midline with morphological symmetry of the crown and bordered by lateral incisors.|HPO|N|
C1840238|Abnormal narrowing (stenosis) of the midnasal cavity, i.e., of the middle nasal meatus, which in neonates can cause respiratory distress.|HPO|N|
C1840253|Atopy is an allergic disorder characterized by immunoglobulin E (IgE) responses to environmental proteins that are otherwise innocuous and predominantly found in plant pollen and house dust. It is the major cause of asthma (see 600807), rhinitis (see 607154), and eczema (see 603165) in children and young adults (summary by Young et al., 1992).|OMIM|N|
C1840283|Ichthyosis-cheek-eyebrow syndrome is characterized by ichthyosis, prominent full cheeks and sparse lateral eyebrows. It has been described in several individuals from four generations of one family. Transmission is autosomal dominant.|MONDO|N|
C1840284|Leber congenital amaurosis comprises a group of early-onset childhood retinal dystrophies characterized by vision loss, nystagmus, and severe retinal dysfunction. Patients usually present at birth with profound vision loss and pendular nystagmus. Electroretinogram (ERG) responses are usually nonrecordable. Other clinical findings may include high hypermetropia, photodysphoria, oculodigital sign, keratoconus, cataracts, and a variable appearance to the fundus (summary by Chung and Traboulsi, 2009).
For a general description and a discussion of genetic heterogeneity of LCA, see 204000.|OMIM|N|
C1840296|The Curth-Macklin type of ichthyosis hystrix (IHCM) is clinically characterized by severe fissuring and mutilating palmoplantar keratoderma. Affected individuals also exhibit extensive dark spiky or verrucous hyperkeratotic plaques over the large joints and trunk, which in some patients may cover almost the entire body. Structural and ultrastructural hallmarks include compact orthokeratotic hyperkeratosis, hypergranulosis with perinuclear edema, binucleated cells, and formation of perinuclear filamentous shells composed of feathery entangled keratin intermediate filaments (summary by Richardson et al., 2006 and Fonseca et al., 2013).
The Lambert type of ichthyosis hystrix (IHL; 146600), in which palms and soles are spared, is caused by mutation in the KRT10 (148080) gene.|OMIM|N|
C1840299|Hypotrichosis simplex can affect all body hair or be limited to the scalp. Usually patients with the scalp-limited form of hypotrichosis present with normal hair at birth; they experience a progressive, gradual loss of scalp hair beginning at the middle of the first decade and leading to almost complete loss of scalp hair by the third decade. A few sparse, fine, short hairs remain in some individuals. Body hair, beard, eyebrows, axillary hair, teeth, and nails develop normally. Light and electron microscopy of hairs from early hypotrichosis simplex revealed no structural changes, whereas hairs from patients with advanced hypotrichosis showed focal areas of defective cuticular structure. Men and women are equally affected (summary by Betz et al., 2000).
For a discussion of genetic heterogeneity of nonsyndromic hypotrichosis, see 605389.|OMIM|N|
C1840309|Short fourth metacarpal bone.|HPO|N|
C1840311|Presence of a gap in the posterior laryngotracheal wall with a continuity between the larynx and the esophagus.|HPO|N|
C1840319|Excess skin around the neck, often lying in horizontal folds.|HPO|N|
C1840322|Tooth specific inherited disorder of mineral metabolism caused by gene mutation, encoding tissue non-specific alkaline phosphatase (TNAP).|SNOMEDCT_US|N|
C1840333|HDR syndrome (HDRS), also known as Barakat syndrome, is a heterogeneous disorder characterized by the triad of Hypoparathyroidism (H), nerve Deafness (D) and/or Renal disease (R). Variable clinical features include hypogonadotrophic hypogonadism, polycystic ovaries, congenital heart disease, retinitis pigmentosa, and cognitive disability (Barakat et al., 2018).|OMIM|N|
C1840334|Hypoparathyroidism associated with homozygous mutation(s) in the PTH gene, which encodes parathyroid hormone, or in the GCM2 gene, which encodes chorion-specific transcription factor GCMb.|NCI|N|
C1840335|Mullerian duct anomalies-limb anomalies syndrome is characterised by the association of mullerian duct and distal limb anomalies. It has been described in five individuals from one family. Females presented with anomalies ranging from a vaginal septum to complete duplication of uterus and vagina, and males presented with micropenis. The limb anomalies varied from postaxial polydactyly to severe upper limb hypoplasia with split hand. The mode of transmission is autosomal dominant.|ORDO|N|
C1840347|Familial hypocalciuric hypercalcemia type II (HHC2) is an autosomal dominant disorder characterized by lifelong elevations of serum calcium concentrations with low urinary calcium excretion and normal circulating parathyroid hormone concentrations in most patients. Patients are generally asymptomatic (summary by Nesbit et al., 2013).
For a general phenotypic description and a discussion of genetic heterogeneity of hypocalciuric hypercalcemia, see HHC1 (145980).|OMIM|N|
C1840362|Hypertrichosis is defined as hair growth that is excessive for a particular site of the body or age of the patient and that is not hormone-dependent (summary by Fantauzzo et al., 2012).
Genetic Heterogeneity of Congenital Generalized Hypertrichosis
HTC1 has been mapped to chromosome 8q. HTC2 (307150) is caused by palindrome-mediated interchromosomal insertion at chromosome Xq27. HTC3 (135400), which can occur with or without associated gingival hyperplasia, is caused by deletion or duplication at chromosome 17q24 or by mutation in the ABCA5 gene (612503) on chromosome 17q24.
Also see lanugo-like generalized congenital hypertrichosis (145700).|OMIM|N|
C1840364|Selective pituitary resistance to thyroid hormone (PRTH) results in continued thyroid-stimulating hormone (TSH) production driving hypersecretion of T3 and T4 to establish a new equilibrium, with high serum levels of free thyroid hormones together with a nonsuppressed TSH. The presence of a variety of thyrotoxic features, including palpitations, anxiety, tremor, heat intolerance, insomnia, weight loss, and increased stool frequency, suggests that peripheral tissues are less refractory to thyroid hormones than the pituitary (summary by Adams et al., 1994).|OMIM|N|
C1840365|King-Denborough syndrome (KDS) is an autosomal dominant disorder characterized by the triad of congenital myopathy, dysmorphic features, and susceptibility to malignant hyperthermia (summary by Dowling et al., 2011).|OMIM|N|
C1840374|Abnormal increase in systolic blood pressure.|HPO|N|
C1840375|Abnormal increase in diastolic blood pressure.|HPO|N|
C1840376|An abnormal increase in the average blood pressure in an individual during a single cardiac cycle.|HPO|N|
C1840379|Underdevelopment of the vermis of cerebellum.|HPO|N|
C1840380|If the two laminae of the septum pellucidum are not fused then a fluid-filled space or cavum is present. The cavum septum pellucidum is present at birth but usually obliterates by the age of 3 to 6 months. It is up to 1cm in width and the walls are parallel. It is an enclosed space and is not part of the ventricular system or connected with the subarachnoid space.|HPO|N|
C1840382|An abnormality of the ureter. The ureter is the duct by which urine passes from the kidney to the bladder.|HPO|N|
C1840386|An instance of hypersensitivity pneumonitis that is caused by an inherited modification of the individual's genome.|MONDO|N|
C1840389|Pseudohypoaldosteronism type II (PHAII) is characterized by hyperkalemia despite normal glomerular filtration rate (GFR) and frequently by hypertension. Other associated findings in both children and adults include hyperchloremia, metabolic acidosis, and suppressed plasma renin levels. Aldosterone levels are variable, but are relatively low given the degree of hyperkalemia (elevated serum potassium is a potent stimulus for aldosterone secretion). Hypercalciuria is well described.|GeneReviews|N|
C1840390|Pseudohypoaldosteronism type II (PHAII) is characterized by hyperkalemia despite normal glomerular filtration rate (GFR) and frequently by hypertension. Other associated findings in both children and adults include hyperchloremia, metabolic acidosis, and suppressed plasma renin levels. Aldosterone levels are variable, but are relatively low given the degree of hyperkalemia (elevated serum potassium is a potent stimulus for aldosterone secretion). Hypercalciuria is well described.|GeneReviews|N|
C1840391|Pseudohypoaldosteronism type II (PHAII) is characterized by hyperkalemia despite normal glomerular filtration rate (GFR) and frequently by hypertension. Other associated findings in both children and adults include hyperchloremia, metabolic acidosis, and suppressed plasma renin levels. Aldosterone levels are variable, but are relatively low given the degree of hyperkalemia (elevated serum potassium is a potent stimulus for aldosterone secretion). Hypercalciuria is well described.|GeneReviews|N|
C1840392|Familial progressive hyperpigmentation with or without hypopigmentation (FPHH) is characterized by diffuse hyperpigmentation of variable intensity sometimes associated with cafe-au-lait macules and larger hypopigmented ash-leaf macules. These features, which involve the face, neck, trunk, and limbs, are seen at birth or develop early in infancy (summary by Wang et al., 2009 and Amyere et al., 2011).
Also see familial progressive hyperpigmentation (FPH1; 614233).|OMIM|N|
C1840402|The spectrum of CDC73-related disorders includes the following phenotypes: Hyperparathyroidism-jaw tumor (HPT-JT) syndrome. Primary hyperparathyroidism, the main finding of HPT-JT syndrome, occurs in up to 95% of affected individuals; onset is typically in late adolescence or early adulthood. HPT-JT-associated primary hyperparathyroidism is usually caused by a single parathyroid adenoma. In approximately 10%-15% of individuals, primary hyperparathyroidism is caused by parathyroid carcinoma. Ossifying fibromas of the mandible or maxilla, also known as cementifying fibromas and cemento-ossifying fibromas, occur in 30%-40% of individuals with HPT-JT syndrome. Although benign, these tumors can be locally aggressive and may continue to enlarge if not treated. Approximately 20% of individuals with HPT-JT syndrome have kidney lesions, most commonly cysts; renal hamartomas and (more rarely) Wilms tumor have also been reported. Benign and malignant uterine tumors appear to be common in women with HPT-JT syndrome. Parathyroid carcinoma. Most parathyroid carcinomas are functional, resulting in hyperparathyroidism and a high serum calcium level; however, nonfunctioning parathyroid carcinomas are also rarely described in individuals with a CDC73-related disorder. A germline CDC73 pathogenic variant has been identified in 20%-29% of individuals with apparently sporadic parathyroid carcinoma. Familial isolated hyperparathyroidism (FIHP). FIHP is characterized by primary hyperparathyroidism without other associated syndromic features. Individuals with CDC73-related FIHP tend to have a more severe clinical presentation and younger age of onset than individuals with FIHP in whom a CDC73 pathogenic variant has not been identified.|GeneReviews|N|
C1840403|An instance of parathyroid gland adenoma that is caused by an inherited modification of the individual's genome.|MONDO|N|
C1840404|Hyperostosis cranialis interna is a bone disorder characterized by endosteal hyperostosis and osteosclerosis of the calvaria and the skull base. The progressive bone overgrowth causes entrapment and dysfunction of cranial nerves I, II, V, VII, and VIII (Waterval et al., 2010).|OMIM|N|
C1840418|Abnormal thickening of the cortex of long bones.|HPO|N|
C1840419|Increase in bone density in the diaphyseal (shaft) region of a metacarpal bone.|HPO|N|
C1840420|Osteosclerosis of the endosteal surface of the diaphyses (shafts) of the metatarsal bones.|HPO|N|
C1840428|Hyperkeratosis-hyperpigmentation syndrome describes a very rare hyperpigmentation of the skin characterized by tiny hyperpigmented spots mainly on skin exposed to sunlight, together with mild punctate palmoplantar papular hyperkeratosis as a major feature. There have been no further descriptions in the literature since 1993.|ORDO|N|
C1840437|Isolated hyperchlorhidrosis (HYCHL) is an autosomal recessive condition in which excessive salt wasting in sweat can result in severe infantile hyponatremic dehydration and hyperkalemia (summary by Muhammad et al., 2011).|OMIM|N|
C1840451|A rare lethal form of multicystic dysplastic kidney (MCDK), a congenital anomaly of the kidney and urinary tract (CAKUT), in which both kidneys are large, distended by non-communicating multiple cysts and non-functional.|ORDO|N|
C1840452|VCAN-related vitreoretinopathy, which includes Wagner syndrome and erosive vitreoretinopathy (ERVR), is characterized by "optically empty vitreous" on slit-lamp examination and avascular vitreous strands and veils, mild or occasionally moderate to severe myopia, presenile cataract, night blindness of variable degree associated with progressive chorioretinal atrophy, retinal traction and retinal detachment in the advanced stages of disease, and reduced visual acuity. Optic nerve inversion as well as uveitis has also been described. Systemic abnormalities are not observed. The first signs usually become apparent during early adolescence, but onset can be as early as age two years.|GeneReviews|N|
C1840455|A mild form of myopia with up to -3.00 diopters.|HPO|N|
C1840457|Atrophy (loss or wasting) of the retinal pigment epithelium observed on fundoscopy or fundus imaging.|HPO|N|
C1840475|Horner syndrome, resulting from unilateral paralysis of the cervical sympathetics, comprises the classic triad of unilateral ptosis, unilateral miosis with anisocoria, and ipsilateral facial anhidrosis. Iris heterochromia may also be present (Takanashi et al., 2003).|OMIM|N|
C1840528|A rare disorder caused by mutations in the TGIF gene mapped to chromosome 18p11.3. It is characterized by semilobar holoprosencephaly, hypotelorism, and ptosis.|NCI|N|
C1840529|Any holoprosencephaly in which the cause of the disease is a mutation in the SHH gene.|MONDO|N|
C1840535|An abnormality affecting the carpal bones of the wrist (scaphoid, lunate, triquetral, pisiform, trapezium, trapezoid, capitate, hamate).|HPO|N|
C1840547|Abacavir is a nucleoside reverse transcriptase inhibitor indicated for the treatment of HIV infection, in combination with other medications, as part of highly active antiretroviral therapy. Although abacavir is generally well tolerated, ~5–8% of patients experience a hypersensitivity reaction (HSR) during the first 6 weeks of treatment. Suspicion of an HSR requires immediate discontinuation of abacavir. Drug re-challenge is contraindicated because immediate life-threatening reactions can occur. HLA-B is a member of the major histocompatibility complex gene family and patients with at least one HLA-B*57:01 allele may develop HSR when treated with abacavir. HLA-B allele status has no effect on abacavir pharmacodynamics or pharmacokinetics; it only influences the likelihood that an HSR will occur. Guidelines regarding the use of pharmacogenomic tests in dosing for abacavir have been published in Clinical Pharmacology and Therapeutics by the Clinical Pharmacogenetics Implementation Consortium (CPIC) and are available on the PharmGKB website.|PharmGKB|N|
C1840560|Acne inversa, also known as hidradenitis suppurativa, is a chronic relapsing inflammatory skin disease characterized by recurrent draining sinuses and abscesses, predominantly in skin folds that carry terminal hairs and apocrine glands. Healing occurs with substantial scarring (summary by Jansen et al., 2001). Squamous cell carcinoma is a rare but potentially lethal complication that may develop in affected skin (Nishimori et al., 2020).
Jansen et al. (2001) provided a detailed history and review of the disorder.
Genetic Heterogeneity of Familial Acne Inversa
Familial acne inversa-2 with or without Dowling-Degos disease (ACNINV2; 613736) is caused by mutation in the PSENEN gene (607632) on chromosome 19q13, and familial acne inversa-3 (ACNINV3; 613737) is caused by mutation in the PSEN1 gene (104311) on chromosome 14q24.|OMIM|N|
C1840572|Beukes hip dysplasia (HDB) is characterized by severe progressive degenerative osteoarthritis of the hip joint in early adulthood, with underlying dysplasia confined to that region. Affected individuals are of normal stature and have no associated health problems. Symptoms of hip joint discomfort usually develop in infancy or later childhood, but may present as late as the fourth decade. Phenotypic expression is age-related and variable in severity; penetrance is incomplete and has been estimated to be 80%. The earliest primary radiographic features of HDB include bilateral shortening and broadening of the femoral neck, delayed appearance of the secondary ossification center, coxa vara, displacement of the femoral head in the acetabulum, and overgrowth of the greater trochanters. After onset of symptoms, the characteristic signs of osteoarthritis develop, including bone sclerosis, cyst formation, and narrowing of the joint space, with rapid deterioration of the joint (summary by Watson et al., 2015).|OMIM|N|
C1840586|Hereditary progressive mucinous histiocytosis is a rare, benign, non-Langerhans cell histiocytosis characterized by childhood or adolescence onset of multiple, small, asymptomatic, slowly progressing, skin-colored to red-brown papules with predilection for the face, dorsal hands, forearms and legs, without associated mucosal or visceral involvement. Histologically, papules are well-circumscribed, unencapsulated, nodular aggregates of histiocytes with abundant mucin in the upper and middermis.|ORDO|N|
C1840598|Fetal hemoglobin (HbF) levels vary considerably in healthy normal adults. The distribution of HbF and F cells, erythrocytes that contain measurable HbF, in healthy adults is continuous, although most adults have HbF of less than 0.6% of total Hb. Approximately 10 to 15% of individuals have increases of HbF ranging from 0.8% to 5%,  a trait often referred to as hereditary persistence of fetal hemoglobin (HPFH), usually distributed unevenly among red cells. When coinherited with beta-thalassemia (see 613985) or sickle cell anemia (603903), HPFH can increase HbF output to levels that are clinically beneficial (Thein et al., 2007).
For a general phenotypic description and a discussion of loci that may affect fetal hemoglobin levels, see HBFQTL1 (141749).|OMIM|N|
C1840634|More than 2 billion people have been infected with the hepatitis B virus (HBV; see 610424), and more than 350 million of these people are chronic carriers. Each year more than half a million die as a result of acute or chronic HBV infection. Vaccination has been highly successful at preventing new HBV infections and has been implemented into the national immunization programs of more than 150 countries. However, the immune response to HBV vaccination varies greatly among individuals, with 5 to 10% of healthy adults failing to produce protective levels of antibodies. Several factors have been implicated in determining the response to HBV vaccination, including physical factors, such as age, gender, obesity, immunosuppression, and smoking, as well as variation in genes of the immune system (summary by Davila et al., 2010).|OMIM|N|
C1840643|Congenital diaphragmatic hernia (CDH) refers to a group of congenital defects in the structural integrity of the diaphragm which are often associated with lethal pulmonary hypoplasia and pulmonary hypertension. Prevalence in newborns ranges from 1 in 2,500 to 1 in 4,000, and there is a 30 to 60% mortality rate (Langham et al., 1996; Harrison et al., 1994; Nobuhara et al., 1996). Most cases of congenital diaphragmatic hernia are sporadic.
Genetic Heterogeneity of Diaphragmatic Hernia
Congenital diaphragmatic hernia-1 (DIH1) maps to chromosome 15q26. Also see DIH2 (222400), which maps to chromosome 8p23; DIH3 (610187), caused by mutation in the ZFPM2 gene (603693) on chromosome 8q23; DIH4 (620025), caused by mutation in the ALDH1A2 gene (603687) on chromosome 15q21; and DIH5 (306950), caused by mutation in the PLS3 gene (300131) on chromosome Xq23.
Congenital diaphragmatic hernia can also present with other congenital anomalies. Fryns syndrome (229850) may be the most common autosomal recessive syndrome with DIH as a cardinal feature (Slavotinek et al., 2005). See also thoracoabdominal syndrome (THAS; 313850), which maps to chromosome Xq25-q26.
Holder et al. (2007) reviewed the genetic factors in congenital diaphragmatic hernia. Pober (2008) reviewed genetic aspects of congenital diaphragmatic hernia, with emphasis on various syndromes in which CDH occurs along with other manifestations.|OMIM|N|
C1840779|Methemoglobinemia is a clinical condition in which more than 1% of hemoglobin is oxidized to methemoglobin, a type of hemoglobin that contains the ferric (Fe3+) form of iron. Patients with hemoglobin M are cyanotic but otherwise asymptomatic. If the mutation occurs in the hemoglobin alpha subunit (141800), cyanosis is apparent at birth, whereas if the beta chain is affected, cyanosis appears later or intensifies when beta subunit production increases. If a newborn carries a fetal M hemoglobin (gamma subunit; 142250), cyanosis disappears when the complete gamma-beta-switch occurs (summary by Mansouri and Lurie, 1993).|OMIM|N|
C1841621|Classic hereditary persistence of fetal hemoglobin (HPFH) is characterized by a substantial elevation of fetal hemoglobin (HbF) in adult red blood cells. There are no other phenotypic or hematologic manifestations. Expression of the HBG1 and HBG2 genes, which encode the gamma isoforms of HbF, is normally suppressed shortly before birth and replaced by expression of the beta- (HBB; 141900) or delta- (HBD; 142000) chains, which form adult hemoglobin. Adults normally have less than 1% HbF, whereas heterozygotes for HPFH have 5 to 30% HbF. HPFH heterozygotes have essentially normal red cell indices and a rather homogeneous distribution of HbF among red cells, termed 'pancellular.' Homozygotes for HPFH can express HbF in up to 100% of red blood cells (Thein and Craig, 1998).
Delta-beta thalassemia is a hemoglobin disorder characterized by decreased or absent synthesis of the delta- and beta-globin chains with a compensatory increase in expression of fetal gamma-chain synthesis from the affected chromosome. Individuals with delta-beta thalassemia have hypochromic, microcytic anemia and increased HbF, which may mitigate the anemia depending on the level of HbF. Delta-beta thalassemia and some forms of HPFH result from deletions within the beta-globin gene cluster on chromosome 11p15; this has been referred to as 'deletional' HPFH. HPFH can also result from point mutations in the promoter regions of the gamma globulin genes HBG1 and HBG2; this has been referred to as 'non-deletional' HPFH (Ottolenghi et al., 1982; Forget, 1998).
Forget (1998) noted that HPFH and delta-beta thalassemia are not clearly distinct disorders, but rather show partially overlapping features that may defy classification. Higher expression of HbF is often termed 'pancellular,' whereas lower expression of HbF is often termed 'heterocellular,' although these represent a spectrum.
Approximately 10% of the population has HPFH manifest as modest elevations of HbF (1 to 4%) present in a subset of red cells (about 4.5%) termed F cells. This is also sometimes referred to as 'heterocellular' HPFH, and is considered to be a multifactorial trait influenced by multiple genetic loci (Thein and Craig, 1998).|OMIM|N|
C1841639|Hemifacial spasm is usually diagnosed in persons in their mid-forties. It often begins with involuntary clonic contractions or twitching of the orbicularis oculi muscle and progresses to involve the entire musculature innervated by the facial nerve (summary by Coad et al., 1991 and Miwa et al., 2002).|OMIM|N|
C1841640|A malformation syndrome involving the abnormal growth of the facial skeleton as well as its soft tissue structure and organs. The syndrome has characteristics of mild facial asymmetry with unaffected neurocranium and eyeballs, along with esotropia, amblyopia and/or convergent strabismus and occasionally submucous cleft palate. Transmission is autosomal dominant. There have been no further descriptions in the literature since 1979.|SNOMEDCT_US|N|
C1841651|Heme oxygenase-1 deficiency (HMOX1D) is a rare autosomal recessive disorder with a complex clinical presentation including direct antibody negative hemolytic anemia, low bilirubin, and hyperinflammation (summary by Chau et al., 2020). Other features may include asplenia and nephritis (Radhakrishnan et al., 2011).|OMIM|N|
C1841654|A hemangioma that involves the small intestine.|MONDO|N|
C1841657|A very rare type of heart-hand syndrome described in three members of a Spanish family to date. The syndrome has characteristics of cardiac conduction defect (sick sinus, bundle-branch block) and brachydactyly, resembling brachydactyly type C of the hands, affecting principally the middle phalanges in conjunction with an extra ossicle on the proximal phalanx of both index fingers. Feet abnormalities are more subtle.|SNOMEDCT_US|N|
C1841658|Progressive familial heart block type II (PFHB2) is an autosomal dominant disorder, similar to type I progressive familial heart block (PFHB1; see 113900). The pattern of PFHB2, however, tends to develop along the lines of a sinus bradycardia with a left posterior hemiblock, presenting clinically as syncopal episodes, Stokes-Adams seizures, or sudden death when complete heart block supervenes (Brink and Torrington, 1977).|OMIM|N|
C1841661|A type of third degree heart block in which the escape rhythm arises at the atrioventricular node, which produces a narrow QRS complex.|HPO|N|
C1841679|Hand-foot-genital syndrome (HFGS) is characterized by limb malformations and urogenital defects. Mild-to-severe bilateral shortening of the thumbs and great toes, caused primarily by shortening of the distal phalanx and/or the first metacarpal or metatarsal, is the most common limb malformation and results in impaired dexterity or apposition of the thumbs. Urogenital malformations include abnormalities of the ureters and urethra and various degrees of incomplete müllerian fusion in females, and hypospadias of variable severity with or without chordee in males. Vesicoureteral reflux, recurrent urinary tract infections, and chronic pyelonephritis may occur; fertility is normal.|GeneReviews|N|
C1841680|The presence of a longitudinal vaginal septum, thereby creating a vaginal duplication.|HPO|N|
C1841684|Ossification of carpal bones occurs later than age-adjusted norms.|HPO|N|
C1841686|Aplasia of the hallux, that is, a development defect such that the big toe does not develop.|HPO|N|
C1841688|Short first metatarsal bone.|HPO|N|
C1841693|Emery-Nelson syndrome is a rare congenital limb malformation syndrome characterized by facial dysmorphism (high forehead, depressed nasal bridge, long philtrum, flat malar region, high arched palate), short stature and deformities of the hands and feet (small hands/feet, flexion contractures of the first three metacarpophalangeal joints, extension contractures of the thumbs at the interphalangeal joints, clawed toes, mild pes cavus). Additional features include neonatal hypotonia, thin and shiny skin of the hands/feet, ridged nails, dry and coarse hair, mild weakness of the orbicularis oculi muscles and occasional ventricular extrasystoles. Intellectual disability may be present. There have been no further descriptions in the literature since 1970.|ORDO|N|
C1841696|A rare hair anomaly characterised by symmetrical, congenital or early-onset, bilateral hypertrichosis localised on the extensor surfaces of the upper extremities (especially the elbows). Short stature, or other abnormalities, such as developmental delay, facial anomalies and intellectual disability, may or may not be associated.|SNOMEDCT_US|N|
C1841721|Achromatopsia is characterized by reduced visual acuity, pendular nystagmus, increased sensitivity to light (photophobia), a small central scotoma, eccentric fixation, and reduced or complete loss of color discrimination. All individuals with achromatopsia (achromats) have impaired color discrimination along all three axes of color vision corresponding to the three cone classes: the protan or long-wavelength-sensitive cone axis (red), the deutan or middle-wavelength-sensitive cone axis (green), and the tritan or short-wavelength-sensitive cone axis (blue). Most individuals have complete achromatopsia, with total lack of function of all three types of cones. Rarely, individuals have incomplete achromatopsia, in which one or more cone types may be partially functioning. The manifestations are similar to those of individuals with complete achromatopsia, but generally less severe. Hyperopia is common in achromatopsia. Nystagmus develops during the first few weeks after birth followed by increased sensitivity to bright light. Best visual acuity varies with severity of the disease; it is 20/200 or less in complete achromatopsia and may be as high as 20/80 in incomplete achromatopsia. Visual acuity is usually stable over time; both nystagmus and sensitivity to bright light may improve slightly. Although the fundus is usually normal, macular changes (which may show early signs of progression) and vessel narrowing may be present in some affected individuals. Defects in the macula are visible on optical coherence tomography.|GeneReviews|N|
C1841835|A rare osteogenesis imperfecta-like disorder, described in two patients to date, with clinical characteristics of persistent wormian bones, blue sclera, mandibular hypoplasia, shallow glenoid fossa, and campomelia. There have been no further descriptions in the literature since 1986.|SNOMEDCT_US|N|
C1841837|Gout is a common disorder resulting from tissue deposition of monosodium urate crystals as a consequence of hyperuricemia. Patients with gout experience very painful attacks caused by precipitation of urate in joints, which triggers subsequent inflammation. Elevated serum uric acid concentration is a key risk factor for gout (summary from Matsuo et al., 2009 and Woodward et al., 2011).
Genetic Heterogeneity of Serum Uric Acid Concentration Quantitative Trait Loci
See also UAQTL2 (see 612076), conferred by variation in the SLC2A9 gene (606142) on chromosome 4p16; UAQTL4 (612671), conferred by variation in the SLC17A3 gene (611034) on chromosome 6p22; UAQTL5 (614746), associated with a SNP on chromosome 19q13; UAQTL6 (614747), associated with a SNP on chromosome 1; and UAQTL7 (see 245450), caused by mutation in the LDHD gene (607490) on chromosome 16q23.|OMIM|N|
C1841853|A very rare syndrome characterized by the association of multinodular goiter, cystic renal disease and digital anomalies. It has been described in two siblings and one unrelated child. The two siblings had digitalized thumbs and preaxial polydactyly, the third child had normal thumbs and postaxial polydactyly. Goiter and/or digitalized thumbs and/or polydactyly were present in other members of families. This syndrome seems to be transmitted as an autosomal dominant trait with variable expression and incomplete penetrance.|SNOMEDCT_US|N|
C1841854|An extremely rare syndrome involving goniodysgenesis, intellectual disability and short stature in addition to microcephaly, short nose, small hands and ears, and that has been seen in one family to date. There have been no further descriptions in the literature since 1992.|SNOMEDCT_US|N|
C1841972|Generalized glucocorticoid resistance is an autosomal dominant disease characterized by increased plasma cortisol concentration and high urinary free cortisol, resistance to adrenal suppression by dexamethasone, and the absence of clinical stigmata of Cushing syndrome. The clinical expression of the disease is variable. Common features include hypoglycemia, hypertension, and metabolic alkalosis. In females, overproduction of adrenal androgens has been associated with infertility, male-pattern baldness, hirsutism, and menstrual irregularities. Other features include chronic fatigue and profound anxiety (summary by Chrousos et al., 1983; Donner et al., 2013).|OMIM|N|
C1841984|Glomuvenous malformations, also known as 'venous malformations with glomus cells' or glomangiomas, are similar to mucocutaneous venous malformations (VMCM; 600195), but clinically are distinguishable: they have a cobble-stone appearance, have a consistency harder than that of venous malformations, and are painful on palpation. Histologically, GVMs are distinguishable by the presence of pathognomonic rounded cells (glomus cells) around the distended vein-like channels. The term glomus (Latin for ball) stems from the morphologically similar contractile cells of the Sucquet-Hoyer arteriovenous anastomoses in glomus bodies that are involved in cutaneous thermoregulation. Glomus cells in GVMs appear to be incompletely or improperly differentiated vascular smooth muscle cells, since they stain positively with smooth muscle cell alpha-actin (102620) and vimentin (193060) (summary by Brouillard et al., 2002). The genetic distinctness of glomuvenous malformations from mucocutaneous venous malformations is indicated by the fact that mutations have been found in the TIE2/TEK gene (600221) in mucocutaneous venous malformations and not in glomuvenous malformations.|OMIM|N|
C1841990|Aplasia of the vagina.|HPO|N|
C1842025|Glaucoma-sleep apnea syndrome is characterized by sleep apnoea associated with glaucoma. It has been described in five members of a family (the mother and four of her children).|ORDO|N|
C1842028|Glaucoma is a group of eye disorders in which the optic nerves connecting the eyes and the brain are progressively damaged. This damage can lead to reduction in side (peripheral) vision and eventual blindness. Other signs and symptoms may include bulging eyes, excessive tearing, and abnormal sensitivity to light (photophobia). The term "early-onset glaucoma" may be used when the disorder appears before the age of 40.\n\nIn most people with glaucoma, the damage to the optic nerves is caused by increased pressure within the eyes (intraocular pressure). Intraocular pressure depends on a balance between fluid entering and leaving the eyes.\n\nUsually glaucoma develops in older adults, in whom the risk of developing the disorder may be affected by a variety of medical conditions including high blood pressure (hypertension) and diabetes mellitus, as well as family history. The risk of early-onset glaucoma depends mainly on heredity.\n\nOther individuals experience early onset of primary open-angle glaucoma, the most common adult form of glaucoma. If primary open-angle glaucoma develops during childhood or early adulthood, it is called juvenile open-angle glaucoma.\n\nStructural abnormalities that impede fluid drainage in the eye increase ocular pressure. These abnormalities may be present at birth and usually become apparent during the first year of life. Such structural abnormalities may be part of a genetic disorder that affects many body systems, called a syndrome. If glaucoma appears before the age of 3 without other associated abnormalities, it is called primary congenital glaucoma.|MedlinePlus Genetics|N|
C1842031|Anterior segment dysgeneses (ASGD or ASMD) are a heterogeneous group of developmental disorders affecting the anterior segment of the eye, including the cornea, iris, lens, trabecular meshwork, and Schlemm canal. The clinical features of ASGD include iris hypoplasia, an enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, an abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface (summary by Cheong et al., 2016).
Anterior segment dysgenesis is sometimes divided into subtypes including aniridia (see 106210), Axenfeld and Rieger anomalies, iridogoniodysgenesis, Peters anomaly, and posterior embryotoxon (Gould and John, 2002).
Patients with ASGD4 have been reported with iridogoniodysgenesis or Peters anomaly subtypes.
Iridogoniodysgenesis, which is characterized by iris hypoplasia, goniodysgenesis, and juvenile glaucoma, is the result of aberrant migration or terminal induction of the neural crest cells involved in the formation of the anterior segment of the eye (summary by Mears et al., 1996).
Peters anomaly consists of a central corneal leukoma, absence of the posterior corneal stroma and Descemet membrane, and a variable degree of iris and lenticular attachments to the central aspect of the posterior cornea (Peters, 1906).|OMIM|N|
C1842036|Congenital melanocytic nevus syndrome is characterized by pigmentary skin defects apparent at birth. Most individuals have 1 or more large or giant lesions greater than 20 cm and up to over 60 cm in diameter, which may cover up to 80% of total body area. These lesions may or may not be hairy. Smaller 'satellite' pigmented lesions numbering in the hundreds may also be present all over the body. Congenital melanocytic nevi (CMN) can be associated with malignant melanoma (see CMM1, 155600), but the risk appears to be low, ranging from 1 to 2% for all individuals, but rising to 10 to 15% in those with very large nevi (greater than 40 cm). A small subset of patients with CMNS have abnormalities of the central nervous system, known as 'neurocutaneous melanosis' or 'neuromelanosis' (249400), which may be symptomatic. Patients with CMNS also tend to have a characteristic facial appearance, including wide or prominent forehead, periorbital fullness, small short nose with narrow nasal bridge, round face, full cheeks, prominent premaxilla, and everted lower lip (summary by Kinsler et al., 2008; Kinsler et al., 2012).
Spitz nevi are benign melanocytic melanomas composed of epithelioid or spindle cell melanocytes. They usually present as solitary skin tumors but can occur in multiple patterns, having agminated, dermatomal, and disseminated forms (summary by Sarin et al., 2013). Nevus spilus, also known as speckled lentiginous nevus, is a congenital hyperpigmented patch that progressively evolves, with affected individuals developing dark macules and papules during childhood and adolescence. Over time, nevus spilus may give rise to common lentigines, melanocytic nevi, Spitz nevi, and melanomas (summary by Sarin et al., 2014).|OMIM|N|
C1842058|Craniosynostosis-intracranial calcifications syndrome is a form of syndromic craniosynostosis characterized by pancraniosynostosis, head circumference below the mid-parental head circumference, mild facial dysmorphism (prominent supraorbital ridges, mild proptosis and maxillary hypoplasia) and calcification of the basal ganglia. The disease is associated with a favorable neurological outcome, normal intelligence and is inherited in an autosomal recessive manner.|ORDO|N|
C1842060|Greater than average forward and/or lateral protrusion of the supraorbital portion of the frontal bones.|HPO|N|
C1842062|Autosomal dominant limb-girdle muscular dystrophy-2 (LGMDD2) is a myopathy characterized by proximal muscle weakness primarily affecting the lower limbs, but also affecting the upper limbs in most patients. Affected individuals also have distal muscle weakness of the hands and lower leg muscles. There is variability in presentation and progression. Some patients present in early childhood with mildly delayed walking and difficulty running and jumping, whereas others present as adults with mainly pelvic-girdle weakness. Patients with early onset tend to have a more severe disorder, and may develop contractures, loss of independent ambulation, and respiratory insufficiency. Muscle biopsy shows dystrophic changes with abnormal nuclei, rimmed vacuoles, and filamentous inclusions (summary by Melia et al., 2013).
For a phenotypic description and a discussion of genetic heterogeneity of autosomal dominant limb-girdle muscular dystrophy, see LGMDD1 (603511).|OMIM|N|
C1842073|Prolonged electroretinal response suppression-1 (PERRS1), also referred to as bradyopsia-1, is an autosomal recessive childhood-onset retinopathy characterized by markedly delayed dark and light adaptation, mild photophobia, difficulty seeing moving objects, moderately reduced visual acuity, normal color vision, normal fundi, and reduced rod and cone responses with prolonged recovery on electrophysiologic assessment (summary by Michaelides et al., 2010).
Genetic Heterogeneity of Prolonged Electroretinal Response Suppression
PERRS2 (620344) is caused by mutation in the RGS9BP gene (607814), which encodes the binding partner of RGS9 that anchors it to the photoreceptor outer segment disc membrane.|OMIM|N|
C1842082|Braddock syndrome is a rare malformation syndrome with multiple congenital abnormalities, described in 2 siblings, that is characterized by VACTERL -like association in combination with pulmonary hypertension, laryngeal webs, blue sclerae, abnormal ears, persistent growth deficiency and normal intellect.|ORDO|N|
C1842083|An anomaly of the rib.|HPO|N|
C1842084|Complete or partial merging of the posterior part of adjacent ribs.|HPO|N|
C1842090|Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the CD36 gene.|MONDO|N|
C1842108|An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 2p12.|MONDO|N|
C1842109|People with MCPH usually have few or no other features associated with the condition. Some have a narrow, sloping forehead; mild seizures; problems with attention or behavior; or short stature compared to others in their family. The condition typically does not affect any other major organ systems or cause other health problems.\n\nMCPH causes intellectual disability, which is typically mild to moderate and does not become more severe with age. Most affected individuals have delayed speech and language skills. Motor skills, such as sitting, standing, and walking, may also be mildly delayed.\n\nInfants with MCPH have an unusually small head circumference compared to other infants of the same sex and age. Head circumference is the distance around the widest part of the head, measured by placing a measuring tape above the eyebrows and ears and around the back of the head. Affected infants' brain volume is also smaller than usual, although they usually do not have any major abnormalities in the structure of the brain. The head and brain grow throughout childhood and adolescence, but they continue to be much smaller than normal.\n\nAutosomal recessive primary microcephaly (often shortened to MCPH, which stands for "microcephaly primary hereditary") is a condition in which infants are born with a very small head and a small brain. The term "microcephaly" comes from the Greek words for "small head."|MedlinePlus Genetics|N|
C1842124|Branchiootorenal spectrum disorder (BORSD) is characterized by malformations of the outer, middle, and inner ear associated with conductive, sensorineural, or mixed hearing impairment, branchial fistulae and cysts, and renal malformations ranging from mild renal hypoplasia to bilateral renal agenesis. Some individuals progress to end-stage renal disease (ESRD) later in life. Extreme variability can be observed in the presence, severity, and type of branchial arch, otologic, audiologic, and renal abnormality from right side to left side in an affected individual and also among individuals in the same family.|GeneReviews|N|
C1842127|Any retinitis pigmentosa in which the cause of the disease is a mutation in the CERKL gene.|MONDO|N|
C1842136|An autosomal dominant nonsyndromic deafness that is characterized by moderate loss for low and mid frequencies and mild loss for high frequencies and has material basis in variation in the chromosome region 1q21-q23.|MONDO|N|
C1842138|A progressive form of hearing impairment.|HPO|N|
C1842149|Disease with characteristics of short stature and premature degenerative arthropathy. It has been described in one multigenerational South African family of English white descent. The main clinical features may include proportionate short stature (less than fifth percentile for age), stocky habitus and early-onset progressive osteoarthropathy of the weight-bearing joints. Radiographic features are flattened vertebral bodies with sclerosis and prominent endplate irregularity and flattened femoral epiphyses. Caused by mutation in the aggrecan gene (AGC1, locus 15q26.1) and transmitted as an autosomal dominant trait.|SNOMEDCT_US|N|
C1842153|An irregular surface of the vertebral end plates, which are normally relatively smooth.|HPO|N|
C1842154|Increase in bone density of the vertebral body.|HPO|N|
C1842155|An abnormal flattening of the proximal epiphysis of the femur.|HPO|N|
C1842160|Autosomal dominant myosin storage congenital myopathy-7A (CMYP7A) is a skeletal muscle disorder with wide phenotypic variability. The age at symptom onset can range from early childhood to late adulthood. Affected individuals have proximal muscle weakness affecting the upper and lower limbs and distal muscle weakness of the lower limbs, resulting in gait difficulties and scapular winging (scapuloperoneal myopathy). Additional features may include thin habitus, high-arched palate, foot drop, pes cavus, calf pseudohypertrophy, and decreased reflexes. The severity is also variable: some patients develop respiratory insufficiency, joint contractures, and scoliosis in the first decades, whereas others are clinically unaffected, but show subtle signs of the disorder on examination. Serum creatine kinase may be normal or elevated. The disease is usually slowly progressive and most patients remain ambulatory. Skeletal muscle biopsy can show different abnormalities, including hyaline bodies, type 1 fiber predominance, congenital fiber-type disproportion (CFTD), and nonspecific myopathic changes with myofibrillar disarray. Intrafamilial variability is common (Dye et al., 2006; Pegoraro et al., 2007; review by Tajsharghi and Oldfors, 2013).
For a discussion of genetic heterogeneity of congenital myopathy, see CMYP1A (117000).|OMIM|N|
C1842162|Muscular atrophy in the distribution of shoulder girdle and peroneal muscles.|HPO|N|
C1842170|An abnormality in which the nuclei of sarcomeres take on an abnormally central localization (or in which this feature is found in an increased proportion of muscle cells).|HPO|N|
C1842180|Capillary malformation-arteriovenous malformation (CM-AVM) syndrome is characterized by the presence of multiple small (1-2 cm in diameter) capillary malformations mostly localized on the face and limbs. Some affected individuals also have associated arteriovenous malformations (AVMs) and/or arteriovenous fistulas (AFVs), fast-flow vascular anomalies that typically arise in the skin, muscle, bone, spine, and brain; life-threatening complications of these lesions can include bleeding, congestive heart failure, and/or neurologic consequences. Symptoms from intracranial AVMs/AVFs appear to occur early in life. Several individuals have Parkes Weber syndrome (multiple micro-AVFs associated with a cutaneous capillary stain and excessive soft-tissue and skeletal growth of an affected limb).|GeneReviews|N|
C1842186|Classic congenital or infantile nystagmus presents as conjugate, horizontal oscillations of the eyes, in primary or eccentric gaze, often with a preferred head turn or tilt. Other associated features may include mildly decreased visual acuity, strabismus, astigmatism, and occasionally head nodding. Eye movement recordings reveal that infantile nystagmus is predominantly a horizontal jerk waveform, with a diagnostic accelerating velocity slow phase. However, pendular and triangular waveforms may also be present. The nystagmus may rarely be vertical. As these patients often have normal visual acuity, it is presumed that the nystagmus represents a primary defect in the parts of the brain responsible for ocular motor control; thus the disorder has sometimes been termed 'congenital motor nystagmus' (Tarpey et al., 2006; Shiels et al., 2007).
For a discussion of genetic heterogeneity of congenital nystagmus, see NYS1 (310700).|OMIM|N|
C1842197|GDAP1-related hereditary motor and sensory neuropathy (GDAP1-HMSN) is a peripheral neuropathy (also known as a subtype of Charcot-Marie-Tooth disease) that typically affects the lower extremities earlier and more severely than the upper extremities. As the neuropathy progresses, the distal upper extremities also become severely affected. Proximal muscles can also become weak. Age at onset ranges from infancy to early childhood. In most cases, disease progression causes disabilities within the first or second decade of life. At the end of the second decade, most individuals are wheelchair bound. Disease progression varies considerably even within the same family. The neuropathy can be either of the demyelinating type with reduced nerve conduction velocities or the axonal type with normal nerve conduction velocities. Vocal cord paresis is common. Intelligence is normal. Life expectancy is usually normal, but on occasion may be reduced because of secondary complications.|GeneReviews|N|
C1842229|Abnormally broad metacarpal bones.|HPO|N|
C1842231|Increased side-to-side width of a metatarsal bone.|HPO|N|
C1842237|A rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 60 m/s). It presents with moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, feet deformities, extensor digitorum brevis atrophy). Findings in nerve biopsies include age-dependent axonal degeneration, reduced number of large myelinated fibers, segmental remyelination, and no onion bulbs.|SNOMEDCT_US|N|
C1842247|Coronary artery disease (CAD) and its most important complication, acute myocardial infarction (MI), are leading causes of death and disability in the developed world. Multiple risk factors for CAD/MI have been identified, including family history, hypertension, hypercholesterolemia, obesity, smoking, and diabetes. Several genomewide scans of affected sib pairs have identified susceptibility loci for CAD, e.g., 607339 and 300464.|OMIM|N|
C1842307|The association of ectodermal dysplasia (hypotrichosis and hypohidrosis) with acanthosis nigricans. So far, only eight cases have been described in the literature. Other clinical features may include palmoplantar hyperkeratosis, nail dystrophy, intellectual deficit and hypodontia. Transmission is autosomal recessive.|SNOMEDCT_US|N|
C1842342|An autosomal recessive disorder caused by mutations in the HGF gene, encoding hepatocyte growth factor. It is characterized by profound deafness.|NCI|N|
C1842345|An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 22q11.21-q12.1.|MONDO|N|
C1842357|A hereditary demyelinating motor and sensory neuropathy with characteristics of slowed nerve conduction velocities in the absence of clinically apparent neurological deficits, gait abnormalities or muscular atrophy, associated with a germline mutation in the ARGHEF10 gene.|SNOMEDCT_US|N|
C1842362|Hermansky-Pudlak syndrome (HPS) is characterized by oculocutaneous albinism, a bleeding diathesis, and, in some individuals, pulmonary fibrosis, granulomatous colitis, or immunodeficiency. Ocular findings include reduced iris pigment with iris transillumination, reduced retinal pigment, foveal hypoplasia with significant reduction in visual acuity (usually in the range of 20/50 to 20/400), nystagmus, and increased crossing of the optic nerve fibers. Hair color ranges from white to brown; skin color ranges from white to olive and is usually a shade lighter than that of other family members. The bleeding diathesis can result in variable bruising, epistaxis, gingival bleeding, postpartum hemorrhage, colonic bleeding, and prolonged bleeding with menses or after tooth extraction, circumcision, and other surgeries. Pulmonary fibrosis, a restrictive lung disease, typically causes symptoms in the early thirties and can progress to death within a decade. Granulomatous colitis is severe in about 15% of affected individuals. Neutropenia and/or immune defects occur primarily in individuals with pathogenic variants in AP3B1 and AP3D1.|GeneReviews|N|
C1842363|Cataract-congenital heart disease-neural tube defect syndrome is a multiple congenital anomaly syndrome characterized by sacral neural tube defects resulting in tethered cord, atrial and/or ventricular septal heart defects (that are detected in infancy), bilateral, symmetrical hyperopia, rapidly progressive early childhood cataracts, bilateral aphakic glaucoma, and abnormal facial features (low frontal hairline, small ears, short philtrum, prominent, widely spaced central incisors, and micrognathia). Hypotonia, growth and developmental delay, seizures, and joint limitation are also reported.|ORDO|N|
C1842366|Distance between the hairline (trichion) and the glabella (the most prominent point on the frontal bone above the root of the nose), in the midline, more than two SD below the mean. Alternatively, an apparently decreased distance between the hairline and the glabella.|HPO|N|
C1842371|Autosomal dominant deafness-41 (DFNA41) is characterized by onset of progressive sensorineural hearing loss usually in the second decade. The hearing loss is severe and ultimately affects all frequencies. Exposure to noise exacerbates the hearing loss, particularly at high frequencies (summary by Yan et al., 2013).|OMIM|N|
C1842372|Aspirin (acetylsalicylic acid) is a classic nonsteroidal antiinflammatory agent that irreversibly inhibits type I cyclooxygenase (PTGS1, or COX1; 176805) in platelets, resulting in decreased production of thromboxane A2 (TXA2) and inhibition of platelet aggregation. Because of this feature, it is used therapeutically to prevent cardiothrombotic events. Individuals show a variable response to the drug, referred to as aspirin ineffectiveness or resistance, in which not all individuals or populations appear to receive the full prophylactic or therapeutic benefits (summary by Zhou et al., 2011).
Halushka and Halushka (2002) discussed a possible basis for resistance to the cardioprotective effect of aspirin.|OMIM|N|
C1842381|An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 6q26-q27.|MONDO|N|
C1842398|Immunodeficiency-73A with defective neutrophil chemotaxis and leukocytosis (IMD73A) is an immunologic disorder characterized by onset of recurrent infections in early infancy. Affected infants have periumbilical erythema and later develop skin abscesses and invasive infections. Laboratory studies show leukocytosis, neutrophilia, decreased TRECs, and T-cell abnormalities. Neutrophils showed decreased chemotaxis associated with actin polymerization abnormalities, as well as variably impaired oxidative responses. Hematopoietic stem cell transplant may be curative (summary by Accetta et al., 2011; review by Lougaris et al., 2020).
In a review of autosomal forms of chronic granulomatous disease (see 306400 for genetic heterogeneity of CGD), Roos et al. (2021) noted that patients with RAC2 mutations may manifest CGD-like symptoms due to defects in neutrophil NADPH oxidase activity.|OMIM|N|
C1842402|A rare pancreatic disease of juvenile onset occurring mainly in tropical developing countries and characterized by chronic non-alcoholic pancreatitis manifesting with abdominal pain, steatorrhea and fibrocalculous pancreatopathy. It is also commonly associated with the development of pancreatic calculi and pancreatic cancer at a much higher frequency than seen in ordinary chronic pancreatitis.|ORDO|N|
C1842404|Ketosis-resistant diabetes is a synonym for type II diabetes. This term thus refers to a form of type II diabetes in which patients are dependent on insulin.|HPO|N|
C1842406|The presence of abnormal calcium deposition lesions in the pancreas.|HPO|N|
C1842413|Hyper-IgM syndrome is a condition characterized by normal or increased serum IgM concentrations associated with low or absent serum IgG, IgA, and IgE concentrations, indicating a defect in the class-switch recombination (CSR) process (summary by Imai et al., 2003).
For a discussion of genetic heterogeneity of immunodeficiency with hyper-IgM, see HIGM1 (308230).|OMIM|N|
C1842422|Any non-syndromic synpolydactyly in which the cause of the disease is a mutation in the FBLN1 gene.|MONDO|N|
C1842445|The autoimmune thyroid disorders, or AITDs, comprise 2 related disorders, Graves disease (GD; 275000) and Hashimoto thyroiditis (HT; 140300). See 608173.|OMIM|N|
C1842462|A rare skeletal dysplasia with characteristics of peculiar facial anomalies, Pierre Robin sequence, cleft palate, shortening and bowing of long bones. Sexual ambiguity or female external genitalia is possible individuals with a male karyotype. The disorder is autosomal dominant; however, most cases are due to heterozygous de novo mutations in the SOX9 gene (localized to 17q24). In rare individuals the disorder is caused by chromosomal recombination (deletion or translocation) involving the region 17q24.|SNOMEDCT_US|N|
C1842464|Nablus mask-like facial syndrome (NMLFS) is a rare entity defined by distinctive facial features, including blepharophimosis, tight-appearing glistening facial skin, an abnormal hair pattern with an upswept frontal hairline, sparse arched eyebrows, flat and broad nose, long philtrum, distinctive ears, and a happy demeanor (summary by Jain et al., 2010).|OMIM|N|
C1842465|Lipodystrophy-intellectual disability-deafness syndrome is an extremely rare form of genetic lipodystrophy (see this term), reported in 3 patients from one family to date, characterized by generalized congenital lipodystrophy, low birth weight, progressive sensorineural deafness occurring in childhood, intellectual deficit, progressive osteopenia, delayed skeletal maturation, skeletal abnormalities described as slender, undermineralized tubular bones, and dense metaphyseal striations in the distal femur, ulna and radius of older patients. Autosomal recessive inheritance has been suggested.|ORDO|N|
C1842475|A retinitis pigmentosa that has material basis in mutation in the PRPH2 gene on chromosome 6p21.|MONDO|N|
C1842486|Transient neonatal zinc deficiency occurs in breast-fed infants as a consequence of low milk zinc concentration in their nursing mothers, which cannot be corrected by maternal zinc supplementation. A large amount of zinc, an essential trace mineral, is required for normal growth particularly in infants, and breast milk normally contains adequate zinc to meet the requirement for infants up to 4 to 6 months of age. Zinc deficiency can lead to dermatitis, alopecia, decreased growth, and impaired immune function. The disorder shows autosomal dominant inheritance with incomplete penetrance (summary by Chowanadisai et al., 2006).
Some aspects of TNZD resemble the more severe disorder acrodermatitis enteropathica (AEZ; 201100), an autosomal recessive disorder caused by mutation in the zinc transporter SLC39A4 (607059). However, infants with transient neonatal zinc deficiency do not require zinc supplementation following weaning and have normal zinc absorption, whereas those with AEZ require lifelong zinc supplementation (summary by Chowanadisai et al., 2006).|OMIM|N|
C1842528|An impairment of the class-switch recombination process that normally leads B lymphocytes to produce IgG, IgA, or IgE.|HPO|N|
C1842531|Rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp (EPRPDC) is an autosomal recessive neurologic disorder characterized by onset of focal seizures in infancy and exercise-induced dystonia in childhood. Features usually include involuntary movements, including facial movements, and difficulties with fine motor skills of the hand. Seizures often respond to medication and remit with age; the dystonia tends to persist (summary by Luthy et al., 2019).|OMIM|N|
C1842534|The phenotypic spectrum of glucose transporter type 1 deficiency syndrome (Glut1 DS) is now known to be a continuum that includes the classic phenotype as well as paroxysmal exercise-induced dyskinesia and epilepsy (previously known as dystonia 18 [DYT18]) and paroxysmal choreoathetosis with spasticity (previously known as dystonia 9 [DYT9]), atypical childhood absence epilepsy, myoclonic astatic epilepsy, and paroxysmal non-epileptic findings including intermittent ataxia, choreoathetosis, dystonia, and alternating hemiplegia. The classic phenotype is characterized by infantile-onset seizures, delayed neurologic development, acquired microcephaly, and complex movement disorders. Seizures in classic early-onset Glut1 DS begin before age six months. Several seizure types occur: generalized tonic or clonic, focal, myoclonic, atypical absence, atonic, and unclassified. In some infants, apneic episodes and abnormal episodic eye-head movements similar to opsoclonus may precede the onset of seizures. The frequency, severity, and type of seizures vary among affected individuals and are not related to disease severity. Cognitive impairment, ranging from learning disabilities to severe intellectual disability, is typical. The complex movement disorder, characterized by ataxia, dystonia, and chorea, may occur in any combination and may be continuous, paroxysmal, or continual with fluctuations in severity influenced by environmental factors such as fasting or with infectious stress. Symptoms often improve substantially when a ketogenic diet is started.|GeneReviews|N|
C1842552|Muscular atrophy affecting the muscles of the limb girdle.|HPO|N|
C1842564|Rare genetic epilepsy with characteristics of mostly benign simple or complex partial seizures with autonomic or psychic auras. Seizures occur infrequently, are of short duration and are usually well controlled with medication. Development and cognition are normal.|SNOMEDCT_US|N|
C1842577|Classic Joubert syndrome (JS) is characterized by three primary findings: A distinctive cerebellar and brain stem malformation called the molar tooth sign (MTS). Hypotonia. Developmental delays. Often these findings are accompanied by episodic tachypnea or apnea and/or atypical eye movements. In general, the breathing abnormalities improve with age, truncal ataxia develops over time, and acquisition of gross motor milestones is delayed. Cognitive abilities are variable, ranging from severe intellectual disability to normal. Additional findings can include retinal dystrophy, renal disease, ocular colobomas, occipital encephalocele, hepatic fibrosis, polydactyly, oral hamartomas, and endocrine abnormalities. Both intra- and interfamilial variation are seen.|GeneReviews|N|
C1842581|Abnormality of the corpus callosum.|HPO|N|
C1842586|The hereditary sensory and autonomic neuropathies (HSAN), which are also referred to as hereditary sensory neuropathies (HSN) in the absence of significant autonomic features, are a genetically and clinically heterogeneous group of disorders associated with sensory dysfunction. For a discussion of genetic heterogeneity of HSAN, see HSAN1A (162400).|OMIM|N|
C1842587|An axonal neuropathy of peripheral sensory nerves.|HPO|N|
C1842605|A schizophrenia that has material basis in a mutation on chromosome 10q22.3.|MONDO|N|
C1842632|Autism, the prototypic pervasive developmental disorder (PDD), is usually apparent by 3 years of age. It is characterized by a triad of limited or absent verbal communication, a lack of reciprocal social interaction or responsiveness, and restricted, stereotypic, and ritualized patterns of interests and behavior (Bailey et al., 1996; Risch et al., 1999). 'Autism spectrum disorder,' sometimes referred to as ASD, is a broader phenotype encompassing the less severe disorders Asperger syndrome (see ASPG1; 608638) and pervasive developmental disorder, not otherwise specified (PDD-NOS). 'Broad autism phenotype' includes individuals with some symptoms of autism, but who do not meet the full criteria for autism or other disorders. Impaired intellectual development coexists in approximately two-thirds of individuals with ASD, except for Asperger syndrome, in which impaired intellectual development is conspicuously absent (Jones et al., 2008). Genetic studies in autism often include family members with these less stringent diagnoses (Schellenberg et al., 2006).
For a discussion of genetic heterogeneity of autism, see 209850.
See also chromosome 13q14 deletion syndrome (613884), in which retinoblastoma and impaired intellectual development are features.|OMIM|N|
C1842643|Malignant melanoma is a neoplasm of pigment-producing cells called melanocytes that occurs most often in the skin, but may also occur in the eyes, ears, gastrointestinal tract, leptomeninges, and oral and genital mucous membranes (summary by Habif, 2010).
For a discussion of genetic heterogeneity of cutaneous malignant melanoma (CMM), see 155600.|OMIM|N|
C1842674|A neurodegenerative disease with characteristics of progressive muscular paralysis reflecting degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem and spinal cord. Cytogenetic location is 20p13.|SNOMEDCT_US|N|
C1842676|A rare genetic autosomal recessive cerebellar ataxia disease with characteristics of nonprogressive cerebellar ataxia, with onset in infancy, manifesting with delayed motor and speech development, gait ataxia, dysmetria, hypotonia, increased deep tendon reflexes and dysarthria. Additional variable manifestations include moderate nystagmus on lateral gaze, mild spasticity, intention tremor, short stature and pes planus. Brain imaging reveals cerebellar vermis atrophy.|SNOMEDCT_US|N|
C1842680|Reduced volume of the earlobe.|HPO|N|
C1842681|Underdevelopment of the helix, i.e., of the outer rim of the pinna.|HPO|N|
C1842687|Pontocerebellar hypoplasia (PCH) refers to a heterogeneous group of disorders characterized by an abnormally small cerebellum and brainstem. Clinical features vary, but usually include severe developmental delay, dysmorphic features, seizures, and early death (summary by Durmaz et al., 2009).
For a phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1 (607596).|OMIM|N|
C1842688|Underdevelopment of the brainstem.|HPO|N|
C1842691|Diaphanospondylodysostosis is a rare, recessively inherited, perinatal lethal skeletal disorder. The primary skeletal characteristics include small chest, abnormal vertebral segmentation, and posterior rib gaps containing incompletely differentiated mesenchymal tissue. Consistent craniofacial features include ocular hypertelorism, epicanthal folds, depressed nasal bridge with short nose, and low-set ears. The most commonly described extraskeletal finding is nephroblastomatosis with cystic kidneys, but other visceral findings have been described in some cases (summary by Funari et al., 2010).|OMIM|N|
C1842695|Lack of formation and mineralization of the ribs in utero.|HPO|N|
C1842696|Radiolucent focal defect of the posterior portion of a rib shaft. The 'gaps' may lead to flail chest.|HPO|N|
C1842704|Gaucher disease (GD) encompasses a continuum of clinical findings from a perinatal lethal disorder to an asymptomatic type. The identification of three major clinical types (1, 2, and 3) and two other subtypes (perinatal-lethal and cardiovascular) is useful in determining prognosis and management. GD type 1 is characterized by the presence of clinical or radiographic evidence of bone disease (osteopenia, focal lytic or sclerotic lesions, and osteonecrosis), hepatosplenomegaly, anemia and thrombocytopenia, lung disease, and the absence of primary central nervous system disease. GD types 2 and 3 are characterized by the presence of primary neurologic disease; in the past, they were distinguished by age of onset and rate of disease progression, but these distinctions are not absolute. Disease with onset before age two years, limited psychomotor development, and a rapidly progressive course with death by age two to four years is classified as GD type 2. Individuals with GD type 3 may have onset before age two years, but often have a more slowly progressive course, with survival into the third or fourth decade. The perinatal-lethal form is associated with ichthyosiform or collodion skin abnormalities or with nonimmune hydrops fetalis. The cardiovascular form is characterized by calcification of the aortic and mitral valves, mild splenomegaly, corneal opacities, and supranuclear ophthalmoplegia. Cardiopulmonary complications have been described with all the clinical subtypes, although varying in frequency and severity.|GeneReviews|N|
C1842763|Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) is an immunoosseous dysplasia combining the typical metaphyseal and vertebral bone lesions of spondyloenchondrodysplasia (SPENCD) with immune dysfunction and neurologic involvement. The skeletal dysplasia is characterized by radiolucent and irregular spondylar and metaphyseal lesions that represent islands of chondroid tissue within bone. The vertebral bodies show dorsally accentuated platyspondyly with disturbance of ossification. Clinical abnormalities such as short stature, rhizomelic micromelia, increased lumbar lordosis, barrel chest, facial anomalies, and clumsy movements may be present (Menger et al., 1989). Central nervous system involvement includes spasticity, mental retardation, and cerebral calcifications, and immune dysregulation ranges from autoimmunity to immunodeficiency. Neurologic and autoimmune manifestations have been observed in different combinations within a single family, suggesting that this disorder may be defined by specific radiographic features but has remarkably pleiotropic manifestations (Renella et al., 2006). Briggs et al. (2016) also noted variability in skeletal, neurologic, and immune phenotypes, which was sometimes marked between members of the same family.
Classification of the Enchondromatoses
In their classification of the enchondromatoses, Spranger et al. (1978) called Ollier disease and Maffucci syndrome types I and II enchondromatosis, respectively; metachondromatosis (156250), type III; and spondyloenchondrodysplasia (SPENCD), also called spondyloenchondromatosis, type IV; enchondromatosis with irregular vertebral lesions, type V; and generalized enchondromatosis, type VI. Halal and Azouz (1991) added 3 tentative categories to the 6 in the classification of Spranger et al. (1978).
Pansuriya et al. (2010) suggested a new classification of enchondromatosis (multiple enchondromas).|OMIM|N|
C1842774|A hyperpigmented circumscribed area of change in normal skin color without elevation or depression of any size.|HPO|N|
C1842777|Increased susceptibility to upper and lower respiratory tract infections, as manifested by recurrent episodes of upper and lower respiratory tract infections.|HPO|N|
C1842778|Any atrial heart septal defect in which the cause of the disease is a mutation in the GATA4 gene.|MONDO|N|
C1842816|Any retinitis pigmentosa in which the cause of the disease is a mutation in the FSCN2 gene.|MONDO|N|
C1842820|Any anomaly of the progression of electrical impulses through the heart.|HPO|N|
C1842836|Congenital disorder of glycosylation type Ii (CDG1I) is a rare autosomal recessive disorder characterized by neurologic involvement, including a convulsive syndrome of unknown origin, axial hypotonia, and mental and motor regression (summary by Papazoglu et al., 2021).
For a general discussion of CDGs, see CDG1A (212065).|OMIM|N|
C1842839|Hypotrichosis-6 (HYPT6) is a localized autosomal recessive hypotrichosis characterized by fragile hairs that break easily, leaving short, sparse scalp hairs. The disorder affects the trunk and extremities as well as the scalp, and the eyebrows and eyelashes may also be involved, whereas beard, pubic, and axillary hairs are largely spared. In addition, patients can develop hyperkeratotic follicular papules, erythema, and pruritus in affected areas. In some patients with congenital hypotrichosis, monilethrix-like hairs showing elliptical nodes have been observed (summary by Schaffer et al., 2006).
Genetic Heterogeneity of Autosomal Recessive Localized Hypotrichosis
LAH2 (HYPT7; 604379) is caused by mutation in the LIPH gene (607365) on chromosome 3q27, and LAH3 (HYPT8; 278150) is caused by mutation in the LPAR6 (P2RY5) gene (609239) on chromosome 13q14.12-q14.2.
See also hypotrichosis and recurrent skin vesicles (613102), which is caused by mutation in the DSC3 gene (600271).|OMIM|N|
C1842852|Familial adult myoclonic epilepsy-2 (FAME2) is an autosomal dominant neurologic disorder characterized by onset of tremor affecting the fingers, hand, and voice in adolescence or young adulthood with somewhat later onset of rhythmic myoclonic jerks and generalized tonic-clonic seizures. Electrophysiologic studies are consistent with cortical reflex myoclonus. Some patients may show cognitive decline or migraines; photosensitivity is common (summary by De Fusco et al., 2014; Crompton et al., 2012).
For a phenotypic description and a discussion of genetic heterogeneity of familial adult myoclonic epilepsy, see FAME1 (601068).|OMIM|N|
C1842870|The constitutional deletion of chromosome 1p36 results in a syndrome with multiple congenital anomalies and mental retardation (Shapira et al., 1997). Monosomy 1p36 is the most common terminal deletion syndrome in humans, occurring in 1 in 5,000 births (Shaffer and Lupski, 2000; Heilstedt et al., 2003).
See also neurodevelopmental disorder with or without anomalies of the brain, eye, or heart (NEDBEH; 616975), which shows overlapping features and is caused by heterozygous mutation in the RERE gene (605226) on proximal chromosome 1p36.
See also Radio-Tartaglia syndrome (RATARS; 619312), caused by mutation in the SPEN gene (613484) on chromosome 1p36, which shows overlapping features.|OMIM|N|
C1842876|Lack of prominence of the nose resulting from a posteriorly-placed nasal ridge.|HPO|N|
C1842878|Hypoplasia (congenital reduction in size) of the fifth finger, also known as the little finger.|HPO|N|
C1842884|Caudal duplication (CD) is a rare developmental anomaly in which structures derived from the embryonic cloaca and notochord are duplicated to varying extents.|ORDO|N|
C1842898|Symptoms of late-onset LAMA2-related muscular dystrophy become evident later in childhood or adulthood, and are similar to those of a group of muscle disorders classified as limb-girdle muscular dystrophies. In late-onset LAMA2-related muscular dystrophy, the muscles most affected are those closest to the body (proximal muscles), specifically the muscles of the shoulders, upper arms, pelvic area, and thighs. Children with late-onset LAMA2-related muscular dystrophy sometimes have delayed development of motor skills such as walking, but generally achieve the ability to walk without assistance. Over time, they may develop rigidity of the back, joint contractures, scoliosis, and breathing problems. However, most affected individuals retain the ability to walk and climb stairs.\n\nAs affected children grow, they often develop an abnormal, gradually worsening side-to-side curvature of the spine (scoliosis) and inward curvature of the back (lordosis). Children with early-onset LAMA2-related muscular dystrophy often do not develop the ability to walk. Difficulty with speech may result from weakness of the facial muscles and an enlarged tongue. Seizures occur in about a third of individuals with early-onset LAMA2-related muscular dystrophy; rarely, heart complications occur in this form of the disorder.\n\nEarly-onset LAMA2-related muscular dystrophy is apparent at birth or within the first few months of life. It is considered part of a class of muscle disorders called congenital muscular dystrophies and is sometimes called congenital muscular dystrophy type 1A. Affected infants may have severe muscle weakness, lack of muscle tone (hypotonia), little spontaneous movement, and joint deformities (contractures). Weakness of the muscles in the face and throat can result in feeding difficulties and an inability to grow and gain weight at the expected rate. Respiratory insufficiency, which occurs when muscles in the chest are weakened, causes a weak cry and breathing problems that can lead to frequent, potentially life-threatening lung infections.\n\nLAMA2-related muscular dystrophy is a disorder that causes weakness and wasting (atrophy) of muscles used for movement (skeletal muscles). This condition varies in severity, from a severe, early-onset type to a milder, late-onset form.|MedlinePlus Genetics|N|
C1842914|Adult-onset foveomacular vitelliform dystrophy, also known as adult vitelliform macular dystrophy, adult-type foveomacular dystrophy, adult vitelliform macular degeneration, pseudovitelliform macular degeneration, and adult-onset foveomacular pigment epithelial dystrophy, is characterized by a solitary, oval, slightly elevated yellowish subretinal lesion of the fovea that is similar in appearance to the vitelliform or egg-yolk stage of Best disease (153700). Initially the yellow lesion may be present in only one eye. The size is generally one-third to one disc diameter, and small yellow flecks are seen in the paracentral lesion. Patients usually become symptomatic in the fourth or fifth decade of life with a protracted decrease of visual acuity and mild metamorphopsia. Electrooculographic testing reveals a normal or only slightly reduced Arden ratio, which is intensely abnormal in Best disease. The prognosis is optimistic, as most patients retain reading vision throughout life (Felbor et al., 1997; Yamaguchi et al., 2001).
For a discussion of genetic heterogeneity of vitelliform macular dystrophy, see VMD1 (153840).|OMIM|N|
C1842930|Nonimmune chronic idiopathic neutropenia of adults (NI-CINA) is a relatively mild form of neutropenia diagnosed in adults but predisposing to leukemia in a subset of patients (Papadaki et al., 2002).|OMIM|N|
C1842937|Altmann (1955) was the first to describe a congenital aural atresia (CAA) classification, which has been modified over the years (Cremers et al., 1988; Schuknecht, 1989; Jahrsdoerfer et al., 1992). In CAA type I, there is bony or fibrous atresia of the lateral part of the external auditory canal and an almost normal medial part and middle ear. CAA type II is the most frequent type and is characterized by partial or total aplasia of the external auditory canal. CAA type IIA involves an external auditory canal with either complete bony atresia of the medial part or partial aplasia that ends blindly in a fistula leading to a rudimentary tympanic membrane. CAA type IIB is characterized by bony stenosis of the total length of the external auditory canal. CAA type III involves bony atresia of the external auditory canal and a very small or absent middle-ear cavity (summary by Feenstra et al., 2011).|OMIM|N|
C1842939|Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MYO1A gene.|MONDO|N|
C1842979|Any autoimmune disease in which the cause of the disease is a mutation in the FOXD3 gene.|MONDO|N|
C1842981|Personality trait related to tendency to respond to threat, frustration or a loss with negative emotions (e.g., ANGER; ANXIETY; FRUSTRATION; embarrassment and sadness).|MSH|N|
C1842982|Focal segmental glomerulosclerosis (FSGS) is a pathologic entity associated clinically with proteinuria, the nephrotic syndrome (NPHS), and progressive loss of renal function. It is a common cause of end-stage renal disease (ESRD) (Meyrier, 2005).
For a general phenotypic description and a discussion of genetic heterogeneity of focal segmental glomerulosclerosis and nephrotic syndrome, see FSGS1 (603278).|OMIM|N|
C1842983|A severe early-onset form of axonal Charcot-Marie-Tooth peripheral sensorimotor polyneuropathy. Onset occurs in the neonatal period or early infancy with a clinical picture including hypotonia, scoliosis, a hoarse voice, vocal cord paralysis and respiratory insufficiency. However, nerve conduction velocities and pathological findings from sural nerve biopsies are indicative of a predominantly axonal neuropathy with some demyelinating features. Caused by mutations in the GDAP1 gene (8q13.3), encoding a protein required for mitochondrial fission.|SNOMEDCT_US|N|
C1842984|A rare form of axonal Charcot-Marie-Tooth peripheral sensorimotor polyneuropathy with characteristics of a mild phenotype, onset during the second decade of life and very slow progression. Walking ability is retained. Caused by mutations in the GDAP1 gene (8q13.3), encoding a protein required for mitochondrial fission.|SNOMEDCT_US|N|
C1843003|Patients with MVP2 have nonsyndromic MVP of variable severity inherited as an autosomal dominant trait.
For a general phenotypic description and discussion of genetic heterogeneity of mitral valve prolapse, see MVP1 (157700).|OMIM|N|
C1843004|Hypotrichosis-lymphedema-telangiectasia syndrome is an autosomal recessive disorder characterized by these 3 features, which begin at birth or in early childhood and are progressive (summary by Irrthum et al., 2003).|OMIM|N|
C1843005|Lack of eyelashes.|HPO|N|
C1843013|Alzheimer's disease can be classified as early-onset or late-onset. The signs and symptoms of the early-onset form appear between a person's thirties and mid-sixties, while the late-onset form appears during or after a person's mid-sixties. The early-onset form of Alzheimer's disease is much less common than the late-onset form, accounting for less than 10 percent of all cases of Alzheimer's disease.\n\nIndividuals with Alzheimer's disease usually survive 8 to 10 years after the appearance of symptoms, but the course of the disease can range from 1 to 25 years. Survival is usually shorter in individuals diagnosed after age 80 than in those diagnosed at a younger age. In Alzheimer's disease, death usually results from pneumonia, malnutrition, or general body wasting (inanition).\n\nAs the disorder progresses, some people with Alzheimer's disease experience personality and behavioral changes and have trouble interacting in a socially appropriate manner. Other common symptoms include agitation, restlessness, withdrawal, and loss of language skills. People with Alzheimer's disease usually require total care during the advanced stages of the disease.\n\nMemory loss is the most common sign of Alzheimer's disease. Forgetfulness may be subtle at first, but the loss of memory worsens over time until it interferes with most aspects of daily living. Even in familiar settings, a person with Alzheimer's disease may get lost or become confused. Routine tasks such as preparing meals, doing laundry, and performing other household chores can be challenging. Additionally, it may become difficult to recognize people and name objects. Affected people increasingly require help with dressing, eating, and personal care.\n\nAlzheimer's disease is a degenerative disease of the brain that causes dementia, which is a gradual loss of memory, judgment, and ability to function. This disorder usually appears in people older than age 65, but less common forms of the disease appear earlier in adulthood.|MedlinePlus Genetics|N|
C1843028|Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MYO6 gene.|MONDO|N|
C1843042|Craniolenticulosutural dysplasia is characterized by facial dysmorphism, late-closing fontanels, cataract, and skeletal defects (summary by Boyadjiev et al., 2011).|OMIM|N|
C1843057|Muscle hypertrophy affecting the calf muscles.|HPO|N|
C1843075|A rare hereditary motor and sensory neuropathy with characteristics of intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both axonal degeneration and demyelination without onion bulbs in nerve biopsies. It presents with usual Charcot-Marie-Tooth disease clinical features of variable severity (progressive muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings in some of the families include debilitating neuropathic pain and mild postural/kinetic upper limb tremor.|SNOMEDCT_US|N|
C1843077|A segmental pattern of demyelination and regeneration (remyelination) affecting peripheral nerves.|HPO|N|
C1843096|Acrocapitofemoral dysplasia (ACFD) is an autosomal recessive skeletal dysplasia characterized by postnatal-onset disproportionate short stature, relatively large head, narrow thorax, lumbar lordosis, short limbs, and brachydactyly with small broad nails (Ozyavuz Cubuk and Duz, 2021).|OMIM|N|
C1843105|An abnormal enlargement of the distal epiphysis of the femur.|HPO|N|
C1843108|Short palm.|HPO|N|
C1843112|Increased width of nail.|HPO|N|
C1843116|Congenital defects of bile acid synthesis are autosomal recessive disorders characterized by neonatal onset of progressive liver disease with cholestatic jaundice and malabsorption of lipids and lipid-soluble vitamins from the gastrointestinal tract resulting from a primary failure to synthesize bile acids. Affected infants show failure to thrive and secondary coagulopathy. In most forms of the disorder,  there is a favorable response to oral bile acid therapy (summary by Cheng et al., 2003).
Genetic Heterogeneity of Congenital Defects in Bile Acid Synthesis
There are several disorders that result from defects in bile acid synthesis. See CBAS2 (235555), caused by mutation in the delta(4)-3-oxosteroid 5-beta-reductase gene (AKR1D1; 604741) on chromosome 7q33; CBAS3 (613812), caused by mutation in the 7-alpha hydroxylase gene (CYP7B1; 603711) on chromosome 8q12; CBAS4 (214950), caused by mutation in the AMACR gene (604489) on chromosome 5p13; CBAS5 (616278), caused by mutation in the ABCD3 gene (170995) on chromosome 1p21; and CBAS6 (617308), caused by mutation in the ACOX2 gene (601641) on chromosome 3p14.
See also progressive familial intrahepatic cholestasis (PFIC1; 211600), which has a similar phenotype.|OMIM|N|
C1843139|A very rare genetic disorder with clinical characteristics of elevated serum bile acid concentrations, itching and fat malabsorption reported in patients of Old Order Amish descent. Can be caused by mutation in the TJP2 gene on chromosome 9q21, the BAAT gene on chromosome 9q31, or the EPHX1 gene on chromosome 1q42.|SNOMEDCT_US|N|
C1843140|Benign familial neonatal-infantile seizures is an autosomal dominant disorder in which afebrile seizures occur in clusters during the first year of life, without neurologic sequelae (Shevell et al., 1986).
For a general phenotypic description and a discussion of genetic heterogeneity of benign familial infantile seizures, see BFIS1 (601764).|OMIM|N|
C1843146|Lack of observable abnormal electroencephalographic (EEG) patterns in an individual with a history of seizures. About half of individuals with epilepsy show interictal epileptiform discharges upon the first investigation. The yield can be increased by repeated studies, sleep studies, or by ambulatory EEG recordings over 24 hours. Normal interictal EEG is a sign that can be useful in the differential diagnosis.|HPO|N|
C1843153|For a phenotypic description and a discussion of genetic heterogeneity of axonal CMT, see CMT2A1 (118210).|OMIM|N|
C1843156|A progressive form of sensorineural hearing impairment.|HPO|N|
C1843164|A form of Charcot-Marie-Tooth disease type 1, with a variable clinical presentation that can range from severe impairment with onset in childhood to mild impairment appearing during adulthood. The disease has characteristics of progressive peripheral motor and sensory neuropathy with distal paresis in the lower limbs that varies from mild weakness to complete paralysis of the distal muscle groups, absent tendon reflexes and reduced nerve conduction. Caused by mutations in the NEFL gene (8p21.2).|SNOMEDCT_US|N|
C1843168|The presence of excessive redundant myelin in the peripheral nerve sheath.|HPO|N|
C1843169|Groups of small caliber axons in peripheral nerve biospies indicative of axonal regeneration.|HPO|N|
C1843173|An axonal peripheral sensorimotor polyneuropathy associated with pyramidal involvement. So far, it has been described in 13 members of a large Tunisian family. Onset occurred during the first decade of life with progressive distal atrophy involving both the upper and lower limbs, associated with a mild pyramidal syndrome (brisk patellar and upper limb reflexes, absent ankle reflexes and unattainable plantar reflexes). Transmitted in an autosomal recessive manner and the disease-causing locus has been mapped to 8q13-21.1.|SNOMEDCT_US|N|
C1843180|Porokeratosis is a rare skin disorder characterized by one or more annular plaques with a surrounding raised horny border that spreads centrifugally. Variants of porokeratosis have been described that differ in morphologic shapes, distribution, and clinical course (Schamroth et al., 1997). However, as noted by Sybert (2010), several families with expression of more than one variant of porokeratosis among members as well as individuals expressing more than one variant have been reported, suggesting that the distinctions among these variants may be artificial.
Disseminated superficial actinic porokeratosis (DSAP) is the most common subtype of porokeratosis. It is characterized by multiple small, annular, anhidrotic, keratotic lesions that are located predominantly on sun-exposed areas of the skin, such as the face, neck, and distal limbs. The lesions typically begin to develop in adolescence and reach near-complete penetrance by the third or fourth decade of life (summary by Wu et al., 2004 and Zhang et al., 2012).
For a discussion of genetic heterogeneity of porokeratosis, see 175800.|OMIM|N|
C1843181|A Noonan-related syndrome with characteristics of facial anomalies suggestive of Noonan syndrome, a distinctive hair anomaly described as loose anagen hair syndrome, frequent congenital heart defects, distinctive skin features with darkly pigmented skin, keratosis pilaris, eczema or occasional neonatal ichthyosis and short stature, often associated with a growth hormone deficiency and psychomotor delay. There is evidence that this syndrome is caused by heterozygous mutation in the SHOC2 gene on chromosome 10q25.|SNOMEDCT_US|N|
C1843225|A form of axonal Charcot-Marie-Tooth disease a peripheral sensorimotor neuropathy. Onset is in the first to sixth decade with a gait anomaly and a leg weakness that reaches the arms secondarily. Tendon reflexes are reduced or absent and after years all patients have a pes cavus. Other signs may be present including hearing loss and postural tremor.|SNOMEDCT_US|N|
C1843232|An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 5q31.1-q32.|MONDO|N|
C1843244|In most people with childhood absence epilepsy, the absence seizures disappear in adolescence. However, some affected individuals continue to have absence seizures into adulthood, or they may develop generalized tonic-clonic seizures, which cause muscle rigidity, convulsions, and loss of consciousness, or myoclonic seizures, which are characterized by rapid, uncontrolled muscle jerks.\n\nSome affected individuals have febrile seizures before they develop childhood absence epilepsy. Febrile seizures are involuntary muscle contractions (convulsions) brought on by a high body temperature (fever).\n\nChildhood absence epilepsy is a condition characterized by recurrent seizures (epilepsy). This condition begins in childhood, usually between ages 3 and 8. Affected children have absence seizures (also known as petit mal seizures), which are brief episodes of impaired consciousness that look like staring spells. During seizures, children are not aware of and do not respond to people or activities around them. The seizures usually last several seconds and they occur often, up to 200 times each day.|MedlinePlus Genetics|N|
C1843247|For a phenotypic description and a discussion of genetic heterogeneity of autosomal dominant Charcot-Marie-Tooth disease type 1, see CMT1B (118200).|OMIM|N|
C1843256|Immunodeficiency-67 (IMD67) is an autosomal recessive primary immunodeficiency characterized by recurrent severe systemic and invasive bacterial infections beginning in infancy or early childhood. The most common organisms implicated are Streptococcus pneumoniae and Staphylococcus aureus; Pseudomonas and atypical Mycobacteria may also be observed. IMD67 is life-threatening in infancy and early childhood. The first invasive infection typically occurs before 2 years of age, with meningitis representing up to 41% of the bacterial infections. The mortality rate in early childhood is high, with most deaths occurring before 8 years of age. Affected individuals have an impaired inflammatory response to infection, including lack of fever and neutropenia, although erythrocyte sedimentation rate (ESR) and C-reactive protein may be elevated. General immunologic workup tends to be normal, with normal levels of B cells, T cells, and NK cells. However, more detailed studies indicate impaired cytokine response to lipopolysaccharide (LPS) and IL1B (147720) stimulation; response to TNFA (191160) is usually normal. Patients have good antibody responses to most vaccinations, with the notable exception of pneumococcal vaccination. Viral, fungal, and parasitic infections are not generally observed. Early detection is critical in early childhood because prophylactic treatment with IVIg or certain antibiotics is effective; the disorder tends to improve naturally around adolescence. At the molecular level, the disorder results from impaired function of selective Toll receptor (see TLR4, 603030)/IL1R (see IL1R1, 147810) signaling pathways that ultimately activate NFKB (164011) to produce cytokines (summary by Ku et al., 2007; Picard et al., 2010; Grazioli et al., 2016).
See also IMD68 (612260), caused by mutation in the MYD88 gene (602170), which shows a similar phenotype to IMD67. As the MYD88 and IRAK4 genes interact in the same intracellular signaling pathway, the clinical and cellular features are almost indistinguishable (summary by Picard et al., 2010).|OMIM|N|
C1843264|DYT13 type primary dystonia has characteristics of focal or segmental dystonia with cranial, cervical, or upper limb involvement. It has been reported in individuals from three generations of one large Italian family. Age of onset varied between 5 years and adulthood. The clinical manifestations were generally mild and slowly progressive. The causative gene locus has been identified on chromosome 1p36.13-1p36.32. Transmitted in an autosomal dominant manner.|SNOMEDCT_US|N|
C1843273|A rare renal tubular disease characterized by early-onset tubulointerstitial nephritis associated with anterior uveitis.|ORDO|N|
C1843274|Acute inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules.|HPO|N|
C1843276|Acute renal failure with resolution of manifestations.|HPO|N|
C1843285|An extremely rare ectodermal dysplasia syndrome with characteristics of hypotrichosis universalis with mild to severe scarring alopecia, acro-osteolysis, onychogryphosis, thin and tapered fingertips, periodontitis and caries leading to premature teeth loss, linear or reticular palmoplantar keratoderma and erythematous, scaling, psoriasis-like skin lesions on arms and legs. Lingua plicata and ventricular tachycardia have also been observed.|SNOMEDCT_US|N|
C1843291|An extremely rare ectodermal dysplasia syndrome with characteristics of premature loss of curly, brittle, dry hair, premature loss of teeth due to caries, nail dystrophy with thickening of the finger and toe-nails, acral keratoderma and hypohidrosis. Additionally, sparse eyebrows and eyelashes, receding frontal hairline and flattened malar region are associated. The severity of features appears to increase with age.|SNOMEDCT_US|N|
C1843292|Woolly hair-skin fragility syndrome (WHSF) is characterized by woolly hair texture and slow hair growth, as well as superficial skin fragility which is present at birth or appears in the neonatal period and then resolves or persists only as minor palmoplantar skin peeling. The disorder appears to predominantly affect hair, and to a lesser extent skin (Jackson et al., 2023).|OMIM|N|
C1843300|Decreased density/number of eyelashes.|HPO|N|
C1843315|The spectrum of DCTN1-related neurodegeneration includes Perry syndrome, distal hereditary motor neuronopathy type 7B (dHMN7B), frontotemporal dementia (FTD), motor neuron disease / amyotrophic lateral sclerosis (ALS), and progressive supranuclear palsy. Some individuals present with overlapping phenotypes (e.g., FTD-ALS, Perry syndrome-dHMN7B). Perry syndrome (the most common of the phenotypes associated with DCTN1) is characterized by parkinsonism, neuropsychiatric symptoms, hypoventilation, and weight loss. The mean age of onset in those with Perry syndrome is 49 years (range: 35-70 years), and the mean disease duration is five years (range: 2-14 years). In most affected persons, the reported cause/circumstance of death relates to sudden death/hypoventilation or suicide.|GeneReviews|N|
C1843330|The osteopetroses are a heterogeneous group of genetic disorders characterized by increased bone density due to impaired bone resorption by osteoclasts. Autosomal dominant osteopetrosis-1 (OPTA1) is characterized by generalized osteosclerosis most pronounced in the cranial vault. Patients are often asymptomatic, but some suffer from pain and hearing loss. It appears to be the only type of osteopetrosis not associated with an increased fracture rate (summary by Van Hul et al., 2002).
Genetic Heterogeneity of Autosomal Dominant Osteopetrosis
Autosomal dominant osteopetrosis-2 (OPTA2; 166600) is caused by mutation in the CLCN7 gene (602727) on chromosome 16p13. Autosomal dominant osteopetrosis-3 (OPTA3; 618107) is caused by mutation in the PLEKHM1 gene (611466) on chromosome 17q21.|OMIM|N|
C1843331|An abnormal increase of bone mineral density with generalized involvement of the skeleton.|HPO|N|
C1843355|A very rare complex ichthyosis syndrome with characteristics of scalp hypotrichosis, scarring alopecia, ichthyosis and sclerosing cholangitis. The ichthyosis presents with diffuse white scales sparing the skin folds and is accompanied by scalp hypotrichosis, cicatricial alopecia, and sparse eyelashes/eyebrows. Additional manifestations may include oligodontia, hypodontia and enamel dysplasia. All patients present with neonatal sclerosing cholangitis with jaundice and pruritus, hepatomegaly and biochemical cholestasis. Caused by a mutation in the CLDN1 gene on chromosome 3q28 coding for the tight junction protein claudin-1. Autosomal recessive pattern of inheritance.|SNOMEDCT_US|N|
C1843359|Formation of an anuclear keratin layer|HPO|N|
C1843366|Niemann-Pick disease type C (NPC) is a slowly progressive lysosomal disorder whose principal manifestations are age dependent. The manifestations in the perinatal period and infancy are predominantly visceral, with hepatosplenomegaly, jaundice, and (in some instances) pulmonary infiltrates. From late infancy onward, the presentation is dominated by neurologic manifestations. The youngest children may present with hypotonia and developmental delay, with the subsequent emergence of ataxia, dysarthria, dysphagia, and, in some individuals, epileptic seizures, dystonia, and gelastic cataplexy. Although cognitive impairment may be subtle at first, it eventually becomes apparent that affected individuals have a progressive dementia. Older teenagers and young adults may present predominantly with apparent early-onset dementia or psychiatric manifestations; however, careful examination usually identifies typical neurologic signs.|GeneReviews|N|
C1843369|A supranuclear gaze palsy is an inability to look in a vertical direction as a result of cerebral impairment. There is a loss of the voluntary aspect of eye movements, but, as the brainstem is still intact, all the reflex conjugate eye movements are normal.|HPO|N|
C1843371|A reduction in the rate of cholesterol esterification.|HPO|N|
C1843386|Decreased ability to react to a delayed hypersensitivity skin test.|HPO|N|
C1843392|Death in during childhood, defined here as between the ages of 2 and 10 years.|HPO|N|
C1843422|Reduced activity of the enzyme acid sphingomyelinase activity in the blood circulation.|HPO|N|
C1843463|A rare clinical variant of epidermolytic ichthyosis, with manifestations of blistering phenotype at birth and the development from early infancy of annular polycyclic erythematous scales on the trunk and extremities. It has been reported in less than 10 families. The disease is caused by mutations in the KRT1 (12q11-q13) and KRT10 (17q21-q23) genes, encoding keratins 1 and 10 respectively. These mutations impair keratin filament formation and weaken the structural stability of the keratinocyte cytoskeleton. Transmission is autosomal dominant.|SNOMEDCT_US|N|
C1843477|Epidermolysis bullosa simplex superficialis (EBSS) is a suprabasal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized or acral superficial erosions in the absence of blisters.|MONDO|N|
C1843478|Lethal congenital contracture syndrome-2 (LCCS2) is an autosomal recessive disorder characterized by severe multiple congenital contractures with muscle wasting and atrophy. Micrognathia and other craniofacial anomalies, including cleft palate, as well as cardiac defects and enlarged urinary bladder at birth have also been reported. Hydrops fetalis and multiple pterygia are absent. Most patients have died in the neonatal period, although 2 survived to early adolescence (Landau et al., 2003).
For a general phenotypic description and a discussion of genetic heterogeneity of LCCS, see LCCS1 (253310).|OMIM|N|
C1843496|A developmental anomaly characterized by abnormal smallness of both eyes.|HPO|N|
C1843504|Pontocerebellar hypoplasia (PCH) refers to a group of severe neurodegenerative disorders affecting growth and function of the brainstem and cerebellum, resulting in little or no development. Different types were classified based on the clinical picture and the spectrum of pathologic changes. PCH type 1 is characterized by central and peripheral motor dysfunction associated with anterior horn cell degeneration resembling infantile spinal muscular atrophy (SMA; see SMA1, 253300); death usually occurs early.
Genetic Heterogeneity of Pontocerebellar Hypoplasia
Also see PCH1B (614678), caused by mutation in the EXOSC3 gene (606489); PCH1C (616081), caused by mutation in the EXOSC8 gene (606019); PCH1D (618065), caused by mutation in the EXOSC9 gene (606180); PCH1E (619303), caused by mutation in the SLC25A46 gene (610826); PCH1F (619304), caused by mutation in the EXOSC1 gene (606493); PCH2A (277470), caused by mutation in the TSEN54 gene (608755); PCH2B (612389), caused by mutation in the TSEN2 gene (608753); PCH2C (612390), caused by mutation in the TSEN34 gene (608754); PCH2D (613811), caused by mutation in the SEPSECS gene (613009); PCH3 (608027), caused by mutation in the PCLO gene (604918); PCH4 (225753), caused by mutation in the TSEN54 gene; PCH5 (610204), caused by mutation in the TSEN54 gene; PCH6 (611523), caused by mutation in the RARS2 gene (611524); PCH7 (614969), caused by mutation in the TOE1 gene (613931); PCH8 (614961), caused by mutation in the CHMP1A gene (164010); PCH9 (615809), caused by mutation in the AMPD2 gene (102771); PCH10 (615803), caused by mutation in the CLP1 gene (608757); PCH11 (617695), caused by mutation in the TBC1D23 gene (617687); PCH12 (618266), caused by mutation in the COASY gene (609855); PCH13 (618606), caused by mutation in the VPS51 gene (615738); PCH14 (619301), caused by mutation in the PPIL1 gene (601301); PCH15 (619302), caused by mutation in the CDC40 gene (605585); PCH16 (619527), caused by mutation in the MINPP1 gene (605391); and PCH17 (619909), caused by mutation in the PRDM13 gene (616741) on chromosome 6q16.|OMIM|N|
C1843507|Underdevelopment of the ventral portion of the pons.|HPO|N|
C1843569|A very rare pure form of spastic paraplegia with characteristics of onset in infancy of lower limb spasticity associated with gait disturbances, scissor gait, tiptoe walking, clonus and increased deep tendon reflexes. Mild upper limb involvement may occasionally also be associated.|SNOMEDCT_US|N|
C1843632|Leprosy, also called Hansen disease, is a disorder known since ancient times. It is caused by bacteria called Mycobacterium leprae and is contagious, which means that it can be passed from person to person. It is usually contracted by breathing airborne droplets from affected individuals' coughs and sneezes, or by coming into contact with their nasal fluids. However, it is not highly transmissible, and approximately 95 percent of individuals who are exposed to Mycobacterium leprae never develop leprosy. The infection can be contracted at any age, and signs and symptoms can take anywhere from several months to 20 years to appear.\n\nLeprosy affects the skin and the peripheral nerves, which connect the brain and spinal cord to muscles and to sensory cells that detect sensations such as touch, pain, and heat. Most affected individuals have areas of skin damage (cutaneous lesions) and problems with nerve function (peripheral neuropathy); however, the severity and extent of the problems vary widely. Leprosy occurs on a spectrum, in which the most severe form is called multibacillary or lepromatous, and the least severe form is called paucibacillary or tuberculoid. Patterns of signs and symptoms intermediate between these forms are sometimes called borderline forms.\n\nMultibacillary leprosy usually involves a large number of cutaneous lesions, including both surface damage and lumps under the skin (nodules). The moist tissues that line body openings such as the eyelids and the inside of the nose and mouth (mucous membranes) can also be affected, which can lead to vision loss, destruction of nasal tissue, or impaired speech. Some affected individuals have damage to internal organs and tissues. The nerve damage that occurs in multibacillary leprosy often results in a lack of sensation in the hands and feet. Repeated injuries that go unnoticed and untreated because of this lack of sensation can lead to reabsorption of affected fingers or toes by the body, resulting in the shortening or loss of these digits.\n\nPaucibacillary leprosy typically involves a small number of surface lesions on the skin. There is generally loss of sensation in these areas, but the other signs and symptoms that occur in multibacillary leprosy are less likely to develop in this form of the disorder.\n\nLeprosy has long been stigmatized because of its infectious nature and the disfigurement it can cause. This stigma can cause social and emotional problems for affected individuals. However, modern treatments can prevent leprosy from getting worse and spreading to other people. While the infection is curable, nerve and tissue damage that occurred before treatment is generally permanent.\n\nIn any form of leprosy, episodes called reactions can occur, and can lead to further nerve damage. These episodes can include reversal reactions, which involve pain and swelling of the skin lesions and the nerves in the hands and feet. People with the more severe forms of leprosy can develop a type of reaction called erythema nodosum leprosum (ENL). These episodes involve fever and painful skin nodules. In addition, painful, swollen nerves can occur. ENL can also lead to inflammation of the joints, eyes, and the testicles in men.|MedlinePlus Genetics|N|
C1843637|Weakness of the muscles involved in neck flexion (sternocleidomastoid, longus capitus, longus colli, and scalenus anterior).|HPO|N|
C1843643|An abnormal reduction in alveolar ventilation occuring during sleep. This is characterized by a rise in arterial carbon dioxide.|HPO|N|
C1843663|Abnormal function of a sphincter of the urinary bladder.|HPO|N|
C1843677|An abnormal enlargement of the sella turcica.|HPO|N|
C1843687|Atrial fibrillation (AF) is the most common sustained cardiac rhythm disturbance, affecting more than 2 million Americans, with an overall prevalence of 0.89%. The prevalence increases rapidly with age, to 2.3% between the ages of 40 and 60 years, and to 5.9% over the age of 65. The most dreaded complication is thromboembolic stroke (Brugada et al., 1997).
Genetic Heterogeneity of Familial Atrial Fibrillation
ATFB1 shows linkage to chromosome 10q22-q24. ATFB2 (608988) maps to chromosome 6q. ATFB3 (607554) is caused by mutation in the KCNQ1 gene (607542) on chromosome 11. ATFB4 (611493) is caused by mutation in the KCNE2 gene (603796) on chromosome 21. Variants in a region of chromosome 4q25 are associated with ATFB5 (611494). ATFB6 (612201) is caused by mutation in the NPPA gene (108780) on chromosome 1p36. ATFB7 (612240) is caused by mutation in the KCNA5 gene (176267) on chromosome 12p13. ATFB8 (613055) maps to chromosome 16q22. ATFB9 (613980) is caused by mutation in the KCNJ2 gene (600681) on chromosome 17q24.3. ATFB10 (614022) is caused by mutation in the SCN5A gene (600163) on chromosome 3p21. ATFB11 (614049) is caused by mutation in the GJA5 (121013) gene on chromosome 1q21.1. ATFB12 (614050) is caused by mutation in the ABCC9 gene (601439) on chromosome 12p12.1. ATFB13 (615377) is caused by mutation in the SCN1B gene (600235) on chromosome 19q13. ATFB14 (615378) is caused by mutation in the SCN2B gene (601327) on chromosome 11q23. ATFB15 (615770) is caused by mutation in the NUP155 gene (606694) on chromosome 5p13. ATFB16 (see 613120) is caused by mutation in the SCN3B gene (608214) on chromosome 11q24. ATFB17 (see 611819) is caused by mutation in the SCN4B gene (608256) on chromosome 11q23. ATFB18 (617280) is caused by mutation in the MYL4 gene (160770) on chromosome 17q21.
Olesen et al. (2014) analyzed 192 Danish Caucasian patients with onset of lone atrial fibrillation before the age of 40 years for the presence of rare variants in 14 AF-associated genes and found that 29 (7.6%) alleles harbored a very rare variant (minor allele frequency less than 1%), a significantly higher percentage than that found in 6,503 individuals in the NHLBI Exome Variant Server database (4.1%; p = 0.0012). Twenty-four of the 29 rare variants found in the lone AF patient cohort had previously been studied, with 23 (96%) showing abnormal ion channel function by patch-clamp analysis. Olesen et al. (2014) suggested that rare variants in AF susceptibility genes may play a role in the pathophysiology of AF.|OMIM|N|
C1843691|Multiminicore disease (MmD) is a clinically heterogeneous condition in which several subgroups can be distinguished (see 255320 and 602771). General features include neonatal hypotonia, delayed motor development, and generalized muscle weakness and amyotrophy, which may progress slowly or remain stable. Muscle biopsy shows multiple, poorly circumscribed, short areas of sarcomere disorganization and mitochondria depletion (areas termed 'minicores') in most muscle fibers. Typically, no dystrophic signs, such as muscle fiber necrosis or regeneration or significant endomysial fibrosis, are present in multiminicore disease (Ferreiro and Fardeau, 2002).|OMIM|N|
C1843697|Reduced strength of the axial musculature (i.e., of the muscles of the head and neck, spine, and ribs).|HPO|N|
C1843700|An abnormally high degree of muscle fiber size variation. This phenotypic feature can be observed upon muscle biopsy.|HPO|N|
C1843706|Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome is a rare, genetic, primary bone dysplasia disorder characterized by short stature, hyperlordosis, protuberant abdomen, mild bilateral genu varum, bowed and shortened forearms with limited elbow extension, and discrete facial dysmorphism (prominent forehead, hypertelorism, flat nasal bridge). Radiographically, moderate platyspondyly, including posterior wedging with anterior bullet-shaped vertebral bodies, with minimal metaphyseal abnormalities are observed.|ORDO|N|
C1843761|This form of isolated toenail dystrophy has been found to segregate as an autosomal dominant trait in families in which another member has the autosomal recessive skin disorder dystrophic epidermolysis bullosa (226600) or transient bullous dermolysis of the newborn (131705), the features of which include dystrophic nails. The nail changes in isolated toenail dystrophy are most severe in the great toes and consist of the nail plate being buried in the nail bed with a deformed and narrow free edge (summary by Sato-Matsumura et al., 2002). This form of  toenail dystrophy is referred to here as nonsyndromic congenital nail disorder-8 (NDNC8).
For a list of other nonsyndromic congenital nail disorders and a discussion of genetic heterogeneity, see NDNC1 (161050).|OMIM|N|
C1843771|For a phenotypic description and discussion of genetic heterogeneity of migraine headaches, see MGR1 (157300).|OMIM|N|
C1843772|A susceptibility or predisposition to psoriatic arthritis, in which the cause of the disease is a mutation in the LTA gene. Psoriatic arthritis affects more than 10% of patients with psoriasis and, in most cases, there is an association between the severity of the arthritis and the skin involvement.|MONDO|N|
C1843773|An inherited susceptibility or predisposition to developing migraines without aura.|MONDO|N|
C1843786|A myoclonic dystonia characterized by autosomal dominant inheritance that has material basis in variation in the chromosome region 18p11.|MONDO|N|
C1843792|The spectrum of GRN frontotemporal dementia (GRN-FTD) includes the behavioral variant (bvFTD), primary progressive aphasia (PPA; further subcategorized as progressive nonfluent aphasia [PNFA] and semantic dementia [SD]), and movement disorders with extrapyramidal features such as parkinsonism and corticobasal syndrome (CBS). A broad range of clinical features both within and between families is observed. The age of onset ranges from 35 to 87 years. Behavioral disturbances are the most common early feature, followed by progressive aphasia. Impairment in executive function manifests as loss of judgment and insight. In early stages, PPA often manifests as deficits in naming, word finding, or word comprehension. In late stages, affected individuals often become mute and lose their ability to communicate. Early findings of parkinsonism include rigidity, bradykinesia or akinesia (slowing or absence of movements), limb dystonia, apraxia (loss of ability to carry out learned purposeful movements), and disequilibrium. Late motor findings may include myoclonus, dysarthria, and dysphagia. Most affected individuals eventually lose the ability to walk. Disease duration is three to 12 years.|GeneReviews|N|
C1843793|Progressive loss of previously present language abilities.|HPO|N|
C1843807|Biotin-thiamine-responsive basal ganglia disease (BTBGD) may present in childhood, early infancy, or adulthood. The classic presentation of BTBGD occurs in childhood (age 3-10 years) and is characterized by recurrent subacute encephalopathy manifest as confusion, seizures, ataxia, dystonia, supranuclear facial palsy, external ophthalmoplegia, and/or dysphagia which, if left untreated, can eventually lead to coma and even death. Dystonia and cogwheel rigidity are nearly always present; hyperreflexia, ankle clonus, and Babinski responses are common. Hemiparesis or quadriparesis may be seen. Episodes are often triggered by febrile illness or mild trauma or stress. Simple partial or generalized seizures are easily controlled with anti-seizure medication. An early-infantile Leigh-like syndrome / atypical infantile spasms presentation occurs in the first three months of life with poor feeding, vomiting, acute encephalopathy, and severe lactic acidosis. An adult-onset Wernicke-like encephalopathy presentation is characterized by acute onset of status epilepticus, ataxia, nystagmus, diplopia, and ophthalmoplegia in the second decade of life. Prompt administration of biotin and thiamine early in the disease course results in partial or complete improvement within days in the childhood and adult presentations, but most with the infantile presentation have had poor outcome even after supplementation with biotin and thiamine.|GeneReviews|N|
C1843808|Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the CSRP3 gene.|MONDO|N|
C1843815|Newfoundland rod-cone dystrophy (NFRCD) is a severe retinal dystrophy in which night blindness is present from infancy. Progressive loss of peripheral, central, and color vision begins in childhood and results in severe visual loss by the second to fourth decade of life (Eichers et al., 2002).|OMIM|N|
C1843816|Caused by mutation in the gene encoding retinaldehyde-binding protein-1. A high frequency of a distinctive form of retinal dystrophy was found to occur in northern Sweden. Typical manifestations are night blindness from early childhood and in young adults retinitis punctata albescens was observed followed by macular degeneration.|SNOMEDCT_US|N|
C1843832|Deficiency of all vitamin K-dependent clotting factors leads to a bleeding tendency that is usually reversed by oral administration of vitamin K. Familial multiple coagulation factor deficiency is rare. Clinical symptoms of the disease include episodes of intracranial hemorrhage in the first weeks of life, sometimes leading to a fatal outcome (Fregin et al., 2002).
For a general phenotypic description and a discussion of genetic heterogeneity of combined deficiency of vitamin K-dependent clotting factors, see VKCFD1 (277450).|OMIM|N|
C1843851|POLG-related disorders comprise a continuum of overlapping phenotypes that were clinically defined long before their molecular basis was known. Most affected individuals have some, but not all, of the features of a given phenotype; nonetheless, the following nomenclature can assist the clinician in diagnosis and management. Onset of the POLG-related disorders ranges from infancy to late adulthood. Alpers-Huttenlocher syndrome (AHS), one of the most severe phenotypes, is characterized by childhood-onset progressive and ultimately severe encephalopathy with intractable epilepsy and hepatic failure. Childhood myocerebrohepatopathy spectrum (MCHS) presents between the first few months of life and about age three years with developmental delay or dementia, lactic acidosis, and a myopathy with failure to thrive. Other findings can include liver failure, renal tubular acidosis, pancreatitis, cyclic vomiting, and hearing loss. Myoclonic epilepsy myopathy sensory ataxia (MEMSA) now describes the spectrum of disorders with epilepsy, myopathy, and ataxia without ophthalmoplegia. MEMSA now includes the disorders previously described as spinocerebellar ataxia with epilepsy (SCAE). The ataxia neuropathy spectrum (ANS) includes the phenotypes previously referred to as mitochondrial recessive ataxia syndrome (MIRAS) and sensory ataxia neuropathy dysarthria and ophthalmoplegia (SANDO). About 90% of persons in the ANS have ataxia and neuropathy as core features. Approximately two thirds develop seizures and almost one half develop ophthalmoplegia; clinical myopathy is rare. Autosomal recessive progressive external ophthalmoplegia (arPEO) is characterized by progressive weakness of the extraocular eye muscles resulting in ptosis and ophthalmoparesis (or paresis of the extraocular muscles) without associated systemic involvement; however, caution is advised because many individuals with apparently isolated arPEO at the onset develop other manifestations of POLG-related disorders over years or decades. Of note, in the ANS spectrum the neuropathy commonly precedes the onset of PEO by years to decades. Autosomal dominant progressive external ophthalmoplegia (adPEO) typically includes a generalized myopathy and often variable degrees of sensorineural hearing loss, axonal neuropathy, ataxia, depression, parkinsonism, hypogonadism, and cataracts (in what has been called "chronic progressive external ophthalmoplegia plus," or "CPEO+").|GeneReviews|N|
C1843852|Myoclonic epilepsy myopathy sensory ataxia, commonly called MEMSA, is part of a group of conditions called the POLG-related disorders. The conditions in this group feature a range of similar signs and symptoms involving muscle-, nerve-, and brain-related functions. The signs and symptoms of MEMSA typically appear during young adulthood. This condition had previously been known as spinocerebellar ataxia with epilepsy (SCAE).\n\nThe first symptom of MEMSA is usually cerebellar ataxia, which refers to problems with coordination and balance due to defects in the part of the brain that is involved in coordinating movement (cerebellum). Recurrent seizures (epilepsy) usually develop later, often in combination with uncontrollable muscle jerks (myoclonus). The seizures usually begin in the right arm and spread to become generalized throughout the body. Additionally, affected individuals may have severe brain dysfunction (encephalopathy) or muscle weakness (myopathy). The myopathy can affect muscles close to the center of the body (proximal), such as the muscles of the hips, thighs, upper arms, or neck, or muscles farther away from the center of the body (distal), such as the muscles of the hands or feet. The myopathy may be especially noticeable during exercise (exercise intolerance).|MedlinePlus Genetics|N|
C1843865|An abnormality of the functioning of the vestibular apparatus.|HPO|N|
C1843884|Disease with characteristics of sensory neuropathy and cerebellar ataxia. Prevalence is unknown. Only 26 cases in a 5-generation American family of Irish ancestry have been reported to date. Onset is in the second and third decades of life with symptomatic onset ranging from 13 to 27 years. Patients initially present with axonal sensory neuropathy, while cerebellar ataxia and motor neuron dysfunction develop later. Linked to chromosome 7q22-q23 but the responsible gene mutation has not yet been identified.|SNOMEDCT_US|N|
C1843885|A type of gait ataxia displaying progression of clinical severity.|HPO|N|
C1843891|Spinocerebellar ataxia-21 (SCA21) is an autosomal dominant neurologic disorder characterized by onset in the first decades of life of slowly progressive cerebellar ataxia, which is associated with cognitive impairment in most patients (summary by Delplanque et al., 2014).
For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (164400).|OMIM|N|
C1843893|Square wave jerks are saccadic eye movements which, when recorded with open eyes are considered to be a pathological sign, caused by fixation instability, and pointing to a central neurological lesion.|HPO|N|
C1843895|Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the CCDC50 gene.|MONDO|N|
C1843896|Arrhythmogenic right ventricular cardiomyopathy (ARVC) – previously referred to as arrhythmogenic right ventricular dysplasia (ARVD) – is characterized by progressive fibrofatty replacement of the myocardium that predisposes to ventricular tachycardia and sudden death in young individuals and athletes. It primarily affects the right ventricle, and it may also involve the left ventricle. The presentation of disease is highly variable even within families, and some affected individuals may not meet established clinical criteria. The mean age at diagnosis is 31 years (±13; range: 4-64 years).|GeneReviews|N|
C1843920|Primary coenzyme Q10 (CoQ10) deficiency is usually associated with multisystem involvement, including neurologic manifestations such as fatal neonatal encephalopathy with hypotonia; a late-onset slowly progressive multiple-system atrophy-like phenotype (neurodegeneration with autonomic failure and various combinations of parkinsonism and cerebellar ataxia, and pyramidal dysfunction); and dystonia, spasticity, seizures, and intellectual disability. Steroid-resistant nephrotic syndrome (SRNS), the hallmark renal manifestation, is often the initial manifestation either as isolated renal involvement that progresses to end-stage renal disease (ESRD), or associated with encephalopathy (seizures, stroke-like episodes, severe neurologic impairment) resulting in early death. Hypertrophic cardiomyopathy (HCM), retinopathy or optic atrophy, and sensorineural hearing loss can also be seen.|GeneReviews|N|
C1843921|A tendency to fall or the inability to keep oneself from falling; imbalance. The retropulsion test is widely regarded as the gold standard to evaluate postural instability, Use of the retropulsion test includes a rapid balance perturbation in the backward direction, and the number of balance correcting steps (or total absence thereof) is used to rate the degree of postural instability. Healthy subjects correct such perturbations with either one or two large steps, or without taking any steps, hinging rapidly at the hips while swinging the arms forward as a counterweight. In patients with balance impairment, balance correcting steps are often too small, forcing patients to take more than two steps. Taking three or more steps is generally considered to be abnormal, and taking more than five steps is regarded as being clearly abnormal. Markedly affected patients continue to step backward without ever regaining their balance and must be caught by the examiner (this would be called true retropulsion). Even more severely affected patients fail to correct entirely, and fall backward like a pushed toy soldier, without taking any corrective steps.|HPO|N|
C1843942|Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the CRBN gene.|MONDO|N|
C1843994|This syndrome is characterized by hypergonadotropic hypogonadism, intellectual deficit, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus.|ORDO|N|
C1843995|Inflammation of the liver due to infection with enterovirus.|HPO|N|
C1844005|A rare developmental defect during embryogenesis malformation syndrome characterized by congenital, non-communicating hydrocephalus, cerebellar agenesis and absence of the Luschka and Magendie foramina. Patients present with hypotonia, areflexia or hyporeflexia, seizures and/or cyanosis shortly after birth and is fatal in the neonatal period. There have been no further descriptions in the literature since 1973.|ORDO|N|
C1844016|X-linked microhydranencephaly is a male-lethal disorder characterized by intrauterine growth retardation, extreme microcephaly, and lack of fetal movement on prenatal ultrasound, with death in utero or stillbirth. Autopsy shows limb contractures with talipes equinovarus and hypoplastic lungs and kidneys. Brain findings are consistent with severe holoprosencephaly or near-anencephaly. Obligate carrier females may show a milder phenotype of short stature and microcephaly (Hockey et al., 1988; Carroll et al., 2017).
An autosomal recessive form of microhydranencephaly (MHAC; 605013) is caused by mutation in the NDE1 gene (609449).|OMIM|N|
C1844017|Hirschsprung disease-type D brachydactyly syndrome is characterized by Hirschsprung disease and absence or hypoplasia of the nails and distal phalanges of the thumbs and great toes (type D brachydactyly). It has been described in four males from one family (two brothers and two maternal uncles). Transmission appears to be X-linked recessive but autosomal dominant inheritance with incomplete penetrance in females can not be ruled out.|ORDO|N|
C1844020|Heterotaxy
Heterotaxy ('heter' meaning 'other' and 'taxy' meaning 'arrangement'), or situs ambiguus, is a developmental condition characterized by randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another (Srivastava, 1997). Heterotaxy is a clinically and genetically heterogeneous disorder.
Multiple Types of Congenital Heart Defects
Congenital heart defects (CHTD) are among the most common congenital defects, occurring with an incidence of 8/1,000 live births. The etiology of CHTD is complex, with contributions from environmental exposure, chromosomal abnormalities, and gene defects. Some patients with CHTD also have cardiac arrhythmias, which may be due to the anatomic defect itself or to surgical interventions (summary by van de Meerakker et al., 2011).
Reviews
Obler et al. (2008) reviewed published cases of double-outlet right ventricle and discussed etiology and associations.
Genetic Heterogeneity of Visceral Heterotaxy
See also HTX2 (605376), caused by mutation in the CFC1 gene (605194) on chromosome 2q21; HTX3 (606325), which maps to chromosome 6q21; HTX4 (613751), caused by mutation in the ACVR2B gene (602730) on chromosome 3p22; HTX5 (270100), caused by mutation in the NODAL gene (601265) on chromosome 10q22; HTX6 (614779), caused by mutation in the CCDC11 gene (614759) on chromosome 18q21; HTX7 (616749), caused by mutation in the MMP21 gene (608416) on chromosome 10q26; HTX8 (617205), caused by mutation in the PKD1L1 gene (609721) on chromosome 7p12; HTX9 (618948), caused by mutation in the MNS1 gene (610766) on chromosome 15q21; HTX10 (619607), caused by mutation in the CFAP52 gene (609804) on chromosome 17p13; HTX11 (619608), caused by mutation in the CFAP45 gene (605152) on chromosome 1q23; and HTX12 (619702), caused by mutation in the CIROP gene (619703) on chromosome 14q11.
Genetic Heterogeneity of Multiple Types of Congenital Heart Defects
An X-linked form of CHTD, CHTD1, is caused by mutation in the ZIC3 gene on chromosome Xq26. CHTD2 (614980) is caused by mutation in the TAB2 gene (605101) on chromosome 6q25. A form of nonsyndromic congenital heart defects associated with cardiac rhythm and conduction disturbances (CHTD3; 614954) has been mapped to chromosome 9q31. CHTD4 (615779) is caused by mutation in the NR2F2 gene (107773) on chromosome 15q26. CHTD5 (617912) is caused by mutation in the GATA5 gene (611496) on chromosome 20q13. CHTD6 (613854) is caused by mutation in the GDF1 gene (602880) on chromosome 19p13. CHTD7 (618780) is caused by mutation in the FLT4 gene (136352) on chromosome 5q35. CHTD8 (619657) is caused by mutation in the SMAD2 gene (601366) on chromosome 18q21. CHTD9 (620294) is caused by mutation in the PLXND1 gene (604282) on chromosome 3q22.|OMIM|N|
C1844025|Diaphragmatic hernia-5 (DIH5) is an X-linked disorder characterized by congenital diaphragmatic hernia (CDH), diaphragmatic agenesis, and abdominal wall defects. The disorder is usually transmitted in an X-linked recessive pattern with males being severely affected; many die in early childhood. Although the diaphragmatic features are variable, posterolateral diaphragmatic defects are common. Additional features include hypertelorism, sometimes with more severe dysmorphic facial features, and some affected males may show genitourinary, cardiac, pulmonary, or neurodevelopmental abnormalities. Most carrier females show hypertelorism, although a few have mild abdominal wall defects. Some of the features of DIH5 overlap with those of the X-linked disorder thoracoabdominal syndrome (THAS; 313850) (Petit et al., 2023).
For a discussion of genetic heterogeneity of congenital diaphragmatic hernia (CDH), see DIH1 (142340).|OMIM|N|
C1844376|Chronic granulomatous disease (CGD) is a primary immunodeficiency disorder of phagocytes (neutrophils, monocytes, macrophages, and eosinophils) resulting from impaired killing of bacteria and fungi. CGD is characterized by severe recurrent bacterial and fungal infections and dysregulated inflammatory responses resulting in granuloma formation and other inflammatory disorders such as colitis. Infections typically involve the lung (pneumonia), lymph nodes (lymphadenitis), liver (abscess), bone (osteomyelitis), and skin (abscesses or cellulitis). Granulomas typically involve the genitourinary system (bladder) and gastrointestinal tract (often the pylorus initially, and later the esophagus, jejunum, ileum, cecum, rectum, and perirectal area). Some males with X-linked CGD have McLeod neuroacanthocytosis syndrome as the result of a contiguous gene deletion. While CGD may present anytime from infancy to late adulthood, the vast majority of affected individuals are diagnosed before age five years. Use of antimicrobial prophylaxis and therapy has greatly improved overall survival.|GeneReviews|N|
C1844383|Increased susceptibility to bacterial infections, as manifested by recurrent episodes of bacterial infection.|HPO|N|
C1844384|Increased susceptibility to fungal infections, as manifested by multiple episodes of fungal infection.|HPO|N|
C1844385|An absence of the phase of elevated metabolic activity, during which oxygen consumption increases, that occurs in neutrophils, monocytes, and macrophages shortly after phagocytosing material. An enhanced uptake of oxygen leads to the production, by an NADH dependent system, of hydrogen peroxide (H2O2), superoxide anions and hydroxyl radicals, which play a part in microbiocidal activity.|HPO|N|
C1844501|Habib et al. (1973) recognized 2 morphologic classes for the glomerular changes seen in patients with mesangiocapillary (membranoproliferative) glomerulonephritis (MPGN). Type I is characterized by double contour appearance of the capillary walls due to mesangial cell interposition, with nonargyrophilic subendothelial deposits which are finely granular on electron microscopy. Type II is characterized by linear dense deposits within the basement membrane and only rare double contours. These 2 types appear to be distinct with no conversion of one type to another on serial biopsy. Strife et al. (1977) described a third variety in which there are not only subendothelial deposits but also numerous subepithelial and intramembranous deposits, associated with replication of the lamina densa and frequently disruption of the whole basement membrane.|OMIM|N|
C1844505|A marked tapering of the lower face to the chin.|HPO|N|
C1844508|An abnormal increase in the size of the foramen magnum.|HPO|N|
C1844512|Anterior mislocalization of the dens of the axis.|HPO|N|
C1844527|Developmental hypoplasia of the clitoris.|HPO|N|
C1844529|Developmental defect resulting in congenital absence of the middle portion of the clavicle.|HPO|N|
C1844530|Underdevelopment of the middle portion of the clavicle.|HPO|N|
C1844537|The presence of a notch in the margin of the ala nasi.|HPO|N|
C1844548|Abnormally short finger associated with developmental hypoplasia.|HPO|N|
C1844554|Absence of a fingernail.|HPO|N|
C1844555|Congenital absence of the toenail.|HPO|N|
C1844560|Fingerprint body myopathy is a congenital benign muscle disorder characterised by congenital hypotonia and weakness and by the presence of numerous fingerprint bodies located at the periphery of the muscle fibers. Prevalence is unknown. Less than 20 patients have been described. Few sporadic cases have been observed, as well as cases of recessive transmission.|ORDO|N|
C1844562|An abnormal distribution of eyebrow hair growth in the medial direction.|HPO|N|
C1844571|Elevated ratio between the upper and the lower segment of the body, where the lower segment is defined as the length between the top of pubic symphysis to floor, and the upper segment is defined as the top of head to top of pubic symphysis.|HPO|N|
C1844573|Increased volume of the earlobe, that is, abnormally prominent ear lobules.|HPO|N|
C1844577|The ability of the finger joints to move beyond their normal range of motion.|HPO|N|
C1844579|Familial exudative vitreoretinopathy (FEVR) is an inherited disorder characterized by the incomplete development of the retinal vasculature. Its clinical appearance varies considerably, even within families, with severely affected patients often registered as blind during infancy, whereas mildly affected patients with few or no visual problems may have such a small area of avascularity in their peripheral retina that it is visible only by fluorescein angiography. It is believed that this peripheral avascularity is the primary anomaly in FEVR and results from defective retinal angiogenesis. The sight-threatening features of the FEVR phenotype are considered secondary to retinal avascularity and develop because of the resulting retinal ischemia; they include the development of hyperpermeable blood vessels, neovascularization, vitreoretinal traction, retinal folds, and retinal detachments (summary by Poulter et al., 2010).
For a discussion of genetic heterogeneity of FEVR, see EVR1 (133780).|OMIM|N|
C1844589|X-linked form of epidermodysplasia verruciformis.|MONDO|N|
C1844592|Subjective impression of increased softness upon palpation of the skin.|HPO|N|
C1844597|Bluish-grey, spongy nodules associated with scars over pressure points and easily traumatized areas like the elbows and knees.|HPO|N|
C1844606|Increased pigmentation of the skin in the region surrounding the orbit of the eye.|HPO|N|
C1844618|Absence or developmental hypoplasia of the eccrine sweat glands.|HPO|N|
C1844632|Leukoplakia is a precancerous dermatosis of mucous membranes analogous Leukoplakia is basically a chronic inflammatory hypertrophy in which anaplasia and malignant dyskeratosis may develop and subsequently advance to an invasive squamous cell cancer. The clinical diagnosis of primary anal leukoplakia is indicated by single or multiple slightly raised,irregular, marginated, grayish-white keratinized' patches in the anal canal. Tissue biopsy is necessary for confirmation.|HPO|N|
C1844654|X-linked form of Dyggve-Melchior-Clausen disease.|MONDO|N|
C1844662|Episodes of fever for which no infectious cause can be identified.|HPO|N|
C1844666|Altered immune function characterized by lymphoid proliferation, immune activation, and excessive autoreactivity often leading to autoimmune/inflammatory complications.|HPO|N|
C1844671|An exceedingly rare, benign, congenital, corneal tumour characterised by bilateral opacification of the cornea with superficial greyish layers and irregular raised whitish plaques, as well as fine blood vessels covering the central cornea, and intact peripheral corneal borders. No other ocular or systemic abnormality is noted. The pattern of inheritance described in the affected family is consistent with X-linked transmission.|SNOMEDCT_US|N|
C1844677|DFNX1 nonsyndromic hearing loss and deafness is part of the spectrum of PRPS1-related disorders. Hearing loss in hemizygous males is bilateral, sensorineural, and moderate to profound; prelingual or postlingual in onset; and progressive or non-progressive. The audiogram shape is variable. Hearing in female carriers can be normal or abnormal.|GeneReviews|N|
C1844678|DFNX2, also known as DFN3, is an X-linked recessive disorder characterized by progressive conductive and sensorineural hearing loss and a pathognomonic temporal bone deformity that includes dilatation of the inner auditory canal and a fistulous connection between the internal auditory canal and the cochlear basal turn, resulting in a perilymphatic fluid 'gusher' during stapes surgery (summary by de Kok et al., 1995 and Song et al., 2010).
See also choroideremia, deafness, and mental retardation (303110), a contiguous gene deletion syndrome involving the POU3F4 and CHM (300390) genes on Xq21; isolated choroideremia (303100) is caused by mutation in the CHM gene.|OMIM|N|
C1844680|This syndrome is characterised by the association of congenital mixed hearing loss with perilymphatic gusher, hypogonadism and abnormal behaviour. It has been described in five related males. Inheritance appears to be X-linked recessive and a microdeletion, encompassing the POU3F4 gene (DFN3 locus), was detected in one of the patients leading to the suggestion that deafness hypogonadism is a contiguous gene deletion syndrome.|SNOMEDCT_US|N|
C1844689|A benign growth the projects outward from the bone surface of the pelvis. Exostoses are capped by cartilage, and arise from a bone that develops from cartilage.|HPO|N|
C1844690|Reduced ability to extend (straighten) the knee joint.|HPO|N|
C1844696|The X-linked otopalatodigital (X-OPD) spectrum disorders, characterized primarily by skeletal dysplasia, include the following: Otopalatodigital syndrome type 1 (OPD1). Otopalatodigital syndrome type 2 (OPD2). Frontometaphyseal dysplasia type 1 (FMD1). Melnick-Needles syndrome (MNS). Terminal osseous dysplasia with pigmentary skin defects (TODPD). In OPD1, most manifestations are present at birth; females can present with severity similar to affected males, although some have only mild manifestations. In OPD2, females are less severely affected than related affected males. Most males with OPD2 die during the first year of life, usually from thoracic hypoplasia resulting in pulmonary insufficiency. Males who live beyond the first year of life are usually developmentally delayed and require respiratory support and assistance with feeding. In FMD1, females are less severely affected than related affected males. Males do not experience a progressive skeletal dysplasia but may have joint contractures and hand and foot malformations. Progressive scoliosis is observed in both affected males and females. In MNS, wide phenotypic variability is observed; some individuals are diagnosed in adulthood, while others require respiratory support and have reduced longevity. MNS in males results in perinatal lethality in all recorded cases. TODPD, seen only in females, is characterized by a skeletal dysplasia that is most prominent in the digits, pigmentary defects of the skin, and recurrent digital fibromata.|GeneReviews|N|
C1844702|An abnormal vertical orientation of the clivus (which normally forms a kind of slope from the sella turcica down to the region of the foramen magnum).|HPO|N|
C1844704|A flattened vertebral body shape with reduced distance between the vertebral endplates.|HPO|N|
C1844706|Absent or nearly absent fibula. (Does not include aplastic)|HPO|N|
C1844709|Displacement of the 2nd finger towards the radial side.|HPO|N|
C1844712|The presence of a fifth metatarsal bone that has not undergone ossification at an age when ossification is usually visible.|HPO|N|
C1844722|Underdevelopment of the breast on one side only.|HPO|N|
C1844734|Shortening of a leg affecting only one side.|HPO|N|
C1844738|Presence of a cutaneous membrane (flap) in the armpit.|HPO|N|
C1844751|Punched out lesions in the pigmented layer of the retina.|HPO|N|
C1844753|Congenital synostosis between two or more adjacent vertebrae (partial or complete fusion of adjacent vertabral bodies).|HPO|N|
C1844776|X-linked cone-rod dystrophy is a rare, progressive visual disorder primarily affecting cone photoreceptors (Demirci et al., 2002). Affected individuals, essentially all of whom are males, present with decreased visual acuity, myopia, photophobia, abnormal color vision, full peripheral visual fields, decreased photopic electroretinographic responses, and granularity of the macular retinal pigment epithelium. The degree of rod photoreceptor involvement is variable, with increasing degeneration. Although penetrance appears to be nearly 100%, there is variable expressivity with respect to age at onset, severity of symptoms, and findings (Hong et al., 1994).
Genetic Heterogeneity of X-linked Cone-Rod Dystrophy
Additional forms of X-linked cone-rod dystrophy include CORDX2 (300085), mapped to chromosome Xq27, and CORDX3 (300476), caused by mutation in the CACNA1F gene (300110) on chromosome Xp11.23.
For a discussion of autosomal forms of cone-rod dystrophy, see CORD2 (120970).|OMIM|N|
C1844809|Increase in bulk of the ala nasi.|HPO|N|
C1844810|Abnormally increased thickness of the nasal septum.|HPO|N|
C1844813|Increased spaces (diastemata) between most of the teeth in the same dental arch.|HPO|N|
C1844818|Over curvature of the lumbar region.|HPO|N|
C1844820|The capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes.|HPO|N|
C1844822|Rounding and broadening of the tufts of the distal phalanges.|HPO|N|
C1844825|When viewed on end (with the finger tip pointing toward the examiner's eye) the curve of the fingernail forms a tighter curve of convexity.|HPO|N|
C1844830|X-linked cleft palate and ankyloglossia is a rare, genetic developmental defect during embryogenesis syndrome characterized by the association of complete, partial or submucous cleft palate and ankyloglossia. Patients may also present abnormal uvula (e.g. absent, bifid, shortened or laterally deviated), short lingual frenulum and dental anomalies (e.g. buccal crossbite, absent and/or misshapen teeth). Digital abnormalities, such as mild clinodactyly and/or syndactyly, have also been reported.|ORDO|N|
C1844836|An X-linked retinal dystrophy, characterised by choroideraemia, causing in affected males progressive nyctalopia and eventual central blindness. Obesity, moderate intellectual disability and congenital mixed (sensorineural and conductive) deafness are also observed. Female carriers show typical retinal changes indicative of the choroideraemia carrier state.|SNOMEDCT_US|N|
C1844846|Point-shaped (punctate) calcifications affecting the carpal bones.|HPO|N|
C1844848|The presence of abnormal punctate (speckled, dot-like) calcifications in one or more tarsal bones.|HPO|N|
C1844853|X-linked chondrodysplasia punctata 1 is a disorder of cartilage and bone development that occurs almost exclusively in males. Chondrodysplasia punctata is an abnormality that appears on x-rays as spots (stippling) near the ends of bones and in cartilage. In most infants with X-linked chondrodysplasia punctata 1, this stippling is seen in bones of the ankles, toes, and fingers; however, it can also appear in other bones. The stippling generally disappears in early childhood.\n\nOther characteristic features of X-linked chondrodysplasia punctata 1 include short stature and unusually short fingertips and ends of the toes. This condition is also associated with distinctive facial features, particularly a flattened-appearing nose with crescent-shaped nostrils and a flat nasal bridge.\n\nPeople with X-linked chondrodysplasia punctata 1 typically have normal intelligence and a normal life expectancy. However, some affected individuals have had serious or life-threatening complications including abnormal thickening (stenosis) of the cartilage that makes up the airways, which restricts breathing. Also, abnormalities of spinal bones in the neck can lead to pinching (compression) of the spinal cord, which can cause pain, numbness, and weakness. Other, less common features of X-linked chondrodysplasia punctata 1 include delayed development, hearing loss, vision abnormalities, and heart defects.|MedlinePlus Genetics|N|
C1844857|Reduced superior to inferior length of the nasal septum.|HPO|N|
C1844862|A multiple congenital anomalies syndrome with manifestations of cleft palate, ocular coloboma, hypospadias, mixed conductive-sensorineural hearing loss, short stature and radio-ulnar synostosis. To date, 4 cases have been described in the literature. These manifestations overlap with those of CHARGE syndrome, however, in contrast to CHARGE syndrome, patients with Abruzzo-Erikson syndrome do not show intellectual disability, choanal atresia or genital hypoplasia. Inherited in an X-linked recessive manner, with a carrier female having a 50% chance of transmitting the mutation to her offspring.|SNOMEDCT_US|N|
C1844865|A rare genetic peripheral sensorimotor neuropathy with an X-linked recessive inheritance pattern and the childhood to adolescent-onset of progressive, distal muscle weakness and atrophy (beginning in the lower extremities and then affecting the upper extremities), as well as distal, pan sensory loss in the upper and lower extremities, pes cavus, and absent or reduced distal tendon reflexes. Pain and paraesthesia are frequently the initial sensory symptoms. Spastic paraparesis (manifested by clasp-knife sign, hyperactive deep-tendon reflexes, and Babinski sign) has also been reported.|SNOMEDCT_US|N|
C1844873|A rare genetic peripheral sensorimotor neuropathy with an X-linked recessive inheritance pattern and the infantile to childhood-onset of progressive, distal muscle weakness and atrophy (more prominent in the lower extremities than in the upper extremities), pes cavus, and absent tendon reflexes. Sensory impairment and intellectual disability has been reported in some individuals.|SNOMEDCT_US|N|
C1844887|Catel-Manzke syndrome is characterized by the Pierre Robin anomaly, which comprises cleft palate, glossoptosis, and micrognathia, and a unique form of bilateral hyperphalangy in which there is an accessory bone inserted between the second metacarpal and its corresponding proximal phalanx, resulting in radial deviation of the index finger (summary by Manzke et al., 2008).|OMIM|N|
C1844891|Displacement of the 2nd (index) finger towards the ulnar side.|HPO|N|
C1844906|Increased width of a non-thumb digit of the hand.|HPO|N|
C1844909|Recurrent infections at an early age with improvement in later childhood.|HPO|N|
C1844917|An intermittent (discontinuous) form of lactic acidemia.|HPO|N|
C1844918|An extremely rare multiple congenital abnormality syndrome that has characteristics of microcephaly, malar hypoplasia with downslanting palpebral fissures, highly arched palate, apparently low-set and protruding ears, micrognathia, short stature, bilateral hearing loss, and learning disability. Occasionally, additional features have been observed such as bilateral cryptorchidism, cardiac valvular lesions, body asymmetry, and pectus excavatum.|SNOMEDCT_US|N|
C1844919|Mononen-Karnes-Senac syndrome is characterized by skeletal dysplasia associated with finger malformations (brachydactyly with short and abducted thumbs, short index fingers, and markedly short and abducted great toes), variable mild short stature, and mild bowleg with overgrowth of the fibula. It has been described in two males, their mothers, and a maternal aunt. Females are less severely affected than males. X-linked dominant inheritance is suggested.|ORDO|N|
C1844925|An abnormal narrowing of the cervical spinal canal.|HPO|N|
C1844933|Spinocerebellar ataxia, X-linked, type 4 has characteristics of ataxia, pyramidal tract signs and adult-onset dementia. It has been described in three generations of one large family. The disease manifests during early childhood with delayed walking and tremor. The pyramidal signs appear progressively and by adulthood memory problems and dementia gradually become apparent. Transmission is X-linked but the causative gene has not yet been identified. The disease is usually fatal during the sixth decade of life.|SNOMEDCT_US|N|
C1844934|X-linked infantile spinal muscular atrophy (XL-SMA) is characterized by congenital hypotonia, areflexia, and evidence of degeneration and loss of anterior horn cells (i.e., lower motor neurons) in the spinal cord and brain stem. Often congenital contractures and/or fractures are present. Intellect is normal. Life span is significantly shortened because of progressive ventilatory insufficiency resulting from chest muscle involvement.|GeneReviews|N|
C1844935|A rare ectodermal dyplasia syndrome characterized by severe arthrogryposis, multiple ectodermal dysplasia features, cleft lip/palate, facial dysmorphism, growth deficiency and a moderate delay of psychomotor development. Ectodermal dysplasia manifestations include sparse, brittle and hypopigmented hair, xerosis, multiple nevi, small conical shaped teeth and hypodontia, and facial dysmorphism with blepharophimosis, deep-set eyes and micrognathia.|ORDO|N|
C1844936|This syndrome is a form of spinocerebellar degeneration with onset in infancy of hypotonia, ataxia, sensorineural deafness, developmental delay, esotropia and optic atrophy and by a progressive course leading to death in childhood. It has been described one family with at least six affected males from five different sibships (connected through carrier females). It is transmitted as an X-linked recessive trait.|SNOMEDCT_US|N|
C1844948|This syndrome has characteristics of microphthalmia, ankyloblepharon and intellectual deficit. It has been described in seven male patients from two generations of a Northern Ireland family. It is transmitted as an X-linked recessive trait and the causative gene is localized to the Xq27-q28 region.|SNOMEDCT_US|N|
C1845028|X-linked sideroblastic anemia and ataxia is a rare condition characterized by a blood disorder called sideroblastic anemia and movement problems known as ataxia. This condition occurs only in males.\n\nSideroblastic anemia results when developing red blood cells called erythroblasts do not make enough hemoglobin, which is the protein that carries oxygen in the blood. People with X-linked sideroblastic anemia and ataxia have mature red blood cells that are smaller than normal (microcytic) and appear pale (hypochromic) because of the shortage of hemoglobin. This disorder also leads to an abnormal accumulation of iron in red blood cells. The iron-loaded erythroblasts, which are present in bone marrow, are called ring sideroblasts. These abnormal cells give the condition its name. Unlike other forms of sideroblastic anemia, X-linked sideroblastic anemia and ataxia does not cause a potentially dangerous buildup of iron in the body. The anemia is typically mild and usually does not cause any symptoms.\n\nX-linked sideroblastic anemia and ataxia causes problems with balance and coordination that appear early in life. The ataxia primarily affects the trunk, making it difficult to sit, stand, and walk unassisted. In addition to ataxia, people with this condition often have trouble coordinating movements that involve judging distance or scale (dysmetria) and find it difficult to make rapid, alternating movements (dysdiadochokinesis). Mild speech difficulties (dysarthria), tremor, and abnormal eye movements have also been reported in some affected individuals.|MedlinePlus Genetics|N|
C1845050|X-linked reticulate pigmentary disorder shows more severe manifestations in hemizygous males compared to heterozygous females. Affected males have early onset of recurrent respiratory infections and failure to thrive resulting from inflammatory gastroenteritis or colitis. Patients also show reticular pigmentation abnormalities of the skin and may develop corneal scarring. Carrier females may be unaffected or have only pigmentary abnormalities along the lines of Blaschko (summary by Starokadomskyy et al., 2016).|OMIM|N|
C1845051|An amelogenesis imperfecta associated with mutation in a gene in the Xq22-q28 region.|MONDO|N|
C1845053|Amelogenesis imperfecta is an inherited defect of dental enamel formation that shows both clinical and genetic heterogeneity. In the hypoplastic type of AI, the enamel is of normal hardness but does not develop to normal thickness. The thinness of the enamel makes the teeth appear small. Radiographically, enamel contrasts normally from dentin. The surface of the enamel can vary, showing smooth, rough, pitted, or local forms (Witkop, 1988).|OMIM|N|
C1845055|Alpha-thalassemia X-linked intellectual disability (ATR-X) syndrome is characterized by distinctive craniofacial features, genital anomalies, hypotonia, and mild-to-profound developmental delay / intellectual disability (DD/ID). Craniofacial abnormalities include small head circumference, telecanthus or widely spaced eyes, short triangular nose, tented upper lip, and thick or everted lower lip with coarsening of the facial features over time. While all affected individuals have a normal 46,XY karyotype, genital anomalies comprise a range from hypospadias and undescended testicles, to severe hypospadias and ambiguous genitalia, to normal-appearing female external genitalia. Alpha-thalassemia, observed in about 75% of affected individuals, is mild and typically does not require treatment. Osteosarcoma has been reported in a few males with germline pathogenic variants.|GeneReviews|N|
C1845068|Syndrome with characteristics of congenital nerve deafness and piebaldness without ocular albinism. Transmission is X-linked with affected males presenting with profound sensorineural deafness and severe pigmentary abnormalities of the skin and carrier females presenting with variable hearing impairment without any pigmentary changes. The causative gene has been mapped to Xq26.3-q27.1.|SNOMEDCT_US|N|
C1845069|Ocular albinism is a genetic condition that primarily affects the eyes.  This condition reduces the coloring (pigmentation) of the iris, which is the colored part of the eye, and the retina, which is the light-sensitive tissue at the back of the eye. Pigmentation in the eye is essential for normal vision.\n\nThe most common form of ocular albinism is known as the Nettleship-Falls type or type 1.  Other forms of ocular albinism are much rarer and may be associated with additional signs and symptoms, such as hearing loss.\n\nOcular albinism is characterized by severely impaired sharpness of vision (visual acuity) and problems with combining vision from both eyes to perceive depth (stereoscopic vision). Although the vision loss is permanent, it does not worsen over time. Other eye abnormalities associated with this condition include rapid, involuntary eye movements (nystagmus); eyes that do not look in the same direction (strabismus); and increased sensitivity to light (photophobia). Many affected individuals also have abnormalities involving the optic nerves, which carry visual information from the eye to the brain.\n\nUnlike some other forms of albinism, ocular albinism does not significantly affect the color of the skin and hair.  People with this condition may have a somewhat lighter complexion than other members of their family, but these differences are usually minor.|MedlinePlus Genetics|N|
C1845076|X-linked lymphoproliferative disease (XLP) has two recognizable subtypes, XLP1 and XLP2. XLP1 is characterized predominantly by one of three commonly recognized phenotypes: Inappropriate immune response to Epstein-Barr virus (EBV) infection leading to hemophagocytic lymphohistiocytosis (HLH) or severe mononucleosis. Dysgammaglobulinemia. Lymphoproliferative disease (malignant lymphoma). XLP2 is most often characterized by HLH (often associated with EBV), dysgammaglobulinemia, and inflammatory bowel disease. HLH resulting from EBV infection is associated with an unregulated and exaggerated immune response with widespread proliferation of cytotoxic T cells, EBV-infected B cells, and macrophages. Dysgammaglobulinemia is typically hypogammaglobulinemia of one or more immunoglobulin subclasses. The malignant lymphomas are typically B-cell lymphomas, non-Hodgkin type, often extranodal, and in particular involving the intestine.|GeneReviews|N|
C1845095|X-linked deafness-5 is a neurologic disorder characterized by childhood onset of auditory neuropathy and later onset of distal sensory impairment affecting the peripheral nervous system (summary by Zong et al., 2015).|OMIM|N|
C1845096|Myopia, or nearsightedness, is a refractive error of the eye. Light rays from a distant object are focused in front of the retina and those from a near object are focused in the retina; therefore distant objects are blurry and near objects are clear (summary by Kaiser et al., 2004).
For a discussion of genetic heterogeneity of myopia, see 160700.|OMIM|N|
C1845102|Developmental and epileptic encephalopathy-8 (DEE8) is an X-linked disorder characterized by seizure onset before 2 years of age and severe developmental delay. Some patients have hyperekplexia (summary by Shimojima et al., 2011).
For general phenotypic descriptions and discussions of genetic heterogeneity of developmental and epileptic encephalopathy and hyperekplexia, see DEE1 (308350) and HKPX1 (149400), respectively.|OMIM|N|
C1845104|A retinitis pigmentosa that has material basis in variation in the chromosome region Xq28.|MONDO|N|
C1845105|Any primary ovarian failure in which the cause of the disease is a mutation in the POF1B gene.|MONDO|N|
C1845108|Unusual prominence of the median palatal raphe, which is the ridge formed by the fusion of the two plates of the skull that form the hard palate.|HPO|N|
C1845109|Increased depth of the median tongue furrow.|HPO|N|
C1845111|Decreased size of the maxillary permanent incisor.|HPO|N|
C1845116|Classic congenital or infantile nystagmus presents as conjugate, horizontal oscillations of the eyes, in primary or eccentric gaze, often with a preferred head turn or tilt. Other associated features may include mildly decreased visual acuity, strabismus, astigmatism, and occasionally head nodding. Eye movement recordings reveal that infantile nystagmus is predominantly a horizontal jerk waveform, with a diagnostic accelerating velocity slow phase. However, pendular and triangular waveforms may also be present. The nystagmus may rarely be vertical. As these patients often have normal visual acuity, it is presumed that the nystagmus represents a primary defect in the parts of the brain responsible for ocular motor control; thus the disorder has sometimes been termed 'congenital motor nystagmus' (Tarpey et al., 2006; Shiels et al., 2007).
For a discussion of genetic heterogeneity of congenital nystagmus, see NYS1 (310700).|OMIM|N|
C1845118|Idiopathic short stature is usually defined as a height below the third percentile for chronological age or minus 2 standard deviations (SD) of national height standards in the absence of specific causative disorders (Rao et al., 1997).
For a discussion of genetic heterogeneity of quantitative trait loci for stature, see STQTL1 (606255).|OMIM|N|
C1845119|Additional features seen in some people with FG syndrome include widely set eyes (hypertelorism), an upswept frontal hairline, and a large head compared to body size (relative macrocephaly). Other health problems have also been reported, including heart defects, seizures, undescended testes (cryptorchidism) in males, and a soft out-pouching in the lower abdomen (an inguinal hernia).\n\nThe physical features of FG syndrome include weak muscle tone (hypotonia), broad thumbs, and wide first (big) toes. Abnormalities of the tissue connecting the left and right halves of the brain (the corpus callosum) are also common. Most affected individuals have constipation, and many have abnormalities of the anus such as an obstruction of the anal opening (imperforate anus). People with FG syndrome also tend to have a distinctive facial appearance including small, underdeveloped ears; a tall, prominent forehead; and outside corners of the eyes that point downward (down-slanting palpebral fissures).\n\nFG syndrome affects intelligence and behavior. Almost everyone with the condition has intellectual disability, which ranges from mild to severe.  Affected individuals tend to be friendly, inquisitive, and hyperactive, with a short attention span. Compared to people with other forms of intellectual disability, their socialization and daily living skills are strong, while verbal communication and language skills tend to be weaker.\n\nFG syndrome is a genetic condition that affects many parts of the body and occurs almost exclusively in males. "FG" represents the surname initials of the first family diagnosed with the disorder.|MedlinePlus Genetics|N|
C1845123|Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period and affecting the entire musculature.|HPO|N|
C1845136|X-linked intellectual disability-retinitis pigmentosa syndrome is characterized by moderate intellectual deficit and severe, early-onset retinitis pigmentosa. It has been described in five males spanning three generations of one family. Some patients also had microcephaly. It is transmitted as an X-linked recessive trait.|ORDO|N|
C1845142|Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the ZDHHC15 gene.|MONDO|N|
C1845146|FGFR1-related Hartsfield syndrome comprises two core features: holoprosencephaly (HPE) spectrum disorder and ectrodactyly spectrum disorder. HPE spectrum disorder, resulting from failed or incomplete forebrain division early in gestation, includes alobar, semilobar, or lobar HPE. Other observed midline brain malformations include corpus callosum agenesis, absent septum pellucidum, absent olfactory bulbs and tracts, and vermian hypoplasia. Other findings associated with the HPE spectrum such as craniofacial dysmorphism, neurologic issues (developmental delay, spasticity, seizures, hypothalamic dysfunction), feeding problems, and endocrine issues (hypogonadotropic hypogonadism and central insipidus diabetes) are common. Ectrodactyly spectrum disorders are unilateral or bilateral malformations of the hands and/or feet characterized by a median cleft of hand or foot due to absence of the longitudinal central rays (also called split-hand/foot malformation). The number of digits on the right and left can vary. Polydactyly and syndactyly can also be seen.|GeneReviews|N|
C1845147|Underdevelopment of the frontal bone.|HPO|N|
C1845151|Phosphorylase kinase (PhK) deficiency causing glycogen storage disease type IX (GSD IX) results from deficiency of the enzyme phosphorylase b kinase, which has a major regulatory role in the breakdown of glycogen. The two types of PhK deficiency are liver PhK deficiency (characterized by early childhood onset of hepatomegaly and growth restriction, and often, but not always, fasting ketosis and hypoglycemia) and muscle PhK deficiency, which is considerably rarer (characterized by any of the following: exercise intolerance, myalgia, muscle cramps, myoglobinuria, and progressive muscle weakness). While symptoms and biochemical abnormalities of liver PhK deficiency were thought to improve with age, it is becoming evident that affected individuals need to be monitored for long-term complications such as liver fibrosis and cirrhosis.|GeneReviews|N|
C1845155|Presence of myoglobin in the urine following exercise.|HPO|N|
C1845165|Generally, Parkinson's disease that begins after age 50 is called late-onset disease. The condition is described as early-onset disease if signs and symptoms begin before age 50. Early-onset cases that begin before age 20 are sometimes referred to as juvenile-onset Parkinson's disease.\n\nParkinson's disease can also affect emotions and thinking ability (cognition). Some affected individuals develop psychiatric conditions such as depression and visual hallucinations. People with Parkinson's disease also have an increased risk of developing dementia, which is a decline in intellectual functions including judgment and memory.\n\nOften the first symptom of Parkinson's disease is trembling or shaking (tremor) of a limb, especially when the body is at rest. Typically, the tremor begins on one side of the body, usually in one hand. Tremors can also affect the arms, legs, feet, and face. Other characteristic symptoms of Parkinson's disease include rigidity or stiffness of the limbs and torso, slow movement (bradykinesia) or an inability to move (akinesia), and impaired balance and coordination (postural instability). These symptoms worsen slowly over time.\n\nParkinson's disease is a progressive disorder of the nervous system. The disorder affects several regions of the brain, especially an area called the substantia nigra that controls balance and movement.|MedlinePlus Genetics|N|
C1845167|Dent disease, an X-linked disorder of proximal renal tubular dysfunction, is characterized by low molecular weight (LMW) proteinuria, hypercalciuria, and at least one additional finding including nephrocalcinosis, nephrolithiasis, hematuria, hypophosphatemia, chronic kidney disease (CKD), and evidence of X-linked inheritance. Males younger than age ten years may manifest only LMW proteinuria and/or hypercalciuria, which are usually asymptomatic. Thirty to 80% of affected males develop end-stage renal disease (ESRD) between ages 30 and 50 years; in some instances ESRD does not develop until the sixth decade of life or later. The disease may also be accompanied by rickets or osteomalacia, growth restriction, and short stature. Disease severity can vary within the same family. Males with Dent disease 2 (caused by pathogenic variants in OCRL) may also have mild intellectual disability, cataracts, and/or elevated muscle enzymes. Due to random X-chromosome inactivation, some female carriers may manifest hypercalciuria and, rarely, renal calculi and moderate LMW proteinuria. Females rarely develop CKD.|GeneReviews|N|
C1845168|X-linked recessive hypophosphatemic rickets (XLHRR) is a form of X-linked hypercalciuric nephrolithiasis, which comprises a group of disorders characterized by proximal renal tubular reabsorptive failure, hypercalciuria, nephrocalcinosis, and renal insufficiency. These disorders have also been referred to as the 'Dent disease complex' (Scheinman, 1998; Gambaro et al., 2004). For a general discussion of Dent disease, see 300009.|OMIM|N|
C1845169|High urine phosphate in the presence of hypophosphatemia.|HPO|N|
C1845202|The syndrome of inappropriate antidiuretic hormone secretion (SIADH) is a common cause of hyponatremia. The syndrome manifests as an inability to excrete a free water load, with inappropriately concentrated urine and resultant hyponatremia, hypoosmolality, and natriuresis. SIADH occurs in a setting of normal blood volume, without evidence of renal disease or deficiency of thyroxine or cortisol. Although usually transient, SIADH may be chronic; it is often associated with drug use or a lesion in the central nervous system or lung. When the cardinal features of SIADH were defined by Bartter and Schwartz (1967), levels of AVP could not be measured. Subsequently, radioimmunoassays revealed that SIADH is usually associated with measurably elevated serum levels of AVP. Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is characterized by a clinical picture similar to SIADH, but is associated with undetectable levels of AVP (Feldman et al., 2005).|OMIM|N|
C1845206|An decreased level of renin in the blood.|HPO|N|
C1845243|Claes-Jensen type of X-linked syndromic intellectual developmental disorder (MRXSCJ) is characterized by impaired intellectual development with substantial clinical heterogeneity in affected males. However, males are usually reported to have short stature, microcephaly, hyperreflexia, and aggressive behavior. In rare cases, female carriers exhibit mildly impaired intellectual development or learning difficulties (summary by Guerra et al., 2020).|OMIM|N|
C1845250|The presence of a forehead that is abnormally small.|HPO|N|
C1845251|Reduced muscle tone of a muscle that is innervated by the facial nerve (the seventh cranial nerve).|HPO|N|
C1845272|The presence of an abnormally prominent antihelix.|HPO|N|
C1845274|Any deviation from the normal motor coordination of the eyes that allows for bilateral fixation on a single object.|HPO|N|
C1845285|Martin-Probst syndrome (MRXSMP) is characterized by congenital sensorineural hearing loss, mild to severe cognitive impairment, short stature, and facial dysmorphism, including telecanthus, hypertelorism, epicanthic folds, broad mouth, and low-set ears. Variable features include renal and genitourinary abnormalities and late-onset pancytopenia (Martin et al., 2000).|OMIM|N|
C1845292|Fanconi anemia (FA) is characterized by physical abnormalities, bone marrow failure, and increased risk for malignancy. Physical abnormalities, present in approximately 75% of affected individuals, include one or more of the following: short stature, abnormal skin pigmentation, skeletal malformations of the upper and/or lower limbs, microcephaly, and ophthalmic and genitourinary tract anomalies. Progressive bone marrow failure with pancytopenia typically presents in the first decade, often initially with thrombocytopenia or leukopenia. The incidence of acute myeloid leukemia is 13% by age 50 years. Solid tumors – particularly of the head and neck, skin, and genitourinary tract – are more common in individuals with FA.|GeneReviews|N|
C1845293|Any primary ovarian failure in which the cause of the disease is a mutation in the DIAPH2 gene.|MONDO|N|
C1845294|Hypergonadotropic ovarian failure is a heterogeneous disorder that, in the most severe forms, is a result of ovarian dysgenesis. Ovarian dysgenesis accounts for about half the cases of primary amenorrhea (Timmreck and Reindollar, 2003). Most cases are associated with major X chromosome abnormalities. Accordingly, genetic studies have identified several loci at Xq and Xp11.2-p.22.1 whose functions are relevant for ovarian development (Zinn et al., 1998; Simpson and Rajkovic, 1999; Marozzi et al., 2000).|OMIM|N|
C1845333|Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the ZNF81 gene.|MONDO|N|
C1845336|The spectrum of MECP2-related phenotypes in females ranges from classic Rett syndrome to variant Rett syndrome with a broader clinical phenotype (either milder or more severe than classic Rett syndrome) to mild learning disabilities; the spectrum in males ranges from severe neonatal encephalopathy to pyramidal signs, parkinsonism, and macroorchidism (PPM-X) syndrome to severe syndromic/nonsyndromic intellectual disability. Females: Classic Rett syndrome, a progressive neurodevelopmental disorder primarily affecting girls, is characterized by apparently normal psychomotor development during the first six to 18 months of life, followed by a short period of developmental stagnation, then rapid regression in language and motor skills, followed by long-term stability. During the phase of rapid regression, repetitive, stereotypic hand movements replace purposeful hand use. Additional findings include fits of screaming and inconsolable crying, autistic features, panic-like attacks, bruxism, episodic apnea and/or hyperpnea, gait ataxia and apraxia, tremors, seizures, and acquired microcephaly. Males: Severe neonatal-onset encephalopathy, the most common phenotype in affected males, is characterized by a relentless clinical course that follows a metabolic-degenerative type of pattern, abnormal tone, involuntary movements, severe seizures, and breathing abnormalities. Death often occurs before age two years.|GeneReviews|N|
C1845337|The state of not having relationships with peers outside of school or organized activity appropriate to developmental level. This may be caused by behavioral or physical barriers.|HPO|N|
C1845359|A rare distal hereditary motor neuropathy with characteristics of slowly progressive atrophy and weakness of distal muscles of hands and feet with normal deep tendon reflexes or absent ankle reflexes and minimal or no sensory loss, sometimes mild proximal weakness in the legs and feet and hand deformities in males.|SNOMEDCT_US|N|
C1845366|X-linked intellectual deficit-cerebellar hypoplasia, also known as OPHN1 syndrome, is a rare syndromic form of cerebellar dysgenesis characterized by moderate to severe intellectual deficit and cerebellar abnormalities.|ORDO|N|
C1845407|Cone-rod dystrophy is a retinal disorder with predominantly cone involvement. Rod impairment may occur at the same time as the cone impairment or appear later. Patients with CORD usually have reduced visual acuity, photophobia, and color vision defects (summary by Huang et al., 2013).
For a discussion of genetic heterogeneity of X-linked cone-rod dystrophy, see 304020.|OMIM|N|
C1845446|Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome is a developmental anomalies syndrome characterized by coloboma of the iris and optic nerve, facial dysmorphism (high forehead, microretrognathia, low-set ears), intellectual deficit, agenesis of the corpus callosum (ACC), sensorineural hearing loss, skeletal anomalies and short stature.|ORDO|N|
C1845447|Laterally protruding ear that lacks antihelical folding (including absence of inferior and superior crura).|HPO|N|
C1845526|Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the ARHGEF6 gene.|MONDO|N|
C1845530|X-linked intellectual disability, Stocco Dos Santos type is characterised by severe intellectual deficit with hyperactivity, language delay, congenital hip luxation, short stature, kyphosis and recurrent respiratory infections. Aggressive behaviour and frequent epileptic seizures may also be present. The syndrome has been described in four boys from the same family. Transmission is X-linked and is caused by mutations in the <i>KIAA1202</i> gene, localised to the Xp11.2 region.|ORDO|N|
C1845539|Autism, the prototypic pervasive developmental disorder (PDD), is usually apparent by 3 years of age. It is characterized by a triad of limited or absent verbal communication, a lack of reciprocal social interaction or responsiveness, and restricted, stereotypic, and ritualized patterns of interests and behavior (Bailey et al., 1996; Risch et al., 1999). 'Autism spectrum disorder,' sometimes referred to as ASD, is a broader phenotype encompassing the less severe disorders Asperger syndrome (see ASPG1; 608638) and pervasive developmental disorder, not otherwise specified (PDD-NOS). 'Broad autism phenotype' includes individuals with some symptoms of autism, but who do not meet the full criteria for autism or other disorders. Impaired intellectual development coexists in approximately two-thirds of individuals with ASD, except for Asperger syndrome, in which intellectual disability is conspicuously absent (Jones et al., 2008). Genetic studies in autism often include family members with these less stringent diagnoses (Schellenberg et al., 2006).
For a discussion of genetic heterogeneity of autism, see 209850.|OMIM|N|
C1845540|Autism, the prototypic pervasive developmental disorder (PDD), is usually apparent by 3 years of age. It is characterized by a triad of limited or absent verbal communication, a lack of reciprocal social interaction or responsiveness, and restricted, stereotypic, and ritualized patterns of interests and behavior (Bailey et al., 1996; Risch et al., 1999). 'Autism spectrum disorder,' sometimes referred to as ASD, is a broader phenotype encompassing the less severe disorders Asperger syndrome (see ASPG1; 608638) and pervasive developmental disorder, not otherwise specified (PDD-NOS). 'Broad autism phenotype' includes individuals with some symptoms of autism, but who do not meet the full criteria for autism or other disorders. Mental retardation coexists in approximately two-thirds of individuals with ASD, except for Asperger syndrome, in which mental retardation is conspicuously absent (Jones et al., 2008). Genetic studies in autism often include family members with these less stringent diagnoses (Schellenberg et al., 2006).
For a discussion of genetic heterogeneity of autism, see 209850.|OMIM|N|
C1845543|The Hedera type of X-linked syndromic intellectual developmental disorder (MRXSH) is characterized by global developmental delay apparent from infancy and progressive neurologic decline with abnormal movements, spasticity, and seizures. Brain imaging shows volume loss of cortical white and gray matter, thin corpus callosum, and myelination defects, consistent with a neurodegenerative process. Only males are affected (summary by Hirose et al., 2019).|OMIM|N|
C1845546|CASK disorders include a spectrum of phenotypes in both females and males. Two main types of clinical presentation are seen: Microcephaly with pontine and cerebellar hypoplasia (MICPCH), generally associated with pathogenic loss-of-function variants in CASK. X-linked intellectual disability (XLID) with or without nystagmus, generally associated with hypomorphic CASK pathogenic variants. MICPCH is typically seen in females with moderate-to-severe intellectual disability, progressive microcephaly with or without ophthalmologic anomalies, and sensorineural hearing loss. Most are able to sit independently; 20%-25% attain the ability to walk; language is nearly absent in most. Neurologic features may include axial hypotonia, hypertonia/spasticity of the extremities, and dystonia or other movement disorders. Nearly 40% have seizures by age ten years. Behaviors may include sleep disturbances, hand stereotypies, and self biting. MICPCH in males may occur with or without severe epileptic encephalopathy in addition to severe-to-profound developmental delay. When seizures are present they occur early and may be intractable. In individuals and families with milder (i.e., hypomorphic) pathogenic variants, the clinical phenotype is usually that of XLID with or without nystagmus and additional clinical features. Males have mild-to-severe intellectual disability, with or without nystagmus and other ocular features. Females typically have normal intelligence with some displaying mild-to-severe intellectual disability with or without ocular features.|GeneReviews|N|
C1845604|An increased susceptibility to bacterial meningitis as manifested by a medical history of recurrent episodes of bacterial meningitis.|HPO|N|
C1845667|X-linked retinitis pigmentosa (XLRP) is a severe form of inherited retinal degeneration that primarily affects the rod photoreceptors (Demirci et al., 2002). It typically causes an early-onset night blindness and loss of peripheral vision, often causing patients to become legally blind by the age of 30 to 40 years. In RP3, affected males have a severe phenotype, and carrier females show a wide spectrum of clinical features ranging from completely asymptomatic to severe RP (Jin et al., 2007). Mutation in the RPGR gene is believed to account for approximately 70% of XLRP (Vervoort et al., 2000).
For a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000.|OMIM|N|
C1845668|Polymicrogyria (PMG) is a malformation of cortical development in which the brain surface is irregular and the normal gyral pattern replaced by multiple small, partly fused gyri separated by shallow sulci. Microscopic examination shows a simplified 4-layered or unlayered cortex. Several patterns of PMG, including bilateral frontal, bilateral perisylvian, and bilateral mesial occipital PMG, have been described on the basis of their topographic distribution. All but the perisylvian form appear to be rare. Bilateral perisylvian PMG (BPP) often results in a typical clinical syndrome that is manifested by mild mental retardation, epilepsy, and pseudobulbar palsy, which causes difficulties with expressive speech and feeding (Kuzniecky et al., 1993).
PMG may be a feature of other conditions as well (see, e.g., 300643).|OMIM|N|
C1845672|Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the ACSL4 gene.|MONDO|N|
C1845837|GATA1-related cytopenia is characterized by thrombocytopenia and/or anemia ranging from mild to severe. One or more of the following may also be present: platelet dysfunction, mild ß-thalassemia, neutropenia, and congenital erythropoietic porphyria (CEP) in males. Thrombocytopenia typically presents in infancy as a bleeding disorder with easy bruising and mucosal bleeding (e.g., epistaxis). Anemia ranges from minimal (mild dyserythropoiesis) to severe (hydrops fetalis requiring in utero transfusion). At the extreme end of the clinical spectrum, severe hemorrhage and/or erythrocyte transfusion dependence are life long; at the milder end, anemia and the risk for bleeding may decrease spontaneously with age. Heterozygous females may have mild-to-moderate symptoms such as menorrhagia.|GeneReviews|N|
C1845847|Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues.|HPO|N|
C1845861|The Cabezas type of X-linked syndromic intellectual developmental disorder is characterized primarily by short stature, hypogonadism, and abnormal gait, with other more variable features such as speech delay, prominent lower lip, and tremor (Cabezas et al., 2000).|OMIM|N|
C1845862|The creatine deficiency disorders (CDDs), inborn errors of creatine metabolism and transport, comprise three disorders: the creatine biosynthesis disorders guanidinoacetate methyltransferase (GAMT) deficiency and L-arginine:glycine amidinotransferase (AGAT) deficiency; and creatine transporter (CRTR) deficiency. Developmental delay and cognitive dysfunction or intellectual disability and speech-language disorder are common to all three CDDs. Onset of clinical manifestations of GAMT deficiency (reported in ~130 individuals) is between ages three months and two years; in addition to developmental delays, the majority of individuals have epilepsy and develop a behavior disorder (e.g., hyperactivity, autism, or self-injurious behavior), and about 30% have movement disorder. AGAT deficiency has been reported in 16 individuals; none have had epilepsy or movement disorders. Clinical findings of CRTR deficiency in affected males (reported in ~130 individuals) in addition to developmental delays include epilepsy (variable seizure types and may be intractable) and behavior disorders (e.g., attention deficit and/or hyperactivity, autistic features, impulsivity, social anxiety), hypotonia, and (less commonly) a movement disorder. Poor weight gain with constipation and prolonged QTc on EKG have been reported. While mild-to-moderate intellectual disability is commonly observed up to age four years, the majority of adult males with CRTR deficiency have been reported to have severe intellectual disability. Females heterozygous for CRTR deficiency are typically either asymptomatic or have mild intellectual disability, although a more severe phenotype resembling the male phenotype has been reported.|GeneReviews|N|
C1845877|Ocular coloboma is a developmental defect of the eye resulting from abnormal or incomplete fusion of the optic fissure. The defect can be unilateral or bilateral and can involve the cornea, iris, ciliary body, lens, choroid, retina, and/or optic nerves. Clinically, coloboma is often associated with microphthalmia or clinical anophthalmia and can occur as part of complex malformation syndromes (summary by Wang et al., 2012).
Genetic Heterogeneity of Microphthalmia/Coloboma
Colobomatous microphthalmia-1 (MCOPCB1) has been mapped to the X chromosome. MCOPCB2 (605738) has been mapped to chromosome 15q12-q15. MCOPCB3 (610092) is caused by mutation in the CHX10 gene (142993) on chromosome 14q24. MCOPCB5 (611638) is caused by mutation in the SHH gene (600725) on chromosome 7q36. MCOPCB6 (613703) is caused by mutation in the GDF3 gene (606522) on chromosome 12p13. MCOPCB7 (614497) is caused by mutation in the ABCB6 gene (605452) on chromosome 2q36. MCOPCB8 (see 601186) is caused by mutation in the STRA6 gene (601745) on chromosome 15q24. MCOPCB9 (615145) is caused by mutation in the TENM3 gene (610083) on chromosome 4q35. MCOPCB10 (616428) is caused by mutation in the RBP4 gene (180250) on chromosome 10q23. MCOPCB11 (620731) is caused by mutation in the FZD5 gene (601723) on chromosome 2q33. MCOPCB12 (120200) is caused by mutation in the PAX4 gene (607108) on chromosome 11p13.
See 251505 for a discussion of MCOPCB4.|OMIM|N|
C1845878|Irregular distribution of the teeth along the dental arch, i.e., and irregular spatial pattern of teeth.|HPO|N|
C1845902|Although the phenotypic spectrum and severity of FG syndrome is wide, the cardinal features include congenital hypotonia, delayed speech development, relative macrocephaly, dysmorphic facies, and anal anomalies or severe constipation (Unger et al., 2007).
For a general phenotypic description and a discussion of genetic heterogeneity of FG syndrome, see FGS1 (305450).|OMIM|N|
C1845903|Immunodeficiency-61 (IMD61) is an X-linked recessive primary immunodeficiency characterized by onset of recurrent infections in early childhood due to impaired antibody production. Affected individuals have normal numbers of circulating B and T cells, but B cells have an intrinsic defect in antibody production (summary by Keller et al., 2018).
For a general phenotypic description of X-linked agammaglobulinemia, see 300755.|OMIM|N|
C1845977|A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.|HPO|N|
C1845987|The WAS-related disorders, which include Wiskott-Aldrich syndrome, X-linked thrombocytopenia (XLT), and X-linked congenital neutropenia (XLN), are a spectrum of disorders of hematopoietic cells, with predominant defects of platelets and lymphocytes caused by pathogenic variants in WAS. WAS-related disorders usually present in infancy. Affected males have thrombocytopenia with intermittent mucosal bleeding, bloody diarrhea, and intermittent or chronic petechiae and purpura; eczema; and recurrent bacterial and viral infections, particularly of the ear. At least 40% of those who survive the early complications develop one or more autoimmune conditions including hemolytic anemia, immune thrombocytopenic purpura, immune-mediated neutropenia, rheumatoid arthritis, vasculitis, and immune-mediated damage to the kidneys and liver. Individuals with a WAS-related disorder, particularly those who have been exposed to Epstein-Barr virus (EBV), are at increased risk of developing lymphomas, which often occur in unusual, extranodal locations including the brain, lung, or gastrointestinal tract. Males with XLT have thrombocytopenia with small platelets; other complications of Wiskott-Aldrich syndrome, including eczema and immune dysfunction, are usually mild or absent. Males with XLN have congenital neutropenia, myeloid dysplasia, and lymphoid cell abnormalities.|GeneReviews|N|
C1846006|Anhidrotic ectodermal dysplasia with immune deficiency (EDA-ID) is a form of ectodermal dysplasia, which is a group of conditions characterized by abnormal development of ectodermal tissues including the skin, hair, teeth, and sweat glands. In addition, immune system function is reduced in people with EDA-ID. The signs and symptoms of EDA-ID are evident soon after birth, and due to the severity of the immune system problems, most people with this condition survive only into childhood.\n\nSkin abnormalities in children with EDA-ID include areas that are dry, wrinkled, or darker in color than the surrounding skin. Affected individuals tend to have sparse scalp and body hair (hypotrichosis). EDA-ID is also characterized by missing teeth (hypodontia) or teeth that are small and pointed. Most children with EDA-ID have a reduced ability to sweat (hypohidrosis) because they have fewer sweat glands than normal or their sweat glands do not function properly. An inability to sweat (anhidrosis) can lead to a dangerously high body temperature (hyperthermia), particularly in hot weather and during exercise, because the body cannot cool itself by evaporating sweat.\n\nThe immune deficiency in EDA-ID varies among individuals with this condition. Children with EDA-ID often produce abnormally low levels of proteins called antibodies or immunoglobulins. Antibodies help protect the body against infection by attaching to specific foreign particles and germs, marking them for destruction. A reduction in antibodies makes it difficult for children with this disorder to fight off infections. In EDA-ID, immune system cells called T cells and B cells have a decreased ability to recognize and respond to foreign invaders (such as bacteria, viruses, and yeast) that have sugar molecules attached to their surface (glycan antigens). Other key aspects of the immune system may also be impaired, leading to recurrent infections.\n\nChildren with EDA-ID commonly get infections in the lungs (pneumonia), ears (otitis media), sinuses (sinusitis), lymph nodes (lymphadenitis), skin, bones, and gastrointestinal tract. Approximately one quarter of individuals with EDA-ID have disorders involving abnormal inflammation, such as inflammatory bowel disease or rheumatoid arthritis.\n\nThere are two forms of EDA-ID that have similar signs and symptoms and are distinguished by the modes of inheritance: X-linked recessive or autosomal dominant.|MedlinePlus Genetics|N|
C1846008|Ectodermal dysplasia with immunodeficiency-1 (EDAID1) is an X-linked recessive disorder that characteristically affects only males. Affected individuals have onset of recurrent severe infections due to immunodeficiency in early infancy or in the first years of life. There is increased susceptibility to bacterial, pneumococcal, mycobacterial, and fungal infections. Laboratory studies usually show dysgammaglobulinemia with low IgG subsets and normal or increased IgA and IgM, consistent with impaired 'class-switching' of B cells, although immunologic abnormalities may be subtle compared to the clinical picture, and B- and T-cell numbers are usually normal. There is a poor antibody response to polysaccharide vaccinations, particularly pneumococcus; response to other vaccinations is variable. Patients also have features of ectodermal dysplasia, including conical incisors, hypo/anhidrosis, and thin skin or hair. Severely affected individuals may also show lymphedema, osteopetrosis, and, rarely, hematologic abnormalities. The phenotype is highly variable, likely due to different hypomorphic mutations, and may be fatal in childhood. Intravenous immunoglobulins and prophylactic antibiotics are used as treatment; some patients may benefit from bone marrow transplantation. Although only males tend to be affected with immunodeficiency, many patients inherit a mutation from a mother who has mild features of IP or conical teeth (summary by Doffinger et al., 2001, Orange et al., 2004, Roberts et al., 2010, Heller et al., 2020).
Genetic Heterogeneity of Ectodermal Dysplasia and Immune Deficiency
Also see EDAID2 (612132), caused by mutation in the NFKBIA gene (164008).|OMIM|N|
C1846009|IMAGe syndrome is an acronym for the major findings of intrauterine growth restriction (IUGR), metaphyseal dysplasia, adrenal hypoplasia congenita, and genitourinary abnormalities (in males). Findings reported in individuals with a clinical and/or molecular diagnosis include: IUGR; Some type of skeletal abnormality (most commonly delayed bone age and short stature, and occasionally, metaphyseal and epiphyseal dysplasia of varying severity); Adrenal insufficiency often presenting in the first month of life as an adrenal crisis or (rarely) later in childhood with failure to thrive and recurrent vomiting; Genital abnormalities in males (cryptorchidism, micropenis, and hypospadias) but not in females. Hypotonia and developmental delay are reported in some individuals; cognitive outcome appears to be normal in the majority of individuals.|GeneReviews|N|
C1846010|Uruguay faciocardiomusculoskeletal syndrome (FCMSU) is an X-linked disorder in which affected males have a distinctive facial appearance, muscular hypertrophy, and cardiac ventricular hypertrophy leading to premature death. Additional features include large, broad, and deformed hands and feet, congenital hip dislocation, and scoliosis (summary by Xue et al., 2016).|OMIM|N|
C1846011|Coarse facial features reminiscent of those of a boxer.|HPO|N|
C1846033|Multinodular goiter is a common disorder characterized by nodular enlargement of the thyroid gland. It occurs with a female:male ratio of 5:1 (summary by Capon et al., 2000).
For additional phenotypic information and a discussion of genetic heterogeneity of multinodular goiter, see MNG1 (138800).|OMIM|N|
C1846044|An extremely rare genetic endocrine disease with characteristics of primary adrenal insufficiency, dystrophic myopathy, hepatic steatosis, severe psychomotor delay, megalocornea, failure to thrive, chronic constipation, and terminal bladder ectasia which can lead to death. There have been no further descriptions in the literature since 1982.|SNOMEDCT_US|N|
C1846046|Spastic paraplegias (SPGs) are a genetically heterogeneous group of neurologic disorders characterized by progressive weakness and spasticity of the legs. Complicated SPGs are accompanied by additional neurologic symptoms such as cerebellar ataxia, sensory loss, mental retardation, nystagmus, and optic atrophy (summary by Steinmuller et al., 1997).
A locus for spastic paraplegia-16 has been mapped to Xq11.2-q23 (Steinmuller et al., 1997).
For a discussion of genetic heterogeneity of X-linked spastic paraplegia, see 303350.|OMIM|N|
C1846055|Siderius-type syndromic intellectual developmental disorder (MRXSSD) is an X-linked disorder in which affected males have mildly impaired intellectual development, mild dysmorphic features, and bilateral or unilateral cleft lip/palate (summary by Koivisto et al., 2007).|OMIM|N|
C1846056|X-linked intellectual disability, Abidi type is characterized by X-linked intellectual deficit and mild variable manifestations, including short stature, small head circumference, sloping forehead, hearing loss, abnormally shaped ears, and small testes. It has been described in eight affected males from three generations.|ORDO|N|
C1846057|MRXSA is an X-linked recessive neurodevelopmental disorder characterized by global developmental delay with impaired intellectual development, usually accompanied by walking difficulties and poor or absent speech. Affected individuals have dysmorphic features, including large head circumference, downslanting palpebral fissures, bulbous nose, high-arched palate, short stature, and small hands and feet. Ocular anomalies, including strabismus, exotropia, myopia, and keratoconus, are common. Some patients may develop seizures. Additional variable features, such as mild congenital heart defects, joint stiffness, renal anomalies, and hemangiomas, may also be present (summary by Lee et al., 2020).|OMIM|N|
C1846058|MECP2 duplication syndrome is a severe neurodevelopmental disorder characterized by early-onset hypotonia, feeding difficulty, gastrointestinal manifestations including gastroesophageal reflux and constipation, delayed psychomotor development leading to severe intellectual disability, poor speech development, progressive spasticity, recurrent respiratory infections (in ~75% of affected individuals), and seizures (in ~50%). MECP2 duplication syndrome is 100% penetrant in males. Occasionally females have been described with a MECP2 duplication and a range of findings from mild intellectual disability to a phenotype similar to that seen in males. In addition to the core features, autistic behaviors, nonspecific neuroradiologic findings on brain MRI, mottled skin, and urogenital anomalies have been observed in several affected boys.|GeneReviews|N|
C1846059|Roifman syndrome is a multisystem disorder characterized by growth retardation, spondyloepiphyseal dysplasia, retinal dystrophy, distinctive facial dysmorphism, and immunodeficiency (summary by de Vries et al., 2006).|OMIM|N|
C1846061|A type of disproportionate short stature characterized by a short trunk but a average-sized limbs with onset in infancy.|HPO|N|
C1846129|Terminal osseous dysplasia is an X-linked dominant male-lethal disease characterized by skeletal dysplasia of the limbs, pigmentary defects of the skin, and recurrent digital fibroma during infancy (Sun et al., 2010).|OMIM|N|
C1846131|Generalized-onset tonic-clonic seizures that are provoked by flashing or flickering light.|HPO|N|
C1846142|Hoyeraal-Hreidarsson syndrome is a multisystem disorder affecting males and is characterized by aplastic anemia, immunodeficiency, microcephaly, cerebellar hypoplasia, and growth retardation.|OMIM|N|
C1846145|The Shashi type of X-linked syndromic intellectual developmental disorder (MRXSSH) is characterized by moderately impaired intellectual development and distinctive craniofacial skeletal structure and dysmorphism (Shashi et al., 2015).|OMIM|N|
C1846148|X-linked spondyloepimetaphyseal dysplasia with hypomyelinating leukodystrophy (SEMDHL) is an X-linked recessive developmental disorder characterized by slowly progressive skeletal and neurologic abnormalities, including short stature, large and deformed joints, significant motor impairment, visual defects, and sometimes cognitive deficits. Affected individuals typically have normal early development in the first year or so of life, followed by development regression and the development of symptoms. Brain imaging shows white matter abnormalities consistent with hypomyelinating leukodystrophy (summary by Miyake et al., 2017).|OMIM|N|
C1846149|The term progressive intellectual disability should be used if intelligence decreases/deteriorates over time.|HPO|N|
C1846151|An increase in size of the anatomic space between the arachnoid membrane and pia mater.|HPO|N|
C1846154|Wide, concave anterior rib end.|HPO|N|
C1846157|A cone-shaped deformity of the proximal epiphysis of the femur.|HPO|N|
C1846167|Classic Hodgkin lymphoma is a malignancy of B-cell origin in which the neoplastic cells, known as 'Reed-Sternberg' (RS) cells, are characteristically binucleated (summary by Salipante et al., 2009). See also 236000.|OMIM|N|
C1846169|A rare chromosomal anomaly, partial deletion of the long arm of chromosome X, with characteristics of a combination of clinical manifestations of X-linked myotubular myopathy and a 46,XY disorder of sex development. Patients present with a severe form of congenital myopathy and abnormal male genitalia.|SNOMEDCT_US|N|
C1846170|This syndrome has characteristics of X-linked intellectual deficit, obesity, hypogonadism, and tapering fingers. It has been described in ten males from a large Pakistani family. The causative gene has been located to Xp11.3-Xq23.|SNOMEDCT_US|N|
C1846171|X-linked lissencephaly-2 (LISX2) is a developmental disorder characterized by structural brain anomalies, early-onset intractable seizures, severe psychomotor retardation, and ambiguous genitalia. Males are severely affected and often die within the first days or months of life, whereas females may be unaffected or have a milder phenotype (Bonneau et al., 2002). LISX2 is part of a phenotypic spectrum of disorders caused by mutation in the ARX gene comprising a nearly continuous series of developmental disorders ranging from hydranencephaly and lissencephaly to Proud syndrome (300004) to infantile spasms without brain malformations (DEE1; 308350) to syndromic (309510) and nonsyndromic (300419) mental retardation (Kato et al., 2004; Wallerstein et al., 2008).
For a general phenotypic description and a discussion of genetic heterogeneity of lissencephaly, see LIS1 (607432).|OMIM|N|
C1846174|Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the TSPAN7 gene.|MONDO|N|
C1846175|Simpson-Golabi-Behmel syndrome type 2 (SGBS2) is an X-linked recessive disorder in which affected males have severely impaired intellectual development, ciliary dyskinesia, and macrocephaly (summary by Budny et al., 2006).
For a general phenotypic description and a discussion of genetic heterogeneity of Simpson-Golabi-Behmel syndrome, see 312870.|OMIM|N|
C1846223|Developmental hypoplasia of the adrenal glands.|HPO|N|
C1846242|The AMME complex is an X-linked contiguous gene deletion syndrome with features of Alport syndrome (see 301050), impaired intellectual development, midface hypoplasia, and elliptocytosis in affected males (summary by Meloni et al., 2002).|OMIM|N|
C1846257|In mammals, the potential imbalance of gene expression for the two X chromosomes in females is resolved by inactivating one X in all the somatic tissues. In the embryo proper, the process of X inactivation is believed to be random between the maternal and paternal chromosomes. Thus, most females have mosaic expression of maternal and paternal alleles of X chromosome loci, with a contribution of about 50% from each chromosome. However, some females show a skewed ratio of X inactivation, which can be due to negative or positive selection, or to an underlying primary genetic process. Belmont (1996) observed familial clustering of females with highly skewed patterns of X inactivation and reviewed the genetic control of X inactivation.
See also SXI1 (300087), due to mutation in the XIST gene (314670) on chromosome Xq13.2.|OMIM|N|
C1846265|Oculofaciocardiodental (OFCD) syndrome is a condition that affects the development of the eyes (oculo-), facial features (facio-), heart (cardio-) and teeth (dental). This condition occurs only in females.\n\nThe eye abnormalities associated with OFCD syndrome can affect one or both eyes. Many people with this condition are born with eyeballs that are abnormally small (microphthalmia). Other eye problems can include clouding of the lens (cataract) and a higher risk of glaucoma, an eye disease that increases the pressure in the eye. These abnormalities can lead to vision loss or blindness.\n\nPeople with OFCD syndrome often have a long, narrow face with distinctive facial features, including deep-set eyes and a broad nasal tip that is divided by a cleft. Some affected people have an opening in the roof of the mouth called a cleft palate.\n\nHeart defects are another common feature of OFCD syndrome. Babies with this condition may be born with a hole between two chambers of the heart (an atrial or ventricular septal defect) or a leak in one of the valves that controls blood flow through the heart (mitral valve prolapse).\n\nTeeth with very large roots (radiculomegaly) are characteristic of OFCD syndrome. Additional dental abnormalities can include delayed loss of primary (baby) teeth, missing or abnormally small teeth, misaligned teeth, and defective tooth enamel.|MedlinePlus Genetics|N|
C1846278|MEHMO syndrome is a rare intellectual disability disorder that exhibits phenotypic heterogeneity and is variably characterized by mental retardation, epileptic seizures, hypogonadism with hypogenitalism, microcephaly, and obesity. Life expectancy ranges from less than 1 year to adulthood, and the condition is associated with significant morbidity and mortality (summary by Gregory et al., 2019).|OMIM|N|
C1846288|Recurrent episodes of decreased concentration of glucose in the blood.|HPO|N|
C1846331|Baraitser-Winter cerebrofrontofacial (BWCFF) syndrome is a multiple congenital anomaly syndrome characterized by typical craniofacial features and intellectual disability. Many (but not all) affected individuals have pachygyria that is predominantly frontal, wasting of the shoulder girdle muscles, and sensory impairment due to iris or retinal coloboma and/or sensorineural deafness. Intellectual disability, which is common but variable, is related to the severity of the brain malformations. Seizures, congenital heart defects, renal malformations, and gastrointestinal dysfunction are also common.|GeneReviews|N|
C1846339|An abnormal backward rotation of the hip relative to the knee such that the hips are externally rotated with the foot pointed outward instead of straight ahead (out-toeing).|HPO|N|
C1846343|Bartter syndrome refers to a group of disorders that are unified by autosomal recessive transmission of impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and hypercalciuria. Clinical disease results from defective renal reabsorption of sodium chloride in the thick ascending limb (TAL) of the Henle loop, where 30% of filtered salt is normally reabsorbed (Simon et al., 1997).
Patients with antenatal (or neonatal) forms of Bartter syndrome (e.g., BARTS1, 601678) typically present with premature birth associated with polyhydramnios and low birth weight and may develop life-threatening dehydration in the neonatal period. Patients with classic Bartter syndrome present later in life and may be sporadically asymptomatic or mildly symptomatic (summary by Simon et al., 1996 and Fremont and Chan, 2012).
Genetic Heterogeneity of Bartter Syndrome
Antenatal Bartter syndrome type 1 (601678) is caused by loss-of-function mutations in the butmetanide-sensitive Na-K-2Cl cotransporter NKCC2 (SLC12A1; 600839). Antenatal Bartter syndrome type 2 (241200) is caused by loss-of-function mutations in the ATP-sensitive potassium channel ROMK (KCNJ1; 600359). One form of neonatal Bartter syndrome with sensorineural deafness, Bartter syndrome type 4A (602522), is caused by mutation in the BSND gene (606412). Another form of neonatal Bartter syndrome with sensorineural deafness, Bartter syndrome type 4B (613090), is caused by simultaneous mutation in both the CLCNKA (602024) and CLCNKB (602023) genes.
Also see autosomal dominant hypocalcemia-1 with Bartter syndrome (601198), which is sometimes referred to as Bartter syndrome type 5 (Fremont and Chan, 2012), caused by mutation in the CASR gene (601199).
See Gitelman syndrome (GTLMN; 263800), which is often referred to as a mild variant of Bartter syndrome, caused by mutation in the thiazide-sensitive sodium-chloride cotransporter SLC12A3 (600968).|OMIM|N|
C1846345|An abnormally increased activity of the renin-angiotensin system, causing hypertension by a combination of volume excess and vasoconstrictor mechanisms.|HPO|N|
C1846347|A high concentration of one or more electrolytes in the urine in the presence of low serum concentrations of the electrolyte(s).|HPO|N|
C1846348|High urine potassium in the presence of hypokalemia.|HPO|N|
C1846349|Any impairment of reabsorption of chloride by the kidney.|HPO|N|
C1846351|An increased concentration of potassium(1+) in the urine.|HPO|N|
C1846352|An increased concentration of chloride in the urine.|HPO|N|
C1846357|Meckel syndrome is an autosomal recessive pre- or perinatal lethal malformation syndrome characterized by renal cystic dysplasia and variably associated features including developmental anomalies of the central nervous system (typically occipital encephalocele), hepatic ductal dysplasia and cysts, and postaxial polydactyly (summary by Smith et al., 2006).
For a more complete phenotypic description and information on genetic heterogeneity of Meckel syndrome, see MKS1 (249000).|OMIM|N|
C1846366|Idiopathic scoliosis is a structurally fixed lateral curvature of the spine with a rotatory component. There is at least a 10 degree curvature as demonstrated by upright spine roentgenograms by the Cobb method (Weinstein, 1994).
For a discussion of genetic heterogeneity of isolated scoliosis, see 181800.|OMIM|N|
C1846367|Spinocerebellar ataxia-19 (SCA19) is an autosomal dominant disorder characterized by progressive cerebellar ataxia with a variable age of onset (age 2 years to late adulthood). Other neurologic manifestations include developmental delay and cognitive impairment; movement disorders including myoclonus, dystonia, rigidity, and bradykinesia; and seizures.
For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (164400).|OMIM|N|
C1846385|Focal cortical dysplasia type II (FCORD2), or focal cortical dysplasia of Taylor (FCDT), is a cerebral developmental malformation that results in a clinical phenotype of intractable epilepsy, usually requiring surgery. FCORD2 has been classified histologically into 2 subtypes: a type without balloon cells, known as type IIA, and a type with balloon cells, known as type IIB (Palmini et al., 2004). Affected individuals have refractory seizures, usually with onset in early childhood, and may have persistent intellectual disability. Most patients require neurosurgical resection of affected brain tissue to ameliorate seizure frequency and severity (summary by Moller et al., 2016).|OMIM|N|
C1846418|Any coronary artery disease in which the cause of the disease is a mutation in the CX3CR1 gene.|MONDO|N|
C1846421|Lathosterolosis (LATHOS) is an autosomal recessive disorder characterized by a recognizable pattern of multiple congenital anomalies involving axial and appendicular skeleton, liver, central nervous and urogenital systems, and lysosomal storage. It is caused by a defect of cholesterol biosynthesis due to sterol C5-desaturase deficiency (summary by Rossi et al., 2007).|OMIM|N|
C1846422|The presence of a bilobed gallbladder, related to a duplication of the gallbladder primordium.|HPO|N|
C1846423|Height of the vermilion of the upper lip in the midline more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the upper lip in the frontal view (subjective).|HPO|N|
C1846431|Smith-McCort dysplasia (SMC) is a rare autosomal recessive osteochondrodysplasia characterized by short limbs and trunk with barrel-shaped chest. The radiographic phenotype includes platyspondyly, generalized abnormalities of the epiphyses and metaphyses, and a distinctive lacy appearance of the iliac crest, features identical to those of Dyggve-Melchior-Clausen disease. Spinal cord compression due to atlantoaxial instability occurs in both SMC and DMC (Spranger et al., 1976; Nakamura et al., 1997).
Genetic Heterogeneity of Smith-McCort Dysplasia
Smith-McCort dysplasia-2 (SMC2; 615222) is caused by mutation in the RAB33B gene (605950) on chromosome 4q31.|OMIM|N|
C1846434|Underdeveloped scapula.|HPO|N|
C1846435|A type of disproportionate short stature characterized by a short trunk but a average-sized limbs.|HPO|N|
C1846439|The odontoid process, or dens, is a bony projection from the axis (C2) upward into the ring of the atlas (C1) at the top of the spine. During embryogenesis, the body of the odontoid derives from the centrum of the atlas and separates from the atlas, fusing with the superior portion of the axis. If the odontoid is hypoplastic or absent, the attachments for the apical and alar ligaments are missing, allowing for excessive rotation of the atlas, craniocervical instability, and possibly cord compression (summary by Stevens et al., 2009).|OMIM|N|
C1846442|Underdeveloped acetabulae.|HPO|N|
C1846446|Delayed ossification of the femoral head.|HPO|N|
C1846447|There is normally one ossification center in the head of the femur. This term applies if there are multiple such centers.|HPO|N|
C1846449|An alteration of the normally smooth contour of the epiphysis leading to an irregular appearance.|HPO|N|
C1846459|A type of stenosis of the external auditory meatus in which the opening of the external auditory meatus appears as a vertical slit.|HPO|N|
C1846460|An abnormality of the external ear.|HPO|N|
C1846462|An impaired ability of the eye to move in the outward direction (towards the side of the head).|HPO|N|
C1846463|Reduced ability to move the eye in the direction of the nose.|HPO|N|
C1846473|Developmental defect associated with absence of one or more metacarpal bones.|HPO|N|
C1846474|Underdevelopment of the thenar eminence with reduced palmar soft tissue mass surrounding the base of the thumb.|HPO|N|
C1846477|Underdevelopment of the pectoral muscle.|HPO|N|
C1846478|Underdevelopment of muscles of the arm.|HPO|N|
C1846492|VPS13D movement disorder is a hyperkinetic movement disorder (dystonia, chorea, and/or ataxia) of variable age of onset that can be associated with developmental delay. Onset ranges from birth to adulthood. Individuals can present in childhood with motor delays and gait instability. Cognitive impairment ranging from mild intellectual disability to developmental delay has been reported, and several individuals have normal cognitive function. Individuals have also presented as young adults with gait difficulties caused by spastic ataxia or ataxia. In addition to gait ataxia, affected individuals had limb ataxia, dysarthria, and eye movement abnormalities (macro-saccadic oscillations, nystagmus, and saccadic pursuit). Additional features reported in some individuals include peripheral neuropathy and/or seizures. The disorder progresses to spastic ataxia or generalized dystonia, which can lead to loss of independent ambulation.|GeneReviews|N|
C1846520|A cataract that has material basis in mutation in the region 2p12.|MONDO|N|
C1846529|Cone-rod dystrophy-10 (CORD10) is characterized by progressive loss of visual acuity and color vision, followed by night blindness and loss of peripheral vision. Patients may experience photophobia and epiphora in bright light (Abid et al., 2006).
Mutation in SEMA4A can also cause a form of retinitis pigmentosa (RP35; 610282).
For a general phenotypic description and a discussion of genetic heterogeneity of cone-rod dystrophy, see 120970.|OMIM|N|
C1846534|Asthma-related traits include clinical symptoms of asthma, such as coughing, wheezing, and dyspnea; bronchial hyperresponsiveness (BHR) as assessed by methacholine challenge test; serum IgE levels; atopy; and atopic dermatitis (Laitinen et al., 2001; Illig and Wjst, 2002; Pillai et al., 2006).
For a general phenotypic description and a discussion of genetic heterogeneity of asthma, see 600807.|OMIM|N|
C1846545|Caspase 8 deficiency is a syndrome of lymphadenopathy and splenomegaly, marginal elevation of 'double-negative T cells' (DNT; T-cell receptor alpha/beta+, CD4-/CD8-), defective FAS-induced apoptosis, and defective T-, B-, and natural killer (NK)-cell activation, with recurrent bacterial and viral infections (summary by Madkaikar et al., 2011).|OMIM|N|
C1846546|An increased susceptibility to infections involving both the paranasal sinuses and the lungs, as manifested by a history of recurrent sinopulmonary infections.|HPO|N|
C1846550|Decreased or impaired activation of T cells in response to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific.|HPO|N|
C1846551|A reduced ability of a B cell to become activated, i.e., the change in morphology and behavior of|HPO|N|
C1846564|Spastic paraplegia 7 (SPG7) is characterized by insidiously progressive bilateral leg weakness and spasticity. Most affected individuals have decreased vibration sense and cerebellar signs. Onset is mostly in adulthood, although symptoms may start as early as age 11 years and as late as age 72 years. Additional features including ataxia (gait and limbs), spastic dysarthria, dysphagia, pale optic disks, ataxia, nystagmus, strabismus, ptosis, hearing loss, motor and sensory neuropathy, amyotrophy, scoliosis, pes cavus, and urinary sphincter disturbances may be observed.|GeneReviews|N|
C1846566|Deterioration of the tissues of the lateral corticospinal tracts.|HPO|N|
C1846574|Spinocerebellar ataxia with axonal neuropathy type 1 (SCAN1) is characterized by late-childhood-onset slowly progressive cerebellar ataxia and distal sensorimotor axonal neuropathy. Gaze nystagmus and dysarthria usually develop after the onset of ataxic gait. As the disease advances, pain and touch sensation in the hands and feet become impaired; vibration sense is lost in hands and lower thighs. Individuals with advanced disease develop a steppage gait and pes cavus and eventually become wheelchair dependent. Cognitive dysfunction – present in some – manifests as mild intellectual disability and poor executive function. To date only seven affected individuals have been described from three apparently unrelated consanguineous families (one from Saudi Arabia and two from Oman); therefore, it is likely that the full phenotypic spectrum of this disorder is not yet known.|GeneReviews|N|
C1846576|An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 10p11.23-q21.1.|MONDO|N|
C1846582|Pantothenate kinase-associated neurodegeneration (PKAN) is a type of neurodegeneration with brain iron accumulation (NBIA). The phenotypic spectrum of PKAN includes classic PKAN and atypical PKAN. Classic PKAN is characterized by early-childhood onset of progressive dystonia, dysarthria, rigidity, and choreoathetosis. Pigmentary retinal degeneration is common. Atypical PKAN is characterized by later onset (age >10 years), prominent speech defects, psychiatric disturbances, and more gradual progression of disease.|GeneReviews|N|
C1846617|A multiple congenital anomaly disorder characterized by anonychia congenita totalis and microcephaly, and normal intelligence along with some minor anomalies including single transverse palmar creases, fifth-finger clinodactyly and widely-spaced teeth.|ORDO|N|
C1846620|A type of focal clonic seizure characterized by sustained rhythmic jerking rapidly involves one side of the body at seizure onset.|HPO|N|
C1846631|Celiac disease, also known as celiac sprue and gluten-sensitive enteropathy, is a multifactorial disorder of the small intestine that is influenced by both environmental and genetic factors. It is characterized by malabsorption resulting from inflammatory injury to the mucosa of the small intestine after the ingestion of wheat gluten or related rye and barley proteins (summary by Farrell and Kelly, 2002).
For additional information and a discussion of genetic heterogeneity of celiac disease, see 212750.|OMIM|N|
C1846632|Signs and symptoms of congenital hypothyroidism result from the shortage of thyroid hormones. Affected babies may show no features of the condition, although some babies with congenital hypothyroidism are less active and sleep more than normal. They may have difficulty feeding and experience constipation. If untreated, congenital hypothyroidism can lead to intellectual disability and slow growth. In the United States and many other countries, all hospitals test newborns for congenital hypothyroidism. If treatment begins in the first two weeks after birth, infants usually develop normally.\n\nCongenital hypothyroidism occurs when the thyroid gland fails to develop or function properly. In 80 to 85 percent of cases, the thyroid gland is absent, severely reduced in size (hypoplastic), or abnormally located. These cases are classified as thyroid dysgenesis. In the remainder of cases, a normal-sized or enlarged thyroid gland (goiter) is present, but production of thyroid hormones is decreased or absent. Most of these cases occur when one of several steps in the hormone synthesis process is impaired; these cases are classified as thyroid dyshormonogenesis. Less commonly, reduction or absence of thyroid hormone production is caused by impaired stimulation of the production process (which is normally done by a structure at the base of the brain called the pituitary gland), even though the process itself is unimpaired. These cases are classified as central (or pituitary) hypothyroidism.\n\nCongenital hypothyroidism can also occur as part of syndromes that affect other organs and tissues in the body. These forms of the condition are described as syndromic. Some common forms of syndromic hypothyroidism include Pendred syndrome, Bamforth-Lazarus syndrome, and brain-lung-thyroid syndrome.\n\nCongenital hypothyroidism is a partial or complete loss of function of the thyroid gland (hypothyroidism) that affects infants from birth (congenital). The thyroid gland is a butterfly-shaped tissue in the lower neck. It makes iodine-containing hormones that play an important role in regulating growth, brain development, and the rate of chemical reactions in the body (metabolism). People with congenital hypothyroidism have lower-than-normal levels of these important hormones.|MedlinePlus Genetics|N|
C1846647|Autosomal recessive form of nonsyndromic deafness.|MONDO|N|
C1846648|Amish lethal microcephaly is characterized by severe congenital microcephaly and highly elevated 2-ketoglutarate or lactic acidosis. The occipitofrontal circumference is typically more than two standard deviations (occasionally >6 SD) below the mean; anterior and posterior fontanels are closed at birth and facial features are distorted. The average life span of an affected infant is between five and six months among the Lancaster Amish, although an affected Amish-Mennonite child was reported to be living with severe developmental delay at age seven years.|GeneReviews|N|
C1846671|This syndrome has characteristics of cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies. It has been described in three siblings from one family. Dysmorphic features include protruding forehead, hypertelorism, broad nasal bridge, wide anterior fontanelle and short philtrum, down turning mouth, micrognathia and low-set ears. The limbs show rhizomelic shortening. Additional malformations are not constant: omphalocele, bilateral microphthalmia, cataract, narrow chest, ambiguous genitalia, cardiac ventricular septal defect and agenesis of the corpus callosum. The condition seems to be inherited as an autosomal recessive trait. Prognosis is poor.|SNOMEDCT_US|N|
C1846672|MDGDC5 is an autosomal recessive muscular dystrophy characterized by variable age at onset, normal cognition, and no structural brain changes (Brockington et al., 2001). It is part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1; 128239), collectively known  as 'dystroglycanopathies' (Mercuri et al., 2006).
For a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type C, see MDDGC1 (609308).|OMIM|N|
C1846674|Muscle hypertrophy affecting the thighs.|HPO|N|
C1846678|An abnormal reduction in the amount of air a person can expel following maximal inspiration.|HPO|N|
C1846685|A pure form of hereditary spastic paraplegia with characteristics of a slowly progressive and relatively benign spastic paraplegia presenting in adulthood with spastic gait, lower limb hyperreflexia, extensor plantar responses, bladder dysfunction (urinary urgency and/or incontinence), and mild sensory and motor peripheral neuropathy.|SNOMEDCT_US|N|
C1846689|Moyamoya disease is a progressive cerebral angiopathy characterized by bilateral internal carotid artery stenosis and abnormal collateral vessels. The abnormal vessels resemble a 'puff of smoke' (moyamoya) on cerebral angiogram. Affected individuals can develop transient ischemic attacks and/or cerebral infarction, and rupture of the collateral vessels can cause intracranial hemorrhage (summary by Kamada et al., 2011).
For a general phenotypic description and a discussion of genetic heterogeneity of moyamoya disease, see MYMY1 (252350).|OMIM|N|
C1846707|Spinocerebellar ataxia type 17 (SCA17) is characterized by ataxia, dementia, and involuntary movements, including chorea and dystonia. Psychiatric symptoms, pyramidal signs, and rigidity are common. The age of onset ranges from three to 55 years. Individuals with full-penetrance alleles develop neurologic and/or psychiatric symptoms by age 50 years. Ataxia and psychiatric abnormalities are frequently the initial findings, followed by involuntary movement, parkinsonism, dementia, and pyramidal signs. Brain MRI shows variable atrophy of the cerebrum, brain stem, and cerebellum. The clinical features correlate with the length of the polyglutamine expansion but are not absolutely predictive of the clinical course.|GeneReviews|N|
C1846722|Al-Gazali-Bakalinova syndrome (AGBK) is characterized by multiple epiphyseal dysplasia, macrocephaly, and distinctive facial features including frontal bossing, hypertelorism, flat malar regions, low-set ears, and short neck. Other features include pectus excavatum, spindle-shaped fingers, clinodactyly, prominent joints, and genu valgum (summary by Ali et al., 2012).|OMIM|N|
C1846735|An Alzheimer's disease that is characterized by an associated with variation in the region 20p12.2-q11.21.|MONDO|N|
C1846758|Any nasopharyngeal carcinoma in which the cause of the disease is a mutation in the TP53 gene.|MONDO|N|
C1846784|Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MYO3A gene.|MONDO|N|
C1846790|Classic Joubert syndrome (JS) is characterized by three primary findings: A distinctive cerebellar and brain stem malformation called the molar tooth sign (MTS). Hypotonia. Developmental delays. Often these findings are accompanied by episodic tachypnea or apnea and/or atypical eye movements. In general, the breathing abnormalities improve with age, truncal ataxia develops over time, and acquisition of gross motor milestones is delayed. Cognitive abilities are variable, ranging from severe intellectual disability to normal. Additional findings can include retinal dystrophy, renal disease, ocular colobomas, occipital encephalocele, hepatic fibrosis, polydactyly, oral hamartomas, and endocrine abnormalities. Both intra- and interfamilial variation are seen.|GeneReviews|N|
C1846796|Anauxetic dysplasia (ANXD1) is a form of spondylometaepiphyseal dysplasia characterized by the prenatal onset of extreme short stature, an adult height of less than 85 cm, hypodontia, and mild mental retardation. Major radiographic characteristics are late-maturing ovoid vertebral bodies with concave dorsal surfaces in the lumbar region; small capital femoral epiphyses; hypoplastic femoral necks; hypoplastic iliac bodies and shallow acetabulae; irregular metaphyseal mineralization and demarcation of the long tubular bones; short first and fifth metacarpals with widened shafts; very short and broad phalanges with small, late-ossifying epiphyses and bullet-shaped middle phalanges; and midface hypoplasia. The number of chondrocytes is severely reduced in the resting and proliferating cartilage, with diminished columnization of the hypertrophic zone (summary by Thiel et al., 2005).
Mutations in RMRP also cause 2 milder types of short stature with susceptibility to cancer, cartilage-hair hypoplasia (CHH; 250250) and metaphyseal dysplasia without hypotrichosis (250460).
Genetic Heterogeneity of Anauxetic Dysplasia
Anauxetic dysplasia-2 (ANXD2; 617396) is caused by mutation in the POP1 gene (602486) on chromosome 8q22. ANXD3 (618853) is caused by mutation in the NEPRO gene (617089) on chromosome 3q13.|OMIM|N|
C1846798|A partial dislocation of one or more intervertebral joints in the cervical vertebral column.|HPO|N|
C1846803|Reduction in the size or volume of epiphyses.|HPO|N|
C1846821|An abnormality of the process of blood coagulation. That is, altered ability or inability of the blood to clot.|HPO|N|
C1846823|Autosomal recessive distal hereditary motor neuronopathy-3 (HMNR3), also known as distal spinal muscular atrophy (DSMA) and distal hereditary motor neuronopathy (dHMN or HMN), is characterized by distal muscle weakness and wasting without significant sensory involvement.
For a discussion of genetic heterogeneity of autosomal recessive HMN, see HMNR1 (604320).
Harding (1993) classified autosomal recessive distal hereditary motor neuronopathy as dHMN IV (HMN4) and dHMN III (HMN3). Both have juvenile onset and differ only by less severe involvement in HMN3. However, Viollet et al. (2004) reported an extended Lebanese kindred in which both HMN III and HMN IV occurred, suggesting that the same gene was involved in both phenotypes (see Irobi et al., 2006).|OMIM|N|
C1846829|Atrophy of the interosseus muscles (including the palmar interossei that lie on the anterior aspect of the metacarpals, the dorsal interosseus muscles of the hand, which lie between the intercarpals, the plantar interosseus muscles, which lie underneath the metatarsal bones, and the dorsal interossei, which are located between the metatarsal bones.|HPO|N|
C1846839|Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the WHRN gene.|MONDO|N|
C1846843|Autosomal dominant multiple epiphyseal dysplasia (MED) presents in early childhood, usually with pain in the hips and/or knees after exercise. Affected children complain of fatigue with long-distance walking. Waddling gait may be present. Adult height is either in the lower range of normal or mildly shortened. The limbs are relatively short in comparison to the trunk. Pain and joint deformity progress, resulting in early-onset osteoarthritis, particularly of the large weight-bearing joints.|GeneReviews|N|
C1846853|Delayed maturation and calcification of any of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones.|HPO|N|
C1846862|LRRK2 Parkinson disease (PD) is characterized by features consistent with idiopathic PD: initial motor features of slowly progressive asymmetric tremor at rest and/or bradykinesia, cogwheel muscle rigidity, postural instability, and gait abnormalities that may include festination and freezing. Certain nonmotor symptoms in LRRK2-PD, especially REM sleep behavior disorder and cognitive decline, may occur at similar or slightly reduced frequency compared to typical idiopathic* PD. Onset is generally after age 50, although early-onset (in the 20s) and late-onset (in the 90s) disease has been described. * Idiopathic PD refers to the presence of signs and symptoms of PD for which the etiology is currently unknown and in which there is no known family history of PD.|GeneReviews|N|
C1846865|Focal proliferation of glial cells in the substantia nigra.|HPO|N|
C1846868|Parkinsonism is a clinical syndrome that is a feature of a number of different diseases, including Parkinson disease itself, other neurodegenerative diseases such as progressive supranuclear palsy, and as a side-effect of some neuroleptic medications. Some but not all individuals with Parkinsonism show responsiveness to dopaminergic medication defined as a substantial reduction of amelioration of the component signs of Parkinsonism (including mainly tremor, bradykinesia, rigidity, and postural instability) upon administration of dopaminergic medication.|HPO|N|
C1846896|Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the OTOA gene.|MONDO|N|
C1846911|A tendency to hold the chin elevated by about 20 to 30 degrees to compensate for a limitation of eye movement.|HPO|N|
C1846922|Autosomal dominant deafness-21 (DFNA21) is characterized by nonsyndromic progressive sensorineural hearing loss. The mean age at onset is 30.6 years, with a range from infancy to late adulthood. There is a high prevalence of this genetic form of deafness in the Dutch population (summary by de Bruijn et al., 2021).|OMIM|N|
C1846950|Short (hypoplastic) middle phalanx of finger, affecting one or more fingers.|HPO|N|
C1846955|Abnormally early fusion of the bone growth plate.|NCI|N|
C1846979|Senior-Loken syndrome-4 (SLSN4) is an autosomal recessive disorder characterized by the association of the cystic renal disorder nephronophthisis with late-onset retinitis pigmentosa (Schuermann et al., 2002).
For a general phenotypic description and a discussion of genetic heterogeneity of Senior-Loken syndrome, see 266900.|OMIM|N|
C1846980|Senior-Løken syndrome is a rare disorder characterized by the combination of two specific features: a kidney condition called nephronophthisis and an eye condition known as Leber congenital amaurosis.\n\nNephronophthisis causes fluid-filled cysts to develop in the kidneys beginning in childhood. These cysts impair kidney function, initially causing increased urine production (polyuria), excessive thirst (polydipsia), general weakness, and extreme tiredness (fatigue). Nephronophthisis leads to end-stage renal disease (ESRD) later in childhood or in adolescence. ESRD is a life-threatening failure of kidney function that occurs when the kidneys are no longer able to filter fluids and waste products from the body effectively.\n\nLeber congenital amaurosis primarily affects the retina, which is the specialized tissue at the back of the eye that detects light and color. This condition causes vision problems, including an increased sensitivity to light (photophobia), involuntary movements of the eyes (nystagmus), and extreme farsightedness (hyperopia). Some people with Senior-Løken syndrome  develop the signs of Leber congenital amaurosis within the first few years of life, while others do not develop vision problems until later in childhood.|MedlinePlus Genetics|N|
C1847013|The nephronophthisis (NPH) phenotype is characterized by reduced renal concentrating ability, chronic tubulointerstitial nephritis, cystic renal disease, and progression to end-stage renal disease (ESRD) before age 30 years. Three age-based clinical subtypes are recognized: infantile, juvenile, and adolescent/adult. Infantile NPH can present in utero with oligohydramnios sequence (limb contractures, pulmonary hypoplasia, and facial dysmorphisms) or postnatally with renal manifestations that progress to ESRD before age 3 years. Juvenile NPH, the most prevalent subtype, typically presents with polydipsia and polyuria, growth retardation, chronic iron-resistant anemia, or other findings related to chronic kidney disease (CKD). Hypertension is typically absent due to salt wasting. ESRD develops at a median age of 13 years. Ultrasound findings are increased echogenicity, reduced corticomedullary differentiation, and renal cysts (in 50% of affected individuals). Histologic findings include tubulointerstitial fibrosis, thickened and disrupted tubular basement membrane, sporadic corticomedullary cysts, and normal or reduced kidney size. Adolescent/adult NPH is clinically similar to juvenile NPH, but ESRD develops at a median age of 19 years. Within a subtype, inter- and intrafamilial variability in rate of progression to ESRD is considerable. Approximately 80%-90% of individuals with the NPH phenotype have no extrarenal features (i.e., they have isolated NPH); ~10%-20% have extrarenal manifestations that constitute a recognizable syndrome (e.g., Joubert syndrome, Bardet-Biedl syndrome, Jeune syndrome and related skeletal disorders, Meckel-Gruber syndrome, Senior-Løken syndrome, Leber congenital amaurosis, COACH syndrome, and oculomotor apraxia, Cogan type).|GeneReviews|N|
C1847024|Oculocutaneous albinism type I is an autosomal recessive disorder characterized by absence of pigment in hair, skin, and eyes, and does not vary with race or age. Severe nystagmus, photophobia, and reduced visual acuity are common features. OCA type I is divided into 2 types: type IA, characterized by complete lack of tyrosinase activity due to production of an inactive enzyme, and type IB, characterized by reduced activity of tyrosinase.
Although OCA caused by mutations in the TYR gene was classically known as 'tyrosinase-negative' OCA, Tripathi et al. (1992) noted that some patients with 'tyrosinase-positive' OCA may indeed have TYR mutations resulting in residual enzyme activity. These patients can be classified as having OCA1B.|OMIM|N|
C1847089|Usher syndrome type I (USH1) is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa (RP). Unless fitted with a cochlear implant, individuals do not typically develop speech. RP, a progressive, bilateral, symmetric degeneration of rod and cone functions of the retina, develops in adolescence, resulting in progressively constricted visual fields and impaired visual acuity.|GeneReviews|N|
C1847117|An abnormal dilatation of the fourth cerebral ventricle.|HPO|N|
C1847132|An extremely rare form of oculocutaneous albinism type 1 characterized by temperature sensitive hair pigmentation leading to dark hair on the hands, feet, legs, arms and chest (cooler body areas) and white or pale yellow hair on the scalp, axilla and pubic area (warmer body areas). Nystagmus and reduced visual acuity are also noted.|ORDO|N|
C1847165|Bilateral tonic-clonic seizure of either generalized or focal onset occurring on or soon after wakening (typically within 90 minutes of waking, regardless of the time of day).|HPO|N|
C1847189|Congenital absence of the scaphoid..|HPO|N|
C1847197|Primary intraosseous vascular malformation (VMPI), previously called intraosseous hemangioma, is a rare malformation that usually involves the vertebral column and the skull. The most commonly affected bones in the skull are the mandible and the maxilla, and life-threatening bleeding after a simple tooth extraction is frequent (Vargel et al., 2002).|OMIM|N|
C1847200|Alzheimer's disease is a degenerative disease of the brain that causes dementia, which is a gradual loss of memory, judgment, and ability to function. This disorder usually appears in people older than age 65, but less common forms of the disease appear earlier in adulthood.\n\nAs the disorder progresses, some people with Alzheimer's disease experience personality and behavioral changes and have trouble interacting in a socially appropriate manner. Other common symptoms include agitation, restlessness, withdrawal, and loss of language skills. People with Alzheimer's disease usually require total care during the advanced stages of the disease.\n\nIndividuals with Alzheimer's disease usually survive 8 to 10 years after the appearance of symptoms, but the course of the disease can range from 1 to 25 years. Survival is usually shorter in individuals diagnosed after age 80 than in those diagnosed at a younger age. In Alzheimer's disease, death usually results from pneumonia, malnutrition, or general body wasting (inanition).\n\nAlzheimer's disease can be classified as early-onset or late-onset. The signs and symptoms of the early-onset form appear between a person's thirties and mid-sixties, while the late-onset form appears during or after a person's mid-sixties. The early-onset form of Alzheimer's disease is much less common than the late-onset form, accounting for less than 10 percent of all cases of Alzheimer's disease.\n\nMemory loss is the most common sign of Alzheimer's disease. Forgetfulness may be subtle at first, but the loss of memory worsens over time until it interferes with most aspects of daily living. Even in familiar settings, a person with Alzheimer's disease may get lost or become confused. Routine tasks such as preparing meals, doing laundry, and performing other household chores can be challenging. Additionally, it may become difficult to recognize people and name objects. Affected people increasingly require help with dressing, eating, and personal care.|MedlinePlus Genetics|N|
C1847319|A familial syndrome characterized by gastrointestinal stromal tumors and paragangliomas, often at multiple sites. It is a very rare syndrome presenting at a young age. The gastric stromal sarcomas are multifocal and the paragangliomas are multicentric. The clinical spectrum of this syndrome varies widely, depending on the localization and the size of the tumors. The vast majority of cases are due to germline mutations of the succinate dehydrogenase (SDH) subunit genes SDHB, SDHC and SDHD. Predisposition to developing these tumors is inherited in an autosomal dominant manner with incomplete penetrance.|SNOMEDCT_US|N|
C1847351|Any familial pancreatic carcinoma in which the cause of the disease is a mutation in the PALLD gene.|MONDO|N|
C1847352|Complex cortical dysplasia with other brain malformations-14A (CDCBM14A) is an autosomal recessive neurologic disorder characterized by global developmental delay with impaired intellectual development, motor delay, poor speech development, and early-onset seizures, often focal or atypical absence. Additional features may include strabismus, nystagmus, exo- or esotropia, axial hypotonia, and spasticity. Brain imaging shows bilateral frontoparietal polymicrogyria, a frontal-predominant cobblestone malformation of the cortex, scalloping of the cortical/white matter junction, enlarged ventricles, and hypoplasia of the pons, brainstem, and cerebellum. The disorder can be classified as a malformation of cortical development (summary by Parrini et al., 2009; Luo et al., 2011; Zulfiqar et al., 2021).
For a discussion of genetic heterogeneity of CDCBM, see CDCBM1 (614039).|OMIM|N|
C1847356|A type of polymicrogyria with a gradient of severity (anterior more severe than posterior) extending from frontal poles posteriorly to precentral gyrus and inferiorly to frontal operculum.|HPO|N|
C1847360|Generally, Parkinson's disease that begins after age 50 is called late-onset disease. The condition is described as early-onset disease if signs and symptoms begin before age 50. Early-onset cases that begin before age 20 are sometimes referred to as juvenile-onset Parkinson's disease.\n\nParkinson's disease can also affect emotions and thinking ability (cognition). Some affected individuals develop psychiatric conditions such as depression and visual hallucinations. People with Parkinson's disease also have an increased risk of developing dementia, which is a decline in intellectual functions including judgment and memory.\n\nOften the first symptom of Parkinson's disease is trembling or shaking (tremor) of a limb, especially when the body is at rest. Typically, the tremor begins on one side of the body, usually in one hand. Tremors can also affect the arms, legs, feet, and face. Other characteristic symptoms of Parkinson's disease include rigidity or stiffness of the limbs and torso, slow movement (bradykinesia) or an inability to move (akinesia), and impaired balance and coordination (postural instability). These symptoms worsen slowly over time.\n\nParkinson's disease is a progressive disorder of the nervous system. The disorder affects several regions of the brain, especially an area called the substantia nigra that controls balance and movement.|MedlinePlus Genetics|N|
C1847383|Absence of germinal centers in lymph nodes. Germinal centers are the parts of lymph nodes in which B lymphocytes proliferate, differentiate, mutate through somatic hypermutation and class switch during antibody responses.|HPO|N|
C1847397|A reduced ejection fraction and an enlarged left ventricle chamber, the latter by an increased resistance to filling with increased filling pressures. Systolic dysfunction is clinically associated with left ventricular failure in the presence of marked cardiomegaly.|HPO|N|
C1847399|Sleep bruxism is a stereotyped movement disorder characterized by grinding or clenching of the teeth during sleep (American Academy of Sleep Medicine, 2005). It is a parasomnia, defined as a clinical disorder resulting in undesirable physical phenomena that occur predominantly during sleep. Parasomnias are not abnormalities of the processes responsible for sleep and wake states (summary by Hublin and Kaprio, 2003).|OMIM|N|
C1847406|The autosomal dominant TRPV4 disorders (previously considered to be clinically distinct phenotypes before their molecular basis was discovered) are now grouped into neuromuscular disorders and skeletal dysplasias; however, the overlap within each group is considerable. Affected individuals typically have either neuromuscular or skeletal manifestations alone, and in only rare instances an overlap syndrome has been reported. The three autosomal dominant neuromuscular disorders (mildest to most severe) are: Charcot-Marie-Tooth disease type 2C. Scapuloperoneal spinal muscular atrophy. Congenital distal spinal muscular atrophy. The autosomal dominant neuromuscular disorders are characterized by a congenital-onset, static, or later-onset progressive peripheral neuropathy with variable combinations of laryngeal dysfunction (i.e., vocal fold paresis), respiratory dysfunction, and joint contractures. The six autosomal dominant skeletal dysplasias (mildest to most severe) are: Familial digital arthropathy-brachydactyly. Autosomal dominant brachyolmia. Spondylometaphyseal dysplasia, Kozlowski type. Spondyloepiphyseal dysplasia, Maroteaux type. Parastremmatic dysplasia. Metatropic dysplasia. The skeletal dysplasia is characterized by brachydactyly (in all 6); the five that are more severe have short stature that varies from mild to severe with progressive spinal deformity and involvement of the long bones and pelvis. In the mildest of the autosomal dominant TRPV4 disorders life span is normal; in the most severe it is shortened. Bilateral progressive sensorineural hearing loss (SNHL) can occur with both autosomal dominant neuromuscular disorders and skeletal dysplasias.|GeneReviews|N|
C1847408|Disproportionately short middle and distal phalanges compared to the hand/foot.|HPO|N|
C1847425|An abnormal resistance to glucose, i.e., a reduction in the ability to maintain glucose levels in the blood stream within normal limits following oral administration of glucose.|HPO|N|
C1847492|Eating disorders are characterized by severe disturbances in eating behavior that typically have onset during late adolescence and early adulthood. Three major types are recognized: anorexia nervosa (AN), bulimia nervosa (BN; 607499), and eating disorder not otherwise specified (EDNOS). AN is characterized by obsessive fear of weight gain, severely restricted eating, and low body weight. In women, AN has the highest mortality among the psychiatric disorders (Sullivan, 1995). AN is divided into 2 clinical subtypes, restricting anorexia nervosa (RAN) and binge-eating/purging anorexia nervosa (BPAN). BN can occur at any body weight and is characterized by binge-eating and compensatory weight-loss behaviors. Family studies have indicated an increased prevalence of eating disorders in relatives of probands with AN (Lilenfeld et al., 1998), and twin studies (Holland et al., 1984; Wade et al., 2000) have estimated concordance rates for monozygotic twins with AN to be 52 to 56%, whereas concordance rates for dizygotic twins with AN have been estimated to be 5 to 11% (Grice et al., 2002).|OMIM|N|
C1847493|Peripheral arterial occlusive disease (PAOD) results from atherosclerosis of large and medium peripheral arteries, as well as the aorta. Many risk factors contribute to PAOD, including smoking, diabetes, hypertension, and hyperlipidemia. PAOD often coexists with coronary artery disease and cerebrovascular disease.|OMIM|N|
C1847501|The phenotypic spectrum of glucose transporter type 1 deficiency syndrome (Glut1 DS) is now known to be a continuum that includes the classic phenotype as well as paroxysmal exercise-induced dyskinesia and epilepsy (previously known as dystonia 18 [DYT18]) and paroxysmal choreoathetosis with spasticity (previously known as dystonia 9 [DYT9]), atypical childhood absence epilepsy, myoclonic astatic epilepsy, and paroxysmal non-epileptic findings including intermittent ataxia, choreoathetosis, dystonia, and alternating hemiplegia. The classic phenotype is characterized by infantile-onset seizures, delayed neurologic development, acquired microcephaly, and complex movement disorders. Seizures in classic early-onset Glut1 DS begin before age six months. Several seizure types occur: generalized tonic or clonic, focal, myoclonic, atypical absence, atonic, and unclassified. In some infants, apneic episodes and abnormal episodic eye-head movements similar to opsoclonus may precede the onset of seizures. The frequency, severity, and type of seizures vary among affected individuals and are not related to disease severity. Cognitive impairment, ranging from learning disabilities to severe intellectual disability, is typical. The complex movement disorder, characterized by ataxia, dystonia, and chorea, may occur in any combination and may be continuous, paroxysmal, or continual with fluctuations in severity influenced by environmental factors such as fasting or with infectious stress. Symptoms often improve substantially when a ketogenic diet is started.|GeneReviews|N|
C1847507|Repeated episodes of sudden-onset and transient lethargy.|HPO|N|
C1847515|Sudden-onset episode of abnormal, involuntary eye movements.|HPO|N|
C1847521|Hemifacial myohyperplasia (HFMH) is a rare cause of facial asymmetry exclusively involving facial muscles (summary by Bayard et al., 2023).|OMIM|N|
C1847522|A rare genetic syndromic intellectual disability disorder with characteristics of mild to profound intellectual disability, delayed speech, obesity, ocular anomalies (blepharophimosis, blepharoptosis, hyperopic astigmatism, decreased visual acuity, strabismus, abducens nerve palsy, and/or accommodative esotropia), and dermal manifestations, such as chronic atopic dermatitis. Associated craniofacial dysmorphism includes macrocephaly, maxillary hypoplasia, mandibular prognathism and crowding of teeth.|SNOMEDCT_US|N|
C1847524|A form of astigmatism in which one meridian is hyperopic while the one at a right angle to it has no refractive error.|HPO|N|
C1847532|A rare genetic neuromuscular disease with characteristics of a progressive muscle weakness starting in the anterior tibial muscles, later involving lower and upper limb muscles, associated with an increased serum creatine kinase levels and absence of dysferlin on muscle biopsy. There is evidence the disease is caused by homozygous mutation in the gene encoding dysferlin (DYSF) on chromosome 2p13. Patients become wheelchair dependent.|SNOMEDCT_US|N|
C1847554|Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). The signs and symptoms of this condition are caused by abnormal cilia and flagella. Cilia are microscopic, finger-like projections that stick out from the surface of cells. They are found in the linings of the airway, the reproductive system, and other organs and tissues. Flagella are tail-like structures, similar to cilia, that propel sperm cells forward.\n\nIn the respiratory tract, cilia move back and forth in a coordinated way to move mucus towards the throat. This movement of mucus helps to eliminate fluid, bacteria, and particles from the lungs. Most babies with primary ciliary dyskinesia experience breathing problems at birth, which suggests that cilia play an important role in clearing fetal fluid from the lungs. Beginning in early childhood, affected individuals develop frequent respiratory tract infections. Without properly functioning cilia in the airway, bacteria remain in the respiratory tract and cause infection. People with primary ciliary dyskinesia also have year-round nasal congestion and a chronic cough. Chronic respiratory tract infections can result in a condition called bronchiectasis, which damages the passages, called bronchi, leading from the windpipe to the lungs and can cause life-threatening breathing problems.\n\nSome individuals with primary ciliary dyskinesia have abnormally placed organs within their chest and abdomen. These abnormalities arise early in embryonic development when the differences between the left and right sides of the body are established. About 50 percent of people with primary ciliary dyskinesia have a mirror-image reversal of their internal organs (situs inversus totalis). For example, in these individuals the heart is on the right side of the body instead of on the left. Situs inversus totalis does not cause any apparent health problems. When someone with primary ciliary dyskinesia has situs inversus totalis, they are often said to have Kartagener syndrome.\n\nApproximately 12 percent of people with primary ciliary dyskinesia have a condition known as heterotaxy syndrome or situs ambiguus, which is characterized by abnormalities of the heart, liver, intestines, or spleen. These organs may be structurally abnormal or improperly positioned. In addition, affected individuals may lack a spleen (asplenia) or have multiple spleens (polysplenia). Heterotaxy syndrome results from problems establishing the left and right sides of the body during embryonic development. The severity of heterotaxy varies widely among affected individuals.\n\nPrimary ciliary dyskinesia can also lead to infertility. Vigorous movements of the flagella are necessary to propel the sperm cells forward to the female egg cell. Because their sperm do not move properly, males with primary ciliary dyskinesia are usually unable to father children. Infertility occurs in some affected females and is likely due to abnormal cilia in the fallopian tubes.\n\nAnother feature of primary ciliary dyskinesia is recurrent ear infections (otitis media), especially in young children. Otitis media can lead to permanent hearing loss if untreated. The ear infections are likely related to abnormal cilia within the inner ear.\n\nRarely, individuals with primary ciliary dyskinesia have an accumulation of fluid in the brain (hydrocephalus), likely due to abnormal cilia in the brain.|MedlinePlus Genetics|N|
C1847555|Congenital hyperinsulinism is a condition that causes individuals to have abnormally high levels of insulin. Insulin is a hormone that helps control levels of blood glucose, also called blood sugar. People with this condition have frequent episodes of low blood glucose (hypoglycemia). In infants and young children, these episodes are characterized by a lack of energy (lethargy), irritability, or difficulty feeding. Repeated episodes of low blood glucose increase the risk for serious complications such as breathing difficulties, seizures, intellectual disability, vision loss, brain damage, and coma.\n\nThe severity of congenital hyperinsulinism varies widely among affected individuals, even among members of the same family. About 60 percent of infants with this condition experience a hypoglycemic episode within the first month of life. Other affected children develop hypoglycemia by early childhood. Unlike typical episodes of hypoglycemia, which occur most often after periods without food (fasting) or after exercising, episodes of hypoglycemia in people with congenital hyperinsulinism can also occur after eating.|MedlinePlus Genetics|N|
C1847572|Seckel syndrome is a rare autosomal recessive disorder characterized by growth retardation, microcephaly with mental retardation, and a characteristic facial appearance (Borglum et al., 2001).
For a general phenotypic description and a discussion of genetic heterogeneity of Seckel syndrome, see SCKL1 (210600).|OMIM|N|
C1847584|An abnormal reduction in sensation in the distal portions of the extremities.|HPO|N|
C1847593|Recessive multiple epiphyseal dysplasia (EDM4/rMED) is characterized by joint pain (usually in the hips or knees); malformations of hands, feet, and knees; and scoliosis. Approximately 50% of affected individuals have an abnormal finding at birth, e.g., clubfoot, clinodactyly, or (rarely) cystic ear swelling. Onset of articular pain is variable but usually occurs in late childhood. Stature is usually within the normal range prior to puberty; in adulthood, stature is only slightly diminished and ranges from 150 to 180 cm. Functional disability is mild.|GeneReviews|N|
C1847604|Van der Woude syndrome (VWS) is a dominantly inherited developmental disorder characterized by pits and/or sinuses of the lower lip, and cleft lip and/or cleft palate (CL/P, CP). It is the most common cleft syndrome.
For a discussion of genetic heterogeneity of van der Woude syndrome, see VWS1 (119300).|OMIM|N|
C1847605|Specific language impairment (SLI) is diagnosed in children who exhibit significant language deficits despite adequate educational opportunity and normal nonverbal intelligence. SLI2 represents a locus influencing language-related traits on chromosome 19q (SLI Consortium, 2002, SLI Consortium, 2004).
For a phenotypic description and a discussion of genetic heterogeneity of specific language impairment, see SLI1 (602081).|OMIM|N|
C1847609|Impaired ability to repeat non-word sounds. The test for nonword repetition involves the repetition of nonsensical words of increasing length and complexity and is regarded as a measure of phonological (speech sound) processing and short-term memory|HPO|N|
C1847614|Specific language impairment (SLI) is a common developmental disorder characterized by difficulty in language acquisition despite otherwise normal development and in the absence of any obvious explanatory factors (summary by Newbury et al., 2009).
Genetic Heterogeneity of Specific Language Impairment
Multiple loci for specific language impairment have been mapped, including SLI1 on chromosome 16q; SLI2 (606712) on chromosome 19q; SLI3 (607134) on chromosome 13q21; SLI4 (612514) on chromosome 7q35-36; and SLI5 (615432), caused by mutation in the TM4SF20 gene (615404) on chromosome 2q36.|OMIM|N|
C1847622|Split-hand/split-foot malformation (SHFM) is a limb malformation involving the central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals. Some patients with SHFM5 have been found to have mental retardation, ectodermal and craniofacial findings, and orofacial clefting (Elliott and Evans, 2006).
For additional phenotypic information and a discussion of genetic heterogeneity in this disorder, see SHFM1 (183600).|OMIM|N|
C1847626|An autosomal dominant condition caused by mutations in the TMC1 gene, encoding transmembrane channel-like protein 1. It is characterized by bilateral progressive hearing loss.|NCI|N|
C1847627|A rare paroxysmal movement disorder with onset in childhood or adolescence. The disease has characteristics of paroxysmal choreiform, dystonic, and myoclonic movements involving the limbs (mostly distal upper limbs), neck and/or face, which can progressively increase in both frequency and severity until they become nearly constant. Patients may also present with delayed motor milestones, perioral and periorbital dyskinesias, dysarthria, hypotonia, and weakness.|SNOMEDCT_US|N|
C1847640|Kufor-Rakeb syndrome is a rare autosomal recessive form of juvenile-onset atypical Parkinson disease (PARK9) associated with supranuclear gaze palsy, spasticity, and dementia. Some patients have neuroradiologic evidence of iron deposition in the basal ganglia, indicating that the pathogenesis of PARK9 can be considered among the syndromes of neurodegeneration with brain iron accumulation (NBIA; see 234200) (summary by Bruggemann et al., 2010).
For a phenotypic description and a discussion of genetic heterogeneity of Parkinson disease (PD), see 168600.
Biallelic mutation in the ATP13A2 gene also causes autosomal recessive spastic paraplegia-78 (SPG78; 617225), an adult-onset neurodegenerative disorder with overlapping features. Patients with SPG78 have later onset and prominent spasticity, but rarely parkinsonism. Loss of ATP13A2 function results in a multidimensional spectrum of neurologic features reflecting various regions of the brain and nervous system, including cortical, pyramidal, extrapyramidal, brainstem, cerebellar, and peripheral (summary by Estrada-Cuzcano et al., 2017).|OMIM|N|
C1847667|Dilated cardiomyopathy, a disorder characterized by cardiac dilation and reduced systolic function, represents an outcome of a heterogeneous group of inherited and acquired disorders. For background and phenotypic information on dilated cardiomyopathy, see CMD1A (115200).|OMIM|N|
C1847691|An inflammatory bowel disease that has material basis in variation in the chromosome region 14q11-q12.|MONDO|N|
C1847692|An inflammatory bowel disease that has material basis in variation in the chromosome region 19p13.|MONDO|N|
C1847719|An inflammatory bowel disease that has material basis in variation in the chromosome region 16p.|MONDO|N|
C1847720|People with hypermethioninemia often do not show any symptoms. Some individuals with hypermethioninemia exhibit intellectual disability and other neurological problems; delays in motor skills such as standing or walking; sluggishness; muscle weakness; liver problems; unusual facial features; and their breath, sweat, or urine may have a smell resembling boiled cabbage.\n\nHypermethioninemia can occur with other metabolic disorders, such as homocystinuria, tyrosinemia, and galactosemia, which also involve the faulty breakdown of particular molecules. It can also result from liver disease or excessive dietary intake of methionine from consuming large amounts of protein or a methionine-enriched infant formula. The condition is called primary hypermethioninemia when it is not associated with other metabolic disorders or excess methionine in the diet.\n\nHypermethioninemia is an excess of a particular protein building block (amino acid), called methionine, in the blood. This condition can occur when methionine is not broken down (metabolized) properly in the body.|MedlinePlus Genetics|N|
C1847722|Waardenburg syndrome type II (WS2) is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes; congenital sensorineural hearing loss; and the absence of 'dystopia canthorum,' the lateral displacement of the inner canthus of each eye, which is seen in some other forms of WS (Selicorni et al., 2002). WS type 2C (WS2C) maps to chromosome 8p. Waardenburg syndrome type 2 is genetically heterogeneous (see WS2A; 193510).
For a description of other clinical variants of Waardenburg syndrome, see WS1 (193500), WS3 (148820), and WS4 (277580).|OMIM|N|
C1847723|Uveal melanoma (see 155720) is the most common primary intraocular malignancy. Metastases arise in more than 30% of patients, usually to the liver, with a poor prognosis (median survival of 10 months) (summary by Derrien et al., 2021). Somatic monosomy 3, which is an unusual finding in most tumors, is present in approximately 50% of uveal melanomas and is significantly correlated with metastatic disease (summary by Tschentscher et al., 2001). Mutation in the BAP1 gene is known to confer susceptibility to this specific disease. It has been estimated that about 22% of cases of familial uveal melanoma are due to BAP1 mutations. Conversely, uveal melanoma has been reported in about 31% of BAP1 mutation carriers, making it one of the most common manifestations of TPDS1 (Rai et al., 2016; Rai et al., 2017).
For a discussion of genetic heterogeneity of susceptibility to uveal melanoma, see UVM1 (606660), caused by mutation in the MBD4 gene (603574) on chromosome 3q21.|OMIM|N|
C1847724|Uveal melanoma (see 155720) is the most common primary intraocular malignancy. Metastases arise in more than 30% of patients, usually to the liver, with a poor prognosis (median survival of 10 months). Somatic monosomy 3, which is an unusual finding in most tumors, is present in approximately 50% of uveal melanomas and is significantly correlated with metastatic disease (summary by Tschentscher et al., 2001; Derrien et al., 2021). Treatment with programmed cell death protein-1 inhibitors may result in clinical improvement (Rodrigues et al., 2018).|OMIM|N|
C1847725|Spinocerebellar ataxia type 15 (SCA15) is characterized by slowly progressive gait and limb ataxia, often in combination with ataxic dysarthria, titubation, upper limb postural tremor, mild hyperreflexia, gaze-evoked nystagmus, and impaired vestibuloocular reflex gain. Onset is between ages seven and 72 years, usually with gait ataxia but sometimes with tremor. Affected individuals remain ambulatory for ten to 54 years after symptom onset. Mild dysphagia usually after two or more decades of symptoms has been observed in members of multiple affected families and movement-induced oscillopsia has been described in one member of an affected family.|GeneReviews|N|
C1847735|Amyotrophic lateral sclerosis-3 (ALS3) is a neurodegenerative disorder characterized by the death of motor neurons in the cortex, brainstem, and spinal cord, resulting in progressive muscle weakness and atrophy and death from respiratory failure, usually within 3 to 5 years of symptom onset (Brown, 1995).
For a phenotypic description and a discussion of genetic heterogeneity of amyotrophic lateral sclerosis, see ALS1 (105400).|OMIM|N|
C1847758|High density lipoproteins (HDLs) are antiatherogenic lipoproteins that have a major role in transporting cholesterol from peripheral tissues to the liver, where it is removed. Epidemiologic studies show that low levels of high density lipoprotein cholesterol (HDLC; see 604091) are associated with an increased risk of coronary heart disease and an increased mortality rate. HDLC levels are influenced by several genetic and nongenetic factors. Nongenetic factors include smoking, which decreases the HDLC level. Exercise and alcohol increase HDLC levels. Decreased HDLC is often associated with other coronary heart disease risk factors such as obesity, hyperinsulinemia and insulin resistance, hypertriglyceridemia, and hypertension.
Genetic Heterogeneity of High Density Lipoprotein Cholesterol Level Quantitative Trait Loci
See also HDLCQ2 (607053), mapped to 8q23; HDLCQ3 (607687), mapped to 16q24; HDLCQ4 (610239), mapped to 4q32; HDLCQ5 (610761), mapped to 3q24-q26; HDLCQ6 (610762), mapped to 12q24; HDLCQ7 (618979), caused by variation in the EDN1 gene (131240) on 6p24 (603570); HDLCQ10 (143470), caused by mutation in the CETP gene (118470) on 16q13; HDLCQ11 (238600), caused by mutation in the LPL gene (609708) on 8p21; HDLCQ12 (612797), caused by mutation in the LIPC gene (151670) on 15q21; and HDLCQ14 (605201), mapped to 11q23.
A high density lipoprotein cholesterol level quantitative trait locus, formerly designated HDLCQ9, was thought to be due to a variant in the PLTP gene, but that variant has been reclassified as a polymorphism (172425.0001).
A high density lipoprotein cholesterol level quantitative trait locus, formerly designated HDLCQ8, was thought to be due to a variant in the VNN1 gene, but that variant has been reclassified as a polymorphism (603570.0001).
A high density lipoprotein cholesterol level quantitative trait locus, formerly designated HDLCQ13, was thought to be due to a variant in the ABCA1 gene, but that variant has been reclassified as a polymorphism (600046.0024).|OMIM|N|
C1847759|MDDGB5 is an autosomal recessive congenital muscular dystrophy with impaired intellectual development and structural brain abnormalities (Brockington et al., 2001). It is part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1; 128239), collectively known as  'dystroglycanopathies' (Mercuri et al., 2006).
For a discussion of genetic heterogeneity of congenital muscular dystrophy-dystroglycanopathy type B, see MDDGB1 (613155).|OMIM|N|
C1847766|Amyotrophy affecting the muscles of the shoulder girdle.|HPO|N|
C1847800|Waardenburg syndrome type I (WS1) is an auditory-pigmentary disorder comprising congenital sensorineural hearing loss and pigmentary disturbances of the iris, hair, and skin along with dystopia canthorum (lateral displacement of the inner canthi). The hearing loss in WS1, observed in approximately 60% of affected individuals, is congenital, typically non-progressive, either unilateral or bilateral, and sensorineural. Most commonly, hearing loss in WS1 is bilateral and profound (>100 dB). The majority of individuals with WS1 have either a white forelock or early graying of the scalp hair before age 30 years. The classic white forelock observed in approximately 45% of individuals is the most common hair pigmentation anomaly seen in WS1. Affected individuals may have complete heterochromia iridium, partial/segmental heterochromia, or hypoplastic or brilliant blue irides. Congenital leukoderma is frequently seen on the face, trunk, or limbs.|GeneReviews|N|
C1847823|A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy with symmetric weakness primarily occurring in the lower limbs and reaching the arms only after 5 to 10 years, occasional and predominantly distal sensory loss and reduced tendon reflexes. Presents with gait anomaly between the first and sixth decade and early onset is generally associated to a more severe phenotype that may include foot drop.|SNOMEDCT_US|N|
C1847827|LIG4 syndrome is an autosomal recessive severe combined immunodeficiency with features of radiosensitivity, chromosomal instability, pancytopenia, and developmental and growth delay. Leukemia and dysmorphic facial features have been reported in some patients (summary by van der Burg et al., 2006).|OMIM|N|
C1847835|Generalized vitiligo is an autoimmune disease characterized by melanocyte loss, which results in patchy depigmentation of skin and hair, and is associated with an elevated risk of other autoimmune diseases. It is a genetically complex disorder involving multiple susceptibility genes and unknown environmental triggers. Patients with generalized vitiligo have elevated frequencies of other autoimmune diseases, suggesting that these diseases involve shared genetic components (summary by Jin et al., 2010).
Genetic Heterogeneity of Vitiligo-Associated Multiple Autoimmune Disease Susceptibility
Additional forms of vitiligo-associated multiple autoimmune disease susceptibility have been mapped to chromosomes 1p31 (VAMAS2, 607836, associated with mutation in the FOXD3 gene, 611539), 7 (VAMAS3; 608391), 8 (VAMAS4; 608392), 4 (VAMAS5; 609400), and 6p21.3 (VAMAS6; 193200).|OMIM|N|
C1847836|Oculocutaneous albinism type 4 (OCA4) is characterized by hypopigmentation of the hair and skin plus the characteristic ocular changes found in all other types of albinism, including: nystagmus; reduced iris pigment with iris translucency; reduced retinal pigment with visualization of the choroidal blood vessels on ophthalmoscopic examination; foveal hypoplasia associated with reduction in visual acuity; and misrouting of the optic nerves at the chiasm associated with alternating strabismus, reduced stereoscopic vision, and an altered visual evoked potential (VEP). Individuals with OCA4 are usually recognized within the first year of life because of hypopigmentation of the hair and skin and the ocular features of nystagmus and strabismus. Vision is likely to be stable after early childhood. The amount of cutaneous pigmentation in OCA4 ranges from minimal to near normal. Newborns with OCA4 usually have some pigment in their hair, with color ranging from silvery white to light yellow. Hair color may darken with time, but does not vary significantly from childhood to adulthood.|GeneReviews|N|
C1847839|A very rare form of hereditary episodic ataxia with characteristics of vestibular ataxia, vertigo, tinnitus and interictal myokymia.|SNOMEDCT_US|N|
C1847843|A very rare form of hereditary episodic ataxia with characteristics of late-onset episodic ataxia, recurrent attacks of vertigo and diplopia.|SNOMEDCT_US|N|
C1847865|Autosomal recessive form of craniosynostosis.|MONDO|N|
C1847868|An increased concentration of all types of amino acid in the urine.|HPO|N|
C1847874|PHACE is an acronym for a neurocutaneous syndrome encompassing the following features: posterior fossa brain malformations, hemangiomas of the face (large or complex), arterial anomalies, cardiac anomalies, and eye abnormalities. The association is referred to as PHACES when ventral developmental defects, such as sternal clefting or supraumbilical raphe, are present (summary by Bracken et al., 2011).|OMIM|N|
C1847878|A sternal pit is a small indentation or dimple in the skin overlying the sternum of the chest. In some cases, the skin defect can be linear, extending several inches over the sternum.|HPO|N|
C1847879|A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation.|HPO|N|
C1847884|Hemangioma is a benign tumor of the vascular endothelial cells. This term refers to facial hemangiomas that have a plaque-like morphology.|HPO|N|
C1847896|Charcot-Marie-Tooth disease, dominant intermediate-A (CMTDIA) is an autosomal dominant peripheral neuropathy characterized by onset of symptoms in the first or second decades of life. Affected individuals have difficulty walking with muscle cramps of the lower limbs; the motor symptoms may be worsened by cold. The disorder is slowly progressive, eventually involving all 4 limbs, but patients remain ambulatory. After age 40, patients develop more severe features, including distal muscle weakness and atrophy, pes cavus, areflexia, and distal sensory loss. Electrophysiologic studies yield nerve conduction velocities with 'intermediate' values between demyelinating and axonal neuropathy (see below). One such family has been reported (Rossi et al., 1985).|OMIM|N|
C1847902|Charcot-Marie-Tooth disease is a clinically and genetically heterogeneous disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms.
Classification
CMT neuropathy is subdivided into CMT1 (see 118200) and CMT2 (see 118210) types on the basis of electrophysiologic and neuropathologic criteria. CMT1, or hereditary motor and sensory neuropathy type I (HMSN I), is a demyelinating neuropathy, whereas CMT2, or HMSN II, is an axonal neuropathy. Most patients with CMT are classified as having CMT1 or CMT2 by use of a cut-off value of 38 m/s for the motor median nerve conduction velocity (NCV). However, in some families with CMT, patients have motor median NCVs ranging from 25 to 45 m/s. Families of this type were reported by Salisachs (1974) and Davis et al. (1978). Davis et al. (1978) proposed that this form be designated 'intermediate' CMT.
Claeys et al. (2009) stated that some CMT families may have an even broader range of NCV than 25 to 45 m/s, with the lowest levels around 25 and the highest levels within the normal range (50+ m/s). They also suggested that the term 'intermediate' should not be used to describe a single NCV value, but rather the CMT subtype at the level of the family (e.g., in families with a range or combinations of NCV values).
Berciano et al. (2017) provided a detailed review of the different forms of intermediate CMT, noting that diagnoses may be controversial because of variable classification issues. The authors presented an algorithm for the interpretation of electrophysiologic studies in CMT, and suggested that nerve conduction studies should be conducted on the upper arm (axilla to elbow). They noted that distal axonal degeneration can result in secondary myelination defects, which may cause significantly decreased motor NCV and CMAP values that may be misinterpreted.
Genetic Heterogeneity of Autosomal Dominant Intermediate CMT
In addition to CMTDIB, which is caused by mutation in the DNM2 gene, other forms of dominant intermediate CMT include CMTDIA (620378), mapped to chromosome 10q24-q25; CMTDIC (608323), caused by mutation in the YARS gene (603623) on chromosome 1p35; CMTDID (607791), caused by mutation in the MPZ gene (159440) on chromosome 1q22; CMTDIE with focal segmental glomerulosclerosis (CMTDIE; 614455), caused by mutation in the INF2 gene (610982) on chromosome 14q32; CMTDIF (615185), caused by mutation in the GNB4 gene (610863) on chromosome 3q26; and CMTDIG (617882), caused by mutation in the NEFL gene (162280) on chromosome 8p21.|OMIM|N|
C1847906|Repeated episodes of segmental demyelination and remyelination lead to the accumulation of supernumerary Schwann cells around axons, which is referred to as onion bulb formation. This finding affects peripheral nerves.|HPO|N|
C1847972|An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 15q25-q26.|MONDO|N|
C1847973|Persistent polyclonal B-cell lymphocytosis (PPBL) is characterized by chronic, stable, persistent, and polyclonal lymphocytosis, the presence of binucleated lymphocytes in the peripheral blood, and a polyclonal increase in serum IgM. It is significantly associated with cigarette smoking (summary by Cornet et al., 2009).|OMIM|N|
C1847987|Huntington disease-like 2 (HDL2) typically presents in midlife with a relentless progressive triad of movement, emotional, and cognitive abnormalities which lead to death within ten to 20 years. HDL2 cannot be differentiated from Huntington disease clinically. Neurologic abnormalities include chorea, hypokinesia (rigidity, bradykinesia), dysarthria, and hyperreflexia in the later stages of the disease. There is a strong correlation between the duration of the disease and the progression of the motor and cognitive disorder.|GeneReviews|N|
C1848029|The clinical features of TNXB-related classical-like Ehlers-Danlos syndrome (clEDS) strongly resemble those seen in classic EDS (cEDS). Affected individuals have generalized joint hypermobility, hyperextensible skin, and easy bruising, but do not have atrophic scarring, as is seen in cEDS. There are also several other distinguishing clinical findings including anomalies of feet and hands, edema in the legs in the absence of cardiac failure, mild proximal and distal muscle weakness, and axonal polyneuropathy. Vaginal, uterine, and/or rectal prolapse can also occur. Tissue fragility with resulting rupture of the trachea, esophagus, and small and large bowel has been reported. Vascular fragility causing a major event occurs in a minority of individuals. Significant variability in the severity of musculoskeletal symptoms and their effect on day-to-day function between unrelated affected individuals as well as among affected individuals in the same family has been reported. Fatigue has been reported in more than half of affected individuals. The severity of symptoms in middle-aged individuals can range from joint hypermobility without complications to being wheelchair-bound as a result of severe and painful foot deformities and fatigue.|GeneReviews|N|
C1848030|A rare, genetic disorder of amino acid absorption and transport, characterized by generalized hypotonia at birth, neonatal/infantile failure to thrive (followed by hyperphagia and rapid weight gain in late childhood), cystinuria type 1, nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism. Dysmorphic features mainly include dolichocephaly and ptosis. Nephrolithiasis occurs at variable ages.|ORDO|N|
C1848087|X-linked intellectual developmental disorder-50 (XLID50) is a neurodevelopmental disorder characterized by impaired intellectual development accompanied variably by short stature, autistic features, and brain imaging anomalies. Seizures are not present. Carrier females may be affected.
Hemizygous mutation in the SYN1 gene also causes X-linked epilepsy with variable learning disabilities and behavior disorders (EPILX1; 300491), which shows overlapping features.|OMIM|N|
C1848097|A rare genetic primary bone dysplasia disorder with characteristics of disproportionate short stature with mesomelic short limbs, leg bowing, lumbar lordosis, brachydactyly, joint laxity and a waddling gait. Radiographs show platyspondyly with central protrusion of anterior vertebral bodies, kyphotic angulation and very short long bones with dysplastic epiphyses and flared, irregular, cupped metaphyses.|SNOMEDCT_US|N|
C1848103|Reduced side to side width of the pelvis.|HPO|N|
C1848108|Increased length of the ulna.|HPO|N|
C1848109|Disproportionately long fibulae.|HPO|N|
C1848137|Developmental and epileptic encephalopathy-9 (DEE9) is an X-linked disorder characterized by seizure onset in infancy and mild to severe intellectual impairment. Autistic and psychiatric features have been reported in some individuals. The disorder affects heterozygous females only; transmitting males are unaffected (summary by Jamal et al., 2010).
For a general phenotypic description and a discussion of genetic heterogeneity of developmental and epileptic encephalopathy, see 308350.|OMIM|N|
C1848138|In mammals, the potential imbalance of gene expression for the two X chromosomes in females is resolved by inactivating one X in all somatic tissues. In the embryo proper, the process of X inactivation is considered to be random between the maternal and paternal chromosomes. Thus, most females have mosaic expression of maternal and paternal alleles of X chromosome loci, with a contribution of about 50% from each chromosome. However, some females show a skewed ratio of X inactivation, which can be due to negative or positive selection, or to an underlying primary genetic process. Belmont (1996) observed familial clustering of females with highly skewed patterns of X inactivation and reviewed the genetic control of X inactivation.
Genetic Heterogeneity of Skewed X Inactivation
See also SXI2 (300179) for a locus that maps to chromosome Xq25-q26.|OMIM|N|
C1848144|A syndrome with characteristics of immune deficiency and neurological disorders in females and neonatal death in males. The syndrome has been described in only one family with nine affected individuals (five males and four females) spanning two generations. Symptomatic females present slowly progressive proximal muscle weakness, leg hyperreflexia, pes cavus, increased muscle tone in the legs, poor bladder function, static reduced night vision and frequent sinopulmonary infections associated with IgG2 deficiency. Males present with low birth weight and severe hypotonia that leads to death in the neonatal period. The gene locus has been mapped to Xq26-qter.|SNOMEDCT_US|N|
C1848172|X-linked congenital stationary night blindness (CSNB) is characterized by non-progressive retinal findings of reduced visual acuity ranging from 20/30 to 20/200; defective dark adaptation; refractive error, most typically myopia ranging from low (-0.25 diopters [D] to -4.75 D) to high (=-10.00 D) but occasionally hyperopia; nystagmus; strabismus; normal color vision; and normal fundus examination. Characteristic ERG findings can help distinguish between complete X-linked CSNB and incomplete X-linked CSNB.|GeneReviews|N|
C1848178|The presence of female external genitalia in a person with a male karyotype.|HPO|N|
C1848182|The vagina ends in a blind pouch or sac rather than being connected to the internal genitalia.|HPO|N|
C1848186|A gonadal sex cord-stromal tumor with malignant characteristics. It includes the poorly differentiated ovarian Sertoli-Leydig cell tumor, malignant ovarian granulosa cell tumor, malignant ovarian steroid cell tumor, and malignant ovarian thecoma.|NCI|N|
C1848192|Absence of facial hair.|HPO|N|
C1848201|Subcortical band heterotopia is a condition in which nerve cells (neurons) do not move (migrate) to their proper locations in the fetal brain during early development. (Heterotopia means "out of place.") Normally, the neurons that make up the outer surface of the brain (cerebral cortex) are distributed in a well-organized and multi-layered way. In people with subcortical band heterotopia, some neurons that should be part of the cerebral cortex do not reach it. These neurons stop their migration process in areas of the brain where they are not supposed to be and form band-like clusters of tissue. Since these bands are located beneath the cerebral cortex, they are said to be subcortical. In most cases, the bands are symmetric, which means they occur in the same places on the right and left sides of the brain.\n\nThe abnormal brain development causes neurological problems in people with subcortical band heterotopia. The signs and symptoms of the condition depend on the size of the bands and the lack of development of the cerebral cortex. The signs and symptoms can vary from severe intellectual disability and seizures that begin early in life and affect both sides of the brain (generalized seizures) to normal intelligence with seizures occurring later in life and affecting only one side of the brain (focal seizures). Some affected individuals also have weak muscle tone (hypotonia), loss of fine motor skills such as using utensils, or behavioral problems. Subcortical band heterotopia is typically found when brain imaging is done following the onset of seizures, usually in adolescence or early adulthood.|MedlinePlus Genetics|N|
C1848204|X-linked deafness-4 is a nonsyndromic form of progressive hearing loss with postlingual onset. Affected males show earlier onset of hearing loss than affected females (summary by del Castillo et al., 1996).|OMIM|N|
C1848213|FLNA deficiency is associated with a phenotypic spectrum that includes FLNA-related periventricular nodular heterotopia (Huttenlocher syndrome), congenital heart disease (patent ductus arteriosus, atrial and ventricular septal defects), valvular dystrophy, dilation and rupture of the thoracic aortic, pulmonary disease (pulmonary hypertension, alveolar hypoplasia, emphysema, asthma, chronic bronchitis), gastrointestinal dysmotility and obstruction, joint hypermobility, and macrothrombocytopenia.|GeneReviews|N|
C1848336|Dent disease, an X-linked disorder of proximal renal tubular dysfunction, is characterized by low molecular weight (LMW) proteinuria, hypercalciuria, and at least one additional finding including nephrocalcinosis, nephrolithiasis, hematuria, hypophosphatemia, chronic kidney disease (CKD), and evidence of X-linked inheritance. Males younger than age ten years may manifest only LMW proteinuria and/or hypercalciuria, which are usually asymptomatic. Thirty to 80% of affected males develop end-stage renal disease (ESRD) between ages 30 and 50 years; in some instances ESRD does not develop until the sixth decade of life or later. The disease may also be accompanied by rickets or osteomalacia, growth restriction, and short stature. Disease severity can vary within the same family. Males with Dent disease 2 (caused by pathogenic variants in OCRL) may also have mild intellectual disability, cataracts, and/or elevated muscle enzymes. Due to random X-chromosome inactivation, some female carriers may manifest hypercalciuria and, rarely, renal calculi and moderate LMW proteinuria. Females rarely develop CKD.|GeneReviews|N|
C1848392|CHIME syndrome, also known as Zunich neuroectodermal syndrome, is an extremely rare autosomal recessive multisystem disorder clinically characterized by colobomas, congenital heart defects, migratory ichthyosiform dermatosis, mental retardation, and ear anomalies (CHIME). Other clinical features include distinctive facial features, abnormal growth, genitourinary abnormalities, seizures, and feeding difficulties (summary by Ng et al., 2012). The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis.
For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (610293).|OMIM|N|
C1848395|The term large for gestational age applies to babies whose birth weight lies above the 90th percentile for that gestational age.|HPO|N|
C1848410|Xeroderma pigmentosum (XP) is characterized by: Acute sun sensitivity (severe sunburn with blistering, persistent erythema on minimal sun exposure) with marked freckle-like pigmentation of the face before age two years; Sunlight-induced ocular involvement (photophobia, severe keratitis, atrophy of the skin of the lids, ocular surface neoplasms); Greatly increased risk of sunlight-induced cutaneous neoplasms (basal cell carcinoma, squamous cell carcinoma, melanoma) within the first decade of life. Approximately 25% of affected individuals have neurologic manifestations (acquired microcephaly, diminished or absent deep tendon stretch reflexes, progressive sensorineural hearing loss, progressive cognitive impairment, and ataxia). The most common causes of death are skin cancer, neurologic degeneration, and internal cancer. The median age at death in persons with XP with neurodegeneration (29 years) was found to be younger than that in persons with XP without neurodegeneration (37 years).|GeneReviews|N|
C1848411|Xeroderma pigmentosum (XP) is characterized by: Acute sun sensitivity (severe sunburn with blistering, persistent erythema on minimal sun exposure) with marked freckle-like pigmentation of the face before age two years; Sunlight-induced ocular involvement (photophobia, severe keratitis, atrophy of the skin of the lids, ocular surface neoplasms); Greatly increased risk of sunlight-induced cutaneous neoplasms (basal cell carcinoma, squamous cell carcinoma, melanoma) within the first decade of life. Approximately 25% of affected individuals have neurologic manifestations (acquired microcephaly, diminished or absent deep tendon stretch reflexes, progressive sensorineural hearing loss, progressive cognitive impairment, and ataxia). The most common causes of death are skin cancer, neurologic degeneration, and internal cancer. The median age at death in persons with XP with neurodegeneration (29 years) was found to be younger than that in persons with XP without neurodegeneration (37 years).|GeneReviews|N|
C1848412|Trichothiodystrophy (TTD) is a rare autosomal recessive disorder in which patients have brittle, sulfur-deficient hair that displays a diagnostic alternating light and dark banding pattern, called 'tiger tail banding,' under polarizing microscopy. TTD patients display a wide variety of clinical features, including cutaneous, neurologic, and growth abnormalities. Common additional clinical features are ichthyosis, intellectual/developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections. There are both photosensitive and nonphotosensitive forms of the disorder. TTD patients have not been reported to have a predisposition to cancer (summary by Faghri et al., 2008).
Genetic Heterogeneity of Trichothiodystrophy
Also see TTD2 (616390), caused by mutation in the ERCC3/XPB gene (133510); TTD3 (616395), caused by mutation in the GTF2H5 gene (608780); TTD4 (234050), caused by mutation in the MPLKIP gene (609188); TTD5 (300953), caused by mutation in the RNF113A gene (300951); TTD6 (616943), caused by mutation in the GTF2E2 gene (189964); TTD7 (618546), caused by mutation in the TARS gene (187790); TTD8 (619691), caused by mutation in the AARS1 gene (601065); and TTD9 (619692), caused by mutation in the MARS1 gene (156560).|OMIM|N|
C1848431|The presence of xanthine-containing calculi (stones) in the kidneys.|HPO|N|
C1848435|Autosomal recessive hypotrichosis is a condition that affects hair growth. People with this condition have sparse hair (hypotrichosis) on the scalp beginning in infancy. This hair is usually coarse, dry, and tightly curled (often described as woolly hair). Scalp hair may also be lighter in color than expected and is fragile and easily broken. Affected individuals often cannot grow hair longer than a few inches. The eyebrows, eyelashes, and other body hair may be sparse as well. Over time, the hair problems can remain stable or progress to complete scalp hair loss (alopecia) and a decrease in body hair.\n\nRarely, people with autosomal recessive hypotrichosis have skin problems affecting areas with sparse hair, such as redness (erythema), itchiness (pruritus), or missing patches of skin (erosions) on the scalp. In areas of poor hair growth, they may also develop bumps called hyperkeratotic follicular papules that develop around hair follicles, which are specialized structures in the skin where hair growth occurs.|MedlinePlus Genetics|N|
C1848439|A rare intellectual disability syndrome with manifestations of severe intellectual disability, characteristic facial features (low anterior hairline, upward slanting palpebral fissures, ocular hypertelorism, broad, bulbous nose, large ears with helix incompletely developed, thick lips, and micrognathia) and additional anomalies including peripheral joint contractures, delayed skeletal maturation, bilateral cleft lip and palate, strabismus, terminal hypoplasia of fingers, hypospadias, and bilateral inguinal hernias.|SNOMEDCT_US|N|
C1848446|A partial dislocation of the atlantoaxial joints.|HPO|N|
C1848459|An increased concentration of non ceruloplasmin bound copper in the blood.|HPO|N|
C1848463|A multiple congenital anomalies syndrome with characteristics of poliosis, distinct facial features (epicanthal folds, hypertelorism, posterior rotation of ears, prominent philtrum, high-arched palate) and congenital anomalies/malformations of the eye (blue sclera), cardiopulmonary (atrial septal defect, prominent thoracic and abdominal veins) and skeletal (clinodactyly, syndactyly of the fingers and second and third toes) systems. There have been no further descriptions in the literature since 1980.|SNOMEDCT_US|N|
C1848470|Whistling face syndrome is characterized by an atypical facial appearance with anomalies of the hands and feet. Most cases show autosomal dominant inheritance: see distal arthrogryposis 2A (DA2A; 193700). There are rare reports of presumably autosomal recessive inheritance (summary by Altunhan et al., 2010).|OMIM|N|
C1848473|An abnormality of facial morphology characterized by a small mouth opening and constant contraction of the lips as if the patient were whistling.|HPO|N|
C1848475|Lack of full passive range of motion (restrictions in flexion, extension, or other movements) of the shoulder joint resulting from structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules and/or skin.|HPO|N|
C1848486|Arteriosclerosis occurring at an age that is younger than usual.|HPO|N|
C1848488|Stickler syndrome is a connective tissue disorder that can include ocular findings of myopia, cataract, and retinal detachment; hearing loss that is both conductive and sensorineural; midfacial underdevelopment and cleft palate (either alone or as part of the Robin sequence); and mild spondyloepiphyseal dysplasia and/or precocious arthritis. Variable phenotypic expression of Stickler syndrome occurs both within and among families; interfamilial variability is in part explained by locus and allelic heterogeneity.|GeneReviews|N|
C1848514|Short fourth metatarsal bone.|HPO|N|
C1848519|Waardenburg syndrome type 4 (WS4), also known as Waardenburg-Shah syndrome, is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and Hirschsprung disease (reviews by Read and Newton, 1997 and Pingault et al., 2010). WS type 4A is caused by mutation in the EDNRB gene (131244).
Clinical Variability of Waardenburg Syndrome Types 1-4
Waardenburg syndrome has been classified into 4 main phenotypes. Type I Waardenburg syndrome (WS1; 193500) is characterized by pigmentary abnormalities of the hair, including a white forelock and premature graying; pigmentary changes of the iris, such as heterochromia iridis and brilliant blue eyes; congenital sensorineural hearing loss; and 'dystopia canthorum.' WS type II (WS2) is distinguished from type I by the absence of dystopia canthorum. WS type III (WS3; 148820) has dystopia canthorum and is distinguished by the presence of upper limb abnormalities. WS type 4 has the additional feature of Hirschsprung disease (reviews by Read and Newton, 1997 and Pingault et al., 2010).
Genetic Heterogeneity of Waardenburg Syndrome Type 4
Waardenburg syndrome type 4 is genetically heterogeneous. WS4B (613265) is caused by mutation in the EDN3 gene (131242) on chromosome 20q13, and WS4C (613266) is caused by mutation in the SOX10 gene (602229) on chromosome 22q13.|OMIM|N|
C1848526|TSEN54 pontocerebellar hypoplasia (TSEN54-PCH) comprises three PCH phenotypes (PCH2, 4, and 5) that share characteristic neuroradiologic and neurologic findings. The three PCH phenotypes (which differ mainly in life expectancy) were considered to be distinct entities before their molecular basis was known. PCH2. Children usually succumb before age ten years (those with PCH4 and 5 usually succumb as neonates). Children with PCH2 have generalized clonus, uncoordinated sucking and swallowing, impaired cognitive development, lack of voluntary motor development, cortical blindness, and an increased risk for rhabdomyolysis during severe infections. Epilepsy is present in approximately 50%. PCH4. Neonates often have seizures, multiple joint contractures ("arthrogryposis"), generalized clonus, and central respiratory impairment. PCH5 resembles PCH4 and has been described in one family.|GeneReviews|N|
C1848529|Underdevelopment of the pons.|HPO|N|
C1848533|Ataxia with vitamin E deficiency (AVED) generally manifests in late childhood or early teens between ages five and 15 years. The first symptoms include progressive ataxia, clumsiness of the hands, loss of proprioception, and areflexia. Other features often observed are dysdiadochokinesia, dysarthria, positive Romberg sign, head titubation, decreased visual acuity, and positive Babinski sign. The phenotype and disease severity vary widely among families with different pathogenic variants; age of onset and disease course are more uniform within a given family, but symptoms and disease severity can vary even among sibs.|GeneReviews|N|
C1848534|Deficiency of all vitamin K-dependent clotting factors leads to a bleeding tendency that is usually reversed by oral administration of vitamin K. Acquired forms of the disorder can be caused by intestinal malabsorption of vitamin K. Familial multiple coagulation factor deficiency is rare. Clinical symptoms of the disease include episodes of intracranial hemorrhage in the first weeks of life, sometimes leading to a fatal outcome. The pathomechanism is based on a reduced hepatic gamma-carboxylation of glutamic acid residues of all vitamin K-dependent blood coagulation factors, as well as the anticoagulant factors protein C (612283) and protein S (176880). Posttranslational gamma-carboxylation of proteins enables the calcium-dependent attachment of the proteins to the phospholipid bilayer of membranes, an essential prerequisite for blood coagulation. Vitamin K1 acts as a cofactor for the vitamin K-dependent carboxylase in liver microsomes, GGCX.
Genetic Heterogeneity of Combined Deficiency of Vitamin K-Dependent Clotting Factors
Combined deficiency of vitamin K-dependent clotting factors-2 (VKFCD2; 607473) is caused by mutation in the gene encoding vitamin K epoxide reductase (VKORC1; 608547) on chromosome 16p11.|OMIM|N|
C1848538|Abnormal outward curving (protuberance) of the junction of ribs and costal cartilage.|HPO|N|
C1848552|Disorders of intracellular cobalamin metabolism have a variable phenotype and age of onset that are influenced by the severity and location within the pathway of the defect. The prototype and best understood phenotype is cblC; it is also the most common of these disorders. The age of initial presentation of cblC spans a wide range: In utero with fetal presentation of nonimmune hydrops, cardiomyopathy, and intrauterine growth restriction. Newborns, who can have microcephaly, poor feeding, and encephalopathy. Infants, who can have poor feeding and slow growth, neurologic abnormality, and, rarely, hemolytic uremic syndrome (HUS). Toddlers, who can have poor growth, progressive microcephaly, cytopenias (including megaloblastic anemia), global developmental delay, encephalopathy, and neurologic signs such as hypotonia and seizures. Adolescents and adults, who can have neuropsychiatric symptoms, progressive cognitive decline, thromboembolic complications, and/or subacute combined degeneration of the spinal cord.|GeneReviews|N|
C1848553|Homocystinuria is an inherited disorder in which the body is unable to process certain building blocks of proteins (amino acids) properly. \n\nThe most common form of homocystinuria, called classic homocystinuria, is characterized by tall stature, nearsightedness (myopia), dislocation of the lens at the front of the eye, a higher risk of blood clotting disorders, and brittle bones that are prone to fracture (osteoporosis) or other skeletal abnormalities. Some affected individuals also have developmental delay and learning problems.\n\nThe signs and symptoms of homocystinuria typically develop during childhood, although some mildly affected people may not show signs and symptoms until adulthood.\n\nLess common forms of homocystinuria can cause intellectual disability, slower growth and weight gain (failure to thrive), seizures, and problems with movement. They can also cause and a blood disorder called megaloblastic anemia, which occurs when a person has a low number of red blood cells (anemia), and the remaining red blood cells are larger than normal (megaloblastic).|MedlinePlus Genetics|N|
C1848555|A decreased concentration of methionine in the blood.|HPO|N|
C1848556|The concentration of adenosylcobalam in the blood circulation is below the lower limit of normal. Adenosylcobalamin is one of the active forms of vitamin B12.|HPO|N|
C1848561|Disorders of intracellular cobalamin metabolism have a variable phenotype and age of onset that are influenced by the severity and location within the pathway of the defect. The prototype and best understood phenotype is cblC; it is also the most common of these disorders. The age of initial presentation of cblC spans a wide range: In utero with fetal presentation of nonimmune hydrops, cardiomyopathy, and intrauterine growth restriction. Newborns, who can have microcephaly, poor feeding, and encephalopathy. Infants, who can have poor feeding and slow growth, neurologic abnormality, and, rarely, hemolytic uremic syndrome (HUS). Toddlers, who can have poor growth, progressive microcephaly, cytopenias (including megaloblastic anemia), global developmental delay, encephalopathy, and neurologic signs such as hypotonia and seizures. Adolescents and adults, who can have neuropsychiatric symptoms, progressive cognitive decline, thromboembolic complications, and/or subacute combined degeneration of the spinal cord.|GeneReviews|N|
C1848578|Disorders of intracellular cobalamin metabolism have a variable phenotype and age of onset that are influenced by the severity and location within the pathway of the defect. The prototype and best understood phenotype is cblC; it is also the most common of these disorders. The age of initial presentation of cblC spans a wide range: In utero with fetal presentation of nonimmune hydrops, cardiomyopathy, and intrauterine growth restriction. Newborns, who can have microcephaly, poor feeding, and encephalopathy. Infants, who can have poor feeding and slow growth, neurologic abnormality, and, rarely, hemolytic uremic syndrome (HUS). Toddlers, who can have poor growth, progressive microcephaly, cytopenias (including megaloblastic anemia), global developmental delay, encephalopathy, and neurologic signs such as hypotonia and seizures. Adolescents and adults, who can have neuropsychiatric symptoms, progressive cognitive decline, thromboembolic complications, and/or subacute combined degeneration of the spinal cord.|GeneReviews|N|
C1848579|An abnormality of Krebs cycle metabolism that is characterized by a decreased rate of methylmalonyl-CoA mutase activity.|HPO|N|
C1848580|A reduction in methionine synthase activity.|HPO|N|
C1848586|An extremely rare autosomal recessively inherited neuromuscular disease characterised by ocular manifestations such as ptosis and diplopia followed by chronic diarrhoea, malnutrition and intestinal pseudo-obstruction.|SNOMEDCT_US|N|
C1848587|A rare congenital heart malformation with characteristics of underdevelopment of the right ventricle associated with patent foramen ovale or interauricular communication and normally developed tricuspid and pulmonary valves. Manifests with severe cyanosis, congestive heart failure, and in severe cases, death in early infancy.|SNOMEDCT_US|N|
C1848590|A rare systemic disease characterized by progressive hyalinosis involving capillaries, arterioles and small veins of the digestive tract, kidneys, and retina, associated with idiopathic cerebral calcifications, manifesting with severe diarrhea (with rectal bleeding and malabsorption), nephropathy (with renal failure and systemic hypertension), chorioretinal scarring, and subarachnoid hemorrhage. Poikiloderma and premature greying of the hair may be additionally observed.|ORDO|N|
C1848597|A central Y-shaped metacarpal is the result of a partial fusion of two central metacarpals (i.e., metacarpals 2-4) of the hand, with the two arms of the Y pointing in the distal direction. Central Y-shaped metacarpals may be seen as a result of a central polydactyly with partial fusion of the duplicated metacarpal.|HPO|N|
C1848599|VACTERL describes a constellation of congenital anomalies, including vertebral anomalies, anal atresia, congenital cardiac disease, tracheoesophageal fistula, renal anomalies, radial dysplasia, and other limb defects; see 192350. Cases of familial VACTERL with hydrocephalus (H) have been reported with suggestion of autosomal recessive or X-linked inheritance (see 314390).
Other patients thought to have VACTERL-H, including 2 unrelated infants reported by Porteous et al. (1992), had been found to have Fanconi anemia (see 227650). Porteous et al. (1992) suggested that chromosomal breakage studies should be performed in all cases of VACTERL/VACTERL-H to rule out Fanconi anemia. Alter et al. (2007) noted that a VATER phenotype had been reported in Fanconi anemia of complementation groups A (227650), C (227645), D1 (605724), E (600901), F (603467), and G (614082). X-linked VACTERL-H is also associated with mutations in the FANCB gene (300515).|OMIM|N|
C1848604|Usher syndrome type I (USH1) is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa (RP). Unless fitted with a cochlear implant, individuals do not typically develop speech. RP, a progressive, bilateral, symmetric degeneration of rod and cone functions of the retina, develops in adolescence, resulting in progressively constricted visual fields and impaired visual acuity.|GeneReviews|N|
C1848606|A general descriptive term that describes impaired functioning of the vestibular apparatus that leads to manifestations such as dizziness or postural imbalance|HPO|N|
C1848634|Usher syndrome type II (USH2) is characterized by the following: Congenital, bilateral sensorineural hearing loss that is mild to moderate in the low frequencies and severe to profound in the higher frequencies. Intact or variable vestibular responses. Retinitis pigmentosa (RP); progressive, bilateral, symmetric retinal degeneration that begins with night blindness and constricted visual fields (tunnel vision) and eventually includes decreased central visual acuity; the rate and degree of vision loss vary within and among families.|GeneReviews|N|
C1848650|Ulna hypoplasia - intellectual deficit is a very rare syndrome characterized by mesomelic shortness of the forearms, bilateral clubfeet, aplasia or hypoplasia of all nails and severe psychomotor retardation.|ORDO|N|
C1848651|The Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome (AARRS) is a rare autosomal recessive disorder characterized by severe malformations of upper and lower limbs with severely hypoplastic pelvis and abnormal genitalia. The disorder is believed to represent a defect of dorsoventral patterning and outgrowth of limbs (summary by Kantaputra et al., 2010).|OMIM|N|
C1848652|A herniation of meninges through a congenital bone defect in the skull in the occipital region.|HPO|N|
C1848654|Increased width of ribs|HPO|N|
C1848657|Median longitudinal ear length greater than two SD above the mean determined by the maximal distance from the superior aspect to the inferior aspect of the external ear.|HPO|N|
C1848660|A developmental defect characterized by lack of development of the pubis bone.|HPO|N|
C1848670|Small or missing phalangeal bones of the fingers of the hand.|HPO|N|
C1848671|Absence or underdevelopment of the tarsal bones.|HPO|N|
C1848673|A measured foot length that is more than 2 SD below the mean for a newborn of 27 - 41 weeks gestation, or foot that is less than the 3rd centile for individuals from birth to 16 years of age (objective). Alternatively, a foot that appears disproportionately short (subjective).|HPO|N|
C1848678|Increased relative concentration of 4-hydroxyphenylpyruvic acid in the urine.|HPO|N|
C1848679|Amount of 4-hydroxyphenyllactic acid in the urine, normalized for urine concentration, is above the upper limit of normal.|HPO|N|
C1848680|Increased concentration of 4-hydroxyphenylacetic acid in the urine.|HPO|N|
C1848701|Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage.|HPO|N|
C1848702|An increased concentration of 5-aminolevulinic acid (CHEBI:17549) in the urine.|HPO|N|
C1848736|Muscular atrophy affecting muscles in the distal portions of the extremities.|HPO|N|
C1848743|A rare multiple congenital anomalies/dysmorphic syndrome characterized by trigonobrachycephaly, facial dysmorphism (including narrow forehead, upward-slanting palpebral fissures, bulbous nose with slightly bifid tip, macrostomia with thin upper lip, micrognathia), and various acral anomalies, such as broad thumbs, large toes, bulbous fingertips with short nails, joint laxity of the hands and fifth finger clinodactyly. Short stature, hypotonia and severe psychomotor delay are also associated. There have been no further descriptions in the literature since 1991.|ORDO|N|
C1848745|PNPLA6 disorders span a phenotypic continuum characterized by variable combinations of cerebellar ataxia; upper motor neuron involvement manifesting as spasticity and/or brisk reflexes; chorioretinal dystrophy associated with variable degrees of reduced visual function; and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). The hypogonadotropic hypogonadism occurs either in isolation or as part of anterior hypopituitarism (growth hormone, thyroid hormone, or gonadotropin deficiencies). Common but less frequent features are peripheral neuropathy (usually of axonal type manifesting as reduced distal reflexes, diminished vibratory sensation, and/or distal muscle wasting); hair anomalies (long eyelashes, bushy eyebrows, or scalp alopecia); short stature; and impaired cognitive functioning (learning disabilities in children; deficits in attention, visuospatial abilities, and recall in adults). Some of these features can occur in distinct clusters on the phenotypic continuum: Boucher-Neuhäuser syndrome (cerebellar ataxia, chorioretinal dystrophy, and hypogonadotropic hypogonadism); Gordon Holmes syndrome (cerebellar ataxia, hypogonadotropic hypogonadism, and – to a variable degree – brisk reflexes); Oliver-McFarlane syndrome (trichomegaly, chorioretinal dystrophy, short stature, intellectual disability, and hypopituitarism); Laurence-Moon syndrome; and spastic paraplegia type 39 (SPG39) (upper motor neuron involvement, peripheral neuropathy, and sometimes reduced cognitive functioning and/or cerebellar ataxia).|GeneReviews|N|
C1848769|Overconstriction, or narrowness of the diaphysis and metaphysis of long bones.|HPO|N|
C1848795|Graves disease (GRD) is an autoimmune disorder in which antibodies to the thyrotropin receptor (TSHR; 603372) result in constitutive activation of the receptor and increased levels of thyroid hormone. Wilkin (1990) reviewed endocrine disorders of hormone excess and hormone deficiency resulting from receptor autoimmunity.
Genetic Heterogeneity of Graves Disease
Susceptibility to Graves disease-1 (GRD1) has been mapped to chromosome 14q31. Other susceptibility loci for Graves disease include GRD2 (603388) on chromosome 20q13, GRDX1 (300351) on Xp11, and GRDX2 (see 300351) on Xq21.33-q22.
Graves disease has also been mapped to several loci that confer susceptibility to autoimmune thyroid diseases, including Hashimoto thyroiditis (HT; 140300): AITD1 (608173) on 6p11; AITD2 (608174) on 5q31-q33; AITD3 (608175) on 8q24; AITD4 (608176) on 10q, and AITD5 (601941) on 18q21.|OMIM|N|
C1848805|Approximately 10% of patients with congenital hypothyroidism harbor inborn errors of metabolism in one of the steps for thyroid hormone synthesis in thyrocytes (Vono-Toniolo et al., 2005). Dyshormonogenesis can be caused by recessive defects at any of the steps required for normal thyroid hormone synthesis. In untreated patients thyroid dyshormonogenesis is typically associated with goitrous enlargement of the thyroid secondary to long-term thyrotropin (TSH; see 188540) stimulation.
Park and Chatterjee (2005) reviewed the genetics of primary congenital hypothyroidism, summarizing the different phenotypes associated with known genetic defects and proposing an algorithm for investigating the genetic basis of the disorder.
Genetic Heterogeneity of Thyroid Dyshormonogenesis
Other forms of thyroid hormone dysgenesis include TDH2A (274500), caused by mutation in the thyroid peroxidase gene (TPO; 606765) on 2p25; Pendred syndrome, a form of thyroid hormone dysgenesis associated with deafness (TDH2B; 274600) and caused by mutation in the SLC26A4 gene (605646) on 7q31; TDH3 (274700), caused by mutation in the thyroglobulin gene (TG; 188450) on 8q24; TDH4 (274800), caused by mutation in the iodotyrosine deiodinase gene (IYD; 612025) on 6q25; TDH5 (274900), caused by mutation in the DUOXA2 gene (612772) on 15q21; and TDH6 (607200), caused by mutation in the DUOX2 gene (606759) on 15q21.|OMIM|N|
C1848812|This syndrome has characteristics of intrauterine growth retardation, renal dysgenesis and a unilobed or absent thymus. It has been described in three girls born to a nonconsanguineous couple.|SNOMEDCT_US|N|
C1848813|A rare syndromic renal disorder characterized by renal, neurologic and thyroid disease, associated with thrombocytopenia. There have been no further descriptions in the literature since 1978.|ORDO|N|
C1848814|Thymomas are low-grade epithelial cancers of the thymus. Familial occurrence of thymoma is rare.|OMIM|N|
C1848816|A rare multiple congenital anomalies syndrome characterized by upper limb defects (hypoplastic thumb with hypoplasia of the metacarpal bone and phalanges and delayed bone maturation), developmental delay, central hearing loss, unilateral poorly developed antihelix, bilateral choroid coloboma and growth retardation.|ORDO|N|
C1848818|An exceedingly rare, autosomal recessive immune disease characterized by thumb aplasia, short stature with skeletal abnormalities, and combined immunodeficiency described in three sibships from two possibly related families. The skeletal abnormalities included unfused olecranon and the immunodeficiency manifested with severe chickenpox and chronic candidiasis. No new cases have been reported since 1978.|ORDO|N|
C1848840|Missing radius bone on both sides associated with congenital failure of development.|HPO|N|
C1848850|Naevus flammeus localized in the skin of the forehead.|HPO|N|
C1848861|An increased concentration of threonine in the blood.|HPO|N|
C1848862|Three M syndrome is characterized by severe pre- and postnatal growth deficiency (final height 5-6 SD below the mean; i.e., 120-130 cm), characteristic facies, and normal intelligence. Additional features of three M syndrome include short broad neck, prominent trapezii, deformed sternum, short thorax, square shoulders, winged scapulae, hyperlordosis, short fifth fingers, prominent heels, and loose joints. Males with three M syndrome have hypogonadism and occasionally hypospadias.|GeneReviews|N|
C1848863|An extremely rare primary bone dysplasia disorder characterized by a bell-shaped thorax, disproportionate short stature, pelvic hypoplasia, dislocatable radial heads and elongated distal fibulae. Acetabular spurs and phalangeal cone-shaped epiphyses are not present and osseous manifestations tend to normalize with age. There have been no further descriptions in the literature since 1988.|SNOMEDCT_US|N|
C1848864|An extremely rare primary bone dysplasia syndrome with characteristics of short ribs with a narrow chest and thoracic dysplasia, mild rhizomelic shortening of the limbs, communicating hydrocephalus and developmental delay. There have been no further descriptions in the literature since 1987.|SNOMEDCT_US|N|
C1848869|Lack of external genitalia in a male or female individual.|HPO|N|
C1848873|Any abnormality of the diaphragm, the sheet of skeletal muscle that separates the thoracic cavity from the abdominal cavity.|HPO|N|
C1848903|Noneruption of teeth - maxillary hypoplasia - <i>genu valgum</i> is an extremely rare syndrome that is characterized by multiple unerupted permanent teeth, hypoplasia of the alveolar process and of the maxillo-zygomatic region, severe <i>genu valgum</i> and deformed ears.|ORDO|N|
C1848905|Underdevelopment of the alveolar process (also known as alveolar bone).|HPO|N|
C1848908|Hypoplasia of the maxillozygomatic complex.|HPO|N|
C1848909|This syndrome is characterized by congenital absence of the teeth, and sparse or absent hair. Taurodontia is also present in the majority of cases. The syndrome has been described in less than 15 patients from different families.|MONDO|N|
C1848912|Teebi-Shaltout syndrome is characterized by slow hair growth, scaphocephaly with prominent forehead, bitemporal depression, absence of primary teeth, camptodactyly, and caudal appendage with sacral dimple (summary by Aldemir et al., 2013).|OMIM|N|
C1848920|Cellular accumulation of GM2 gangliosides.|HPO|N|
C1848924|Onset of signs or symptoms of disease between 28 days to one year of life.|HPO|N|
C1848932|A rare hereditary ataxia characterized by simultaneous onset and development of cerebellar ataxia and chorioretinal degeneration (including macular degeneration, advancing choroidal sclerosis, punctata albescens, and retinitis pigmentosa). There have been no further descriptions in the literature since 1963.|ORDO|N|
C1848934|The FLNB disorders include a spectrum of phenotypes ranging from mild to severe. At the mild end are spondylocarpotarsal synostosis (SCT) syndrome and Larsen syndrome; at the severe end are the phenotypic continuum of atelosteogenesis types I (AOI) and III (AOIII) and Piepkorn osteochondrodysplasia (POCD). SCT syndrome is characterized by postnatal disproportionate short stature, scoliosis and lordosis, clubfeet, hearing loss, dental enamel hypoplasia, carpal and tarsal synostosis, and vertebral fusions. Larsen syndrome is characterized by congenital dislocations of the hip, knee, and elbow; clubfeet (equinovarus or equinovalgus foot deformities); scoliosis and cervical kyphosis, which can be associated with a cervical myelopathy; short, broad, spatulate distal phalanges; distinctive craniofacies (prominent forehead, depressed nasal bridge, malar flattening, and widely spaced eyes); vertebral anomalies; and supernumerary carpal and tarsal bone ossification centers. Individuals with SCT syndrome and Larsen syndrome can have midline cleft palate and hearing loss. AOI and AOIII are characterized by severe short-limbed dwarfism; dislocated hips, knees, and elbows; and clubfeet. AOI is lethal in the perinatal period. In individuals with AOIII, survival beyond the neonatal period is possible with intensive and invasive respiratory support. Piepkorn osteochondrodysplasia (POCD) is a perinatal-lethal micromelic dwarfism characterized by flipper-like limbs (polysyndactyly with complete syndactyly of all fingers and toes, hypoplastic or absent first digits, and duplicated intermediate and distal phalanges), macrobrachycephaly, prominant forehead, hypertelorism, and exophthalmos. Occasional features include cleft palate, omphalocele, and cardiac and genitourinary anomalies. The radiographic features at mid-gestation are characteristic.|GeneReviews|N|
C1848947|Cold-induced sweating syndrome (CISS) and its infantile presentation, Crisponi syndrome(CS) is characterized by dysmorphic features (distinctive facies, lower facial weakness, flexion deformity at the elbows, camptodactyly with fisted hands, misshapen feet, and overriding toes); intermittent contracture of facial and oropharyngeal muscles when crying or being handled with puckering of lips and drooling of foamy saliva often associated with laryngospasm and respiratory distress; excessive startling and opisthotonus-like posturing with unexpected tactile or auditory stimuli; poor suck reflex and severely impaired swallowing; and a scaly erythematous rash. During the first decade of life, children with CISS/CS develop profuse sweating of the face, arms, and chest with ambient temperatures below 18º to 22º C, and with other stimuli including nervousness or ingestion of sweets. Affected individuals sweat very little in hot environments and may feel overheated. Progressive thoracolumbar kyphoscoliosis occurs, requiring intervention in the second decade.|GeneReviews|N|
C1848953|Susceptibility to lysis by alloreactive natural killer (NK) cells is an autosomal recessive trait (thus differing from the behavior of conventional MHC products) (Ciccone et al., 1990; Ciccone et al., 1990).|OMIM|N|
C1848954|A type of dystonia that affects all or most of the body.|HPO|N|
C1848958|Decreased concentration of sulfate in the urine.|HPO|N|
C1848971|Elevated concentration of gamma-aminobutyric acid in the urine.|HPO|N|
C1848977|Decreased width of the upper lip.|HPO|N|
C1848978|Subvalvular stenosis is caused by a diaphragm-like membrane. The stenosis is clinically manifested like any other form of aortic stenosis but is often associated with some aortic insufficiency.|HPO|N|
C1848980|A cessation of the development of a child in the areas of motor skills, speech and language, cognitive skills, and social and/or emotional skills.|HPO|N|
C1849011|Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome is a rare, genetic primary bone dysplasia disorder characterized by disproportionate short stature with shortening of upper and lower limbs, short and broad fingers with short hands, narrowed chest with rib abnormalities and pectus excavatum, abnormal chondral calcifications (incl. larynx, trachea and costal cartilages) and facial dysmorphism (frontal bossing, hypertelorism, prominent eyes, short flat nose, wide nostrils, high-arched palate, long philtrum). Platyspondyly (esp. of cervical spine) and abnormal epiphyses and metaphyses are observed on radiography. Atlantoaxial instability causing spinal compression and recurrent respiratory disease are potential complications that may result lethal.|ORDO|N|
C1849016|An abnormally wide femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft).|HPO|N|
C1849020|Diminished length of a metatarsal bone, with resultant proximal displacement of the associated toe.|HPO|N|
C1849025|A face with a rounded and slightly elongated outline.|HPO|N|
C1849034|Underdevelopment of the body of ilium.|HPO|N|
C1849039|Abnormal widening of the metaphyseal regions of long bones.|HPO|N|
C1849043|A skin texture that is unusually soft (and may feel silky), and has a malleable consistency resembling that of dough.|HPO|N|
C1849049|Early ossification of the costochondral junction, which is the joint between the ribs and costal cartilage in the front of the rib cage.|HPO|N|
C1849053|Spondyloepiphyseal dysplasia tarda, Kohn type is characterized by short trunk dwarfism, progressive involvement of the spine and epiphyses and mild-to-moderate intellectual deficit.|ORDO|N|
C1849054|Autosomal recessive form of spondyloepiphyseal dysplasia tarda.|MONDO|N|
C1849055|Rock et al. (2008) provided an overview of the brachyolmias, a heterogeneous group of skeletal dysplasias that affect primarily the spine. Type 1 brachyolmia includes the Hobaek and Toledo (BCYM1B; 271630) forms, which are inherited in an autosomal recessive fashion. Both forms of type 1 are characterized by scoliosis, platyspondyly with rectangular and elongated vertebral bodies, overfaced pedicles, and irregular, narrow intervertebral spaces. The Toledo form is distinguished by the presence of corneal opacities and precocious calcification of the costal cartilage. Type 2 brachyolmia (BCYM2; 613678), sometimes referred to as the Maroteaux type, is also an autosomal recessive disorder, primarily distinguished from type 1 by rounded vertebral bodies and less overfaced pedicles. Some cases are associated with precocious calcification of the falx cerebri. Type 3 brachyolmia (BCYM3; 113500) is an autosomal dominant form, caused by mutation in the TRPV4 gene (605427), with severe kyphoscoliosis and flattened, irregular cervical vertebrae. Paradoxically, although the limbs are mildly shortened in all types of brachyolmia, they show minimal epiphyseal and metaphyseal abnormalities on radiographs. Type 4 brachyolmia (BCYM4; 612847) is an autosomal recessive form, caused by mutation in the PAPSS2 gene (603005), with mild epiphyseal and metaphyseal changes.|OMIM|N|
C1849063|Underdevelopment of the iliac bones.|HPO|N|
C1849065|An abnormally flat form of the proximal epiphysis of the radius.|HPO|N|
C1849069|Spondylocostal dysostosis-anal and genitourinary malformations syndrome is characterized by the association of spondylocostal dysostosis with anal and genitourinary malformations (anal atresia and agenesis of external and internal genitalia). To date, only four cases have been described in the literature. Autosomal recessive inheritance has been suggested.|MONDO|N|
C1849075|A relatively mild degree of macrocephaly in which the head circumference is not above two standard deviations from the mean, but appears dysproportionately large when other factors such as body stature are taken into account.|HPO|N|
C1849079|Narrowing (becoming gradually narrower) of the distance between lumbar vertebral pedicles that gets progressively more severe towards to caudal (lower) end of the vertebral column.|HPO|N|
C1849081|Longitudinal densities on radiographs located in a metaphysis (the narrow region of a long bone between the epiphysis and the diaphysis).|HPO|N|
C1849085|Extremely rare syndrome with features of spastic ataxia in association with bilateral congenital cataract, corneal dystrophy, and nonaxial myopia. It has been described in an inbred Bedouin family. Immunological abnormalities were frequent. Transmission is autosomal recessive and the disease is monogenic.|SNOMEDCT_US|N|
C1849087|Syndrome with the unusual combination of spinocerebellar degeneration and corneal dystrophy. Three sisters born to normal consanguineous parents have been reported, one of who had only minor spinocerebellar signs without ocular involvement. This autosomal recessive syndrome differs from the Mousa-Al-Din-Al-Nassar syndrome by the subnormal intellectual development and the epithelial (versus stromal) nature of the corneal dystrophy.|SNOMEDCT_US|N|
C1849088|A rare hereditary ataxia characterized by unusual facies (i. e. gross, rough and abundant hair, mild palpebral ptosis, thick lips, and down-curved corners of the mouth), dysarthria, delayed psychomotor development, scoliosis, foot deformities, and ataxia. There have been no further descriptions in the literature since 1985.|ORDO|N|
C1849089|Width of the forehead or distance between the frontotemporales is more than two standard deviations above the mean (objective); or apparently increased distance between the two sides of the forehead.|HPO|N|
C1849094|A rare autosomal recessive syndromic cerebellar ataxia with the association of early-onset cerebellar ataxia, hearing loss and blindness. Patients may also present demyelinating peripheral motor neuropathy. Cerebral MRI shows alterations of the cerebellar white matter without cerebellar atrophy.|SNOMEDCT_US|N|
C1849095|Deterioration or loss of the tissues of the cochlea.|HPO|N|
C1849096|Infantile-onset spinocerebellar ataxia (IOSCA) is a severe, progressive neurodegenerative disorder characterized by normal development until age one year, followed by onset of ataxia, muscle hypotonia, loss of deep-tendon reflexes, and athetosis. Ophthalmoplegia and sensorineural deafness develop by age seven years. By adolescence, affected individuals are profoundly deaf and no longer ambulatory; sensory axonal neuropathy, optic atrophy, autonomic nervous system dysfunction, and hypergonadotropic hypogonadism in females become evident. Epilepsy can develop into a serious and often fatal encephalopathy: myoclonic jerks or focal clonic seizures that progress to epilepsia partialis continua followed by status epilepticus with loss of consciousness.|GeneReviews|N|
C1849112|A rare, genetic, syndromic intellectual disability disorder characterized by the association of nonprogressive spastic quadriparesis, retinitis pigmentosa, intellectual disability, and variable deafness. There have been no further descriptions in the literature since 1976.|ORDO|N|
C1849113|Spastic paraplegia-glaucoma-intellectual disability syndrome is characterized by progressive spastic paraplegia, glaucoma and intellectual deficit. It has been described in two families. The second described sibship was born to consanguineous parents. The mode of inheritance is autosomal recessive.|ORDO|N|
C1849115|Spastic paraplegia-5A (SPG5A) is an autosomal recessive neurologic disorder with a wide phenotypic spectrum. Some patients have pure spastic paraplegia affecting only gait, whereas others may have a complicated phenotype with additional manifestations, including optic atrophy or cerebellar ataxia (summary by Arnoldi et al., 2012).
The hereditary spastic paraplegias (SPG) are a group of clinically and genetically diverse disorders characterized by progressive, usually severe, lower extremity spasticity; see reviews of Fink et al. (1996) and Fink (1997). Inheritance is most often autosomal dominant (see 182600), but X-linked (see 303350) and autosomal recessive forms also occur.
Genetic Heterogeneity of Autosomal Recessive Spastic Paraplegia
Autosomal recessive forms of SPG include SPG7 (607259), caused by mutation in the paraplegin gene (602783) on chromosome 16q24; SPG9B (616586), caused by mutation in the ALDH18A1 gene (138250) on 10q24; SPG11 (604360), caused by mutation in the spatacsin gene (610844) on 15q21; SPG15 (270700), caused by mutation in the ZFYVE26 gene (612012) on 14q24; SPG18 (611225), caused by mutation in the ERLIN2 gene (611605) on 8p11; SPG20 (275900), caused by mutation in the spartin gene (607111) on 13q12; SPG21 (248900), caused by mutation in the maspardin gene (608181) on 15q21; SPG26 (609195), caused by mutation in the B4GALNT1 gene (601873) on 12q13; SPG28 (609340), caused by mutation in the DDHD1 gene (614603) on 14q22; SPG30 (610357), caused by mutation in the KIF1A gene (601255) on 2q37; SPG35 (612319), caused by mutation in the FA2H gene (611026) on 16q23; SPG39 (612020), caused by mutation in the PNPLA6 gene (603197) on 19p13; SPG43 (615043), caused by mutation in the C19ORF12 gene (614297) on 19q12; SPG44 (613206), caused by mutation in the GJC2 gene (608803) on 1q42; SPG45 (613162), caused by mutation in the NT5C2 gene (600417) on 10q24; SPG46 (614409), caused by mutation in the GBA2 gene (609471) on 9p13; SPG48 (613647), caused by mutation in the KIAA0415 gene (613653) on 7p22; SPG50 (612936), caused by mutation in the AP4M1 gene (602296) on 7q22; SPG51 (613744), caused by mutation in the AP4E1 gene (607244) on 15q21; SPG52 (614067), caused by mutation in the AP4S1 gene (607243) on 14q12; SPG53 (614898), caused by mutation in the VPS37A gene (609927) on 8p22; SPG54 (615033), caused by mutation in the DDHD2 gene (615003) on 8p11; SPG55 (615035), caused by mutation in the MTRFR gene on 12q24; SPG56 (615030), caused by mutation in the CYP2U1 gene (610670) on 4q25; SPG57 (615658), caused by mutation in the TFG gene (602498) on 3q12; SPG61 (615685), caused by mutation in the ARL6IP1 gene (607669) on 1p12; SPG62 (615681), caused by mutation in the ERLIN1 gene on 10q24; SPG63 (615686), caused by mutation in the AMPD2 gene (102771) on 1p13; SPG64 (615683), caused by mutation in the ENTPD1 gene (601752) on 10q24; SPG72 (615625), caused by mutation in the REEP2 gene (609347) on 5q31; SPG74 (616451), caused by mutation in the IBA57 gene (615316) on 1q42; SPG75 (616680), caused by mutation in the MAG gene (159460) on 19q13; SPG76 (616907), caused by mutation in the CAPN1 gene (114220) on 11q13; SPG77 (617046), caused by mutation in the FARS2 gene (611592) on 6p25; SPG78 (617225), caused by mutation in the ATP13A2 gene (610513) on 1p36; SPG79 (615491), caused by mutation in the UCHL1 gene (191342) on 4p13; SPG81 (618768), caused by mutation in the SELENOI gene (607915) on 2p23; SPG82 (618770), caused by mutation in the PCYT2 gene (602679) on 17q25; SPG83 (619027), caused by mutation in the HPDL gene (618994) on 1p34; SPG84 (619621), caused by mutation in the PI4KA gene (600286) on 22q11; SPG85 (619686), caused by mutation in the RNF170 gene (614649) on 8p11; SPG86 (619735), caused by mutation in the ABHD16A gene (142620) on 6p21; SPG87 (619966), caused by mutation in the TMEM63C gene (619953) on 14q24; SPG89 (620379), caused by mutation in the AMFR gene (603243) on 16q13; and SPG90B (620417), caused by mutation in the SPTSSA gene (613540) on 14q13.
Additional autosomal recessive forms of SPG have been mapped to chromosomes 3q (SPG14; 605229), 13q14 (SPG24; 607584), 6q (SPG25; 608220), and 10q22 (SPG27; 609041).
A disorder that was formerly designated SPG49 has been reclassified as hereditary sensory and autonomic neuropathy-9 with developmental delay (HSAN9; 615031).|OMIM|N|
C1849128|Spastic paraplegia 15 (SPG15), typically an early-onset complex hereditary spastic paraplegia, is characterized by progressive spasticity that begins in the lower extremities and is associated with several manifestations resulting from central and peripheral nervous system dysfunction. While onset of spasticity is typically in mid- to late childhood or adolescence (i.e., between ages 5 and 18 years), other manifestations, such as developmental delay or learning disability, may be present earlier, often preceding motor involvement. Individuals with adult onset have also been reported.|GeneReviews|N|
C1849134|A decrease in the ability to perceive vibration in the legs.|HPO|N|
C1849140|Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is clinically characterized by a progressive cerebellar ataxia, peripheral neuropathy, and spasticity. Disease onset of classic ARSACS is often in early childhood, leading to delayed walking because of gait unsteadiness in very young toddlers, while an increasing number of individuals with disease onset in teenage or early-adult years are now being described. Typically the ataxia is followed by lower-limb spasticity and later by peripheral neuropathy – although pronounced peripheral neuropathy has been observed as a first sign of ARSACS. Oculomotor disturbances, dysarthria, and upper-limb ataxia develop with slower progression than the other findings. Brain imaging demonstrates atrophy of the superior vermis and the cerebellar hemisphere with additional findings on MRI, such as linear hypointensities in the pons and hyperintense rims around the thalami. Many affected individuals (though not all) have yellow streaks of hypermyelinated fibers radiating from the edges of the optic disc noted on ophthalmologic exam, and thickened retinal fibers can be demonstrated by optical coherence tomography. Mild intellectual disability, hearing loss, and urinary urgency and incontinence have been reported in some individuals.|GeneReviews|N|
C1849148|Reduced speed of conduction of the action potential along a sensory nerve.|HPO|N|
C1849152|A swan neck deformity describes a finger with a hyperextended PIP joint and a flexed DIP joint. The most common cause for a swan neck-like deformity is a disruption of the end of the extensor tendon. Conditions that loosen the PIP joint and allow it to hyperextend, for example conditions that weaken the volar plate, can produce a swan neck deformity of the finger. One example is rheumatoid arthritis. Another cause are conditions that tighten up the small (intrinsic) muscles of the hand and fingers, for example hand trauma or nerve disorders, such as cerebral palsy, Parkinson's disease, or stroke.|HPO|N|
C1849157|Patients with mutations in the receptor for insulin-like growth factor I show intrauterine growth retardation and postnatal growth failure, resulting in short stature and microcephaly. Other features may include delayed bone age, developmental delay, and dysmorphic features.|OMIM|N|
C1849172|Underdevelopment of the frontal lobe of the cerebrum.|HPO|N|
C1849185|Concentration of 7-dehydrocholesterol in the blood circulation above the upper limit of normal.|HPO|N|
C1849186|A severe degree of photosensitivity of the skin.|HPO|N|
C1849193|A group of rare autosomal recessive forms of ichthyosis with clinical characteristics of superficial, asymptomatic, spontaneous peeling of the skin and histologically by a shedding of the outer layers of the epidermis. Presents with either an acral or a generalised distribution.|SNOMEDCT_US|N|
C1849198|Lack of transparency of the corneal epithelium.|HPO|N|
C1849211|Abnormally increased hair growth over much of the entire body.|HPO|N|
C1849221|A lesser degree of hair pigmentation than would otherwise be expected.|HPO|N|
C1849227|A bony peculiarity underlies the Y-shaped fissure of the chin.|OMIM|N|
C1849242|An abnormality of the physiological functioning of B cells.|HPO|N|
C1849260|Paralysis of the facial nerves on the basis of overgrowth of the cranial bones causing impingement upon the seventh cranial nerve.|HPO|N|
C1849263|Increased density of the bony tissue of the scapula.|HPO|N|
C1849265|Excessive postnatal growth which may comprise increased weight, increased length, and/or increased head circumference.|HPO|N|
C1849276|Increased density of the compact bone of long bone.|HPO|N|
C1849290|The ilia is round and hypoplastic with a very flat acetabular roof and a very unusual medial projection of bone that is said to resemble the head of a snail. Figure 4 of PMID:3799723 illustrates this feature.|HPO|N|
C1849292|Ossification of carpal bones at an abnormally early age.|HPO|N|
C1849293|Precocious (accelerated) maturation and calcification of any of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones.|HPO|N|
C1849300|An abnormally increased width of the cranial fontanelles and sutures.|HPO|N|
C1849305|Absence or underdevelopment of the pubic bone.|HPO|N|
C1849307|An abnormal increase in the bone density of the long bones.|HPO|N|
C1849309|Increased width of the distal part of the shaft (metaphysis) of the femur.|HPO|N|
C1849311|A developmental defect characterized by reduced length of the first metacarpal (long bone) of the hand.|HPO|N|
C1849332|A rare multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, severe visual impairment due to ocular malformations (microphthalmos and microcornea with sclerocornea), short stature, hypotrichosis, dental anomalies, and dysmorphic facial features (such as a narrow nasal bridge with marked distal flaring and low-set, protruding ears). There have been no further descriptions in the literature since 1992.|ORDO|N|
C1849333|Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction (RCDFRD) is characterized by onset of hearing impairment and reduced vision within the first 5 years of life. Renal dysfunction results in rickets-like skeletal changes, and death may occur in childhood or young adulthood due to renal failure (Beighton et al., 1993).|OMIM|N|
C1849338|An abnormality of the structure or appearance of the umbilicus.|HPO|N|
C1849340|Distance between medial and lateral canthi is more than two standard deviations above the mean for age (objective); or, apparently increased length of the palpebral fissures.|HPO|N|
C1849341|The presence of a triangular form of the mouth.|HPO|N|
C1849343|This term applies if one or more of the distal phalanges of the hand are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated.|HPO|N|
C1849348|Patients with Richieri-Costa-Pereira syndrome display a pattern of anomalies consisting of microstomia, micrognathia, abnormal fusion of the mandible, cleft palate/Robin sequence, absence of lower central incisors, minor ear anomalies, hypoplastic first ray, abnormal tibiae, hypoplastic halluces, and clubfeet. Learning disability is also a common finding (summary by Favaro et al., 2011).|OMIM|N|
C1849357|An abnormality of the aryepiglottic fold.|HPO|N|
C1849358|Increase in size of the folds of skin between the outer labia.|HPO|N|
C1849364|Absence of fleshy non-cartilaginous tissue inferior to the tragus and incisura.|HPO|N|
C1849367|Increased breadth of the nasal bridge (and with it, the nasal root).|HPO|N|
C1849370|Phocomelia involving all four extremities.|HPO|N|
C1849382|Rhizomelic syndrome, Urbach type is a rare primary bone dysplasia characterized by upper limbs rhizomelia and other skeletal anomalies (e.g. short stature, dislocated hips, digitalization of the thumb with bifid distal phalanx), craniofacial features (e.g. microcephaly, large anterior fontanelle, fine and sparse scalp hair, depressed nasal bridge, high arched palate, micrognathia, short neck), congenital heart defects (e.g. pulmonary stenosis), delayed psychomotor development and mild flexion contractures of elbows. Radiologic evaluation may reveal flared epiphyses, platyspondyly and/or digital anomalies.|ORDO|N|
C1849383|Rheumatic fever (RF) is a delayed sequel to throat infection by Streptococcus pyogenes and affects susceptible untreated children. The disease manifests as polyarthritis, carditis, chorea, erythema marginatum, and/or subcutaneous nodules. Nearly 75% of affected children display arthritis and 30 to 45% develop carditis, which causes heart damage with pericardial, myocardial, and endocardial involvement followed by progressive and permanent valvular lesions leading to rheumatic heart disease (RHD) (summary by Guilherme et al., 2007).|OMIM|N|
C1849386|Recurrent myoglobinuria is characterized by recurrent attacks of rhabdomyolysis associated with muscle pain and weakness and followed by excretion of myoglobin in the urine. Renal failure may occasionally occur. Onset is usually in early childhood under the age of 5 years. Unlike the exercise-induced rhabdomyolyses such as McArdle syndrome (232600), carnitine palmitoyltransferase deficiency (see 255110), and the Creteil variety of phosphoglycerate kinase deficiency (311800), the attacks in recurrent myoglobinuria no relation to exercise, but are triggered by intercurrent illnesses, commonly upper respiratory tract infections (Ramesh and Gardner-Medwin, 1992).
See 160010 for discussion of a possible autosomal dominant form of myoglobinuria.
Severe rhabdomyolysis is a major clinical feature of anesthetic-induced malignant hyperthermia (145600), an autosomal dominant disorder.|OMIM|N|
C1849387|The RH-null phenotype designates rare individuals whose red blood cells lack all Rh antigens. Two RH-null types, the regulator type (RHNR) and the amorph type (RHNA; 617970), arising from independent genetic mechanisms have been distinguished. The regulator type is caused by mutation in the RHAG gene (180297), which encodes the Rh50 glycoprotein that is crucial for the surface disposition of Rh antigens. The amorph type arises from mutations at the RH locus itself that silence Rh expression.
The RH locus contains the RHD (111680) and RHCE (111700) genes tandemly arranged at chromosome 1p36-p34. Four genes must therefore be silenced to produce the RH-null phenotype. The absence of the D antigen, produced by the RHD gene, is common in the human population; the D-negative phenotype may result from deletion or genetic alteration of the RHD gene. The absence of D antigen defines the Rh-negative status of the human erythrocyte (summary by Huang et al., 2000).
Whereas Rh-null cells lack all Rh antigens, Rh-mod cells display a markedly reduced antigen expression. Clinically, Rh-deficient individuals exhibit a mild to moderate chronic hemolytic anemia accompanied by a varying degree of spherostomatocytosis (summary by Huang et al., 1999).|OMIM|N|
C1849392|Longitudinal, linear prominences in the fingernail plate.|HPO|N|
C1849394|An autosomal recessive retinopathy in which patients have increased sensitivity to blue light; perception of blue light is mediated by what is normally the least populous cone photoreceptor subtype, the S (short wavelength, blue) cones. Characteristics include visual loss, with night blindness occurring from early in life, varying degrees of L (long, red)- and M (middle, green)-cone vision, and retinal degeneration.|MONDO|N|
C1849398|A subtype of retinitis pigmentosa in which, instead of the pathology starting in the mid-periphery like typical retinitis pigmentosa, the disease starts in the near periphery closer to the vascular arcades and tends to spare the far periphery.|HPO|N|
C1849399|Retinohepatoendocrinologic syndrome is characterized by total colorblindness caused by progressive cone dystrophy, degenerative liver disease, and endocrine dysfunction (hypothyroidism, diabetes, repeated abortions or infertility). It has been described in six females from two sibships with a high degree of consanguinity, and in a male from another family.|MONDO|N|
C1849400|A retinitis pigmentosa that is characterized by onset of symptoms in the fifth or sixth decade of life.|MONDO|N|
C1849401|A rare syndromic retinitis pigmentosa characterized by pigmentary retinopathy, diabetes mellitus with hyperinsulinism, acanthosis nigricans, secondary cataracts, neurogenic deafness, short stature mild hypogonadism in males and polycystic ovaries with oligomenorrhea in females. Inheritance is thought to be autosomal recessive. It can be distinguished from Alstrom syndrome (see this term) by the presence of intellectual disability and the absence of renal insufficiency. There have been no further descriptions in the literature since 1993.|ORDO|N|
C1849407|Reticular pigmentary retinal dystrophy is a form of patterned dystrophy (see MDPT1, 169150) characterized by a reticular pattern of pigmentation that likely appears in infancy and may be fully developed at age 15 years. Indirect funduscopy has shown that the condition is bilateral and symmetric and that the pigmentary deposits are localized below the neuroepithelium, very likely in the pigment epithelium. The reticulum extends from the macula in all directions, sparing the midperiphery and periphery. Visual acuity is unaffected or only minimally affected in advanced stages. Retinal function testing is normal, although the electrooculogram and dark adaptation can be at the lower limit of normal values (summary by Schauwvlieghe et al., 2013).|OMIM|N|
C1849409|Knobloch syndrome is defined by vitreoretinal and macular degeneration, and occipital encephalocele. The disease has characteristics of early-onset severe myopia (usually becoming apparent in the first year of life), vitreoretinal degeneration with retinal detachment, macular abnormalities, and midline encephalocele (mainly in the occipital region). The syndrome is clinically and genetically heterogeneous with three forms, KNO1, KNO2 and KNO3, being defined. KNO1 is caused by inactivating mutations in the collagen XVIII/endostatin gene (COL18A1) mapped to 21q22.3. The KNO2 form was defined when linkage to the KNO1 locus was excluded in a family reported from New Zealand. Recently, a novel type of KS (KNO3) was mapped to chromosome 17q11.2. Inherited as an autosomal recessive trait.|SNOMEDCT_US|N|
C1849412|Underdevelopment of the macula lutea.|HPO|N|
C1849426|Complete inability of T cells to perform their functions in cell-mediated immunity.|HPO|N|
C1849437|Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013).
There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, 218330).
For a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 (208500).|OMIM|N|
C1849438|Syndrome with characteristics of renal dysplasia, growth retardation, phocomelia or mesomelia, radiohumeral fusion, rib abnormalities, anomalies of the external genitalia and a potter-like facies. The syndrome has been described in three infants, all of whom died shortly after birth from respiratory distress resulting from pulmonary hypoplasia and oligohydramnios caused by renal dysplasia. The mode of transmission appears to be autosomal recessive.|SNOMEDCT_US|N|
C1849452|Two types of melanin, the red pheomelanin and the black eumelanin, are present in human skin. Valverde et al. (1995) noted that eumelanin is photoprotective, whereas pheomelanin may contribute to UV-induced skin damage because of its potential to generate free radicals in response to ultraviolet radiation. Individuals with red hair have a predominance of pheomelanin in hair and skin and/or a reduced ability to produce eumelanin, which may explain why they fail to tan and are at risk from ultraviolet radiation. In mammals, the relative proportions of pheomelanin and eumelanin are regulated by melanocyte-stimulating hormone (see 176830), which acts via its receptor (MC1R) on melanocytes to increase the synthesis of eumelanin, and also via the product of the agouti locus (AGTI; 600201), which antagonizes this action.|OMIM|N|
C1849453|RAPADILINO syndrome is a rare condition that involves many parts of the body. Bone development is especially affected, causing many of the characteristic features of the condition.\n\nMost affected individuals have underdevelopment or absence of the bones in the forearms and the thumbs, which are known as radial ray malformations. The kneecaps (patellae) can also be underdeveloped or absent. Other features include an opening in the roof of the mouth (cleft palate) or a high arched palate; a long, slender nose; and dislocated joints.\n\nMany infants with RAPADILINO syndrome have difficulty feeding and experience diarrhea and vomiting. The combination of impaired bone development and feeding problems leads to slow growth and short stature in affected individuals.\n\nSome individuals with RAPADILINO syndrome have harmless light brown patches of skin that resemble a skin finding known as café-au-lait spots. In addition, people with RAPADILINO syndrome have a slightly increased risk of developing a type of bone cancer known as osteosarcoma or a blood-related cancer called lymphoma. In individuals with RAPADILINO syndrome, osteosarcoma most often develops during childhood or adolescence, and lymphoma typically develops in young adulthood.\n\nThe condition name is an acronym for the characteristic features of the disorder: RA for radial ray malformations, PA for patella and palate abnormalities, DI for diarrhea and dislocated joints, LI for limb abnormalities and little size, and NO for slender nose and normal intelligence.\n\nThe varied signs and symptoms of RAPADILINO syndrome overlap with features of other disorders, namely Baller-Gerold syndrome and Rothmund-Thomson syndrome. These syndromes are also characterized by radial ray defects, skeletal abnormalities, and slow growth. All of these conditions can be caused by mutations in the same gene. Based on these similarities, researchers are investigating whether Baller-Gerold syndrome, Rothmund-Thomson syndrome, and RAPADILINO syndrome are separate disorders or part of a single syndrome with overlapping signs and symptoms.|MedlinePlus Genetics|N|
C1849470|Radioulnar synostosis-developmental delay-hypotonia syndrome, also known as Der Kaloustian-McIntosh-Silver syndrome, is an extremely rare syndrome with synostosis described in about 4 patients to date with clinical manifestations including congenital unilateral radioulnar synostosis, generalized hypotonia, developmental delay, and dysmorphic facial features (long face, prominent nose and ears).|ORDO|N|
C1849488|An increased concentration of pyruvate in the blood.|HPO|N|
C1849507|Deficiency of pyrimidine 5-prime nucleotidase, also called uridine 5-prime monophosphate hydrolase, causes an autosomal recessive hemolytic anemia characterized by marked basophilic stippling and the accumulation of high concentrations of pyrimidine nucleotides within the erythrocyte. The enzyme is implicated in the anemia of lead poisoning and is possibly associated with learning difficulties. Hirono et al. (1988) suggested that this deficiency is the third most common RBC enzymopathy--after G6PD (300908) and pyruvate kinase (see 266200) deficiencies--causing hemolysis (summary by Marinaki et al., 2001).|OMIM|N|
C1849508|Pyridoxine-dependent epilepsy – ALDH7A1 (PDE-ALDH7A1) is characterized by seizures not well controlled with anti-seizure medication that are responsive clinically and electrographically to large daily supplements of pyridoxine (vitamin B6). This is true across a phenotypic spectrum that ranges from classic to atypical PDE-ALDH7A1. Intellectual disability is common, particularly in classic PDE-ALDH7A1. Classic PDE-ALDH7A1. Untreated seizures begin within the first weeks to months of life. Dramatic presentations of prolonged seizures and recurrent episodes of status epilepticus are typical; recurrent self-limited events including partial seizures, generalized seizures, atonic seizures, myoclonic events, and infantile spasms also occur. Electrographic seizures can occur without clinical correlates. Atypical PDE-ALDH7A1. Findings in untreated individuals can include late-onset seizures beginning between late infancy and age three years, seizures that initially respond to anti-seizure medication and then become intractable, seizures during early life that do not respond to pyridoxine but are subsequently controlled with pyridoxine several months later, and prolonged seizure-free intervals (=5 months) that occur after discontinuation of pyridoxine.|GeneReviews|N|
C1849510|An abnormality of fetal movement.|HPO|N|
C1849523|Pyknoachondrogenesis is a lethal skeletal osteochondrodysplasia characterized by severe generalized osteosclerosis. The disease is very rare and only five cases (four males and one female) have been reported in the literature so far. Pyknoachondrogenesis may be detected prenatally due to the extreme shortening of the limbs and hydrops fetalis, or is recognized at birth. The main clinical manifestations include a large head, palpebral edema, a flat nose, low-set ears, a short neck, a short and wide trunk, a prominent abdomen, and severe micromelic dwarfism. Etiology remains unknown. Pyknoachondrogenesis has a lethal outcome, either prenatally or during the early neonatal period.|SNOMEDCT_US|N|
C1849537|The anterior fontanelle generally ossifies by around the 18th month of life. A persistent open anterior fontanelle is diagnosed if closure is delayed beyond this age.|HPO|N|
C1849538|Delayed tooth eruption affecting the primary dentition.|HPO|N|
C1849540|Delayed tooth eruption affecting the secondary dentition.|HPO|N|
C1849554|Pulmonary lymphangiectasia is a rare congenital vascular dysplasia characterized by an increased number of dilated pulmonary lymphatics in the subpleural, peribronchial, and interlobular septa. Respiratory distress is usually noted immediately after birth (summary by Stevenson et al., 2006).|OMIM|N|
C1849577|Pterygia affecting the neck.|HPO|N|
C1849579|Anterior schisis (cleft or cleavage) of vertebral bodies.|HPO|N|
C1849618|Atherosclerosis which occurs in a person with certain risk factors (e.g., SLE, diabetes, smoking, hypertension, hypercholesterolaemia, family history of early heart disease) at an earlier age than would occur in another person without those risk factors.|HPO|N|
C1849649|Holoprosencephaly-postaxial polydactyly syndrome associates, in chromosomally normal neonates, holoprosencephaly, severe facial dysmorphism, postaxial polydactyly and other congenital abnormalities, suggestive of trisomy 13. Incidence is unknown. Dysmorphic features include hypotelorism, severe eye anomalies such as microphthalmia or anophthalmia, premaxillary region aplasia and cleft lip and palate. Congenital cardiac anomalies are common. The condition seems to be inherited as an autosomal recessive trait. Prognosis is poor.|SNOMEDCT_US|N|
C1849661|A very rare disorder associating pseudopapilloedema (optic disc swelling not secondary to increased intracranial pressure) mixed hearing loss, facial dysmorphism and limb extremity anomalies. Only 4 cases have been reported in the literature from 3 inbred sibships. The affected patients have no intellectual deficit. Transmitted as an autosomal recessive trait.|SNOMEDCT_US|N|
C1849667|Increased distance between the attachments of the alae nasi to the face.|HPO|N|
C1849678|Peroxisomal acyl-CoA oxidase deficiency is a disorder of peroxisomal fatty acid beta-oxidation. See also D-bifunctional protein deficiency (261515), caused by mutation in the HSD17B4 gene (601860) on chromosome 5q2. The clinical manifestations of these 2 deficiencies are similar to those of disorders of peroxisomal assembly, including Zellweger cerebrohepatorenal syndrome (see 214100) and neonatal adrenoleukodystrophy (see 601539) (Watkins et al., 1995).|OMIM|N|
C1849683|Lack of intentional participation in interactions with another person.|HPO|N|
C1849686|A diffuse form of hepatic steatosis.|HPO|N|
C1849696|A rare disorder of sex development characterized by primary amenorrhea and ambiguous external genitalia (enlarged clitoris with marked fusion of the labioscrotal folds) in association with skeletal anomalies (such as hypoplasia of the mandibular condyles and the maxilla, and ulnar dislocation of the radial heads), in the presence of a 46,XX karyotype and regular ovaries, fallopian tubes, and uterus. There have been no further descriptions in the literature since 1972.|ORDO|N|
C1849699|Progesterone prepares the endometrium for blastocyst implantation and allows maintenance of pregnancy. The major sources of progesterone are the corpus luteum during the second half of the menstrual cycle and at the beginning of pregnancy, and the placenta. The main hormones responsible for stimulation of progesterone secretion are luteinizing hormone (LH) for the corpus luteum of the menstrual cycle and chorionic gonadotropin for the corpus luteum of pregnancy. Complete end-organ resistance to progesterone would be incompatible with reproductive competence in females. Males would not be expected to be affected since progesterone has no known function in men. Failure of the uterus to respond to progesterone would lead to the development of a 'constantly proliferative' endometrium incompatible with blastocyst implantation. Partial resistance to progesterone, on the other hand, would be expected to be associated with various degrees of incomplete maturation of the endometrium, perhaps expressed clinically as infertility or early abortions. The syndrome would present with the clinical and histologic picture of a luteal phase defect in which the life span of the corpus luteum and the plasma progesterone concentrations would be normal or elevated.|OMIM|N|
C1849700|Tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia (HPA) D is an autosomal recessive disorder characterized by mild transient hyperphenylalaninemia often detected by newborn screening. Patients also show increased excretion of 7-biopterin. Affected individuals are asymptomatic and show normal psychomotor development, although transient neurologic deficits in infancy have been reported (Thony et al., 1998). Patients may also develop hypomagnesemia and nonautoimmune diabetes mellitus during puberty (summary by Ferre et al., 2014).
For a general phenotypic description and a discussion of genetic heterogeneity of BH4-deficient hyperphenylalaninemia, see HPABH4A (261640).|OMIM|N|
C1849715|An abnormal pink color of urine.|HPO|N|
C1849718|Bartsocas-Papas syndrome-1 (BPS1) is an autosomal recessive disorder characterized by multiple popliteal pterygia, ankyloblepharon, filiform bands between the jaws, cleft lip and palate, and syndactyly. Early lethality is common, although survival into childhood and beyond has been reported (summary by Mitchell et al., 2012).
Genetic Heterogeneity of Bartsocas-Papas Syndrome
Bartsocas-Papas syndrome-2 (BPS2) is caused by mutation in the CHUK gene (600664).
A less severe form of popliteal pterygium syndrome (PPS; 119500) is caused by mutation in the IRF6 gene (607199).|OMIM|N|
C1849719|Syndrome with characteristics of polysyndactyly, hexadactyly (duplication of the first toe) and complex cardiac malformation (including atrial and ventricular septal defect, single ventricle, aortic dextroposition, or dilation of the right heart). It has been described in six patients from three unrelated families. Other manifestations were present in some patients (i.e. facial dysmorphism, hepatic cysts).|SNOMEDCT_US|N|
C1849722|Most individuals with classic GBE1 adult polyglucosan body disease (GBE1-APBD) present after age 40 years with unexplained progressive neurogenic bladder, gait difficulties (i.e., spasticity and weakness) from mixed upper and lower motor neuron involvement, sensory loss predominantly in the distal lower extremities, autonomic dysfunction (associated with orthostatic hypotension and constipation), and mild cognitive difficulties (often executive dysfunction). Some affected individuals without classic GBE1-APBD have atypical phenotypes including Alzheimer disease-like dementia and axonal neuropathy, stroke-like episodes, and diaphragmatic failure; others may have a history of infantile liver disease.|GeneReviews|N|
C1849732|Postaxial polydactyly-dental and vertebral anomalies syndrome is a rare, genetic, developmental defect during embryogenesis syndrome characterized by postaxial polydactyly and other abnormalities of the hands and feet (e.g. brachydactyly, broad toes), hypoplasia and fusion of the vertebral bodies, as well as dental abnormalities (fused teeth, macrodontia, hypodontia, short roots). There have been no further descriptions in the literature since 1977.|ORDO|N|
C1849735|Underdevelopment of the helix that either affects the entire helix, or is localized.|HPO|N|
C1849762|Gillessen-Kaesbach-Nishimura syndrome is an autosomal recessive multiple congenital anomaly disorder characterized by skeletal dysplasia, dysmorphic facial features, and variable visceral abnormalities, including polycystic kidneys, diaphragmatic hernia, lung hypoplasia, and congenital heart defects. It may be lethal in utero or early in life. The disorder is at the severe end of the phenotypic spectrum of congenital disorders of glycosylation (summary by Tham et al., 2016).|OMIM|N|
C1849765|A lack of differentiation between renal cortex and medulla on diagnostic imaging.|HPO|N|
C1849766|The presence of fibrosis affecting the interlobular stroma of liver.|HPO|N|
C1849779|Kowarski syndrome, or short stature associated with bioinactive growth hormone, is characterized clinically by normal or slightly increased GH secretion, pathologically low IGF1 (147440) levels, and normal catch-up growth on GH replacement therapy (Besson et al., 2005).|OMIM|N|
C1849792|Achromatopsia is characterized by reduced visual acuity, pendular nystagmus, increased sensitivity to light (photophobia), a small central scotoma, eccentric fixation, and reduced or complete loss of color discrimination. All individuals with achromatopsia (achromats) have impaired color discrimination along all three axes of color vision corresponding to the three cone classes: the protan or long-wavelength-sensitive cone axis (red), the deutan or middle-wavelength-sensitive cone axis (green), and the tritan or short-wavelength-sensitive cone axis (blue). Most individuals have complete achromatopsia, with total lack of function of all three types of cones. Rarely, individuals have incomplete achromatopsia, in which one or more cone types may be partially functioning. The manifestations are similar to those of individuals with complete achromatopsia, but generally less severe. Hyperopia is common in achromatopsia. Nystagmus develops during the first few weeks after birth followed by increased sensitivity to bright light. Best visual acuity varies with severity of the disease; it is 20/200 or less in complete achromatopsia and may be as high as 20/80 in incomplete achromatopsia. Visual acuity is usually stable over time; both nystagmus and sensitivity to bright light may improve slightly. Although the fundus is usually normal, macular changes (which may show early signs of progression) and vessel narrowing may be present in some affected individuals. Defects in the macula are visible on optical coherence tomography.|GeneReviews|N|
C1849797|Chronic degenerative changes of the teeth, mainly the incisors, due to trauma or inflammation. It involves abnormal development of odontogenic tissue and is characterized by abnormal deposits of dentin, cementum, and osteoid.|NCI|N|
C1849805|A rare ectodermal dysplasia syndrome with characteristics of dysplastic abnormalities of the hair and teeth (including hypodontia, abnormally shaped teeth, scalp hypotrichosis and pili annulati), follicular hyperkeratosis on the trunk and limbs, and hyperopia. Intensified delineation, reticular hyperpigmentation of the nape and astigmatism have also been reported. There have been no further descriptions in the literature since 1985.|SNOMEDCT_US|N|
C1849811|Abnormal hair, joint laxity, and developmental delay (HJDD) is characterized by normal hair at birth that gradually becomes sparse, twisted, brittle, and easily broken, with pili torti and trichorrhexis nodosa observed on light microscopy. Other features include increased joint mobility and cognitive delay (Sharma et al., 2019).|OMIM|N|
C1849813|A rare glycogen storage disease with fetal or neonatal onset of severe cardiomyopathy with non-lysosomal glycogen accumulation and fatal outcome in infancy. Patients present with massive cardiomegaly, severe cardiac and respiratory complications and failure to thrive. Non-specific facial dysmorphism, bilateral cataracts, macroglossia, hydrocephalus, enlarged kidneys and skeletal muscle involvement have been reported in some cases.|SNOMEDCT_US|N|
C1849928|A very rare syndrome with the association of limb pterygia, heart anomalies, autosomal recessive inheritance, vertebral defects, ear anomalies and radial defects. It has been described in two siblings. One of the siblings also had a myelomeningocele. The reported cases suggest the condition is hereditary with probable autosomal recessive inheritance.|SNOMEDCT_US|N|
C1849929|A very rare dysmorphic syndrome described in two siblings. The syndrome has characteristics of short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice, cup-shaped ears and narrow palpebral fissures with epicanthal folds and intellectual deficit.|SNOMEDCT_US|N|
C1849930|The persistent mullerian duct syndrome is characterized by the persistence of mullerian derivatives, uterus and tubes, in otherwise normally virilized males (summary by Knebelmann et al., 1991).|OMIM|N|
C1849937|A type of disproportionate short stature characterized by a short limbs but an average-sized trunk.|HPO|N|
C1849950|Agenesis of one or more maxillary lateral incisor, comprising the maxillary lateral primary incisor and maxillary lateral secondary incisor.|HPO|N|
C1849953|An abnormally squared appearance of the bony pelvis, a normally rounded or basin-shaped structure.|HPO|N|
C1849993|An abnormal punctate (speckled, dot-like) pattern of calcifications in soft tissues within or surrounding bones (as observed on radiographs).|HPO|N|
C1850000|Eosinophil peroxidase deficiency is a rare abnormality of eosinophil granulocytes characterized by decreased or absent peroxidase activity and decreased volume of the granule matrix (summary by Romano et al., 1994). Nakagawa et al. (2001) noted that there are no clinical symptoms and the diagnosis is made solely by cytochemical analysis.|OMIM|N|
C1850039|Chronic form of pericardial effusion (disease).|MONDO|N|
C1850040|Syndrome with characteristics of pelviscapular dysplasia with epiphyseal abnormalities, congenital dwarfism and facial dysmorphism. The facial dysmorphism has manifestations of frontal bossing, hypertelorism, narrow palpebral fissures, deep-set eyes, strabismus, low-set posteriorly rotated and malformed ears, dysplasia of conchae, a small chin, a short neck with redundant skin folds, and a low hairline. Intelligence may vary from normal to moderately impaired. Radiographic features comprise aplasia of the body of the scapula, hypoplasia of the iliac bone, humeroradial synostosis, dislocation of the femoral heads, and moderate brachydactyly. Mutations in the TBX15 gene have been identified as potentially causative. Pelviscapular dysplasia is phenotypically similar to pelvis-shoulder dysplasia.|SNOMEDCT_US|N|
C1850041|Excess facial hair.|HPO|N|
C1850048|Absence of the proximal interphalangeal flexion creases of the fingers.|HPO|N|
C1850049|Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger).|HPO|N|
C1850053|Autosomal recessive hypomyelinating leukodystrophy-3 (HLD3) is a severe neurologic disorder characterized by early infantile onset of global developmental delay, lack of development, lack of speech acquisition, and peripheral spasticity associated with decreased myelination in the central nervous system (summary by Feinstein et al., 2010).
The disorder is phenotypically similar to X-linked Pelizaeus-Merzbacher disease (PMD; 312080), which is caused by mutation in the PLP1 gene (300401). For a general phenotypic description and a discussion of genetic heterogeneity of HLD, see 312080.|OMIM|N|
C1850054|Immunodeficiency-108 with autoinflammation (IMD108) is an autosomal recessive disorder characterized mainly by features of autoinflammation, often manifest as onset of recurrent episodes of abdominal pain associated with fever and elevated inflammatory markers around adolescence. Affected individuals also have recurrent infections, particularly of the skin and nails; poor wound healing; and mild bleeding tendencies. Peripheral blood examination shows hypolobulated neutrophils, suggesting a defect in myeloid differentiation and function. However, neutrophil primary and secondary granules are normal (summary by Goos et al., 2019).|OMIM|N|
C1850055|PEHO is a severe autosomal recessive neurodevelopmental disorder characterized by extreme cerebellar atrophy due to almost total loss of granule neurons. Affected individuals present in early infancy with hypotonia, profoundly delayed psychomotor development, optic atrophy, progressive atrophy of the cerebellum and brainstem, and dysmyelination. Most patients also develop infantile seizures that are often associated with hypsarrhythmia on EEG, and many have peripheral edema (summary by Anttonen et al., 2017).|OMIM|N|
C1850056|A rare genetic neurological disease characterized by progressive encephalopathy, early-onset seizures with a hypsarrhythmic pattern, facial and limb edema, severe hypotonia, early arrest of psychomotor development and craniofacial dysmorphism (evolving microcephaly, narrow forehead, short nose, prominent auricles, open mouth, micrognathia), in the absence of neuro-ophthalmic or neuroradiologic findings. Poor visual responsiveness, growth failure and tapering fingers are also associated. There is evidence the disease is caused by homozygous mutation in the CCDC88A gene on chromosome 2p16.|SNOMEDCT_US|N|
C1850077|An atypical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease, by prominent early parkinsonism (tremor, limb bradykinesia, axial and limb rigidity) rather than falls and cognitive change. Over the years, patients ultimately develop clinical features characteristic of classical PSP. Neuropathological characteristics includes tau pathology and neuronal loss in specific brain areas, especially in the subthalamic nucleus and substantia nigra. The tau pathology is less severe than in classical PSP.|ORDO|N|
C1850079|A rare genetic skin disorder with characteristics of very early-onset of progressive skin thickening over the entire body (except for eyelids, neck and ears), progressively limited joint mobility with gradual freezing of joints and eventual severe chest and abdomen movement restriction, manifesting with restrictive pulmonary disease, which may lead to death. Additional features include severe growth restriction and osteoporosis. There have been no further descriptions in the literature since 1974.|SNOMEDCT_US|N|
C1850100|Parkinson's disease is a progressive disorder of the nervous system. The disorder affects several regions of the brain, especially an area called the substantia nigra that controls balance and movement.\n\nOften the first symptom of Parkinson's disease is trembling or shaking (tremor) of a limb, especially when the body is at rest. Typically, the tremor begins on one side of the body, usually in one hand. Tremors can also affect the arms, legs, feet, and face. Other characteristic symptoms of Parkinson's disease include rigidity or stiffness of the limbs and torso, slow movement (bradykinesia) or an inability to move (akinesia), and impaired balance and coordination (postural instability). These symptoms worsen slowly over time.\n\nParkinson's disease can also affect emotions and thinking ability (cognition). Some affected individuals develop psychiatric conditions such as depression and visual hallucinations. People with Parkinson's disease also have an increased risk of developing dementia, which is a decline in intellectual functions including judgment and memory.\n\nGenerally, Parkinson's disease that begins after age 50 is called late-onset disease. The condition is described as early-onset disease if signs and symptoms begin before age 50. Early-onset cases that begin before age 20 are sometimes referred to as juvenile-onset Parkinson's disease.|MedlinePlus Genetics|N|
C1850105|A rare multiple congenital anomalies/dysmorphic syndrome characterized by the association of dysplastic external ears, nail hypoplasia, and variable skeletal malformations, such as hypoplastic or absent fibulae, abnormalities of the scapula, clavicle, and acromioclavicular joint, and talipes equinovarus, among others. Joint contractures and mild facial dysmorphism have also been reported.|ORDO|N|
C1850106|Raine syndrome (RNS) is a neonatal osteosclerotic bone dysplasia of early and aggressive onset that usually results in death within the first few weeks of life, although there have been some reports of survival into childhood. Radiographic studies show a generalized increase in the density of all bones and a marked increase in the ossification of the skull. The increased ossification of the basal structures of the skull and facial bones underlies the characteristic facial features, which include narrow prominent forehead, proptosis, depressed nasal bridge, and midface hypoplasia. Periosteal bone formation is also characteristic of this disorder and differentiates it from osteopetrosis and other known lethal and nonlethal osteosclerotic bone dysplasias. The periosteal bone formation typically extends along the diaphysis of long bones adjacent to areas of cellular soft tissue (summary by Simpson et al., 2009). Some patients survive infancy (Simpson et al., 2009; Fradin et al., 2011).|OMIM|N|
C1850126|Osteopetrosis is a bone disease that makes bone tissue abnormally compact and dense and also prone to breakage (fracture). Researchers have described several major types of osteopetrosis, which are usually distinguished by their pattern of inheritance: autosomal dominant or autosomal recessive. The different types of the disorder can also be distinguished by the severity of their signs and symptoms.\n\nAutosomal dominant osteopetrosis (ADO), which is also called Albers-Schönberg disease, is typically the mildest type of the disorder. Some affected individuals have no symptoms. In affected people with no symptoms, the unusually dense bones may be discovered by accident when an x-ray is done for another reason. \n\nIn individuals with ADO who develop signs and symptoms, the major features of the condition include multiple bone fractures after minor injury, abnormal side-to-side curvature of the spine (scoliosis) or other spinal abnormalities, arthritis in the hips, and a bone infection called osteomyelitis. These problems usually become apparent in late childhood or adolescence.\n\nA few individuals have been diagnosed with intermediate autosomal osteopetrosis (IAO), a form of the disorder that can have either an autosomal dominant or an autosomal recessive pattern of inheritance. The signs and symptoms of this condition become noticeable in childhood and include an increased risk of bone fracture and anemia. People with this form of the disorder typically do not have life-threatening bone marrow abnormalities. However, some affected individuals have had abnormal calcium deposits (calcifications) in the brain, intellectual disability, and a form of kidney disease called renal tubular acidosis.\n\nAutosomal recessive osteopetrosis (ARO) is a more severe form of the disorder that becomes apparent in early infancy. Affected individuals have a high risk of bone fracture resulting from seemingly minor bumps and falls. Their abnormally dense skull bones pinch nerves in the head and face (cranial nerves), often resulting in vision loss, hearing loss, and paralysis of facial muscles. Dense bones can also impair the function of bone marrow, preventing it from producing new blood cells and immune system cells. As a result, people with severe osteopetrosis are at risk of abnormal bleeding, a shortage of red blood cells (anemia), and recurrent infections. In the most severe cases, these bone marrow abnormalities can be life-threatening in infancy or early childhood.\n\nOther features of autosomal recessive osteopetrosis can include slow growth and short stature, dental abnormalities, and an enlarged liver and spleen (hepatosplenomegaly). Depending on the genetic changes involved, people with severe osteopetrosis can also have brain abnormalities, intellectual disability, or recurrent seizures (epilepsy).|MedlinePlus Genetics|N|
C1850127|Osteopetrosis (OPT) is a life-threatening disease caused by subnormal osteoclast function, with an incidence of 1 in 250,000 births. The disease usually manifests in the first few months of life with macrocephaly and frontal bossing, resulting in a characteristic facial appearance. Defective bone remodeling of the skull results in choanal stenosis with concomitant respiratory problems and feeding difficulties, which are the first clinical manifestation of disease. The expanding bone encroaches on neural foramina, leading to blindness, deafness, and facial palsy. Complete visual loss invariably occurs in all untreated patients, and hearing loss is estimated to affect 78% of patients with OPT. Tooth eruption defects and severe dental caries are common. Calcium feedback hemostasis is impaired, and children with OPT are at risk of developing hypocalcemia with attendant tetanic seizures and secondary hyperparathyroidism. The most severe complication of OPT, limiting survival, is bone marrow insufficiency. The abnormal expansion of cortical and trabecular bone physically limits the availability of medullary space for hematopoietic activity, leading to life-threatening cytopenia and secondary expansion of extramedullary hematopoiesis at sites such as the liver and spleen (summary by Aker et al., 2012).
Genetic Heterogeneity of Autosomal Recessive Osteopetrosis
Other forms of autosomal recessive infantile malignant osteopetrosis include OPTB4 (611490), which is caused by mutation in the CLCN7 gene (602727) on chromosome 16p13, and OPTB5 (259720), which is caused by mutation in the OSTM1 gene (607649) on chromosome 6q21. A milder, osteoclast-poor form of autosomal recessive osteopetrosis (OPTB2; 259710) is caused by mutation in the TNFSF11 gene (602642) on chromosome 13q14, an intermediate form (OPTB6; 611497) is caused by mutation in the PLEKHM1 gene (611466) on chromosome 17q21, and a severe osteoclast-poor form associated with hypogammaglobulinemia (OPTB7; 612301) is caused by mutation in the TNFRSF11A gene (603499) on chromosome 18q22. Another form of autosomal recessive osteopetrosis (OPTB8; 615085) is caused by mutation in the SNX10 gene (614780) on chromosome 7p15. A form of autosomal recessive osteopetrosis associated with renal tubular acidosis (OPTB3; 259730) is caused by mutation in the CA2 gene (611492) on chromosome 8q21. OPTB9 (620366) is caused by mutation in the SLC4A2 gene (109280) on chromosome 7q36.
Autosomal dominant forms of osteopetrosis are more benign (see OPTA1, 607634).|OMIM|N|
C1850135|The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones.|HPO|N|
C1850140|A rare syndrome described in two sisters of Mennonite descent, with characteristics of sparse hair, osteopenia, intellectual disability, minor facial abnormalities, joint laxity and hypotonia. There have been no further descriptions in the literature since 1992.|SNOMEDCT_US|N|
C1850143|Rare disorder with features of severe resorption of the hands and feet and absence of the distal and middle phalanges. Other manifestations include distal muscular hypertrophy, flexion contractures, short stature, mild intellectual deficit and characteristic facies (maxillary hypoplasia, exophthalmos, and a broad nasal tip). It is transmitted as an autosomal recessive trait.|SNOMEDCT_US|N|
C1850155|Multicentric osteolysis nodulosis and arthropathy (MONA) is a skeletal dysplasia characterized by progressive osteolysis (particularly of the carpal and tarsal bones), osteoporosis, subcutaneous nodules on the palms and soles, and progressive arthropathy (joint contractures, pain, swelling, and stiffness). Other manifestations include coarse facies, pigmented skin lesions, cardiac defects, and corneal opacities. Onset is usually between ages six months and six years (range: birth to 11 years).|GeneReviews|N|
C1850168|Bruck syndrome-1 (BRKS1) is characterized by congenital contractures with pterygia, onset of fractures in infancy or early childhood, postnatal short stature, severe limb deformity, and progressive scoliosis (McPherson and Clemens, 1997).
Genetic Heterogeneity of Bruck Syndrome
Bruck syndrome-2 (BRKS2; 609220) is caused by homozygous mutation in the PLOD2 gene (601865) on chromosome 3q24. Van der Slot et al. (2003) stated that they were unaware of any phenotypic differences between the 2 forms of Bruck syndrome.|OMIM|N|
C1850169|Osteogenesis imperfecta (OI) is a connective tissue disorder characterized clinically by bone fragility and increased susceptibility to fractures. Osteogenesis imperfecta type IX (OI9) is a severe autosomal recessive form of the disorder (summary by van Dijk et al., 2009).|OMIM|N|
C1850171|A type of short-limbed dwarfism that is manifest beginning in the neonatal period.|HPO|N|
C1850178|Curvature of the shafts of the long bones due to multiple fractures.|HPO|N|
C1850184|A rare multiple congenital malformations/dysmorphic syndrome characterized by osteogenesis imperfecta with multiple prenatal bone fractures, joint laxity, severe microcephaly, and bilateral cataracts. Additional reported manifestations include dysmorphic facial features (such as blue sclerae, hypertelorism, and low-set ears), lissencephaly, hydrocephalus, and cardiac and genital anomalies. The syndrome is lethal <i>in utero</i> or shortly after birth. There have been no further descriptions in the literature since 1978.|ORDO|N|
C1850186|A rare genetic dysostosis disorder with characteristics of craniofacial bone abnormalities (for example midface hypoplasia, broad, flat nasal bridge, narrow, thin prognathic mandible with pointed chin, malocclusion, partial dental agenesis) associated with additional osseous anomalies, including scoliosis, calvarial thinning, pointed spinous processes, clinodactyly and abnormal phalanges. Elevated erythrocyte sedimentation rate, hyperuricemia and hypertension have also been reported. There have been no further descriptions in the literature since 1982.|SNOMEDCT_US|N|
C1850191|A polar cataract that affects the posterior pole of the lens.|HPO|N|
C1850196|An excessive concavity of the posterior surface of one or more vertebral bodies.|HPO|N|
C1850256|A type of cleft lip presenting as a midline (median) gap in the upper lip.|HPO|N|
C1850259|Underdevelopment (reduced size) of the tibia.|HPO|N|
C1850268|Ichthyosis-oral and digital anomalies syndrome is characterised by ichthyosis, unusual facies (small mouth with a thin upper lip and lower lip with a midline groove) and digital anomalies (tapered fingers with a lack of distal flexion creases and wide spacing between the second and third fingers). It has been described in two sibs born to first cousin parents. Transmission appears to be autosomal recessive.|ORDO|N|
C1850303|A rare genetic neuro-ophthalmological disease with characteristics of progressive weakness of the external eye muscles, resulting in bilateral ptosis and diffuse, symmetric ophthalmoparesis. Additional signs may include generalised skeletal muscle weakness, muscle atrophy, sensory axonal neuropathy, ataxia, cardiomyopathy, and psychiatric symptoms. It is usually more severe than autosomal dominant form.|SNOMEDCT_US|N|
C1850314|Total ophthalmoplegia involves total paralysis of all extra- and intraocular muscles. If one or more of the external muscles, including the levator palpebrae, is not affected, the condition is known as incomplete or partial ophthalmoplegia. If only 1 nerve is affected, the palsy is named after that nerve (see, e.g., abducens palsy, 100200) (Waardenburg, 1963).|OMIM|N|
C1850317|Syndrome with the association of omphalocele and cleft palate. It has been described in three daughters of normal unrelated parents. They were all diagnosed at birth. This syndrome is likely to be inherited as an autosomal recessive condition.|SNOMEDCT_US|N|
C1850318|Omodysplasia-1 (OMOD1) is a rare autosomal recessive skeletal dysplasia characterized by severe congenital micromelia with shortening and distal tapering of the humeri and femora to give a club-like appearance. Typical facial features include a prominent forehead, frontal bossing, short nose with a depressed broad bridge, short columella, anteverted nostrils, long philtrum, and small chin. Variable findings are cryptorchidism, hernias, congenital heart defects, and cognitive delay (Elcioglu et al., 2004; Albano et al., 2007).
Genetic Heterogeneity of Omodysplasia
Also see omodysplasia-2 (OMOD2; 164745), an autosomal dominant form of the disorder in which abnormalities are limited to the upper limbs. The facial changes and typical growth defect of the distal humerus with complex deformity of the elbows appear to be similar in both entities (Baxova et al., 1994).|OMIM|N|
C1850320|A very rare syndrome with characteristics of intellectual deficit, postaxial polydactyly and epilepsy. To date, seven individuals in three families have been reported. Facial features are not characteristic except for a prominent jaw. Concordant features in all subjects are postaxial polydactyly, which in four individuals affect also the feet, and intellectual deficit, which is usually severe, with absent or indistinct speech. Seizures are common with onset in the first months of life or in early childhood. Cutaneous syndactyly, camptodactyly and clinodactyly of fingers and brachydactyly and syndactyly of the toes have been recorded.|SNOMEDCT_US|N|
C1850321|Carey et al. (1978) gave the name OEIS complex to a combination of defects comprising omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects. This rare complex is thought to represent the most severe end of a spectrum of birth defects, the exstrophy-epispadias sequence, which, in order of increasing severity, includes phallic separation with epispadias, pubic diastasis, exstrophy of the bladder (600057), cloacal exstrophy, and OEIS complex. Very few instances of recurrence of anomalies in this cluster have been reported.|OMIM|N|
C1850327|The presence of a bifid uterus.|HPO|N|
C1850331|A rare multiple congenital anomalies/dysmorphic syndrome with characteristics of profound intellectual disability, choreoathetosis, progressive spastic diplegia, progressive tapetoretinal degeneration with loss of retinal vessels and glomerulopathy resulting in death late in the first or early in the second decade of life. Absence of the cerebellar granular layer has been reported.|SNOMEDCT_US|N|
C1850332|This disease has characteristics of retinitis pigmentosa, trichodysplasia, dental anomalies, and onychodysplasia. It has been described in two siblings (brother and sister) born to first cousin parents. Transmission appears to be autosomal recessive.|SNOMEDCT_US|N|
C1850336|Presence of only one (instead of two, as normal) interphalangeal crease of the fifth finger.|HPO|N|
C1850338|Oculopalatocerebral syndrome is a rare disorder characterized by low birth weight, microcephaly, persistent hyperplastic primary vitreous, microphthalmia, large ears, small hands and feet, cleft palate, joint hypermobility, developmental delay, and cerebral atrophy (summary by Pellegrino et al., 2001).|OMIM|N|
C1850343|Mosaic variegated aneuploidy (MVA) syndrome is a rare disorder in which some cells in the body have an abnormal number of chromosomes instead of the usual 46 chromosomes, a situation known as aneuploidy. Most commonly, cells have an extra chromosome, which is called trisomy, or are missing a chromosome, which is known as monosomy. In MVA syndrome, some cells are aneuploid and others have the normal number of chromosomes, which is a phenomenon known as mosaicism. Typically, at least one-quarter of cells in affected individuals have an abnormal number of chromosomes. Because the additional or missing chromosomes vary among the abnormal cells, the aneuploidy is described as variegated.\n\nIn MVA syndrome, growth before birth is slow (intrauterine growth restriction). After birth, affected individuals continue to grow at a slow rate and are shorter than average. In addition, they typically have an unusually small head size (microcephaly). Another common feature of MVA syndrome is an increased risk of developing cancer in childhood. Cancers that occur most frequently in affected individuals include a cancer of muscle tissue called rhabdomyosarcoma, a form of kidney cancer known as Wilms tumor, and a cancer of the blood-forming tissue known as leukemia.\n\nThere are at least three types of MVA syndrome, each with a different genetic cause. Type 1 is the most common and displays the classic signs and symptoms described above. Type 2 appears to have slightly different signs and symptoms than type 1, although the small number of affected individuals makes it difficult to define its characteristic features. Individuals with MVA syndrome type 2 grow slowly before and after birth; however, their head size is typically normal. Some people with MVA syndrome type 2 have unusually short arms. Individuals with MVA syndrome type 2 do not seem to have an increased risk of cancer. Another form of MVA syndrome is characterized by a high risk of developing Wilms tumor. Individuals with this form may also have other signs and symptoms typical of MVA syndrome type 1.\n\nLess commonly, people with MVA syndrome have eye abnormalities or distinctive facial features, such as a broad nasal bridge and low-set ears. Some affected individuals have brain abnormalities, the most common of which is called Dandy-Walker malformation. Intellectual disability, seizures, and other health problems can also occur in people with MVA syndrome.|MedlinePlus Genetics|N|
C1850348|Developmental defect characterized by a small and malformed corpus callosum.|HPO|N|
C1850362|Autosomal recessive congenital stationary night blindness is a disorder of the retina, which is the specialized tissue at the back of the eye that detects light and color. People with this condition typically have difficulty seeing and distinguishing objects in low light (night blindness). For example, they may not be able to identify road signs at night or see stars in the night sky. They also often have other vision problems, including loss of sharpness (reduced acuity), nearsightedness (myopia), involuntary movements of the eyes (nystagmus), and eyes that do not look in the same direction (strabismus).\n\nThe vision problems associated with this condition are congenital, which means they are present from birth. They tend to remain stable (stationary) over time.|MedlinePlus Genetics|N|
C1850380|Neutrophil actin dysfunction (NAD) is an immunologic disorder characterized by early onset of recurrent infections, including oral, skin, and respiratory. Organisms are mainly bacterial and fungal. Patients tend to develop fever and hepatosplenomegaly with continued infection; bone marrow transplant is an effective treatment. The disorder results from impaired neutrophil mobility and chemotaxis associated with abnormal actin dynamics. Although a causative mutation has not been identified, studies have shown an association between the disorder and increased levels of a 47-kD F-actin-binding protein known as LSP1 (153432) and decreased levels of an unknown 89-kD protein (summary by Coates et al., 1991 and Howard et al., 1998).|OMIM|N|
C1850384|A hereditary sensory neuropathy characterized by late onset of sensory ataxia without ulcerating acropathy or autonomic abnormalities.|MONDO|N|
C1850386|GAN-related neurodegeneration comprises a phenotypic continuum ranging from severe (sometimes called classic giant axonal neuropathy) to milder pure early-onset peripheral motor and sensory neuropathies. The classic giant axonal neuropathy phenotype typically manifests as an infantile-onset neurodegenerative disorder, starting as a severe peripheral motor and sensory neuropathy and evolving into central nervous system impairment (intellectual disability, seizures, cerebellar signs, and pyramidal tract signs). Most affected individuals become wheelchair dependent in the second decade of life and eventually bedridden with severe polyneuropathy, ataxia, and dementia. Death usually occurs in the third decade. At the milder end of the spectrum are predominantly motor and sensory neuropathies (with little to no CNS involvement) that overlap with the axonal form of Charcot-Marie-Tooth neuropathies.|GeneReviews|N|
C1850395|This syndrome is characterized by the association of an axonal sensory and autonomic neuropathy with spastic paraplegia.|ORDO|N|
C1850406|MPV17-related mitochondrial DNA (mtDNA) maintenance defect presents in the vast majority of affected individuals as an early-onset encephalohepatopathic (hepatocerebral) disease that is typically associated with mtDNA depletion, particularly in the liver. A later-onset neuromyopathic disease characterized by myopathy and neuropathy, and associated with multiple mtDNA deletions in muscle, has also rarely been described. MPV17-related mtDNA maintenance defect, encephalohepatopathic form is characterized by: Hepatic manifestations (liver dysfunction that typically progresses to liver failure, cholestasis, hepatomegaly, and steatosis); Neurologic involvement (developmental delay, hypotonia, microcephaly, and motor and sensory peripheral neuropathy); Gastrointestinal manifestations (gastrointestinal dysmotility, feeding difficulties, and failure to thrive); and Metabolic derangements (lactic acidosis and hypoglycemia). Less frequent manifestations include renal tubulopathy, nephrocalcinosis, and hypoparathyroidism. Progressive liver disease often leads to death in infancy or early childhood. Hepatocellular carcinoma has been reported.|GeneReviews|N|
C1850413|Repeated occurrences of acute noninflammatory encephalopathy and fatty degenerative liver failure.|HPO|N|
C1850415|A form of hepatic steatosis characterized by the presence of small, lipid-laden vesicles in the affected hepatocytes.|HPO|N|
C1850442|The neuronal ceroid lipofuscinoses (NCL; CLN) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally. The lipopigment patterns observed most often in CLN5 comprise mixed combinations of 'granular,' 'curvilinear,' and 'fingerprint' profiles. The clinical course includes progressive dementia, seizures, and progressive visual failure (Mole et al., 2005).
For a general phenotypic description and a discussion of genetic heterogeneity of CLN, see CLN1 (256730).|OMIM|N|
C1850447|An intracellular accumulation of autofluorescent lipopigment storage material in a straight or rectilinear pattern.|HPO|N|
C1850451|The neuronal ceroid lipofuscinoses (NCL; CLN) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally. The lipopigment pattern seen most often in CLN1 is referred to as granular osmiophilic deposits (GROD). The patterns most often observed in CLN2 and CLN3 are 'curvilinear' and 'fingerprint' profiles, respectively. CLN4, CLN5, CLN6, CLN7, and CLN8 show mixed combinations of granular, curvilinear, fingerprint, and rectilinear profiles. The clinical course includes progressive dementia, seizures, and progressive visual failure (Mole et al., 2005).
Zeman and Dyken (1969) referred to these conditions as the 'neuronal ceroid lipofuscinoses.' Goebel (1995) provided a comprehensive review of the NCLs and noted that they are possibly the most common group of neurodegenerative diseases in children.
Mole et al. (2005) provided a detailed clinical and genetic review of the neuronal ceroid lipofuscinoses.
Genetic Heterogeneity of Neuronal Ceroid Lipofuscinosis
See also CLN2 (204500), caused by mutation in the TPP1 gene (607998) on chromosome 11p15; CLN3 (204200), caused by mutation in the CLN3 gene (607042) on 16p12; CLN4 (162350), caused by mutation in the DNAJC5 gene (611203) on 20q13; CLN5 (256731), caused by mutation in the CLN5 gene (608102) on 13q22; CLN6A (601780) and CLN6B (204300), both caused by mutation in the CLN6 gene (606725) on 15q21; CLN7 (610951), caused by mutation in the MFSD8 gene (611124) on 4q28; CLN8 (600143) and the Northern epilepsy variant of CLN8 (610003), both caused by mutation in the CLN8 gene (607837) on 8p23; CLN10 (610127), caused by mutation in the CTSD gene (116840) on 11p15; CLN11 (614706), caused by mutation in the GRN gene (138945) on 17q21; CLN13 (615362), caused by mutation in the CTSF gene (603539) on 11q13; and CLN14 (611726), caused by mutation in the KCTD7 gene (611725) on 7q11.
CLN9 (609055) has not been molecularly characterized.
A disorder that was formerly designated neuronal ceroid lipofuscinosis-12 (CLN12) is now considered to be a variable form of Kufor-Rakeb syndrome (KRS; 606693).|OMIM|N|
C1850456|Progressive microcephaly is diagnosed when the head circumference falls progressively behind age- and gender-dependent norms.|HPO|N|
C1850534|Generalized abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body.|HPO|N|
C1850544|Dehydration resulting from abnormally high levels of sodium in the blood. Infants and individuals that are intubated are at highest risk.|NCI|N|
C1850552|A rare, genetic, multiple congenital anomalies syndrome characterized by urinary tract anomalies, nephrosis, conductive deafness, and digital malformations, including short and bifid distal phalanges of thumbs and big toes. There have been no further descriptions in the literature since 1962.|ORDO|N|
C1850553|A rare syndromic deafness characterized by renal failure without hematuria, parathyroid hyperplasia and sensorineural deafness. There have been no further reports since 1989.|ORDO|N|
C1850554|Clinical features of atelosteogenesis type 2 (AO2) include rhizomelic limb shortening with normal-sized skull, hitchhiker thumbs, small chest, protuberant abdomen, cleft palate, and distinctive facial features (midface retrusion, depressed nasal bridge, epicanthus, micrognathia). Other typical findings are ulnar deviation of the fingers, gap between the first and second toes, and clubfoot. AO2 is usually lethal at birth or shortly thereafter due to pulmonary hypoplasia and tracheobronchomalacia. However, it exists in a continuous phenotypic spectrum with diastrophic dysplasia, and long-term survivors have been reported.|GeneReviews|N|
C1850568|A rare, autosomal recessive autoinflammatory disorder characterized by early-onset erythematous popular/nodular skin eruptions, recurrent fever, possible joint contractures, lipodystrophy, erythematous inflammatory skin changes, joint and muscle involvement (joint contractures, arthralgia, muscle weakness), and hepatosplenomegaly.|ORDO|N|
C1850569|Nemaline myopathy-2 (NEM2) is an autosomal recessive skeletal muscle disorder with a wide range of severity. The most common clinical presentation is early-onset (in infancy or childhood) muscle weakness predominantly affecting proximal limb muscles. Muscle biopsy shows accumulation of Z-disc and thin filament proteins into aggregates named 'nemaline bodies' or 'nemaline rods,' usually accompanied by disorganization of the muscle Z discs. The clinical and histologic spectrum of entities caused by variants in the NEB gene is a continuum, ranging in severity. The distribution of weakness can vary from generalized muscle weakness, more pronounced in proximal limb muscles, to distal-only involvement, although neck flexor weakness appears to be rather consistent. Histologic patterns range from a severe usually nondystrophic disturbance of the myofibrillar pattern to an almost normal pattern, with or without nemaline bodies, sometimes combined with cores (summary by Lehtokari et al., 2014).
Genetic Heterogeneity of Nemaline Myopathy
See also NEM1 (255310), caused by mutation in the tropomyosin-3 gene (TPM3; 191030) on chromosome 1q22; NEM3 (161800), caused by mutation in the alpha-actin-1 gene (ACTA1; 102610) on chromosome 1q42; NEM4 (609285), caused by mutation in the beta-tropomyosin gene (TPM2; 190990) on chromosome 9p13; NEM5A (605355), also known as Amish nemaline myopathy, NEM5B (620386), and NEM5C (620389), all caused by mutation in the troponin T1 gene (TNNT1; 191041) on chromosome 19q13; NEM6 (609273), caused by mutation in the KBTBD13 gene (613727) on chromosome 15q22; NEM7 (610687), caused by mutation in the cofilin-2 gene (CFL2; 601443) on chromosome 14q13; NEM8 (615348), caused by mutation in the KLHL40 gene (615340), on chromosome 3p22; NEM9 (615731), caused by mutation in the KLHL41 gene (607701) on chromosome 2q31; NEM10 (616165), caused by mutation in the LMOD3 gene (616112) on chromosome 3p14; and NEM11 (617336), caused by mutation in the MYPN gene (608517) on chromosome 10q21. Several of the genes encode components of skeletal muscle sarcomeric thin filaments (Sanoudou and Beggs, 2001).
Mutations in the NEB gene are the most common cause of nemaline myopathy (Lehtokari et al., 2006).|OMIM|N|
C1850573|Asthenic habitus refers to a slender build with long limbs, an angular profile, and prominent muscles or bones.|HPO|N|
C1850601|An anomaly of the brainstem.|HPO|N|
C1850625|STAC3 disorder is characterized by congenital myopathy, musculoskeletal involvement of the trunk and extremities, feeding difficulties, and delayed motor milestones. Most affected individuals have weakness with myopathic facies, scoliosis, kyphosis or kyphoscoliosis, and contractures. Other common findings are ptosis, abnormalities of the palate (including cleft palate), and short stature. Risk for malignant hyperthermia susceptibility and restrictive lung disease are increased. Intellect is typically normal. Originally described in individuals from the Lumbee Native American tribe (an admixture of Cheraw Indian, English, and African American ancestry) in the state of North Carolina and reported as Native American myopathy, STAC3 disorder has now been identified in numerous other populations worldwide.|GeneReviews|N|
C1850626|Nathalie syndrome has characteristics of deafness, cataract, muscular atrophy, skeletal abnormalities, growth retardation, underdeveloped secondary sexual characteristics and electrocardiographic abnormalities. It has been described in a Dutch family: in three sisters (one named Nathalie) and their brother.|SNOMEDCT_US|N|
C1850627|Keipert syndrome (KPTS) is characterized by craniofacial and digital abnormalities and variable learning difficulties. The distinctive facial appearance includes broad forehead, hypertelorism, prominent nose, wide mouth, and prominent upper lip with cupid bow configuration. Digital anomalies are also distinctive, with widening of all distal phalanges, particularly of the thumbs and great toes (Amor et al., 2019).|OMIM|N|
C1850629|More pronounced paramedian peaks and median notch of the Cupid's bow.|HPO|N|
C1850630|Abnormally wide (broad) distal phalanx of finger.|HPO|N|
C1850631|Short third metacarpal bone.|HPO|N|
C1850642|An abnormal flattening of an epiphysis of femur.|HPO|N|
C1850644|An abnormal anterior curvature of a long bone.|HPO|N|
C1850663|Muscle hypertrophy primarily affecting the legs.|HPO|N|
C1850671|Collagen VI-related dystrophies (COL6-RDs) represent a continuum of overlapping clinical phenotypes with Bethlem muscular dystrophy at the milder end, Ullrich congenital muscular dystrophy (UCMD) at the more severe end, and a phenotype in between UCMD and Bethlem muscular dystrophy, referred to as intermediate COL6-RD. Bethlem muscular dystrophy is characterized by a combination of proximal muscle weakness and joint contractures. Hypotonia and delayed motor milestones occur in early childhood; mild hypotonia and weakness may be present congenitally. By adulthood, there is evidence of proximal weakness and contractures of the elbows, Achilles tendons, and long finger flexors. The progression of weakness is slow, and more than two thirds of affected individuals older than age 50 years remain independently ambulatory indoors, while relying on supportive means for mobility outdoors. Respiratory involvement is not a consistent feature. UCMD is characterized by congenital weakness, hypotonia, proximal joint contractures, and striking hyperlaxity of distal joints. Decreased fetal movements are frequently reported. Some affected children acquire the ability to walk independently; however, progression of the disease results in a loss of ambulation by age ten to eleven years. Early and severe respiratory insufficiency occurs in all individuals, resulting in the need for nocturnal noninvasive ventilation (NIV) in the form of bilevel positive airway pressure (BiPAP) by age 11 years. Intermediate COL6-RD is characterized by independent ambulation past age 11 years and respiratory insufficiency that is later in onset than in UCMD and results in the need for NIV in the form of BiPAP by the late teens to early 20s. In contrast to individuals with Bethlem muscular dystrophy, those with intermediate COL6-RD typically do not achieve the ability to run, jump, or climb stairs without use of a railing.|GeneReviews|N|
C1850674|Congenital myopathy-1B (CMYP1B) is an autosomal recessive disorder of skeletal muscle characterized by severe hypotonia and generalized muscle weakness apparent soon after birth or in early childhood with delayed motor development, generalized muscle weakness and atrophy, and difficulty walking or running. Affected individuals show proximal muscle weakness with axial and shoulder girdle involvement, external ophthalmoplegia, and bulbar weakness, often resulting in feeding difficulties and respiratory insufficiency. Orthopedic complications such as joint laxity, distal contractures, hip dislocation, cleft palate, and scoliosis are commonly observed. Serum creatine kinase is normal. The phenotype is variable in severity (Jungbluth et al., 2005; Bharucha-Goebel et al., 2013). Some patients show symptoms in utero, including reduced fetal movements, polyhydramnios, and intrauterine growth restriction. The most severely affected patients present in utero with fetal akinesia, arthrogryposis, and lung hypoplasia resulting in fetal or perinatal death (McKie et al., 2014). Skeletal muscle biopsy of patients with recessive RYR1 mutations can show variable features, including multiminicores (Ferreiro and Fardeau, 2002), central cores (Jungbluth et al., 2002), congenital fiber-type disproportion (CFTD) (Monnier et al., 2009), and centronuclear myopathy (Wilmshurst et al., 2010).
For a discussion of genetic heterogeneity of congenital myopathy, see CMYP1A (117000).|OMIM|N|
C1850709|Autosomal recessive myosin storage congenital myopathy-7B (CMYP7B) is a skeletal muscle disorder characterized by the onset of scapuloperoneal muscle weakness in early childhood or young adulthood. Affected individuals have difficulty walking, steppage gait, and scapular winging due to shoulder girdle involvement. The severity and progression of the disorder is highly variable, even within families. Most patients develop respiratory insufficiency, nocturnal hypoventilation, and restrictive lung disease; some develop hypertrophic cardiomyopathy. Additional features include myopathic facies, high-arched palate, scoliosis, and muscle wasting with thin body habitus. Serum creatine kinase may be normal or elevated. Skeletal muscle biopsy shows variable findings, including myosin storage disease, type 1 fiber predominance, centralized nuclei, and multiminicore disease (Onengut et al., 2004; Tajsharghi et al., 2007; Beecroft et al., 2019).
For a discussion of genetic heterogeneity of congenital myopathy, see CMYP1A (117000).|OMIM|N|
C1850718|Hereditary myopathy with lactic acidosis (HML) is an autosomal recessive muscular disorder characterized by childhood onset of exercise intolerance with muscle tenderness, cramping, dyspnea, and palpitations. Biochemical features include lactic acidosis and, rarely, rhabdomyolysis. It is a chronic disorder with remission and exacerbation of the muscle phenotype (summary by Sanaker et al., 2010).|OMIM|N|
C1850719|Recurrent episodes of brain dysfunction that may be triggered by factors such as metabolic disturbances or infections.|HPO|N|
C1850746|Carey-Fineman-Ziter (CFZ) syndrome is a rare condition characterized by the association of hypotonia, Moebius sequence (bilateral congenital facial palsy with impairment of ocular abduction), Pierre-Robin sequence (micrognathia, glossoptosis, and high-arched or cleft palate), unusual face, and growth delay.|ORDO|N|
C1850764|The Lafora type of progressive myoclonic epilepsy is an autosomal recessive disorder characterized by insidious onset of progressive neurodegeneration between 8 and 18 years of age. Initial features can include headache, difficulties in school work, myoclonic jerks, generalized seizures, and often visual hallucination. The myoclonus, seizures, and hallucinations gradually worsen and become intractable. This is accompanied by progressive cognitive decline, resulting in dementia. About 10 years after onset, affected individuals are in near-continuous myoclonus with absence seizures, frequent generalized seizures, and profound dementia or a vegetative state. Histologic studies of multiple tissues, including brain, muscle, liver, and heart show intracellular Lafora bodies, which are dense accumulations of malformed and insoluble glycogen molecules, termed polyglucosans (review by Ramachandran et al., 2009). There is a slower progression of disease and later age at death in Lafora disease-2 than in Lafora disease-1 (MELF1, EPM2A; 254780); see Genotype/Phenotype Correlations.
Myoclonic epilepsy of Lafora-1 is caused by mutation in the EPM2A gene (608072), which encodes laforin, on chromosome 6q24.
For a discussion of genetic heterogeneity of progressive myoclonic epilepsy, see EPM1A (254800).|OMIM|N|
C1850778|Juvenile myoclonic epilepsy (EJM, JME) is a subtype of idiopathic generalized epilepsy (EIG; see 600669), affecting up to 26% of all individuals with EIG. Individuals with EJM have afebrile seizures only, with onset in adolescence of myoclonic jerks. Myoclonic jerks usually occur in the morning (Janz and Durner, 1997).
Genetic Heterogeneity of Juvenile Myoclonic Seizures
Susceptibility to EJM can be conferred by variation in several other genes: EJM5 (611136), by variation in the GABRA1 gene (137160) on 5q34; EJM6 (see 607682), by variation in the CACNB4 gene (601949) on 2q23; EJM7 (see 613060), by variation in the GABRD gene (137163) on 1p36; EJM8 (see 607628), by variation in the CLCN2 gene (600570) on 3q27; and EJM10 (617924), by variation in the ICK gene (612325) on chromosome 6p12.
In addition, EJM loci have been identified by linkage analysis: EJM2 (see 604827) on 15q14, EJM3 (608816) on 6p21, EJM4 (611364) on 5q12-q14, and EJM9 (614280) on 2q33-q36.|OMIM|N|
C1850780|Decreased alkaline phosphatase measured within leukocytes.|HPO|N|
C1850792|Congenital myasthenic syndromes (CMS) are a group of inherited disorders affecting the neuromuscular junction (NMJ). Patients present clinically with onset of variable muscle weakness between infancy and adulthood. These disorders have been classified according to the location of the defect: presynaptic, synaptic, and postsynaptic. CMS10 is an autosomal recessive CMS resulting from a postsynaptic defect affecting endplate maintenance of the NMJ. Patients present with limb-girdle weakness in the first decade. Treatment with ephedrine or salbutamol may be beneficial; cholinesterase inhibitors should be avoided (summary by Engel et al., 2015).
For a discussion of genetic heterogeneity of CMS, see CMS1A (601462).|OMIM|N|
C1850794|Amyotrophy (muscular atrophy) affecting the proximal musculature.|HPO|N|
C1850830|The occurrence of an unusually high amount of muscle pain following exercise.|HPO|N|
C1850840|The clinical manifestations of LAMA2 muscular dystrophy (LAMA2-MD) comprise a continuous spectrum ranging from severe congenital muscular dystrophy type 1A (MDC1A) to milder late-onset LAMA2-MD. MDC1A is typically characterized by neonatal profound hypotonia, poor spontaneous movements, and respiratory failure. Failure to thrive, gastroesophageal reflux, aspiration, and recurrent chest infections necessitating frequent hospitalizations are common. As disease progresses, facial muscle weakness, temporomandibular joint contractures, and macroglossia may further impair feeding and can affect speech. In late-onset LAMA2-MD onset of manifestations range from early childhood to adulthood. Affected individuals may show muscle hypertrophy and develop a rigid spine syndrome with joint contractures, usually most prominent in the elbows. Progressive respiratory insufficiency, scoliosis, and cardiomyopathy can occur.|GeneReviews|N|
C1850848|Abnormal cell death involving muscle fibers usually associated with break in, or absence of, muscle surface fiber membrane and resulting in irreversible damage to muscle fibers.|HPO|N|
C1850851|Lack of stability of a distal joint (e.g., finger).|HPO|N|
C1850853|The ability of the wrist joints to move beyond their normal range of motion.|HPO|N|
C1850864|Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome is characterized by congenital muscular dystrophy, infantile cataract and hypogonadism. It has been described in seven individuals from an isolated Norwegian village and in one unrelated individual. Transmission appears to be autosomal recessive.|ORDO|N|
C1850889|Dysferlinopathy includes a spectrum of muscle disease characterized by two major phenotypes: Miyoshi muscular dystrophy (MMD) and limb-girdle muscular dystrophy type 2B (LGMD2B); and two minor phenotypes: asymptomatic hyperCKemia and distal myopathy with anterior tibial onset (DMAT). MMD (median age of onset 19 years) is characterized by muscle weakness and atrophy, most marked in the distal parts of the legs, especially the gastrocnemius and soleus muscles. Over a period of years, the weakness and atrophy spread to the thighs and gluteal muscles. The forearms may become mildly atrophic with decrease in grip strength; the small muscles of the hands are spared. LGMD2B is characterized by early weakness and atrophy of the pelvic and shoulder girdle muscles in adolescence or young adulthood, with slow progression. Other phenotypes in this spectrum are scapuloperoneal syndrome and congenital muscular dystrophy. Asymptomatic hyperCKemia is characterized by marked elevation of serum CK concentration only. DMAT is characterized by early and predominant distal muscle weakness, particularly of the muscles of the anterior compartment of the legs.|GeneReviews|N|
C1850899|A rare syndromic hyperpigmentation of the skin with characteristics of multiple lentigines and cafe-au-lait spots associated with hiatal hernia and peptic ulcer, hypertelorism and myopia. There have been no further descriptions in the literature since 1982.|SNOMEDCT_US|N|
C1850900|MALT (mucosa-associated lymphoid tissue) lymphoma is a rare form of malignant non-Hodgkin lymphoma (see this term) that affects B cells and grows at the expense of lymphoid tissue associated with mucous membranes, but also occurs, more rarely, in lymph nodes.|ORPHANET|N|
C1850938|Sorsby fundus dystrophy is an autosomal dominant retinal dystrophy characterized by the loss of central vision as a result of macular disease by the fourth to fifth decade and peripheral visual loss in late life (summary by Wijesuriya et al., 1996).|OMIM|N|
C1850959|Fuchs endothelial corneal dystrophy (FECD) is a progressive, bilateral condition characterized by dysfunction of the corneal epithelium, leading to reduced vision. The prevalence of FECD has been estimated at about 5% among persons over the age of 40 years in the United States. The vision loss in patients with FECD results from a loss of corneal transparency associated with irregularity of inner corneal layers in early disease and edema of the cornea in advanced disease. Ultrastructural features of FECD include loss and attenuation of endothelial cells, with thickening and excrescences of the underlying basement membrane. These excrescences, called guttae, are the clinical hallmark of FECD and become more numerous with progression of the disease. As the endothelial layer develops confluent guttae in the central cornea, the cells are no longer able to keep the cornea dehydrated and clear (summary by Baratz et al., 2010).
Genetic Heterogeneity of Fuchs Endothelial Corneal Dystrophy
More common, late-onset forms of FECD have been shown to be caused by mutation in the SLC4A11 gene (610206) on chromosome 20p13 (FECD4; 613268), in the ZEB1 gene (189909) on chromosome 10p11.2 (FECD6; 613270), and in the AGBL1 gene (615496) on chromosome 15q25 (FECD8; 615523).
Other loci for late-onset FECD have been identified on chromosomes 13pter-q12.13 (FECD2; 610158), 18q21.2-q21.32 (FECD3; 613267), 5q33.1-q35.2 (FECD5; 613269), and 9p (FECD7; 613271).|OMIM|N|
C1850968|Cleft palate of the midline of the palate.|HPO|N|
C1850970|Presence of a cutaneous lipoma on the forehead.|HPO|N|
C1850993|A rare macular disorder with characteristics mostly of a variable degree of decreased visual acuity, jerk or pendular nystagmus and typical ocular findings at imaging. The disease is usually bilateral. Rarely nystagmus can be absent. Locally the disease has characteristics of an underdeveloped foveal pit, absence of foveal pigmentation and/or foveal avascular zone and persistence of inner retinal layers at the fovea in absence of concomitant ocular or systemic pathology.|SNOMEDCT_US|N|
C1850996|A rare genetic neuro-ophthalmological disease with characteristics of congenital fourth cranial nerve palsy, manifesting with hypertropia in side gaze, unexplained head tilt, acquired vertical diplopia and progressive increase in vertical fusional vergence amplitudes with prolonged occlusion. Facial asymmetry (for example hemifacial retrusion, upward slanting of mouth on the side of the head tilt, mild enophthalmos of paretic eye) and superior oblique tendon abnormalities (such as absence, redundance, misdirection) are frequently associated. Some asymptomatic cases have been reported.|SNOMEDCT_US|N|
C1851009|The occurrence of multiple or unique whitish or normal in color small papules or nodules in oral cavity, especially on labial and buccal mucosa, lower lip and tongue, and less often on the upper lip, gingiva and palate.|HPO|N|
C1851059|Increased width of the columella.|HPO|N|
C1851081|A rare disorder characterized by intrauterine growth retardation and intermittent locking of the finger joints. It has been described in two individuals: a mother and her daughter. The mode of transmission is autosomal dominant.|ORDO|N|
C1851085|A severe delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts.|HPO|N|
C1851087|Absence of the anterior commissure.|HPO|N|
C1851095|Abnormally increased hair growth in the lumbosacral region.|HPO|N|
C1851100|Laurin-Sandrow syndrome (LSS) is an autosomal dominant disorder characterized by polysyndactyly of hands and feet, mirror image duplication of feet, and nasal defects (hypoplastic alae nasi, short columella), in connection with absent patella and duplicated fibula (summary by Lohan et al., 2014).|OMIM|N|
C1851102|Congenital fibrosis of the extraocular muscles (CFEOM) encompasses several different inherited strabismus syndromes characterized by congenital restrictive ophthalmoplegia affecting extraocular muscles innervated by the oculomotor and/or trochlear nerves. Classic CFEOM is characterized by bilateral blepharoptosis and ophthalmoplegia with the eyes fixed in an infraducted position about 20 to 30 degrees below the horizontal midline. Involvement of the horizontal extraocular muscles is variable. If all affected members of a family have the classic phenotype with bilateral involvement, the disorder is referred to as 'CFEOM1' (Engle et al., 1997; Heidary et al., 2008).
CFEOM2 (602078), an autosomal recessive disorder caused by mutation in the ARIX gene (PHOX2A; 602753) on chromosome 11q13, is characterized by bilateral ptosis with eyes fixed in an exotropic position.
The CFEOM3 phenotype shows more variable clinical features: affected individuals may have unilateral eye involvement, may be able raise their eyes above midline, or may not have blepharoptosis. CFEOM3 is diagnosed in a family if even 1 member does not have classic findings of the disorder. CFEOM3 is a genetically heterogeneous disorder; CFEOM3A with or without extraocular involvement (600638) is caused by mutation in the TUBB3 gene (602661) on chromosome 16q24; CFEOM3B is caused by mutation in the KIF21A gene (608283) on chromosome 12q12; and CFEOM3C (609384) maps to chromosome 13q.
CFEOM4 (609428), also known as Tukel syndrome, maps to chromosome 21q.
CFEOM5 (616219) is caused by mutation in the COL25A1 gene (610004) on chromosome 4q25.
See also NOMENCLATURE.|OMIM|N|
C1851107|Atrophy of the levator palpebrae superioris, the extraocular muscle that elevates the superior eyelid.|HPO|N|
C1851108|Atrophy of the superior rectus, the extraocular muscle whose primary function is to elevate the globe.|HPO|N|
C1851112|This syndrome has characteristics of gingival fibromatosis associated with progressive sensorineural hearing loss. It has been described in two families (with at least 16 affected members spanning five generations in one of the families and five affected members spanning three generations in the other family). It is transmitted as an autosomal dominant trait.|SNOMEDCT_US|N|
C1851120|Extreme hirsutism with gingival fibromatosis follows a dominant pattern of inheritance (Weski, 1920; Garn and Hatch, 1950). There is no necessary relationship between the age of development of the gingival changes and the hypertrichosis. The latter may be present at birth but often appears at puberty (Anderson et al., 1969).
For a discussion of genetic heterogeneity of congenital generalized hypertrichosis, see HTC1 (145701).|OMIM|N|
C1851124|APC-associated polyposis conditions include (classic or attenuated) familial adenomatous polyposis (FAP) and gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS). FAP is a colorectal cancer (CRC) predisposition syndrome that can manifest in either classic or attenuated form. Classic FAP is characterized by hundreds to thousands of adenomatous colonic polyps, beginning on average at age 16 years (range 7-36 years). For those with the classic form of FAP, 95% of individuals have polyps by age 35 years; CRC is inevitable without colectomy. The mean age of CRC diagnosis in untreated individuals is 39 years (range 34-43 years). The attenuated form is characterized by multiple colonic polyps (average of 30), more proximally located polyps, and a diagnosis of CRC at a later age than in classic FAP. For those with an attenuated form, there is a 70% lifetime risk of CRC and the mean age of diagnosis is 50-55 years. Extracolonic manifestations are variably present and include polyps of the stomach and duodenum, osteomas, dental abnormalities, congenital hypertrophy of the retinal pigment epithelium (CHRPE), benign cutaneous lesions, desmoid tumors, adrenal masses, and other associated cancers. GAPPS is characterized by proximal gastric polyposis, increased risk of gastric adenocarcinoma, and no duodenal or colonic involvement in most individuals reported.|GeneReviews|N|
C1851130|Reduced size of cervical vertebrae.|HPO|N|
C1851286|Isolated ectopia lentis (IEL) is a rare, clinically variable, eye disorder characterized by dislocation of the lens, often causing significant reduction in visual acuity.|ORDO|N|
C1851303|An abnormality of the renal collecting system.|HPO|N|
C1851310|Absence or underdevelopment of the femur.|HPO|N|
C1851313|A limitation of the range of movement of the shoulder joint.|HPO|N|
C1851316|A rare disorder of iron metabolism and transport characterised by elevated serum ferritin levels, increased serum iron, increased transferrin saturation and heavy iron deposition in hepatocytes. Iron deposition has also been indicated in heart and bone marrow, while haematological examination of peripheral blood shows no abnormalities.|SNOMEDCT_US|N|
C1851347|Familial Mediterranean fever (FMF) is divided into two phenotypes: type 1 and type 2. FMF type 1 is characterized by recurrent short episodes of inflammation and serositis including fever, peritonitis, synovitis, pleuritis, and, rarely, pericarditis and meningitis. The symptoms and severity vary among affected individuals, sometimes even among members of the same family. Amyloidosis, which can lead to renal failure, is the most severe complication, if untreated. FMF type 2 is characterized by amyloidosis as the first clinical manifestation of FMF in an otherwise asymptomatic individual.|GeneReviews|N|
C1851399|A rare peripheral neuropathy with characteristics of acute onset of unilateral facial muscle weakness with Bell''s phenomenon. It is non-progressive, resolves spontaneously and it might be recurrent with no obvious precipitating factors.|SNOMEDCT_US|N|
C1851400|Excessive, increased hair growth located in the facial region.|HPO|N|
C1851402|Familial exudative vitreoretinopathy (FEVR) is an inherited disorder characterized by the incomplete development of the retinal vasculature. Its clinical appearance varies considerably, even within families, with severely affected patients often registered as blind during infancy, whereas mildly affected patients with few or no visual problems may have such a small area of avascularity in their peripheral retina that it is visible only by fluorescein angiography. It is believed that this peripheral avascularity is the primary anomaly in FEVR and results from defective retinal angiogenesis. The sight-threatening features of the FEVR phenotype are considered secondary to retinal avascularity and develop because of the resulting retinal ischemia; they include the development of hyperpermeable blood vessels, neovascularization, vitreoretinal traction, retinal folds, and retinal detachments (summary by Poulter et al., 2010).
In 31 Chinese pedigrees clinically diagnosed with FEVR, Rao et al. (2017) analyzed 6 FEVR-associated genes and identified mutations in 12 of the probands, including 5 (16.1%) in LRP5, 3 (9.7%) in NDP, 2 (6.5%) in FZD4, and 1 (3.2%) in TSPAN12. In addition, a mutation in the KIF11 gene (148760) was identified in a patient who also exhibited microcephaly (MCLMR; 152950). The authors noted that their detection rate did not exceed 50%, suggesting that other FEVR-associated genes remained to be discovered.
Genetic Heterogeneity of Familial Exudative Vitreoretinopathy
Also see EVR2 (305390), caused by mutation in the NDP gene (300658) on chromosome Xp11; EVR3 (605750), mapped to 11p13-p12; EVR4 (601813), caused by mutations in the LRP5 gene (603506) on 11q13.4; EVR5 (613310), caused by mutation in the TSPAN12 gene (613138) on 7q31; EVR6 (616468), caused by mutation in the ZNF408 gene (616454) on 11p11; and EVR7 (617572), caused by mutation in the CTNNB1 gene (116806) on chromosome 3p22.|OMIM|N|
C1851412|Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome is a rare, genetic, malformation syndrome with short stature characterized by microcephaly, borderline intellectual disability, hyperpigmentation of the skin, short stature, and ventricular extrasystoles. Cardiac syncope may also be associated. There have been no further descriptions in the literature since 1975.|ORDO|N|
C1851413|Hereditary multiple osteochondromas (HMO), previously called hereditary multiple exostoses (HME), is characterized by growths of multiple osteochondromas, benign cartilage-capped bone tumors that grow outward from the metaphyses of long bones. Osteochondromas can be associated with a reduction in skeletal growth, bony deformity, restricted joint motion, shortened stature, premature osteoarthrosis, and compression of peripheral nerves. The median age of diagnosis is three years; nearly all affected individuals are diagnosed by age 12 years. The risk for malignant degeneration to osteochondrosarcoma increases with age, although the lifetime risk for malignant degeneration is low (~2%-5%).|GeneReviews|N|
C1851415|The presence of multiple exostoses on the scapula. An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage.|HPO|N|
C1851418|The presence of multiple protuberances (bulges, or knobs) at the ends of the long bones.|HPO|N|
C1851428|An association reported in a single kindred characterized by the variable presence of the following features: anetodermia (macular atrophy of the skin), multiple exostoses, and brachydactyly type E. There have been no further descriptions in the literature since 1985.|ORDO|N|
C1851443|Cerebrooculofacioskeletal syndrome is a severe, progressive neurologic disorder characterized by prenatal onset of arthrogryposis, microcephaly, and growth failure. Postnatal features include severe developmental delay, congenital cataracts (in some), and marked UV sensitivity of the skin. Survival beyond 6 years of age is rare. COFS represents the severe end of the spectrum of disorders caused by mutations in nucleotide excision repair (NER) genes, with Cockayne syndrome and xeroderma pigmentosum being milder NER-related phenotypes (summary by Drury et al., 2014).
For a phenotypic description and a discussion of genetic heterogeneity of cerebrooculofacioskeletal syndrome, see COFS1 (214150).|OMIM|N|
C1851480|A rare, isolated, diffuse palmoplantar keratoderma disorder characterized by red-yellow, moderate to severe hyperkeratosis of the palms and soles, extending to the dorsal aspects of the hands, feet and/or wrists and involving the skin over the Achilles' tendon (transgrediens), gradually worsening with age (progrediens) to include patchy hyperkeratosis over the shins, knees, elbows and, sometimes, skin flexures. Hyperhidrosis is usually associated. Histologically, either epidermolytic or nonepidermolytic changes may be seen.|ORDO|N|
C1851481|Spinocerebellar ataxia-34 is an autosomal dominant disorder characterized by slowly progressive cerebellar ataxia. The age at onset is usually during the young adult years, and most patients remain ambulatory until late in life. One family with SCA34 also had onset of erythema and hyperkeratosis in early childhood (Cadieux-Dion et al., 2014), whereas other families have additional neurologic signs, including ocular movement disturbances and pyramidal tract signs (Ozaki et al., 2015).
For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (164400).|OMIM|N|
C1851502|Erythema palmare hereditarium is a benign condition that was first described by Lane (1929). Erythema usually presents at birth and remains stable throughout life. Histology shows dilated vessels in the entire dermis with inflammatory infiltrate. Capillaroscopy reveals an increased number of capillary loops running parallel to the surface (summary by Kluger and Guillot, 2010).|OMIM|N|
C1851504|Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the MYH11 gene.|MONDO|N|
C1851526|CYLD cutaneous syndrome (CCS) typically manifests in the second or third decade with the appearance of multiple skin tumors including cylindromas, spiradenomas, trichoepitheliomas, and rarely, membranous basal cell adenoma of the salivary gland. The first tumor typically develops at puberty and tumors progressively accumulate through adulthood. Females often have more tumors than males. Tumors typically arise on the scalp and face but can also arise on the torso and sun-protected sites, such as the genital and axillary skin. A minority of individuals develop salivary gland tumors. Rarely, pulmonary cylindromas can develop in large airways and compromise breathing. Although the tumors are usually benign, malignant transformation is recognized.|GeneReviews|N|
C1851536|A rare primary bone dysplasia characterized by the association of multiple epiphyseal dysplasia, visual impairment (with early-onset progressive myopia, retinal thinning, and cataracts), and conductive hearing loss. Patients are of short stature and present brachydactyly, genu valgus deformity, and joint pain.|ORDO|N|
C1851537|A severe bone dysplasia in which osteopathia striata is associated with cranial sclerosis, dysmorphic facies, cleft palate, deafness, heart defects, and vertebral anomalies with variability of expression. Neurological findings range from normal development to psychomotor retardation and hydrocephalus.|JABL|N|
C1851542|A decreased ability to move the femur at the hip joint associated with a decreased range of motion of the hip.|HPO|N|
C1851549|A rare genetic neurological disorder with characteristics of visual seizures and occipital epileptiform paroxysms reactive to ocular opening which present in infancy to mid-adolescence. Vomiting, tonic eye deviation and impairment of consciousness are typically associated with the Panayiotopoulos type, while visual hallucinations, ictal blindness and post-ictal headache are commonly observed in the Gastaut type. Electroencephalographic findings in both types are similar and include bilateral, synchronous, high voltage spike-wave complexes in a normal background activity located predominantly in the occipital lobes.|SNOMEDCT_US|N|
C1851573|Dystrophic epidermolysis bullosa (DEB) is a genetic skin disorder affecting skin and nails that usually presents at birth. DEB is divided into two major types depending on inheritance pattern: recessive dystrophic epidermolysis bullosa (RDEB) and dominant dystrophic epidermolysis bullosa (DDEB). Each type is further divided into multiple clinical subtypes. Absence of a known family history of DEB does not preclude the diagnosis. Clinical findings in severe generalized RDEB include skin fragility manifest by blistering with minimal trauma that heals with milia and scarring. Blistering and erosions affecting the whole body may be present in the neonatal period. Oral involvement may lead to mouth blistering, fusion of the tongue to the floor of the mouth, and progressive diminution of the size of the oral cavity. Esophageal erosions can lead to webs and strictures that can cause severe dysphagia. Consequently, malnutrition and vitamin and mineral deficiency may lead to growth restriction in young children. Corneal erosions can lead to scarring and loss of vision. Blistering of the hands and feet followed by scarring fuses the digits into "mitten" hands and feet, with contractures and pseudosyndactyly. The lifetime risk of aggressive squamous cell carcinoma is higher than 90%. In contrast, the blistering in the less severe forms of RDEB may be localized to hands, feet, knees, and elbows with or without involvement of flexural areas and the trunk, and without the mutilating scarring seen in severe generalized RDEB. In DDEB, blistering is often mild and limited to hands, feet, knees, and elbows, but nonetheless heals with scarring. Dystrophic nails, especially toenails, are common and may be the only manifestation of DDEB.|GeneReviews|N|
C1851584|An ependymoma that arises from the central nervous system and occurs during childhood.|NCI|N|
C1851585|PDGFRB-associated chronic eosinophilic leukemia is a type of cancer of blood-forming cells. It is characterized by an elevated number of white blood cells called eosinophils in the blood. These cells help fight infections by certain parasites and are involved in the inflammation associated with allergic reactions. However, these circumstances do not account for the increased number of eosinophils in PDGFRB-associated chronic eosinophilic leukemia. Some people with this condition have an increased number of other types of white blood cells, such as neutrophils or mast cells, in addition to eosinophils. People with this condition can have an enlarged spleen (splenomegaly) or enlarged liver (hepatomegaly). Some affected individuals develop skin rashes, likely as a result of an abnormal immune response due to the increased number of eosinophils.|MedlinePlus Genetics|N|
C1851586|Abnormally low level of eosinophils in the blood.|NCI|N|
C1851612|A reduction in diameter and volume of the central cavity of bone where red or yellow bone marrow is located.|HPO|N|
C1851697|The presence of an adenoma of the pancreas with origin in a pancreatic B cell.|HPO|N|
C1851708|A rare genetic neurological disorder with characteristics of infantile or childhood onset of recurrent acute encephalopathic episodes with cerebellar and extrapyramidal involvement following febrile illnesses. During the episodes, patients typically show sudden onset of truncal ataxia, occasionally accompanied by lethargy and impairment of speech, as well as choreic and athetoid movements, seizures, loss of deep tendon reflexes and presence of pathological reflexes. Episodes last from day to weeks and may leave residual symptoms such as speech impairment and poor coordination.|SNOMEDCT_US|N|
C1851710|NOTCH3-related lateral meningocele syndrome (LMS) is characterized by multiple lateral spinal meningoceles (protrusions of the arachnoid and dura through spinal foramina), distinctive facial features, joint hyperextensibility, hypotonia, and skeletal, cardiac, and urogenital anomalies. Neurologic sequelæ of the meningoceles depend on size and location and can include neurogenic bladder, paresthesia, back pain, and/or paraparesis. Other neurologic findings can include Chiari I malformation, syringomyelia, and rarely, hydrocephalus. Additional findings of LMS include developmental delay, mixed or conductive hearing loss, and cleft palate. Skeletal abnormalities may include scoliosis, vertebral fusion, scalloping of vertebrae, and wormian bones. Infants may demonstrate feeding difficulties with poor weight gain.|GeneReviews|N|
C1851712|A widening or ballooning of the dural sac surrounding the spinal cord usually at the lumbosacral level.|HPO|N|
C1851714|Increased bone density of the skull base without significant changes in bony contour.|HPO|N|
C1851720|The presence of large polyhedral cells with eosinophilic granular cytoplasm and enlarged nuclei in the adrenal cortex.|HPO|N|
C1851733|Hyperplasia of the pancreas.|HPO|N|
C1851741|Any hereditary elliptocytosis in which the cause of the disease is a mutation in the SPTA1 gene.|MONDO|N|
C1851759|This EEG variant is characterized by almost complete absence of alpha waves except, in some cases, for a few seconds after the eyes are closed and after hyperventilation (summary by Vogel and Motulsky, 1986).|OMIM|N|
C1851789|A reduced ability to heal cutaneous wounds.|HPO|N|
C1851792|Absence or underdevelopment of the ear lobes.|HPO|N|
C1851797|Cutis gyrata of palms and soles.|HPO|N|
C1851801|Ehlers-Danlos syndrome is a group of disorders that affect connective tissues supporting the skin, bones, blood vessels, and many other organs and tissues. Defects in connective tissues cause the signs and symptoms of these conditions, which range from mildly loose joints to life-threatening complications.\n\nThe various forms of Ehlers-Danlos syndrome have been classified in several different ways. Originally, 11 forms of Ehlers-Danlos syndrome were named using Roman numerals to indicate the types (type I, type II, and so on). In 1997, researchers proposed a simpler classification (the Villefranche nomenclature) that reduced the number of types to six and gave them descriptive names based on their major features. In 2017, the classification was updated to include rare forms of Ehlers-Danlos syndrome that were identified more recently. The 2017 classification describes 13 types of Ehlers-Danlos syndrome.\n\nAn unusually large range of joint movement (hypermobility) occurs in most forms of Ehlers-Danlos syndrome, and it is a hallmark feature of the hypermobile type. Infants and children with hypermobility often have weak muscle tone (hypotonia), which can delay the development of motor skills such as sitting, standing, and walking. The loose joints are unstable and prone to dislocation and chronic pain. In the arthrochalasia type of Ehlers-Danlos syndrome, infants have hypermobility and dislocations of both hips at birth.\n\nMany people with the Ehlers-Danlos syndromes have soft, velvety skin that is highly stretchy (elastic) and fragile. Affected individuals tend to bruise easily, and some types of the condition also cause abnormal scarring. People with the classical form of Ehlers-Danlos syndrome experience wounds that split open with little bleeding and leave scars that widen over time to create characteristic "cigarette paper" scars. The dermatosparaxis type of the disorder is characterized by loose skin that sags and wrinkles, and extra (redundant) folds of skin may be present.\n\nOther types of Ehlers-Danlos syndrome have additional signs and symptoms. The cardiac-valvular type causes severe problems with the valves that control the movement of blood through the heart. People with the kyphoscoliotic type experience severe curvature of the spine that worsens over time and can interfere with breathing by restricting lung expansion. A type of Ehlers-Danlos syndrome called brittle cornea syndrome is characterized by thinness of the clear covering of the eye (the cornea) and other eye abnormalities. The spondylodysplastic type features short stature and skeletal abnormalities such as abnormally curved (bowed) limbs. Abnormalities of muscles, including hypotonia and permanently bent joints (contractures), are among the characteristic signs of the musculocontractural and myopathic forms of Ehlers-Danlos syndrome. The periodontal type causes abnormalities of the teeth and gums.\n\nBleeding problems are common in the vascular type of Ehlers-Danlos syndrome and are caused by unpredictable tearing (rupture) of blood vessels and organs. These complications can lead to easy bruising, internal bleeding, a hole in the wall of the intestine (intestinal perforation), or stroke. During pregnancy, women with vascular Ehlers-Danlos syndrome may experience rupture of the uterus. Additional forms of Ehlers-Danlos syndrome that involve rupture of the blood vessels include the kyphoscoliotic, classical, and classical-like types.|MedlinePlus Genetics|N|
C1851828|Thin (atrophic) and wide scars.|HPO|N|
C1851841|An EEC syndrome characterized by autosomal dominant inheritance that has material basis in variation in the chromosome region 7q11.2-q21.3.|MONDO|N|
C1851855|A developmental defect consisting in the duplication of the first metatarsal bone.|HPO|N|
C1851858|A form of ectodermal dysplasia with hair, teeth and nail involvement. The disease has predominant characteristics of hypodontia, hypotrichosis, delayed hair growth and brittle nails. Additionally focal dermal hypoplasia, irregular hyperpigmentation, hypoplastic or absent nipples, amastia, hearing impairment, congenital hip dislocation and asthma have been associated. There have been no further descriptions in the literature since 1996.|SNOMEDCT_US|N|
C1851878|The TP63-related disorders comprise six overlapping phenotypes: Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome (which includes Rapp-Hodgkin syndrome). Acro-dermo-ungual-lacrimal-tooth (ADULT) syndrome. Ectrodactyly, ectodermal dysplasia, cleft lip/palate syndrome 3 (EEC3). Limb-mammary syndrome. Split-hand/foot malformation type 4 (SHFM4). Isolated cleft lip/cleft palate (orofacial cleft 8). Individuals typically have varying combinations of ectodermal dysplasia (hypohidrosis, nail dysplasia, sparse hair, tooth abnormalities), cleft lip/palate, split-hand/foot malformation/syndactyly, lacrimal duct obstruction, hypopigmentation, hypoplastic breasts and/or nipples, and hypospadias. Findings associated with a single phenotype include ankyloblepharon filiforme adnatum (tissue strands that completely or partially fuse the upper and lower eyelids), skin erosions especially on the scalp associated with areas of scarring, and alopecia, trismus, and excessive freckling.|GeneReviews|N|
C1851885|Progressive loss of hair.|HPO|N|
C1851896|Thickened earlobes-conductive deafness syndrome is characterized by microtia with thickened ear lobes, micrognathia and conductive hearing loss due to congenital ossicular anomalies. It has been described in two families. The mode of inheritance is autosomal dominant.|ORDO|N|
C1851897|Sharply demarcated, typically linear and approximately horizontal, indentations in the outer surface of the ear lobe.|HPO|N|
C1851920|GTP cyclohydrolase 1-deficient dopa-responsive dystonia (GTPCH1-deficient DRD) is characterized by childhood-onset dystonia and a dramatic and sustained response to low doses of oral administration of levodopa. This disorder typically presents with gait disturbance caused by foot dystonia, later development of parkinsonism, and diurnal fluctuation of symptoms (aggravation of symptoms toward the evening and alleviation of symptoms in the morning after sleep). Initial symptoms are often gait difficulties attributable to flexion-inversion (equinovarus posture) of the foot. Occasionally, initial symptoms are arm dystonia, postural tremor of the hand, or slowness of movements. Brisk deep-tendon reflexes in the legs, ankle clonus, and/or the striatal toe (dystonic extension of the big toe) are present in many affected individuals. In general, gradual progression to generalized dystonia is observed. Intellectual, cerebellar, sensory, and autonomic disturbances generally do not occur.|GeneReviews|N|
C1851936|Episodes of choreoathetosis that can occur following triggers such as quick voluntary movements.|HPO|N|
C1851943|Dystonia-4, also known as whispering dysphonia, is an autosomal dominant neurologic disorder characterized by onset in the second to third decade of progressive laryngeal dysphonia followed by the involvement of other muscles, such as the neck or limbs. Some patients develop an ataxic gait (summary by Hersheson et al., 2013).|OMIM|N|
C1851945|DYT1 early-onset isolated dystonia typically presents in childhood or adolescence and only on occasion in adulthood. Dystonic muscle contractions causing posturing or irregular tremor of a leg or arm are the most common presenting findings. Dystonia is usually first apparent with specific actions such as writing or walking. Over time, the contractions frequently (but not invariably) become evident with less specific actions and spread to other body regions. No other neurologic abnormalities are present. Disease severity varies considerably even within the same family. Isolated writer's cramp may be the only sign.|GeneReviews|N|
C1851955|Kirner deformity, or dystelephalangy, is a rare malformation of the fifth finger that consists of radial bowing of the terminal phalanx, with the tip of the finger pointing toward the thenar eminence. The deformity is usually bilateral (summary by Temtamy and McKusick, 1978).|OMIM|N|
C1851956|Carpotarsal osteochondromatosis is a very rare primary bone dysplasia disorder with characteristics of abnormal bone proliferation and osteochondromas in the upper and lower limbs.|SNOMEDCT_US|N|
C1851959|Changes in one's level of awareness and responsiveness to their environment.|HPO|N|
C1851967|Dyslexia is a disorder manifested by difficulty learning to read despite conventional instruction, adequate intelligence, and sociocultural opportunity. It is among the most common neurodevelopmental disorders, with a prevalence of 5 to 12%. Although there is evidence for familial clustering and heritability, the disorder is considered a complex multifactorial trait (Schumacher et al., 2007).
Genetic Heterogeneity of Susceptibility to Dyslexia
Additional dyslexia susceptibility loci include DYX2 (600202) on chromosome 6p22, DYX3 (604254) on chromosome 2p16-p15, DYX5 (606896) on chromosome 3p12-q13, DYX6 (606616) on chromosome 18p11.2, DYX8 (608995) on chromosome 1p36-p34, and DYX9 (300509) on chromosome Xq27.3.
See MAPPING for other possible dyslexia susceptibility loci, including DYX4 and DYX7.|OMIM|N|
C1851972|Increased pigmentation of the skin with a netlike (reticular) pattern.|HPO|N|
C1851986|Dyschondrosteosis - nephritis is characterized by the association of short stature due to mesomelic shortening of the limbs and Madelung deformity (see this term), with hereditary nephritis.|ORDO|N|
C1851988|Partial dislocation of the ulna in the dorsal direction.|HPO|N|
C1852022|Calvarial doughnut lesions with bone fragility (CDL) is characterized by low bone mineral density, multiple spinal and peripheral fractures beginning in childhood, and sclerotic doughnut-shaped lesions in the cranial bones. Some more severely affected individuals exhibit neonatal onset of fractures, severe short stature, marked cranial sclerosis, and spondylometaphyseal dysplasia (CDLSMD) (Pekkinen et al., 2019).|OMIM|N|
C1852073|Short stature-valvular heart disease-characteristic facies syndrome is characterised by severe short stature with disproportionately short legs, small hands, clinodactyly, valvular heart disease and dysmorphism (ptosis, high-arched palate, abnormal dentition). It has been described in a mother and two daughters. This syndrome is probably transmitted as an autosomal dominant trait.|ORDO|N|
C1852092|Over many years, the chronic high blood glucose associated with diabetes may cause damage to blood vessels and nerves, leading to complications affecting many organs and tissues. The retina, which is the light-sensitive tissue at the back of the eye, can be damaged (diabetic retinopathy), leading to vision loss and eventual blindness. Kidney damage (diabetic nephropathy) may also occur and can lead to kidney failure and end-stage renal disease (ESRD). Pain, tingling, and loss of normal sensation (diabetic neuropathy) often occur, especially in the feet. Impaired circulation and absence of the normal sensations that prompt reaction to injury can result in permanent damage to the feet; in severe cases, the damage can lead to amputation. People with type 1 diabetes are also at increased risk of heart attacks, strokes, and problems with urinary and sexual function.\n\nUncontrolled type 1 diabetes can lead to a life-threatening complication called diabetic ketoacidosis. Without insulin, cells cannot take in glucose. A lack of glucose in cells prompts the liver to try to compensate by releasing more glucose into the blood, and blood glucose can become extremely high. The cells, unable to use the glucose in the blood for energy, respond by using fats instead. Breaking down fats to obtain energy produces waste products called ketones, which can build up to toxic levels in people with type 1 diabetes, resulting in diabetic ketoacidosis. Affected individuals may begin breathing rapidly; develop a fruity odor in the breath; and experience nausea, vomiting, facial flushing, stomach pain, and dryness of the mouth (xerostomia). In severe cases, diabetic ketoacidosis can lead to coma and death.\n\nType 1 diabetes can occur at any age, from early childhood to late adulthood. The first signs and symptoms of the disorder are caused by high blood glucose and may include frequent urination (polyuria), excessive thirst (polydipsia), fatigue, blurred vision, tingling or loss of feeling in the hands and feet, and weight loss. These symptoms may recur during the course of the disorder if blood glucose is not well controlled by insulin replacement therapy. Improper control can also cause blood glucose levels to become too low (hypoglycemia). This may occur when the body's needs change, such as during exercise or if eating is delayed. Hypoglycemia can cause headache, dizziness, hunger, shaking, sweating, weakness, and agitation.\n\nType 1 diabetes is a disorder characterized by abnormally high levels of blood glucose, also called blood sugar. In this form of diabetes, specialized cells in the pancreas called beta cells stop producing insulin. Insulin controls how much glucose (a type of sugar) is passed from the blood into cells for conversion to energy. Lack of insulin results in the inability to use glucose for energy or to control the amount of glucose in the blood.|MedlinePlus Genetics|N|
C1852093|Maturity-onset diabetes of the young (MODY) is a group of several conditions characterized by abnormally high levels of blood glucose, also called blood sugar. These forms of diabetes typically begin before age 30, although they can occur later in life. In MODY, elevated blood glucose arises from reduced production of insulin, which is a hormone produced in the pancreas that helps regulate blood glucose levels. Specifically, insulin controls how much glucose (a type of sugar) is passed from the blood into cells, where it is used as an energy source.\n\nThe different types of MODY are distinguished by their genetic causes. The most common types are HNF1A-MODY (also known as MODY3), accounting for 50 to 70 percent of cases, and GCK-MODY (MODY2), accounting for 30 to 50 percent of cases. Less frequent types include HNF4A-MODY (MODY1) and renal cysts and diabetes (RCAD) syndrome (also known as HNF1B-MODY or MODY5), which each account for 5 to 10 percent of cases. At least ten other types have been identified, and these are very rare.\n\nHNF1A-MODY and HNF4A-MODY have similar signs and symptoms that develop slowly over time. Early signs and symptoms in these types are caused by high blood glucose and may include frequent urination (polyuria), excessive thirst (polydipsia), fatigue, blurred vision, weight loss, and recurrent skin infections. Over time uncontrolled high blood glucose can damage small blood vessels in the eyes and kidneys. Damage to the light-sensitive tissue at the back of the eye (the retina) causes a condition known as diabetic retinopathy that can lead to vision loss and eventual blindness. Kidney damage (diabetic nephropathy) can lead to kidney failure and end-stage renal disease (ESRD). While these two types of MODY are very similar, certain features are particular to each type. For example, babies with HNF4A-MODY tend to weigh more than average or have abnormally low blood glucose at birth, even though other signs of the condition do not occur until childhood or young adulthood. People with HNF1A-MODY have a higher-than-average risk of developing noncancerous (benign) liver tumors known as hepatocellular adenomas.\n\nGCK-MODY is a very mild type of the condition. People with this type have slightly elevated blood glucose levels, particularly in the morning before eating (fasting blood glucose). However, affected individuals often have no symptoms related to the disorder, and diabetes-related complications are extremely rare.\n\nRCAD is associated with a combination of diabetes and kidney or urinary tract abnormalities (unrelated to the elevated blood glucose), most commonly fluid-filled sacs (cysts) in the kidneys. However, the signs and symptoms are variable, even within families, and not everyone with RCAD has both features. Affected individuals may have other features unrelated to diabetes, such as abnormalities of the pancreas or liver or a form of arthritis called gout.|MedlinePlus Genetics|N|
C1852094|Serum osmolality, which is defined as the sum of the osmolalities of every single dissolved particle in the blood such as sodium and associated anions, potassium, glucose, and urea, is above the upper limit of normal.|HPO|N|
C1852127|PPKS2 is characterized by linear hyperkeratosis of the palms, which is particularly evident in affected individuals who perform manual labor. Hyperkeratosis of the soles primarily involves pressure points, and diffuse background palmoplantar thickening may also be present. (Armstrong et al., 1999; Whittock et al., 1999).
For a discussion of genetic heterogeneity of the striate form of palmoplantar keratoderma, see PPKS1 (148700).|OMIM|N|
C1852144|Dermo-odonto dysplasia belongs to the group of tricho-odonto-onychial dysplasia. It has signs of variable severity: dry and thin skin, dental anomalies, nail alteration and trichodysplasia.|SNOMEDCT_US|N|
C1852145|Familial dermographism is a condition also known as skin writing. When people who have dermatographia lightly scratch their skin, the scratches redden into a raised wheal similar to hives. Signs and symptoms of dermatographia include raised red lines, swelling, inflammation, hive-like welts and itching. Symptoms usually disappear within 30 minutes. The exact cause of this condition is unknown. Treatment may invovle use of antihistamines if symptoms do not go away on their own.|MONDO|N|
C1852148|A net-like pattern of increased pigmentation of the oral cavity.|HPO|N|
C1852150|Isolated congenital adermatoglyphia is a rare, genetic developmental defect during embryogenesis disorder characterized by the lack of epidermal ridges on the palms and soles, resulting in the absence of fingerprints, with no other associated manifestations. It is associated with a reduced number of sweat gland openings and reduced transpiration of palms and soles.|ORDO|N|
C1852158|Dermal ridge patterns are the result of the interaction of 2 embryologic processes: the formation and later regression of the volar pads between the eighth and twelfth week of gestation and dermal ridge differentiation at around the twelfth week of gestation. The size and shape of the volar pad at the time of ridge differentiation influences the ultimate ridge pattern: in general, if the pad is large, a whorl will be formed, whereas if the pad is small, a plain arch will be formed. A loop is an intermediate pattern. In Caucasians, the loop is the most common pattern, and the arch is a rare pattern comprising 4 to 5% of fingertip patterns in the population. Fingertip arches are more common in females than males (Reed et al., 2006).|OMIM|N|
C1852159|A rare, acquired, endocrine disease characterized by the triad of diffuse skin and mucosa hyperpigmentation, markedly elevated serum adrenocorticotropin (ACTH) levels and an enlarging corticotroph adenoma, which manifest following total bilateral adrenalectomy performed for the treatment of Cushing's disease. Additionally, patients may present with headaches, visual field defects, cranial nerve palsy, pituitary apoplexy, diabetes insipidus, panhypopituitarism, and, occasionally, paraovarian or paratesticular tumors.|ORDO|N|
C1852169|Radiolucency (reflecting a reduction in the bony substance) around the apex (the tip of the dental root).|HPO|N|
C1852197|Bipolar disorder is a mental health condition that causes extreme shifts in mood, energy, and behavior. This disorder most often appears in late adolescence or early adulthood, although symptoms can begin at any time of life.\n\nPeople with bipolar disorder experience both dramatic "highs," called manic episodes, and "lows," called depressive episodes. These episodes can last from hours to weeks, and many people have no symptoms between episodes.\n\nManic episodes are characterized by increased energy and activity, irritability, restlessness, an inability to sleep, and reckless behavior. Some people with bipolar disorder experience hypomanic episodes, which are similar to but less extreme than manic episodes.\n\nDepressive episodes are marked by low energy and activity, a feeling of hopelessness, and an inability to perform everyday tasks. People with bipolar disorder often have repeated thoughts of death and suicide, and they have a much greater risk of dying by suicide than the general population.\n\nManic and depressive episodes can include psychotic symptoms, such as false perceptions (hallucinations) or strongly held false beliefs (delusions). Mixed episodes, which have features of manic and depressive episodes at the same time, also occur in some affected individuals.\n\nBipolar disorder is classified into several types based on the mood changes that occur. Bipolar I involves manic episodes, which can be accompanied by psychotic symptoms, and hypomanic or depressive episodes. Bipolar II involves hypomanic episodes and depressive episodes. Cyclothymic disorder involves hypomanic episodes and depressive episodes that are typically less severe than those in bipolar I or bipolar II.\n\nBipolar disorder often occurs with other mental health conditions, including anxiety disorders (such as panic attacks), behavioral disorders (such as attention-deficit/hyperactivity disorder), and substance abuse.|MedlinePlus Genetics|N|
C1852201|Dentin dysplasia-sclerotic bones syndrome is a rare, genetic odontologic disease characterized by the clinical, radiographic, and histologic features of dentine dysplasia and osteosclerosis of all long bones, with heavy cortical bone and narrowed or occluded marrow spaces. There have been no further descriptions in the literature since 1977.|ORDO|N|
C1852222|Primary failure of tooth eruption (PFE) is an autosomal dominant disorder in which nonankylosed posterior teeth fail to move along the eruption path cleared for them, resulting in a posterior open bite. Failure of affected teeth to respond to orthodontic force is a key characteristic (summary by Frazier-Bowers et al., 2007).
See also 157950 and 273050 for phenotypes with shared features of PFE.|OMIM|N|
C1852242|An acute condition characterized by sudden visual loss (usually discovered in the morning), optic disc edema at onset, optic disc-related visual field defects. Nonarteritic anterior ischemic optic neuropathy can be associated with flame hemorrhages on the swollen disk or nearby neuroretinal layer, and sometimes with nearby cotton-wool exudates.|HPO|N|
C1852271|A hearing disorder characterized by impaired transmission of signals through the auditory nerve, resulting in mild to severe hearing loss and poor speech perception.|MONDO|N|
C1852278|This syndrome has characteristics of the association of congenital hearing loss and facial dysmorphism (facial asymmetry, a broad nasal root and small nasal alae). It has been described in two members (father and daughter) of one Jewish family. Temporal alopecia was also noted. Transmission appeared to be autosomal dominant.|SNOMEDCT_US|N|
C1852282|DFNA1 is an autosomal dominant form of progressive hearing loss with onset in the first decade. Some patients have mild thrombocytopenia and enlarged platelets, although most of these individuals do not have significant bleeding tendencies (summary by Neuhaus et al., 2017).|OMIM|N|
C1852289|The spontaneous detachment of a digit (finger or toe) from the body due to long standing pathology.|HPO|N|
C1852292|Deafness-ear malformation-facial palsy syndrome is characterized by profound conductive deafness due to stapedial abnormalities associated with variable malformations of the external ears and facial paralysis. It has been described in three sibs and their mother. Inheritance is autosomal dominant.|ORDO|N|
C1852301|The presence of multiple pits (small, pinpoint-large indentations on the surface of the skin) located on the skin of sole of foot.|HPO|N|
C1852372|Isolated complex III deficiency is a rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by a wide spectrum of clinical manifestations ranging from isolated myopathy or transient hepatopathy to severe multisystem disorder (that may include hypotonia, failure to thrive, psychomotor delay, cardiomyopathy, encephalopathy, renal tubulopathy, hearing impairment, lactic acidosis, hypoglycemia and other signs and symptoms).|ORDO|N|
C1852396|The syndrome has been described in a single Greek Cypriot family, over three generations. There have been no further descriptions in the literature since 1992. Affected individuals have a striking facial appearance (described as Mephistophelian) and variable skeletal deformities and neuromuscular abnormalities. The facial appearance consists of a thickened, ridged, triangular skin fold extending from the glabella to the anterior fontanelle, elevation of the medial portion of the eyebrows bilaterally, hypertelorism, low-set ears, posteriorly rotated ears and widow''s peak. Musculoskeletal features may coexist and include congenital kyphoscoliosis, hip dislocation, congenital talipes equinovarus and arthrogryposis. Neurological and musculoskeletal defects are severe and incapacitating in some affected family members, while all have normal intelligence. The cause of this syndrome is not known.|SNOMEDCT_US|N|
C1852406|Beare-Stevenson cutis gyrata syndrome (BSTVS) is an autosomal dominant condition characterized by the furrowed skin disorder of cutis gyrata, acanthosis nigricans, craniosynostosis, craniofacial dysmorphism, digital anomalies, umbilical and anogenital abnormalities, and early death (summary by Przylepa et al., 1996).|OMIM|N|
C1852407|Increased size of the ridge of tissue that extends along the midline of the scrotum.|HPO|N|
C1852411|A groove of the skin immediately in front of the ear.|HPO|N|
C1852438|A type of nuclear cataract involving congenital dust-like (pulverulent) opacity of the embryonal and fetal nucleus.|HPO|N|
C1852453|Cryptophthalmos is a condition of eyelid malformation with an underlying malformed eye. Complete, incomplete, and symblepharon varieties exist. The skin in complete cryptophthalmos extends uninterrupted from the forehead to the cheek. In the incomplete form, there is medial eyelid fusion, but coincident intact lateral structures. The symblepharon variety presents with fusion of the upper eyelid skin to the superior aspect of the globe. The complete variety is the most common form (summary by Egier et al., 2005).|OMIM|N|
C1852454|This syndrome describes a combination of malformations that include bilateral cryptomicrotia (recessed, hidden and small or absent ears), brachytelomesophalangy with short middle and distal phalanges of digits two through five, hypoplastic toenails and excess fingertip arch patterns. The syndrome has been reported in one family (mother and son). There have been no further descriptions in the literature since 1988.|SNOMEDCT_US|N|
C1852456|A rare immune complex-mediated vasculitis characterized by the presence of circulating cryoprecipitable immune complexes in the serum, manifesting clinically with the classical triad of purpura, weakness and arthralgia.|ORDO|N|
C1852464|Any abnormality of the cervical vertebral column.|HPO|N|
C1852467|A rare sporadic human prion disease characterized by rapidly progressive cognitive impairment in combination with variable neurologic signs and symptoms including myoclonus, visual or cerebellar problems, pyramidal or extrapyramidal features, or akinetic mutism. Brain imaging may show high signal intensity in caudate, putamen, and/or cortical regions, and a typical EEG pattern consisting of generalized periodic sharp wave complexes is observed in many cases. The disease is invariably fatal within less than two years. Neuropathologic examination reveals deposition of abnormal prion protein in brain tissue, as well as spongiform change and massive neuronal loss and gliosis.|ORDO|N|
C1852470|Muscular rigidity (continuous contraction of muscles with constant resistance to passive movement).|HPO|N|
C1852501|A rare frontonasal dysplasia malformation syndrome with characteristics of an oxycephalic skull with craniosynostosis, wide nose with anteverted nostrils, hirsutism at base of nose, agenesis of the nasolacrimal ducts and bilateral symmetrical nasolabial cysts on upper lip. Additional features may include hypertelorism. There have been no further descriptions in the literature since 1991.|SNOMEDCT_US|N|
C1852502|Autosomal dominant craniometaphyseal dysplasia (designated AD-CMD in this review) is characterized by progressive diffuse hyperostosis of cranial bones evident clinically as wide nasal bridge, paranasal bossing, widely spaced eyes with an increase in bizygomatic width, and prominent mandible. Development of dentition may be delayed and teeth may fail to erupt as a result of hyperostosis and sclerosis of alveolar bone. Progressive thickening of craniofacial bones continues throughout life, often resulting in narrowing of the cranial foramina, including the foramen magnum. If untreated, compression of cranial nerves can lead to disabling conditions such as facial palsy, blindness, or deafness (conductive and/or sensorineural hearing loss). In individuals with typical uncomplicated AD-CMD life expectancy is normal; in those with severe AD-CMD life expectancy can be reduced as a result of compression of the foramen magnum.|GeneReviews|N|
C1852504|Abnormal alignment, positioning, or spacing of the teeth, i.e., misaligned teeth.|HPO|N|
C1852510|Craniofacial-deafness-hand syndrome (CDHS) is an autosomal dominant disorder characterized by dysmorphic facial features, hand abnormalities, absent or hypoplastic nasal and wrist bones, and severe sensorineural hearing impairment (summary by Gad et al., 2008).|OMIM|N|
C1852513|An extremely rare primary bone defect described only in a mother and her three daughters to date. The disease has characteristics of short stature, hip dislocation, minor vertebral and pelvic changes and microtia with hearing loss. There have been no further descriptions in the literature since 1981.|SNOMEDCT_US|N|
C1852514|Tegafur is a chemotherapeutic agent and a member of the fluoropyrimidine group of substances. It is a prodrug of 5-fluorouracil and mainly used to treat solid tumors, such as colorectal, breast and aerodigestive cancers. Dihydropyrimidine dehydrogenase (DPD, encoded by the DPYD gene) is the rate-limiting enzyme for fluoropyrimidine metabolism and is therefore responsible for the detoxification of these types of drugs. Patients who are homozygous for variants in DPYD that lead to a non-functional protein, such as *2A or *13, have a high risk of severe or fatal drug toxicities and may benefit from receiving an alternative chemotherapeutic drug. Patients heterozygous for these variants also have an increased risk for drug toxicities, and reduced dosing is recommended for these individuals. Guidelines regarding the use of pharmacogenomic tests in dosing for tegafur have been published in Clinical Pharmacology and Therapeutics by the Clinical Pharmacogenetics Implementation Consortium (CPIC) and are available on the PharmGKB website.|PharmGKB|N|
C1852523|A rare anomaly with characteristics of fixation of the scapula to the first rib, resulting in a cosmetic deformity with rounding of the shoulders and loss of the anterior clavicular contour. It has been described only once in several members of a single family from Canada. The abnormality resulted in a strong pectoral girdle with lack of mobility. Movements requiring rotation or retraction of the scapula were limited, but this does not normally interfere with daily activities.|SNOMEDCT_US|N|
C1852529|Corticosteroid-binding globulin deficiency is a condition with subtle signs and symptoms, the most frequent being extreme tiredness (fatigue), especially after physical exertion. Many people with this condition have unusually low blood pressure (hypotension). Some affected individuals have a fatty liver or experience chronic pain, particularly in their muscles. These features vary among affected individuals, even those within the same family.\n\nMany people with corticosteroid-binding globulin deficiency have only one or two of these features; others have no signs and symptoms of the disorder and are only diagnosed after a relative is found to be affected.\n\nSome people with corticosteroid-binding globulin deficiency also have a condition called myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS). The features of ME/CFS are prolonged fatigue that interferes with daily activities, as well as general symptoms, such as sore throat or headaches.|MedlinePlus Genetics|N|
C1852534|Underdevelopment of part or all of the male external reproductive organs (which include the penis, the scrotum and the urethra).|HPO|N|
C1852539|Increased susceptibility to coronavirus 229e, as manifested by recurrent episodes of coronavirus 229e.|HPO|N|
C1852540|A rare vascular disease characterized by idiopathic detachment of the layers of the walls of coronary arteries, creating a false lumen which limits the main coronary flow, leading to myocardial ischemia. Clinical manifestations include acute coronary syndromes, especially ST-segment elevation myocardial infarction (STEMI), syncope, cardiogenic shock, or sudden cardiac death. The condition typically affects young women.|ORDO|N|
C1852541|A rare neuro-ophthalmological disorder characterised by a congenital sensory deficit involving all or some of the sensory components of the trigeminal nerve. Due to corneal anaesthesia, it usually presents with recurrent, painless eye infections, painless corneal opacities and/or poorly healing, ulcerated wounds on the facial skin and mucosa (typically the buccal mucosa and/or nasal septum).|SNOMEDCT_US|N|
C1852542|A rare, genetic, ectodermal dysplasia syndrome characterized by corneal epithelial changes (ranging from roughening to nodular irregularities), diffuse palmoplantar hyperkeratosis with thickened, erythematous, scaly lesions affecting the elbows, knees and knuckles, distal onycholysis, brachydactyly accompanied by a single transverse palmar crease, short stature, premature birth, and increased susceptibility to tooth decay. Ocular symptoms include photophobia, reduced night vision, burning and watery eyes, and varying visual acuity. There have been no further descriptions in the literature since 1984.|ORDO|N|
C1852551|Epithelial recurrent erosion dystrophy (ERED) is characterized by frequent painful recurrent corneal erosions, with onset in the first decade of life and subsequent gradual decrease in frequency, with cessation in the third or fourth decade. Small gray anterior stromal flecks associated with larger focal gray-white disc-shaped, circular, or wreath-like lesions with central clarity, in the Bowman layer and immediately subjacent anterior stroma, varying from 0.2 to 1.5 mm in diameter, appear to be clinically diagnostic of ERED (Oliver et al., 2016).|OMIM|N|
C1852555|A posterior polymorphous corneal dystrophy that has material basis in autosomal dominant inheritance of mutation in the OVOL2 gene on chromosome 20p11.23.|MONDO|N|
C1852557|Cornea plana is clinically characterized by reduced corneal curvature leading in most cases to hyperopia, hazy corneal limbus, and arcus lipoides at an early age. CNA1, an autosomal dominant form of the disorder, is mild (summary by Tahvanainen et al., 1996).
Genetic Heterogeneity of Cornea Plana
Also see CNA2 (217300), an autosomal recessive form of the disorder, which is severe and frequently associated with additional ocular manifestations.|OMIM|N|
C1852576|A rare disorder of mineral absorption and transport characterized by hypocupremia that manifests as failure to thrive, mild anemia, repeated seizures, hypotonia and seborrheic skin. Spurring of the femur and tibia are also noted on radiographic imaging. Symptoms are reversible or improve with supplements of oral copper. There have been no further descriptions in the literature since 1982.|SNOMEDCT_US|N|
C1852577|Childhood seizures associated with febrile episodes are relatively common and represent the majority of childhood seizures. A febrile convulsion is defined as a seizure event in infancy or childhood, usually occurring between 6 months and 6 years of age, associated with fever but without any evidence of intracranial infection or defined pathologic or traumatic cause (Nabbout et al., 2002). Although the majority of patients do not develop epilepsy, the risk of developing subsequent afebrile seizures is 5 to 7 times higher in those with a history of febrile seizures compared to the general population (Annegers et al., 1987; Hedera et al., 2006).
The FEB1 locus maps to chromosome 8q13-q21.
Genetic Heterogeneity of Familial Febrile Seizures
See FEB2 (602477), caused by mutation in the HCN2 gene (602781) on chromosome 19p13; FEB3A (604403), caused by mutation in the SCN1A gene (182389) on chromosome 2q24; FEB4 (604352), caused by mutation in the ADGRV1 gene (602851) on chromosome 5q14; FEB8 (607681), caused by mutation in the GABRG2 gene (137164) on chromosome 5q31; and FEB11 (614418), caused by mutation in the CPA6 gene (609562) on chromosome 8q13.
Several loci for familial febrile seizures have been identified: see FEB3B (613863) on chromosome 2q24; FEB5 (609255) on chromosome 6q22-q24; FEB6 (609253) on chromosome 18p11; FEB7 (611515) on chromosome 21q22; FEB9 (611634) on chromosome 3p24.2-p23; and FEB10 (612637) on chromosome 3q26.
A phenotype termed 'generalized epilepsy with febrile seizures plus' (GEFS+; 604233) is a clinical subset of familial febrile convulsions in which affected individuals later develop afebrile seizures. GEFS+ is associated with mutations in several genes.
Deprez et al. (2009) provided a review of the genetics of epilepsy syndromes starting in the first year of life, and included a diagnostic algorithm.|OMIM|N|
C1852581|KCNQ3-related disorders include benign familial neonatal epilepsy (BFNE) and benign familial infantile epilepsy (BFIE), seizure disorders that occur in children who typically have normal psychomotor development. An additional KCNQ3-related disorder involves developmental disability. In BFNE seizures begin in an otherwise healthy infant between days two and eight of life and spontaneously disappear between the first and the sixth to 12th month of life. Seizures are generally brief, lasting one to two minutes. Seizure types include tonic or apneic episodes, focal clonic activity, and autonomic changes. Motor activity may be confined to one body part, migrate to other regions, or generalize. Infants are well between seizures and feed normally. In BFIE seizures start in the first year of life, beyond the neonatal period, and disappear after age one to two years. Seizures are generally brief, lasting two minutes; they appear as daily repeated clusters. Seizure type is usually focal, but can be also generalized, causing diffuse hypertonia with jerks of the limbs, head deviation, or motor arrest with unconsciousness and cyanosis. Infants are normal between seizures and psychomotor development is usually normal. In the KCNQ3-related developmental disability phenotype, individuals present with intellectual disability with or without seizures and/or cortical visual impairment. As little clinical information on these individuals is available, the clinical presentation of KCNQ3-related developmental disability remains to be defined.|GeneReviews|N|
C1852752|A malformation syndrome with the combination of bilateral coloboma of macula, horizontal pendular nystagmus, severe visual loss and brachydactyly type B. The hand and feet defects comprise shortening of the middle and terminal phalanges of the second to fifth digits, hypoplastic or absent nails, broad or bifid thumbs and halluces, syndactyly and flexion deformities of the joints of some digits. Inherited in a dominant manner.|SNOMEDCT_US|N|
C1852759|PAX2-related disorder is an autosomal dominant disorder associated with renal and eye abnormalities. The disorder was originally referred to as renal coloboma syndrome and characterized by renal hypodysplasia and abnormalities of the optic nerve; with improved access to molecular testing, a wider range of phenotypes has been recognized in association with pathogenic variants in PAX2. Abnormal renal structure or function is noted in 92% of affected individuals and ophthalmologic abnormalities in 77% of affected individuals. Renal abnormalities can be clinically silent in rare individuals. In most individuals, clinically significant renal insufficiency / renal failure is reported. End-stage renal disease requiring renal transplant is not uncommon. Uric acid nephrolithiasis has been reported. Ophthalmologic abnormalities are typically described as optic nerve coloboma or dysplasia. Iris colobomas have not been reported in any individual with PAX2–related disorder. Ophthalmologic abnormalities may significantly impair vision in some individuals, while others have subtle changes only noted after detailed ophthalmologic examination. Additional clinical findings include high-frequency sensorineural hearing loss, soft skin, and ligamentous laxity. PAX2 pathogenic variants have been identified in multiple sporadic and familial cases of nonsyndromic renal disease including renal hypodysplasia and focal segmental glomerulosclerosis.|GeneReviews|N|
C1852767|A congenital defect of the macula distinct from coloboma associated with optic fissure closure defects. Macular coloboma is characterized by a sharply defined, rather large defect in the central area of the fundus that is oval or round, and coarsely pigmented.|HPO|N|
C1852795|Posterior polymorphous corneal dystrophy-2 (PPCD2) is characterized by formation of blister-like lesions within the corneal endothelium or by regions of endothelial basement membrane thickening with associated corneal edema. The normal amitotic endothelial cells are replaced by epithelial-like cells that possess abundant intermediate filaments, desmosomes, and microvilli. The endothelium becomes multilayered and the abnormally proliferating cells may extend outwards from the cornea over the trabecular meshwork to cause glaucoma (summary by Biswas et al., 2001).
For a general phenotypic description and  a discussion of genetic heterogeneity of PPCD, see PPCD1 (122000).|OMIM|N|
C1852989|Vitreoretinopathy with phalangeal epiphyseal dysplasia (VPED) is an autosomal dominant disorder characterized by rhegmatogenous retinal detachment, premature arthropathy, and development of phalangeal epiphyseal dysplasia, resulting in brachydactyly. Stature is normal, and high myopia, cleft palate, and midfacial hypoplasia are absent (Richards et al., 2002).|OMIM|N|
C1853096|A lipid transport disorder characterized by extremely elevated levels of high density lipoprotein cholesterol (HDL C; HDLC). It is caused by heterozygous mutations in the SCARB1 gene that result in decreased transport of HCL C into the liver by scavenger receptor class B member 1.|NCI|N|
C1853099|Cornelia de Lange syndrome (CdLS) encompasses a spectrum of findings from mild to severe. Severe (classic) CdLS is characterized by distinctive facial features, growth restriction (prenatal onset; <5th centile throughout life), hypertrichosis, and upper-limb reduction defects that range from subtle phalangeal abnormalities to oligodactyly (missing digits). Craniofacial features include synophrys, highly arched and/or thick eyebrows, long eyelashes, short nasal bridge with anteverted nares, small widely spaced teeth, and microcephaly. Individuals with a milder phenotype have less severe growth, cognitive, and limb involvement, but often have facial features consistent with CdLS. Across the CdLS spectrum IQ ranges from below 30 to 102 (mean: 53). Many individuals demonstrate autistic and self-destructive tendencies. Other frequent findings include cardiac septal defects, gastrointestinal dysfunction, hearing loss, myopia, and cryptorchidism or hypoplastic genitalia.|GeneReviews|N|
C1853100|Cerebrooculofacioskeletal syndrome-4 (COFS4) is a severe autosomal recessive disorder characterized by growth retardation, dysmorphic facial features, arthrogryposis, and neurologic abnormalities. Cellular studies show a defect in both transcription-coupled and global genome nucleotide excision repair (TC-NER and GG-NER) (summary by Jaspers et al., 2007 and Kashiyama et al., 2013).
For a discussion of genetic heterogeneity of cerebrooculofacioskeletal syndrome, see 214150.|OMIM|N|
C1853102|Any COFS syndrome in which the cause of the disease is a mutation in the ERCC2 gene.|MONDO|N|
C1853116|SYNE1 deficiency comprises a phenotypic spectrum that ranges from autosomal recessive cerebellar ataxia at the mild end to arthrogryposis multiplex congenita (AMC) at the severe end. SYNE1-deficient cerebellar ataxia, the most commonly recognized manifestation of SYNE1 deficiency to date, is a slowly progressive disorder typically beginning in adulthood (age range 6-45 years). While some individuals have a pure cerebellar syndrome (i.e., cerebellar ataxia, dysarthria, dysmetria, abnormalities in ocular saccades and smooth pursuit), many also have upper motor neuron dysfunction (spasticity, hyperreflexia, Babinski sign) and/or lower motor neuron dysfunction (amyotrophy, reduced reflexes, fasciculations). Most individuals develop features of the cerebellar cognitive and affective syndrome (i.e., significant deficits in attention, executive functioning, verbal working memory, and visuospatial/visuoconstructional skills). The two less common phenotypes are SYNE1-deficient childhood-onset multisystem disease (ataxia, upper and lower motor neuron dysfunction, muscle weakness and wasting, intellectual disability) and SYNE1-deficient arthrogryposis multiplex congenita (decreased fetal movements and severe neonatal hypotonia associated with multiple congenital joint contractures including clubfoot).|GeneReviews|N|
C1853118|Severe congenital neutropenia is a condition that increases the risk of repeated infections in affected individuals.  People with this condition have an abnormally low level (deficiency) of neutrophils, a type of white blood cell that plays a role in inflammation and in fighting infection. The shortage of neutrophils, called neutropenia, is apparent at birth or soon afterward. It leads to frequent infections beginning in infancy, including infections of the sinuses, lungs, and liver. Affected individuals can also develop fevers and inflammation of the gums (gingivitis) and skin. Approximately 40 percent of affected people have decreased bone density (osteopenia) and may develop osteoporosis, a condition that makes bones progressively more brittle and likely to fracture.  In people with severe congenital neutropenia,  bone disorders can begin at any time from infancy through adulthood.\n\nApproximately 20 percent of people with severe congenital neutropenia develop certain cancerous conditions of the blood, particularly myelodysplastic syndrome or leukemia during adolescence.\n\nSome people with severe congenital neutropenia have additional health problems such as seizures, developmental delay, or heart and genital abnormalities.|MedlinePlus Genetics|N|
C1853120|Noonan syndrome (NS) is characterized by characteristic facies, short stature, congenital heart defect, and developmental delay of variable degree. Other findings can include broad or webbed neck, unusual chest shape with superior pectus carinatum and inferior pectus excavatum, cryptorchidism, varied coagulation defects, lymphatic dysplasias, and ocular abnormalities. Although birth length is usually normal, final adult height approaches the lower limit of normal. Congenital heart disease occurs in 50%-80% of individuals. Pulmonary valve stenosis, often with dysplasia, is the most common heart defect and is found in 20%-50% of individuals. Hypertrophic cardiomyopathy, found in 20%-30% of individuals, may be present at birth or develop in infancy or childhood. Other structural defects include atrial and ventricular septal defects, branch pulmonary artery stenosis, and tetralogy of Fallot. Up to one fourth of affected individuals have mild intellectual disability, and language impairments in general are more common in NS than in the general population.|GeneReviews|N|
C1853124|Nephrotic syndrome, a malfunction of the glomerular filter, is characterized clinically by proteinuria, edema, and end-stage renal disease (ESRD). Renal histopathology may show diffuse mesangial sclerosis (DMS) or focal segmental glomerulosclerosis (FSGS) (Hinkes et al., 2006).
Most patients with NPHS3 show diffuse mesangial sclerosis on renal biopsy, which is a pathologic entity characterized by mesangial matrix expansion with no mesangial hypercellularity, hypertrophy of the podocytes, vacuolized podocytes, thickened basement membranes, and diminished patency of the capillary lumen (Gbadegesin et al., 2008).
For a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome and FSGS, see NPHS1 (256300).|OMIM|N|
C1853136|Neutral lipid storage disease with myopathy (NLSDM) is an autosomal recessive muscle disorder characterized by adult onset of slowly progressive proximal muscle weakness affecting the upper and lower limbs and associated with increased serum creatine kinase; distal muscle weakness may also occur. About half of patients develop cardiomyopathy later in the disease course. Other variable features include diabetes mellitus, hepatic steatosis, hypertriglyceridemia, and possibly sensorineural hearing loss. Leukocytes and muscle cells show cytoplasmic accumulation of triglycerides (summary by Reilich et al., 2011).
Neutral lipid storage disease with myopathy belongs to a group of disorders termed neutral lipid storage disorders (NLSDs). These disorders are characterized by the presence of triglyceride-containing cytoplasmic droplets in leukocytes and in other tissues, including bone marrow, skin, and muscle. Chanarin-Dorfman syndrome (CDS; 275630) is defined as NLSD with ichthyosis (NLSDI). Patients with NLSDM present with myopathy but without ichthyosis (summary by Fischer et al., 2007).|OMIM|N|
C1853137|Brachydactyly-syndactyly, Zhao type is a recently described syndrome associating a brachydactyly type A4 (short middle phalanges of the 2nd and 5th fingers and absence of middle phalanges of the 2nd to 5th toes) and a syndactyly of the 2nd and 3rd toes. Metacarpals and metatarsals anomalies are common.|ORDO|N|
C1853139|OPA5 is an autosomal dominant form of nonsyndromic optic atrophy, manifest as slowly progressive visual loss with variable onset from the first to third decades. Additional ocular abnormalities may include central scotoma and color vision defects. The pathogenesis is related to defective mitochondrial fission (summary by Gerber et al., 2017).
For a discussion of genetic heterogeneity of optic atrophy, see OPA1 (165500).|OMIM|N|
C1853144|Congenital deafness with labyrinthine aplasia, microtia, and microdontia (LAMM syndrome) is characterized by: profound bilateral congenital sensorineural deafness associated with inner ear anomalies (most often bilateral complete labyrinthine aplasia); microtia (type I) that is typically bilateral (although unilateral microtia and normal external ears are observed on occasion); and microdontia (small teeth). Individuals with LAMM syndrome commonly have motor delays during infancy presumably due to impaired balance from inner ear (vestibular) abnormalities. Growth, physical development, and cognition are normal.|GeneReviews|N|
C1853147|Age-related macular degeneration-4 (ARMD) is a disorder of the eye characterized by the formation of drusen on the retina, often as cuticular drusen which appear in a 'starry sky' distribution on fluorescein angiography. The disorder results in a progressive loss of central vision (summary by Hageman et al., 2005, Grassi et al., 2007).|OMIM|N|
C1853153|Classic Joubert syndrome (JS) is characterized by three primary findings: A distinctive cerebellar and brain stem malformation called the molar tooth sign (MTS). Hypotonia. Developmental delays. Often these findings are accompanied by episodic tachypnea or apnea and/or atypical eye movements. In general, the breathing abnormalities improve with age, truncal ataxia develops over time, and acquisition of gross motor milestones is delayed. Cognitive abilities are variable, ranging from severe intellectual disability to normal. Additional findings can include retinal dystrophy, renal disease, ocular colobomas, occipital encephalocele, hepatic fibrosis, polydactyly, oral hamartomas, and endocrine abnormalities. Both intra- and interfamilial variation are seen.|GeneReviews|N|
C1853154|Nemaline myopathy-7 is an autosomal recessive congenital myopathy characterized by very early onset of hypotonia and delayed motor development. Affected individuals have difficulty walking and running due to proximal muscle weakness. The disorder is slowly progressive, and patients may lose independent ambulation. Muscle biopsy shows nemaline rods and may later show minicores, abnormal protein aggregates, and dystrophic changes (summary by Ockeloen et al., 2012).
For a discussion of genetic heterogeneity of nemaline myopathy, see 161800.|OMIM|N|
C1853162|Osteogenesis imperfecta is a connective tissue disorder characterized by bone fragility and low bone mass. OI type VII is an autosomal recessive form of severe or lethal OI (summary by Barnes et al., 2006).|OMIM|N|
C1853171|The presence of bone fractures in the prenatal period that are diagnosed at birth or before.|HPO|N|
C1853188|Cystic collection (sac-like, fluid containing pocket of membranous tissue) located in the interhemispheric fissure, with or without communication with the ventricular system.|HPO|N|
C1853193|Infections of the skin that happen multiple times.|HPO|N|
C1853196|Myopia, or nearsightedness, is a refractive error of the eye. Light rays from a distant object are focused in front of the retina and those from a near object are focused in the retina; therefore distant objects are blurry and near objects are clear (summary by Kaiser et al., 2004).
For a discussion of genetic heterogeneity of susceptibility to myopia, see 160700.|OMIM|N|
C1853198|Cold-induced sweating syndrome (CISS) and its infantile presentation, Crisponi syndrome(CS) is characterized by dysmorphic features (distinctive facies, lower facial weakness, flexion deformity at the elbows, camptodactyly with fisted hands, misshapen feet, and overriding toes); intermittent contracture of facial and oropharyngeal muscles when crying or being handled with puckering of lips and drooling of foamy saliva often associated with laryngospasm and respiratory distress; excessive startling and opisthotonus-like posturing with unexpected tactile or auditory stimuli; poor suck reflex and severely impaired swallowing; and a scaly erythematous rash. During the first decade of life, children with CISS/CS develop profuse sweating of the face, arms, and chest with ambient temperatures below 18º to 22º C, and with other stimuli including nervousness or ingestion of sweets. Affected individuals sweat very little in hot environments and may feel overheated. Progressive thoracolumbar kyphoscoliosis occurs, requiring intervention in the second decade.|GeneReviews|N|
C1853202|Generally, Parkinson's disease that begins after age 50 is called late-onset disease. The condition is described as early-onset disease if signs and symptoms begin before age 50. Early-onset cases that begin before age 20 are sometimes referred to as juvenile-onset Parkinson's disease.\n\nParkinson's disease can also affect emotions and thinking ability (cognition). Some affected individuals develop psychiatric conditions such as depression and visual hallucinations. People with Parkinson's disease also have an increased risk of developing dementia, which is a decline in intellectual functions including judgment and memory.\n\nOften the first symptom of Parkinson's disease is trembling or shaking (tremor) of a limb, especially when the body is at rest. Typically, the tremor begins on one side of the body, usually in one hand. Tremors can also affect the arms, legs, feet, and face. Other characteristic symptoms of Parkinson's disease include rigidity or stiffness of the limbs and torso, slow movement (bradykinesia) or an inability to move (akinesia), and impaired balance and coordination (postural instability). These symptoms worsen slowly over time.\n\nParkinson's disease is a progressive disorder of the nervous system. The disorder affects several regions of the brain, especially an area called the substantia nigra that controls balance and movement.|MedlinePlus Genetics|N|
C1853214|Retinitis pigmentosa-35 (RP35) is characterized by night blindness with progressive loss of vision. Pigment deposits and narrowing of vasculature are seen in the retina (Abid et al., 2006).
Mutation in SEMA4A can also cause a form of cone-rod dystrophy (CORD10; 610283).
For a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000.|OMIM|N|
C1853215|A cerebral malformation with characteristics of symmetric, bilateral pachygyria with normal head circumference and without polymicrogyria. Clinical manifestations include developmental delay, moderate intellectual disability, normal or slightly decreased muscle tone and deep-tendon reflexes, telecanthus or hypertelorism.|SNOMEDCT_US|N|
C1853223|Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the LHFPL5 gene.|MONDO|N|
C1853230|Anterior segment dysgeneses are a heterogeneous group of developmental disorders affecting the anterior segment of the eye, including the cornea, iris, lens, trabecular meshwork, and Schlemm canal. The clinical features of ASGD include iris hypoplasia, an enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, an abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface (summary by Cheong et al., 2016).
Anterior segment dysgenesis is sometimes divided into subtypes, including aniridia (see 106210), Axenfeld and Rieger anomalies, iridogoniodysgenesis, Peters anomaly, and posterior embryotoxon (Gould and John, 2002).
Some patients with ASGD2 have been reported with a congenital primary aphakia subtype.
Congenital primary aphakia is a rare developmental disorder characterized by absence of the lens, the development of which is normally induced during the fourth to fifth week of human embryogenesis. This original failure leads, in turn, to complete aplasia of the anterior segment of the eye, which is the diagnostic histologic criterion for CPAK. In contrast, in secondary aphakia, lens induction occurs and the lens vesicle develops to some degree, but is progressively resorbed perinatally, resulting in less severe ocular defects (summary by Valleix et al., 2006).|OMIM|N|
C1853235|A congenital anomaly in which a part or the whole of the cornea acquires the characteristics of sclera, resulting in clouding of the cornea.|HPO|N|
C1853237|Cases of the disease in question occur without a previous family history, i.e., as isolated cases without being transmitted from a parent and without other siblings being affected.|HPO|N|
C1853238|A congenital malformation of the outflow tract of the heart. Conotruncal defects are thought to result from a disturbance of the outflow tract of the embryonic heart, and comprise truncus arteriosus, tetralogy of Fallot, interrupted aortic arch, transposition of the great arteries, and double outlet right ventricle.|HPO|N|
C1853241|Absence of concavity or convexity of the face when viewed in profile.|HPO|N|
C1853242|Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle.|HPO|N|
C1853246|An abnormal configuration of the lower lip such that it is turned outward i.e., everted, with the Inner aspect of the lower lip vermilion (normally opposing the teeth) being visible in a frontal view.|HPO|N|
C1853247|Spastic paraplegia-31 (SPG31) is an autosomal dominant neurologic disorder characterized primarily by spasticity of the lower limbs, resulting in gait abnormalities and muscle weakness. There is a bimodal age at onset with a peak in the second and fourth decades of life. Most affected individuals have a 'pure' form of the disorder with gait difficulties and hyperreflexia of the lower limbs. However, there is phenotypic heterogeneity, and some patients have a 'complex' form of the disorder with additional signs and symptoms, such as peripheral neuropathy, cerebellar ataxia, postural tremor, or urinary symptoms. The disorder is slowly progressive, and there is intrafamilial variability and incomplete penetrance (summary by Goizet et al., 2011 and Toft et al., 2019).
For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant spastic paraplegia, see SPG3A (182600).|OMIM|N|
C1853248|An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 20q13.2-q13.3.|MONDO|N|
C1853249|Spinocerebellar ataxia type 28 (SCA28) is characterized by young-adult onset, very slowly progressive gait and limb ataxia resulting in coordination and balance problems, dysarthria, ptosis, nystagmus, and ophthalmoparesis. In most individuals, SCA28 presents as a loss of coordination of lower limbs (unsteadiness, gait ataxia). Less frequently, ptosis/ophthalmoplegia, dysarthria, or upper-limb incoordination may occur as the initial finding. The course of the disease is slowly progressive without impairment of functional autonomy even decades after onset.|GeneReviews|N|
C1853250|Spinocerebellar ataxia-23 (SCA23) is an adult-onset autosomal dominant neurodegenerative disorder characterized by slowly progressive gait and limb ataxia, with variable additional features, including peripheral neuropathy and dysarthria (Bakalkin et al., 2010).
For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (164400).|OMIM|N|
C1853251|Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the ZFYVE27 gene.|MONDO|N|
C1853258|A rare genetic epidermal disorder with characteristics of a chronic diffuse fine scaly erythematous rash on the face (predominantly the chin, nasolabial folds, eyebrows) around the earlobes and over the scalp, associated with hyperkeratosis over elbows, knees, palms, soles and metacarpophalangeal joints, in the absence of associated rheumatological or neurological disorders. Cold weather, emotional stress and strenuous physical activity may exacerbate symptoms. There is evidence the disease is caused by mutation in the ZNF750 gene.|SNOMEDCT_US|N|
C1853271|Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a rare autosomal recessive disorder characterized by the presence of hypophosphatemia secondary to renal phosphate wasting, radiographic and/or histologic evidence of rickets, limb deformities, muscle weakness, and bone pain. HHRH is distinct from other forms of hypophosphatemic rickets in that affected individuals present with hypercalciuria due to increased serum 1,25-dihydroxyvitamin D levels and increased intestinal calcium absorption (summary by Bergwitz et al., 2006).|OMIM|N|
C1853276|An autosomal recessive disorder caused by mutations in the TRIOBP gene, encoding TRIO and F-actin-binding protein. The condition is characterized by severe to profound sensorineural hearing loss.|NCI|N|
C1853278|Platelet-type bleeding disorder-8 (BDPLT8) is an autosomal recessive condition characterized by mild to moderate mucocutaneous bleeding and excessive bleeding after surgery or trauma. The defect is due to the inability of ADP to induce platelet aggregation (review by Cattaneo, 2011).|OMIM|N|
C1853286|Familial erythrocytosis is an inherited condition characterized by an increased number of red blood cells (erythrocytes). The primary function of these cells is to carry oxygen from the lungs to tissues and organs throughout the body. Signs and symptoms of familial erythrocytosis can include headaches, dizziness, nosebleeds, and shortness of breath. The excess red blood cells also increase the risk of developing abnormal blood clots that can block the flow of blood through arteries and veins. If these clots restrict blood flow to essential organs and tissues (particularly the heart, lungs, or brain), they can cause life-threatening complications such as a heart attack or stroke. However, many people with familial erythrocytosis experience only mild signs and symptoms or never have any problems related to their extra red blood cells.|MedlinePlus Genetics|N|
C1853288|The presence of an increased mass of red blood cells in the circulation.|HPO|N|
C1853294|Syndactyly type I (185900) is an autosomal dominant limb malformation characterized in its classical form by complete or partial webbing between the third and fourth fingers and/or the second and third toes. Zygodactyly is a subtype of type I syndactyly in which webbing of second and third toes occurs without hand involvement (summary by Malik et al., 2005).|OMIM|N|
C1853296|Spondylocostal dysostosis (SCDO), defined radiographically as multiple segmentation defects of the vertebrae (M-SDV) in combination with abnormalities of the ribs, is characterized clinically by: a short trunk in proportion to height; short neck; non-progressive mild scoliosis in most affected individuals, and occasionally, more significant scoliosis. Respiratory function in neonates may be compromised by reduced size of the thorax. By age two years lung growth may improve sufficiently to support relatively normal growth and development; however, even then life-threatening complications can occur, especially pulmonary hypertension in children with severely restricted lung capacity from birth. Males with SCDO appear to be at increased risk for inguinal hernia.|GeneReviews|N|
C1853297|Maturity-onset diabetes of the young type 8 (MODY8) is characterized by onset of diabetes before age 25 years, with slowly progressive pancreatic exocrine dysfunction, fatty replacement of pancreatic parenchyma (lipomatosis), and development of pancreatic cysts. Patients do not present clinical signs of chronic pancreatitis (summary by Johansson et al., 2018).
For a phenotypic description and discussion of genetic heterogeneity of MODY, see 606391.|OMIM|N|
C1853354|Epidermolysis bullosa simplex (EBS) is characterized by fragility of the skin (and mucosal epithelia in some instances) that results in non-scarring blisters and erosions caused by minor mechanical trauma. EBS is distinguished from other types of epidermolysis bullosa (EB) or non-EB skin fragility syndromes by the location of the blistering in relation to the dermal-epidermal junction. In EBS, blistering occurs within basal keratinocytes. The severity of blistering ranges from limited to hands and feet to widespread involvement. Additional features can include hyperkeratosis of the palms and soles (keratoderma), nail dystrophy, milia, and hyper- and/or hypopigmentation. Rare EBS subtypes have been associated with additional clinical features including pyloric atresia, muscular dystrophy, cardiomyopathy, and/or nephropathy.|GeneReviews|N|
C1853360|An Alzheimer's disease that is characterized by an associated with variation in the region 9p22.1.|MONDO|N|
C1853371|Maturity-onset diabetes of the young (MODY) is a group of several conditions characterized by abnormally high levels of blood glucose, also called blood sugar. These forms of diabetes typically begin before age 30, although they can occur later in life. In MODY, elevated blood glucose arises from reduced production of insulin, which is a hormone produced in the pancreas that helps regulate blood glucose levels. Specifically, insulin controls how much glucose (a type of sugar) is passed from the blood into cells, where it is used as an energy source.\n\nThe different types of MODY are distinguished by their genetic causes. The most common types are HNF1A-MODY (also known as MODY3), accounting for 50 to 70 percent of cases, and GCK-MODY (MODY2), accounting for 30 to 50 percent of cases. Less frequent types include HNF4A-MODY (MODY1) and renal cysts and diabetes (RCAD) syndrome (also known as HNF1B-MODY or MODY5), which each account for 5 to 10 percent of cases. At least ten other types have been identified, and these are very rare.\n\nHNF1A-MODY and HNF4A-MODY have similar signs and symptoms that develop slowly over time. Early signs and symptoms in these types are caused by high blood glucose and may include frequent urination (polyuria), excessive thirst (polydipsia), fatigue, blurred vision, weight loss, and recurrent skin infections. Over time uncontrolled high blood glucose can damage small blood vessels in the eyes and kidneys. Damage to the light-sensitive tissue at the back of the eye (the retina) causes a condition known as diabetic retinopathy that can lead to vision loss and eventual blindness. Kidney damage (diabetic nephropathy) can lead to kidney failure and end-stage renal disease (ESRD). While these two types of MODY are very similar, certain features are particular to each type. For example, babies with HNF4A-MODY tend to weigh more than average or have abnormally low blood glucose at birth, even though other signs of the condition do not occur until childhood or young adulthood. People with HNF1A-MODY have a higher-than-average risk of developing noncancerous (benign) liver tumors known as hepatocellular adenomas.\n\nGCK-MODY is a very mild type of the condition. People with this type have slightly elevated blood glucose levels, particularly in the morning before eating (fasting blood glucose). However, affected individuals often have no symptoms related to the disorder, and diabetes-related complications are extremely rare.\n\nRCAD is associated with a combination of diabetes and kidney or urinary tract abnormalities (unrelated to the elevated blood glucose), most commonly fluid-filled sacs (cysts) in the kidneys. However, the signs and symptoms are variable, even within families, and not everyone with RCAD has both features. Affected individuals may have other features unrelated to diabetes, such as abnormalities of the pancreas or liver or a form of arthritis called gout.|MedlinePlus Genetics|N|
C1853377|Increase in size of the cisterna magna, one of three principal openings in the subarachnoid space between the arachnoid and pia mater, located between the cerebellum and the dorsal surface of the medulla oblongata.|HPO|N|
C1853392|Immunodeficiency-41 is an autosomal recessive complex disorder of immune dysregulation. Affected individuals present in infancy with recurrent viral, fungal, and bacterial infections, lymphadenopathy, and variable autoimmune features, such as autoimmune enteropathy and eczematous skin lesions. Immunologic studies show a defect in T-cell regulation (summary by Goudy et al., 2013).|OMIM|N|
C1853394|Horizontal nystagmus made apparent by looking to the right or to the left.|HPO|N|
C1853396|ALS2-related disorder involves retrograde degeneration of the upper motor neurons of the pyramidal tracts and comprises a clinical continuum of the following three phenotypes: Infantile ascending hereditary spastic paraplegia (IAHSP), characterized by onset of spasticity with increased reflexes and sustained clonus of the lower limbs within the first two years of life, progressive weakness and spasticity of the upper limbs by age seven to eight years, and wheelchair dependence in the second decade with progression toward severe spastic tetraparesis and a pseudobulbar syndrome caused by progressive cranial nerve involvement. Juvenile primary lateral sclerosis (JPLS), characterized by upper motor neuron findings of pseudobulbar palsy and spastic quadriplegia without dementia or cerebellar, extrapyramidal, or sensory signs. Juvenile amyotrophic lateral sclerosis (JALS or ALS2), characterized by onset between ages three and 20 years. All affected individuals show a spastic pseudobulbar syndrome (spasticity of speech and swallowing) together with spastic paraplegia. Some individuals are bedridden by age 12 to 50 years.|GeneReviews|N|
C1853404|Spasticity of one or more muscles innervated by the facial nerve.|HPO|N|
C1853438|An inflammatory bowel disease that has material basis in variation in the chromosome region 5q31.|MONDO|N|
C1853444|Heterotaxy ('heter' meaning 'other' and 'taxy' meaning 'arrangement'), or situs ambiguus, is a developmental condition characterized by randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another (Srivastava, 1997). Heterotaxy is a clinically and genetically heterogeneous disorder.
For a discussion of the genetic heterogeneity of visceral heterotaxy, see HTX1 (306955).|OMIM|N|
C1853445|Parkinson's disease is a progressive disorder of the nervous system. The disorder affects several regions of the brain, especially an area called the substantia nigra that controls balance and movement.\n\nOften the first symptom of Parkinson's disease is trembling or shaking (tremor) of a limb, especially when the body is at rest. Typically, the tremor begins on one side of the body, usually in one hand. Tremors can also affect the arms, legs, feet, and face. Other characteristic symptoms of Parkinson's disease include rigidity or stiffness of the limbs and torso, slow movement (bradykinesia) or an inability to move (akinesia), and impaired balance and coordination (postural instability). These symptoms worsen slowly over time.\n\nParkinson's disease can also affect emotions and thinking ability (cognition). Some affected individuals develop psychiatric conditions such as depression and visual hallucinations. People with Parkinson's disease also have an increased risk of developing dementia, which is a decline in intellectual functions including judgment and memory.\n\nGenerally, Parkinson's disease that begins after age 50 is called late-onset disease. The condition is described as early-onset disease if signs and symptoms begin before age 50. Early-onset cases that begin before age 20 are sometimes referred to as juvenile-onset Parkinson's disease.|MedlinePlus Genetics|N|
C1853451|An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 4q35-qter.|MONDO|N|
C1853477|Stature (adult height) is an example of a complex genetic trait involving multiple genetic loci. Although complex traits are often difficult to study by linkage analysis, Hirschhorn et al. (2001) suggested that stature is a suitable complex trait for study because of the high heritability and the relatively limited contribution of environmental factors. Thus, linkage analysis has been used to identify quantitative trait loci for stature (STQTL) including STQTL1 on chromosome 6q24, STQTL2 (606256) on chromosome 7q31-q36, STQTL3 (606257) on chromosome 12p11-q14, STQTL4 (606258) on chromosome 13q32-q33, STQTL5 (608982) on chromosome 3p26, STQTL6 (300591) on chromosome Xq24, STQTL7 (609822) on chromosome 1p21, STQTL8 (610114) on chromosome 9q22, STQTL9 (611547) on chromosome 12q14.3, STQTL10 (612221)  on chromosome 3q23, STQTL11 (612223) on chromosome 7q21-q22, STQTL12 (612224) on chromosome 4q28-q32, STQTL13 (612226) on chromosome 4p13.3, STQTL14 (612228) on chromosome 20q11.22, STQTL15 (612578) on chromosome 8q21.13, STQTL16 (612579) on chromosome 15q22.31, STQTL17 (612737) on chromosome 7p15, STQTL18 (612892) on chromosome 6p22.1, STQTL19 (612893) on chromosome 6p21.31, STQTL20 (612894) on chromosome 13q14.3, STQTL21 (613440) on chromosome 2q37.1, STQTL22 (613547) on chromosome 16q24, STQTL23 (613548) on chromosome 1p32, and STQTL24 (613549) on chromosome 2p16.
See also X-linked short stature (300582) associated with mutations in the SHOX gene (312865).
Associations Pending Confirmation
For discussion of a possible association between short stature and variation in the CYP26C1 gene, see 608428.|OMIM|N|
C1853486|Frontal hairline with bilateral arcs to a low point in the midline of the forehead.|HPO|N|
C1853487|Increased density/number and/or increased diameter of eyebrow hairs.|HPO|N|
C1853490|Phelan-McDermid syndrome is characterized by neonatal hypotonia, absent to severely delayed speech, developmental delay, and minor dysmorphic facial features. Most affected individuals have moderate to profound intellectual disability. Other features include large fleshy hands, dysplastic toenails, and decreased perspiration that results in a tendency to overheat. Normal stature and normal head size distinguishes Phelan-McDermid syndrome from other autosomal chromosome disorders. Behavior characteristics include mouthing or chewing non-food items, decreased perception of pain, and autism spectrum disorder or autistic-like affect and behavior.|GeneReviews|N|
C1853508|Any atrioventricular septal defect in which the cause of the disease is a mutation in the CRELD1 gene.|MONDO|N|
C1853509|Heterotaxy syndrome is a condition in which the internal organs are abnormally arranged in the chest and abdomen. The term "heterotaxy" is from the Greek words "heteros," meaning "other than," and "taxis," meaning "arrangement." Individuals with this condition have complex birth defects affecting the heart, lungs, liver, spleen, intestines, and other organs.\n\nIn the normal body, most of the organs in the chest and abdomen have a particular location on the right or left side. For example, the heart, spleen, and pancreas are on the left side of the body, and most of the liver is on the right. This normal arrangement of the organs is known as "situs solitus." Rarely, the orientation of the internal organs is completely flipped from right to left, a situation known as "situs inversus." This mirror-image orientation usually does not cause any health problems, unless it occurs as part of a syndrome affecting other parts of the body. Heterotaxy syndrome is an arrangement of internal organs somewhere between situs solitus and situs inversus; this condition is also known as "situs ambiguus." Unlike situs inversus, the abnormal arrangement of organs in heterotaxy syndrome often causes serious health problems.\n\nHeterotaxy syndrome can alter the structure of the heart, including the attachment of the large blood vessels that carry blood to and from the rest of the body. It can also affect the structure of the lungs, such as the number of lobes in each lung and the length of the tubes (called bronchi) that lead from the windpipe to the lungs. In the abdomen, the condition can cause a person to have no spleen (asplenia) or multiple small, poorly functioning spleens (polysplenia). The liver may lie across the middle of the body instead of being in its normal position to the right of the stomach. Some affected individuals also have intestinal malrotation, which is an abnormal twisting of the intestines that occurs in the early stages of development before birth.\n\nThe severity of heterotaxy syndrome varies depending on the specific abnormalities involved. Some affected individuals have only mild health problems related to the condition. At the other end of the spectrum, heterotaxy syndrome can be life-threatening in infancy or childhood, even with treatment.\n\nDepending on the organs involved, signs and symptoms of heterotaxy syndrome can include a bluish appearance of the skin or lips (cyanosis, which is due to a shortage of oxygen), breathing difficulties, an increased risk of infections, and problems with digesting food. The most serious complications are generally caused by critical congenital heart disease, a group of complex heart defects that are present from birth. Biliary atresia, a problem with the bile ducts in the liver, can also cause severe health problems in infancy.|MedlinePlus Genetics|N|
C1853555|An Alzheimer's disease that is characterized by an associated with variation in the region 10p13.|MONDO|N|
C1853566|KAT6B disorders include genitopatellar syndrome (GPS) and Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome (SBBYSS) which are part of a broad phenotypic spectrum with variable expressivity; individuals presenting with a phenotype intermediate between GPS and SBBYSS have been reported. Both phenotypes are characterized by some degree of global developmental delay / intellectual disability; hypotonia; genital abnormalities; and skeletal abnormalities including patellar hypoplasia/agenesis, flexion contractures of the knees and/or hips, and anomalies of the digits, spine, and/or ribs. Congenital heart defects, small bowel malrotation, feeding difficulties, slow growth, cleft palate, hearing loss, and dental anomalies have been observed in individuals with either phenotype.|GeneReviews|N|
C1853573|Underdevelopment of the lower branch of the pubis bone (inferior pubic ramus).|HPO|N|
C1853578|Neuroferritinopathy is an adult-onset progressive movement disorder characterized by chorea or dystonia and speech and swallowing deficits. The movement disorder typically affects one or two limbs and progresses to become more generalized within 20 years of disease onset. When present, asymmetry in the movement abnormalities remains throughout the course of the disorder. Most individuals develop a characteristic orofacial action-specific dystonia related to speech that leads to dysarthrophonia. Frontalis overactivity and orolingual dyskinesia are common. Cognitive deficits and behavioral issues become major problems with time.|GeneReviews|N|
C1853618|Increased dimensions of the Virchow-Robin spaces (also known as perivascular spaces), which surround the walls of vessels as they course from the subarachnoid space through the brain parenchyma. Perivascular spaces are commonly microscopic, and not visible on conventional neuroimaging. This term refers to an increase of size of these spaces such that they are visible on neuroimaging (usually magnetic resonance imaging). The dilatations are regular cavities that always contain a patent artery.|HPO|N|
C1853623|Baraitser-Winter syndrome (BRWS) is a rare developmental phenotype characterized by the combination of hypertelorism, broad nose with large tip and prominent root, congenital nonmyopathic ptosis, ridged metopic suture, arched eyebrows, iris or retinal coloboma, sensorineural deafness, shoulder girdle muscle bulk and progressive joint stiffness, and pachygyria with anteroposterior severity gradient, rarely lissencephaly or neuronal heterotopia. Cleft lip and palate, hallux duplex, congenital heart defects and renal tract anomalies are seen in some cases. Microcephaly may develop with time. Early muscular involvement, occasionally with congenital arthrogryposis, may be present. Intellectual disability and epilepsy are variable in severity and largely correlate with central nervous system anomalies (summary by Verloes et al., 2015). Di Donato et al. (2014) and Verloes et al. (2015) suggested that BRWS, Fryns-Aftimos syndrome, and cerebrofrontofacial syndrome represent the same clinical entity. The phenotype is highly variable (summary by Cuvertino et al., 2017).
Genetic Heterogeneity of Baraitser-Winter Syndrome
Baraitser-Winter syndrome-2 (BRWS2; 614583) is caused by heterozygous mutation in the ACTG1 gene (102560) on chromosome 17q25.|OMIM|N|
C1853638|Increased side-to-side width of the neck.|HPO|N|
C1853666|Diamond-Blackfan anemia (DBA) is characterized by a profound normochromic and usually macrocytic anemia with normal leukocytes and platelets, congenital malformations in up to 50%, and growth deficiency in 30% of affected individuals. The hematologic complications occur in 90% of affected individuals during the first year of life. The phenotypic spectrum ranges from a mild form (e.g., mild anemia or no anemia with only subtle erythroid abnormalities, physical malformations without anemia) to a severe form of fetal anemia resulting in nonimmune hydrops fetalis. DBA is associated with an increased risk for acute myelogenous leukemia (AML), myelodysplastic syndrome (MDS), and solid tumors including osteogenic sarcoma.|GeneReviews|N|
C1853686|Multinodular goiter is a common disorder characterized by nodular enlargement of the thyroid gland (summary by Takahashi et al., 2001).
For additional phenotypic information and a discussion of genetic heterogeneity of multinodular goiter, see MNG1 (138800).|OMIM|N|
C1853698|A benign myopathy with symptoms and signs of muscular hyperexcitability. The typical finding is electrically silent muscle contractions provoked by mechanical stimuli and stretch|MONDO|N|
C1853702|Percussion-induced, local prolonged contractions (mounding) in muscle persisting for several seconds.|HPO|N|
C1853710|The autosomal dominant TRPV4 disorders (previously considered to be clinically distinct phenotypes before their molecular basis was discovered) are now grouped into neuromuscular disorders and skeletal dysplasias; however, the overlap within each group is considerable. Affected individuals typically have either neuromuscular or skeletal manifestations alone, and in only rare instances an overlap syndrome has been reported. The three autosomal dominant neuromuscular disorders (mildest to most severe) are: Charcot-Marie-Tooth disease type 2C. Scapuloperoneal spinal muscular atrophy. Congenital distal spinal muscular atrophy. The autosomal dominant neuromuscular disorders are characterized by a congenital-onset, static, or later-onset progressive peripheral neuropathy with variable combinations of laryngeal dysfunction (i.e., vocal fold paresis), respiratory dysfunction, and joint contractures. The six autosomal dominant skeletal dysplasias (mildest to most severe) are: Familial digital arthropathy-brachydactyly. Autosomal dominant brachyolmia. Spondylometaphyseal dysplasia, Kozlowski type. Spondyloepiphyseal dysplasia, Maroteaux type. Parastremmatic dysplasia. Metatropic dysplasia. The skeletal dysplasia is characterized by brachydactyly (in all 6); the five that are more severe have short stature that varies from mild to severe with progressive spinal deformity and involvement of the long bones and pelvis. In the mildest of the autosomal dominant TRPV4 disorders life span is normal; in the most severe it is shortened. Bilateral progressive sensorineural hearing loss (SNHL) can occur with both autosomal dominant neuromuscular disorders and skeletal dysplasias.|GeneReviews|N|
C1853723|Vocal cord and pharyngeal distal myopathy (VCPDM) is a rare autosomal dominant distal myopathy characterized by adult onset of muscle weakness in the feet and hands (slowly progressing to involve proximal limb muscles) combined with vocal or swallowing dysfunction and frequent respiratory muscle involvement in later stages. Normal to mildly elevated creatine kinase (CK) serum levels and rimmed-vacuolated dystrophic muscle fiber changes are associated laboratory and pathologic findings.|ORDO|N|
C1853733|Hemochromatosis type 4 (HFE4) is a dominantly inherited iron overload disorder with heterogeneous phenotypic manifestations that can be classified into 2 groups. One group is characterized by an early rise in ferritin (see 134790) levels with low to normal transferrin (190000) saturation and iron accumulation predominantly in macrophages. The other group is similar to classical hemochromatosis, with high transferrin saturation and prominent parenchymal iron loading (summary by De Domenico et al., 2005).
For general background information and a discussion of genetic heterogeneity of hereditary hemochromatosis, see 235200.|OMIM|N|
C1853736|A form of congenital disorders of N-linked glycosylation characterized by generalized hypotonia, craniofacial dysmorphism (prominent occiput, short palpebral fissures, long eyelashes, broad nose, high arched palate, retrognathia), hypoplastic genitalia, seizures, feeding difficulties, hypoventilation, severe hypogammaglobulinemia with generalized edema and increased resistance to particular viral infections (particularly to enveloped viruses). The disease is caused by loss-of-function mutations in the gene MOGS (2p13.1).|SNOMEDCT_US|N|
C1853737|Increased convexity of the occiput (posterior part of the skull).|HPO|N|
C1853738|Mid upper eyelash length >10 mm or increased length of the eyelashes (subjective).|HPO|N|
C1853743|Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk.|HPO|N|
C1853755|IDDAS is a neurodevelopmental disorder characterized by varying degrees of intellectual disability, autism spectrum disorder, and language deficits (Deriziotis et al., 2014; den Hoed et al., 2018).|OMIM|N|
C1853760|An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 3q22.|MONDO|N|
C1853761|Ataxia with oculomotor apraxia type 2 (AOA2) is characterized by onset of ataxia between age three and 30 years after initial normal development, axonal sensorimotor neuropathy, oculomotor apraxia, cerebellar atrophy, and elevated serum concentration of alpha-fetoprotein (AFP).|GeneReviews|N|
C1853766|Atrophy affecting the pons and the cerebellum.|HPO|N|
C1853767|A decrease in the ability to perceive vibration in the distal portions of the limbs.|HPO|N|
C1853812|Syndrome with characteristics of a combination of distal limb abnormalities (syndactyly of all fingers and toes, preaxial polydactyly in the feet and/or hands) and upper sternum malformations. It has been described in 22 patients from a six-generation Turkish family. It is transmitted as an autosomal dominant trait and the causative gene is located at 7q36.|SNOMEDCT_US|N|
C1853825|Characterised by metaphyseal undermodelling with broadening of the long bones and femora with an ''Erlenmeyer flask'' appearance, expansion and bowing of the radii with severe varus deformity and flat exostoses of the long bones at the metadiaphyseal junctions. It has been described in four German families originating from the same town in Bohemia and in a 7-year-old Japanese girl. Transmission is autosomal dominant.|SNOMEDCT_US|N|
C1853830|A holoprosencephaly that has material basis in variation in the chromosome region 2q37.1-q37.3.|MONDO|N|
C1853831|East Texas bleeding disorder is a rare, genetic, coagulation disorder characterized by easy bruising (without hemarthrosis or spontaneous hematomas), epistaxis, menorrhagia, and excessive bleeding after minor trauma and surgical procedures. Patients present a prolonged prothrombin time and/or activated partial thromboplastin time, normal levels of all coagulation factors, and normal protein C activity.|ORDO|N|
C1853833|PINK1 type of young-onset Parkinson disease is characterized by early onset (mean age 33 years) of tremor, bradykinesia, and rigidity that are often indistinguishable from other causes of Parkinson disease. Lower-limb dystonia may be a presenting sign. Postural instability, hyperreflexia, abnormal behavior, and psychiatric manifestations have been described. The disease is usually slowly progressive. Individuals have a marked and sustained response to oral administration of levodopa (L-dopa), frequently associated with L-dopa-induced fluctuations and dyskinesias.|GeneReviews|N|
C1853892|Dimethylglycine dehydrogenase deficiency (DMGDHD) is an inborn error of metabolism characterized by a fish-like odor, chronic fatigue, and increased level of the muscle form of creatine kinase in serum (Moolenaar et al., 1999).|OMIM|N|
C1853899|An inherited susceptibility or predisposition to developing atopic dermatitis that is associated with variation in the region 5q31-q33.|MONDO|N|
C1853900|An inherited susceptibility or predisposition to developing atopic dermatitis that is associated with variation in the region 13q12-q14.|MONDO|N|
C1853901|Narcolepsy also affects nighttime sleep. Most affected individuals have trouble sleeping for more than a few hours at night. They often experience vivid hallucinations while falling asleep (hypnogogic hallucinations) or while waking up (hypnopompic hallucinations). Affected individuals often have realistic and distressing dreams, and they may act out their dreams by moving excessively or talking in their sleep. Many people with narcolepsy also experience sleep paralysis, which is an inability to move or speak for a short period while falling asleep or awakening. The combination of hallucinations, vivid dreams, and sleep paralysis is often frightening and unpleasant for affected individuals.\n\nAnother common feature of narcolepsy is cataplexy, which is a sudden loss of muscle tone in response to strong emotion (such as laughing, surprise, or anger). These episodes of muscle weakness can cause an affected person to slump over or fall, which occasionally leads to injury. Episodes of cataplexy usually last just a few seconds, and they may occur from several times a day to a few times a year. Most people diagnosed with narcolepsy also have cataplexy. However, some do not, which has led researchers to distinguish two major forms of the condition: narcolepsy with cataplexy and narcolepsy without cataplexy.\n\nNarcolepsy is characterized by excessive daytime sleepiness. Affected individuals feel tired during the day, and several times a day they may experience an overwhelming urge to sleep. "Sleep attacks" can occur at unusual times, such as during a meal or in the middle of a conversation. They last from a few seconds to a few minutes and often lead to a longer nap, after which affected individuals wake up feeling refreshed.\n\nSome people with narcolepsy have all of the major features of the disorder, while others have only one or two. Most of the signs and symptoms persist throughout life, although episodes of cataplexy may become less frequent with age and treatment.\n\nNarcolepsy is a chronic sleep disorder that disrupts the normal sleep-wake cycle. Although this condition can appear at any age, it most often begins in adolescence.|MedlinePlus Genetics|N|
C1853903|An abnormality of Krebs cycle metabolism that is characterized by a decreased rate of fumarate hydratase activity.|HPO|N|
C1853919|Generalized basaloid follicular hamartoma syndrome is a rare, genetic skin disease characterized by multiple milium-like, comedone-like lesions and skin-colored to hyperpigmented, 1 to 2 mm-sized papules, associated with hypotrichosis and palmar/plantar pits. Lesions are usually first noticed on cheeks or neck and gradually increase in size and number to involve the scalp, face, ears, shoulders, chest, axillas, and upper arms. In severe cases, lower back, lower arms, and back of the legs can be involved. Mild hypohidrosis has also been reported.|ORDO|N|
C1853926|GNE myopathy is a slowly progressive muscle disease that typically presents between age 20 and 40 years with bilateral foot drop caused by anterior tibialis weakness. Lower-extremity muscle involvement progresses from the anterior to the posterior compartment of the lower leg, followed by hamstrings, then hip girdle muscles, with relative sparing of the quadriceps. A wheelchair may be needed about ten to 20 years after the onset of manifestations. The upper extremities, which may be affected within five to ten years of disease onset, do not necessarily follow a distal-to-proximal progression. In advanced stages, neck and core muscles can become affected.|GeneReviews|N|
C1853932|Presence of abnormal vacuoles (membrane-bound organelles) in the sarcolemma. On histological staining with hematoxylin and eosin, rimmed vacuoles are popcorn-like clear vacuoles with a densely blue rim. The vacuoles are often associated with cytoplasmic and occasionally intranuclear eosinophilic inclusions.|HPO|N|
C1853941|An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 2q23-q31.|MONDO|N|
C1853942|Citrin deficiency can manifest in newborns or infants as neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD), in older children as failure to thrive and dyslipidemia caused by citrin deficiency (FTTDCD), and in adults as recurrent hyperammonemia with neuropsychiatric symptoms in citrullinemia type II (CTLN2). Often citrin deficiency is characterized by strong preference for protein-rich and/or lipid-rich foods and aversion to carbohydrate-rich foods. NICCD. Children younger than age one year have a history of low birth weight with growth restriction and transient intrahepatic cholestasis, hepatomegaly, diffuse fatty liver, and parenchymal cellular infiltration associated with hepatic fibrosis, variable liver dysfunction, hypoproteinemia, decreased coagulation factors, hemolytic anemia, and/or hypoglycemia. NICCD is generally not severe and symptoms often resolve by age one year with appropriate treatment, although liver transplantation has been required in rare instances. FTTDCD. Beyond age one year, many children with citrin deficiency develop a protein-rich and/or lipid-rich food preference and aversion to carbohydrate-rich foods. Clinical abnormalities may include growth restriction, hypoglycemia, pancreatitis, severe fatigue, anorexia, and impaired quality of life. Laboratory changes are dyslipidemia, increased lactate-to-pyruvate ratio, higher levels of urinary oxidative stress markers, and considerable deviation in tricarboxylic acid (TCA) cycle metabolites. One or more decades later, some individuals with NICCD or FTTDCD develop CTLN2. CTLN2. Presentation is sudden and usually between ages 20 and 50 years. Manifestations are recurrent hyperammonemia with neuropsychiatric symptoms including nocturnal delirium, aggression, irritability, hyperactivity, delusions, disorientation, restlessness, drowsiness, loss of memory, flapping tremor, convulsive seizures, and coma. Symptoms are often provoked by alcohol and sugar intake, medication, and/or surgery. Affected individuals may or may not have a prior history of NICCD or FTTDCD.|GeneReviews|N|
C1853952|An abnormal reduction in the amplitude of the miniature endplate potentials, i.e. the postsynaptic response to transmitter released from an individual vesicle at the neuromuscular junction.|HPO|N|
C1853959|Multiple cream-yellow colored hypopigmented lesions typically located at the level of the choroid or retinal pigment epithelium; ovoid, cream-colored with indistinct borders. They are between 50 and 1,500 micrometers in size with a characteristic nasal, radial distribution in the postequatorial fundus.|HPO|N|
C1853963|An inherited susceptibility or predisposition to developing atopic dermatitis that is associated with variation in the region 17q25.3.|MONDO|N|
C1853964|An inherited susceptibility or predisposition to developing atopic dermatitis that is associated with variation in the region 20p.|MONDO|N|
C1853965|Atopic dermatitis (also known as atopic eczema) is a disorder characterized by inflammation of the skin (dermatitis). The condition usually begins in early infancy, and it often disappears before adolescence. However, in some affected individuals the condition continues into adulthood; in others, it does not begin until adulthood. Hallmarks of atopic dermatitis include dry, itchy skin and red rashes that come and go. The rashes can occur on any part of the body, although the pattern tends to be different at different ages. In affected infants, the rashes commonly occur on the face, scalp, hands, and feet. In children, the rashes are usually found in the bend of the elbows and knees and on the front of the neck. In adolescents and adults, the rashes typically occur on the wrists, ankles, and eyelids in addition to the bend of the elbows and knees. Scratching the itchy skin can lead to oozing and crusting of the rashes and thickening and hardening (lichenification) of the skin. The itchiness can be so severe as to disturb sleep and impair a person's quality of life.\n\nThe word "atopic" indicates an association with allergies. While atopic dermatitis is not always due to an allergic reaction, it is commonly associated with other allergic disorders: up to 60 percent of people with atopic dermatitis develop asthma or hay fever (allergic rhinitis) later in life, and up to 30 percent have food allergies. Atopic dermatitis is often the beginning of a series of allergic disorders, referred to as the "atopic march." Development of these disorders typically follows a pattern, beginning with atopic dermatitis, followed by food allergies, then hay fever, and finally asthma. However, not all individuals with atopic dermatitis will progress through the atopic march, and not all individuals with one allergic disease will develop others.\n\nIndividuals with atopic dermatitis have an increased risk of developing other conditions related to inflammation, such as inflammatory bowel disease, rheumatoid arthritis, and hair loss caused by a malfunctioning immune reaction (alopecia areata). They also have an increased risk of having a behavioral or psychiatric disorder, such as attention-deficit/hyperactivity disorder (ADHD) or depression.\n\nIn a particular subset of individuals with atopic dermatitis, the immune system is unable to protect the body from foreign invaders such as bacteria and fungi (which is known as immunodeficiency). These individuals are prone to recurrent infections. Most also have other allergic disorders, such as asthma, hay fever, and food allergies.\n\nAtopic dermatitis can also be a feature of separate disorders that have a number of signs and symptoms, which can include skin abnormalities and immunodeficiency. Some such disorders are Netherton syndrome; immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome; and severe dermatitis, multiple allergies, metabolic wasting (SAM) syndrome.|MedlinePlus Genetics|N|
C1853986|Abnormal flat nail.|HPO|N|
C1853995|PRRT2-associated paroxysmal movement disorders (PRRT2-PxMD) include paroxysmal kinesigenic dyskinesia (PKD), benign familial infantile epilepsy (BFIE), paroxysmal kinesigenic dyskinesia with infantile convulsions (PKD/IC), and hemiplegic migraine (HM). In addition, PRRT2 pathogenic variants have been identified in other childhood-onset movement disorders and different types of seizures, suggesting that the understanding of the spectrum of PRRT2-PxMD is still evolving. The paroxysmal attacks in PKD are characterized by dystonia, choreoathetosis, and less commonly ballismus. The seizures of BFIE are usually focal with or without generalization. Thirty percent of PRRT2-associated PKD is associated with BFIE and is referred to as PKD/IC.|GeneReviews|N|
C1854002|Familial exudative vitreoretinopathy (FEVR) is an inherited disorder characterized by the incomplete development of the retinal vasculature. Its clinical appearance varies considerably, even within families, with severely affected patients often registered as blind during infancy, whereas mildly affected patients with few or no visual problems may have such a small area of avascularity in their peripheral retina that it is visible only by fluorescein angiography. It is believed that this peripheral avascularity is the primary anomaly in FEVR and results from defective retinal angiogenesis. The sight-threatening features of the FEVR phenotype are considered secondary to retinal avascularity and develop because of the resulting retinal ischemia; they include the development of hyperpermeable blood vessels, neovascularization, vitreoretinal traction, retinal folds, and retinal detachments (summary by Poulter et al., 2010).
For a discussion of genetic heterogeneity of familial exudative vitreoretinopathy, see EVR1 (133780).|OMIM|N|
C1854003|A locus on chromosome 9q12-q22 has been found for multiple types of cataract in 1 family. These include cortical, pulverulent, nuclear, and posterior subcapsular cataracts.
The preferred title/symbol for this entry was formerly 'Cataract, Autosomal Recessive, Early-Onset, Pulverulent; CAAR.'|OMIM|N|
C1854013|The presence of asymmetrical breasts.|HPO|N|
C1854021|A cataract that has material basis in variation in the region 15q21-q22.|MONDO|N|
C1854023|Autosomal recessive distal hereditary motor neuronopathy-2 (HMNR2) is a neuromuscular disorder characterized by onset of distal muscle weakness and wasting affecting the lower and upper limbs in the first decade; there is no sensory involvement (summary by Li et al., 2015).
For a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive HMN, see HMNR1 (604320).|OMIM|N|
C1854058|Spinal muscular atrophy is characterized by degeneration of the anterior horn cells in the spinal cord, leading to symmetric muscle weakness and wasting.
See also autosomal recessive adult-onset proximal spinal muscular atrophy (SMA4; 271150), caused by defect in the SMN1 gene (600354), and autosomal dominant childhood-onset proximal SMA (158600).|OMIM|N|
C1854063|Dilated cardiomyopathy with woolly hair and keratoderma (DCWHK) is characterized by the presence of woolly or sparse hair from birth. Some patients exhibit fragile skin with blisters/erosions after minor mechanical trauma, with hyperkeratosis and epidermolytic keratoderma developing in early childhood. Cardiomyopathy may become apparent in the first decade of life, and early death due to heart failure has been reported, but patients may remain asymptomatic into the fourth decade of life. Some patients exhibit an arrhythmogenic form of cardiomyopathy, with sudden death in early adulthood (Carvajal-Huerta, 1998; Whittock et al., 2002; Alcalai et al., 2003; Uzumcu et al., 2006).
Another syndrome involving cardiomyopathy, woolly hair, and keratoderma (Naxos disease; 601214) is caused by mutation in the plakoglobin gene (JUP; 173325). Also see 610476 for a similar disorder caused by homozygous mutation in the DSC2 gene (125645).
Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis (DCWHKTA; 615821) is caused by heterozygous mutation in DSP. An isolated form of striated PPK (PPKS2; 612908) is also caused by heterozygous mutation in DSP.
Reviews
In a review of cardiocutaneous syndromes and arrhythmogenic cardiomyopathy, Sen-Chowdhry and McKenna (2014) stated that although the cardiac component of Carvajal syndrome was originally considered dilated cardiomyopathy, many of its features resemble those of arrhythmogenic cardiomyopathy (see 607450). In addition, they noted that different disease subtypes have been found to coexist within the same kindred, suggesting a role for modifier genes and/or environmental influences.|OMIM|N|
C1854065|Late-onset retinal degeneration (LORD) is an autosomal dominant disorder characterized by onset in the fifth to sixth decade with night blindness and punctate yellow-white deposits in the retinal fundus, progressing to severe central and peripheral degeneration, with choroidal neovascularization and chorioretinal atrophy (Hayward et al., 2003).|OMIM|N|
C1854104|An extremely rare inherited tumor syndrome within the familial nonmedullary thyroid cancer group.|ORDO|N|
C1854106|Congenital myopathy-6 with ophthalmoplegia (CMYP6) is a relatively mild muscle disorder characterized by childhood onset of symptoms. The disorder is either slowly progressive or nonprogressive, and affected individuals retain ambulation, although there is variable severity. CMYP6 can show both autosomal dominant and autosomal recessive inheritance; the phenotype is similar in both forms (summary by Lossos et al., 2005 and Tajsharghi et al., 2014).
For a discussion of genetic heterogeneity of congenital myopathy, see CMYP1A (117000).|OMIM|N|
C1854107|Familial hyperaldosteronism type II (HALD2) is an autosomal dominant disorder characterized by hypertension due to increased aldosterone, often with hypokalemia. Patients usually present before age 20 years, although some may present in infancy. The disorder shows incomplete penetrance and variable expressivity; some patients may have normal blood pressure but have an increased aldosterone:renin ratio (ARR) on laboratory testing. Spironolactone is an effective treatment (summary by Scholl et al., 2018).
For a general phenotypic description and a discussion of genetic heterogeneity of familial hyperaldosteronism, see HALD1 (103900).|OMIM|N|
C1854108|A multisystem malformation syndrome that has been reported in about 10 patients. The clinical features include bilateral anophthalmia, abnormal nares, central nervous system anomalies, and neurodevelopmental delay. Additional features include brachycephaly and other facial anomalies. Non-facial anomalies have also been reported: postaxial polydactyly, genital hypoplasia. All cases reported so far have been sporadic, suggesting that the syndrome may be due to a new dominant mutation.|SNOMEDCT_US|N|
C1854111|Distance between the philtral ridges, measured just above the vermilion border, more than 2 standard deviations above the mean, or alternatively, an apparently increased distance between the ridges of the philtrum.|HPO|N|
C1854113|Anterior positioning of the nasal root in comparison to the usual positioning for age.|HPO|N|
C1854114|Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip.|HPO|N|
C1854125|An inherited susceptibility or predisposition to developing type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 5q31.1-q33.1.|MONDO|N|
C1854150|Charcot-Marie-Tooth disease type 2B2 (CMT2B2) is an autosomal recessive sensorineural axonal peripheral neuropathy manifest as distal muscle weakness and atrophy and distal sensory impairment. The disorder predominantly affects the lower limbs, resulting in gait impairment, although upper limb and hand involvement also occurs. The age at onset and severity is variable: most have onset in the third decade, although earlier onset has been reported. The disorder is slowly progressive, and some patients may lose independent ambulation later in life. More variable features may include ataxia, dysarthria, cerebellar atrophy, and eye movement abnormalities (summary by Leal et al., 2018).
For a phenotypic description and a discussion of genetic heterogeneity of axonal CMT type 2, see CMT2A1 (118210).|OMIM|N|
C1854154|Charcot-Marie-Tooth disease constitutes a clinically and genetically heterogeneous group of hereditary motor and sensory neuropathies. On the basis of electrophysiologic criteria, CMT is divided into 2 major types: type 1, the demyelinating form, characterized by a motor median nerve conduction velocity less than 38 m/s (see CMT1B; 118200); and type 2, the axonal form, with a normal or slightly reduced nerve conduction velocity.
For a phenotypic description and a discussion of genetic heterogeneity of axonal CMT type 2, see CMT2A1 (118210).|OMIM|N|
C1854158|Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the SLC17A8 gene.|MONDO|N|
C1854159|A dilated cardiomyopathy that has material basis in variation in the chromosome region 6q12-q16.|MONDO|N|
C1854180|A cone-rod dystrophy that has material basis in variation in the chromosome region 1q12-q24.|MONDO|N|
C1854181|Hereditary gingival fibromatosis is a benign disorder manifested by a slowly progressive enlargement of the oral gingival tissues (summary by Xiao et al., 2001).
For general phenotypic information and a discussion of genetic heterogeneity of hereditary gingival fibromatosis, see GINGF (135300).|OMIM|N|
C1854182|Parkinson's disease is a progressive disorder of the nervous system. The disorder affects several regions of the brain, especially an area called the substantia nigra that controls balance and movement.\n\nOften the first symptom of Parkinson's disease is trembling or shaking (tremor) of a limb, especially when the body is at rest. Typically, the tremor begins on one side of the body, usually in one hand. Tremors can also affect the arms, legs, feet, and face. Other characteristic symptoms of Parkinson's disease include rigidity or stiffness of the limbs and torso, slow movement (bradykinesia) or an inability to move (akinesia), and impaired balance and coordination (postural instability). These symptoms worsen slowly over time.\n\nParkinson's disease can also affect emotions and thinking ability (cognition). Some affected individuals develop psychiatric conditions such as depression and visual hallucinations. People with Parkinson's disease also have an increased risk of developing dementia, which is a decline in intellectual functions including judgment and memory.\n\nGenerally, Parkinson's disease that begins after age 50 is called late-onset disease. The condition is described as early-onset disease if signs and symptoms begin before age 50. Early-onset cases that begin before age 20 are sometimes referred to as juvenile-onset Parkinson's disease.|MedlinePlus Genetics|N|
C1854187|Alzheimer disease (AD) is a neurodegenerative disorder characterized by subtle onset of memory loss followed by a slowly progressive dementia. The great majority of AD cases are of late onset (LOAD) after age 65 years. LOAD shows complex, nonmendelian patterns of inheritance, and most likely results from the combined effects of variation in a number of genes as well as from environmental factors (summary by Grupe et al., 2006).
The Alzheimer disease-6 (AD6) designation refers to a susceptibility locus on chromosome 10q. Although significant associations with several candidate genes on chromosome 10 have been reported, these findings have not been consistently replicated, and they remain controversial (Grupe et al., 2006).
For a discussion of genetic heterogeneity of Alzheimer disease, see 104300.|OMIM|N|
C1854260|Leber congenital amaurosis comprises a group of early-onset childhood retinal dystrophies characterized by vision loss, nystagmus, and severe retinal dysfunction. Patients usually present at birth with profound vision loss and pendular nystagmus. Electroretinogram (ERG) responses are usually nonrecordable. Other clinical findings may include high hypermetropia, photodysphoria, oculodigital sign, keratoconus, cataracts, and a variable appearance to the fundus (summary by Chung and Traboulsi, 2009).
For a general description and a discussion of genetic heterogeneity of LCA, see 204000.|OMIM|N|
C1854273|Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome is characterised by the association of proximal fusion of the radius and ulna with congenital amegakaryocytic thrombocytopaenia. Less than 10 cases have been reported in the literature so far. The syndrome is transmitted as an autosomal dominant trait and is caused by mutations in the <i>HOXA11</i> gene (7p15).|ORDO|N|
C1854274|DFNB26M is characterized by normal hearing despite the presence of homozygosity for a causative deafness mutation in the GAB1 gene (Yousaf et al., 2018).|OMIM|N|
C1854275|DFNB26 is characterized by prelingual severe to profound nonsyndromic hearing loss (Yousaf et al., 2018).|OMIM|N|
C1854293|Doing or saying again; a repeated performance.|NCI|N|
C1854301|A type of Developmental delay characterized by a delay in acquiring motor skills.|HPO|N|
C1854310|Disorder with characteristics of reduced pilosity over the scalp and body (with sparse, thin, and short hair) in the absence of other anomalies. Prevalence is unknown but numerous large pedigrees with several affected members have been described. Both men and women are equally affected. Hair loss is diffuse and progressive and usually begins during early childhood. Body hair may also be sparse with variable involvement of the eyebrows, eyelashes, and pubic and axillary hair. There are no anomalies of the skin, nails or teeth. A scalp-limited form has also been reported with mutations in the corneodesmosin (CDSN) gene. Both autosomal dominant and recessive modes of transmission have been reported for this disorder.|SNOMEDCT_US|N|
C1854311|Mutations in the CHMP4B gene have been found to cause multiple types of cataract, which have been described as posterior polar, progressive posterior subcapsular, nuclear, and anterior subcapsular.
The preferred title/symbol of this entry was formerly 'Cataract, Posterior Polar, 3; CTPP3.'|OMIM|N|
C1854335|Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is characterized by clusters of nocturnal motor seizures, which are often stereotyped and brief (5 seconds to 5 minutes). They vary from simple arousals from sleep to dramatic, often bizarre hyperkinetic events with tonic or dystonic features. Affected individuals may experience aura. Retained awareness during seizures is common. A minority of individuals experience daytime seizures. Onset ranges from infancy to adulthood. About 80% of individuals develop ADNFLE in the first two decades of life; mean age of onset is ten years. Clinical neurologic examination is normal and intellect is usually preserved, but reduced intellect, psychiatric comorbidity, or cognitive deficits may occur. Within a family, the manifestations of the disorder may vary considerably. ADNFLE is lifelong but not progressive. As an individual reaches middle age, attacks may become milder and less frequent.|GeneReviews|N|
C1854336|Hereditary paraganglioma-pheochromocytoma (PGL/PCC) syndromes are characterized by paragangliomas (tumors that arise from neuroendocrine tissues distributed along the paravertebral axis from the base of the skull to the pelvis) and pheochromocytomas (paragangliomas that are confined to the adrenal medulla). Sympathetic paragangliomas cause catecholamine excess; parasympathetic paragangliomas are most often nonsecretory. Extra-adrenal parasympathetic paragangliomas are located predominantly in the skull base and neck (referred to as head and neck PGL [HNPGL]) and sometimes in the upper mediastinum; approximately 95% of such tumors are nonsecretory. In contrast, sympathetic extra-adrenal paragangliomas are generally confined to the lower mediastinum, abdomen, and pelvis, and are typically secretory. Pheochromocytomas, which arise from the adrenal medulla, typically lead to catecholamine excess. Symptoms of PGL/PCC result from either mass effects or catecholamine hypersecretion (e.g., sustained or paroxysmal elevations in blood pressure, headache, episodic profuse sweating, forceful palpitations, pallor, and apprehension or anxiety). The risk for developing metastatic disease is greater for extra-adrenal sympathetic paragangliomas than for pheochromocytomas.|GeneReviews|N|
C1854368|Sensorineural deafness with dilated cardiomyopathy is an extremely rare autosomal dominant syndrome described in two families to date and characterized by moderate to severe sensorineural hearing loss manifesting during childhood, and associated with late-onset dilated cardiomyopathy that generally progresses to heart failure.|ORDO|N|
C1854369|Spinocerebellar ataxia type 14 (SCA14) is characterized by slowly progressive cerebellar ataxia, dysarthria, and nystagmus. Axial myoclonus, cognitive impairment, tremor, and sensory loss may also be observed. Parkinsonian features including rigidity and tremor have been described in some families. Findings seen in other ataxia disorders (e.g., dysphagia, dysphonia) may also occur in SCA14. The average age of onset is in the 30s, with a range from childhood to the seventh decade. Life span is not shortened.|GeneReviews|N|
C1854372|A decrease in the ability to perceive vibration at the ankles. Clinically, this is usually tested with a tuning fork which vibrates at 128 Hz and is applied to the malleoli of the ankles.|HPO|N|
C1854375|An involuntary abnormality of fixation in which there is an abnormal saccade away from fixation followed by a delayed corrective saccade.|HPO|N|
C1854380|Autosomal recessive severe infantile nemaline myopathy-5A (NEM5A) is a skeletal muscle disorder characterized by symptom onset soon after birth or in early infancy. Affected infants show axial hypotonia, stiffness, rigid spine with progressive kyphosis, pectus deformities, and contractures or limited movement of the large joints. Some patients show transient tremors. There is muscle atrophy and poor gross motor development. Respiratory insufficiency develops in the first years of life, often leading to death. Muscle biopsy shows nemaline rods (Johnston et al., 2000; Geraud et al., 2021).
For a discussion of genetic heterogeneity of nemaline myopathy, see NEM2 (256030).|OMIM|N|
C1854387|An abnormal predominance of type I muscle fibers (in general, this feature can only be observed on muscle biopsy).|HPO|N|
C1854409|Naevus flammeus localized in the skin of the eyelid.|HPO|N|
C1854416|Macrocephaly/autism syndrome is an autosomal dominant disorder characterized by increased head circumference, abnormal facial features, and delayed psychomotor development resulting in autistic behavior or mental retardation (Herman et al., 2007). Some patients may have a primary immunodeficiency disorder with recurrent infections associated with variably abnormal T- and B-cell function (Tsujita et al., 2016).|OMIM|N|
C1854417|The postnatal development of an abnormally large skull (macrocephaly).|HPO|N|
C1854418|A narrowing of the biparietal diameter (i.e., of the transverse distance between the protuberances of the two parietal bones of the skull).|HPO|N|
C1854442|The TP63-related disorders comprise six overlapping phenotypes: Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome (which includes Rapp-Hodgkin syndrome). Acro-dermo-ungual-lacrimal-tooth (ADULT) syndrome. Ectrodactyly, ectodermal dysplasia, cleft lip/palate syndrome 3 (EEC3). Limb-mammary syndrome. Split-hand/foot malformation type 4 (SHFM4). Isolated cleft lip/cleft palate (orofacial cleft 8). Individuals typically have varying combinations of ectodermal dysplasia (hypohidrosis, nail dysplasia, sparse hair, tooth abnormalities), cleft lip/palate, split-hand/foot malformation/syndactyly, lacrimal duct obstruction, hypopigmentation, hypoplastic breasts and/or nipples, and hypospadias. Findings associated with a single phenotype include ankyloblepharon filiforme adnatum (tissue strands that completely or partially fuse the upper and lower eyelids), skin erosions especially on the scalp associated with areas of scarring, and alopecia, trismus, and excessive freckling.|GeneReviews|N|
C1854449|HMSNR is an autosomal recessive progressive complex peripheral neuropathy characterized by onset in the first decade of distal lower limb weakness and muscle atrophy resulting in walking difficulties. Distal impairment of the upper limbs usually occurs later, as does proximal lower limb weakness. There is distal sensory impairment, with pes cavus and areflexia. Laboratory studies suggest that it is a myelinopathy resulting in reduced nerve conduction velocities in the demyelinating range as well as a length-dependent axonopathy (summary by Sevilla et al., 2013).
For a discussion of genetic heterogeneity of autosomal recessive hereditary motor and sensory neuropathy, also known as Charcot-Marie-Tooth disease, see CMT4A (214400).|OMIM|N|
C1854454|The presence of axonal regeneration following a previous axonal lesion.|HPO|N|
C1854465|Tuberous sclerosis complex (TSC) involves abnormalities of the skin (hypomelanotic macules, confetti skin lesions, facial angiofibromas, shagreen patches, fibrous cephalic plaques, ungual fibromas); brain (subependymal nodules, cortical tubers, and subependymal giant cell astrocytomas [SEGAs], seizures, intellectual disability / developmental delay, psychiatric illness); kidney (angiomyolipomas, cysts, renal cell carcinomas); heart (rhabdomyomas, arrhythmias); and lungs (lymphangioleiomyomatosis [LAM], multifocal micronodular pneumonocyte hyperplasia). Central nervous system tumors are the leading cause of morbidity and mortality; renal disease is the second leading cause of early death.|GeneReviews|N|
C1854466|Temtamy preaxial brachydactyly syndrome (TPBS) is an autosomal recessive disorder characterized by bilateral, symmetric preaxial brachydactyly and hyperphalangism of digits, facial dysmorphism, dental anomalies, sensorineural hearing loss, delayed motor and mental development, and growth retardation (summary by Li et al., 2010).|OMIM|N|
C1854467|A rare hereditary spastic paraplegia with characteristics of progressive spastic paraplegia with pyramidal signs in the lower limbs, decreased vibration sense, and increased reflexes in the upper limbs. Caused by heterozygous mutation in the HSPD1 on chromosome 2q33.|SNOMEDCT_US|N|
C1854469|Noonan syndrome (NS) is characterized by characteristic facies, short stature, congenital heart defect, and developmental delay of variable degree. Other findings can include broad or webbed neck, unusual chest shape with superior pectus carinatum and inferior pectus excavatum, cryptorchidism, varied coagulation defects, lymphatic dysplasias, and ocular abnormalities. Although birth length is usually normal, final adult height approaches the lower limit of normal. Congenital heart disease occurs in 50%-80% of individuals. Pulmonary valve stenosis, often with dysplasia, is the most common heart defect and is found in 20%-50% of individuals. Hypertrophic cardiomyopathy, found in 20%-30% of individuals, may be present at birth or develop in infancy or childhood. Other structural defects include atrial and ventricular septal defects, branch pulmonary artery stenosis, and tetralogy of Fallot. Up to one fourth of affected individuals have mild intellectual disability, and language impairments in general are more common in NS than in the general population.|GeneReviews|N|
C1854470|Severely hypoplastic and triangular-shaped tibiae and absence of the fibulae.Two sporadic cases have been described. Moderate mesomelia of the upper limbs, proximal widening of the ulnas, pelvic anomalies and marked bilateral glenoid hypoplasia also reported.|SNOMEDCT_US|N|
C1854488|Spinocerebellar ataxia type 13 (SCA13) is a phenotypic spectrum that includes both non-progressive infantile-onset ataxia and progressive childhood-onset and adult-onset cerebellar ataxia. Three phenotypes are seen: Cerebellar hypoplasia with non-progressive infantile-onset limb, truncal, and gait ataxia with mild-to-moderate intellectual disability and occasionally seizures and/or psychiatric manifestations. Cognition and motor skills improve over time. Childhood-onset slowly progressive cerebellar atrophy with slowly progressive cerebellar ataxia and dysarthria, delayed motor milestones, and mild-to-moderate intellectual disability. Adult-onset progressive cerebellar atrophy with progressive ataxia and spasticity.|GeneReviews|N|
C1854489|A type of dysmetria involving the limbs.|HPO|N|
C1854495|Recurrent infection of the gastrointestinal tract.|HPO|N|
C1854510|Structural abnormality affecting one or more of the cranial nerves, which emerge directly from the brain stem.|HPO|N|
C1854520|An autosomal dominant disorder characterized by the triad of thrombocytopenia, giant platelets, and characteristic inclusions in peripheral blood leukocytes, without other organ dysfunction; it is associated with mutation of the MYH9 gene.|NCI|N|
C1854540|Carney complex (CNC) is characterized by skin pigmentary abnormalities, myxomas, endocrine tumors or overactivity, and schwannomas. Pale brown to black lentigines are the most common presenting feature of CNC and typically increase in number at puberty. Cardiac myxomas occur at a young age, may occur in any or all cardiac chambers, and can manifest as intracardiac obstruction of blood flow, embolic phenomenon, and/or heart failure. Other sites for myxomas include the skin, breast, oropharynx, and female genital tract. Primary pigmented nodular adrenocortical disease (PPNAD), which causes Cushing syndrome, is the most frequently observed endocrine tumor in CNC, occurring in approximately 25% of affected individuals. Large-cell calcifying Sertoli cell tumors (LCCSCTs) are observed in one third of affected males within the first decade and in most adult males. Up to 75% of individuals with CNC have multiple thyroid nodules, most of which are nonfunctioning thyroid follicular adenomas. Clinically evident acromegaly from a growth hormone (GH)-producing adenoma is evident in approximately 10% of adults. Psammomatous melanotic schwannoma (PMS), a rare tumor of the nerve sheath, occurs in an estimated 10% of affected individuals. The median age of diagnosis is 20 years.|GeneReviews|N|
C1854568|A rare complex hereditary spastic paraplegia with characteristics of adulthood onset of slowly progressive spastic paraplegia of lower limbs presenting with spastic gait, hyperreflexia and mild lower limb hypertonicity associated with mild intellectual disability, visual agnosia, short and long-term memory deficiency and mild distal motor neuropathy. Bilateral pes cavus and extensor plantar responses are also associated.|SNOMEDCT_US|N|
C1854573|An inflammatory bowel disease that has material basis in variation in the chromosome region 1p36.|MONDO|N|
C1854577|People with SLE have episodes in which the condition gets worse (exacerbations) and other times when it gets better (remissions). Overall, SLE gradually gets worse over time, and damage to the major organs of the body can be life-threatening.\n\nAbout a third of people with SLE develop kidney disease (nephritis). Heart problems may also occur in SLE, including inflammation of the sac-like membrane around the heart (pericarditis) and abnormalities of the heart valves, which control blood flow in the heart. Heart disease caused by fatty buildup in the blood vessels (atherosclerosis), which is very common in the general population, is even more common in people with SLE. The inflammation characteristic of SLE can also damage the nervous system, and may result in abnormal sensation and weakness in the limbs (peripheral neuropathy); seizures; stroke; and difficulty processing, learning, and remembering information (cognitive impairment). Anxiety and depression are also common in SLE.\n\nSLE may first appear as extreme tiredness (fatigue), a vague feeling of discomfort or illness (malaise), fever, loss of appetite, and weight loss. Most affected individuals also have joint pain, typically affecting the same joints on both sides of the body, and muscle pain and weakness. Skin problems are common in SLE. A characteristic feature is a flat red rash across the cheeks and bridge of the nose, called a "butterfly rash" because of its shape. The rash, which generally does not hurt or itch, often appears or becomes more pronounced when exposed to sunlight. Other skin problems that may occur in SLE include calcium deposits under the skin (calcinosis), damaged blood vessels (vasculitis) in the skin, and tiny red spots called petechiae. Petechiae are caused by a shortage of cells involved in clotting (platelets), which leads to bleeding under the skin. Affected individuals may also have hair loss (alopecia) and open sores (ulcerations) in the moist lining (mucosae) of the mouth, nose, or, less commonly, the genitals.\n\nSystemic lupus erythematosus (SLE) is a chronic disease that causes inflammation in connective tissues, such as cartilage and the lining of blood vessels, which provide strength and flexibility to structures throughout the body. The signs and symptoms of SLE vary among affected individuals, and can involve many organs and systems, including the skin, joints, kidneys, lungs, central nervous system, and blood-forming (hematopoietic) system. SLE is one of a large group of conditions called autoimmune disorders that occur when the immune system attacks the body's own tissues and organs.|MedlinePlus Genetics|N|
C1854594|Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the SIX1 gene.|MONDO|N|
C1854614|Osteolysis involving metatarsal bones.|HPO|N|
C1854630|Wiedemann-Steiner syndrome (WSS) is characterized by developmental delay, intellectual disability, and characteristic facial features, with or without additional congenital anomalies. The facial features include thick eyebrows with lateral flare, vertically narrow and downslanted palpebral fissures, widely spaced eyes, long eyelashes, wide nasal bridge, broad nasal tip, thin vermilion of the upper lip, and thick scalp hair. About 60% of affected individuals have hypertrichosis cubiti ("hairy elbows"), which was once thought to be pathognomic for the syndrome, with a majority having hypertrichosis of other body parts. Other clinical features include feeding difficulties, prenatal and postnatal growth restriction, epilepsy, ophthalmologic anomalies, congenital heart defects, hand anomalies (such as brachydactyly and clinodactyly), hypotonia, vertebral anomalies (especially fusion anomalies of the cervical spine), renal and uterine anomalies, immune dysfunction, brain malformations, and dental anomalies.|GeneReviews|N|
C1854631|Hypertension due to gain-of-function mutations in the mineralocorticoid receptor is a rare genetic hypertension characterized by a familial severe hypertension with an onset before age 20 years, associated with suppressed plasma renin and low aldosterone levels in the presence of low or normal levels of the mineralocorticoid aldosterone, that is highly resistant to antihypertensive medication. During pregnancy, there is a marked exacerbation of hypertension, accompanied by low serum potassium levels and undetectable aldosterone levels, but without signs of preeclampsia, requiring early delivery.|ORDO|N|
C1854657|Fasciculations affecting the musculature of the arms and legs.|HPO|N|
C1854663|A rare congenital myopathy syndrome characterized by nonprogressive myopathy (manifesting with mild facial and generalized weakness, bilateral ptosis, and severe lumbar lordosis), severe intellectual disability, short stature, and sexual infantilism (due to hypogonadotropic hypogonadism). The presence of a small pituitary fossa was also noted. There have been no further descriptions in the literature since 1985.|SNOMEDCT_US|N|
C1854664|Autosomal recessive lethal congenital contracture syndrome (LCCS) is the most severe, neonatally lethal, form of arthrogryposis (see 108120), a disorder characterized by congenital nonprogressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth (summary by Markus et al., 2012).
Genetic Heterogeneity of Lethal Congenital Contracture Syndrome
See also lethal congenital contracture syndrome-2 (LCCS2; 607598), caused by mutation in the ERBB3 gene (190151); LCCS3 (611369), caused by mutation in the PIP5K1C gene (606102); LCCS4 (614915), caused by mutation in the MYBPC1 gene (160794); LCCS5 (615368), caused by mutation in the DNM2 gene (602378); LCCS6 (616248), caused by mutation in the ZBTB42 gene (613915); LCCS7 (616286), caused by mutation in the CNTNAP1 gene (602346); LCCS8 (616287), caused by mutation in the ADCY6 gene (600294); LCCS9 (616503), caused by mutation in the ADGRG6 gene (612243); LCCS10 (617022), caused by mutation in the NEK9 gene (609798); and LCCS11 (617194), caused by mutation in the GLDN gene (608603).|OMIM|N|
C1854678|In people with multiple pterygium syndrome, Escobar type, the webbing typically affects the skin of the neck, fingers, forearms, inner thighs, and backs of the knee. People with this type may also have arthrogryposis. A side-to-side curvature of the spine (scoliosis) is sometimes seen. Affected individuals may also have respiratory distress at birth due to underdeveloped lungs (lung hypoplasia). People with multiple pterygium syndrome, Escobar type usually have distinctive facial features including droopy eyelids (ptosis), outside corners of the eyes that point downward (downslanting palpebral fissures), skin folds covering the inner corner of the eyes (epicanthal folds), a small jaw, and low-set ears. Males with this condition can have undescended testes (cryptorchidism). This condition does not worsen after birth, and affected individuals typically do not have muscle weakness later in life.\n\nLethal multiple pterygium syndrome has many of the same signs and symptoms as the Escobar type. In addition, affected fetuses may develop a buildup of excess fluid in the body (hydrops fetalis) or a fluid-filled sac typically found on the back of the neck (cystic hygroma). Individuals with this type have severe arthrogryposis. Lethal multiple pterygium syndrome is associated with abnormalities such as underdevelopment (hypoplasia) of the heart, lung, or brain; twisting of the intestines (intestinal malrotation); kidney abnormalities; an opening in the roof of the mouth (a cleft palate); and an unusually small head size (microcephaly). Affected individuals may also develop a hole in the muscle that separates the abdomen from the chest cavity (the diaphragm), a condition called a congenital diaphragmatic hernia. Lethal multiple pterygium syndrome is typically fatal in the second or third trimester of pregnancy.\n\nThe two forms of multiple pterygium syndrome are differentiated by the severity of their symptoms. Multiple pterygium syndrome, Escobar type (sometimes referred to as Escobar syndrome) is the milder of the two types. Lethal multiple pterygium syndrome is fatal before birth or very soon after birth.\n\nMultiple pterygium syndrome is a condition that is evident before birth with webbing of the skin (pterygium) at the joints and a lack of muscle movement (akinesia) before birth. Akinesia frequently results in muscle weakness and joint deformities called contractures that restrict the movement of joints (arthrogryposis). As a result, multiple pterygium syndrome can lead to further problems with movement such as arms and legs that cannot fully extend.|MedlinePlus Genetics|N|
C1854689|Decreased superior-inferior length of the nasal bridge, which is the saddle-shaped area that includes the nasal root and the lateral aspects of the nose.|HPO|N|
C1854699|Diffuse unlocalised atrophy affecting the cerebellum.|HPO|N|
C1854704|A metabolic acidosis due to accumulation of ketone bodies generally observed in the setting of poor nutritional intake.|HPO|N|
C1854718|A deformity of the sella turcica whereby the sella extends further anterior than normal such that the anterior clinoid process appears to overhang it, giving the appearance of the letter J on imaging of the skull.|HPO|N|
C1854749|Some or all of the metacarpal bones (i.e., metacarpal II to V) have a pointed proximal appearance.|HPO|N|
C1854774|An increased concentration of dermatan sulfate in the urine.|HPO|N|
C1854780|The presence of wide, concave anterior rib ends.|HPO|N|
C1854783|A gray discoloration of the dental enamel.|HPO|N|
C1854787|All of the metacarpal bones of the hand have a pointed proximal appearance.|HPO|N|
C1854827|An increased concentration of heparan sulfates in the urine.|HPO|N|
C1854834|An abnormal increase of density of the bones making up the calvaria.|HPO|N|
C1854882|Complete lack of development of speech and language abilities.|HPO|N|
C1854885|Defective structure and function of myelin sheaths of the white matter of the brain.|HPO|N|
C1854896|Mucolipidosis III gamma (ML III?) is a slowly progressive inborn error of metabolism mainly affecting skeletal, joint, and connective tissues. Clinical onset is in early childhood; the progressive course results in severe functional impairment and significant morbidity from chronic pain. Cardiorespiratory complications (restrictive lung disease from thoracic involvement, and thickening and insufficiency of the mitral and aortic valves) are rarely clinically significant. A few (probably <10%) affected individuals display mild cognitive impairment.|GeneReviews|N|
C1854912|One or more abnormally short long bone.|HPO|N|
C1854928|A thrusting or bulging out of the abdomen.|HPO|N|
C1854940|A reduction of the distance between the lower thoracic vertebral pedicles.|HPO|N|
C1854952|The presence of short and wide phalanges which taper distally ("bullet shaped").|HPO|N|
C1854961|Syndrome with characteristics of distal, slowly progressive muscular weakness, childhood-onset amyotrophy, autonomic dysfunction characterised by profuse sweating, distal cyanosis related to cold weather, orthostatic hypotension, and oesophageal achalasia. It has been described in two sisters. Inheritance appears to be autosomal recessive.|SNOMEDCT_US|N|
C1854978|Monosomy 7 myelodysplasia and leukemia syndrome-1 (M7MLS1) is an autosomal dominant hematologic disorder with highly variable manifestations. Most patients present in early childhood with pancytopenia and dyspoietic or dysplastic changes in the bone marrow. These abnormalities are almost always associated with monosomy 7 in the bone marrow. In severely affected individuals, the phenotype progresses to frank myelodysplastic syndrome (MDS) or acute myelogenous leukemia (AML). Less severely affected individuals may have transient thrombocytopenia or anemia, or have normal peripheral blood counts with transient bone marrow abnormalities or transient monosomy 7. Germline mutations in the SAMD9L gene, located on chromosome 7q, have a gain-of-function suppressive effect on the cell cycle, resulting in decreased cellular proliferation. It is hypothesized that this germline defect leads to selective pressure favoring somatic loss of the chromosome 7 harboring the mutant allele (adaptation by aneuploidy) (summary by Wong et al., 2018).
Monosomy 7 or partial deletion of the long arm of chromosome 7 (7q-) is a frequent cytogenetic finding in the bone marrow of patients with myelodysplasia and acute myelogenous leukemia. Furthermore, monosomy 7 or 7q- is the most frequent abnormality of karyotype in cases of AML that occur after cytotoxic cancer therapy or occupational exposure to mutagens. The age distribution of de novo cases shows peaks in the first and fifth decades. Monosomy 7 is found in about 5% of de novo and 40% of secondary cases of AML. These findings suggest that loss of certain genes at this region is an important event in the development of myelodysplasia (summary by Shannon et al., 1989).
Genetic Heterogeneity of Monosomy 7 Myelodysplastic and Leukemia Syndrome
See also M7MLS2 (619041), caused by germline mutation in the SAMD9 gene (610457) on chromosome 7q21.|OMIM|N|
C1854988|Molybdenum cofactor deficiency (MoCD) represents a spectrum, with some individuals experiencing significant signs and symptoms in the neonatal period and early infancy (termed early-onset or severe MoCD) and others developing signs and symptoms in childhood or adulthood (termed late-onset or mild MoCD). Individuals with early-onset MoCD typically present in the first days of life with severe encephalopathy, including refractory seizures, opisthotonos, axial and appendicular hypotonia, feeding difficulties, and apnea. Head imaging may demonstrate loss of gray and white matter differentiation, gyral swelling, sulci injury (typically assessed by evaluating the depth of focal lesional injury within the sulci), diffusely elevated T2-weighted signal, and panlobar diffusion restriction throughout the forebrain and midbrain with relative sparring of the brain stem. Prognosis for early-onset MoCD is poor, with about 75% succumbing in infancy to secondary complications of their neurologic disability (i.e., pneumonia). Late-onset MoCD is typically characterized by milder symptoms, such as acute neurologic decompensation in the setting of infection. Episodes vary in nature but commonly consist of altered mental status, dystonia, choreoathetosis, ataxia, nystagmus, and fluctuating hypotonia and hypertonia. These features may improve after resolution of the inciting infection or progress in a gradual or stochastic manner over the lifetime. Brain imaging may be normal or may demonstrate T2-weighted hyperintense or cystic lesions in the globus pallidus, thinning of the corpus callosum, and cerebellar atrophy.|GeneReviews|N|
C1854989|Molybdenum cofactor deficiency (MoCD) represents a spectrum, with some individuals experiencing significant signs and symptoms in the neonatal period and early infancy (termed early-onset or severe MoCD) and others developing signs and symptoms in childhood or adulthood (termed late-onset or mild MoCD). Individuals with early-onset MoCD typically present in the first days of life with severe encephalopathy, including refractory seizures, opisthotonos, axial and appendicular hypotonia, feeding difficulties, and apnea. Head imaging may demonstrate loss of gray and white matter differentiation, gyral swelling, sulci injury (typically assessed by evaluating the depth of focal lesional injury within the sulci), diffusely elevated T2-weighted signal, and panlobar diffusion restriction throughout the forebrain and midbrain with relative sparring of the brain stem. Prognosis for early-onset MoCD is poor, with about 75% succumbing in infancy to secondary complications of their neurologic disability (i.e., pneumonia). Late-onset MoCD is typically characterized by milder symptoms, such as acute neurologic decompensation in the setting of infection. Episodes vary in nature but commonly consist of altered mental status, dystonia, choreoathetosis, ataxia, nystagmus, and fluctuating hypotonia and hypertonia. These features may improve after resolution of the inciting infection or progress in a gradual or stochastic manner over the lifetime. Brain imaging may be normal or may demonstrate T2-weighted hyperintense or cystic lesions in the globus pallidus, thinning of the corpus callosum, and cerebellar atrophy.|GeneReviews|N|
C1854990|Molybdenum cofactor deficiency (MoCD) represents a spectrum, with some individuals experiencing significant signs and symptoms in the neonatal period and early infancy (termed early-onset or severe MoCD) and others developing signs and symptoms in childhood or adulthood (termed late-onset or mild MoCD). Individuals with early-onset MoCD typically present in the first days of life with severe encephalopathy, including refractory seizures, opisthotonos, axial and appendicular hypotonia, feeding difficulties, and apnea. Head imaging may demonstrate loss of gray and white matter differentiation, gyral swelling, sulci injury (typically assessed by evaluating the depth of focal lesional injury within the sulci), diffusely elevated T2-weighted signal, and panlobar diffusion restriction throughout the forebrain and midbrain with relative sparring of the brain stem. Prognosis for early-onset MoCD is poor, with about 75% succumbing in infancy to secondary complications of their neurologic disability (i.e., pneumonia). Late-onset MoCD is typically characterized by milder symptoms, such as acute neurologic decompensation in the setting of infection. Episodes vary in nature but commonly consist of altered mental status, dystonia, choreoathetosis, ataxia, nystagmus, and fluctuating hypotonia and hypertonia. These features may improve after resolution of the inciting infection or progress in a gradual or stochastic manner over the lifetime. Brain imaging may be normal or may demonstrate T2-weighted hyperintense or cystic lesions in the globus pallidus, thinning of the corpus callosum, and cerebellar atrophy.|GeneReviews|N|
C1855000|Agenesis of one or more central incisors, i.e., of lower secondary incisor, lower primary incisor, upper secondary incisor, or of upper central primary incisor.|HPO|N|
C1855008|An autosomal recessive condition characterized by decreased activity of the mitochondrial respiratory chain enzyme complex succinate dehydrogenase (SDH; mitochondrial complex II), which can be caused by loss of function mutation(s) in the any of the genes that encode subunits of SDH. The clinical presentation of this deficiency shows wide variation that ranges from isolated muscle weakness to multisystem symptoms involving the brain, heart and musculoskeletal system with complications such as encephalopathy. Additionally, this condition is associated with an increased risk for cancer because of increased levels of succinate.|NCI|N|
C1855010|Leukoencephalopathy that gets more severe with time.|HPO|N|
C1855033|A rare metabolic myopathy presenting during childhood, and characterized clinically by growth failure, severe muscle weakness, and moderate sensorineural deafness and biochemically by metabolic acidosis, elevated serum pyruvate concentration, hyperalaninemia and hyperalaninuria. There have been no further descriptions in the literature since 1973.|ORDO|N|
C1855052|Microphthalmia designates a heterogeneous group of ocular malformations with a more or less evident reduction in the size of the eyeball. Additional features include high hypermetropia and a short axial length. The size of the anterior chamber and the cornea may also be reduced, whereas the lens is normal or thicker than usual for age (summary by Fuchs et al., 2005).
Genetic Heterogeneity of Isolated Microphthalmia
MCOP1 has been mapped to chromosome 14q32. MCOP2 (610093) is caused by mutation in the CHX10 gene (142993) on chromosome 14q24. MCOP4 (613094) is caused by mutation in the GDF6 gene (601147) on chromosome 8q22. MCOP5 (611040) is caused by mutation in the MFRP gene (606227) on chromosome 11q23. MCOP6 (613517) is caused by mutation in the PRSS56 gene (613858) on chromosome 2q37. MCOP7 (613704) is caused by mutation in the GDF3 gene (606522) on chromosome 12p13. MCOP8 (615113) is caused by mutation in the ALDH1A3 gene (600463) on chromosome 15q26.
A disorder formerly designated MCOP3 has been reclassified; see 611038.|OMIM|N|
C1855067|An abnormal decrease from the normal count of B cells.|HPO|N|
C1855073|Deaths that occur before LIFE EXPECTANCY is reached within a given population.|MSH|N|
C1855078|Say-Barber-Miller syndrome is characterised by the association of unusual facial features, microcephaly, developmental delay, and severe postnatal growth retardation.|ORDO|N|
C1855079|Microcephaly-micromelia syndrome (MIMIS) is a severe autosomal recessive disorder that usually results in death in utero or in the perinatal period. Affected individuals have severe growth retardation with microcephaly and variable malformations of the limbs, particularly the upper limbs. Defects include radial ray anomalies, malformed digits, and clubfeet (summary by Evrony et al., 2017).|OMIM|N|
C1855080|Syndrome with characteristics of severe intellectual deficit, microcephaly and dilated cardiomyopathy. Hand and foot anomalies have also been reported. The syndrome has been described in three individuals. Transmission is autosomal recessive.|SNOMEDCT_US|N|
C1855081|Primary microcephaly refers to the clinical finding of a head circumference more than than 3 standard deviations (SD) below the age- and sex-related mean, present at birth. Primary microcephaly is a static developmental anomaly, distinguished from secondary microcephaly, which refers to a progressive neurodegenerative condition. Microcephaly is a disorder of fetal brain growth; individuals with microcephaly have small brains and almost always have mental retardation, although rare individuals with mild microcephaly (-3 SD) and normal intelligence have been reported. Additional clinical features may include short stature or mild seizures. MCPH is associated with a simplification of the cerebral cortical gyral pattern and a slight reduction in the volume of the white matter, consistent with the small size of the brain, but the architecture of the brain in general is normal, with no evidence of a neuronal migration defect (review by Woods et al., 2005).
Most cases of primary microcephaly show an autosomal recessive mode of inheritance. Because MCPH directly affects neurogenesis, or neurogenic mitosis, rather than growth of the skull, some prefer the term 'micrencephaly' (Hofman, 1984).
MCPH1 in particular is associated with premature chromosome condensation in cell studies (Darvish et al., 2010).
Genetic Heterogeneity of Primary Microcephaly
Primary microcephaly is a genetically heterogeneous disorder. See MCPH2 (604317), caused by mutation in the WDR62 gene (613583) on chromosome 19q13; MCPH3 (604804), caused by mutation in the CDK5RAP2 gene (608201) on 9q33; MCPH4 (604321), caused by mutation in the CASC5 gene (609173) on 15q14; MCPH5 (608716), caused by mutation in the ASPM gene (605481) on 1q31; MCPH6 (608393), caused by mutation in the CENPJ gene (609279) on 13q12; MCPH7 (612703), caused by mutation in the STIL gene (181590) on 1p33; MCPH8 (614673), caused by mutation in the CEP135 gene (611423) on 4q12; MCPH9 (614852), caused by mutation in the CEP152 gene (613529) on 15q21; MCPH10 (615095), caused by mutation in the ZNF335 gene (610827) on 20q13; MCPH11 (615414), caused by mutation in the PHC1 gene (602978) on 12p13; MCPH12 (616080), caused by mutation in the CDK6 gene (603368) on 7q21; MCPH13 (616051), caused by mutation in the CENPE gene (117143) on 4q24; MCPH14 (616402), caused by mutation in the SASS6 gene (609321) on 1p21; MCPH15 (616486), caused by mutation in the MFSD2A gene (614397) on 1p34; MCPH16 (616681), caused by mutation in the ANKLE2 gene (616062) on 12q24; MCPH17 (617090), caused by mutation in the CIT gene (605629) on 12q24; MCPH18 (617520), caused by mutation in the WDFY3 gene (617485) on 4q21; MCPH19 (617800), caused by mutation in the COPB2 gene (606990) on 3q23; MCPH20 (617914), caused by mutation in the KIF14 gene (611279) on 1q31; MCPH21 (617983), caused by mutation in the NCAPD2 gene (615638) on 12p13; MCPH22 (617984), caused by mutation in the NCAPD3 gene (609276) on 11q25; MCPH23 (617985), caused by mutation in the NCAPH gene (602332) on 2q11; MCPH24 (618179), caused by mutation in the NUP37 gene (609264) on 12q23; MCPH25 (618351), caused by mutation in the MAP11 gene (618350) on 7q22; MCPH26 (619179), caused by mutation in the LMNB1 gene (150340) on 5q23; MCPH27 (619180), caused by mutation in the LMNB2 gene (150341) on 19p13; MCPH28 (619453), caused by mutation in the RRP7A gene (619449) on 22q13; MCPH29 (620047), caused by mutation in the PDCD6IP gene (608074) on 3p22; and MCPH30 (620183), caused by mutation in the BUB1 gene (602452) on 2q14.|OMIM|N|
C1855089|Growth retardation with prenatal onset, cataracts, microcephaly, intellectual deficit, immune deficiency, delayed ossification and enamel hypoplasia. Transmission is autosomal recessive.|SNOMEDCT_US|N|
C1855091|Hypoplastic (short) proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.|HPO|N|
C1855100|For this GeneReview, the term "isolated methylmalonic acidemia" refers to a group of inborn errors of metabolism associated with elevated methylmalonic acid (MMA) concentration in the blood and urine that result from the failure to isomerize (convert) methylmalonyl-coenzyme A (CoA) into succinyl-CoA during propionyl-CoA metabolism in the mitochondrial matrix, without hyperhomocysteinemia or homocystinuria, hypomethioninemia, or variations in other metabolites, such as malonic acid. Isolated MMA is caused by complete or partial deficiency of the enzyme methylmalonyl-CoA mutase (mut0 enzymatic subtype or mut– enzymatic subtype, respectively), a defect in the transport or synthesis of its cofactor, 5-deoxy-adenosyl-cobalamin (cblA, cblB, or cblD-MMA), or deficiency of the enzyme methylmalonyl-CoA epimerase. Prior to the advent of newborn screening, common phenotypes included: Infantile/non-B12-responsive form (mut0 enzymatic subtype, cblB), the most common phenotype, associated with infantile-onset lethargy, tachypnea, hypothermia, vomiting, and dehydration on initiation of protein-containing feeds. Without appropriate treatment, the infantile/non-B12-responsive phenotype could rapidly progress to coma due to hyperammonemic encephalopathy. Partially deficient or B12-responsive phenotypes (mut– enzymatic subtype, cblA, cblB [rare], cblD-MMA), in which symptoms occur in the first few months or years of life and are characterized by feeding problems, failure to thrive, hypotonia, and developmental delay marked by episodes of metabolic decompensation. Methylmalonyl-CoA epimerase deficiency, in which findings range from complete absence of symptoms to severe metabolic acidosis. Affected individuals can also develop ataxia, dysarthria, hypotonia, mild spastic paraparesis, and seizures. In those individuals diagnosed by newborn screening and treated from an early age, there appears to be decreased early mortality, less severe symptoms at diagnosis, favorable short-term neurodevelopmental outcome, and lower incidence of movement disorders and irreversible cerebral damage. However, secondary complications may still occur and can include intellectual disability, tubulointerstitial nephritis with progressive impairment of renal function, "metabolic stroke" (bilateral lacunar infarction of the basal ganglia during acute metabolic decompensation), pancreatitis, growth failure, functional immune impairment, bone marrow failure, optic nerve atrophy, arrhythmias and/or cardiomyopathy (dilated or hypertrophic), liver steatosis/fibrosis/cancer, and renal cancer.|GeneReviews|N|
C1855102|For this GeneReview, the term "isolated methylmalonic acidemia" refers to a group of inborn errors of metabolism associated with elevated methylmalonic acid (MMA) concentration in the blood and urine that result from the failure to isomerize (convert) methylmalonyl-coenzyme A (CoA) into succinyl-CoA during propionyl-CoA metabolism in the mitochondrial matrix, without hyperhomocysteinemia or homocystinuria, hypomethioninemia, or variations in other metabolites, such as malonic acid. Isolated MMA is caused by complete or partial deficiency of the enzyme methylmalonyl-CoA mutase (mut0 enzymatic subtype or mut– enzymatic subtype, respectively), a defect in the transport or synthesis of its cofactor, 5-deoxy-adenosyl-cobalamin (cblA, cblB, or cblD-MMA), or deficiency of the enzyme methylmalonyl-CoA epimerase. Prior to the advent of newborn screening, common phenotypes included: Infantile/non-B12-responsive form (mut0 enzymatic subtype, cblB), the most common phenotype, associated with infantile-onset lethargy, tachypnea, hypothermia, vomiting, and dehydration on initiation of protein-containing feeds. Without appropriate treatment, the infantile/non-B12-responsive phenotype could rapidly progress to coma due to hyperammonemic encephalopathy. Partially deficient or B12-responsive phenotypes (mut– enzymatic subtype, cblA, cblB [rare], cblD-MMA), in which symptoms occur in the first few months or years of life and are characterized by feeding problems, failure to thrive, hypotonia, and developmental delay marked by episodes of metabolic decompensation. Methylmalonyl-CoA epimerase deficiency, in which findings range from complete absence of symptoms to severe metabolic acidosis. Affected individuals can also develop ataxia, dysarthria, hypotonia, mild spastic paraparesis, and seizures. In those individuals diagnosed by newborn screening and treated from an early age, there appears to be decreased early mortality, less severe symptoms at diagnosis, favorable short-term neurodevelopmental outcome, and lower incidence of movement disorders and irreversible cerebral damage. However, secondary complications may still occur and can include intellectual disability, tubulointerstitial nephritis with progressive impairment of renal function, "metabolic stroke" (bilateral lacunar infarction of the basal ganglia during acute metabolic decompensation), pancreatitis, growth failure, functional immune impairment, bone marrow failure, optic nerve atrophy, arrhythmias and/or cardiomyopathy (dilated or hypertrophic), liver steatosis/fibrosis/cancer, and renal cancer.|GeneReviews|N|
C1855106|Onset of signs or symptoms of disease within the first 28 days of life.|HPO|N|
C1855109|For this GeneReview, the term "isolated methylmalonic acidemia" refers to a group of inborn errors of metabolism associated with elevated methylmalonic acid (MMA) concentration in the blood and urine that result from the failure to isomerize (convert) methylmalonyl-coenzyme A (CoA) into succinyl-CoA during propionyl-CoA metabolism in the mitochondrial matrix, without hyperhomocysteinemia or homocystinuria, hypomethioninemia, or variations in other metabolites, such as malonic acid. Isolated MMA is caused by complete or partial deficiency of the enzyme methylmalonyl-CoA mutase (mut0 enzymatic subtype or mut– enzymatic subtype, respectively), a defect in the transport or synthesis of its cofactor, 5-deoxy-adenosyl-cobalamin (cblA, cblB, or cblD-MMA), or deficiency of the enzyme methylmalonyl-CoA epimerase. Prior to the advent of newborn screening, common phenotypes included: Infantile/non-B12-responsive form (mut0 enzymatic subtype, cblB), the most common phenotype, associated with infantile-onset lethargy, tachypnea, hypothermia, vomiting, and dehydration on initiation of protein-containing feeds. Without appropriate treatment, the infantile/non-B12-responsive phenotype could rapidly progress to coma due to hyperammonemic encephalopathy. Partially deficient or B12-responsive phenotypes (mut– enzymatic subtype, cblA, cblB [rare], cblD-MMA), in which symptoms occur in the first few months or years of life and are characterized by feeding problems, failure to thrive, hypotonia, and developmental delay marked by episodes of metabolic decompensation. Methylmalonyl-CoA epimerase deficiency, in which findings range from complete absence of symptoms to severe metabolic acidosis. Affected individuals can also develop ataxia, dysarthria, hypotonia, mild spastic paraparesis, and seizures. In those individuals diagnosed by newborn screening and treated from an early age, there appears to be decreased early mortality, less severe symptoms at diagnosis, favorable short-term neurodevelopmental outcome, and lower incidence of movement disorders and irreversible cerebral damage. However, secondary complications may still occur and can include intellectual disability, tubulointerstitial nephritis with progressive impairment of renal function, "metabolic stroke" (bilateral lacunar infarction of the basal ganglia during acute metabolic decompensation), pancreatitis, growth failure, functional immune impairment, bone marrow failure, optic nerve atrophy, arrhythmias and/or cardiomyopathy (dilated or hypertrophic), liver steatosis/fibrosis/cancer, and renal cancer.|GeneReviews|N|
C1855114|For this GeneReview, the term "isolated methylmalonic acidemia" refers to a group of inborn errors of metabolism associated with elevated methylmalonic acid (MMA) concentration in the blood and urine that result from the failure to isomerize (convert) methylmalonyl-coenzyme A (CoA) into succinyl-CoA during propionyl-CoA metabolism in the mitochondrial matrix, without hyperhomocysteinemia or homocystinuria, hypomethioninemia, or variations in other metabolites, such as malonic acid. Isolated MMA is caused by complete or partial deficiency of the enzyme methylmalonyl-CoA mutase (mut0 enzymatic subtype or mut– enzymatic subtype, respectively), a defect in the transport or synthesis of its cofactor, 5-deoxy-adenosyl-cobalamin (cblA, cblB, or cblD-MMA), or deficiency of the enzyme methylmalonyl-CoA epimerase. Prior to the advent of newborn screening, common phenotypes included: Infantile/non-B12-responsive form (mut0 enzymatic subtype, cblB), the most common phenotype, associated with infantile-onset lethargy, tachypnea, hypothermia, vomiting, and dehydration on initiation of protein-containing feeds. Without appropriate treatment, the infantile/non-B12-responsive phenotype could rapidly progress to coma due to hyperammonemic encephalopathy. Partially deficient or B12-responsive phenotypes (mut– enzymatic subtype, cblA, cblB [rare], cblD-MMA), in which symptoms occur in the first few months or years of life and are characterized by feeding problems, failure to thrive, hypotonia, and developmental delay marked by episodes of metabolic decompensation. Methylmalonyl-CoA epimerase deficiency, in which findings range from complete absence of symptoms to severe metabolic acidosis. Affected individuals can also develop ataxia, dysarthria, hypotonia, mild spastic paraparesis, and seizures. In those individuals diagnosed by newborn screening and treated from an early age, there appears to be decreased early mortality, less severe symptoms at diagnosis, favorable short-term neurodevelopmental outcome, and lower incidence of movement disorders and irreversible cerebral damage. However, secondary complications may still occur and can include intellectual disability, tubulointerstitial nephritis with progressive impairment of renal function, "metabolic stroke" (bilateral lacunar infarction of the basal ganglia during acute metabolic decompensation), pancreatitis, growth failure, functional immune impairment, bone marrow failure, optic nerve atrophy, arrhythmias and/or cardiomyopathy (dilated or hypertrophic), liver steatosis/fibrosis/cancer, and renal cancer.|GeneReviews|N|
C1855119|Increased concentration of methylmalonic acid in the urine.|HPO|N|
C1855126|The category of 3-methylglutaconic aciduria type IV (MGCA4) represents a heterogeneous unclassified group of patients who share mild or intermittent urinary excretion of 3-methylglutaconic acid. MGCA excretion is a nonspecific finding observed in many other disorders caused by defects in mitochondrial energy metabolism (Gunay-Aygun, 2005).
For a general phenotypic description and a discussion of genetic heterogeneity of 3-methylglutaconic aciduria, see MGCA1 (250950)|OMIM|N|
C1855128|Disorders of intracellular cobalamin metabolism have a variable phenotype and age of onset that are influenced by the severity and location within the pathway of the defect. The prototype and best understood phenotype is cblC; it is also the most common of these disorders. The age of initial presentation of cblC spans a wide range: In utero with fetal presentation of nonimmune hydrops, cardiomyopathy, and intrauterine growth restriction. Newborns, who can have microcephaly, poor feeding, and encephalopathy. Infants, who can have poor feeding and slow growth, neurologic abnormality, and, rarely, hemolytic uremic syndrome (HUS). Toddlers, who can have poor growth, progressive microcephaly, cytopenias (including megaloblastic anemia), global developmental delay, encephalopathy, and neurologic signs such as hypotonia and seizures. Adolescents and adults, who can have neuropsychiatric symptoms, progressive cognitive decline, thromboembolic complications, and/or subacute combined degeneration of the spinal cord.|GeneReviews|N|
C1855171|Metaphyseal cupping affecting the metacarpal bones.|HPO|N|
C1855175|Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome is characterised by metaphyseal dysplasia, short-limb dwarfism, mild intellectual deficit and conductive hearing loss, associated with repeated episodes of otitis media in childhood. It has been described in three brothers born to consanguineous Sicilian parents. Variable manifestations included hyperopia and strabismus. The mode of inheritance is autosomal recessive.|ORDO|N|
C1855177|Abnormally flat configuration of the glenoid fossa, also known as the glenoid cavity, which is the articular surface of the scapula that articulates with the head of the humerus.|HPO|N|
C1855179|A polar cataract that affects the anterior pole of the lens.|HPO|N|
C1855180|Irregularity of the iliac crest, which is the superior border of the wing of the ilium.|HPO|N|
C1855185|Increased side-to-side width of one or more phalanges of the fingers or toes.|HPO|N|
C1855188|Brachydactyly-short stature-retinitis pigmentosa syndrome is a rare, genetic, congenital limb malformation syndrome characterized by mild to severe short stature, brachydactyly, and retinal degeneration (usually retinitis pigmentosa), associated with variable intellectual disability, developmental delays, and craniofacial anomalies.|ORDO|N|
C1855191|Progressive bending or abnormal curvature of the leg.|HPO|N|
C1855204|An immunodeficiency characterized by defective cell-mediated immunity or humoral immunity.|HPO|N|
C1855205|Increased susceptibility to chicken pox, as manifested by recurrent episodes of chicken pox.|HPO|N|
C1855217|A rare multiple metaphyseal dysplasia disease with characteristics of disproportionate short stature, short limbs and digits, tracheobronchial malacia and progressive thoracolumbar scoliosis. Radiographic imaging shows progression from marked metaphyseal dysplasia of tubular bones in childhood to short and broad bones with mild dysplasia of the joints in adulthood. There have been no further descriptions in the literature since 1982.|SNOMEDCT_US|N|
C1855222|Developmental delay of ossification of the proximal epiphysis of the femur.|HPO|N|
C1855229|Sedaghatian-type spondylometaphyseal dysplasia (SMDS) is a rare lethal disorder characterized by severe metaphyseal chondrodysplasia with mild limb shortening, platyspondyly, delayed epiphyseal ossification, irregular iliac crests, and pulmonary hemorrhage. Affected infants present with severe hypotonia and cardiorespiratory problems; most die within days of birth due to respiratory failure. Cardiac abnormalities include conduction defects, complete heart block, and structural anomalies. Half of infants with SMDS are reported to have central nervous system malformations consistent with abnormal neuronal migration, including agenesis of the corpus callosum, pronounced frontotemporal pachygyria, simplified gyral pattern, partial lissencephaly, and severe cerebellar hypoplasia (summary by Smith et al., 2014).|OMIM|N|
C1855230|A congenital absence of the convolutions of the cerebral cortex and a poorly formed sylvian fissure that affects a particular part of the cortex.|HPO|N|
C1855233|An enlargement of the posterior fontanelle relative to age-dependent norms.|HPO|N|
C1855239|A cone-shaped appearance of the epiphyses of the metacarpal bones, producing a 'ball-in-a-socket' appearance. This epiphyses are located at the distal ends of the metacarpal bones.|HPO|N|
C1855243|Metaphyseal acroscyphodysplasia is an extremely rare form of metaphyseal dysplasia characterized by the distinctive radiological sign of cone-shaped upper tibial and lower femoral epiphyses embedded in large cup-shaped metaphyses, associated with short stature and micromelia. Upper limb involvement includes brachydactyly and phalangeal and metacarpal cone-shaped epiphyses. The association of metaphyseal acroscyphodysplasia with psychomotor delay and alopecia has also been reported in some cases.|ORDO|N|
C1855255|Arylsulfatase A deficiency (also known as metachromatic leukodystrophy or MLD) is characterized by three clinical subtypes: late-infantile MLD, juvenile MLD, and adult MLD. Age of onset within a family is usually similar. The disease course may be from several years in the late-infantile-onset form to decades in the juvenile- and adult-onset forms. Late-infantile MLD. Onset is before age 30 months. Typical presenting findings include weakness, hypotonia, clumsiness, frequent falls, toe walking, and dysarthria. As the disease progresses, language, cognitive, and gross and fine motor skills regress. Later signs include spasticity, pain, seizures, and compromised vision and hearing. In the final stages, children have tonic spasms, decerebrate posturing, and general unawareness of their surroundings. Juvenile MLD. Onset is between age 30 months and 16 years. Initial manifestations include decline in school performance and emergence of behavioral problems, followed by gait disturbances. Progression is similar to but slower than in the late-infantile form. Adult MLD. Onset occurs after age 16 years, sometimes not until the fourth or fifth decade. Initial signs can include problems in school or job performance, personality changes, emotional lability, or psychosis; in others, neurologic symptoms (weakness and loss of coordination progressing to spasticity and incontinence) or seizures initially predominate. Peripheral neuropathy is common. Disease course is variable – with periods of stability interspersed with periods of decline – and may extend over two to three decades. The final stage is similar to earlier-onset forms.|GeneReviews|N|
C1855273|A rare syndrome characterised by mesomelic shortening and bowing of the limbs, camptodactyly, skin dimpling and cleft palate with retrognathia and mandibular hypoplasia. It has been described in a brother and sister born to consanguineous parents. Transmission is autosomal recessive.|ORDO|N|
C1855274|A type of disproportionate short stature characterized by disproportionate shortening of the medial parts of the extremities (forearm or lower leg).|HPO|N|
C1855284|Atresia in the intrahepatic bile duct.|HPO|N|
C1855285|Angle formed by the plane of the ear and the mastoid bone greater than the 97th centile for age (objective); or, outer edge of the helix more than 2 cm from the mastoid at the point of maximum distance (objective).|HPO|N|
C1855299|Forearm shortening because of underdevelopment of one or more bones of the forearm.|HPO|N|
C1855301|Absence of the proximal radial epiphysis.|HPO|N|
C1855303|This syndrome has characteristics of moderate intellectual deficit, craniofacial dysmorphism, hypergonadotropic hypogonadism, eunuchoid habitus, type 1 diabetes mellitus, and epilepsy. It has been described in four patients (three brothers and their sister). This syndrome is probably transmitted as an autosomal recessive trait.|SNOMEDCT_US|N|
C1855304|Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the PRSS12 gene.|MONDO|N|
C1855305|The primary characteristics of the Frank-ter Haar syndrome (FTHS) are brachycephaly, wide fontanels, prominent forehead, hypertelorism, prominent eyes, macrocornea with or without glaucoma, full cheeks, small chin, bowing of the long bones, and flexion deformity of the fingers. Protruding, simple ears and prominent coccyx are also regarded as important diagnostic signs (summary by Maas et al., 2004).
Borrone syndrome was described as a severe progressive multisystem disorder with features overlapping those of FTHS, including thick skin, acne conglobata, osteolysis, gingival hypertrophy, brachydactyly, camptodactyly, and mitral valve prolapse. Although it was initially thought to be a distinct phenotype, mutations in the FTHS-associated gene SH3PXD2B have been identified in patients diagnosed with Borrone syndrome. The earlier differential description was attributed to phenotypic variability as well as to differences in the ages at which patients were examined (Wilson et al., 2014).|OMIM|N|
C1855311|Dilatation of the bladder postnatally.|HPO|N|
C1855330|Underdevelopment of the cerebrum.|HPO|N|
C1855333|Underdevelopment of part or all of the external reproductive organs.|HPO|N|
C1855335|Underdevelopment of the urinary bladder.|HPO|N|
C1855340|A bending or abnormal curvature of a long bone.|HPO|N|
C1855346|Mast syndrome (MASTS) is an autosomal recessive complicated form of hereditary spastic paraplegia in which progressive spastic paraparesis is associated in more advanced cases with cognitive decline, dementia, and other neurologic abnormalities. Symptom onset usually occurs in adulthood, and the disorder is progressive with variable severity. Brain imaging shows thinning of the corpus callosum. The disorder occurs with high frequency in the Old Order Amish (summary by Simpson et al., 2003).
For a discussion of genetic heterogeneity of autosomal recessive spastic paraplegia, see SPG5A (270800).|OMIM|N|
C1855347|A rare multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, psychomotor retardation, flat face and some features resembling Marfan syndrome, such as tall stature, dolichostenomelia, arm span larger than height, arachnodactyly of hands and feet, little subcutaneous fat, and muscle hypotonia. There have been no further descriptions in the literature since 1984.|ORDO|N|
C1855348|A rare intellectual disability syndrome characterized by intellectual deficit, marfanoid habitus, microcephaly, and glomerulonephritis. There have been no further reports since 1992.|ORDO|N|
C1855350|Underdevelopment of the inferior portion of the vermis of cerebellum.|HPO|N|
C1855352|A pathologic fibrous band that impedes passage of intestinal contents through the duodenum.|NCI|N|
C1855371|The major clinical features of maple syrup urine disease (MSUD) are mental and physical retardation, feeding problems, and a maple syrup odor to the urine. The keto acids of the branched-chain amino acids (BCAA) are present in the urine, resulting from a block in oxidative decarboxylation. There are 4 clinical subtypes of MSUD2: the classic neonatal severe form, an intermediate form, an intermittent form, and a thiamine-responsive form (Chuang and Shih, 2001). The classic form is manifested within the first 2 weeks of life with poor feeding, lethargy, seizures, coma, and death if untreated. Intermediate MSUD is associated with elevated BCAAs and BCKA, with progressive mental retardation and developmental delay without a history of catastrophic illness. The diagnosis is usually delayed for many months. An intermittent form of MSUD may have normal levels of BCAAs, normal intelligence and development until a stress, e.g., infection, precipitates decompensation with ketoacidosis and neurologic symptoms, which are usually reversed with dietary treatment. Thiamine-responsive MSUD is similar to the intermediate phenotype but responds to pharmacologic doses of thiamine with normalization of BCAAs (Chuang et al., 1995).
For general phenotypic information and a discussion of genetic heterogeneity of MSUD, see MSUD1A (248600).|OMIM|N|
C1855391|The presence of an increased number of twists and turns of the conjunctival blood vessels.|HPO|N|
C1855396|A moderate form recognized before age ten years with presence of skeletal abnormalities, myopathy, and slow progression.|NCBI curation|N|
C1855418|Hyperconvexity of the thoracolumbar spine producing a rounded or humped appearance.|HPO|N|
C1855425|FREM1 autosomal recessive disorders include: Manitoba oculotrichoanal (MOTA) syndrome, bifid nose with or without anorectal and renal anomalies (BNAR syndrome), and isolated congenital anomalies of kidney and urinary tract (CAKUT). MOTA syndrome is characterized by an aberrant hairline (unilateral or bilateral wedge-shaped extension of the anterior hairline from the temple region to the ipsilateral eye) and anomalies of the eyes (widely spaced eyes, anophthalmia/microphthalmia and/or cryptophthalmos, colobomas of the upper eyelid, and corneopalpebral synechiae), nose (bifid or broad nasal tip), abdominal wall (omphalocele or umbilical hernia), and anus (stenosis and/or anterior displacement of the anal opening). The manifestations and degree of severity vary even among affected members of the same family. Growth and psychomotor development are normal. BNAR syndrome is characterized by a bifid or wide nasal tip, anorectal anomalies, and renal malformations (e.g., renal agenesis, renal dysplasia). Typically the eye manifestations of MOTA syndrome are absent. FREM1-CAKUT was identified in one individual with bilateral vesicoureteral reflux (VUR) and a second individual with VUR and renal hypodysplasia.|GeneReviews|N|
C1855433|Treacher Collins syndrome (TCS) is characterized by bilateral and symmetric downslanting palpebral fissures, malar hypoplasia, micrognathia, and external ear abnormalities. Hypoplasia of the zygomatic bones and mandible can cause significant feeding and respiratory difficulties. About 40%-50% of individuals have conductive hearing loss attributed most commonly to malformation of the ossicles and hypoplasia of the middle ear cavities. Inner ear structures tend to be normal. Other, less common abnormalities include cleft palate and unilateral or bilateral choanal stenosis or atresia. Typically intellect is normal.|GeneReviews|N|
C1855458|Erythema (Redness of the skin caused by hyperemia of the capillaries in the lower layers of the skin) localized to the region surrounding the mouth.|HPO|N|
C1855465|Stargardt macular degeneration is a genetic eye disorder that causes progressive vision loss. This disorder affects the retina, the specialized light-sensitive tissue that lines the back of the eye. Specifically, Stargardt macular degeneration affects a small area near the center of the retina called the macula. The macula is responsible for the type of vision needed for detailed tasks such as reading, driving, and recognizing faces. In most people with Stargardt macular degeneration, a fatty yellow pigment called lipofuscin builds up in cells underlying the macula. Over time, the abnormal accumulation of this substance can damage cells that are critical for clear vision. People with Stargardt macular degeneration have problems with night vision that can make it difficult to navigate in low light. Some affected individuals also have impaired color vision. The signs and symptoms of Stargardt macular degeneration typically appear in late childhood to early adulthood and worsen over time.|MedlinePlus Genetics|N|
C1855466|Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement (FHHNCOI) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by excessive magnesium and calcium renal wasting, bilateral nephrocalcinosis, progressive renal failure and severe ocular abnormalities.|ORPHANET|N|
C1855467|Macrosomia-microphthalmia-cleft palate syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by early macrosomia, bilateral severe microphthalmia and a protuberant abdomen with hepatomegaly. Additional reported features include brachycephaly, large fontanelles, prominent forehead, upturned nose and median cleft palate. Cyanotic apneic spells and overwhelming infection lead to death within the first 6 months of life. There have been no further descriptions in the literature since 1989.|ORDO|N|
C1855477|A very rare ectodermal dysplasia syndrome, described in 2 adult brothers, characterized by the association of hypoparathyroidism, nephropathy, congenital lymphedema, mitral valve prolapse and brachytelephalangy. Additional features include mild facial dysmorphism, hypertrichosis and nail abnormalities.|SNOMEDCT_US|N|
C1855478|An abnormal increase in the carrying angle, which is the angle he long axis of the extended forearm as it lies lateral to the long axis of the arm.|HPO|N|
C1855480|Abnormal dilatation of the pulmonary lymphatic vessels. Lymphatic fluid in the lung is derived from normal leakage of fluid out of the blood capillaries in the lung. In pulmonary lymphangiectasia, the pulmonary lymphatics are not properly connected and become dilated with fluid.|HPO|N|
C1855488|Depression of profile in both temporal regions.|HPO|N|
C1855496|A syndrome caused by the effects of abnormality (typically a deletion or duplication) of 2 or more adjacent genes|HPO|N|
C1855498|A rare disorder caused by mutation in the LMF1 gene resulting in combined lipase deficiency with concomitant hypertriglyceridemia and associated disorders.|NCI|N|
C1855499|FATCO syndrome comprises fibular aplasia, tibial campomelia, and oligosyndactyly (Courtens et al., 2005).
See also ectrodactyly (split-hand/foot malformation) associated with fibular hypoplasia/aplasia (113310).|OMIM|N|
C1855501|Intellectual disability-spasticity-ectrodactyly syndrome is a rare intellectual disability syndrome characterized by severe intellectual disability, spastic paraplegia (with wasting of the lower limbs) and distal transverse defects of the limbs (e.g. ectrodactyly, syndactyly, clinodactyly of the hands and/or feet).|ORDO|N|
C1855502|Syndrome with characteristics of frequent infections associated with osteoporosis, a tendency for fractures and osseous anomalies. It has been described in two monozygotic twin brothers. Transmission is autosomal recessive.|SNOMEDCT_US|N|
C1855504|Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome is a rare ectodermal dysplasia syndrome characterized by congenital generalized melanoleukoderma, hypodontia and hypotrichosis associated with infantilism, intellectual disability and growth delay. There have been no further descriptions in the literature since 1961.|ORDO|N|
C1855515|Juvenile granulosa cell ovarian tumor (JGCOT) is a rare sex cord stromal tumor, occuring most frequently in premenarchal girls or young women. In contrast to adult granulosa cell tumor, JGCOT has a high mitotic index and more aggressive tumor growth. Microscopically it is seen as diffuse and regularly distributed neoplastic cells with a wide cytoplasm and pleomorphic hyperchromatic nucleus. Follicle formation, in various sizes and shapes, is important in JGCOT. Call-Exner bodies are infrequently seen in JGCOT in contrast to the adult type.|HPO|N|
C1855520|An increased concentration of glucose in the blood following a meal.|HPO|N|
C1855523|A very rare congenital limb malformation syndrome characterized by absence deformity of one leg, progressive scoliosis, short stature, and congenital cataract associated with dysplasia of the optic nerve. No intellectual deficit has been reported. There have been no further descriptions in the literature since 1968.|ORDO|N|
C1855535|A rare developmental defect with connective tissue involvement characterized by multiple joint dislocations, flattened facial appearance, abnormal palmar creases, laryngotracheomalacia, and pulmonary hypoplasia. Additional signs may include a bifid tongue, micrognathia, non-immune hydrops fetalis, and brain dysplasia. The disease is lethal shortly after birth due to respiratory insufficiency.|ORDO|N|
C1855538|A face that is short and narrow.|HPO|N|
C1855544|Abnormal increase in size of one or more metaphyses.|HPO|N|
C1855551|A very rare syndrome described in four siblings of one French family and with characteristics of branchial dysplasia (malar hypoplasia, macrostomia, preauricular tags and meatal atresia), club feet, inguinal hernia and cholestasis due to paucity of interlobular bile ducts and intellectual deficit.|SNOMEDCT_US|N|
C1855553|Pyruvate dehydrogenase deficiency is characterized by the buildup of a chemical called lactic acid in the body and a variety of neurological problems. Signs and symptoms of this condition usually first appear shortly after birth, and they can vary widely among affected individuals. The most common feature is a potentially life-threatening buildup of lactic acid (lactic acidosis), which can cause nausea, vomiting, severe breathing problems, and an abnormal heartbeat. People with pyruvate dehydrogenase deficiency usually have neurological problems as well. Most have delayed development of mental abilities and motor skills such as sitting and walking. Other neurological problems can include intellectual disability, seizures, weak muscle tone (hypotonia), poor coordination, and difficulty walking. Some affected individuals have abnormal brain structures, such as underdevelopment of the tissue connecting the left and right halves of the brain (corpus callosum), wasting away (atrophy) of the exterior part of the brain known as the cerebral cortex, or patches of damaged tissue (lesions) on some parts of the brain. Because of the severe health effects, many individuals with pyruvate dehydrogenase deficiency do not survive past childhood, although some may live into adolescence or adulthood.|MedlinePlus Genetics|N|
C1855565|Pyruvate dehydrogenase deficiency is characterized by the buildup of a chemical called lactic acid in the body and a variety of neurological problems. Signs and symptoms of this condition usually first appear shortly after birth, and they can vary widely among affected individuals. The most common feature is a potentially life-threatening buildup of lactic acid (lactic acidosis), which can cause nausea, vomiting, severe breathing problems, and an abnormal heartbeat. People with pyruvate dehydrogenase deficiency usually have neurological problems as well. Most have delayed development of mental abilities and motor skills such as sitting and walking. Other neurological problems can include intellectual disability, seizures, weak muscle tone (hypotonia), poor coordination, and difficulty walking. Some affected individuals have abnormal brain structures, such as underdevelopment of the tissue connecting the left and right halves of the brain (corpus callosum), wasting away (atrophy) of the exterior part of the brain known as the cerebral cortex, or patches of damaged tissue (lesions) on some parts of the brain. Because of the severe health effects, many individuals with pyruvate dehydrogenase deficiency do not survive past childhood, although some may live into adolescence or adulthood.|MedlinePlus Genetics|N|
C1855575|Present in 1% to 4% of the cases.|HPO|N|
C1855577|A rare metabolic myopathy with characteristics of muscle cramping and/or stiffness after exercise (especially during heat exposure), post-exertional rhabdomyolysis and myoglobinuria and elevation of serum creatine kinase. Caused by mutation in the SLC16A1 gene.|SNOMEDCT_US|N|
C1855578|Sudden and involuntary contractions of one or more muscles brought on by physical exertion.|HPO|N|
C1855579|A type of muscle stiffness that occurs following physical exertion.|HPO|N|
C1855580|An abnormally increased tendency towards muscle fatigue induced by physical exercise.|HPO|N|
C1855588|Genetic prion disease generally manifests with cognitive difficulties, ataxia, and myoclonus (abrupt jerking movements of muscle groups and/or entire limbs). The order of appearance and/or predominance of these features and other associated neurologic and psychiatric findings vary. The three major phenotypes of genetic prion disease are genetic Creutzfeldt-Jakob disease (gCJD), fatal familial insomnia (FFI), and Gerstmann-Sträussler-Scheinker (GSS) syndrome. Although these phenotypes display overlapping clinical and pathologic features, recognition of these phenotypes can be useful when providing affected individuals and their families with information about the expected clinical course. The age at onset typically ranges from 50 to 60 years. The disease course ranges from a few months in gCJD and FFI to a few (up to 4, and in rare cases up to 10) years in GSS syndrome.|GeneReviews|N|
C1855605|A rare, lethal, congenital, chondrodysplasia disorder characterized by dumbbell-shaped long bones with markedly shortened diaphyses and metaphyseal irregularities associated with a 'Swiss cheese' appearance of the cartilage matrix, as well as distinctive changes in the growth plate and resting cartilage, resulting in death in the neonatal period. There have been no further descriptions in the literature since 1983.|ORDO|N|
C1855607|Keutel syndrome (KTLS) is an autosomal recessive disorder characterized by multiple peripheral pulmonary stenoses, brachytelephalangy, inner ear deafness, and abnormal cartilage ossification or calcification (summary by Khosroshahi et al., 2014).|OMIM|N|
C1855608|Calcification of the costal cartilages, which are bars of hyaline cartilage found at the anterior ends of the ribs which serve to prolong the ribs forward and contribute to the elasticity of the walls of the thorax.|HPO|N|
C1855620|Fusion of the epiphysis and metaphysis of one or more phalanges prior to the normal age or stage of growth.|HPO|N|
C1855622|Ossification affecting the set of cartilages of larynx.|HPO|N|
C1855627|Haim-Munk syndrome is an autosomal recessive disorder characterized by palmoplantar keratoderma, severe periodonitis, arachnodactyly, acroosteolysis, atrophic changes of the nails, and a radiographic deformity of the fingers (summary by Hart et al., 2000).|OMIM|N|
C1855633|Abnormal thickening of the skin on the palms and soles that is present at birth.|HPO|N|
C1855644|Hereditary palmoplantar keratoderma, Gamborg-Nielsen type is characterised by the presence of diffuse palmoplantar keratoderma without associated symptoms. The syndrome has been described in multiple families from the northernmost county of Sweden (Norrbotten). The palmoplantar keratoderma found in the Gamborg-Nielsen type disease is milder than that found in Mal de Meleda but more severe than that found in Thost-Unna palmoplantar keratoderma (see these terms). Transmission is autosomal recessive.|ORDO|N|
C1855648|A rare, primary bone dysplasia characterized by prenatal and postnatal growth retardation, short stature, cortical thickening and medullary stenosis of the long bones, absent diploic space in the skull bones, hypocalcemia due to the hypoparathyroidism, small hands and feet, delayed mental and motor development, intellectual disability, dental anomalies, and dysmorphic features, including prominent forehead, small deep-set eyes, beaked nose, and micrognathia.|ORDO|N|
C1855652|A fetus that does not grow beyond the 10th percentile of conventionally accepted weight for gestational age.|NCI|N|
C1855657|An increase in bone density affecting the calvaria (roof of the skull).|HPO|N|
C1855663|Kaufman oculocerebrofacial syndrome (KOS) is characterized by developmental delay, severe intellectual disability, and distinctive craniofacial features. Most affected children have prenatal-onset microcephaly, hypotonia, and growth deficiency. Feeding issues, ocular abnormalities, hearing impairment, and respiratory tract abnormalities are common. Ocular abnormalities can include structural abnormalities (microcornea or microphthalmia, coloboma, optic nerve hypoplasia), refractive errors (myopia ± astigmatism, hyperopia), strabismus, and entropion. Both conductive and sensorineural hearing loss have been reported as well as mixed conductive-sensorineural hearing loss of variable severity. Breathing problems can lead to prolonged hospitalization after birth in more than half of individuals. Less common findings include ectodermal abnormalities, cardiac manifestations, urogenital abnormalities, seizures, and skeletal abnormalities.|GeneReviews|N|
C1855665|When viewed in lateral radiographs, vertebral bodies have a roughly rectangular configuration. This term applies if the vertebral body appears rounded or oval.|HPO|N|
C1855669|Aplasia of frontal sinus.|HPO|N|
C1855670|Any abnormality of the cornea, which is the transparent tissue at the front of the eye that covers the iris, pupil, and anterior chamber.|HPO|N|
C1855675|Classic Joubert syndrome (JS) is characterized by three primary findings: A distinctive cerebellar and brain stem malformation called the molar tooth sign (MTS). Hypotonia. Developmental delays. Often these findings are accompanied by episodic tachypnea or apnea and/or atypical eye movements. In general, the breathing abnormalities improve with age, truncal ataxia develops over time, and acquisition of gross motor milestones is delayed. Cognitive abilities are variable, ranging from severe intellectual disability to normal. Additional findings can include retinal dystrophy, renal disease, ocular colobomas, occipital encephalocele, hepatic fibrosis, polydactyly, oral hamartomas, and endocrine abnormalities. Both intra- and interfamilial variation are seen.|GeneReviews|N|
C1855676|Absence or underdevelopment of the vermis of cerebellum.|HPO|N|
C1855677|A developmental structural anomaly of the stalk-like part of the brain that comprises the midbrain (aka mesencephalon), the pons (aka pons Varolii), and the medulla oblongata, and connects the cerebral hemispheres with the cervical spinal cord.|HPO|N|
C1855681|The nephronophthisis (NPH) phenotype is characterized by reduced renal concentrating ability, chronic tubulointerstitial nephritis, cystic renal disease, and progression to end-stage renal disease (ESRD) before age 30 years. Three age-based clinical subtypes are recognized: infantile, juvenile, and adolescent/adult. Infantile NPH can present in utero with oligohydramnios sequence (limb contractures, pulmonary hypoplasia, and facial dysmorphisms) or postnatally with renal manifestations that progress to ESRD before age 3 years. Juvenile NPH, the most prevalent subtype, typically presents with polydipsia and polyuria, growth retardation, chronic iron-resistant anemia, or other findings related to chronic kidney disease (CKD). Hypertension is typically absent due to salt wasting. ESRD develops at a median age of 13 years. Ultrasound findings are increased echogenicity, reduced corticomedullary differentiation, and renal cysts (in 50% of affected individuals). Histologic findings include tubulointerstitial fibrosis, thickened and disrupted tubular basement membrane, sporadic corticomedullary cysts, and normal or reduced kidney size. Adolescent/adult NPH is clinically similar to juvenile NPH, but ESRD develops at a median age of 19 years. Within a subtype, inter- and intrafamilial variability in rate of progression to ESRD is considerable. Approximately 80%-90% of individuals with the NPH phenotype have no extrarenal features (i.e., they have isolated NPH); ~10%-20% have extrarenal manifestations that constitute a recognizable syndrome (e.g., Joubert syndrome, Bardet-Biedl syndrome, Jeune syndrome and related skeletal disorders, Meckel-Gruber syndrome, Senior-Løken syndrome, Leber congenital amaurosis, COACH syndrome, and oculomotor apraxia, Cogan type).|GeneReviews|N|
C1855682|Increase in thickness of the basement membrane of the tubulus of the kidney.|HPO|N|
C1855685|Lack of any response to stimulation upon electroretinography.|HPO|N|
C1855694|Developmental hypoplasia of the primary teeth.|HPO|N|
C1855698|A developmental defect resulting in the congenital absence of skin on the scalp.|HPO|N|
C1855705|Stromme syndrome is an autosomal recessive congenital disorder affecting multiple systems with features of a ciliopathy. Affected individuals typically have some type of intestinal atresia, variable ocular abnormalities, microcephaly, and sometimes involvement of other systems, including renal and cardiac. In some cases, the condition is lethal in early life, whereas other patients show normal survival with or without mild cognitive impairment (summary by Filges et al., 2016).|OMIM|N|
C1855710|A reduced number of hematopoietic cells present in the bone marrow relative to marrow fat.|HPO|N|
C1855722|Baraitser-Winter cerebrofrontofacial (BWCFF) syndrome is a multiple congenital anomaly syndrome characterized by typical craniofacial features and intellectual disability. Many (but not all) affected individuals have pachygyria that is predominantly frontal, wasting of the shoulder girdle muscles, and sensory impairment due to iris or retinal coloboma and/or sensorineural deafness. Intellectual disability, which is common but variable, is related to the severity of the brain malformations. Seizures, congenital heart defects, renal malformations, and gastrointestinal dysfunction are also common.|GeneReviews|N|
C1855728|Hair on the neck extends more inferiorly than usual.|HPO|N|
C1855733|Autosomal recessive familial visceral neuropathy-1 (VSCN1) is characterized by a broad spectrum of developmental anomalies associating neural crest and extraneural crest features, including intestinal dysmotility due to aganglionosis (Hirschsprung disease), hypoganglionosis, and/or chronic intestinal pseudoobstruction. Some patients develop progressive peripheral neuropathy, and arthrogryposis has been observed. Hypoplasia or aplasia of the olfactory bulb and of the external auditory canals, as well as microtia or anotia, have been reported. Patients also exhibit facial dysmorphisms, including microretrognathia in most; other variable features include structural cardiac anomalies and arthrogryposis with multiple pterygia (Le et al., 2021).
Genetic Heterogeneity of Familial Visceral Neuropathy
Autosomal recessive familial visceral neuropathy-2 (VSCN2; 619465) is caused by mutation in the ERBB2 gene (164870) on chromosome 17q12. Also see VSCN3 (609629) for an autosomal dominant form of the disorder.|OMIM|N|
C1855739|Hereditary sensory and autonomic neuropathy type II (HSAN2) is characterized by progressively reduced sensation to pain, temperature, and touch. Onset can be at birth and is often before puberty. The sensory deficit is predominantly distal with the lower limbs more severely affected than the upper limbs. Over time sensory function becomes severely reduced. Unnoticed injuries and neuropathic skin promote ulcerations and infections that result in spontaneous amputation of digits or the need for surgical amputation. Osteomyelitis is common. Painless fractures can complicate the disease. Autonomic disturbances are variable and can include hyperhidrosis, tonic pupils, and urinary incontinence in those with more advanced disease.|GeneReviews|N|
C1855752|An abnormality of T cells.|HPO|N|
C1855755|An abnormal deviation from normal levels of immunoglobulins in blood.|HPO|N|
C1855758|A developmental anomaly with lateral displacement of the femoral head.|HPO|N|
C1855767|Less than normal number of natural killer cells, a type of lymphocyte in the innate immune system with an ability to mediate cytotoxicity and produce cytokines after the ligation of a germline-encoded activation receptor.|HPO|N|
C1855772|With the current widespread use of multigene panels and comprehensive genomic testing, it has become apparent that the phenotypic spectrum of EPG5-related disorder represents a continuum. At the most severe end of the spectrum is classic Vici syndrome (defined as a neurodevelopmental disorder with multisystem involvement characterized by the combination of agenesis of the corpus callosum, cataracts, hypopigmentation, cardiomyopathy, combined immunodeficiency, microcephaly, and failure to thrive); at the milder end of the spectrum are attenuated neurodevelopmental phenotypes with variable multisystem involvement. Median survival in classic Vici syndrome appears to be 24 months, with only 10% of children surviving longer than age five years; the most common causes of death are respiratory infections as a result of primary immunodeficiency and/or cardiac insufficiency resulting from progressive cardiac failure. No data are available on life span in individuals at the milder end of the spectrum.|GeneReviews|N|
C1855781|Inability to react to a delayed hypersensitivity skin test.|HPO|N|
C1855787|Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome is characterised by nonbullous congenital ichthyosis, intellectual deficit, dwarfism and renal impairment. It has been described in four members of one Iranian family. Transmission is autosomal recessive.|ORDO|N|
C1855788|An ectodermal dysplasia syndrome characterized by severe generalized lamellar icthyosis at birth with alopecia, eclabium, ectropion and intellectual disability. Although similar to Sjogren-Larsson syndrome, this syndrome lacks the presence of neurologic or macular changes. There have been no further descriptions in the literature since 1987.|SNOMEDCT_US|N|
C1855789|Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of disorders of keratinization characterized primarily by abnormal skin scaling over the whole body. These disorders are limited to skin, with approximately two-thirds of patients presenting severe symptoms. The main skin phenotypes are lamellar ichthyosis (LI) and nonbullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur (summary by Fischer, 2009). Neither histopathologic findings nor ultrastructural features clearly distinguish between NCIE and LI. In addition, mutations in several genes have been shown to cause both lamellar and nonbullous ichthyosiform erythrodermal phenotypes (Akiyama et al., 2003). At the First Ichthyosis Consensus Conference in Soreze in 2009, the term 'autosomal recessive congenital ichthyosis' (ARCI) was designated to encompass LI, NCIE, and harlequin ichthyosis (ARCI4B; 242500) (Oji et al., 2010).
NCIE is characterized by prominent erythroderma and fine white, superficial, semiadherent scales. Most patients present with collodion membrane at birth and have palmoplantar keratoderma, often with painful fissures, digital contractures, and loss of pulp volume. In half of the cases, a nail dystrophy including ridging, subungual hyperkeratosis, or hypoplasia has been described. Ectropion, eclabium, scalp involvement, and loss of eyebrows and lashes seem to be more frequent in NCIE than in lamellar ichthyosis (summary by Fischer et al., 2000). In LI, the scales are large, adherent, dark, and pigmented with no skin erythema. Overlapping phenotypes may depend on the age of the patient and the region of the body. The terminal differentiation of the epidermis is perturbed in both forms, leading to a reduced barrier function and defects of lipid composition in the stratum corneum (summary by Lefevre et al., 2006).
In later life, the skin in ARCI may have scales that cover the entire body surface, including the flexural folds, and the scales are highly variable in size and color. Erythema may be very mild and almost invisible. Some affected persons exhibit scarring alopecia, and many have secondary anhidrosis (summary by Eckl et al., 2005).
Genetic Heterogeneity of Autosomal Recessive Congenital Ichthyosis
Autosomal recessive congenital ichthyosis-2 (ARCI2; 242100) is caused by mutation in the ALOX12B gene (603741) on chromosome 17p13. ARCI3 (606545) is caused by mutation in the ALOXE3 gene (607206) on chromosome 17p13. ARCI4A (601277) and ARCI4B (harlequin ichthyosis; 242500) are caused by mutation in the ABCA12 gene (607800) on chromosome 2q35. ARCI5 (604777) is caused by mutation in the CYP4F22 gene (611495) on chromosome 19p13. ARCI6 (612281) is caused by mutation in the NIPAL4 gene (ichthyin; 609383) on chromosome 5q33. ARCI7 (615022) has been mapped to chromosome 12p11. ARCI8 (613943) is caused by mutation in the LIPN gene (613924) on chromosome 10q23. ARCI9 (615023) is caused by mutation in the CERS3 gene (615276) on chromosome 15q26. ARCI10 (615024) is caused by mutation in the PNPLA1 gene (612121) on chromosome 6p21. ARCI11 (602400) is caused by mutation in the ST14 gene (606797) on chromosome 11q24. ARCI12 (617320) is caused by mutation in the CASP14 gene (605848) on chromosome 19p13. ARCI13 (617574) is caused by mutation in the SDR9C7 gene (609769) on chromosome 12q13. ARCI14 (617571) is caused by mutation in the SULT2B1 gene (604125) on chromosome 19q13.
Ichthyosis prematurity syndrome (608649) is a self-improving form of ichthyosis that includes respiratory complications at birth and persistent eosinophilia and is caused by mutation in the FATP4 (SLC27A4; 604194) gene. A rare syndromic form of NCIE, Chanarin-Dorfman syndrome (275630), is caused by mutation in the ABHD5 gene (604780).|OMIM|N|
C1855794|Bamforth-Lazarus syndrome (BAMLAZ) is a rare autosomal recessive disorder characterized by congenital hypothyroidism due to thyroid agenesis or thyroid hypoplasia, cleft palate, and spiky hair, with or without choanal atresia or bifid epiglottis (summary by Sarma et al., 2022).|OMIM|N|
C1855801|The presence of calcium-containing calculi (stones) in the kidneys.|HPO|N|
C1855828|Schisis (cleft or cleavage) of vertebral bodies.|HPO|N|
C1855840|Hypoparathyroidism-retardation-dysmorphism syndrome (HRDS) is an autosomal recessive multisystem disorder characterized by intrauterine and postnatal growth retardation, infantile-onset hypoparathyroidism that can result in severe hypocalcemic seizures, dysmorphic facial features, and developmental delay (summary by Padidela et al., 2009 and Ratbi et al., 2015).|OMIM|N|
C1855843|Intrauterine growth retardation that is 4 or more standard deviations below average, corrected for sex and gestational age.|HPO|N|
C1855845|Patchy (irregular) increase in bone density. This can take on many forms depending on severity and distribution as can be seen on x-rays.|HPO|N|
C1855848|Hypomandibular faciocranial syndrome consists of craniosynostosis, prominent eyes, deficient midface and zygomatic arches, short nose with anteverted nares, protruding lower face, minute oral aperture, persistent buccopharyngeal membrane, severe mandibular hypoplasia, and various extracephalic anomalies (summary by Gorlin et al., 2001).|OMIM|N|
C1855849|Bartter syndrome refers to a group of disorders that are unified by autosomal recessive transmission of impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and hypercalciuria. Clinical disease results from defective renal reabsorption of sodium chloride in the thick ascending limb (TAL) of the Henle loop, where 30% of filtered salt is normally reabsorbed (Simon et al., 1997).
Patients with antenatal forms of Bartter syndrome typically present with premature birth associated with polyhydramnios and low birth weight and may develop life-threatening dehydration in the neonatal period. Patients with classic Bartter syndrome (see BARTS3, 607364) present later in life and may be sporadically asymptomatic or mildly symptomatic (summary by Simon et al., 1996 and Fremont and Chan, 2012).
For a discussion of genetic heterogeneity of Bartter syndrome, see 607364.|OMIM|N|
C1855852|Diffusely large eye (with megalocornea) without glaucoma.|HPO|N|
C1855853|An impairment in the rate and degree to which platelets aggregate after the addition of an agonist that stimulates platelet clumping. Platelet aggregation is measured using aggregometer to measure the optical density of platelet-rich plasma, whereby platelet aggregation causes the plasma to become more transparent.|HPO|N|
C1855859|Syndrome with the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence. It has been described in three brothers from a consanguineous family. An autosomal recessive mode of transmission appears likely.|SNOMEDCT_US|N|
C1855861|Glycogen storage disease type 0 (also known as GSD 0) is a condition caused by the body's inability to form a complex sugar called glycogen, which is a major source of stored energy in the body. GSD 0 has two types: in muscle GSD 0, glycogen formation in the muscles is impaired, and in liver GSD 0, glycogen formation in the liver is impaired.\n\nIndividuals with liver GSD 0 usually show signs and symptoms of the disorder in infancy. People with this disorder develop low blood sugar (glucose), known as hypoglycemia, after going long periods of time without food (fasting). Signs of hypoglycemia become apparent when affected infants begin sleeping through the night and stop late-night feedings; these infants exhibit extreme tiredness (lethargy), pale skin (pallor), and nausea. During episodes of fasting, ketone levels in the blood may increase (ketosis). Ketones are molecules produced during the breakdown of fats, which occurs when stored sugars (such as glycogen) are unavailable. These short-term signs and symptoms of liver GSD 0 often improve when food is eaten and glucose levels in the body return to normal. The features of liver GSD 0 vary; they can be mild and go unnoticed for years, or they can include developmental delay and growth failure.\n\nThe signs and symptoms of muscle GSD 0 typically begin in early childhood. Affected individuals often experience muscle pain and weakness or episodes of fainting (syncope) following moderate physical activity, such as walking up stairs. The loss of consciousness that occurs with fainting typically lasts up to several hours. Some individuals with muscle GSD 0 have a disruption of the heart's normal rhythm (arrhythmia) known as long QT syndrome. In all affected individuals, muscle GSD 0 impairs the heart's ability to effectively pump blood and increases the risk of cardiac arrest and sudden death, particularly after physical activity. Sudden death from cardiac arrest can occur in childhood or adolescence in people with muscle GSD 0.|MedlinePlus Genetics|N|
C1855889|Abnormal increased size of the posterior cranial fossa.|HPO|N|
C1855895|Flaring of distal femur.|HPO|N|
C1855899|Increased side-to-side width of the first metatarsal bone.|HPO|N|
C1855900|X-linked congenital generalized hypertrichosis is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, which is characterized by hair overgrowth on the entire body in males, and mild and asymmetric hair overgrowth in females. It is associated with a mild facial dysmorphism (anterverted nostrils, moderate prognathism), and, in a kindred, it was also associated with dental anomalies and deafness.|ORDO|N|
C1855902|A rare genetic syndrome characterized by the association of congenital hypertrichosis in the anterior cervical region with peripheral sensory and motor neuropathy. Associated features may include retinal anomalies, spina bifida, kyphoscoliosis and hallux valgus, and developmental delay (one case). There have been no further descriptions in the literature since 1993.|ORDO|N|
C1855904|A very rare syndrome associating an acro-fronto-facio-nasal dysostosis with genitourinary anomalies. It has been described in three families. Craniofacial manifestations include wide anterior fontanelle, flat occiput, hypertelorism, ptosis, proptosis, broad nasal bridge and nasal tip, long philtrum and posteriorly rotated or low set ears. Hypospadias and shawl scrotum are present in all males. Acral manifestations include syndactyly of fingers, broad thumbs or halluces or preaxial polydactyly. The affected patients have no intellectual deficit. The condition seems to be hereditary, and transmitted as an autosomal recessive trait.|SNOMEDCT_US|N|
C1855923|Mabry syndrome is a condition characterized by intellectual disability, distinctive facial features, increased levels of an enzyme called alkaline phosphatase in the blood (hyperphosphatasia), and other signs and symptoms.\n\nPeople with Mabry syndrome have intellectual disability that is often moderate to severe. They typically have little to no speech development and are delayed in the development of motor skills (such as sitting, crawling, and walking). Many affected individuals have low muscle tone (hypotonia) and develop recurrent seizures (epilepsy) in early childhood. Seizures are usually the generalized tonic-clonic type, which involve muscle rigidity, convulsions, and loss of consciousness.\n\nIndividuals with Mabry syndrome have distinctive facial features that include wide-set eyes (hypertelorism), long openings of the eyelids (long palpebral fissures), a nose with a broad bridge and a rounded tip, downturned corners of the mouth, and a thin upper lip. These facial features usually become less pronounced over time.\n\nThe signs and symptoms of Mabry syndrome vary among affected individuals. Those who are least severely affected have only intellectual disability and hyperphosphatasia, without distinctive facial features or the other health problems listed above.\n\nHyperphosphatasia begins within the first year of life in people with Mabry syndrome. There are many different types of alkaline phosphatase found in tissues; the type that is increased in Mabry syndrome is called the tissue non-specific type and is found throughout the body. In affected individuals, alkaline phosphatase levels in the blood are usually increased by one to two times the normal amount, but can be up to 20 times higher than normal. The elevated enzyme levels remain relatively stable over a person's lifetime. Hyperphosphatasia appears to cause no negative health effects, but this finding can help health professionals diagnose Mabry syndrome.\n\nAnother common feature of Mabry syndrome is shortened bones at the ends of fingers (brachytelephalangy), which can be seen on x-ray imaging. Underdeveloped fingernails (nail hypoplasia) may also occur. Sometimes, individuals with Mabry syndrome have abnormalities of the digestive system, including narrowing or blockage of the anus (anal stenosis or anal atresia) or Hirschsprung disease, a disorder that causes severe constipation or blockage of the intestine. Rarely, affected individuals experience hearing loss.|MedlinePlus Genetics|N|
C1855925|A severe form of hypermetropia with over +5.00 diopters.|HPO|N|
C1855926|Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation-1 (HUMOP1) is characterized by an increased basal metabolic rate (BMR) manifest as increased sweating, polyphagia with poor weight gain, increased basal temperature, tachycardia, and tachypnea. Some patients may have mild muscle weakness. Skeletal muscle biopsy shows enlarged irregular mitochondria with proliferation of the cristae and inclusions. Biochemical studies show excessive oxygen consumption and mitochondrial respiratory activity that is loosely coupled or uncoupled to phosphorylation of ADP to ATP (summary by Haydar et al., 1971).
See also HUMOP2 (620085), caused by mutation in the ATP5F1B gene (102910) on chromosome 12q13.|OMIM|N|
C1855986|The presence of an elevated amount of 5-hydroxylysine in the urine. This compound is a hydroxylated derivative of the amino acid lysine that is present in certain collagens.|HPO|N|
C1855995|2-hydroxyglutaric aciduria is a condition that causes progressive damage to the brain. The major types of this disorder are called D-2-hydroxyglutaric aciduria (D-2-HGA), L-2-hydroxyglutaric aciduria (L-2-HGA), and combined D,L-2-hydroxyglutaric aciduria (D,L-2-HGA).\n\nThe main features of D-2-HGA are delayed development, seizures, weak muscle tone (hypotonia), and abnormalities in the largest part of the brain (the cerebrum), which controls many important functions such as muscle movement, speech, vision, thinking, emotion, and memory. Researchers have described two subtypes of D-2-HGA, type I and type II. The two subtypes are distinguished by their genetic cause and pattern of inheritance, although they also have some differences in signs and symptoms. Type II tends to begin earlier and often causes more severe health problems than type I. Type II may also be associated with a weakened and enlarged heart (cardiomyopathy), a feature that is typically not found with type I.\n\nL-2-HGA particularly affects a region of the brain called the cerebellum, which is involved in coordinating movements. As a result, many affected individuals have problems with balance and muscle coordination (ataxia). Additional features of L-2-HGA can include delayed development, seizures, speech difficulties, and an unusually large head (macrocephaly). Typically, signs and symptoms of this disorder begin during infancy or early childhood. The disorder worsens over time, usually leading to severe disability by early adulthood.\n\nCombined D,L-2-HGA causes severe brain abnormalities that become apparent in early infancy. Affected infants have severe seizures, weak muscle tone (hypotonia), and breathing and feeding problems. They usually survive only into infancy or early childhood.|MedlinePlus Genetics|N|
C1856001|A severe loss of myelin from nerve fibers in the central nervous system.|HPO|N|
C1856006|A rare vaginal malformation characterized by the presence of a complete or incomplete transverse septum at any level of the vagina (most frequently the upper or middle third), resulting from incomplete fusion between the Müllerian duct component and the urogenital sinus component of the vagina during embryogenesis. The condition is only rarely diagnosed in neonates or infants, unless it causes significant hydromucocolpos. Complete septa present with primary amenorrhea, cyclic pelvic pain, dyspareunia, or a pelvic mass consisting of accumulated menstrual blood, while incomplete septa may lead to dyspareunia and dysmenorrhea.|ORDO|N|
C1856016|Hydrolethalus-1 (HLS1) is an autosomal recessive lethal malformation syndrome characterized by hydrocephaly with absent upper midline structures of the brain, micrognathia, and polydactyly. Various other features such as cleft lip or palate, club feet, anomalies of the ears, eyes, and nose, keyhole-shaped defect in the occipital bone, abnormal genitalia, and congenital heart and respiratory organ defects have also been observed in affected individuals. Affected individuals are stillborn or die shortly after birth (summary by Mee et al., 2005).
Genetic Heterogeneity of Hydrolethalus Syndrome
See also HLS2 (614120), caused by mutation in the KIF7 gene (611254) on chromosome 15q26.|OMIM|N|
C1856017|Abnormal development of the adrenal gland.|HPO|N|
C1856019|An abnormality of the gyri (i.e., the ridges) of the cerebral cortex of the brain.|HPO|N|
C1856023|Any structural abnormality of the vagina.|HPO|N|
C1856026|A gap in the lower lip.|HPO|N|
C1856027|A bony defect in the skull base.|HPO|N|
C1856051|A multiple congenital anomalies syndrome described in two sisters and with the presence of hydrocephalus (onset in infancy), tall stature, joint laxity, and thoracolumbar kyphosis. There have been no further descriptions in the literature since 1989.|SNOMEDCT_US|N|
C1856052|A rare developmental disorder described in 4 siblings so far. Main characteristics include delayed fetal growth, hydrocephaly with patent aqueduct of Sylvius, underdeveloped lungs and various other anomalies such as small jaw, intestinal malrotation, shortness of lower limbs, bowed tibias and foot deformities.|SNOMEDCT_US|N|
C1856053|MARCH is an autosomal recessive lethal congenital disorder characterized by severe hydranencephaly with almost complete absence of the cerebral hemispheres, which are replaced by fluid, relative preservation of the posterior fossa structures, and renal dysplasia or agenesis. Affected fetuses either die in utero or shortly after birth, and show arthrogryposis and features consistent with anhydramnios. Histologic examination of residual brain tissue shows multinucleated neurons resulting from impaired cytokinesis (summary by Frosk et al., 2017).|OMIM|N|
C1856055|Autosomal recessive form of humeroradial synostosis (disease).|MONDO|N|
C1856057|Disorders of intracellular cobalamin metabolism have a variable phenotype and age of onset that are influenced by the severity and location within the pathway of the defect. The prototype and best understood phenotype is cblC; it is also the most common of these disorders. The age of initial presentation of cblC spans a wide range: In utero with fetal presentation of nonimmune hydrops, cardiomyopathy, and intrauterine growth restriction. Newborns, who can have microcephaly, poor feeding, and encephalopathy. Infants, who can have poor feeding and slow growth, neurologic abnormality, and, rarely, hemolytic uremic syndrome (HUS). Toddlers, who can have poor growth, progressive microcephaly, cytopenias (including megaloblastic anemia), global developmental delay, encephalopathy, and neurologic signs such as hypotonia and seizures. Adolescents and adults, who can have neuropsychiatric symptoms, progressive cognitive decline, thromboembolic complications, and/or subacute combined degeneration of the spinal cord.|GeneReviews|N|
C1856058|Methylenetetrahydrofolate reductase deficiency is a common inborn error of folate metabolism. The phenotypic spectrum ranges from severe neurologic deterioration and early death to asymptomatic adults. In the classic form, both thermostable and thermolabile enzyme variants have been identified (Rosenblatt et al., 1992).|OMIM|N|
C1856059|Methylenetetrahydrofolate Reductase (MTHFR) Deficiency is the most common genetic cause of elevated levels of homocysteine in the plasma (hyperhomocysteinemia). The MTHFR enzyme plays an important role in processing amino acids, specifically, the conversion of homocysteine to methionine. Genetic variations in the MTHFR gene can lead to impaired function or inactivation of this enzyme, which results in mildly elevated levels of homocysteine, especially in individuals who are also deficient in folate. In these individuals, a daily supplement of low dose folic acid may reduce and often normalize their homocysteine levels, but this has not been demonstrated to improve health outcomes. A common genetic variant in the MTHFR gene is a 677C>T polymorphism (NM_005957.4:c.665C>T, rs1801133). This variant encodes a thermolabile enzyme that is less active at higher temperatures. Individuals who carry two copies of this variant (“TT homozygous”) tend to have higher homocysteine levels and lower serum folate levels compared to controls. More than 25% of Hispanics and around 10-15% of North America Caucasians are estimated to be homozygous for the “thermolabile” variant (TT genotype). The TT genotype is least common in individuals of African descent (6%). Another common MTHFR variant, 1298A>C (NM_005957.4:c.1286A>C, rs1801131), does not cause increased homocysteine levels in heterozygous or homozygous individuals, but combined heterozygosity of 1298A>C and 677C>T results in an outcome similar to TT homozygous individuals. Until recently, it was thought that MTHFR deficiency, by causing elevated homocysteine levels, led to an increased risk of venous thrombosis, coronary heart disease, and recurrent pregnancy loss. However, more recent analysis has not found an association between elevated homocysteine levels and the risk of venous thrombosis or the risk of coronary heart disease. MTHFR polymorphism genotyping should not be ordered as part of the clinical evaluation for thrombophilia, recurrent pregnancy loss, or for at-risk family members. Rarely, more severe variants in the MTHFR gene can be a cause of an autosomal recessive inborn error or metabolism where extremely high levels of homocysteine accumulate in the urine and plasma. This can cause developmental delay, eye disorders, thrombosis, and osteoporosis. But more commonly, homocystinuria is caused by variants in a different gene (cystathionine beta-synthase, CBS).|Medical Genetics Summaries|N|
C1856061|Homocystinuria due to methylene tetrahydrofolate reductase (MTHFR) deficiency is a metabolic disorder characterised by neurological manifestations.|ORPHANET|N|
C1856087|Exaggerated concavity of the anterior or posterior surface of the vertebral body, i.e., the upper and lower vertebral endplates are hollowed inward.|HPO|N|
C1856089|Level of methionine in urine above the upper limit of normal.|HPO|N|
C1856095|An extremely rare lethal multiple congenital anomalies/dysmorphic syndrome with characteristics of renal agenesis with Potter sequence, cleft lip/palate, oral synechiae, cardiac defects, and skeletal abnormalities including postaxial polydactyly. Intestinal nonfixation and intrauterine growth restriction are also associated. There have been no further descriptions in the literature since 1988.|SNOMEDCT_US|N|
C1856110|A fatal malformative disorder with characteristics of Hirschsprung disease, hypoplastic nails, distal limb hypoplasia and minor craniofacial dysmorphic features (flat facies, upward slanting palpebral fissures, narrow philtrum, narrow, high arched palate, micrognathia, low set ears with abnormal helices). Hydronephrosis has also been reported. There have been no further descriptions in the literature since 1988.|SNOMEDCT_US|N|
C1856112|Hirschsprung disease-deafness-polydactyly syndrome is an extremely rare malformative association, described in only two siblings to date, characterized by Hirschsprung disease (defined by the presence of an aganglionic segment of variable extent in the terminal part of the colon that leads to symptoms of intestinal obstruction, including constipation and abdominal distension), polydactyly of hands and/or feet, unilateral renal agenesis, hypertelorism and congenital deafness. There have been no further descriptions in the literature since 1988.|ORDO|N|
C1856113|Mowat-Wilson syndrome (MWS) is characterized by distinctive facial features (widely spaced eyes, broad eyebrows with a medial flare, low-hanging columella, prominent or pointed chin, open-mouth expression, and uplifted earlobes with a central depression), congenital heart defects with predilection for abnormalities of the pulmonary arteries and/or valves, Hirschsprung disease or chronic constipation, genitourinary anomalies (particularly hypospadias in males), and hypogenesis or agenesis of the corpus callosum. Most affected individuals have moderate-to-severe intellectual disability. Speech is typically limited to a few words or is absent, with relative preservation of receptive language skills. Growth restriction with microcephaly and seizure disorder are also common. Most affected people have a happy demeanor and a wide-based gait that can sometimes be confused with Angelman syndrome.|GeneReviews|N|
C1856115|A conspicuously happy disposition, characterized by frequent smiling and laughing, which may be contextually inappropriate or unrelated to the situation.|HPO|N|
C1856117|An abnormal orientation of the earlobes such that they point out- and upward. That is, the lateral surface of ear lobe faces superiorly.|HPO|N|
C1856119|Columella extending inferior to the level of the nasal base, when viewed from the side.|HPO|N|
C1856121|Regional increase in the width (height) of the eyebrow.|HPO|N|
C1856123|An anomalous origin of the left pulmonary artery, such that it arises from the posterior aspect of the right pulmonary artery and passes between the trachea and esophagus to reach the left hilum.|HPO|N|
C1856127|Congenital bile acid synthesis defect type 2 is a disorder characterized by cholestasis, a condition that impairs the production and release of a digestive fluid called bile from liver cells. Bile is used during digestion to absorb fats and fat-soluble vitamins, such as vitamins A, D, E, and K. People with congenital bile acid synthesis defect type 2 cannot produce (synthesize) bile acids, which are a component of bile that stimulate bile flow and help it absorb fats and fat-soluble vitamins. As a result, an abnormal form of bile is produced.\n\nThe signs and symptoms of congenital bile acid synthesis defect type 2 often develop in infancy. Affected infants usually have a failure to gain weight and grow at the expected rate (failure to thrive) and yellowing of the skin and eyes (jaundice) due to impaired bile flow and a buildup of partially formed bile. Excess fat in the feces (steatorrhea) is another feature of congenital bile acid synthesis defect type 2. As the condition progresses, affected individuals can develop liver abnormalities including inflammation or chronic liver disease (cirrhosis). Some individuals with congenital bile acid synthesis defect type 2 cannot absorb certain fat-soluble vitamins, which can result in softening and weakening of the bones (rickets) or problems with blood clotting that lead to prolonged bleeding.\n\nIf left untreated, congenital bile acid synthesis defect type 2 typically leads to cirrhosis and death in childhood.|MedlinePlus Genetics|N|
C1856128|Hepatic veno-occlusive disease with immunodeficiency (VODI) is characterized by: (1) primary immunodeficiency; and (2) terminal hepatic lobular vascular occlusion and hepatic fibrosis manifest as hepatomegaly and/or hepatic failure. Onset is usually before age six months. The immunodeficiency comprises severe hypogammaglobulinemia, clinical evidence of T-cell immunodeficiency with normal numbers of circulating T cells, absent lymph node germinal centers, and absent tissue plasma cells. Bacterial and opportunistic infections including Pneumocystis jirovecii infection, mucocutaneous candidiasis, and enteroviral or cytomegalovirus infections occur. In the past the prognosis for affected individuals was poor, with 100% mortality in the first year of life if unrecognized and untreated with intravenous immunoglobulin (IVIG) and Pneumocystis jirovecii prophylaxis. However, with early recognition and treatment there is a marked improvement in prognosis.|GeneReviews|N|
C1856129|The presence of lymphangiectasis of the thyroid gland.|HPO|N|
C1856132|A developmental anomaly of renal lymphatics that results from a failure of the lymphatics to make communication with the rest of the lymph trunks. The abnormal lymphatics thus dilate and form cystic spaces at the renal sinus and in the perinephric space.|HPO|N|
C1856136|An abnormal conical morphology of the incisor tooth.|HPO|N|
C1856140|An abnormal dilatation of lymph vessels in the pericardium.|HPO|N|
C1856143|A rare thrombotic microangiopathy characterized by mechanical hemolytic anemia, thrombocytopenia, and renal dysfunction that is usually associated with prodromal enteritis caused by <i>Shigella dysentriae</i> type 1 or <i>E. Coli</i>.|ORDO|N|
C1856159|A rare genetic disease characterized by the presence of Müllerian duct derivatives (rudimentary uterus, fallopian tubes, and atretic vagina) and other genital anomalies (cryptorchidism, micropenis) in male newborns, intestinal and pulmonary lymphangiectasia, protein-losing enteropathy, hepatomegaly, and renal anomalies. Postaxial polydactyly, facial dysmorphism (including broad nasal bridge, bulbous nasal tip, long and prominent upper lip with smooth philtrum, hypertrophic alveolar ridges, and mild retrognathia, among other features), and short limbs have also been described. The syndrome is fatal in infancy.|ORDO|N|
C1856162|The presence of lymphangiectasis in the pancreas.|HPO|N|
C1856184|Isolated hemihyperplasia is an abnormality of cell proliferation leading to asymmetric overgrowth of one or more regions of the body. The term 'hemihyperplasia' has replaced the term 'hemihypertrophy' to describe accurately the increase in cell number found in these patients. The incidence of isolated hemihyperplasia is estimated to be 1 in 86,000. Idiopathic hemihypertrophy is associated with increased risk of embryonal cancers in childhood, particularly Wilms tumor (194070) (Shuman et al., 2006).
Hoyme et al. (1998) provided an anatomic classification of hemihyperplasia: complex hemihyperplasia is involvement of half of the body, including at least 1 arm and 1 leg; affected parts may be contralateral or ipsilateral. Simple hemihyperplasia is involvement of a single limb. See also facial hemihyperplasia (133900).
Although isolated hemihyperplasia is a distinct clinical entity, it can also occur as a feature of overgrowth syndromes, including Beckwith-Wiedemann syndrome (BWS; 130650), neurofibromatosis (NF1; 162200), Proteus syndrome (176920), and Klippel-Trenaunay-Weber syndrome (149000) (Shuman et al., 2006).|OMIM|N|
C1856186|This syndrome is characterized by sensorineural hearing loss, generalized enamel hypoplasia of the permanent dentition with normal primary dentition and nail defects (Beau''s lines and leukonychia). Less than 10 patients have been described so far. Transmission is autosomal recessive.|SNOMEDCT_US|N|
C1856194|The presence of an abnormally increased concentration of neutral amino acids in the urine. The neutral amino acids are tryptophan, alanine, asparagine, glutamine, histidine, isoleucine, leucine, phenylalanine, serine, threonine, tyrosine and valine.|HPO|N|
C1856197|A rare genetic congenital limb malformation disorder with characteristics of bilateral medial displacement of the hallux and preaxial polysyndactyly of the first toes. Radiographs show broad, shortened, misshapen first metatarsals and may associate incomplete or complete duplication of proximal phalanges and duplication or triplication of distal phalanges. There have been no further descriptions in the literature since 1980.|SNOMEDCT_US|N|
C1856198|Hall-Riggs syndrome is a very rare syndrome consisting of microcephaly with facial dysmorphism, spondylometaepiphyseal dysplasia and severe intellectual deficit.|ORDO|N|
C1856202|Gentle upward curve of the upper lip vermilion such that the center is placed well superior to the commissures.|HPO|N|
C1856203|Decreased size of the primary teeth.|HPO|N|
C1856223|A less than normal number of sternal ossification centers. The sternum is initially formed from bilateral sternal plates that chondrify and begin to fuse with ribs at 10 weeks gestational age. Ossification starts in the manubrium and upper part of the sternal body at the 6th month, in the middle of the sternal body at the 7th month, in the lower part of the body during the 1st postnatal year and in the xiphoid process between years 5 and 18. The number of ossification centers vary up to six, and it is the ossification centers that are visualized by prenatal ultrasound. This term describes a reduction in the number of ossification centers compared with age-related norms.|HPO|N|
C1856231|The presence of an abnormally thin calvarium.|HPO|N|
C1856241|Syndrome with the association of stubby, coarse, sparse and fragile hair, eyebrows and eyelashes with photosensitivity and nonprogressive intellectual deficit, without a demonstrable metabolic aberration. It has been described in three sisters born to consanguineous parents.|SNOMEDCT_US|N|
C1856244|Congenital grouped pigmentation of the retina is a rare disorder characterized by a grouping together of round to oval spots of pigment in one or more quadrants of the retina, except for the macula (summary by Renardel de Lavalette et al., 1991).|OMIM|N|
C1856245|Chronic granulomatous disease (CGD) is a primary immunodeficiency disorder of phagocytes (neutrophils, monocytes, macrophages, and eosinophils) resulting from impaired killing of bacteria and fungi. CGD is characterized by severe recurrent bacterial and fungal infections and dysregulated inflammatory responses resulting in granuloma formation and other inflammatory disorders such as colitis. Infections typically involve the lung (pneumonia), lymph nodes (lymphadenitis), liver (abscess), bone (osteomyelitis), and skin (abscesses or cellulitis). Granulomas typically involve the genitourinary system (bladder) and gastrointestinal tract (often the pylorus initially, and later the esophagus, jejunum, ileum, cecum, rectum, and perirectal area). Some males with X-linked CGD have McLeod neuroacanthocytosis syndrome as the result of a contiguous gene deletion. While CGD may present anytime from infancy to late adulthood, the vast majority of affected individuals are diagnosed before age five years. Use of antimicrobial prophylaxis and therapy has greatly improved overall survival.|GeneReviews|N|
C1856251|Chronic granulomatous disease (CGD) is a primary immunodeficiency disorder of phagocytes (neutrophils, monocytes, macrophages, and eosinophils) resulting from impaired killing of bacteria and fungi. CGD is characterized by severe recurrent bacterial and fungal infections and dysregulated inflammatory responses resulting in granuloma formation and other inflammatory disorders such as colitis. Infections typically involve the lung (pneumonia), lymph nodes (lymphadenitis), liver (abscess), bone (osteomyelitis), and skin (abscesses or cellulitis). Granulomas typically involve the genitourinary system (bladder) and gastrointestinal tract (often the pylorus initially, and later the esophagus, jejunum, ileum, cecum, rectum, and perirectal area). Some males with X-linked CGD have McLeod neuroacanthocytosis syndrome as the result of a contiguous gene deletion. While CGD may present anytime from infancy to late adulthood, the vast majority of affected individuals are diagnosed before age five years. Use of antimicrobial prophylaxis and therapy has greatly improved overall survival.|GeneReviews|N|
C1856255|Chronic granulomatous disease (CGD) is a primary immunodeficiency disorder of phagocytes (neutrophils, monocytes, macrophages, and eosinophils) resulting from impaired killing of bacteria and fungi. CGD is characterized by severe recurrent bacterial and fungal infections and dysregulated inflammatory responses resulting in granuloma formation and other inflammatory disorders such as colitis. Infections typically involve the lung (pneumonia), lymph nodes (lymphadenitis), liver (abscess), bone (osteomyelitis), and skin (abscesses or cellulitis). Granulomas typically involve the genitourinary system (bladder) and gastrointestinal tract (often the pylorus initially, and later the esophagus, jejunum, ileum, cecum, rectum, and perirectal area). Some males with X-linked CGD have McLeod neuroacanthocytosis syndrome as the result of a contiguous gene deletion. While CGD may present anytime from infancy to late adulthood, the vast majority of affected individuals are diagnosed before age five years. Use of antimicrobial prophylaxis and therapy has greatly improved overall survival.|GeneReviews|N|
C1856263|Immunodeficiency-59 and hypoglycemia (IMD59) is an autosomal recessive primary immunologic disorder characterized by combined immunodeficiency and recurrent septic infections of the respiratory tract, skin, and mucous membranes, as well as disturbed glucose metabolism. Granulocytopenia and B-cell and dendritic cell deficiency are present (Haapaniemi et al., 2017).|OMIM|N|
C1856266|Premature closure of the coronal suture of skull.|HPO|N|
C1856272|An association syndrome described only once in two sisters. They had a 46,XY karyotype, cleft lip and palate, preauricular pits and a ''squashed down'' appearance because of a short columella and small nares. Other anomalies included broad hands and feet, and a hypermuscular appearance. Cardiac, renal, musculoskeletal and ectodermal anomalies were also present. Ectodermal defects included ''punched out scalp defects'' and unusual positioning of hair whorls. They also had short stature, streak gonads, and mild developmental delay.|SNOMEDCT_US|N|
C1856285|An increase in the amount of glycogen stored in hepatocytes compared to normal.|HPO|N|
C1856361|A characteristic facial appearance with a round facial form, full cheeks, a short nose, and a relatively small chin.|HPO|N|
C1856399|Two forms of glutathione synthetase deficiency have been described; a mild form, referred to as glutathione synthetase deficiency of erythrocytes, causing hemolytic anemia, and a more severe form causing 5-oxoprolinuria with secondary neurologic involvement (266130).|OMIM|N|
C1856408|Encephalopathy with onset in the infantile period.|HPO|N|
C1856432|An increased concentration of dicarboxylic acid in the urine.|HPO|N|
C1856438|A decreased concentration of glucose in the blood associated with a reduced concentration of ketone bodies.|HPO|N|
C1856439|Primary congenital glaucoma (PCG) is characterized by elevated intraocular pressure (IOP), enlargement of the globe (buphthalmos), edema, and opacification of the cornea with rupture of Descemet's membrane (Haab's striae), thinning of the anterior sclera and iris atrophy, anomalously deep anterior chamber, and structurally normal posterior segment except for progressive glaucomatous optic atrophy. Symptoms include photophobia, blepharospasm, and excessive tearing. Typically, the diagnosis is made in the first year of life. Depending on when treatment is instituted, visual acuity may be reduced and/or visual fields may be restricted. In untreated individuals, blindness invariably occurs.|GeneReviews|N|
C1856465|Ghosal hematodiaphyseal dysplasia (GHDD) is an autosomal recessive disorder characterized by increased bone density with predominant diaphyseal involvement and aregenerative corticosteroid-sensitive anemia (summary by Genevieve et al., 2008).|OMIM|N|
C1856466|A rare multiple congenital anomalies/dysmorphic syndrome with characteristics of male, 46,XY gonadal dysgenesis, cleft palate, micrognathia, conotruncal heart defects and unspecific skeletal, brain and kidney anomalies.|SNOMEDCT_US|N|
C1856476|Gaucher disease (GD) encompasses a continuum of clinical findings from a perinatal lethal disorder to an asymptomatic type. The identification of three major clinical types (1, 2, and 3) and two other subtypes (perinatal-lethal and cardiovascular) is useful in determining prognosis and management. GD type 1 is characterized by the presence of clinical or radiographic evidence of bone disease (osteopenia, focal lytic or sclerotic lesions, and osteonecrosis), hepatosplenomegaly, anemia and thrombocytopenia, lung disease, and the absence of primary central nervous system disease. GD types 2 and 3 are characterized by the presence of primary neurologic disease; in the past, they were distinguished by age of onset and rate of disease progression, but these distinctions are not absolute. Disease with onset before age two years, limited psychomotor development, and a rapidly progressive course with death by age two to four years is classified as GD type 2. Individuals with GD type 3 may have onset before age two years, but often have a more slowly progressive course, with survival into the third or fourth decade. The perinatal-lethal form is associated with ichthyosiform or collodion skin abnormalities or with nonimmune hydrops fetalis. The cardiovascular form is characterized by calcification of the aortic and mitral valves, mild splenomegaly, corneal opacities, and supranuclear ophthalmoplegia. Cardiopulmonary complications have been described with all the clinical subtypes, although varying in frequency and severity.|GeneReviews|N|
C1856477|An abnormally slow velocity of horizontal saccadic eye movements.|HPO|N|
C1856478|Saccadic undershoot of horizontal saccadic eye movements, i.e., a horizontal saccadic eye movement that has less than the magnitude that would be required to gain fixation of the object.|HPO|N|
C1856483|Abnormal calcification of a cardiac valve.|HPO|N|
C1856559|Abnormally decreased rate of beta-galactosidase activity. Beta-galactosidase activity can be measured in leukocyte, fibroblast, or plasma.|HPO|N|
C1856560|The presence of foam cells in the bone marrow, generally demonstrated by bone-marrow aspiration or biopsy. Foam cells have a vacuolated appearance due to the presence of complex lipid deposits, giving them a foamy or soap-suds appearance.|HPO|N|
C1856599|Anterior tongue-like protrusions of the vertebral bodies.|HPO|N|
C1856603|Gamma-glutamylcysteine synthetase deficiency is 1 of 4 diseases involving enzymes in the gamma-glutamyl cycle (Meister, 1974). The other 3 disorders are glutathione synthetase deficiency (231900), 5-oxoprolinuria, which is a severe or generalized form of glutathione synthetase deficiency (266130), and gamma-glutamyl transpeptidase deficiency (231950). All except gamma-glutamyl transpeptidase deficiency are accompanied by hemolytic anemia (Larsson and Anderson, 2001).|OMIM|N|
C1856605|An indication that a lower than average level of glutathione was detected in a sample.|NCI|N|
C1856637|Ribs that are increased in width and taper to the posterior ends.|HPO|N|
C1856639|Aplasia or hypoplasia of the paranasal sinuses.|HPO|N|
C1856641|A flattened vertebral body shape with reduced distance between the vertebral endplates affecting the cervical spine.|HPO|N|
C1856646|An increased concentration of chloride in the sweat.|HPO|N|
C1856659|Polysplenia is a congenital disease manifested by multiple small accessory spleens.|HPO|N|
C1856660|An abnormality of the helix. The helix is the outer rim of the ear that extends from the insertion of the ear on the scalp (root) to the termination of the cartilage at the earlobe.|HPO|N|
C1856689|Friedreich ataxia (FRDA) is characterized by slowly progressive ataxia with onset usually before age 25 years (mean age at onset: 10-15 yrs). FRDA is typically associated with dysarthria, muscle weakness, spasticity particularly in the lower limbs, scoliosis, bladder dysfunction, absent lower-limb reflexes, and loss of position and vibration sense. Approximately two thirds of individuals with FRDA have cardiomyopathy, up to 30% have diabetes mellitus, and approximately 25% have an "atypical" presentation with later onset or retained tendon reflexes.|GeneReviews|N|
C1856691|A loss or impairment of the sensation of the relative position of parts of the body and joint position.|HPO|N|
C1856694|Inability to elicit tendon reflexes in the lower limbs.|HPO|N|
C1856714|Loose, wrinkled skin of hands and feet.|HPO|N|
C1856716|Subnormal concentration of follicle stimulating hormone (FSH), associated with mutations in the FSHB gene, encoding follitropin subunit beta.|NCI|N|
C1856718|Familial benign fleck retina is an autosomal recessive condition associated with a distinctive retinal appearance and no apparent visual or electrophysiologic deficits. Affected individuals are asymptomatic, but fundus examination reveals a striking pattern of diffuse, yellow-white, fleck-like lesions extending to the far periphery of the retina but sparing the foveal region (summary by Sergouniotis et al., 2011).|OMIM|N|
C1856727|This syndrome has features of fibuloulnar dysostosis with renal anomalies. It has been described in two siblings born to nonconsanguinous parents. The syndrome is lethal at birth (respiratory failure). Clinical manifestations include ear and facial anomalies (including micrognathia), symmetrical shortness of long bones, fibular agenesis and hypoplastic ulna, oligosyndactyly, congenital heart defects, and cystic or hypoplastic kidney. It is transmitted as an autosomal recessive trait.|SNOMEDCT_US|N|
C1856728|This syndrome has main characteristics of bowing of the femora, aplasia or hypoplasia of the fibulae and poly, oligo and syndactyly. It has been reported in 11 patients. Most of the patients also had a hypoplastic pelvis and hypoplasia of the fingers and fingernails. Some had congenital dislocation of the hip, absence or fusion of tarsal bones, absence of various metatarsals and hypoplasia and aplasia of the toes. The syndrome is caused by a partial loss of WNT7A function (gene mapped to 3p25).|SNOMEDCT_US|N|
C1856732|Absence or underdevelopment of the fibula.|HPO|N|
C1856738|Acromesomelic dysplasia-2B (AMD2B) is characterized by normal head and trunk, hypoplastic/dysplastic or absent fibulae, and severe hypoplastic/dysplastic hand/feet abnormalities. Mental development is normal (summary by Szczaluba et al., 2005).|OMIM|N|
C1856742|Malalignement of carpal bone angles either with respect to each other, to the corresponding metacarpals or with respect to the wrist (radius and ulna).|HPO|N|
C1856749|Absence or underdevelopment of the toenail.|HPO|N|
C1856761|A very rare syndrome characterized by the association of gingival fibromatosis and craniofacial dysmorphism.|ORDO|N|
C1856778|The presence of a coronal suture (the cranial suture that separates the frontal and parietal bones) that is not ossified but rather wide open at an age when it is normally closed.|HPO|N|
C1856779|The presence of a sagittal suture (the cranial suture that separates the left and right parietal bones) that is not ossified but rather wide open at an age when it is normally closed.|HPO|N|
C1856786|Underdevelopment of a fingernail.|HPO|N|
C1856789|A very rare malformation with main features of ectrodactyly of the hand and ipsilateral bifurcation of the femur. Approximately 200 cases have been reported worldwide. Congenital aplasia/hypoplasia of the tibia, accompanied by pre-axial oligodactyly or monodactyly of the feet, may also be present. In most cases, the bifurcation of the distal femur is unilateral. Patients are often small. Autosomal dominant and autosomal recessive modes of transmission have been suggested.|SNOMEDCT_US|N|
C1856790|A rare congenital limb malformation syndrome with characteristics of a highly variable combination of congenital anomalies of the femur, fibula and/or ulna, which can appear along with finger/toe anomalies at the ulnar/fibular side. Limb defects are asymmetrical, with upper limbs more often affected than lower limbs and the right side of the body more often affected than the left. Abnormalities of the upper limb include amelia, hypoplasia of the humerus, humero-radial synostosis and malformation of the ulna and ulnar rays. Abnormalities of the lower limb include absence of the proximal part of the femur and absence of the fibula. Axial skeleton, internal organs and intellectual function are usually normal.|SNOMEDCT_US|N|
C1856871|A very rare syndrome including short stature, facial dysmorphism, hand abnormalities and shawl scrotum. It has been observed in 16 subjects from five distantly related sibships of a large Kuwaiti Bedouin tribe. The affected patients had no intellectual deficit. Transmitted as an autosomal recessive trait.|SNOMEDCT_US|N|
C1856872|Low set, steeply sloping shoulders.|HPO|N|
C1856877|The ability of the joints of the hand to move beyond their normal range of motion.|HPO|N|
C1856883|An inherited bleeding disorder caused by the reduction in activity and antigen levels of both factor V and factor VIII with manifestation of mild-to-moderate bleeding symptoms. Caused by mutations either in the LMAN1 gene (chromosome 18; q21) or in the MCFD2 gene (chromosome 2). Transmission is autosomal recessive.|SNOMEDCT_US|N|
C1856886|Underdevelopment of the philtrum.|HPO|N|
C1856889|Syndactyly with fusion of fingers three and four.|HPO|N|
C1856891|Lethal faciocardiomelic dysplasia is an extremely rare polymalformative syndrome. It was described only once, in 1975, in 3 affected males in a sibship of 13, from second-cousin parents. Patients were all of low birth weight, had microretrognathia, microstomia, and microglossia, hypoplasia of the radius and ulna with radial deviation of the hands, simian creases and hypoplasia of fingers I and V, hypoplasia of the fibula and tibia with talipes and wide space between toes I and II, and severe malformation of the left heart which may have been responsible for death of all 3 in the first week or so of life.|SNOMEDCT_US|N|
C1856892|Thakker-Donnai syndrome is a rare, genetic, lethal, multiple congenital anomalies/dysmorphic syndrome characterized by facial dysmorphism (including long, downward slanting palpebral fissures, hypertelorism, posteriorly rotated ears, broad nasal bridge, short nose with a bulbous tip and anteverted nares, downturned corners of the mouth) as well as vertebral (occult spina bifida, hemivertebrae), brain (ventricular dilatation, agenesis of corpus callosum), cardiac (tetralogy of Fallot, ventricular septal defect) and gastrointestinal (short esophagus with intrathoracic stomach, small intestine, spleen and pancreas, anal atresia) malformations. There have been no further descriptions in the literature since 1991.|ORDO|N|
C1856895|Genetic Heterogeneity of Variation in Skin/Hair/Eye Pigmentation
Multiple genes influence normal human skin, hair, and/or eye pigmentation. Pigmentation phenotypes influenced by variation in the OCA2 gene are termed SHEP1. The SHEP2 association (266300) is determined by variation at the MC1R locus (155555) and describes a phenotype predominantly characterized by red hair and fair skin. SHEP3 (601800) encompasses pigment variation influenced by the TYR gene (606933); SHEP4 (113750), that influenced by the SLC24A5 gene (609802). Variation in the SLC45A2 (606202) and SLC24A4 (609840) genes result in the phenotypic associations SHEP5 (227240) and SHEP6 (210750), respectively. Sequence variation thought to affect expression of KITLG (184745) results in the SHEP7 (611664) phenotypic association. SHEP8 (611724) is associated with variation in the IRF4 gene (601900). Polymorphism in the 3-prime untranslated region of the ASIP gene (600201) influences the SHEP9 association (611742). The SHEP10 association (612267) comprises variation in the TPCN2 gene (612163), and SHEP11 (612271) is associated with polymorphism near the TYRP1 gene (115501).|OMIM|N|
C1856896|Eyebrow duplication-syndactyly syndrome is characterised by partial duplication of the eyebrows and syndactyly of the fingers and toes. It has been described in three patients (a brother and sister and an isolated case). Skin hyperelasticity, hypertrichosis and long eyelashes, and abnormal periorbital wrinkling were also reported in some of the patients. Transmission is autosomal recessive.|ORDO|N|
C1856897|Isolated gonadotropin-releasing hormone (GnRH) deficiency (IGD) is characterized by inappropriately low serum concentrations of the gonadotropins LH (luteinizing hormone) and FSH (follicle-stimulating hormone) in the presence of low circulating concentrations of sex steroids. IGD is associated with a normal sense of smell (normosmic IGD) in approximately 40% of affected individuals and an impaired sense of smell (Kallmann syndrome) in approximately 60%. IGD can first become apparent in infancy, adolescence, or adulthood. Infant boys with congenital IGD often have micropenis and cryptorchidism. Adolescents and adults with IGD have clinical evidence of hypogonadism and incomplete sexual maturation on physical examination. Adult males with IGD tend to have prepubertal testicular volume (i.e., <4 mL), absence of secondary sexual features (e.g., facial and axillary hair growth, deepening of the voice), decreased muscle mass, diminished libido, erectile dysfunction, and infertility. Adult females have little or no breast development and primary amenorrhea. Although skeletal maturation is delayed, the rate of linear growth is usually normal except for the absence of a distinct pubertal growth spurt.|GeneReviews|N|
C1856898|A rare skin disorder characterized by erythrodermic peeling skin from birth with no obvious nail or hair-shaft abnormalities and other associated anomalies including diarrhea, failure to thrive and severe hypoalbuminemia resistant to correction by enteral or intravenous supplementation. An autosomal recessive mode of inheritance is highly probable. The prognosis is poor and infants die in the first months of life. There have been no further descriptions in the literature since 1992.|SNOMEDCT_US|N|
C1856899|A rare deafness characterized by the association of bilateral sensorineural hearing loss and white hair with scattered black tufts, as well as skin areas of hyper- and hypopigmentation. Additional reported features include global developmental delay and moderate intellectual disability, growth retardation, microcephaly, hypotonia, mild dysmorphic facial features (deeply set eyes, broad nasal bridge, slight bowing of the upper lip), retinal depigmentation, anomalies of the fingers and toes, and white matter abnormalities on brain imaging.|ORDO|N|
C1856904|Reduced number of beta cells in the pancreatic islets of Langerhans.|HPO|N|
C1856911|Sclerosis of the epiphyses, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.|HPO|N|
C1856912|Short, hypoplastic middle phalanx of finger, affecting all fingers.|HPO|N|
C1856920|Underdevelopment of the femoral head.|HPO|N|
C1856923|An anomaly of the patella characterized by two layers visible on lateral knee X-ray such that one layer is in front of the other in the sagittal orientation (See Figure 2A and 3B of PMID:12966518). This finding persists into adulthood.|HPO|N|
C1856929|A rare, genetic, epilepsy syndrome characterized by epilepsy, palpebral conjunctival telangiectasias, borderline to moderate intellectual disability, diminished serum IgA levels, shortened fifth fingers and dysmorphic facial features (including frontal hirsutism, synophrys, anteverted nostrils, prominent ears, long philtrum, irregular teeth implantation, micrognathia). No new cases have been described in the literature since 1978.|ORDO|N|
C1856930|Celiac disease, epilepsy and cerebral calcification syndrome (CEC) is a rare disorder characterized by the combination of auto-immune intestinal disease, epileptic seizures and cerebral calcifications.|ORDO|N|
C1856934|An autosomal recessive condition caused by mutation(s), in the ITGA6 or ITGB4 genes, encoding integrin alpha-6 and integrin beta-4 respectively. It is characterized by junctional epidermolysis and pyloric stenosis/atresia.|NCI|N|
C1856954|Hyperkeratosis affecting the sole of the foot.|HPO|N|
C1856956|A type of blistering in which the lesions are located beneath the epidermis.|HPO|N|
C1856963|Nails that easily break.|HPO|N|
C1856969|A rare junctional epidermolysis bullosa subtype characterized by late-onset blistering surrounded by erythema and localized on the anterior aspect of the lower legs, associated with dystrophic toenails, tooth enamel defects and mild to severe intellectual disability. Lens subluxation and mild facial dysmorphism (with short midface, prognatism and thin upper lip vermilion) are additional reported features. There have been no further descriptions in the literature since 1992.|ORDO|N|
C1856972|The proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome is a rare, autosomal recessive, usually prenatally lethal disorder characterized by hydranencephaly, a distinctive glomerular vasculopathy in the central nervous system and retina, and diffuse ischemic lesions of the brain stem, basal ganglia, and spinal cord with calcifications. It is usually diagnosed by ultrasound between 26 and 33 weeks' gestation (summary by Meyer et al., 2010). Rarely, affected individuals may survive, but are severely impaired with almost no neurologic development (Kvarnung et al., 2016).|OMIM|N|
C1856973|Bonnemann-Meinecke-Reich syndrome is a syndrome of multiple congenital anomalies characterized by an encephalopathy which predominantly occurs in the first year of life and presenting as psychomotor delay. Additional features of the disease include moderate dysmorphia, craniosynostosis, dwarfism (due to growth hormone deficiency), intellectual disability, spasticity, ataxia, retinal degeneration, and adrenal and uterine hypoplasia. The disease has been described in only two families, with each family having two affected siblings. An autosomal recessive inheritance has been suggested. There have been no further descriptions in the literature since 1991.|ORDO|N|
C1856974|TSEN54 pontocerebellar hypoplasia (TSEN54-PCH) comprises three PCH phenotypes (PCH2, 4, and 5) that share characteristic neuroradiologic and neurologic findings. The three PCH phenotypes (which differ mainly in life expectancy) were considered to be distinct entities before their molecular basis was known. PCH2. Children usually succumb before age ten years (those with PCH4 and 5 usually succumb as neonates). Children with PCH2 have generalized clonus, uncoordinated sucking and swallowing, impaired cognitive development, lack of voluntary motor development, cortical blindness, and an increased risk for rhabdomyolysis during severe infections. Epilepsy is present in approximately 50%. PCH4. Neonates often have seizures, multiple joint contractures ("arthrogryposis"), generalized clonus, and central respiratory impairment. PCH5 resembles PCH4 and has been described in one family.|GeneReviews|N|
C1856979|Multiple areas of darker than expected signal on magnetic resonance imaging emanating from the deep cerebral white matter.|HPO|N|
C1856983|Increased concentration of interferon alpha in the cerebrospinal fluid (CSF).|HPO|N|
C1857011|Recurrent partial dislocations of the mandible.|HPO|N|
C1857013|Hyperkeratosis of the gingiva.|HPO|N|
C1857021|Pneumothorax occurring neonatally without traumatic injury to the chest or lung.|HPO|N|
C1857025|A progressive form of scoliosis with congenital onset.|HPO|N|
C1857038|Ehlers-Danlos syndromes (EDS) form a heterogeneous group of inherited connective tissue disorders characterized by variable joint hypermobility and cutaneous hyperextensibility. Type X is distinguished by platelet dysfunction associated with a fibronectin abnormality. Type X EDS has been described in only one family so far. Age of onset is about 13-25 years. Transmission is autosomal recessive.|MONDO|N|
C1857040|Ectrodactyly-polydactyly syndrome is a rare, genetic, congenital limb malformation disorder characterized by hypoplasia or absence of central digital rays of the hands and/or feet and the presence of one or more, unilateral or bilateral, supernumerary digits on postaxial rays, ranging from hypoplastic digits devoid of osseous structures to complete duplication of a digit. Cutaneous syndactyly, symphalangism and clinodactyly have also been reported. There have been no further descriptions in the literature since 1982.|ORDO|N|
C1857041|EEM syndrome denotes a disorder characterized by ectodermal dysplasia, ectrodactyly, and macular dystrophy. The ectodermal dysplasia consists of hypotrichosis affecting scalp hair, eyebrows, and eyelashes, with partial anodontia. Different degrees of absence deformities as well as syndactyly have been described, the hands often being more severely affected than the feet. The retinal lesion appears as a central geographic atrophy of the retinal pigment epithelium and choriocapillary layer of the macular area with coarse hyperpigmentations and sparing of the larger choroidal vessels (summary by Kjaer et al., 2005).|OMIM|N|
C1857042|Decreased number of hairs per unit area of skin of the scalp.|HPO|N|
C1857045|An abnormality of the philtrum.|HPO|N|
C1857048|Progressively reduced or lacking hair growth.|HPO|N|
C1857052|A rare, genetic, ectodermal dysplasia syndrome characterized by the association of hypohidrotic ectodermal dysplasia (manifesting with the triad of hypohidrosis, anodontia/hypodontia and hypotrichosis) with primary hypothyroidism and respiratory tract ciliary dyskinesia. Patients frequently present urticaria pigmentosa-like skin pigmentation, increased mast cells and melanin depositions in the dermis and severe, recurrent chest infections. There have been no further descriptions in the literature since 1986.|ORDO|N|
C1857053|Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome is a rare, multiple developmental anomalies syndrome characterized by the triad of ectodermal dysplasia (mostly hypohidrotic with dry skin and reduced sweating and sparse, fair scalp hair, eyebrows and eyelashes), severe intellectual disability and variable central nervous system anomalies (cerebellar hypoplasia, dilatation of ventricles, corpus callosum agenesis, Dandy-Walker malformation). Distinct craniofacial dysmorphism with macrocephaly, frontal bossing, midfacial hypoplasia and high arched or cleft palate, as well as cryptorchidism, feeding difficulties and hypotonia, are associated. There have been no further descriptions in the literature since 1998.|ORDO|N|
C1857068|Ectodermal dysplasia-sensorineural deafness syndrome is characterised by hidrotic ectodermal dysplasia, sensorineural hearing loss, and contracture of the fifth fingers. It has been described in brother and sister born to consanguineous parents. The girl also presented with thoracic scoliosis. The mode of inheritance is likely to be autosomal recessive.|ORDO|N|
C1857069|Schopf-Schulz-Passarge syndrome (SSPS) is an autosomal recessive disorder characterized by a constellation of multiple eyelid cysts, hypodontia, hypotrichosis, palmoplantar hyperkeratosis, and onychodystrophy (summary by Mallaiah and Dickinson, 2001).|OMIM|N|
C1857074|Lack of formation of mineralized bony tissue of the sternum.|HPO|N|
C1857093|Torsion dystonia-2 (DYT2) is an autosomal recessive neurologic disorder characterized by onset of symptoms in childhood or adolescence. 'Dystonia' is characterized by involuntary, sustained muscle contractions affecting 1 or more sites of the body; 'torsion' refers to the twisting nature of body movements observed in dystonia. DYT2 first affects distal limbs and later involves the neck, orofacial, and craniocervical regions. DYT2 is slowly progressive but mild overall (summary by Muller and Kupke, 1990; Nemeth, 2002; Khan et al., 2003).|OMIM|N|
C1857100|Silverman-Handmaker dyssegmental dysplasia (DDSH) is a lethal autosomal recessive skeletal dysplasia with anisospondyly and micromelia. Individuals with DDSH also have a flat face, micrognathia, cleft palate and reduced joint mobility, and frequently have an encephalocele. The endochondral growth plate is short, the calcospherites (spherical calcium-phosphorus crystals produced by hypertrophic chondrocytes) are unfused, and there is mucoid degeneration of the resting cartilage (summary by Arikawa-Hirasawa et al., 2001).|OMIM|N|
C1857101|Abnormally increased variability of the size of the vertebral bodies.|HPO|N|
C1857108|A reduction in the freedom of movement of one or more joints.|HPO|N|
C1857126|Parietal bossing is a marked prominence in the parietal region.|HPO|N|
C1857131|Aplasia of the paranasal sinuses.|HPO|N|
C1857137|Progressive bending or abnormal curvature of a long bone.|HPO|N|
C1857139|An abnormality of the pattern of trabecula (small interconnecting rods of bone) in a metaphyseal region of bone.|HPO|N|
C1857144|Dyskeratosis congenita and related telomere biology disorders (DC/TBD) are caused by impaired telomere maintenance resulting in short or very short telomeres. The phenotypic spectrum of telomere biology disorders is broad and includes individuals with classic dyskeratosis congenita (DC) as well as those with very short telomeres and an isolated physical finding. Classic DC is characterized by a triad of dysplastic nails, lacy reticular pigmentation of the upper chest and/or neck, and oral leukoplakia, although this may not be present in all individuals. People with DC/TBD are at increased risk for progressive bone marrow failure (BMF), myelodysplastic syndrome or acute myelogenous leukemia, solid tumors (usually squamous cell carcinoma of the head/neck or anogenital cancer), and pulmonary fibrosis. Other findings can include eye abnormalities (epiphora, blepharitis, sparse eyelashes, ectropion, entropion, trichiasis), taurodontism, liver disease, gastrointestinal telangiectasias, and avascular necrosis of the hips or shoulders. Although most persons with DC/TBD have normal psychomotor development and normal neurologic function, significant developmental delay is present in both forms; additional findings include cerebellar hypoplasia (Hoyeraal Hreidarsson syndrome) and bilateral exudative retinopathy and intracranial calcifications (Revesz syndrome and Coats plus syndrome). Onset and progression of manifestations of DC/TBD vary: at the mild end of the spectrum are those who have only minimal physical findings with normal bone marrow function, and at the severe end are those who have the diagnostic triad and early-onset BMF.|GeneReviews|N|
C1857171|Intermittent episodes of abnormally increased perspiration.|HPO|N|
C1857180|Abnormally increased size of the costochondral junctions, which are located between the distal part of the ribs and the costal cartilages, which are bars of hyaline cartilage that connect the ribs to the sternum.|HPO|N|
C1857186|Irregularities of the iliac crest that produce the appearance of a lace border around it.|HPO|N|
C1857190|Abnormally increased width of the pubic symphysis is the midline cartilaginous joint uniting the superior rami of the left and right pubic bones.|HPO|N|
C1857206|Decreased density/number and/or decreased diameter of lateral eyebrow hairs.|HPO|N|
C1857226|A very rare disorder with phocomelia of upper limbs, encephalocele, variable brain anomalies, urogenital abnormalities and thrombocytopenia. Less than 15 cases have been reported. The spectrum of upper limb defects varies from radial agenesis and phocomelia to amelia. A meningoencephalocele is constant. The intellectual development may be normal. Pathogenesis and cause of this syndrome are unknown. Parental consanguinity reported in a family suggests an autosomal recessive pattern of inheritance.|SNOMEDCT_US|N|
C1857227|A rare syndromic intestinal malformation characterized by the association of marfanoid features (including marfanoid habitus, severe myopia, retinal detachment, and mitral valve prolapse) with visceral diverticula (inguinal and/or femoral hernia and diverticula of the large and small bowel or urinary bladder). Some patients also had diaphragmatic eventration. There have been no further descriptions in the literature since 1996.|ORDO|N|
C1857242|Rhizomelic chondrodysplasia punctata (RCDP) is a peroxisomal disorder characterized by disproportionately short stature primarily affecting the proximal parts of the extremities, a typical facial appearance including a broad nasal bridge, epicanthus, high-arched palate, dysplastic external ears, and micrognathia, congenital contractures, characteristic ocular involvement, dwarfism, and severe mental retardation with spasticity. Biochemically, plasmalogen synthesis and phytanic acid alpha-oxidation are defective. Most patients die in the first decade of life. RCDP1 (215100) is the most frequent form of RCDP (summary by Wanders and Waterham, 2005). Whereas RCDP1 is a peroxisomal biogenesis disorder (PBD), RCDP2 is classified as a single peroxisome enzyme deficiency (Waterham and Ebberink, 2012).
For a discussion of genetic heterogeneity of rhizomelic chondrodysplasia punctata, see 215100.|OMIM|N|
C1857252|2,4-Dienoyl-CoA reductase deficiency (DECRD) is a rare autosomal recessive inborn error of metabolism resulting in mitochondrial dysfunction due to impaired production of NADPH, which is an essential cofactor for several mitochondrial enzymes. Affected individuals have a variable phenotype: some may have severe neurologic symptoms and metabolic dysfunction beginning in early infancy, whereas others may present with more subtle features, such as childhood-onset optic atrophy or intermittent muscle weakness. The variable severity is putatively dependent on the effect of the mutation on the NADK2 enzyme. Biochemical analysis typically shows hyperlysinemia, due to defective activity of the mitochondrial NADP(H)-dependent enzyme AASS (605113), which is usually a benign finding. More severe cases have increased C10:2-carnitine levels, due to defective activity of the enzyme DECR (DECR1; 222745) (summary by Houten et al., 2014 and Pomerantz et al., 2018).|OMIM|N|
C1857253|Dicarboxylic aminoaciduria (DCBXA) is characterized by a striking excretion of urinary glutamate and aspartate, resulting from the incomplete reabsorption of anionic amino acids from the glomerular filtrate in the kidney. Patients may have impaired intellectual development (summary by Bailey et al., 2011).|OMIM|N|
C1857276|Although the spectrum of phenotypic expression in trichohepatoenteric syndrome (THES) is broad, the characteristic features include intrauterine growth retardation, woolly hair, facial dysmorphism, intractable diarrhea in infancy requiring total parenteral nutrition, and immunodepression. Hepatic involvement contributes to the poor prognosis of affected patients (summary by Fabre et al., 2007).
Genetic Heterogeneity of Trichohepatoenteric Syndrome
Trichohepatoenteric syndrome-2 (THES2; 614602) is caused by mutation in the SKIV2L gene (SKIC2; 600478) on chromosome 6p21.
Reviews
Bourgeois et al. (2018) analyzed a cohort of 96 patients with THES from 85 different families, drawing from published reports (37 patients) and their own recruitment (59 patients). Approximately two-thirds of the patients carried biallelic TTC37 mutations, and one-third had SKIVL2 mutations; in 8 (8.3%) of the patients, only 1 mutation could be identified. Intractable diarrhea was present in 100% of patients regardless of genotype, with hair abnormalities (woolly, brittle, easily removable) present in 90%. Facial dysmorphisms were observed in 84% of clinically described patients, comprising primarily large forehead, broad nasal root, and hypertelorism. Intrauterine growth retardation was frequent, seen in 70% of TTC37-mutated patients and 86% of SKIV2L-mutated patients; however, there was no significant difference in postnatal growth between the 2 groups. Liver disease was common, and more frequent in patients with mutation in SKIV2L (88%) than in TTC37 (51%); findings ranged from elevated liver enzymes and hepatomegaly to fibrosis and cirrhosis. Immunodeficiency was reported in about half of clinically explored patients, presenting as low immunoglobulin count or lack of antibody response to immunization. In addition, approximately 40% to 50% of patients exhibited dermatologic abnormalities, mostly cafe-au-lait spots located on the lower limbs. Overall, the authors noted that THES patients with mutation in either gene exhibit remarkably similar clinical signs, involving primarily the gastrointestinal tract, hair, and face, and are indistinguishable in clinical practice. However, a few differences emerged from analysis of the cohort, with SKIV2L-associated THES showing an earlier onset and/or greater severity, with more severe liver disease and significantly smaller height and weight at birth.|OMIM|N|
C1857277|Donnai-Barrow syndrome (DBS) is characterized by typical craniofacial features (large anterior fontanelle, wide metopic suture, widow's peak, markedly widely spaced eyes, enlarged globes, downslanted palpebral fissures, posteriorly rotated ears, depressed nasal bridge, and short nose. Ocular complications include high myopia, retinal detachment, retinal dystrophy, and progressive vision loss. Additional common features include agenesis of the corpus callosum, sensorineural hearing loss, intellectual disability, and congenital diaphragmatic hernia and/or omphalocele. Both inter- and intrafamilial phenotypic variability are observed.|GeneReviews|N|
C1857280|Skin crease extending from below the inner canthus laterally along the malar process of the maxilla and zygoma.|HPO|N|
C1857284|Congenital diaphragmatic hernia is a defect in the diaphragm. The diaphragm, which is composed of muscle and other fibrous tissue, separates the organs in the abdomen from those in the chest. Abnormal development of the diaphragm before birth leads to defects ranging from a thinned area in the diaphragm to its complete absence. An absent or partially formed diaphragm results in an abnormal opening (hernia) that allows the stomach and intestines to move into the chest cavity and crowd the heart and lungs. This crowding can lead to underdevelopment of the lungs (pulmonary hypoplasia), potentially resulting in life-threatening breathing difficulties that are apparent from birth.\n\nIn 5 to 10 percent of affected individuals, signs and symptoms of congenital diaphragmatic hernia appear later in life and may include breathing problems or abdominal pain from protrusion of the intestine into the chest cavity. In about 1 percent of cases, congenital diaphragmatic hernia has no symptoms; it may be detected incidentally when medical imaging is done for other reasons.\n\nCongenital diaphragmatic hernias are often classified by their position. A Bochdalek hernia is a defect in the side or back of the diaphragm. Between 80 and 90 percent of congenital diaphragmatic hernias are of this type. A Morgnani hernia is a defect involving the front part of the diaphragm. This type of congenital diaphragmatic hernia, which accounts for approximately 2 percent of cases, is less likely to cause severe symptoms at birth. Other types of congenital diaphragmatic hernia, such as those affecting the central region of the diaphragm, or those in which the diaphragm muscle is absent with only a thin membrane in its place, are rare.|MedlinePlus Genetics|N|
C1857287|No consensus exists on what a stroke-like episode is, but these episodes can be functionally defined as a new neurological deficit, occurring with or without the context of seizures, which last longer than 24 hours.|HPO|N|
C1857297|A rare, genetic, renal tubular disease characterised by nephrogenic diabetes insipidus, intracerebral calcifications, intellectual disability, short stature and facial dysmorphism. There have been no further descriptions in the literature since 1990.|ORDO|N|
C1857301|Disease with characteristics of recurrent skin ulceration, arthralgia, fever, peri-articular osteolysis, oligodontia and nail dystrophy. This disease has been described in five siblings in a family of Kirghizian origin (Central Asia). Three of the siblings also presented with keratitis leading to visual impairment or blindness. Transmission is autosomal recessive.|SNOMEDCT_US|N|
C1857304|Chronic loss of joint motion in a finger due to structural changes in non-bony tissue.|HPO|N|
C1857308|A cataract that affects the anterior part of the cortex of the lens.|HPO|N|
C1857314|This syndrome is characterized by the association of a progressive leukodystrophy marked by generalized mental and motor impairment with the presence of thickened and wrinkled skin. It has been described in a Japanese brother and sister born to healthy parents. Both patients died in early childhood.|SNOMEDCT_US|N|
C1857316|Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL) is characterized by fractures (resulting from radiologically demonstrable polycystic osseous lesions), frontal lobe syndrome, and progressive presenile dementia beginning in the fourth decade. The clinical course of PLOSL can be divided into four stages: 1. The latent stage is characterized by normal early development. 2. The osseous stage (3rd decade of life) is characterized by pain and tenderness, mostly in ankles and feet, usually following strain or injury. Fractures are typically diagnosed several years later, most commonly in the bones of the extremities. 3. In the early neurologic stage (4th decade of life), a change of personality begins to develop insidiously. Affected individuals show a frontal lobe syndrome (loss of judgment, euphoria, loss of social inhibitions, disturbance of concentration, and lack of insight, libido, and motor persistence) leading to serious social problems. 4. The late neurologic stage is characterized by progressive dementia and loss of mobility. Death usually occurs before age 50 years.|GeneReviews|N|
C1857333|Rare syndrome with manifestation of sensorineural hearing loss and oligodontia/hypodontia. It has been described in two pairs of siblings and in one isolated case. Transmission appears to be autosomal recessive.|SNOMEDCT_US|N|
C1857338|Syndrome with characteristics of progressive sensorineural deafness, progressive sensory neuropathy and gastrointestinal abnormalities (progressive loss of gastric motility, small bowel diverticulosis). It has been described in five patients (three sisters in a family and two sisters born to consanguineous parents). This syndrome is transmitted as an autosomal recessive trait.|SNOMEDCT_US|N|
C1857339|Deafness-vitiligo-achalasia syndrome is characterized by the association of deafness, short stature, vitiligo, muscle wasting, and achalasia.|ORDO|N|
C1857340|A rare genetic ectodermal dysplasia syndrome with characteristics of conductive hearing loss due to atresia of the external auditory canal and the middle ear complicated by chronic infection, ptosis and skeletal anomalies (internal rotation of hips, dislocation of the radial heads and fifth finger clinodactyly). In addition, a thin, pinched nose, delayed hair growth and dysplastic teeth are associated. There have been no further descriptions in the literature since 1978.|SNOMEDCT_US|N|
C1857341|A very rare, syndromic genetic deafness characterized by mild to moderate conductive hearing loss, dysmorphic pinnae and lip pits or dimples. The pinnae are usually small, cup-shaped, with helix folded forward, and hearing loss is associated with malformed ossicles and displacement of the external auditory canal.|ORDO|N|
C1857344|Split-hand/foot malformation-1 with sensorineural hearing loss (SHFM1D) is an autosomal recessive disorder characterized by severe limb defects and moderate to severe hearing loss. There is nearly complete palmar dorsalization, with circumferential fingernails (Shamseldin et al., 2012).
For a general phenotypic description and a discussion of genetic heterogeneity of split-hand/foot malformation, see SHFM1 (183600).|OMIM|N|
C1857351|A syndromic disorder with the association between Dandy-Walker malformation and postaxial polydactyly as a major feature. The Dandy-Walker malformation has a variable expression and characteristics of a posterior fossa cyst communicating with the fourth ventricle, the partial or complete absence of the cerebellar vermis, and facultative hydrocephalus. Postaxial polydactyly includes tetramelic postaxial polydactyly of hands and feet with possible enlargement of the fifth metacarpal and metatarsal bones, as well as bifid fifth metacarpals.|SNOMEDCT_US|N|
C1857352|A rare multiple congenital anomalies/dysmorphic syndrome characterized by severe intellectual deficit, Dandy-Walker malformation, macrocephaly, severe myopia, brachytelephalangy with short and broad fingernails, and dysmorphic facial features (such as thick eyebrows, synophrys, epicanthal folds, low-set ears, short philtrum, and high-arched palate). Additional reported manifestations include seizures and skeletal and genital anomalies, among others. There have been no further descriptions in the literature since 1989.|ORDO|N|
C1857353|A discrete posterior fossa cerebrospinal fluid (CSF) collection that does not communicate directly with the fourth ventricle.|HPO|N|
C1857355|Mitochondrial complex IV deficiency nuclear type 5 (MC4DN5) is an autosomal recessive severe metabolic multisystemic disorder with onset in infancy. Features include delayed psychomotor development, impaired intellectual development with speech delay, mild dysmorphic facial features, hypotonia, ataxia, and seizures. There is increased serum lactate and episodic hypoglycemia. Some patients may have cardiomyopathy, abnormal breathing, or liver abnormalities, reflecting systemic involvement. Brain imaging shows lesions in the brainstem and basal ganglia, consistent with a diagnosis of Leigh syndrome (see 256000). Affected individuals tend to have episodic metabolic and/or neurologic crises in early childhood, which often lead to early death (summary by Debray et al., 2011).
For a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see 220110.|OMIM|N|
C1857395|A rare generalized, genetic disorder of proximal tubular transport characterized by excessive urine output with loss of low molecular weight solutes (amino acids, glucose, low-molecular weight proteins, organic acids, carnitine, calcium, phosphate, potassium, bicarbonate) and water, and which can be life threatening.|ORDO|N|
C1857423|Ventriculomegaly with cystic kidney disease is a severe autosomal recessive developmental disorder characterized by onset in utero of dilated cerebral ventricles and microscopic renal tubular cysts. The pregnancies of affected individuals are associated with increased alpha-fetoprotein (AFP). Most affected pregnancies have been terminated (summary by Slavotinek et al., 2015).
See also 602200 for a disorder characterized by ventriculomegaly and defects of the radius and kidney.|OMIM|N|
C1857434|A bleb is a small gas-containing space within the visceral pleura or in the subpleural lung, not larger than 1 cm in diameter. CT findings show a bleb as a thin-walled cystic air space contiguous with the pleura.|HPO|N|
C1857449|A rare inflammatory bowel disease characterized by early cutaneous photosensitivity manifesting by sun-induced facial erythematous and vesicular lesions and severe recurent colitis which lead to untreatable diarrhea. There have been no further descriptions in the literature since 1991.|ORDO|N|
C1857451|ACTH-independent macronodular adrenal hyperplasia (AIMAH) is an endogenous form of adrenal Cushing syndrome characterized by multiple bilateral adrenocortical nodules that cause a striking enlargement of the adrenal glands. Although some familial cases have been reported, the vast majority of AIMAH cases are sporadic. Patients typically present in the fifth or sixth decade of life, approximately 10 years later than most patients with other causes of Cushing syndrome (Swain et al., 1998; Christopoulos et al., 2005).
Approximately 10 to 15% of adrenal Cushing syndrome is due to primary bilateral ACTH-independent adrenocortical pathology. The 2 main subtypes are AIMAH and primary pigmented nodular adrenocortical disease (PPNAD; see 610489), which is often a component of the Carney complex (160980) and associated with mutations in the PRKAR1A gene (188830). AIMAH is rare, representing less than 1% of endogenous causes of Cushing syndrome (Swain et al., 1998; Christopoulos et al., 2005).
See also ACTH-independent Cushing syndrome (615830) due to somatic mutation in the PRKACA gene (601639).
Cushing 'disease' (219090) is an ACTH-dependent disorder caused in most cases by pituitary adenomas that secrete excessive ACTH.
Genetic Heterogeneity of ACTH-Independent Macronodular Adrenal Hyperplasia
AIMAH2 (615954) is caused by germline mutation on 1 allele of the ARMC5 gene (615549) coupled with a somatic mutation in the other allele.|OMIM|N|
C1857453|Absence or underdevelopment of the kidney.|HPO|N|
C1857455|A pattern of hair growth in which there is hair extending from the temples to the lateral eyebrows.|HPO|N|
C1857456|An abnormality of the morphology or structure of the middle ear.|HPO|N|
C1857471|Characterised by frontal encephalocoele, craniosynostosis, and developmental delay.|SNOMEDCT_US|N|
C1857472|A recessive syndrome characterized by craniosynostosis, intellectual disability, seizures, choroidal coloboma, dysplastic kidneys, bat ears, cleft lip and palate, and beaked nose.|MONDO|N|
C1857476|The presence of multiple areas of atresia affecting the small intestine.|HPO|N|
C1857479|Reduced distance from the anterior border of the naris to the subnasale.|HPO|N|
C1857482|Fingers that are disproportionately narrow (reduced girth) for the hand/foot size or build of the individual.|HPO|N|
C1857483|Poorly defined or shallow palmar creases.|HPO|N|
C1857484|Abnormal vertical height of the skull and a shortening of its anterior-posterior length, frequently combined with malformations of the occipital region.|HPO|N|
C1857485|A forehead with abnormal flatness.|HPO|N|
C1857486|Ears that are low-set and posteriorly rotated.|HPO|N|
C1857492|Craniosynostosis-fibular aplasia is an extremely rare genetic disease, reported in only 2 brothers to date, characterized by the combination of craniosynostosis (involving both coronal sutures), congenital absence of the fibula, cryptorchidism, and bilateral simian creases. Intelligence is normal and an autosomal recessive mode of inheritance has been proposed. There have been no further reports in the literature since 1972.|MONDO|N|
C1857495|An extremely rare disorder found in less than ten patients worldwide with characteristics of congenital heart defect, sagittal craniosynostosis and severe developmental delay. Genital and renal anomalies, and various dysmorphic features may be present. Joint and palpebral abnormalities may also occur. The occurrence of the syndrome in a brother-sister sibship supports the hypothesis of autosomal recessive inheritance. Autosomal dominant inheritance and submicroscopic deletions have also been proposed as possible causes.|SNOMEDCT_US|N|
C1857501|Excessive growth (overgrowth) of the facial bones, that is of the facial skeleton.|HPO|N|
C1857505|An abnormal conformation of the femur that becomes gradually enlarged towards the distal end. This feature affects the distal femoral metaphysis and epiphysis.|HPO|N|
C1857508|Uneven (irregular) increase in bone density of one or more of the phalanges of the hand.|HPO|N|
C1857511|A rare cranial malformation syndrome characterized by the premature closure of both lambdoid sutures and the posterior sagittal suture, resulting in abnormal skull contour (frontal bossing, anterior turricephaly with mild brachycephaly, biparietal narrowing, occipital concavity) and dysmorphic facial features (low-set ears, midfacial hypoplasia). Short stature, developmental delay, epilepsy, and oculomotor dyspraxia have also been reported. Associated anomalies include enlargement of the cerebral ventricles, agenesis of the corpus callosum, Arnold-Chiari malformation type I, venous anomalies of skull, and hydrocephalus.|ORDO|N|
C1857512|Temtamy syndrome is a mental retardation/multiple congenital anomaly syndrome characterized by variable craniofacial dysmorphism, ocular coloboma, seizures, and brain abnormalities, including abnormalities of the corpus callosum and thalamus (summary by Akizu et al., 2013).|OMIM|N|
C1857527|Abnormal flatness (decreased height) of epiphyses.|HPO|N|
C1857532|A very rare syndrome characterized by poorly mineralized calvarium, facial dysmorphism, vertebral abnormalities and absent clavicles. Nine cases have been reported in the literature so far. Dysmorphic features include micrognathia, cleft palate, hypertelorism and upturned nares. Clavicular aplasia is constant and agenesis of cervical vertebral bodies is frequent. Intra uterine growth retardation is constant. It is most likely that the condition is hereditary, transmitted as an autosomal recessive trait. Prognosis is poor, the syndrome is almost always lethal soon after birth.|SNOMEDCT_US|N|
C1857539|Excessively deep creases of the palm.|HPO|N|
C1857568|A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by congenital, total, cortical blindness, intellectual disability, postaxial polydactyly of the hands and feet, pre- and postnatal growth delay, psychomotor developmental retardation, and mild facial dysmorphism (incl. prominent forehead, short nose, long philtrum, high-arched palate, and microretrognathia). Recurrent respiratory and intestinal infections, as well as moderate hypertonia and hyperreflexia, are also associated. There have been no further descriptions in the literature since 1985.|ORDO|N|
C1857569|Corneal endothelial dystrophy is characterized by thickening and opacification of the cornea, altered morphology of the endothelium, and secretion of an abnormal collagenous layer at the Descemet membrane (summary by Vithana et al., 2006).|OMIM|N|
C1857572|Harboyan syndrome, or corneal dystrophy and perceptive deafness (CDPD), consists of congenital corneal endothelial dystrophy and progressive sensorineural deafness, and is transmitted as an autosomal recessive trait (summary by Desir et al., 2007).|OMIM|N|
C1857574|Cornea plana is clinically characterized by reduced corneal curvature leading in most cases to hyperopia, hazy corneal limbus, and arcus lipoides at an early age. CNA2 is a severe form of the disorder, which is frequently associated with additional ocular manifestations (summary by Tahvanainen et al., 1996).
For discussion of genetic heterogeneity of CNA, see CNA1 (121400).|OMIM|N|
C1857576|An extremely rare arthrogryposis syndrome, described in only two pairs of siblings from two unrelated families to date, and characterized by the association of arthrogryposis, congenital torticollis, dysmorphic facial features (i.e. asymmetry of the face, myopathic facial movements, ptosis, posteriorly rotated ears, cleft palate), progressive scoliosis and episodes of malignant hyperthermia. There have been no further descriptions in the literature since 1988.|ORDO|N|
C1857580|A facial cleft characterized by involvement of the orbit.|HPO|N|
C1857586|A group of congenital cardiac outflow tract anomalies that include such defects as tetralogy of Fallot, pulmonary atresia with ventricular septal defect, double-outlet right ventricle (DORV), double-outlet left ventricle, truncus arteriosus and transposition of the great arteries (TGA), among others. This group of defects is frequently found in patients with 22q11.2 deletion syndrome . A deletion of chromosome 22q11.2 has equally been associated in a subset of patients with various types of isolated non-syndromic conotruncal heart malformations (with the exception of DORV and TGA where this is very uncommon).|ORDO|N|
C1857587|A rare, genetic, multiple congenital anomalies syndrome characterized by congenital heart defects (e.g. coarctation of the aorta with or without atrioventricular canal and subaortic stenosis), associated with tongue hamartomas, postaxial hand polydactyly and toe syndactyly.|ORDO|N|
C1857588|A rare, syndromic, inherited retinal disorder characterized by cone-rod type congenital amaurosis, severe retinal dystrophy leading to visual impairment and profound photophobia (without night blindness), and trichomegaly (bushy eyebrows with synophrys, excessive facial and body hair (including marked circumaleolar hypertrichosis). There have been no further descriptions in the literature since 1989.|ORDO|N|
C1857618|Achromatopsia is characterized by reduced visual acuity, pendular nystagmus, increased sensitivity to light (photophobia), a small central scotoma, eccentric fixation, and reduced or complete loss of color discrimination. All individuals with achromatopsia (achromats) have impaired color discrimination along all three axes of color vision corresponding to the three cone classes: the protan or long-wavelength-sensitive cone axis (red), the deutan or middle-wavelength-sensitive cone axis (green), and the tritan or short-wavelength-sensitive cone axis (blue). Most individuals have complete achromatopsia, with total lack of function of all three types of cones. Rarely, individuals have incomplete achromatopsia, in which one or more cone types may be partially functioning. The manifestations are similar to those of individuals with complete achromatopsia, but generally less severe. Hyperopia is common in achromatopsia. Nystagmus develops during the first few weeks after birth followed by increased sensitivity to bright light. Best visual acuity varies with severity of the disease; it is 20/200 or less in complete achromatopsia and may be as high as 20/80 in incomplete achromatopsia. Visual acuity is usually stable over time; both nystagmus and sensitivity to bright light may improve slightly. Although the fundus is usually normal, macular changes (which may show early signs of progression) and vessel narrowing may be present in some affected individuals. Defects in the macula are visible on optical coherence tomography.|GeneReviews|N|
C1857619|Macular coloboma-cleft palate-hallux valgus syndrome is characterised by the association of bilateral macular coloboma, cleft palate, and hallux valgus. It has been described in a brother and sister. Pelvic, limb and digital anomalies were also reported. Transmission is autosomal recessive.|ORDO|N|
C1857624|Familial reactive perforating collagenosis is a very rare genetic skin disease characterized by transepidermal elimination of collagen fibers presenting as recurrent spontaneously involuting keratotic papules or nodules.|ORDO|N|
C1857632|For children from birth to 4 years of age, the palm width is more than 2 SD below the mean; for children from 4 to 16 years of age the palm width is below the 5th centile; or, the width of the palm appears disproportionately narrow for its length.|HPO|N|
C1857638|Patchy loss of myelin from nerve fibers in the central nervous system.|HPO|N|
C1857640|A reduction in the speed at which electrical signals propagate along the axon of a neuron.|HPO|N|
C1857641|Severely slow or limited growth after birth, being four standard deviations or more below age- and sex-related norms.|HPO|N|
C1857644|Mottling (spots or blotches with different shades) of the retinal pigment epithelium, i.e., localized or generalized fundal pigment granularity associated with processes at the level of the retinal pigment epithelium.|HPO|N|
C1857651|Sclerosis of the epiphyses of the phalanges of the fingers, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.|HPO|N|
C1857652|A reduction in the level of thymic horomone.|HPO|N|
C1857657|A reduced amount of fat tissue in the lowest layer of the integument. This feature can be appreciated by a reduced skinfold thickness.|HPO|N|
C1857662|COACH syndrome is an autosomal recessive disorder characterized by impaired intellectual development, ataxia due to cerebellar hypoplasia, and hepatic fibrosis. Other features, such as coloboma and renal cysts, may be variable. COACH syndrome is considered by some to be a subtype of Joubert syndrome (JBTS; see 213300) with congenital hepatic fibrosis. Identification of liver disease in these patients is critical because some may develop complications such as portal hypertension with fatal variceal bleeding (Brancati et al., 2009; Doherty et al., 2010).
Genetic Heterogeneity of COACH Syndrome
Also see COACH syndrome-2 (COACH2; 619111), caused by mutation in in the CC2D2A gene (612013), and COACH syndrome-3 (COACH3; 619113), caused by mutation in the RPGRIP1L gene (610937).
Most cases of COACH syndrome are caused by mutation in the TMEM67 gene.|OMIM|N|
C1857663|Yunis-Varon syndrome (YVS) is a severe autosomal recessive disorder characterized by skeletal defects, including cleidocranial dysplasia and digital anomalies, and severe neurologic involvement with neuronal loss. Enlarged cytoplasmic vacuoles are found in neurons, muscle, and cartilage. The disorder is usually lethal in infancy (summary by Campeau et al., 2013).|OMIM|N|
C1857665|Absence of the clavicles as a developmental defect.|HPO|N|
C1857679|Inclination of the anterior surface of the forehead from the vertical more than two standard deviations above the mean (objective); or apparently excessive posterior sloping of the forehead in a lateral view.|HPO|N|
C1857682|A rare mitochondrial disorder due to a defect in mitochondrial protein synthesis with characteristics of neonatal onset of severe metabolic acidosis and respiratory distress, persistent lactic acidosis with episodes of metabolic crises, developmental regression, microcephaly, abnormal gaze fixation and pursuit, axial hypotonia with limb spasticity and reduced spontaneous movements. Neuroimaging studies reveal polymicrogyria, white matter abnormalities and multiple cystic brain lesions, including basal ganglia, and cerebral atrophy. Decreased activity of complex I and IV have been determined in muscle biopsy.|SNOMEDCT_US|N|
C1857688|Hereditary hemorrhagic telangiectasia (HHT) is characterized by the presence of multiple arteriovenous malformations (AVMs) that lack intervening capillaries and result in direct connections between arteries and veins. The most common clinical manifestation is spontaneous and recurrent nosebleeds (epistaxis) beginning on average at age 12 years. Telangiectases (small AVMs) are characteristically found on the lips, tongue, buccal and gastrointestinal (GI) mucosa, face, and fingers. The appearance of telangiectases is generally later than epistaxis but may be during childhood. Large AVMs occur most often in the lungs, liver, or brain; complications from bleeding or shunting may be sudden and catastrophic. A minority of individuals with HHT have GI bleeding, which is rarely seen before age 50 years.|GeneReviews|N|
C1857690|Pulmonary arteriovenous malformation, a condition most commonly associated with hereditary hemorrhagic telangiectasia, is an abnormal communication between the pulmonary artery and pulmonary vein without an intervening capillary communication. HRCT images usually show a coarse spidery appearance of the peripheral vascular markings in the lungs. More specific findings are obtained in the pulmonary angiogram where the normally invisible capillary phase is replaced by irregular vascular channels bridging the peripheral branches of pulmonary arteries and veins.|HPO|N|
C1857692|Elongated and tortuous mesenteric veins, which comprise the inferior mesenteric vein and the superior mesenteric vein.|HPO|N|
C1857697|Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the lips.|HPO|N|
C1857699|The presence of small (ca. 0.5-1.0 mm) dilated blood vessels near the surface of the mucous membranes of the palate.|HPO|N|
C1857704|Any anomaly in the process by which myelin sheaths are formed and maintained around neurons.|HPO|N|
C1857710|A degree of wrinkling of the facial skin that is more than expected for the age of the individual, leading to a prematurely aged appearance.|HPO|N|
C1857719|Diamond-Blackfan anemia (DBA) is characterized by a profound normochromic and usually macrocytic anemia with normal leukocytes and platelets, congenital malformations in up to 50%, and growth deficiency in 30% of affected individuals. The hematologic complications occur in 90% of affected individuals during the first year of life. The phenotypic spectrum ranges from a mild form (e.g., mild anemia or no anemia with only subtle erythroid abnormalities, physical malformations without anemia) to a severe form of fetal anemia resulting in nonimmune hydrops fetalis. DBA is associated with an increased risk for acute myelogenous leukemia (AML), myelodysplastic syndrome (MDS), and solid tumors including osteogenic sarcoma.|GeneReviews|N|
C1857728|Hereditary angioedema is a disorder characterized by recurrent episodes of severe swelling (angioedema). The parts of the body that are most often affected by swelling are the limbs, face, intestinal tract, and airway. Minor trauma or stress may trigger an attack, but swelling often occurs without a known trigger. Episodes involving the intestinal tract cause severe abdominal pain, nausea, and vomiting. Swelling in the airway can restrict breathing and lead to life-threatening obstruction of the airway. About one-third of people with this condition develop a non-itchy rash called erythema marginatum during an attack.\n\nSymptoms of hereditary angioedema typically begin in childhood and worsen during puberty.  On average, untreated individuals have swelling episodes every 1 to 2 weeks, and most episodes last for about 3 to 4 days. The frequency and duration of attacks vary greatly among people with hereditary angioedema, even among people in the same family.\n\nHereditary angioedema is broadly divided into two types, which are distinguished by  levels of a protein called C1 inhibitor (C1-INH) in the blood. These types are known as hereditary angioedema due to C1-INH deficiency and hereditary angioedema with normal C1-INH. \n\nHereditary angioedema due to C1-INH deficiency is further divided into two types: type I occurs when  C1-INH  levels are low, and type II occurs when the C1-INH protein is not functioning correctly. \n\n\n\nThe different types of hereditary angioedema have similar signs and symptoms. |MedlinePlus Genetics|N|
C1857743|Leber congenital amaurosis-12 (LCA12) is characterized by congenital nystagmus, low vision, sluggish pupillary reflexes, absence of ocular pursuit from birth, early onset and long-lasting digitoocular signs of Franceschetti, and mild to moderate hyperopia. Photoaversion is usually present. Visual acuity, when measurable, is reduced to counting fingers, hand movements, or light perception (summary by Perrault et al., 2013).|OMIM|N|
C1857744|Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the PJVK gene.|MONDO|N|
C1857747|PLA2G6-associated neurodegeneration (PLAN) comprises a continuum of three phenotypes with overlapping clinical and radiologic features: Infantile neuroaxonal dystrophy (INAD). Atypical neuroaxonal dystrophy (atypical NAD). PLA2G6-related dystonia-parkinsonism. INAD usually begins between ages six months and three years with psychomotor regression or delay, hypotonia, and progressive spastic tetraparesis. Many affected children never learn to walk or lose the ability shortly after attaining it. Strabismus, nystagmus, and optic atrophy are common. Disease progression is rapid, resulting in severe spasticity, progressive cognitive decline, and visual impairment. Many affected children do not survive beyond their first decade. Atypical NAD shows more phenotypic variability than INAD. In general, onset is in early childhood but can be as late as the end of the second decade. The presenting signs may be gait instability, ataxia, or speech delay and autistic features, which are sometimes the only evidence of disease for a year or more. Strabismus, nystagmus, and optic atrophy are common. Neuropsychiatric disturbances including impulsivity, poor attention span, hyperactivity, and emotional lability are also common. The course is fairly stable during early childhood and resembles static encephalopathy but is followed by neurologic deterioration between ages seven and 12 years. PLA2G6-related dystonia-parkinsonism has a variable age of onset, but most individuals present in early adulthood with gait disturbance or neuropsychiatric changes. Affected individuals consistently develop dystonia and parkinsonism (which may be accompanied by rapid cognitive decline) in their late teens to early twenties. Dystonia is most common in the hands and feet but may be more generalized. The most common features of parkinsonism in these individuals are bradykinesia, resting tremor, rigidity, and postural instability.|GeneReviews|N|
C1857749|Rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death. Several risk factors such as smoking, hypertension, and excessive alcohol intake are associated with subarachnoid hemorrhage (summary by Krischek and Inoue, 2006).
For a discussion of genetic heterogeneity of intracranial berry aneurysm, see ANIB1 (105800).|OMIM|N|
C1857750|Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the DCDC2 gene.|MONDO|N|
C1857761|Alagille syndrome (ALGS) is a multisystem disorder with a wide spectrum of clinical variability; this variability is seen even among individuals from the same family. The major clinical manifestations of ALGS are bile duct paucity on liver biopsy, cholestasis, congenital cardiac defects (primarily involving the pulmonary arteries), butterfly vertebrae, ophthalmologic abnormalities (most commonly posterior embryotoxon), and characteristic facial features. Renal abnormalities, growth failure, developmental delays, splenomegaly, and vascular abnormalities may also occur.|GeneReviews|N|
C1857762|TSEN54 pontocerebellar hypoplasia (TSEN54-PCH) comprises three PCH phenotypes (PCH2, 4, and 5) that share characteristic neuroradiologic and neurologic findings. The three PCH phenotypes (which differ mainly in life expectancy) were considered to be distinct entities before their molecular basis was known. PCH2. Children usually succumb before age ten years (those with PCH4 and 5 usually succumb as neonates). Children with PCH2 have generalized clonus, uncoordinated sucking and swallowing, impaired cognitive development, lack of voluntary motor development, cortical blindness, and an increased risk for rhabdomyolysis during severe infections. Epilepsy is present in approximately 50%. PCH4. Neonates often have seizures, multiple joint contractures ("arthrogryposis"), generalized clonus, and central respiratory impairment. PCH5 resembles PCH4 and has been described in one family.|GeneReviews|N|
C1857768|Mutations in the MAF gene have been found to cause multiple types of cataract, which have been   described as cortical pulverulent, lamellar, nuclear, nuclear pulverulent, nuclear stellate, anterior polar, anterior subcapsular, posterior subcapsular, and cerulean. In some cases, the cataracts are of juvenile onset.
The preferred title of this entry was formerly 'Cataract, Pulverulent, Juvenile-Onset,' with an 'Included' title/symbol of 'Cataract, Congenital, Cerulean Type, 4; CCA4.'|OMIM|N|
C1857775|Neonatal diabetes mellitus with congenital hypothyroidism (NDH) syndrome is characterized by intrauterine growth retardation and onset of nonimmune diabetes mellitus within the first few weeks of life. Other features include renal parenchymal disease, primarily renal cystic dysplasia, and hepatic disease, with hepatitis in some patients and hepatic fibrosis and cirrhosis in others. Facial dysmorphism, when present, consistently involves low-set ears, epicanthal folds, flat nasal bridge, long philtrum, and thin upper lip. Most patients exhibit developmental delay (Dimitri et al., 2015).|OMIM|N|
C1857776|3-Methylglutaconic aciduria type V (MGCA5) is an autosomal recessive disorder characterized by the onset of dilated or noncompaction cardiomyopathy in infancy or early childhood. Many patients die of cardiac failure. Other features include microcytic anemia, growth retardation, mild ataxia, mild muscle weakness, genital anomalies in males, and increased urinary excretion of 3-methylglutaconic acid. Some patients may have optic atrophy or delayed psychomotor development (summary by Davey et al., 2006 and Ojala et al., 2012).
For a discussion of genetic heterogeneity of 3-methylglutaconic aciduria, see MGCA type I (250950).|OMIM|N|
C1857777|Arrhythmogenic right ventricular cardiomyopathy (ARVC) – previously referred to as arrhythmogenic right ventricular dysplasia (ARVD) – is characterized by progressive fibrofatty replacement of the myocardium that predisposes to ventricular tachycardia and sudden death in young individuals and athletes. It primarily affects the right ventricle, and it may also involve the left ventricle. The presentation of disease is highly variable even within families, and some affected individuals may not meet established clinical criteria. The mean age at diagnosis is 31 years (±13; range: 4-64 years).|GeneReviews|N|
C1857779|Senior-Loken syndrome-6 (SLSN6) is an autosomal recessive disorder characterized by the association of nephronophthisis resulting in end-stage renal disease in the second decade of life with retinal degeneration (Sayer et al., 2006).
For a phenotypic description and a discussion of genetic heterogeneity of Senior-Loken syndrome, see 266900.|OMIM|N|
C1857780|Classic Joubert syndrome (JS) is characterized by three primary findings: A distinctive cerebellar and brain stem malformation called the molar tooth sign (MTS). Hypotonia. Developmental delays. Often these findings are accompanied by episodic tachypnea or apnea and/or atypical eye movements. In general, the breathing abnormalities improve with age, truncal ataxia develops over time, and acquisition of gross motor milestones is delayed. Cognitive abilities are variable, ranging from severe intellectual disability to normal. Additional findings can include retinal dystrophy, renal disease, ocular colobomas, occipital encephalocele, hepatic fibrosis, polydactyly, oral hamartomas, and endocrine abnormalities. Both intra- and interfamilial variation are seen.|GeneReviews|N|
C1857781|Congenital diaphragmatic hernias are often classified by their position. A Bochdalek hernia is a defect in the side or back of the diaphragm. Between 80 and 90 percent of congenital diaphragmatic hernias are of this type. A Morgnani hernia is a defect involving the front part of the diaphragm. This type of congenital diaphragmatic hernia, which accounts for approximately 2 percent of cases, is less likely to cause severe symptoms at birth. Other types of congenital diaphragmatic hernia, such as those affecting the central region of the diaphragm, or those in which the diaphragm muscle is absent with only a thin membrane in its place, are rare.\n\nIn 5 to 10 percent of affected individuals, signs and symptoms of congenital diaphragmatic hernia appear later in life and may include breathing problems or abdominal pain from protrusion of the intestine into the chest cavity. In about 1 percent of cases, congenital diaphragmatic hernia has no symptoms; it may be detected incidentally when medical imaging is done for other reasons.\n\nCongenital diaphragmatic hernia is a defect in the diaphragm. The diaphragm, which is composed of muscle and other fibrous tissue, separates the organs in the abdomen from those in the chest. Abnormal development of the diaphragm before birth leads to defects ranging from a thinned area in the diaphragm to its complete absence. An absent or partially formed diaphragm results in an abnormal opening (hernia) that allows the stomach and intestines to move into the chest cavity and crowd the heart and lungs. This crowding can lead to underdevelopment of the lungs (pulmonary hypoplasia), potentially resulting in life-threatening breathing difficulties that are apparent from birth.|MedlinePlus Genetics|N|
C1857788|Partial or complete wasting (loss) of dentate nucleus.|HPO|N|
C1857795|Kyphoscoliosis is a 3-dimensional deformity of spinal growth characterized by curvature in the coronal plane (scoliosis) in conjunction with thoracic kyphosis in excess of the normal range in the sagittal plane (summary by Miller et al., 2006).|OMIM|N|
C1857798|Any severe combined immunodeficiency in which the cause of the disease is a mutation in the CD247 gene.|MONDO|N|
C1857800|Late-onset Fuchs endothelial corneal dystrophy (FECD) is a degenerative disorder affecting roughly 4% of the population older than 40 years. It is distinguished from other corneal disorders by the progressive formation of guttae, which are microscopic refractile excrescences of the Descemet membrane, a collagen-rich basal lamina secreted by the corneal endothelium. From onset, it usually takes 2 decades for FECD to impair endothelial cell function seriously, leading to stromal edema and impaired vision (Sundin et al., 2006).
For a discussion of genetic heterogeneity of Fuchs endothelial corneal dystrophy, see FECD1 (136800).|OMIM|N|
C1857802|Impaired intellectual development, truncal obesity, retinal dystrophy, and micropenis syndrome (MORMS) is an autosomal recessive disorder characterized by these findings (Hampshire et al., 2006).|OMIM|N|
C1857808|An inherited susceptibility or predisposition to developing type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 2q24.3.|MONDO|N|
C1857809|Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ADCY1 gene.|MONDO|N|
C1857811|Autosomal recessive deafness-49 (DFNB49) is characterized by prelingual profound sensorineural hearing loss at all frequencies (Riazuddin et al., 2006 and Chishti et al., 2008).|OMIM|N|
C1857813|Age-related macular degeneration is an eye disease that is a leading cause of vision loss in older people in developed countries. Subtle abnormalities indicating changes in vision may occur in a person's forties or fifties. Distorted vision and vision loss usually become noticeable in a person's sixties or seventies and tend to worsen over time.\n\nAge-related macular degeneration mainly affects central vision, which is needed for detailed tasks such as reading, driving, and recognizing faces. The vision loss in this condition results from a gradual deterioration of light-sensing cells in the tissue at the back of the eye that detects light and color (the retina). Specifically, age-related macular degeneration affects a small area near the center of the retina, called the macula, which is responsible for central vision. Side (peripheral) vision and night vision are generally not affected, but slow adjustment of vision to darkness (dark adaptation) and reduced dim light (scotopic) vision often occur in the early stages of the disease.\n\nIn 10 to 15 percent of affected individuals, the dry form progresses to the wet form of age-related macular degeneration. The wet form is characterized by the growth of abnormal, fragile blood vessels underneath the macula. These vessels leak blood and fluid, which damages the macula and makes central vision appear blurry and distorted. The wet form of age-related macular degeneration is associated with severe vision loss that can worsen rapidly.\n\nResearchers have described two major types of age-related macular degeneration, known as the dry form and the wet form. The dry form is much more common, accounting for 85 to 90 percent of all cases of age-related macular degeneration. It is characterized by a buildup of yellowish deposits called drusen beneath the retina and vision loss that worsens slowly over time. The most advanced stage of dry age-related macular degeneration is known as geographic atrophy, in which areas of the macula waste away (atrophy), resulting in severe vision loss. Dry age-related macular degeneration typically affects vision in both eyes, although vision loss often occurs in one eye before the other.|MedlinePlus Genetics|N|
C1857820|An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 12p13.2-p11.23.|MONDO|N|
C1857821|Leber congenital amaurosis (LCA) is a severe retinal dystrophy, causing blindness or severe visual impairment at birth or during the first months of life (summary by den Hollander et al., 2006).
For a general phenotypic description and a discussion of genetic heterogeneity of Leber congenital amaurosis, see LCA1 (204000).|OMIM|N|
C1857828|The electrocardiographic (ECG) QT interval, a measure of cardiac repolarization, is a genetically influenced quantitative trait with estimated heritability of approximately 30% (Arking et al., 2006). Very long or short QT intervals occur in a heterogeneous collection of mendelian disorders, the various forms of long QT syndrome (LQTS; see 192500) and short QT syndrome (SQTS; see 609620). These are usually due to rare, highly penetrant mutations in ion channel genes that are associated with increased risk of sudden cardiac death (SCD; see 115080). Familial clustering of SCD has been observed, but the vast majority of subjects who are at risk for SCD do not have mutations in the known genes for LQTS or SQTS.|OMIM|N|
C1857829|A rare autosomal dominant form of heart-hand syndrome, first described in members of a Slovenian family. The syndrome has characteristics of adult onset, progressive cardiac conduction disease, tachyarrhythmias that can lead to sudden death, dilated cardiomyopathy and brachydactyly, with the hands less severely affected than the feet. Muscle weakness and/or myopathic electromyographic findings have been observed in some cases.|SNOMEDCT_US|N|
C1857844|7q11.23 duplication syndrome is characterized by delayed motor, speech, and social skills in early childhood; neurologic abnormalities (hypotonia, adventitious movements, and abnormal gait and station); speech sound disorders including motor speech disorders (childhood apraxia of speech and/or dysarthria) and phonologic disorders; behavior problems including anxiety disorders (especially social anxiety disorder [social phobia]), selective mutism, attention-deficit/hyperactivity disorder, oppositional disorders, physical aggression, and autism spectrum disorder; and intellectual disability in some individuals. Distinctive facial features are common. Cardiovascular disease includes dilatation of the ascending aorta. Approximately 30% of individuals have one or more congenital anomalies.|GeneReviews|N|
C1857845|Celiac disease, also known as celiac sprue and gluten-sensitive enteropathy, is a multifactorial disorder of the small intestine that is influenced by both environmental and genetic factors. It is characterized by malabsorption resulting from inflammatory injury to the mucosa of the small intestine after the ingestion of wheat gluten or related rye and barley proteins (summary by Farrell and Kelly, 2002).
For additional phenotypic information and a discussion of genetic heterogeneity of celiac disease, see 212750.|OMIM|N|
C1857846|Celiac disease, also known as celiac sprue and gluten-sensitive enteropathy, is a multifactorial disorder of the small intestine that is influenced by both environmental and genetic factors. It is characterized by malabsorption resulting from inflammatory injury to the mucosa of the small intestine after the ingestion of wheat gluten or related rye and barley proteins (summary by Farrell and Kelly, 2002).
For additional information and a discussion of genetic heterogeneity of celiac disease, see 212750.|OMIM|N|
C1857847|Celiac disease, also known as celiac sprue and gluten-sensitive enteropathy, is a multifactorial disorder of the small intestine that is influenced by both environmental and genetic factors. It is characterized by malabsorption resulting from inflammatory injury to the mucosa of the small intestine after the ingestion of wheat gluten or related rye and barley proteins (summary by Farrell and Kelly, 2002).
For additional phenotypic information and a discussion of genetic heterogeneity of celiac disease, see 212750.|OMIM|N|
C1857853|Mutations in the CRYBB3 gene have been identified in families with cataract, described as congenital nuclear cataract with cortical riders, nuclear, posterior polar, anterior polar, and cortical.
The preferred title/symbol of this entry was formerly 'Cataract, Congenital Nuclear, Autosomal Recessive 2; CATCN2.'|OMIM|N|
C1857854|OBAIRH is an autosomal recessive endocrine disorder characterized by early-onset obesity due to severe hyperphagia, pigmentary abnormalities, mainly pale skin and red hair, and secondary hypocortisolism. In the neonatal period, affected individuals are prone to hypoglycemia, hyperbilirubinemia, and cholestasis that may result in death if not treated. The disorder results from mutation in the POMC gene, which encodes a preproprotein that is processed into a range of bioactive peptides, including alpha-melanocyte-stimulating hormone (MSH) and ACTH (summary by Kuhnen et al., 2016 and Clement et al., 2008).|OMIM|N|
C1857855|A complex form of hereditary spastic paraplegia characterised by a spastic paraplegia presenting in adolescence, associated with the additional manifestations of sensorial hearing impairment due to auditory neuropathy and persistent vomiting due to a hiatal or paraoesophageal hernia. The phenotype has been mapped to a locus on chromosome 1p31.1-p21.1.|SNOMEDCT_US|N|
C1857941|CYLD cutaneous syndrome (CCS) typically manifests in the second or third decade with the appearance of multiple skin tumors including cylindromas, spiradenomas, trichoepitheliomas, and rarely, membranous basal cell adenoma of the salivary gland. The first tumor typically develops at puberty and tumors progressively accumulate through adulthood. Females often have more tumors than males. Tumors typically arise on the scalp and face but can also arise on the torso and sun-protected sites, such as the genital and axillary skin. A minority of individuals develop salivary gland tumors. Rarely, pulmonary cylindromas can develop in large airways and compromise breathing. Although the tumors are usually benign, malignant transformation is recognized.|GeneReviews|N|
C1857949|Vertical bony ridge positioned in the midline of the forehead.|HPO|N|
C1857953|The presence of unusually deep creases (ridges/wrinkles) on the skin of sole of foot.|HPO|N|
C1857970|Hypobetalipoproteinemia (HBL) is defined as permanently low levels, below the 5th percentile of sex- and age-matched individuals in the population, of apolipoprotein B (apoB), total cholesterol, and low-density lipoprotein (LDL) cholesterol; the lipid profile in FHBL2 includes low HDL cholesterol as well. HBL can result from environmental factors such as a strict vegetarian diet, or can be secondary to certain diseases such as intestinal fat malabsorption, chronic pancreatitis, severe liver disease, malnutrition, or hyperthyroidism. Heritable primary causes of HBL include chylomicron retention disease (CMRD; 246700), abetalipoproteinemia (200100), and familial hypobetalipoproteinemia (FHBL) (summary by Martin-Campos et al., 2012).
For a discussion of genetic heterogeneity of familial hypobetalipoproteinemia, see FHBL1 (615558).|OMIM|N|
C1857977|Microhydranencephaly (MHAC) is a severe neurodevelopmental defect characterized by extreme microcephaly, profound motor and mental retardation, spasticity, and incomplete cerebral formation. Radiologic studies show gross dilation of the ventricles resulting from the absence of cerebral hemispheres or severe delay in their development, as well as hypoplasia of the corpus callosum, cerebellum, and brainstem (summary by Guven et al., 2012).|OMIM|N|
C1858025|Reduced ability to move the vertebral column with a resulting limitation of neck and trunk flexion.|HPO|N|
C1858028|Wolfram syndrome-2 (WFS2) is an autosomal recessive neurodegenerative disorder characterized by diabetes mellitus, high frequency sensorineural hearing loss, optic atrophy or neuropathy, and defective platelet aggregation resulting in peptic ulcer bleeding (summary by Mozzillo et al., 2014).
For a discussion of genetic heterogeneity of Wolfram syndrome, see WFS1 (222300).|OMIM|N|
C1858032|A rare skeletal disorder characterized clinically by multiple fractures, wormian bones of the skull, dentinogenesis imperfecta and facial dysmorphism (hypertelorism, periorbital fullness). Although the signs are very similar to osteogenesis imperfecta, characteristic cortical defects in the absence of osteopenia and collagen abnormalities are considered to be distinctive. There have been no further descriptions in the literature since 1999.|ORDO|N|
C1858033|Lack of symmetry between the left and right halves of the thorax.|HPO|N|
C1858042|Becker nevus (BN) is a cutaneous hamartoma affecting approximately 1 in 200 individuals that appears in childhood as a unilateral tan patch, and increases in thickness, pigmentation, and hair growth during adolescence. Histologically, epidermal acanthosis is accompanied by irregularly dispersed ectopic smooth muscle bundles and increased terminal hair follicles (summary by Cai et al., 2017). Becker nevus syndrome (BNS) is a phenotype characterized by the presence of a Becker nevus in association with unilateral hypoplasia of breast or other cutaneous, muscular, or skeletal defects (Happle and Koopman, 1997).|OMIM|N|
C1858043|Okamoto syndrome is characterised by congenital hydronephrosis, intellectual deficit, growth retardation, cleft palate, generalised hypotonia and a characteristic face. Cardiac anomalies have also been reported. To date, 6 cases have been reported.|SNOMEDCT_US|N|
C1858050|A schizophrenia that has material basis in a mutation of DISC1 on chromosome 1q42.2.|MONDO|N|
C1858051|North American Indian childhood cirrhosis is a rare liver disorder that occurs in children. The liver malfunction causes yellowing of the skin and whites of the eyes (jaundice) in affected infants. The disorder worsens with age, progressively damaging the liver and leading to chronic, irreversible liver disease (cirrhosis) in childhood or adolescence. Unless it is treated with liver transplantation, North American Indian childhood cirrhosis typically causes life-threatening complications including liver failure.|MedlinePlus Genetics|N|
C1858054|Bardet-Biedl syndrome-6 (BBS6) is an autosomal recessive disorder with the cardinal features of postaxial polydactyly, retinitis pigmentosa, kidney defects, obesity, and mental retardation (Slavotinek et al., 2000). Zaghloul and Katsanis (2009) estimated that mutations in the MKKS gene account for 5.8% of the total BBS mutational load.
For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (209900).|OMIM|N|
C1858080|An inherited retinal dystrophy with manifestation of severe congenital night blindness, progressive retinal dystrophy and nystagmus. Blindness is often complete by the age of 30 years.|SNOMEDCT_US|N|
C1858084|Stickler syndrome is a connective tissue disorder that can include ocular findings of myopia, cataract, and retinal detachment; hearing loss that is both conductive and sensorineural; midfacial underdevelopment and cleft palate (either alone or as part of the Robin sequence); and mild spondyloepiphyseal dysplasia and/or precocious arthritis. Variable phenotypic expression of Stickler syndrome occurs both within and among families; interfamilial variability is in part explained by locus and allelic heterogeneity.|GeneReviews|N|
C1858085|Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation.|HPO|N|
C1858091|The middle finger is more than 2 SD above the mean for newborns 27 to 41 weeks EGA or above the 97th centile for children from birth to 16 years of age AND the five digits retain their normal length proportions relative to each other (i.e., it is not the case that the middle finger is the only lengthened digit), or, Fingers that appear disproportionately long compared to the palm of the hand.|HPO|N|
C1858106|Spastic paraplegia-12 is an autosomal dominant neurodegenerative disorder characterized by lower limb spasticity and hyperreflexia, resulting in walking difficulties. Some patients may have urinary symptoms and distal sensory impairment. The age at onset is variable and can range from childhood to adulthood (summary by Montenegro et al., 2012).
For a general description and a discussion of genetic heterogeneity of autosomal dominant spastic paraplegia, see SPG3A (182600).|OMIM|N|
C1858108|People with MCPH usually have few or no other features associated with the condition. Some have a narrow, sloping forehead; mild seizures; problems with attention or behavior; or short stature compared to others in their family. The condition typically does not affect any other major organ systems or cause other health problems.\n\nMCPH causes intellectual disability, which is typically mild to moderate and does not become more severe with age. Most affected individuals have delayed speech and language skills. Motor skills, such as sitting, standing, and walking, may also be mildly delayed.\n\nInfants with MCPH have an unusually small head circumference compared to other infants of the same sex and age. Head circumference is the distance around the widest part of the head, measured by placing a measuring tape above the eyebrows and ears and around the back of the head. Affected infants' brain volume is also smaller than usual, although they usually do not have any major abnormalities in the structure of the brain. The head and brain grow throughout childhood and adolescence, but they continue to be much smaller than normal.\n\nAutosomal recessive primary microcephaly (often shortened to MCPH, which stands for "microcephaly primary hereditary") is a condition in which infants are born with a very small head and a small brain. The term "microcephaly" comes from the Greek words for "small head."|MedlinePlus Genetics|N|
C1858114|A rare Huntington disease-like syndrome with characteristics of childhood-onset progressive neurologic deterioration with pyramidal and extrapyramidal abnormalities, chorea, dystonia, ataxia, gait instability, spasticity, seizures, mutism, and (on brain MRI) progressive frontal cortical atrophy and bilateral caudate atrophy.|SNOMEDCT_US|N|
C1858118|A rare genetic neuromuscular disorder characterized by proximal and symmetrical muscle weakness (particularly of neck, sternomastoid, facial and diaphragm muscles), spinal rigidity, joint contractures (Achilles tendon, elbows, hands), generalized muscle hypertrophy and early respiratory failure (usually in the first decade of life). Patients typically present delayed motor milestones and grossly elevated serum creatine kinase levels, and with disease progression, forced expiratory abdominal squeeze and nocturnal hypoventilation.|SNOMEDCT_US|N|
C1858120|Generalized muscular hypotonia (abnormally low muscle tone).|HPO|N|
C1858127|Weakness of the limb-girdle muscles (also known as the pelvic and shoulder girdles), that is, lack of strength of the muscles around the shoulders and the pelvis.|HPO|N|
C1858133|Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of disorders of keratinization characterized primarily by abnormal skin scaling over the whole body. These disorders are limited to skin, with approximately two-thirds of patients presenting severe symptoms. The main skin phenotypes are lamellar ichthyosis (LI) and nonbullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur (summary by Fischer, 2009). Neither histopathologic findings nor ultrastructural features clearly distinguish between NCIE and LI. In addition, mutations in several genes have been shown to cause both lamellar and nonbullous ichthyosiform erythrodermal phenotypes (Akiyama et al., 2003). At the First Ichthyosis Consensus Conference in Soreze in 2009, the term 'autosomal recessive congenital ichthyosis' (ARCI) was designated to encompass LI, NCIE, and harlequin ichthyosis (ARCI4B; 242500) (Oji et al., 2010).
NCIE is characterized by prominent erythroderma and fine white, superficial, semiadherent scales. Most patients present with collodion membrane at birth and have palmoplantar keratoderma, often with painful fissures, digital contractures, and loss of pulp volume. In half of the cases, a nail dystrophy including ridging, subungual hyperkeratosis, or hypoplasia has been described. Ectropion, eclabium, scalp involvement, and loss of eyebrows and lashes seem to be more frequent in NCIE than in lamellar ichthyosis (summary by Fischer et al., 2000). In LI, the scales are large, adherent, dark, and pigmented with no skin erythema. Overlapping phenotypes may depend on the age of the patient and the region of the body. The terminal differentiation of the epidermis is perturbed in both forms, leading to a reduced barrier function and defects of lipid composition in the stratum corneum (summary by Lefevre et al., 2006).
In later life, the skin in ARCI may have scales that cover the entire body surface, including the flexural folds, and the scales are highly variable in size and color. Erythema may be very mild and almost invisible. Some affected persons exhibit scarring alopecia, and many have secondary anhidrosis (summary by Eckl et al., 2005).
For a general phenotypic description and discussion of genetic heterogeneity of autosomal recessive congenital ichthyosis, see ARCI1 (242300).|OMIM|N|
C1858154|Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the DES gene.|MONDO|N|
C1858160|Craniosynostosis is a primary abnormality of skull growth involving premature fusion of the cranial sutures such that the growth velocity of the skull often cannot match that of the developing brain. This produces skull deformity and, in some cases, raises intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability (summary by Fitzpatrick, 2013).
For a discussion of genetic heterogeneity of craniosynostosis, see CRS1 (123100).|OMIM|N|
C1858172|Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the ACTG1 gene.|MONDO|N|
C1858266|Bare lymphocyte syndrome type I (BLS I) is an inherited disorder of the immune system (primary immunodeficiency). Immunodeficiencies are conditions in which the immune system is not able to protect the body effectively from foreign invaders such as bacteria or viruses. Starting in childhood, most people with BLS I develop recurrent bacterial infections in the lungs and airways (respiratory tract). These recurrent infections can lead to a condition called bronchiectasis, which damages the passages leading from the windpipe to the lungs (bronchi) and can cause breathing problems.\n\nMany people with BLS I also have open sores (ulcers) on their skin, usually on the face, arms, and legs. These ulcers typically develop in adolescence or young adulthood. Some people with BLS I have no symptoms of the condition.\n\nPeople with BLS I have a shortage of specialized immune proteins called major histocompatibility complex (MHC) class I proteins on cells, including infection-fighting white blood cells (lymphocytes), which is where the condition got its name.|MedlinePlus Genetics|N|
C1858278|Autosomal recessive Charcot-Marie-Tooth disease type 4B2 (CMT4B2) is a demyelinating hereditary motor and sensory neuropathy characterized by abnormal folding of myelin sheaths.
CMT4B1 (601382) is a clinically similar disorder caused by mutation in the MTMR2 gene (603557) on 11q22.
For a phenotypic description and a discussion of genetic heterogeneity of autosomal recessive demyelinating CMT, see CMT4A (214400).|OMIM|N|
C1858285|A loss of myelinated nerve fibers in the peripheral nervous system (in general, this finding can be observed on nerve biopsy).|HPO|N|
C1858301|Leber congenital amaurosis, also known as LCA, is an eye disorder that is present from birth (congenital). This condition primarily affects the retina, which is the specialized tissue at the back of the eye that detects light and color. People with this disorder typically have severe visual impairment beginning at birth or shortly afterward. The visual impairment tends to be severe and may worsen over time.\n\nLeber congenital amaurosis is also associated with other vision problems, including an increased sensitivity to light (photophobia), involuntary movements of the eyes (nystagmus), and extreme farsightedness (hyperopia). The pupils, which usually expand and contract in response to the amount of light entering the eye, do not react normally to light. Instead, they expand and contract more slowly than normal, or they may not respond to light at all.\n\nA specific behavior called Franceschetti's oculo-digital sign is characteristic of Leber congenital amaurosis. This sign consists of affected individuals poking, pressing, and rubbing their eyes with a knuckle or finger. Poking their eyes often results in the sensation of flashes of light called phosphenes. Researchers suspect that this behavior may contribute to deep-set eyes in affected children.\n\nAt least 20 genetic types of Leber congenital amaurosis have been described. The types are distinguished by their genetic cause, patterns of vision loss, and related eye abnormalities.\n\nIn very rare cases, delayed development and intellectual disability have been reported in people with the features of Leber congenital amaurosis. Because of the visual loss, affected children may become isolated. Providing children with opportunities to play, hear, touch, understand and other early educational interventions may prevent developmental delays in children with Leber congenital amaurosis.|MedlinePlus Genetics|N|
C1858302|Ectodermal dysplasia/skin fragility syndrome (EDSFS) is an autosomal recessive genodermatosis characterized by widespread skin fragility, alopecia, nail dystrophy, and focal keratoderma with painful fissures. Hypohidrosis and cheilitis are sometimes present (summary by Ersoy-Evans et al., 2006).|OMIM|N|
C1858303|An inflammatory bowel disease that has material basis in variation in the chromosome region 6p21.3.|MONDO|N|
C1858308|Familial combined hyperlipidemia (FCHL) is characterized by fluctuations in serum lipid concentrations and may present as mixed hyperlipidemia, isolated hypercholesterolemia, hypertriglyceridemia, or as a normal serum lipid profile in combination with abnormally elevated levels of apolipoprotein B (APOB; 107730). Patients with FCHL are at increased risk of cardiovascular disease and mortality and have a high frequency of comorbidity with other metabolic conditions such as type 2 diabetes, nonalcoholic fatty liver disease, steatohepatitis, and the metabolic syndrome (summary by Bello-Chavolla et al., 2018).
For a phenotypic description and a discussion of genetic heterogeneity of familial combined hyperlipidemia, see 144250.|OMIM|N|
C1858312|A reduced count of megakaryocytes.|HPO|N|
C1858328|Congenital bile acid synthesis defect type 4 (BAS defect type 4) is an anomaly of bile acid synthesis (see this term) characterized by mild cholestatic liver disease, fat malabsorption and/or neurological disease.|ORDO|N|
C1858338|Okinawa-type hereditary motor and sensory neuropathy (HMSNO) is an autosomal dominant neurodegenerative disorder characterized by young adult onset of proximal or distal muscle weakness and atrophy, muscle cramps, and fasciculations, with later onset of distal sensory impairment. The disorder is slowly progressive and clinically resembles amyotrophic lateral sclerosis (ALS; see 105400) (summary by Ishiura et al., 2012).|OMIM|N|
C1858351|Spinocerebellar ataxia type 11 (SCA11) is characterized by progressive cerebellar ataxia and abnormal eye signs (jerky pursuit, horizontal and vertical nystagmus). Pyramidal features are seen on occasion. Peripheral neuropathy and dystonia are rare. Six families have been reported to date, one each from the UK, Pakistan, France, Germany, Denmark, and China. Age of onset ranged from early childhood to the mid-40s. Life span is thought to be normal.|GeneReviews|N|
C1858353|A rare genetic autosomal recessive axonal hereditary motor and sensory neuropathy disease with characteristics of prenatal onset of a severe sensorimotor axonal polyneuropathy reflected by reduced fetal movement and polyhydramnios. The disease manifests at birth with respiratory failure requiring mechanical ventilation, profound muscular hypotonia, rapidly progressing distal muscle weakness and absent deep tendon reflexes in the absence of contractures leading to death before 8 months of age. Neuropathological findings show severe loss of large and medium sized myelinated fibres without signs of demyelination.|SNOMEDCT_US|N|
C1858361|A rare pleiotropic auto-inflammatory disorder of childhood, primarily affecting the joints and skin. The first affected family contained ten affected members from three generations and manifested variable expression of a pauciarticular, nonaxial, arthritis that began in childhood; pyoderma gangrenosum; and severe cystic acne in adolescence and beyond. Recurrent sterile arthritis usually occurs after minor trauma, but can also occur spontaneously. PAPA syndrome is a self-limiting disease, but it can lead to severe joint destruction. The gene responsible for the syndrome is the proline-serine-threonine phosphatase interacting protein 1 (PSTPIP1).|SNOMEDCT_US|N|
C1858378|Arrhythmogenic right ventricular cardiomyopathy (ARVC) – previously referred to as arrhythmogenic right ventricular dysplasia (ARVD) – is characterized by progressive fibrofatty replacement of the myocardium that predisposes to ventricular tachycardia and sudden death in young individuals and athletes. It primarily affects the right ventricle, and it may also involve the left ventricle. The presentation of disease is highly variable even within families, and some affected individuals may not meet established clinical criteria. The mean age at diagnosis is 31 years (±13; range: 4-64 years).|GeneReviews|N|
C1858379|Arrhythmogenic right ventricular cardiomyopathy (ARVC) – previously referred to as arrhythmogenic right ventricular dysplasia (ARVD) – is characterized by progressive fibrofatty replacement of the myocardium that predisposes to ventricular tachycardia and sudden death in young individuals and athletes. It primarily affects the right ventricle, and it may also involve the left ventricle. The presentation of disease is highly variable even within families, and some affected individuals may not meet established clinical criteria. The mean age at diagnosis is 31 years (±13; range: 4-64 years).|GeneReviews|N|
C1858380|Any hereditary nonpolyposis colon cancer in which the cause of the disease is a mutation in the MLH3 gene.|MONDO|N|
C1858386|Autosomal recessive childhood-onset severe retinal dystrophy is a heterogeneous group of disorders affecting rod and cone photoreceptors simultaneously. The most severe cases are termed Leber congenital amaurosis (LCA), whereas the less aggressive forms are usually considered juvenile retinitis pigmentosa (Gu et al., 1997). Various intermediate phenotypes between LCA and retinitis pigmentosa are known and are sometimes described as 'early-onset severe rod-cone dystrophy' or 'early-onset retinal degeneration' (Booij et al., 2005).
For a general phenotypic description and a discussion of genetic heterogeneity of Leber congenital amaurosis, see LCA1 (204000); for retinitis pigmentosa, see 268000; for cone-rod dystrophy, see 120970.|OMIM|N|
C1858391|An autosomal recessive condition caused by mutation(s) in the MRE11A gene, encoding double-strand break repair protein MRE11. It is characterized by progressive cerebellar degeneration resulting in ataxia and oculomotor apraxia.|MONDO|N|
C1858392|The nephronophthisis (NPH) phenotype is characterized by reduced renal concentrating ability, chronic tubulointerstitial nephritis, cystic renal disease, and progression to end-stage renal disease (ESRD) before age 30 years. Three age-based clinical subtypes are recognized: infantile, juvenile, and adolescent/adult. Infantile NPH can present in utero with oligohydramnios sequence (limb contractures, pulmonary hypoplasia, and facial dysmorphisms) or postnatally with renal manifestations that progress to ESRD before age 3 years. Juvenile NPH, the most prevalent subtype, typically presents with polydipsia and polyuria, growth retardation, chronic iron-resistant anemia, or other findings related to chronic kidney disease (CKD). Hypertension is typically absent due to salt wasting. ESRD develops at a median age of 13 years. Ultrasound findings are increased echogenicity, reduced corticomedullary differentiation, and renal cysts (in 50% of affected individuals). Histologic findings include tubulointerstitial fibrosis, thickened and disrupted tubular basement membrane, sporadic corticomedullary cysts, and normal or reduced kidney size. Adolescent/adult NPH is clinically similar to juvenile NPH, but ESRD develops at a median age of 19 years. Within a subtype, inter- and intrafamilial variability in rate of progression to ESRD is considerable. Approximately 80%-90% of individuals with the NPH phenotype have no extrarenal features (i.e., they have isolated NPH); ~10%-20% have extrarenal manifestations that constitute a recognizable syndrome (e.g., Joubert syndrome, Bardet-Biedl syndrome, Jeune syndrome and related skeletal disorders, Meckel-Gruber syndrome, Senior-Løken syndrome, Leber congenital amaurosis, COACH syndrome, and oculomotor apraxia, Cogan type).|GeneReviews|N|
C1858395|The presence of renal tubules with thick redundant basement membranes, or a reduction of greater than 50% in tubular diameter compared to surrounding non-atrophic tubules.|HPO|N|
C1858420|Patent ductus arteriosus - bicuspid aortic valve - hand anomalies syndrome is a very rare heart-hand syndrome (see this term) that is characterized by a variety of cardiovascular anomalies including patent arterial duct, bicuspid aortic valve and pseudocoarctation of the aorta in conjunction with hand anomalies such as brachydactyly and ulnar ray derivative i.e. fifth metacarpal hypoplasia. Transmission is most likely autosomal dominant.|ORDO|N|
C1858427|Limited mobility of the eye within its socket.|HPO|N|
C1858430|Death within the first 24 months of life.|HPO|N|
C1858452|The presence of an abnormally thick calvaria.|HPO|N|
C1858460|A designation that has some relationship to motherhood.|NCI|N|
C1858477|Familial focal epilepsy with variable foci-1 (FFEVF1) is an autosomal dominant form of epilepsy characterized by focal seizures arising from different cortical regions in different family members. Many patients have an aura and show automatisms during the seizures, whereas others may have nocturnal seizures. There is often secondary generalization. Some patients show abnormal interictal EEG, and some patients have intellectual disability or autism spectrum disorders. Seizure onset usually occurs in the first or second decades, although later onset has been reported, and there is phenotypic variability within families. Penetrance of the disorder is incomplete at about 70%. The phenotypic spectrum of FFEVF1 is wide, and may include nocturnal epilepsy, febrile seizures, and focal epilepsy with febrile seizures-plus (FEFS+) (summary by Klein et al., 2012; Liu et al., 2020). Detailed electrophysiologic, brain imaging, and/or histologic studies have indicated that some patients have subtle or clear evidence of focal cortical dysplasia (FCD), which may be associated with additional somatic mosaic loss-of-function DEPDC5 mutations in affected brain tissue (Baulac et al., 2015).
Reviews
Samanta (2022) provided a review of DEPDC5-related epilepsy, noting that there is a phenotypic spectrum, including autosomal dominant sleep-related hypermotor epilepsy (ADSHE), familial mesial temporal lobe epilepsy (FMTLE), autosomal dominant epilepsy with auditory features (ADEAF), febrile seizures and febrile seizures-plus (FEFS+), rolandic epilepsy, infantile spasms, and sudden unexpected death in epilepsy (SUDEP). The disorder results from enhanced activation of the mTOR (601231) signaling pathway.
Genetic Heterogeneity of Familial Focal Epilepsy with Variable Foci
See also FFEVF2 (617116), caused by mutation in the NPRL2 gene (607072) on chromosome 3p21; FFEVF3 (617118), caused by mutation in the NPRL3 gene (600928) on chromosome 16p13; and FFEVF4 (617935), caused by mutation in the SCN3A gene (182391) on chromosome 2q24.|OMIM|N|
C1858479|Spastic paraplegia 11 (SPG11) is characterized by progressive spasticity and weakness of the lower limbs frequently associated with the following: mild intellectual disability with learning difficulties in childhood and/or progressive cognitive decline; peripheral neuropathy; pseudobulbar involvement; and increased reflexes in the upper limbs. Less frequent findings include: cerebellar signs (ataxia, nystagmus, saccadic pursuit); retinal degeneration; pes cavus; scoliosis; and parkinsonism with characteristic brain MRI features that include thinning of the corpus callosum. Onset occurs mainly during infancy or adolescence (range: age 1-31 years) and in rare cases as late as age 60 years. Most affected individuals become wheelchair bound one or two decades after disease onset.|GeneReviews|N|
C1858493|Any febrile seizures, familial in which the cause of the disease is a mutation in the ADGRV1 gene.|MONDO|N|
C1858496|A very rare circadian rhythm sleep disorder with main features of very early sleep onset and offset possibly resulting in emotional and physical disruptions.|SNOMEDCT_US|N|
C1858501|Rare disease with manifestations of action tremor associated with relatively mild cerebellar ataxia. Associated pyramidal and extrapyramidal signs and dementia have been reported. Prevalence is unknown. Approximately 40 families have been reported. The pathogenesis seems to be related to a toxic effect at the RNA level as it is caused by a CAG expansion at the 5'' end of the PPP2R2B gene on chromosome 5q31-5q32.|SNOMEDCT_US|N|
C1858506|Acne that occurs in an adult.|MONDO|N|
C1858516|Primary microcephaly (MCPH) is a clinical diagnosis made when an individual has a head circumference more than 3 standard deviations below the age- and sex-matched population mean and mental retardation, with no other associated malformations and with no apparent etiology. Most cases of primary microcephaly show an autosomal recessive mode of inheritance (summary by Woods et al., 2005).
For a general phenotypic description and a discussion of genetic heterogeneity of primary microcephaly, see MCPH1 (251200).|OMIM|N|
C1858517|Autosomal recessive distal hereditary motor neuronopathy-1 (HMNR1) is characterized by distal and proximal muscle weakness and diaphragmatic palsy that leads to respiratory distress. Without intervention, most infants with the severe form of the disease die before 2 years of age. Affected individuals present in infancy with inspiratory stridor, weak cry, recurrent bronchopneumonia, and swallowing difficulties. The disorder is caused by distal and progressive motor neuronopathy resulting in muscle weakness (summary by Perego et al., 2020).
Genetic Heterogeneity of Autosomal Recessive Distal Hereditary Motor Neuronopathy
See also HMNR2 (605726), caused by mutation in the SIGMAR1 gene (601978); HMNR3 (607088) (encompassing Harding HMN types III and IV), which maps to chromosome 11q13; HMNR4 (611067), caused by mutation in the PLEKHG5 gene (611101); HMNR5 (614881), caused by mutation in the DNAJB2 gene (604139); HMNR6 (620011), caused by mutation in the REEP1 gene (609139); HMNR7 (619216), caused by mutation in the VWA1 gene (611901); HMNR8 (618912), caused by mutation in the SORD gene (182500); HMNR9 (620402), caused by mutation in the COQ7 gene (601683); and HMRN10 (620542), caused by mutation in the VRK1 gene (602168).|OMIM|N|
C1858529|Interruption of the innervation of the diaphragm.|HPO|N|
C1858535|In WDR62 primary microcephaly (WDR62-MCPH), microcephaly (occipitofrontal circumference [OFC] = -2 SD) is usually present at birth, but in some instances becomes evident later in the first year of life. Growth is otherwise normal. Except for brain malformations in most affected individuals, no other congenital malformations are observed. Central nervous system involvement can include delayed motor development, mild-to-severe intellectual disability (ID), behavior problems, epilepsy, spasticity, and ataxia.|GeneReviews|N|
C1858538|Blepharophimosis-intellectual disability syndrome, Verloes type is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital microcephaly, severe epilepsy with hypsarrhythmia, adducted thumbs, abnormal genitalia, and normal thyroid function. Hypotonia, moderate to severe psychomotor delay, and characteristic facial dysmorphism (including round face with prominent cheeks, blepharophimosis, large, bulbous nose with wide alae nasi, posteriorly rotated ears with dysplastic conchae, narrow mouth, cleft palate, and mild micrognathia) are additional characteristic features.|ORDO|N|
C1858539|Superior margin of the scrotum superior to the base of the penis.|HPO|N|
C1858545|Hemangioma, a benign tumor of the vascular endothelial cells with small endothelial spaces, occurring in the face.|HPO|N|
C1858556|A genetic disorder of connective tissue caused by mutations in the FBN1 gene. Connective tissue is the material between the cells of the body that gives tissues form and strength. Symptoms include mitral valve prolapse, nearsightedness, borderline and non-progressive aortic enlargement, and skin and skeletal findings that overlap with those seen in Marfan syndrome. Treatment is based on the individuals symptoms.|MONDO|N|
C1858558|Juvenile idiopathic arthritis refers to a group of conditions involving joint inflammation (arthritis) that first appears before the age of 16. This condition is an autoimmune disorder, which means that the immune system malfunctions and attacks the body's organs and tissues, in this case the joints.\n\nResearchers have described seven types of juvenile idiopathic arthritis. The types are distinguished by their signs and symptoms, the number of joints affected, the results of laboratory tests, and the family history.\n\nSystemic juvenile idiopathic arthritis causes inflammation in one or more joints. A high daily fever that lasts at least 2 weeks either precedes or accompanies the arthritis. Individuals with systemic arthritis may also have a skin rash or enlargement of the lymph nodes (lymphadenopathy), liver (hepatomegaly), or spleen (splenomegaly).\n\nOligoarticular juvenile idiopathic arthritis (also known as oligoarthritis) is marked by the occurrence of arthritis in four or fewer joints in the first 6 months of the disease. It is divided into two subtypes depending on the course of disease. If the arthritis is confined to four or fewer joints after 6 months, then the condition is classified as persistent oligoarthritis. If more than four joints are affected after 6 months, this condition is classified as extended oligoarthritis. Individuals with oligoarthritis are at increased risk of developing  inflammation of the eye (uveitis).\n\nRheumatoid factor positive polyarticular juvenile idiopathic arthritis (also known as polyarthritis, rheumatoid factor positive) causes inflammation in five or more joints within the first 6 months of the disease. Individuals with this condition also have a positive blood test for proteins called rheumatoid factors. This type of arthritis closely resembles rheumatoid arthritis as seen in adults.\n\nRheumatoid factor negative polyarticular juvenile idiopathic arthritis (also known as polyarthritis, rheumatoid factor negative) is also characterized by arthritis  in five or more joints within the first 6 months of the disease. Individuals with this type, however, test negative for rheumatoid factor in the blood.\n\nPsoriatic juvenile idiopathic arthritis involves arthritis that usually occurs in combination with a skin disorder called psoriasis. Psoriasis is a condition characterized by patches of red, irritated skin that are often covered by flaky white scales. Some affected individuals develop psoriasis before arthritis while others first develop arthritis. Other features of psoriatic arthritis include abnormalities of the fingers and nails or eye problems.\n\nEnthesitis-related juvenile idiopathic arthritis is characterized by tenderness where the bone meets a tendon, ligament, or other connective tissue. The most commonly affected places are the hips, knees, and feet. This tenderness, known as enthesitis, accompanies the joint inflammation of arthritis. Enthesitis-related arthritis may also involve inflammation in parts of the body other than the joints.\n\nThe last type of juvenile idiopathic arthritis is called undifferentiated arthritis. This classification is given to affected individuals who do not fit into any of the above types or who fulfill the criteria for more than one type of juvenile idiopathic arthritis.|MedlinePlus Genetics|N|
C1858562|The TP63-related disorders comprise six overlapping phenotypes: Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome (which includes Rapp-Hodgkin syndrome). Acro-dermo-ungual-lacrimal-tooth (ADULT) syndrome. Ectrodactyly, ectodermal dysplasia, cleft lip/palate syndrome 3 (EEC3). Limb-mammary syndrome. Split-hand/foot malformation type 4 (SHFM4). Isolated cleft lip/cleft palate (orofacial cleft 8). Individuals typically have varying combinations of ectodermal dysplasia (hypohidrosis, nail dysplasia, sparse hair, tooth abnormalities), cleft lip/palate, split-hand/foot malformation/syndactyly, lacrimal duct obstruction, hypopigmentation, hypoplastic breasts and/or nipples, and hypospadias. Findings associated with a single phenotype include ankyloblepharon filiforme adnatum (tissue strands that completely or partially fuse the upper and lower eyelids), skin erosions especially on the scalp associated with areas of scarring, and alopecia, trismus, and excessive freckling.|GeneReviews|N|
C1858565|A duplication of the collecting system of the kidney, defined as a kidney with two (instead of, normally, one) pyelocaliceal systems. The pyelocaliceal system is comprised of the renal pelvis and calices. The duplicated renal collecting system can be associated with a single ureter or with double ureters. In the latter case, the two ureters empty separately into the bladder or fuse to form a single ureteral orifice.|HPO|N|
C1858567|An abnormality of the lacrimal duct, a duct that drain tears from the conjunctiva, via the lacrimal puncta, into the lacrimal sac.|HPO|N|
C1858570|A human skin color characterized by low levels of eumelanin.|NCI|N|
C1858573|Reduced number or density of pubic hair.|HPO|N|
C1858574|Reduced number or density of axillary hair.|HPO|N|
C1858580|More than a quarter of the human population is affected by soil-transmitted helminthes, which impair nutrition and the immune response to widespread pandemics, such as acquired immunodeficiency syndrome (see 609423) and tuberculosis (see 607948). The roundworm Ascaris lumbricoides, the most common human parasite of the gastrointestinal tract, causes ascariasis, which has a worldwide distribution with highest prevalence in tropical and subtropical regions and in areas with inadequate sanitation. Ascariasis is triggered by ingestion of parasite eggs. During its life cycle, Ascaris threatens human health with nonspecific abdominal symptoms, intestinal obstruction and perforation, biliary colic, gallstone formation, liver abscesses, pancreatitis, and pulmonary eosinophilia (Sanglas et al., 2009).|OMIM|N|
C1858586|Anemia not associated with symptoms of fatigue, headaches, palpitations, or shortness of breath. In asymptomatic anemia the hematocrit levels usually range from 32 to 35%.|NCI|N|
C1858591|A dilated cardiomyopathy that has material basis in variation in the chromosome region 2q14-q22.|MONDO|N|
C1858592|A rare non-hereditary condition characterised by gastrointestinal stromal tumours (GIST), pulmonary chondromas and extraadrenal paragangliomas. Less than 100 cases have been reported worldwide. The disease primarily affects young women (mean age of onset 20 years). Most patients initially present with two of the three tumours (incomplete Carney''s triad). The main symptoms at presentation are gastrointestinal bleeding, epigastric pain, anaemia and palpable abdominal mass. These symptoms are related to the GIST, which occur in 99% of cases. Pulmonary chondromas occur in approximately 80% of cases. Secreting paragangliomas (typically extraadrenal and most often mediastinal) occur in approximately 50% of patients. The aetiology is not completely understood. Impaired succinate dehydrogenase (SDH) function resulting from chromosomal losses (but not mutations) has been detected in some patients with Carney''s triad.|SNOMEDCT_US|N|
C1858593|Limb-girdle muscular dystrophies are characterized clinically by predominantly proximal muscle weakness of variable severity and dystrophic changes on muscle biopsy. LGMDR4 is in general a severe form of the disorder, with some patients developing symptoms before 8 years of age and losing the ability to ambulate in their second decade. Some patients have a milder course, with weakness evident in the teenage years and loss of walking ability in their fourth decade (summary by Lim et al., 1995 and Bonnemann et al., 1996).
For a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive limb-girdle muscular dystrophy, see LGMDR1 (253600).|OMIM|N|
C1858656|Short stature due to partial GHR deficiency is a rare, genetic, endocrine disease characterized by idiopathic short stature due to diminished GHR function (decreased ligand binding or reduced availability of receptor), thus resulting in partial insensitivity to growth hormone.|ORDO|N|
C1858664|TFR2-related hereditary hemochromatosis (TFR2-HHC) is characterized by increased intestinal iron absorption resulting in iron accumulation in the liver, heart, pancreas, and endocrine organs. Age of onset is earlier than in HFE-HHC. The majority of individuals present with signs and symptoms of iron overload in the third decade (e.g., weakness, fatigue, abdominal pain, hepatomegaly, arthritis, arthralgia, progressive increase in skin pigmentation). Others present as young adults with nonspecific symptoms and abnormal serum iron studies or as adults with abnormal serum iron studies and signs of organ involvement including cirrhosis, diabetes mellitus, and arthropathy.|GeneReviews|N|
C1858672|Generalized epilepsy with febrile seizures plus type 1 (GEFSP1) is an autosomal dominant neurologic disorder characterized by onset of seizures associated with fever in infancy or early childhood. There is wide phenotypic variability, even within families. In contrast to classic febrile seizures (see, e.g., FEB1, 121210), which affect approximately 3% of children under 6 years of age and typically spontaneously remit by age 6 years, patients with GEFSP1 either have febrile seizures extending beyond age 6 years or develop epilepsy with afebrile seizures. Other seizure types include absence seizures, partial seizures, myoclonic seizures, and atonic seizures. Some patients may have developmental delay after the onset of seizures (summary by Wallace et al., 1998 and Singh et al., 1999).
Deprez et al. (2009) reviewed the genetics of epilepsy syndromes starting in the first year of life, and included a diagnostic algorithm.
Genetic Heterogeneity of GEFS+
GEFS+ is a genetically heterogeneous disorder. See also GEFS+2 (604403), caused by mutation in the SCN1A gene (182389) on chromosome 2q24; GEFS+3 (see 607681), caused by mutation in the GABRG2 gene (137164) on chromosome 5q34; GEFS+5 (613060), associated with variation in the GABRD (137163) gene on chromosome 1p36; GEFS+9 (616172), caused by mutation in the STX1B gene (601485) on chromosome 16p11; GEFS+10 (618482), caused by mutation in the HCN1 gene (602780) on chromosome 5p12; GEFS+11 (602477), caused by mutation in the HCN2 gene (602781) on chromosome 19p13; and GEFS+12 (620755), caused by mutation in the SLC32A1 gene (616440) on chromosome 20q11.
Several putative loci have also been identified; see GEFS+4 (609800), mapped to chromosome 2p24; GEFS+6 (612279), mapped to chromosome 8p23-p21; GEFS+7 (613863), mapped to chromosome 2q24; and GEFS+8 (613828), mapped to chromosome 6q16.3-q22.31.|OMIM|N|
C1858673|SCN1A seizure disorders encompass a spectrum that ranges from simple febrile seizures and generalized epilepsy with febrile seizures plus (GEFS+) at the mild end to Dravet syndrome and intractable childhood epilepsy with generalized tonic-clonic seizures (ICE-GTC) at the severe end. Phenotypes with intractable seizures including Dravet syndrome are often associated with cognitive decline. Less commonly observed phenotypes include myoclonic astatic epilepsy (MAE), Lennox-Gastaut syndrome, infantile spasms, epilepsy with focal seizures, and vaccine-related encephalopathy and seizures. The phenotype of SCN1A seizure disorders can vary even within the same family.|GeneReviews|N|
C1858674|Mutations in the GABRG2 gene cause a spectrum of seizure disorders, ranging from early-onset isolated febrile seizures to generalized epilepsy with febrile seizures plus, type 3, which represents a more severe phenotype. Patients with isolated febrile seizures usually have onset in the first year of life and show spontaneous remission by age 6 years, whereas patients with GEFS+ continue to have various types of febrile and afebrile seizures later in life (summary by Singh et al., 1999). Mutation in the GABRG2 gene can also cause childhood absence epilepsy (ECA2; 607681).
Mutations in certain genes can cause a phenotypic spectrum of overlap between the isolated febrile phenotype and the GEFS+ phenotype. For a general phenotypic description and a discussion of genetic heterogeneity of GEFS+, see 604233.
For a phenotypic description and a discussion of genetic heterogeneity of familial febrile seizures, see 121210.|OMIM|N|
C1858677|Autosomal recessive childhood-onset severe retinal dystrophy is a heterogeneous group of disorders affecting rod and cone photoreceptors simultaneously. The most severe cases are termed Leber congenital amaurosis, whereas the less aggressive forms are usually considered retinitis pigmentosa (Gu et al., 1997). SPATA7-associated retinopathy shows a variable age at onset, ranging from infancy to adulthood, as well as phenotypic variability, including intrafamilial differences (Wang et al., 2009; Avila-Fernandez et al., 2011; Feldhaus et al., 2018; Sengillo et al., 2018).
Mackay et al. (2011) concluded that SPATA7 retinopathy is an infantile-onset severe cone-rod dystrophy with early extensive peripheral retinal atrophy but with variable foveal involvement.
For a general phenotypic description and a discussion of genetic heterogeneity of Leber congenital amaurosis, see LCA1 (204000); for retinitis pigmentosa, see 268000.
Reviews
Kannabiran (2020) reviewed reported SPATA7 mutations and the associated phenotypes. The author noted that there were no clear-cut correlations between genotype and phenotype, and that phenotypic heterogeneity had been observed among patients with the same mutation. Clinical variability was also often seen in patients with SPATA7 mutations, with some phenotypes resembling cone-rod dystrophy or choroideremia.|OMIM|N|
C1858679|Mutations in the CRYAA gene have been found to cause multiple types of cataract, which have been described as nuclear, zonular central nuclear, laminar, lamellar, anterior polar, posterior polar, cortical, embryonal, anterior subcapsular, fan-shaped, and total. Cataract associated with microcornea, sometimes called the cataract-microcornea syndrome, is also caused by mutation in the CRYAA gene. Both autosomal dominant and autosomal recessive modes of inheritance have been reported. The symbol CATC1 was formerly used for the autosomal recessive form of cataract caused by mutation in the CRYAA gene.|OMIM|N|
C1858680|Familial encephalopathy with neuroserpin inclusion bodies (FENIB) is an autosomal dominant disorder characterized by progressive epilepsy and dementia. Onset of symptoms ranges from the second to fifth decades of life. Severity is variable (summary by Molinari et al., 2003).|OMIM|N|
C1858695|Chudley-McCullough syndrome is an autosomal recessive neurologic disorder characterized by early-onset sensorineural deafness and specific brain anomalies on MRI, including hypoplasia of the corpus callosum, enlarged cysterna magna with mild focal cerebellar dysplasia, and nodular heterotopia. Some patients have hydrocephalus. Psychomotor development is normal (summary by Alrashdi et al., 2011).|OMIM|N|
C1858709|Hepatointestinal schistosomiasis is caused by 2 species of helminths: Schistosoma japonicum, which is prevalent in Asia, and S. mansoni, which is prevalent in Africa and South America. Both worms develop in the host mesenteric system and lay eggs that trigger inflammation in the hepatic periportal space in which they are trapped. Worms live for years, and chronic liver inflammation and significant tissue destruction are therefore common in infected individuals. Tissue repair begins with deposition of extracellular matrix proteins (ECMPs) in the damaged tissues, which are later replaced by normal hepatocytes. In some individuals, ECMPs accumulate in the periportal space, forming fibrosis deposits that reduce blood flow and cause varicose veins. These individuals may die from the subsequent effects of hepatic fibrosis. About 5 to 10% of the 350 million infected individuals develop severe hepatic fibrosis. Development of hepatic fibrosis in schistosome-infected individuals is influenced by a locus on chromosome 6q23, designated SM2, which contains 2 major candidate genes: IFNGR1 (107470), which encodes a chain of the receptor for interferon-gamma (IFNG; 147570), and CTGF (121009), which encodes a profibrogenic molecule produced by hepatocytes (summary by Dessein et al., 2009).|OMIM|N|
C1858712|Spastic paraplegia-10 (SPG10) is an autosomal dominant neurologic disorder with variable manifestations. Some patients have onset of a 'pure' spastic paraplegia, with lower limb spasticity, hyperreflexia, extensor plantar responses, and variable involvement of the upper limbs beginning in childhood or young adulthood. Some patients show distal sensory impairment, which can be part of the 'pure' phenotype. However, some patients also show an axonal sensorimotor peripheral neuropathy with distal sensory impairment and distal muscle atrophy reminiscent of Charcot-Marie-Tooth disease type 2 (see, e.g., CMT2A, 118210). Rarely, patients with KIF5A mutations may have additional neurologic features, including parkinsonism or cognitive decline, consistent with a 'complicated' phenotype. Spastic paraplegia and peripheral neuropathy in isolation may represent extreme ends of the phenotypic spectrum of KIF5A mutations (summary by Goizet et al., 2009 and Crimella et al., 2012).
For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant spastic paraplegia, see SPG3A (182600).|OMIM|N|
C1858723|Poikiloderma with neutropenia (PN) is characterized by an inflammatory eczematous rash (ages 6-12 months) followed by post-inflammatory poikiloderma (age >2 years) and chronic noncyclic neutropenia typically associated with recurrent sinopulmonary infections in the first two years of life and (often) bronchiectasis. There is increased risk for myelodysplastic syndrome and, rarely, acute myelogenous leukemia. Other ectodermal findings include nail dystrophy and palmar/plantar hyperkeratosis. Most affected individuals also have reactive airway disease and some have short stature, hypogonadotropic hypogonadism, midfacial retrusion, calcinosis cutis, and non-healing skin ulcers.|GeneReviews|N|
C1858725|Left ventricular noncompaction (LVNC) is characterized by numerous prominent trabeculations and deep intertrabecular recesses in hypertrophied and hypokinetic segments of the left ventricle (Sasse-Klaassen et al., 2004). The mechanistic basis is thought to be an intrauterine arrest of myocardial development with lack of compaction of the loose myocardial meshwork. LVNC may occur in isolation or in association with congenital heart disease. Distinctive morphologic features can be recognized on 2-dimensional echocardiography (Kurosaki et al., 1999). Noncompaction of the ventricular myocardium is sometimes referred to as spongy myocardium. Stollberger et al. (2002) commented that the term 'isolated LVNC,' meaning LVNC without coexisting cardiac abnormalities, is misleading, because additional cardiac abnormalities are found in nearly all patients with LVNC.
Genetic Heterogeneity of Left Ventricular Noncompaction
A locus for autosomal dominant left ventricular noncompaction has been identified on chromosome 11p15 (LVNC2; 609470).
LVNC3 (see 605906) is caused by mutation in the LDB3 gene (605906) on chromosome 10q23. LVNC4 (see 613424) is caused by mutation in the ACTC1 gene (102540) on chromosome 15q14. LVNC5 (see 613426) is caused by mutation in the MYH7 gene (160760) on chromosome 14q12. LVNC6 (see 601494) is caused by mutation in the TNNT2 gene (191045) on chromosome 1q32. LVNC7 (615092) is caused by mutation in the MIB1 gene (608677) on chromosome 18q11. LVNC8 (615373) is caused by mutation in the PRDM16 gene (605557) on chromosome 1p36. LVNC9 (see 611878) is caused by mutation in the TPM1 gene (191010) on chromosome 15q22. LVNC10 (615396) is caused by mutation in the MYBPC3 gene (600958) on chromosome 11p11.
LVNC can also occur as part of an X-linked disorder, Barth syndrome (302060), caused by mutation in the TAZ gene (300394) on chromosome Xq28.|OMIM|N|
C1858726|CTDP1-related congenital cataracts, facial dysmorphism, and neuropathy (CTDP1-CCFDN) is characterized by abnormalities of the eye (bilateral congenital cataracts, microcornea, microphthalmia, micropupils), mildly dysmorphic facial features apparent in late childhood, and a hypo-/demyelinating, symmetric, distal peripheral neuropathy. The neuropathy is predominantly motor at the onset and results in delays in early motor development, progressing to severe disability by the third decade of life. Secondary foot deformities and scoliosis are common. Sensory neuropathy develops after age ten years. Most affected individuals have a mild nonprogressive intellectual deficit and cerebellar involvement including ataxia, nystagmus, intention tremor, and dysmetria. All have short stature and most have subnormal weight. Adults have hypogonadotropic hypogonadism. Parainfectious rhabdomyolysis (profound muscle weakness, myoglobinuria, and excessively elevated serum concentration of creatine kinase usually following a viral infection) is a potentially life-threatening complication. To date all affected individuals and carriers identified have been from the Romani population.|GeneReviews|N|
C1858729|A type of decreased nerve conduction velocity that affects the motor neuron.|HPO|N|
C1858732|Prominence of the malar process of the maxilla and infraorbital area appreciated in profile and from in front of the face.|HPO|N|
C1858763|Dilated cardiomyopathy-1G (CMD1G) is an autosomal dominant disorder characterized by ventricular dilatation and systolic contractile dysfunction (Siu et al., 1999).
For a general phenotypic description and a discussion of genetic heterogeneity of dilated cardiomyopathy (CMD), see CMD1A (115200).|OMIM|N|
C1858805|Variant Vohwinkel syndrome is a rare genodermatosis characterized by hyperkeratosis of the palms and soles, with a honeycomb appearance; constricting bands encircling the digits of the hands and feet, which frequently lead to autoamputation of the fifth digits; starfish-shaped, salmon-colored hyperkeratotic lesions, or knuckle pads, on the dorsal surface of the hands; and ichthyosiform dermatosis. The pathognomonic histologic finding is markedly thickened stratum corneum, hypergranulosis, and particularly, hyperkeratosis with round nuclei retained in the stratum corneum. Unlike classic Vohwinkel syndrome, hearing loss is not a feature (summary by Maestrini et al., 1996).|OMIM|N|
C1858806|Cone-rod dystrophy-3 (CORD3) is an autosomal recessive, clinically heterogeneous retinal disorder with typical findings of reduced visual acuity, impairment of the central visual field, color vision deficits, and fundoscopic evidence of maculopathy, with no or few midperipheral retinal pigment deposits. Cone degeneration appears early in life with a central involvement of the retina, followed by a degeneration of rods several years later (summary by Klevering et al., 2002 and Ducroq et al., 2002). Both cone and rod a- and b-wave electroretinogram (ERG) amplitudes are reduced (Fishman et al., 2003).
For a general phenotypic description and a discussion of genetic heterogeneity of cone-rod dystrophy, see 120970.|OMIM|N|
C1858840|An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 11q25-qter.|MONDO|N|
C1858854|The classic phenotype of megalencephalic leukoencephalopathy with subcortical cysts (MLC) is characterized by early-onset macrocephaly, often in combination with mild gross motor developmental delay and seizures; gradual onset of ataxia, spasticity, and sometimes extrapyramidal findings; and usually late onset of mild mental deterioration. Macrocephaly, observed in virtually all individuals, may be present at birth but more frequently develops during the first year of life. The degree of macrocephaly is variable and can be as great as 4 to 6 SD above the mean in some individuals. After the first year of life, head growth rate normalizes and growth follows a line parallel to and usually several centimeters above the 98th centile. Initial mental and motor development is normal in most individuals. Walking is often unstable, followed by ataxia of the trunk and extremities, then minor signs of pyramidal dysfunction and brisk deep-tendon stretch reflexes. Almost all individuals have epilepsy from an early age. The epilepsy is typically well controlled with anti-seizure medication, but status epilepticus occurs relatively frequently. Mental deterioration is late and mild. Disease severity ranges from independent walking for a few years only to independent walking in the fifth decade. Some individuals have died in their teens or twenties; others are alive in their fifties. An improving phenotype has a similar initial presentation with delayed mental or motor development, followed by an improving clinical course: macrocephaly usually persists, but some children become normocephalic; motor function improves or normalizes; hypotonia and clumsiness may persist in some or neurologic examination may become normal. Some have intellectual disability that is stable, with or without autism. Epilepsy and status epilepticus may occur.|GeneReviews|N|
C1858915|Focal segmental glomerulosclerosis (FSGS) is a pathologic entity associated clinically with proteinuria, the nephrotic syndrome (NPHS), and progressive loss of renal function. It is a common cause of end-stage renal disease (ESRD) (review by Meyrier, 2005).
For a general phenotypic description and a discussion of genetic heterogeneity of focal segmental glomerulosclerosis and nephrotic syndrome (NPHS), see FSGS1 (603278).|OMIM|N|
C1858916|An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 2q23-q24.3.|MONDO|N|
C1858968|Autoimmune lymphoproliferative syndrome (ALPS), caused by defective lymphocyte homeostasis, is characterized by the following: Non-malignant lymphoproliferation (lymphadenopathy, hepatosplenomegaly with or without hypersplenism) that often improves with age. Autoimmune disease, mostly directed toward blood cells. Lifelong increased risk for both Hodgkin and non-Hodgkin lymphoma. In ALPS-FAS (the most common and best-characterized type of ALPS, associated with heterozygous germline pathogenic variants in FAS), non-malignant lymphoproliferation typically manifests in the first years of life, inexplicably waxes and wanes, and then often decreases without treatment in the second decade of life; in many affected individuals, however, neither splenomegaly nor the overall expansion of lymphocyte subsets in peripheral blood decreases. Although autoimmunity is often not present at the time of diagnosis or at the time of the most extensive lymphoproliferation, autoantibodies can be detected before autoimmune disease manifests clinically. In ALPS-FAS caused by homozygous or compound heterozygous (biallelic) pathogenic variants in FAS, severe lymphoproliferation occurs before, at, or shortly after birth, and usually results in death at an early age. ALPS-sFAS, resulting from somatic FAS pathogenic variants in selected cell populations, notably the alpha/beta double-negative T cells (a/ß-DNT cells), appears to be similar to ALPS-FAS resulting from heterozygous germline pathogenic variants in FAS, although lower incidence of splenectomy and lower lymphocyte counts have been reported in ALPS-sFAS and no cases of lymphoma have yet been published.|GeneReviews|N|
C1858969|A reduction in the rate of apoptosis in lymphocytes.|HPO|N|
C1858970|A chronic form of lymphadenopathy that is not related to infection.|HPO|N|
C1858972|An abnormal increase from the normal count of B cells.|HPO|N|
C1858973|An abnormally increased proportion of CD4-negative, CD8-negative (double negative or DN) alpha-beta regulatory T cells (Tregs) as compared to total number of T cells.|HPO|N|
C1858977|An abnormally increased level of immunoglobulin G in blood.|HPO|N|
C1858980|The presence in the serum of autoantibodies directed against thrombocytes.|HPO|N|
C1858981|The presence of autoantibodies in the serum that react against neutrophils.|HPO|N|
C1858990|Dominantly inherited inclusion body beta-thalassemia is characterized by the presence of inclusion bodies in red blood cell precursors, moderately severe anemia, jaundice, and splenomegaly (summary by Ropero et al., 2005).|OMIM|N|
C1858991|Childhood ataxia with central nervous system hypomyelination / vanishing white matter (CACH/VWM) is characterized by ataxia, spasticity, and variable optic atrophy. The phenotypic range includes a prenatal/congenital form, a subacute infantile form (onset age <1 year), an early childhood-onset form (onset age 1 to <4 years), a late childhood-/juvenile-onset form (onset age 4 to <18 years), and an adult-onset form (onset =18 years). The prenatal/congenital form is characterized by severe encephalopathy. In the later-onset forms initial motor and intellectual development is normal or mildly delayed, followed by neurologic deterioration with a chronic progressive or subacute course. While in childhood-onset forms motor deterioration dominates, in adult-onset forms cognitive decline and personality changes dominate. Chronic progressive decline can be exacerbated by rapid deterioration during febrile illnesses or following head trauma or major surgical procedures, or by acute and extreme fright.|GeneReviews|N|
C1858995|An reduced concentration of progesterone in the blood.|HPO|N|
C1859040|A form of autosomal dominant tubulointerstitial kidney disease (ADTKD) due to &lt;i&gt;UMOD&lt;/i&gt; mutations that is clinically characterized by bland urinalysis (absence of blood or protein in the urine), chronic kidney disease (CKD) leading to end-stage kidney disease (ESKD) between 20 and 80 years, and gout occurring in 50% of affected individuals.|ORPHANET|N|
C1859049|A rare congenital disorder in which congenital central hypoventilation syndrome occurs concurrently with Hirschsprung disease. Intestinal aganglionosis is more extensive, and the gender ratio is 1:1, unlike in classical Hirschsprung disease. Mutations in the PHOX2B gene are found in a significant number of patients with Haddad syndrome.|SNOMEDCT_US|N|
C1859062|Long QT syndrome (LQTS) is a cardiac electrophysiologic disorder, characterized by QT prolongation and T-wave abnormalities on the EKG that are associated with tachyarrhythmias, typically the ventricular tachycardia torsade de pointes (TdP). TdP is usually self-terminating, thus causing a syncopal event, the most common symptom in individuals with LQTS. Such cardiac events typically occur during exercise and emotional stress, less frequently during sleep, and usually without warning. In some instances, TdP degenerates to ventricular fibrillation and causes aborted cardiac arrest (if the individual is defibrillated) or sudden death. Approximately 50% of untreated individuals with a pathogenic variant in one of the genes associated with LQTS have symptoms, usually one to a few syncopal events. While cardiac events may occur from infancy through middle age, they are most common from the preteen years through the 20s. Some types of LQTS are associated with a phenotype extending beyond cardiac arrhythmia. In addition to the prolonged QT interval, associations include muscle weakness and facial dysmorphism in Andersen-Tawil syndrome (LQTS type 7); hand/foot, facial, and neurodevelopmental features in Timothy syndrome (LQTS type 8); and profound sensorineural hearing loss in Jervell and Lange-Nielson syndrome.|GeneReviews|N|
C1859077|Aplasia or developmental hypoplasia of the nail.|HPO|N|
C1859081|A rare congenital malformation syndrome characterized by cleft soft palate, severe oligodontia of the deciduous teeth, absence of the permanent dentition, bilateral conductive deafness due to fixation of the footplate of the stapes, short halluces with a wide space between the first and second toes, and fusion of carpal and tarsal bones. There have been no further descriptions in the literature since 1971.|ORDO|N|
C1859082|A multiple congenital anomalies/dysmorphic syndrome with characteristics of multiple skeletal malformations (short femora and humeri, bilateral absence of metatarsal and metacarpal bone in hands and feet, bilateral partial syndactyly of fingers and toes or oligo/polysyndactyly, deformed lumbosacral spine), congenital heart disease (truncus arteriosus), lung and urogenital malformations (bilateral bilobar lungs, horseshoe kidney, cryptorchidism), and facial malformations (bilateral cleft lip and palate, micrognathia, small, low-set ears without external meatus). It is lethal in the neonatal period. There have been no further descriptions in the literature since 1981.|SNOMEDCT_US|N|
C1859092|This syndrome has characteristics of intellectual deficit, calcification of the choroid plexus and elevated levels of cerebrospinal fluid protein. It has been described in two sibships from two unrelated families. The seven children of one of the sibships were born to consanguineous parents. Some patients also had strabismus, hyperactive deep tendon reflexes and foot deformities.|SNOMEDCT_US|N|
C1859093|PNPLA6 disorders span a phenotypic continuum characterized by variable combinations of cerebellar ataxia; upper motor neuron involvement manifesting as spasticity and/or brisk reflexes; chorioretinal dystrophy associated with variable degrees of reduced visual function; and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). The hypogonadotropic hypogonadism occurs either in isolation or as part of anterior hypopituitarism (growth hormone, thyroid hormone, or gonadotropin deficiencies). Common but less frequent features are peripheral neuropathy (usually of axonal type manifesting as reduced distal reflexes, diminished vibratory sensation, and/or distal muscle wasting); hair anomalies (long eyelashes, bushy eyebrows, or scalp alopecia); short stature; and impaired cognitive functioning (learning disabilities in children; deficits in attention, visuospatial abilities, and recall in adults). Some of these features can occur in distinct clusters on the phenotypic continuum: Boucher-Neuhäuser syndrome (cerebellar ataxia, chorioretinal dystrophy, and hypogonadotropic hypogonadism); Gordon Holmes syndrome (cerebellar ataxia, hypogonadotropic hypogonadism, and – to a variable degree – brisk reflexes); Oliver-McFarlane syndrome (trichomegaly, chorioretinal dystrophy, short stature, intellectual disability, and hypopituitarism); Laurence-Moon syndrome; and spastic paraplegia type 39 (SPG39) (upper motor neuron involvement, peripheral neuropathy, and sometimes reduced cognitive functioning and/or cerebellar ataxia).|GeneReviews|N|
C1859098|Benign hereditary chorea (BHC) is a rare movement disorder that beginsin infancy or childhood. Signs and symptoms in infants may include low muscle tone, involuntary movements (chorea), lung infections, and respiratory distress. Signs and symptoms in children may include delayed motor and walking milestones, jerky muscle movements (myoclonus), upper limb dystonia, motor tics, and vocal tics. The chorea often improves with time. In some cases, myoclonus persists or worsens. Children with BHC can havenormal intellect, but may have learning and behavior problems. Other signs and symptoms include thyroid problems (e.g., hypothyroidism) and lung disease (e.g., recurring infections). Treatment is tailored to each child. Tetrabenazine and levodopa have been tried in individual cases with some success. BHC is caused by mutations in the NKX2-1 gene (also known as the TITF1 gene). It is passed through families in an autosomal dominant fashion.|MONDO|N|
C1859101|A chordoma that arises from the spine.|NCI|N|
C1859111|Increase in size of one or more joints.|HPO|N|
C1859120|Deposition of calcium salts in point-like foci within the anterior portion of one or more ribs.|HPO|N|
C1859126|The presence of abnormal punctate (speckled, dot-like) calcifications in one or more epiphyses.|HPO|N|
C1859132|Chondrodysplasia punctata, Toriello type is a rare, non-rhizomelic, primary bone dysplasia syndrome characterized by calcific stippling of epiphyses in association with minor facial abnormalities, short stature and ocular colobomata. In addition, patients present chondrodysplasia punctata, brachycephaly, flat facial profile with small nose, flat lower eyelids and low-set ears, developmental delay, brachytelephalangy and deep palmar creases. Complex congenital cardiac disease and central nervous system anomalies (including partial absence of corpus callosum, small vermis, enlargement of the cisterna magna and/or of the anterior horns of the lateral ventricles) have been reported.|ORDO|N|
C1859133|Rhizomelic chondrodysplasia punctata type 1 (RCDP1), a peroxisome biogenesis disorder (PBD) has a classic (severe) form and a nonclassic (mild) form. Classic (severe) RCDP1 is characterized by proximal shortening of the humerus (rhizomelia) and to a lesser degree the femur, punctate calcifications in cartilage with epiphyseal and metaphyseal abnormalities (chondrodysplasia punctata, or CDP), coronal clefts of the vertebral bodies, and cataracts that are usually present at birth or appear in the first few months of life. Birth weight, length, and head circumference are often at the lower range of normal; postnatal growth deficiency is profound. Intellectual disability is severe, and the majority of children develop seizures. Most affected children do not survive the first decade of life; a proportion die in the neonatal period. Nonclassic (mild) RCDP1 is characterized by congenital or childhood cataracts, CDP or infrequently, chondrodysplasia manifesting only as mild epiphyseal changes, variable rhizomelia, and milder intellectual disability and growth restriction than classic RCDP1.|GeneReviews|N|
C1859148|Blomstrand chondrodysplasia is an autosomal recessive disorder characterized by short limbs, polyhydramnios, hydrops fetalis, facial anomalies, increased bone density, and advanced skeletal maturation (summary by Loshkajian et al., 1997).|OMIM|N|
C1859158|Calcification (abnormal deposits of calcium) in the laryngeal tissues.|HPO|N|
C1859194|Griscelli syndrome type 1 (GS1) is a rare autosomal recessive disorder that results in pigmentary dilution of the skin and hair, the presence of large clumps of pigment in hair shafts, and an accumulation of melanosomes in melanocytes. In addition to the characteristic silvery-gray appearance of hair and pigmentary defects of skin, GS1 is characterized by primary neurologic deficits that usually are apparent in early infancy and include hypotonia, developmental delay, intellectual disability, and seizures. Immune impairment is not present (summary by Abd Elmaksoud et al., 2020).
Bahadoran et al. (2003) characterized GS1 as comprising hypomelanosis and severe central nervous system dysfunction, corresponding to the 'dilute' phenotype in the mouse, and GS2 as comprising hypomelanosis and lymphohistiocytic hemophagocytosis, corresponding to the 'ashen' phenotype in mouse.
Anikster et al. (2002), Menasche et al. (2002), Huizing et al. (2002), and Bahadoran et al. (2003, 2003) suggested that Elejalde neuroectodermal melanolysosomal syndrome (256710) in some patients and GS1 represent the same entity.
Genetic Heterogeneity of Griscelli Syndrome
Griscelli syndrome type 2 (GS2; 607624), characterized by hypomelanosis with immunologic impairment, is caused by mutation in the RAB27A gene (603868). Griscelli syndrome type 3 (GS3; 609227), characterized by hypomelanosis with no immunologic or neurologic manifestations, is caused by mutation in the melanophilin (MLPH; 606526) gene.|OMIM|N|
C1859198|GDAP1-related hereditary motor and sensory neuropathy (GDAP1-HMSN) is a peripheral neuropathy (also known as a subtype of Charcot-Marie-Tooth disease) that typically affects the lower extremities earlier and more severely than the upper extremities. As the neuropathy progresses, the distal upper extremities also become severely affected. Proximal muscles can also become weak. Age at onset ranges from infancy to early childhood. In most cases, disease progression causes disabilities within the first or second decade of life. At the end of the second decade, most individuals are wheelchair bound. Disease progression varies considerably even within the same family. The neuropathy can be either of the demyelinating type with reduced nerve conduction velocities or the axonal type with normal nerve conduction velocities. Vocal cord paresis is common. Intelligence is normal. Life expectancy is usually normal, but on occasion may be reduced because of secondary complications.|GeneReviews|N|
C1859209|Klippel-Feil syndrome (KFS) is a congenital anomaly characterized by a defect in the formation or segmentation of the cervical vertebrae, resulting in a fused appearance. The clinical triad consists of short neck, low posterior hairline, and limited neck movement, although less than 50% of patients demonstrate all 3 clinical features (Tracy et al., 2004).
Clarke et al. (1998) proposed a classification system for KFS in which an autosomal recessive form is characterized by the most rostral fusion at C1 and the presence of severe associated anomalies, including short neck, cardiac defects, and craniofacial anomalies.
For a general description and a discussion of genetic heterogeneity of Klippel-Feil syndrome, see KFS1 (118100).|OMIM|N|
C1859223|Narrow, paramedian longitudinal depressions in the plantar skin of the forefoot.|HPO|N|
C1859236|Neonatal jaundice refers to a yellowing of the skin and other tissues of a newborn infant as a result of increased concentrations of bilirubin in the blood. Neonatal jaundice affects over half of all newborns to some extent in the first week of life. Prolonged neonatal jaundice is said to be present if the jaundice persists for longer than 14 days in term infants and 21 days in preterm infants.|HPO|N|
C1859241|Increased concentration of long-chain fatty acids in the blood circulation.|HPO|N|
C1859252|Cerebro-facio-thoracic dysplasia is a rare condition characterized by abnormal development (dysplasia) of the brain (cerebro) and structures in the face (facio) and torso (thoracic). The problems with development lead to the key features of cerebro-facio-thoracic dysplasia, which include severe intellectual disability, distinctive facial features, and abnormalities of the ribs and spinal bones (vertebrae).\n\nIn addition to intellectual disability, individuals with cerebro-facio-thoracic dysplasia have delayed development of speech and movement (motor) skills, and in some, these skills never develop. Nearly one-quarter of affected individuals never learn to speak and almost half are unable to walk. Weak muscle tone (hypotonia) and difficulty feeding occur in some affected infants. People with cerebro-facio-thoracic dysplasia can have neurodevelopmental problems, such as anxiety, autism spectrum disorder, or self-injuring behavior; however, many people with the condition are described as friendly and good-natured.\n\nDistinctive facial features common in cerebro-facio-thoracic dysplasia include a wide, short skull (brachycephaly); highly arched eyebrows or eyebrows that grow together in the middle (synophrys); widely spaced eyes (hypertelorism); a wide nasal bridge; low-set ears; an upper lip with pronounced curves (Cupid's bow upper lip); and small teeth (microdontia). Some affected individuals have overgrowth of the gums (gingival hyperplasia), an opening in the roof of the mouth (cleft palate), or a split in the upper lip (cleft lip).\n\nProblems with bone development in the torso (thorax) commonly leads to bone abnormalities such as two or more ribs that are joined together (fused) or ribs that are abnormally shaped with two prongs at one end (bifid ribs). Many people with cerebro-facio-thoracic dysplasia have abnormal side-to-side curvature of the spine (scoliosis) due to malformation of the vertebrae; some vertebrae may also be fused. Additionally, the shoulder blades can be affected in people with this condition.\n\nA wide variety of other features can occur in cerebro-facio-thoracic dysplasia, such as abnormalities involving the eyes, skin, or hair. Heart defects, digestive problems, or genitourinary problems (such as abnormal kidneys or reproductive organs) can also occur. Affected individuals may also have bone or joint abnormalities in other parts of the body.|MedlinePlus Genetics|N|
C1859273|Pathological deposition of calcium salts in the dentate nucleus of the cerebellum.|HPO|N|
C1859292|A facial appearance characterized by a permanently or nearly permanently opened mouth, in which the upper lip is tented in a way that the opened mouth has the appearance of a triangle.|HPO|N|
C1859298|Autosomal recessive spinocerebellar ataxia-2 is an neurologic disorder characterized by onset of impaired motor development and ataxic gait in early childhood. Additional features often include loss of fine motor skills, dysarthria, nystagmus, cerebellar signs, and delayed cognitive development with intellectual disability. Brain imaging shows cerebellar atrophy. Overall, the disorder is non- or slowly progressive, with survival into adulthood (summary by Jobling et al., 2015).|OMIM|N|
C1859300|Hepatic fibrosis-renal cysts-intellectual disability syndrome is a rare, syndromic intellectual disability characterized by early developmental delay with failure to thrive, intellectual disability, congenital hepatic fibrosis, renal cystic dysplasia, and dysmorphic facial features (bilateral ptosis, anteverted nostrils, high arched palate, and micrognathia). Variable additional features have been reported, including cerebellar anomalies, postaxial polydactyly, syndactyly, genital anomalies, tachypnea. There have been no further descriptions in the literature since 1987.|ORDO|N|
C1859305|PNPLA6 disorders span a phenotypic continuum characterized by variable combinations of cerebellar ataxia; upper motor neuron involvement manifesting as spasticity and/or brisk reflexes; chorioretinal dystrophy associated with variable degrees of reduced visual function; and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). The hypogonadotropic hypogonadism occurs either in isolation or as part of anterior hypopituitarism (growth hormone, thyroid hormone, or gonadotropin deficiencies). Common but less frequent features are peripheral neuropathy (usually of axonal type manifesting as reduced distal reflexes, diminished vibratory sensation, and/or distal muscle wasting); hair anomalies (long eyelashes, bushy eyebrows, or scalp alopecia); short stature; and impaired cognitive functioning (learning disabilities in children; deficits in attention, visuospatial abilities, and recall in adults). Some of these features can occur in distinct clusters on the phenotypic continuum: Boucher-Neuhäuser syndrome (cerebellar ataxia, chorioretinal dystrophy, and hypogonadotropic hypogonadism); Gordon Holmes syndrome (cerebellar ataxia, hypogonadotropic hypogonadism, and – to a variable degree – brisk reflexes); Oliver-McFarlane syndrome (trichomegaly, chorioretinal dystrophy, short stature, intellectual disability, and hypopituitarism); Laurence-Moon syndrome; and spastic paraplegia type 39 (SPG39) (upper motor neuron involvement, peripheral neuropathy, and sometimes reduced cognitive functioning and/or cerebellar ataxia).|GeneReviews|N|
C1859306|A very rare disease, characterised by hypodontia and sparse hair in combination with cerebellar ataxia and normal intelligence. Imaging demonstrates cerebellar atrophy.|SNOMEDCT_US|N|
C1859309|Cenani-Lenz syndactyly syndrome (CLSS) is an autosomal recessive disorder characterized by mainly by anomalies of distal limb development, with fusion and disorganization of metacarpal and phalangeal bones, radius and ulnar shortening, radioulnar synostosis, and severe syndactyly of hands and feet. Mild facial dysmorphism is present in most patients. Kidney anomalies, including renal agenesis and hypoplasia, occur in over half of patients (summary by Li et al., 2010).|OMIM|N|
C1859310|Celiac disease is a systemic autoimmune disease that can be associated with gastrointestinal findings (diarrhea, malabsorption, abdominal pain and distension, bloating, vomiting, and weight loss) and/or highly variable non-gastrointestinal findings (dermatitis herpetiformis, chronic fatigue, joint pain/inflammation, iron deficiency anemia, migraines, depression, attention-deficit disorder, epilepsy, osteoporosis/osteopenia, infertility and/or recurrent fetal loss, vitamin deficiencies, short stature, failure to thrive, delayed puberty, dental enamel defects, and autoimmune disorders). Classic celiac disease, characterized by mild to severe gastrointestinal symptoms, is less common than non-classic celiac disease, characterized by absence of gastrointestinal symptoms.|GeneReviews|N|
C1859315|Congenital cataract-ichthyosis syndrome is characterized by congenital cataract associated with ichthyosis. It has been described in less than ten patients from two unrelated families. Transmission is autosomal recessive.|MONDO|N|
C1859316|Palmoplantar keratoderma and congenital alopecia-2 (PPKCA2) is an autosomal recessive disorder characterized by congenital alopecia and progressive hyperkeratosis resulting in sclerodactyly, severe contractures and tapering of the digits, and pseudoainhum formation. Nail changes occur in some patients (Castori et al., 2010).
Also see PPKCA1 (104100), a less severe, autosomal dominant disorder.|OMIM|N|
C1859317|Sengers syndrome is an autosomal recessive mitochondrial disorder characterized by congenital cataracts, hypertrophic cardiomyopathy, skeletal myopathy, exercise intolerance, and lactic acidosis. Mental development is normal, but affected individuals may die early from cardiomyopathy (summary by Mayr et al., 2012). Skeletal muscle biopsies of 2 affected individuals showed severe mtDNA depletion (Calvo et al., 2012).|OMIM|N|
C1859327|Heart defects limb shortening is an association disorder combining congenital heart malformation and skeletal dysplasia (including coronal clefting of the vertebral bodies and short limbs). It has been described only once in the literature, in two male siblings from Kuwaiti first cousins. The clinical and radiological features of these patients were reported as a distinct cardio-skeletal syndrome.|SNOMEDCT_US|N|
C1859341|Hypoplasia of the cerebellum, pontine nuclei, and inferior olivary nucleus.|HPO|N|
C1859353|A rare genetic primary immunodeficiency with characteristics of increased susceptibility to fungal infections that typically manifest as recurrent, chronic mucocutaneous candidiasis, systemic candidiasis with meningoencephalitis and deep dermatophytosis. Dermatophytes invade skin, hair, nails, lymph nodes and brain, resulting in erythematosquamous lesions, nodular subcutaneous or ulcerative infiltrations, severe onychomycosis and lymphadenopathy.|SNOMEDCT_US|N|
C1859356|A rare syndrome with characteristics of camptodactyly, muscle hypoplasia and weakness, skeletal anomalies, facial dysmorphism and abnormal dermatoglyphics. Dysmorphic features include facial asymmetry, hypertelorism, broad nasal bridge, long philtrum and a small mouth. Winging scapulae, scoliosis, syndactyly and clinodactyly are commonly observed. The affected patients usually have normal mental development. The molecular basis of the syndrome has not yet been elucidated.|SNOMEDCT_US|N|
C1859357|An extremely rare chondrodysplastic malformation syndrome characterized by the combination of arachnodactyly, becoming evident at around the age of 10, camptodactyly, and scoliosis. Additional reported manifestations include a mild intellectual disability and a mild facial dysmorphism including a broad nose and flaring nostrils. There have been no further descriptions in the literature since 1972.|ORDO|N|
C1859359|A rare syndrome consisting of growth retardation, facial dysmorphism, camptodactyly and skeletal anomalies. To date only eight cases have been reported in the literature. Dysmorphic features include flat face, epicanthic folds, telecanthus, small downturned mouth, small ears with attached lobule and abnormal dental eruption and occlusion. Some patients had psychomotor development delayed. The reported cases suggest the condition is hereditary and is transmitted as an autosomal recessive trait.|SNOMEDCT_US|N|
C1859363|An abnormality of tooth eruption.|HPO|N|
C1859368|The distal interphalangeal joint and/or the proximal interphalangeal joint of the second to fifth fingers cannot be extended to 180 degrees by either active or passive extension.|HPO|N|
C1859371|The association of limb defects and multivisceral anomalies. The syndrome has been reported in eight infants from four different families. Skeletal features include tetramelic campomelia and short long bones. Extraskeletal manifestations may include cervical lymphocele, generalised hydrops, polycystic kidneys, pancreas and liver, fibrotic liver or pancreas, polysplenia, heterotaxia, hypoplastic lung, short bowel. All newborns reported so far were either stillborn or died shortly after birth.|SNOMEDCT_US|N|
C1859372|Adult-onset calcification of the lower extremity arteries (CALJA), including the iliac, femoral, and tibial arteries, and hand and foot capsule joints, is an autosomal recessive condition that represents only the second mendelian disorder of isolated calcification (see generalized arterial calcification of infancy (GACI), 208000). Age of onset has been reported as early as the second decade of life, usually involving intense joint pain or calcification in the hands (St. Hilaire et al., 2011).|OMIM|N|
C1859385|This syndrome has characteristics of congenital anodontia, a small maxilla, short stature with shortened metacarpals and metatarsals, sparse hair, albinoidism and multiple ocular anomalies. It has been described in three siblings (one brother and two sisters). Transmission is autosomal recessive.|SNOMEDCT_US|N|
C1859391|Absence of pubic hair.|HPO|N|
C1859392|Absence of axillary hair.|HPO|N|
C1859394|A rare primary bone dysplasia characterized by congenital symmetric or asymmetric shortness and bowing of long bones, resulting in shortness of limbs and limited extension at the knees and elbows. Additional reported features are ''beaten metal'' appearance of the skull, dolichomacrocephaly, ocular hypertelorism, and anterior beaking and bone-within-bone appearance of vertebrae. There have been no further descriptions in the literature since 1993.|ORDO|N|
C1859399|A bending or abnormal curvature of the radius.|HPO|N|
C1859405|Bowen-Conradi syndrome is a disorder that affects many parts of the body and is usually fatal in infancy. Affected individuals have a low birth weight, experience feeding problems, and grow very slowly. Their head is unusually small overall (microcephaly), but is longer than expected compared with its width (dolichocephaly). Characteristic facial features include a prominent, high-bridged nose and an unusually small jaw (micrognathia) and chin. Affected individuals typically have pinky fingers that are curved toward or away from the ring finger (fifth finger clinodactyly) or permanently flexed (camptodactyly), feet with soles that are rounded outward (rocker-bottom feet), and restricted joint movement.\n\nOther features that occur in some affected individuals include seizures; structural abnormalities of the kidneys, heart, brain, or other organs; and an opening in the lip (cleft lip) with or without an opening in the roof of the mouth (cleft palate). Affected males may have the opening of the urethra on the underside of the penis (hypospadias) or undescended testes (cryptorchidism).\n\nBabies with Bowen-Conradi syndrome do not achieve developmental milestones such as smiling or sitting, and they usually do not survive more than 6 months.|MedlinePlus Genetics|N|
C1859407|A lethal bone dysplasia with characteristics of low birth weight, rhizomelic dwarfism, bent femora and short chest producing asphyxia. The disease has been described in three siblings from healthy, non-consanguineous parents of Finnish origin and in four siblings from non-consanguineous parents of French origin with no family history of dwarfism. There has been no further description of this disease in the literature since 1988.|SNOMEDCT_US|N|
C1859432|A rare syndrome characterised by the association of blepharophimosis and ptosis, V-esotropia, and weakness of extraocular and frontal muscles with syndactyly of the toes, short stature, prognathism, and hypertrophy and fusion of the eyebrows.|ORDO|N|
C1859438|Reduced strength of the frontalis muscle (which is located on the forehead).|HPO|N|
C1859443|Severe degree of osteoporosis.|HPO|N|
C1859444|A type of dysharmonic skeletal maturation in which there is a delay in skeletal maturation whose degree differs markedly in different bones.|HPO|N|
C1859446|Joint dislocation of the femoral head.|HPO|N|
C1859447|Underdevelopment of the ischium, which forms the lower and back part of the hip bone.|HPO|N|
C1859449|Decreased width of the diaphysis of long bones.|HPO|N|
C1859452|Microcephalic osteodysplastic primordial dwarfism type I is a severe autosomal recessive skeletal dysplasia characterized by dwarfism, microcephaly, and neurologic abnormalities, including mental retardation, brain malformations, and ocular/auditory sensory deficits. Patients often die in early childhood (summary by Pierce and Morse, 2012).|OMIM|N|
C1859455|Abnormally decreased size of the anterior fontanelle with respect to age-dependent norms.|HPO|N|
C1859458|A discontinuity of the vertebral arch, i.e., of the posterior part of a vertebra.|HPO|N|
C1859460|A bending or abnormal curvature of the humerus.|HPO|N|
C1859461|Bowing (abnormal curvature) of the femur.|HPO|N|
C1859468|A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of severe short stature and craniofacial dysmorphism (microcephaly, narrow face with flat cheeks, ptosis, prominent nose with a convex ridge, low-set ears with small or absent lobes, high-arched/cleft palate, micrognathia), associated with premature greying and loss of scalp hair, redundant, dry and wrinkled skin of the palms, premature senility and varying degrees of intellectual disability. Cryptorchidism and skeletal anomalies may also be observed. There have been no further descriptions in the literature since 1970.|SNOMEDCT_US|N|
C1859470|Increased size of the basal ganglia.|HPO|N|
C1859477|Proximal radial shortening owing to a congenital defect of development.|HPO|N|
C1859478|Underdevelopment or shortening of the end of the fibula (calf bone) nearest the knee.|HPO|N|
C1859480|A cone-shaped appearance of the epiphyses of the fingers of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx.|HPO|N|
C1859481|Anomalous flexion crease (i.e., a transverse line that crosses the skin of a finger).|HPO|N|
C1859486|Bietti crystalline dystrophy (BCD) is a chorioretinal degeneration characterized by the presence of yellow-white crystals and/or complex lipid deposits in the retina and (to a variable degree) the cornea. Progressive atrophy and degeneration of the retinal pigment epithelium (RPE) / choroid lead to symptoms similar to those of other forms of retinal degeneration that fall under the category of retinitis pigmentosa and allied disorders, namely: reduced visual acuity, poor night vision, abnormal retinal electrophysiology, visual field loss, and often impaired color vision. Marked asymmetry between eyes is not uncommon. Onset is typically during the second to third decade of life, but ranges from the early teenage years to beyond the third decade. With time, loss of peripheral visual field, central acuity, or both result in legal blindness in most if not all affected individuals.|GeneReviews|N|
C1859487|An exceedingly rare genetic neurological and developmental disorder reported in a very small number of patients with a poorly defined phenotype including iris coloboma, short stature, obesity, hypogonadism, post axial polydactyly, and intellectual disability. Hydrocephalus and facial dysostosis were also reported. The syndrome shares features with Bardet-Biedl syndrome. There have been no new descriptions in the literature since 1997.|SNOMEDCT_US|N|
C1859495|A form of hemolytic anemia that occurs in repeated episodes.|HPO|N|
C1859499|3-Methylcrotonylglycinuria is an autosomal recessive disorder of leucine catabolism. The clinical phenotype is highly variable, ranging from neonatal onset with severe neurologic involvement to asymptomatic adults. There is a characteristic organic aciduria with massive excretion of 3-hydroxyisovaleric acid and 3-methylcrotonylglycine, usually in combination with a severe secondary carnitine deficiency. MCC activity in extracts of cultured fibroblasts of patients is usually less than 2% of control (summary by Baumgartner et al., 2001).
Also see 3-methylcrotonylglycinuria I (MCC1D; 210200), caused by mutation in the alpha subunit of 3-methylcrotonyl-CoA carboxylase (MCCC1; 609010).|OMIM|N|
C1859506|An increased concentration of ammonia in the blood with sudden onset.|HPO|N|
C1859516|Repeated transient episodes of metabolic acidosis, that is, of the buildup of acid or depletion of base due to accumulation of metabolic acids.|HPO|N|
C1859518|Beta-aminoisobutyric acid (BAIB) is a product of pyrimidine catabolism. Excretion of BAIB in urine is a benign 'metabolic polymorphism' present in many human populations (Scriver and Perry, 1989).|OMIM|N|
C1859520|Spasticity that increases in degree with time.|HPO|N|
C1859523|A limitation in the passive range of motion of a joint of the lower limb resulting from loss of elasticity in the periarticular tissues owing to structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules or skin.|HPO|N|
C1859526|A lethal malformation syndrome reported in 2 brothers of first-cousin parents with characteristics of hydrocephalus, cardiac malformation, dense bones and unusual facies with down-slanting palpebral fissures, bulbous nose, broad nasal bridge, micrognathia and a long upper lip. Transmission is likely autosomal recessive. There have been no further descriptions in the literature since 1984.|SNOMEDCT_US|N|
C1859534|Bare lymphocyte syndrome type II (BLS II) is an inherited disorder of the immune system categorized as a form of combined immunodeficiency (CID). People with BLS II lack virtually all immune protection from bacteria, viruses, and fungi. They are prone to repeated and persistent infections that can be very serious or life-threatening. These infections are often caused by "opportunistic" organisms that ordinarily do not cause illness in people with a normal immune system.\n\nIn people with BLS II, infection-fighting white blood cells (lymphocytes) are missing specialized proteins on their surface called major histocompatibility complex (MHC) class II proteins, which is where the condition got its name. Because BLS II is the most common and best studied form of a group of related conditions, it is often referred to as simply bare lymphocyte syndrome (BLS).\n\nBLS II is typically diagnosed in the first year of life. Most affected infants have persistent infections in the respiratory, gastrointestinal, and urinary tracts. Because of the infections, affected infants have difficulty absorbing nutrients (malabsorption), and they grow more slowly than their peers. Eventually, the persistent infections lead to organ failure. Without treatment, individuals with BLS II usually do not survive past early childhood.|MedlinePlus Genetics|N|
C1859536|BLS II is typically diagnosed in the first year of life. Most affected infants have persistent infections in the respiratory, gastrointestinal, and urinary tracts. Because of the infections, affected infants have difficulty absorbing nutrients (malabsorption), and they grow more slowly than their peers. Eventually, the persistent infections lead to organ failure. Without treatment, individuals with BLS II usually do not survive past early childhood.\n\nIn people with BLS II, infection-fighting white blood cells (lymphocytes) are missing specialized proteins on their surface called major histocompatibility complex (MHC) class II proteins, which is where the condition got its name. Because BLS II is the most common and best studied form of a group of related conditions, it is often referred to as simply bare lymphocyte syndrome (BLS).\n\nBare lymphocyte syndrome type II (BLS II) is an inherited disorder of the immune system categorized as a form of combined immunodeficiency (CID). People with BLS II lack virtually all immune protection from bacteria, viruses, and fungi. They are prone to repeated and persistent infections that can be very serious or life-threatening. These infections are often caused by "opportunistic" organisms that ordinarily do not cause illness in people with a normal immune system.|MedlinePlus Genetics|N|
C1859564|Bardet-Biedl syndrome-3 (BBS3) is a rare autosomal recessive disorder characterized by retinal dystrophy, polydactyly, renal structural abnormalities, and history of obesity. Although mental retardation has been considered part of the BBS phenotype, several patients with BBS3 and normal intelligence have been reported. Additionally, the obesity in several BBS3 patients has been reversible with caloric restriction and exercise (Young et al., 1998; Ghadami et al., 2000).
For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (209900).|OMIM|N|
C1859565|Bardet-Biedl syndrome-7 (BBS7) is an autosomal recessive disorder characterized by retinitis pigmentosa, postaxial polydactyly, mental retardation, obesity, renal anomalies, and hypogenitalism (Harville et al., 2010). Zaghloul and Katsanis (2009) estimated the contribution of BBS7 gene mutations to the total BBS mutational load to be 1.50%.
For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (209900).|OMIM|N|
C1859566|BBS8 is an autosomal recessive disorder characterized by retinitis pigmentosa, obesity, postaxial polydactyly, hypogonadism, and developmental delay (Ansley et al., 2003).
For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (209900).|OMIM|N|
C1859567|BBS9 is an autosomal recessive disorder characterized by obesity, polydactyly, renal anomalies, retinopathy, and mental retardation (Abu-Safieh et al., 2012).
For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (209900).|OMIM|N|
C1859568|BBS10 is characterized by progressive retinal dystrophy, obesity, polydactyly, cognitive impairment, and renal dysplasia (Stoetzel et al., 2006). BBS10 represents a major locus for BBS, with mutations in the BBS10 gene accounting for approximately 20% of BBS patients (Stoetzel et al., 2006; Zaghloul and Katsanis, 2009).
For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (209900).|OMIM|N|
C1859569|Bardet-Biedl syndrome-11 (BBS11) is a pleiotropic autosomal recessive disorder characterized by obesity, pigmentary retinopathy, polydactyly, renal abnormalities, learning disabilities, and hypogenitalism (Chiang et al., 2006).
For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (209900).|OMIM|N|
C1859570|BBS12 is a clinically pleiotropic autosomal recessive ciliopathy. The patients with BBS12 studied by Stoetzel et al. (2007) and Harville et al. (2010) met the diagnostic criteria of Beales et al. (1999), which required the presence of either 4 primary features, including rod-cone dystrophy, polydactyly, obesity, learning disabilities, hypogonadism (in males), and/or renal anomalies; or 3 primary plus 2 secondary features (e.g., developmental delay, ataxia, cataracts).
For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (209900).|OMIM|N|
C1859591|A rare multiple congenital anomalies/dysmorphic syndrome characterized by auditory canal atresia (resulting in moderate conductive hearing loss) associated with intellectual disability, ventricular septal defect, umbilical hernia, anteriorly displaced anus, various skeletal anomalies (such as mild clubfoot, long fifth fingers, proximally placed thumbs), and craniofacial dysmorphism which includes brachycephaly, prominent forehead, flattened occiput, midface hypoplasia, anteverted nares, and low set, posteriorly rotated ears with overlapping superior helix. There have been no further descriptions in the literature since 1987.|ORDO|N|
C1859592|Atricia with papular lesions (APL) is characterized by hair loss soon after birth and the development, years later, of a diffuse papular rash over the entire skin surface. The papular rash distinguishes it from alopecia universalis (203655) (summary by Sprecher et al., 1999).|OMIM|N|
C1859596|A rare, severe, circulatory system disease characterized by premature, diffuse, severe atherosclerosis (including the aorta and renal, coronary, and cerebral arteries), sensorineural deafness, diabetes mellitus, progressive neurological deterioration with cerebellar symptoms and photomyoclonic seizures, and progressive nephropathy. Partial deficiency of mitochondrial complexes III and IV in the kidney and fibroblasts (but not in muscle) may be associated. There have been no further descriptions in the literature since 1994.|ORDO|N|
C1859598|Ataxia with oculomotor apraxia type 1 (AOA1) is characterized by childhood onset of slowly progressive cerebellar ataxia, followed by oculomotor apraxia and a severe primary motor peripheral axonal motor neuropathy. The first manifestation is progressive gait imbalance (mean age of onset: 4.3 years; range: 2-10 years), followed by dysarthria, then upper-limb dysmetria with mild intention tremor. Oculomotor apraxia, usually noticed a few years after the onset of ataxia, progresses to external ophthalmoplegia. All affected individuals have generalized areflexia followed by a peripheral neuropathy and quadriplegia with loss of ambulation about seven to ten years after onset. Hands and feet are short and atrophic. Chorea and upper-limb dystonia are common. Intellect remains normal in some individuals; in others, different degrees of cognitive impairment have been observed.|GeneReviews|N|
C1859606|A reduced number of large myelinated nerve fibers.|HPO|N|
C1859624|Reduced functionality of the process in which a precursor cell type acquires the specialized features of a B cell. A B cell is a lymphocyte of B lineage with the phenotype CD19-positive and capable of B cell mediated immunity.|HPO|N|
C1859680|Bizygomatic (upper face) and bigonial (lower face) width greater than 2 standard deviations above the mean (objective); or an apparent increase in the width of the face (subjective).|HPO|N|
C1859682|Underdevelopment of frontal sinus.|HPO|N|
C1859690|The camptodactyly-arthropathy-coxa vara-pericarditis syndrome (CACP) is an autosomal recessive condition characterized by the association of congenital or early-onset camptodactyly and noninflammatory arthropathy with synovial hyperplasia. Progressive coxa vara deformity and/or noninflammatory pericardial or pleural effusions are found in some patients (summary by Faivre et al., 2000).|OMIM|N|
C1859691|A question about whether an individual is or was easily fatigued.|NCI|N|
C1859697|An abnormal enlargement of the proximal epiphysis of the femur.|HPO|N|
C1859709|A very rare congenital contracture disorder, reported exclusively in Yup'ik Eskimos of the Kuskokwim River delta region of Alaska, characterized by multiple contractures of large joints (predominantly the knees and ankles) that present at birth or during childhood but are lifelong; deformities of the spine, pelvis and feet; and sometimes proximally or distally displaced patellae and muscle atrophy in the limbs with contractures. Additional radiological features include mild vertebral wedging, elongation of the vertebral pedicle, and clubbing of the distal clavicle. An autosomal recessive pattern of inheritance has been suggested.|ORDO|N|
C1859710|An arthrogryposis syndrome described in two siblings to date with the association of multiple congenital joint contractures (of the large joints, fingers and toes) and hyperkeratosis (i.e. thick, scaling and fissured skin) and death occurring in early infancy. There have been no further reports in the literature since 1993.|SNOMEDCT_US|N|
C1859711|An extremely rare type of arthrogryposis multiplex congenita with the combination of multiple joint contractures with movement limitation and microstomia with a whistling appearance of the mouth that may cause feeding, swallowing and speech difficulties, a distinctive expressionless facies, severe developmental delay, central and autonomous nervous system dysfunction, occasionally Pierre-Robin sequence and lethality generally occurring during the first months of life.|SNOMEDCT_US|N|
C1859717|Decreased distance from the nasal tip to the nasal base.|HPO|N|
C1859721|A form of arthrogryposis multiplex congenital characterised by congenital immobility of the limbs with fixation of multiple joints and muscle wasting. This condition is caused by neurogenic muscular atrophy.|SNOMEDCT_US|N|
C1859722|Any arthrogryposis-renal dysfunction-cholestasis syndrome in which the cause of the disease is a mutation in the VPS33B gene.|MONDO|N|
C1859726|Arterial tortuosity syndrome (ATS) is characterized by widespread elongation and tortuosity of the aorta and mid-sized arteries as well as focal stenosis of segments of the pulmonary arteries and/or aorta combined with findings of a generalized connective tissue disorder, which may include soft or doughy hyperextensible skin, joint hypermobility, inguinal hernia, and diaphragmatic hernia. Skeletal findings include pectus excavatum or carinatum, arachnodactyly, scoliosis, knee/elbow contractures, and camptodactyly. The cardiovascular system is the major source of morbidity and mortality with increased risk at any age for aneurysm formation and dissection both at the aortic root and throughout the arterial tree, and for ischemic vascular events involving cerebrovascular circulation (resulting in non-hemorrhagic stroke) and the abdominal arteries (resulting in infarctions of abdominal organs).|GeneReviews|N|
C1859727|Generalized arterial calcification of infancy (GACI) is a severe autosomal recessive disorder characterized by calcification of the internal elastic lamina of muscular arteries and stenosis due to myointimal proliferation. GACI is often fatal within the first 6 months of life because of myocardial ischemia resulting in refractory heart failure (summary by Rutsch et al., 2003 and Cheng et al., 2005).
Genetic Heterogeneity of Arterial Calcification
Generalized arterial calcification of infancy-2 (GACI2; 614473) is caused by mutation in the ABCC6 gene (603234) on chromosome 16p13.
Homozygous or compound heterozygous mutation in the NT5E gene (129190) can cause adult-onset of calcification of arteries and joints (211800).|OMIM|N|
C1859747|Reduced concentration of apolipoprotein C-II in the blood circulation.|HPO|N|
C1859752|Digital extensor muscle aplasia-polyneuropathy is a rare, hereditary motor and sensory neuropathy characterized by flexion deformities of the thumb and fingers, sensory deficit in the hand and polyneuropathic electrophysiologic findings in the limbs. Operation on the hands reveals extensor muscles and their tendons to be absent or hypoplastic. There have been no further descriptions in the literature since 1986.|ORDO|N|
C1859753|An extremely rare association syndrome, described in only two brothers to date (one of which died at 2 months of age), characterized by aplasia cutis congenita of the vertex and generalized edema (as well as hypoproteinemia and lymphopenia) due to intestinal lymphangiectasia. There have been no further descriptions in the literature since 1985.|ORDO|N|
C1859754|An extremely rare congenital limb malformation syndrome, described in only 3 patients to date with the association of hypoplasia or aplasia of the hand and foot phalanges, hemivertebrae and various urogenital and/or intestinal abnormalities (i.e. dysgenesis of the urogenital tract and rectum). There have been no further descriptions in the literature since 1991.|SNOMEDCT_US|N|
C1859772|A rare vascular anomaly with characteristics of absence of the hepatic segment of the inferior vena cava and presence of an enlarged azygos vein (or in rare cases hemiazygos vein, if there is a left-sided inferior vena cava) draining the venous blood from the caudal segments. The post-hepatic segment of the inferior vena cava is present, draining only the hepatic veins into the right atrium. Most patients remain asymptomatic, if the anomaly is isolated. Association with congenital heart disease and asplenia or polysplenia syndromes has been reported.|SNOMEDCT_US|N|
C1859773|The phenotypic spectrum of SOX2 disorder includes anophthalmia and/or microphthalmia, brain malformations, developmental delay / intellectual disability, esophageal atresia, hypogonadotropic hypogonadism (manifest as cryptorchidism and micropenis in males, gonadal dysgenesis infrequently in females, and delayed puberty in both sexes), pituitary hypoplasia, postnatal growth delay, hypotonia, seizures, and spastic or dystonic movements.|GeneReviews|N|
C1859775|Underdevelopment of the anterior pituitary gland.|HPO|N|
C1859778|Slow or limited growth after birth.|HPO|N|
C1859782|An extremely rare syndrome reported in two siblings of non consanguineous parents that is characterized by the association of ocular abnormalities (partial aniridia, congenital glaucoma, telecanthus) with frontal bossing, hypertelorism, unilateral renal agenesis and mild psychomotor delay. There have been no further descriptions in the literature since 1974.|ORDO|N|
C1859784|A rare genetic subcutaneous tissue disorder with the presence of benign usually multiple subcutaneous tumors. The tumors are composed of adipose tissue and blood vessels typically manifesting as yellow firm circumscribed 1-4 cm in diameter tumors located in the arms, legs and trunk with deep extension of the lesions between muscles, tendons and joint capsules (without infiltration of these structures) in several members of a single family. Tumors may be tender or mildly painful when palpated and do not regress spontaneously.|SNOMEDCT_US|N|
C1859806|A juvenile amyotrophic lateral sclerosis that is slowly progressive with concomitantly progressive dementia.|MONDO|N|
C1859807|ALS2-related disorder involves retrograde degeneration of the upper motor neurons of the pyramidal tracts and comprises a clinical continuum of the following three phenotypes: Infantile ascending hereditary spastic paraplegia (IAHSP), characterized by onset of spasticity with increased reflexes and sustained clonus of the lower limbs within the first two years of life, progressive weakness and spasticity of the upper limbs by age seven to eight years, and wheelchair dependence in the second decade with progression toward severe spastic tetraparesis and a pseudobulbar syndrome caused by progressive cranial nerve involvement. Juvenile primary lateral sclerosis (JPLS), characterized by upper motor neuron findings of pseudobulbar palsy and spastic quadriplegia without dementia or cerebellar, extrapyramidal, or sensory signs. Juvenile amyotrophic lateral sclerosis (JALS or ALS2), characterized by onset between ages three and 20 years. All affected individuals show a spastic pseudobulbar syndrome (spasticity of speech and swallowing) together with spastic paraplegia. Some individuals are bedridden by age 12 to 50 years.|GeneReviews|N|
C1859817|Alpha-aminoadipic and alpha ketoadipic aciduria (AAKAD) is an inborn error of lysine, tryptophan, and hydroxylysine metabolism, which is manifested by the accumulation and excretion of 2-aminoadipic, 2-ketoadipic, and 2-hydroxyadipic acids.|OMIM|N|
C1859819|A defect in the ability to concentrate the urine.|HPO|N|
C1859828|Lipofuscin, a generic term applied to autofluorescent lipopigment, is a mixture of protein and lipid that accumulates in most aging cells, particularly those involved in high lipid turnover (e.g., the adrenal medulla) or phagocytosis of other cell types (e g., the retinal pigment epithelium or RPE; macrophage). This term pertains if there is an increase in the extraneuronal accumulation of lipofuscin (also known as autofluorescent lipoprotein) more than expected for the age of the patient.|HPO|N|
C1859833|Accumulation of granular osmiophilic material in blood vessel walls. Osmiophilic material becomes black upon staining with osmium tetroxide. Deposition of granular osmiophilic material (GOM) is the vascular pathological hallmark of CADASIL, which is the most prevalent hereditary small vessel disease and is caused by missense mutations in the NOTCH3 gene. GOM have been shown to contain NOTCH3 ectodomain (NOTCH3ECD) and extracellular matrix proteins, and can be visualized ultrastructurally in the tunica media of small arteries and capillaries. These electron dense GOM deposits are located in the basement membrane of mural cells, i.e. vascular smooth muscle cells and pericytes. In both manifest and pre-manifest CADASIL patients, GOM deposits are present not only in brain vessels, but also in vessels of other organs, such as the skin.|HPO|N|
C1859844|RPE65-related Leber congenital amaurosis / early-onset severe retinal dystrophy (RPE65-LCA/EOSRD) is a severe inherited retinal degeneration (IRD) with a typical presentation between birth and age five years. While central vision varies, the hallmark of this disorder is the presence of severe visual impairment with a deceptively preserved retinal structure. Vision is relatively stable in the first decade of life, but begins to decline in adolescence. Most affected individuals are legally blind (visual acuity 20/200 and/or visual fields extending <20 degrees from fixation) by age 20 years. After age 20 years, visual acuity declines further and by the fourth decade all affected individuals are legally blind and many have complete loss of vision (i.e., no light perception). Milder disease phenotypes have been described in individuals with hypomorphic alleles.|GeneReviews|N|
C1859846|Truncal obesity with onset during childhood, defined as between 2 and 10 years of age.|HPO|N|
C1859860|Intermittent episodes of ketoacidosis.|HPO|N|
C1859877|Alopecia universalis congenita (ALUNC) is a severe autosomal recessive form of alopecia characterized by a complete absence of hair development affecting all scalp and body hair (Nothen et al., 1998).
This rare disorder is clearly distinct from alopecia areata (AA1; 104000), which has an autoimmune basis with probable genetic predisposition.|OMIM|N|
C1859878|Alopecia-intellectual disability syndrome (APMR) is a rare autosomal recessive disorder in which affected individuals show loss of hair on the scalp, absence of eyebrows, eyelashes, and axillary and pubic hair, and mildly to severely impaired intellectual development (summary by Wali et al., 2007).
Genetic Heterogeneity of Alopecia-Intellectual Disability Syndrome
Loci for alopecia-intellectual disability syndrome have been mapped to chromosome 3q26.2-q26.31 (APMR2; 610422) and chromosome 18q11.2-q12.2 (APMR3; 613930). APMR4 (618840) is caused by mutation in the LSS gene (600909) on chromosome 21q22.|OMIM|N|
C1859896|The progressive development of an abnormally large skull.|HPO|N|
C1859910|A very rare syndrome associating microcephaly, micrognathia, oculocutaneous albinism, hypoplasia of the distal phalanx of fingers and agenesia of the distal end of the right big toe. It has been described in two siblings. Both brother and sister had psychomotor retardation and died in the course of a respiratory infection. The reported cases suggest that the condition is hereditary, and is transmitted as an autosomal recessive trait.|SNOMEDCT_US|N|
C1859918|Lack of platelet dense granules, a type of platelet organelles.|HPO|N|
C1859964|A very rare dysmorphic disorder characterized by hypoplasia and coloboma of the alar cartilages and telecanthus described in 2 sisters. No new cases with similar features have been reported since 1976.|ORDO|N|
C1859965|Syndrome with the association of microcephaly, low birth weight and severe intellectual deficit with dwarfism, small teeth and diabetes mellitus. Two cases have been described. Biochemical tests reveal the presence of high levels of alanine in the urine and elevated alanine, pyruvate and lactate levels in the blood.|SNOMEDCT_US|N|
C1859966|ELANE-related neutropenia includes congenital neutropenia and cyclic neutropenia, both of which are primary hematologic disorders characterized by recurrent fever, skin and oropharyngeal inflammation (i.e., mouth ulcers, gingivitis, sinusitis, and pharyngitis), and cervical adenopathy. Infectious complications are generally more severe in congenital neutropenia than in cyclic neutropenia. In congenital neutropenia, omphalitis immediately after birth may be the first sign; in untreated children diarrhea, pneumonia, and deep abscesses in the liver, lungs, and subcutaneous tissues are common in the first year of life. After 15 years with granulocyte colony-stimulating factor treatment, the risk of developing myelodysplasia (MDS) or acute myelogenous leukemia (AML) is approximately 15%-25%. Cyclic neutropenia is usually diagnosed within the first year of life based on approximately three-week intervals of fever and oral ulcerations and regular oscillations of blood cell counts. Cellulitis, especially perianal cellulitis, is common during neutropenic periods. Between neutropenic periods, affected individuals are generally healthy. Symptoms improve in adulthood. Cyclic neutropenia is not associated with risk of malignancy or conversion to leukemia.|GeneReviews|N|
C1859967|PAGOD syndrome is a severe developmental syndrome with characteristics of multiple congenital anomalies including cardiovascular defects, pulmonary hypoplasia, diaphragmatic defects and genital anomalies. Since the first publication in 1991, only 11 patients have been described. Neonates with PAGOD syndrome present with several visceral anomalies: hypoplasia of right or left lung, diaphragmatic hernia, omphalocele, various cardiac anomalies including, amongst others atrial septal defect, left ventricular hypoplasia or ventricular septal defect and great vessels anomalies such as aortic hypoplasia and pulmonary artery hypoplasia or atresia. Cardiac and mediastinal structures may be in dextroposition. Ambiguous external genitalia can be observed in some cases and all present gonadal agenesis or hypoplasia and developmental anomalies of Wolffian and Mullerian duct structures. Vitamin A deficiency has been suggested to play a role in the development of the syndrome. Almost all cases are sporadic.|SNOMEDCT_US|N|
C1859969|Congenital defect with failure of the development of the cerebral white matter.|HPO|N|
C1859972|Adrenocortical carcinoma (ADCC) is a rare but aggressive childhood tumor, representing about 0.4% of childhood tumors, with a high incidence of associated tumors. ADCC occurs with increased frequency in patients with the Beckwith-Wiedemann syndrome (130650) and is a component tumor in Li-Fraumeni syndrome (LFS; 151623).|OMIM|N|
C1859978|Familial adrenal hypoplasia with absent pituitary luteinizing hormone is a rare endocrine disease characterized by a miniature adult type of congenital adrenal hypoplasia (residual adrenal cortex is composed of a small amount of permanent adult cortex with normal structural organization), selective absence of pituitary luteinizing hormone in otherwise normal brain, and neonatal demise. Patients present with hypogonadotropic hypogonadism, hypoglycemia, seizures, encephalopathy and diabetes insipidus. There have been no further descriptions in the literature since 1988.|ORDO|N|
C1859979|The onset of puberty before the age of 9 years in boys.|HPO|N|
C1859995|21-hydroxylase deficiency is an inherited disorder that affects the adrenal glands. The adrenal glands are located on top of the kidneys and produce a variety of hormones that regulate many essential functions in the body. In people with 21-hydroxylase deficiency, the adrenal glands produce excess androgens, which are male sex hormones.\n\nThere are three types of 21-hydroxylase deficiency. Two types are classic forms, known as the salt-wasting and simple virilizing types. The third type is called the non-classic type. The salt-wasting type is the most severe, the simple virilizing type is less severe, and the non-classic type is the least severe form.\n\nMales and females with either classic form of 21-hydroxylase deficiency tend to have an early growth spurt, but their final adult height is usually shorter than others in their family. Additionally, affected individuals may have a reduced ability to have biological children (decreased fertility). Females may also develop excessive body hair growth (hirsutism), male pattern baldness, and irregular menstruation.\n\nApproximately 75 percent of individuals with classic 21-hydroxylase deficiency have the salt-wasting type. Hormone production is extremely low in this form of the disorder. Affected individuals lose large amounts of sodium in their urine, which can be life-threatening in early infancy. Babies with the salt-wasting type can experience poor feeding, weight loss, dehydration, and vomiting. Individuals with the simple virilizing form do not experience salt loss.\n\nIn both the salt-wasting and simple virilizing forms of this disorder, females typically have external genitalia that do not look clearly male or female. Males usually have male-typical genitalia but the testes may be small.\n\nFemales with the non-classic type of 21-hydroxylase deficiency have female-typical genitalia. As affected females get older, they may experience hirsutism, male pattern baldness, irregular menstruation, and decreased fertility. Males with the non-classic type may have early beard growth and small testes. Some individuals with this type of 21-hydroxylase deficiency have no symptoms of the disorder.|MedlinePlus Genetics|N|
C1860042|Cytochrome P450 oxidoreductase deficiency (PORD) is a disorder of steroidogenesis with a broad phenotypic spectrum including cortisol deficiency, altered sex steroid synthesis, disorders of sex development (DSD), and skeletal malformations of the Antley-Bixler syndrome (ABS) phenotype. Cortisol deficiency is usually partial, with some baseline cortisol production but failure to mount an adequate cortisol response in stress. Mild mineralocorticoid excess can be present and causes arterial hypertension, usually presenting in young adulthood. Manifestations of altered sex steroid synthesis include ambiguous genitalia/DSD in both males and females, large ovarian cysts in females, poor masculinization and delayed puberty in males, and maternal virilization during pregnancy with an affected fetus. Skeletal malformations can manifest as craniosynostosis, mid-face retrusion with proptosis and choanal stenosis or atresia, low-set dysplastic ears with stenotic external auditory canals, hydrocephalus, radiohumeral synostosis, neonatal fractures, congenital bowing of the long bones, joint contractures, arachnodactyly, and clubfeet; other anomalies observed include urinary tract anomalies (renal pelvic dilatation, vesicoureteral reflux). Cognitive impairment is of minor concern and likely associated with the severity of malformations; studies of developmental outcomes are lacking.|GeneReviews|N|
C1860048|Prominence (bulging) in the temple region, which is the part of the skull where the frontal, parietal, temporal, and sphenoid bones join on the side of the head.|HPO|N|
C1860050|Trilobar skull configuration when viewed from the front or behind.|HPO|N|
C1860081|An increase in the level of medium chain dicarboxylic acid in the urine.|HPO|N|
C1860107|A bending or abnormal curvature of the distal portion of the femur.|HPO|N|
C1860118|A very rare congenital malformation syndrome with the association of facial and skeletal anomalies, severe intellectual deficit and occasional genitourinary anomalies. The cranio-facial malformations are numerous and variable and include brachycephaly or microbrachycephaly. Other skeletal malformations are also present, with syndactyly of fingers, hypoplastic toes, anomalies of feet structure and fibular hypoplasia. Short stature may be observed. Eye anomalies include bilateral ptosis, cataract and congenital glaucoma. In some male patients, hypospadias and bifid scrotum are reported. Patients suffer from potentially severe intellectual deficit and present with anomalies of the cortical gyration.|SNOMEDCT_US|N|
C1860119|A multiple malformation syndrome in which mandibulofacial dysostosis and severe limb reduction defects are associated with complex malformations of different organs and systems especially the central nervous system, urogenital tract, heart, and lungs. The mandibulofacial defect causes death by respiratory distress. Limb reduction is severe and includes shoulder and pelvis hypoplasia, phocomelia with humerus hypoplasia, absent radius and ulna, complete absence of long bones of the legs, and various hand anomalies, predominantly preaxial reduction. These infants also show facial dysmorphism and ear anomalies. The condition is a rare with an autosomal recessive mode of inheritance. The prognosis is poor and this condition leads to death in utero or shortly after birth.|SNOMEDCT_US|N|
C1860127|Abnormally reduced ability of T cells to perform their functions in cell-mediated immunity.|HPO|N|
C1860128|An increased susceptibility to candida infections, as manifested by a history of recurrent episodes of candida infections.|HPO|N|
C1860130|Abnormally reduced serum levels of alkaline phosphatase.|HPO|N|
C1860136|A morphologic finding indicating the presence of necrosis associated with an inflammatory infiltrate in a tissue sample.|NCI|N|
C1860145|A very rare form of acrofacial dysostosis, reported in two sisters to date, with characteristics of short stature, acrocephaly, ocular hypertelorism, ptosis of eyelids, ocular proptosis, downslanting palpebral fissures, high nasal bridge, anteverted nostrils, short philtrum, cleft palate, micrognathia, abnormal external ears, preauricular pits, mixed hearing loss, bulbous digits, metatarsus varus, pectus excavatum and various radiological abnormalities. Features of this syndrome were reported to overlap with otopalatodigital syndrome types 1 and 2. There have been no further descriptions in the literature since 1988.|SNOMEDCT_US|N|
C1860157|Elejalde neuroectodermal melanolysosomal syndrome is a rare autosomal recessive disorder characterized by silvery-gray hair and severe dysfunction of the central nervous system, present from infancy or early childhood and consisting of severe hypotonia, seizures, and impaired intellectual development. Skin may be hypopigmented with bronzing after sun exposure. Microscopy of hair reveals large granules of melanin unevenly distributed in the hair shaft. Abnormal melanocytes and melanosomes and abnormal inclusion bodies in fibroblasts may be present (Elejalde et al., 1979; Duran-McKinster et al., 1999).
It has been proposed that, in at least some cases, Elejalde neuroectodermal melanolysosomal syndrome and Griscelli syndrome type 1 (GS1; 214450) represent the same entity; see below. GS1 is caused by mutation in the MYO5A gene (160777).|OMIM|N|
C1860162|Partial duplication of the distal phalanx of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx) to a partially fused appearance of the two bones.|HPO|N|
C1860164|Partial or complete duplication of one or more phalanx of big toe.|HPO|N|
C1860165|Any defect in the valve connecting the heart and the pulmonary artery.|HPO|N|
C1860166|A very rare multiple congenital anomalies syndrome with characteristics of limb deficiencies and renal anomalies that include split hand-split foot malformation, renal agenesis, polycystic kidneys, uterine anomalies and severe mandibular hypoplasia.|SNOMEDCT_US|N|
C1860167|Ackerman syndrome has characteristics of pyramidal molar roots and taurodontism associated with variable anomalies. It has been described in two generations of one family. Both parents and their six siblings had pyramidal, taurodont or fused molar roots. Some of the patients also had hypotrichosis, an abnormal upper lip, thickened and wide philtrum, and/or juvenile glaucoma. Other features included entropion of the eyelid, syndactyly and clinodactyly of the fifth fingers.|SNOMEDCT_US|N|
C1860168|An extremely rare type of severe combined immunodeficiency syndrome (SCID) characterized by the classical signs of T-B- SCID (severe and recurrent infections, diarrhea, failure to thrive, absence of T and B lymphocytes) associated with skeletal anomalies like short stature, bowing of the long bones and metaphyseal abnormalities of variable degree of severity.|SNOMEDCT_US|N|
C1860182|Absence or underdevelopment of the metatarsal bones.|HPO|N|
C1860191|A lack of bone mineralization of the vertebral bodies.|HPO|N|
C1860202|A lack of ossification of the vertebral bodies.|HPO|N|
C1860212|An extremely rare genetic syndrome, reported in a few families to date with characteristics of the association of microcephaly, intellectual deficit and achalasia. Symptoms of achalasia include coughing, dysphagia, vomiting, failure to thrive and aspiration appearing in infancy/early-childhood.|SNOMEDCT_US|N|
C1860213|Achalasia is a primary motor disorder of the esophagus. It is characterized by aperistalsis and a failure of the lower esophageal sphincter to relax due to a loss of inhibitory nitrinergic neurons in the esophageal myenteric plexus. Patients typically present with dysphagia, regurgitation, retrosternal pain, and substantial weight loss (summary by Farrokhi and Vaezi, 2007 and Gockel et al., 2010).|OMIM|N|
C1860215|This syndrome is characterised by the association of acanthosis nigricans, insulin resistance, severe muscle cramps and acral hypertrophy.|ORDO|N|
C1860219|Uncontrolled movements result in tissue damage to the tongue and lips.|HPO|N|
C1860224|Ablepharon-macrostomia syndrome (AMS) is a congenital ectodermal dysplasia characterized by absent eyelids, macrostomia, microtia, redundant skin, sparse hair, dysmorphic nose and ears, variable abnormalities of the nipples, genitalia, fingers, and hands, largely normal intellectual and motor development, and poor growth (summary by Marchegiani et al., 2015).|OMIM|N|
C1860238|Woolly hair (WH) refers to a group of hair shaft disorders that are characterized by fine and tightly curled hair. Compared to normal curly hair that is observed in some populations, WH grows slowly and stops growing after a few inches. Under light microscopy, WH shows some structural anomalies, including trichorrhexis nodosa and tapered ends. WH can appear as part of several syndromes, such as Naxos disease (601214) and cardiofaciocutaneous syndrome (115150) (summary by Petukhova et al., 2009).
See 278150 for a discussion of genetic heterogeneity of autosomal recessive woolly hair.|OMIM|N|
C1860243|Any anomaly in the formation of the bony substance of the sternum.|HPO|N|
C1860244|A deviation from the normal rotation of the midgut during embryologic development with mislocalization of the small bowel.|HPO|N|
C1860245|Asymmetry of the bones of the skull.|HPO|N|
C1860247|Forward protrusion of the glabella.|HPO|N|
C1860253|A pseudoepiphysis is a secondary ossification center distinct from the normal epiphysis. The normal metacarpal epiphyses are located at the distal ends of the metacarpal bones. Accessory epiphyses (which are also known as pseudoepiphyses) can also occasionally be observed at the proximal ends of the metacarpals, usually involving the 2nd metacarpal bone.|HPO|N|
C1860256|Decreased density/number and/or decreased diameter of medial eyebrow hairs.|HPO|N|
C1860309|H-shaped crease in the fat pad of the chin.|HPO|N|
C1860315|DYT4 type primary dystonia has characteristics of predominantly laryngeal dystonia (manifesting as whispering dysphonia) and cervical dystonia (manifesting as torticollis). So far, the disease has been reported in one large Australian family. The age of onset varies from 13 to 37 years. The locus for DYT4 remains unknown. The disease is transmitted in an autosomal dominant manner.|SNOMEDCT_US|N|
C1860334|The presence of pigmented, oval and dome-shaped raised hamartomatous nevi of the iris..|HPO|N|
C1860335|The presence in the axillary region (armpit) of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin.|HPO|N|
C1860336|A cardiovascular malformation associated with narrowing of the outflow tract of the right ventricle immediately at the level of the pulmonary valve.|HPO|N|
C1860339|Waardenburg syndrome type 2 (WS2) is an autosomal dominant auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes; congenital sensorineural hearing loss; and the absence of 'dystopia canthorum,' the lateral displacement of the ocular inner canthi, which is seen in some other forms of WS (reviews by Read and Newton, 1997 and Pingault et al., 2010).
Clinical Variability of Waardenburg Syndrome Types 1-4
Waardenburg syndrome has been classified into 4 main phenotypes. Waardenburg syndrome type 1 (WS1; 193500) is characterized by pigmentary abnormalities of the hair, including a white forelock and premature graying; pigmentary changes of the iris, such as heterochromia iridis and brilliant blue eyes; congenital sensorineural hearing loss; and 'dystopia canthorum.' WS type 2 (WS2) is distinguished from type 1 by the absence of dystopia canthorum. WS type 3 (WS3; 148820) has dystopia canthorum and is distinguished by the presence of upper limb abnormalities. WS type 4 (WS4; 277580), also known as Waardenburg-Shah syndrome, has the additional feature of Hirschsprung disease (reviews by Read and Newton, 1997 and Pingault et al., 2010).
Genetic Heterogeneity of Waardenburg Syndrome Type 2
Waardenburg syndrome type 2 is a genetically heterogeneous disorder. WS2B (600193) has been mapped to chromosome 1p. WS2C (606662) has been mapped to chromosome 8p23. WS2E (611584) is caused by mutation in the SOX10 gene (602229) on chromosome 22q13. WS2F (619947) is caused by mutation in the KITLG gene (184745) on chromosome 12q21.
A form of WS2, designated WS2D, was thought to be caused by deletion of the SNAI2 gene (602150.0001), but the deletion has been reclassified as a variant of unknown significance.|OMIM|N|
C1860344|Underdevelopment of the stroma of iris.|HPO|N|
C1860392|A rare hemangioblastoma that arises from the kidney.|NCI|N|
C1860403|A rare hereditary disorder with the combination of congenital bilateral recurrent laryngeal nerve paralysis and congenital bilateral ptosis. There have been no further descriptions in the literature since 1983.|SNOMEDCT_US|N|
C1860405|The appearance of yellow/white crystalline-like (hence the name) spots in the retina and thickening of the peripheral part of the vitreous.|HPO|N|
C1860449|Abnormal plantar flexion of the calcaneus relative to the longitudinal axis of the tibia. This results in the angle between the long axis of the tibia and the long axis of the heel bone (calcaneus) being greater than 90 degrees.|HPO|N|
C1860450|This is a postural deformity in which the foot is positioned up against the tibia. The heel (calcaneus) is positioned downward (that is, the ankle is flexed upward), and the heel is turned outward (valgus).|HPO|N|
C1860464|A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.|ORDO|N|
C1860471|This syndrome is characterized by cardiac arrhythmias (ventricular extrasystoles manifesting as bigeminy or multifocal tachycardia with syncopal episodes), perodactyly (hypoplasia and/or agenesis of the distal phalanges of the toes) and Pierre-Robin sequence (see this term).|ORDO|N|
C1860475|The presence of an increased number of twists and turns of the retinal blood vessels.|HPO|N|
C1860488|An abnormality of an internal carotid artery.|HPO|N|
C1860493|An anomaly of the sternum, also known as the breastbone.|HPO|N|
C1860518|Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (RVCL-S) is a small-vessel disease that affects highly vascularized tissues including the retina, brain, liver, and kidneys. Age of onset is often between 35 and 50 years. The most common presenting finding is decreased visual acuity and/or visual field defects. Neurologic manifestations may include hemiparesis, facial weakness, aphasia, and hemianopsia. Migraines and seizures are less frequently described. Renal manifestations may include mild-to-moderate increase in serum creatinine and mild proteinuria; progression to end-stage renal disease (ESRD) is uncommon. Hepatic manifestations frequently include mildly elevated levels of alkaline phosphatase and gamma-glutamyltransferase (GGT). Less common findings include psychiatric disorders, hypertension, mild-to-moderate anemia, and Raynaud phenomenon.|GeneReviews|N|
C1860519|Lymphocytic vasculitis is one of several skin conditions which are collectively referred to as cutaneous vasculitis. In lymphocytic vasculitis, white blood cells (lymphocytes) cause damage to blood vessels in the skin. This condition is thought to be caused by a number of factors, but the exact cause of most cases is not known. This disease can present with a variety of symptoms, depending on the size, location, and severity of the affected area. In a minority of patients, cutaneous vasculitis can be part of a more severe vasculitis affecting other organs in the body - this is known as systemic vasculitis.|MONDO|N|
C1860549|A rare congenital urogenital anomaly characterized by the presence of double uterus (didelphys, bicornuate or septum-complete or partial), unilateral cervico-vaginal obstruction (obstructed hemivagina-communicant, not communicant or septate and unilateral cervical atresia) and ipsilateral renal anomalies (renal agenesis and/or other urinary tract anomalies). Patients are usually diagnosed at puberty after menarche due to recurrent severe dysmenorrhea, chronic pelvic pain, excessive foul smelling mucopurulent discharge, spotting and intermenstrual bleeding (depending on the existence of uterine or vaginal communications). Fever, dyspareunia, and a palpable abdominal, pelvic or vaginal mass (mucocolpos or pyocolpos) may also be present.|ORDO|N|
C1860596|Upington disease has characteristics of Perthes-like pelvic anomalies (premature closure of the capital femoral epiphyses and widened femoral necks with flattened femoral heads), enchondromata and ecchondromata. It has been described in siblings from three generations of one family. Transmission is autosomal dominant.|SNOMEDCT_US|N|
C1860601|An abnormally flattened femoral head.|HPO|N|
C1860605|An autosomal dominant ectodermal dysplasia syndrome, with characteristics of uncombable hair syndrome, congenital hypotrichosis and dental abnormalities such as oligodontia or hyperdontia and associated with early-onset cataract, retinal pigmentary dystrophy and brachydactyly with brachymetacarpia. Furthermore, hyperactivity and a mild intellectual deficit have been reported in affected patients.|SNOMEDCT_US|N|
C1860606|Congenital hypoplasia of one or more proximal phalanx of finger.|HPO|N|
C1860607|Hair that is disorderly, stands out from the scalp, and cannot be combed flat.|HPO|N|
C1860608|A characteristic triangular, kidney- or heat-shaped diameter of hair shafts with typical longitudinal canalicular deformation as observable by scanning electron microscopy.|HPO|N|
C1860614|Underdevelopment of the ulna.|HPO|N|
C1860615|Ulna metaphyseal dysplasia syndrome is a rare primary bone dysplasia characterized by dysplasia of the distal ulnar metaphyses, as well as metacarpal/metatarsal dysplasia and metaphyseal changes resembling enchondromata. Patients usually present bony swelling of the wrists with or without pain (knees and ankles may also be affected). Other variably associated features include platyspondyly, skeletal development delay, short stature and coxa valga.|ORDO|N|
C1860616|Disproportionate short stature present from birth with dysplasia of the ulna and fibula. Curvatures of the forearm, radial head luxation, and tibial anomalies have also been described. The syndrome is transmitted in an autosomal dominant manner.|SNOMEDCT_US|N|
C1860646|Tune deafness, or congenital amusia, is a lifelong deficient in music perception that cannot be explained by hearing loss, brain damage, intellectual deficiencies, or lack of exposure. The disorder affects predominantly the melodic pitch dimension (summary by Peretz et al., 2009).
See 159300 for an opposite situation, that of musical perfect pitch.|OMIM|N|
C1860707|Tuberous sclerosis complex (TSC) involves abnormalities of the skin (hypomelanotic macules, confetti skin lesions, facial angiofibromas, shagreen patches, fibrous cephalic plaques, ungual fibromas); brain (subependymal nodules, cortical tubers, and subependymal giant cell astrocytomas [SEGAs], seizures, intellectual disability / developmental delay, psychiatric illness); kidney (angiomyolipomas, cysts, renal cell carcinomas); heart (rhabdomyomas, arrhythmias); and lungs (lymphangioleiomyomatosis [LAM], multifocal micronodular pneumonocyte hyperplasia). Central nervous system tumors are the leading cause of morbidity and mortality; renal disease is the second leading cause of early death.|GeneReviews|N|
C1860710|Areas of the retina lacking pigmentation. Punched out areas of chorioretinal hypopigmentation less than 1 disk diameter in size and tending to be located in the midperiphery of the retina.|HPO|N|
C1860711|The presence of small depressions in the dental enamel.|HPO|N|
C1860752|Hypertrophic cardiomyopathy is a heart condition characterized by thickening (hypertrophy) of the heart (cardiac) muscle. When multiple members of a family  have the condition, it is known as familial hypertrophic cardiomyopathy. Hypertrophic cardiomyopathy also occurs in people with no family history; these cases are considered nonfamilial hypertrophic cardiomyopathy. \n\nIn familial hypertrophic cardiomyopathy, cardiac thickening usually occurs in the interventricular septum, which is the muscular wall that separates the lower left chamber of the heart (the left ventricle) from the lower right chamber (the right ventricle). In some people, thickening of the interventricular septum impedes the flow of oxygen-rich blood from the heart, which may lead to an abnormal heart sound during a heartbeat (heart murmur) and other signs and symptoms of the condition. Other affected individuals do not have physical obstruction of blood flow, but the pumping of blood is less efficient, which can also lead to symptoms of the condition. Familial hypertrophic cardiomyopathy often begins in adolescence or young adulthood, although it can develop at any time throughout life.\n\nNonfamilial hypertrophic cardiomyopathy tends to be milder. This form typically begins later in life than familial hypertrophic cardiomyopathy, and affected individuals have a lower risk of serious cardiac events and sudden death than people with the familial form.\n\nThe symptoms of familial hypertrophic cardiomyopathy are variable, even within the same family. Many affected individuals have no symptoms. Other people with familial hypertrophic cardiomyopathy may experience chest pain; shortness of breath, especially with physical exertion; a sensation of fluttering or pounding in the chest (palpitations); lightheadedness; dizziness; and fainting.\n\nWhile most people with familial hypertrophic cardiomyopathy are symptom-free or have only mild symptoms, this condition can have serious consequences. It can cause abnormal heart rhythms (arrhythmias) that may be life threatening. People with familial hypertrophic cardiomyopathy have an increased risk of sudden death, even if they have no other symptoms of the condition. A small number of affected individuals develop potentially fatal heart failure, which may require heart transplantation.|MedlinePlus Genetics|N|
C1860773|An extremely rare familial bone deformity described only in Japanese patients to date. The deformity is bilateral in nearly half of patients (with bilateral involvement, the condition is symmetrical) and sometimes causes ulnar nerve palsy or cubitus varus.|SNOMEDCT_US|N|
C1860804|This syndrome has characteristics of triphalangeal thumbs and brachydactyly of the hands. Ectrodactyly of the feet and, more rarely, ectrodactyly of the hands were also reported in some family members. Transmission is autosomal dominant.|SNOMEDCT_US|N|
C1860805|Say-Field-Coldwell syndrome is characterized by triphalangeal thumbs, brachydactyly, camptodactyly, recurrent dislocation of the patellas and relatively short stature. It has been described in a mother and her three daughters.|MONDO|N|
C1860808|Triosephosphate isomerase deficiency (TPID) is an autosomal recessive multisystem disorder characterized by congenital hemolytic anemia, and progressive neuromuscular dysfunction beginning in early childhood. Many patients die from respiratory failure in childhood. The neurologic syndrome is variable, but usually includes lower motor neuron dysfunction with hypotonia, muscle weakness and atrophy, and hyporeflexia. Some patients may show additional signs such as dystonic posturing and/or spasticity. Laboratory studies show intracellular accumulation of dihydroxyacetone phosphate (DHAP), particularly in red blood cells (summary by Fermo et al., 2010).|OMIM|N|
C1860816|A rudimentary tag of skin often containing ear tissue including a core of cartilage and located just anterior to the auricle (outer part of the ear).|HPO|N|
C1860819|Premature fusion of the metopic suture.|HPO|N|
C1860822|Trichodysplasia-xeroderma syndrome is an extremely rare, syndromic hair shaft anomaly characterized by sparse, coarse, brittle, excessively dry and slow-growing scalp hair, sparse axillary and pubic hair, sparse or absent eyelashes and eyebrows and dry skin. Hair shaft analysis shows pili torti, longitudinal splitting, grooves, peeling and scaling. There have been no further descriptions in the literature since 1987.|ORDO|N|
C1860823|Trichorhinophalangeal syndrome (TRPS) is characterized by craniofacial and skeletal abnormalities. Craniofacial features include sparse, slowly growing scalp hair, laterally sparse eyebrows, a bulbous tip of the nose, protruding ears, long flat philtrum, and thin upper vermillion border. The most typical radiographic findings in TRPS are cone-shaped epiphyses, predominantly at the middle phalanges. Hip malformations such as coxa plana, coxa magna, or coxa vara are present in over 70% of patients. In older patients, the hip abnormalities resemble degenerative arthrosis. TRPS3 differs from TRPS1 by the presence of severe brachydactyly, due to short metacarpals, and severe short stature (summary by Ludecke et al., 2001).|OMIM|N|
C1860826|Widening of the femoral head and neck.|HPO|N|
C1860834|Muscular hypotonia (abnormally low muscle tone) manifesting in infancy.|HPO|N|
C1860850|Familial multiple discoid fibromas (FMDF) is an autosomal dominant dermatologic condition characterized by the appearance of multiple skin-colored, firm, flat or dome-shaped papules on the pinnae and the central area of the face in childhood or adolescence. Most lesions show a hair at or just outside the periphery, and many have a telangiectatic surface (summary by Starink et al., 2012).
Trichodiscoma, as this lesion was first described by Pinkus et al. (1974), is a small benign fibrovascular tumor of the dermal part of the hair disc. The hair disc is a richly vascularized dermal pad in close association with a hair. It is supplied by a thick myelinated nerve and is considered to be a slow-adapting mechanoreceptor. Trichodiscomas are small, flat or dome-shaped, skin-colored, firm papules with a telangiectatic surface. Many of the lesions show a hair at the periphery or just outside it. Starink et al. (2012) renamed the lesion 'discoid fibroma' as a clarification of the histologic findings.
FMDF is similar to, but histologically and genetically distinct from, Birt-Hogg-Dube syndrome (BHD; 135150), which is characterized by fibrofolliculomas as well as renal and pulmonary cysts.|OMIM|N|
C1860855|Absence of the spongy bone structure (or tissue) of the internal part of the skull cap (i.e., of the calvarial diploe).|HPO|N|
C1860860|A rare hyperkinetic movement disorder with characteristics of mild to severe, progressive essential tremor, nystagmus (principally horizontal), duodenal ulceration and a narcolepsy-like sleep disturbance. Refractive errors and cerebellar signs such as gait ataxia and adiadochokinesia may be associated. There have been no further descriptions in the literature since 1976.|SNOMEDCT_US|N|
C1860861|Essential tremor may be the most common human movement disorder. The main feature of essential tremor is postural tremor of the arms, but the head, legs, trunk, voice, jaw, and facial muscles also may be involved. Aggravated by emotions, hunger, fatigue, and temperature extremes, the condition may cause a functional disability or even incapacitation. Autosomal dominant inheritance can be demonstrated in most families (summary by Higgins et al., 1997).
Deng et al. (2007) provided a detailed review of the genetics of essential tremor.
Genetic Heterogeneity of Essential Tremor
Other forms of hereditary essential tremor include ETM2 (602134), mapped to chromosome 2p25-p22; ETM3 (611456), mapped to chromosome 6p23; ETM4 (614782), caused by mutation in the FUS gene (137070) on chromosome 16p11; ETM5 (616736), caused by mutation in the TENM4 gene (610084) on chromosome 11q14; and ETM6 (618866), caused by mutation in the NOTCH2NLC gene (618025) on chromosome 1q21.|OMIM|N|
C1860896|Any hereditary nonpolyposis colon cancer in which the cause of the disease is a mutation in the TGFBR2 gene.|MONDO|N|
C1860972|Geniospasm is characterized by spontaneous intermittent involuntary quivering or trembling of the chin that is intensified by stress or anxiety. The movements are first noticed in infancy or childhood and usually abate by late adulthood (Wadlington, 1958; Danek et al., 1991).|OMIM|N|
C1860991|Noonan syndrome (NS) is characterized by characteristic facies, short stature, congenital heart defect, and developmental delay of variable degree. Other findings can include broad or webbed neck, unusual chest shape with superior pectus carinatum and inferior pectus excavatum, cryptorchidism, varied coagulation defects, lymphatic dysplasias, and ocular abnormalities. Although birth length is usually normal, final adult height approaches the lower limit of normal. Congenital heart disease occurs in 50%-80% of individuals. Pulmonary valve stenosis, often with dysplasia, is the most common heart defect and is found in 20%-50% of individuals. Hypertrophic cardiomyopathy, found in 20%-30% of individuals, may be present at birth or develop in infancy or childhood. Other structural defects include atrial and ventricular septal defects, branch pulmonary artery stenosis, and tetralogy of Fallot. Up to one fourth of affected individuals have mild intellectual disability, and language impairments in general are more common in NS than in the general population.|GeneReviews|N|
C1861044|Torus palatinus (TP) is a spindle-shaped bony elevation along the midline of the hard palate. Torus mandibularis (TM) is a bony elevation along the mandible generally just below the lower premolars. Both exostoses usually appear in the form of a series of swellings (summary by Suzuki and Sakai, 1960).|OMIM|N|
C1861063|An inherited susceptibility or predisposition to developing nicotine dependence.|MONDO|N|
C1861065|Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TTN gene.|MONDO|N|
C1861097|Tibial torsion (twisting of the tibia) can cause toeing in or out, depending on whether it is internal or external torsion. Although some degree of internal tibial torsion is present in almost all infants because of the intrauterine position, it usually corrects spontaneously. Persistence of internal tibial torsion may be inherited as an autosomal dominant trait (summary by Fitch, 1974).|OMIM|N|
C1861098|Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome is a rare, genetic dysostosis syndrome, with marked inter- and intra-familial variation, typically characterized by triphalangeal thumbs, hand and/or foot polysyndactyly and/or absent/hypoplastic tibiae (associated with duplication of fibulae in some cases), although isolated triphalangeal thumbs have also been reported. It is often accompanied with remarkable short stature and additional features may include radio-ulnar synostosis and hand oligodactyly, as well as abnormal carpal and metatarsal bones.|ORDO|N|
C1861141|An abnormality of the middle ear.|HPO|N|
C1861166|A rare, genetic, congenital limb malformation syndrome characterized by bilateral thumb ankylosis, type A brachydactyly and mild to moderate intellectual disability. Patients present thumb stiffness and abnormalities of the metacarpal bones, frequently associated with mild facial dysmorphism and signs of obesity. There have been no further descriptions in the literature since 1990.|ORDO|N|
C1861168|Thumb deformity-alopecia-pigmentation anomaly syndrome is a rare, genetic, congenital limb malformation syndrome characterized by short stature, sparse scalp hair, hypoplastic, proximally-placed thumbs, and skin hyperpigmentation with areas of 'raindrop' depigmentation. Presence of a single, upper central incisor has also been reported. There have been no further descriptions in the literature since 1988.|ORDO|N|
C1861171|Factor V Leiden thrombophilia is characterized by a poor anticoagulant response to activated protein C (APC) and an increased risk for venous thromboembolism (VTE). Deep vein thrombosis (DVT) is the most common VTE, with the legs being the most common site. Thrombosis in unusual locations is less common. Evidence suggests that heterozygosity for the Leiden variant has at most a modest effect on risk for recurrent thrombosis after initial treatment of a first VTE. It is unlikely that factor V Leiden thrombophilia (i.e., heterozygosity or homozygosity for the Leiden variant) is a major factor contributing to pregnancy loss and other adverse pregnancy outcomes (preeclampsia, fetal growth restriction, and placental abruption). The clinical expression of factor V Leiden thrombophilia is influenced by the following: The number of Leiden variants (heterozygotes have a slightly increased risk for venous thrombosis; homozygotes have a much greater thrombotic risk). Coexisting genetic thrombophilic disorders, which have a supra-additive effect on overall thrombotic risk. Acquired thrombophilic disorders: antiphospholipid antibody (APLA) syndrome, paroxysmal nocturnal hemoglobinuria, myeloproliferative disorders, and increased levels of clotting factors. Circumstantial risk factors including but not limited to pregnancy, central venous catheters, travel, combined oral contraceptive (COC) use and other combined contraceptives, oral hormone replacement therapy (HRT), selective estrogen receptor modulators (SERMs), obesity, leg injury, and advancing age.|GeneReviews|N|
C1861172|Occlusion of the lumen of a vein by a thrombus that has migrated from a distal site via the blood stream.|NCI|N|
C1861185|ANKRD26-related thrombocytopenia is characterized by lifelong mild-to-moderate thrombocytopenia with a normal platelet size and no syndromic associations. Most individuals have normal hemostasis or a mild bleeding phenotype and do not develop severe spontaneous bleeding. Some individuals may have concomitant erythrocytosis and leukocytosis. The risk for myeloid malignancies (including myelodysplastic syndrome, acute myelogenous leukemia, and chronic myelogenous leukemia) is increased in individuals with ANKRD26 pathogenic variants.|GeneReviews|N|
C1861194|Platelet-type bleeding disorder-17 is an autosomal dominant disorder characterized by increased bleeding tendency due to abnormal platelet function. It is a type of 'gray platelet syndrome' because the platelets appear abnormal on light microscopy. Electron microscopy shows decreased or absent alpha-granules within platelets, and bone marrow biopsy shows increased numbers of abnormal megakaryocytes, suggesting a defect in megakaryopoiesis and platelet production. The bleeding severity is variable (summary by Monteferrario et al., 2014).|OMIM|N|
C1861197|A short-rib dysplasia with characteristics of thoracic dystrophy, laryngeal stenosis and a small pelvis. Less than 10 cases have been reported in the literature so far. Patients present with severe respiratory distress (requiring intubation) during the neonatal period. The rib shortening is less severe than in Jeune syndrome and the thorax is characteristically small, narrow and bell-shaped. The pelvis is reduced in all dimensions and the combination of the thorax anomalies and the small pelvis give the appearance of a protruding abdomen. Subglottic stenosis has also been described but it remains unclear whether this is a congenital anomaly or is secondary to long-term intubation. Transmission is autosomal dominant.|SNOMEDCT_US|N|
C1861199|Irregular surface of the normally relatively smooth border between the distal part of the ribs and the costal cartilages, which are bars of hyaline cartilage that connect the ribs to the sternum.|HPO|N|
C1861217|An abnormal narrowing of the foramen magnum.|HPO|N|
C1861218|Underdevelopment of the ilium.|HPO|N|
C1861233|A rare genetic congenital limb malformation disorder with characteristics of the presence of a single digit on all four extremities. The malformation is typically isolated however, aplastic and hypoplastic defects in the remaining skeletal parts of hands and feet have been reported. There have been no further descriptions in the literature since 1992.|SNOMEDCT_US|N|
C1861237|Extensor tendons of finger anomalies is a rare, genetic, congenital limb malformation characterized by bilateral anomalous attachment of the extensor tendons of the four ulnar fingers. Attachment occurrs to the medial and lateral aspects of the middle phalanges leading to constant flexion in the midphalangeal joints and inability to extend the fingers. There have been no further descriptions in the literature since 1980.|ORDO|N|
C1861238|A rare genetic distal arthrogryposis syndrome with characteristics of plantar flexion contractures typically presenting with toe-walking in infancy, variably associated with milder contractures of the hip, elbow, wrist and finger joints. No ocular or neurological abnormalities are associated and serum creatine phosphokinase levels are normal.|SNOMEDCT_US|N|
C1861239|A type of contracture in which the plantar flexion muscles are contracted.|HPO|N|
C1861248|Telangiectasia (small dilated blood vessels) located in the fingerpads at the tips of the fingers.|HPO|N|
C1861305|Tarsal-carpal coalition syndrome is a rare, inherited bone disorder that affects primarily the hands and feet. Several individual bones make up each wrist (carpal bones) and ankle (tarsal bones). In tarsal-carpal coalition syndrome, the carpal bones fuse together, as do the tarsal bones, which causes stiffness and immobility of the hands and feet. Symptoms of the condition can become apparent in infancy, and they worsen with age. The severity of the symptoms can vary, even among members of the same family.\n\nIn this condition, fusion at the joints between the bones that make up each finger and toe (symphalangism) can also occur. Consequently, the fingers and toes become stiff and difficult to bend. Stiffness of the pinky fingers and toes (fifth digits) is usually noticeable first. The joints at the base of the pinky fingers and toes fuse first, and slowly, the other joints along the length of these digits may also be affected. Progressively, the bones in the fourth, third, and second digits (the ring finger, middle finger, and forefinger, and the corresponding toes) become fused. The thumb and big toe are usually not involved. Affected individuals have increasing trouble forming a fist, and walking often becomes painful and difficult. Occasionally, there is also fusion of bones in the upper and lower arm at the elbow joint (humeroradial fusion). Less common features of tarsal-carpal coalition syndrome include short stature or the development of hearing loss.|MedlinePlus Genetics|N|
C1861313|Liebenberg syndrome is an upper limb malformation characterized by the combination of dysplastic elbow joints and the fusion of wrist bones with consequent radial deviation (summary by Spielmann et al., 2012).|OMIM|N|
C1861324|Distance between nasal base and midline upper lip vermilion border more than 2 SD below the mean. Alternatively, an apparently decreased distance between nasal base and midline upper lip vermilion border.|HPO|N|
C1861325|A progressive type of conductive deafness.|HPO|N|
C1861326|Stapes ankylosis refers to congenital or acquired fixation of the stapes (the stirrup-shaped small bone or ossicle in the middle ear), which is associated with conductive hearing resulting from impairment of the sound-conduction mechanism (the external auditory canal, tympanic membrane, and/or middle-ear ossicles).|HPO|N|
C1861328|Underdevelopment of the nasal septum.|HPO|N|
C1861329|An abnormal narrowing of the spinal canal.|HPO|N|
C1861331|A limitation of the ability to place the forearm in a position such that the palm faces anteriorly (supination) and to place the forearm in a position such that the palm faces posteriorly (pronation).|HPO|N|
C1861336|Absence or underdevelopment of the distal phalanges.|HPO|N|
C1861339|Aplasia (absence) of the distal phalanges.|HPO|N|
C1861347|A rare, genetic, congenital limb malformation syndrome characterized by complete cutaneous syndactyly between toes 1-2, ulnar polydactyly (ranging from nubbins to an almost complete additional finger) and earlobe malformations. Additionally, abnormalities along the medial border of the foot are observed on X-ray imaging. There have been no further descriptions in the literature since 1976.|ORDO|N|
C1861348|A very rare congenital limb malformation with characteristics of postaxial syndactyly of hands and feet, associated with metacarpal and metatarsal fusion of fourth and fifth digits. So far, less than ten reports have been described in the literature. Soft tissue syndactyly (involving the third and fourth fingers and the second and third toes) may be present. The locus associated with SD5 maps to 2q31-q32. Mutations in the HOXD13 gene may be causative. The condition is inherited as an autosomal dominant trait.|SNOMEDCT_US|N|
C1861349|Absence of the distal interphalangeal flexion creases of the fingers.|HPO|N|
C1861355|Syndactyly type IV (SDTY4) is characterized by complete syndactylism of all the fingers accompanied by polydactyly and cup-shaped hands due to flexion of the fingers (summary by Sato et al., 2007).|OMIM|N|
C1861366|A rare congenital distal limb malformation with complete and bilateral syndactyly between the fourth and fifth fingers. In most cases, it is a soft tissue syndactyly, but occasionally the distal phalanges may be fused. The feet are not affected. Inherited in an autosomal dominant manner.|SNOMEDCT_US|N|
C1861373|Y-shaped metacarpals are the result of a partial fusion of two metacarpal bones, with the two arms of the Y pointing in the distal direction. Y-shaped metacarpals may be seen in combination with polydactyly.|HPO|N|
C1861380|A distal limb malformation with manifestation of complete or partial webbing between the third and fourth fingers and/or the second and third toes. Other digits may be involved occasionally. The phenotype varies widely within and between families, sometimes only the hands are affected and sometimes only the feet. Webbing between fingers may be associated with bony fusion of the distal phalanges. Inherited as an autosomal dominant trait.|SNOMEDCT_US|N|
C1861385|A very rare genetic bone disorder with characteristics of ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and conductive hearing loss in some patients.|SNOMEDCT_US|N|
C1861388|Short fifth metacarpal bone.|HPO|N|
C1861391|An exceedingly rare syndrome described in one family and with characteristics of proximal symphalangism and multiple hand and feet disorders (syndactyly, clinodactyly, hypoplasia of the thenar and hypothenar eminences and a distinctive dermatoglyphic pattern). There have been no further descriptions in the literature since 1981.|SNOMEDCT_US|N|
C1861395|Reduced muscle mass on the ulnar side of the palm, that is, reduction in size of the hypothenar eminence.|HPO|N|
C1861401|Distal symphalangism is ankylosis or rigidity of the distal interphalangeal joints of the hands and/or the feet (summary by Poush, 1991).|OMIM|N|
C1861443|Hemangioma, a benign tumor of the vascular endothelial cells, occurring in the face.|HPO|N|
C1861448|A multiple congenital anomalies syndrome with characteristics of wormian bones, dextrocardia and short stature due to a growth hormone deficiency. Additional manifestations that have been reported include brachycamptodactyly, kidney hypoplasia, bilateral cryptorchidism, midshaft hypospadias, imperforate anus/anorectal agenesis, body asymmetry, mild developmental delay, hemimegalencephaly and facial dysmorphism, such as hypotelorism, downslanting palpebral fissures, low-set and posteriorly angulated ears, depressed nasal bridge and microstomia.|SNOMEDCT_US|N|
C1861449|Strabismus, a misalignment of the eyes also referred to as 'squint,' is one of the most common ocular disorders in humans, affecting 1 to 4% of the population. It is frequently associated with amblyopia (uniocular visual neglect) (Parikh et al., 2003).
Strabismus is also a feature of several syndromes, including congenital fibrosis of extraocular muscles (see, e.g., CFEOM1; 135700), Duane retraction syndrome (126800), and chronic progressive external ophthalmoplegia with myopathy (530000).|OMIM|N|
C1861451|Stormorken syndrome is an autosomal dominant disorder characterized by mild bleeding tendency due to platelet dysfunction, thrombocytopenia, anemia, asplenia, tubular aggregate myopathy, congenital miosis, and ichthyosis. Additional features may include headache or recurrent stroke-like episodes (summary by Misceo et al., 2014).|OMIM|N|
C1861453|Cryohydrocytosis (CHC) is an exceedingly rare condition characterized by a mild stomatocytic hemolytic state with hyperbilirubinemia. A hallmark of this condition is that red blood cells (RBCs) lyse on storage at 4 degrees centigrade. RBC cation permeability is increased at 37 degrees centigrade, and the cells also accumulate sodium in the cold (summary by Coles et al., 1999). Patients present with fatigue, mild anemia, and pseudohyperkalemia due to a potassium leak from the RBCs (summary by Bogdanova et al., 2010).
For a discussion of clinical and genetic heterogeneity of the hereditary stomatocytoses, see 194380.|OMIM|N|
C1861455|Overhydrated hereditary stomatocytosis is a variably compensated macrocytic hemolytic anemia of fluctuating severity, characterized by circulating erythrocytes with slit-like lucencies (stomata) evident on peripheral blood smears. OHST red cells exhibit cation leak, resulting in elevated cell Na+ content with reduced K+ content, with increased ouabain-resistant cation leak fluxes in the presence of presumably compensatory increases in ouabain-sensitive Na(+)-K(+) ATPase activity, and red cell age-dependent loss of stomatin/EBP7.2 (EBP72; 133090) from the erythroid membrane. Clinically, patients with OHST exhibit overhydrated erythrocytes and a temperature-dependent red cell cation leak. The temperature dependence of the leak is 'monotonic' and has a steep slope, reflecting the very large leak at 37 degrees centigrade (summary by Bruce, 2009 and Stewart et al., 2011).
For a discussion of clinical and genetic heterogeneity of the hereditary stomatocytoses, see 194380.|OMIM|N|
C1861456|Stiff skin syndrome (SSKS) is characterized by hard, thick skin, usually over the entire body, which limits joint mobility and causes flexion contractures. Other occasional findings include lipodystrophy and muscle weakness (Loeys et al., 2010).
Patients with similar phenotypes involving stiff skin have been described; see, e.g., familial progressive scleroderma (181750), symmetric lipomatosis (151800), and congenital fascial dystrophy (228020).|OMIM|N|
C1861457|A rare stiff person syndrome spectrum disorder characterized by limb and truncal rigidity, stimulus-sensitive spasms, myoclonus, hyperekplexia, autonomic disturbance, and brainstem involvement or other neurological defects. The condition is progressive and potentially life-threatening, especially due to respiratory failure. It may be associated with the presence of glycine receptor or glutamic acid decarboxylase antibodies, as well as thymomas or lymphomas.|ORDO|N|
C1861460|Stiffness of the limbs (a condition in which muscles cannot be moved quickly without accompanying pain or spasm) occurring in the proximal limb muscle.|HPO|N|
C1861481|A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of craniofacial dysmorphism (midface hypoplasia, depressed nasal bridge, small nose with upturned tip, cleft palate, Pierre Robin sequence), bilateral, pronounced sensorineural hearing loss and skeletal/joint anomalies (including spondyloepiphyseal dysplasia, arthralgia/arthropathy), in the absence of ocular abnormalities. There is evidence the disease is caused by heterozygous mutation in the COL11A2 gene on chromosome 6p21.|SNOMEDCT_US|N|
C1861512|Rare syndrome with manifestation of progressive sensorineural hearing loss due to severe cochleosaccular degeneration and cataract. So far reported in two families. Transmission is autosomal dominant.|SNOMEDCT_US|N|
C1861513|The Headache Classification Committee of the International Headache Society (1988) listed the following criteria for cluster headache (CH): at least 5 attacks of severe unilateral orbital, supraorbital, and/or temporal pain, lasting 15 to 180 minutes, associated with at least 1 of 8 local autonomic signs, and occurring once every other day to 8 per day. Approximately 85% of CH patients have the episodic subtype, in which the headaches occur in cluster periods lasting from 7 days to 1 year and separated by attack-free intervals of 1 month or more. The remainder of patients have the chronic subtype, in which attacks recur for greater than 1 year without remission or with remissions lasting less than 1 month (Lipton et al., 2004).|OMIM|N|
C1861515|A rhizo-mesomelic dysplasia with characteristics of rhizomelic short stature in combination with lateral clavicular defects. Additional manifestations include brachydactyly with bilateral clinodactyly and hypoplastic middle phalanx of the fifth digit. The syndrome has been reported in one family (mother and son) and is suspected to be transmitted in an autosomal dominant manner. There have been no further descriptions in the literature since 1988.|SNOMEDCT_US|N|
C1861517|Increased range of shoulder movement related to aplasia or hypoplasia of the clavicles that results in the ability to approximate the shoulders in front of the chest.|HPO|N|
C1861519|A moderate degree of short stature, more than -3 SD but not more than -4 SD from mean corrected for age and sex.|HPO|N|
C1861536|An ectodermal dysplasia syndrome with the association of abnormalities of the eyelids, lips, and teeth. These anomalies include lower eyelid ectropion, upper eyelid distichiasis, euryblepharon, bilateral cleft lip and palate and conical teeth. Additional occasional features include hypertelorism, lagophthalmos, imperforate anus, and syndactyly. Prevalence is unknown. Over 50 cases have been described in literature to date. Transmission is autosomal dominant with 100% penetrance.|SNOMEDCT_US|N|
C1861537|Nonsyndromic cleft lip with or without cleft palate is a complex disease with a wide phenotypic spectrum ranging from notches of the vermilion and/or grooves in the philtrum to complete unilateral and bilateral clefts of the lip and palate (summary by Neiswanger et al., 2007).
Genetic Heterogeneity of Orofacial Cleft
Isolated cleft lip with or without cleft palate (CL/P) is genetically heterogeneous. The OFC1 locus has been mapped to chromosome 6p24. Other CL/P loci have been mapped to 2p13 (OFC2; 602966), 19q13 (OFC3; 600757), 4q (OFC4; 608371), 13q33.1-q34 (OFC9; 610361), 8q24.3 (OFC12; 612858), and 1p33 (OFC13; 613857).
OFC5 (608874) is caused by mutation in the MSX1 gene (142983) on 4p16; OFC6 (608864) is associated with variation in an enhancer of the IRF6 gene (607199) on 1q; OFC7 (see 225060) is associated with mutation in the NECTIN1 gene (600644) on 11q23; OFC8 (618149) is caused by mutation in the TP63 gene (603273) on 3q28; OFC10 (613705) is associated with haploinsufficiency of the SUMO1 gene (601912) on 2q33; OFC11 (600625) is caused by mutation in the BMP4 gene (112262) on 14q22; OFC14 (615892) is associated with a 273-kb deleted region on 1p31; and OFC15 (616788) is caused by mutation in the DLX4 gene (601911) on 17q21.
A common polymorphism in the MTR gene (156570.0008) has been associated with susceptibility to orofacial clefting. Cleft lip with or without cleft palate has been found in association with gastric cancer (see 137215) in individuals with mutation in the CDH1 gene (192090).|OMIM|N|
C1861544|Depression located on the vermilion of the lower lip, usually paramedian.|HPO|N|
C1861556|Cirrhosis in which no causative agent can be identified.|MONDO|N|
C1861558|Choroidal osteoma is a benign tumor found in the peripapillary region, most characteristically in one eye of otherwise healthy, young females. Histopathologic changes include bone formation with trabeculae, blood-filled cavernous spaces, and cells typical of bone formation, i.e., osteoblasts, osteocytes, and osteoclasts.|OMIM|N|
C1861627|Butterfly vertebrae have a cleft through the body of the vertebrae and a funnel shape at the ends.|HPO|N|
C1861669|Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome is a rare demyelinating hereditary motor and sensory neuropathy characterized by early-onset, slowly progressive, distal muscular weakness and atrophy with no sensory impairment, congenital sensorineural deafness and mild intellectual disability (with absence of normal speech development). The absence of large myelinated fibers on sural nerve biopsy is equally characteristic of the disease.|ORDO|N|
C1861675|Sudden and involuntary contractions of one or more muscles brought on by exposure to cold temperatures.|HPO|N|
C1861678|MFN2 hereditary motor and sensory neuropathy (MFN2-HMSN) is a classic axonal peripheral sensorimotor neuropathy, inherited in either an autosomal dominant (AD) manner (~90%) or an autosomal recessive (AR) manner (~10%). MFN2-HMSN is characterized by more severe involvement of the lower extremities than the upper extremities, distal upper-extremity involvement as the neuropathy progresses, more prominent motor deficits than sensory deficits, and normal (>42 m/s) or only slightly decreased nerve conduction velocities (NCVs). Postural tremor is common. Median onset is age 12 years in the AD form and age eight years in the AR form. The prevalence of optic atrophy is approximately 7% in the AD form and approximately 20% in the AR form.|GeneReviews|N|
C1861689|Klippel-Feil syndrome is a bone disorder characterized by the abnormal joining (fusion) of two or more spinal bones in the neck (cervical vertebrae). The vertebral fusion is present from birth. Three major features result from this vertebral fusion: a short neck, the resulting appearance of a low hairline at the back of the head, and a limited range of motion in the neck. Most affected people have one or two of these characteristic features. Less than half of all individuals with Klippel-Feil syndrome have all three classic features of this condition.\n\nIn people with Klippel-Feil syndrome, the fused vertebrae can limit the range of movement of the neck and back as well as lead to chronic headaches and muscle pain in the neck and back that range in severity. People with minimal bone involvement often have fewer problems compared to individuals with several vertebrae affected. The shortened neck can cause a slight difference in the size and shape of the right and left sides of the face (facial asymmetry). Trauma to the spine, such as a fall or car accident, can aggravate problems in the fused area. Fusion of the vertebrae can lead to nerve damage in the head, neck, or back. Over time, individuals with Klippel-Feil syndrome can develop a narrowing of the spinal canal (spinal stenosis) in the neck, which can compress and damage the spinal cord. Rarely, spinal nerve abnormalities may cause abnormal sensations or involuntary movements in people with Klippel-Feil syndrome. Affected individuals may develop a painful joint disorder called osteoarthritis around the areas of fused bone or experience painful involuntary tensing of the neck muscles (cervical dystonia). In addition to the fused cervical bones, people with this condition may have abnormalities in other vertebrae. Many people with Klippel-Feil syndrome have abnormal side-to-side curvature of the spine (scoliosis) due to malformation of the vertebrae; fusion of additional vertebrae below the neck may also occur.\n\nIn some cases, Klippel-Feil syndrome occurs as a feature of another disorder or syndrome, such as Wildervanck syndrome or hemifacial microsomia. In these instances, affected individuals have the signs and symptoms of both Klippel-Feil syndrome and the additional disorder.\n\nPeople with Klippel-Feil syndrome may have a wide variety of other features in addition to their spine abnormalities. Some people with this condition have hearing difficulties, eye abnormalities, an opening in the roof of the mouth (cleft palate), genitourinary problems such as abnormal kidneys or reproductive organs, heart abnormalities, or lung defects that can cause breathing problems. Affected individuals may have other skeletal defects including arms or legs of unequal length (limb length discrepancy), which can result in misalignment of the hips or knees. Additionally, the shoulder blades may be underdeveloped so that they sit abnormally high on the back, a condition called Sprengel deformity. Rarely, structural brain abnormalities or a type of birth defect that occurs during the development of the brain and spinal cord (neural tube defect) can occur in people with Klippel-Feil syndrome.|MedlinePlus Genetics|N|
C1861693|Dysplasia of the cervical vertebral column.|HPO|N|
C1861708|The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the calcaneus.|HPO|N|
C1861714|A sarcoma involving a telencephalon.|MONDO|N|
C1861732|Spinocerebellar ataxia-29 (SCA29) is an autosomal dominant neurologic disorder characterized by onset in infancy of delayed motor development and mild cognitive delay. Affected individuals develop a very slowly progressive or nonprogressive gait and limb ataxia associated with cerebellar atrophy on brain imaging. Additional variable features include nystagmus, dysarthria, and tremor (summary by Huang et al., 2012).
For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (164400).|OMIM|N|
C1861735|ITM2B-related cerebral amyloid angiopathy-2, also known as familial Danish dementia (FDD), is an autosomal dominant neurodegenerative disorder characterized by the progressive development of cataracts and other ocular disorders including ocular hemorrhages, hearing impairment, varying neurologic symptoms, and dementia, usually associated with paranoid reactions and temporal disturbance of consciousness. Most patients die in the fifth to sixth decade of life. Neuropathologic findings include severe widespread cerebral amyloid angiopathy, hippocampal plaques, and neurofibrillary tangles, similar to Alzheimer disease (see 104300) (summary by Vidal et al., 2000).|OMIM|N|
C1861736|Spinocerebellar ataxia type 31 (SCA31) is a very rare disease with manifestation of late-onset of cerebral ataxia, dysarthria, and horizontal gaze nystagmus, and that is occasionally accompanied by pyramidal signs, tremor, decreased vibration sense, and hearing difficulties. The mean age of disease onset is 58 years but it can present between the ages of 8 to 83 years. SCA31 is due to non-coding pentanucleotide repeat expansions in the brain expressed, associated with NEDD4, 1 (BEAN1) gene (16q21). Inherited autosomal dominantly with incomplete penetrance.|SNOMEDCT_US|N|
C1861783|Compression of the celiac artery.|HPO|N|
C1861808|A change in the amino acid residue at position 32 in the catenin beta-1 protein where aspartic acid has been replaced by tyrosine.|NCI|N|
C1861810|A change in the amino acid residue at position 32 in the catenin beta-1 protein where aspartic acid has been replaced by glycine.|NCI|N|
C1861811|A change in the amino acid residue at position 33 in the catenin beta-1 protein where serine has been replaced by phenylalanine.|NCI|N|
C1861813|A change in the amino acid residue at position 34 in the catenin beta-1 protein where glycine has been replaced by glutamic acid.|NCI|N|
C1861814|A change in the amino acid residue at position 37 in the catenin beta-1 protein where serine has been replaced by cysteine.|NCI|N|
C1861816|A change in the amino acid residue at position 41 in the catenin beta-1 protein where threonine has been replaced by isoleucine.|NCI|N|
C1861821|Zonular cataracts are defined to be cataracts that affect specific regions of the lens.|HPO|N|
C1861825|Mutations in the EPHA2 gene have been found to cause multiple types of cataract, which have been described as posterior polar, congenital total, complete, and age-related cortical.
The preferred title/symbol of this entry was formerly 'Cataract, posterior polar, 1; CTPP1,' and 'Cataract, Age-Related Cortical, 2; ARCC2' was formerly a distinct entry.|OMIM|N|
C1861828|Mutations in the GJA8 gene have been found to cause several types of autosomal dominant cataract, which have been described as congenital, zonular pulverulent, nuclear progressive, nuclear pulverulent, stellate nuclear, nuclear total, total, and posterior subcapsular. Cataract associated with microcornea, sometimes called the cataract-microcornea syndrome, is also caused by mutation in the GJA8 gene.
Before it was known that mutation in the GJB8 gene caused multiple types of cataract, this entry was titled 'Cataract, zonular pulverulent, 1,' with the symbols CZP1, CZP, and CAE1.|OMIM|N|
C1861829|The association of congenital cataract and microcornea without any other systemic anomaly or dysmorphism. Clinical findings include a corneal diameter inferior to 10 mm in both meridians in an otherwise normal eye, and an inherited cataract, which is most often bilateral posterior polar with opacification in the lens periphery. The cataract progresses to form a total cataract after visual maturity has been achieved, requiring cataract extraction in the first to third decade of life. The syndrome can be associated with other rare ocular manifestations, including myopia, iris coloboma, sclerocornea and Peters anomaly. Transmission is in most cases autosomal dominant, but cases of autosomal recessive transmission have recently been described. There is marked genetic heterogeneity. Mutations have been described in several crystallin genes (CRYAA, CRYBB1, CRYGD), and in the gap junction protein alpha 8 gene (GJA8).|SNOMEDCT_US|N|
C1861832|A kind of nuclear cataract characterized by fiberglasslike or needlelike crystals projecting in different directions, through or close to the axial region of the lens.|HPO|N|
C1861833|The Volkmann type of cataract has been variously described as progressive, central, or zonular, with opacities in the embryonic, fetal, and juvenile nucleus and around the anterior and posterior Y-suture. Expression is highly variable, ranging from hardly recognizable opacities in the lens to dense cataracts. Affected members may thus be unaware of having the disease (Eiberg et al., 1995).
The preferred title/symbol of this entry was formerly 'Cataract, Congenital, Volkmann Type; CCV.'|OMIM|N|
C1861835|Cataract-aberrant oral frenula-growth delay syndrome is characterized by cataracts and short stature associated with variable anomalies, including aberrant oral frenula, a characteristic facial appearance (posteriorly angulated ears, upslanting palpebral fissures, small nose, ptosis and epicanthal folds) cavernous hemangiomas and hernias. It has been described in a mother and her two children. It is transmitted as an autosomal dominant trait.|ORDO|N|
C1861848|Hereditary paraganglioma-pheochromocytoma (PGL/PCC) syndromes are characterized by paragangliomas (tumors that arise from neuroendocrine tissues distributed along the paravertebral axis from the base of the skull to the pelvis) and pheochromocytomas (paragangliomas that are confined to the adrenal medulla). Sympathetic paragangliomas cause catecholamine excess; parasympathetic paragangliomas are most often nonsecretory. Extra-adrenal parasympathetic paragangliomas are located predominantly in the skull base and neck (referred to as head and neck PGL [HNPGL]) and sometimes in the upper mediastinum; approximately 95% of such tumors are nonsecretory. In contrast, sympathetic extra-adrenal paragangliomas are generally confined to the lower mediastinum, abdomen, and pelvis, and are typically secretory. Pheochromocytomas, which arise from the adrenal medulla, typically lead to catecholamine excess. Symptoms of PGL/PCC result from either mass effects or catecholamine hypersecretion (e.g., sustained or paroxysmal elevations in blood pressure, headache, episodic profuse sweating, forceful palpitations, pallor, and apprehension or anxiety). The risk for developing metastatic disease is greater for extra-adrenal sympathetic paragangliomas than for pheochromocytomas.|GeneReviews|N|
C1861861|Restrictive cardiomyopathy (RCM) is a myocardial disease characterized by impaired ventricular filling and reduced diastolic volume in the presence of normal systolic function and normal or near-normal myocardial thickness. The disease is characterized by symptoms of progressive left- and right-sided heart failure. The overall prognosis is poor, especially when onset is in childhood, and patients often require cardiac transplantation (Mogensen et al., 2003).
Genetic Heterogeneity of Familial Restrictive Cardiomyopathy
Other forms of familial restrictive cardiomyopathy include RCM2 (609578), mapped to chromosome 10q23; RCM3 (612422), caused by mutation in the TNNT2 gene (191045) on chromosome 1q32; RCM4 (see 615248), caused by mutation in the MYPN gene (608517) on chromosome 10q21; RCM5 (see 617047), caused by mutation in the FLNC gene (102565) on chromosome 7q32; and RCM6 (619433), caused by mutation in the KIF20A gene (605664) on chromosome 5q31.|OMIM|N|
C1861862|While most people with familial hypertrophic cardiomyopathy are symptom-free or have only mild symptoms, this condition can have serious consequences. It can cause abnormal heart rhythms (arrhythmias) that may be life threatening. People with familial hypertrophic cardiomyopathy have an increased risk of sudden death, even if they have no other symptoms of the condition. A small number of affected individuals develop potentially fatal heart failure, which may require heart transplantation.\n\nThe symptoms of familial hypertrophic cardiomyopathy are variable, even within the same family. Many affected individuals have no symptoms. Other people with familial hypertrophic cardiomyopathy may experience chest pain; shortness of breath, especially with physical exertion; a sensation of fluttering or pounding in the chest (palpitations); lightheadedness; dizziness; and fainting.\n\nNonfamilial hypertrophic cardiomyopathy tends to be milder. This form typically begins later in life than familial hypertrophic cardiomyopathy, and affected individuals have a lower risk of serious cardiac events and sudden death than people with the familial form.\n\nIn familial hypertrophic cardiomyopathy, cardiac thickening usually occurs in the interventricular septum, which is the muscular wall that separates the lower left chamber of the heart (the left ventricle) from the lower right chamber (the right ventricle). In some people, thickening of the interventricular septum impedes the flow of oxygen-rich blood from the heart, which may lead to an abnormal heart sound during a heartbeat (heart murmur) and other signs and symptoms of the condition. Other affected individuals do not have physical obstruction of blood flow, but the pumping of blood is less efficient, which can also lead to symptoms of the condition. Familial hypertrophic cardiomyopathy often begins in adolescence or young adulthood, although it can develop at any time throughout life.\n\nHypertrophic cardiomyopathy is a heart condition characterized by thickening (hypertrophy) of the heart (cardiac) muscle. When multiple members of a family  have the condition, it is known as familial hypertrophic cardiomyopathy. Hypertrophic cardiomyopathy also occurs in people with no family history; these cases are considered nonfamilial hypertrophic cardiomyopathy. |MedlinePlus Genetics|N|
C1861863|Familial hypertrophic cardiomyopathy-3 (CMH3) is an autosomal dominant disorder characterized by increased myocardial mass with myocyte and myofibrillar disarray (Thierfelder et al., 1994).
For a general phenotypic description and a discussion of genetic heterogeneity of hypertrophic cardiomyopathy, see CMH1 (192600).|OMIM|N|
C1861864|Hypertrophic cardiomyopathy is a heart condition characterized by thickening (hypertrophy) of the heart (cardiac) muscle. When multiple members of a family  have the condition, it is known as familial hypertrophic cardiomyopathy. Hypertrophic cardiomyopathy also occurs in people with no family history; these cases are considered nonfamilial hypertrophic cardiomyopathy. \n\nIn familial hypertrophic cardiomyopathy, cardiac thickening usually occurs in the interventricular septum, which is the muscular wall that separates the lower left chamber of the heart (the left ventricle) from the lower right chamber (the right ventricle). In some people, thickening of the interventricular septum impedes the flow of oxygen-rich blood from the heart, which may lead to an abnormal heart sound during a heartbeat (heart murmur) and other signs and symptoms of the condition. Other affected individuals do not have physical obstruction of blood flow, but the pumping of blood is less efficient, which can also lead to symptoms of the condition. Familial hypertrophic cardiomyopathy often begins in adolescence or young adulthood, although it can develop at any time throughout life.\n\nNonfamilial hypertrophic cardiomyopathy tends to be milder. This form typically begins later in life than familial hypertrophic cardiomyopathy, and affected individuals have a lower risk of serious cardiac events and sudden death than people with the familial form.\n\nThe symptoms of familial hypertrophic cardiomyopathy are variable, even within the same family. Many affected individuals have no symptoms. Other people with familial hypertrophic cardiomyopathy may experience chest pain; shortness of breath, especially with physical exertion; a sensation of fluttering or pounding in the chest (palpitations); lightheadedness; dizziness; and fainting.\n\nWhile most people with familial hypertrophic cardiomyopathy are symptom-free or have only mild symptoms, this condition can have serious consequences. It can cause abnormal heart rhythms (arrhythmias) that may be life threatening. People with familial hypertrophic cardiomyopathy have an increased risk of sudden death, even if they have no other symptoms of the condition. A small number of affected individuals develop potentially fatal heart failure, which may require heart transplantation.|MedlinePlus Genetics|N|
C1861866|Absence or underdevelopment of the corpus callosum.|HPO|N|
C1861869|Flatness of the supraorbital portion of the frontal bones.|HPO|N|
C1861872|The presence of multiple creases on the palm of the hand (more than the normal three major creases (distal transverse crease, proximal transverse crease, and thenar crease).|HPO|N|
C1861906|A small percentage of all breast cancers cluster in families. These cancers are described as hereditary and are associated with inherited gene mutations. Hereditary breast cancers tend to develop earlier in life than noninherited (sporadic) cases, and new (primary) tumors are more likely to develop in both breasts.\n\nIn some cases, cancerous cells can invade surrounding breast tissue. In these cases, the condition is known as invasive breast cancer. Sometimes, tumors spread to other parts of the body. If breast cancer spreads, cancerous cells most often appear in the bones, liver, lungs, or brain. Tumors that begin at one site and then spread to other areas of the body are called metastatic cancers.\n\nIn its early stages, breast cancer usually does not cause pain and may exhibit no noticeable symptoms. As the cancer progresses, signs and symptoms can include a lump or thickening in or near the breast; a change in the size or shape of the breast; nipple discharge, tenderness, or retraction (turning inward); and skin irritation, dimpling, redness, or scaliness. However, these changes can occur as part of many different conditions. Having one or more of these symptoms does not mean that a person definitely has breast cancer.\n\nBreast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. Although breast cancer is much more common in women, this form of cancer can also develop in men.  In both women and men, the most common form of breast cancer begins in cells lining the milk ducts (ductal cancer). In women, cancer can also develop in the glands that produce milk (lobular cancer). Most men have little or no lobular tissue, so lobular cancer in men is very rare.|MedlinePlus Genetics|N|
C1861921|A soft tissue continuity in the A/P axis between two digits that extends distally to at least the level of the proximal interphalangeal joints, or a soft tissue continuity in the A/P axis between two digits that lies significantly distal to the flexion crease that overlies the metacarpophalangeal or metatarsophalangeal joint of the adjacent digits.|HPO|N|
C1861922|Campomelic dysplasia (CD) is a skeletal dysplasia characterized by distinctive facies, Pierre Robin sequence with cleft palate, shortening and bowing of long bones, and clubfeet. Other findings include laryngotracheomalacia with respiratory compromise and ambiguous genitalia or normal female external genitalia in most individuals with a 46,XY karyotype. Many affected infants die in the neonatal period; additional findings identified in long-term survivors include short stature, cervical spine instability with cord compression, progressive scoliosis, and hearing impairment.|GeneReviews|N|
C1861923|A variant of campomelic dysplasia characterized by the absence of skeletal dysplasia.|NCI|N|
C1861937|An abnormal anterior bending or curvature of the tibia.|HPO|N|
C1861963|An extremely rare brachydactyly syndrome with characteristics of short broad hands and feet with brachydactyly associated with congenital flexion contractures of the proximal and/or distal interphalangeal joints of the fingers, as well as syndactyly of feet. Polydactyly, septate vagina and urinary incontinence were also occasionally reported. Camptobrachydactyly has been described in 18 members of 1 family, suggesting an autosomal dominant inheritance. There have been no further descriptions in the literature since 1972.|SNOMEDCT_US|N|
C1861964|A rare focal palmoplantar keratoderma disorder characterized by the development of thick, painful, non-erythematous, nummular keratotic lesions over pressure points of feet and possibly hands. Occasionally, knee and shin involvement, periungual/subungual hyperkeratoses, and blistering at the edge of the calluses, may be observed.|ORDO|N|
C1861967|Bilateral striopallidodentate calcinosis, also known as idiopathic basal ganglia calcification (IBGC), is characterized by the accumulation of calcium deposits in different brain regions and is associated with a neurodegenerative clinical phenotype. The changes seen in IBGC occur in the absence of calcium or parathyroid hormone (PTH; 168450) metabolic disorders, such as hypoparathyroidism (see 146200) or pseudohypoparathyroidism (PHP; see 103580).
See also the adult-onset form (213600), which is sometimes erroneously referred to as 'Fahr disease.'|OMIM|N|
C1861975|The presence of six or more cafe-au-lait spots.|HPO|N|
C1862050|The presence of a malformed cochlea.|HPO|N|
C1862052|Gustatory lacrimation results from an aberrant innervation of fibers from the seventh cranial nerve to the pterygopalatine ganglion which are destined originally for the submandibular ganglion. This aberrant innervation leads to uncontrollable tearing while eating or in anticipation of a meal.|HPO|N|
C1862059|Benign congenital lesion of the supraauricular soft tissue consisting of a blind-ending narrow tube or pit.|HPO|N|
C1862060|A benign congenital tumor that affects the orbit. It is one of the most common orbital tumors. It is characterized by the presence of a cystic structure that is lined by keratinizing epithelium and contains adnexal structures. Complete surgical excision is curative.|MONDO|N|
C1862061|A cystic lesion arising from the iris pigment epithelium at the posterior iris surface. (WHO 2018)|NCI|N|
C1862062|A rare benign eye tumour characterised by the presence of glial cells, vascular tissue and sheets of pigment epithelial cells lacking the distribution and organisation of the normal retina and retinal pigment epithelium. The lesion is most commonly found unilaterally as a slightly elevated mass in a peripapillary location but can also occur in the macula or the retinal periphery. It is sometimes associated with neurofibromatosis type 1 or 2, naevoid basal cell carcinoma syndrome, or branchio-oculo-facial syndrome. Patients may be asymptomatic or present with progressive loss of vision.|SNOMEDCT_US|N|
C1862066|Congenital developmental defect arising from the primitive branchial apparatus.|HPO|N|
C1862068|Bony fusion of malleus, incus, and stapes.|HPO|N|
C1862082|A very rare malformation syndrome with characteristics of short stature, hypoplastic fifth digits with tiny dysplastic nails, facial dysmorphism with coarse features including a wide mouth and broad nose, and mild intellectual disability. It has been suggested that Coffin-Siris syndrome and BOD syndrome are perhaps allelic variants.|SNOMEDCT_US|N|
C1862083|Underdevelopment (hypoplasia) of the fourth toe.|HPO|N|
C1862087|Shortening of the middle parts of the arm in relation to the upper and terminal segments.|HPO|N|
C1862092|Syndrome that resembles type A1 brachydactyly (variable shortening of the middle phalanges of all digits) with associated symphalangism (producing a distal phalanx with the shape of a chess pawn). Scoliosis, clubfoot and tall stature are also characteristic. The syndrome has been described in one family with five affected individuals from three successive generations. Transmission appears to be autosomal dominant.|SNOMEDCT_US|N|
C1862095|The distal and proximal transverse palmar creases are merged into a single transverse palmar crease on both hands.|HPO|N|
C1862096|Absence of one or more middle phalanx of a finger.|HPO|N|
C1862097|A morphological abnormality of distal phalanges such that they have the appearance of chess pawns.|HPO|N|
C1862099|A rare multiple congenital anomalies/dysmorphic syndrome characterized by brachydactyly, nystagmus, and cerebellar ataxia. Intellectual deficit and strabismus have also been reported. There have been no further descriptions in the literature since 1934.|ORDO|N|
C1862100|Ectrodactyly (split-hand/foot malformation) associated with fibular hypoplasia/aplasia is a rare disorder that appears to be inherited in an autosomal dominant fashion with reduced penetrance and variable expression (Evans et al., 2002).
A form of fibular hypoplasia/aplasia associated with oligosyndactyly and tibial campomelia has been reported (FATCO syndrome; 246570). Split-hand/foot malformation associated with tibial hypoplasia/aplasia has also been described (see SHFLD1, 119100).|OMIM|N|
C1862102|Any brachydactyly type E in which the cause of the disease is a mutation in the HOXD13 gene.|MONDO|N|
C1862103|The brachydactyly type C (BDC) phenotype includes brachymesophalangy of fingers 2, 3, and 5. The fourth finger is usually unaffected and thus appears as the longest finger of the hand. Shortening of metacarpal 1 and hyperphalangy in fingers 2 and 3 may occur and can be considered relatively characteristic signs. BDC can be highly variable, ranging from severely affected hands with very short fingers to mildly affected cases with only moderate brachydactyly, most often affecting the middle and proximal phalanges of fingers 2 and 3 (summary by Lehmann et al., 2006).|OMIM|N|
C1862112|A rare subtype of brachydactyly type B characterized by hypoplasia or aplasia of the distal phalanges of digits 2-5 with or without nail dysplasia, in association with fusion of the middle and distal phalanges, a broad or bifid thumb, and occasionally distal and proximal symphalangism or syndactyly. The feet are less severely affected than the hands.|ORDO|N|
C1862130|The Osebold-Remondini syndrome is a bone dysplasia with mesomelic shortness of limbs and, hence, shortness of stature, absence or hypoplasia of second phalanges with synostosis of the remaining phalanges, carpal and tarsal coalitions, and apparently no other anomalies (summary by Opitz and Gilbert, 1985).
See 602875 for a discussion of genetic heterogeneity of autosomal recessive acromesomelic dysplasia.|OMIM|N|
C1862131|Abnormally developed (dysplastic) distal epiphysis of the radius.|HPO|N|
C1862136|An abnormality of the tarsus are the cluster of seven bones in the foot between the tibia and fibula and the metatarsus, including the calcaneus (heel) bone and the talus (ankle) bone.|HPO|N|
C1862139|A type of brachydactyly characterized by brachymesophalangy affecting mainly the 2nd and 5th digits.|HPO|N|
C1862140|A congenital malformation characterized by shortening of the middle phalanx of the fifth finger. Inherited as an autosomal dominant trait.|SNOMEDCT_US|N|
C1862142|Hypoplasia of the second finger, also known as the index finger.|HPO|N|
C1862147|Medial deviation of the second toe.|HPO|N|
C1862151|In the classification of the brachydactylies, the analysis by Bell (1951) proved highly useful. The type A brachydactylies of Bell have the shortening confined mainly to the middle phalanges. In the A1 type, the middle phalanges of all the digits are rudimentary or fused with the terminal phalanges. The proximal phalanges of the thumbs and big toes are short.
Genetic Heterogeneity of Brachydactyly Type A1
BDA1B (607004) has been mapped to chromosome 5. BDA1C (615072) is caused by mutation in the GDF5 gene (601146) on chromosome 20q11. BDA1D (616849) is caused by mutation in the BMPR1B gene (603248) on chromosome 4q22.|OMIM|N|
C1862158|The term distal symphalangism refers to a bony fusion of the distal and middle phalanges of the digits of the hand, in other words the distal interphalangeal joint (DIJ) is missing which can be seen either on x-rays or as an absence of the distal interphalangeal finger creases.|HPO|N|
C1862159|Underdevelopment (hypoplasia) of the proximal phalanx of big toe.|HPO|N|
C1862162|A rare congenital limb malformation characterized the association of hallux varus with short thumbs and first toes (involving the metacarpals, metatarsals, and distal phalanges; the proximal and middle phalanges are of normal length) and abduction of the affected digits. Intellectual deficit was observed in all reported individuals. There have been no further reports since 1994.|ORDO|N|
C1862163|Ballard syndrome has characteristics of hypoplasia of the distal phalanges of the ulnar side of the hand and shortening of one or more metacarpals. In contrast to brachydactyly type E, patients with Ballard syndrome have normal stature. The syndrome has been described in 12 members from four generations of one family. Transmission appears to be autosomal dominant.|SNOMEDCT_US|N|
C1862169|A very rare autosomal dominant heart-hand syndrome with characteristics of bisymmetric brachydactyly accompanied by long thumbs, joint anomalies (restriction of motion at the shoulder and metacarpophalangeal joints) and cardiac conduction defects. Additional features include small hands and feet, clinodactyly, narrow shoulders with short clavicles, pectus excavatum and mild shortness of the limbs, cardiomegaly and murmur of pulmonic stenosis. It has been described in four family members from three generations, with no new cases having been reported since 1981.|SNOMEDCT_US|N|
C1862170|The hypertension and brachydactyly syndrome (HTNB) is characterized by brachydactyly type E, severe salt-independent but age-dependent hypertension, an increased fibroblast growth rate, neurovascular contact at the rostral-ventrolateral medulla, altered baroreflex blood pressure regulation, and death from stroke before age 50 years when untreated (summary by Maass et al., 2015).|OMIM|N|
C1862172|The diagnostic hallmarks of Weismann-Netter syndrome (WNS) are anterior bowing of the diaphyses of the tibia and fibula, broadening or 'tibialization' of the fibula, posterior cortical thickening of both bones, and short stature. The diaphyses of other long bones may be similarly affected, but usually to a milder degree. Some WNS patients have also displayed mental retardation (summary by Peippo et al., 2009).|OMIM|N|
C1862177|Diaphyseal medullary stenosis with malignant fibrous histiocytoma is an autosomal dominant bone dysplasia characterized by pathologic fractures due to abnormal cortical growth and diaphyseal medullary stenosis. The fractures heal poorly, and there is progressive bowing of the lower extremities. In 2 families, affected individuals also showed a limb-girdle myopathy, with muscle weakness and atrophy. Approximately 35% of affected individuals develop an aggressive form of bone sarcoma consistent with malignant fibrous histiocytoma or osteosarcoma. Thus, the disorder may be considered a tumor predisposition syndrome (summary by Camacho-Vanegas et al., 2012).|OMIM|N|
C1862178|An extremely rare form of bone dysplasia characterized by the features of osteogenesis imperfecta such as bone fragility associated with multiple fractures, bone deformities (metaphyseal irregularities and bowing of the long bones) and blue sclera, in association with growth failure, craniosynostosis, hydrocephalus, ocular proptosis, and distinctive facial features (e.g. frontal bossing, midface hypoplasia, and micrognathia).|ORDO|N|
C1862184|A chronic form of disseminated intravascular coagulation in which a persistent weak or intermittent activating stimulus is present and destruction and production of coagulation factors and platelets are balanced.|HPO|N|
C1862259|A rare, genetic, lens position anomaly disease characterized by bilateral congenital blepharoptosis, ectopia lentis and high grade myopia. Additional reported manifestations include abnormally long eye globes and signs of levator aponeurosis disinsertion. There have been no further descriptions in the literature since 1982.|ORDO|N|
C1862265|Overproduction of gonadotropins (FSH, LH) by the anterior pituitary gland.|HPO|N|
C1862299|Primary basilar impression of the skull is a developmental defect of the cranium in which there is invagination of the foramen magnum upward into the posterior cranial fossa. Basilar impression is often associated with other malformations of the notochord and craniovertebral junction, such as occipitalization of the atlas, Klippel-Feil anomaly (see 118100), Chiari type I malformation (118420), and syringomyelia (186700) (Paradis and Sax, 1972; Bhangoo and Crockard, 1999). Secondary basilar impression occurs as a result of generalized skeletal diseases, including hyperparathyroidism (see 145000), Paget disease (see 167250), and osteogenesis imperfecta (see, e.g., 166200).
Platybasia refers to a skull base with an abnormally obtuse angle between the planes of the clivus and the anterior fossa. Platybasia may occur in basilar impression, but it is not of medical significance on its own (Bhangoo and Crockard, 1999).
Historically, basilar impression was defined radiologically by numerous parameters, including the lines defined by Chamberlain (1939), McGregor (1948), and Fischgold and Metzger (1952), and the angle defined by Bull et al. (1955).|OMIM|N|
C1862304|Polyp-like protrusions which are histologically hamartomas located in the stomach.|HPO|N|
C1862313|Hypoplastic (short) distal phalanx of the thumb.|HPO|N|
C1862319|A synostosis syndrome reported in a single Hungarian family in which members of 3 generations showed lunotriquetral synostosis, clinodactyly, clinometacarpy, brachymetacarpy and leptometacarpy (thin diaphysis). It appeared to be a unique dominant mutation. There have been no further descriptions in the literature since 1965.|SNOMEDCT_US|N|
C1862322|Southeast Asian ovalocytosis is a hereditary red blood cell disorder that is widespread in certain ethnic groups of Malaysia, Papua New Guinea, the Philippines, and Indonesia. Ovalocytic erythrocytes are rigid and exhibit reduced expression of many erythrocyte antigens. The ovalocytes are resistant to invasion in vitro by several strains of malaria, including Plasmodium falciparum and Plasmodium knowlesi (summary by Jarolim et al., 1991). The disorder is most often asymptomatic but has been reported to be associated with signs of mild hemolysis such as intermittent jaundice and gallstones (summary by Reardon et al., 1993).|OMIM|N|
C1862359|Fasciculations affecting the tongue muscle and the musculature of the face.|HPO|N|
C1862381|A very rare condition characterized by multiple osseous dysplasia, characteristic ear shape (elongation of the lobe that is attached and accompanied by a small, slightly posterior lobule) and somewhat short stature.|ORDO|N|
C1862382|Sveinsson chorioretinal atrophy (SCRA) is characterized by bilateral, well-defined, tongue-shaped strips of atrophic retina and choroid that extend from the optic nerve into the peripheral ocular fundus. The lesions may be evident at birth and usually progress at a variable rate, sometimes leading to central visual loss. Separate small distinct circular atrophic lesions are observed in the peripheral ocular fundus in some patients. Congenital anterior polar cataracts are found in approximately 25% of affected individuals (summary by Jonasson et al., 2007).|OMIM|N|
C1862387|Lown-Ganong-Levine syndrome is an extremely rare conduction disorder characterized by a short PR interval (less than or equal to 120 ms) with normal QRS complex on electrocardiogram associated with the occurrence of episodes of atrial tachyarrythmias (e.g. atrial fibrillation, atrial tachycardia).|ORDO|N|
C1862389|Secundum atrial septal defect (ASD) is a common congenital heart malformation that occurs as an isolated anomaly in 10% of individuals with congenital heart disease. Uncorrected ASD can cause pulmonary overcirculation, right heart volume overload, and premature death (summary by Benson et al., 1998).
Genetic Heterogeneity of Atrial Septal Defect
The ASD1 locus has been mapped to chromosome 5p. Other forms of atrial septal defect that are associated with other congenital heart disease but no conduction defects or noncardiac abnormalities include ASD2 (607941), caused by mutation in the GATA4 gene (600576), and ASD4 (611363), caused by mutation in the TBX20 gene (606061). ASD3 (614089) and ASD5 (612794), in which atrial septal defect is not associated with other cardiac abnormalities, are caused by mutation in the MYH6 (160710) and ACTC1 (102540) genes, respectively. ASD6 (613087), in which atrial septal defect may be associated with aneurysm of the interatrial septum and cardiac arrhythmias, is caused by mutation in the TLL1 gene (606742). ASD7 (108900), in which ASD is often associated with atrioventricular conduction defects, is caused by mutation in the NKX2-5 gene (600584). ASD8 (614433), in which ASD may be associated with other cardiac anomalies, is caused by mutation in the CITED2 gene (602937). ASD9 (614475) is caused by mutation in the GATA6 gene (601656).
Somatic mutations in the HAND1 gene (602406) have been identified in tissue samples from patients with ASDs.|OMIM|N|
C1862394|Atrial fibrillation is the most common sustained cardiac rhythm disturbance, affecting more than 2 million Americans, with an overall prevalence of 0.89%. The prevalence increases rapidly with age, to 2.3% between the ages of 40 and 60 years, and to 5.9% over the age of 65. The most dreaded complication is thromboembolic stroke (Brugada et al., 1997).
For a discussion of genetic heterogeneity of atrial fibrillation, see 608583.|OMIM|N|
C1862415|An abnormality related to a defect of vertebral separation of cervical vertebrae during development.|HPO|N|
C1862428|A flattened vertebral body shape with reduced distance beween the vertebral endplates affecting the thoracic spine.|HPO|N|
C1862441|A rare hereditary ataxia with characteristics of an apparently non-progressive or slowly progressive symmetrical ataxia of gait, pyramidal signs in the limbs, spasticity and hyperreflexia (especially in the lower limbs) together with dysarthria and impaired pupillary reaction to light, presenting as a fixed miosis. Nystagmus may also be present.|SNOMEDCT_US|N|
C1862459|Spermatogenic failure-2 (SPGF2) is characterized by male infertility due to azoospermia (Tang et al., 2020; Akbari et al., 2021).
For a discussion of phenotypic and genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).|OMIM|N|
C1862471|Distal arthrogryposis type 6 (DA6) is distinguished by the additional feature of sensorineural deafness (summary by Bamshad et al., 2009).
For a phenotypic description and a discussion of genetic heterogeneity of distal arthrogryposis, see DA1 (108120).|OMIM|N|
C1862472|Distal arthrogryposis type 5 is distinguished from other forms of DA by the presence of ocular abnormalities, typically ptosis, ophthalmoplegia, and/or strabismus, in addition to contractures of the skeletal muscles. Some cases have been reported to have pulmonary hypertension as a result of restrictive lung disease (summary by Bamshad et al., 2009).
There are 2 syndromes with features overlapping those of DA5 that are also caused by heterozygous mutation in PIEZO2: distal arthrogryposis type 3 (DA3, or Gordon syndrome; 114300) and Marden-Walker syndrome (MWKS; 248700), which are distinguished by the presence of cleft palate and mental retardation, respectively. McMillin et al. (2014) suggested that the 3 disorders might represent variable expressivity of the same condition.
For a general phenotypic description and a discussion of genetic heterogeneity of distal arthrogryposis, see DA1A (108120).
Genetic Heterogeneity of Distal Arthrogryposis 5
A subtype of DA5 due to mutation in the ECEL1 gene (605896) on chromosome 2q36 has been designated DA5D (615065). See NOMENCLATURE.|OMIM|N|
C1862474|A reduced degree of voluntary and involuntary facial movements involved in responded to others or expressing emotions.|HPO|N|
C1862479|Absence of one or more interphalangeal creases (i.e., of the transverse lines in the skin between the phalanges of the fingers).|HPO|N|
C1862496|Hemangioma, a benign tumor of the vascular endothelial cells, occurring in the midline region of the face.|HPO|N|
C1862499|Underdevelopment of the biceps muscle.|HPO|N|
C1862511|Arrhythmogenic right ventricular cardiomyopathy (ARVC) – previously referred to as arrhythmogenic right ventricular dysplasia (ARVD) – is characterized by progressive fibrofatty replacement of the myocardium that predisposes to ventricular tachycardia and sudden death in young individuals and athletes. It primarily affects the right ventricle, and it may also involve the left ventricle. The presentation of disease is highly variable even within families, and some affected individuals may not meet established clinical criteria. The mean age at diagnosis is 31 years (±13; range: 4-64 years).|GeneReviews|N|
C1862596|Familial hypobetalipoproteinemia (FHBL) is a disorder that impairs the body's ability to absorb and transport fats. This condition is characterized by low levels of a fat-like substance called cholesterol in the blood. The severity of signs and symptoms experienced by people with FHBL vary widely. The most mildly affected individuals have few problems with absorbing fats from the diet and no related signs and symptoms. Many individuals with FHBL develop an abnormal buildup of fats in the liver called hepatic steatosis or fatty liver. In more severely affected individuals, fatty liver may progress to chronic liver disease (cirrhosis). Individuals with severe FHBL have greater difficulty absorbing fats as well as fat-soluble vitamins such as vitamin E and vitamin A. This difficulty in fat absorption leads to excess fat in the feces (steatorrhea). In childhood, these digestive problems can result in an inability to grow or gain weight at the expected rate (failure to thrive).|MedlinePlus Genetics|N|
C1862682|A developmental anomaly characterized at birth by the presence of right-sided aortic arch, craniofacial dysmorphism (microcephaly, asymmetric, facial bones, broad forehead, borderline hypertelorism, nasal septum deviation, large nasal cavity, large, posteriorly rotated ears, and microstomia with downturned corners), and intellectual disability. These features were observed in 4 members of one family, involving 2 successive generations, suggesting an autosomal dominant mode of transmission. There have been no further descriptions in the literature since 1968.|ORDO|N|
C1862689|The presence of a supernumerary, i.e. third, crus of the helix in the helix, arising at or above the normal bifurcation of the antihelix.|HPO|N|
C1862839|Anterior segment dysgeneses (ASGD or ASMD) are a heterogeneous group of developmental disorders affecting the anterior segment of the eye, including the cornea, iris, lens, trabecular meshwork, and Schlemm canal. The clinical features of ASGD include iris hypoplasia, an enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, an abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface (summary by Cheong et al., 2016).
Anterior segment dysgenesis is sometimes divided into subtypes including aniridia (see 106210), Axenfeld and Rieger anomalies, iridogoniodysgenesis, Peters anomaly, and posterior embryotoxon (Gould and John, 2002).
Some patients with ASGD1 have been reported with the Peters anomaly subtype.
In its simplest form, Peters anomaly involves a central corneal opacity, but it may also involve adherent iris strands. Some patients have keratolenticular content or cataract. The underlying defects in this form of congenital corneal opacity reside in the posterior stroma, Descemet membrane, and corneal endothelium. The disorder results from abnormal migration or function of neural crest cells and may include abnormalities of other anterior segment structures, such as the lens and iris (summary by Withers et al., 1999).|OMIM|N|
C1862841|Familial anonychia/onychodystrophy with hypoplasia or absence of distal phalanges (ODP) is a rare disorder characterized by onychodystrophy, anonychia, brachydactyly of the fifth finger, and digitalization of the thumbs, with absence or hypoplasia of the distal phalanges of the hands and feet. Generally the nails of the first to third digits are progressively deformed with total anonychia in the last 2 digits and in all toes (summary by Genzer-Nir et al., 2010).
A syndrome has been described in which affected females display juvenile hypertrophy of the breast (JHB; 113670) in association with ODP, whereas males have only ODP (mammary-digital-nail syndrome; 613689).|OMIM|N|
C1862844|A rare ectodermal dysplasia syndrome characterized by anonychia congenita totalis or rudimentary nails, macular hyper- and/or hypopigmentation (particularly affecting groins, axillae and breasts), coarse scalp hair (that becomes markedly thinned in early adult life), dry palmoplantar skin with distorted epidermal ridges and sore, cracked soles, and hypohidrosis. There have been no further descriptions in the literature since 1975.|ORDO|N|
C1862852|Spondyloarthropathy (SpA), one of the commonest chronic rheumatic diseases, includes a spectrum of related disorders comprising the prototype ankylosing spondylitis (AS), a subset of psoriatic arthritis (PsA), reactive arthritis (ReA), arthritis associated with inflammatory bowel disease, and undifferentiated spondyloarthropathy (Miceli-Richard et al., 2004). These phenotypes are difficult to differentiate because they may occur simultaneously or sequentially in the same patient. Studies have suggested that a predominant shared component, including HLA-B27, predisposes to all phenotypic subsets, and that these subsets should be considered as various phenotypic expressions of the same disease (Said-Nahal et al., 2000, Said-Nahal et al., 2001).
Braun and Sieper (2007) provided a detailed review of ankylosing spondylitis, including clinical features, pathogenesis, and management.
Genetic Heterogeneity of Susceptibility to Spondyloarthropathy
Additional susceptibility loci for spondyloarthropathy have been identified on chromosome 9q31-q34 (SPDA2; 183840) and chromosome 2q36 (SPDA3; 613238).|OMIM|N|
C1862862|Transient, non-scarring hair loss and preservation of the hair follicle located in in well-defined patches.|HPO|N|
C1862863|Sparseness of the body hair.|HPO|N|
C1862866|A rare syndromic developmental defect of the eye malformation with characteristics of unilateral or bilateral, single or multiple, filiforme bands of elastic tissue which connect the eyelid margins at the gray line, associated with cleft lip and palate. Eye examination is otherwise normal.|SNOMEDCT_US|N|
C1862867|Aniridia, microcornea, and spontaneously reabsorbed cataract represents a complex phenotype of ocular malformation. Bilateral microphathalmia, persistent fetal vasculature, and secondary glaucoma have also been observed (Marakhonov et al., 2020).|OMIM|N|
C1862868|A syndrome described in three members of a family (a boy, his father and his paternal grandmother) with the association of aniridia and patella aplasia or hypoplasia. The grandmother also had bilateral cataracts and glaucoma. There have been no further descriptions in the literature since 1975.|SNOMEDCT_US|N|
C1862911|There has been a noticeable decrease in the need for sleep, where individuals feel refreshed even with minimal or no sleep.|HPO|N|
C1862932|Rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death. Several risk factors such as smoking, hypertension, and excessive alcohol intake are associated with subarachnoid hemorrhage (summary by Krischek and Inoue, 2006).
Genetic Heterogeneity of Intracranial Berry Aneurysm
Intracranial berry aneurysm-1 (ANIB1) has been mapped to chromosome 7q11.2.
Other mapped loci for intracranial berry aneurysm include ANIB2 (608542) on chromosome 19q13, ANIB3 (609122) on 1p36.13-p34.3, ANIB4 (610213) on 5p15.2-14.3, ANIB5 (300870) on Xp22, ANIB6 (611892) on 9p21, ANIB7 (612161) on 11q24-q25, ANIB8 (612162) on 14q23, ANIB9 (612586) on 2q, ANIB10 (612587) on 8q, and ANIB11 (614252) on 8p22. ANIB12 (618734) is caused by mutation in the THSD1 gene (616821).|OMIM|N|
C1862939|Amyotrophic lateral sclerosis is a neurodegenerative disorder characterized by the death of motor neurons in the brain, brainstem, and spinal cord, resulting in fatal paralysis. ALS usually begins with asymmetric involvement of the muscles in middle adult life. Approximately 10% of ALS cases are familial (Siddique and Deng, 1996). ALS is sometimes referred to as 'Lou Gehrig disease' after the famous American baseball player who was diagnosed with the disorder.
Rowland and Shneider (2001) and Kunst (2004) provided extensive reviews of ALS.
Some forms of ALS occur with frontotemporal dementia (FTD); see 105500. Ranganathan et al. (2020) provided a detailed review of the genes involved in different forms of ALS with FTD, noting that common disease pathways involve disturbances in RNA processing, autophagy, the ubiquitin proteasome system, the unfolded protein response, and intracellular trafficking. The current understanding of ALS and FTD is that some forms of these disorders represent a spectrum of disease with converging mechanisms of neurodegeneration.
Familial ALS is distinct from a form of ALS with dementia reported in cases on Guam (105500) (Espinosa et al., 1962; Husquinet and Franck, 1980), in which the histology is different and dementia and parkinsonism complicate the clinical picture.
Genetic Heterogeneity of Amyotrophic Lateral Sclerosis
ALS is a genetically heterogeneous disorder, with several causative genes and mapped loci.
ALS6 (608030) is caused by mutation in the FUS gene (137070) on chromosome 16p11; ALS8 (608627) is caused by mutation in the VAPB gene (605704) on chromosome 13; ALS9 (611895) is caused by mutation in the ANG gene (105850) on chromosome 14q11; ALS10 (612069) is caused by mutation in the TARDBP gene (605078) on 1p36; ALS11 (612577) is caused by mutation in the FIG4 gene (609390) on chromosome 6q21; ALS12 (613435) is caused by mutation in the OPTN gene (602432) on chromosome 10p13; ALS15 (300857) is caused by mutation in the UBQLN2 gene (300264) on chromosome Xp11; ALS18 (614808) is caused by mutation in the PFN1 gene (176610) on chromosome 17p13; ALS19 (615515) is caused by mutation in the ERBB4 gene (600543) on chromosome 2q34; ALS20 (615426) is caused by mutation in the HNRNPA1 gene (164017) on chromosome 12q13; ALS21 (606070) is caused by mutation in the MATR3 gene (164015) on chromosome 5q31; ALS22 (616208) is caused by mutation in the TUBA4A gene (191110) on chromosome 2q35; ALS23 (617839) is caused by mutation in the ANXA11 gene (602572) on chromosome 10q23; ALS26 (619133) is caused by mutation in the TIA1 gene (603518) on chromosome 2p13; ALS27 (620285) is caused by mutation in the SPTLC1 gene (605712) on chromosome 9q22; and ALS28 (620452) is caused by mutation in the LRP12 gene (618299) on chromosome 8q22.
Loci associated with ALS have been found on chromosomes 18q21 (ALS3; 606640) and 20p13 (ALS7; 608031).
Intermediate-length polyglutamine repeat expansions in the ATXN2 gene (601517) contribute to susceptibility to ALS (ALS13; 183090). Susceptibility to ALS24 (617892) is conferred by mutation in the NEK1 gene (604588) on chromosome 4q33, and susceptibility to ALS25 (617921) is conferred by mutation in the KIF5A gene (602821) on chromosome 12q13. Susceptibility to ALS has been associated with mutations in other genes, including deletions or insertions in the gene encoding the heavy neurofilament subunit (NEFH; 162230); deletions in the gene encoding peripherin (PRPH; 170710); and mutations in the dynactin gene (DCTN1; 601143).
Some forms of ALS show juvenile onset. See juvenile-onset ALS2 (205100), caused by mutation in the alsin (606352) gene on 2q33; ALS4 (602433), caused by mutation in the senataxin gene (SETX; 608465) on 9q34; ALS5 (602099), caused by mutation in the SPG11 gene (610844) on 15q21; and ALS16 (614373), caused by mutation in the SIGMAR1 gene (601978) on 9p13.|OMIM|N|
C1862941|Sporadic amyotrophic lateral sclerosis is a amyotrophic lateral sclerosis in which there is no known cause, such as no family history.|MONDO|N|
C1862968|A diffuse form of amyloidosis.|HPO|N|
C1863006|A rare syndrome comprising hypocalcified-hypoplastic tooth enamel, onycholysis with subungual hyperkeratosis, and hypohidrosis.|SNOMEDCT_US|N|
C1863012|Any amelogenesis imperfecta in which the cause of the disease is a mutation in the DLX3 gene.|MONDO|N|
C1863051|Memory loss is the most common sign of Alzheimer's disease. Forgetfulness may be subtle at first, but the loss of memory worsens over time until it interferes with most aspects of daily living. Even in familiar settings, a person with Alzheimer's disease may get lost or become confused. Routine tasks such as preparing meals, doing laundry, and performing other household chores can be challenging. Additionally, it may become difficult to recognize people and name objects. Affected people increasingly require help with dressing, eating, and personal care.\n\nAlzheimer's disease can be classified as early-onset or late-onset. The signs and symptoms of the early-onset form appear between a person's thirties and mid-sixties, while the late-onset form appears during or after a person's mid-sixties. The early-onset form of Alzheimer's disease is much less common than the late-onset form, accounting for less than 10 percent of all cases of Alzheimer's disease.\n\nIndividuals with Alzheimer's disease usually survive 8 to 10 years after the appearance of symptoms, but the course of the disease can range from 1 to 25 years. Survival is usually shorter in individuals diagnosed after age 80 than in those diagnosed at a younger age. In Alzheimer's disease, death usually results from pneumonia, malnutrition, or general body wasting (inanition).\n\nAs the disorder progresses, some people with Alzheimer's disease experience personality and behavioral changes and have trouble interacting in a socially appropriate manner. Other common symptoms include agitation, restlessness, withdrawal, and loss of language skills. People with Alzheimer's disease usually require total care during the advanced stages of the disease.\n\nAlzheimer's disease is a degenerative disease of the brain that causes dementia, which is a gradual loss of memory, judgment, and ability to function. This disorder usually appears in people older than age 65, but less common forms of the disease appear earlier in adulthood.|MedlinePlus Genetics|N|
C1863052|Alzheimer disease is the most common form of progressive dementia in the elderly. It is a neurodegenerative disorder characterized by the neuropathologic findings of intracellular neurofibrillary tangles (NFT) and extracellular amyloid plaques that accumulate in vulnerable brain regions (Sennvik et al., 2000). Terry and Davies (1980) pointed out that the 'presenile' form, with onset before age 65, is identical to the most common form of late-onset or 'senile' dementia, and suggested the term 'senile dementia of the Alzheimer type' (SDAT).
Haines (1991) reviewed the genetics of AD. Selkoe (1996) reviewed the pathophysiology, chromosomal loci, and pathogenetic mechanisms of Alzheimer disease. Theuns and Van Broeckhoven (2000) reviewed the transcriptional regulation of the genes involved in Alzheimer disease.
Genetic Heterogeneity of Alzheimer Disease
Alzheimer disease is a genetically heterogeneous disorder. See also AD2 (104310), associated with the APOE*4 allele (107741) on chromosome 19; AD3 (607822), caused by mutation in the presenilin-1 gene (PSEN1; 104311) on 14q; and AD4 (606889), caused by mutation in the PSEN2 gene (600759) on 1q31.
There is evidence for additional AD loci on other chromosomes; see AD5 (602096) on 12p11; AD6 (605526) on 10q24; AD7 (606187) on 10p13; AD8 (607116) on 20p; AD9 (608907), associated with variation in the ABCA7 gene (605414) on 19p13; AD10 (609636) on 7q36; AD11 (609790) on 9q22; AD12 (611073) on 8p12-q22; AD13 (611152) on 1q21; AD14 (611154) on 1q25; AD15 (604154) on 3q22-q24; AD16 (300756) on Xq21.3; AD17 (615080) on 6p21.2; and AD18 (615590), associated with variation in the ADAM10 gene (602192) on 15q21.
Evidence also suggests that mitochondrial DNA polymorphisms may be risk factors in Alzheimer disease (502500).
Finally, there have been associations between AD and various polymorphisms in other genes, including alpha-2-macroglobulin (A2M; 103950.0005), low density lipoprotein-related protein-1 (LRP1; 107770), the transferrin gene (TF; 190000), the hemochromatosis gene (HFE; 613609), the NOS3 gene (163729), the vascular endothelial growth factor gene (VEGF; 192240), the ABCA2 gene (600047), and the TNF gene (191160) (see MOLECULAR GENETICS).|OMIM|N|
C1863061|Transient episodes of weakness of the arm, leg, and in some cases the face on one side of the body.|HPO|N|
C1863062|Intermittent episodes of paralysis of all four limbs.|HPO|N|
C1863080|Hereditary persistence of alpha-fetoprotein (HPAFP) is a clinically benign autosomal dominant condition characterized by continued expression of alpha-fetoprotein in adult life (summary by McVey et al., 1993).|OMIM|N|
C1863081|Alpha-fetoprotein deficiency appears to be a benign genetic trait (Greenberg et al., 1992; Sharony et al., 2004).|OMIM|N|
C1863090|Syndrome characterised by congenital permanent alopecia universalis, intellectual disability, psychomotor epilepsy and periodontal pyorrhoea. Total permanent alopecia and periodontal pyorrhoea are invariably concomitant while intellectual disability and psychomotor epilepsy are observed in most patients. No other abnormality of nails or skin (apart from absence of hair) has been reported. Transmission is autosomal dominant.|SNOMEDCT_US|N|
C1863094|Alopecia areata is a genetically determined, immune-mediated disorder of the hair follicle with an estimated lifetime risk of approximately 2%, making it one of the most common human autoimmune diseases. It shows a spectrum of severity that ranges from patchy localized hair loss on the scalp to the complete absence of hair everywhere on the body (Gilhar and Kalish, 2006).|OMIM|N|
C1863184|The presence of calcium deposition in the choroid plexus.|HPO|N|
C1863200|Underdevelopment of the lacrimal gland.|HPO|N|
C1863201|Congenital absence or closure of the opening of the lacrimal punctum.|HPO|N|
C1863203|Hypoglossia-hypodactyly syndrome is characterized by a hypoplastic mandible, absence of the lower incisors, hypoglossia, and a variable degree of absence of the digits and limbs. Intelligence is normal (Hall, 1971).
Hall (1971) classified what he termed the 'syndromes of oromandibular and limb hypogenesis,' which comprised a range of disorders with hypoglossia in common. Type I included hypoglossia and aglossia in isolation. Type II included hypoglossia with hypomelia/hypodactylia. Type III included glossopalatine ankylosis with hypoglossia or hypoglossia and hypomelia/hypodactyly. Type IV included intraoral bands with fusion with hypoglossia or hypoglossia and hypomelia/hypodactyly. Type V included several syndromes, such as Hanhart syndrome, Pierre Robin syndrome (261800), Moebius syndrome (157900), and amniotic band syndrome (217100). Hall (1971) noted that complete aglossia or adactylia had not been reported, and suggested that 'hypoglossia-hypodactylia' is a more accurate term.
See also hypoglossia and situs inversus (612776).|OMIM|N|
C1863204|The TP63-related disorders comprise six overlapping phenotypes: Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome (which includes Rapp-Hodgkin syndrome). Acro-dermo-ungual-lacrimal-tooth (ADULT) syndrome. Ectrodactyly, ectodermal dysplasia, cleft lip/palate syndrome 3 (EEC3). Limb-mammary syndrome. Split-hand/foot malformation type 4 (SHFM4). Isolated cleft lip/cleft palate (orofacial cleft 8). Individuals typically have varying combinations of ectodermal dysplasia (hypohidrosis, nail dysplasia, sparse hair, tooth abnormalities), cleft lip/palate, split-hand/foot malformation/syndactyly, lacrimal duct obstruction, hypopigmentation, hypoplastic breasts and/or nipples, and hypospadias. Findings associated with a single phenotype include ankyloblepharon filiforme adnatum (tissue strands that completely or partially fuse the upper and lower eyelids), skin erosions especially on the scalp associated with areas of scarring, and alopecia, trismus, and excessive freckling.|GeneReviews|N|
C1863224|Elevation of red cell ATP levels is accompanied by elevated red cell pyruvate kinase activity and mild erythrocytosis. Red cell life span is slightly shortened. The patients in whom this trait was first described were asymptomatic (summary by Beutler et al., 1997).|OMIM|N|
C1863235|Hemolytic anemia due to elevated adenosine deaminase (HAEADA) is an X-linked hematologic disorder characterized by onset of mild to moderate red cell anemia soon after birth or in childhood. The anemia is associated with significantly increased activity of ADA (608958) specifically in erythrocyte precursors. ATP levels may be secondarily decreased. Additional features may include low birth weight, thrombocytopenia, hypospadias, and splenomegaly. Males are preferentially affected, although carrier females may show elevated erythrocyte ADA or mild features (Ludwig et al., 2022).|OMIM|N|
C1863236|Adenosine deaminase (ADA) deficiency is a systemic purine metabolic disorder that primarily affects lymphocyte development, viability, and function. The clinical phenotypic spectrum includes: Severe combined immunodeficiency disease (SCID), often diagnosed by age six months and usually by age 12 months; Less severe "delayed" onset combined immune deficiency (CID), usually diagnosed between age one and ten years; "Late/adult onset" CID, diagnosed in the second to fourth decades; Benign "partial ADA deficiency" (very low or absent ADA activity in erythrocytes but greater ADA activity in nucleated cells), which is compatible with normal immune function. Infants with typical early-onset ADA-deficient SCID have failure to thrive and opportunistic infections associated with marked depletion of T, B, and NK lymphocytes, and an absence of both humoral and cellular immune function. If immune function is not restored, children with ADA-deficient SCID rarely survive beyond age one to two years. Infections in delayed- and late-onset types (commonly, recurrent otitis, sinusitis, and upper respiratory) may initially be less severe than those in individuals with ADA-deficient SCID; however, by the time of diagnosis these individuals often have chronic pulmonary insufficiency and may have autoimmune phenomena (cytopenias, anti-thyroid antibodies), allergies, and elevated serum concentration of IgE. The longer the disorder goes unrecognized, the more immune function deteriorates and the more likely are chronic sequelae of recurrent infection.|GeneReviews|N|
C1863246|Absence of specific immunoglobulins directed against a specific antigen or microorganism.|HPO|N|
C1863307|Acropectorovertebral dysgenesis, or F syndrome, is an autosomal dominant skeletal dysplasia characterized by carpal and tarsal synostoses, syndactyly between the first and second fingers, hypodactyly and polydactyly of feet, and abnormalities of the sternum and spine (summary by Thiele et al., 2004).|OMIM|N|
C1863343|A keratosis of the hands and feet characterized by persistent, asymptomatic, yellowish to white papules and plaques associated with fine-textured scalp hair and an atopic diathesis.|MONDO|N|
C1863349|An abnormal indentation of the skin in the region of the nasal tip.|HPO|N|
C1863351|Excessive growth of the calvaria.|HPO|N|
C1863382|A developmental defect characterized by the absence of the first metatarsal bone.|HPO|N|
C1863392|Any structural anomaly of the limbic system, a set of midline structures surrounding the brainstem of the mammalian brain, originally described anatomically, e.g., hippocampal formation, amygdala, hypothalamus, cingulate cortex. Although the original designation was anatomical, the limbic system has come to be associated with the system in the brain subserving emotional functions. As such, it is very poorly defined and doesn't correspond closely to the anatomical meaning any longer. [BirnLex].|HPO|N|
C1863395|An abnormality of head shape characterized by the presence of a short, wide head as well as a pointy or conical form of the top of the head owing to premature closure of the coronal and lambdoid sutures.|HPO|N|
C1863402|Increased width of the distal phalanx of thumb.|HPO|N|
C1863406|An abnormality of the C-shaped rings of hyaline cartilage, normally 16 to 20 in number, that occupy the anterior two-thirds of the circumference of the trachea (the posterior portion of the ring is completed by fibrous and smooth muscle tissue).|HPO|N|
C1863411|A hamartoma (a benign, focal malformation consisting of a disorganized mixture of cells and tissues) of the retina.|HPO|N|
C1863416|Autosomal Dominant Compelling Helioopthalmic Outburst (ACHOO) Syndrome is characterized by uncontrollable sneezing in response to the sudden exposure to bright light, typically intense sunlight. This type of sneezing is also known as photic sneezing. About one in four individuals who already have a prickling sensation in their nose will sneeze in response to sunlight, but “pure” photic sneezing is far less common. Sneezing is usually triggered by contact with infectious agents or after inhaling irritants, but the cause of photic sneezing is not fully understood. It may involve an over-excitability of the visual cortex in response to light, leading to a stronger activation of the secondary somatosensory areas.|Medical Genetics Summaries|N|
C1863486|Acetaminophen (paracetamol) is extensively conjugated with glucuronic acid and sulfate before renal excretion. A minor metabolic route involves microsomal oxidation of acetaminophen to a hepatotoxic reactive intermediate, which subsequently undergoes glutathione (GSH) conjugation, yielding cysteine and mercapturate conjugates, both of which are excreted in the urine (Slattery et al., 1987).|OMIM|N|
C1863492|A developmental defect resulting in the congenital absence of skin on the scalp in the parietal area.|HPO|N|
C1863496|A developmental defect resulting in the congenital absence of skin on the trunk or the limbs.|HPO|N|
C1863512|Familial hypercholesterolemia (FH) is characterized by significantly elevated low-density lipoprotein cholesterol (LDL-C) that leads to atherosclerotic plaque deposition in the coronary arteries and proximal aorta at an early age and increases the risk of premature cardiovascular events such as angina and myocardial infarction; stroke occurs more rarely. Xanthomas (cholesterol deposits in tendons) may be visible in the Achilles tendons or tendons of the hands and worsen with age as a result of extremely high cholesterol levels. Xanthelasmas (yellowish, waxy deposits) can occur around the eyelids. Individuals with FH may develop corneal arcus (white, gray, or blue opaque ring in the corneal margin as a result of cholesterol deposition) at a younger age than those without FH. Individuals with a more severe phenotype, often as a result of biallelic variants, can present with very significant elevations in LDL-C (>500 mg/dL), early-onset coronary artery disease (CAD; presenting as early as childhood in some), and calcific aortic valve disease.|GeneReviews|N|
C1863533|Hydroa vacciniforme (HV) is a rare photodermatosis characterized by acute vesiculation and crusting and scarring following sun exposure (Gupta et al., 1999).|OMIM|N|
C1863534|Stargardt disease (STGD) is the most common hereditary macular dystrophy and is characterized by decreased central vision, atrophy of the macula and underlying retinal pigment epithelium, and frequent presence of prominent flecks in the posterior pole of the retina. STGD is most commonly inherited as an autosomal recessive trait (see 248200), but STGD4 is inherited as an autosomal dominant trait (summary by Kniazeva et al., 1999).
For a general phenotypic description and a discussion of genetic heterogeneity of Stargardt disease, see STGD1 (248200).|OMIM|N|
C1863535|Substantial differences in cognitive abilities (e.g., visuospatial abilities, memory, vocabulary, semantics, and symbolic reasoning) tend to cluster within individuals. Model-fitting metaanalyses based on dozens of twin and adoption studies have estimated that approximately 50% of total population variance in intelligence can be attributed to genetic factors (Devlin et al., 1997). Heritability of quantitatively distributed traits such as intelligence is likely to be due to multiple genes of varying effect size, called quantitative trait loci (QTLs).
QTLs for intelligence have been mapped to chromosome 4 (INTLQ1), chromosome 2q (INTLQ2; 610294), and chromosome 6p (INTLQ3; 610295).|OMIM|N|
C1863551|Familial hypercholesterolemia (FH) is characterized by significantly elevated low-density lipoprotein cholesterol (LDL-C) that leads to atherosclerotic plaque deposition in the coronary arteries and proximal aorta at an early age and increases the risk of premature cardiovascular events such as angina and myocardial infarction; stroke occurs more rarely. Xanthomas (cholesterol deposits in tendons) may be visible in the Achilles tendons or tendons of the hands and worsen with age as a result of extremely high cholesterol levels. Xanthelasmas (yellowish, waxy deposits) can occur around the eyelids. Individuals with FH may develop corneal arcus (white, gray, or blue opaque ring in the corneal margin as a result of cholesterol deposition) at a younger age than those without FH. Individuals with a more severe phenotype, often as a result of biallelic variants, can present with very significant elevations in LDL-C (>500 mg/dL), early-onset coronary artery disease (CAD; presenting as early as childhood in some), and calcific aortic valve disease.|GeneReviews|N|
C1863556|A hereditary disorder characterized by disproportionate short stature, a relatively large head, and a long triangular face early in life. This phenotype later evolves to one with in which the head is relatively small, the mandible is large and pointy. The affected individuals have normal cognitive abilities and lack any neurological deficits. Other typical features include a prominent nose, a voice with an unusual high-pitched sound, relatively small ears, curved digits (clinodactyly), short bones in fingers and toes (brachydactyly), small hands, underdeveloped (hypoplastic) fingernails, a waddling gait, and sparse hair post-pubertally.|MONDO|N|
C1863557|KAT6B disorders include genitopatellar syndrome (GPS) and Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome (SBBYSS) which are part of a broad phenotypic spectrum with variable expressivity; individuals presenting with a phenotype intermediate between GPS and SBBYSS have been reported. Both phenotypes are characterized by some degree of global developmental delay / intellectual disability; hypotonia; genital abnormalities; and skeletal abnormalities including patellar hypoplasia/agenesis, flexion contractures of the knees and/or hips, and anomalies of the digits, spine, and/or ribs. Congenital heart defects, small bowel malrotation, feeding difficulties, slow growth, cleft palate, hearing loss, and dental anomalies have been observed in individuals with either phenotype.|GeneReviews|N|
C1863561|Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the STRC gene.|MONDO|N|
C1863599|Hereditary myopathy with early respiratory failure (HMERF) is a slowly progressive myopathy that typically begins in the third to fifth decades of life. The usual presenting findings are gait disturbance relating to distal leg weakness or nocturnal respiratory symptoms due to respiratory muscle weakness. Weakness eventually generalizes and affects both proximal and distal muscles. Most affected individuals require walking aids within a few years of onset; some progress to wheelchair dependence and require nocturnal noninvasive ventilatory support about ten years after onset. The phenotype varies even among individuals within the same family: some remain ambulant until their 70s whereas others may require ventilator support in their 40s.|GeneReviews|N|
C1863600|Prostate cancer is a common disease that affects men, usually in middle age or later. In this disorder, certain cells in the prostate become abnormal, multiply without control or order, and form a tumor. The prostate is a gland that surrounds the male urethra and helps produce semen, the fluid that carries sperm.\n\nEarly prostate cancer usually does not cause pain, and most affected men exhibit no noticeable symptoms. Men are often diagnosed as the result of health screenings, such as a blood test for a substance called prostate specific antigen (PSA) or a medical exam called a digital rectal exam (DRE). As the tumor grows larger, signs and symptoms can include difficulty starting or stopping the flow of urine, a feeling of not being able to empty the bladder completely, blood in the urine or semen, or pain with ejaculation. However, these changes can also occur with many other genitourinary conditions. Having one or more of these symptoms does not necessarily mean that a man has prostate cancer.\n\nThe severity and outcome of prostate cancer varies widely. Early-stage prostate cancer can usually be treated successfully, and some older men have prostate tumors that grow so slowly that they may never cause health problems during their lifetime, even without treatment. In other men, however, the cancer is much more aggressive; in these cases, prostate cancer can be life-threatening.\n\nSome cancerous tumors can invade surrounding tissue and spread to other parts of the body. Tumors that begin at one site and then spread to other areas of the body are called metastatic cancers. The signs and symptoms of metastatic cancer depend on where the disease has spread. If prostate cancer spreads, cancerous cells most often appear in the lymph nodes, bones, lungs, liver, or brain. \n\nA small percentage of prostate cancers are hereditary and occur in families. These hereditary cancers are associated with inherited gene variants. Hereditary prostate cancers tend to develop earlier in life than non-inherited (sporadic) cases.|MedlinePlus Genetics|N|
C1863613|An autosomal recessive nonsyndromic deafness that has material basis in variation between D7S554 and D7S2459 in the chromosome region 7q31.|MONDO|N|
C1863616|Verloes et al. (1992) described a rare variant of frontonasal dysplasia (see FND1, 136760), designated acromelic frontonasal dysplasia (AFND), in which similar craniofacial anomalies are associated with variable central nervous system malformations and limb defects including tibial hypoplasia/aplasia, talipes equinovarus, and preaxial polydactyly of the feet.|OMIM|N|
C1863617|The common blue nevus of Jadassohn-Tieche most frequently presents as a solitary blue 1- to 10-mm dome-shaped papule on the dorsal hand or foot. It is characterized by greatly elongated wavy groups of spindled dermal melanocytes that are oriented parallel to the epidermis. Cellular blue nevi resemble common blue nevi clinically but are usually larger, ranging from 1 to 3 cm in diameter, and occur primarily on the buttocks or sacrum as a solitary blue nodule (summary by Knoell et al., 1998).|OMIM|N|
C1863634|Cone-rod dystrophy is a group of related eye disorders that causes vision loss, which becomes more severe over time. These disorders affect the retina, which is the layer of light-sensitive tissue at the back of the eye. In people with cone-rod dystrophy, vision loss occurs as the light-sensing cells of the retina gradually deteriorate.\n\nThere are more than 30 types of cone-rod dystrophy, which are distinguished by their genetic cause and their pattern of inheritance: autosomal recessive, autosomal dominant, and X-linked. Additionally, cone-rod dystrophy can occur alone without any other signs and symptoms or it can occur as part of a syndrome that affects multiple parts of the body.\n\nThe first signs and symptoms of cone-rod dystrophy, which often occur in childhood, are usually decreased sharpness of vision (visual acuity) and increased sensitivity to light (photophobia). These features are typically followed by impaired color vision (dyschromatopsia), blind spots (scotomas) in the center of the visual field, and partial side (peripheral) vision loss. Over time, affected individuals develop night blindness and a worsening of their peripheral vision, which can limit independent mobility. Decreasing visual acuity makes reading increasingly difficult and most affected individuals are legally blind by mid-adulthood. As the condition progresses, individuals may develop involuntary eye movements (nystagmus).|MedlinePlus Genetics|N|
C1863653|A unilateral vestibular schwannoma (acoustic neurinoma).|HPO|N|
C1863655|Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TECTA gene.|MONDO|N|
C1863659|Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MYH9 gene.|MONDO|N|
C1863688|Xanthinuria type II (XAN2) is an autosomal recessive inborn error of metabolism resulting from a defect in the synthesis of the molybdenum cofactor, which is necessary for the 2 enzymes that degrade xanthine: XDH (607633) and AOX1 (602841). Most individuals with type II xanthinuria are asymptomatic, but some develop urinary tract calculi, acute renal failure, or myositis due to tissue deposition of xanthine. Laboratory studies show increased serum and urinary hypoxanthine and xanthine and decreased serum and urinary uric acid (summary by Ichida et al., 2001).
Two clinically similar but distinct forms of xanthinuria are recognized. In type I xanthinuria (XAN1; 278300), there is an isolated deficiency of xanthine dehydrogenase resulting from mutation in the XDH gene; in type II, there is a dual deficiency of xanthine dehydrogenase and aldehyde oxidase. Type I patients can metabolize allopurinol, whereas type II patients cannot (Simmonds et al., 1995).|OMIM|N|
C1863704|Hereditary spastic paraplegia 8 (SPG8) is a slowly progressive pure spastic paraplegia of the lower limbs (i.e., pyramidal signs including hyperreflexia, spasticity, and occasionally clonus without other neurologic findings). Some affected individuals have urinary urgency that usually becomes apparent at the same time as the spasticity. Onset is between ages ten and 59 years. Affected individuals often become wheelchair dependent. While intra- and interfamilial phenotypic variability is high, SPG8 is typically more severe than other types of hereditary spastic paraplegia.|GeneReviews|N|
C1863715|A severe form of B lymphocytopenia in which the count of B cells is very low or absent.|HPO|N|
C1863727|Familial hemophagocytic lymphohistiocytosis-2 (FHL2) is an autosomal recessive disorder of immune dysregulation with onset in infancy or early childhood. It is characterized clinically by fever, edema, hepatosplenomegaly, and liver dysfunction. Neurologic impairment, seizures, and ataxia are frequent. Laboratory studies show pancytopenia, coagulation abnormalities, hypofibrinogenemia, and hypertriglyceridemia. There is increased production of cytokines, such as gamma-interferon (IFNG; 147570) and TNF-alpha (191160), by hyperactivation and proliferation of T cells and macrophages. Activity of cytotoxic T cells and NK cells is reduced, consistent with a defect in cellular cytotoxicity. Bone marrow, lymph nodes, spleen, and liver show features of hemophagocytosis. Chemotherapy and/or immunosuppressant therapy may result in symptomatic remission, but the disorder is fatal without bone marrow transplantation (summary by Dufourcq-Lagelouse et al., 1999, Stepp et al., 1999, and Molleran Lee et al., 2004).
For a general phenotypic description and a discussion of genetic heterogeneity of FHL, see 267700.|OMIM|N|
C1863728|Hemophagocytic lymphohistiocytosis is a hyperinflammatory disorder clinically diagnosed based on the fulfillment of 5 of 8 criteria, including fever, splenomegaly, bicytopenia, hypertriglyceridemia and/or hypofibrinogenemia, hemophagocytosis, low or absent natural killer (NK) cell activity, hyperferritinemia, and high soluble IL2 receptor levels (IL2R; 147730). The disorder typically presents in infancy or early childhood. Persistent remission is rarely achieved with chemo- or immunotherapy; hematopoietic stem cell transplantation is the only cure (summary by Muller et al., 2014).
For a phenotypic description and a discussion of genetic heterogeneity of familial hemophagocytic lymphohistiocytosis (FHL), see 267700.|OMIM|N|
C1863732|Spondyloepimetaphyseal dysplasia with joint laxity type 2 (SEMDJL2) is characterized by short stature, distinctive midface retrusion, progressive knee malalignment (genu valgum and/or varum), generalized ligamentous laxity, and mild spinal deformity. Intellectual development is not impaired. Radiographic characteristics include significantly retarded epiphyseal ossification that evolves into epiphyseal dysplasia and precocious osteoarthritis, metaphyseal irregularities and vertical striations, constricted femoral neck, slender metacarpals and metatarsals, and mild thoracolumbar kyphosis or scoliosis with normal or mild platyspondyly (summary by Min et al., 2011).
For a discussion of genetic heterogeneity of SEMD with joint laxity, see SEMDJL1 (271640).|OMIM|N|
C1863734|Narrowing (becoming gradually narrower) of the distance between vertebral pedicles that gets progressively more severe towards to caudal (lower) end of the vertebral column. Note that normally, the interpedicular distances get progressively wider as one proceeds down the spine.|HPO|N|
C1863739|An abnormally reduced diameter of the femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft).|HPO|N|
C1863749|Underdevelopment of one or more carpal bones.|HPO|N|
C1863752|Increased size of the vestibular aqueduct.|HPO|N|
C1863753|The TP63-related disorders comprise six overlapping phenotypes: Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome (which includes Rapp-Hodgkin syndrome). Acro-dermo-ungual-lacrimal-tooth (ADULT) syndrome. Ectrodactyly, ectodermal dysplasia, cleft lip/palate syndrome 3 (EEC3). Limb-mammary syndrome. Split-hand/foot malformation type 4 (SHFM4). Isolated cleft lip/cleft palate (orofacial cleft 8). Individuals typically have varying combinations of ectodermal dysplasia (hypohidrosis, nail dysplasia, sparse hair, tooth abnormalities), cleft lip/palate, split-hand/foot malformation/syndactyly, lacrimal duct obstruction, hypopigmentation, hypoplastic breasts and/or nipples, and hypospadias. Findings associated with a single phenotype include ankyloblepharon filiforme adnatum (tissue strands that completely or partially fuse the upper and lower eyelids), skin erosions especially on the scalp associated with areas of scarring, and alopecia, trismus, and excessive freckling.|GeneReviews|N|
C1863843|Neuronal intranuclear inclusion disease (NIID) is an autosomal dominant, slowly progressive neurodegenerative disorder characterized by a wide range of clinical manifestations, including pyramidal and extrapyramidal symptoms, cerebellar ataxia, cognitive decline and dementia, peripheral neuropathy, and autonomic dysfunction. The age at onset varies, but most individuals present as adults between about 30 and 70 years of age. Pathologic investigation shows eosinophilic intranuclear inclusions in almost all cell types, including neurons, skin cells, fibroblasts, and skeletal muscle. Brain imaging shows a characteristic leukoencephalopathy with high intensity signals in the corticomedullary junction on diffusion-weighted imaging (DWI), as well as white matter abnormalities in subcortical and brainstem regions. Skin biopsy combined with brain imaging is useful for diagnosis (summary by Sone et al., 2016).
The phenotype in some cases is suggestive of Parkinson disease (see 168600) and/or Alzheimer disease (see 104300), consistent with an evolving phenotypic spectrum of adult-onset NIID (summary by Tian et al., 2019).|OMIM|N|
C1863844|Citrin deficiency can manifest in newborns or infants as neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD), in older children as failure to thrive and dyslipidemia caused by citrin deficiency (FTTDCD), and in adults as recurrent hyperammonemia with neuropsychiatric symptoms in citrullinemia type II (CTLN2). Often citrin deficiency is characterized by strong preference for protein-rich and/or lipid-rich foods and aversion to carbohydrate-rich foods. NICCD. Children younger than age one year have a history of low birth weight with growth restriction and transient intrahepatic cholestasis, hepatomegaly, diffuse fatty liver, and parenchymal cellular infiltration associated with hepatic fibrosis, variable liver dysfunction, hypoproteinemia, decreased coagulation factors, hemolytic anemia, and/or hypoglycemia. NICCD is generally not severe and symptoms often resolve by age one year with appropriate treatment, although liver transplantation has been required in rare instances. FTTDCD. Beyond age one year, many children with citrin deficiency develop a protein-rich and/or lipid-rich food preference and aversion to carbohydrate-rich foods. Clinical abnormalities may include growth restriction, hypoglycemia, pancreatitis, severe fatigue, anorexia, and impaired quality of life. Laboratory changes are dyslipidemia, increased lactate-to-pyruvate ratio, higher levels of urinary oxidative stress markers, and considerable deviation in tricarboxylic acid (TCA) cycle metabolites. One or more decades later, some individuals with NICCD or FTTDCD develop CTLN2. CTLN2. Presentation is sudden and usually between ages 20 and 50 years. Manifestations are recurrent hyperammonemia with neuropsychiatric symptoms including nocturnal delirium, aggression, irritability, hyperactivity, delusions, disorientation, restlessness, drowsiness, loss of memory, flapping tremor, convulsive seizures, and coma. Symptoms are often provoked by alcohol and sugar intake, medication, and/or surgery. Affected individuals may or may not have a prior history of NICCD or FTTDCD.|GeneReviews|N|
C1863872|A short discontinuity of the margin of the upper eyelid.|HPO|N|
C1863878|Bosma arhinia microphthalmia syndrome (BAMS) is characterized by severe hypoplasia of the nose and eyes, palatal abnormalities, deficient taste and smell, inguinal hernias, hypogonadotropic hypogonadism with cryptorchidism, and normal intelligence (summary by Graham and Lee, 2006).
Also see absence of nasal bones (161480).|OMIM|N|
C1863881|Radioulnar synostosis-microcephaly-scoliosis syndrome, also known as Guiffré-Tsukahara syndrome, is an extremely rare syndrome characterized by the association of radioulnar synostosis with microcephaly, scoliosis, short stature and intellectual deficit.|ORDO|N|
C1863925|The familial form of nonmedullary thyroid carcinoma (NMTC) is a complex genetic disorder characterized by multifocal neoplasia and a higher degree of aggressiveness than its sporadic counterpart.
One peculiar form of thyroid tumors is characterized by the presence of cell oxyphilia. Oxophil cells are found in a minority of thyroid tumors, either benign or malignant. These cells show a large volume of granular eosinophilic cytoplasm and are very rich in mitochondria. The familial occurrence of thyroid tumors with cell oxyphilia was reported by Katoh et al. (1998). Canzian et al. (1998) reported such a family with affected members in 3 generations and by linkage analysis mapped the gene to 19p13.
For general phenotypic information and a discussion of genetic heterogeneity of NMTC, see 188550.|OMIM|N|
C1863959|Some degree of stimulation of the thyroid gland by chorionic gonadotropin (see 118860) is common during early pregnancy. When serum chorionic gonadotropin concentrations are abnormally high, e.g., in women with molar pregnancies (231090), overt hyperthyroidism may ensue. The pathophysiologic mechanism appears to be promiscuous stimulation of the thyrotropin receptor by the excess chorionic gonadotropin. The explanation for this stimulation is the close structural relations between chorionic gonadotropin and thyrotropin and between their receptors (Grossmann et al., 1997).|OMIM|N|
C1864002|GRACILE syndrome is an autosomal recessive lethal disorder characterized by fetal growth retardation, lactic acidosis, aminoaciduria, cholestasis, and abnormalities in iron metabolism. Patients develop fulminant lactic acidosis during the first day of life. Despite intensive care, about half of affected infants die during the first days of life, and the remainder within 4 months of life. Finnish and British patients have been reported, with slightly different phenotypes; the British patients have additional features of complex III deficiency and neurologic symptoms (Visapaa et al., 2002).|OMIM|N|
C1864010|A schizophrenia that has material basis in an autosomal dominant mutation of SCZD2 on chromosome 11q14-q21.|MONDO|N|
C1864040|Cerebral cavernous malformations (CCMs) are vascular malformations in the brain and spinal cord comprising closely clustered, enlarged capillary channels (caverns) with a single layer of endothelium without mature vessel wall elements or normal intervening brain parenchyma. The diameter of CCMs ranges from a few millimeters to several centimeters. CCMs increase or decrease in size and increase in number over time. Hundreds of lesions may be identified, depending on the person's age and the quality and type of brain imaging used. Although CCMs have been reported in infants and children, the majority become evident between the second and fifth decades with findings such as seizures, focal neurologic deficits, nonspecific headaches, and cerebral hemorrhage. Up to 50% of individuals with FCCM remain symptom free throughout their lives. Cutaneous vascular lesions are found in 9% of those with familial cerebral cavernous malformations (FCCM; see Diagnosis/testing) and retinal vascular lesions in almost 5%.|GeneReviews|N|
C1864041|Cerebral cavernous malformations (CCMs) are vascular malformations in the brain and spinal cord comprising closely clustered, enlarged capillary channels (caverns) with a single layer of endothelium without mature vessel wall elements or normal intervening brain parenchyma. The diameter of CCMs ranges from a few millimeters to several centimeters. CCMs increase or decrease in size and increase in number over time. Hundreds of lesions may be identified, depending on the person's age and the quality and type of brain imaging used. Although CCMs have been reported in infants and children, the majority become evident between the second and fifth decades with findings such as seizures, focal neurologic deficits, nonspecific headaches, and cerebral hemorrhage. Up to 50% of individuals with FCCM remain symptom free throughout their lives. Cutaneous vascular lesions are found in 9% of those with familial cerebral cavernous malformations (FCCM; see Diagnosis/testing) and retinal vascular lesions in almost 5%.|GeneReviews|N|
C1864068|An inherited susceptibility or predisposition to developing type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 10q25.|MONDO|N|
C1864100|Disorders of GNAS inactivation include the phenotypes pseudohypoparathyroidism Ia, Ib, and Ic (PHP-Ia, -Ib, -Ic), pseudopseudohypoparathyroidism (PPHP), progressive osseous heteroplasia (POH), and osteoma cutis (OC). PHP-Ia and PHP-Ic are characterized by: End-organ resistance to endocrine hormones including parathyroid hormone (PTH), thyroid-stimulating hormone (TSH), gonadotropins (LH and FSH), growth hormone-releasing hormone (GHRH), and CNS neurotransmitters (leading to obesity and variable degrees of intellectual disability and developmental delay); and The Albright hereditary osteodystrophy (AHO) phenotype (short stature, round facies, and subcutaneous ossifications) and brachydactyly type E (shortening mainly of the 4th and/or 5th metacarpals and metatarsals and distal phalanx of the thumb). Although PHP-Ib is characterized principally by PTH resistance, some individuals also have partial TSH resistance and mild features of AHO (e.g., brachydactyly). PPHP, a more limited form of PHP-Ia, is characterized by various manifestations of the AHO phenotype without the hormone resistance or obesity. POH and OC are even more restricted variants of PPHP: POH consists of dermal ossification beginning in infancy, followed by increasing and extensive bone formation in deep muscle and fascia. OC consists of extra-skeletal ossification that is limited to the dermis and subcutaneous tissues.|GeneReviews|N|
C1864111|Myopia, or nearsightedness, is a refractive error of the eye. Light rays from a distant object are focused in front of the retina and those from a near object are focused in the retina; therefore distant objects are blurry and near objects are clear (summary by Kaiser et al., 2004).
For a discussion of genetic heterogeneity of susceptibility to myopia, see 160700.|OMIM|N|
C1864112|Genetic prion disease generally manifests with cognitive difficulties, ataxia, and myoclonus (abrupt jerking movements of muscle groups and/or entire limbs). The order of appearance and/or predominance of these features and other associated neurologic and psychiatric findings vary. The three major phenotypes of genetic prion disease are genetic Creutzfeldt-Jakob disease (gCJD), fatal familial insomnia (FFI), and Gerstmann-Sträussler-Scheinker (GSS) syndrome. Although these phenotypes display overlapping clinical and pathologic features, recognition of these phenotypes can be useful when providing affected individuals and their families with information about the expected clinical course. The age at onset typically ranges from 50 to 60 years. The disease course ranges from a few months in gCJD and FFI to a few (up to 4, and in rare cases up to 10) years in GSS syndrome.|GeneReviews|N|
C1864124|A schizophrenia that has material basis in an autosomal dominant mutation of SCZD8 on chromosome 18p.|MONDO|N|
C1864125|Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is characterized by clusters of nocturnal motor seizures, which are often stereotyped and brief (5 seconds to 5 minutes). They vary from simple arousals from sleep to dramatic, often bizarre hyperkinetic events with tonic or dystonic features. Affected individuals may experience aura. Retained awareness during seizures is common. A minority of individuals experience daytime seizures. Onset ranges from infancy to adulthood. About 80% of individuals develop ADNFLE in the first two decades of life; mean age of onset is ten years. Clinical neurologic examination is normal and intellect is usually preserved, but reduced intellect, psychiatric comorbidity, or cognitive deficits may occur. Within a family, the manifestations of the disorder may vary considerably. ADNFLE is lifelong but not progressive. As an individual reaches middle age, attacks may become milder and less frequent.|GeneReviews|N|
C1864148|Meckel syndrome is a rare autosomal recessive lethal condition characterized by an occipital meningoencephalocele, enlarged kidneys with multicystic dysplasia and fibrotic changes in the portal area of the liver and with ductal proliferation, and postaxial polydactyly. For a more complete phenotypic description and information on genetic heterogeneity, see MKS1 (249000).|OMIM|N|
C1864152|A schizophrenia that has material basis in an autosomal dominant mutation of SCZD7 on chromosome 13q32.|MONDO|N|
C1864153|A schizophrenia that has material basis in a mutation on chromosome 6q13-q26.|MONDO|N|
C1864168|Exaggerated skin markings (dermatoglyphics) on the palms of the hand.|HPO|N|
C1864179|Elevations of the levels of SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) that occur during infections.|HPO|N|
C1864186|CDAGS syndrome is characterized by craniosynostosis and clavicular hypoplasia, delayed closure of the fontanel, anal and genitourinary anomalies, and skin eruption of porokeratotic lesions (Mendoza-Londono et al., 2005).|OMIM|N|
C1864199|An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 7q34-q36.|MONDO|N|
C1864205|Age-related macular degeneration (ARMD) is a progressive degeneration of photoreceptors and underlying retinal pigment epithelium (RPE) cells in the macula region of the retina. It is a highly prevalent disease and a major cause of blindness in the Western world. Drusen, pale excrescences of variable size, and other deposits accumulate below the RPE on the Bruch membrane; clinical and histopathologic investigations have shown that these extracellular deposits are the hallmark of early ARMD. As ARMD advances, areas of geographic atrophy of the RPE can cause visual loss, or choroidal neovascularization can occur to cause wet, or exudative, ARMD with accompanying central visual loss (summary by De et al., 2007).
Genetic Heterogeneity of Age-Related Macular Degeneration
ARMD2 (153800) is associated with mutation in the ABCR gene (601691) on chromosome 1p, and ARMD3 (608895) is caused by mutation in the FBLN5 gene (604580) on chromosome 14q31. Up to 50% of the attributable risk of age-related macular degeneration (ARMD4; 610698) appears to be explained by a polymorphism in the CFH gene (134370.0008). ARMD5 (613761) and ARMD6 (613757) are associated with mutation in the ERCC6 (609413) and RAX2 (610362) genes, respectively. ARMD7 (610149) and ARMD8 (613778), which both represent susceptibility linked to chromosome 10q26, are associated with single-nucleotide polymorphisms in the HTRA1 (602194) and ARMS2 (611313) genes, respectively. ARMD9 (611378) is associated with single-nucleotide polymorphisms in the C3 gene (120700). ARMD10 (611488) maps to chromosome 9q32 and may be associated with a polymorphism in the TLR4 gene (603030). ARMD11 (611953) is association with variation in the CST3 gene (604312); ARMD12 (613784) with variation in the CX3CR1 gene (601470); and ARMD13 (615439) with variation in the CFI gene (217030). ARMD14 (615489) is associated with variation in or near the C2 (613927) and CFB (138470) genes on chromosome 6p21. ARMD15 (615591) is associated with variation in the C9 gene (120940). There is evidence for a form of ARMD caused by mutation in the mitochondrial gene MTTL1 (590050).
A haplotype carrying deletion of the complement factor H-related genes CFHR1 (134371) and CFHR3 (605336) is also associated with reduced risk of ARMD.
Lotery and Trump (2007) reviewed the molecular biology of age-related macular degeneration and tabulated the genes associated with ARMD, including those with only positive findings versus genes for which conflicting results have been found.|OMIM|N|
C1864226|Concentration of thymidine in the blood circulation above the normal range.|HPO|N|
C1864233|Congenital myasthenic syndromes (CMS) are a group of inherited disorders affecting the neuromuscular junction. Patients present clinically with onset of variable muscle weakness between infancy and adulthood. These disorders have been classified according to the location of the defect: presynaptic, synaptic, and postsynaptic. Endplate acetylcholinesterase deficiency is an autosomal recessive congenital myasthenic syndrome characterized by a defect within the synapse at the neuromuscular junction (NMJ). Mutations in COLQ result in a deficiency of acetylcholinesterase (AChE), which causes prolonged synaptic currents and action potentials due to extended residence of acetylcholine in the synaptic space. Treatment with ephedrine may be beneficial; AChE inhibitors and amifampridine should be avoided (summary by Engel et al., 2015).
For a discussion of genetic heterogeneity of CMS, see CMS1A (601462).|OMIM|N|
C1864238|An abnormal prolongation of the miniature endplate potentials, i.e. the postsynaptic response to transmitter released from an individual vesicle at the neuromuscular junction.|HPO|N|
C1864275|A schizophrenia that has material basis in an autosomal dominant mutation of SCZD6 on chromosome 8p21.|MONDO|N|
C1864276|An autosomal recessive nonsyndromic deafness that has material basis in variation between D7S2453 and D7S525 in the chromosome region 7q31.|MONDO|N|
C1864298|Relatively increased growth of the fibula compared to that of the tibia.|HPO|N|
C1864356|The acromesomelic dysplasias are disorders in which there is disproportionate shortening of skeletal elements, predominantly affecting the middle segments (forearms and forelegs) and distal segments (hands and feet) of the appendicular skeleton.
Acromesomelic dysplasia-1 (AMD1) is characterized by severe dwarfism (height below 120 cm) with shortening of the middle and distal segments of the limbs. This condition is usually diagnosed at birth and becomes more obvious in the first 2 years of life. X-rays show short broad fingers, square flat feet, and shortening of the long bones (particularly the forearms). The radius is bowed; the ulna is shorter than the radius, and its distal end is occasionally hypoplastic. The skull is dolichocephalic and a shortness of the trunk, with decreased vertebral height and narrowing of the lumbar interpedicular distances, is consistently observed. Facial appearance and intelligence are normal (summary by Faivre et al., 2000).
Genetic Heterogeneity of Acromesomelic Dysplasia
Additional autosomal recessive forms of acromesomelic dysplasia include acromesomelic dysplasia-2A (200700), -2B (228900), and -2C (201250), all caused by mutation in the GDF5 gene (601146) on chromosome 20q11; AMD3 (200700), caused by mutation in the BMPR1B gene (603248) on chromosome 4q22; and AMD4 (619636), caused by mutation in the PRKG2 gene (601591) on chromosome 4q21.
An autosomal dominant form of acromesomelic dysplasia has also been reported (see 112910).|OMIM|N|
C1864361|Over curvature of the lower thoracic region, leading to a round back or if sever to a hump.|HPO|N|
C1864364|A reduction of the distance between thoracolumbar vertebral pedicles.|HPO|N|
C1864365|Small hands and feet.|HPO|N|
C1864375|Increased length of the big toe.|HPO|N|
C1864389|Premature chromatid separation consists of separate and splayed chromatids with discernible centromeres and involves all or most chromosomes of a metaphase. It is found in up to 2% of metaphases in cultured lymphocytes from approximately 40% of normal individuals. When PCS is present in 5% or more of cells, it is known as the 'heterozygous PCS trait' and has no obvious phenotypic effect, although some have reported decreased fertility (Gabarron et al., 1986). Inheritance is autosomal codominant (Kajii and Ikeuchi, 2004).
See also 158250 for a possible inherited predisposition to nondisjunction, which may be a related phenomenon.|OMIM|N|
C1864436|Muenke syndrome is defined by the presence of the specific FGFR3 pathogenic variant – c.749C>G – that results in the protein change p.Pro250Arg. Muenke syndrome is characterized by considerable phenotypic variability: features may include coronal synostosis (more often bilateral than unilateral); synostosis of other sutures, all sutures (pan synostosis), or no sutures; or macrocephaly. Bilateral coronal synostosis typically results in brachycephaly (reduced anteroposterior dimension of the skull), although turribrachycephaly (a "tower-shaped" skull) or a cloverleaf skull can be observed. Unilateral coronal synostosis results in anterior plagiocephaly (asymmetry of the skull and face). Other craniofacial findings typically include: temporal bossing; widely spaced eyes, ptosis or proptosis (usually mild); midface retrusion (usually mild); and highly arched palate or cleft lip and palate. Strabismus is common. Other findings can include: hearing loss (in 33%-100% of affected individuals); developmental delay (~33%); epilepsy; intracranial anomalies; intellectual disability; carpal bone and/or tarsal bone fusions; brachydactyly, broad toes, broad thumbs, and/or clinodactyly; and radiographic findings of thimble-like (short and broad) middle phalanges and/or cone-shaped epiphyses. Phenotypic variability is considerable even within the same family. Of note, some individuals who have the p.Pro250Arg pathogenic variant may have no signs of Muenke syndrome on physical or radiographic examination.|GeneReviews|N|
C1864445|The histiocytosis-lymphadenopathy plus syndrome comprises features of 4 histiocytic disorders previously thought to be distinct: Faisalabad histiocytosis (FHC), sinus histiocytosis with massive lymphadenopathy (SHML), H syndrome, and pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome (PHID). FHC was described as an autosomal recessive disease involving joint deformities, sensorineural hearing loss, and subsequent development of generalized lymphadenopathy and swellings in the eyelids that contain histiocytes (summary by Morgan et al., 2010). SHML, or familial Rosai-Dorfman disease, was described as a rare cause of lymph node enlargement in children, consisting of chronic massive enlargement of cervical lymph nodes frequently accompanied by fever, leukocytosis, elevated erythrocyte sedimentation rate, and polyclonal hypergammaglobulinemia. Extranodal sites were involved in approximately 25% of patients, including salivary glands, orbit, eyelid, spleen, and testes. The involvement of retropharyngeal lymphoid tissue sometimes caused snoring and sleep apnea (summary by Kismet et al., 2005). H syndrome was characterized by cutaneous hyperpigmentation and hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism; hearing loss was also found in about half of patients, and many had short stature. PHID was characterized by predominantly antibody-negative insulin-dependent diabetes mellitus associated with pigmented hypertrichosis and variable occurrence of other features of H syndrome, with hepatosplenomegaly occurring in about half of patients (Cliffe et al., 2009). Bolze et al. (2012) noted that mutations in the SLC29A3 gene (612373) had been implicated in H syndrome, PHID, FHC, and SHML, and that some patients presented a combination of features from 2 or more of these syndromes, leading to the suggestion that these phenotypes should be grouped together as 'SLC29A3 disorder.' Bolze et al. (2012) suggested that the histologic features of the lesions seemed to be the most uniform phenotype in these patients. In addition, the immunophenotype of infiltrating cells in H syndrome patients was shown to be the same as that seen in patients with the familial form of Rosai-Dorfman disease, further supporting the relationship between these disorders (Avitan-Hersh et al., 2011; Colmenero et al., 2012).|OMIM|N|
C1864446|Any retinitis pigmentosa in which the cause of the disease is a mutation in the EYS gene.|MONDO|N|
C1864449|Reduced abilty to lower the chin towards the chest by bending the neck.|HPO|N|
C1864497|Any psoriasis in which the cause of the disease is a mutation in the CARD14 gene.|MONDO|N|
C1864498|Individuals with hereditary distal renal tubular acidosis (dRTA) typically present in infancy with failure to thrive, although later presentations can occur, especially in individuals with autosomal dominant SLC4A1-dRTA. Initial clinical manifestations can also include emesis, polyuria, polydipsia, constipation, diarrhea, decreased appetite, and episodes of dehydration. Electrolyte manifestations include hyperchloremic non-anion gap metabolic acidosis and hypokalemia. Renal complications of dRTA include nephrocalcinosis, nephrolithiasis, medullary cysts, and impaired renal function. Additional manifestations include bone demineralization (rickets, osteomalacia), growth deficiency, sensorineural hearing loss (in ATP6V0A4-, ATP6V1B1-, and FOXI1-dRTA), and hereditary hemolytic anemia (in some individuals with SLC4A1-dRTA).|GeneReviews|N|
C1864567|Mutations in the PITX3 gene have been found to cause multiple types of cataract, which have been described as congenital total and posterior polar.
The preferred title/symbol for this entry was formerly 'Cataract, Posterior Polar, 4; CTPP4.'|OMIM|N|
C1864570|Decreased sensitivity toward insulin.|HPO|N|
C1864573|A type of posterior subcapsular cataract characterized by an iridescent color.|HPO|N|
C1864580|Atrophy (wasting) affecting primary type 2 muscle fibers. This feature in general can only be observed on muscle biopsy.|HPO|N|
C1864584|Absence of hair in the anterior midline and/or parietal areas.|HPO|N|
C1864621|Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRCD gene.|MONDO|N|
C1864623|Any transient neonatal diabetes mellitus in which the cause of the disease is a mutation in the KCNJ11 gene.|MONDO|N|
C1864648|Chromosome 16p13.3deletion syndrome is a chromosome abnormality that can affect many parts of the body. People with this condition are missing a small piece (deletion) of chromosome 16 at a location designated p13.3. Although once thought to be a severe form of Rubinstein-Taybi syndrome, it is now emerging as a unique syndrome. Signs and symptoms may include failure to thrive, hypotonia (reduced muscle tone), short stature, microcephaly (unusually small head), characteristic facial features, mild to moderate intellectual disability, organ anomalies (i.e. heart and/or kidney problems), and vulnerability to infections. Chromosome testing of both parents can provide information about whether the deletion was inherited. In most cases, parents do not have any chromosome abnormalities. However, sometimes one parent has a balanced translocation where a piece of a chromosome has broken off and attached to another one with no gain or loss of genetic material. The balanced translocation normally does not cause signs or symptoms, but it increases the risk for having a child with a chromosome abnormality like a deletion. Treatment is based on the signs and symptoms present in each person.To learn more about chromosome abnormalities in general, view our GARD fact sheet on Chromosome Disorders.|MONDO|N|
C1864651|Any Gaucher disease in which the cause of the disease is a mutation in the PSAP gene.|MONDO|N|
C1864652|Mandibulofacial dysostosis with microcephaly (MFDM) is characterized by malar and mandibular hypoplasia, microcephaly (congenital or postnatal onset), intellectual disability (mild, moderate, or severe), malformations of the external ear, and hearing loss that is typically conductive. Associated craniofacial malformations may include cleft palate, choanal atresia, zygomatic arch cleft (identified on cranial CT scan), and facial asymmetry. Other relatively common findings (present in 25%-35% of individuals) can include cardiac anomalies, thumb anomalies, esophageal atresia/tracheoesophageal fistula, short stature, spine anomalies, and epilepsy.|GeneReviews|N|
C1864663|Hypomyelination and congenital cataract (HCC) is usually characterized by bilateral congenital cataracts and normal psychomotor or only mildly delayed development in the first year of life, followed by slowly progressive neurologic impairment manifest as ataxia, spasticity (brisk tendon reflexes and bilateral extensor plantar responses), and mild-to-moderate cognitive impairment. Dysarthria and truncal hypotonia are observed. Cerebellar signs (truncal titubation and intention tremor) and peripheral neuropathy (muscle weakness and wasting of the legs) are present in the majority of affected individuals. Seizures can occur. Cataracts may be absent in some individuals.|GeneReviews|N|
C1864668|Progressive external ophthalmoplegia-4 is an autosomal dominant form of mitochondrial disease that variably affects skeletal muscle, the nervous system, the liver, and the gastrointestinal tract. Age at onset ranges from infancy to adulthood. The phenotype ranges from relatively mild, with adult-onset skeletal muscle weakness and weakness of the external eye muscles, to severe, with a multisystem disorder characterized by delayed psychomotor development, lactic acidosis, constipation, and liver involvement (summary by Young et al., 2011).
For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant progressive external ophthalmoplegia, see PEOA1 (157640).|OMIM|N|
C1864669|The neuronal ceroid lipofuscinoses (NCL; CLN) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally. The clinical course includes progressive dementia, seizures, and progressive visual failure (Mole et al., 2005).
For a discussion of genetic heterogeneity of neuronal ceroid lipofuscinosis, see CLN1 (256730).|OMIM|N|
C1864670|Congenital neuronal ceroid lipofuscinosis (CNCL) is a severe form of neuronal ceroid lipofuscinosis (NCL; see this term) with onset at birth characterized by primary microcephaly, neonatal epilepsy, and death in early infancy.|ORDO|N|
C1864689|This syndrome has characteristics of anophthalmia or microphthalmia, retinal dystrophy, and/or myopia, associated in some cases with cerebral anomalies. It has been described in two families. Polydactyly may also be present. Linkage analysis allowed identification of mutations in the BMP4 gene, which has already been shown to play a role in eye development.|SNOMEDCT_US|N|
C1864690|The association of a range of ocular anomalies (anophthalmia, microphthalmia and retinal abnormalities) with variable developmental delay and central nervous system malformations. Less than 20 cases have been reported in the literature so far. The clinical picture is highly variable, even between affected members of the same family. Severe developmental delay was noted in some patients, whilst others showed normal cognitive development. Pituitary dysfunction, leading to growth hormone deficiency and short stature, or combined pituitary hormone deficiency, has also been reported. The syndrome is caused by heterozygous mutations in the OTX2 gene (14q22.3).|SNOMEDCT_US|N|
C1864694|Patients with C7 deficiency have an increased susceptibility to recurrent bacterial infections, especially meningitis caused by Neisseria meningitidis (Nishizaka et al., 1996).|OMIM|N|
C1864695|Giant axonal neuropathy-2 is an autosomal dominant peripheral axonal neuropathy characterized by onset of distal sensory impairment and lower extremity muscle weakness and atrophy after the second decade. Foot deformities may be present in childhood. More severely affected individuals may develop cardiomyopathy. Sural nerve biopsy shows giant axonal swelling with neurofilament accumulation (summary by Klein et al., 2014).|OMIM|N|
C1864706|Distal myopathy-3 (MPD3) is an autosomal dominant skeletal muscle disorder characterized by adult onset of slowly progressive distal muscular weakness and atrophy affecting the upper and lower limbs, leading to difficulties using the hands and walking difficulties. Proximal muscle involvement may occur later in the disease, but patients typically remain ambulatory. Muscle biopsy shows myopathic changes with rimmed vacuoles (Hackman et al., 2021).|OMIM|N|
C1864715|Wasting of thenar muscles, which are located on palm of the hand at the base of the thumb.|HPO|N|
C1864716|Atrophy of the intrinsic muscle groups of the hand, comprising the thenar and hypothenar muscles; the interossei muscles; and the lumbrical muscles.|HPO|N|
C1864720|Any isolated microphthalmia in which the cause of the disease is a mutation in the VSX2 gene.|MONDO|N|
C1864721|Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the VSX2 gene.|MONDO|N|
C1864723|Untreated pyridox(am)ine 5'-phosphate oxidase (PNPO) deficiency, characterized by a range of seizure types, is "classic" (i.e., seizure onset in the neonatal period) in about 90% of affected individuals and "late onset" (seizure onset after the neonatal period) in about 10%. In classic PNPO deficiency, seizures (including status epilepticus) often begin on the first day of life and typically before age two weeks. In both classic and late-onset untreated PNPO deficiency, seizure semiology varies from myoclonic to clonic or tonic seizures, and seizures are typically resistant to common anti-seizure medications. Independent of age of onset, seizures respond to life-long treatment with a B6 vitamer: pyridoxal 5'-phosphate (PLP) in about 60% of affected individuals and pyridoxine (PN) in about 40%. About 60% of individuals with PNPO deficiency have developmental impairment, affecting speech, cognition, and behavior; some individuals have neurologic impairment such as muscular hypotonia or dystonia. Severe neurodevelopmental impairment is more likely to occur in individuals with PNPO deficiency who experienced diagnostic delay and prolonged periods of uncontrolled seizures.|GeneReviews|N|
C1864730|Hereditary mixed polyposis syndrome-2 (HMPS2) is characterized by colonic polyps of mixed hyperplastic, adenomatous, and occasional juvenile types. Polyposis eventually progresses to colorectal cancer (Cao et al., 2006).
For a discussion of genetic heterogeneity of HMPS, see HMPS1 (601228).|OMIM|N|
C1864733|Opioid addiction is a long-lasting (chronic) disease that can cause major health, social, and economic problems. Opioids are a class of drugs that act in the nervous system to produce feelings of pleasure and pain relief. Some opioids are legally prescribed by healthcare providers to manage severe and chronic pain. Commonly prescribed opioids include oxycodone, fentanyl, buprenorphine, methadone, oxymorphone, hydrocodone, codeine, and morphine. Some other opioids, such as heroin, are illegal drugs of abuse.\n\nOpioid addiction is characterized by a powerful, compulsive urge to use opioid drugs, even when they are no longer required medically. Opioids have a high potential for causing addiction in some people, even when the medications are prescribed appropriately and taken as directed. Many prescription opioids are misused or diverted to others. Individuals who become addicted may prioritize getting and using these drugs over other activities in their lives, often negatively impacting their professional and personal relationships. It is unknown why some people are more likely to become addicted than others.\n\nOpioids change the chemistry of the brain and lead to drug tolerance, which means that over time the dose needs to be increased to achieve the same effect. Taking opioids over a long period of time produces dependence, such that when people stop taking the drug, they have physical and psychological symptoms of withdrawal (such as muscle cramping, diarrhea, and anxiety). Dependence is not the same thing as addiction; although everyone who takes opioids for an extended period will become dependent, only a small percentage also experience the compulsive, continuing need for the drug that characterizes addiction.\n\nOpioid addiction can cause life-threatening health problems, including the risk of overdose. Overdose occurs when high doses of opioids cause breathing to slow or stop, leading to unconsciousness and death if the overdose is not treated immediately. Both legal and illegal opioids carry a risk of overdose if a person takes too much of the drug, or if opioids are combined with other drugs (particularly tranquilizers called benzodiazepines).|MedlinePlus Genetics|N|
C1864738|Congenital stromal corneal dystrophy is characterized by the presence of bilateral corneal opacities that can be seen at or shortly after birth. The surface of the cornea is normal or slightly irregular; small opacities are seen throughout the stroma of the entire cornea and give the cornea a cloudy appearance. Strabismus is common. Nystagmus is uncommon. Amblyopia can develop in children.|GeneReviews|N|
C1864746|Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the COL11A2 gene.|MONDO|N|
C1864784|Talo-patello-scaphoid osteolysis is an extremely rare form of primary osteolysis (see this term), described in two sisters to date, characterized by bilateral osteolysis of the tali, scaphoids, and patellae (accompanied by periarticular swelling and pain) and short fourth metacarpals (brachydactyly type E; see this term), in the absence of renal disease. Autosomal recessive inheritance has been suggested.|ORDO|N|
C1864794|Abnormal structure of the odontoid process, which is a part of the C2 or axis vertebra and forms pivot of the structures forming the craniovertebral junction. The odontoid process is also known as the dens of the axis.|HPO|N|
C1864795|Pectus carinatum affecting primarily the superior part of the sternum.|HPO|N|
C1864796|Pectus excavatum (defect of the chest wall characterized by depression of the sternum) affecting primarily the inferior region of the sternum.|HPO|N|
C1864801|Trichilemmal cysts, also known as pilar cysts or tricholemmal cysts, are derived from the outer root sheath of the deeper parts of a hair follicle and consist of a well-keratinized epidermal wall surrounding semisolid hair keratin. They occur predominantly on the scalp, are easily enucleated, and appear as a firm, smooth, white-walled cyst without a punctum (McGavran and Binnington, 1966; Pinkus, 1969; Leppard and Sanderson, 1976).|OMIM|N|
C1864815|An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 18p11.32-p11.31.|MONDO|N|
C1864818|Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ILDR1 gene.|MONDO|N|
C1864825|Frias syndrome is characterized by mild exophthalmia, palpebral ptosis, hypertelorism, short square hands with minimal proximal syndactyly between the second and third fingers, small broad great toes, and short stature. Some patients may exhibit bilateral pedunculated postminimi (summary by Martinez-Fernandez et al., 2014).|OMIM|N|
C1864826|Lethal acantholytic epidermolysis bullosa (EBLA) is an autosomal recessive skin disorder characterized by extensive epidermal dislodgment, universal alopecia, and anonychia. Cardiac involvement may be present. Death occurs in the neonatal period (summary by Hobbs et al., 2010).|OMIM|N|
C1864827|Holoprosencephaly associated with mutations in the ZIC2 gene.|NCI|N|
C1864828|An Alzheimer's disease that is characterized by an associated with variation in the region 7q36.|MONDO|N|
C1864839|RCAD is associated with a combination of diabetes and kidney or urinary tract abnormalities (unrelated to the elevated blood glucose), most commonly fluid-filled sacs (cysts) in the kidneys. However, the signs and symptoms are variable, even within families, and not everyone with RCAD has both features. Affected individuals may have other features unrelated to diabetes, such as abnormalities of the pancreas or liver or a form of arthritis called gout.\n\nGCK-MODY is a very mild type of the condition. People with this type have slightly elevated blood glucose levels, particularly in the morning before eating (fasting blood glucose). However, affected individuals often have no symptoms related to the disorder, and diabetes-related complications are extremely rare.\n\nHNF1A-MODY and HNF4A-MODY have similar signs and symptoms that develop slowly over time. Early signs and symptoms in these types are caused by high blood glucose and may include frequent urination (polyuria), excessive thirst (polydipsia), fatigue, blurred vision, weight loss, and recurrent skin infections. Over time uncontrolled high blood glucose can damage small blood vessels in the eyes and kidneys. Damage to the light-sensitive tissue at the back of the eye (the retina) causes a condition known as diabetic retinopathy that can lead to vision loss and eventual blindness. Kidney damage (diabetic nephropathy) can lead to kidney failure and end-stage renal disease (ESRD). While these two types of MODY are very similar, certain features are particular to each type. For example, babies with HNF4A-MODY tend to weigh more than average or have abnormally low blood glucose at birth, even though other signs of the condition do not occur until childhood or young adulthood. People with HNF1A-MODY have a higher-than-average risk of developing noncancerous (benign) liver tumors known as hepatocellular adenomas.\n\nThe different types of MODY are distinguished by their genetic causes. The most common types are HNF1A-MODY (also known as MODY3), accounting for 50 to 70 percent of cases, and GCK-MODY (MODY2), accounting for 30 to 50 percent of cases. Less frequent types include HNF4A-MODY (MODY1) and renal cysts and diabetes (RCAD) syndrome (also known as HNF1B-MODY or MODY5), which each account for 5 to 10 percent of cases. At least ten other types have been identified, and these are very rare.\n\nMaturity-onset diabetes of the young (MODY) is a group of several conditions characterized by abnormally high levels of blood glucose, also called blood sugar. These forms of diabetes typically begin before age 30, although they can occur later in life. In MODY, elevated blood glucose arises from reduced production of insulin, which is a hormone produced in the pancreas that helps regulate blood glucose levels. Specifically, insulin controls how much glucose (a type of sugar) is passed from the blood into cells, where it is used as an energy source.|MedlinePlus Genetics|N|
C1864840|Combined oxidative phosphorylation deficiency type 3 is an extremely rare clinically heterogenous disorder described in about 5 patients to date. Clinical signs included hypotonia, lactic acidosis, and hepatic insufficiency, with progressive encephalomyopathy or hypertrophic cardiomyopathy.|ORDO|N|
C1864843|A rare mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by severe intrauterine growth retardation, neonatal limb edema and redundant skin on the neck (hydrops), developmental brain defects (corpus callosum agenesis, ventriculomegaly), brachydactyly, dysmorphic facial features with low set ears, severe intractable neonatal lactic acidosis with lethargy, hypotonia, absent spontaneous movements and fatal outcome. Markedly decreased activity of complex I, II + III and IV in muscle and liver have been determined.|SNOMEDCT_US|N|
C1864846|Primary pigmented nodular adrenocortical disease (PPNAD) is a form of ACTH-independent adrenal hyperplasia resulting in Cushing syndrome. It is usually seen as a manifestation of the Carney complex (CNC1; 160980), a multiple neoplasia syndrome. However, PPNAD can also occur in isolation (Groussin et al., 2002).
Genetic Heterogeneity of Primary Pigmented Nodular Adrenocortical Disease
See also PPNAD2 (610475), caused by mutation in the PDE11A gene (604961) on chromosome 2q31; PPNAD3 (614190), caused by mutation in the PDE8B gene (603390) on chromosome 5q13; and PPNAD4 (615830), caused by a duplication on chromosome 19p13 that includes the PRKACA gene (601639).|OMIM|N|
C1864848|A rare syndromic agammaglobulinemia characterized by profound B-cell depletion (with normal T-cell numbers) resulting in agammaglobulinemia, associated with severe developmental delay, microcephaly, craniosynostosis, cleft palate, narrowing of the choanae, blepharophimosis, and severe dermatitis. Additional reported features include distal joint contractures, renal/genitourinary anomalies, and mild cerebral atrophy, among others.|ORDO|N|
C1864849|Any cone dystrophy in which the cause of the disease is a mutation in the CACNA2D4 gene.|MONDO|N|
C1864850|Arrhythmogenic right ventricular cardiomyopathy (ARVC) – previously referred to as arrhythmogenic right ventricular dysplasia (ARVD) – is characterized by progressive fibrofatty replacement of the myocardium that predisposes to ventricular tachycardia and sudden death in young individuals and athletes. It primarily affects the right ventricle, and it may also involve the left ventricle. The presentation of disease is highly variable even within families, and some affected individuals may not meet established clinical criteria. The mean age at diagnosis is 31 years (±13; range: 4-64 years).|GeneReviews|N|
C1864851|Any primary pigmented nodular adrenocortical disease in which the cause of the disease is a mutation in the PDE11A gene.|MONDO|N|
C1864852|This syndrome has characteristics of camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth.|SNOMEDCT_US|N|
C1864853|Increased top to bottom height of vertebral bodies.|HPO|N|
C1864868|Buruli ulcer is an infectious disease prevalent in many tropical and subtropical regions caused by infection with Mycobacterium ulcerans. It is the third most frequent mycobacterial disease in humans worldwide, after tuberculosis (607948) and leprosy (246300). Lesions are most common on exposed parts of the body, especially the limbs. Buruli ulcer derives its name from a county in Uganda, East Africa, north of Kampala, where the disease was found in the late 1950s in hundreds of people living near marshes and riverine areas near the Nile River (Clancey et al., 1961; Barker, 1971). The disease was first described in the medical literature in 1948 in a report on patients in Australia (MacCallum et al., 1948). Patients have also been reported from tropical areas in Latin America and Asia (Stienstra et al., 2006; van der Werf et al., 2005).|OMIM|N|
C1864869|Any congenital stationary night blindness in which the cause of the disease is a mutation in the RHO gene.|MONDO|N|
C1864870|A congenital stationary night blindness characterized by autosomal dominant inheritance that has material basis in heterozygous mutation in the GNAT1 gene on chromosome 3p21.|MONDO|N|
C1864871|Koolen-de Vries syndrome (KdVS) is characterized by developmental delay / intellectual disability, neonatal/childhood hypotonia, dysmorphisms, congenital malformations, and behavioral features. Psychomotor developmental delay is noted in all individuals from an early age. The majority of individuals with KdVS function in the mild-to-moderate range of intellectual disability. Other findings include speech and language delay (100%), epilepsy (~33%), congenital heart defects (25%-50%), renal and urologic anomalies (25%-50%), and cryptorchidism (71% of males). Behavior in most is described as friendly, amiable, and cooperative.|GeneReviews|N|
C1864872|Spondyloepiphyseal dysplasia of the Genevieve type (SEMDG) is characterized by infantile-onset severe developmental delay and skeletal dysplasia, including short stature, premature carpal ossification, platyspondyly, longitudinal metaphyseal striations, and small epiphyses (summary by van Karnebeek et al., 2016).|OMIM|N|
C1864873|Testicular microlithiasis, the deposition of calcium phosphate microliths within the seminiferous tubules, has a population prevalence of 0.6 to 9% (Kim et al., 2003). Middleton et al. (2002) found that it was associated with a majority of primary testicular malignancies. Miller and Sidhu (2002) found that it was present in 1% of male idiopathic infertility cases.|OMIM|N|
C1864874|Restless legs syndrome (RLS) is a neurologic sleep/wake disorder characterized by uncomfortable and unpleasant sensations in the legs that appear at rest, usually at night, inducing an irresistible desire to move the legs. The disorder results in nocturnal insomnia and chronic sleep deprivation (Bonati et al., 2003).
For additional information and a discussion of genetic heterogeneity of restless legs syndrome, see RLS1 (102300).|OMIM|N|
C1864875|Restless legs syndrome (RLS) is a neurologic sleep/wake disorder characterized by uncomfortable and unpleasant sensations in the legs that appear at rest, usually at night, inducing an irresistible desire to move the legs. The disorder results in nocturnal insomnia and chronic sleep deprivation (Bonati et al., 2003).
For additional information and a discussion of genetic heterogeneity of restless legs syndrome, see RLS1 (102300).|OMIM|N|
C1864880|HBV is a DNA virus that enters the liver via the bloodstream, and replication occurs only in liver tissue. Transmission occurs by percutaneous or mucosal exposure to infected blood or other body fluids. Approximately one third of all cases of cirrhosis and half of all cases of hepatocellular carcinoma (HCC; 114550) can be attributed to chronic HBV infection. Worldwide, 2 billion people have been infected with HBV, 360 million have chronic infection, and 600,000 die each year from HBV-related liver disease or HCC. However, there is marked geographic variability in HBV prevalence, with chronic infection affecting less than 2% of the populations of North America and western and northern Europe; between 2 and 7% of the populations of eastern and central Europe, the Amazon basin, the Middle East, and the Indian subcontinent; and more than 8% of the populations of Asia, sub-Saharan Africa, and the Pacific (Seeff and Hoofnagle, 2006; Shepard et al., 2006).|OMIM|N|
C1864900|Achromatopsia is characterized by reduced visual acuity, pendular nystagmus, increased sensitivity to light (photophobia), a small central scotoma, eccentric fixation, and reduced or complete loss of color discrimination. All individuals with achromatopsia (achromats) have impaired color discrimination along all three axes of color vision corresponding to the three cone classes: the protan or long-wavelength-sensitive cone axis (red), the deutan or middle-wavelength-sensitive cone axis (green), and the tritan or short-wavelength-sensitive cone axis (blue). Most individuals have complete achromatopsia, with total lack of function of all three types of cones. Rarely, individuals have incomplete achromatopsia, in which one or more cone types may be partially functioning. The manifestations are similar to those of individuals with complete achromatopsia, but generally less severe. Hyperopia is common in achromatopsia. Nystagmus develops during the first few weeks after birth followed by increased sensitivity to bright light. Best visual acuity varies with severity of the disease; it is 20/200 or less in complete achromatopsia and may be as high as 20/80 in incomplete achromatopsia. Visual acuity is usually stable over time; both nystagmus and sensitivity to bright light may improve slightly. Although the fundus is usually normal, macular changes (which may show early signs of progression) and vessel narrowing may be present in some affected individuals. Defects in the macula are visible on optical coherence tomography.|GeneReviews|N|
C1864902|The severity of congenital hyperinsulinism varies widely among affected individuals, even among members of the same family. About 60 percent of infants with this condition experience a hypoglycemic episode within the first month of life. Other affected children develop hypoglycemia by early childhood. Unlike typical episodes of hypoglycemia, which occur most often after periods without food (fasting) or after exercising, episodes of hypoglycemia in people with congenital hyperinsulinism can also occur after eating.\n\nCongenital hyperinsulinism is a condition that causes individuals to have abnormally high levels of insulin. Insulin is a hormone that helps control levels of blood glucose, also called blood sugar. People with this condition have frequent episodes of low blood glucose (hypoglycemia). In infants and young children, these episodes are characterized by a lack of energy (lethargy), irritability, or difficulty feeding. Repeated episodes of low blood glucose increase the risk for serious complications such as breathing difficulties, seizures, intellectual disability, vision loss, brain damage, and coma.|MedlinePlus Genetics|N|
C1864903|An increased concentration of insulin combined with a decreased concentration of glucose in the blood.|HPO|N|
C1864908|Mutations in the FYCO1 gene have been identified in families with autosomal recessive cataract described as congenital and congenital nuclear.
The preferred title/symbol of this entry was formerly 'Cataract, Autosomal Recessive Congenital 2; CATC2.'|OMIM|N|
C1864910|Congenital glutamine deficiency is a severe autosomal recessive disorder characterized by onset at birth of encephalopathy, lack of normal development, seizures, and hypotonia associated with variable brain abnormalities (summary by Haberle et al., 2011).|OMIM|N|
C1864912|2-Methylbutyryl-CoA dehydrogenase deficiency is an autosomal recessive metabolic disorder of impaired isoleucine degradation. It is most often ascertained via newborn screening and is usually clinically asymptomatic, although some patients have been reported to have delayed development and neurologic signs. Therefore, the clinical relevance of the deficiency is unclear (Sass et al., 2008).|OMIM|N|
C1864923|The neuronal ceroid lipofuscinoses (NCL; CLN) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally. The lipopigment patterns observed most often in CLN8 comprise mixed combinations of 'granular,' 'curvilinear,' and 'fingerprint' profiles (Mole et al., 2005).
For a general phenotypic description and a discussion of genetic heterogeneity of CLN, see CLN1 (256730).|OMIM|N|
C1864940|Myopia, or nearsightedness, is a refractive error of the eye. Light rays from a distant object are focused in front of the retina and those from a near object are focused in the retina; therefore distant objects are blurry and near objects are clear (summary by Kaiser et al., 2004).
For a discussion of genetic heterogeneity of susceptibility to myopia, see 160700.|OMIM|N|
C1864941|Myopia, or nearsightedness, is a refractive error of the eye. Light rays from a distant object are focused in front of the retina and those from a near object are focused in the retina; therefore distant objects are blurry and near objects are clear (summary by Kaiser et al., 2004).
For a discussion of genetic heterogeneity of susceptibility to myopia, see 160700.|OMIM|N|
C1864942|A rare genetic disease characterized by sclerosing dysplasia affecting the diaphyseal and metaphyseal regions of the long bones, as well as the skull and metacarpals, in association with skin changes like those seen in ichthyosis vulgaris and premature ovarian failure with bilateral hypoplasia of the ovaries. Patients present in adulthood, primarily with swelling of the extremities and occasional mild pain in the legs.|ORDO|N|
C1864947|Immunodeficiency-54 is an autosomal recessive primary immunodeficiency characterized by severe intra- and extrauterine growth retardation, microcephaly, decreased numbers of natural killer (NK) cells, and recurrent viral infections, most often affecting the respiratory tract and leading to respiratory failure. Affected individuals also have adrenal insufficiency requiring corticosteroid replacement therapy and may have an increased susceptibility to cancer. Laboratory studies of patient cells showed a DNA repair defect (summary by Gineau et al., 2012).|OMIM|N|
C1864948|Congenital hyperinsulinism is a condition that causes individuals to have abnormally high levels of insulin. Insulin is a hormone that helps control levels of blood glucose, also called blood sugar. People with this condition have frequent episodes of low blood glucose (hypoglycemia). In infants and young children, these episodes are characterized by a lack of energy (lethargy), irritability, or difficulty feeding. Repeated episodes of low blood glucose increase the risk for serious complications such as breathing difficulties, seizures, intellectual disability, vision loss, brain damage, and coma.\n\nThe severity of congenital hyperinsulinism varies widely among affected individuals, even among members of the same family. About 60 percent of infants with this condition experience a hypoglycemic episode within the first month of life. Other affected children develop hypoglycemia by early childhood. Unlike typical episodes of hypoglycemia, which occur most often after periods without food (fasting) or after exercising, episodes of hypoglycemia in people with congenital hyperinsulinism can also occur after eating.|MedlinePlus Genetics|N|
C1864952|The severity of congenital hyperinsulinism varies widely among affected individuals, even among members of the same family. About 60 percent of infants with this condition experience a hypoglycemic episode within the first month of life. Other affected children develop hypoglycemia by early childhood. Unlike typical episodes of hypoglycemia, which occur most often after periods without food (fasting) or after exercising, episodes of hypoglycemia in people with congenital hyperinsulinism can also occur after eating.\n\nCongenital hyperinsulinism is a condition that causes individuals to have abnormally high levels of insulin. Insulin is a hormone that helps control levels of blood glucose, also called blood sugar. People with this condition have frequent episodes of low blood glucose (hypoglycemia). In infants and young children, these episodes are characterized by a lack of energy (lethargy), irritability, or difficulty feeding. Repeated episodes of low blood glucose increase the risk for serious complications such as breathing difficulties, seizures, intellectual disability, vision loss, brain damage, and coma.|MedlinePlus Genetics|N|
C1864954|An increased concentration of insulin in the blood in the fasting state, i.e., not as the response to food intake.|HPO|N|
C1864957|An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 14q11.2-q12.|MONDO|N|
C1864959|Asthma-related traits include clinical symptoms of asthma, such as coughing, wheezing, and dyspnea; bronchial hyperresponsiveness (BHR) as assessed by methacholine challenge test; serum IgE levels; atopy; and atopic dermatitis (Laitinen et al., 2001; Illig and Wjst, 2002; Pillai et al., 2006).
For a general phenotypic description and a discussion of genetic heterogeneity of asthma, see 600807.|OMIM|N|
C1864961|Asperger syndrome is considered to be a form of childhood autism (see, e.g., 209850). The DSM-IV (American Psychiatric Association, 1994) specifies several diagnostic criteria for Asperger syndrome, which has many of the same features as autism. In general, patients with Asperger syndrome and autism exhibit qualitative impairment in social interaction, as manifest by impairment in the use of nonverbal behaviors such as eye-to-eye gaze, facial expression, body postures, and gestures, failure to develop appropriate peer relationships, and lack of social sharing or reciprocity. Patients also exhibit restricted, repetitive and stereotyped patterns of behavior, interests, and activities, including abnormal preoccupation with certain activities and inflexible adherence to routines or rituals. Asperger syndrome is primarily distinguished from autism by the higher cognitive abilities and a more normal and timely development of language and communicative phrases. Gillberg et al. (2001) described the development of the Asperger syndrome (and high-functioning autism) Diagnostic Interview (ASDI), which they claimed has a strong validity in the diagnosis of the disorder.
For a discussion of genetic heterogeneity of Asperger syndrome, see ASPG1 (608638).|OMIM|N|
C1864962|An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 4q12-q13.2.|MONDO|N|
C1864964|An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 2p25.1-p24.3.|MONDO|N|
C1864968|An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 11p13-p12.|MONDO|N|
C1864987|Familial hemiplegic migraine (FHM) falls within the category of migraine with aura. In migraine with aura (including FHM) the neurologic symptoms of aura are unequivocally localizable to the cerebral cortex or brain stem and include visual disturbance (most common), sensory loss (e.g., numbness or paresthesias of the face or an extremity), and dysphasia (difficulty with speech). FHM must include motor involvement, such as hemiparesis (weakness of an extremity). Hemiparesis occurs with at least one other symptom during FHM aura. Neurologic deficits with FHM attacks can be prolonged for hours to days and may outlast the associated migrainous headache. FHM is often earlier in onset than typical migraine, frequently beginning in the first or second decade; the frequency of attacks tends to decrease with age. Approximately 40%-50% of families with CACNA1A-FHM have cerebellar signs ranging from nystagmus to progressive, usually late-onset mild ataxia.|GeneReviews|N|
C1864996|Familial visceral neuropathy-3 (VSCN3) is an autosomal dominant disorder in which affected individuals experience gastrointestinal symptoms, including esophageal dysmotility and chronic intestinal pseudoobstruction, due to abnormalities of the intestinal myenteric plexus. Nonintestinal abnormalities, including pupillary abnormalities and peripheral neuropathy, may also be present (summary by Roper et al., 2005).
For a discussion of genetic heterogeneity of familial visceral neuropathy, see VSCN1 (243180).|OMIM|N|
C1864997|Majeed syndrome (MJDS) is an autosomal recessive pediatric multisystem autoinflammatory disorder characterized by chronic recurrent multifocal osteomyelitis (CRMO) and congenital dyserythropoietic anemia; some patients may also develop neutrophilic dermatosis. Additional features may include fever, failure to thrive, and neutropenia. Laboratory studies show elevated inflammatory markers consistent with activation of the proinflammatory IL1 (147760) pathway (summary by Ferguson and El-Shanti, 2021).
Genetic Heterogeneity of Chronic Recurrent Multifocal Osteomyelitis
See also CRMO2 (612852), caused by mutation in the IL1RN gene (147679) on chromosome 2q14; and CRMO3 (259680), caused by mutation in the IL1R1 gene (147810) on chromosome 2q12.|OMIM|N|
C1865014|Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border.|HPO|N|
C1865017|Height of the vermilion of the upper lip in the midline more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the upper lip in the frontal view (subjective).|HPO|N|
C1865018|Short QT syndrome is a cardiac channelopathy associated with a predisposition to atrial fibrillation and sudden cardiac death. Patients have a structurally normal heart, but electrocardiography (ECG) exhibits abbreviated QTc (Bazett's corrected QT) intervals of less than 360 ms (summary by Moreno et al., 2015).
For a discussion of genetic heterogeneity of short QT syndrome, see SQT1 (609620).|OMIM|N|
C1865019|Short QT syndrome is a cardiac channelopathy associated with a predisposition to atrial fibrillation and sudden cardiac death. Patients have a structurally normal heart, but electrocardiography (ECG) exhibits abbreviated QTc (Bazett's corrected QT) intervals of less than 360 ms (summary by Moreno et al., 2015).
For a discussion of genetic heterogeneity of short QT syndrome, see SQT1 (609620).|OMIM|N|
C1865020|Short QT syndrome (SQT) is a cardiac channelopathy associated with a predisposition to atrial fibrillation and sudden cardiac death. Patients have a structurally normal heart, but electrocardiography (ECG) exhibits abbreviated QTc (Bazett's corrected QT) intervals of less than 360 ms (summary by Moreno et al., 2015).
Genetic Heterogeneity of Short QT Syndrome
Short QT syndrome-2 (SQT2; 609621) is caused by mutation in the KCNQ1 gene (607542). SQT3 (609622) is caused by mutation in the KCNJ2 gene (600681). SQT7 (620231) is caused by mutation in the SLC4A3 gene (106195).|OMIM|N|
C1865027|Underdevelopment of the ilium ala.|HPO|N|
C1865030|Underdevelopment of the pubis, which together with the ilium and the ischium, is one of the three bones that make up the hip bone.|HPO|N|
C1865035|Abnormally large size of one or more growth plates (epiphyses) of the metacarpal bones (i.e., the tubular bones of the hand between the carpus and the phalanges).|HPO|N|
C1865036|Abnormally large size of the epiphyses of the phalanges of the fingers with respect to age-dependent norms.|HPO|N|
C1865037|Cone-shaped epiphyses (also known as coned epiphyses) are epiphyses that invaginate into cupped metaphyses. That is, the epiphysis has a cone-shaped distal extension resulting from increased growth of the central portion of the epiphysis relative to its periphery.|HPO|N|
C1865038|Visible increase in width of the non-hallux digit without an increase in the dorso-ventral dimension.|HPO|N|
C1865039|Wide, concave rib end.|HPO|N|
C1865044|Enlarged parietal foramina are characteristic symmetric, paired radiolucencies of the parietal bones, located close to the intersection of the sagittal and lambdoid sutures, caused by deficient ossification around the parietal notch, which is normally obliterated by the fifth month of fetal development. Enlarged parietal foramina are usually asymptomatic. Meningeal, cortical, and vascular malformations of the posterior fossa occasionally accompany the bone defects and may predispose to epilepsy. In a minority of individuals, headaches, vomiting, or intense local pain are sometimes associated with the defects, especially on application of mild pressure to the unprotected cerebral cortex.|GeneReviews|N|
C1865060|An abnormal appearance of the midbrain in axial magnetic resonance imaging in which the elongated superior cerebellar peduncles give the midbrain an appearance reminiscent of a molar or wisdom tooth.|HPO|N|
C1865070|Familial scaphocephaly syndrome, McGillivray type is a rare newly described craniosynostosis (see this term) syndrome characterized by scaphocephaly, macrocephaly, severe maxillary retrusion, and mild intellectual disability.|ORDO|N|
C1865128|Irregularity of the normally smooth surface of the metaphysis at the proximal end of the humerus (at the shoulder).|HPO|N|
C1865133|A rare multiple congenital anomalies syndrome characterized by the association of camptodactyly, multiple eye defects (fibrosis of the medial rectus muscle, severe myopia, ptosis and exophthalmos), scoliosis, flexion contractures and facial anomalies (arched eyebrows, facial asymmetry with an abnormal skull shape, a prominent nose, small mouth, low-set and dysplastic ears, and a low nuchal hairline).|ORDO|N|
C1865134|Spondyloepiphyseal dysplasia Nishimura type is characterized by spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate and intellectual deficit.|ORDO|N|
C1865139|An instance of pancreas lymphoma that is caused by an inherited modification of the individual's genome.|MONDO|N|
C1865143|Branchiootorenal spectrum disorder (BORSD) is characterized by malformations of the outer, middle, and inner ear associated with conductive, sensorineural, or mixed hearing impairment, branchial fistulae and cysts, and renal malformations ranging from mild renal hypoplasia to bilateral renal agenesis. Some individuals progress to end-stage renal disease (ESRD) later in life. Extreme variability can be observed in the presence, severity, and type of branchial arch, otologic, audiologic, and renal abnormality from right side to left side in an affected individual and also among individuals in the same family.|GeneReviews|N|
C1865145|Congenital disorders of glycosylation (CDGs) are a genetically heterogeneous group of autosomal recessive disorders caused by enzymatic defects in the synthesis and processing of asparagine (N)-linked glycans or oligosaccharides on glycoproteins. Type I CDGs comprise defects in the assembly of the dolichol lipid-linked oligosaccharide (LLO) chain and its transfer to the nascent protein. These disorders can be identified by a characteristic abnormal isoelectric focusing profile of plasma transferrin (Leroy, 2006).
For a discussion of the classification of CDGs, see CDG1A (212065).
CDG Ib is clinically distinct from most other CDGs by the lack of significant central nervous system involvement. The predominant symptoms are chronic diarrhea with failure to thrive and protein-losing enteropathy with coagulopathy. Some patients develop hepatic fibrosis. CDG Ib is also different from other CDGs in that it can be treated effectively with oral mannose supplementation, but can be fatal if untreated (Marquardt and Denecke, 2003). Thus, CDG Ib should be considered in the differential diagnosis of patients with unexplained hypoglycemia, chronic diarrhea, liver disease, or coagulopathy in order to allow early diagnosis and effective therapy (Vuillaumier-Barrot et al., 2002)
Freeze and Aebi (1999) reviewed CDG Ib and CDG Ic (603147). Marques-da-Silva et al. (2017) systematically reviewed the literature concerning liver involvement in CDG.|OMIM|N|
C1865181|Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome is a rare developmental defect during embryogenesis disorder characterized by macroblepharon, ectropion, and facial dysmorphism which includes severe hypertelorism, downslanting palpebral fissures, posteriorly rotated ears, broad nasal bridge, long and smooth philtrum, and macrostomia with thin upper lip vermilion border. Other features may include large fontanelles, prominent metopic ridge, thick eyebrows, mild synophrys, increased density of upper eyelashes, anterverted nares, abnormal dentition and capillary hemangioma.|ORDO|N|
C1865184|A very rare disorder with characteristics of intrauterine growth retardation, under-ossification of the skull with large fontanelles, short limbs with absent phalanges and finger and toe syndactyly. Only 4 cases have been reported in the literature in 3 unrelated families. Dysmorphic features include narrow face with small palpebral fissures, small pointed nose, microstomia, micrognathia and low-set and posteriorly rotated ears. A posterior encephalocele and other congenital malformations can be observed. Prognosis is poor.|SNOMEDCT_US|N|
C1865185|Shohat-type spondyloepimetaphyseal dysplasia (SEMDSH) is a chondrodysplasia characterized by vertebral, epiphyseal, and metaphyseal abnormalities, including scoliosis with vertebral compression fractures, flattened vertebral bodies, and hypomineralization of long bones. Affected individuals may exhibit a small trunk, short neck, small limbs, joint laxity, bowlegs, and/or abdominal distention with hepatosplenomegaly (summary by Egunsola et al., 2017).|OMIM|N|
C1865186|The rib cage has the shape of a wide mouthed bell. That is, the superior portion of the rib cage is constricted, followed by a convex region, and the inferior portion of the rib cage expands again to have a large diameter.|HPO|N|
C1865205|A dystonia characterized by autosomal dominant inheritance of generalized dystonia with severe involvement of the legs, mild involvement of the face and arms, and onset in infancy.|MONDO|N|
C1865208|Distal monosomy 13q is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 13, with a highly variable phenotype typically characterized by varying degrees of intellectual disability and developmental delay, as well as CNS malformations (e.g. holoprosencephaly, anencephaly, ventriculomegaly, Dandy-Walker malformation), ocular abnormalities (e.g. hypertelorism, microphthalmia, strabismus, aniridia, retinal dysplasia) and craniofacial dysmorphism (microcephaly, trigonocephaly, large and malformed ears, broad prominent nasal bridge, micrognathia). Cardiac, genitourinary, gastrointestinal and skeletal manifestations have also been reported.|ORDO|N|
C1865233|Megaconial-type congenital muscular dystrophy (MDCMC) is an autosomal recessive disorder characterized by early-onset muscle wasting and impaired intellectual development. Some patients develop fatal cardiomyopathy. Muscle biopsy shows peculiar enlarged mitochondria that are prevalent toward the periphery of the fibers but are sparse in the center (summary by Mitsuhashi et al., 2011).|OMIM|N|
C1865234|Hystrix-like ichthyosis with deafness (HID) is a disorder characterized by dry, scaly skin (ichthyosis) and hearing loss that is usually profound. Hystrix-like means resembling a porcupine; in this type of ichthyosis, the scales may be thick and spiky, giving the appearance of porcupine quills.\n\nNewborns with HID typically develop reddened skin. The skin abnormalities worsen over time, and the ichthyosis eventually covers most of the body, although the palms of the hands and soles of the feet are usually only mildly affected. Breaks in the skin may occur and in severe cases can lead to life-threatening infections. Affected individuals have an increased risk of developing a type of skin cancer called squamous cell carcinoma, which can also affect mucous membranes such as the inner lining of the mouth. People with HID may also have patchy hair loss caused by scarring on particular areas of skin.|MedlinePlus Genetics|N|
C1865244|Reduced depth of the orbits associated with prominent-appearing ocular globes.|HPO|N|
C1865254|Abnormal increase in width of the distal region of the metacarpal bones.|HPO|N|
C1865267|Grange syndrome (GRNG) is a rare early-onset disease characterized by hypertension and multifocal stenoocclusive lesions of renal, cerebral, and abdominal arteries. Bone fragility, syndactyly, brachydactyly, congenital heart defects, and learning disabilities have been reported with variable expressivity and incomplete penetrance (summary by Rath et al., 2019).|OMIM|N|
C1865270|Bartter syndrome refers to a group of disorders that are unified by autosomal recessive transmission of impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and hypercalciuria. Clinical disease results from defective renal reabsorption of sodium chloride in the thick ascending limb (TAL) of the Henle loop, where 30% of filtered salt is normally reabsorbed (Simon et al., 1997).
Patients with antenatal (or neonatal) forms of Bartter syndrome typically present with premature birth associated with polyhydramnios and low birth weight and may develop life-threatening dehydration in the neonatal period. Patients with classic Bartter syndrome (see BARTS3, 607364) present later in life and may be sporadically asymptomatic or mildly symptomatic (summary by Simon et al., 1996 and Fremont and Chan, 2012).
For a discussion of genetic heterogeneity of Bartter syndrome, see 607364.|OMIM|N|
C1865276|Obliteration of the glomerular capillary lumen by increased collagenous matrix, with or without hyalinosis or foam cells. Sclerosis involves 100% of the glomerular tuft. Relative to other patent glomeruli in the sample, glomerular size is preserved, or increased/decreased by no more than 50%.|HPO|N|
C1865279|Abnormally increased production of urine by the fetus resulting in polyhydramnios.|HPO|N|
C1865285|PIK3CA-related overgrowth spectrum (PROS) encompasses a range of clinical findings in which the core features are congenital or early-childhood onset of segmental/focal overgrowth with or without cellular dysplasia. Prior to the identification of PIK3CA as the causative gene, PROS was separated into distinct clinical syndromes based on the tissues and/or organs involved (e.g., MCAP [megalencephaly-capillary malformation] syndrome and CLOVES [congenital lipomatous asymmetric overgrowth of the trunk, lymphatic, capillary, venous, and combined-type vascular malformations, epidermal nevi, skeletal and spinal anomalies] syndrome). The predominant areas of overgrowth include the brain, limbs (including fingers and toes), trunk (including abdomen and chest), and face, all usually in an asymmetric distribution. Generalized brain overgrowth may be accompanied by secondary overgrowth of specific brain structures resulting in ventriculomegaly, a markedly thick corpus callosum, and cerebellar tonsillar ectopia with crowding of the posterior fossa. Vascular malformations may include capillary, venous, and less frequently, arterial or mixed (capillary-lymphatic-venous or arteriovenous) malformations. Lymphatic malformations may be in various locations (internal and/or external) and can cause various clinical issues, including swelling, pain, and occasionally localized bleeding secondary to trauma. Lipomatous overgrowth may occur ipsilateral or contralateral to a vascular malformation, if present. The degree of intellectual disability appears to be mostly related to the presence and severity of seizures, cortical dysplasia (e.g., polymicrogyria), and hydrocephalus. Many children have feeding difficulties that are often multifactorial in nature. Endocrine issues affect a small number of individuals and most commonly include hypoglycemia (largely hypoinsulinemic hypoketotic hypoglycemia), hypothyroidism, and growth hormone deficiency.|GeneReviews|N|
C1865286|A rare genetic eye disease with characteristics of microcornea, coloboma of the iris and the optic disc, axial enlargement of the globe, staphyloma and severe myopia. Additional manifestations are mild cornea plana, iridocorneal angle abnormalities with elevation of intraocular pressure and shallow anterior chamber depth. Variable expressivity of the phenotype has been described, including unilateral or bilateral involvement or variable extent of coloboma among other features.|SNOMEDCT_US|N|
C1865289|An inherited susceptibility or predisposition to developing familial combined hyperlipidemia, in which the cause of the disease is a mutation in the USF1 gene.|MONDO|N|
C1865290|Congenital hyperinsulinism is a condition that causes individuals to have abnormally high levels of insulin. Insulin is a hormone that helps control levels of blood glucose, also called blood sugar. People with this condition have frequent episodes of low blood glucose (hypoglycemia). In infants and young children, these episodes are characterized by a lack of energy (lethargy), irritability, or difficulty feeding. Repeated episodes of low blood glucose increase the risk for serious complications such as breathing difficulties, seizures, intellectual disability, vision loss, brain damage, and coma.\n\nThe severity of congenital hyperinsulinism varies widely among affected individuals, even among members of the same family. About 60 percent of infants with this condition experience a hypoglycemic episode within the first month of life. Other affected children develop hypoglycemia by early childhood. Unlike typical episodes of hypoglycemia, which occur most often after periods without food (fasting) or after exercising, episodes of hypoglycemia in people with congenital hyperinsulinism can also occur after eating.|MedlinePlus Genetics|N|
C1865294|Pelvic dysplasia-arthrogryposis of lower limbs syndrome is a rare, genetic, dysostosis syndrome characterized by intrauterine growth restriction, short stature (with short lower segment), lower limb joint contractures and muscular hypotrophy, narrow, small pelvis, lumbar hyperlordosis with scoliosis, and foot deformity (short, overlapping toes). Imaging reveals ovoid/wedge-shaped vertebral bodies, pelvic and skeletal hypoplasia with metatarsal fusion in the lower limbs, and normal skull and upper limbs.|ORDO|N|
C1865295|Auriculocondylar syndrome-1 (ARCND1) is an autosomal dominant disorder of the first and second pharyngeal arches and is characterized by malformed ears (question mark ears), prominent cheeks, microstomia, abnormal temporomandibular joint, and mandibular condyle hypoplasia (summary by Masotti et al., 2008).
Genetic Heterogeneity of Auriculocondylar Syndrome
See also ARCND2A (614669), caused by heterozygous mutation in the PLCB4 gene (600810) on chromosome 20p12.3-p12.2; ARCND2B (620458), caused by biallelic mutation in the PLCB4 gene; ARCND3 (615706), caused by mutation in the EDN1 gene (131240) on chromosome 6p24; and ARCND4 (620457), caused by mutation the HDAC9 gene (606543) on chromosome 7p21.
See also 612798 for isolated question mark ears.
Reviews
Kokitsu-Nakata et al. (2012) tabulated clinical findings in 24 reported cases of auriculocondylar syndrome. The most common clinical signs observed were ear constriction (100%), abnormal temporomandibular joint (100%), mandibular condyle abnormality (93%), malocclusion (93%), round face (78%), microstomia (78%), micrognathia (78%), prominent cheeks (74%), hearing loss (56%), abnormal palate (55%), and crowded teeth (50%). The authors noted that the phenotype was highly variable in severity, even within families.
Liu et al. (2021) reviewed 19 published cases of ARCND1 and tabulated the common features, including micrognathia (79%), auricular malformation (68%), microstomia (67%), prominent cheeks (63%), mandibular hypoplasia (58%), and round face (58%). Asymmetry of mandibular and auricular malformations was present in 4 patients, and the lesions were either more severe on the right or only the right side was affected, suggesting a predilection for right-sided deformities. The authors also noted that severe cases mostly occurred in female patients. Prenatal findings were available in 3 patients, and all showed polyhydramnios, with 2 having micrognathia evident on ultrasonography. The authors suggested that severe micrognathia and mandibular hypoplasia accompanied by polyhydramnios might be prenatal indicators of ARCND.
Using a standardized questionnaire sent to referring physicians, Vegas et al. (2022) collected clinical data on 39 patients from 27 families with auriculocondylar syndrome and mutation in the GNAI3, PLCB4, or EDN1 genes. PLCB4 was the most common gene associated with ARCND, being mutated in 16 (59%) of the 27 families. Incomplete penetrance and/or variable expression was observed within families.|OMIM|N|
C1865304|A condition in which the superior portion of the helix is folded over to a greater degree than normal.|HPO|N|
C1865313|Impairment in the physical production of speech sounds.|HPO|N|
C1865318|An anomaly of the temporomandibular joint.|HPO|N|
C1865322|Familial hemiplegic migraine (FHM) falls within the category of migraine with aura. In migraine with aura (including FHM) the neurologic symptoms of aura are unequivocally localizable to the cerebral cortex or brain stem and include visual disturbance (most common), sensory loss (e.g., numbness or paresthesias of the face or an extremity), and dysphasia (difficulty with speech). FHM must include motor involvement, such as hemiparesis (weakness of an extremity). Hemiparesis occurs with at least one other symptom during FHM aura. Neurologic deficits with FHM attacks can be prolonged for hours to days and may outlast the associated migrainous headache. FHM is often earlier in onset than typical migraine, frequently beginning in the first or second decade; the frequency of attacks tends to decrease with age. Approximately 40%-50% of families with CACNA1A-FHM have cerebellar signs ranging from nystagmus to progressive, usually late-onset mild ataxia.|GeneReviews|N|
C1865332|Transient blurring of vision associated with the aura phase of migraine.|HPO|N|
C1865342|Mutation in the HCN2 gene can cause a spectrum of seizure disorders beginning in childhood or adolescence. Affected individuals may have simple febrile seizures or more complex afebrile seizures, including tonic-clonic, myoclonic, and photosensitive. Rare patients may have mild intellectual disability or behavioral problems (summary by Li et al., 2018).
For a general phenotypic description and a discussion of genetic heterogeneity of idiopathic generalized epilepsy, see EIG (600669).
For a phenotypic description and a discussion of genetic heterogeneity of familial febrile seizures, see FEB1 (121210).
For a general phenotypic description and a discussion of genetic heterogeneity of GEFS+, see 604233.|OMIM|N|
C1865343|Ossification of the posterior longitudinal ligament of the spine (OPLL) is a common degenerative spinal disorder that causes severe neurologic dysfunction in middle-aged and elderly populations. This ectopic ossification results in compression of the spinal cord and nerve root by the ossified ligament. Histologic studies of OPLL suggest that OPLL develops through a process of endochondral ossification (summary by Nakajima et al., 2016).|OMIM|N|
C1865349|Ethylmalonic encephalopathy (EE) is a severe, early-onset, progressive disorder characterized by developmental delay / mild-to-severe intellectual disability; generalized infantile hypotonia that evolves into hypertonia, spasticity, and (in some instances) dystonia; generalized tonic-clonic seizures; and generalized microvascular damage (diffuse and spontaneous relapsing petechial purpura, hemorrhagic suffusions of mucosal surfaces, and chronic hemorrhagic diarrhea). Infants sometimes have frequent vomiting and loss of social interaction. Speech is delayed and in some instances absent. Swallowing difficulties and failure to thrive are common. Children may be unable to walk without support and may be wheelchair bound. Neurologic deterioration accelerates following intercurrent infectious illness, and the majority of children die in the first decade.|GeneReviews|N|
C1865353|The concentration of ethylmalonic acid in the urine, normalized for urine concentration, is above the upper limit of normal.|HPO|N|
C1865361|Short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities (SAMS) is an autosomal recessive multiple congenital anomaly syndrome with features of a first and second branchial arch syndrome. Craniofacial abnormalities can lead to conductive hearing loss, respiratory insufficiency, and feeding difficulties. Additional features include rhizomelic skeletal anomalies as well as abnormalities of the shoulder and pelvic joints. Affected individuals may also have some features of a neurocristopathy or abnormal mesoderm development, such as urogenital anomalies, that are distinct from other branchial arch syndromes (summary by Parry et al., 2013).|OMIM|N|
C1865362|Bony fusion between the humerus and scapula, leading to an impairment in mobility of the affected shoulder joint.|HPO|N|
C1865363|Delayed maturation and calcification of the rami (branches) of the pubic bone.|HPO|N|
C1865366|Autosomal dominant deafness-15 is a form of progressive nonsyndromic sensorineural hearing loss with postlingual onset between the second and sixth decades of life (summary by Kim et al., 2013).|OMIM|N|
C1865370|Severe combined immunodeficiency (SCID) due to DCLRE1C deficiency is a type of SCID (see this term) characterized by severe and recurrent infections, diarrhea, failure to thrive, and cell sensitivity to ionizing radiation.|ORDO|N|
C1865371|A type of severe combined immunodeficiency disease characterised by severe and recurrent infections, diarrhoea, failure to thrive, and cell sensitivity to ionising radiation. Prevalence is unknown. Results from null mutations in the DCLRE1C gene (10p13) that lead to a defect in the V(D)J recombination and thus to an early arrest of both B and T cell maturation. Transmission is autosomal recessive.|SNOMEDCT_US|N|
C1865384|Monomelic amyotrophy, also known as Hirayama disease, is characterized by insidious onset of weakness and wasting of the muscles of the hand and forearm. It is usually unilateral, but can be bilateral. It occurs most commonly as a sporadic condition, is most common in young men, and follows a relatively benign course after a few years of progression  (Nalini et al., 2004; Misra et al., 2005).|OMIM|N|
C1865409|Juvenile amyotrophic lateral sclerosis-4 (ALS4) is an autosomal dominant disorder characterized by distal muscle weakness and atrophy, normal sensation, and pyramidal signs, with onset of symptoms before the age of 25 years, a slow rate of progression, and a normal life span (summary by Chen et al., 2004).
For a phenotypic description and a discussion of genetic heterogeneity of amyotrophic lateral sclerosis, see ALS1 (105400).|OMIM|N|
C1865412|Any structural anomaly of the lower motor neuron.|HPO|N|
C1865416|An abnormally pale appearance of the dorsal portion of the gray substance of the spinal cord. This finding can be observed by histological examination.|HPO|N|
C1865433|Congenital bilateral absence of the vas deferens (CBAVD) is a condition leading to male infertility.|ORDO|N|
C1865570|A dislocation of the head of the radius from its socket in the elbow joint in an proximal direction.|HPO|N|
C1865571|Absence or underdevelopment of the ulna.|HPO|N|
C1865572|Proximal mislocalization of the thumb.|HPO|N|
C1865581|Generally, Parkinson's disease that begins after age 50 is called late-onset disease. The condition is described as early-onset disease if signs and symptoms begin before age 50. Early-onset cases that begin before age 20 are sometimes referred to as juvenile-onset Parkinson's disease.\n\nParkinson's disease can also affect emotions and thinking ability (cognition). Some affected individuals develop psychiatric conditions such as depression and visual hallucinations. People with Parkinson's disease also have an increased risk of developing dementia, which is a decline in intellectual functions including judgment and memory.\n\nOften the first symptom of Parkinson's disease is trembling or shaking (tremor) of a limb, especially when the body is at rest. Typically, the tremor begins on one side of the body, usually in one hand. Tremors can also affect the arms, legs, feet, and face. Other characteristic symptoms of Parkinson's disease include rigidity or stiffness of the limbs and torso, slow movement (bradykinesia) or an inability to move (akinesia), and impaired balance and coordination (postural instability). These symptoms worsen slowly over time.\n\nParkinson's disease is a progressive disorder of the nervous system. The disorder affects several regions of the brain, especially an area called the substantia nigra that controls balance and movement.|MedlinePlus Genetics|N|
C1865596|Desmosterolosis is a rare autosomal recessive disorder characterized by multiple congenital anomalies and elevated levels of the cholesterol precursor desmosterol in plasma, tissue, and cultured cells (summary by Waterham et al., 2001).|OMIM|N|
C1865598|Increased width of the alveolar ridges.|HPO|N|
C1865614|Juvenile hemochromatosis is characterized by onset of severe iron overload occurring typically in the first to third decades of life. Males and females are equally affected. Prominent clinical features include hypogonadotropic hypogonadism, cardiomyopathy, glucose intolerance and diabetes, arthropathy, and liver fibrosis or cirrhosis. Hepatocellular cancer has been reported occasionally. The main cause of death is cardiac disease. If juvenile hemochromatosis is detected early enough and if blood is removed regularly through the process of phlebotomy to achieve iron depletion, morbidity and mortality are greatly reduced.|GeneReviews|N|
C1865616|Juvenile hemochromatosis is characterized by onset of severe iron overload occurring typically in the first to third decades of life. Males and females are equally affected. Prominent clinical features include hypogonadotropic hypogonadism, cardiomyopathy, glucose intolerance and diabetes, arthropathy, and liver fibrosis or cirrhosis. Hepatocellular cancer has been reported occasionally. The main cause of death is cardiac disease. If juvenile hemochromatosis is detected early enough and if blood is removed regularly through the process of phlebotomy to achieve iron depletion, morbidity and mortality are greatly reduced.|GeneReviews|N|
C1865639|Gracile bone dysplasia (GCLEB) is a perinatally lethal condition characterized by gracile bones with thin diaphyses, premature closure of basal cranial sutures, and microphthalmia (summary by Unger et al., 2013).|OMIM|N|
C1865643|The signs and symptoms of PFIC2 are typically related to liver disease only; however, these signs and symptoms tend to be more severe than those experienced by people with PFIC1. People with PFIC2 often develop liver failure within the first few years of life. Additionally, affected individuals are at increased risk of developing a type of liver cancer called hepatocellular carcinoma.\n\nIn addition to signs and symptoms related to liver disease, people with PFIC1 may have short stature, deafness, diarrhea, inflammation of the pancreas (pancreatitis), and low levels of fat-soluble vitamins (vitamins A, D, E, and K) in the blood. Affected individuals typically develop liver failure before adulthood.\n\nThere are three known types of PFIC: PFIC1, PFIC2, and PFIC3. The types are also sometimes described as shortages of particular proteins needed for normal liver function. Each type has a different genetic cause.\n\nMost people with PFIC3 have signs and symptoms related to liver disease only.  Signs and symptoms of PFIC3 usually do not appear until later in infancy or early childhood; rarely, people are diagnosed in early adulthood.  Liver failure can occur in childhood or adulthood in people with PFIC3.\n\nSigns and symptoms of PFIC typically begin in infancy and are related to bile buildup and liver disease. Specifically, affected individuals experience severe itching, yellowing of the skin and whites of the eyes (jaundice), failure to gain weight and grow at the expected rate (failure to thrive), high blood pressure in the vein that supplies blood to the liver (portal hypertension), and an enlarged liver and spleen (hepatosplenomegaly).\n\nProgressive familial intrahepatic cholestasis (PFIC) is a disorder that causes progressive liver disease, which typically leads to liver failure. In people with PFIC, liver cells are less able to secrete a digestive fluid called bile. The buildup of bile in liver cells causes liver disease in affected individuals.|MedlinePlus Genetics|N|
C1865644|Pierpont syndrome (PRPTS) is a multiple congenital anomaly syndrome associated with learning disability. Key features include distinctive facial characteristics, especially when smiling, plantar fat pads, and other limb anomalies (summary by Burkitt Wright et al., 2011).|OMIM|N|
C1865695|Axial spondylometaphyseal dysplasia (SMDAX) is characterized by postnatal growth failure, including rhizomelic short stature in early childhood that evolves into short trunk in late childhood, and thoracic hypoplasia that may cause mild to moderate respiratory problems in the neonatal period and later susceptibility to airway infection. Impaired visual acuity comes to medical attention in early life and vision rapidly deteriorates. Retinal changes are diagnosed as retinitis pigmentosa or pigmentary retinal degeneration on funduscopic examination and as cone-rod dystrophy on electroretinogram. Radiologic hallmarks include short ribs with flared and cupped anterior ends, mild spondylar dysplasia, lacy iliac crests, and metaphyseal irregularities essentially confined to the proximal femora (summary by Suzuki et al., 2011).|OMIM|N|
C1865702|Chronic loss of joint motion in the 5th finger due to structural changes in non-bony tissue. The term camptodactyly of the 5th finger is used if the distal and/or proximal interphalangeal joints are affected.|HPO|N|
C1865794|RHYNS syndrome is characterized by gaze palsy, retinitis pigmentosa, sensorineural hearing loss, hypopituitarism, nephronophthisis, and mild skeletal dysplasia (Di Rocco et al., 1997).|OMIM|N|
C1865818|Idiopathic torsion dystonia (ITD) is a clinically and genetically heterogeneous group of movement disorders characterized by sustained dystonic muscle contractions causing involuntary twisting movements and/or postures, where causes such as cerebral lesions (especially of the basal ganglia), drugs, or other neurologic disorders have not been found. Adult-onset torsion dystonia usually remains focal and is localized in the upper part of the body (summary by Leube et al., 1996).|OMIM|N|
C1865832|Disorder with manifestations of moderate-to-severe metaphyseal changes, mild epiphyseal involvement, rhizomelic shortening of the lower limbs with bowing of the femora and/or tibiae, coxa vara, genu varum and pear-shaped vertebrae in childhood. The syndrome has been described in a large Missouri (US) kindred with 14 affected members in 4 generations. Though some spontaneous improvement of the skeletal defects may occur in adolescence, the affected individuals remained shorter than their age-matched unaffected siblings. Predisposition deformities to osteoarthritis have been noted. This condition is caused by mutation in the MMP13 gene (locus 11q22.3) and transmitted in an autosomal dominant manner.|SNOMEDCT_US|N|
C1865841|Widening of the ilium ala, that is of the wing of the ilium, combined with external rotation, leading to a flared appearance of the iliac wing.|HPO|N|
C1865847|Bending of the diaphysis (shaft) of the ulna.|HPO|N|
C1865856|Hereditary thermosensitive neuropathy is a rare, demyelinating, hereditary motor and sensory neuropathy characterized by reversible episodes of ascending muscle weakness, paresthesias and areflexia triggered by a febrile episode, with or without pressure palsy.|ORDO|N|
C1865864|Autosomal recessive juvenile amyotrophic lateral sclerosis-5 (ALS5) is a neurodegenerative disorder characterized by onset of upper and lower motor neuron signs before age 25. Affected individuals have progressive spasticity of limb and facial muscles associated with distal amyotrophy. The disorder is slowly progressive, with cases of prolonged survival of more than 3 decades (summary by Orlacchio et al., 2010).
For a phenotypic description and a discussion of genetic heterogeneity of amyotrophic lateral sclerosis (ALS), see ALS1 (105400).|OMIM|N|
C1865865|Usher syndrome type I (USH1) is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa (RP). Unless fitted with a cochlear implant, individuals do not typically develop speech. RP, a progressive, bilateral, symmetric degeneration of rod and cone functions of the retina, develops in adolescence, resulting in progressively constricted visual fields and impaired visual acuity.|GeneReviews|N|
C1865866|A type of hearing impairment caused by an abnormal functionality of the cochlear nerve with congenital onset.|HPO|N|
C1865869|Progressive cone dystrophy usually presents in childhood or early adult life, with many patients developing rod photoreceptor involvement in later life, thereby leading to considerable overlap between progressive cone dystrophy and cone-rod dystrophy. Both progressive cone dystrophy and cone-rod dystrophy have been associated with mutation in the GUCA1A gene (Michaelides et al., 2006).
Intrafamilial variability in GUCA1A-associated macular disease ranges from mild photoreceptor degeneration to central areolar choroidal dystrophy (CACD), a form of retinal degeneration that primarily involves the macula and is characterized by a well-defined atrophic region of retinal pigment epithelium and choriocapillaris in the latest stage (Chen et al., 2017).|OMIM|N|
C1865870|Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the USH1C gene.|MONDO|N|
C1865871|Capillary hemangiomas are benign, highly proliferative lesions involving aberrant localized growth of capillary endothelium. They are the most common tumor of infancy, occurring in up to 10% of all births (Mulliken and Young, 1988). Hemangiomas tend to appear shortly after birth and show rapid neonatal growth for up to 12 months characterized by endothelial hypercellularity and increased numbers of mast cells. This phase is followed by slow involution at a rate of about 10% per year and replacement by fibrofatty stroma. Hemangiomas are classified as distinct from vascular malformations (see, e.g., CMC1, 163000; 108010; and CCM, 116860), in that the latter are present from birth, tend to grow with the individual, do not regress, and show normal rates of endothelial cell turnover (Spring and Bentz, 2005; Legiehn and Heran, 2006). Legiehn and Heran (2006) noted that the term 'hemangioma' in adults is considered inaccurate and should be discarded.
Most hemangiomas occur sporadically, but some families with autosomal dominant inheritance have been reported (Walter et al., 1999).|OMIM|N|
C1865872|The nephronophthisis (NPH) phenotype is characterized by reduced renal concentrating ability, chronic tubulointerstitial nephritis, cystic renal disease, and progression to end-stage renal disease (ESRD) before age 30 years. Three age-based clinical subtypes are recognized: infantile, juvenile, and adolescent/adult. Infantile NPH can present in utero with oligohydramnios sequence (limb contractures, pulmonary hypoplasia, and facial dysmorphisms) or postnatally with renal manifestations that progress to ESRD before age 3 years. Juvenile NPH, the most prevalent subtype, typically presents with polydipsia and polyuria, growth retardation, chronic iron-resistant anemia, or other findings related to chronic kidney disease (CKD). Hypertension is typically absent due to salt wasting. ESRD develops at a median age of 13 years. Ultrasound findings are increased echogenicity, reduced corticomedullary differentiation, and renal cysts (in 50% of affected individuals). Histologic findings include tubulointerstitial fibrosis, thickened and disrupted tubular basement membrane, sporadic corticomedullary cysts, and normal or reduced kidney size. Adolescent/adult NPH is clinically similar to juvenile NPH, but ESRD develops at a median age of 19 years. Within a subtype, inter- and intrafamilial variability in rate of progression to ESRD is considerable. Approximately 80%-90% of individuals with the NPH phenotype have no extrarenal features (i.e., they have isolated NPH); ~10%-20% have extrarenal manifestations that constitute a recognizable syndrome (e.g., Joubert syndrome, Bardet-Biedl syndrome, Jeune syndrome and related skeletal disorders, Meckel-Gruber syndrome, Senior-Løken syndrome, Leber congenital amaurosis, COACH syndrome, and oculomotor apraxia, Cogan type).|GeneReviews|N|
C1865877|Cysts of microscopic size confined to the cortex of the kidney.|HPO|N|
C1865881|Arrhythmogenic right ventricular cardiomyopathy (ARVC) – previously referred to as arrhythmogenic right ventricular dysplasia (ARVD) – is characterized by progressive fibrofatty replacement of the myocardium that predisposes to ventricular tachycardia and sudden death in young individuals and athletes. It primarily affects the right ventricle, and it may also involve the left ventricle. The presentation of disease is highly variable even within families, and some affected individuals may not meet established clinical criteria. The mean age at diagnosis is 31 years (±13; range: 4-64 years).|GeneReviews|N|
C1865882|Arrhythmogenic right ventricular cardiomyopathy (ARVC) – previously referred to as arrhythmogenic right ventricular dysplasia (ARVD) – is characterized by progressive fibrofatty replacement of the myocardium that predisposes to ventricular tachycardia and sudden death in young individuals and athletes. It primarily affects the right ventricle, and it may also involve the left ventricle. The presentation of disease is highly variable even within families, and some affected individuals may not meet established clinical criteria. The mean age at diagnosis is 31 years (±13; range: 4-64 years).|GeneReviews|N|
C1865885|Usher syndrome type I (USH1) is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa (RP). Unless fitted with a cochlear implant, individuals do not typically develop speech. RP, a progressive, bilateral, symmetric degeneration of rod and cone functions of the retina, develops in adolescence, resulting in progressively constricted visual fields and impaired visual acuity.|GeneReviews|N|
C1865903|Long-tract signs refer to symptoms that are attributable to the involvement of the long fiber tracts in the spinal cord, which connect the spinal cord to the brain and mediate spinal and motor functions.|HPO|N|
C1865915|Congenital fibrosis of extraocular muscles-2 (CFEOM2) is an autosomal recessive disorder in which affected individuals are born with bilateral ptosis and restrictive ophthalmoplegia with the globes fixed in extreme abduction (exotropia) (Wang et al., 1998, Nakano et al., 2001).
For a general phenotypic description and a discussion of genetic heterogeneity of various forms of CFEOM, see CFEOM1 (135700).|OMIM|N|
C1865918|Fibrosis of the external ocular muscles such that the eyes of affected individuals are partially or completely fixed in a strabismic position. Residual eye movements are significantly limited.|HPO|N|
C1865926|PRRT2-associated paroxysmal movement disorders (PRRT2-PxMD) include paroxysmal kinesigenic dyskinesia (PKD), benign familial infantile epilepsy (BFIE), paroxysmal kinesigenic dyskinesia with infantile convulsions (PKD/IC), and hemiplegic migraine (HM). In addition, PRRT2 pathogenic variants have been identified in other childhood-onset movement disorders and different types of seizures, suggesting that the understanding of the spectrum of PRRT2-PxMD is still evolving. The paroxysmal attacks in PKD are characterized by dystonia, choreoathetosis, and less commonly ballismus. The seizures of BFIE are usually focal with or without generalization. Thirty percent of PRRT2-associated PKD is associated with BFIE and is referred to as PKD/IC.|GeneReviews|N|
C1865951|Pure hair and nail ectodermal dysplasia is characterised by the association of onychodystrophy and severe hypotrichosis, which is mainly limited to the scalp but may also affect the eyelashes and eyebrows. Less than 20 cases have been reported so far. The mode of transmission is autosomal dominant.|ORDO|N|
C1865974|Familial hypomagnesemia with secondary hypocalcemia (HOMG1) is a rare autosomal recessive disorder characterized by very low serum magnesium levels. Hypocalcemia is a secondary consequence of parathyroid failure and parathyroid hormone resistance as a result of severe magnesium deficiency. The disease typically manifests during the first months of life with generalized convulsions or signs of increased neuromuscular excitability, such as muscle spasms or tetany. Untreated, the disease may be fatal or lead to severe neurologic damage. Treatment includes immediate administration of magnesium, usually intravenously, followed by life-long high-dose oral magnesium (review by Knoers, 2009).
Genetic Heterogeneity of Hypomagnesemia
A form of hypomagnesemia due to kidney defects and high urinary magnesium excretion associated with hypocalciuria (HOMG2; 154020) is caused by mutation in the FXYD2 gene (601814). Renal hypomagnesemia-3 (HOMG3; 248250), associated with hypercalciuria and nephrocalcinosis, is caused by mutation in the CLDN16 gene (603959). Renal hypomagnesemia-4 (HOMG4; 611718), which is normocalciuric, is caused by mutation in the EGF gene (131530). Renal hypomagnesemia-5 (HOMG5; 248190), associated with hypercalciuria, nephrocalcinosis, and severe ocular involvement, is caused by mutation in the CLDN19 gene (610036). Renal hypomagnesemia-6 (HOMG6; 613882) is caused by mutation in the CNNM2 gene (607803). Renal hypomagnesemia-7 with or without dilated cardiomyopathy (HOMG7; 620152) is caused by mutation in the RRAGD gene (608268).
Patients with Gitelman syndrome (263800) and Bartter syndrome (see 241200) also show hypomagnesemia, and steatorrhea and severe chronic diarrhea states, such as Crohn disease (see 226600) and Whipple disease, that can result in severe hypomagnesemia.|OMIM|N|
C1865981|Friedreich ataxia (FRDA) is an autosomal recessive neurodegenerative disorder characterized by progressive gait and limb ataxia with associated limb muscle weakness, absent lower limb reflexes, extensor plantar responses, dysarthria, and decreased vibratory sense and proprioception. Onset is usually in the first or second decade, before the end of puberty (summary by Delatycki et al., 2000).
For a general phenotypic description of Friedreich ataxia (FRDA), see FRDA1 (229300), which is caused by mutation in the FXN gene (606829) on chromosome 9q13.|OMIM|N|
C1865992|Underdevelopment (hypoplasia) of the big toe.|HPO|N|
C1865998|This syndrome has characteristics of neonatal teeth, trichodystrophy and malformations of the hands and feet. To date, it has been reported in 21 patients and is transmitted as an autosomal dominant trait.|SNOMEDCT_US|N|
C1866008|A mild form of limb-girdle muscular dystrophy with characteristics of muscle weakness in the four limbs, mild scapular winging, severe atrophy of the quadriceps and anterior tibialis muscles, calf hypertrophy and lack of respiratory and cardiac involvement.|SNOMEDCT_US|N|
C1866010|A lack of strength of the proximal muscles of the legs.|HPO|N|
C1866012|A lack of strength of the proximal muscles of the arms.|HPO|N|
C1866013|Muscular atrophy affecting proximally located muscles of the arms.|HPO|N|
C1866021|The presence of an abnormally increased amount of connective tissue.|HPO|N|
C1866029|An inherited epidermal disorder with characteristics of palmoplantar keratoderma, linear hyperkeratotic papules on the flexural side of large joints (cord-like distribution around wrists, in antecubital and popliteal folds), hyperkeratotic plaques (on neck, axillae, elbows, wrists, and knees), mild ichthyosiform scaling, and sclerotic constrictions around fingers that present flexural deformities. The disease is caused by homozygous mutation in the POMP gene.|SNOMEDCT_US|N|
C1866039|An extremely rare form of hereditary episodic ataxia with characteristics of recurrent episodes of vertigo and ataxia lasting several hours.|SNOMEDCT_US|N|
C1866040|Type 1 diabetes is a disorder characterized by abnormally high levels of blood glucose, also called blood sugar. In this form of diabetes, specialized cells in the pancreas called beta cells stop producing insulin. Insulin controls how much glucose (a type of sugar) is passed from the blood into cells for conversion to energy. Lack of insulin results in the inability to use glucose for energy or to control the amount of glucose in the blood.\n\nType 1 diabetes can occur at any age, from early childhood to late adulthood. The first signs and symptoms of the disorder are caused by high blood glucose and may include frequent urination (polyuria), excessive thirst (polydipsia), fatigue, blurred vision, tingling or loss of feeling in the hands and feet, and weight loss. These symptoms may recur during the course of the disorder if blood glucose is not well controlled by insulin replacement therapy. Improper control can also cause blood glucose levels to become too low (hypoglycemia). This may occur when the body's needs change, such as during exercise or if eating is delayed. Hypoglycemia can cause headache, dizziness, hunger, shaking, sweating, weakness, and agitation.\n\nUncontrolled type 1 diabetes can lead to a life-threatening complication called diabetic ketoacidosis. Without insulin, cells cannot take in glucose. A lack of glucose in cells prompts the liver to try to compensate by releasing more glucose into the blood, and blood glucose can become extremely high. The cells, unable to use the glucose in the blood for energy, respond by using fats instead. Breaking down fats to obtain energy produces waste products called ketones, which can build up to toxic levels in people with type 1 diabetes, resulting in diabetic ketoacidosis. Affected individuals may begin breathing rapidly; develop a fruity odor in the breath; and experience nausea, vomiting, facial flushing, stomach pain, and dryness of the mouth (xerostomia). In severe cases, diabetic ketoacidosis can lead to coma and death.\n\nOver many years, the chronic high blood glucose associated with diabetes may cause damage to blood vessels and nerves, leading to complications affecting many organs and tissues. The retina, which is the light-sensitive tissue at the back of the eye, can be damaged (diabetic retinopathy), leading to vision loss and eventual blindness. Kidney damage (diabetic nephropathy) may also occur and can lead to kidney failure and end-stage renal disease (ESRD). Pain, tingling, and loss of normal sensation (diabetic neuropathy) often occur, especially in the feet. Impaired circulation and absence of the normal sensations that prompt reaction to injury can result in permanent damage to the feet; in severe cases, the damage can lead to amputation. People with type 1 diabetes are also at increased risk of heart attacks, strokes, and problems with urinary and sexual function.|MedlinePlus Genetics|N|
C1866041|An inherited susceptibility or predisposition to developing type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 18q21.|MONDO|N|
C1866070|Any orofacial cleft in which the cause of the disease is a mutation in the SUMO1 gene.|MONDO|N|
C1866075|Glomerulopathy with fibronectin deposits is a genetically heterogeneous autosomal dominant disorder characterized clinically by proteinuria, microscopic hematuria, and hypertension that leads to end-stage renal failure in the second to fifth decade of life. Pathologic examination shows enlarged glomeruli with mesangial and subendothelial fibrillary deposits that show strong immunoreactivity to fibronectin (Castelletti et al., 2008).
For a discussion of genetic heterogeneity of GFND, see 137950.|OMIM|N|
C1866076|Malignant hyperthermia susceptibility (MHS) is a pharmacogenetic disorder of skeletal muscle calcium regulation associated with uncontrolled skeletal muscle hypermetabolism. Manifestations of malignant hyperthermia (MH) are precipitated by certain volatile anesthetics (i.e., halothane, isoflurane, sevoflurane, desflurane, enflurane), either alone or in conjunction with a depolarizing muscle relaxant (specifically, succinylcholine). The triggering substances cause uncontrolled release of calcium from the sarcoplasmic reticulum and may promote entry of extracellular calcium into the myoplasm, causing contracture of skeletal muscles, glycogenolysis, and increased cellular metabolism, resulting in production of heat and excess lactate. Affected individuals experience acidosis, hypercapnia, tachycardia, hyperthermia, muscle rigidity, compartment syndrome, rhabdomyolysis with subsequent increase in serum creatine kinase (CK) concentration, hyperkalemia with a risk for cardiac arrhythmia or even cardiac arrest, and myoglobinuria with a risk for renal failure. In nearly all cases, the first manifestations of MH (tachycardia and tachypnea) occur in the operating room; however, MH may also occur in the early postoperative period. There is mounting evidence that some individuals with MHS will also develop MH with exercise and/or on exposure to hot environments. Without proper and prompt treatment with dantrolene sodium, mortality is extremely high.|GeneReviews|N|
C1866077|Malignant hyperthermia susceptibility (MHS) is a pharmacogenetic disorder of skeletal muscle calcium regulation associated with uncontrolled skeletal muscle hypermetabolism. Manifestations of malignant hyperthermia (MH) are precipitated by certain volatile anesthetics (i.e., halothane, isoflurane, sevoflurane, desflurane, enflurane), either alone or in conjunction with a depolarizing muscle relaxant (specifically, succinylcholine). The triggering substances cause uncontrolled release of calcium from the sarcoplasmic reticulum and may promote entry of extracellular calcium into the myoplasm, causing contracture of skeletal muscles, glycogenolysis, and increased cellular metabolism, resulting in production of heat and excess lactate. Affected individuals experience acidosis, hypercapnia, tachycardia, hyperthermia, muscle rigidity, compartment syndrome, rhabdomyolysis with subsequent increase in serum creatine kinase (CK) concentration, hyperkalemia with a risk for cardiac arrhythmia or even cardiac arrest, and myoglobinuria with a risk for renal failure. In nearly all cases, the first manifestations of MH (tachycardia and tachypnea) occur in the operating room; however, MH may also occur in the early postoperative period. There is mounting evidence that some individuals with MHS will also develop MH with exercise and/or on exposure to hot environments. Without proper and prompt treatment with dantrolene sodium, mortality is extremely high.|GeneReviews|N|
C1866078|Mutations in the GJA3 gene have been found to cause multiple types of cataract, which have been described as zonular pulverulent, posterior polar, nuclear coralliform, embryonal nuclear, and Coppock-like.
The preferred title/symbol for this entry was formerly 'Cataract, Zonular Pulverulent 3; CZP3.'|OMIM|N|
C1866079|Juvenile primary osteoporosis is a skeletal disorder characterized by thinning of the bones (osteoporosis) that begins in childhood. Osteoporosis is caused by a shortage of calcium and other minerals in bones (decreased bone mineral density), which makes the bones brittle and prone to fracture. Affected individuals often have multiple fractures in the long bones of the arms and legs, especially in the regions where new bone forms (metaphyses). They also have fractures in the bones that form the spine (vertebrae), which can cause collapse of the affected vertebrae (compressed vertebrae). Multiple fractures can cause bone pain and lead to movement problems.|MedlinePlus Genetics|N|
C1866094|This form of autosomal recessive deafness is sensorineural and nonsyndromic, and shows prelingual onset (summary by Charizopoulou et al., 2011).|OMIM|N|
C1866095|Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the COL11A2 gene.|MONDO|N|
C1866119|A rare, primary immunodeficiency with an autosomal dominant pattern of inheritance but variable penetrance. It is the most common subtype of autoimmune lymphoproliferative syndrome (ALPS). It is usually caused by a germline mutation in the Fas gene that leads to defective Fas-induced apoptosis but in a minority of cases, it also may be attributed to a somatic Fas mutation. Disruption of Fas-induced apoptosis impairs lymphocyte homeostasis and immune tolerance. Characteristic laboratory findings include an increase in circulating, double-negative (CD4-/CD8-) T cells in the setting of immune-mediated anemia, thrombocytopenia and neutropenia. Clinical signs present in childhood include fatigue, pallor, bruising, hepatosplenomegaly and chronic, non-malignant, non-infectious lymphadenopathy. The clinical course is influenced by a strong association with other autoimmune disorders and an increased risk for developing Hodgkin and non-Hodgkin lymphoma.|NCI|N|
C1866120|A rare, primary immunodeficiency with an autosomal dominant pattern of inheritance but incomplete penetrance. It is caused by a mutation in the FASLG (Fas ligand) gene that leads to defective Fas-induced apoptosis. Disruption of Fas-induced apoptosis impairs lymphocyte homeostasis and immune tolerance. Characteristic laboratory findings include an increase in circulating, double-negative (CD4-/CD8-) T cells in the setting of immune-mediated anemia, thrombocytopenia and neutropenia. Clinical signs present in childhood include fatigue, pallor, bruising, hepatosplenomegaly and chronic, non-malignant, non-infectious lymphadenopathy. The clinical course is influenced by a strong association with other autoimmune disorders and an increased risk for developing Hodgkin and non-Hodgkin lymphoma.|NCI|N|
C1866127|Decreased or absent sensation in the distribution of the trigeminal nerve, which provides tactile, proprioceptive, and nociceptive sensation in the area of the face and mouth.|HPO|N|
C1866129|Any structural abnormality of the cerebellum.|HPO|N|
C1866130|Rhombencephalosynapsis is a rare brain malformation defined by midline fusion of the cerebellar hemispheres with partial or complete loss of the intervening vermis.|HPO|N|
C1866134|Enlargement of the anterior fontanelle with respect to age-dependent norms.|HPO|N|
C1866139|Autosomal dominant myopathy with rimmed ubiquitin-positive autophagic vacuolation (MRUPAV) is characterized by adult onset of slowly progressive skeletal muscle weakness variably affecting the distal or proximal lower limbs. Some patients may also have upper limb involvement or neck muscle weakness, but respiratory and bulbar involvement only rarely occurs. EMG studies show a myopathic process, and myotonia may also be observed. Skeletal muscle biopsy shows myopathic features, rimmed vacuoles, and abnormal subsarcolemmal protein aggregation with activation of the autophagy pathway (Ruggieri et al., 2020).|OMIM|N|
C1866141|Weakness of the muscles responsible for dorsiflexion of the foot, that is, of the movement of the toes towards the shin. The foot dorsiflexors include the tibialis anterior, the extensor hallucis longus, the extensor digitorum longus, and the peroneus tertius muscles.|HPO|N|
C1866168|A very rare form of acrofacial dysostosis, reported in four members of a family from the Sicilian village of Palagonia. The syndrome has characteristics of normal intelligence, shortness of stature, and mild acrofacial dysostosis (malar hypoplasia, micrognathia and webbing of digits with shortening of the fourth metacarpals) associated with oligodontia, normal or high arched palate, aplasia cutis verticis with pili torti, mild cutaneous syndactyly of digits 2-5, webbing of digits and shortening of the fourth metacarpals and unilateral cleft lip.|SNOMEDCT_US|N|
C1866174|Phosphoglycerate dehydrogenase deficiency (PHGDHD) is an autosomal recessive inborn error of L-serine biosynthesis that is characterized by congenital microcephaly, psychomotor retardation, and seizures (summary by Jaeken et al., 1996).|OMIM|N|
C1866176|Familial exudative vitreoretinopathy (FEVR) is an inherited disorder characterized by the incomplete development of the retinal vasculature. Its clinical appearance varies considerably, even within families, with severely affected patients often registered as blind during infancy, whereas mildly affected patients with few or no visual problems may have such a small area of avascularity in their peripheral retina that it is visible only by fluorescein angiography. It is believed that this peripheral avascularity is the primary anomaly in FEVR and results from defective retinal angiogenesis. The sight-threatening features of the FEVR phenotype are considered secondary to retinal avascularity and develop because of the resulting retinal ischemia; they include the development of hyperpermeable blood vessels, neovascularization, vitreoretinal traction, retinal folds, and retinal detachments (summary by Poulter et al., 2010).
For a discussion of genetic heterogeneity of familial exudative vitreoretinopathy, see EVR1 (133780).|OMIM|N|
C1866180|Nystagmus consisting of horizontal to-and-fro eye movements of equal velocity.|HPO|N|
C1866182|Penttinen syndrome (PENTT) is characterized by a prematurely aged appearance involving lipoatrophy and epidermal and dermal atrophy, as well as hypertrophic lesions that resemble scars, thin hair, proptosis, underdeveloped cheekbones, and marked acroosteolysis (Johnston et al., 2015).|OMIM|N|
C1866184|Spondylospinal thoracic dysostosis is an extremely rare skeletal disorder characterized bya short, curved spine and fusion of the spinous processes, short thorax with 'crab-like' configuration of the ribs, underdevelopment of the lungs (pulmonary hypoplasia), severe arthrogryposis and multiple pterygia (webbing of the skin across joints), and underdevelopment of the bones of the mouth.This condition is believed to be inherited in an autosomal recessive manner.It does notappear to be compatible with life.|MONDO|N|
C1866195|A morphological abnormality of the mouth in which the angle of the mouth is downturned. The oral commissures are positioned inferior to the midline labial fissure.|HPO|N|
C1866207|A congenital malformation of the aortic valve characterized by leaflet deformation.|HPO|N|
C1866231|Increased prominence or roundness of soft tissues between zygomata and mandible.|HPO|N|
C1866241|A foot for which the measured width is above the 95th centile for age; or, a foot that appears disproportionately wide for its length.|HPO|N|
C1866246|Decreased number of head hairs per unit area on the anterior region of the scalp.|HPO|N|
C1866256|Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome is a rare, genetic, syndromic microphthalmia disorder characterized by bilateral, usually asymmetrical, microphthalmia associated typically with a unilateral coloboma, truncal obesity, borderline to mild intellectual disability, hypogenitalism and, more variably, nystagmus, cataracts and developmental delay.|ORDO|N|
C1866284|Loss of previously present motor (i.e., movement) abilities.|HPO|N|
C1866293|The first signs and symptoms of cone-rod dystrophy, which often occur in childhood, are usually decreased sharpness of vision (visual acuity) and increased sensitivity to light (photophobia). These features are typically followed by impaired color vision (dyschromatopsia), blind spots (scotomas) in the center of the visual field, and partial side (peripheral) vision loss. Over time, affected individuals develop night blindness and a worsening of their peripheral vision, which can limit independent mobility. Decreasing visual acuity makes reading increasingly difficult and most affected individuals are legally blind by mid-adulthood. As the condition progresses, individuals may develop involuntary eye movements (nystagmus).\n\nThere are more than 30 types of cone-rod dystrophy, which are distinguished by their genetic cause and their pattern of inheritance: autosomal recessive, autosomal dominant, and X-linked. Additionally, cone-rod dystrophy can occur alone without any other signs and symptoms or it can occur as part of a syndrome that affects multiple parts of the body.\n\nCone-rod dystrophy is a group of related eye disorders that causes vision loss, which becomes more severe over time. These disorders affect the retina, which is the layer of light-sensitive tissue at the back of the eye. In people with cone-rod dystrophy, vision loss occurs as the light-sensing cells of the retina gradually deteriorate.|MedlinePlus Genetics|N|
C1866294|Bleeding problems are common in the vascular type of Ehlers-Danlos syndrome and are caused by unpredictable tearing (rupture) of blood vessels and organs. These complications can lead to easy bruising, internal bleeding, a hole in the wall of the intestine (intestinal perforation), or stroke. During pregnancy, women with vascular Ehlers-Danlos syndrome may experience rupture of the uterus. Additional forms of Ehlers-Danlos syndrome that involve rupture of the blood vessels include the kyphoscoliotic, classical, and classical-like types.\n\nOther types of Ehlers-Danlos syndrome have additional signs and symptoms. The cardiac-valvular type causes severe problems with the valves that control the movement of blood through the heart. People with the kyphoscoliotic type experience severe curvature of the spine that worsens over time and can interfere with breathing by restricting lung expansion. A type of Ehlers-Danlos syndrome called brittle cornea syndrome is characterized by thinness of the clear covering of the eye (the cornea) and other eye abnormalities. The spondylodysplastic type features short stature and skeletal abnormalities such as abnormally curved (bowed) limbs. Abnormalities of muscles, including hypotonia and permanently bent joints (contractures), are among the characteristic signs of the musculocontractural and myopathic forms of Ehlers-Danlos syndrome. The periodontal type causes abnormalities of the teeth and gums.\n\nMany people with the Ehlers-Danlos syndromes have soft, velvety skin that is highly stretchy (elastic) and fragile. Affected individuals tend to bruise easily, and some types of the condition also cause abnormal scarring. People with the classical form of Ehlers-Danlos syndrome experience wounds that split open with little bleeding and leave scars that widen over time to create characteristic "cigarette paper" scars. The dermatosparaxis type of the disorder is characterized by loose skin that sags and wrinkles, and extra (redundant) folds of skin may be present.\n\nAn unusually large range of joint movement (hypermobility) occurs in most forms of Ehlers-Danlos syndrome, and it is a hallmark feature of the hypermobile type. Infants and children with hypermobility often have weak muscle tone (hypotonia), which can delay the development of motor skills such as sitting, standing, and walking. The loose joints are unstable and prone to dislocation and chronic pain. In the arthrochalasia type of Ehlers-Danlos syndrome, infants have hypermobility and dislocations of both hips at birth.\n\nThe various forms of Ehlers-Danlos syndrome have been classified in several different ways. Originally, 11 forms of Ehlers-Danlos syndrome were named using Roman numerals to indicate the types (type I, type II, and so on). In 1997, researchers proposed a simpler classification (the Villefranche nomenclature) that reduced the number of types to six and gave them descriptive names based on their major features. In 2017, the classification was updated to include rare forms of Ehlers-Danlos syndrome that were identified more recently. The 2017 classification describes 13 types of Ehlers-Danlos syndrome.\n\nEhlers-Danlos syndrome is a group of disorders that affect connective tissues supporting the skin, bones, blood vessels, and many other organs and tissues. Defects in connective tissues cause the signs and symptoms of these conditions, which range from mildly loose joints to life-threatening complications.|MedlinePlus Genetics|N|
C1866373|Systemic lupus erythematosus (SLE) is a chronic disease that causes inflammation in connective tissues, such as cartilage and the lining of blood vessels, which provide strength and flexibility to structures throughout the body. The signs and symptoms of SLE vary among affected individuals, and can involve many organs and systems, including the skin, joints, kidneys, lungs, central nervous system, and blood-forming (hematopoietic) system. SLE is one of a large group of conditions called autoimmune disorders that occur when the immune system attacks the body's own tissues and organs.\n\nSLE may first appear as extreme tiredness (fatigue), a vague feeling of discomfort or illness (malaise), fever, loss of appetite, and weight loss. Most affected individuals also have joint pain, typically affecting the same joints on both sides of the body, and muscle pain and weakness. Skin problems are common in SLE. A characteristic feature is a flat red rash across the cheeks and bridge of the nose, called a "butterfly rash" because of its shape. The rash, which generally does not hurt or itch, often appears or becomes more pronounced when exposed to sunlight. Other skin problems that may occur in SLE include calcium deposits under the skin (calcinosis), damaged blood vessels (vasculitis) in the skin, and tiny red spots called petechiae. Petechiae are caused by a shortage of cells involved in clotting (platelets), which leads to bleeding under the skin. Affected individuals may also have hair loss (alopecia) and open sores (ulcerations) in the moist lining (mucosae) of the mouth, nose, or, less commonly, the genitals.\n\nAbout a third of people with SLE develop kidney disease (nephritis). Heart problems may also occur in SLE, including inflammation of the sac-like membrane around the heart (pericarditis) and abnormalities of the heart valves, which control blood flow in the heart. Heart disease caused by fatty buildup in the blood vessels (atherosclerosis), which is very common in the general population, is even more common in people with SLE. The inflammation characteristic of SLE can also damage the nervous system, and may result in abnormal sensation and weakness in the limbs (peripheral neuropathy); seizures; stroke; and difficulty processing, learning, and remembering information (cognitive impairment). Anxiety and depression are also common in SLE.\n\nPeople with SLE have episodes in which the condition gets worse (exacerbations) and other times when it gets better (remissions). Overall, SLE gradually gets worse over time, and damage to the major organs of the body can be life-threatening.|MedlinePlus Genetics|N|
C1866398|Proteus like syndrome describes patients who do not meet the diagnostic criteria for Proteus syndrome but who share a multitude of characteristic clinical features of the disease. The prevalence is unknown. The main clinical features include skeletal overgrowth, hamartomatous overgrowth of multiple tissues, cerebriform connective tissue nevi, vascular malformations and linear epidermal nevi. Mutations in the PTEN gene are found in 50% of Proteus-like syndrome cases, making them a part of the PTEN hamartoma syndrome group.|SNOMEDCT_US|N|
C1866422|Any retinitis pigmentosa in which the cause of the disease is a mutation in the ABCA4 gene.|MONDO|N|
C1866423|Quebec platelet disorder is an autosomal dominant bleeding disorder due to a gain-of-function defect in fibrinolysis. Although affected individuals do not exhibit systemic fibrinolysis, they show delayed onset bleeding after challenge, such as surgery. The hallmark of the disorder is markedly increased PLAU levels within platelets, which causes intraplatelet plasmin generation and secondary degradation of alpha-granule proteins. The disorder shows a favorable therapeutic response to fibrinolytic inhibitors (summary by Diamandis et al., 2009).|OMIM|N|
C1866425|An exceedingly rare genetic disorder with characteristics of cutaneous pigmentation anomalies, ocular disorders and hearing loss. The syndrome was described in 1990 in two patients from the same Yemenite family. A brother and sister were described as having cutaneous patchy hypo and hyperpigmentation on the trunk and extremities, gray hair, white brows and lashes. Ocular manifestations were microcornea, coloboma and abnormalities of the anterior chamber of the eye. Both patients had severe hearing loss and dental abnormalities. Intelligence was reported to be normal. Their parents were unaffected and possibly consanguineous. The cause of this syndrome has not been determined. The inheritance pattern appears to be autosomal recessive.|SNOMEDCT_US|N|
C1866426|T-cell immunodeficiency, congenital alopecia, and nail dystrophy (TIDAND) is an autosomal recessive primary immunodeficiency characterized by congenital thymic aplasia and severe T-cell immunodeficiency apparent at birth or soon thereafter. Affected individuals tend to have recurrent infections, oral candidiasis, and failure to thrive. Immunologic investigations show decreased numbers of T cells with poor proliferative response to phytohemagglutinin (PHA) and variable hypogammaglobulinemia. The phenotype is consistent with a T-/B+/NK+ form of severe combined immunodeficiency (SCID; see, e.g., 102700). Patients with FOXN1 mutations do not respond well to hematopoietic stem cell transplantation, as it is not curative; thymic transplantation offers a potential cure (Chou et al., 2014).|OMIM|N|
C1866428|Sebaceous gland hyperplasia presents as one or more elevated, soft, yellow papules with central umbilication on the face, particularly the forehead. Lesions may spread to the neck and upper part of the thorax. Sebaceous gland hyperplasia occurs frequently in older individuals, particularly in men past middle age (Nomland, 1930). A premature form has its appearance during puberty or just afterwards, male predominance, and excessive sebaceous secretion. Most cases are sporadic (summary by Boonchai and Leenutaphong, 1997).|OMIM|N|
C1866430|Human personality traits that can be reliably measured by rating scales show a considerable heritable component. One such instrument is the tridimensional personality questionnaire (TPQ), which was designed by Cloninger et al. (1993) to measure 4 distinct domains of temperament--novelty seeking, harm avoidance, reward dependence, and persistence--that are hypothesized to be based on distinct neurochemical and genetic substrates.
Risk-taking is a characteristic of behaviors that occur under conditions of uncertainty and involves a tradeoff between beneficial versus detrimental outcomes, perceived or real. Risk-taking may or may not involve conscious evaluation of the probability and magnitude of possible outcomes (Anokhin et al., 2009).
See also harm avoidance (607834) and pathologic gambling (606349), which may be related.|OMIM|N|
C1866431|Leptin (LEP; 164160) is a serum protein produced by adipocytes and is thought to play a role in the regulation of body fat. Leptin levels in humans are highly correlated with the individual's total adiposity (Maffei et al., 1995; Considine et al., 1996).|OMIM|N|
C1866487|Exaggerated bulkiness of the crease or fold of skin running from the lateral margin of the nose, where nasal base meets the skin of the face, to a point just lateral to the corner of the mouth (cheilion, or commissure).|HPO|N|
C1866495|Bartter syndrome refers to a group of disorders that are unified by autosomal recessive transmission of impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and hypercalciuria. Clinical disease results from defective renal reabsorption of sodium chloride in the thick ascending limb (TAL) of the Henle loop, where 30% of filtered salt is normally reabsorbed (Simon et al., 1997).
Patients with antenatal forms of Bartter syndrome typically present with premature birth associated with polyhydramnios and low birth weight and may develop life-threatening dehydration in the neonatal period. Patients with classic Bartter syndrome (see BARTS3, 607364) present later in life and may be sporadically asymptomatic or mildly symptomatic (summary by Simon et al., 1996 and Fremont and Chan, 2012).
For a discussion of genetic heterogeneity of Bartter syndrome, see 607364.|OMIM|N|
C1866496|Increased number and size of the juxtaglomerular cells.|HPO|N|
C1866498|An increased concentration of prostaglandin in the urine.|HPO|N|
C1866504|About half of all people with trichothiodystrophy have a photosensitive form of the disorder, which causes them to be extremely sensitive to ultraviolet (UV) rays from sunlight. They develop a severe sunburn after spending just a few minutes in the sun. However, for reasons that are unclear, they do not develop other sun-related problems such as excessive freckling of the skin or an increased risk of skin cancer. Many people with trichothiodystrophy report that they do not sweat.\n\nTrichothiodystrophy is also associated with recurrent infections, particularly respiratory infections, which can be life-threatening. People with trichothiodystrophy may have abnormal red blood cells, including red blood cells that are smaller than normal. They may also have elevated levels of a type of hemoglobin called A2, which is a protein found in red blood cells. Other features of trichothiodystrophy can include dry, scaly skin (ichthyosis); abnormalities of the fingernails and toenails; clouding of the lens in both eyes from birth (congenital cataracts); poor coordination; and skeletal abnormalities including degeneration of both hips at an early age.\n\nIntellectual disability and delayed development are common in people with trichothiodystrophy, although most affected individuals are highly social with an outgoing and engaging personality. Some people with trichothiodystrophy have brain abnormalities that can be seen with imaging tests. A common neurological feature of this disorder is impaired myelin production (dysmyelination). Myelin is a fatty substance that insulates nerve cells and promotes the rapid transmission of nerve impulses.\n\nMothers of children with trichothiodystrophy may experience problems during pregnancy including pregnancy-induced high blood pressure (preeclampsia) and a related condition called HELLP syndrome that can damage the liver. Babies with trichothiodystrophy are at increased risk of premature birth, low birth weight, and slow growth. Most children with trichothiodystrophy have short stature compared to others their age. \n\nThe signs and symptoms of trichothiodystrophy vary widely. Mild cases may involve only the hair. More severe cases also cause delayed development, significant intellectual disability, and recurrent infections; severely affected individuals may survive only into infancy or early childhood.\n\nIn people with trichothiodystrophy, tests show that the hair is lacking sulfur-containing proteins that normally gives hair its strength. A cross section of a cut hair shows alternating light and dark banding that has been described as a "tiger tail."\n\nTrichothiodystrophy, commonly called TTD, is a rare inherited condition that affects many parts of the body. The hallmark of this condition is hair that is sparse and easily broken. |MedlinePlus Genetics|N|
C1866507|Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome is a rare primary bone dysplasia disorder characterized by the association of dental anomalies (oligodontia with pointed incisors) and generalized platyspondyly with epiphyseal and metaphyseal involvement. Thin tapering fingers and accentuated palmar creases are additional features.|ORDO|N|
C1866510|The presence of discolored lateral incisors.|HPO|N|
C1866519|An inherited susceptibility or predisposition to developing type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 6q21.|MONDO|N|
C1866552|Hereditary paraganglioma-pheochromocytoma (PGL/PCC) syndromes are characterized by paragangliomas (tumors that arise from neuroendocrine tissues distributed along the paravertebral axis from the base of the skull to the pelvis) and pheochromocytomas (paragangliomas that are confined to the adrenal medulla). Sympathetic paragangliomas cause catecholamine excess; parasympathetic paragangliomas are most often nonsecretory. Extra-adrenal parasympathetic paragangliomas are located predominantly in the skull base and neck (referred to as head and neck PGL [HNPGL]) and sometimes in the upper mediastinum; approximately 95% of such tumors are nonsecretory. In contrast, sympathetic extra-adrenal paragangliomas are generally confined to the lower mediastinum, abdomen, and pelvis, and are typically secretory. Pheochromocytomas, which arise from the adrenal medulla, typically lead to catecholamine excess. Symptoms of PGL/PCC result from either mass effects or catecholamine hypersecretion (e.g., sustained or paroxysmal elevations in blood pressure, headache, episodic profuse sweating, forceful palpitations, pallor, and apprehension or anxiety). The risk for developing metastatic disease is greater for extra-adrenal sympathetic paragangliomas than for pheochromocytomas.|GeneReviews|N|
C1866558|Neural tube defects have a birth incidence of approximately 1 in 1,000 in American Caucasians and are the second most common type of birth defect after congenital heart defects. The most common NTDs are open spina bifida (myelomeningocele) and anencephaly (206500) (Detrait et al., 2005).
Women with elevated plasma homocysteine, low folate, or low vitamin B12 (cobalamin) are at increased risk of having a child with a neural tube defect (O'Leary et al., 2005). Motulsky (1996) cited evidence from the Centers for Disease Control ( Anonymous, 1992) that folic acid given before and during the first 4 weeks of pregnancy can prevent 50% or more of neural tube defects.
Botto et al. (1999) and Detrait et al. (2005) provided reviews of neural tube defects. De Marco et al. (2006) provided a detailed review of neurulation and the possible etiologies of neural tube defects.|OMIM|N|
C1866560|Anterior segment dysgeneses (ASGD or ASMD) are a heterogeneous group of developmental disorders affecting the anterior segment of the eye, including the cornea, iris, lens, trabecular meshwork, and Schlemm canal. The clinical features of ASGD include iris hypoplasia, an enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, an abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface (summary by Cheong et al., 2016).
Anterior segment dysgenesis is sometimes divided into subtypes including aniridia (see 106210), Axenfeld and Rieger anomalies, iridogoniodysgenesis, Peters anomaly, and posterior embryotoxon (Gould and John, 2002).
Some patients with ASGD3 have been reported with the following subtypes: iridogoniodysgenesis, Peters anomaly, Axenfeld anomaly, and Rieger anomaly.
Iridogoniodysgenesis, which is characterized by iris hypoplasia, goniodysgenesis, and juvenile glaucoma, is the result of aberrant migration or terminal induction of the neural crest cells involved in the formation of the anterior segment of the eye (summary by Mears et al., 1996).
Peters anomaly consists of a central corneal leukoma, absence of the posterior corneal stroma and Descemet membrane, and a variable degree of iris and lenticular attachments to the central aspect of the posterior cornea (Peters, 1906).
In Axenfeld anomaly, strands of iris tissue attach to the Schwalbe line; in Rieger anomaly, in addition to the attachment of iris tissue to the Schwalbe line, there is clinically evident iris stromal atrophy with hole or pseudo-hole formation and corectopia (summary by Smith and Traboulsi, 2012).|OMIM|N|
C1866636|SH3TC2-related hereditary motor and sensory neuropathy (SH3TC2-HMSN) is a demyelinating neuropathy characterized by severe spine deformities (scoliosis or kyphoscoliosis) and foot deformities (pes cavus, pes planus, or pes valgus) that typically present in the first decade of life or early adolescence. Other findings can include cranial nerve involvement (most commonly tongue involvement, facial weakness/paralysis, hearing impairment, dysarthria) and respiratory problems.|GeneReviews|N|
C1866637|A type of onion bulb formation prominently affecting the area of the basal lamina.|HPO|N|
C1866649|This syndrome has characteristics of holoprosencephaly, predominantly radial limb deficiency (absent thumbs, phocomelia), heart defects, kidney malformations and absence of gallbladder. It has been described in two families (with at least seven affected persons). Variable manifestations include vertebral anomalies, cleft lip/palate, microphthalmia, absent nose, dysplastic ears, hearing loss, colobomas of the iris and retina and/or bifid uvula. Inheritance is likely to be autosomal dominant with variable expressivity.|SNOMEDCT_US|N|
C1866650|The syndrome steatocystoma multiplex and natal teeth is characterized by generalized multiple steatocystomas and natal teeth.|ORDO|N|
C1866656|This syndrome has characteristics of congenital conductive deafness due to stapes ankylosis, broad thumbs and first toes and hyperopia. So far, it has been described in multiple members of six families. Other skeletal malformations were also reported including short distal phalanges and syndactyly, but symphalangism is usually absent. Transmission is autosomal dominant and the syndrome is caused by mutations in the NOG gene (17q22).|SNOMEDCT_US|N|
C1866657|A form of stapes ankylosis with congenital onset.|HPO|N|
C1866675|Presence of abnormal convexity of the upper and lower end plates of the vertebrae, i.e., an exaggerated bulging out of the upper and lower vertebral end plates.|HPO|N|
C1866687|Fracture or fragmentation at the lateral portion of the metaphysis of a long bone. The radiographic appearance is that of a small corner of metaphysis separated from the metaphyseal edge by thin linear radiolucency. This feature can be observed in child abuse but fragmented appearance of the metaphysis or facture-like lesions can also be detected in the setting of certain skeletal dysplasias.|HPO|N|
C1866688|Spondylometaphyseal dysplasia, Schmidt type has characteristics of short stature, myopia, small pelvis, progressive kyphoscoliosis, wrist deformity, severe genu valgum, short long bones, and severe metaphyseal dysplasia with moderate spinal changes and minimal changes in the hands and feet. This condition has been reported in five members of an Algerian family and one Polish boy. Autosomal dominant inheritance has been suggested, but the causative gene has not yet been identified.|SNOMEDCT_US|N|
C1866689|The sacroiliac joint in the bony pelvis connects the sacrum and the ilium of the pelvis, which are joined by strong ligaments. The notch is located directly superior to the joint. This term refers to a reduction in the height of the notch.|HPO|N|
C1866710|Delayed maturation and calcification of the pubic bone.|HPO|N|
C1866717|Autosomal domiant spondyloepiphyseal dysplasia tarda (autosomal dominant SEDT) is an inherited condition that affects bone growth. Signs and symptoms are generally physically apparent by puberty; however, abnormalities may be seen on X-ray at an earlier age. Affected people may have skeletal abnormalities, short stature (with a short neck and trunk, specifically), scoliosis, kyphosis, lumbar hyperlordosis (exaggerated curvature of the lower back), and early-onset progressive osteoarthritis of the hips and knees. Some cases of autosomal dominant SEDT may be caused by changes (mutations) in the COL2A1 gene. As the name suggests, the condition is inherited in an autosomal dominant manner. Treatment is based on the signs and symptoms present in each person and may include surgery and pain management strategies.|MONDO|N|
C1866719|Spondyloepiphyseal dysplasia (SED), MacDermot type is characterized by short stature, femoral epiphyseal dysplasia, mild vertebral changes and sensorineural deafness.|ORDO|N|
C1866728|A rare primary bone dysplasia disorder with characteristics of congenital hypotrichosis associated with rhizomelic short stature (more pronounced in upper limbs than lower limbs), limited hip abduction and mild genu varum. Flared and irregular metaphyses, delayed and irregular epiphyseal ossification and pear-shaped vertebral bodies are characteristic radiologic findings.|SNOMEDCT_US|N|
C1866730|Disproportionate shortening of the proximal segment of limbs (i.e. the femur and humerus).|HPO|N|
C1866731|Bulbous appearance of the anterior vertebral bodies, such that the vertebral bodies have the greatest vertical height anteriorly as well as bulbous anterior superior-inferior contours.|HPO|N|
C1866737|A lateral bending or abnormal curvature of the femur.|HPO|N|
C1866739|An exceedingly rare severe congenital genetic malformation disorder with characteristics of split hand/split foot, hydronephrosis, and spina bifida. Spinal and skeletal manifestations were thoracolumbar scoliosis, spina bifida (spina bifida occulta or spina bifida cystic), Bochdalek diaphragmatic hernia and radial defects. There have been no further descriptions in the literature since 1987.|SNOMEDCT_US|N|
C1866740|A rare syndrome with characteristics of split-hand and split-foot deformity and ocular abnormalities mainly a congenital nystagmus. Ten cases from four families have been reported in the literature. In some cases the hands are monodactylous. The affected patients have normal mental development. The condition seems to be autosomal dominant with a relatively high proportion of gonadal mosaicism.|SNOMEDCT_US|N|
C1866745|Splenogonadal fusion (SGF) is a rare congenital anomaly of abnormal fusion between the spleen and the gonad or the remnants of the mesonephros. In 'continuous SGF,' there is a cord-like connection between the 2 organs, whereas in 'discontinuous SGF,' there is fusion of accessory splenic tissue and the gonad without a distinct structural connection to the spleen itself. Forty-eight percent of individuals with continuous SGF have additional malformations, compared to 9% of those with discontinuous SGF (McPherson et al., 2003).|OMIM|N|
C1866753|An abnormality of ocular smooth pursuit characterized by an impairment of the ability to track horizontally moving objects.|HPO|N|
C1866774|Segmental spinal muscular atrophy is a form of anterior horn cell disease that affects predominantly the hand muscles (Kamholz et al., 1988). The disease is usually sporadic and nonprogressive.|OMIM|N|
C1866784|Distal hereditary motor neuronopathy (dHMN or HMN) is a heterogeneous group of neuromuscular disorders caused by anterior horn cell degeneration and characterized by progressive distal motor weakness and muscular atrophy of the peripheral nervous system without sensory impairment. Distal HMN is also referred to as spinal Charcot-Marie-Tooth disease (spinal CMT). Distal HMN is often referred to as a 'neuronopathy' instead of a 'neuropathy' based on the hypothesis that the primary pathologic process resides in the neuron cell body and not in the axons (Irobi et al., 2006).
Historically, Harding (1993) proposed a clinical classification of distal HMN into 7 phenotypic subtypes according to age at onset, mode of inheritance, and presence of additional features; see NOMENCLATURE.
Genetic Heterogeneity of Autosomal Dominant Distal Hereditary Motor Neuronopathy
Genetically distinct forms of autosomal dominant distal hereditary motor neuropathy include HMND1; HMND2 (158590), caused by mutation in the HSPB8 gene (608014); HMND3 (608634), caused by mutation in the HSPB1 gene (602195); HMND4 (613376), caused by mutation in the HSPB3 gene (604624); HMND5 (600794), caused by mutation in the GARS gene (600287); HMND6 (615575), caused by mutation in the FBXO38 gene (608533); HMND7 (158580), caused by mutation in the SLC5A7 gene (608761); HMND8 (600175), caused by mutation in the TRPV4 gene (605427); HMND9 (617721), caused by mutation in the WARS gene (191050); HMND10 (620080), caused by mutation in the EMILIN1 gene (130660); HMND11 (620528), caused by mutation in the SPTAN1 gene (182810); HMND12 (614751), caused by mutation in the REEP1 gene (609139); HMND13 (619112), caused by mutation in the BSCL2 gene (606158); and HMND14 (607641), caused by mutation in the DCTN1 gene (601143).
See also X-linked HMN (HMNX; 300489), caused by mutation in the ATP7A gene (300011) on chromosome Xq21.
Additional disorders with overlapping features include autosomal dominant ALS4 (602433), caused by mutation in the SETX gene (608465); and CMS7A (616040), caused by mutation in the SYT2 gene (600104).|OMIM|N|
C1866785|A rare form of myofibrillar myopathy characterised by predominantly proximal muscle weakness (that could be either non or slowly progressive), associated with spheroid body inclusions (composed of myofilament material within individual muscle fibres) in skeletal muscle biopsy. Presentation is varied and may range from asymptomatic to severe muscle weakness that manifests with absent Achilles reflexes, gait abnormality and/or other motor incapacitations.|SNOMEDCT_US|N|
C1866802|This syndrome is extremely rare and is characterized by delayed speech development, mild facial asymmetry, strabismus and transverse ear lobe creases.|ORDO|N|
C1866805|A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures on one side only.|HPO|N|
C1866806|A unilateral form of ptosis.|HPO|N|
C1866810|Hereditary elliptocytosis-3 (EL3) is a hemolytic disorder characterized by the presence of elliptical erythrocytes and resulting in some cases in hemolytic anemia (summary by Qualtieri et al., 1997).
For a general description and a discussion of genetic heterogeneity of hereditary elliptocytosis (HE), see EL1 (611804).|OMIM|N|
C1866850|Spastic paraplegia-precocious puberty syndrome is a complex form of hereditary spastic paraplegia characterized by the onset of progressive spastic paraplegia associated with precocious puberty (due to Leydig cell hyperplasia) in childhood (at the age of 2 years). Moderate intellectual disability was also reported. There have been no further descriptions in the literature since 1983.|ORDO|N|
C1866851|A complex form of hereditary spastic paraplegia characterized by spastic paraplegia, demyelinating peripheral sensorimotor neuropathy, poikiloderma (manifesting with loss of eyebrows and eyelashes in childhood in addition to delicate, smooth, and wasted skin) and distal amyotrophy (presenting after puberty). There have been no further descriptions in the literature since 1992.|ORDO|N|
C1866853|Spastic paraplegia-nephritis-deafness syndrome is a complex form of hereditary spastic paraplegia characterized by progressive, variable spastic paraplegia associated with bilateral sensorineural deafness, intellectual disability, and progressive nephropathy. There have been no further descriptions in the literature since 1988.|ORDO|N|
C1866855|Spastic paraplegia 4 (SPG4; also known as SPAST-HSP) is characterized by insidiously progressive bilateral lower-limb gait spasticity. More than 50% of affected individuals have some weakness in the legs and impaired vibration sense at the ankles. Sphincter disturbances are very common. Onset is insidious, mostly in young adulthood, although symptoms may start as early as age one year and as late as age 76 years. Intrafamilial variation is considerable.|GeneReviews|N|
C1866934|Diminution of tendon reflexes, which is an invariable sign of peripheral nerve disease.|HPO|N|
C1866958|A very rare inherited malformation syndrome with characteristics of omphalocele, scoliosis, mild dysmorphic features (downslanted palpebral fissures, s-shaped eyelids and thin upper lip), laryngeal and pharyngeal hypoplasia and learning disabilities.|SNOMEDCT_US|N|
C1866962|A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of dysmorphic facial features including high forehead, elongated and flattened midface, arched and sparse eyebrows, short palpebral fissures, telecanthus, long nose with hypoplastic nostrils, long philtrum, high and narrow palate and microstomia with downturned corners. Ears are characteristically malformed, large, low-set and posteriorly rotated and nasal speech is associated.|SNOMEDCT_US|N|
C1866983|Systemic sclerosis is a clinically heterogeneous connective tissue disorder characterized by immune activation, vascular damage, and fibrosis of the skin and major internal organs. Clinical and experimental data suggest that the disorder is multifactorial, involving both genetic and environmental factors (Fonseca et al., 2007).
Gabrielli et al. (2009) provided a detailed review of scleroderma, including clinical manifestations and pathophysiology.
See also Reynolds syndrome (613471), which shares some clinical features with scleroderma and CREST syndrome.|OMIM|N|
C1866984|Sclerocornea is a primary anomaly in which scleralization of a peripheral part of the cornea, or the entire corneal tissue, occurs. In the peripheral type, the affected area is vascularized with regular arcades of superficial scleral vessels. In total sclerocornea, the entire cornea is opaque and vascularized (summary by Elliott et al., 1985).|OMIM|N|
C1866985|This syndrome has characteristics of severe intellectual deficit, patella luxations, acromicria, hypogonadism, facial dysmorphism (including midface hypoplasia and premature frontotemporal balding). It has been described in three unrelated males.|SNOMEDCT_US|N|
C1866993|Schistosomiasis is an infectious disease caused by parasitic trematodes of the genus <i>Schistosoma</i> that colonize human blood vessels and release eggs that can cause granulomatous reactions leading to acute (swimmer's itch or acute schistosomiasis syndrome) or chronic disease. Depending on where the eggs lodge, manifestations of chronic schistosomiasis can include diarrhea, abdominal pain, loss of appetite, anemia (intestines), hepatosplenism, periportal fibrosis with portal hypertension (liver), urogenital inflammation and scarring, hematuria and dysuria (genitourinary system). Other patients may be asymptomatic.|ORDO|N|
C1866994|Ulnar-mammary syndrome (UMS) is an autosomal dominant disorder characterized by posterior limb deficiencies or duplications, apocrine/mammary gland hypoplasia and/or dysfunction, abnormal dentition, delayed puberty in males, and genital anomalies (Bamshad et al., 1996).|OMIM|N|
C1867003|Developmental hypoplasia of the apocrine sweat glands in the region of the axilla.|HPO|N|
C1867005|A rare genetic neuromuscular disease with characteristics of adult-onset muscle weakness and atrophy in a scapuloperoneal distribution, mild involvement of the facial muscles, dysphagia, and gynaecomastia. Elevated serum CK levels and mixed myopathic and neurogenic abnormalities are associated clinical findings. Caused by heterozygous mutation in the DES gene on chromosome 2q35.|SNOMEDCT_US|N|
C1867020|Scalp-ear-nipple syndrome is characterized by aplasia cutis congenita of the scalp, breast anomalies that range from hypothelia or athelia to amastia, and minor anomalies of the external ears. Less frequent clinical characteristics include nail dystrophy, dental anomalies, cutaneous syndactyly of the digits, and renal malformations. Penetrance appears to be high, although there is substantial variable expressivity within families (Marneros et al., 2013).|OMIM|N|
C1867021|A rare syndrome with limb malformations as a major feature characterized by congenital scalp defects and postaxial polydactyly type A. There is a wide variability of expression, with some patients showing only one of the typical manifestations. There have been no further descriptions in the literature since 1985.|ORDO|N|
C1867023|A rare genetic syndrome with characteristics of cleft palate, large protruding ears, microcephaly and short stature (prenatal onset). Other skeletal abnormalities (delayed bone age, distally tapering fingers, hypoplastic distal phalanges, proximally placed thumbs, fifth finger clinodactyly), Pierre Robin sequence, cystic renal dysplasia, proximal renal tubular acidosis, hypospadia, cerebral anomalies on imaging (enlargement of lateral ventricles, mild cortical atrophy), seizures, hypotonia and developmental delay are also observed.|SNOMEDCT_US|N|
C1867030|Abnormally big lacrimal glands.|HPO|N|
C1867060|No identifiable superior and/or inferior lacrimal punctum.|HPO|N|
C1867103|Limited ability to straighten the arm at the elbow joint.|HPO|N|
C1867131|Visible increase in width of the hallux without an increase in the dorso-ventral dimension.|HPO|N|
C1867132|The presence of unusually deep creases (ridges/wrinkles) on the skin of sole of foot located between the first and second toe.|HPO|N|
C1867138|A type of tremors that is triggered by holding an arm in a fixed position.|HPO|N|
C1867146|The signs and symptoms of Saethre-Chotzen syndrome vary widely, even among affected individuals in the same family. This condition can cause mild changes in the hands and feet, such as partial fusion of the skin between the second and third fingers on each hand and a broad or duplicated first (big) toe. Delayed development and learning difficulties have been reported, although most people with this condition are of normal intelligence. Less common signs and symptoms of Saethre-Chotzen syndrome include short stature, abnormalities of the bones of the spine (the vertebra), hearing loss, and heart defects.\n\nMost people with Saethre-Chotzen syndrome have prematurely fused skull bones along the coronal suture, the growth line that goes over the head from ear to ear. Other parts of the skull may be malformed as well. These changes can result in an abnormally shaped head, a high forehead, a low frontal hairline, droopy eyelids (ptosis), widely spaced eyes, and a broad nasal bridge. One side of the face may appear noticeably different from the other (facial asymmetry). Most people with Saethre-Chotzen syndrome also have small, rounded ears.\n\nRobinow-Sorauf syndrome is a condition with features similar to those of Saethre-Chotzen syndrome, including craniosynostosis and broad or duplicated great toes. It was once considered a separate disorder, but was found to result from mutations in the same gene and is now thought to be a variant of Saethre-Chotzen syndrome.\n\nSaethre-Chotzen syndrome is a genetic condition characterized by the premature fusion of certain skull bones (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face.|MedlinePlus Genetics|N|
C1867147|Rombo syndrome has characteristics of vermiculate atrophoderma, milia, hypotrichosis, trichoepitheliomas, and peripheral vasodilation with cyanosis and basal cell carcinomas. It has been described in four generations of one family and in two additional sporadic cases. The skin lesions become visible between 7 and 10 years of age and are most pronounced on the face. Basal cell carcinomas are frequent and develop at around 35 years of age.|SNOMEDCT_US|N|
C1867155|Ring dermoid of cornea (RDC) is an autosomal dominant condition characterized by bilateral annular limbal dermoids with corneal and conjunctival extension (summary by Xia et al., 2004).|OMIM|N|
C1867234|DICER1 tumor predisposition (DICER1) is characterized by an increased risk for pleuropulmonary blastoma (PPB), pulmonary cysts, thyroid gland neoplasia (multinodular goiter, adenomas, and/or thyroid cancer), ovarian tumors (Sertoli-Leydig cell tumor, gynandroblastoma, and sarcoma), and cystic nephroma. Less commonly observed tumors include ciliary body medulloepithelioma, nasal chondromesenchymal hamartoma, embryonal rhabdomyosarcoma, pituitary blastoma, pineoblastoma, central nervous system (CNS) sarcoma, other CNS tumors, and presacral malignant teratoid tumor. The majority of tumors occur in individuals younger than age 40 years. PPB typically presents in infants and children younger than age six years. Ovarian sex cord-stromal tumors are most often diagnosed before age 40 years. Cystic nephroma generally presents in young children but has also been reported in adolescents. Additional clinical features that may be seen include macrocephaly, ocular abnormalities, structural anomalies of the kidney and collecting system, and dental anomalies (bulbous crowns).|GeneReviews|N|
C1867235|Autosomal dominant form of retinoschisis.|MONDO|N|
C1867261|A retinitis pigmentosa that is characterized pigmentary retinal degeneration with onset in the teens leading to blindness in the sixth ans seventh decades of life.|MONDO|N|
C1867289|Deposition of calcium salts in the retina.|HPO|N|
C1867299|Retinitis pigmentosa-10 (RP10) is characterized in most patients by early onset and rapid progression of ocular symptoms, beginning with night blindness in childhood, followed by visual field constriction. Some patients experience an eventual reduction in visual acuity. Funduscopy shows typical changes of RP, including optic disc pallor, retinal vascular attenuation, and bone-spicule pattern of pigmentary deposits in the retinal midperiphery. Electroretinography demonstrates equal reduction in rod and cone responses (Jordan et al., 1993; Bowne et al., 2002; Bowne et al., 2006).
For a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000.|OMIM|N|
C1867300|Autosomal dominant retinitis pigmentosa (ADRP) is characterized by a typical fundus appearance, narrowed retinal vessels, and changes in the electrophysiological responses of the eye. Early signs are night blindness and constriction of the visual fields with a variable ages of onset (summary by Jay et al., 1992).|OMIM|N|
C1867332|Reticular dystrophy is a disorder of protean manifestations occurring in the retinal pigment epithelium (RPE) with little or no involvement of the neurosensory retina. The disorder may be detected at an early age and may be slowly progressive, but the prognosis for visual acuity is good. Abnormalities of dark adaptation and nyctalopia may develop with time. Electrophysiologic testing may show a normal electroretinogram (ERG), subnormal electrooculogram (EOG), and subnormal results of dark adaptation studies (summary by Kingham et al., 1978).|OMIM|N|
C1867397|This syndrome has manifestation of symmetric, nonopposable triphalangeal thumbs and radial hypoplasia. It has been described in eight patients (five females and three males) spanning generations of a family. The affected males also presented with hypospadias. The syndrome is inherited as an autosomal dominant trait.|SNOMEDCT_US|N|
C1867398|A dislocation of the head of the radius from its socket in the elbow joint in an posterior direction.|HPO|N|
C1867403|Infantile pyloric stenosis is the most common condition requiring surgical intervention in the first year of life. It typically presents in infants 2 to 6 weeks after birth. Clinically the disorder is characterized by projectile vomiting, visible gastric peristalsis, and a palpable pyloric tumor (summary by Everett et al., 2008). Mortality was high until successful treatment by pyloromyotomy was developed by Ramstedt (1912).
Genetic Heterogeneity of Infantile Hypertrophic Pyloric Stenosis
Multiple susceptibility loci have been implicated in IHPS including IHPS1 on chromosome 12q, IHPS2 (610260) on chromosome 16p13-p12, IHPS3 (612017) on chromosome 11q14-q22, IHPS4 (300711) on chromosome Xq23, and IHPS5 (612525) on chromosome 16q24.|OMIM|N|
C1867419|Pulmonary nodular lymphoid hyperplasia (PNHL) is a reactive lymphoid proliferation manifesting as solitary or multiple nodules in the lung.|ORDO|N|
C1867421|An abnormal increase in magnitude of the pressure in the right atrium.|HPO|N|
C1867423|Pulmonary vascular resistance (PVR) more than 3 wood units, as defined by the current definition of pulmonary hypertension. 95% of individuals have a PVR of less than 2.4 wood units.|HPO|N|
C1867437|A rare disorder characterized by the association of ptosis, strabismus and ectopic pupils. It has been described in one family (in a mother and three of her children). Transmission is autosomal dominant.|ORDO|N|
C1867438|Hereditary congenital ptosis occurs in 3 main forms: simple; with external ophthalmoplegia; and with blepharophimosis.
See PTOS2 (300245) for description of an X-linked form of congenital bilateral isolated ptosis.|OMIM|N|
C1867439|Antecubital pterygium syndrome is an autosomal dominant disorder characterized by a fleshy web extending across the anterior aspect of the cubital fossa, absence of the long head of the triceps, limitation of full elbow extension, and missing skin creases over the terminal interphalangeal joints of the fingers (summary by Wallis et al., 1988).|OMIM|N|
C1867440|Contractures, pterygia, and spondylocarpotarsal fusion syndrome-1A (CPSFS1) is characterized by contractures of proximal and distal joints, pterygia involving the neck, axillae, elbows, and/or knees, as well as variable vertebral, carpal, and tarsal fusions and short stature. Progression of vertebral fusions has been observed, and inter- and intrafamilial variability has been reported (Carapito et al., 2016; Zieba et al., 2017; Cameron-Christie et al., 2018).
An autosomal recessive form of CPSFS (CPSFS1B; 618469) is caused by compound heterozygous mutation in the MYH3 gene.|OMIM|N|
C1867441|Pterygium of the conjunctive refers to a wing-shaped thickening in the bulbar conjunctiva. The process begins near one corner of the eye, most commonly the inner canthus. The progressive head is typically fleshy and can infiltrate the cornea and block vision. Surgical excision is curative, although recurrence may occur after surgical removal (summary by Hecht and Shoptaugh, 1990).|OMIM|N|
C1867443|Pterygia, impaired intellectual development, and distinctive craniofacial features is a chromosomal disorder characterized by these cardinal features. Craniofacial features include trigonocephaly and retrognathia. Intellectual development may be severely impaired (summary by Devriendt et al., 2000).|OMIM|N|
C1867449|Psoriasis (psoriasis vulgaris; PV) is a chronic inflammatory dermatosis that affects approximately 2% of the population. It is characterized by red, scaly skin patches that are usually found on the scalp, elbows, and knees, and may be associated with severe arthritis. The lesions are caused by abnormal keratinocyte proliferation and infiltration of inflammatory cells into the dermis and epidermis. The usual age of onset of psoriasis is between 15 and 30 years, although it can present at any age (summary by Matthews et al., 1996).
Generalized pustular psoriasis (GPP) is a life-threatening disease characterized by sudden, repeated episodes of high-grade fever, generalized rash, and disseminated pustules, with hyperleukocytosis and elevated serum levels of C-reactive protein (123260) (summary by Marrakchi et al., 2011). GPP often presents in patients with existing or prior psoriasis vulgaris; however, GPP can develop without a history of PV (Sugiura et al., 2013). Palmoplantar pustulosis and acrodermatitis continua of Hallopeau represent acral forms of pustular psoriasis that have historically been grouped with GPP (summary by Setta-Kaffetzi et al., 2013).
Nestle et al. (2009) provided a detailed review of the pathogenesis and genetics of psoriasis.
Genetic Heterogeneity of Psoriasis and Psoriasis Susceptibility
PSORS2 (602723) is caused by mutation in the CARD14 gene (607211) on chromosome 17q25, and PSORS14 (614204) is caused by mutation in the IL36RN gene (605507) on chromosome 2q14.
Psoriasis susceptibility loci include PSORS1 on 6p21.3; PSORS3 (601454) on 4q; PSORS4 on 1q21; PSORS5 (604316) on 3q21; PSORS6 (605364) on 19p; PSORS7 (605606) on 1p; PSORS8 (610707) on 16q; PSORS9 (607857) on 4q31; PSORS10 (612410) on 18p11; PSORS11 (612599) on 5q31-q33; PSORS12 (612950) on 20q13; PSORS13 (614070), conferred by variation in the TRAF3IP2 gene (607043) on 6q21; and PSORS15 (616106), conferred by variation in the AP1S3 gene (615781) on 2q36.
An additional putative psoriasis candidate locus has been reported on 20p (Nair et al., 1997).|OMIM|N|
C1867450|Pseudoxanthoma elasticum (PXE) is a systemic disorder that affects the elastic tissue of the skin, the eye, and vascular system. Individuals most commonly present with angioid streaks of the retina found on routine eye examination or associated with retinal hemorrhage and/or characteristic papules in the skin. The most frequent cause of morbidity and disability in PXE is reduced vision due to complications of subretinal neovascularizations and macular atrophy. Other manifestations include premature gastrointestinal angina and/or bleeding, intermittent claudication of arm and leg muscles, stroke, renovascular hypertension, and cardiovascular complications (angina/myocardial infarction). Most affected individuals live a normal life span.|GeneReviews|N|
C1867616|A benign tumor typically found at the junction of the cornea and sclera (limbal epibullar dermoid).|HPO|N|
C1867743|Reduction of the diameter of the coronary arteries as the result of an accumulation of atheromatous plaques within the walls of the coronary arteries before age of 45.|HPO|N|
C1867801|An extremely rare syndrome with characteristics of hypoplastic thumbs and halluces, fifth finger brachydactyly, postaxial polydactyly of the hands, short or uniphalangeal second toes with absent nails and hypospadias. It has been described in a father and his son and daughter. The affected patients have normal mental development. Except for postaxial polydactyly of the hands and uniphalangeal second toes with absent nails, features are in common with hand-foot-genital syndrome caused by mutations in the HOXA13 gene. In all three affected individuals, two different sequence alterations were identified in HOXA13 gene: a de novo missense mutation and a deletion in the promoter region of the gene, inherited from an unaffected parent, which may contribute to the phenotype in the affected individuals. The condition is inherited in an autosomal dominant manner.|SNOMEDCT_US|N|
C1867864|An abnormality of the ability (skills) to perform a precise movement of small muscles with the intent to perform a specific act. Fine motor skills are required to mediate movements of the wrists, hands, fingers, feet, and toes.|HPO|N|
C1867904|Long QT syndrome (LQTS) is a cardiac electrophysiologic disorder, characterized by QT prolongation and T-wave abnormalities on the EKG that are associated with tachyarrhythmias, typically the ventricular tachycardia torsade de pointes (TdP). TdP is usually self-terminating, thus causing a syncopal event, the most common symptom in individuals with LQTS. Such cardiac events typically occur during exercise and emotional stress, less frequently during sleep, and usually without warning. In some instances, TdP degenerates to ventricular fibrillation and causes aborted cardiac arrest (if the individual is defibrillated) or sudden death. Approximately 50% of untreated individuals with a pathogenic variant in one of the genes associated with LQTS have symptoms, usually one to a few syncopal events. While cardiac events may occur from infancy through middle age, they are most common from the preteen years through the 20s. Some types of LQTS are associated with a phenotype extending beyond cardiac arrhythmia. In addition to the prolonged QT interval, associations include muscle weakness and facial dysmorphism in Andersen-Tawil syndrome (LQTS type 7); hand/foot, facial, and neurodevelopmental features in Timothy syndrome (LQTS type 8); and profound sensorineural hearing loss in Jervell and Lange-Nielson syndrome.|GeneReviews|N|
C1867924|A rare genetic congenital limb malformation disorder with characteristics of isolated, postaxial oligodactyly in all four extremities. Patients present a consistent pattern of malformation ranging from complete absence of the 5th metacarpals, metatarsals and phalanges to complete absence of the 5th metacarpals and metatarsals, with some residual distal 5th phalanges. There have been no further descriptions in the literature since 1993.|SNOMEDCT_US|N|
C1867929|Absence of the fifth long bone of the hand.|HPO|N|
C1867930|Osseous fusion of the lunate and triquetrum.|HPO|N|
C1867932|A developmental abnormality characterized by the absence of the fifth metatarsal bone.|HPO|N|
C1867968|De Verneuil et al. (1978) classified porphyria cutanea tarda (PCT), the most common type of porphyria, into 2 types: type I, or 'sporadic' type, associated with approximately 50% level of uroporphyrinogen decarboxylase (UROD; 613521) in liver (Elder et al., 1978; Felsher et al., 1982), and type II, or 'familial' type (176100), characterized by 50% deficient activity of the same enzyme in many tissues (Kushner et al., 1976; Elder et al., 1980).
Type I is the most common form of PCT, comprising 70 to 80% of cases. The causes of the deficiency are often unclear and are probably multifactorial (review by Lambrecht et al., 2007).|OMIM|N|
C1867981|Porokeratosis is a rare skin disorder characterized by one or more annular plaques with a surrounding raised horny border that spreads centrifugally. Variants of porokeratosis have been described that differ in morphologic shapes, distribution, and clinical course (Schamroth et al., 1997). However, as noted by Sybert (2010), several families with expression of more than one variant of porokeratosis among members, and individuals expressing more than one variant, have been reported, suggesting that the distinctions among these variants may be artificial.
Mutations in the MVK gene have been found to cause multiple types of porokeratosis, which have been described as disseminated superficial actinic porokeratosis (DSAP), nonactinic disseminated superficial porokeratosis (DSP), porokeratosis of Mibelli, giant plaque of porokeratosis ptychotropica, hyperkeratotic porokeratosis, and linear porokeratosis.
The preferred title of this entry was formerly 'Porokeratosis 3, Disseminated Superficial Actinic Type; POROK3.'
Disseminated superficial actinic porokeratosis is the most common subtype of porokeratosis. It is characterized by multiple small, annular, anhidrotic, keratotic lesions that are located predominantly on sun-exposed areas of the skin, such as the face, neck, and distal limbs. The lesions typically begin to develop in adolescence and reach near-complete penetrance by the third or fourth decade of life (summary by Wu et al., 2004 and Zhang et al., 2012).
For a discussion of genetic heterogeneity of porokeratosis, see 175800.|OMIM|N|
C1867982|A type of isolated punctate hereditary palmoplantar keratoderma with characteristics of multiple asymptomatic 1 to 2 mm-long, firm, hyperkeratotic projections (spiny keratosis) on the palms, soles and digits (typically confined to their volar and/or lateral aspects). Histopathologically compact columnar parakeratosis over hypo or agranular epidermis is observed.|SNOMEDCT_US|N|
C1867983|Familial porencephaly is part of a group of conditions called the COL4A1-related disorders. The conditions in this group have a range of signs and symptoms that involve fragile blood vessels. In familial porencephaly, fluid-filled cysts develop in the brain (porencephaly) during fetal development or soon after birth. These cysts typically occur in only one side of the brain and vary in size. The cysts are thought to be the result of bleeding within the brain (hemorrhagic stroke). People with this condition also have leukoencephalopathy, which is a change in a type of brain tissue called white matter that can be seen with magnetic resonance imaging (MRI).\n\nDuring infancy, people with familial porencephaly typically have paralysis affecting one side of the body (infantile hemiplegia). Affected individuals may also have recurrent seizures (epilepsy), migraine headaches, speech problems, intellectual disability, and uncontrolled muscle tensing (dystonia). Some people are severely affected, and others may have no symptoms related to the brain cysts.|MedlinePlus Genetics|N|
C1867999|A rare genetic congenital limb malformation disorder with characteristics of unilateral or bilateral postaxial polydactyly in the hands and preaxial polydactyly in the feet, associated with bilateral cutaneous syndactyly of first, second and third toes. Cutaneous syndactyly in hands has also been reported in some patients. There have been no further descriptions in the literature since 1994.|SNOMEDCT_US|N|
C1868001|Multiple polyps in the acid-secreting mucosa of the gastric body and fundus. Fundic gland polyps (FGP) are usually 1 to 5 mm in size, though larger polyps have been found. FGPs are typically sessile, shiny, translucent, pale to pinkish in color (resembling the surrounding mucosa), and often exhibit tiny surface blood vessels. These polyps have characteristically been observed to chunk off or detach entirely at the base when removed with cold forceps, in contrast to other types of gastric polyps.|HPO|N|
C1868071|Presence of multiple adenomatous polyps in the colon.|HPO|N|
C1868081|Juvenile polyposis syndrome (JPS) is characterized by predisposition to hamartomatous polyps in the gastrointestinal (GI) tract, specifically in the stomach, small intestine, colon, and rectum. The term "juvenile" refers to the type of polyp rather than to the age of onset of polyps. Most individuals with JPS have some polyps by age 20 years; some may have only four or five polyps over their lifetime, whereas others in the same family may have more than 100. If the polyps are left untreated, they may cause bleeding and anemia. Most juvenile polyps are benign; however, malignant transformation can occur. Risk for GI cancers ranges from 11% to 86%. Most of this increased risk is attributed to colon cancer, but cancers of the stomach, upper GI tract, and pancreas have also been reported. A combined syndrome of JPS and hereditary hemorrhagic telangiectasia (HHT) is present in most individuals with an SMAD4 pathogenic variant.|GeneReviews|N|
C1868085|Excessive growth of the craniofacial bones.|HPO|N|
C1868111|Although both preaxial polydactyly and syndactyly are cardinal features of this malformation, it is classified as a form of polydactyly because syndactyly does not occur in the absence of polydactyly (McClintic, 1935), the opposite not being true. On the other hand, polysyndactyly is here classified as a type of syndactyly because polydactyly (of the third or fourth fingers and fifth toes) does not occur in the absence of syndactyly. The thumb shows only the mildest degree of duplication, and syndactyly of various degrees affects fingers 3 and 4. The foot malformation is more constant and consists of duplication of part or all of the first or second toes and syndactyly affects all of the toes, especially the second and third.|OMIM|N|
C1868113|A limb malformation syndrome, where the thumb is replaced by one or two triphalangeal digits with dermatoglyphic pattern specific of the index finger. Two forms of PPD3 have been described, unilateral and bilateral. There have been no further descriptions in the literature since 1962.|SNOMEDCT_US|N|
C1868114|Preaxial polydactyly II (PPD2) is a limb malformation in which duplication, full or partial, of the first digital ray of hands or feet results in extra digits. Triphalangeal thumb is characterized by the presence of 3 phalanges within the thumb. The extra middle phalanx may be fully formed, trapezoidal, or a small triangular 'delta' phalanx; the thumb may be opposable or nonopposable. Preaxial polydactyly and triphalangeal thumb may cosegregate, or each occur in isolation, within families with mutation in the zone of polarizing activity (ZPA) regulatory sequence (ZRS), a regulatory element for the SHH gene (600725) that is contained within intron 5 of the LMBR1 gene (Heutink et al., 1994; Furniss et al., 2008; VanderMeer et al., 2014).|OMIM|N|
C1868117|An exceedingly rare autosomal dominant developmental anomaly reported in 1986 in nine individuals among four generations of the same family. The syndrome has clinical characteristics of four-limb postaxial polydactyly and progressive myopia. There have been no further descriptions in the literature since 1986.|SNOMEDCT_US|N|
C1868118|Orofaciodigital syndrome V (OFD5) is an autosomal recessive disorder characterized by cleft palate/uvula, lobulated tongue, frontal bossing, hypertelorism, postaxial polydactyly, and impaired intellectual development (summary by Faily et al., 2017).|OMIM|N|
C1868120|In postaxial polydactyly type B the extra digit is rudimentary and poorly developed.|SNOMEDCT_US|N|
C1868139|Autosomal dominant tubulointerstitial kidney disease – MUC1 (ADTKD-MUC1) is characterized by slowly progressive tubulointerstitial disease that leads to end-stage renal disease (ESRD) and the need for dialysis or kidney transplantation. The rate of loss of kidney function for individuals is variable within and between families, with a median age of onset of end-stage renal disease (ESRD) of 46 years (range: ages 20-70 years). There are no other systemic manifestations.|GeneReviews|N|
C1868158|Aplasia (congenital absence) of the pectoralis minor.|HPO|N|
C1868167|Underdevelopment of the serratus anterior muscle, which is involved in abduction, upward Rotation, and elevation of the scapula.|HPO|N|
C1868170|Underdevelopment of the deltoid muscle.|HPO|N|
C1868193|Primary spontaneous pneumothorax (PSP) is a condition in which air enters the pleural space and causes secondary lung collapse. It is mostly sporadic but also occurs in families. It is associated with bullae in the lungs of most patients (summary by Painter et al., 2005).
Birt-Hogg-Dube syndrome (BHD; 135150), which is characterized by spontaneous pneumothorax as well as by fibrofolliculomas of the skin and increased risk of renal and colonic tumors, is also caused by mutation in the FLCN gene. Gunji et al. (2007) suggested that isolated primary spontaneous pneumothorax associated with FLCN mutations may be part of the clinical spectrum of BHD, showing incomplete disease penetrance.
Spontaneous pneumothorax is a complication of certain heritable disorders of connective tissue, particularly the Marfan syndrome (154700) and the Ehlers-Danlos syndrome (see, e.g., 130000). Pulmonary bullae can also occur with alpha-1-antitrypsin deficiency (613490).|OMIM|N|
C1868252|Sudden onset of thrombocytopenia (reduced platelet count) within 5-10 days of the transfusion of blood products. The clinical presentation is post-transfusion purpura (PTP), wigth severe thrmbocytopenia, epistaxis, and hemorrhages.|HPO|N|
C1868263|Clumping together of platelets in the blood in a platelet aggregation test without addition of agents normally used to induce aggregation.|HPO|N|
C1868309|Robin sequence-oligodactyly syndrome is a rare, genetic, developmental defect during embryogenesis syndrome characterized by Robin sequence (i.e. severe micrognathia, retroglossia and U-shaped cleft of the posterior palate) associated with pre- and postaxial oligodactyly. Facial features can include a narrow face and narrow lower dental arch. Clinodactyly, absent phalanx, metacarpal fusions, and hypoplastic carpals have also been reported. There have been no further descriptions in the literature since 1986.|ORDO|N|
C1868310|Pigmented paravenous chorioretinal atrophy is a stationary disease of the ocular fundus in which bone corpuscle pigmentation is seen in a paravenous distribution. Patients are usually asymptomatic; diagnosis is based on the characteristic fundus appearance. Most cases have been reported in males (summary by Traboulsi and Maumenee, 1986).|OMIM|N|
C1868311|A rare genetic pigmentation anomaly of the skin syndrome with characteristics of ventral as well as dorsal leukoderma of the trunk and a congenital white forelock in association with cerebellar ataxia, impaired motor coordination, intellectual disability of variable severity and progressive, mild to profound, unilateral or bilateral sensorineural hearing loss. There have been no further descriptions in the literature since 1971.|SNOMEDCT_US|N|
C1868390|Rare syndrome with features of phocomelia (involving arms more severely), ectrodactyly, ear anomalies (bilateral anomalies of the pinnae), conductive deafness, dysmorphism (long and prominent philtrum, mild maxillary hypoplasia) and sinus arrhythmia. It has been described in four patients from two unrelated families.|SNOMEDCT_US|N|
C1868393|The concentration of epinephrine in the urine, normalized for urine concentration, is above the upper limit of normal.|HPO|N|
C1868394|Concentration of calcitonin, a 32-amino acid polypeptide hormone that is produced primarily by the parafollicular cells of the thyroid, in the blood circulation above the upper limit of normal.|HPO|N|
C1868502|Pemphigus vulgaris (PV) is a rare, blistering autoimmune disease that affects the skin and mucous membranes. Patients have circulating antibody to an intercellular cement substance, and deposition in vivo of this antibody is a hallmark of the disease. The antibody appears to be pathogenetic, since newborn infants of mothers with pemphigus may have blisters, and newborn mice injected with the antibody from patients have clinical pemphigus. The disease is reported to have a particularly high incidence among Jews (summary by Ahmed et al., 1990).|OMIM|N|
C1868508|A rare focal skeletal dysostosis with characteristics of symmetrical hypoplasia of the scapulae and the iliac wings of the pelvis. Approximately 10 patients have been reported so far. Additional skeletal abnormalities may include hypoplasia of the clavicles, ribs, femora and fibula, together with spina bifida and prominent lumbar lordosis. Eye anomalies (coloboma of iris and retina) have occasionally been reported. Intelligence is described as normal. Pelvis-shoulder dysplasia seems to be a genetically heterogeneous disorder but no causative genes have been identified so far.|SNOMEDCT_US|N|
C1868512|LMNB1-related autosomal dominant leukodystrophy (ADLD) is a slowly progressive disorder of central nervous system white matter characterized by onset of autonomic dysfunction in the fourth to fifth decade, followed by pyramidal and cerebellar abnormalities resulting in spasticity, ataxia, and tremor. Autonomic dysfunction can include bladder dysfunction, constipation, postural hypotension, erectile dysfunction, and (less often) impaired sweating. Pyramidal signs are often more prominent in the lower extremities (e.g., spastic weakness, hypertonia, clonus, brisk deep tendon reflexes, and bilateral Babinski signs). Cerebellar signs typically appear at the same time as the pyramidal signs and include gait ataxia, dysdiadochokinesia, intention tremor, dysmetria, and nystagmus. Many individuals have sensory deficits starting in the lower limbs. Pseudobulbar palsy with dysarthria, dysphagia, and forced crying and laughing may appear in the seventh or eighth decade. Although cognitive function is usually preserved or only mildly impaired early in the disease course, dementia and psychiatric manifestations can occur as late manifestations. Affected individuals may survive for decades after onset.|GeneReviews|N|
C1868524|Impotence (inability to develop or maintain an erection) resulting from abnormal functioning of the autonomic nervous system.|HPO|N|
C1868546|A rare genetic adrenal disorder with characteristics of congenital bronzed hyperpigmentation, cutis laxa of the hands and feet, body disproportion (comprising large hands, feet, nose and ears), hirsutism and severe intellectual disability. Patients additionally present hyperadrenocorticism, cushingoid features, premature adrenarche and diabetes mellitus, as well as skeletal deformities (not present at birth and which progress with age). There have been no further descriptions in the literature since 1981.|SNOMEDCT_US|N|
C1868570|Char syndrome is characterized by the triad of typical facial features, patent ductus arteriosus, and aplasia or hypoplasia of the middle phalanges of the fifth fingers. Typical facial features are depressed nasal bridge and broad flat nasal tip, widely spaced eyes, downslanted palpebral fissures, mild ptosis, short philtrum with prominent philtral ridges with an upward pointing vermilion border resulting in a triangular mouth, and thickened (patulous) everted lips. Less common findings include other types of congenital heart defects, other hand and foot anomalies, hypodontia, hearing loss, myopia and/or strabismus, polythelia, parasomnia, craniosynostosis (involving either the metopic or sagittal suture), and short stature.|GeneReviews|N|
C1868571|Increased height of the central portion of the eyebrow, forming a crescent, semicircular, or inverted U shape.|HPO|N|
C1868573|Fusion of the terminal/distal and middle phalanges of the 5th finger.|HPO|N|
C1868576|Paroxysmal type neuroocular syndrome-2 (NOC2) is characterized by daily paroxysmal spells characterized by eye deviation or nystagmus with abnormal head posturing apparent from birth or early infancy. The episodes tend to be triggered after sleeping, and most patients show improvement of the ocular symptoms over time. Affected individuals also have hypotonia, mild developmental delay, dysarthria, and gait ataxia; most have mildly impaired intellectual development. Seizures are not observed.
For a discussion of genetic heterogeneity of neuroocular syndrome, see NOC1 (619539).|OMIM|N|
C1868577|Absence or underdevelopment of the patella.|HPO|N|
C1868578|Absence of the patella.|HPO|N|
C1868594|The spectrum of DCTN1-related neurodegeneration includes Perry syndrome, distal hereditary motor neuronopathy type 7B (dHMN7B), frontotemporal dementia (FTD), motor neuron disease / amyotrophic lateral sclerosis (ALS), and progressive supranuclear palsy. Some individuals present with overlapping phenotypes (e.g., FTD-ALS, Perry syndrome-dHMN7B). Perry syndrome (the most common of the phenotypes associated with DCTN1) is characterized by parkinsonism, neuropsychiatric symptoms, hypoventilation, and weight loss. The mean age of onset in those with Perry syndrome is 49 years (range: 35-70 years), and the mean disease duration is five years (range: 2-14 years). In most affected persons, the reported cause/circumstance of death relates to sudden death/hypoventilation or suicide.|GeneReviews|N|
C1868595|Parkinson disease is the second most common neurogenic disorder after Alzheimer disease (AD; 104300), affecting approximately 1% of the population over age 50. Clinical manifestations include resting tremor, muscular rigidity, bradykinesia, and postural instability. Additional features are characteristic postural abnormalities, dysautonomia, dystonic cramps, and dementia (Polymeropoulos et al., 1996).
For a general phenotypic description and a discussion of genetic heterogeneity of Parkinson disease, see 168600.|OMIM|N|
C1868597|Enlarged parietal foramina are characteristic symmetric, paired radiolucencies of the parietal bones, located close to the intersection of the sagittal and lambdoid sutures, caused by deficient ossification around the parietal notch, which is normally obliterated by the fifth month of fetal development. Enlarged parietal foramina are usually asymptomatic. Meningeal, cortical, and vascular malformations of the posterior fossa occasionally accompany the bone defects and may predispose to epilepsy. In a minority of individuals, headaches, vomiting, or intense local pain are sometimes associated with the defects, especially on application of mild pressure to the unprotected cerebral cortex.|GeneReviews|N|
C1868598|The enlarged parietal foramina are soft to the touch due to the lack of bone at those areas of the skull. People with enlarged parietal foramina usually do not have any related health problems; however, scalp defects, seizures, and structural brain abnormalities have been noted in a small percentage of affected people. Pressure applied to the openings can lead to severe headaches, and individuals with this condition have an increased risk of brain damage or skull fractures if any trauma is experienced in the area of the openings.\n\nThere are two forms of enlarged parietal foramina, called type 1 and type 2, which differ in their genetic cause.\n\nEnlarged parietal foramina is an inherited condition of impaired skull development. It is characterized by enlarged openings (foramina) in the parietal bones, which are the two bones that form the top and sides of the skull. This condition is due to incomplete bone formation (ossification) within the parietal bones. The openings are symmetrical and circular in shape, ranging in size from a few millimeters to several centimeters wide. Parietal foramina are a normal feature of fetal development, but typically they close before the baby is born, usually by the fifth month of pregnancy. However, in people with this condition, the parietal foramina remain open throughout life.|MedlinePlus Genetics|N|
C1868599|Enlarged parietal foramina are characteristic symmetric, paired radiolucencies of the parietal bones, located close to the intersection of the sagittal and lambdoid sutures, caused by deficient ossification around the parietal notch, which is normally obliterated by the fifth month of fetal development. Enlarged parietal foramina are usually asymptomatic. Meningeal, cortical, and vascular malformations of the posterior fossa occasionally accompany the bone defects and may predispose to epilepsy. In a minority of individuals, headaches, vomiting, or intense local pain are sometimes associated with the defects, especially on application of mild pressure to the unprotected cerebral cortex.|GeneReviews|N|
C1868616|The autosomal dominant TRPV4 disorders (previously considered to be clinically distinct phenotypes before their molecular basis was discovered) are now grouped into neuromuscular disorders and skeletal dysplasias; however, the overlap within each group is considerable. Affected individuals typically have either neuromuscular or skeletal manifestations alone, and in only rare instances an overlap syndrome has been reported. The three autosomal dominant neuromuscular disorders (mildest to most severe) are: Charcot-Marie-Tooth disease type 2C. Scapuloperoneal spinal muscular atrophy. Congenital distal spinal muscular atrophy. The autosomal dominant neuromuscular disorders are characterized by a congenital-onset, static, or later-onset progressive peripheral neuropathy with variable combinations of laryngeal dysfunction (i.e., vocal fold paresis), respiratory dysfunction, and joint contractures. The six autosomal dominant skeletal dysplasias (mildest to most severe) are: Familial digital arthropathy-brachydactyly. Autosomal dominant brachyolmia. Spondylometaphyseal dysplasia, Kozlowski type. Spondyloepiphyseal dysplasia, Maroteaux type. Parastremmatic dysplasia. Metatropic dysplasia. The skeletal dysplasia is characterized by brachydactyly (in all 6); the five that are more severe have short stature that varies from mild to severe with progressive spinal deformity and involvement of the long bones and pelvis. In the mildest of the autosomal dominant TRPV4 disorders life span is normal; in the most severe it is shortened. Bilateral progressive sensorineural hearing loss (SNHL) can occur with both autosomal dominant neuromuscular disorders and skeletal dysplasias.|GeneReviews|N|
C1868619|An autosomal dominant inherited non-dystrophic myotonia caused by mutations of the SCN4A gene. It is characterized by muscle stiffness, which is increased by exposure to cold but does not change to flaccid paralysis with intense cooling.|NCI|N|
C1868623|Difficulty releasing one's grip associated with prolonged first handgrip relaxation times.|HPO|N|
C1868633|Paragangliomas and pheochromocytomas can occur in individuals with other inherited disorders, such as von Hippel-Lindau syndrome, Carney-Stratakis syndrome, and certain types of multiple endocrine neoplasia. These other disorders feature additional tumor types and have different genetic causes. Some paragangliomas and pheochromocytomas occur in people with no history of the tumors in their families and appear not to be inherited. These cases are designated as sporadic.\n\nResearchers have identified several types of hereditary paraganglioma-pheochromocytoma. Each type is distinguished by its genetic cause. People with types 1, 2, and 3 typically develop paragangliomas in the head or neck region. People with type 4 usually develop extra-adrenal paragangliomas in the abdomen and are at higher risk for malignant tumors that metastasize. The other types are very rare. Hereditary paraganglioma-pheochromocytoma is typically diagnosed in a person's 30s.\n\nParagangliomas and pheochromocytomas are typically considered an undetermined tumor type, meaning they can be noncancerous (benign) or become cancerous (malignant) and spread to other parts of the body (metastasize). Extra-adrenal paragangliomas become malignant more often than other types of paraganglioma or pheochromocytoma.\n\nMost paragangliomas are associated with ganglia of the parasympathetic nervous system, which controls involuntary body functions such as digestion and saliva formation. Parasympathetic paragangliomas, typically found in the head and neck, usually do not produce hormones. However, large tumors may cause signs and symptoms such as coughing, hearing loss in one ear, or difficulty swallowing.\n\nPheochromocytomas and some other paragangliomas are associated with ganglia of the sympathetic nervous system. The sympathetic nervous system controls the "fight-or-flight" response, a series of changes in the body due to hormones released in response to stress. Sympathetic paragangliomas found outside the adrenal glands, usually in the abdomen, are called extra-adrenal paragangliomas. Most sympathetic paragangliomas, including pheochromocytomas, produce hormones called catecholamines, such as epinephrine (adrenaline) or norepinephrine. These excess catecholamines can cause signs and symptoms such as high blood pressure (hypertension), episodes of rapid heartbeat (palpitations), headaches, or sweating.\n\nHereditary paraganglioma-pheochromocytoma is an inherited condition characterized by the growth of tumors in structures called paraganglia. Paraganglia are groups of cells that are found near nerve cell bunches called ganglia. A tumor involving the paraganglia is known as a paraganglioma. A type of paraganglioma known as a pheochromocytoma develops in the adrenal glands, which are located on top of each kidney and produce hormones in response to stress. Other types of paraganglioma are usually found in the head, neck, or trunk. People with hereditary paraganglioma-pheochromocytoma develop one or more paragangliomas, which may include pheochromocytomas.|MedlinePlus Genetics|N|
C1868647|A rare benign neoplasm that arises in the area of the nipple. Clinically, it usually presents as a tender erythematous crusting lesion with hardening of the nipple. Morphologically, there is proliferation of ducts lined with epithelial and myoepithelial cells and focal erosion of the epidermis.|MONDO|N|
C1868649|The DSM-IV (American Psychiatric Association, 1994) defines panic disorder as the spontaneous, unexpected occurrence of panic attacks followed by persistent concern, worry, and anxiety about having additional panic attacks. Panic attacks are defined as a discrete period of intense fear or discomfort in which at least 4 of 13 symptom criteria are met that develop abruptly and reach a peak within 10 minutes. Some of these criteria include cardiac palpitations, sweating, feelings of choking, fear of losing control, and fear of dying. Panic disorder is divided into panic disorder with or without accompanying agoraphobia. However, agoraphobia can also occur without panic disorder, and panic attacks can occur in the absence of panic disorder. Comorbidity with depressive and addictive disorders is frequent.
Barlow et al. (1994) and Smoller and Tsuang (1998) noted that because the diagnostic criteria remain purely clinical, the nosology of anxiety disorders, such as panic disorder, is controversial and evolving. Therefore, it is difficult to do genetic studies because of the difficulty in delineating overlapping phenotypes within the broader context of anxiety disorders. For example, there may be overlap of panic with specific phobias, variable expressivity of panic and anxiety or depression, or phenocopies within a family. The terms 'anxiety neurosis' and 'phobic neurosis' were used in the past (before the DSM-III in 1980) to encompass all of these disorders. Smoller and Tsuang (1998) suggested that dimensional personality traits, such as shyness, behavioral inhibition, and neuroticism (see 607834), could be used to define an anxiety phenotype.
Schumacher et al. (2011) provided a review of the genetics of panic disorder. They noted that there is high (80%) comorbidity with other psychiatric disorders, including agoraphobia, mood disorders, substance abuse, and other anxiety disorders. Associated personality traits include anxiety sensitivity, behavioral inhibition, neuroticism, and harm avoidance. Women are more susceptible to development of the disorder, which has an average age of onset at 23.6 years.
Genetic Heterogeneity of Susceptibility to Panic Disorder
Susceptibility to panic disorder-1 (PAND1) has been mapped to chromosome 13q. See also PAND2 (607853), mapped to chromosome 9, and PAND3 (609985), mapped to chromosome 4.|OMIM|N|
C1868659|Partial dorsal agenesis, or congenital short pancreas, is characterized by the presence of the accessory papilla, the terminal end of the main dorsal duct of Santorini, or the pancreatic body. All of these structures are missing in complete dorsal agenesis of the pancreas (Wildling et al., 1993).|OMIM|N|
C1868660|Nasopalpebral lipoma-coloboma syndrome (NPLCS) is an autosomal dominant condition characterized by upper eyelid and nasopalpebral lipomas, colobomas of upper and lower eyelids, telecanthus, and maxillary hypoplasia (summary by Suresh et al., 2011).|OMIM|N|
C1868672|Steroid-resistant nephrotic syndrome type 2 is an autosomal recessive disorder characterized clinically by childhood onset of proteinuria, hypoalbuminemia, hyperlipidemia, and edema. Kidney biopsies show nonspecific histologic changes such as minimal change, focal segmental glomerulosclerosis (FSGS), and diffuse mesangial proliferation. The disorder is resistant to steroid treatment and progresses to end-stage renal failure in the first or second decades (summary by Fuchshuber et al., 1996). Some patients show later onset of the disorder (Tsukaguchi et al., 2002).
For a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome and FSGS, see NPHS1 (256300).|OMIM|N|
C1868675|Parkin type of early-onset Parkinson disease (PARK-Parkin) is characterized by the cardinal signs of Parkinson disease (PD): bradykinesia, resting tremor, and rigidity. The median age at onset is 31 years (range: 3-81 years). The disease is slowly progressive: disease duration of more than 50 years has been reported. Clinical findings vary; hyperreflexia is common. Lower-limb dystonia may be a presenting sign and cognitive decline appears to be no more frequent than in the general population. Dyskinesia as a result of treatment with levodopa frequently occurs.|GeneReviews|N|
C1868677|The photoparoxysmal response (PPR), also referred to as photosensitivity, is defined as the abnormal occurrence of cortical spikes or spike and wave discharges on electroencephalogram (EEG) in response to intermittent light stimulation (Doose and Waltz, 1993).
Photosensitivity is a frequent finding in patients with idiopathic generalized epilepsy (see 600669), especially those with juvenile myoclonic epilepsy, suggesting a common epileptogenic pathway for both phenomena. The comorbidity of the 2 disorders suggests that presence of PPR may also increase the risk for epilepsy (Stephani et al., 2004; Tauer et al., 2005).
Genetic Heterogeneity of Photoparoxysmal Response
The PPR1 locus has been mapped to chromosome 6p21. See also PPR2 (609572), mapped to chromosome 13q31, and PPR3 (609573), mapped to chromosome 7q32.|OMIM|N|
C1868678|Thanatophoric dysplasia (TD) is a short-limb skeletal dysplasia that is usually lethal in the perinatal period. TD is divided into subtypes: TD type I is characterized by micromelia with bowed femurs and, uncommonly, the presence of craniosynostosis of varying severity. TD type II is characterized by micromelia with straight femurs and uniform presence of moderate-to-severe craniosynostosis with cloverleaf skull deformity. Other features common to type I and type II include: short ribs, narrow thorax, relative macrocephaly, distinctive facial features, brachydactyly, hypotonia, and redundant skin folds along the limbs. Most affected infants die of respiratory insufficiency shortly after birth. Rare long-term survivors have been reported.|GeneReviews|N|
C1868679|Griscelli syndrome type 2 (GS2) is an autosomal recessive disorder characterized by pigmentary dilution of the skin and hair, the presence of large clumps of pigment in hair shafts, and an accumulation of melanosomes in melanocytes. Patients also have immunologic abnormalities with or without neurologic impairment (summary by Menasche et al., 2000). Some GS2 patients have been reported in whom central nervous system manifestations are the first presentation (Rajadhyax et al., 2007, Masri et al., 2008; Mishra et al., 2014; Lee et al., 2017).
For a discussion of phenotypic and genetic heterogeneity of Griscelli syndrome, see Griscelli syndrome type 1 (GS1; 214450).|OMIM|N|
C1868681|ATP1A3-related neurologic disorders represent a clinical continuum in which at least three distinct phenotypes have been delineated: rapid-onset dystonia-parkinsonism (RDP); alternating hemiplegia of childhood (ACH); and cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS). However, some affected individuals have intermediate phenotypes or only a few features that do not fit well into one of these major phenotypes. RDP has been characterized by: abrupt onset of dystonia over days to weeks with parkinsonism (primarily bradykinesia and postural instability); common bulbar involvement; and absence or minimal response to an adequate trial of L-dopa therapy, with few exceptions. Often fever, physiologic stress, or alcoholic binges trigger the onset of symptoms. After their initial appearance, symptoms often stabilize with little improvement; occasionally second episodes occur with abrupt worsening of symptoms. Rarely, affected individuals have reported a more gradual onset of symptoms over weeks to months. Anxiety, depression, and seizures have been reported. Age of onset ranges from four to 55 years, although a childhood variation of RDP with onset between ages nine and 14 months has been reported. AHC is a complex neurodevelopmental syndrome most frequently manifesting in infancy or early childhood with paroxysmal episodic neurologic dysfunction including alternating hemiparesis or dystonia, quadriparesis, seizure-like episodes, and oculomotor abnormalities. Episodes can last for minutes, hours, days, or even weeks. Remission of symptoms occurs with sleep and immediately after awakening. Over time, persistent neurologic deficits including oculomotor apraxia, ataxia, choreoathetosis, dystonia, parkinsonism, and cognitive and behavioral dysfunction develop in the majority of those affected; more than 50% develop epilepsy in addition to their episodic movement disorder phenotype. CAPOS (cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss) syndrome is characterized by episodes of ataxic encephalopathy and/or weakness during and after a febrile illness. Onset is between ages six months and four years. Some acute symptoms resolve; progression of sensory losses and severity vary.|GeneReviews|N|
C1868682|Paroxysmal kinesigenic choreoathetosis (PKC) is an autosomal dominant neurologic condition characterized by recurrent and brief attacks of involuntary movement triggered by sudden voluntary movement. These attacks usually have onset during childhood or early adulthood and can involve dystonic postures, chorea, or athetosis. Symptoms become less severe with age and show favorable response to anticonvulsant medications such as carbamazepine or phenytoin. It is the most common type of paroxysmal movement disorder. The condition is often misdiagnosed as an epileptic manifestation (summary by Chen et al., 2011).
PKC shares some clinical features with benign familial infantile convulsions (BFIC2; 605751) and infantile convulsions and paroxysmal choreoathetosis (ICCA; 602066), which are allelic disorders.
See also rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp (608105), which maps to chromosome 16p12-p11.2.
Genetic Heterogeneity of Episodic Kinesigenic Dyskinesia
See also EKD2 (611031), which maps to chromosome 16q13-q22.1, and EKD3 (620245), caused by mutation in the TMEM151A gene (620108) on chromosome 11q13.|OMIM|N|
C1868684|Meier-Gorlin syndrome is a condition primarily characterized by short stature. It is considered a form of primordial dwarfism because the growth problems begin before birth (intrauterine growth retardation). After birth, affected individuals continue to grow at a slow rate. Other characteristic features of this condition are underdeveloped or missing kneecaps (patellae), small ears, and, often, an abnormally small head (microcephaly). Despite a small head size, most people with Meier-Gorlin syndrome have normal intellect.\n\nSome people with Meier-Gorlin syndrome have other skeletal abnormalities, such as unusually narrow long bones in the arms and legs, a deformity of the knee joint that allows the knee to bend backwards (genu recurvatum), and slowed mineralization of bones (delayed bone age).\n\nMost people with Meier-Gorlin syndrome have distinctive facial features. In addition to being abnormally small, the ears may be low-set or rotated backward. Additional features can include a small mouth (microstomia), an underdeveloped lower jaw (micrognathia), full lips, and a narrow nose with a high nasal bridge.\n\nAbnormalities in sexual development may also occur in Meier-Gorlin syndrome. In some males with this condition, the testes are small or undescended (cryptorchidism). Affected females may have unusually small external genital folds (hypoplasia of the labia majora) and small breasts. Both males and females with this condition can have sparse or absent underarm (axillary) hair.\n\nAdditional features of Meier-Gorlin syndrome can include difficulty feeding and a lung condition known as pulmonary emphysema or other breathing problems.|MedlinePlus Genetics|N|
C1868685|Multiple sclerosis (MS) is a chronic inflammatory demyelinating disorder of the central nervous system (CNS) with various degrees of axonal damage. MS affects mainly young adults with predominance for females. The disorder often leads to substantial disability (summary by Bomprezzi et al., 2003).
Genetic Heterogeneity of Susceptibility to Multiple Sclerosis
Additional MS susceptibility loci include MS2 (612594) on chromosome 10p15, MS3 (612595) on chromosome 5p13, MS4 (612596) on chromosome 1p36, and MS5 (614810), conferred by variation in the TNFRSF1A gene (191190) on chromosome 12p13.|OMIM|N|
C1868690|Hereditary forms of Addison disease that may exhibit autosomal recessive or X-linked inheritance. They are characterized by severe neurological symptoms, APNEA; and death in infancy. OMIM: 240200|MSH|N|
C1868703|Bacterial infectious process with formation of mucopurulent membranes affecting the trachea. Causative agents include Staphylococcus, Streptococcus, Haemophilus influenzae, Pseudomonas, and Klebsiella.|NCI|N|
C1868705|Shone complex is a rare congenital cardiac malformation characterized by a complex of four obstructive lesions of the left heart: supravalvular mitral membrane, parachute mitral valve, muscular or membranous subvalvular aortic stenosis and coarctation of aorta. Clinical manifestations include heart murmur, shortness of breath and increased load intolerance, left ventricular hypertrophy and dilatation of the left atrium. Partial forms, involving only two or three out of the four specific anomalies, are also described and occasionally other cardiovascular anomalies (e.g. bicuspid aortic valve, patent ductus arteriosus, ventricular septal defect) may be associated.|ORDO|N|
C1868714|Eagle syndrome is characterized by recurrent pain in the middle part of the throat (oropharynx) and face. 'Classic Eagle syndrome' is typically seen in patients after throat trauma or tonsillectomy. Symptoms include dull and persistent throat pain that may radiate to the ear and worsen with rotation of the head. Other symptoms may include difficulty swallowing, feeling that there is something stuck in the throat, tinnitus, and neck or facial pain. A second form of Eagle syndrome unrelated to tonsillectomy causes compression of the vessel that carries blood to the brain, neck, and face (carotid artery). This form can cause headache. Eagle syndrome is due to a calcified stylohyoid ligament or an elongated styloid process. The styloid process is a pointed part of the temporal bone that serves as an anchor point for several muscles associated with the tongue and larynx. The mainstay treatment for Eagle syndrome is surgery to shorten the styloid process (styloidectomy). Medical management may include the use of pain and anti-inflammatory medications, antidepressants, and/or steroids. The overall success rate for treatment (medical or surgical) is about 80%.|MONDO|N|
C1868720|Nodules of heterotopia along the ventricular walls. There can be a single nodule or a large number of nodules, they can exist on either or both sides of the brain at any point along the higher ventricle margins, they can be small or large, single or multiple.|HPO|N|
C1868737|Underdevelopment of the vertebral artery.|HPO|N|
C1868773|A brain disease that is characterized by functional impairment of cognition, cerebral signal conduction, neurotransmission and synaptic plasticity, and underlying structural pathology associated with diabetes.|MONDO|N|
C1868822|The leakage of a substance from a fistula.|NCI|N|
C1868836|A wart-like lesion (papilloma, i.e., benign epithelial tumors that are caused by infection with the human papilloma virus) located on the trachea.|HPO|N|
C1868842|Movement of a lead away from the original implantation site. (ACC)|NCI|N|
C1868851|Pulmonary arterial hypertension associated with portal hypertension (PAH-PH) is a form of pulmonary arterial hypertension (PAH), characterized by an elevated pulmonary arterial resistance leading to right heart failure observed as a complication of portal hypertension.|ORDO|N|
C1868854|A partial or complete positional exchange between the penis and the scrotum, with positioning of the scrotum superior to the penis.|HPO|N|
C1868987|Presence of abnormally increased amounts of intraepidermal inflammatory cells with a predominance of eosinophils.|HPO|N|
C1868989|Early stage of HIV infection. Symptoms resemble INFLUENZA or INFECTIOUS MONONUCLEOSIS.|MSH|N|
C1869114|The autosomal recessive form of Weill-Marchesani syndrome is associated with Fibrillin gene mutations.|MSH|N|
C1869115|Weill-Marchesani syndrome (WMS) is a connective tissue disorder characterized by abnormalities of the lens of the eye, short stature, brachydactyly, joint stiffness, and cardiovascular defects. The ocular problems, typically recognized in childhood, include microspherophakia (small spherical lens), myopia secondary to the abnormal shape of the lens, ectopia lentis (abnormal position of the lens), and glaucoma, which can lead to blindness. Height of adult males is 142-169 cm; height of adult females is 130-157 cm. Autosomal recessive WMS cannot be distinguished from autosomal dominant WMS by clinical findings alone.|GeneReviews|N|
C1869116|Bronchial asthma is the most common chronic disease affecting children and young adults. It is a complex genetic disorder with a heterogeneous phenotype, largely attributed to the interactions among many genes and between these genes and the environment.
Asthma-related traits include clinical symptoms of asthma, such as coughing, wheezing, and dyspnea; bronchial hyperresponsiveness (BHR) as assessed by methacholine challenge test; serum IgE levels; atopy; and atopic dermatitis (Laitinen et al., 2001; Illig and Wjst, 2002; Pillai et al., 2006). See 147050 for information on the asthma-associated phenotype atopy.|OMIM|N|
C1869117|Familial paroxysmal nonkinesigenic dyskinesia (PNKD) is characterized by unilateral or bilateral involuntary movements. Attacks are typically precipitated by coffee, tea, or alcohol; they can also be triggered by excitement, stress, or fatigue, or can be spontaneous. Attacks involve dystonic posturing with choreic and ballistic movements, may be accompanied by a preceding aura, occur while the individual is awake, and are not associated with seizures. Attacks last minutes to hours and rarely occur more than once per day. Attack frequency, duration, severity, and combinations of symptoms vary within and among families. Age of onset is typically in childhood or early teens but can be as late as age 50 years.|GeneReviews|N|
C1869118|Signs and symptoms of congenital hypothyroidism result from the shortage of thyroid hormones. Affected babies may show no features of the condition, although some babies with congenital hypothyroidism are less active and sleep more than normal. They may have difficulty feeding and experience constipation. If untreated, congenital hypothyroidism can lead to intellectual disability and slow growth. In the United States and many other countries, all hospitals test newborns for congenital hypothyroidism. If treatment begins in the first two weeks after birth, infants usually develop normally.\n\nCongenital hypothyroidism occurs when the thyroid gland fails to develop or function properly. In 80 to 85 percent of cases, the thyroid gland is absent, severely reduced in size (hypoplastic), or abnormally located. These cases are classified as thyroid dysgenesis. In the remainder of cases, a normal-sized or enlarged thyroid gland (goiter) is present, but production of thyroid hormones is decreased or absent. Most of these cases occur when one of several steps in the hormone synthesis process is impaired; these cases are classified as thyroid dyshormonogenesis. Less commonly, reduction or absence of thyroid hormone production is caused by impaired stimulation of the production process (which is normally done by a structure at the base of the brain called the pituitary gland), even though the process itself is unimpaired. These cases are classified as central (or pituitary) hypothyroidism.\n\nCongenital hypothyroidism can also occur as part of syndromes that affect other organs and tissues in the body. These forms of the condition are described as syndromic. Some common forms of syndromic hypothyroidism include Pendred syndrome, Bamforth-Lazarus syndrome, and brain-lung-thyroid syndrome.\n\nCongenital hypothyroidism is a partial or complete loss of function of the thyroid gland (hypothyroidism) that affects infants from birth (congenital). The thyroid gland is a butterfly-shaped tissue in the lower neck. It makes iodine-containing hormones that play an important role in regulating growth, brain development, and the rate of chemical reactions in the body (metabolism). People with congenital hypothyroidism have lower-than-normal levels of these important hormones.|MedlinePlus Genetics|N|
C1869123|Calpainopathy is characterized by symmetric and progressive weakness of proximal limb-girdle muscles. The age at onset of muscle weakness ranges from two to 40 years. The phenotype shows intra- and interfamilial variability ranging from severe to mild. Three autosomal recessive calpainopathy phenotypes have been identified based on the distribution of muscle weakness and age at onset: Pelvifemoral limb-girdle muscular dystrophy (LGMD) (Leyden-Möbius LGMD) phenotype, the most frequently observed calpainopathy phenotype, in which muscle weakness is first evident in the pelvic girdle and later in the shoulder girdle, with onset that may occur as early as before age 12 years or as late as after age 30 years. Scapulohumeral LGMD (Erb LGMD) phenotype, usually a milder phenotype with infrequent early onset, in which muscle weakness is first evident in the shoulder girdle and later in the pelvic girdle. HyperCKemia, usually observed in children or young individuals, in which individuals are asymptomatic and have high serum creatine kinase (CK) concentrations. The autosomal dominant form of calpainopathy shows a variability of clinical phenotype, ranging from almost asymptomatic to wheelchair dependence after age 60 years in few cases with a generally milder phenotype than the recessive form. Clinical findings of calpainopathy include the tendency to walk on tiptoe, difficulty in running, scapular winging, waddling gait, and slight hyperlordosis. Other findings include symmetric weakness of proximal more than distal muscles in the limbs, trunk, and periscapular area; laxity of the abdominal muscles; Achilles tendon shortening; scoliosis; and joint contractures. Affected individuals typically do not have cardiac involvement or intellectual disability.|GeneReviews|N|
C1876161|The neuronal ceroid lipofuscinoses (NCL; CLN) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally. The clinical course includes progressive dementia, seizures, and progressive visual failure. The lipopigment pattern seen most often in CLN2 consists of 'curvilinear' profiles (Mole et al., 2005).
For a general phenotypic description and a discussion of genetic heterogeneity of CLN, see CLN1 (256730).|OMIM|N|
C1876175|A rare genetic persistent combined dystonia with characteristics of clinical signs similar to ataxia-telangiectasia but with a later (usually adulthood) onset and slower progression. Patients typically present with extrapyramidal signs, such as resting tremor, choreoathetosis and dystonia, as the initial symptoms and later often develop mild cerebellar ataxia (with gait usually preserved). Telangiectasia and immunodeficiency may be absent but secondary features of ataxia-telangiectasia, such as risk of malignancy, dysarthria and peripheral neuropathy, are frequently present.|SNOMEDCT_US|N|
C1876177|Restless legs syndrome (RLS) is a neurologic sleep/wake disorder characterized by uncomfortable and unpleasant sensations in the legs that appear at rest, usually at night, inducing an irresistible desire to move the legs. The disorder results in nocturnal insomnia and chronic sleep deprivation (Bonati et al., 2003).
Genetic Heterogeneity of Restless Legs Syndrome
RLS1 has been mapped to chromosome 12q. Other susceptibility loci for RLS include RLS2 (608831) on chromosome 14q13-q31; RLS3 (610438) on chromosome 9p24-p22; RLS4 (610439) on chromosome 2q33; RLS5 (611242) on chromosome 20p13; RLS6 (611185) on chromosome 6p21; RLS7 (612853) on chromosome 2p14; and RLS8 (615197) on chromosome 5q31.|OMIM|N|
C1876181|A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by the triad: congenital, bilateral, symmetrical, subtotal, external auditory canal atresia, bilateral vertical talus and increased interocular distance.|ORDO|N|
C1876182|Any congenital stationary night blindness in which the cause of the disease is a mutation in the PDE6B gene.|MONDO|N|
C1876184|A synostosis characterized by the fusion of carpal and tarsal bones, which causes stiffness and immobility of the hands and the feet.|MONDO|N|
C1876187|A rare autosomal recessive disorder characterized by the occurrence of cutaneous and subcutaneous calcified masses, usually adjacent to large joints, such as hips, shoulders and elbows. It can occur in the setting of hyperphosphatemia or normophosphatemia, depending on the type of gene mutation involved.|ORDO|N|
C1876203|The term frontonasal dysplasia was coined by Sedano et al. (1970) to describe a constellation of findings limited to the face and head. The disorder is defined as 2 or more of the following: (1) true ocular hypertelorism; (2) broadening of the nasal root; (3) median facial cleft affecting the nose and/or upper lip and palate; (4) unilateral or bilateral clefting of the alae nasi; (5) lack of formation of the nasal tip; (6) anterior cranium bifidum occultum (see 168500); and (7) a V-shaped or widow's peak frontal hairline (Sedano and Gorlin, 1988). Most reported cases are sporadic, but a few familial cases have been reported.
Twigg et al. (2009) characterized frontonasal malformation (FNM) as a 'very heterogeneous group of disorders' and summarized clinical features.
Also see acromelic frontonasal dysplasia (AFND; 603671), frontofacionasal dysplasia (FFND; 229400), oculoauriculofrontonasal syndrome (OAFNS; 601452), the acrofrontofacionasal dysostosis syndromes (201180, 239710), and craniofrontonasal syndrome (304110).
Genetic Heterogeneity of Frontonasal Dysplasia
Frontonasal dysplasia-2 (FND2; 613451) is caused by mutation in the ALX4 gene (605420) on chromosome 11p11. Frontonasal dysplasia-3 (FND3; 613456) is caused by mutation in the ALX1 gene (601527) on chromosome 12q21.|OMIM|N|
C1876218|All antiepileptic drugs are potential teratogens. Anticonvulsant treatment during pregnancy presents the challenge of balancing between optimal treatment for seizure control and possible harmful fetal effects. One of the best delineated examples of harmful fetal effects is the fetal valproate syndrome (FVS), comprising typical facial features, developmental delay, and a variety of malformations such as neural tube defects, cardiac and gastrourinary malformations, and limb defects (Winter et al., 1987; Ardinger et al., 1988; Clayton-Smith and Donnai, 1995).|OMIM|N|
C1879279|Nasal type extranodal NK/T-cell lymphoma that occurs in adulthood.|NCI|N|
C1879280|A nasal type extranodal NK/T-cell lymphoma occurring in childhood.|NCI|N|
C1879286|Progressive familial heart block type I (PFHBI, PFHB1) is an autosomal dominant cardiac bundle branch disorder that may progress to complete heart block (Brink and Torrington, 1977; van der Merwe et al., 1986; van der Merwe et al., 1988). It is defined on electrocardiogram by evidence of bundle branch disease, i.e., right bundle branch block, left anterior or posterior hemiblock, or complete heart block, with broad QRS complexes. Progression has been shown from a normal electrocardiogram to right bundle branch block and from the latter to complete heart block. These electrocardiographic features differentiate PFHB type I from progressive familial heart block type II (PFHBII, PFHB2; 140400), in which the onset of complete heart block is associated with narrow complexes. Electrocardiographically the changes represent, respectively, bundle branch disease (PFHB1) and atrioventricular nodal disease with an atrioventricular block and an idionodal escape rhythm (PFHB2). PFHBI is manifested symptomatically when complete heart block supervenes, either with dyspnea, syncopal episodes, or sudden death. Treatment, which is best managed by regular electrocardiographic follow-up, is by the timely implantation of a pacemaker (Brink et al., 1995).
Genetic Heterogeneity of Progressive Familial Heart Block Type I
Progressive familial heart block type IB (PFHB1B; 604559) is caused by mutation in the TRPM4 gene (606936) on chromosome 19q13.32.|OMIM|N|
C1879312|A congenital abnormality of the cerebral hemisphere characterized by lack of gyrations (convolutions) of the cerebral cortex. Agyria is defined as cortical regions lacking gyration with sulci great than 3 cm apart and cerebral cortex thicker than 5 mm.|HPO|N|
C1879314|A Sertoli-Leydig tumor of the ovary characterized by the presence of a sarcomatoid stroma which contains primitive gonadal stromal cells. It may behave in a malignant fashion and metastasize to other anatomic sites.|NCI|N|
C1879321|A rare, acute myeloid leukemia characterized by evidence of granulocytic maturation and more than 20% of blast cells in the bone marrow and/or peripheral blood. The maturing non-blast granulocytic cells account for greater than or equal to 10% and monocytic cells less than or equal to 20% of the bone marrow cells. Various degrees of anemia, thrombocytopenia, or pancytopenia are present. Frequent clinical manifestations include fatigue, fever, bleeding disorders, and organomegaly, especially hepatosplenomegaly.|ORDO|N|
C1879344|An intraductal papillary neoplasm that arises from the epithelium of the intrahepatic or extrahepatic bile ducts.|NCI|N|
C1879347|A basal cell carcinoma often presenting as elevated skin nodules which may become ulcerated or cystic. In cases which present as endophytic nodules, the overlying skin surface shows indurated flat lesions. It occurs most frequently on the head. Morphologically, the neoplastic basaloid cells form lobules with peripheral nuclear palisading.|NCI|N|
C1879351|Blockage of the normal flow of the small intestinal contents in the jejunum.|NCI|N|
C1879362|An increased concentration of tyrosine in the blood.|HPO|N|
C1879526|A larger than normal, microscopically elevated colonic crypt that may contain dysplastic epithelium. It is considered as a possible precursor of colonic adenoma and carcinoma.|NCI|N|
C1879527|A morphologic finding indicating the presence of thyroid tissue in an organ unrelated to thyroid gland.|NCI|N|
C1879591|A lung adenocarcinoma consisting of a bronchioloalveolar component and an invasive adenocarcinomatous component.|NCI|N|
C1879641|A rare low-grade carcinoma of the sweat glands. The most common sites are eyelids, scalp, axilla, face and trunk. It is histologically characterized by proliferating ducts until the overproduction of mucin creates islands of tumor cells, essentially floating in mucinous pools (Rosai J. Ackerman''s Surgical Pathology).|NCI|N|
C1879643|A low-grade malignant sex cord-stromal tumor occurring in the ovary and rarely in the testis. It is composed of granulosa cells in an often fibrothecomatous stroma. The neoplastic cells may form various patterns including the microfollicular, which is characterized by the presence of Call-Exner bodies, macrofollicular, insular, trabecular, and diffuse pattern. In females, it affects middle aged to post-menopausal women. Signs and symptoms include abdominal mass, hemoperitoneum, and ascites. Estrogenic and rarely androgenic manifestations may be present. The vast majority of cases present as stage I tumors; however, all tumors have a potential for aggressive clinical course. In males, it is reported in the age range of 16-76 years and the average age at presentation is 44 years. A minority of patients have gynecomastia. Metastases have been reported in a minority of patients.|NCI|N|
C1879644|A benign or malignant lesion arising during adulthood.|NCI|N|
C1879645|An adverse event as categorized by the Common Terminology Criteria for Adverse Events (CTCAE).|NCI|N|
C1879646|A part of the body showing particular characteristics.|NCI|N|
C1879675|The device fails to emit an audible alarm.|NCI|N|
C1879676|A device does not display an alarm message when required.|NCI|N|
C1879689|Problem associated with any undesired acoustic energy or vibration that tends to interfere with the operation of the device.|NCI|N|
C1879690|Problem associated with compromised device performance at the ambient temperature or the storage at an inappropriate ambient temperature.|NCI|N|
C1879691|A non-neoplastic, congenital or non-congenital disorder charcaterized by marked reduction or absence of megakaryocytes and thrombocytopenia.|NCI|N|
C1879705|Angina pectoris which leads an individual to seek medical attention.|NCI|N|
C1879718|A neoplasm with neuroendocrine differentiation that arises from the appendix. It includes neuroendocrine tumors (well-differentiated neuroendocrine neoplasms) and neuroendocrine carcinomas (poorly differentiated neuroendocrine neoplasms).|NCI|N|
C1879720|Problem associated with the requirement for software to fulfill its function within an intended use or application.|NCI|N|
C1879721|Problem associated with installing updates to a software system that affects a device performance or communication with another device.|NCI|N|
C1879730|Problem associated with electrical current flowing through a gap between two conductive surfaces, typically resulting in a visible flash of light.|NCI|N|
C1879731|Problem associated with electrical current flowing through a gap between electrodes (conductive surfaces), typically resulting in a visible flash of light.|NCI|N|
C1879732|Problem associated with electrical current flowing through a gap between paddles (conductive surfaces), typically resulting in a visible flash of light.|NCI|N|
C1879740|Problem associated with impurities or interference in a signal (e.g. ECG artifact).|NCI|N|
C1879751|Problem associated with a pacing transmission process such that between any two significant instants in the same group, there is always an integral number of unit intervals. Between two significant instants located in different groups, there are not always an integral number of unit intervals.|NCI|N|
C1879758|An invasive ductal breast carcinoma characterized by the presence of a predominantly syncytial architectural pattern. It may have some, but not all the strictly defined additional morphologic criteria which are necessary for the diagnosis of medullary breast carcinoma (presence of a diffuse lymphoplasmacytic infiltrate, neoplastic round cells with abundant cytoplasm and vesicular nuclei, complete histological circumscription, and absence of glandular or tubular structures). It does not have the relatively favorable outcome that characterizes medullary breast carcinoma.|NCI|N|
C1879778|Problem associated with undesired microbial contamination of the device.|NCI|N|
C1879790|A basal cell carcinoma of the skin that is characterized by adnexal differentiation.|NCI|N|
C1879809|A rare, unilateral, benign embryonal neoplasm typically presenting as a ciliary body mass during childhood. It arises from primitive medullary epithelium and contains heterologous elements, particularly cartilage, skeletal muscle, and brain tissue.|NCI|N|
C1879826|A Sertoli cell tumor of the testis or the ovary which remains localized and does not metastasize to another anatomic site.|NCI|N|
C1879828|A teratoma that contains only mature tissue elements (mature teratoma or grade 0 teratoma) or a limited amount of immature tissue elements (grade 1 teratoma).|NCI|N|
C1879843|Problem associated with undesirable local or systemic effects due to exposure to device materials or leachates from those materials by a patient who has an implant or is receiving treatment with a device made from them.|NCI|N|
C1879844|Problem associated with the undesired introduction of a biofilm coating into or onto the device.|NCI|N|
C1879853|A clinical finding about one or more characteristics of bladder cancer, following the rules of the TNM AJCC v6 classification system. TNM clinical findings are based on information obtained prior to the first definitive treatment through physical examination, diagnostic imaging, and biopsy.|NCI|N|
C1879854|A pathologic finding about one or more characteristics of bladder cancer, following the rules of the TNM AJCC v6 classification system as they pertain to distant metastases. TNM pathologic distant metastasis findings are based on clinical findings supplemented by histopathologic examination of one or more tissue specimens acquired during surgery.|NCI|N|
C1879859|Bladder cancer with no evidence of distant metastasis. (from AJCC 6th Ed.)|NCI|N|
C1879860|Bladder cancer with distant metastasis. (from AJCC 6th and 7th Eds.)|NCI|N|
C1879862|Bladder cancer in which there is no regional lymph node metastasis. (from AJCC 6th and 7th Eds.)|NCI|N|
C1879866|Bladder cancer in which the regional lymph nodes cannot be assessed. (from AJCC 6th and 7th Eds.)|NCI|N|
C1879867|Bladder cancer in which there is no evidence of a primary tumor. (from AJCC 6th and 7th Eds.)|NCI|N|
C1879868|Bladder cancer with tumor invading subepithelial connective tissue. (from AJCC 6th and 7th Eds.)|NCI|N|
C1879872|Bladder cancer with tumor invading the perivesical tissue. (from AJCC 6th and 7th Eds.)|NCI|N|
C1879873|Bladder cancer with microscopic invasion into the perivesical tissue. (from AJCC 6th and 7th Eds.)|NCI|N|
C1879874|Bladder cancer with tumor macroscopically invading the perivesical tissue (extravesical mass). (from AJCC 6th and 7th Eds.)|NCI|N|
C1879877|Bladder cancer with tumor invading pelvic wall, abdominal wall. (from AJCC 6th and 7th Eds.)|NCI|N|
C1879878|Bladder cancer in which the primary tumor cannot be assessed. (from AJCC 6th and 7th Eds.)|NCI|N|
C1879879|Bladder cancer with a finding of noninvasive papillary carcinoma. (from AJCC 6th and 7th Eds.)|NCI|N|
C1879880|Bladder cancer with a finding of carcinoma in situ: ''flat tumor''. (from AJCC 6th and 7th Eds.)|NCI|N|
C1879885|Continuous flow of fluid (e.g. liquid, gas) against the intended flow direction.|NCI|N|
C1879887|Problem related to an obstruction or blockage within the device component (e.g. tube, opening, pipe) that results in a reduction of the flow rate.|NCI|N|
C1879888|Problem associated with linking of a device whereby their functional units set up to provide means for a transfer of fluid, gas, or data is prevented or impeded.|NCI|N|
C1879898|A benign melanocytic nevus that arises from the breast skin.|NCI|N|
C1879899|A benign, well circumscribed neoplasm that arises from the breast. It is composed entirely of tubular structures that contain epithelial and myoepithelial cells.|NCI|N|
C1879901|Problem associated with an undesired bulge, bend, bow, kink, or wavy condition observed in the device material resulting from compressive stresses.|NCI|N|
C1879905|Problems associated with a discoloration or destruction as a result of thermal decomposition of the device.|NCI|N|
C1879982|Problem associated with buildup of calcium salts on a device.|NCI|N|
C1879994|Problem associated with the transfer of energy within an electrical network by means of the capacitance between circuit nodes. It occurs when energy is coupled from one circuit to another through an electric field.|NCI|N|
C1879997|Problem associated with the inability of the device to achieve successful depolarization and contraction of a cardiac chamber caused by a pacemaker output pulse.|NCI|N|
C1880017|A malignant tumor arising in the epithelial cells of the brain or spinal cord.|NCI|N|
C1880023|Problem associated with the premature ending of the charging process (e.g. of a battery or other charge storage device).|NCI|N|
C1880024|Problem associated with an unexpected amount of time required to charge the device (e.g. a delay in starting charging or a longer than expected charge time).|NCI|N|
C1880068|A benign or malignant lesion arising during childhood.|NCI|N|
C1880078|An immunophenotypic test result indicating positive staining of neoplastic cells for chromogranin A.|NCI|N|
C1880087|Problem associated with a failure of the internal network paths or electrical circuitry (i.e. electrical components, circuit boards, wiring).|NCI|N|
C1880099|Problem associated with the presence of any unexpected foreign substance found in a device, on its surface or in the package materials, which may affect performance or intended use of the device, or problem that compromise effective decontamination of the device.|NCI|N|
C1880101|A malignant neoplasm characterized by the presence of atypical cells with clear cytoplasm.|NCI|N|
C1880102|A benign cystic glandular epithelial neoplasm characterized by the presence of neoplastic clear or hobnail cells which form papillary structures. There is no evidence of stromal invasion.|NCI|N|
C1880112|Problem associated with the aggregation of particles into irregular masses.|NCI|N|
C1880113|Problem associated with the undesired characterization of congealing, solidifying, thickening, curdling.|NCI|N|
C1880119|A rare, invasive colon adenocarcinoma characterized by the presence of sheets of malignant epithelial cells with vesicular nuclei, prominent nucleoli, and abundant eosinophilic cytoplasm. It usually has a favorable prognosis.|NCI|N|
C1880123|A pathologic finding about one or more characteristics of colorectal cancer, following the rules of the TNM AJCC v6 classification system as they pertain to distant metastases.|NCI|N|
C1880124|A pathologic finding about one or more characteristics of colorectal cancer, following the rules of the TNM AJCC v6 classification system as they pertain to staging of the primary tumor.|NCI|N|
C1880125|A pathologic finding about one or more characteristics of colorectal cancer, following the rules of the TNM AJCC v6 classification system as they pertain to staging of regional lymph nodes.|NCI|N|
C1880128|Colorectal cancer with no evidence of distant metastasis. (from AJCC 6th Ed.)|NCI|N|
C1880129|Colorectal cancer with distant metastasis. (from AJCC 6th and 7th Eds.)|NCI|N|
C1880130|Colorectal cancer in which distant metastases cannot be assessed. (from AJCC 6th Ed.)|NCI|N|
C1880131|Colorectal cancer without regional lymph node metastasis. (from AJCC 6th and 7th Eds.)|NCI|N|
C1880132|Colorectal cancer with metastasis in 1-3 regional lymph nodes. (from AJCC 6th Ed.)|NCI|N|
C1880133|Colorectal cancer with metastasis in four or more regional lymph nodes. (from AJCC 6th Ed.)|NCI|N|
C1880134|Colorectal cancer in which the regional lymph nodes cannot be assessed. (from AJCC 6th and 7th Eds.)|NCI|N|
C1880135|Colorectal cancer with no evidence of primary tumor. (from AJCC 6th and 7th Eds.)|NCI|N|
C1880136|Colorectal cancer with invasion into the submucosa. (from AJCC 6th and 7th Eds.)|NCI|N|
C1880137|Colorectal cancer with invasion into the muscularis propria. (from AJCC 6th and 7th Eds.)|NCI|N|
C1880138|Colorectal cancer with invasion through the muscularis propria into the submucosa, or into non-peritonealized pericolic or perirectal soft tissues. (from AJCC 6th Ed.)|NCI|N|
C1880139|Colorectal cancer with invasion through the muscularis propria into the submucosa, or into non-peritonealized pericolic or perirectal soft tissues, with tumor extension of 5 mm or less beyond the border of the muscularis propria. (from CAP Colorectal Cancer Protocol-January 2005 Revision)|NCI|N|
C1880140|Colorectal cancer with invasion through the muscularis propria into the submucosa, or into non-peritonealized pericolic or perirectal soft tissues, with tumor extension of more than 5 mm beyond the border of the muscularis propria. (from CAP Colorectal Cancer Protocol-January 2005 Revision)|NCI|N|
C1880141|Colorectal cancer with direct invasion of adjacent organs or structures and/or perforation of the visceral peritoneum. Direct invasion in T4 includes invasion of other segments of the colorectum by way of the serosa. Invasion of the sigmoid colon by a carcinoma of the cecum, for example, should be classified as T4. Tumor that is adherent to other organs or structures macroscopically is classified as T4. However, if on microscopic examination, no tumor is present in the adhesion, the classification should be pT3. V and L substaging should be used to indicate the presence or absence of vascular or lymphatic invasion. (from AJCC 6th Ed.)|NCI|N|
C1880142|Colorectal cancer in which the primary tumor cannot be assessed. (from AJCC 6th and 7th Eds.)|NCI|N|
C1880143|Colorectal cancer in situ in which cancer cells are confined within the glandular basement membrane (intraepithelial). (from CAP Colorectal Cancer Protocol-January 2005 Revision)|NCI|N|
C1880144|Colorectal cancer in situ involving the lamina propria (intramucosal) without extension through the muscularis mucosa into the submucosa. (from CAP Colorectal Cancer Protocol-January 2005 Revision)|NCI|N|
C1880145|Colorectal cancer in situ with cancer cells confined within the glandular basement membrane (intraepithelial) or within the lamina propria (intramucosal) without extension through the muscularis mucosa into the submucosa. (from AJCC 6th Ed.)|NCI|N|
C1880148|Problem associated with a device sending or receiving signals or data. This includes transmission among internal components of the device to which the device is intended to communicate.|NCI|N|
C1880160|Problem associated with software, firmware, and/or hardware elements that control the execution of computer programs and provides such services as computer resource allocation, job control, input/output control, and file management in a computer system.|NCI|N|
C1880162|Issue associated with written programs, codes, and/or software system that affects device performance or communication with another device.|NCI|N|
C1880164|Problem associated with unauthorized access to or modification of a software system resulting in a loss of confidentiality, integrity, or availability of written program code, application software, or data or entire device.|NCI|N|
C1880166|Problem associated with users being unclear and not able to follow any written, printed, or graphic matter that is affixed to device or its packaging with any matter that accompanies a medical device including verbal instructions related to identification, technical description and use of the device provided by a medical device manufacturer that vary from the standard of medical care in a given environment.|NCI|N|
C1880167|Inherited disorders involving abnormalities of red blood cell function, structure, or production. Some diseases in this group may be associated with bone marrow failure, neutropenia, and/or thrombocytopenia.|NCI|N|
C1880168|A group of rare inherited platelet disorders that involve abnormalities of platelet function or platelet production and that usually cause moderate to severe bleeding problems.|NCI|N|
C1880175|Problem associated with the undesired introduction of impurities either chemical or microbiological in nature, or of foreign matter into or onto the device ingredient or reagent.|NCI|N|
C1880176|Problem associated with the excessive production of electrical impulses over a period.|NCI|N|
C1880180|The act of producing a chemical structure with a high molecular weight that is comprised of two or more monomer subunits. The two monomers can be of the same or different composition and polymerize simultaneously. Several different classes and types of copolymers exist.|NCI|N|
C1880183|Problem associated with the chemical or electrochemical reaction between materials, usually a metal and its environment that produces a deterioration of the metal and its properties.|NCI|N|
C1880189|A distinctive Crohn''s disease-like reaction (CLR) consisting of discrete lymphoid aggregates, some with germinal centers, and surrounding stellate fibrosis commonly found around colorectal adenocarcinomas in the absence of clinical or pathologic evidence of prior Crohn''s disease.|NCI|N|
C1880190|Problem associated with the degree to which an antibody or antigen participates in cross reactions.|NCI|N|
C1880200|Indicates a person who has smoked at least 100 cigarettes in his or her lifetime, who smokes now, but does not smoke every day.|NCI|N|
C1880246|Problem associated with an access that was not permitted to the computer system that may lead to modification of program, corruption of data, or and break in network security. This concept is closely associated with computer integrity which is the degree to which a system or component prevents unauthorized access to, or modification of, computer programs or data.|NCI|N|
C1880250|Problems relating to a system, component, file, procedure, or person available to replace or help restore a primary item in the event of a failure or externally caused disaster.|NCI|N|
C1880251|Event in which data is unintentionally permanently or temporarily lost, deleted, corrupted, or overwritten.|NCI|N|
C1880258|Problem associated with the device being unassociated in such a way that fluid, gas, power or signal information may not be transferred from one device to another.|NCI|N|
C1880259|Unintended decrease in pressure, compromising a medical device''s intended function.|NCI|N|
C1880260|Problem associated with the removal of fluid or gas from a body cavity due to decreased suction.|NCI|N|
C1880262|Unintended decrease in pump speed and subsequent flow rate, compromising the intended function of a medical device.|NCI|N|
C1880263|Expansion of a malignant cellular infiltrate far downward into the soft tissues.|NCI|N|
C1880264|The device alarm does not operate as expected and/or in agreement with device''s specifications.|NCI|N|
C1880265|Problem associated with having flaws or dimensional deviations greater than acceptable for the intended use of the device.|NCI|N|
C1880267|Problem associated with the inability of the device to release its contents.|NCI|N|
C1880268|Problem associated with an undesired material change in shape or property caused by external forces.|NCI|N|
C1880272|A device alarm system operates with delay.|NCI|N|
C1880277|A morphologic finding indicating the presence of a dense, collagenous stroma associated with a cellular infiltrate in a tissue sample.|NCI|N|
C1880278|Problem associated with a undesired change in shape, characterized by the presence of a slight hollow (dent) in the device surface.|NCI|N|
C1880286|Problem associated with users experiencing difficulty or delay to position the device to a specified location.|NCI|N|
C1880290|Problem associated with the separation of the device from its physical construct, integrity, or chassis.|NCI|N|
C1880292|Problem associated with the failure of the device which is unable to regain a standard level of accuracy when performing a calibration procedure or process designed to assure the accuracy and proper performance of the device.|NCI|N|
C1880295|Problem associated with the device feature that are designed to respond to a physical stimulus (temperature, illumination, motion, cardiac rhythms) and that do not transmit a resulting signal for interpretation or measurement.|NCI|N|
C1880313|Problem associated with difficulty moving the device to an intended location (e.g. difficulty in advancing guide wire).|NCI|N|
C1880314|Problem associated with the use of the device in terms of the user experiencing difficulty to close or to spread out/extend length of the device, even if the operation is being performed according to labeled instructions for use.|NCI|N|
C1880315|Problem associated with problems introducing or inserting the device, even if the user is operating the device in accordance with the instructions for use or labeling.|NCI|N|
C1880316|Problem associated with difficulty of a transponder system to trigger a response.|NCI|N|
C1880317|Problem associated with difficulty for users to operate the device, specifically as it relates to the opening or removal of the outer wrapping.|NCI|N|
C1880319|The device that is difficult to program, calibrate or set to desired state, even by appropriately trained user/operator.|NCI|N|
C1880320|Problem associated with the use of the device in terms of user experiencing difficulty to take out or get rid of the device, even if the user is operating device in accordance with the instructions for use or labeling.|NCI|N|
C1880326|A morphologic finding indicating the presence of dilated terminal duct lobular units in a breast tissue sample.|NCI|N|
C1880353|Problem associated with an undesired streak, pattern and/or a noticeable change in color from the rest of the materials used in the device construction.|NCI|N|
C1880354|Problem associated with the linking of the device having a sufficient open space to prevent gas, liquid or electrical current flow between connectors.|NCI|N|
C1880357|Problem associated with material breaking into small pieces.|NCI|N|
C1880361|Problem associated with legibility of the device display, compromising for instance, the reading/interpretation of patient parameters or test results. Legibility problems can be due to color, size of font, display screen contrast or other factors.|NCI|N|
C1880386|The answer is not known by the person answering.|NCI|N|
C1880398|Problem associated with the written program code or application software used by a device to calculate specific measurements or quantities managed by the device.|NCI|N|
C1880424|Breast ductal carcinoma in situ in which the tumor cells fill the ductal spaces as solid sheets.|NCI|N|
C1880427|Problem associated with a device not being as sharp as intended or expected.|NCI|N|
C1880434|An electrocardiographic finding of initial slurring (delta wave) of the QRS complex due to the presence of an accessory pathway. This characteristic ECG pattern is typically seen in Wolff-Parkinson-White syndrome. (CDISC)|NCI|N|
C1880444|The maximum elevation of the ST segment, obtained from a set of measurements of the elevation of the ST segment.|NCI|N|
C1880458|The average elevation of the ST segment, obtained from a set of measurements of the elevation of the ST segment.|NCI|N|
C1880471|The minimum elevation of the ST segment, obtained from a set of measurements of the elevation of the ST segment.|NCI|N|
C1880480|An electrocardiographic finding of a regular atrial rhythm with atrial rate of less than 101 beats per minute which does not originate in the sinus node, and which is characterized by P waves whose morphology differs from the P wave morphology during sinus rhythm. (CDISC)|NCI|N|
C1880484|Problem associated with electrical activity of the device that exceeded the specified threshold limit of the internal integrated circuitry.|NCI|N|
C1880485|Problem associated with the quality of the facility-supplied power to the device.|NCI|N|
C1880486|Problem associated with an electric current travelling along an accidental path (unintended path) in a circuit.|NCI|N|
C1880487|Problem associated with the discharge of electricity between two bodies previously electrically charged.|NCI|N|
C1880488|Problem associated with the ability of a system to function in its electromagnetic environment without introducing intolerable disturbances to anything in its environment.|NCI|N|
C1880489|Problem associated with a measure of electromagnetic radiation from equipment.|NCI|N|
C1880494|Problem associated with the failure of the facility''s emergency power backup system(s) including generators and/or interruptible power systems (UPS).|NCI|N|
C1880518|Problem associated with the surrounding conditions in which the device is being used such as temperature, noise, lighting, ventilation, or other external factors such as power supply.|NCI|N|
C1880549|Problem associated with a progressive loss of a material from a solid surface.|NCI|N|
C1880550|A device that does not consistently display the same message, result, reading, or image. e.g. the display might flicker, switch between readings or messages, or go completely blank for brief periods of time.|NCI|N|
C1880552|Problem associated with providing incorrect display information.|NCI|N|
C1880612|Problem associated with the device producing temperatures that are lower than specified.|NCI|N|
C1880616|A pathologic finding about one or more characteristics of exocrine pancreatic cancer, following the rules of the TNM AJCC v6 classification system as they pertain to distant metastases.|NCI|N|
C1880617|A pathologic finding about one or more characteristics of exocrine pancreatic cancer, following the rules of the TNM AJCC v6 classification system as they pertain to staging of the primary tumor.|NCI|N|
C1880618|A pathologic finding about one or more characteristics of exocrine pancreatic cancer, following the rules of the TNM AJCC v6 classification system as they pertain to staging of regional lymph nodes.|NCI|N|
C1880621|Exocrine pancreatic cancer with no evidence of distant metastasis. (from AJCC 6th Ed.)|NCI|N|
C1880622|Exocrine pancreatic cancer with distant metastasis. (from AJCC 6th Ed.)|NCI|N|
C1880623|Exocrine pancreatic cancer in which distant metastasis cannot be assessed. (from AJCC 6th Ed.)|NCI|N|
C1880624|Exocrine pancreatic cancer with no evidence of regional lymph node metastasis. (from AJCC 6th Ed.)|NCI|N|
C1880625|Exocrine pancreatic cancer with regional lymph node metastasis. (from AJCC 6th Ed.)|NCI|N|
C1880626|Exocrine pancreatic cancer with metastasis to a single regional lymph node. (from CAP Cancer of the Endocrine Pancreas Protocol- January 2005 Revision)|NCI|N|
C1880627|Exocrine pancreatic cancer with metastasis to more than one regional lymph node. (from CAP Cancer of the Endocrine Pancreas Protocol- January 2005 Revision)|NCI|N|
C1880628|Exocrine pancreatic cancer in which the regional lymph nodes cannot be assessed. (from AJCC 6th Ed.)|NCI|N|
C1880629|Exocrine pancreatic cancer with no evidence of a primary tumor. (from AJCC 6th Ed.)|NCI|N|
C1880630|Exocrine pancreatic cancer with tumor confined to the pancreas and 2 cm or less in greatest dimension. (from AJCC 6th Ed.)|NCI|N|
C1880631|Exocrine pancreatic cancer with tumor confined to the pancreas but more than 2 cm in greatest dimension. (from AJCC 6th Ed.)|NCI|N|
C1880632|Exocrine pancreatic cancer extending beyond the pancreas, but without involvement of the celiac axis or superior mesenteric artery. (from AJCC 6th Ed.)|NCI|N|
C1880633|Exocrine pancreatic cancer extending beyond the pancreas, involving the celiac axis or superior mesenteric artery and therefore unresectable. (from AJCC 6th Ed.)|NCI|N|
C1880634|Exocrine pancreatic cancer in which the primary tumor cannot be assessed. (from AJCC 6th Ed.)|NCI|N|
C1880635|Exocrine pancreatic cancer with a finding of carcinoma in situ, also known as grade III pancreatic intraepithelial neoplasia (PanIn III). (from AJCC 6th Ed.)|NCI|N|
C1880644|A small aggregate of cells found in adipose tissues, particularly those attached to the colon where the architectural details of the lymph node cannot be identified with certainty under the microscope. It may represent a lymph node completely replaced by metastatic cancer.|NCI|N|
C1880671|Problem associated with failure to move the device to an intended location.|NCI|N|
C1880672|Problem associated with a circuit, equipment, or system whereby its functions fail to be properly synchronized or its relative positions properly oriented.|NCI|N|
C1880673|Problem with the device not analyzing a signal.|NCI|N|
C1880674|Problem associated with the inability to backup or to retrieve a backed up version (corrupted file) of device data or system files.|NCI|N|
C1880675|Problem associated with lack or loss of adherence between materials intended to be joined together by an adhesive.|NCI|N|
C1880676|Problem associated with inability to initiate the appropriate charging process (e.g. of a battery or other charge storage device).|NCI|N|
C1880678|Problem associated with the inability of the device to allow a current of electricity to pass or to conduct electricity continuously along an electrical path.|NCI|N|
C1880679|Failure of the device therapy or set of therapies to terminate the harmful cardiac rhythm that the therapy is meant to terminate.|NCI|N|
C1880680|Problem associated with a failure to transition from a primary system, component, file, procedure to a backup in response to a failure in the primary item.|NCI|N|
C1880681|Inability of the device to make an incision, pierce or open as intended.|NCI|N|
C1880682|Problem associated with the device failing to complete a series of processes or events.|NCI|N|
C1880684|Problem associated with the failure of the device to deliver electrical energy intended to change an electrical rhythm.|NCI|N|
C1880685|Problem associated with the failure of the device to deliver any energy.|NCI|N|
C1880686|Problem associated with the inability of the medical device to be positioned in a specified location.|NCI|N|
C1880687|Problem associated with the failure of a battery or other charge storage device to appropriately discharge as intended. Does not apply to defibrillation.|NCI|N|
C1880688|Problem associated with the linking of the device whereby termination of the transfer of liquid, gas, electricity, or information cannot be accomplished, or linking components do not come apart, or disconnect, when expected.|NCI|N|
C1880689|Failure to properly disinfect the device during reprocessing.|NCI|N|
C1880691|Problem associated with failure of the device to discharge its load (e.g. surgical stapler failed to partially or completely deploy its staples).|NCI|N|
C1880692|Flushing process was not executed properly.|NCI|N|
C1880693|Problem associated with an undesired material change in the physical property of the device which is characterized by failure to fold.|NCI|N|
C1880694|Problem associated with the device failing to connect tissue with a stapling device due to the staples not forming correctly.|NCI|N|
C1880695|Failure (=complete nonperformance) with regard to the intended function of infusion.|NCI|N|
C1880696|Problem associated with the device failure to appropriately respond to signals from a system designed to interrogate its status.|NCI|N|
C1880697|The device does not collect or transfer the sample as intended.|NCI|N|
C1880698|Problem associated with the failure to see direct anchorage of an implant by the formation of bony tissue around the implant without the growth of fibrous tissue at the bone-implant interface.|NCI|N|
C1880700|Problem associated with the inability of the device to generate a therapeutic simulated heart beat via electrical impulses.|NCI|N|
C1880702|Problem associated with the device failing to begin the priming process (i.e. the process of preparation of device for the delivery of fluids).|NCI|N|
C1880704|Problem associated with the device which fails to start pumping.|NCI|N|
C1880705|Problem associated with a failure of the device to read a signal for interpretation or measurement.|NCI|N|
C1880706|Enzymatic cleaner was not removed properly from the device.|NCI|N|
C1880708|Problem associated with the failure of the device to select the appropriate input signal.|NCI|N|
C1880709|Problem associated with the failure of the device designed to respond to a physical stimulus (as temperature, illumination, motion) to transmit a resulting signal for interpretation or measurement.|NCI|N|
C1880710|Problem associated with the device or one of its components failing to detach or separate as intended.|NCI|N|
C1880711|Problem associated with the inability of the device to provide an appropriate or successful electrical shock.|NCI|N|
C1880712|Failure of the device to generate a correctly-shaped pacing output, e.g., a waveform that is too wide.|NCI|N|
C1880713|Device was not sterilized properly during reprocessing.|NCI|N|
C1880714|Problem associated with a failure of the device to transmit a record for interpretation or measurement.|NCI|N|
C1880718|Problem associated with the device providing incorrect alarm warning or alert to user.|NCI|N|
C1880722|Problem associated with the device incorrectly reporting that something has not been detected and may mislead the operator into not taking certain actions when action should be taken.|NCI|N|
C1880724|Problem associated with the device incorrectly reporting that something has been detected and may mislead the operator to take certain actions.|NCI|N|
C1880743|A finding about one or more characteristics of female reproductive system cancer, following the rules of the TNM AJCC v6 classification system.|NCI|N|
C1880773|Problem associated with the method or amount of time associated with the delivery of a fluid. Time to delivery or amount of delivered entity may be affected.|NCI|N|
C1880775|Problem associated with the combustion of the device with a steady flame.|NCI|N|
C1880777|The beginning of the first experience of the symptom complex of angina pectoris.|NCI|N|
C1880778|The beginning of the first occurrence of heart failure.|NCI|N|
C1880781|Problem associated with the connection of the device whereby channels, switching systems, and other functional units set up to provide means for a transfer of liquid, gas, electricity, or information do not match or fit.|NCI|N|
C1880783|Problem associated with the detachment of small pieces of the coating film of a material.|NCI|N|
C1880785|Problem associated with the device-related burn with an unsteady flame.|NCI|N|
C1880790|A benign nevus occurring in the flexural skin.|NCI|N|
C1880801|Problem associated with the amount of gas that is inspired and expired during one respiratory cycle.|NCI|N|
C1880832|Problem associated with the visibility of water vapor in the immediate atmosphere in which the device is being used.|NCI|N|
C1880838|Problem associated with contamination of a device with a chemical substance or other non biologic material.|NCI|N|
C1880851|Problem associated with a partial or full-thickness crack in the device materials.|NCI|N|
C1880852|Problem associated with the comprising materials having damaged edges.|NCI|N|
C1880853|Problem associated with uncontrolled flow of infusion of air, gas or fluids.|NCI|N|
C1880864|Problem associated with the visibility, odor, or toxicity of an ambient vapor or gas.|NCI|N|
C1880868|Problem associated with the visibility of molds, mildews, yeasts, and/or mushrooms in the immediate environment in which the device is being used.|NCI|N|
C1880884|A clinical finding about one or more characteristics of gallbladder cancer, following the rules of the TNM AJCC v6 classification system.|NCI|N|
C1880885|A pathologic finding about one or more characteristics of gallbladder cancer, following the rules of the TNM AJCC v6 classification system as they pertain to distant metastases.|NCI|N|
C1880886|A pathologic finding about one or more characteristics of gallbladder cancer, following the rules of the TNM AJCC v6 classification system as they pertain to staging of the primary tumor.|NCI|N|
C1880887|A pathologic finding about one or more characteristics of gallbladder cancer, following the rules of the TNM AJCC v6 classification system as they pertain to staging of regional lymph nodes.|NCI|N|
C1880888|A pathologic finding about one or more characteristics of gallbladder cancer, following the rules of the TNM AJCC v6 classification system.|NCI|N|
C1880889|A finding about one or more characteristics of primary gallbladder cancer, following the rules of the TNM AJCC v6 classification system.|NCI|N|
C1880890|Gallbladder cancer with no evidence of distant metastasis. (from AJCC 6th Ed.)|NCI|N|
C1880891|Gallbladder cancer with distant metastasis. (from AJCC 6th and 7th Eds.)|NCI|N|
C1880892|Gallbladder cancer in which distant metastasis cannot be assessed. (from AJCC 6th Ed.)|NCI|N|
C1880893|Gallbladder cancer with no regional lymph node metastasis. (from AJCC 6th and 7th Eds.)|NCI|N|
C1880894|Gallbladder cancer with regional lymph node metastasis. (from AJCC 6th Ed.)|NCI|N|
C1880895|Gallbladder cancer in which the regional lymph nodes cannot be assessed. (from AJCC 6th and 7th Eds.)|NCI|N|
C1880896|Gallbladder cancer with no evidence of a primary tumor. (from AJCC 6th and 7th Eds.)|NCI|N|
C1880897|Gallbladder cancer with tumor invading the lamina propria or muscle layer. (from AJCC 6th and 7th Eds.)|NCI|N|
C1880898|Gallbladder cancer with tumor invading the lamina propria. (from AJCC 6th and 7th Eds.)|NCI|N|
C1880899|Gallbladder cancer with tumor invading the muscle layer. (from AJCC 6th and 7th Eds.)|NCI|N|
C1880900|Gallbladder cancer with tumor invading the perimuscular connective tissue and with no extension beyond the serosa or into the liver. (from AJCC 6th and 7th Eds.)|NCI|N|
C1880901|Gallbladder cancer with tumor perforating the serosa (visceral peritoneum) and/or directly invading the liver and/or one other adjacent organ or structure, such as the stomach, duodenum, colon, pancreas, omentum, or extrahepatic bile ducts. (from AJCC 6th and 7th Eds.)|NCI|N|
C1880902|Gallbladder cancer with tumor invading the main portal vein or hepatic artery, or invading two or more extrahepatic organs or structures. (from AJCC 6th and 7th Eds.)|NCI|N|
C1880903|Gallbladder cancer with a finding of carcinoma in situ. (from AJCC 6th and 7th Eds.)|NCI|N|
C1880907|A clinical finding about one or more characteristics of gastric cancer, following the rules of the TNM AJCC v6 classification system.|NCI|N|
C1880908|A pathologic finding about one or more characteristics of gastric cancer, following the rules of the TNM AJCC v6 classification system as they pertain to distant metastases.|NCI|N|
C1880909|A pathologic finding about one or more characteristics of gastric cancer, following the rules of the TNM AJCC v6 classification system as they pertain to staging of the primary tumor.|NCI|N|
C1880910|A pathologic finding about one or more characteristics of gastric cancer, following the rules of the TNM AJCC v6 classification system as they pertain to staging of regional lymph nodes.|NCI|N|
C1880911|A pathologic finding about one or more characteristics of gastric cancer, following the rules of the TNM AJCC v6 classification system.|NCI|N|
C1880912|A finding about one or more characteristics of gastric cancer, following the rules of the TNM AJCC v6 classification system.|NCI|N|
C1880913|Gastric cancer with no evidence of distant metastasis. (from AJCC 6th Ed.)|NCI|N|
C1880914|Gastric cancer with distant metastasis. (from AJCC 6th and 7th Eds.)|NCI|N|
C1880915|Gastric cancer in which distant metastasis cannot be assessed. (from AJCC 6th Ed.)|NCI|N|
C1880916|Gastric cancer with no evidence of metastasis to regional lymph nodes. (from AJCC 6th Ed.)|NCI|N|
C1880917|Gastric cancer with evidence of metastasis in 1-6 regional lymph nodes. (from AJCC 6th Ed.)|NCI|N|
C1880918|Gastric cancer with evidence of metastasis in 7-15 regional lymph nodes. (from AJCC 6th Ed.)|NCI|N|
C1880919|Gastric cancer with evidence of metastasis in more than 15 regional lymph nodes. (from AJCC 6th Ed.)|NCI|N|
C1880920|Gastric cancer in which the regional lymph nodes cannot be assessed. (from AJCC 6th and 7th Eds.)|NCI|N|
C1880921|Gastric cancer with no evidence of a primary tumor. (from AJCC 6th and 7th Eds.)|NCI|N|
C1880922|Gastric cancer with tumor invading the lamina propria or submucosa. (from AJCC 6th Ed.)|NCI|N|
C1880923|Gastric cancer with tumor invading the muscularis propria or subserosa. A tumor may penetrate the muscularis propria with extension into the gastrocolic or gastrohepatic ligaments, or into the greater or lesser omentum, without perforation of the visceral peritoneum covering these structures. In this case, the tumor is classified T2. If there is perforation of the visceral peritoneum covering the gastric ligaments or the omentum, the tumor should be classified T3. (from AJCC 6th Ed.)|NCI|N|
C1880924|Gastric cancer with tumor invading the muscularis propria. (from AJCC 6th Ed.)|NCI|N|
C1880925|Gastric cancer with tumor invading the subserosa. (from AJCC 6th Ed.)|NCI|N|
C1880926|Gastric cancer with tumor penetrating the serosa (visceral peritoneum) without invasion into adjacent structures of the stomach. (from AJCC 6th Ed.)|NCI|N|
C1880927|Gastric cancer with tumor invading into adjacent structures of the stomach which include the spleen, transverse colon, liver, diaphragm, pancreas, abdominal wall, adrenal gland, kidney, small intestine, and retroperitoneum. Intramural extension into the esophagus or duodenum is classified by the depth of the greatest invasion in any of these sites, including the stomach. (from AJCC 6th Ed.)|NCI|N|
C1880928|Gastric cancer in which the primary tumor cannot be assessed. (from AJCC 6th and 7th Eds.)|NCI|N|
C1880929|Gastric cancer in situ with cancer cells confined within the glandular basement membrane (intraepithelial) and without invasion into the lamina propria. (from AJCC 6th and 7th Eds.)|NCI|N|
C1880932|An adverse event marked by rupture in the wall of a structure of the gastrointestinal system.|NCI|N|
C1880933|A finding about one or more characteristics of digestive system cancer, following the rules of the TNM AJCC v6 classification system.|NCI|N|
C1880936|Escape (release, discharge) of gel through an unintended location - as in leakage of ultrasound gel. Escape or release of gel from containment structures - as in gel filled implant leak.|NCI|N|
C1880950|A finding about one or more characteristics of genitourinary system cancer, following the rules of the TNM AJCC v6 classification system.|NCI|N|
C1880961|A pathologic finding about one or more characteristics of glottic cancer, following the rules of the TNM classification system as they pertain to distant metastases.|NCI|N|
C1880962|A pathologic finding about one or more characteristics of glottic cancer, following the rules of the TNM AJCC v6 classification system as they pertain to staging of the primary tumor.|NCI|N|
C1880963|A pathologic finding about one or more characteristics of glottic cancer, following the rules of the TNM classification system as they pertain to staging of regional lymph nodes.|NCI|N|
C1880964|A pathologic finding about one or more characteristics of glottic cancer, following the rules of the TNM AJCC v6 classification system.|NCI|N|
C1880965|A finding about one or more characteristics of glottic cancer, following the rules of the TNM AJCC v6 classification system.|NCI|N|
C1880966|Glottic cancer with no distant metastasis. (from AJCC 6th Ed.)|NCI|N|
C1880967|Glottic cancer with distant metastasis. (from AJCC 6th and 7th Eds.)|NCI|N|
C1880968|Glottic cancer in which distant metastasis cannot be assessed. (from AJCC 6th Ed.)|NCI|N|
C1880969|Glottic cancer with no metastasis to regional lymph nodes. (from AJCC 6th and 7th Eds.)|NCI|N|
C1880970|Glottic cancer with metastasis to a single ipsilateral lymph node, 3 cm or less in greatest dimension. (from AJCC 6th and 7th Eds.)|NCI|N|
C1880971|Glottic cancer with metastasis to a single ipsilateral lymph node, more than 3 cm, but not more than 6 cm in greatest dimension. (from AJCC 6th and 7th Eds.)|NCI|N|
C1880972|Glottic cancer with metastasis in two or more ipsilateral nodes, none more than 6 cm in greatest dimension. (from AJCC 6th and 7th Eds.)|NCI|N|
C1880973|Glottic cancer with metastasis in bilateral or contralateral lymph nodes, none more than 6 cm in greatest dimension. (from AJCC 6th and 7th Eds.)|NCI|N|
C1880974|Glottic cancer with metastasis in a lymph node, more than 6 cm in greatest dimension. (from AJCC 6th and 7th Eds.)|NCI|N|
C1880975|Glottic cancer in which the regional lymph nodes cannot be assessed. (from AJCC 6th and 7th Eds.)|NCI|N|
C1880976|Glottic cancer with no evidence of a primary tumor. (from AJCC 6th and 7th Eds.)|NCI|N|
C1880977|Glottic cancer with tumor limited to the vocal cord(s) (may involve anterior or posterior commissure) with normal mobility. (from AJCC 6th and 7th Eds.)|NCI|N|
C1880978|Glottic cancer with tumor limited to one vocal cord. (from AJCC 6th and 7th Eds.)|NCI|N|
C1880979|Glottic cancer with tumor involving both vocal cords. (from AJCC 6th and 7th Eds.)|NCI|N|
C1880980|Glottic cancer with tumor extending to supraglottis and/or subglottis, and/or with impaired vocal cord mobility. (from AJCC 6th and 7th Eds.)|NCI|N|
C1880981|Glottic cancer with tumor limited to the larynx with vocal cord fixation and /or invading paraglottic space, and/or minor thyroid cartilage erosion (e.g. inner cortex). (from AJCC 6th Ed.)|NCI|N|
C1880982|Glottic cancer with tumor invading through thyroid cartilage and/or invading tissues beyond the larynx (e.g. trachea, soft tissues of neck including deep extrinsic muscle of the tongue, strap muscles, thyroid, or esophagus). (from AJCC 6th Ed.)|NCI|N|
C1880983|Glottic cancer with tumor invading prevertebral space, encasing carotid artery, or invading mediastinal structures. (from AJCC 6th Ed.)|NCI|N|
C1880984|Glottic cancer in which the primary tumor cannot be assessed. (from AJCC 6th and 7th Eds.)|NCI|N|
C1880985|Glottic cancer with a finding of carcinoma in situ. (from AJCC 6th and 7th Eds.)|NCI|N|
C1880997|An abnormality of gonadotropin production resulting in abnormal levels of circulating gonadotropin.|NCI|N|
C1880999|Problem associated with the increased rate of change in temperature, pressure, or other variables as a function of distance, time, etc.|NCI|N|
C1881009|Problem associated with the inability to connect conductors of an electronic system for the purpose of controlling or impeding ground currents and voltages.|NCI|N|
C1881033|A finding about one or more characteristics of head and neck cancer, following the rules of the TNM AJCC v6 classification system.|NCI|N|
C1881034|A benign nevus that arises from the skin in the head and neck region.|NCI|N|
C1881035|Heart failure which leads an individual to seek medical attention.|NCI|N|
C1881046|Problem related to increased battery internal impedance.|NCI|N|
C1881048|Problem associated with higher than intended electrical impedance levels between device and patient connections.|NCI|N|
C1881050|Reading provided by the device is too high or higher than expected.|NCI|N|
C1881051|Test results provided by the device are too high or higher than expected.|NCI|N|
C1881052|Problem associated with the amount of input required by the device to detect a signal being higher than expected/desired.|NCI|N|
C1881056|An event in the personal medical history of peripheral vascular disease as evidenced by: 1. Claudication either with exertion or at rest; 2. Amputation for arterial vascular insufficiency; 3. Aorto-iliac occlusive disease reconstruction, peripheral vascular bypass surgery, angioplasty or stent; or percutaneous intervention to the extremities; 4. Documented abdominal aortic aneurysm (AAA) repair or stent; 5. Positive non-invasive/invasive test. It does not include procedures such as vein stripping, carotid disease, or procedures originating above the diaphragm. (from NIH Roadmap Cardiovascular Data Standards Working Group)|NCI|N|
C1881058|A lymphocyte depleted Hodgkin lymphoma characterized by the presence of diffuse fibrosis and a few Hodgkin and Reed-Sternberg cells.|NCI|N|
C1881059|A lymphocyte depleted Hodgkin lymphoma characterized by the presence of reticular fibrosis.|NCI|N|
C1881083|Contact of a tooth or restoration such that it encrouches on the interocclusal freeway space.|NCI|N|
C1881085|A pathologic finding about one or more characteristics of hypopharyngeal cancer, following the rules of the TNM AJCC v6 classification system as they pertain to distant metastases.|NCI|N|
C1881086|A pathologic finding about one or more characteristics of hypopharyngeal cancer, following the rules of the TNM AJCC v6 classification system as they pertain to staging of the primary tumor.|NCI|N|
C1881087|hypopharyngeal cancer, following the rules of the TNM classification system as they pertain to staging of regional lymph nodes.|NCI|N|
C1881088|A pathologic finding about one or more characteristics of hypopharyngeal cancer, following the rules of the TNM AJCC v6 classification system.|NCI|N|
C1881089|A finding about one or more characteristics of hypopharyngeal cancer, following the rules of the TNM AJCC v6 classification system.|NCI|N|
C1881090|Hypopharyngeal cancer with no distant metastasis. (from AJCC 6th Ed.)|NCI|N|
C1881091|Hypopharyngeal cancer with distant metastasis. (from AJCC 6th and 7th Eds.)|NCI|N|
C1881092|Hypopharyngeal cancer in which distant metastasis cannot be assessed. (from AJCC 6th Ed.)|NCI|N|
C1881093|Hypopharyngeal cancer with no metastasis to regional lymph nodes. (from AJCC 6th and 7th Eds.)|NCI|N|
C1881094|Hypopharyngeal cancer with metastasis to a single ipsilateral lymph node, 3 cm or less in greatest dimension. (from AJCC 6th and 7th Eds.)|NCI|N|
C1881095|Hypopharyngeal cancer with metastasis to a single ipsilateral lymph node, more than 3 cm, but not more than 6 cm in greatest dimension. (from AJCC 6th and 7th Eds.)|NCI|N|
C1881096|Hypopharyngeal cancer with metastasis in two or more ipsilateral nodes, none more than 6 cm in greatest dimension. (from AJCC 6th and 7th Eds.)|NCI|N|
C1881097|Hypopharyngeal cancer with metastasis in bilateral or contralateral lymph nodes, none more than 6 cm in greatest dimension. (from AJCC 6th and 7th Eds.)|NCI|N|
C1881098|Hypopharyngeal cancer with metastasis to one or more lymph nodes, more than 6 cm in greatest dimension. (from AJCC 6th Ed.)|NCI|N|
C1881099|Hypopharyngeal cancer in which the regional lymph nodes cannot be assessed. (from AJCC 6th and 7th Eds.)|NCI|N|
C1881100|Hypopharyngeal cancer with no evidence of a primary tumor. (from AJCC 6th and 7th Eds.)|NCI|N|
C1881101|Hypopharyngeal cancer with tumor limited to one subsite of the hypopharynx and with tumor size 2 centimeters or less in greatest dimension. (from AJCC 6th Ed.)|NCI|N|
C1881102|Hypopharyngeal cancer with tumor invading more than one subsite of hypopharynx or an adjacent site, or with tumor size more than 2 centimeters, but not more than 4 centimeters in greatest dimension without fixation of the hemilarynx. (from AJCC 6th and 7th Eds.)|NCI|N|
C1881103|Hypopharyngeal cancer with tumor size more than 4 centimeters in greatest dimension, or with fixation of the hemilarynx. (from AJCC 6th Ed.)|NCI|N|
C1881104|Hypopharyngeal cancer with tumor invading thyroid/cricoid cartilage, hyoid bone, thyroid gland, esophagus or central compartment soft tissue. (from AJCC 6ht Ed.)|NCI|N|
C1881105|Hypopharyngeal cancer with tumor invading prevertebral fascia, encasing carotid artery, or involving mediastinal structures. (from AJCC 6th Ed.)|NCI|N|
C1881106|Hypopharyngeal cancer in which the primary tumor cannot be assessed. (from AJCC 6th and 7th Eds.)|NCI|N|
C1881107|Hypopharyngeal cancer with a finding of carcinoma in situ. (from AJCC 6th and 7th Eds.)|NCI|N|
C1881132|Problem with image display leading to corrupted images or readouts/measurement indications.|NCI|N|
C1881143|Problem associated with electrical impedance levels between device and patient connections.|NCI|N|
C1881145|Problem associated with the device providing imprecise measurements when compared to a reference standard.|NCI|N|
C1881148|Problem associated with an unexpected or incomplete chemical reaction or effect.|NCI|N|
C1881149|Problem associated with the regulation and delivery of therapeutic agents (e.g. air, gas, drugs or fluids into a device or a patient under positive pressure).|NCI|N|
C1881150|Problem associated with gas output.|NCI|N|
C1881154|Cardiac arrest which occurs in the hospital setting.|NCI|N|
C1881156|Complete failure to fill as part of an automated process. For insufficient filling use Short Fill. For excessive filling use Overfill. For inconsistent filling use Volume Accuracy Problem.|NCI|N|
C1881157|Failure (=complete nonperformance) with regard to the intended function of irrigation.|NCI|N|
C1881158|Delivery at endpoint not as intended; either too low or too high.|NCI|N|
C1881160|Problem associated with fluctuations in the flow volume delivered per time, even if end volume is correct, and delivered in the correct total time.|NCI|N|
C1881161|Problem associated with an error due to imperfect timing of two operations, e.g. signal transmission time.|NCI|N|
C1881162|Problem associated with the means by which the operator and the equipment communicate or interact.|NCI|N|
C1881163|Problem associated with a failure during any step of reprocessing process (cleaning, disinfection, packaging, labeling, sterilization) of a used or opened from its original packaging, but unused, device.|NCI|N|
C1881165|Pacing voltage or pulse width is less than desired.|NCI|N|
C1881168|Problem with audible messages which do not guide a device user to the correct action.|NCI|N|
C1881169|Problem associated with the inappropriate delivery of an electrical energy.|NCI|N|
C1881170|Inappropriate sinus tachycardia is a nonparoxysmal tachyarrhythmia characterized by an increased resting heart rate (HR) and/or an exaggerated HR response to minimal exertion or a change in body posture. HR is constantly above the physiological range with no appropriate relation to metabolic or physiological demands.|HPO|N|
C1881171|Problem associated with audible prompts which cannot be heard clearly.|NCI|N|
C1881177|Problem associated with failure to process, service, or operate the device according to the manufacturer''s recommendations or recognized best practices.|NCI|N|
C1881178|Problem with any deviation from the documented specifications of the device that relate to visual feedback. e.g. the display of information, images on a screen, or output from the device.|NCI|N|
C1881180|Problem associated with inaccuracies in any written, printed, or graphic matter that is affixed to the device or its packaging with any matter that accompanies the device including verbal instructions related to identification, technical description and use of the device provided by the device manufacturers that is intended for healthcare professionals.|NCI|N|
C1881181|Problem with the device inappropriately analyzing a signal.|NCI|N|
C1881182|Measurement obtained from or provided by the device is obviously incorrect.|NCI|N|
C1881184|Problem associated with the written program code or application software used by a device to calculate parameters other than those related to dose or power.|NCI|N|
C1881185|Problem associated with the device which has been used for an unapproved indication or for an unapproved intended use.|NCI|N|
C1881187|Unintended increase in pressure, compromising the device''s intended function.|NCI|N|
C1881188|Problem associated with the removal of excess fluid or gas from a body cavity due to increased suction.|NCI|N|
C1881190|Unintended increase in pump speed and hence, probably, flow rate, compromising the intended function of the device.|NCI|N|
C1881204|Problem associated with the inability of the device to expand or enlarge with the intended inflation agent (e.g. saline or air).|NCI|N|
C1881210|Problem associated with the device failing to deliver liquids or gases as intended (e.g. delivering drugs at incorrect rate, problems with drawing fluid from a system.)|NCI|N|
C1881218|Problem associated with unsatisfactory installation, configuration, and/or setup of a specific device.|NCI|N|
C1881221|Problem associated with device markings/labeling, instructions for use, training and maintenance documentation or guidelines.|NCI|N|
C1881223|Problem associated with the device insufficiently cooled in device active (working) or/and non-active (nonworking) state.|NCI|N|
C1881224|Problem associated with the device or its components producing temperatures that are not as high as what is specified.|NCI|N|
C1881226|Problem associated with the ineffective and inconsistent depolarization of the heart.|NCI|N|
C1881227|Problem associated with intermittent faults in electrical/electronic interconnections.|NCI|N|
C1881228|Problem associated with the infusion not being steady, characterized by intermittent stoppages to the flow.|NCI|N|
C1881229|Problem associated with the failure of pacing device for a limited period of time, following which the item recovers its ability to perform its required function without being subjected to any external corrective action. Note: such as failure is often recurrent.|NCI|N|
C1881230|Problem with the device receiving an incoming signal on an intermittent basis when expected to be continuous.|NCI|N|
C1881231|Problem associated with the failure to deliver shock for a limited period of time, following which the item recovers its ability to perform its required function without being subjected to any external corrective action. Note: such as failure is often recurrent.|NCI|N|
C1881236|A disease occurring chiefly in the connective-tissue framework of an organ.|NCI|N|
C1881241|A morphologic finding indicating the presence of a benign, atypical, or malignant cellular proliferation within the ducts in a tissue sample.|NCI|N|
C1881243|A pathologic process that is confined to the mucosa.|NCI|N|
C1881244|A rare, unilateral, benign or malignant embryonal neoplasm typically presenting as a ciliary body mass during childhood. It arises from primitive medullary epithelium and contains heterologous elements, particularly cartilage, skeletal muscle, and brain tissue.|NCI|N|
C1881251|Problem associated with an undesired material change in shape, characterized by the infolding of one part within another part of a structure.|NCI|N|
C1881254|A benign epithelial neoplasm characterized by an endophytic growth, papillary pattern, and proliferation of neoplastic squamous cells without morphologic evidence of malignancy.|NCI|N|
C1881279|An electrocardiographic finding of a type of atrioventricular dissociation characterized by the atria (P waves) and ventricles (QRS complexes) beating at similar rates, although independently. (CDISC)|NCI|N|
C1881297|A morphologic finding indicating the presence of keratin in a tissue sample.|NCI|N|
C1881308|A pathologic finding about one or more characteristics of kidney cancer, following the rules of the TNM AJCC v6 classification system as they pertain to distant metastases.|NCI|N|
C1881309|A pathologic finding about one or more characteristics of kidney cancer, following the rules of the TNM AJCC v6 classification system as they pertain to staging of the primary tumor.|NCI|N|
C1881310|A pathologic finding about one or more characteristics of kidney cancer, following the rules of the TNM AJCC v6 classification system as they pertain to staging of regional lymph nodes. Laterality does not affect the N classification.|NCI|N|
C1881311|A pathologic finding about one or more characteristics of kidney cancer, following the rules of the TNM AJCC v6 classification system.|NCI|N|
C1881312|A finding about one or more characteristics of kidney cancer, following the rules of the TNM AJCC v6 classification system. This classification system applies only to renal cell carcinoma; sarcomas and adenomas are not included.|NCI|N|
C1881313|Kidney cancer with no distant metastasis. (from AJCC 6th Ed.)|NCI|N|
C1881314|Kidney cancer with distant metastasis. (from AJCC 6th and 7th Eds.)|NCI|N|
C1881315|Kidney cancer in which distant metastasis cannot be assessed. (from AJCC 6th Ed.)|NCI|N|
C1881316|Kidney cancer with no metastasis to regional lymph nodes. (from AJCC 6th and 7th Eds.)|NCI|N|
C1881317|Kidney cancer with metastasis to a single regional lymph node. (from AJCC 6th Ed.)|NCI|N|
C1881318|Kidney cancer with metastasis to more than one regional lymph node. (from AJCC 6th Ed.)|NCI|N|
C1881319|Kidney cancer in which the regional lymph nodes cannot be assessed. (from AJCC 6th and 7th Eds.)|NCI|N|
C1881320|No evidence of primary tumor. (from AJCC 6th and 7th Eds.)|NCI|N|
C1881321|Kidney cancer with tumor 7 cm or less in greatest dimension, limited to the kidney. (from AJCC 6th and 7th Eds.)|NCI|N|
C1881322|Kidney cancer with tumor 4 cm or less in greatest dimension, limited to the kidney. (from AJCC 6th and 7th Eds.)|NCI|N|
C1881323|Kidney cancer with tumor more than 4 cm but not more than 7 cm in greatest dimension, limited to the kidney. (from AJCC 6th and 7th Eds.)|NCI|N|
C1881324|Kidney cancer with tumor more than 7 cm in greatest dimension, limited to the kidney. (from AJCC 6th and 7th Eds.)|NCI|N|
C1881325|Kidney cancer with tumor extending into major veins or invading the adrenal gland or perinephric tissues, but not extending beyond Gerota''s fascia. (from AJCC 6th Ed.)|NCI|N|
C1881326|Kidney cancer with tumor directly invading the adrenal gland or perirenal and/or renal sinus fat, but not beyond Gerota''s fascia. (from AJCC 6th Ed.)|NCI|N|
C1881327|Kidney cancer with tumor grossly extending into the renal vein or its segmental (muscle-containing) branches, or vena cava below the diaphragm. (from AJCC 6th Ed.)|NCI|N|
C1881328|Kidney cancer with tumor grossly extending into the vena cava above the diaphragm, or invading the wall of the vena cava. (from AJCC 6th Ed.)|NCI|N|
C1881329|Kidney cancer with tumor extending beyond Gerota''s fascia. (from AJCC 6th Ed.)|NCI|N|
C1881330|Kidney cancer in which the primary tumor cannot be assessed. (from AJCC 6th and 7th Eds.)|NCI|N|
C1881332|A finding associated with a patient based on the classification developed by Killip and Kimball, which classifies patients with myocardial infarction based on routine physical examination parameters, such as the presence or absence of rales, or a decreased systolic blood pressure.|NCI|N|
C1881361|A finding about one or more characteristics of laryngeal cancer, following the rules of the TNM AJCC v6 classification system.|NCI|N|
C1881362|A disorder characterized by bleeding from the larynx.|NCI|N|
C1881366|Problem associated with the escape of a liquid or gas from the vessel or container in which it is housed.|NCI|N|
C1881382|A pathologic finding about one or more characteristics of lip and oral cavity cancer, following the rules of the TNM AJCC v6 classification system as they pertain to distant metastases.|NCI|N|
C1881383|A pathologic finding about one or more characteristics of lip and oral cavity cancer, following the rules of the TNM AJCC v6 classification system as they pertain to staging of the primary tumor.|NCI|N|
C1881384|A pathologic finding about one or more characteristics of lip and oral cavity cancer, following the rules of the TNM AJCC v6 classification system as they pertain to staging of regional lymph nodes.|NCI|N|
C1881385|A pathologic finding about one or more characteristics of lip and oral cavity cancer, following the rules of the TNM AJCC v6 classification system.|NCI|N|
C1881386|A finding about one or more characteristics of lip and oral cavity cancer, following the rules of the TNM AJCC v6 classification system.|NCI|N|
C1881387|Lip and oral cavity cancer with no distant metastasis. (from AJCC 6th Ed.)|NCI|N|
C1881388|Lip and oral cavity cancer with distant metastasis. (from AJCC 6th and 7th Eds.)|NCI|N|
C1881389|Lip and oral cavity cancer in which distant metastasis cannot be assessed. (from AJCC 6th Ed.)|NCI|N|
C1881390|Lip and oral cavity cancer with no metastasis to regional lymph nodes. (from AJCC 6th and 7th Eds.)|NCI|N|
C1881391|Lip and oral cavity cancer with metastasis to a single ipsilateral lymph node, 3 cm or less in greatest dimension. (from AJCC 6th and 7th Eds.)|NCI|N|
C1881392|Lip and oral cavity cancer with metastasis to a single ipsilateral lymph node, more than 3 cm, but not more than 6 cm in greatest dimension. (from AJCC 6th and 7th Eds.)|NCI|N|
C1881393|Lip and oral cavity cancer with metastasis in two or more ipsilateral nodes, none more than 6 cm in greatest dimension. (from AJCC 6th and 7th Eds.)|NCI|N|
C1881394|Lip and oral cavity cancer with metastasis in bilateral or contralateral lymph nodes, none more than 6 cm in greatest dimension. (from AJCC 6th and 7th Eds.)|NCI|N|
C1881395|Lip and oral cavity cancer with metastasis to one or more lymph nodes, more than 6 cm in greatest dimension. (from AJCC 6th and 7th Eds.)|NCI|N|
C1881396|Lip and oral cavity cancer in which the regional lymph nodes cannot be assessed. (from AJCC 6th and 7th Eds.)|NCI|N|
C1881397|Lip and oral cavity cancer with no evidence of a primary tumor. (from AJCC 6th and 7th Eds.)|NCI|N|
C1881398|Lip and oral cavity cancer with tumor size 2 centimeters or less in greatest dimension. (from AJCC 6th and 7th Eds.)|NCI|N|
C1881399|Lip and oral cavity cancer with tumor size more than 2 centimeters, but not more than 4 centimeters in greatest dimension. (from AJCC 6th and 7th Eds.)|NCI|N|
C1881400|Lip and oral cavity cancer with tumor size more than 4 centimeters in greatest dimension. (from AJCC 6th and 7th Eds.)|NCI|N|
C1881401|Lip cancer with tumor invading through cortical bone, inferior alveolar nerve, floor of mouth or skin of face (i.e. chin or nose). Superficial erosion of bone or tooth socket by a gingival primary tumor is not sufficient to classify as T4. (from AJCC 6th Ed.)|NCI|N|
C1881402|Oral cavity cancer with tumor invading adjacent structures (e.g. through cortical bone, into deep [extrinsic] muscle of the tongue [genioglossus, hyoglossus, palatoglossus, and styloglossus], maxillary sinus, skin of face). (from AJCC 6th Ed.)|NCI|N|
C1881403|Lip and oral cavity cancer with tumor involving the masticator space, pterygoid plates, or skull base and/or encases the internal carotid artery. (from AJCC 6th Ed.)|NCI|N|
C1881404|Lip and oral cavity cancer in which the primary tumor cannot be assessed. (from AJCC 6th and 7th Eds.)|NCI|N|
C1881405|Lip and oral cavity cancer with a finding of carcinoma in situ. (from AJCC 6th and 7th Eds.)|NCI|N|
C1881406|A rare disorder resulting from neoplastic exocrine excess. It is typically seen in 10-15 % of patients with pancreatic acinar cell carcinoma. Clinical signs include subcutaneous fat necrosis, polyarthralgia and osteolytic lesions. Clinical course may proceed to non-bacterial thrombotic endocarditis. Clinical prognosis is poor due to its usual onset with advanced disease.|NCI|N|
C1881415|A clinical finding about one or more characteristics of liver cancer, following the rules of the TNM AJCC v6 classification system. TNM clinical findings are based on information obtained prior to the first definitive treatment through physical examination, diagnostic imaging, and biopsy.|NCI|N|
C1881416|A pathologic finding about one or more characteristics of liver cancer, following the rules of the TNM AJCC v6 classification system as they pertain to distant metastases. TNM pathologic distant metastasis findings are based on clinical findings supplemented by histopathologic examination of one or more tissue specimens acquired during surgery.|NCI|N|
C1881417|A pathologic finding about one or more characteristics of liver cancer, following the rules of the TNM AJCC v6 classification system as they pertain to staging of the primary tumor. TNM pathologic primary tumor findings are based on clinical findings supplemented by histopathologic examination of one or more tissue specimens acquired during surgery.|NCI|N|
C1881418|A pathologic finding about one or more characteristics of liver cancer, following the rules of the TNM AJCC v6 classification system as they pertain to staging of regional lymph nodes. TNM pathologic regional lymph nodes findings are based on clinical findings supplemented by histopathologic examination of one or more tissue specimens acquired during surgery.|NCI|N|
C1881419|A pathologic finding about one or more characteristics of liver cancer, following the rules of the TNM AJCC v6 classification system. TNM pathologic findings are based on clinical findings supplemented by histopathologic examination of one or more tissue specimens acquired during surgery.|NCI|N|
C1881420|A finding about one or more characteristics of primary liver cancer, following the rules of the TNM AJCC v6 classification system.|NCI|N|
C1881421|Liver cancer with no evidence of distant metastasis. (from AJCC 6th Ed.)|NCI|N|
C1881422|Liver cancer with distant metastasis. (from AJCC 6th Ed.)|NCI|N|
C1881423|Liver cancer in which distant metastasis cannot be assessed. (from AJCC 6th Ed.)|NCI|N|
C1881424|Liver cancer with no regional lymph node metastasis. (from AJCC 6th Ed.)|NCI|N|
C1881425|Liver cancer with regional lymph node metastasis. (from AJCC 6th Ed.)|NCI|N|
C1881426|Liver cancer in which the regional lymph nodes cannot be assessed. (from AJCC 6th Ed.)|NCI|N|
C1881427|Liver cancer with no evidence of a primary tumor. (from AJCC 6th Ed.)|NCI|N|
C1881428|Liver cancer with a solitary tumor of any size without vascular invasion. (from AJCC 6th Ed.)|NCI|N|
C1881429|Liver cancer with a solitary tumor of any size with vascular invasion, or with multiple tumors none of which are more than 5 cm in size. (from AJCC 6th Ed.)|NCI|N|
C1881430|Liver cancer with multiple tumors at least one of which is more than 5 cm in size, or a tumor involving a major branch of the portal or hepatic vein. (from AJCC 6th Ed.)|NCI|N|
C1881431|Liver cancer with tumor(s) invading adjacent organs other than the gallbladder or with tumor perforating the visceral peritoneum. (from AJCC 6th Ed.)|NCI|N|
C1881432|Liver cancer in which the primary tumor cannot be assessed. (from AJCC 6th Ed.)|NCI|N|
C1881442|Problem associated with the connection of the device being loose or intermittent.|NCI|N|
C1881450|Problem associated with weakened integration of the device at the bone-implant interface due to loss of fibrous and/or bony tissue and leading to compromised anchorage of the device. i.e. ''Loosening/Lysis.''|NCI|N|
C1881451|Problem associated with the failure of primary power supplied by the facility.|NCI|N|
C1881453|Problem associated with the loss of the minimum amount of energy, voltage, or current needed to consistently stimulate the heart muscle.|NCI|N|
C1881455|The audible device alarm cannot be heard clearly.|NCI|N|
C1881456|Problem related to decreased battery internal impedance.|NCI|N|
C1881458|Problem associated with lower than intended electrical impedance levels between device and patient connections.|NCI|N|
C1881459|Reading provided by the device is too low or lower than expected.|NCI|N|
C1881460|Test results provided by the device are too low or lower than expected.|NCI|N|
C1881461|Problem associated with the amount of an input required by the device to detect a signal being lower than expected/desired.|NCI|N|
C1881463|A clinical finding about one or more characteristics of lung cancer, following the rules of the TNM AJCC v6 classification system.|NCI|N|
C1881464|A pathologic finding about one or more characteristics of lung cancer, following the rules of the TNM AJCC v6 classification system as they pertain to distant metastases.|NCI|N|
C1881465|A pathologic finding about one or more characteristics of lung cancer, following the rules of the TNM AJCC v6 classification system as they pertain to staging of the primary tumor.|NCI|N|
C1881466|A pathologic finding about one or more characteristics of lung cancer, following the rules of the TNM AJCC v6 classification system as they pertain to staging of regional lymph nodes.|NCI|N|
C1881467|A pathologic finding about one or more characteristics of lung cancer, following the rules of the TNM AJCC v6 classification system.|NCI|N|
C1881468|A finding about one or more characteristics of lung cancer, following the rules of the TNM AJCC v6 classification system.|NCI|N|
C1881469|Lung cancer with no evidence of distant metastasis. (from AJCC 6th Ed.)|NCI|N|
C1881470|Lung cancer with distant metastasis. (from AJCC 6th Ed.)|NCI|N|
C1881471|Lung cancer in which distant metastasis cannot be assessed. (from AJCC 6th Ed.)|NCI|N|
C1881472|Lung cancer with no evidence of metastasis to regional lymph nodes. (from AJCC 6th and 7th Eds.)|NCI|N|
C1881473|Lung cancer with metastasis to ipsilateral peribronchial and/or ipsilateral hilar lymph nodes, including intrapulmonary nodes involved by direct extension of the primary tumor. (from CAP Lung Cancer Protocol--January 2005 Revision)|NCI|N|
C1881474|Lung cancer with metastasis to ipsilateral mediastinal and/or subcarinal lymph nodes. (from AJCC 6th and 7th Eds.)|NCI|N|
C1881475|Lung cancer with metastasis to contralateral mediastinal, contralateral hilar, ipsilateral or contralateral scalene, or supraclavicular lymph nodes. (from AJCC 6th and 7th Eds.)|NCI|N|
C1881476|Lung cancer in which regional lymph nodes cannot be assessed. (from AJCC 6th and 7th Eds.)|NCI|N|
C1881477|Lung cancer without any evidence of a primary tumor. (from AJCC 6th and 7th Eds.)|NCI|N|
C1881478|Lung cancer with a tumor size of 3 cm or less in greatest dimension, surrounded by lung or visceral pleura and without bronchoscopic evidence of invasion more proximal than the lobar bronchus (not invading the main bronchus). The uncommon superficial tumor of any size with its invasive component limited to the bronchial wall, which may extend proximal to the main bronchus, is also classified as T1. (from AJCC 6th Ed.)|NCI|N|
C1881479|Lung cancer with a tumor size of greater than 3 cm in greatest dimension, or a tumor of any size extending into the main bronchus (2 cm or more distal to the carina), or a tumor of any size invading the visceral pleura, or a tumor with atelectasis or obstructive pneumonitis extending to the hilar region without involving the entire lung. (from AJCC 6th Ed.)|NCI|N|
C1881480|Lung cancer directly invading the chest wall (including superior sulcus tumors), diaphragm, mediastinal pleura or parietal pericardium, or a tumor of any size extending into the main bronchus less than 2 cm distal to the carina but without involvement of the carina, or a tumor of any size with atelectasis or obstructive pneumonitis involving the entire lung. (from AJCC 6th Ed.)|NCI|N|
C1881481|Lung cancer with invasion of the mediastinum, heart, great vessels, trachea, esophagus, vertebral body or carina, or presence of separate tumor nodules within a same lobe, or the presence of a malignant pleural effusion. Although most pleural effusions associated with lung cancer are due to tumor, there are a few patients in whom multiple cytopathologic examinations of the pleural fluid are negative for tumor. In these cases, the fluid is non-bloody and is not an exudate. Such patients may be further evaluated with videothoracoscopy and direct pleural biopsy. When these elements and clinical judgment dictate that the effusion is not related to the tumor, the effusion should be excluded as a staging element. (from AJCC 6th Ed.)|NCI|N|
C1881482|Lung cancer in which the primary tumor cannot be assessed, or in which the diagnosis is confirmed by the presence of malignant cells in sputum or bronchial washings, but not visualized by imaging or bronchoscopy. (from AJCC 6th and 7th Eds.)|NCI|N|
C1881483|Lung cancer with a finding of carcinoma in situ. (from AJCC 6th and 7th Eds.)|NCI|N|
C1881484|A neoplasm that arises from mature B-lymphocytes or plasma cells in the lung. Representative examples include mucosa-associated lymphoid tissue lymphoma, diffuse large B-cell lymphoma, lymphomatoid granulomatosis, and primary pulmonary plasmacytoma.|NCI|N|
C1881511|A pathologic finding about one or more characteristics of major salivary gland cancer, following the rules of the TNM AJCC v6 classification system as they pertain to distant metastases.|NCI|N|
C1881512|A pathologic finding about one or more characteristics of major salivary gland cancer, following the rules of the TNM AJCC v6 classification system as they pertain to staging of the primary tumor.|NCI|N|
C1881513|A pathologic finding about one or more characteristics of major salivary gland cancer, following the rules of the TNM AJCC v6 classification system as they pertain to staging of regional lymph nodes.|NCI|N|
C1881514|A pathologic finding about one or more characteristics of major salivary gland cancer, following the rules of the TNM AJCC v6 classification system.|NCI|N|
C1881515|A finding about one or more characteristics of major salivary gland cancer, following the rules of the TNM AJCC v6 classification system.|NCI|N|
C1881516|Major salivary gland cancer with no distant metastasis. (from AJCC 6th Ed.)|NCI|N|
C1881517|Major salivary gland cancer with distant metastasis. (from AJCC 6th and 7th Eds.)|NCI|N|
C1881518|Major salivary gland cancer in which distant metastasis cannot be assessed. (from AJCC 6th Ed.)|NCI|N|
C1881519|Major salivary gland cancer with no metastasis to regional lymph nodes. (from AJCC 6th and 7th Eds.)|NCI|N|
C1881520|Major salivary gland cancer with metastasis in a single ipsilateral lymph node, 3 cm or less in greatest dimension. (from AJCC 6th and 7th Eds.)|NCI|N|
C1881521|Major salivary gland cancer with metastasis in a single ipsilateral lymph node, more than 3 cm but not more than 6 cm in greatest dimension, or in multiple ipsilateral lymph nodes, none more than 6 cm in greatest dimension, or in bilateral or contralateral lymph nodes, none more than 6 cm in greatest dimension. (from AJCC 6th and 7th Eds.)|NCI|N|
C1881522|Major salivary gland cancer with metastasis in a single ipsilateral lymph node, more than 3 cm but not more than 6 cm in greatest dimension. (from AJCC 6th and 7th Eds.)|NCI|N|
C1881524|Major salivary gland cancer with metastasis in bilateral or contralateral lymph nodes, none more than 6 cm in greatest dimension. (from AJCC 6th and 7th Eds.)|NCI|N|
C1881525|Major salivary gland cancer with metastasis in a lymph node, more than 6 cm in greatest dimension. (from AJCC 6th and 7th Eds.)|NCI|N|
C1881526|Major salivary gland cancer in which the regional lymph nodes cannot be assessed. (from AJCC 6th and 7th Eds.)|NCI|N|
C1881527|Major salivary gland cancer with no evidence of a primary tumor. (from AJCC 6th and 7th Eds.)|NCI|N|
C1881528|Major salivary gland cancer with tumor 2 cm or less in greatest dimension without extraparenchymal extension. Extraparenchymal extension is clinical or macroscopic evidence of invasion of soft tissues. Microscopic evidence alone does not constitute extraparenchymal extension for classification purposes. (from AJCC 6th and 7th Eds.)|NCI|N|
C1881529|Major salivary gland cancer with tumor more than 2 cm, but not more than 4 cm in greatest dimension without extraparenchymal extension. Extraparenchymal extension is clinical or macroscopic evidence of invasion of soft tissues. Microscopic evidence alone does not constitute extraparenchymal extension for classification purposes. (from AJCC 6th and 7th Eds.)|NCI|N|
C1881530|Major salivary gland cancer with tumor more than 4 cm in greatest dimension, and/or tumor having extraparenchymal extension. Extraparenchymal extension is clinical or macroscopic evidence of invasion of soft tissues. Microscopic evidence alone does not constitute extraparenchymal extension for classification purposes. (from AJCC 6th and 7th Eds.)|NCI|N|
C1881531|Major salivary gland cancer with tumor invading the skin, mandible, ear canal, and/or facial nerve. (from AJCC 6th Ed.)|NCI|N|
C1881532|Major salivary gland cancer with tumor invading the skull base and/or pterygoid plates and/or encasing the carotid artery. (from AJCC 6th Ed.)|NCI|N|
C1881533|Major salivary gland cancer in which the primary tumor cannot be assessed. (from AJCC 6th and 7th Eds.)|NCI|N|
C1881585|A gastrin-producing neuroendocrine tumor arising from the pancreas. It is characterized by inappropriate secretion of gastrin and associated with Zollinger Ellison syndrome. It displays vascular invasion and metastasizes to other anatomic sites.|NCI|N|
C1881586|A pancreatic neuroendocrine tumor producing vasoactive intestinal peptide (VIP). It is associated with watery diarrhea, hypokalemia, and hypochlorhydria or achlorhydria. It displays vascular invasion and metastasizes to other anatomic sites. One third of cases are metastatic at the time of diagnosis.|NCI|N|
C1881600|An aggressive neuroendocrine tumor located in the pancreas or small intestine. It is composed of cells containing vasoactive intestinal peptide. It is associated with watery diarrhea, hypokalemia, and hypochlorhydria or achlorhydria. It displays vascular invasion and metastasizes to other anatomic sites.|NCI|N|
C1881601|Problem associated with the device being positioned in a location other than intended or specified.|NCI|N|
C1881602|Problem associated with the acquisition of computer programming codes that can replicate and spread from one computer system to another thereby leading to damaged software, hardware and data.|NCI|N|
C1881604|Problem associated with any deviations from the documented specifications of the device that relate to nonconformity during manufacture to the design of an item or to specified manufacturing, packaging or shipping processes (out of box problem).|NCI|N|
C1881609|A pathologic finding about one or more characteristics of maxillary sinus cancer, following the rules of the TNM AJCC v6 classification system as they pertain to distant metastases.|NCI|N|
C1881610|A pathologic finding about one or more characteristics of maxillary sinus cancer, following the rules of the TNM AJCC v6 classification system as they pertain to staging of regional lymph nodes.|NCI|N|
C1881611|A pathologic finding about one or more characteristics of maxillary sinus cancer, following the rules of the TNM AJCC v6 classification system.|NCI|N|
C1881612|A finding about one or more characteristics of maxillary sinus cancer, following the rules of the TNM AJCC v6 classification system.|NCI|N|
C1881613|Maxillary sinus cancer with no distant metastasis. (from AJCC 6th Ed.)|NCI|N|
C1881614|Maxillary sinus cancer with distant metastasis. (from AJCC 6th and 7th Eds.)|NCI|N|
C1881615|Maxillary sinus cancer in which distant metastasis cannot be assessed. (from AJCC 6th Ed.)|NCI|N|
C1881616|Maxillary sinus cancer with no metastasis to regional lymph nodes. (from AJCC 6th and 7th Eds.)|NCI|N|
C1881617|Maxillary sinus cancer with metastasis to a single ipsilateral lymph node, 3 cm or less in greatest dimension. (from AJCC 6th and 7th Eds.)|NCI|N|
C1881618|Maxillary sinus cancer with metastasis to a single ipsilateral lymph node, more than 3 cm, but not more than 6 cm in greatest dimension. (from AJCC 6th and 7th Eds.)|NCI|N|
C1881619|Maxillary sinus cancer with metastasis in multiple ipsilateral lymph nodes, none more than 6 cm in greatest dimension. (from AJCC 6th and 7th Eds.)|NCI|N|
C1881620|Maxillary sinus cancer with metastasis in bilateral or contralateral lymph nodes, none more than 6 cm in greatest dimension. (from AJCC 6th and 7th Eds.)|NCI|N|
C1881621|Maxillary sinus cancer with metastasis in a lymph node, more than 6 cm in greatest dimension. (from AJCC 6th and 7th Eds.)|NCI|N|
C1881622|Maxillary sinus cancer in which the regional lymph nodes cannot be assessed. (from AJCC 6th and 7th Eds.)|NCI|N|
C1881623|Maxillary sinus cancer with no evidence of a primary tumor. (from AJCC 6th and 7th Eds.)|NCI|N|
C1881624|Maxillary sinus cancer with tumor limited to the maxillary sinus mucosa with no erosion or destruction of bone. (from AJCC 6th and 7th Eds.)|NCI|N|
C1881625|Maxillary sinus cancer with tumor causing bone erosion or destruction including extension into the hard palate and/or middle nasal meatus, except extension to posterior wall of maxillary sinus and pterygoid plates. (from AJCC 6th and 7th Eds.)|NCI|N|
C1881626|Maxillary sinus cancer with tumor invading any of the following: bone of the posterior wall of maxillary sinus, subcutaneous tissues, floor or medial wall of orbit, pterygoid fossa, or ethmoid sinuses. (from AJCC 6th and 7th Eds.)|NCI|N|
C1881627|Maxillary sinus cancer with tumor invading anterior orbital contents, skin of cheek, pterygoid plates, infratemporal fossa, cribriform plate, sphenoid or frontal sinuses. (from AJCC 6th Ed.)|NCI|N|
C1881628|Maxillary sinus cancer with tumor invading any of the following: orbital apex, dura, brain, middle cranial fossa, cranial nerves other than maxillary division of trigeminal nerve, nasopharynx, or clivus. (from AJCC 6th Ed.)|NCI|N|
C1881629|Maxillary sinus cancer in which the primary tumor cannot be assessed. (from AJCC 6th and 7th Eds.)|NCI|N|
C1881630|Maxillary sinus cancer with a finding of carcinoma in situ. (from AJCC 6th and 7th Eds.)|NCI|N|
C1881636|Problem associated with the incompatibility of the measurement systems between and/or within device systems that are inherent to the individual device thereby leading to miscalculated or mismatched measurements from those devices, e.g., international metric system versus U.S. measurement system.|NCI|N|
C1881638|The motion of the device is prevented or restricted.|NCI|N|
C1881640|Problem associated with the interaction between the patient''s physiology or anatomy and the device that affects the patient and/or the device.|NCI|N|
C1881642|An accessory required for the intended purpose of the device appears incompatible with device, thus compromising the intended function of the device.|NCI|N|
C1881643|Problem associated with delayed or difficult activation of the device.|NCI|N|
C1881644|Problem associated with the movement of the device to an intended location.|NCI|N|
C1881645|Problem associated with the alarm system of the device.|NCI|N|
C1881647|Problem associated with the device setting a variable, register, or other storage location to an inappropriate or unexpected state.|NCI|N|
C1881648|Problem associated with the internal power of a device (e.g. battery, transformer, fuel cell or other power sources).|NCI|N|
C1881650|Problem associated with the operation of a device, related to its accuracy, and associated with the calibration of the device.|NCI|N|
C1881651|Problem associated with the inability of a device to successfully charge an electrical source.|NCI|N|
C1881653|Problem related to an obstruction or blockage within the device component (e.g. tube, opening, pipe) that results in no flow.|NCI|N|
C1881655|A component required for the proper functioning of a device is not compatible with other components or subassemblies of a device, thus compromising the intended function of a device.|NCI|N|
C1881656|A device component(s) found to be missing when delivered to the user facility.|NCI|N|
C1881657|Problem associated with the incompatibility of any device while being operated in the same use environment thereby leading to a dysfunction between the devices.|NCI|N|
C1881658|Problem associated with the presence of any unexpected foreign substance found on the surface or in the package materials, which may affect optimal performance for its intended use.|NCI|N|
C1881659|Problem associated with the undesired introduction of impurities either chemical or microbiological in nature, or of foreign matter into or onto a device at the user facility.|NCI|N|
C1881661|Problem associated with the undesired presence of body fluid in/on the device, which are not part of the documented device specifications and requirements.|NCI|N|
C1881662|Problem associated with packaging or shipping damage prior to the use of a device.|NCI|N|
C1881663|Problem associated with a device being received in such a manner to indicate that its sterility has been compromised (e.g. sterile packaging breached, visible contaminate present).|NCI|N|
C1881664|Problem associated with any deviations from the documented specifications of a medical device that relate to the sequence of events for activation, positioning or separation of device.|NCI|N|
C1881665|The device that is difficult to flush, possibly indicating an obstruction within device.|NCI|N|
C1881666|Problem associated with the use of the device in terms of user experiencing difficulty opening and closing the device, even if the operation is being performed according to labeled instructions for use.|NCI|N|
C1881667|Problem associated with the use of the device in terms of user experiencing difficulty in preparing device for use, even if the operation is being performed according to labeled instructions for use.|NCI|N|
C1881670|Problem associated with a failure of the electrical circuitry of the device.|NCI|N|
C1881673|Problem associated with an unexpected or inappropriate smell released by the device.|NCI|N|
C1881674|Problem associated with a cloud of vapor or gas generated from the device, generally associated after a fire or a burn.|NCI|N|
C1881675|Problem with the device''s intended output of energy.|NCI|N|
C1881677|Problem associated with the energy output from the device not being in the expected part of the spectrum.|NCI|N|
C1881678|Problem associated with errors in identification of expiration date.|NCI|N|
C1881680|Problem associated with the feature that prevents the unsafe use of the device.|NCI|N|
C1881682|Problem associated with the inability of device to turn itself off when the device is not in an operable condition.|NCI|N|
C1881683|Problem associated with the failure of the device to perform a self-calibration procedure or process designed to assure the accuracy and proper performance of the device.|NCI|N|
C1881684|Problem associated with the inability of the device to turn on related to energy delivered to a medical device.|NCI|N|
C1881685|Problem associated with the device failing to set a variable, register, or other storage location back to a prescribed state.|NCI|N|
C1881686|Problem associated with the device failing to operate when not connected to a fixed power source.|NCI|N|
C1881687|Problem associated with the device failing to perform an internal self-diagnostic process to ensure normal operation during or prior to use.|NCI|N|
C1881688|Problem associated with the device not powering off when a shut down was requested.|NCI|N|
C1881689|Problem associated with the device failing to set a variable, register, or other storage location back to zero.|NCI|N|
C1881690|Problem associated with the process of passing a substance through a porous medium, e.g., a blood clot filter for the removal of suspended matter.|NCI|N|
C1881691|Problem associated with the filter failing to remove items or substances which should have been removed.|NCI|N|
C1881693|Problem associated with compatibility between device, patients or substances (medication, body fluid, etc.).|NCI|N|
C1881694|Problem associated with any deviations from the documented specifications of the device that relate to any ingredient or reagent characterization.|NCI|N|
C1881695|pH higher than expected and/or anticipated.|NCI|N|
C1881701|Problem associated with the written, printed or graphic material accompanying or affixed to the device or any of its packaging. This includes verbal instructions relating to identification, technical description, and usage provided by a medical device manufacturers. Problems can include but are not limited to this material being unclear, missing, worn out, incorrect or inaccurate.|NCI|N|
C1881704|Problem associated with undesired damage or breakage of those materials used in the device construction.|NCI|N|
C1881705|Problem associated with the pressure inside a vessel or container rising to such a degree that the container ruptures.|NCI|N|
C1881706|Problem associated with an undesired partial separation and/or a visible opening along the length or width in the materials that are used in the device construction.|NCI|N|
C1881707|Problem associated with a undesired change in the chemical structure, physical properties, or appearance in the materials that are used in the device construction.|NCI|N|
C1881708|Problem associated with small pieces of the device breaking off unexpectedly.|NCI|N|
C1881709|Problem associated with any deviations from the documented specifications of the device that relate to the limited durability of all material used to construct the device.|NCI|N|
C1881710|Material constituting device is perforated possibly compromising the device''s intended purpose.|NCI|N|
C1881711|Device material(s) punctured leading to undesired holes/openings.|NCI|N|
C1881712|Problem associated with perforations that lead to bursting of the device.|NCI|N|
C1881713|Problem associated with an undesired disassociation or breaking apart of the device.|NCI|N|
C1881717|Problems associated with mechanical actions or defects of the device, which includes any moving parts or subassemblies, etc.|NCI|N|
C1881718|Problem associated with a device mechanical functioning of machinery, moving parts or tools of device being changed or modified.|NCI|N|
C1881720|Problem associated with incorrect assembly of the device or constituents after being put into use.|NCI|N|
C1881721|A device found incorrectly assembled when delivered to the user facility.|NCI|N|
C1881725|Problem associated with transmission of visible light affecting the quality of the image transmitted or otherwise affecting the intended application of the visible light path.|NCI|N|
C1881727|Problem associated with any deviation from the documented specifications of the device that relate to the end result, data, or test results provided by the device.|NCI|N|
C1881728|Device output is exceeding the documented specifications of the device.|NCI|N|
C1881729|Device output is below the documented specifications of the device.|NCI|N|
C1881730|Problem associated with the nonconformance to the device specifications due to incomplete or missing packaging that may compromise the device operation as intended.|NCI|N|
C1881731|Problem associated with the materials used to construct the cover or outer wrapping of the device.|NCI|N|
C1881736|Problem associated with the application of a force either internal or external to device that compromises the flow of fluid or gas.|NCI|N|
C1881737|Problem associated with any deviations from the documented specifications of the device that relate to the implemented and inherited design features specific to devices used for reducing risks to patient or caregiver or maintaining risks within specified levels.|NCI|N|
C1881738|Problem associated with the device continuing to be in an active state after deactivation was requested.|NCI|N|
C1881740|Problem associated with setting a variable, register, or other storage location back to a prescribed state.|NCI|N|
C1881741|Problem associated with drawing back the device to an intended location.|NCI|N|
C1881745|Problem associated with shipping damage or problem prior to the use of the device.|NCI|N|
C1881747|Problem associated with the basic physical construction or physical make up of the device.|NCI|N|
C1881748|Problem associated with the device producing unintended temperatures.|NCI|N|
C1881749|Problem associated with the inability of the device to stay in an upright position.|NCI|N|
C1881751|Problem associated with linking of a device and/or the functional units set up to provide means for a transfer of liquid, gas, electricity or data.|NCI|N|
C1881752|Problem associated with one device causing harm to another device.|NCI|N|
C1881754|Problem associated with the comprising materials'' deformation in that device fails to open its wrapping or open/extend in a certain manner i.e. balloon or lens.|NCI|N|
C1881755|A difficulty with the quality of part of the device or the device itself.|NCI|N|
C1881756|The physical size and/or shape of the device was inadequate with regard to the patient''s anatomy.|NCI|N|
C1881758|Issue associated with the inability to retrieve device and/or device fragments during medical procedures.|NCI|N|
C1881759|Problem associated with any from the documented specifications of a device that relate to any chemical characterization, i.e., element, compound, or mixture.|NCI|N|
C1881788|A morphologic finding that refers to the transformation or replacement of a group of non-mesenchymal cells into osseous, cartilagenous, or lipomatous cells.|NCI|N|
C1881799|Transformation of malignant cells with a specific differentiation to different morphologic types.|NCI|N|
C1881801|A signet ring cell carcinoma that has spread from its original site of growth to another anatomic site.|NCI|N|
C1881855|A morphologic finding indicating the infiltration of the stroma immediately adjacent to a carcinoma in situ by isolated malignant cells or small groups of malignant cells.|NCI|N|
C1881856|A lesion in which the neoplastic epithelial cells invade into but not through the capsule that surround the neoplasm, or invade the entire thickness of the capsule, or invade vessels surrounding the capsule. Unlike widely invasive lesions, the minimally invasive lesions cannot be recognized as carcinomas on clinical and surgical grounds. The diagnosis can only be established microscopically.|NCI|N|
C1881859|Problem associated with the written program code or application software used by a device for calculations related to device power.|NCI|N|
C1881862|Problem associated with the connection of the device being improper or not in accordance with device specification, requirements or intended uses.|NCI|N|
C1881863|Issue associated with failure of device to discharge its load (e.g., surgical stapler failed to partially or completely deploy its staples).|NCI|N|
C1881864|The problem relates to the poor focusing of the object or the focus is on the wrong object or in the wrong area.|NCI|N|
C1881881|Problem associated with damage inflicted upon the device from water vapor or water in the immediate environment in which the device is being used.|NCI|N|
C1881882|Problem associated with an unsatisfactory humidity level in the storage or use environment which affects the device performance.|NCI|N|
C1881888|Problem associated with a solid device being transformed into a molten or liquid state.|NCI|N|
C1881905|The most recent occurrence of angina pectoris.|NCI|N|
C1881906|The most recent occurrence of heart failure.|NCI|N|
C1881930|A solid, sharply demarcated, benign or malignant nodular mass that is attached to the wall of an organ.|NCI|N|
C1881987|A pathologic finding about one or more characteristics of nasal cavity and ethmoid sinus cancer, following the rules of the TNM AJCC v6 classification system as they pertain to distant metastases.|NCI|N|
C1881988|A pathologic finding about one or more characteristics of nasal cavity and ethmoid sinus cancer, following the rules of the TNM AJCC v6 classification system as they pertain to staging of the primary tumor.|NCI|N|
C1881989|A pathologic finding about one or more characteristics of nasal cavity and ethmoid sinus cancer, following the rules of the TNM AJCC v6 classification system as they pertain to staging of regional lymph nodes.|NCI|N|
C1881990|A pathologic finding about one or more characteristics of nasal cavity and ethmoid sinus cancer, following the rules of the TNM AJCC v6 classification system.|NCI|N|
C1881991|A finding about one or more characteristics of nasal cavity and ethmoid sinus cancer, following the rules of the TNM AJCC v6 classification system.|NCI|N|
C1881992|Nasal cavity and ethmoid sinus cancer with no distant metastasis. (from AJCC 6th Ed.)|NCI|N|
C1881993|Nasal cavity and ethmoid sinus cancer with distant metastasis. (from AJCC 6th and 7th Eds.)|NCI|N|
C1881994|Nasal cavity and ethmoid sinus cancer in which distant metastasis cannot be assessed. (from AJCC 6th Ed.)|NCI|N|
C1881995|Nasal cavity and ethmoid sinus cancer with no metastasis to regional lymph nodes. (from AJCC 6th and 7th Eds.)|NCI|N|
C1881996|Nasal cavity and ethmoid sinus cancer with metastasis to a single ipsilateral lymph node, 3 cm or less in greatest dimension. (from AJCC 6th and 7th Eds.)|NCI|N|
C1881997|Nasal cavity and ethmoid sinus cancer with metastasis to a single ipsilateral lymph node, more than 3 cm, but not more than 6 cm in greatest dimension. (from AJCC 6th and 7th Eds.)|NCI|N|
C1881998|Nasal cavity and ethmoid sinus cancer with metastasis in multiple ipsilateral lymph nodes, none more than 6 cm in greatest dimension. (from AJCC 6th and 7th Eds.)|NCI|N|
C1881999|Nasal cavity and ethmoid sinus cancer with metastasis in bilateral or contralateral lymph nodes, none more than 6 cm in greatest dimension. (from AJCC 6th and 7th Eds.)|NCI|N|
C1882000|Nasal cavity and ethmoid sinus cancer with metastasis in a lymph node, more than 6 cm in greatest dimension. (from AJCC 6th and 7th Eds.)|NCI|N|
C1882001|Nasal cavity and ethmoid sinus cancer in which the regional lymph nodes cannot be assessed. (from AJCC 6th and 7th Eds.)|NCI|N|
C1882002|Nasal cavity and ethmoid sinus cancer with no evidence of a primary tumor. (from AJCC 6th and 7th Eds.)|NCI|N|
C1882003|Nasal cavity and ethmoid sinus cancer with tumor restricted to any one subsite, with or without bony invasion. (from AJCC 6th and 7th Eds.)|NCI|N|
C1882004|Nasal cavity and ethmoid sinus cancer with tumor invading two subsites in a single region or extending to involve an adjacent region within the nasoethmoidal complex, with or without bony invasion. (from AJCC 6th and 7th Eds.)|NCI|N|
C1882005|Nasal cavity and ethmoid sinus cancer with tumor invading the medial wall or floor of the orbit, maxillary sinus, palate, or cribriform plate. (from AJCC 6th and 7th Eds.)|NCI|N|
C1882006|Nasal cavity and ethmoid sinus cancer with tumor invading any of the following: anterior orbital contents, skin of nose or cheek, minimal extension to anterior cranial fossa, pterygoid plates, sphenoid or frontal sinuses. (from AJCC 6th Ed.)|NCI|N|
C1882007|Nasal cavity and ethmoid sinus cancer with tumor invading any of the following: orbital apex, dura, brain, middle cranial fossa, cranial nerves other than the maxillary division of the trigeminal nerve, nasopharynx, or clivus. (from AJCC 6th Ed.)|NCI|N|
C1882008|Nasal cavity and ethmoid sinus cancer in which the primary tumor cannot be assessed. (from AJCC 6th and 7th Eds.)|NCI|N|
C1882009|Nasal cavity and ethmoid sinus cancer with a finding of carcinoma in situ. (from AJCC 6th and 7th Eds.)|NCI|N|
C1882011|A finding about one or more characteristics of nasal cavity and paranasal sinus cancer, following the rules of the TNM AJCC v6 classification system.|NCI|N|
C1882012|A pathologic finding about one or more characteristics of nasopharyngeal cancer, following the rules of the TNM AJCC v6 classification system as they pertain to distant metastases.|NCI|N|
C1882013|A pathologic finding about one or more characteristics of nasopharyngeal cancer, following the rules of the TNM AJCC v6 classification system as they pertain to staging of the primary tumor.|NCI|N|
C1882014|A pathologic finding about one or more characteristics of nasopharyngeal cancer, following the rules of the TNM AJCC v6 classification system as they pertain to staging of regional lymph nodes.|NCI|N|
C1882015|A pathologic finding about one or more characteristics of nasopharyngeal cancer, following the rules of the TNM AJCC v6 classification system.|NCI|N|
C1882016|A finding about one or more characteristics of nasopharyngeal cancer, following the rules of the TNM AJCC v6 classification system.|NCI|N|
C1882017|Nasopharyngeal cancer with no distant metastasis. (from AJCC 6th Ed.)|NCI|N|
C1882018|Nasopharyngeal cancer with distant metastasis. (from AJCC 6th and 7th Eds.)|NCI|N|
C1882019|Nasopharyngeal cancer in which distant metastasis cannot be assessed. (from AJCC 6th Ed.)|NCI|N|
C1882020|Nasopharyngeal cancer with no metastasis to regional lymph nodes. (from AJCC 6th and 7th Eds.)|NCI|N|
C1882021|Nasopharyngeal cancer with unilateral metastasis to one or more lymph nodes, 6 cm or less in greatest dimension, above the supraclavicular fossa. Midline nodes are considered ipsilateral nodes. (from AJCC 6th Ed.)|NCI|N|
C1882022|Nasopharyngeal cancer with bilateral metastasis to one or more lymph nodes, 6 cm or less in greatest dimension, above the supraclavicular fossa. Midline nodes are considered ipsilateral nodes. (from AJCC 6th Ed.)|NCI|N|
C1882023|Nasopharyngeal cancer with metastasis to one or more lymph nodes greater than 6 cm and/or to lymph nodes which are whole or in part in the supraclavicular fossa. (from AJCC 6th Ed.)|NCI|N|
C1882024|Nasopharyngeal cancer with metastasis to one or more lymph nodes greater than 6 cm in greatest dimension. (from AJCC 6th and 7th Eds.)|NCI|N|
C1882025|Nasopharyngeal cancer with metastasis to lymph nodes which are whole or in part in the supraclavicular fossa. This includes caudal portions of Levels IV and V lymph nodes. All cases with lymph nodes (whole or in part) in the supraclavicular fossa are considered N3b. (from AJCC 6th Ed.)|NCI|N|
C1882026|Nasopharyngeal cancer in which the regional lymph nodes cannot be assessed. (from AJCC 6th and 7th Eds.)|NCI|N|
C1882027|Nasopharyngeal cancer with no evidence of a primary tumor. (from AJCC 6th and 7th Eds.)|NCI|N|
C1882028|Nasopharyngeal cancer with tumor confined to the nasopharynx. (from AJCC 6th Ed.)|NCI|N|
C1882029|Nasopharyngeal cancer with tumor extending into the soft tissue. (from AJCC 6th Ed.)|NCI|N|
C1882030|Nasopharyngeal cancer with tumor extending into the oropharynx and/or nasal cavity without parapharyngeal extension. (from AJCC 6th Ed.)|NCI|N|
C1882031|Nasopharyngeal cancer with parapharyngeal extension. Parapharyngeal extension denotes posterolateral infiltration of tumor beyond the pharyngobasilar fascia. (from AJCC 6th Ed.)|NCI|N|
C1882032|Nasopharyngeal cancer with tumor involving bony structures and/or paranasal sinuses. (from AJCC 6th Ed.)|NCI|N|
C1882033|Nasopharyngeal cancer with intracranial extension and /or involvement of cranial nerves, infratemporal fossa, hypopharynx, orbit, or masticator space. (from AJCC 6th Ed.)|NCI|N|
C1882034|Nasopharyngeal cancer in which the primary tumor cannot be assessed. (from AJCC 6th and 7th Eds.)|NCI|N|
C1882035|Nasopharyngeal cancer with a finding of carcinoma in situ. (from AJCC 6th and 7th Eds.)|NCI|N|
C1882038|Problem associated with material damage to a surface, usually involving progressive loss or displacement of material, due to relative motion between that surface and a contacting substance or substances.|NCI|N|
C1882062|A broad classification for disorders in which the development of neoplasms typically occur in association with a characteristic set of signs or symptoms. These disorders may be inherited or acquired.|NCI|N|
C1882073|An immunophenotypic test result indicating positive staining of neoplastic cells for neuron-specific enolase.|NCI|N|
C1882075|A genetic disorder characterized by defective polymorphonuclear cell actin function, resulting in impaired granulocyte motility.|NCI|N|
C1882078|An absolute neutrophil count (ANC) of 500 or more (500 or more neutrophils in a cubic millimeter of blood) for 3 days in a row is a sign of engraftment. Neutrophil engraftment can occur as early as 10 days after transplant. About 20 days is more common for patients who receive marrow or peripheral (circulating) blood cells. For patients who receive cord blood, the average time to neutrophil engraftment is between 21 and 35 days.|NCI|N|
C1882081|A rare variant of cutaneous melanoma occurring mostly in adults in their fifth decade. Morphologically it resembles an ordinary compound or dermal nevus.|NCI|N|
C1882083|A finding associated with a patient based on the functional classification developed by the New York Heart Association (NYHA), for categorizing patients with defined or presumed cardiac disease. The classification system is based on the ability, or lack thereof, to engage in physical activity. The classification system comprises four classes, though NYHA Class III and Class IV are often aggregated for the purpose of outcomes analysis.|NCI|N|
C1882084|A finding associated with a patient with defined or presumed cardiac disease without limitations of physical activity. Ordinary physical activity does not cause undue fatigue, palpitation, or dyspnea. (from The Criteria Committee of the New York Heart Association. Nomenclature and Criteria for Diagnosis of Diseases of the Heart and Great Vessels. 9th ed. Boston, Mass: Little, Brown & Co; 1994:253-256.)|NCI|N|
C1882085|A finding associated with a patient with defined or presumed cardiac disease with slight limitation of physical activity. They are comfortable at rest. Ordinary physical activity results in fatigue, palpitation, or dyspnea. (from The Criteria Committee of the New York Heart Association. Nomenclature and Criteria for Diagnosis of Diseases of the Heart and Great Vessels. 9th ed. Boston, Mass: Little, Brown & Co; 1994:253-256.)|NCI|N|
C1882086|A finding associated with a patient with defined or presumed cardiac disease with marked limitation of physical activity. They are comfortable at rest. Less than ordinary activity causes fatigue, palpitation, or dyspnea. (from The Criteria Committee of the New York Heart Association. Nomenclature and Criteria for Diagnosis of Diseases of the Heart and Great Vessels. 9th ed. Boston, Mass: Little, Brown & Co; 1994:253-256.)|NCI|N|
C1882087|A finding associated with a patient with defined or presumed cardiac disease with inability to carry on any physical activity without discomfort. Symptoms are present even at rest or minimal exertion. (from The Criteria Committee of the New York Heart Association. Nomenclature and Criteria for Diagnosis of Diseases of the Heart and Great Vessels. 9th ed. Boston, Mass: Little, Brown & Co; 1994:253-256.)|NCI|N|
C1882089|A device problem is not adequately described by any other term. Note: this code must not be used unless there is no other feasible code.|NCI|N|
C1882090|Problem associated with the absence of display or image.|NCI|N|
C1882091|The device that does not have a fail-safe mechanism, although such mechanism would be required for its appropriate and/or safe functioning.|NCI|N|
C1882092|Problem arising from the device failing to deliver the specified liquid or gas.|NCI|N|
C1882094|Problem associated with no measurement outcome, value or data obtained from the device.|NCI|N|
C1882095|Unintended complete loss of pressure, compromising the device''s intended function.|NCI|N|
C1882099|Problem associated with the device ceasing to provide audible prompts.|NCI|N|
C1882103|An acquired non-neoplastic disorder characterized by marked reduction or absence of megakaryocytes and thrombocytopenia.|NCI|N|
C1882107|A disorder that affects the small or large intestine and is non-neoplastic in nature. Representative examples include acute appendicitis, colitis, and inflammatory bowel disease.|NCI|N|
C1882108|A non-neoplastic disorder that affects the stomach. Representative examples include gastritis and ulcer.|NCI|N|
C1882110|An abnormal tissue change in a tooth that does not involve caries.|NCI|N|
C1882112|An electrocardiographic finding of a widened QRS duration typically greater than 110 ms which does not meet the morphologic criteria for any of the standard bundle branch or fascicular block patterns. (CDISC)|NCI|N|
C1882113|Problem associated with the device that does not meet the specifications or requirements for which it was manufactured (e.g. materials, parts, manufacturing process).|NCI|N|
C1882136|Problem related to an obstruction or blockage within the device component (e.g. tube, opening, pipe) that results in restriction of flow.|NCI|N|
C1882149|The beginning of the experience of the symptom complex of angina pectoris.|NCI|N|
C1882150|Problem associated with an undesirable opaqueness or cloudiness.|NCI|N|
C1882152|Problem associated with malfunction of the computer operating system as opposed to an application software problem.|NCI|N|
C1882153|Problem associated with replacing an older operating system to an up-to-date operating system.|NCI|N|
C1882156|Problem associated with being off-center of optical lenses.|NCI|N|
C1882157|Problem associated with an undesired change of color.|NCI|N|
C1882158|Problem associated with an optical defect in an image-forming system whereby the image is not the shape of an ideal image of the object.|NCI|N|
C1882160|Problem associated with the blocking of optical devices, e.g. visual pathways.|NCI|N|
C1882171|A pathologic finding about one or more characteristics of oropharyngeal cancer, following the rules of the TNM AJCC v6 classification system as they pertain to distant metastases.|NCI|N|
C1882172|A pathologic finding about one or more characteristics of oropharyngeal cancer, following the rules of the TNM AJCC v6 classification system as they pertain to staging of the primary tumor.|NCI|N|
C1882173|A pathologic finding about one or more characteristics of oropharyngeal cancer, following the rules of the TNM AJCC v6 classification system as they pertain to staging of regional lymph nodes.|NCI|N|
C1882174|A pathologic finding about one or more characteristics of oropharyngeal cancer, following the rules of the TNM AJCC v6 classification system.|NCI|N|
C1882175|A finding about one or more characteristics of oropharyngeal cancer, following the rules of the TNM AJCC v6 classification system.|NCI|N|
C1882176|Oropharyngeal cancer with no distant metastasis. (from AJCC 6th Ed.)|NCI|N|
C1882177|Oropharyngeal cancer with distant metastasis. (from AJCC 6th and 7th Eds.)|NCI|N|
C1882178|Oropharyngeal cancer in which distant metastasis cannot be assessed. (from AJCC 6th Ed.)|NCI|N|
C1882179|Oropharyngeal cancer with no metastasis to regional lymph nodes. (from AJCC 6th and 7th Eds.)|NCI|N|
C1882180|Oropharyngeal cancer with metastasis to a single ipsilateral lymph node, 3 cm or less in greatest dimension. (from AJCC 6th and 7th Eds.)|NCI|N|
C1882181|Oropharyngeal cancer with metastasis to a single ipsilateral lymph node, more than 3 cm, but not more than 6 cm in greatest dimension. (from AJCC 6th and 7th Eds.)|NCI|N|
C1882182|Oropharyngeal cancer with metastasis in two or more ipsilateral nodes, none more than 6 cm in greatest dimension. (from AJCC 6th and 7th Eds.)|NCI|N|
C1882183|Oropharyngeal cancer with metastasis in bilateral or contralateral lymph nodes, none more than 6 cm in greatest dimension. (from AJCC 6th and 7th Eds.)|NCI|N|
C1882184|Oropharyngeal cancer with metastasis to one or more lymph nodes, more than 6 cm in greatest dimension. (from AJCC 6th Ed.)|NCI|N|
C1882185|Oropharyngeal cancer in which the regional lymph nodes cannot be assessed. (from AJCC 6th and 7th Eds.)|NCI|N|
C1882186|Oropharyngeal cancer with no evidence of a primary tumor. (from AJCC 6th and 7th Eds.)|NCI|N|
C1882187|Oropharyngeal cancer with tumor size 2 centimeters or less in greatest dimension. (from AJCC 6th and 7th Eds.)|NCI|N|
C1882188|Oropharyngeal cancer with tumor size more than 2 centimeters, but not more than 4 centimeters in greatest dimension. (from AJCC 6th and 7th Eds.)|NCI|N|
C1882189|Oropharyngeal cancer with tumor size more than 4 centimeters in greatest dimension. (from AJCC 6th Ed.)|NCI|N|
C1882190|Oropharyngeal cancer with tumor invading the larynx, deep/extrinsic muscle of tongue, medial pterygoid muscles, hard palate, or mandible. (from AJCC 6th Ed.)|NCI|N|
C1882191|Oropharyngeal cancer with tumor invading the lateral pterygoid muscle, pterygoid plates, lateral nasopharynx, or skull base or encases carotid artery. (from AJCC 6th Ed.)|NCI|N|
C1882192|Oropharyngeal cancer in which the primary tumor cannot be assessed. (from AJCC 6th and 7th Eds.)|NCI|N|
C1882193|Oropharyngeal cancer with a finding of carcinoma in situ. (from AJCC 6th and 7th Eds.)|NCI|N|
C1882196|Problem associated with interconnection between the bone tissue and the implanted device.|NCI|N|
C1882198|A benign neoplasm of the kidney occurring in infants. It develops as an intracalyceal mass and is characterized by the presence of osteoid formation, osteoblast-like cells, and spindle cells.|NCI|N|
C1882200|A clinical finding about one or more characteristics of ovarian cancer, following the rules of the TNM AJCC v6 classification system. TNM clinical findings are based on information obtained prior to the first definitive treatment through physical examination, diagnostic imaging, biopsy or laboratory testing.|NCI|N|
C1882201|A pathologic finding about one or more characteristics of ovarian cancer, following the rules of the TNM AJCC v6 classification system as they pertain to distant metastases. TNM pathologic distant metastasis findings are based on clinical findings supplemented by histopathologic examination of one or more tissue specimens acquired during surgery.|NCI|N|
C1882202|A pathologic finding about one or more characteristics of ovarian cancer, following the rules of the TNM AJCC v6 classification system as they pertain to staging of the primary tumor. TNM pathologic primary tumor findings are based on clinical findings supplemented by histopathologic examination of one or more tissue specimens acquired during surgery.|NCI|N|
C1882203|A pathologic finding about one or more characteristics of ovarian cancer, following the rules of the TNM AJCC v6 classification system as they pertain to staging of regional lymph nodes.|NCI|N|
C1882204|A pathologic finding about one or more characteristics of ovarian cancer, following the rules of the TNM AJCC v6 classification system.|NCI|N|
C1882205|A finding about one or more characteristics of ovarian cancer, following the rules of the TNM AJCC v6 classification system.|NCI|N|
C1882206|Ovarian cancer with no evidence of distant metastasis. (from AJCC 6th Ed.)|NCI|N|
C1882207|Ovarian cancer with distant metastasis, excluding peritoneal metastasis. (from AJCC 6th Ed.)|NCI|N|
C1882208|Ovarian cancer in which distant metastasis cannot be assessed. (from AJCC 6th Ed.)|NCI|N|
C1882209|Ovarian cancer without involvement of regional lymph nodes. (from AJCC 6th Ed.)|NCI|N|
C1882210|Ovarian cancer with metastasis to one or more regional lymph nodes. (from AJCC 6th Ed.)|NCI|N|
C1882211|Ovarian cancer in which the regional lymph nodes cannot be assessed. (from AJCC 6th Ed.)|NCI|N|
C1882212|Ovarian cancer with no evidence of a primary tumor. (from AJCC 6th Ed.)|NCI|N|
C1882213|Ovarian cancer with tumor confined to one or both ovaries. (from AJCC 6th Ed.)|NCI|N|
C1882214|Ovarian cancer with tumor in one ovary with capsule intact, no tumor on ovarian surface and no malignant cells in either ascites or peritoneal washings. The presence of ascites does not affect staging unless malignant cells are present. (from AJCC 6th Ed.)|NCI|N|
C1882215|Ovarian cancer with tumor in both ovaries with capsule intact, no tumor on ovarian surface and no malignant cells in either ascites or peritoneal washings. The presence of ascites does not affect staging unless malignant cells are present. (from AJCC 6th Ed.)|NCI|N|
C1882216|Ovarian cancer involving one or both ovaries with either a ruptured capsule, or tumor on the ovarian surface, or presence of malignant cells in either ascites or peritoneal washings. (from AJCC 6th Ed.)|NCI|N|
C1882217|Ovarian cancer involving one or both ovaries with pelvic extension and/or implants. (from AJCC 6th Ed.)|NCI|N|
C1882218|Ovarian cancer involving one or both ovaries with extension or implants on uterus and/or fallopian tubes and without malignant cells in ascites or peritoneal washings. (from AJCC 6th Ed.)|NCI|N|
C1882219|Ovarian cancer involving one or both ovaries with extension or implants on pelvic tissues other than the uterus or fallopian tubes, and without malignant cells in ascites or peritoneal washings. (from AJCC 6th Ed.)|NCI|N|
C1882220|Ovarian cancer involving one or both ovaries with extension or implants on the uterus and/or fallopian tubes, or other pelvic tissues, with malignant cells in either ascites or peritoneal washings. (from AJCC 6th Ed.)|NCI|N|
C1882221|Ovarian cancer involving one or both ovaries with microscopic or macroscopic peritoneal metastasis beyond the pelvis. (from ACJCC 6th Ed.)|NCI|N|
C1882222|Ovarian cancer involving one or both ovaries with microscopically confirmed peritoneal metastasis beyond the pelvis. (from AJCC 6th Ed.)|NCI|N|
C1882223|Ovarian cancer involving one or both ovaries with macroscopic peritoneal metastasis beyond the pelvis, with tumor size of 2 cm or less in greatest dimension. (from AJCC 6th Ed.)|NCI|N|
C1882224|Ovarian cancer involving one or both ovaries with macroscopic peritoneal metastasis beyond the pelvis, with tumor size of more than 2 cm in greatest dimension. (from AJCC 6th Ed.)|NCI|N|
C1882225|Ovarian cancer in which the primary tumor cannot be assessed. (from AJCC 6th Ed.)|NCI|N|
C1882229|A sex cord-stromal tumor of the ovary. Thecomas range from small tumors to large solid or solid-cystic masses of up to 15 cm. They are unilateral in over 90 percent of cases and are rarely malignant. Thecomas are stromal tumors made up of cells that resemble theca cells, lutein cells and fibroblasts. They are traditionally classified within the sex cord-stromal tumor category of ovarian tumor types.|HPO|N|
C1882230|Excessive filling of a device. For complete failure to fill use inability to auto-fill. For insufficient filling use Short Fill. For inconsistent filling - use Volume Accuracy Problem.|NCI|N|
C1882231|Problem associated with the device producing high temperatures, such that its operation is compromised or harm is caused (e.g. overheating that produces melting of components or automatic shutdown).|NCI|N|
C1882232|Problem associated with a delivery overdose of therapeutic agents, such as drugs or fluids being delivered into a device or a patient.|NCI|N|
C1882233|A necrotizing arteritis that exhibits characteristic features of several distinct vascular disorders.|NCI|N|
C1882234|Problem related to failure of the device to properly filter cardiac signals resulting in inappropriate device response.|NCI|N|
C1882293|An electrocardiographic finding of the sudden onset of transient AV block, which is often associated with preexisting conduction disorders. (CDISC)|NCI|N|
C1882299|Substances that consist of separate particles that are introduced by the device during use.|NCI|N|
C1882306|Death of a fetus, neonate, or patient 20 years or younger.|NCI|N|
C1882345|Problem associated with the escape of blood around a heart valve, particularly around its leaflets.|NCI|N|
C1882346|A morphologic finding indicating the presence of a non-neoplastic or neoplastic lymphocytic infiltrate surrounding vessels.|NCI|N|
C1882356|A finding about one or more characteristics of pharyngeal cancer, following the rules of the TNM AJCC v6 classification system.|NCI|N|
C1882401|Problem associated with the corrosion of a material''s surface, confined to a point or small area that takes the form of cavities.|NCI|N|
C1882407|A platelet count of 20,000 to 50,000 (platelets per microliter of blood) is a sign of platelet engraftment. For patients who receive marrow or peripheral blood cells, platelet engraftment often happens at the same time or a little bit after neutrophil engraftment. For patients who receive cord blood, it may be 8 weeks or longer after transplant before platelet engraftment occurs.|NCI|N|
C1882410|Problem associated with a pocket of skin in which the pulse generator is housed.|NCI|N|
C1882414|Juvenile rheumatoid arthritis affecting multiple joints, usually symmetrically. It may be associated with low grade fever, anemia, and weight loss. Patients usually test negative for rheumatoid factor.|NCI|N|
C1882425|Inadequate quality of an image or any visual representation displayed by the device, or output from the device.|NCI|N|
C1882443|Problem associated with the separation of solid particles from a liquid as the result of a chemical or physical change.|NCI|N|
C1882448|Problems with the early or unexpected activation of the elective replacement indicator.|NCI|N|
C1882450|Problems with the activation of a protective measure indicator earlier than expected.|NCI|N|
C1882451|Battery discharging earlier than expected.|NCI|N|
C1882452|Problem associated with early and unexpected activation of the device.|NCI|N|
C1882466|Problem associated with the use of the device in terms of nonconforming to that device''s intended use, specifications, procedure and process or service instructions and information provided by the device manufacturers.|NCI|N|
C1882485|A morphologic finding that indicates the presence of a substantial neoplastic cellular proliferation within a ductal structure.|NCI|N|
C1882488|Problem with visual messages which continue to be displayed on/by the device after the appropriate action has been taken.|NCI|N|
C1882506|Problem associated with pump performance deviating from specifications in a way to compromise flow or infusion.|NCI|N|
C1882507|Unexpected /unintended cessation of pump.|NCI|N|
C1882532|An electrocardiographic finding in which the R wave of a premature ventricular complex occurs on top of the T wave of the preceding beat. (CDISC)|NCI|N|
C1882535|Problem associated with the device causing unintended therapeutic action to an area of the body other than the intended area.|NCI|N|
C1882537|Escape of radiation (energy in the form of waves or subatomic particles, especially those that cause ionization) through containment structures, leading to unintended exposure.|NCI|N|
C1882541|Problem associated with the degradation of the reception of a wanted signal caused by RF disturbance.|NCI|N|
C1882815|A benign epithelial neoplasm arising from the pars distalis of the anterior pituitary gland.|NCI|N|
C1882816|A malignant epithelial neoplasm arising from the pars distalis of the anterior pituitary gland.|NCI|N|
C1882818|A benign epithelial neoplasm arising from the pars intermedia of the anterior pituitary gland.|NCI|N|
C1882915|A rare, invasive rectal adenocarcinoma characterized by the presence of sheets of malignant epithelial cells with vesicular nuclei, prominent nucleoli, and abundant eosinophilic cytoplasm. It usually has a favorable prognosis.|NCI|N|
C1882916|An aggressive, high-grade, and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the rectum. It is characterized by the presence of malignant small cells.|NCI|N|
C1882917|Recurrence of symptoms of a disease, at a site different and away from the original site.|NCI|N|
C1882918|Recurrence of symptoms of a disease at the original site.|NCI|N|
C1882919|Problem associated with partial backflow, compromising the device''s flow output.|NCI|N|
C1882923|The device appears to elicit undesired response in the patient to the presence of an implanted or invasive device, without inherent device failure, e.g. fibrous encapsulation, or inflammation of the tissue around the device, or extrusion of the device.|NCI|N|
C1882929|Diffuse large B-cell lymphoma that affects the kidney.|NCI|N|
C1882936|Problem associated with the decontamination process not adequately removing unwanted visible soil, foreign material, or organism deposits.|NCI|N|
C1882938|Problem associated with flow rate. Flow volume delivered over time is not reaching intended flow rate.|NCI|N|
C1882941|Problem associated with a nonconforming end result, data, or test results provided by the device to its performance specifications.|NCI|N|
C1882942|Cardiac arrest that is reversed, usually by CPR and/or defibrillation or cardioversion, or cardiac pacing.|NCI|N|
C1882952|Problem associated with an undesired material change in physical property, characterized by rigidity (it resists deformation in response to an applied force).|NCI|N|
C1882970|An adenocarcinoma that arises from the salivary glands. It exhibits ductal differentiation but lacks any of the morphologic features that characterize the other well-defined primary adenocarcinomas of the salivary glands.|NCI|N|
C1882971|A carcinoma that arises from the salivary glands, most often the minor salivary glands. It is characterized by the presence of a monomorphic population of malignant epithelial cells with clear cytoplasm and the absence of morphologic features that define other primary neoplasms of the salivary glands.|NCI|N|
C1882972|A rare, low-grade adenocarcinoma that arises from the salivary glands. It is characterized by the presence of cystic structures lined by ductal cells which are arranged in cribriform patterns. Adjacent ducts show intraductal proliferation.|NCI|N|
C1882973|A rare adenocarcinoma that arises from the salivary glands, most frequently the soft palate and the sublingual gland. It is characterized by the presence of large pools of extracellular mucin in which clusters of malignant epithelial cells are found. Patients usually present with a slow growing mass. It tends to recur locally and metastasize to regional lymph nodes.|NCI|N|
C1882974|A high grade adenocarcinoma that arises from the salivary glands. The vast majority of cases have been described in the parotid gland. It is characterized by the presence of malignant oncocytes. It recurs and metastasizes to regional or distant anatomic sites.|NCI|N|
C1882976|A histopathologic finding characterized by the presence of malignant cells of connective tissue origin in a tumor sample. Examples of connective tissue cells that can undergo malignant transformation include smooth and skeletal muscle cells, adipose tissue cells, osteocytes, and chondrocytes.|NCI|N|
C1882981|Problem associated with an undesirable shallow cut or narrow groove in the surface of the device materials.|NCI|N|
C1882989|Recurrent dental caries involving a discrete area of a tooth including an area adjacent to an existing restoration or sealant.|SNOMEDCT_US|N|
C1882995|Problem associated with the unintended activation of the device, or a device having been unexpectedly turned on during use.|NCI|N|
C1883018|Life-threatening anemia associated with a high risk of infection or bleeding.|NCI|N|
C1883019|An inherited, severe immunodeficiency disorder characterized by abnormalities in the development and function of T cell immunity. The peripheral T lymphocytes are absent or in very low counts. The B lymphocyte counts are normal.|NCI|N|
C1883020|An inherited, severe immunodeficiency disorder characterized by abnormalities in the development and function of T and B cell immunity. The peripheral T and B lymphocytes are absent or in very low counts.|NCI|N|
C1883025|Problem associated with the device inability to act as a barrier for absorption of radiation energy in X-rays, gamma rays, etc.|NCI|N|
C1883026|Unintended electric shock from patient leads.|NCI|N|
C1883027|Insufficient filling of a device. For complete failure to fill use inability to auto-fill. For insufficient filling use short fill. For inconsistent filling - use Volume Accuracy Problem.|NCI|N|
C1883029|An invasive lobular carcinoma characterized by the presence of malignant epithelial cells with large intracytoplasmic lumina that cause displacement of the nuclei towards one pole of the cells.|NCI|N|
C1883030|A rare variant of cutaneous melanoma, characterized by the presence of malignant cells with signet-ring morphology.|NCI|N|
C1883035|A morphologic finding indicating the presence of individual necrotic cells surrounded by viable cells in a tissue sample.|NCI|N|
C1883040|A skin carcinoma displaying cytological characteristics intermediate to nodular basal cell carcinoma and squamous cell carcinoma.|NCI|N|
C1883041|Problem associated with the device moving or sliding from the intended position.|NCI|N|
C1883045|A congenital nevus of small size, with a diameter smaller than 1.5 cm. It presents as a macular, papular or plaque-like lesion.|NCI|N|
C1883049|Indicates a person who is known to have smoked but whose current smoking status is unknown.|NCI|N|
C1883062|Problem associated with undesired damage or breakage in a solder joint of materials used in the device construction.|NCI|N|
C1883065|Indicates that a person has attended college but that they did not receive any degree.|NCI|N|
C1883069|Problem associated with a flash of light related to an electrical discharge into a normally non conductive medium, such as air. Not associated with a discharge between two conductive surfaces.|NCI|N|
C1883077|A morphologic finding indicating the transformation of non-spindle cells to spindle-shaped cells.|NCI|N|
C1883165|The maximum compliance (mobility) of the middle ear system (i.e., the greatest amount of acoustic energy absorbed by the middle ear system (the vertical peak of the tympanogram tracing).|NCI|N|
C1883175|Problem associated with an increase or elongation in a materials'' dimension.|NCI|N|
C1883177|A rare, benign sex cord-stromal tumor of the ovary characterized by the presence of a fibrothecomatous stroma and scattered sex cord elements. Although it is usually hormonally inactive, cases associated with endometrial hyperplasia or adenocarcinoma have been reported.|NCI|N|
C1883179|A pathologic finding about one or more characteristics of subglottic cancer, following the rules of the TNM AJCC v6 classification system as they pertain to distant metastases.|NCI|N|
C1883180|A pathologic finding about one or more characteristics of subglottic cancer, following the rules of the TNM AJCC v6 classification system as they pertain to staging of the primary tumor.|NCI|N|
C1883181|A pathologic finding about one or more characteristics of subglottic cancer, following the rules of the TNM AJCC v6 classification system as they pertain to staging of regional lymph nodes.|NCI|N|
C1883182|A pathologic finding about one or more characteristics of subglottic cancer, following the rules of the TNM AJCC v6 classification system.|NCI|N|
C1883183|A finding about one or more characteristics of subglottic cancer, following the rules of the TNM AJCC v6 classification system.|NCI|N|
C1883184|Subglottic cancer with no distant metastasis. (from AJCC 6th Ed.)|NCI|N|
C1883185|Subglottic cancer with distant metastasis. (from AJCC 6th and 7th Eds.)|NCI|N|
C1883186|Subglottic cancer in which distant metastasis cannot be assessed. (from AJCC 6th Ed.)|NCI|N|
C1883187|Subglottic cancer with no metastasis to regional lymph nodes. (from AJCC 6th and 7th Eds.)|NCI|N|
C1883188|Subglottic cancer with metastasis to a single ipsilateral lymph node, 3 cm or less in greatest dimension. (from AJCC 6th and 7th Eds.)|NCI|N|
C1883189|Subglottic cancer with metastasis to a single ipsilateral lymph node, more than 3 cm, but not more than 6 cm in greatest dimension. (from AJCC 6th and 7th Eds.)|NCI|N|
C1883190|Subglottic cancer with metastasis in two or more ipsilateral nodes, none more than 6 cm in greatest dimension. (from AJCC 6th and 7th Eds.)|NCI|N|
C1883191|Subglottic cancer with metastasis in bilateral or contralateral lymph nodes, none more than 6 cm in greatest dimension. (from AJCC 6th and 7th Eds.)|NCI|N|
C1883192|Subglottic cancer with metastasis in a lymph node, more than 6 cm in greatest dimension. (from AJCC 6th and 7th Eds.)|NCI|N|
C1883193|Subglottic cancer in which the regional lymph nodes cannot be assessed. (from AJCC 6th and 7th Eds.)|NCI|N|
C1883194|Subglottic cancer with no evidence of a primary tumor. (from AJCC 6th and 7th Eds.)|NCI|N|
C1883195|Subglottic cancer in which the tumor is limited to the subglottis. (from AJCC 6th and 7th Eds.)|NCI|N|
C1883196|Subglottic cancer with tumor extending to vocal cord(s) with normal or impaired mobility. (from AJCC 6th and 7th Eds.)|NCI|N|
C1883197|Subglottic cancer with tumor limited to the larynx with vocal cord fixation. (from AJCC 6th and 7th Eds.)|NCI|N|
C1883198|Subglottic cancer with tumor invading cricoid or thyroid cartilage and/or invading tissues behind the larynx (e.g. trachea, soft tissues of neck including deep extrinsic muscles of the tongue, strap muscles, thyroid, or esophagus). (from AJCC 6th Ed.)|NCI|N|
C1883199|Subglottic cancer with tumor invading prevertebral space, encasing carotid artery, or invading mediastinal structures. (from AJCC 6th Ed.)|NCI|N|
C1883200|Subglottic cancer in which the primary tumor cannot be assessed. (from AJCC 6th and 7th Eds.)|NCI|N|
C1883201|Subglottic cancer with a finding of carcinoma in situ. (from AJCC 6th and 7th Eds.)|NCI|N|
C1883213|Problem associated with suction equipment, which may be a manual, electrical, vacuum or pressure source operated to evacuate and remove undesired substances (air, gas, fluid, or particulates) via tubing and collection bag.|NCI|N|
C1883226|A pathologic finding about one or more characteristics of supraglottic cancer, following the rules of the TNM AJCC v6 classification system as they pertain to distant metastases.|NCI|N|
C1883227|A pathologic finding about one or more characteristics of supraglottic cancer, following the rules of the TNM AJCC v6 classification system as they pertain to staging of the primary tumor.|NCI|N|
C1883228|A pathologic finding about one or more characteristics of supraglottic cancer, following the rules of the TNM AJCC v6 classification system as they pertain to staging of regional lymph nodes.|NCI|N|
C1883229|A pathologic finding about one or more characteristics of subglottic cancer, following the rules of the TNM AJCC v6 classification system.|NCI|N|
C1883230|A finding about one or more characteristics of supraglottic cancer, following the rules of the TNM AJCC v6 classification system.|NCI|N|
C1883231|Supraglottic cancer with no distant metastasis. (from AJCC 6th Ed.)|NCI|N|
C1883232|Supraglottic cancer with distant metastasis. (from AJCC 6th and 7th Eds.)|NCI|N|
C1883233|Supraglottic cancer in which distant metastasis cannot be assessed. (from AJCC 6th Ed.)|NCI|N|
C1883234|Supraglottic cancer with no metastasis to regional lymph nodes. (from AJCC 6th and 7th Eds.)|NCI|N|
C1883235|Supraglottic cancer with metastasis to a single ipsilateral lymph node, 3 cm or less in greatest dimension. (from AJCC 6th and 7th Eds.)|NCI|N|
C1883236|Supraglottic cancer with metastasis to a single ipsilateral lymph node, more than 3 cm, but not more than 6 cm in greatest dimension. (from AJCC 6th and 7th Eds.)|NCI|N|
C1883237|Supraglottic cancer with metastasis in two or more ipsilateral nodes, none more than 6 cm in greatest dimension. (from AJCC 6th and 7th Eds.)|NCI|N|
C1883238|Supraglottic cancer with metastasis in bilateral or contralateral lymph nodes, none more than 6 cm in greatest dimension. (from AJCC 6th and 7th Eds.)|NCI|N|
C1883239|Supraglottic cancer with metastasis in a lymph node, more than 6 cm in greatest dimension. (from AJCC 6th and 7th Eds.)|NCI|N|
C1883240|Supraglottic cancer in which the regional lymph nodes cannot be assessed. (from AJCC 6th and 7th Eds.)|NCI|N|
C1883241|Supraglottic cancer with no evidence of a primary tumor. (from AJCC 6th and 7th Eds.)|NCI|N|
C1883242|Supraglottic cancer with tumor limited to 1 subsite of supraglottis with normal vocal cord mobility. (from AJCC 6th and 7th Eds.)|NCI|N|
C1883243|Supraglottic cancer with tumor invading the mucosa of more than 1 adjacent subsite of supraglottis or glottis or region outside the supraglottis (e.g., mucosa of base of the tongue, vallecula, medial wall of pyriform sinus) without fixation of the larynx. (from AJCC 6th and 7th Eds.)|NCI|N|
C1883244|Supraglottic cancer with tumor limited to larynx with vocal cord fixation and/or invading any of the following: postcricoid area, pre-epiglottic tissues, paraglottic space, and/or minor thyroid cartilage erosion (e.g. inner cortex). (from AJCC 6th Ed.)|NCI|N|
C1883245|Supraglottic cancer with tumor invading through thyroid cartilage and/or invading tissue beyond the larynx (e.g. trachea, soft tissues of neck including deep extrinsic muscle of the tongue, strap muscles, thyroid, or esophagus). (from AJCC 6th Ed.)|NCI|N|
C1883246|Supraglottic cancer with tumor invading prevertebral space, encasing carotid artery, or invading mediastinal structures. (from AJCC 6th Ed.)|NCI|N|
C1883247|Supraglottic cancer in which the primary tumor cannot be assessed. (from AJCC 6th and 7th Eds.)|NCI|N|
C1883248|Supraglottic cancer with a finding of carcinoma in situ. (from AJCC 6th and 7th Eds.)|NCI|N|
C1883252|Two or more primary lesions that are diagnosed at the same time in the same patient, or soon after the diagnosis of the first primary lesion.|NCI|N|
C1883270|Problem associated with packaging damage (tear, rip or hole) prior to the use of the device.|NCI|N|
C1883274|Problem associated with variability of the transmission of telemetry signals.|NCI|N|
C1883282|A testicular seminoma characterized by the presence of uniform round germ cells with glycogen-rich cytoplasm and large nuclei, and a lymphocytic infiltrate.|NCI|N|
C1883306|Problem associated with the failure of the device to deliver the output required for treatment or identification of a disease.|NCI|N|
C1883315|A clinical finding about one or more characteristics of thyroid cancer, following the rules of the TNM AJCC v6 classification system. TNM clinical findings are based on information obtained prior to the first definitive treatment through physical examination, diagnostic imaging, biopsy or laboratory testing.|NCI|N|
C1883316|A pathologic finding about one or more characteristics of thyroid cancer, following the rules of the TNM AJCC v6 classification system as they pertain to distant metastases. TNM pathologic distant metastasis findings are based on clinical findings supplemented by histopathologic examination of one or more tissue specimens acquired during surgery.|NCI|N|
C1883317|A pathologic finding about one or more characteristics of thyroid cancer, following the rules of the TNM AJCC v6 classification system as they pertain to staging of the primary tumor. TNM pathologic primary tumor findings are based on clinical findings supplemented by histopathologic examination of one or more tissue specimens acquired during surgery.|NCI|N|
C1883318|A pathologic finding about one or more characteristics of thyroid cancer, following the rules of the TNM AJCC v6 classification system. TNM pathologic findings are based on clinical findings supplemented by histopathologic examination of one or more tissue specimens acquired during surgery.|NCI|N|
C1883319|A finding about one or more characteristics of thyroid cancer, following the rules of the TNM AJCC v6 classification system.|NCI|N|
C1883320|Thyroid cancer with no evidence of distant metastasis. (from AJCC 6th Ed.)|NCI|N|
C1883321|Thyroid cancer with distant metastasis. (from AJCC 6th and 7th Eds.)|NCI|N|
C1883322|Thyroid cancer in which the status of distant metastasis cannot be assessed. (from AJCC 6th Ed.)|NCI|N|
C1883323|Thyroid cancer with no regional lymph node metastasis. (from AJCC 6th and 7th Eds.)|NCI|N|
C1883324|Thyroid cancer with metastasis to regional lymph nodes. (from AJCC 6th and 7th Eds.)|NCI|N|
C1883325|Thyroid cancer with metastasis to pretracheal, paratracheal or prelaryngeal/Delphian lymph nodes (Level VI lymph nodes). (from AJCC 6th and 7th Eds.)|NCI|N|
C1883326|Thyroid cancer with metastasis to unilateral, bilateral or contralateral cervical or superior mediastinal lymph nodes. (from AJCC 6th Ed.)|NCI|N|
C1883327|Thyroid cancer in which regional lymph nodes cannot be assessed. (from AJCC 6th and 7th Eds.)|NCI|N|
C1883328|Thyroid cancer with no evidence of primary tumor. (from AJCC 6th and 7th Eds.).|NCI|N|
C1883329|Thyroid cancer with a tumor size of 2 cm or less in greatest dimension, and limited to the thyroid gland. (from AJCC 6th and 7th Eds.)|NCI|N|
C1883330|Thyroid cancer with a tumor size greater than 2 cm but not more than 4 cm in greatest dimension, and limited to the thyroid gland. (from AJCC 6th and 7th Eds.)|NCI|N|
C1883331|Thyroid cancer with a tumor size greater than 4 cm in greatest dimension and limited to the thyroid gland, or a tumor of any size with minimal extrathyroid extension (e.g., extension to sternothyroid muscle or perithyroid soft tissues). (from AJCC 6th and 7th Eds.)|NCI|N|
C1883332|Thyroid cancer with any size tumor extending beyond the thyroid gland capsule to invade subcutaneous soft tissues, larynx, trachea, esophagus, recurrent laryngeal nerve, prevertebral fascia, or encasing the carotid artery or mediastinal vessels. All anaplastic carcinomas are also classified as pT4, with separate subclassification. (from AJCC 6th Ed.)|NCI|N|
C1883333|Anaplastic carcinoma confined to the thyroid gland, which is surgically resectable. (AJCC 6th Ed.)|NCI|N|
C1883334|Thyroid cancer with any size tumor extending beyond the thyroid gland capsule to invade subcutaneous soft tissues, larynx, trachea, esophagus or recurrent laryngeal nerve. (from AJCC 6th Ed.)|NCI|N|
C1883335|Anaplastic carcinoma extending beyond the capsule of the thyroid gland, which is surgically unresectable. (from AJCC 6th Ed.)|NCI|N|
C1883336|Thyroid cancer with any size tumor invading the prevertebral fascia, or encasing the carotid artery or mediastinal vessels.|NCI|N|
C1883337|Thyroid cancer in which the primary tumor cannot be assessed. (from AJCC 6th and 7th Eds.)|NCI|N|
C1883338|A follicular carcinoma of the thyroid gland showing capsular invasion only.|NCI|N|
C1883403|An aggressive adenocarcinoma that arises from the sweat glands. It usually presents as a firm, erythematous nodular lesion in the axilla. Morphologically, it is characterized by the presence of tubular structures and apocrine differentiation.|NCI|N|
C1883404|A Sertoli cell tumor that arises from the ovary and is characterized by the presence of cells that are distended by the presence of intracytoplasmic lipid.|NCI|N|
C1883411|The process whereby normal tissue cells and structures are replaced by tumor cells.|NCI|N|
C1883417|Problem associated with the transfer of fluid between the blood and dialysate through the dialysis membrane due to a pressure gradient (trans-membrane pressure) existing between the blood and dialysate compartments.|NCI|N|
C1883419|The device does not provide or display a valid reading.|NCI|N|
C1883422|Problem associated with an insufficient dose of therapeutic agents, e.g., drugs or fluids being delivered into a patient under positive pressure.|NCI|N|
C1883423|Problem related to failure of the device to properly detect intrinsic cardiac activity and respond appropriately.|NCI|N|
C1883424|A usually aggressive malignant epithelial neoplasm composed of atypical cells which do not display evidence of glandular or squamous differentiation and giant cells resembling osteoclasts.|NCI|N|
C1883428|Problem associated with the device impacting with another object.|NCI|N|
C1883429|Problem associated with the device turning on when not intended.|NCI|N|
C1883430|Problem associated with unexpected discharge of the device from expected location includes but not limited to the device such as clip appliers, film cartridge, staples.|NCI|N|
C1883433|Movement of the device to an unintended location within the body.|NCI|N|
C1883435|Problem associated with any motion of the system or components that was not initiated by the user.|NCI|N|
C1883465|Indicates that a person''s smoking status is unknown.|NCI|N|
C1883466|Problem due to the device''s undesired unravelling of material (e.g. disentangled, unwound etc.).|NCI|N|
C1883467|Problem associated with the device''s loss of packaging seal.|NCI|N|
C1883468|Problem associated with the mechanical stability of a device.|NCI|N|
C1883485|Carcinofibroma of the corpus uteri is an extremely rare subtype of mixed müllerian tumor characterized by the presence of a uterine neoplasm which simuntaneously presents a malignant epithelial component (carcinomatous glands) and a benign mesenchymal component. Clinical presentation typically includes dysfunctional vaginal bleeding, abnormal vaginal discharge and/or lower abdominal pain.|ORDO|N|
C1883486|A malignant neoplasm arising from the uterine corpus. This category includes endometrial carcinoma and carcinosarcoma.|NCI|N|
C1883487|A clinical finding about one or more characteristics of uterine corpus cancer, following the rules of the TNM AJCC v6 classification system. TNM clinical findings are based on information obtained prior to the first definitive treatment through physical examination, diagnostic imaging, biopsy and laboratory testing.|NCI|N|
C1883488|A pathologic finding about one or more characteristics of uterine corpus cancer, following the rules of the TNM AJCC v6 classification system as they pertain to distant metastases. TNM pathologic distant metastasis findings are based on clinical findings supplemented by histopathologic examination of one or more tissue specimens acquired during surgery.|NCI|N|
C1883489|A pathologic finding about one or more characteristics of uterine corpus cancer, following the rules of the TNM AJCC v6 classification system as they pertain to staging of the primary tumor. TNM pathologic primary tumor findings are based on clinical findings supplemented by histopathologic examination of one or more tissue specimens acquired during surgery.|NCI|N|
C1883490|A pathologic finding about one or more characteristics of uterine corpus cancer, following the rules of the TNM AJCC v6 classification system as they pertain to staging of regional lymph nodes. TNM pathologic regional lymph nodes findings are based on clinical findings supplemented by histopathologic examination of one or more tissue specimens acquired during surgery.|NCI|N|
C1883491|A pathologic finding about one or more characteristics of uterine corpus cancer, following the rules of the TNM AJCC v6 classification system. TNM pathologic findings are based on clinical findings supplemented by histopathologic examination of one or more tissue specimens acquired during surgery.|NCI|N|
C1883493|Uterine corpus cancer in which there is no evidence of distant metastasis. (from AJCC 6th Ed.)|NCI|N|
C1883494|Uterine corpus cancer with distant metastasis, including intra-abdominal lymph nodes other than para-aortic or inguinal lymph nodes, excluding metastasis to the vagina, pelvic serosa, or adnexa. (from AJCC 6th Ed.)|NCI|N|
C1883495|Uterine corpus cancer in which distant metastasis cannot be assessed. (from AJCC 6th Ed.)|NCI|N|
C1883496|Uterine corpus cancer in which there is no evidence of regional lymph node metastasis. (from AJCC 6th Ed.)|NCI|N|
C1883497|Uterine corpus cancer with metastasis to the pelvic or para-aortic lymph nodes. (from AJCC 6th Ed.)|NCI|N|
C1883498|Uterine corpus cancer in which regional lymph nodes cannot be assessed. (from AJCC 6th Ed.)|NCI|N|
C1883499|Uterine corpus cancer in which there is no evidence of a primary tumor. (from AJCC 6th Ed.)|NCI|N|
C1883500|Uterine corpus cancer with tumor confined to the corpus uteri. (from AJCC 6th Ed.)|NCI|N|
C1883501|Uterine corpus cancer with tumor limited to the endometrium. (from AJCC 6th Ed.)|NCI|N|
C1883502|Uterine corpus cancer with tumor invasion of less than one-half of the myometrium. (from AJCC 6th Ed.)|NCI|N|
C1883503|Uterine corpus cancer with tumor invasion of one-half or more of the myometrium. (from AJCC 6th Ed.)|NCI|N|
C1883504|Uterine corpus cancer with invasion of the cervix without extension beyond the uterus. (from AJCC 6th Ed.)|NCI|N|
C1883505|Uterine corpus cancer limited to the glandular epithelium of the endocervix. (from AJCC 6th Ed.)|NCI|N|
C1883506|Uterine corpus cancer with invasion of the cervical stroma. (from AJCC 6th Ed.)|NCI|N|
C1883507|Uterine corpus cancer with local or regional involvement as defined in pT3a or pT3b. (from AJCC 6th Ed.)|NCI|N|
C1883508|Uterine corpus cancer with tumor involvement of the serosa or adnexa (either from direct extension or from metastasis), or with the presence of cancer cells in either ascites or peritoneal washings. (from AJCC 6th Ed.)|NCI|N|
C1883509|Uterine corpus cancer with tumor involvement of the vagina either from direct extension or metastasis. (from AJCC 6th Ed.)|NCI|N|
C1883510|Uterine corpus cancer with tumor invasion of the bladder mucosa or bowel mucosa. Bullous edema is not sufficient to classify a tumor as T4. (from AJCC 6th Ed.)|NCI|N|
C1883511|Uterine corpus cancer in which primary tumor cannot be assessed. (from AJCC 6th Ed.)|NCI|N|
C1883512|Uterine corpus cancer in situ. (from AJCC 6th Ed.)|NCI|N|
C1883513|A benign microacinar proliferation occurring exclusively in the area of the utricle.|NCI|N|
C1883524|Narrowing of the opening of one or more of the four valves of the heart.|NCI|N|
C1883528|Problem associated with the circulation of fresh air in the immediate atmosphere in which the device is being used.|NCI|N|
C1883531|A benign microacinar proliferation occurring exclusively in the verumontanum and adjacent posterior urethra where the ejaculatory ducts and utricle empty into the urethra. Crystalloids and intraluminal mucin are usually absent, but; intraluminal corpora amylacea are often present. The lining epithelium typically consists of bland cuboidal to columnar luminal cells with underlying basal cells.|NCI|N|
C1883532|Problem associated with the undesirable mechanical oscillation in a device.|NCI|N|
C1883544|Inconsistent filling of a device. This describes a problem which is observed to vary between overfilling and under filling, and may be intermittent. Use Overfill or Short Fill if problem is consistent.|NCI|N|
C1883554|A morphologic architectural pattern in which the tumor cells spread in a wedge-shaped pattern.|NCI|N|
C1883558|A lesion composed of tumor cells invading a wide area beyond the immediately surrounding tissues.|NCI|N|
C1883613|Indicates that 10th grade is the highest level of educational achievement.|NCI|N|
C1883614|Indicates that 11th grade is the highest level of educational achievement.|NCI|N|
C1883615|Indicates that a person was in school through 12th grade but they did not receive a high school diploma.|NCI|N|
C1883619|Indicates that 1st grade is the highest level of educational achievement.|NCI|N|
C1883622|Indicates that 2nd grade is the highest level of educational achievement.|NCI|N|
C1883635|Indicates that 3rd grade is the highest level of educational achievement.|NCI|N|
C1883642|Indicates that 4th grade is the highest level of educational achievement.|NCI|N|
C1883646|Indicates that 5th grade is the highest level of educational achievement.|NCI|N|
C1883649|Indicates that 6th grade is the highest level of educational achievement.|NCI|N|
C1883651|Indicates that 7th grade is the highest level of educational achievement.|NCI|N|
C1883653|Indicates that 8th grade is the highest level of educational achievement.|NCI|N|
C1883654|Indicates that 9th grade is the highest level of educational achievement.|NCI|N|
C1883669|Bone marrow failure defined as pancytopenia, secondary to hepatitis.|NCI|N|
C1883670|A morphologic finding that indicates the presence of cells with abundant eosinophilic and granular cytoplasm in a tumor sample.|NCI|N|
C1883680|A pathologic finding about one or more characteristics of thyroid cancer, following the rules of the TNM AJCC v6 classification system as they pertain to staging of regional lymph nodes. TNM pathologic regional lymph nodes findings are based on clinical findings supplemented by histopathologic examination of one or more tissue specimens acquired during surgery.|NCI|N|
C1883681|A pathologic finding about one or more characteristics of maxillary sinus cancer, following the rules of the TNM AJCC v6 classification system as they pertain to staging of the primary tumor.|NCI|N|
C1883685|A morphologic finding indicating the presence of an architectural pattern of tubular formations in a tissue sample.|NCI|N|
C1883694|Intraocular medulloepithelioma is a rare eye tumor characterized by a white, gray or yellow-colored cystic mass that arises from the primitive neuroectodermal, nonpigmented epithelium of the ciliary body, or occasionally from the optic nerve, optic disc, retina or iris. Typically it has a benign clinical course with good prognosis and generally presents with childhood onset of poor vision and pain, glaucoma, and/or cataract. Leukocoria, exotropia, exophthalmos, strabismus, epiphora, change in eye color, hyphema, and raised intraocular pressure are also remarkable manifestations.|ORDO|N|
C1883696|A benign or malignant lesion typically arising in the period between infancy and adulthood.|NCI|N|
C1883700|A clinical finding about one or more characteristics of kidney cancer, following the rules of the TNM AJCC v6 classification system.|NCI|N|
C1883714|An adenoma that arises from the parotid gland. It is characterized by an oncocytic, often papillary, epithelial component, dense lymphoid stroma, and cystic spaces. A strong association with smoking has been reported. It typically presents as a painless swelling in the lower portion of the parotid gland.|NCI|N|
C1883716|A disorder characterized by unusually late sexual maturity.|NCI|N|
C1883722|Stage 0a includes: Ta, N0, M0. Ta: Papillary noninvasive carcinoma. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C1883723|A basal cell carcinoma of the skin that is characterized by follicular differentiation.|NCI|N|
C1947901|A pathologic process in which alterations at the molecular level result in a more aggressive cytologic and phenotypic profile and clinical course of a malignant neoplasm.|NCI|N|
C1947920|A rare benign neoplasm of the endocardium. The vast majority of cases arise in the heart valves. Histopathologic examination reveals a papilloma lined by endothelial cells with a central avascular core which contains fibroblasts and elastic fibers. Patients may be asymptomatic or present with ischemic or embolic events.|NCI|N|
C1947949|A tumor with myoepithelial differentiation that lacks an infiltrative growth pattern and does not metastasize.|NCI|N|
C1947968|A carcinoma that has spread to the skin from its original site of gowth.|NCI|N|
C1954880|Nuclear or cytoplasmic aggregates of substances in red blood cells.|HPO|N|
C1955603|The absence of both hearing and vision.|MSH|N|
C1955629|HHV-6 encephalitis refers to inflammation of the brain due to an infection with human herpesvirus 6. People who have undergone allogeneic hematopoietic cell transplantation are at an increased risk for developing HHV-6 encephalitis, particularly when umbilical cord blood stem cells are used. People with immune system disorders may also be at an increased risk for developing this infection. Signs and symptoms vary, but often include confusion, anterograde amnesia (difficulty learning new information following the onset of amnesia), short-term memory loss, and seizures.Diagnosis often involves lumbar puncture, virus testing, and MRI. EEG 's may also be recommendedwhen seizures are suspected. HHV-6 encephalitis is treated with an antiviral agent with activity against HHV-6. Long term outlook (chance of full recovery) can vary considerably depending individual patient factors.|MONDO|N|
C1955779|Prolonged complete obstruction of the coronary artery. (ACC)|NCI|N|
C1955781|Embolization of intravascular thrombus containing microorganisms into the pulmonary parenchyma via arterial system. Septic pulmonary embolism (PE) can be associated with multiple additional clinical manifestations such as fever, tachypnea, and hemoptysis. This HPO term refers to the finding of the septic embolus in the lung, which can be inferred from radiological findings. Typical radiographic features of septic PE include patchy air space lesions simulating non-specific bronchopneumonia; multiple ill defined round or wedge shaped densities of varying sizes from approximately 0.5 to 3.5 cm located peripherally; lesions abutting the pleura and located at the end of vessels (feeding vessel sign) seen on chest CT scans. Other pulmonary features suggesting septic PE include bilateral, occasional unilateral, rapid progression of cavities or abscess formations.|HPO|N|
C1955861|T-cell large granular lymphocyte leukemia (T-cell LGL leukemia) is a lymphoproliferative malignancy that arises from the mature T-cell (CD3+) lineage.|ORDO|N|
C1955864|The omission of atrial activation that is caused by transient cessation of impulse generation at the SINOATRIAL NODE. It is characterized by a prolonged pause without P wave in an ELECTROCARDIOGRAM. Sinus arrest has been associated with sleep apnea (REM SLEEP-RELATED SINUS ARREST).|MSH|N|
C1955869|A group of neural cortical developmental malformations of diverse genetic causes. Clinical manifestations include epilepsy and developmental delays.|NCI|N|
C1955870|Disorders comprising a spectrum of brain malformations representing the paradigm of a diffuse neuronal migration disorder. They result in cognitive impairment; SEIZURES; and HYPOTONIA or spasticity. Mutations of two genes, LIS1, the gene for the non-catalytic subunit of PLATELET-ACTIVATING FACTOR ACETYLHYDROLASE IB; and DCX or XLIS, the gene for doublecortin, have been identified as the most common causes of disorders in this spectrum. Additional variants of classical (Type I) lissencephaly have been linked to RELN, the gene for reelin, and ARX, the gene for aristaless related homeobox protein. (From Leventer, R.J., et al, Mol Med Today. 2000 Jul;6(7):277-84 and Barkovich, A.J., et al, Neurology. 2005 Dec 27;65(12):1873-87.)|MSH|N|
C1955883|Phenomena and pharmaceutics of compounds that selectively bind to a specific receptor and trigger a response. They mimic the action of endogenous biochemical molecules. Their effect can be countered by antagonists (DRUG ANTAGONISM).|MSH|N|
C1955884|Phenomena and pharmaceutics of compounds that bind to the same receptor binding-site as an agonist (DRUG AGONISM) for that receptor but exerts the opposite pharmacological effect.|MSH|N|
C1955892|Drug agonism involving selective binding but reduced effect. This can result in some degree of DRUG ANTAGONISM.|MSH|N|
C1955906|An extranodal neoplasm, usually possessing an NK-cell phenotype and associated with EPSTEIN-BARR VIRUS. These lymphomas exhibit a broad morphologic spectrum, frequent necrosis, angioinvasion, and most commonly present in the midfacial region, but also in other extranodal sites.|MSH|N|
C1955934|A heterogeneous group disorders characterized by short, brittle hair with low-sulfur content (due to an abnormal synthesis of the sulfur containing keratins). The abnormalities are usually obvious at birth, with variable clinical expression. Trichothiodystrophy is an autosomal recessive disorder. In the photosensitive group 95% have mutations within the XPD (ERCC2) gene (localized to 19q13.2-q13.3). The remaining cases are caused by mutations within the XPB gene. So far, no gene has been isolated for the nonphotosensitive group. The variants of Trichothiodystrophy depending on their different associations are: BIDS syndrome, IBIDS syndrome, PIBIDS syndrome, Sabinas syndrome, SIBIDS syndrome, Itin syndrome and Pollitt syndrome.|SNOMEDCT_US|N|
C1955955|Distinctive health characteristics and attributes of a racial and/or ethnic group who is socially disadvantaged and/or subject to potential discriminatory acts.|NCI|N|
C1956089|A bony projection that forms on the joints of the body.|NCI|N|
C1956093|Paris-Trousseau thrombocytopenia (TCPT) is a contiguous gene syndrome characterized by mild bleeding tendency, variable thrombocytopenia (THC), dysmorphic facies, abnormal giant alpha-granules in platelets and dysmegakaryopoiesis.|ORDO|N|
C1956097|Wolf-Hirschhorn syndrome is a congenital malformation syndrome characterized by pre- and postnatal growth deficiency, developmental disability of variable degree, characteristic craniofacial features ('Greek warrior helmet' appearance of the nose, high forehead, prominent glabella, hypertelorism, high-arched eyebrows, protruding eyes, epicanthal folds, short philtrum, distinct mouth with downturned corners, and micrognathia), and a seizure disorder (Battaglia et al., 2008).|OMIM|N|
C1956125|Alagille syndrome (ALGS) is a multisystem disorder with a wide spectrum of clinical variability; this variability is seen even among individuals from the same family. The major clinical manifestations of ALGS are bile duct paucity on liver biopsy, cholestasis, congenital cardiac defects (primarily involving the pulmonary arteries), butterfly vertebrae, ophthalmologic abnormalities (most commonly posterior embryotoxon), and characteristic facial features. Renal abnormalities, growth failure, developmental delays, splenomegaly, and vascular abnormalities may also occur.|GeneReviews|N|
C1956130|A follicular lymphoma which contains up to 5 centroblasts per 40X high-power microscopic field.|NCI|N|
C1956147|Severe microcephaly and lissencephaly with granular surfaces with immature cortical plate, reduced in thickness, with focal polymicrogyria and immature small neurons with rare processes, intermingled with a considerable number of glial elements.|HPO|N|
C1956158|Presence of a hole or holes in the ventricular septum.|MSH|N|
C1956233|A collection of blood in BASAL GANGLIA.|MSH|N|
C1956234|A collection of blood in PUTAMEN.|MSH|N|
C1956257|A narrowing of the right ventricular outflow tract that can occur at the pulmonary valve (valvular stenosis), below the pulmonary valve (infundibular stenosis), or above the pulmonary valve (supravalvar stenosis).|HPO|N|
C1956261|A congenital malformation of veins which drain normal brain characterized by a caput medusae or an umbrellalike convergence of multiple venules on a single, or occasionally multiple, enlarged parenchymal or medullary vein, like the trunk of a tree or the shank of an umbrella. This dilated terminal vein penetrates the cortex to drain either (a) superficially to cortical veins or sinuses, (b) deeply to subependymal veins of the lateral ventricle and then into the galenic system, (c) to the fourth ventricle and then to the pontomesencephalic vein, or (d) to the precentral cerebellar vein and into the galenic system.|HPO|N|
C1956346|Narrowing of the coronary arteries due to fatty deposits inside the arterial walls. The diagnostic criteria may include documented history of any of the following: documented coronary artery stenosis greater than or equal to 50% (by cardiac catheterization or other modality of direct imaging of the coronary arteries); previous coronary artery bypass surgery (CABG); previous percutaneous coronary intervention (PCI); previous myocardial infarction. (ACC)|NCI|N|
C1956391|A rare large vessel vasculitis (LVV) characterized by vasculitis predominantly involving the arteries originating from the aortic arch and the extracranial branches of the carotid arteries. Clinical manifestations are variable, the predominant cranial phenotype is characterized by headache, jaw claudication, scalp tenderness and visual symptoms and the predominant LVV type by constitutional symptoms, polymyalgia rheumatica and occasionally limb ischemia. Overlaps between these two phenotypes are common.|ORDO|N|
C1956395|A form of thoracic outlet syndrome that presents as unilateral upper extremity ischemia.|ORDO|N|
C1956396|A form of thoracic outlet syndrome that manifests as unilateral (rarely bilateral) arm pain and cyanosis. The disease occurs in young adults, usually after excessive arm activity. The characteristic symptoms, caused by venous obstruction, are arm swelling, cyanosis and pain. Repetitive arm motion and compression of the subclavian vein in the neck (between the clavicle and the first rib) leads to scar tissue that can predispose to thrombosis due to narrowing of vessels.|SNOMEDCT_US|N|
C1956410|A subtype with ventricular septal defect clearly away from the semilunar valves of the AORTA and the PULMONARY ARTERY.|MSH|N|
C1956413|A double outlet right ventricle with a ventricular spetal defect (a hole between the two bottom chambers (ventricles) of the heart), that is considered to be closely related to the pulmonary origin. There is not associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches.|HPO|N|
C1956415|Attacks of breathlessness that occur at night and may awaken the sleeping patient.|HPO|N|
C1956418|An abnormal twisting or rotation of a bodily part or member on its axis.|MSH|N|
C1959582|The PTEN hamartoma tumor syndrome (PHTS) includes Cowden syndrome (CS), Bannayan-Riley-Ruvalcaba syndrome (BRRS), PTEN-related Proteus syndrome (PS), and PTEN-related Proteus-like syndrome. CS is a multiple hamartoma syndrome with a high risk for benign and malignant tumors of the thyroid, breast, kidney, and endometrium. Affected individuals usually have macrocephaly, trichilemmomas, and papillomatous papules, and present by the late 20s. The lifetime risk of developing breast cancer is 85%, with an average age of diagnosis between 38 and 46 years. The lifetime risk for thyroid cancer (usually follicular, rarely papillary, but never medullary thyroid cancer) is approximately 35%. The lifetime risk for renal cell cancer (predominantly of papillary histology) is 34%. The risk for endometrial cancer may approach 28%. BRRS is a congenital disorder characterized by macrocephaly, intestinal hamartomatous polyposis, lipomas, and pigmented macules of the glans penis. PS is a complex, highly variable disorder involving congenital malformations and hamartomatous overgrowth of multiple tissues, as well as connective tissue nevi, epidermal nevi, and hyperostoses. Proteus-like syndrome is undefined but refers to individuals with significant clinical features of PS who do not meet the diagnostic criteria for PS.|GeneReviews|N|
C1959583|Heart failure caused by dysfunction of the MYOCARDIUM, leading to defective cardiac emptying (contraction) or filling (relaxation).|MSH|N|
C1959588|A vascular anomaly due to proliferation of blood or lymphatic vessels that forms a tumor-like mass. Vessels in the angioma may or may not be dilated.|MSH|N|
C1959589|A tumor-like mass with large vascular space that is filled with blood or lymph.|MSH|N|
C1959609|An eating away or breakdown of any type of external or internal human tissue including but not limited to skin, teeth, mucosa, or somatic, which involves only the outer tissue layer. When tissue surrounds an implanted device, the tissue breakdown may result in migration and loss of the implant material and may result in further complications such as infection or abscess.|NCI|N|
C1959620|Dihyropyrimidine dehydrogenase deficiency (DPYDD) shows large phenotypic variability, ranging from no symptoms to a convulsive disorder with motor and mental retardation in homozygous patients. In addition, homozygous and heterozygous mutation carriers can develop severe toxicity after the administration of the antineoplastic drug 5-fluorouracil (5FU), which is also catabolized by the DPYD enzyme. This is an example of a pharmacogenetic disorder (Van Kuilenburg et al., 1999).
Since there is no correlation between genotype and phenotype in DPD deficiency, it appears that the deficiency is a necessary, but not sufficient, prerequisite for the development of clinical abnormalities (Van Kuilenburg et al., 1999; Enns et al., 2004).|OMIM|N|
C1959626|Mevalonic aciduria (MEVA), the first recognized defect in the biosynthesis of cholesterol and isoprenoids, is a consequence of a deficiency of mevalonate kinase (ATP:mevalonate 5-phosphotransferase; EC 2.7.1.36). Mevalonic acid accumulates because of failure of conversion to 5-phosphomevalonic acid, which is catalyzed by mevalonate kinase. Mevalonic acid is synthesized from 3-hydroxy-3-methylglutaryl-CoA, a reaction catalyzed by HMG-CoA reductase (142910).
Mevalonic aciduria is characterized by dysmorphology, psychomotor retardation, progressive cerebellar ataxia, and recurrent febrile crises, usually manifesting in early infancy, accompanied by hepatosplenomegaly, lymphadenopathy, arthralgia, and skin rash. The febrile crises are similar to those observed in hyperimmunoglobulinemia D and to periodic fever syndrome (HIDS; 260920), which is also caused by mutation in the MVK gene (summary by Prietsch et al., 2003).|OMIM|N|
C1959632|A clonal proliferation of immunoglobulin-secreting plasma cells. This category includes plasma cell myeloma, plasma cell leukemia, plasmacytoma, monoclonal immunoglobulin deposition disease, and monoclonal gammopathy of undetermined significance.|NCI|N|
C1959798|A rare autonomic nervous system disorder characterized by diminished or absent buffering capability to prevent blood pressure from rising or falling excessively, due to abnormalities in the vascular baroreceptors, the glossopharyngeal or vagal nerves, or the brain stem. Typical clinical presentations are acute severe sustained hypertension, tachycardia, and headache, or volatile hypertension and tachycardia with headache, diaphoresis, flushing, and emotional instability. Rare cases rather present with hypotension, bradycardia, and dizziness or syncope.|ORDO|N|
C1959929|A fetal heart rate acceleration that lasts 2 to less than 10 minutes.|NCI|N|
C1959930|Fetal heart rate variability not detected during intrapartum fetal heart monitoring.|SNOMEDCT_US|N|
C1960034|A disorder characterized by clinically significant sexual dysfunction (including impaired desire, impaired arousal, impaired orgasm, or sexual pain) that is fully explained by substance use.|NCI|N|
C1960172|A closed sac that has developed in the upper jaw bone (maxilla) and contains fluid or semi-solid material. Cystic lesions of the maxilla are benign entities with both odontogenic and non-odontogenic origins.|HPO|N|
C1960221|A finding of lymphoma that is not growing and responds to treatment.|NCI|N|
C1960277|A rare pulmonary complication of an underlying autoimmune disorder that is reported in association with systemic lupus erythematosus (SLE). Reduced lung volumes result in restrictive ventilatory defect and a preserved carbon monoxide transfer coefficient.|MONDO|N|
C1960398|A biologic subset of breast carcinoma defined by high expression of HER2, GRB7, and TRAP100, and by lack of expression of estrogen receptor (ER).|NCI|N|
C1960401|An indication that the results from radiographic and pathological testing correlate.|NCI|N|
C1960402|An indication that the results from radiographic and pathological testing do not correlate.|NCI|N|
C1960432|A qualifier used to describe the agreement between radiographic and pathologic findings.|NCI|N|
C1960459|Hereditary angioedema-3 (HAE3) is a rare disorder characterized clinically by recurrent skin swelling, abdominal pain attacks, and potentially life-threatening upper airway obstruction. The disorder occurs almost exclusively in women and is often precipitated or worsened by high estrogen levels (e.g., during pregnancy or treatment with oral contraceptives). Both concentration and function of C1 inhibitor (C1NH; 606860) are normal (summary by Dewald and Bork, 2006).
For a discussion of genetic heterogeneity of HAE, see 106100.|OMIM|N|
C1960469|Left ventricular noncompaction is a heart (cardiac) muscle disorder that occurs when the lower left chamber of the heart (left ventricle), which helps the heart pump blood, does not develop correctly. Instead of the muscle being smooth and firm, the cardiac muscle in the left ventricle is thick and appears spongy. The abnormal cardiac muscle is weak and has an impaired ability to pump blood because it either cannot completely contract or it cannot completely relax. For the heart to pump blood normally, cardiac muscle must contract and relax fully.\n\nSome individuals with left ventricular noncompaction experience no symptoms at all; others have heart problems that can include sudden cardiac death. Additional signs and symptoms include abnormal blood clots, irregular heart rhythm (arrhythmia), a sensation of fluttering or pounding in the chest (palpitations), extreme fatigue during exercise (exercise intolerance), shortness of breath (dyspnea), fainting (syncope), swelling of the legs (lymphedema), and trouble laying down flat. Some affected individuals have features of other heart defects. Left ventricular noncompaction can be diagnosed at any age, from birth to late adulthood. Approximately two-thirds of individuals with left ventricular noncompaction develop heart failure.|MedlinePlus Genetics|N|
C1960539|Aromatase deficiency is a rare autosomal recessive disorder in which individuals cannot synthesize endogenous estrogens. If a fetus lacks aromatase activity, dehydroepiandrosterone sulfate produced by the fetal adrenal glands cannot be converted to estrogen by the placenta, and is converted to testosterone peripherally and results in virilization of both fetus and mother. Virilization manifests as pseudohermaphroditism in female infants, with hirsutism and acne in the mother; the maternal indicators resolve following delivery. Affected females are usually diagnosed at birth because of the pseudohermaphroditism. Cystic ovaries and delayed bone maturation can occur during childhood and adolescence in these girls, who present at puberty with primary amenorrhea, failure of breast development, virilization, and hypergonadotropic hypogonadism. Affected males do not present with obvious defects at birth. Their clinical symptoms include tall stature, delayed skeletal maturation, delayed epiphyseal closure, bone pain, eunuchoid body proportions, and excess adiposity. Estrogen replacement therapy reverses the symptoms in males and females (summary by Jones et al., 2007).|OMIM|N|
C1960540|An autosomal recessive condition that results in aromatase deficiency in the placenta, causing temporary virilization of the pregnant woman and virilization of her 46,XX fetus.|NCI|N|
C1960543|Bickerstaff's brainstem encephalitis (BBE) is a rare post-infectious neurological disease characterized by the association of external ophthalmoplegia, ataxia, lower limb arreflexia, extensor plantar response and disturbance of consciousness (drowsiness, stupor or coma).|ORDO|N|
C1960546|A myxoma (tumor of primitive connective tissue) of the heart. Cardiac myxomas consist of stellate to plump, cytologically bland mesenchymal cells set in a myxoid stroma. Cardiac myxomas are of endocardial origin and general project from the endocardium into a cardiac chamber.|HPO|N|
C1960561|Hemidystonia refers to dystonia which involves the ipsilateral face, arm, and leg.|HPO|N|
C1960639|Potential for the obstruction of a vein by the migration of a blood clot.|PNDS|N|
C1960756|A disorder that occurs after the death of a significant other, in which the experience of distress accompanying bereavement fails to follow normative expectations and manifests in functional impairment.|NANDA-I|N|
C1960757|Impaired ability to modify lifestyle and/or actions in a manner that improves the level of wellness.|NANDA-I|N|
C1960822|An intermittent esotropia with binocular single vision present at distance fixation but esotropia on accommodation for near fixation. Usually associated with hypermetropia but patients can be emmetropic and rarely myopic. Associated with a high accommodative convergence/accommodation (AC/A) ratio.|HPO|N|
C1960870|Episodes of migraine occurring on 15 or more days per month, for more than three months.|NCI|N|
C1961099|Acute lymphoblastic leukemia of T-cell origin. It comprises about 15% of childhood cases and 25% of adult cases. It is more common in males than females.|HPO|N|
C1961100|A disorder characterized by the persistent or recurrent inability to achieve or to maintain an erection during sexual activity.|NCI|N|
C1961102|A neoplasm characterized by abnormalities of the lymphoid cell precursors leading to excessive lymphoblasts in the marrow and other organs. It is the most common cancer in children and accounts for the vast majority of all childhood leukemias.|MSH|N|
C1961121|A congenital abnormality of the arteries and veins, lymph vessels or veins and lymph vessels.|NCI|N|
C1961131|A disorder characterized by sudden, often repetitive, spasmodic contraction of the thoracic cavity, resulting in violent release of air from the lungs and usually accompanied by a distinctive sound.|NCI|N|
C1961835|Gaucher disease (GD) encompasses a continuum of clinical findings from a perinatal lethal disorder to an asymptomatic type. The identification of three major clinical types (1, 2, and 3) and two other subtypes (perinatal-lethal and cardiovascular) is useful in determining prognosis and management. GD type 1 is characterized by the presence of clinical or radiographic evidence of bone disease (osteopenia, focal lytic or sclerotic lesions, and osteonecrosis), hepatosplenomegaly, anemia and thrombocytopenia, lung disease, and the absence of primary central nervous system disease. GD types 2 and 3 are characterized by the presence of primary neurologic disease; in the past, they were distinguished by age of onset and rate of disease progression, but these distinctions are not absolute. Disease with onset before age two years, limited psychomotor development, and a rapidly progressive course with death by age two to four years is classified as GD type 2. Individuals with GD type 3 may have onset before age two years, but often have a more slowly progressive course, with survival into the third or fourth decade. The perinatal-lethal form is associated with ichthyosiform or collodion skin abnormalities or with nonimmune hydrops fetalis. The cardiovascular form is characterized by calcification of the aortic and mitral valves, mild splenomegaly, corneal opacities, and supranuclear ophthalmoplegia. Cardiopulmonary complications have been described with all the clinical subtypes, although varying in frequency and severity.|GeneReviews|N|
C1962948|A disorder characterized by the collapse of part or the entire lung.|NCI|N|
C1962954|A disorder characterized by inflammation of the lip.|NCI|N|
C1962956|A disorder characterized by a discharge of excessive gas from the lower GI tract.|NCI|N|
C1962958|A disorder characterized by a localized collection of blood, usually clotted, in an organ, space, or tissue, due to a break in the wall of a blood vessel.|NCI|N|
C1962962|An adverse reaction characterized by darkening of the skin.|NCI|N|
C1962964|A disorder characterized by a necrotic process occurring in the soft tissues of the pelvis.|NCI|N|
C1962965|A disorder characterized by bleeding from the rectal wall and discharged from the anus.|NCI|N|
C1962966|A disorder involving the retina.|NCI|N|
C1962967|A disorder characterized by weight gain, dyspnea, pleural and pericardial effusions, leukocytosis and/or renal failure originally described in patients treated with all-trans retinoic acid.|NCI|N|
C1962974|A disorder characterized by milky pleural effusion (abnormal collection of fluid) resulting from accumulation of lymph fluid in the pleural cavity.|NCI|N|
C1962975|Unintended facial pain associated with a medical procedure or administration of a drug.|NCI|N|
C1962979|A finding of impaired integrity to the anatomic site of an adverse thermal reaction. Burns can be caused by exposure to chemicals, direct heat, electricity, flames and radiation. The extent of damage depends on the length and intensity of exposure and time until provision of treatment.|NCI|N|
C1962984|A disorder characterized by an abnormal communication between the duodenum and another organ or anatomic site.|NCI|N|
C1962986|A disorder characterized by an increase in pressure in the eyeball due to obstruction of the aqueous humor outflow.|NCI|N|
C1963059|A disorder characterized by the adrenal cortex not producing enough of the hormone cortisol and in some cases, the hormone aldosterone. It may be due to a disorder of the adrenal cortex as in Addison''s disease or primary adrenal insufficiency.|NCI|N|
C1963063|A disorder characterized by a loss of appetite.|NCI|N|
C1963065|A disorder characterized by cessation of breathing.|NCI|N|
C1963067|A disorder characterized by a dysrhythmia without discernible P waves and an irregular ventricular response due to multiple reentry circuits. The rhythm disturbance originates above the ventricles.|NCI|N|
C1963068|A disorder characterized by a dysrhythmia with organized rhythmic atrial contractions with a rate of 200-300 beats per minute. The rhythm disturbance originates in the atria.|NCI|N|
C1963079|A disorder characterized by an inability of the ventricles to fill with blood because the myocardium (heart muscle) stiffens and loses its flexibility.|NCI|N|
C1963084|A disorder characterized by inflammation of the colon.|NCI|N|
C1963087|A disorder characterized by irregular and infrequent or difficult evacuation of the bowels.|NCI|N|
C1963090|A disorder characterized by excessive loss of water from the body. It is usually caused by severe diarrhea, vomiting or diaphoresis.|NCI|N|
C1963091|A disorder characterized by an increase in frequency and/or loose or watery bowel movements.|NCI|N|
C1963092|A disorder characterized by systemic pathological activation of blood clotting mechanisms which results in clot formation throughout the body. There is an increase in the risk of hemorrhage as the body is depleted of platelets and coagulation factors.|NCI|N|
C1963094|A disorder characterized by flaky and dull skin; the pores are generally fine, the texture is a papery thin texture.|NCI|N|
C1963100|A disorder characterized by an uncomfortable sensation of difficulty breathing.|NCI|N|
C1963104|A disorder characterized by an abnormal communication between the esophagus and another organ or anatomic site.|NCI|N|
C1963106|A disorder characterized by inflammation of the esophageal wall.|NCI|N|
C1963110|A disorder characterized by an abnormal communication between the gallbladder and another organ or anatomic site.|NCI|N|
C1963113|A finding of traumatic injury to the bone in which the continuity of the bone is broken.|NCI|N|
C1963121|A disorder characterized by a necrotic process occurring in the soft tissues of the head.|NCI|N|
C1963125|A disorder characterized by bleeding from the ovary.|NCI|N|
C1963127|A disorder characterized by bleeding from the kidney.|NCI|N|
C1963128|A disorder characterized by bleeding from the pancreas.|NCI|N|
C1963129|A disorder characterized by bleeding from the prostate gland.|NCI|N|
C1963130|A disorder characterized by bleeding from the spermatic cord.|NCI|N|
C1963131|A disorder characterized by bleeding from the testis.|NCI|N|
C1963137|A disorder characterized by an abnormal increase of cerebrospinal fluid in the ventricles of the brain.|NCI|N|
C1963138|A disorder characterized by a pathological increase in blood pressure.|NCI|N|
C1963140|A disorder characterized by a decrease in the level of oxygen in the body.|NCI|N|
C1963142|A disorder characterized by bleeding from the ileal wall.|NCI|N|
C1963143|A disorder characterized by a circumscribed, erosive lesion on the mucosal surface of the ileum.|NCI|N|
C1963148|A disorder characterized by accumulation of iron in the tissues.|NCI|N|
C1963149|A disorder characterized by an abnormal communication between the jejunum and another organ or anatomic site.|NCI|N|
C1963150|A disorder characterized by bleeding from the jejunal wall.|NCI|N|
C1963151|A disorder characterized by a circumscribed, erosive lesion on the mucosal surface of the jejunum.|NCI|N|
C1963156|Laryngeal edema resulting from a known treatment.|NCI|N|
C1963158|An adverse event characterized by impaired functioning of the left ventricle of the heart during the diastole phase of the cardiac cycle.|NCI|N|
C1963159|Defined in terms of ejection fraction, a good clinical indicator of ventricular systolic function. Normal ejection fraction is 0.50 or more (>50%). Left ventricular systolic dysfunction is generally defined as an ejection fraction equal to or less than 0.40 (<40%).|NCI|N|
C1963161|An adverse event characterized by pain originating in the liver.|NCI|N|
C1963162|A disorder characterized by a cystic lesion containing lymph.|NCI|N|
C1963165|A disorder characterized by inadequate absorption of nutrients in the small intestine. Symptoms include abdominal marked discomfort, bloating and diarrhea.|NCI|N|
C1963170|A disorder characterized by an abnormally low body temperature. Treatment is required when the body temperature is 35C (95F) or below.|NCI|N|
C1963175|A disorder characterized by a dysrhythmia with a heart rate less than 60 beats per minute that originates in the sinus node.|NCI|N|
C1963178|A disorder characterized by inflammation involving the spinal cord. Symptoms include weakness, paresthesia, sensory loss, marked discomfort and incontinence.|NCI|N|
C1963181|A disorder characterized by a necrotic process occurring in the soft tissues of the neck.|NCI|N|
C1963185|A disorder characterized by having a high amount of body fat.|NCI|N|
C1963197|A disorder characterized by an abnormal communication between the pancreas and another organ or anatomic site.|NCI|N|
C1963202|Cecum Perforation that is temporally associated with the use of a medical treatment or procedure, and that may or may not be considered related to the medical treatment or procedure.|NCI|N|
C1963211|A disorder characterized by irritation to the layers of the pericardium (the protective sac around the heart).|NCI|N|
C1963215|A disorder characterized by abnormal presence of air in the pleural cavity resulting in the collapse of the lung.|NCI|N|
C1963216|A disorder characterized by inflammation of the rectum.|NCI|N|
C1963217|An adverse event characterized by an abnormally long interval between the start of the Q wave and the end of the T wave in the heart''s electrical cycle, corrected for heart rate.|NCI|N|
C1963220|A disorder characterized by an increase in pressure within the pulmonary circulation due to lung or heart disorder.|NCI|N|
C1963221|A disorder characterized by inhalation of solids or liquids into the lungs.|NCI|N|
C1963224|A disorder characterized by an abnormal communication between the rectum and another organ or anatomic site.|NCI|N|
C1963226|Kidney pain that is temporally associated with the use of a medical treatment or procedure, and that may or may not be considered related to the medical treatment or procedure.|NCI|N|
C1963227|A disorder characterized by progressive and life-threatening pulmonary distress in the absence of an underlying pulmonary condition, usually following major trauma or surgery.|NCI|N|
C1963230|Appendix Perforation that is temporally associated with the use of a medical treatment or procedure, and that may or may not be considered related to the medical treatment or procedure.|NCI|N|
C1963233|A finding of tumor-like collection of serum in the tissues.|NCI|N|
C1963235|A disorder characterized by a dysrhythmia with alternating periods of bradycardia and atrial tachycardia accompanied by syncope, fatigue and dizziness.|NCI|N|
C1963244|A disorder characterized by a dysrhythmia with a heart rate greater than 100 beats per minute that originates above the ventricles.|NCI|N|
C1963251|A disorder characterized by an abnormal communication between the trachea and another organ or anatomic site.|NCI|N|
C1963257|Cecum Ulcer that is temporally associated with the use of a medical treatment or procedure, and that may or may not be considered related to the medical treatment or procedure.|NCI|N|
C1963258|A disorder characterized by a circumscribed, erosive lesion on the mucosal surface of the rectum.|NCI|N|
C1963262|Blockage of the normal flow of urine in the urethra occurring following a procedure or pharmaceutical intervention.|NCI|N|
C1963266|A disorder characterized by inflammation to the uvea of the eye.|NCI|N|
C1963267|A disorder characterized by an abnormal communication between the vagina and another organ or anatomic site.|NCI|N|
C1963274|A disorder characterized by inflammation involving the wall of a vessel.|NCI|N|
C1963278|Premature heartbeats alternating regularly with normal beats. It can be associated with hypoxia, ischemia, acute myocardial infarction, and medication overdose.|NCI|N|
C1963281|A disorder characterized by the reflexive act of ejecting the contents of the stomach through the mouth.|NCI|N|
C1963650|A necrotic process affecting the pharynx.|NCI|N|
C1963674|Spinocerebellar ataxia type 10 (SCA10) is characterized by slowly progressive cerebellar ataxia that usually starts as poor balance and unsteady gait, followed by upper-limb ataxia, scanning dysarthria, and dysphagia. Abnormal tracking eye movements are common. Recurrent seizures after the onset of gait ataxia have been reported with variable frequencies among different families. Some individuals have cognitive dysfunction, behavioral disturbances, mood disorders, mild pyramidal signs, and peripheral neuropathy. Age of onset ranges from 12 to 48 years.|GeneReviews|N|
C1963717|Eating during sleep.|NCI|N|
C1963718|A transient condition that can occur following influenza vaccination that is characterized by bilateral conjunctivitis, facial edema, and upper respiratory symptoms.|NCI|N|
C1963745|A condition characterized by hyperandrogenism, insulin resistance, and acanthosis nigricans, typically associated with obesity in teenage girls. It is considered to be a subtype of polycystic ovarian syndrome, but may occur in male individuals. Etiology is unclear, but some cases may be associated with mutations affecting the tyrosine kinase domain of the insulin receptor.|NCI|N|
C1963763|A condition of persistent pain and discomfort in the BACK and the LEG following lumbar surgery, often seen in patients enrolled in pain centers.|MSH|N|
C1963776|An abscess that is located in the anatomical space surrounding the liver, but which is outside of the liver capsule itself.|NCI|N|
C1963823|A laboratory test result which indicates increased levels of lipase in a biologic specimen.|NCI|N|
C1963826|A constellation of disorders whose common thread is the insufficient quantity of one or more mitochondrial enzymes.|NCI|N|
C1963909|An abnormally decreased level of immunoglobulin D (IgD) in blood.|HPO|N|
C1963933|Punding is a stereotypical motor behavior characterized by an intense fascination with repetitive, excessive and non-goal oriented handling, and examining of objects.|HPO|N|
C1963943|Formation of a blood clot inside the artery due to atherosclerosis.|MSH|N|
C1963946|A form of focal dystonia that affects the vocal cords, associated with involuntary contractions of the vocal cords causing interruptions of speech and affecting the voice quality and often leading to patterned, repeated breaks in speech.|HPO|N|
C1963964|Erythema (redness of the skin caused by hyperemia in superficial capillaries) in the region surrounding a fingernail or toe nail.|HPO|N|
C1964021|A disorder characterized by blockage of the normal flow of the contents of the gallbladder.|NCI|N|
C1964030|A disorder characterized by a dysrhythmia with relatively constant PR interval prior to the block of an atrial impulse. This is the result of intermittent failure of atrial electrical impulse conduction through the atrioventricular (AV) node to the ventricles.|NCI|N|
C1968556|The spectrum of MECP2-related phenotypes in females ranges from classic Rett syndrome to variant Rett syndrome with a broader clinical phenotype (either milder or more severe than classic Rett syndrome) to mild learning disabilities; the spectrum in males ranges from severe neonatal encephalopathy to pyramidal signs, parkinsonism, and macroorchidism (PPM-X) syndrome to severe syndromic/nonsyndromic intellectual disability. Females: Classic Rett syndrome, a progressive neurodevelopmental disorder primarily affecting girls, is characterized by apparently normal psychomotor development during the first six to 18 months of life, followed by a short period of developmental stagnation, then rapid regression in language and motor skills, followed by long-term stability. During the phase of rapid regression, repetitive, stereotypic hand movements replace purposeful hand use. Additional findings include fits of screaming and inconsolable crying, autistic features, panic-like attacks, bruxism, episodic apnea and/or hyperpnea, gait ataxia and apraxia, tremors, seizures, and acquired microcephaly. Males: Severe neonatal-onset encephalopathy, the most common phenotype in affected males, is characterized by a relentless clinical course that follows a metabolic-degenerative type of pattern, abnormal tone, involuntary movements, severe seizures, and breathing abnormalities. Death often occurs before age two years.|GeneReviews|N|
C1968593|The main cause of respiratory distress syndrome (RDS) in premature infants is a developmental deficiency of pulmonary surfactant. The frequency of RDS is inversely proportional to gestational age. However, not all infants born prematurely develop RDS, suggesting that there may be susceptibility factors. Because multiple factors can contribute to the pathogenesis of RDS specifically in premature infants, the etiology is considered to be multifactorial (summaries by Ramet et al., 2000; Clark and Clark, 2005).
Pathogenic germline mutations in several genes involved in surfactant metabolism, including SFTPB (178640) and SFTPC (178620), can cause clinical features of respiratory distress syndrome in term neonates, children, and adults, disorders referred to as 'surfactant metabolism dysfunction' (see, e.g., SMDP1, 265120). Susceptibility to the development of RDS in premature infants may be associated with polymorphisms in surfactant genes, such as surfactant protein A1 (SFTPA1; 178630), SFTPB, and SFTPC (see MOLECULAR GENETICS).|OMIM|N|
C1968602|Inborn errors of pulmonary surfactant metabolism are genetically heterogeneous disorders resulting in severe respiratory insufficiency or failure in full-term neonates or infants. These disorders are associated with various pathologic entities, including pulmonary alveolar proteinosis (PAP), desquamative interstitial pneumonitis (DIP), or cellular nonspecific interstitial pneumonitis (NSIP) (Clark and Clark, 2005).
A clinically similar disorder characterized by respiratory distress (267450) can affect preterm infants, who show developmental deficiency of surfactant.
Acquired PAP (610910) is an autoimmune disorder characterized by the presence of autoantibodies to CSF2 (138960).
Genetic Heterogeneity of Pulmonary Surfactant Metabolism Dysfunction
See also SMDP2 (610913), caused by mutation in the SPTPC gene (178620) on 8p21; SMDP3 (610921), caused by mutation in the ABCA3 gene (601615) on 16p13; SMDP4 (300770), caused by mutation in the CSF2RA gene (306250) on Xp22; and SMDP5 (614370), caused by mutation in the CSF2RB gene (138981) on 22q12.|OMIM|N|
C1968603|Autosomal recessive osteopetrosis-5 is a form of infantile malignant osteopetrosis, characterized by defective osteoclast function resulting in decreased bone resorption and generalized osteosclerosis. Defective resorption causes development of densely sclerotic fragile bones and progressive obliteration of the marrow spaces and cranial foramina. Marrow obliteration is associated with extramedullary hematopoiesis and hepatosplenomegaly, and results in anemia and thrombocytopenia, whereas nerve entrapment accounts for progressive blindness and hearing loss. Other major manifestations include failure to thrive, pathologic fractures, and increased infection rate. Most affected children succumb to severe bone marrow failure and overwhelming infection in the first few years of life (Quarello et al., 2004).|OMIM|N|
C1968606|A limited ability of the knee joint to perform extension and flexion.|HPO|N|
C1968607|Underdevelopment of the distal portion of the humerus.|HPO|N|
C1968610|A dislocation of the head of the radius from its socket in the elbow joint in an anterolateral direction.|HPO|N|
C1968611|An abnormal conformation of the femur that becomes gradually enlarged towards the proximal end. This feature affects the proximal femoral metaphysis and epiphysis.|HPO|N|
C1968618|DIsruption and breaking up of the basement membrane of the tubules of the kidney.|HPO|N|
C1968619|The presence of multiple cysts at the border between the renal cortex and medulla.|HPO|N|
C1968668|In any form of leprosy, episodes called reactions can occur, and can lead to further nerve damage. These episodes can include reversal reactions, which involve pain and swelling of the skin lesions and the nerves in the hands and feet. People with the more severe forms of leprosy can develop a type of reaction called erythema nodosum leprosum (ENL). These episodes involve fever and painful skin nodules. In addition, painful, swollen nerves can occur. ENL can also lead to inflammation of the joints, eyes, and the testicles in men.\n\nLeprosy has long been stigmatized because of its infectious nature and the disfigurement it can cause. This stigma can cause social and emotional problems for affected individuals. However, modern treatments can prevent leprosy from getting worse and spreading to other people. While the infection is curable, nerve and tissue damage that occurred before treatment is generally permanent.\n\nPaucibacillary leprosy typically involves a small number of surface lesions on the skin. There is generally loss of sensation in these areas, but the other signs and symptoms that occur in multibacillary leprosy are less likely to develop in this form of the disorder.\n\nMultibacillary leprosy usually involves a large number of cutaneous lesions, including both surface damage and lumps under the skin (nodules). The moist tissues that line body openings such as the eyelids and the inside of the nose and mouth (mucous membranes) can also be affected, which can lead to vision loss, destruction of nasal tissue, or impaired speech. Some affected individuals have damage to internal organs and tissues. The nerve damage that occurs in multibacillary leprosy often results in a lack of sensation in the hands and feet. Repeated injuries that go unnoticed and untreated because of this lack of sensation can lead to reabsorption of affected fingers or toes by the body, resulting in the shortening or loss of these digits.\n\nLeprosy affects the skin and the peripheral nerves, which connect the brain and spinal cord to muscles and to sensory cells that detect sensations such as touch, pain, and heat. Most affected individuals have areas of skin damage (cutaneous lesions) and problems with nerve function (peripheral neuropathy); however, the severity and extent of the problems vary widely. Leprosy occurs on a spectrum, in which the most severe form is called multibacillary or lepromatous, and the least severe form is called paucibacillary or tuberculoid. Patterns of signs and symptoms intermediate between these forms are sometimes called borderline forms.\n\nLeprosy, also called Hansen disease, is a disorder known since ancient times. It is caused by bacteria called Mycobacterium leprae and is contagious, which means that it can be passed from person to person. It is usually contracted by breathing airborne droplets from affected individuals' coughs and sneezes, or by coming into contact with their nasal fluids. However, it is not highly transmissible, and approximately 95 percent of individuals who are exposed to Mycobacterium leprae never develop leprosy. The infection can be contracted at any age, and signs and symptoms can take anywhere from several months to 20 years to appear.|MedlinePlus Genetics|N|
C1968686|Lack of ossification of the proximal epiphysis of the femur.|HPO|N|
C1968689|A condition of decreased or absent presence or activity of dedicator of cytokinesis protein 8. Deficiency of this protein is associated with autosomal recessive hyper-IgE recurrent infection syndrome.|NCI|N|
C1968692|Spermatozoa with multiple flagella attached to the sperm head.|HPO|N|
C1968706|Developmental hypoplasia of the fallopian tube.|HPO|N|
C1968729|An increased amount of glycogen in muscle tissue.|HPO|N|
C1968790|A pattern of simultaneous degeneration and regeneration of axons (see comment).|HPO|N|
C1968804|Congenital plasminogen deficiency is a rare autosomal recessive disorder characterized clinically by chronic mucosal pseudomembranous lesions consisting of subepithelial fibrin deposition and inflammation. The most common clinical manifestation is ligneous ('wood-like') conjunctivitis, a redness and subsequent formation of pseudomembranes mostly on the palpebral surfaces of the eye that progress to white, yellow-white, or red thick masses with a wood-like consistency that replace the normal mucosa. The lesions may be triggered by local injury and/or infection and often recur after local excision. Pseudomembranous lesions of other mucous membranes often occur in the mouth, nasopharynx, trachea, and female genital tract. Some affected children also have congenital occlusive hydrocephalus. A slightly increased female:male ratio has been observed (1.4:1 to 2:1) (Schuster and Seregard, 2003; Tefs et al., 2006).
Type I plasminogen deficiency is characterized by decreased serum plasminogen activity, decreased plasminogen antigen levels, and clinical symptoms, whereas type II plasminogen deficiency, also known as 'dysplasminogenemia,' is characterized by decreased plasminogen activity with normal or slightly reduced antigen levels. Patients with type II deficiency are usually asymptomatic. Ligneous conjunctivitis and pseudomembranous formation has only been associated with type I plasminogen deficiency. Presumably, normal amounts of plasminogen antigen with decreased activity, as seen in type II, is sufficient for normal wound healing (Schuster and Seregard, 2003).|OMIM|N|
C1968811|Increased anterosuperior prominence of the area between the bottom of the incisura and the inner margin of the antihelix.|HPO|N|
C1968814|Reduction in diameter of the ulna.|HPO|N|
C1968816|Increased width of the distal segment of a finger.|HPO|N|
C1968840|The disorder described by Hirschsprung (1888) and known as Hirschsprung disease or aganglionic megacolon is characterized by congenital absence of intrinsic ganglion cells in the myenteric (Auerbach) and submucosal (Meissner) plexuses of the gastrointestinal tract. Patients are diagnosed with the short-segment form (S-HSCR, approximately 80% of cases) when the aganglionic segment does not extend beyond the upper sigmoid, and with the long-segment form (L-HSCR) when aganglionosis extends proximal to the sigmoid. Total colonic aganglionosis and total intestinal HSCR also occur (Amiel et al., 2008).
Isolated HSCR appears to be of complex nonmendelian inheritance with low sex-dependent penetrance and variable expression according to the length of the aganglionic segment, suggestive of the involvement of one or more genes with low penetrance (Amiel et al., 2008).
For a general description and a discussion of genetic heterogeneity of Hirschsprung disease (HSCR), see 142623.|OMIM|N|
C1968843|Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the SHH gene.|MONDO|N|
C1968845|Although primary lateral sclerosis (PLS) is similar to amyotrophic lateral sclerosis (ALS; 105400), they are considered to be clinically distinct progressive paralytic neurodegenerative disorders. Following a period of diagnostic confusion, the clinical distinction between ALS and PLS became clear and diagnostic criteria were established (Pringle et al., 1992). PLS is characterized by degeneration of the upper motor neurons and the corticospinal and corticobulbar tracts, whereas ALS is a more severe disorder characterized by degeneration of both the upper and lower motor neurons.
See 606353 for autosomal recessive juvenile-onset PLS, which is caused by mutations in the ALS2 gene (606352).|OMIM|N|
C1968847|A temporal lobe epilepsy characterized by autosomal dominant inheritance of occipitotemporal lobe epilepsy and migraine with visual aura and that has material basis in variation in the chromosome region 9q21-q22.|MONDO|N|
C1968863|Replacement of the myocardium of the right ventricular free wall by fat and fibrous tissue.|HPO|N|
C1968893|A preauricular tag is a small excrescence of skin that contains elastic cartilage most commonly located anterior to the tragus, although it can be located on different regions of the ear helix and/or face (Yang et al., 2006). Other synonymous terms include preauricular appendage, accessory tragus (Tunkel, 2007), and less commonly, accessory auricle (Yang et al., 2006).|OMIM|N|
C1968901|The presence of whitish deposits in the conjunctiva resembling salt. May be related to calcinosis.|HPO|N|
C1968942|An abnormality related to a defect of vertebral separation of sacral vertebrae during development.|HPO|N|
C1968949|Congenital anomalies of kidney and urinary tract (CAKUT) is a group of abnormalities affecting the kidneys or other structures of the urinary tract. The additional parts of the urinary tract that may be affected include the bladder, the tubes that carry urine from each kidney to the bladder (the ureters), and the tube that carries urine from the bladder out of the body (the urethra). CAKUT results from abnormal development of the urinary system and is present from birth (congenital), although the abnormality may not become apparent until later in life.\n\nIndividuals with CAKUT have one or more kidney or urinary tract abnormalities. For paired structures, like the kidneys and ureters, one or both may be affected. Many different developmental abnormalities are classified as CAKUT, including underdevelopment or absence of a kidney (renal hypodysplasia or agenesis), a kidney formed of fluid-filled sacs called cysts (multicystic dysplastic kidney), buildup of urine in the kidneys (hydronephrosis), an extra ureter leading to the kidney (duplex kidney or duplicated collecting system), a blockage in a ureter where it joins the kidney (ureteropelvic junction obstruction), an abnormally wide ureter (megaureter), backflow of urine from the bladder into the ureter (vesicoureteral reflux), and an abnormal membrane in the urethra that blocks the flow of urine out of the bladder (posterior urethral valve).\n\nCAKUT varies in severity. The abnormalities can result in recurrent urinary tract infections or a buildup of urine in the urinary tract, which may damage the kidneys or other structures. Severe CAKUT can result in life-threatening kidney failure and end-stage renal disease.\n\nCAKUT is often one of several features of a condition that affects multiple body systems (syndromic CAKUT). For example, renal coloboma syndrome, 17q12 deletion syndrome, renal cysts and diabetes (RCAD) syndrome, Fraser syndrome, Townes-Brocks syndrome, and branchio-oto-renal syndrome can cause kidney or urinary tract abnormalities in addition to other problems. However, urinary system abnormalities sometimes occur without other signs and symptoms, which is known as nonsyndromic or isolated CAKUT.|MedlinePlus Genetics|N|
C1968958|Small nodular masses which originate in the subependymal region of the lateral ventricles and protrude into the ventricular cavity. They may represent subependymal hamartomas of tuberous sclerosis.|HPO|N|
C1968959|Cortical tubers in the brain are hamartomatous lesions typically located at the gray-white matter interface, commonly in the frontal and parietal lobes. Cortical tubers are composed of abnormal glial and neural cells, and the size, number, and location vary among patients.|HPO|N|
C1969000|Underdevelopment of muscles of the neck.|HPO|N|
C1969001|Underdevelopment of muscles of the shoulder.|HPO|N|
C1969024|Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the FKTN gene.|MONDO|N|
C1969029|An autosomal dominant sub-type of lissencephaly caused by mutation(s) in the TUBA1A gene, encoding adhesion tubulin alpha-1A chain.|NCI|N|
C1969030|Celiac disease, also known as celiac sprue and gluten-sensitive enteropathy, is a multifactorial disorder of the small intestine that is influenced by both environmental and genetic factors. It is characterized by malabsorption resulting from inflammatory injury to the mucosa of the small intestine after the ingestion of wheat gluten or related rye and barley proteins (summary by Farrell and Kelly, 2002).
For additional information and a discussion of genetic heterogeneity of celiac disease, see 212750.
For a discussion of autoimmunity, see 109100.|OMIM|N|
C1969040|MDDGC4 is an autosomal recessive muscular dystrophy with onset in infancy or early childhood. Cognition and brain structure are usually normal (Godfrey et al., 2006). It is part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1; 128239), collectively known as 'dystroglycanopathies' (Mercuri et al., 2009).|OMIM|N|
C1969052|Meckel syndrome is a disorder with severe signs and symptoms that affect many parts of the body. The most common features are enlarged kidneys with numerous fluid-filled cysts; an occipital encephalocele, which is a sac-like protrusion of the brain through an opening at the back of the skull; and the presence of extra fingers and toes (polydactyly). Most affected individuals also have a buildup of scar tissue (fibrosis) in the liver.\n\nBecause of their serious health problems, most individuals with Meckel syndrome die before or shortly after birth. Most often, affected infants die of respiratory problems or kidney failure.\n\nOther signs and symptoms of Meckel syndrome vary widely among affected individuals. Numerous abnormalities of the brain and spinal cord (central nervous system) have been reported in people with Meckel syndrome, including a group of birth defects known as neural tube defects. These defects occur when a structure called the neural tube, a layer of cells that ultimately develops into the brain and spinal cord, fails to close completely during the first few weeks of embryonic development. Meckel syndrome can also cause problems with development of the eyes and other facial features, heart, bones, urinary system, and genitalia.|MedlinePlus Genetics|N|
C1969053|Classic Joubert syndrome (JS) is characterized by three primary findings: A distinctive cerebellar and brain stem malformation called the molar tooth sign (MTS). Hypotonia. Developmental delays. Often these findings are accompanied by episodic tachypnea or apnea and/or atypical eye movements. In general, the breathing abnormalities improve with age, truncal ataxia develops over time, and acquisition of gross motor milestones is delayed. Cognitive abilities are variable, ranging from severe intellectual disability to normal. Additional findings can include retinal dystrophy, renal disease, ocular colobomas, occipital encephalocele, hepatic fibrosis, polydactyly, oral hamartomas, and endocrine abnormalities. Both intra- and interfamilial variation are seen.|GeneReviews|N|
C1969054|The signs and symptoms of muscle GSD 0 typically begin in early childhood. Affected individuals often experience muscle pain and weakness or episodes of fainting (syncope) following moderate physical activity, such as walking up stairs. The loss of consciousness that occurs with fainting typically lasts up to several hours. Some individuals with muscle GSD 0 have a disruption of the heart's normal rhythm (arrhythmia) known as long QT syndrome. In all affected individuals, muscle GSD 0 impairs the heart's ability to effectively pump blood and increases the risk of cardiac arrest and sudden death, particularly after physical activity. Sudden death from cardiac arrest can occur in childhood or adolescence in people with muscle GSD 0.\n\nIndividuals with liver GSD 0 usually show signs and symptoms of the disorder in infancy. People with this disorder develop low blood sugar (glucose), known as hypoglycemia, after going long periods of time without food (fasting). Signs of hypoglycemia become apparent when affected infants begin sleeping through the night and stop late-night feedings; these infants exhibit extreme tiredness (lethargy), pale skin (pallor), and nausea. During episodes of fasting, ketone levels in the blood may increase (ketosis). Ketones are molecules produced during the breakdown of fats, which occurs when stored sugars (such as glycogen) are unavailable. These short-term signs and symptoms of liver GSD 0 often improve when food is eaten and glucose levels in the body return to normal. The features of liver GSD 0 vary; they can be mild and go unnoticed for years, or they can include developmental delay and growth failure.\n\nGlycogen storage disease type 0 (also known as GSD 0) is a condition caused by the body's inability to form a complex sugar called glycogen, which is a major source of stored energy in the body. GSD 0 has two types: in muscle GSD 0, glycogen formation in the muscles is impaired, and in liver GSD 0, glycogen formation in the liver is impaired.|MedlinePlus Genetics|N|
C1969056|Noonan syndrome with multiple lentigines (NSML) is a condition in which the cardinal features consist of lentigines, hypertrophic cardiomyopathy, short stature, pectus deformity, and dysmorphic facial features including widely spaced eyes and ptosis. Multiple lentigines present as dispersed flat, black-brown macules, mostly on the face, neck, and upper part of the trunk with sparing of the mucosa. In general, lentigines do not appear until age four to five years but then increase to the thousands by puberty. Some individuals with NSML do not exhibit lentigines. Approximately 85% of affected individuals have heart defects, including hypertrophic cardiomyopathy (typically appearing during infancy and sometimes progressive) and pulmonary valve stenosis. Postnatal growth restriction resulting in short stature occurs in fewer than 50% of affected persons, although most affected individuals have a height that is less than the 25th centile for age. Sensorineural hearing deficits, present in approximately 20% of affected individuals, are poorly characterized. Intellectual disability, typically mild, is observed in approximately 30% of persons with NSML.|GeneReviews|N|
C1969057|Noonan syndrome (NS) is characterized by characteristic facies, short stature, congenital heart defect, and developmental delay of variable degree. Other findings can include broad or webbed neck, unusual chest shape with superior pectus carinatum and inferior pectus excavatum, cryptorchidism, varied coagulation defects, lymphatic dysplasias, and ocular abnormalities. Although birth length is usually normal, final adult height approaches the lower limit of normal. Congenital heart disease occurs in 50%-80% of individuals. Pulmonary valve stenosis, often with dysplasia, is the most common heart defect and is found in 20%-50% of individuals. Hypertrophic cardiomyopathy, found in 20%-30% of individuals, may be present at birth or develop in infancy or childhood. Other structural defects include atrial and ventricular septal defects, branch pulmonary artery stenosis, and tetralogy of Fallot. Up to one fourth of affected individuals have mild intellectual disability, and language impairments in general are more common in NS than in the general population.|GeneReviews|N|
C1969060|Any primary ovarian failure in which the cause of the disease is a mutation in the NOBOX gene.|MONDO|N|
C1969063|A rare genetic eye disease with characteristics of congenital profound excavation of the optic nerve head with diminished visual field, in the absence of elevated intraocular pressure. Many patients lack a well-formed retinal artery and have multiple radial cilioretinal arteries instead. The condition is mostly bilateral, may worsen progressively, and is often complicated by serous macular detachment with profound visual loss.|SNOMEDCT_US|N|
C1969073|A form of metabolic acidosis with increased serum chloride levels.|HPO|N|
C1969081|Arrhythmogenic right ventricular cardiomyopathy (ARVC) – previously referred to as arrhythmogenic right ventricular dysplasia (ARVD) – is characterized by progressive fibrofatty replacement of the myocardium that predisposes to ventricular tachycardia and sudden death in young individuals and athletes. It primarily affects the right ventricle, and it may also involve the left ventricle. The presentation of disease is highly variable even within families, and some affected individuals may not meet established clinical criteria. The mean age at diagnosis is 31 years (±13; range: 4-64 years).|GeneReviews|N|
C1969084|Pontocerebellar hypoplasia (PCH) is a heterogeneous group of disorders characterized by an abnormally small cerebellum and brainstem and associated with severe developmental delay (Edvardson et al., 2007).
For a phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1 (607596).|OMIM|N|
C1969086|Immunodeficiency-35 (IMD35) is an autosomal recessive primary immunodeficiency characterized by increased susceptibility to localized or disseminated mycobacterial infection after BCG vaccination. Some patients may have increased susceptibility to infection with other intracellular organisms and/or viral infections. Fungal infections are not observed. Laboratory studies show normal levels of immune cells but defective signaling in specific immunologic pathways (summary by Kreins et al., 2015).|OMIM|N|
C1969092|The nephronophthisis (NPH) phenotype is characterized by reduced renal concentrating ability, chronic tubulointerstitial nephritis, cystic renal disease, and progression to end-stage renal disease (ESRD) before age 30 years. Three age-based clinical subtypes are recognized: infantile, juvenile, and adolescent/adult. Infantile NPH can present in utero with oligohydramnios sequence (limb contractures, pulmonary hypoplasia, and facial dysmorphisms) or postnatally with renal manifestations that progress to ESRD before age 3 years. Juvenile NPH, the most prevalent subtype, typically presents with polydipsia and polyuria, growth retardation, chronic iron-resistant anemia, or other findings related to chronic kidney disease (CKD). Hypertension is typically absent due to salt wasting. ESRD develops at a median age of 13 years. Ultrasound findings are increased echogenicity, reduced corticomedullary differentiation, and renal cysts (in 50% of affected individuals). Histologic findings include tubulointerstitial fibrosis, thickened and disrupted tubular basement membrane, sporadic corticomedullary cysts, and normal or reduced kidney size. Adolescent/adult NPH is clinically similar to juvenile NPH, but ESRD develops at a median age of 19 years. Within a subtype, inter- and intrafamilial variability in rate of progression to ESRD is considerable. Approximately 80%-90% of individuals with the NPH phenotype have no extrarenal features (i.e., they have isolated NPH); ~10%-20% have extrarenal manifestations that constitute a recognizable syndrome (e.g., Joubert syndrome, Bardet-Biedl syndrome, Jeune syndrome and related skeletal disorders, Meckel-Gruber syndrome, Senior-Løken syndrome, Leber congenital amaurosis, COACH syndrome, and oculomotor apraxia, Cogan type).|GeneReviews|N|
C1969093|Other features of autosomal recessive osteopetrosis can include slow growth and short stature, dental abnormalities, and an enlarged liver and spleen (hepatosplenomegaly). Depending on the genetic changes involved, people with severe osteopetrosis can also have brain abnormalities, intellectual disability, or recurrent seizures (epilepsy).\n\nAutosomal recessive osteopetrosis (ARO) is a more severe form of the disorder that becomes apparent in early infancy. Affected individuals have a high risk of bone fracture resulting from seemingly minor bumps and falls. Their abnormally dense skull bones pinch nerves in the head and face (cranial nerves), often resulting in vision loss, hearing loss, and paralysis of facial muscles. Dense bones can also impair the function of bone marrow, preventing it from producing new blood cells and immune system cells. As a result, people with severe osteopetrosis are at risk of abnormal bleeding, a shortage of red blood cells (anemia), and recurrent infections. In the most severe cases, these bone marrow abnormalities can be life-threatening in infancy or early childhood.\n\nIn individuals with ADO who develop signs and symptoms, the major features of the condition include multiple bone fractures after minor injury, abnormal side-to-side curvature of the spine (scoliosis) or other spinal abnormalities, arthritis in the hips, and a bone infection called osteomyelitis. These problems usually become apparent in late childhood or adolescence.\n\nAutosomal dominant osteopetrosis (ADO), which is also called Albers-Schönberg disease, is typically the mildest type of the disorder. Some affected individuals have no symptoms. In affected people with no symptoms, the unusually dense bones may be discovered by accident when an x-ray is done for another reason. \n\nOsteopetrosis is a bone disease that makes bone tissue abnormally compact and dense and also prone to breakage (fracture). Researchers have described several major types of osteopetrosis, which are usually distinguished by their pattern of inheritance: autosomal dominant or autosomal recessive. The different types of the disorder can also be distinguished by the severity of their signs and symptoms.\n\nA few individuals have been diagnosed with intermediate autosomal osteopetrosis (IAO), a form of the disorder that can have either an autosomal dominant or an autosomal recessive pattern of inheritance. The signs and symptoms of this condition become noticeable in childhood and include an increased risk of bone fracture and anemia. People with this form of the disorder typically do not have life-threatening bone marrow abnormalities. However, some affected individuals have had abnormal calcium deposits (calcifications) in the brain, intellectual disability, and a form of kidney disease called renal tubular acidosis.|MedlinePlus Genetics|N|
C1969099|Atrial fibrillation is the most common sustained cardiac rhythm disturbance, affecting more than 2 million Americans, with an overall prevalence of 0.89%. The prevalence increases rapidly with age, to 2.3% between the ages of 40 and 60 years, and to 5.9% over the age of 65. The most dreaded complication is thromboembolic stroke (Brugada et al., 1997).
For a discussion of genetic heterogeneity of atrial fibrillation, see 608583.|OMIM|N|
C1969106|The spectrum of CLCN7-related osteopetrosis includes infantile malignant CLCN7-related autosomal recessive osteopetrosis (ARO), intermediate autosomal osteopetrosis (IAO), and autosomal dominant osteopetrosis type II (ADOII; Albers-Schönberg disease). ARO. Onset is at birth. Findings may include: fractures; reduced growth; sclerosis of the skull base (with or without choanal stenosis or hydrocephalus) resulting in optic nerve compression, facial palsy, and hearing loss; absence of the bone marrow cavity resulting in severe anemia and thrombocytopenia; dental abnormalities, odontomas, and risk for mandibular osteomyelitis; and hypocalcemia with tetanic seizures and secondary hyperparathyroidism. Without treatment maximal life span in ARO is ten years. IAO. Onset is in childhood. Findings may include: fractures after minor trauma, characteristic skeletal radiographic changes found incidentally, mild anemia, and occasional visual impairment secondary to optic nerve compression. Life expectancy in IAO is usually normal. ADOII. Onset is usually late childhood or adolescence. Findings may include: fractures (in any long bone and/or the posterior arch of a vertebra), scoliosis, hip osteoarthritis, and osteomyelitis of the mandible or septic osteitis or osteoarthritis elsewhere. Cranial nerve compression is rare.|GeneReviews|N|
C1969108|Age-related macular degeneration is an eye disease that is a leading cause of vision loss in older people in developed countries. Subtle abnormalities indicating changes in vision may occur in a person's forties or fifties. Distorted vision and vision loss usually become noticeable in a person's sixties or seventies and tend to worsen over time.\n\nAge-related macular degeneration mainly affects central vision, which is needed for detailed tasks such as reading, driving, and recognizing faces. The vision loss in this condition results from a gradual deterioration of light-sensing cells in the tissue at the back of the eye that detects light and color (the retina). Specifically, age-related macular degeneration affects a small area near the center of the retina, called the macula, which is responsible for central vision. Side (peripheral) vision and night vision are generally not affected, but slow adjustment of vision to darkness (dark adaptation) and reduced dim light (scotopic) vision often occur in the early stages of the disease.\n\nIn 10 to 15 percent of affected individuals, the dry form progresses to the wet form of age-related macular degeneration. The wet form is characterized by the growth of abnormal, fragile blood vessels underneath the macula. These vessels leak blood and fluid, which damages the macula and makes central vision appear blurry and distorted. The wet form of age-related macular degeneration is associated with severe vision loss that can worsen rapidly.\n\nResearchers have described two major types of age-related macular degeneration, known as the dry form and the wet form. The dry form is much more common, accounting for 85 to 90 percent of all cases of age-related macular degeneration. It is characterized by a buildup of yellowish deposits called drusen beneath the retina and vision loss that worsens slowly over time. The most advanced stage of dry age-related macular degeneration is known as geographic atrophy, in which areas of the macula waste away (atrophy), resulting in severe vision loss. Dry age-related macular degeneration typically affects vision in both eyes, although vision loss often occurs in one eye before the other.|MedlinePlus Genetics|N|
C1969144|Cysts of the cortex of the kidney.|HPO|N|
C1969156|The burst suppression pattern in electroencephalography refers to a characteristic periodic pattern of low voltage (<10 microvolts) suppressed background and a relatively shorter pattern of higher amplitude slow, sharp, and spiking complexes.|HPO|N|
C1969176|Underdevelopment of a ramus (branch) of the pubic bone.|HPO|N|
C1969178|Shortening of the middle parts of the leg in relation to the upper and terminal segments.|HPO|N|
C1969181|Absence or underdevelopment of the tibia.|HPO|N|
C1969185|An abnormally wavy surface or edge of the ribs.|HPO|N|
C1969220|An abnormal reduction in the components of the alternative complement pathway, such as the C3 protein or its cleavage products.|HPO|N|
C1969222|Concentration of the complement component factor H in the blood circulation below the lower limit of normal.|HPO|N|
C1969236|Fusion of the hands and feet by a thin membrane of skin (scarring) seen in forms of dystrophic epidermolysis bullosa and leading to a "mitten" hand deformity.|HPO|N|
C1969237|A reduction in diameter of the distal phalanx of finger towards the distal end.|HPO|N|
C1969238|An overall widening of the spaces between the digits.|HPO|N|
C1969286|Underdevelopment of the distal epiphysis of the radius.|HPO|N|
C1969291|Calcification, that is, pathological deposition of calcium salts in the arch of aorta.|HPO|N|
C1969292|An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the thoracic aorta.|HPO|N|
C1969371|A reduction in the ability of the kidneys to remove uric acid from the serum.|HPO|N|
C1969372|A progressive detrimental connective tissue deposition (fibrosis) on the kidney parenchyma involving the tubules and interstitial tissue of the kidney. Tubulointerstitial injury in the kidney is complex, involving a number of independent and overlapping cellular and molecular pathways, with renal interstitial fibrosis and tubular atrophy (IF/TA) as the final common pathway. However, IF and TA are separable, as shown by the profound TA in renal artery stenosis, which characteristically has little or no fibrosis (or inflammation). For new annotations it is preferable to annotate to the specific HPO terms for Renal interstitial fibrosis and/or Renal tubular atrophy.|HPO|N|
C1969394|Pits in the earlobes at the location where ears are typically pierced for earrings.|HPO|N|
C1969396|The presence of asymmetric developmental dysplasia of the radius.|HPO|N|
C1969397|Short second metacarpal bone because of developmental hypoplasia.|HPO|N|
C1969406|Diffuse prominent gyral impressions on the inner table of skull vault said to resemble beaten copper.|HPO|N|
C1969408|Increased amplitude of the U wave, defined as an amplitude greater than 1-2mm or 25 percent of the height of the T wave.|HPO|N|
C1969443|Long-chain hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency and trifunctional protein (TFP) deficiency are caused by impairment of mitochondrial TFP. TFP has three enzymatic activities – long-chain enoyl-CoA hydratase, long-chain 3-hydroxyacyl-CoA dehydrogenase, and long-chain 3-ketoacyl-CoA thiolase. In individuals with LCHAD deficiency, there is isolated deficiency of long-chain 3-hydroxyacyl-CoA dehydrogenase, while deficiency of all three enzymes occurs in individuals with TFP deficiency. Individuals with TFP deficiency can present with a severe-to-mild phenotype, while individuals with LCHAD deficiency typically present with a severe-to-intermediate phenotype. Neonates with the severe phenotype present within a few days of birth with hypoglycemia, hepatomegaly, encephalopathy, and often cardiomyopathy. The intermediate phenotype is characterized by hypoketotic hypoglycemia precipitated by infection or fasting in infancy. The mild (late-onset) phenotype is characterized by myopathy and/or neuropathy. Long-term complications include peripheral neuropathy and retinopathy.|GeneReviews|N|
C1969462|Demyelination of peripheral motor nerves.|HPO|N|
C1969482|The disorder described by Hirschsprung (1888) and known as Hirschsprung disease or aganglionic megacolon is characterized by congenital absence of intrinsic ganglion cells in the myenteric (Auerbach) and submucosal (Meissner) plexuses of the gastrointestinal tract. Patients are diagnosed with the short-segment form (S-HSCR, approximately 80% of cases) when the aganglionic segment does not extend beyond the upper sigmoid, and with the long-segment form (L-HSCR) when aganglionosis extends proximal to the sigmoid. Total colonic aganglionosis and total intestinal HSCR also occur (Amiel et al., 2008).
Isolated HSCR appears to be of complex nonmendelian inheritance with low sex-dependent penetrance and variable expression according to the length of the aganglionic segment, suggestive of the involvement of one or more genes with low penetrance (Amiel et al., 2008).
For a general description and a discussion of genetic heterogeneity of Hirschsprung disease (HSCR), see 142623.|OMIM|N|
C1969532|Disproportionate shortening of the proximal segment of the arm (i.e. the humerus).|HPO|N|
C1969562|MBD5 haploinsufficiency is a neurodevelopmental disorder characterized by developmental delay, intellectual disability, severe speech impairment, seizures, sleep disturbances, and abnormal behaviors. Most children lack speech entirely or have single words, short phrases, or short sentences. Seizures are present in more than 80% of children; onset is usually around age two years. Sleep disturbances, present in about 90%, can result in excessive daytime drowsiness. Abnormal behaviors can include autistic-like behaviors (80%) and self-injury and aggression (>60%).|GeneReviews|N|
C1969572|Prolonged bleeding post dental extraction sufficient to require medical intervention.|HPO|N|
C1969621|Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the LRTOMT gene.|MONDO|N|
C1969623|Legius syndrome is characterized by multiple café au lait macules without neurofibromas or other tumor manifestations of neurofibromatosis type 1 (NF1). Additional clinical manifestations reported commonly include intertriginous freckling, lipomas, macrocephaly, and learning disabilities / attention-deficit/hyperactivity disorder (ADHD) / developmental delays. Current knowledge of the natural history of Legius syndrome is based on the clinical manifestations of fewer than 300 individuals with a molecularly confirmed diagnosis; better delineation of the clinical manifestations and natural history of Legius syndrome will likely occur as more affected individuals are identified.|GeneReviews|N|
C1969639|An genetic condition that is a subtype of dilated cardiomyopathy caused by mutation(s) in the VCL gene, encoding vinculin.|NCI|N|
C1969640|Asthma-related traits include clinical symptoms of asthma, such as coughing, wheezing, and dyspnea; bronchial hyperresponsiveness (BHR) as assessed by methacholine challenge test; serum IgE levels; atopy; and atopic dermatitis (Laitinen et al., 2001; Illig and Wjst, 2002; Pillai et al., 2006).
For a general phenotypic description and a discussion of genetic heterogeneity of asthma, see 600807.|OMIM|N|
C1969645|A rare genetic autosomal recessive spastic ataxia disease with characteristics of cerebellar ataxia, spasticity, cerebellar (and in some cases cerebral) atrophy, dystonia and leucoencephalopathy. Caused by homozygous or compound heterozygous complex genomic rearrangements involving the MARS2 gene on chromosome 2q33.|SNOMEDCT_US|N|
C1969651|Researchers have described two major types of age-related macular degeneration, known as the dry form and the wet form. The dry form is much more common, accounting for 85 to 90 percent of all cases of age-related macular degeneration. It is characterized by a buildup of yellowish deposits called drusen beneath the retina and vision loss that worsens slowly over time. The most advanced stage of dry age-related macular degeneration is known as geographic atrophy, in which areas of the macula waste away (atrophy), resulting in severe vision loss. Dry age-related macular degeneration typically affects vision in both eyes, although vision loss often occurs in one eye before the other.\n\nIn 10 to 15 percent of affected individuals, the dry form progresses to the wet form of age-related macular degeneration. The wet form is characterized by the growth of abnormal, fragile blood vessels underneath the macula. These vessels leak blood and fluid, which damages the macula and makes central vision appear blurry and distorted. The wet form of age-related macular degeneration is associated with severe vision loss that can worsen rapidly.\n\nAge-related macular degeneration mainly affects central vision, which is needed for detailed tasks such as reading, driving, and recognizing faces. The vision loss in this condition results from a gradual deterioration of light-sensing cells in the tissue at the back of the eye that detects light and color (the retina). Specifically, age-related macular degeneration affects a small area near the center of the retina, called the macula, which is responsible for central vision. Side (peripheral) vision and night vision are generally not affected, but slow adjustment of vision to darkness (dark adaptation) and reduced dim light (scotopic) vision often occur in the early stages of the disease.\n\nAge-related macular degeneration is an eye disease that is a leading cause of vision loss in older people in developed countries. Subtle abnormalities indicating changes in vision may occur in a person's forties or fifties. Distorted vision and vision loss usually become noticeable in a person's sixties or seventies and tend to worsen over time.|MedlinePlus Genetics|N|
C1969652|Brachydactyly type B2 (BDB2) is a subtype of brachydactyly characterized by hypoplasia/aplasia of distal phalanges in combination with distal symphalangism, fusion of carpal/tarsal bones, and partial cutaneous syndactyly (summary by Lehmann et al., 2007).|OMIM|N|
C1969653|Mungan syndrome (MGS) is characterized by chronic intestinal pseudoobstruction (CIPO), megaduodenum, long-segment Barrett esophagus, and cardiac abnormalities of variable severity (summary by Bonora et al., 2015).|OMIM|N|
C1969655|Identified in Israeli Bedouin kindred the phenotype is similar to that of Lethal congenital contracture syndrome type 2 but without distended bladder. Affected individuals are born with severe multiple joint contractures with severe muscle wasting and atrophy, mainly in the legs.|SNOMEDCT_US|N|
C1969657|Any atrial heart septal defect in which the cause of the disease is a mutation in the TBX20 gene.|MONDO|N|
C1969679|An abnormality of the shape of vertebrae, such that they are wedge-shaped (narrow towards the back).|HPO|N|
C1969680|Increased height of the wing (or ala) of the ilium (which is the large expanded portion which bounds the greater pelvis laterally).|HPO|N|
C1969710|Autism, the prototypic pervasive developmental disorder (PDD), is usually apparent by 3 years of age. It is characterized by a triad of limited or absent verbal communication, a lack of reciprocal social interaction or responsiveness, and restricted, stereotypical, and ritualized patterns of interests and behavior (Bailey et al., 1996; Risch et al., 1999). 'Autism spectrum disorder,' sometimes referred to as ASD, is a broader phenotype encompassing the less severe disorders Asperger syndrome (see ASPG1; 608638) and pervasive developmental disorder, not otherwise specified (PDD-NOS). 'Broad autism phenotype' includes individuals with some symptoms of autism, but who do not meet the full criteria for autism or other disorders. Mental retardation coexists in approximately two-thirds of individuals with ASD, except for Asperger syndrome, in which mental retardation is conspicuously absent (Jones et al., 2008). Genetic studies in autism often include family members with these less stringent diagnoses (Schellenberg et al., 2006).
For a discussion of genetic heterogeneity of autism, see 209850.|OMIM|N|
C1969738|Premature loss of the permanent teeth.|HPO|N|
C1969758|In healthy adults, fetal hemoglobin (HbF) is present at residual levels (less than 0.06% of total hemoglobin) with over 20-fold variation. Ten to fifteen percent of adults fall within the upper tail of the distribution and have HbF levels between 0.8% and 5%, a condition referred to as heterocellular hereditary persistence of fetal hemoglobin Although these HbF levels are modest in otherwise healthy individuals, interaction of heterocellular HPFH with beta-thalassemia (see 613985) or sickle cell disease (SS; 603903) can increase HbF output in these individuals to levels that are clinically beneficial (Menzel et al., 2007).
For a general phenotypic description and a discussion of loci that may affect fetal hemoglobin levels, see HBFQTL1 (141749).|OMIM|N|
C1969783|Persistent hyperplastic primary vitreous (PHPV), also termed 'persistent fetal vasculature,' is a developmental malformation of the eye in which the primary vitreous fails to regress in utero, resulting in the presence of a retrolental fibrovascular membrane with persistence of the posterior portion of the tunica vasculosa lentis and hyaloid artery. This abnormality is usually unilateral and associated with microphthalmia, cataract, glaucoma, and congenital retinal nonattachment (see Haddad et al., 1978; Khaliq et al., 2001; Prasov et al., 2012).
PHPV shares phenotypic overlap with Norrie disease (310600).
Genetic Heterogeneity of Persistent Hyperplastic Primary Vitreous
A dominant form of PHPV has been described (PHPVAD; 611308).|OMIM|N|
C1969784|Persistent hyperplastic primary vitreous (PHPV) is a developmental malformation of the eye due to the presence of a retrolental fibrovascular membrane with persistence of the posterior portion of the tunica vasculosa lentis and hyaloid artery. This abnormality is usually unilateral and associated with microphthalmos, cataract, and glaucoma (Haddad et al., 1978).
For a discussion of genetic heterogeneity of PHPV, see 221900.|OMIM|N|
C1969785|The spectrum of ANO5 muscle disease is a continuum that ranges from asymptomatic hyperCKemia and exercise-induced myalgia to proximal and/or distal muscle weakness. The most typical presentation is limb-girdle muscular dystrophy type 2L (LGMD2L) with late-onset proximal lower-limb weakness in the fourth or fifth decade (range 15-70 years). Less common is Miyoshi-like disease (Miyoshi muscular dystrophy 3) with early-adult-onset calf distal myopathy (around age 20 years). Incidental hyperCKemia may be present even earlier. Initial symptoms are walking difficulties, reduced sports performance, and difficulties in standing on toes as well as nonspecific exercise myalgia and/or burning sensation in the calf muscles. Muscle weakness and atrophy are frequently asymmetric. Cardiac findings can include cardiomyopathy and arrhythmias and/or left ventricular dysfunction. Bulbar or respiratory symptoms have not been reported. Females have milder disease manifestations than males. Disease progression is slow in both the LGMD and distal forms; ambulation is preserved until very late in the disease course. Life span is normal.|GeneReviews|N|
C1969796|Autosomal recessive spastic ataxia-2 (SPAX2) is a neurologic disorder characterized by onset in the first 2 decades of cerebellar ataxia, dysarthria, and variable spasticity of the lower limbs. Cognition is not affected (summary by Dor et al., 2014).
For a discussion of genetic heterogeneity of spastic ataxia, see SPAX1 (108600).|OMIM|N|
C1969799|Cernunnos-XLF deficiency is a rare form of combined immunodeficiency characterized by microcephaly, growth retardation, and T and B cell lymphopenia.|ORDO|N|
C1969807|Focal dystonia, the most common form of dystonia, is often task-specific and referred to as FTSD. Specific learned motor tasks, such as writing or playing a musical instrument, can trigger muscle spasms and interfere with performance while other actions are unaffected. FTSD has a frequency of 1 in 3,400 in the general population but increases to 1 in 200 among musicians (Pullman and Hristova, 2005).|OMIM|N|
C1969809|Isobutyryl-CoA dehydrogenase (IBD) deficiency is a condition that disrupts the breakdown of certain proteins. Normally, proteins from food are broken down into parts called amino acids. Amino acids can be further processed to provide energy for growth and development. People with IBD deficiency have inadequate levels of an enzyme that helps break down a particular amino acid called valine.\n\nMost people with IBD deficiency are asymptomatic, which means they do not have any signs or symptoms of the condition. A few children with IBD deficiency have developed features such as a weakened and enlarged heart (dilated cardiomyopathy), weak muscle tone (hypotonia), and developmental delay. This condition may also cause low numbers of red blood cells (anemia) and very low blood levels of carnitine, which is a natural substance that helps convert certain foods into energy. The range of signs and symptoms associated with IBD deficiency remains unclear because very few affected individuals have been reported.|MedlinePlus Genetics|N|
C1969810|Mutations in the GABRG2 gene cause a spectrum of seizure disorders, ranging from early-onset isolated febrile seizures (FS) to childhood absence epilepsy (CAE) to generalized epilepsy with febrile seizures plus, type 3 (GEFS+3), which tends to represent a more severe phenotype. Patients with isolated febrile seizures usually have onset in the first year of life and show spontaneous remission by age 6 years. Many of these patients may later develop absence seizures, which may also spontaneously remit, whereas a few may continue to have various types of febrile and afebrile seizures that persist beyond childhood, consistent with GEFS+. There is phenotypic variability in the seizure type, even within a family carrying the same mutation, suggesting that other loci may be involved (summary by Singh et al., 1999 and Marini et al., 2003).
For a phenotypic description and a discussion of genetic heterogeneity of familial febrile seizures, see 121210.
For a general phenotypic description and a discussion of genetic heterogeneity of GEFS+, see 604233.
For a phenotypic description and discussion of genetic heterogeneity of childhood absence epilepsy, see 600131.|OMIM|N|
C1969811|Open angle glaucoma-1H (GLC1H) is characterized by elevated intraocular pressures (IOPs) associated with visual field and optic nerve abnormalities. In some families, affected members present mostly in the 'juvenile-onset' (JOAG) age range (between 3 and 35 to 40 years of age), whereas in other families, affected individuals present mostly in the 'adult-onset' (POAG) age range (after age 35 or 40 years). Patients with early-onset disease generally have a more severe presentation, with higher IOPs and higher likelihood of being blind in at least 1 eye (summary by Mackay et al., 2015; Collantes et al., 2022).
For a general phenotypic description and a discussion of genetic heterogeneity of primary open angle glaucoma (POAG), see 137760.|OMIM|N|
C1969836|The disorder described by Hirschsprung (1888) and known as Hirschsprung disease or aganglionic megacolon is characterized by congenital absence of intrinsic ganglion cells in the myenteric (Auerbach) and submucosal (Meissner) plexuses of the gastrointestinal tract. Patients are diagnosed with the short-segment form (S-HSCR, approximately 80% of cases) when the aganglionic segment does not extend beyond the upper sigmoid, and with the long-segment form (L-HSCR) when aganglionosis extends proximal to the sigmoid. Total colonic aganglionosis and total intestinal HSCR also occur (Amiel et al., 2008).
Isolated HSCR appears to be of complex nonmendelian inheritance with low sex-dependent penetrance and variable expression according to the length of the aganglionic segment, suggestive of the involvement of one or more genes with low penetrance (Amiel et al., 2008).
For a general description and a discussion of genetic heterogeneity of Hirschsprung disease (HSCR), see 142623.|OMIM|N|
C1969837|The disorder described by Hirschsprung (1888) and known as Hirschsprung disease or aganglionic megacolon is characterized by congenital absence of intrinsic ganglion cells in the myenteric (Auerbach) and submucosal (Meissner) plexuses of the gastrointestinal tract. Patients are diagnosed with the short-segment form (S-HSCR, approximately 80% of cases) when the aganglionic segment does not extend beyond the upper sigmoid, and with the long-segment form (L-HSCR) when aganglionosis extends proximal to the sigmoid. Total colonic aganglionosis and total intestinal HSCR also occur (Amiel et al., 2008).
Isolated HSCR appears to be of complex nonmendelian inheritance with low sex-dependent penetrance and variable expression according to the length of the aganglionic segment, suggestive of the involvement of one or more genes with low penetrance (Amiel et al., 2008).
For a general description and a discussion of genetic heterogeneity of Hirschsprung disease (HSCR), see 142623.|OMIM|N|
C1969879|A contracture (chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin) that prevent normal movement of one or more joints of the limbs.|HPO|N|
C1969893|FRA12A is a folate-sensitive chromosomal fragile site prone to breakage. No consistent phenotype has been observed with FRA12A, and it can be inherited without phenotypic effect (Berg et al., 2000). However, impaired intellectual development with or without other anomalies has been described in patients with over 40% of cells expressing FRA12A (Winnepenninckx et al., 2007).|OMIM|N|
C1970005|Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013).
There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, 218330).
For a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 (208500).|OMIM|N|
C1970009|A rare complex type of hereditary spastic paraplegia with characteristics of slowly progressive spastic paraplegia (with walking difficulties appearing at onset at 6-7 years of age) associated with mild intellectual disability. Brain imaging reveals thin corpus callosum, cortical and cerebellar atrophy, and pontine dysraphia. The SPG32 phenotype has been mapped to a locus on chromosome 14q12-q21.|SNOMEDCT_US|N|
C1970010|Restless legs syndrome (RLS) is a neurologic sleep/wake disorder characterized by uncomfortable and unpleasant sensations in the legs that appear at rest, usually at night, inducing an irresistible desire to move the legs. The disorder results in nocturnal insomnia and chronic sleep deprivation (Bonati et al., 2003).
For additional information and a discussion of genetic heterogeneity of restless legs syndrome (RLS), see RLS1 (102300).|OMIM|N|
C1970011|Charcot-Marie-Tooth disease type 4J is an autosomal recessive progressive neurologic disorder with a highly variable phenotype and onset ranging from early childhood to adulthood. Most patients have both proximal and distal asymmetric muscle weakness of the upper and lower limbs. There is significant motor dysfunction, followed by variably progressive sensory loss, which may be mild. Nerve conduction studies and nerve biopsies indicate demyelination as well as axonal loss (summary by Nicholson et al., 2011).
For a phenotypic description and a discussion of genetic heterogeneity of autosomal recessive demyelinating Charcot-Marie-Tooth disease, see CMT4A (214400).|OMIM|N|
C1970013|Syndrome with characteristics of congenital microphthalmia and blindness, progressive spasticity, microcephaly, seizures and profound intellectual deficit. It has been reported in three children from three unrelated families. While imaging at birth is normal, follow-up studies show progressive atrophy involving the cerebral white matter and cortex, cerebellum, brainstem, and corpus callosum. The white matter changes extend into the subcortical region, leaving only small islands of remaining cortical tissue.|SNOMEDCT_US|N|
C1970020|Restless legs syndrome (RLS) is a neurologic disorder characterized by an uncontrollable urge to move the legs during periods of rest. The majority of patients with RLS also have periodic limb movements in sleep, which are characterized by involuntary, highly stereotypical, regularly occurring limb movements that occur during sleep. Limb movements during sleep are more common in otherwise asymptomatic family members of patients with RLS compared to the general population (Stefansson et al., 2007). Thus, periodic limb movements during sleep may serve as an endophenotype for RLS. However, not all patients with RLS have limb movements during sleep, and the majority of individuals with limb movements during sleep do not have waking symptoms of RLS (Winkelman, 2007).
For additional information and a discussion of genetic heterogeneity of RLS, see RLS1 (102300).|OMIM|N|
C1970021|Syndrome with characteristics of severe psychomotor retardation, failure to thrive and intolerance to wheat and dairy products. So far, only two cases have been described. The disease is caused by mutations in the COG8 gene, which encodes a subunit of the COG complex. This complex is involved vesicle transport in the Golgi apparatus.|SNOMEDCT_US|N|
C1970027|A rare genetic developmental defect during embryogenesis disorder with characteristics of craniofacial dysmorphism (including brachycephaly, prominent forehead, sparse lateral eyebrows, severe hypertelorism, upslanting palpebral fissures, epicanthal folds, protruding ears, broad nasal bridge, pointed nasal tip, flat philtrum, anteverted nostrils, large mouth, thin upper vermilion border, highly arched palate and mild micrognathia) associated with osteopenia leading to repeated long bone fractures, severe myopia, mild to moderate sensorineural or mixed hearing loss, enamel hypoplasia, sloping shoulders and mild intellectual disability. There is evidence the disease can be caused by homozygous mutation in the IRX5 gene on chromosome 16q11.2.|SNOMEDCT_US|N|
C1970028|Malaria, a major cause of child mortality worldwide, is caused by mosquito-borne hematoprotozoan parasites of the genus Plasmodium. Of the 4 species that infect humans, P. falciparum causes the most severe forms of malaria and is the major cause of death and disease. Although less fatal, P. malariae, P. ovale, and, in particular, P. vivax infections are major causes of morbidity. The parasite cycle involves a first stage in liver cells and a subsequent stage at erythrocytes, when malaria symptoms occur. A wide spectrum of phenotypes are observed, from asymptomatic infection to mild disease, including fever and mild anemia, to severe disease, including cerebral malaria, profound anemia, and respiratory distress. Genetic factors influence the response to infection, as well as disease progression and severity. Malaria is the strongest known selective pressure in the recent history of the human genome, and it is the evolutionary driving force behind sickle-cell disease (603903), thalassemia (see 141800), glucose-6-phosphatase deficiency (300908), and other erythrocyte defects that together constitute the most common mendelian diseases of humans (Kwiatkowski, 2005; Campino et al., 2006).|OMIM|N|
C1970107|Hereditary spastic ataxia comprises a heterogeneous group of progressive neurodegenerative disorders characterized by lower-limb spasticity and generalized ataxia with dysarthria, impaired ocular movements, and gait disturbance. Spastic ataxia-1 (SPAX1) is an autosomal dominant form of the disorder with onset between the ages of 10 and 20 years. Other clinical features are supranuclear gaze palsy, hyperreflexia, hypertonicity, dystonia, pes cavus, mild ptosis, and decreased vibration sense in the lower limbs. Symptom severity is variable, but neither life span nor cognition is affected (summary by Meijer et al., 2002 and Bourassa et al., 2012).
Genetic Heterogeneity of Spastic Ataxia
See also SPAX2 (611302), caused by mutation in the KIF1C gene (603060) on chromosome 17p13; SPAX3 (611390), caused by rearrangements of the MARS2 gene (609728) on chromosome 2q33; SPAX4 (613672), caused by mutation in the MTPAP gene (613669) on chromosome 10p11; SPAX5 (614487), caused by mutation in the AFG3L2 gene (604581) on chromosome 18p11; SPAX6 (270550), caused by mutation in the SACS gene (604490) on chromosome 13q12; SPAX7 (108650); SPAX8 (617560), caused by mutation in the NKX6-2 gene (605955) on chromosome 8q21; SPAX9 (618438), caused by mutation in the CHP1 gene (606988) on chromosome 15q15; and SPAX10 (620666), caused by mutation in the COQ4 gene (612898) on chromosome 9q34.|OMIM|N|
C1970109|Aromatase excess syndrome (AEXS) is an autosomal dominant disorder characterized by increased extraglandular aromatization of steroids that presents with heterosexual precocity in males and isosexual precocity in females (Tiulpakov et al., 2005).|OMIM|N|
C1970112|A developmental defect resulting in the congenital absence of skin on the scalp vertex, often just lateral to the midline.|HPO|N|
C1970119|Long QT syndrome (LQTS) is a cardiac electrophysiologic disorder, characterized by QT prolongation and T-wave abnormalities on the EKG that are associated with tachyarrhythmias, typically the ventricular tachycardia torsade de pointes (TdP). TdP is usually self-terminating, thus causing a syncopal event, the most common symptom in individuals with LQTS. Such cardiac events typically occur during exercise and emotional stress, less frequently during sleep, and usually without warning. In some instances, TdP degenerates to ventricular fibrillation and causes aborted cardiac arrest (if the individual is defibrillated) or sudden death. Approximately 50% of untreated individuals with a pathogenic variant in one of the genes associated with LQTS have symptoms, usually one to a few syncopal events. While cardiac events may occur from infancy through middle age, they are most common from the preteen years through the 20s. Some types of LQTS are associated with a phenotype extending beyond cardiac arrhythmia. In addition to the prolonged QT interval, associations include muscle weakness and facial dysmorphism in Andersen-Tawil syndrome (LQTS type 7); hand/foot, facial, and neurodevelopmental features in Timothy syndrome (LQTS type 8); and profound sensorineural hearing loss in Jervell and Lange-Nielson syndrome.|GeneReviews|N|
C1970130|Angioma serpiginosum is an uncommon benign skin disorder characterized by asymptomatic clusters of nonpurpuric punctate erythematous lesions. The rash is asymptomatic but may lead to cosmetic problems and can be treated by laser therapy. Women are most commonly affected, and the disorder is most often sporadic, although rare families suggestive of autosomal dominant inheritance have been reported (Sandhu and Gupta, 2005). No male-to-male transmission has been described, but father-to-daughter transmissions are known. It has been suggested that the pattern of skin involvement may be due to cutaneous somatic mosaicism (Chen et al., 2006; Blinkenberg et al., 2007).
An X-linked dominant form of angioma serpiginosum (300652) has been mapped. The few males described may actually represent somatic mosaicism of an X-linked gene.|OMIM|N|
C1970144|An Alzheimer's disease that is characterized by an associated with variation in the region 1q25.|MONDO|N|
C1970147|An Alzheimer's disease that is characterized by an associated with variation in the region 1q21.|MONDO|N|
C1970149|People with familial paroxysmal nonkinesigenic dyskinesia experience episodes of abnormal movement that are brought on by alcohol, caffeine, stress, fatigue, menses, or excitement or develop without a known cause. Episodes are not induced by exercise or sudden movement and do not occur during sleep. An episode is characterized by irregular, jerking or shaking movements that range from mild to severe. In this disorder, the dyskinesia can include slow, prolonged contraction of muscles (dystonia); small, fast, "dance-like" motions (chorea); writhing movements of the limbs (athetosis); and, rarely, flailing movements of the limbs (ballismus). The dyskinesia also affects muscles in the torso and face. The type of abnormal movement varies among affected individuals, even among affected members of the same family. Individuals with familial paroxysmal nonkinesigenic dyskinesia do not lose consciousness during an episode. Most people do not experience any neurological symptoms between episodes.\n\nIndividuals with familial paroxysmal nonkinesigenic dyskinesia usually begin to show signs and symptoms of the disorder during childhood or their early teens. Episodes typically last 1 to 4 hours, and the frequency of episodes ranges from several per day to one per year. In some affected individuals, episodes occur less often with age.\n\nFamilial paroxysmal nonkinesigenic dyskinesia is a disorder of the nervous system that causes episodes of involuntary movement. Paroxysmal indicates that the abnormal movements come and go over time. Nonkinesigenic means that episodes are not triggered by sudden movement. Dyskinesia broadly refers to involuntary movement of the body.|MedlinePlus Genetics|N|
C1970160|Some affected individuals have febrile seizures before they develop childhood absence epilepsy. Febrile seizures are involuntary muscle contractions (convulsions) brought on by a high body temperature (fever).\n\nChildhood absence epilepsy is a condition characterized by recurrent seizures (epilepsy). This condition begins in childhood, usually between ages 3 and 8. Affected children have absence seizures (also known as petit mal seizures), which are brief episodes of impaired consciousness that look like staring spells. During seizures, children are not aware of and do not respond to people or activities around them. The seizures usually last several seconds and they occur often, up to 200 times each day.\n\nIn most people with childhood absence epilepsy, the absence seizures disappear in adolescence. However, some affected individuals continue to have absence seizures into adulthood, or they may develop generalized tonic-clonic seizures, which cause muscle rigidity, convulsions, and loss of consciousness, or myoclonic seizures, which are characterized by rapid, uncontrolled muscle jerks.|MedlinePlus Genetics|N|
C1970161|Meckel syndrome is an autosomal recessive pre- or perinatal lethal disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically occipital encephalocele), hepatic ductal dysplasia and cysts, and postaxial polydactyly (summary by Baala et al., 2007).
For a more complete phenotypic description and information on genetic heterogeneity of Meckel syndrome, see MKS1 (249000).|OMIM|N|
C1970163|Any retinitis pigmentosa in which the cause of the disease is a mutation in the NR2E3 gene.|MONDO|N|
C1970180|Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation (LBSL) is characterized by slowly progressive cerebellar ataxia and spasticity with dorsal column dysfunction (decreased position and vibration sense) in most individuals. The neurologic dysfunction involves the legs more than the arms. The tendon reflexes are retained. Deterioration of motor skills usually starts in childhood or adolescence, but occasionally not until adulthood. Dysarthria develops over time. Occasional findings include epilepsy; learning problems; cognitive decline; and reduced consciousness, neurologic deterioration, and fever following minor head trauma. Individuals with neonatal or early-infantile onset have a severe disease course often associated with early death. Those with childhood onset have slow progression with wheelchair dependence in the teens or twenties. Adult onset is associated with slow progression and mild impairment.|GeneReviews|N|
C1970187|CATSPER-related male infertility results from abnormalities in sperm and can be either CATSPER-related nonsyndromic male infertility (NSMI) or the deafness-infertility syndrome (DIS) when associated with non-progressive prelingual sensorineural hearing loss. Males with NSMI have infertility while females have no symptoms. Males with DIS have both infertility and hearing loss, while females have only hearing loss. Routine semen analysis typically identifies abnormalities in sperm number, morphology, and motility. Otologic examination and audiologic assessment can identify hearing loss.|GeneReviews|N|
C1970197|Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the TUSC3 gene.|MONDO|N|
C1970198|Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the GRIK2 gene.|MONDO|N|
C1970199|Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the NSUN2 gene.|MONDO|N|
C1970203|A rare genetic neurological disorder with characteristics of pregnancy complicated by polyhydramnios, severe intractable epilepsy presenting in infancy, severe hypotonia, decreased muscle mass, global developmental delay, craniofacial dysmorphism (long face, large forehead, peaked eyebrows, broad nasal bridge, hypertelorism, large mouth with thick lips), and macrocephaly due to megalencephaly and hydrocephalus in most patients. Additional features that have been reported include cardiac anomalies like atrial septal defects, diabetes insipidus and nephrocalcinosis among others.|SNOMEDCT_US|N|
C1970207|Any inflammatory bowel disease in which the cause of the disease is a mutation in the ATG16L1 gene.|MONDO|N|
C1970209|An Alzheimer's disease that is characterized by an associated with variation in the region 8p12-q22.|MONDO|N|
C1970211|A rare genetic neuromuscular disease characterized by proximal muscle weakness with an early involvement of foot and hand muscles following normal motor development in early childhood, a rapidly progressive disease course leading to generalized areflexic tetraplegia with contractures, severe scoliosis, hyperlordosis, and progressive respiratory insufficiency leading to assisted ventilation. Cranial nerve functions are normal and tongue wasting and fasciculations are absent. Milder phenotype with a moderate generalized weakness and slower disease progress was reported. There is evidence the disease is caused by homozygous mutation in the gene encoding pleckstrin homology domain-containing protein, family G member 5 (PLEKHG5) on chromosome 1p36.|SNOMEDCT_US|N|
C1970224|Asthma-related traits include clinical symptoms of asthma, such as coughing, wheezing, and dyspnea; bronchial hyperresponsiveness (BHR) as assessed by methacholine challenge test; serum IgE levels; atopy; and atopic dermatitis (Laitinen et al., 2001; Illig and Wjst, 2002; Pillai et al., 2006).
For a general phenotypic description and a discussion of genetic heterogeneity of asthma, see 600807.|OMIM|N|
C1970236|Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome is a rare, genetic, non-syndromic developmental defect of the eye disorder characterized by the association of posterior microphthalmia, retinal dystrophy compatible with retinitis pigmentosa, localized foveal schisis and optic disc drusen. Patients present high hyperopia, usually adult-onset progressive nyctalopia and reduced visual acuity, and, on occasion, acute-angle glaucoma.|ORDO|N|
C1970238|A dystonia characterized by autosomal dominant inheritance of recurrent brief involuntary hyperkinesias triggered by sudden movements that has material basis in variation in the chromosome region 16q13-q22.1.|MONDO|N|
C1970239|Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the RDX gene.|MONDO|N|
C1970242|Autism, the prototypic pervasive developmental disorder (PDD), is usually apparent by 3 years of age. It is characterized by a triad of limited or absent verbal communication, a lack of reciprocal social interaction or responsiveness, and restricted, stereotypic, and ritualized patterns of interests and behavior (Bailey et al., 1996; Risch et al., 1999). 'Autism spectrum disorder,' sometimes referred to as ASD, is a broader phenotype encompassing the less severe disorders Asperger syndrome (see ASPG1; 608638) and pervasive developmental disorder, not otherwise specified (PDD-NOS). 'Broad autism phenotype' includes individuals with some symptoms of autism, but who do not meet the full criteria for autism or other disorders. Mental retardation coexists in approximately two-thirds of individuals with ASD, except for Asperger syndrome, in which mental retardation is conspicuously absent (Jones et al., 2008). Genetic studies in autism often include family members with these less stringent diagnoses (Schellenberg et al., 2006).
For a discussion of genetic heterogeneity of autism, see 209850.|OMIM|N|
C1970243|Autism, the prototypic pervasive developmental disorder (PDD), is usually apparent by 3 years of age. It is characterized by a triad of limited or absent verbal communication, a lack of reciprocal social interaction or responsiveness, and restricted, stereotypic, and ritualized patterns of interests and behavior (Bailey et al., 1996; Risch et al., 1999). 'Autism spectrum disorder,' sometimes referred to as ASD, is a broader phenotype encompassing the less severe disorders Asperger syndrome (see ASPG1; 608638) and pervasive developmental disorder, not otherwise specified (PDD-NOS). 'Broad autism phenotype' includes individuals with some symptoms of autism, but who do not meet the full criteria for autism or other disorders. Mental retardation coexists in approximately two-thirds of individuals with ASD, except for Asperger syndrome, in which mental retardation is conspicuously absent (Jones et al., 2008). Genetic studies in autism often include family members with these less stringent diagnoses (Schellenberg et al., 2006).
For a discussion of genetic heterogeneity of autism, see 209850.|OMIM|N|
C1970245|Hereditary gingival fibromatosis is a benign disorder manifested by a slowly progressive overgrowth of the oral gingival tissues, which results in the teeth being partially or totally engulfed by keratinized gingiva (summary by Zhu et al., 2007).
For general phenotypic information and a discussion of genetic heterogeneity of hereditary gingival fibromatosis, see GINGF1 (135300).|OMIM|N|
C1970250|A small percentage of prostate cancers are hereditary and occur in families. These hereditary cancers are associated with inherited gene variants. Hereditary prostate cancers tend to develop earlier in life than non-inherited (sporadic) cases.\n\nSome cancerous tumors can invade surrounding tissue and spread to other parts of the body. Tumors that begin at one site and then spread to other areas of the body are called metastatic cancers. The signs and symptoms of metastatic cancer depend on where the disease has spread. If prostate cancer spreads, cancerous cells most often appear in the lymph nodes, bones, lungs, liver, or brain. \n\nThe severity and outcome of prostate cancer varies widely. Early-stage prostate cancer can usually be treated successfully, and some older men have prostate tumors that grow so slowly that they may never cause health problems during their lifetime, even without treatment. In other men, however, the cancer is much more aggressive; in these cases, prostate cancer can be life-threatening.\n\nEarly prostate cancer usually does not cause pain, and most affected men exhibit no noticeable symptoms. Men are often diagnosed as the result of health screenings, such as a blood test for a substance called prostate specific antigen (PSA) or a medical exam called a digital rectal exam (DRE). As the tumor grows larger, signs and symptoms can include difficulty starting or stopping the flow of urine, a feeling of not being able to empty the bladder completely, blood in the urine or semen, or pain with ejaculation. However, these changes can also occur with many other genitourinary conditions. Having one or more of these symptoms does not necessarily mean that a man has prostate cancer.\n\nProstate cancer is a common disease that affects men, usually in middle age or later. In this disorder, certain cells in the prostate become abnormal, multiply without control or order, and form a tumor. The prostate is a gland that surrounds the male urethra and helps produce semen, the fluid that carries sperm.|MedlinePlus Genetics|N|
C1970253|Deficiency of phosphoserine aminotransferase (PSAT) is characterized biochemically by low plasma and cerebrospinal fluid (CSF) concentrations of serine and glycine and clinically by intractable seizures, acquired microcephaly, hypertonia, and psychomotor retardation. Outcome is poor once the individual becomes symptomatic, but treatment with serine and glycine supplementation from birth can lead to a normal outcome (Hart et al., 2007).|OMIM|N|
C1970254|Leprosy, also called Hansen disease, is a disorder known since ancient times. It is caused by bacteria called Mycobacterium leprae and is contagious, which means that it can be passed from person to person. It is usually contracted by breathing airborne droplets from affected individuals' coughs and sneezes, or by coming into contact with their nasal fluids. However, it is not highly transmissible, and approximately 95 percent of individuals who are exposed to Mycobacterium leprae never develop leprosy. The infection can be contracted at any age, and signs and symptoms can take anywhere from several months to 20 years to appear.\n\nLeprosy affects the skin and the peripheral nerves, which connect the brain and spinal cord to muscles and to sensory cells that detect sensations such as touch, pain, and heat. Most affected individuals have areas of skin damage (cutaneous lesions) and problems with nerve function (peripheral neuropathy); however, the severity and extent of the problems vary widely. Leprosy occurs on a spectrum, in which the most severe form is called multibacillary or lepromatous, and the least severe form is called paucibacillary or tuberculoid. Patterns of signs and symptoms intermediate between these forms are sometimes called borderline forms.\n\nMultibacillary leprosy usually involves a large number of cutaneous lesions, including both surface damage and lumps under the skin (nodules). The moist tissues that line body openings such as the eyelids and the inside of the nose and mouth (mucous membranes) can also be affected, which can lead to vision loss, destruction of nasal tissue, or impaired speech. Some affected individuals have damage to internal organs and tissues. The nerve damage that occurs in multibacillary leprosy often results in a lack of sensation in the hands and feet. Repeated injuries that go unnoticed and untreated because of this lack of sensation can lead to reabsorption of affected fingers or toes by the body, resulting in the shortening or loss of these digits.\n\nPaucibacillary leprosy typically involves a small number of surface lesions on the skin. There is generally loss of sensation in these areas, but the other signs and symptoms that occur in multibacillary leprosy are less likely to develop in this form of the disorder.\n\nLeprosy has long been stigmatized because of its infectious nature and the disfigurement it can cause. This stigma can cause social and emotional problems for affected individuals. However, modern treatments can prevent leprosy from getting worse and spreading to other people. While the infection is curable, nerve and tissue damage that occurred before treatment is generally permanent.\n\nIn any form of leprosy, episodes called reactions can occur, and can lead to further nerve damage. These episodes can include reversal reactions, which involve pain and swelling of the skin lesions and the nerves in the hands and feet. People with the more severe forms of leprosy can develop a type of reaction called erythema nodosum leprosum (ENL). These episodes involve fever and painful skin nodules. In addition, painful, swollen nerves can occur. ENL can also lead to inflammation of the joints, eyes, and the testicles in men.|MedlinePlus Genetics|N|
C1970257|Concentration of the complement component factor I in the blood circulation below the lower limit of normal.|HPO|N|
C1970263|Recurrent infections by Neisseria meningitidis (one of the most common causes of bacterial meningitis), which is also known as meningococcus.|HPO|N|
C1970269|NKX2-1-related disorders range from benign hereditary chorea (BHC) to choreoathetosis, congenital hypothyroidism, and neonatal respiratory distress (also known as brain-lung-thyroid syndrome). Childhood-onset chorea, the hallmark of NKX2-1-related disorders, may or may not be associated with respiratory distress syndrome or congenital hypothyroidism. Chorea generally begins in early infancy or about age one year (most commonly) or in late childhood or adolescence, and progresses into the second decade after which it remains static or (rarely) remits. Pulmonary disease, the second most common manifestation, can include respiratory distress syndrome in neonates, interstitial lung disease in young children, and pulmonary fibrosis in older persons. The risk for pulmonary carcinoma is increased in young adults with an NKX2-1-related disorder. Thyroid dysfunction, the result of dysembryogenesis, can present as congenital hypothyroidism or compensated hypothyroidism. The risk for thyroid cancer is unknown and may not be increased. In one review, 50% of affected individuals had the full brain-lung-thyroid syndrome, 30% had involvement of brain and thyroid only, and 13% had isolated chorea only.|GeneReviews|N|
C1970291|Any tooth agenesis in which the cause of the disease is a mutation in the PAX9 gene.|MONDO|N|
C1970298|Progressive familial heart block can be divided into type I and type II, with type I being further divided into types IA and IB. These types differ in where in the heart signaling is interrupted and the genetic cause. In types IA and IB, the heart block originates in the bundle branch, and in type II, the heart block originates in the atrioventricular node. The different types of progressive familial heart block have similar signs and symptoms.\n\nMost cases of heart block are not genetic and are not considered progressive familial heart block. The most common cause of heart block is fibrosis of the heart, which occurs as a normal process of aging. Other causes of heart block can include the use of certain medications or an infection of the heart tissue.\n\nHeart block occurs when the electrical signaling is obstructed anywhere from the atria to the ventricles. In people with progressive familial heart block, the condition worsens over time: early in the disorder, the electrical signals are partially blocked, but the block eventually becomes complete, preventing any signals from passing through the heart. Partial heart block causes a slow or irregular heartbeat (bradycardia or arrhythmia, respectively), and can lead to the buildup of scar tissue (fibrosis) in the cells that carry electrical impulses. Fibrosis contributes to the development of complete heart block, resulting in uncoordinated electrical signaling between the atria and the ventricles and inefficient pumping of blood in the heart. Complete heart block can cause a sensation of fluttering or pounding in the chest (palpitations), shortness of breath, fainting (syncope), or sudden cardiac arrest and death.\n\nProgressive familial heart block is a genetic condition that alters the normal beating of the heart. A normal heartbeat is controlled by electrical signals that move through the heart in a highly coordinated way. These signals begin in a specialized cluster of cells called the sinoatrial node (the heart's natural pacemaker) located in the heart's upper chambers (the atria). From there, a group of cells called the atrioventricular node carries the electrical signals to another cluster of cells called the bundle of His. This bundle separates into multiple thin spindles called bundle branches, which carry electrical signals into the heart's lower chambers (the ventricles). Electrical impulses move from the sinoatrial node down to the bundle branches, stimulating a normal heartbeat in which the ventricles contract slightly later than the atria.|MedlinePlus Genetics|N|
C1970308|Agenesis specifically affecting one of the classes incisor, premolar, or molar.|HPO|N|
C1970309|A rare autosomal recessive form of proximal renal tubular acidosis characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequentially to urinary bicarbonate wastage. Presentation is typically with hyperchloremic acidosis, usually occurring in childhood. Extrarenal manifestations include ocular abnormalities (band keratopathy, glaucoma, and cataracts), intellectual disability and severe growth retardation. Other features like dental enamel defects, basal ganglia calcification and pancreatitis are sometimes present.|ORDO|N|
C1970344|An extremely rare form of carbohydrate deficient glycoprotein syndrome characterized clinically in the single reported case by repeated hemorrhagic incidents, including severe pulmonary hemorrhage.|SNOMEDCT_US|N|
C1970416|An autosomal recessive condition caused by mutation(s) in the ERCC4 gene, encoding DNA repair endonuclease XPF. it is characterized by characterized by cutaneous photosensitivity and progeroid features in multiple organ systems.|NCI|N|
C1970431|Pitt-Hopkins syndrome (PTHS) is characterized by significant developmental delays with moderate-to-severe intellectual disability and behavioral differences, characteristic facial features, and episodic hyperventilation and/or breath-holding while awake. Speech is significantly delayed and most individuals are nonverbal with receptive language often stronger than expressive language. Other common findings are autism spectrum disorder symptoms, sleep disturbance, stereotypic hand movements, seizures, constipation, and severe myopia.|GeneReviews|N|
C1970440|Any coronary artery disease in which the cause of the disease is a mutation in the LRP6 gene.|MONDO|N|
C1970441|Any coronary artery disease in which the cause of the disease is a mutation in the CD36 gene.|MONDO|N|
C1970455|People with SLE have episodes in which the condition gets worse (exacerbations) and other times when it gets better (remissions). Overall, SLE gradually gets worse over time, and damage to the major organs of the body can be life-threatening.\n\nAbout a third of people with SLE develop kidney disease (nephritis). Heart problems may also occur in SLE, including inflammation of the sac-like membrane around the heart (pericarditis) and abnormalities of the heart valves, which control blood flow in the heart. Heart disease caused by fatty buildup in the blood vessels (atherosclerosis), which is very common in the general population, is even more common in people with SLE. The inflammation characteristic of SLE can also damage the nervous system, and may result in abnormal sensation and weakness in the limbs (peripheral neuropathy); seizures; stroke; and difficulty processing, learning, and remembering information (cognitive impairment). Anxiety and depression are also common in SLE.\n\nSLE may first appear as extreme tiredness (fatigue), a vague feeling of discomfort or illness (malaise), fever, loss of appetite, and weight loss. Most affected individuals also have joint pain, typically affecting the same joints on both sides of the body, and muscle pain and weakness. Skin problems are common in SLE. A characteristic feature is a flat red rash across the cheeks and bridge of the nose, called a "butterfly rash" because of its shape. The rash, which generally does not hurt or itch, often appears or becomes more pronounced when exposed to sunlight. Other skin problems that may occur in SLE include calcium deposits under the skin (calcinosis), damaged blood vessels (vasculitis) in the skin, and tiny red spots called petechiae. Petechiae are caused by a shortage of cells involved in clotting (platelets), which leads to bleeding under the skin. Affected individuals may also have hair loss (alopecia) and open sores (ulcerations) in the moist lining (mucosae) of the mouth, nose, or, less commonly, the genitals.\n\nSystemic lupus erythematosus (SLE) is a chronic disease that causes inflammation in connective tissues, such as cartilage and the lining of blood vessels, which provide strength and flexibility to structures throughout the body. The signs and symptoms of SLE vary among affected individuals, and can involve many organs and systems, including the skin, joints, kidneys, lungs, central nervous system, and blood-forming (hematopoietic) system. SLE is one of a large group of conditions called autoimmune disorders that occur when the immune system attacks the body's own tissues and organs.|MedlinePlus Genetics|N|
C1970456|For a general phenotypic description and a discussion of genetic heterogeneity of pulmonary surfactant metabolism dysfunction, see SMDP1 (265120).|OMIM|N|
C1970458|Osteogenesis imperfecta (OI) is a connective tissue disorder characterized by bone fragility and low bone mass. Due to considerable phenotypic variability, Sillence et al. (1979) developed a classification of OI subtypes based on clinical features and disease severity: OI type I, with blue sclerae (166200); perinatal lethal OI type II, also known as congenital OI (166210); OI type III, a progressively deforming form with normal sclerae (259420); and OI type IV, with normal sclerae (166220). Most forms of OI are autosomal dominant with mutations in one of the 2 genes that code for type I collagen alpha chains, COL1A1 (120150) and COL1A2 (120160). Cabral et al. (2007) described a form of autosomal recessive OI, which they designated OI type VIII, characterized by white sclerae, severe growth deficiency, extreme skeletal undermineralization, and bulbous metaphyses.|OMIM|N|
C1970470|Pulmonary surfactant metabolism dysfunction-2 (SMDP2) is a rare autosomal dominant disease associated with progressive respiratory insufficiency and lung disease with a variable clinical course. The pathophysiology of the disorder is postulated to involve intracellular accumulation of a structurally defective SPC protein (Thomas et al., 2002).
For a general phenotypic description and a discussion of genetic heterogeneity of pulmonary surfactant metabolism dysfunction, see SMDP1 (265120).|OMIM|N|
C1970472|Pulmonary alveolar proteinosis is a pathologic entity characterized by intraalveolar surfactant accumulation. There are 3 clinically distinct forms: hereditary (usually congenital), secondary, and acquired. The acquired form of pulmonary alveolar proteinosis is the most common form, accounting for approximately 90% of cases. The mean age at diagnosis is 39 years and it is associated with smoking in 72% of cases. The estimated incidence and prevalence are 0.36 and 3.70 cases per million, respectively (Trapnell et al., 2003; Seymour and Presneill, 2002).
Secondary pulmonary alveolar proteinosis develops in association with conditions involving functional impairment or reduced numbers of alveolar macrophages. Such conditions include some hematologic cancers, pharmacologic immunosuppression, inhalation of inorganic dust or toxic fumes, and certain infections. Congenital pulmonary alveolar proteinosis is a rare, severe, often fatal disorder of newborns associated with pulmonary surfactant metabolism dysfunction caused by mutations in genes involved in surfactant metabolism (see, e.g., SMDP1, 265120) (Trapnell et al., 2003).
See 300770 for information on congenital PAP due to CSF2RA (306250) deficiency.|OMIM|N|
C1970473|Autism, the prototypic pervasive developmental disorder (PDD), is usually apparent by 3 years of age. It is characterized by a triad of limited or absent verbal communication, a lack of reciprocal social interaction or responsiveness, and restricted, stereotypic, and ritualized patterns of interests and behavior (Bailey et al., 1996; Risch et al., 1999). 'Autism spectrum disorder,' sometimes referred to as ASD, is a broader phenotype encompassing the less severe disorders Asperger syndrome (see ASPG1; 608638) and pervasive developmental disorder, not otherwise specified (PDD-NOS). 'Broad autism phenotype' includes individuals with some symptoms of autism, but who do not meet the full criteria for autism or other disorders. Mental retardation coexists in approximately two-thirds of individuals with ASD, except for Asperger syndrome, in which mental retardation is conspicuously absent (Jones et al., 2008). Genetic studies in autism often include family members with these less stringent diagnoses (Schellenberg et al., 2006).
For a discussion of genetic heterogeneity of autism, see 209850.|OMIM|N|
C1970474|Asthma-related traits include clinical symptoms of asthma, such as coughing, wheezing, and dyspnea; bronchial hyperresponsiveness (BHR) as assessed by methacholine challenge test; serum IgE levels; atopy; and atopic dermatitis (Laitinen et al., 2001; Illig and Wjst, 2002).
For a general phenotypic description and a discussion of genetic heterogeneity of asthma, see 600807, and of allergic rhinitis, see 607154.|OMIM|N|
C1970479|Branchiootorenal spectrum disorder (BORSD) is characterized by malformations of the outer, middle, and inner ear associated with conductive, sensorineural, or mixed hearing impairment, branchial fistulae and cysts, and renal malformations ranging from mild renal hypoplasia to bilateral renal agenesis. Some individuals progress to end-stage renal disease (ESRD) later in life. Extreme variability can be observed in the presence, severity, and type of branchial arch, otologic, audiologic, and renal abnormality from right side to left side in an affected individual and also among individuals in the same family.|GeneReviews|N|
C1970483|Any vesicoureteral reflux in which the cause of the disease is a mutation in the ROBO2 gene.|MONDO|N|
C1970484|Age at menarche is a marker of timing of puberty in females. It varies widely between individuals and is a heritable trait (summary by Perry et al., 2014).
Genetic Heterogeneity of Age at Menarche
Age at menarche has been associated with variation on chromosome 22q13. Other quantitative trait loci (QTLs) associated with age at menarche include MENAQ2 (612882) on chromosome 6q21 and MENAQ3 (612883) on chromosome 9q31.|OMIM|N|
C1970497|An crumpled radiographic appearance of the long bones, as if the long bone had been crushed together producing irregularities. This feature is the result of multiple fractures and repeated rounds of ineffective healing, as can be seen for instance in severe forms of osteogenesis imperfecta.|HPO|N|
C1970506|Rarely, individuals with primary ciliary dyskinesia have an accumulation of fluid in the brain (hydrocephalus), likely due to abnormal cilia in the brain.\n\nAnother feature of primary ciliary dyskinesia is recurrent ear infections (otitis media), especially in young children. Otitis media can lead to permanent hearing loss if untreated. The ear infections are likely related to abnormal cilia within the inner ear.\n\nPrimary ciliary dyskinesia can also lead to infertility. Vigorous movements of the flagella are necessary to propel the sperm cells forward to the female egg cell. Because their sperm do not move properly, males with primary ciliary dyskinesia are usually unable to father children. Infertility occurs in some affected females and is likely due to abnormal cilia in the fallopian tubes.\n\nApproximately 12 percent of people with primary ciliary dyskinesia have a condition known as heterotaxy syndrome or situs ambiguus, which is characterized by abnormalities of the heart, liver, intestines, or spleen. These organs may be structurally abnormal or improperly positioned. In addition, affected individuals may lack a spleen (asplenia) or have multiple spleens (polysplenia). Heterotaxy syndrome results from problems establishing the left and right sides of the body during embryonic development. The severity of heterotaxy varies widely among affected individuals.\n\nSome individuals with primary ciliary dyskinesia have abnormally placed organs within their chest and abdomen. These abnormalities arise early in embryonic development when the differences between the left and right sides of the body are established. About 50 percent of people with primary ciliary dyskinesia have a mirror-image reversal of their internal organs (situs inversus totalis). For example, in these individuals the heart is on the right side of the body instead of on the left. Situs inversus totalis does not cause any apparent health problems. When someone with primary ciliary dyskinesia has situs inversus totalis, they are often said to have Kartagener syndrome.\n\nIn the respiratory tract, cilia move back and forth in a coordinated way to move mucus towards the throat. This movement of mucus helps to eliminate fluid, bacteria, and particles from the lungs. Most babies with primary ciliary dyskinesia experience breathing problems at birth, which suggests that cilia play an important role in clearing fetal fluid from the lungs. Beginning in early childhood, affected individuals develop frequent respiratory tract infections. Without properly functioning cilia in the airway, bacteria remain in the respiratory tract and cause infection. People with primary ciliary dyskinesia also have year-round nasal congestion and a chronic cough. Chronic respiratory tract infections can result in a condition called bronchiectasis, which damages the passages, called bronchi, leading from the windpipe to the lungs and can cause life-threatening breathing problems.\n\nPrimary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). The signs and symptoms of this condition are caused by abnormal cilia and flagella. Cilia are microscopic, finger-like projections that stick out from the surface of cells. They are found in the linings of the airway, the reproductive system, and other organs and tissues. Flagella are tail-like structures, similar to cilia, that propel sperm cells forward.|MedlinePlus Genetics|N|
C1970511|Autism, the prototypic pervasive developmental disorder (PDD), is usually apparent by 3 years of age. It is characterized by a triad of limited or absent verbal communication, a lack of reciprocal social interaction or responsiveness, and restricted, stereotypic, and ritualized patterns of interests and behavior (Bailey et al., 1996; Risch et al., 1999). 'Autism spectrum disorder,' sometimes referred to as ASD, is a broader phenotype encompassing the less severe disorders Asperger syndrome (see ASPG1; 608638) and pervasive developmental disorder, not otherwise specified (PDD-NOS). 'Broad autism phenotype' includes individuals with some symptoms of autism, but who do not meet the full criteria for autism or other disorders. Mental retardation coexists in approximately two-thirds of individuals with ASD, except for Asperger syndrome, in which mental retardation is conspicuously absent (Jones et al., 2008). Genetic studies in autism often include family members with these less stringent diagnoses (Schellenberg et al., 2006).
For a discussion of genetic heterogeneity of autism, see 209850.|OMIM|N|
C1970512|Autism, the prototypic pervasive developmental disorder (PDD), is usually apparent by 3 years of age. It is characterized by a triad of limited or absent verbal communication, a lack of reciprocal social interaction or responsiveness, and restricted, stereotypic, and ritualized patterns of interests and behavior (Bailey et al., 1996; Risch et al., 1999). 'Autism spectrum disorder,' sometimes referred to as ASD, is a broader phenotype encompassing the less severe disorders Asperger syndrome (see ASPG1; 608638) and pervasive developmental disorder, not otherwise specified (PDD-NOS). 'Broad autism phenotype' includes individuals with some symptoms of autism, but who do not meet the full criteria for autism or other disorders. Mental retardation coexists in approximately two-thirds of individuals with ASD, except for Asperger syndrome, in which mental retardation is conspicuously absent (Jones et al., 2008). Genetic studies in autism often include family members with these less stringent diagnoses (Schellenberg et al., 2006).
For a discussion of genetic heterogeneity of autism, see 209850.|OMIM|N|
C1970591|An abnormality of the reflex that controls the diameter of the pupil, in response to the intensity of light that falls on the retina of the eye.|HPO|N|
C1970617|Underdevelopment of the spleen.|HPO|N|
C1970625|Underdeveloped, small left heart atrium|HPO|N|
C1970630|A developmental defect characterized by the lack of formation of the pulmonary blood vessels.|HPO|N|
C1970712|Multiple endocrine neoplasia is a group of disorders that affect the body's network of hormone-producing glands called the endocrine system. Hormones are chemical messengers that travel through the bloodstream and regulate the function of cells and tissues throughout the body. Multiple endocrine neoplasia typically involves tumors (neoplasia) in at least two endocrine glands; tumors can also develop in other organs and tissues. These growths can be noncancerous (benign) or cancerous (malignant). If the tumors become cancerous, the condition can be life-threatening.\n\nThe major forms of multiple endocrine neoplasia are called type 1, type 2, and type 4. These types are distinguished by the genes involved, the types of hormones made, and the characteristic signs and symptoms.\n\nThe most common sign of multiple endocrine neoplasia type 2 is a form of thyroid cancer called medullary thyroid carcinoma. Some people with this disorder also develop a pheochromocytoma, which is an adrenal gland tumor that can cause dangerously high blood pressure.  Multiple endocrine neoplasia type 2 is divided into three subtypes: type 2A, type 2B (formerly called type 3), and familial medullary thyroid carcinoma (FMTC). These subtypes differ in their characteristic signs and symptoms and risk of specific tumors; for example, hyperparathyroidism occurs only in type 2A, and medullary thyroid carcinoma is the only feature of FMTC. The signs and symptoms of multiple endocrine neoplasia type 2 are relatively consistent within any one family.\n\nMultiple endocrine neoplasia type 4 appears to have signs and symptoms similar to those of type 1, although it is caused by mutations in a different gene. Hyperparathyroidism is the most common feature, followed by tumors of the pituitary gland, additional endocrine glands, and other organs.\n\nMany different types of tumors are associated with multiple endocrine neoplasia. Type 1 frequently involves tumors of the parathyroid glands, the pituitary gland, and the pancreas. Tumors in these glands can lead to the overproduction of hormones. The most common sign of multiple endocrine neoplasia type 1 is overactivity of the parathyroid glands (hyperparathyroidism). Hyperparathyroidism disrupts the normal balance of calcium in the blood, which can lead to kidney stones, thinning of bones, nausea and vomiting, high blood pressure (hypertension), weakness, and fatigue.|MedlinePlus Genetics|N|
C1970723|The disorder described by Hirschsprung (1888) and known as Hirschsprung disease or aganglionic megacolon is characterized by congenital absence of intrinsic ganglion cells in the myenteric (Auerbach) and submucosal (Meissner) plexuses of the gastrointestinal tract. Patients are diagnosed with the short-segment form (S-HSCR, approximately 80% of cases) when the aganglionic segment does not extend beyond the upper sigmoid, and with the long-segment form (L-HSCR) when aganglionosis extends proximal to the sigmoid. Total colonic aganglionosis and total intestinal HSCR also occur (Amiel et al., 2008).
Isolated HSCR appears to be of complex nonmendelian inheritance with low sex-dependent penetrance and variable expression according to the length of the aganglionic segment, suggestive of the involvement of one or more genes with low penetrance (Amiel et al., 2008).
For a general description and a discussion of genetic heterogeneity of Hirschsprung disease (HSCR), see 142623.|OMIM|N|
C1970757|Any tooth agenesis in which the cause of the disease is a mutation in the EDA gene.|MONDO|N|
C1970777|Any structural anomaly of the border of the helix, which usually forms a rolled rim but is highly variable in shape.|HPO|N|
C1970807|Autism, the prototypic pervasive developmental disorder (PDD), is usually apparent by 3 years of age. It is characterized by a triad of limited or absent verbal communication, a lack of reciprocal social interaction or responsiveness, and restricted, stereotypic, and ritualized patterns of interests and behavior (Bailey et al., 1996; Risch et al., 1999). 'Autism spectrum disorder,' sometimes referred to as ASD, is a broader phenotype encompassing the less severe disorders Asperger syndrome (see ASPG1; 608638) and pervasive developmental disorder, not otherwise specified (PDD-NOS). 'Broad autism phenotype' includes individuals with some symptoms of autism, but who do not meet the full criteria for autism or other disorders. Mental retardation coexists in approximately two-thirds of individuals with ASD, except for Asperger syndrome, in which mental retardation is conspicuously absent (Jones et al., 2008). Genetic studies in autism often include family members with these less stringent diagnoses (Schellenberg et al., 2006).
For a discussion of genetic heterogeneity of autism, see 209850.|OMIM|N|
C1970822|Any X-linked syndromic intellectual disability in which the cause of the disease is a mutation in the UPF3B gene.|MONDO|N|
C1970827|Phosphoribosylpyrophosphate synthetase (PRS) superactivity comprises two phenotypes, both characterized by hyperuricemia and hyperuricosuria. The mild phenotype (~75% of affected males) with onset in the second or third decade of life is typically limited to these biochemical findings, whereas the severe phenotype (~25% of affected males) with onset in the first decade of life has in addition to these biochemical findings variable combinations of developmental delay (DD) / intellectual disability (ID), sensorineural hearing loss, hypotonia, and ataxia. In the mild phenotype, uric acid crystalluria or a urinary stone is commonly the first clinical finding, followed later by gouty arthritis if serum urate concentration is not controlled.|GeneReviews|N|
C1970841|Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the BRWD3 gene.|MONDO|N|
C1970848|Phosphoglycerate kinase-1 deficiency is an X-linked recessive condition with a highly variable clinical phenotype that includes hemolytic anemia, myopathy, and neurologic involvement. Patients can express 1, 2, or all 3 of these manifestations (Shirakawa et al., 2006).|OMIM|N|
C1970859|IMD34 results in predisposition to infections by poorly virulent mycobacteria, such as bacillus Calmette-Guerin (BCG) vaccines and nontuberculous environmental bacteria. Affected individuals are also susceptible to the more virulent species Mycobacterium tuberculosis (Bustamante et al., 2007).|OMIM|N|
C1970879|Immunodeficiency-33 (IMD33) is an X-linked recessive disorder that affects only males. It is characterized by early-onset severe infections, usually due to pneumococcus, H. influenzae, and atypical mycobacteria, although other organisms have also been detected. Immunologic investigations may show variable abnormalities or may be normal. Disturbances include dysgammaglobulinemia with hypogammaglobulinemia, decreased IgG2, aberrant levels of IgM and IgA, and decreased class-switched memory B cells. There is often poor, but variable, response to vaccination; in particular, most patients do not develop antibodies to certain polysaccharide vaccines, notably pneumococcus. Other immunologic abnormalities may include impaired NK cytotoxic function, impaired cytokine production upon stimulation with IL1B (147720) or TNFA (191160), low IL6 (147620), low IL12 (see 161561), and decreased IFNG (147570). Patients do not have overt abnormalities of T-cell proliferation, although signaling pathways, such as CD40LG (300386)/CD40 (109535), may be disturbed. There is heterogeneity in the immunologic phenotype, resulting in highly variable clinical courses, most likely due to the different effects of hypomorphic mutations. Treatment with antibiotics and IVIg is usually beneficial; hematopoietic stem cell transplantation may not be necessary, but can be effective. Features of hypohidrotic ectodermal dysplasia are generally not present, although some patients may have conical teeth or hypodontia (summary by Orange et al., 2004, Filipe-Santos et al., 2006, Salt et al., 2008, Heller et al., 2020).|OMIM|N|
C1976106|The state of a subject that represents to what extent they have abstained from consuming food or liquid.|NCI|N|
C1996949|Presence of nodules in the conjunctiva of the eye.|HPO|N|
C1996966|A medical history of having undergone radiation therapy, which is a treatment that uses ionizing radiation for purposes such as the control the growth of malignant cells in cancer treatment.|HPO|N|
C1997142|Failure to thrive (FTT), that occurs in less than five percent of FTT cases; it is caused by acute or chronic disorders that interfere with nutritional uptake, including cleft palate, malabsorption due to cystic fibrosis, and short gut syndrome.|NCI|N|
C1997202|A rare otorhinolaryngologic malformation characterized by the isolated finding of a short and immobile soft palate with anatomical disproportion of the velopharyngeal structures, preventing velopharyngeal closure. Patients present with delayed speech development and hypernasal speech.|ORPHANET|N|
C1997217|A grade I or grade II glioma arising from the central nervous system. This category includes pilocytic astrocytoma, diffuse astrocytoma, subependymal giant cell astrocytoma, ependymoma, oligodendroglioma, oligoastrocytoma, and angiocentric glioma.|NCI|N|
C1997249|A rare, acquired peripheral neuropathy disease characterized by chronic neuropathic pain involving the sensory territory of the pudendal nerve (from clitoris to anus or from penis to anus), aggravated by sitting and for which no organic cause can be found by imaging studies or laboratory tests. It is often associated with pelvic dysfunction.|ORDO|N|
C1997354|An electrocardiographic finding of J point and ST segment elevation in the absence of other signs of acute ischemia or pericarditis. (CDISC)|NCI|N|
C1997362|Hinman syndrome (HS) or non-neurogenic neurogenic bladder is a voiding dysfunction of the bladder of neuropsychological origin that is characterized by functional bladder outlet obstruction in the absence of neurologic deficits.|ORDO|N|
C1997740|A dystonia that affects two or more adjacent parts of the body.|MONDO|N|
C1997869|Past medical history of surgical breast removal.|HPO|N|
C1997910|Citrin deficiency can manifest in newborns or infants as neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD), in older children as failure to thrive and dyslipidemia caused by citrin deficiency (FTTDCD), and in adults as recurrent hyperammonemia with neuropsychiatric symptoms in citrullinemia type II (CTLN2). Often citrin deficiency is characterized by strong preference for protein-rich and/or lipid-rich foods and aversion to carbohydrate-rich foods. NICCD. Children younger than age one year have a history of low birth weight with growth restriction and transient intrahepatic cholestasis, hepatomegaly, diffuse fatty liver, and parenchymal cellular infiltration associated with hepatic fibrosis, variable liver dysfunction, hypoproteinemia, decreased coagulation factors, hemolytic anemia, and/or hypoglycemia. NICCD is generally not severe and symptoms often resolve by age one year with appropriate treatment, although liver transplantation has been required in rare instances. FTTDCD. Beyond age one year, many children with citrin deficiency develop a protein-rich and/or lipid-rich food preference and aversion to carbohydrate-rich foods. Clinical abnormalities may include growth restriction, hypoglycemia, pancreatitis, severe fatigue, anorexia, and impaired quality of life. Laboratory changes are dyslipidemia, increased lactate-to-pyruvate ratio, higher levels of urinary oxidative stress markers, and considerable deviation in tricarboxylic acid (TCA) cycle metabolites. One or more decades later, some individuals with NICCD or FTTDCD develop CTLN2. CTLN2. Presentation is sudden and usually between ages 20 and 50 years. Manifestations are recurrent hyperammonemia with neuropsychiatric symptoms including nocturnal delirium, aggression, irritability, hyperactivity, delusions, disorientation, restlessness, drowsiness, loss of memory, flapping tremor, convulsive seizures, and coma. Symptoms are often provoked by alcohol and sugar intake, medication, and/or surgery. Affected individuals may or may not have a prior history of NICCD or FTTDCD.|GeneReviews|N|
C1997984|Inability of the heart to increase its rate commensurate with increased activity or demand.|HPO|N|
C1998172|Disease that occurs as a consequence of immunosuppression in a recipient of a solid organ or bone marrow transplant, or as a consequence of the transplantation.|MONDO|N|
C1998313|A periodic beat-to-beat variation in the amplitude or shape of the T wave in an EKG.|HPO|N|
C1998633|Change in or modification of the gastrointestinal system|CCC|N|
C1998721|Constructive interactions and patterns of relating amongst members of the community.|SNOMEDCT_US|N|
C1998739|Increased chance of more than adequate intake or absorption of food or,nutrients|CCC|N|
C1998980|Excessive tension of one who gives physical or emotional care and support to another person or patient|CCC|N|
C1998991|Inability to sustain a safe, healthy environment|CCC|N|
C1998993|Impaired ability to clothe and groom oneself|CCC|N|
C1998994|Impaired ability to feed oneself|CCC|N|
C1998996|Impaired ability to urinate or defecate for oneself|CCC|N|
C1998997|Decrease in the ability to guard self from internal or external threats such as illness or injury.|NANDA-I|N|
C1998998|Change in or modification of personal identity|CCC|N|
C1999000|Inadequate inhalation or exhalation|CCC|N|
C1999002|Inadequate personal response to problems or difficulties|CCC|N|
C1999006|Imbalance in the normal feeding habits of an infant|CCC|N|
C1999008|Inability to tolerate decreased levels of ventilator support|CCC|N|
C1999010|Inability to initiate and/or maintain independent breathing that is adequate to support life.|NANDA-I|N|
C1999012|Struggle with parental position and responsibilities|CCC|N|
C1999016|A pattern of nutrient intake, which can be strengthened.|NANDA-I|N|
C1999017|A pattern of providing an environment for children to nurture growth and development, which can be strengthened.|NANDA-I|N|
C1999266|A disorder characterized by melancholic feelings of grief or unhappiness.|NCI|N|
C2004062|The aggregate of past events; the continuum of events occurring in succession leading from the past to the present; a record or narrative description of past events.|NCI|N|
C2004284|An adverse event resulting in a change in a patient''s intellectual capacity, emotional state, or general mental health.|NCI|N|
C2004435|Restriction of arterial blood supply to the intestine associated with insufficient oxygenation to support the metabolic requirements of the tissue. Acute intestinal ischemia can involve the small or large intestine, and usually presents with sudden severe non-specific abdominal pain.|HPO|N|
C2004456|A type of cirrhosis characterized by the presence of large regenerative nodules.|HPO|N|
C2004458|A benign neoplastic melanocytic proliferation affecting the meninges or the eye.|NCI|N|
C2004461|Any disease in which the causes of the disease is a perturbation of the lower digestive tract leading to its dysfunction.|MONDO|N|
C2004464|The method by which conception or impregnation is prevented. This may be achieved through the use of devices, drugs or surgery.|NCI|N|
C2004480|An increase in nuclear size and amount of cytoplasm of a cell. The cells or nucleus may be slightly irregular and/or may be polyploid.|NCI|N|
C2004487|Recurrent or persistent involuntary spasms of the musculature of the outer third of the vagina that interferes with vaginal penetration, and which causes personal distress.|HPO|N|
C2004489|Backward flow of refluxed gastric content into the mouth or hypopharynx.|SNOMEDCT_US|N|
C2004491|A permanent mark left on the skin in the process of wound healing.|NCI|N|
C2004493|A malignant disease of the B-LYMPHOCYTES in the bone marrow and/or blood.|MSH|N|
C2004576|A primary malignant neoplasm of the vagina composed of malignant melanocytes.|NCI|N|
C2004632|Usually, three large arteries arise from the arch of the aorta|HPO|N|
C2007027|A rare carcinoma that arises from the epididymis.|NCI|N|
C2007041|A carcinoma that arises from the organs that comprise the urinary tract. This category includes renal pelvis carcinoma, ureter carcinoma, bladder carcinoma, urethral carcinoma, urothelial carcinoma, adenocarcinoma of the urinary tract, clear cell adenocarcinoma of the urinary tract, diverticular carcinoma of the urinary tract, endometrioid adenocarcinoma of the urinary tract, and squamous cell carcinoma of the urinary tract.|NCI|N|
C2007059|A rare type of pancreatic ductal adenocarcinoma with composition of non-neoplastic osteoclast-like multinucleated giant cells, a mononuclear histiocytic component and the neoplastic cells, which vary from spindle-shaped to epithelioid and can be very large and pleomorphic. Clinical features of pancreatic ductal adenocarcinoma include abdominal pain, nausea, weight loss, jaundice, and new-onset diabetes.|SNOMEDCT_US|N|
C2007068|A carcinoma that arises from the extrahepatic bile ducts and it is characterized by the presence of a sarcomatous component.|NCI|N|
C2007070|A carcinoma that arises from the gallbladder and it is characterized by the presence of a sarcomatous component. The sarcomatous component may contain osteosarcoma, chondrosarcoma, or rhabdomyosarcoma elements.|NCI|N|
C2007076|An aggressive carcinoma with a sarcomatous component that arises from the liver. The sarcomatous component is clonally related to the more differentiated, carcinomatous component. The prognosis is usually poor.|NCI|N|
C2010353|An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the gallbladder. It is characterized by the presence of malignant large cells.|NCI|N|
C2010420|A malignant central nervous system neoplasm characterized by the presence of poorly differentiated or undifferentiated neuroepithelial cells and ganglion cells.|NCI|N|
C2010560|Inflammation of the stomach resulting in bleeding.|NCI|N|
C2011252|A rare undifferentiated carcinoma that arises from the larynx. It is characterized by the presence of multiple bizarre multinucleated giant cells. The prognosis is poor.|NCI|N|
C2012260|Glycogen storage disease (GSD) due to liver phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism characterized by hepatomegaly, growth retardation, and mild delay in motor development during childhood.|ORDO|N|
C2012261|An uncommon, usually aggressive adenocarcinoma of the breast characterized by the presence of clear cells that contain glycogen.|NCI|N|
C2012942|A partial or complete obstruction of the ophthalmic artery (branch of the internal carotid artery) that may lead to severe ischemia of the affected globe and associated ocular tissues. It can present with a similar picture to central retinal artery occlusion; however, profound choroidal ischaemia also occurs.|HPO|N|
C2013199|Negative, defiant, or hostile behavior directed towards authority.|NCI|N|
C2015861|Multiple fetuses birthed live or dead in a single pregnancy regardless of gestational age, and regardless of whether the fetuses were birthed on different dates.|NCI|N|
C2016599|An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the area between the shoulder blades.|HPO|N|
C2017869|Reduced number or density of facial hair.|HPO|N|
C2018408|Sarcomatoid (spindle cell) carcinomas of the tongue is a variant of squamous carcinoma of tongue that is monoclonal, having evolved from a conventional squamous carcinoma with dedifferentiation associated with sarcomatoid transformation.|HPO|N|
C2018769|A follicular lymphoma occurring in the spleen.|NCI|N|
C2018774|A diffuse large B-cell lymphoma occurring in the spleen.|NCI|N|
C2018776|A lymphoplasmacytic lymphoma occurring in the spleen.|NCI|N|
C2018777|A mantle cell lymphoma occurring in the spleen.|NCI|N|
C2019443|A usually high grade squamous cell carcinoma that arises from the ovary and is not associated with a germ cell tumor. The prognosis is poor.|NCI|N|
C2019460|A rare squamous cell carcinoma that arises from the urinary tract. Almost all cases have been reported in the bladder. Causes include urinary stasis, recurrent chronic inflammation, and smoking. In regions where schistosomiasis is endemic, it is the major etiologic factor of bladder squamous cell carcinoma.|NCI|N|
C2019511|A benign epithelial neoplasm that arises from the anal canal. It is characterized by a papillary growth pattern and a proliferation of neoplastic squamous cells without morphologic evidence of malignancy.|NCI|N|
C2019882|The relationship of the presenting part of the fetus to the maternal ischial spines during labor and delivery.|NCI|N|
C2020284|Stickler syndrome is a connective tissue disorder that can include ocular findings of myopia, cataract, and retinal detachment; hearing loss that is both conductive and sensorineural; midfacial underdevelopment and cleft palate (either alone or as part of the Robin sequence); and mild spondyloepiphyseal dysplasia and/or precocious arthritis. Variable phenotypic expression of Stickler syndrome occurs both within and among families; interfamilial variability is in part explained by locus and allelic heterogeneity.|GeneReviews|N|
C2020625|Group B Streptococcus, also known as Streptococcus agalactiae, colonizes the vaginal and gastrointestinal tracts of up to 45% of healthy women and may infect neonates in utero or during delivery, causing neonatal sepsis in 1-2% of colonized neonates. GBS infection may also occur in nonpregnant (particularly elderly) adults with underlying medical conditions, presenting as urinary tract infection, pneumonia, or soft-tissue infection.|NCI|N|
C2024309|A diffuse large B-cell lymphoma that arises from the heart.|NCI|N|
C2024965|Carious lesion of any cervical (gingival) or other smooth surface area of tooth.|SNOMEDCT_US|N|
C2025281|A spasmodic contraction of the muscles of the hands, especially the wrists, such as during alkalosis or tetany. (ACC-AHA)|NCI|N|
C2025392|A type of Congenital cataract in which the opacities occupy the subcapsular cortex at the anterior or posterior pole of the lens.|HPO|N|
C2026186|A diffuse large B-cell lymphoma arising from the central nervous system.|NCI|N|
C2026514|A progressive peroxisomal disease, characterized by endocrine dysfunction (adrenal failure and sometimes testicular insufficiency), progressive myelopathy and peripheral neuropathy, and leukodystrophy. Age of onset is highly variable, but often in the first decade.|ORDO|N|
C2029348|Autonomic disorder involving unilateral hyperhydrosis and flushing of the head and neck.|SNOMEDCT_US|N|
C2029938|An auscultated finding in which the semilunar valve closure sounds occur simultaneously. (ACC-AHA)|NCI|N|
C2030323|A measurement of an individual''s height in relationship to age, in comparison to a reference percentile curve.|NCI|N|
C2030354|An angiosarcoma that arises from the heart. It most often arises in the right atrium near the atrioventricular groove. The prognosis is poor.|NCI|N|
C2030691|A rare variant of gallbladder adenocarcinoma. It is characterized by the presence of a malignant glandular epithelial infiltrate that resembles hepatocellular carcinoma.|NCI|N|
C2032780|A fistula which connects the oral cavity and the pharyngeal area via the aspects of the soft palate.|HPO|N|
C2033037|A usually malignant pancreatic neuroendocrine tumor producing vasoactive intestinal peptide (VIP). It is associated with watery diarrhea, hypokalemia, and hypochlorhydria or achlorhydria. One third of cases are metastatic at the time of diagnosis.|NCI|N|
C2033294|A variant of squamous cell carcinoma that arises from the larynx. It is characterized by an exophytic and papillary growth usually in the supraglottic area. The prognosis is favorable.|NCI|N|
C2033396|A papule with yellow color.|HPO|N|
C2036842|Partial displacement of the lens in the inferior direction.|HPO|N|
C2036843|Partial dislocation of the lens in a superior direction.|HPO|N|
C2037047|An accumulation of blood located between the retinal pigment epithelium (RPE) and Bruch's membrane.|HPO|N|
C2039417|An extremely rare chondrosarcoma arising from the synovium either as a de novo neoplasm or secondary to synovial chondromatosis.|NCI|N|
C2044987|A neoplastic process that affects the glandular epithelial cells of the cervix. There is no evidence of invasion. It is classified as low or high grade.|NCI|N|
C2046300|Rare involvement of the central nervous system by histiocytic sarcoma.|NCI|N|
C2046622|A Hodgkin lymphoma that arises from the central nervous system.|NCI|N|
C2046647|A rare Hodgkin lymphoma that arises in and is confined to the lung at the time of diagnosis.|NCI|N|
C2046665|A very rare Hodgkin lymphoma that manifests initially in a salivary gland.|NCI|N|
C2046671|An exceedingly rare Hodgkin lymphoma that arises from the thyroid gland.|NCI|N|
C2047516|A circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point that is composed of localized hyperkeratosis (the latter may be demonstrated histopathologically).|HPO|N|
C2047793|A white or lighter patch of skin that may appear anywhere on the body and are caused by decreased skin pigmentation.|HPO|N|
C2051831|A defect of the chest wall characterized by a depression of the sternum, giving the chest ("pectus") a caved-in ("excavatum") appearance.|HPO|N|
C2053435|Lack of paramedian peaks and median notch of the upper lip vermilion.|HPO|N|
C2053440|Height of the vermilion of the medial part of the lower lip more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the lower lip in the frontal view (subjective).|HPO|N|
C2057625|A form of testicular germ cell tumor occurring in the third decade of life with a usually painless unilateral mass in the scrotum or, in some cases, with gynaecomastia and/or back and flack pain. The clinical course is more aggressive than testicular seminomatous germ cell tumors with rapid involvement of blood vessels and a poorer prognosis. Histologically, the tumour can be either undifferentiated (embryonal carcinoma), differentiated (teratoma, yolk sac tumor, choriocarcinoma), or can consist of a mixture of seminomatous and nonseminomatous components.|ORDO|N|
C2059391|An electrocardiographic finding of an organized, regular atrial rhythm with atrial rate between 101 and 240 beats per minute. The P wave morphology must be distinct from the sinus P wave morphology. (CDISC)|NCI|N|
C2059610|A quantitative measurement of the amount of retrograde blood flow across the orifice of the mitral valve expressed as a percentage of the anterograde flow.|NCI|N|
C2059611|A quantitative measurement of the amount of retrograde blood flow across the orifice of the mitral valve.|NCI|N|
C2059613|A quantitative measurement of the amount of retrograde blood flow across the orifice of the aortic valve expressed as a percentage of the anterograde flow.|NCI|N|
C2059614|A quantitative measurement of the amount of retrograde blood flow across the orifice of the aortic valve.|NCI|N|
C2062349|An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the colon.|HPO|N|
C2062366|A condition in which a person has reduced protein production from one of the four alpha-globin alleles.|NCI|N|
C2062367|Congenital deficiencies of fibrinogen are coagulation disorders characterized by bleeding symptoms ranging from mild to severe resulting from reduced quantity and/or quality of circulating fibrinogen. Afibrinogenemia (complete absence of fibrinogen) and hypofibrinogenemia (reduced plasma fibrinogen concentration) (see these terms) correspond to quantitative anomalies of fibrinogen while dysfibrinogenemia (see this term) corresponds to a functional anomaly of fibrinogen. Hypo- and dysfibrinogenemia may be frequently combined (hypodysfibrinogenemia).|ORDO|N|
C2062388|Adrenocorticotropic hormone independent macronodular adrenal hyperplasia (AIMAH) is a rare cause of Cushing syndrome with characteristics of nodular enlargement of both adrenal glands that produce excess cortisol. The disease presents a bimodal age distribution with a rare subset presenting in the first years of life, particularly associated to McCune-Albright syndrome. Most patients present in their fifth or sixth decade. The adrenal glands can be massively enlarged bilaterally with the presence of numerous macronodules; however diffuse adrenal enlargement without nodules has been described. AIMAH is most often reported as sporadic but there are increasing reports of familial cases with autosomal dominant transmission.|SNOMEDCT_US|N|
C2062513|A rare hemangioma arising from the kidney.|NCI|N|
C2062712|Perinatal nerve injury involving the BRACHIAL PLEXUS involving a weak or paralyzed upper extremity.|MSH|N|
C2062848|A type of inferior mediastinal mass that is located behind the pericardium.|HPO|N|
C2062854|A type of mediastinal mass that is located above the thoracic plane (a horizontal line that runs from the manubriosternal joint (sternal angle or angle of Louis) to the inferior endplate of T4).|HPO|N|
C2062889|Narrowing of the lumen of the right or left pulmonary artery branch.|NCI|N|
C2062905|Percent luminal narrowing of the left main coronary artery, at the point of maximal stenosis of the left main coronary artery.|NCI|N|
C2062952|Rounded atelectasis is rounded collapsed lung associated with invaginated fibrotic pleura and thickened and fibrotic interlobular septa. Most frequently, it is the consequence of an asbestos-induced exudative pleural effusion with resultant pleural scarring, but it may occur with any cause of pleural fibrosis. On chest radiographs, rounded atelectasis appears as a mass abutting a pleural surface, usually in the posterior part of a lower lobe. Distorted vessels have a curvilinear disposition as they converge on the mass (the comet tail sign). The degree of lobar retraction depends on the volume of atelectatic lung. It is almost invariably associated with other signs of pleural fibrosis (eg, blunting of costophrenic angle). CT is more sensitive for the detection and display of the characteristic features of rounded atelectasis. An additional sign is homogeneous uptake of contrast medium in the atelectatic lung.|HPO|N|
C2062969|A hemangioma that arises from the mediastinum. It can be of the capillary or the cavernous type.|NCI|N|
C2062986|A primary or metastatic malignant neoplasm that affects the bones and structures of the skull.|NCI|N|
C2063079|A condition caused by long-lasting and ongoing infection with the spirochete Borrelia burgdorferi resulting in progressive inflammatory neurologic, neuromuscular, and dermatologic manifestations including ENCEPHALITIS; MYELITIS; acrodermatitis chronica atrophicans; and ARTHRITIS.|MSH|N|
C2063099|A non-metastasizing neoplasm that arises from the ovary and is characterized by the presence of glands or cysts lined by benign endometrial-type cells. It includes endometrioid adenofibroma, endometrioid cystadenofibroma, and endometrioid cystadenoma.|NCI|N|
C2063326|Right ventricular dysfunction (global or regional) with functional and morphological right ventricular abnormalities, with or without left ventricular disease.|HPO|N|
C2063331|An atrial septal defect characterized by a deficiency in the tissue separating the coronary sinus from the left atrium (LA). This results in partial or complete unroofing of the coronary sinus leading to a predominantly left-to-right shunt through the coronary sinus (LA to coronary sinus to right atrium [RA]). The orifice of the ostium is frequently large because of the increased flow. From the RA side, the defect is located at the level of the coronary sinus ostium and may also include some deficiency in atrial tissue around the ostium. From the LA side, the size can be variable depending on the degree of unroofing of the coronary sinus.|HPO|N|
C2063380|A localized, abnormal dilation or bulging of a portion of the right ventricular wall.|HPO|N|
C2063478|Posterior corneal dystrophies refers to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal endothelium and Descemet membrane, and variable effects on vision depending on the type of dystrophy.|ORDO|N|
C2063616|Thrombocytopenia caused by ingested or injected drugs. It may be the result of decreased platelet production due to bone marrow suppression or increased rate of platelet destruction.|NCI|N|
C2063737|Stenosis of the pulmonary artery that occurs above the valve.|NCI|N|
C2063866|Failure to respond to two or more trials of antidepressant monotherapy or failure to respond to four or more trials of different antidepressant therapies. (Campbell''s Psychiatric Dictionary, 9th ed.)|MSH|N|
C2063869|A mature teratoma that arises from the pancreas.|NCI|N|
C2063870|A non-invasive mucinous cystic neoplasm that arises from the pancreas and is characterized by the presence of moderate dysplasia. The neoplastic columnar mucin-producing epithelial cells form papillary projections or crypt-like invaginations. There is cellular pseudostratification and mitotic activity present.|NCI|N|
C2063873|A mucinous cystadenocarcinoma that involves the pancreas.|MONDO|N|
C2063878|A carcinoma that arises from the pancreas showing a mixture of acinar and neuroendocrine malignant cells.|NCI|N|
C2063886|An esophageal carcinoma characterized by the presence of distinguishable squamous and glandular carcinomatous components.|NCI|N|
C2064234|A tumor of the anal margin.|HPO|N|
C2064241|An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the anal canal. It is characterized by the presence of malignant small cells.|NCI|N|
C2064242|A usually aggressive malignant epithelial neoplasm that arises from the anal canal. It is composed of malignant cells which do not display evidence of glandular or squamous differentiation.|NCI|N|
C2064401|A rare carcinoma that arises from the liver. The diagnosis is made by immunohistochemical studies. Morphologic studies alone cannot establish the diagnosis of carcinoma or further subclassify the malignant tumor.|NCI|N|
C2064402|A low-grade malignant blood vessel neoplasm that arises from the liver. It is characterized by the presence of epithelioid endothelial cells. The neoplastic cells are arranged in cords and nests, which are embedded in a myxoid to hyalinized stroma. Patients may be asymptomatic or present with an abdominal mass, ascites, and jaundice.|NCI|N|
C2064409|A mucinous cystic neoplasm that arises from the intrahepatic bile ducts and it is associated with an invasive carcinomatous component.|NCI|N|
C2064411|A Kaposi sarcoma that arises from the liver.|NCI|N|
C2064425|An adenoma that arises from the extrahepatic bile ducts. It is characterized by the presence of tubular and papillary growth patterns.|NCI|N|
C2064429|An adenocarcinoma that arises from the extrahepatic bile ducts. It is characterized by the presence of neoplastic tubular glands lined by columnar cells or neoplastic glands lined by goblet cells.|NCI|N|
C2064434|A malignant mesenchymal tumor with skeletal muscle differentiation, arising from the extrahepatic bile ducts.|NCI|N|
C2064435|A Kaposi sarcoma that arises from the extrahepatic bile ducts.|NCI|N|
C2064465|A rare sebaceous carcinoma that arises from the salivary glands.|NCI|N|
C2065005|A past medical history of a recent blood transfusion.|HPO|N|
C2068043|The lesion considered to be responsible for the acute coronary syndrome. (ACC)|NCI|N|
C2069922|ISSVA Classification of Vascular Anomalies ©2018 International Society for the Study of Vascular Anomalies Available at ""issva.org/classification"" Accessed May 04, 2022.|SNOMEDCT_US|N|
C2069923|ISSVA Classification of Vascular Anomalies ©2018 International Society for the Study of Vascular Anomalies Available at ""issva.org/classification"" Accessed May 23, 2022.|SNOMEDCT_US|N|
C2073348|The location of the radiating chest pain is in the neck.|NCI|N|
C2075522|A malignant neoplasm of the ovary with an invasive epithelial component and a fibrotic stroma. The epithelial component is characterized by the presence of malignant epithelial cells with clear cytoplasm.|NCI|N|
C2075546|An adenocarcinoma that arises from the urinary tract and is characterized by the presence of malignant cells with clear and eosinophilic cytoplasm arranged in tubulo-cystic, papillary, or solid growth patterns. It usually arises from the urethra but can also occur in the bladder. It predominantly affects females and usually has an aggressive clinical course.|NCI|N|
C2076600|An acute viral respiratory infection caused by a strain of influenza virus which is endemic in swine (pigs). Rarely reported in humans prior to 2009, the disease is caused by a mutated strain of swine influenza A (H1N1) virus. It is highly contagious and spreads mainly through coughing and sneezing. Signs and symptoms include fever, chills, coughing, sore throat headache, muscle ache, and generalized weakness. Antiviral medications are most effective in the first two days of the illness.|NCI|N|
C2079538|MFN2 hereditary motor and sensory neuropathy (MFN2-HMSN) is a classic axonal peripheral sensorimotor neuropathy, inherited in either an autosomal dominant (AD) manner (~90%) or an autosomal recessive (AR) manner (~10%). MFN2-HMSN is characterized by more severe involvement of the lower extremities than the upper extremities, distal upper-extremity involvement as the neuropathy progresses, more prominent motor deficits than sensory deficits, and normal (>42 m/s) or only slightly decreased nerve conduction velocities (NCVs). Postural tremor is common. Median onset is age 12 years in the AD form and age eight years in the AR form. The prevalence of optic atrophy is approximately 7% in the AD form and approximately 20% in the AR form.|GeneReviews|N|
C2080645|Seizures evoked by visual stimuli. This includes clinical seizures induced by strobe lighting, television and other screens, flickering environmental lighting and self-induction by causing a strobe effect.|HPO|N|
C2081572|A condition in which the placental edge is within 2 cm of but not covering the cervical os.|NCI|N|
C2081594|Asymmetric head shape, which is usually a combination of unilateral occipital flattening with ipsilateral frontal prominence, leading to rhomboid cranial shape.|HPO|N|
C2103415|A benign or malignant neoplasm that affects the basal ganglia.|NCI|N|
C2103465|A neoplasm that arises from the posterior cranial fossa. Examples include meningiomas and medulloblastomas.|NCI|N|
C2103468|A benign or malignant neoplasm that affects the optic chiasm.|NCI|N|
C2103575|A rare autoimmune disorder in which patients present with overlapping symptoms of systemic scleroderma and polymyositis or dermatomyositis.|NCI|N|
C2106654|A history of any allergic reaction that the patient has had.|NCI|N|
C2108093|An electrocardiographic finding of episodic supraventricular tachycardia with abrupt onset and termination.|NCI|N|
C2108146|Chronic loss of joint motion of the interphalangeal joint of the thumb due to structural changes in non-bony tissue. This joint is also called Articulatio interphalangealis pollicis.|HPO|N|
C2108151|Chronic loss of joint motion of the metacarpophalangeal joint of the thumb due to structural changes in non-bony tissue. This joint is also called Articulatio metacarpophalangealis pollicis.|HPO|N|
C2108396|A spotted fever that has material basis in Rickettsia japonica, which is transmitted by ticks (Dermacentor taiwanensis and Haemaphysalis flava). The infection has symptom fever, has symptom eschars, has symptom regional adenopathy, and has symptom rash on extremities.|MONDO|N|
C2109263|Kaposi sarcoma arising from the oral cavity.|NCI|N|
C2109272|An inflammatory cellular deposit deposited on the corneal endothelium and visible as spots on the cornea.|HPO|N|
C2109308|A squamous cell lung carcinoma characterized by the presence of keratinization, pearl formation, and/or intercellular bridges.|NCI|N|
C2109334|A squamous cell carcinoma that arises from the vulva and is characterized by the presence of keratin pearls.|NCI|N|
C2111044|A follicular lymphoma that arises from the lacrimal gland.|NCI|N|
C2111049|A diffuse large B-cell lymphoma that arises from the lacrimal gland.|NCI|N|
C2111671|A rare, highly aggressive carcinoma that arises from the salivary gland, predominantly the parotid gland. It is characterized by the presence of large pleomorphic malignant cells with or without neuroendocrine differentiation. Patients usually present with a rapidly growing mass.|NCI|N|
C2111706|An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the anal canal. It is characterized by the presence of malignant large cells.|NCI|N|
C2111708|An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the appendix. It is characterized by the presence of malignant large cells.|NCI|N|
C2111710|An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the bladder. It is characterized by the presence of malignant large cells.|NCI|N|
C2111716|An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the extrahepatic bile ducts. It is characterized by the presence of malignant large cells.|NCI|N|
C2111725|An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the kidney. It is characterized by the presence of malignant large cells.|NCI|N|
C2111730|An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the liver. It is characterized by the presence of malignant large cells.|NCI|N|
C2111748|A large cell carcinoma that arises from the salivary glands and exhibits neuroendocrine differentiation.|NCI|N|
C2112129|Polydactyly of the foot most commonly refers to the presence of six toes on one foot. Postaxial polydactyly affects the lateral ray and the duplication may range from a well-formed articulated digit to a rudimentary digit.|HPO|N|
C2112942|Duplication of all or part of the first ray.|HPO|N|
C2113596|Precocious puberty for which no underlying cause can be identified.|NCI|N|
C2115875|Incoherent, disorganized or illogical thought processes.|NCI|N|
C2116052|A primary carcinoma of the thyroid gland containing a medullary carcinoma component that is immunohistochemically positive for calcitonin, and follicular carcinoma component that is immunohistochemically positive for thyroglobulin.|NCI|N|
C2116059|A rare follicular lymphoma primarily involving the thyroid gland.|NCI|N|
C2116675|An incision that involves deep soft tissues.|NCI|N|
C2116713|An incision that involves only the skin or subcutaneous tissue.|NCI|N|
C2117390|Divergence of digits along the anteroposterior axis (in the plane of the sole).|HPO|N|
C2118097|Absence of sex glands (gonads are the organs that produce gametes; testis in males and ovary in females).|HPO|N|
C2118460|An acute and self-limited inflammatory disease of the large intestine (colon, cecum and rectum).|HPO|N|
C2118574|A benign or malignant neoplasm that affects the corpus callosum.|NCI|N|
C2121436|An increase in voltage of the PR segment above baseline.|HPO|N|
C2121458|An electrocardiographic finding of PR segment depression below the iso-electric line in multiple precordial and/or limb leads. (CDISC)|NCI|N|
C2126089|Reduced grip strength. Gripping is the motion by which the hand tightly grasps an object or other hand.|HPO|N|
C2126312|A solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter and that has a yellow color.|HPO|N|
C2129214|Frequent, loose, and watery stools are noted in most infants, even if they are fed formula, until they are six to eight weeks old; after that, the stools become firmer and less frequent.|NCI|N|
C2129310|possessing both homosexual and heterosexual preferences; or true hermaphroditism, having gonads of both sexes.|CSP|N|
C2132198|The presence of one or more bullae on the skin, defined as fluid-filled blisters more than 5 mm in diameter with thin walls.|HPO|N|
C2136015|An indication that an individual is living in an assisted living facility.|NCI|N|
C2136443|An indication that an individual lives with their stepfather.|NCI|N|
C2136444|An indication that an individual lives with their stepmother.|NCI|N|
C2136733|An inflammatory reaction from ultraviolet radiation characterized by transient redness, tenderness and occasional blistering.|MONDO|N|
C2138388|Lack of response to scratching of the skin of the medial thigh, which in males normally elicits a brisk, short elevation of the ipsilateral testis, a phenomenon that is referred to as the cremaster reflex.|HPO|N|
C2139046|A lump in the region of the larynx. A mass is any lump in the body that can be caused by the abnormal growth of cells, a cyst, hormonal changes or an immune reaction. Typically a mass is an initial finding that will lead to additional workup. Laryngeal masses can be visualized by multiple methods include computed tomography.|HPO|N|
C2139237|Abnormally lax lower eyelid associated with tissue relaxation.|HPO|N|
C2139265|Abnormally lax upper eyelid associated with tissue relaxation.|HPO|N|
C2142761|A dysentery that involves protozoan infection.|MONDO|N|
C2143306|While performing an assessment of the eyes, the examiner notes whether the pupils are equal and round, reactive to light, and have the ability to accommodate. If all findings are normal, the abbreviation PERRLA is noted in the examiner''s account of the physical examination.|NCI|N|
C2145472|A carcinoma arising from the urothelial lining of the urinary tract (bladder, renal pelvis, ureter, or urethra).|NCI|N|
C2145651|A measurement of the skull diameter, measured from the external occipital protuberance to the most prominent point of the frontal bone in the midline.|NCI|N|
C2146481|A loss of the ability to move the vocal fold on both sides.|HPO|N|
C2153623|A type of skin nodule (a lesions that is greater than either 10mm in both width and depth, and most frequently centered in the dermis or subcutaneous fat) with a yellowish coloration (that reflects a high lipid content of the lesion).|HPO|N|
C2163355|The daily caloric intake is deficient.|NCI|N|
C2168280|A rare leiomyosarcoma that arises from the appendiceal wall.|NCI|N|
C2168282|A leiomyosarcoma that arises from the bladder. It is the most common type of bladder sarcoma in adults.|NCI|N|
C2168304|An aggressive malignant smooth muscle neoplasm, arising from the vulva. It is characterized by a proliferation of neoplastic spindle cells.|NCI|N|
C2168307|Body length at the age of record expressed as a percentile of other children''s body length measures.|SNOMEDCT_US|N|
C2169794|Increased susceptibility to streptococcus pneumoniae infections as manifested by a history of recurrent infections by streptococcus pneumoniae.|HPO|N|
C2169795|An increased susceptibility to bronchopulmonary infections as manifested by a history of recurrent bronchopulmonary infections.|HPO|N|
C2169806|Repeated, individually recognizable, intermittent movements or movement fragments that are almost always briefly suppressible and are usually associated with awareness of an urge to perform the movement.|HPO|N|
C2174395|ISSVA Classification of Vascular Anomalies ©2018 International Society for the Study of Vascular Anomalies Available at ""issva.org/classification"" Accessed May 24, 2022.|SNOMEDCT_US|N|
C2174396|ISSVA Classification of Vascular Anomalies ©2018 International Society for the Study of Vascular Anomalies Available at ""issva.org/classification"" Accessed May 13, 2022.|SNOMEDCT_US|N|
C2176208|Decreased retinal arteriolar diameters, which may decrease blood flow and slow oxygen delivery to regions of the retina.|HPO|N|
C2183966|An abnormality of the lip.|HPO|N|
C2184082|A rare liposarcoma that arises from the vulva.|NCI|N|
C2184126|A rare diffuse large B-cell lymphoma that arises from the liver and the bulk of the tumor is located in the liver.|NCI|N|
C2186266|A close blood relative had heart disease.|HPO|N|
C2187053|Bleeding occurring within the macula lutea of the retina.|HPO|N|
C2187340|An elevation of the eyelid above the normal level in the primary position.|HPO|N|
C2187547|An aggressive malignant smooth muscle neoplasm, arising from the retroperitoneum. It is characterized by a proliferation of neoplastic spindle cells.|NCI|N|
C2188058|A rare, aggressive, malignant, epithelial carcinoma of the esophagus characterized, macroscopically, by an exophytic mass with central ulceration located on the esophagus and, histologically, by a sheet-like growth of neoplastic cells without significant glandular, squamous or neuroendocrine differentiation. Patients may present with progressive dysphagia, long-standing history of gastroesophageal reflux, weight loss, anemia, abdominal or chest pain/pressure, dyspnea, and/or hematemesis. Presence or history of Barrett esophagus is frequently associated.|ORDO|N|
C2188069|An undifferentiated carcinoma that arises from the larynx. This category includes lymphoepithelial carcinoma and giant cell carcinoma.|NCI|N|
C2188139|An aggressive high grade sarcoma that arises from the ovary. It is characterized by the presence of marked pleomorphism and nuclear atypia in the neoplastic mesenchymal cells. The prognosis is poor.|NCI|N|
C2188153|A term that refers to a heterogeneous group of uncommon soft tissue sarcomas that do not show an identifiable line of differentiation using currently available technologies. This is a diagnosis of exclusion and includes undifferentiated pleomorphic sarcoma (also known as malignant fibrous histiocytoma), undifferentiated spindle cell sarcoma, undifferentiated round cell sarcoma, and undifferentiated epithelioid sarcoma.|NCI|N|
C2197691|Hypospadias with location of the urethral meatus in the scrotum.|HPO|N|
C2199604|Bleeding that is disproportionate to the offending trauma.|NCI|N|
C2200125|A bronchiolo-alveolar adenocarcinoma that is characterized by a tumor cells containing abundant mucin in their cytoplasm and composed of tall columnar cells growing along alveolar walls without stromal invasion.|MONDO|N|
C2200127|A high grade malignant neoplasm that arises from the lung and is characterized by the presence of malignant neuroendocrine cells. This category includes small cell lung carcinoma, large cell lung neuroendocrine carcinoma, and combined lung carcinoma.|NCI|N|
C2200130|A rare anaplastic large cell lymphoma that arises in the lung parenchyma.|NCI|N|
C2200133|An exceedingly rare follicular lymphoma that arises in and is confined to the lung at the time of diagnosis.|NCI|N|
C2200138|A diffuse large B-cell lymphoma that is localized to the lungs at the time of presentation. Signs and symptoms include cough, dyspnea, and hemoptysis.|NCI|N|
C2200348|An extremely rare rhabdomyosarcoma arising from the kidney. Most cases are of embryonal type.|NCI|N|
C2200351|A rare rhabdomyosarcoma that arises from the lung.|NCI|N|
C2202741|An apocrine adenocarcinoma that arises from the sweat glands in the vulva.|NCI|N|
C2202743|An eccrine adenocarcinoma that arises from the sweat glands in the vulva.|NCI|N|
C2203937|Little or no appetite for breakfast due to eating more food after dinner than during the meal and eating more than half of daily food intake after dinner hour.|MSH|N|
C2204343|A non-Hodgkin lymphoma that manifests initially in a salivary gland. It usually occurs in the parotid gland. Mucosa-associated lymphoid tissue lymphoma is the most common primary salivary gland non-Hodgkin lymphoma.|NCI|N|
C2204355|A diffuse large B-cell lymphoma that manifests initially in a salivary gland. It usually occurs in the parotid gland.|NCI|N|
C2204358|A follicular lymphoma that manifests initially in a salivary gland. It usually occurs in the parotid gland.|NCI|N|
C2204420|A rare adenosquamous carcinoma that arises from the tongue.|NCI|N|
C2204430|A sarcoma that arises from the tongue.|NCI|N|
C2204527|An aggressive variant of squamous cell carcinoma that arises from the floor of the mouth. It is characterized by the presence of small malignant cells with hyperchromatic nuclei and scant amount of cytoplasm forming lobules with peripheral palisading.|NCI|N|
C2205024|An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the appendix. The mitotic count is more than 20 per 10 HPF. According to the size of the malignant cells, the prominence of the nucleoli, and the amount of cytoplasm, it is classified either as small or large cell neuroendocrine carcinoma.|NCI|N|
C2205189|An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the anal canal. The mitotic count is more than 20 per 10 HPF. According to the size of the malignant cells, the prominence of the nucleoli, and the amount of cytoplasm, it is classified either as small or large cell neuroendocrine carcinoma.|NCI|N|
C2205345|Embryonal sarcoma of the liver is a rare primary malignant hepatic neoplasm of childhood of mesenchymal origin. It can rarely occur in adults. It is characterized by abdominal mass, right upper quadrant or epigastric pain, nausea, anorexia, intermittent fever or headache.|ORDO|N|
C2205442|A malignant soft tissue neoplasm that arises from the extrahepatic bile ducts. Representative examples include Kaposi sarcoma, leiomyosarcoma, and rhabdomyosarcoma.|NCI|N|
C2205506|A rare neuroendocrine neoplasm of pancreas characterized by a high-grade malignant epithelial tumor with neuroendocrine differentiation. Based on histopathologic appearance, a small cell (composed of diffuse sheets of cells) and a large cell type (showing a nesting/trabecular pattern) are distinguished. Synaptophysin and chromogranin are positive on immunohistochemistry. The Ki-67 proliferation index is typically very high (&gt;60 - 80%). Patients present with back pain, jaundice, and/or non-specific abdominal symptoms. Serum hormone activity is unusual. The tumor is highly aggressive with poor prognosis.|ORPHANET|N|
C2205582|A non-Hodgkin lymphoma that arises from the nasal cavity and is characterized by the presence of a diffuse malignant infiltrate composed of large B-lymphocytes.|NCI|N|
C2206518|EEG with sharp waves in the frontal region, i.e., sharp transient waves of a duration between 80 and 200 msec.|HPO|N|
C2206519|EEG with sharp waves in the temporal region, i.e., sharp transient waves of a duration between 80 and 200 msec.|HPO|N|
C2206520|EEG with sharp waves in the parietal region, i.e., sharp transient waves of a duration between 80 and 200 msec.|HPO|N|
C2206521|EEG with sharp waves in the occipital region, i.e., sharp transient waves of a duration between 80 and 200 msec.|HPO|N|
C2206531|EEG with generalized sharp transient waves of a duration less than 80 msec.|HPO|N|
C2207327|EEG with sharp waves in the central region, i.e., sharp transient waves of a duration between 80 and 200 msec.|HPO|N|
C2208973|Sperm with cigar-shaped heads that gradually dimish in diameter (taper).|HPO|N|
C2210965|Thymic neuroendocrine carcinoma is a type of thymic epithelial neoplasm displaying evidence of neuroendocrine differentiation. The exact prevalence or incidence is unknown. Men are predominantly affected. Thymic neuroendocrine carcinoma is aggressive with a poor prognosis.|SNOMEDCT_US|N|
C2211016|A rare follicular dendritic cell sarcoma that affects the structures of the mediastinum.|NCI|N|
C2211454|A rare pleomorphic liposarcoma arising from the skin.|NCI|N|
C2211613|A neuroblastoma that involves the retroperitoneal space.|MONDO|N|
C2211707|An invasive breast carcinoma characterized by the presence of focal neuroendocrine differentiation.|NCI|N|
C2211850|A squamous cell carcinoma that arises from the vulva and is characterized by the presence of nests of malignant basaloid cells with a scant amount of cytoplasm.|NCI|N|
C2212006|Small cell carcinoma of the ovary is a rare, highly aggressive, poorly differentiated ovarian neoplasm, often associated with paraneoplastic hypercalcemia. It is usually diagnosed in childhood or young adulthood at an advanced stage and presents with abdominal or pelvic mass or, rarely, symptoms related to hypercalcemia. Occasional familial cases have been reported.|ORDO|N|
C2212011|A steroid tumor of the ovary which has an aggressive clinical course and metastasizes to other anatomic sites. It is usually of large size and is characterized by nuclear atypia, increased mitotic activity, hemorrhage, and necrosis. Sometimes, patients have abdominal metastases at presentation.|NCI|N|
C2212013|A malignant neoplasm of the ovary with an invasive epithelial component and a fibrotic stroma. The epithelial component is characterized by the presence of malignant epithelial cells of serous type, forming glandular, papillary, and solid patterns.|NCI|N|
C2212014|A malignant neoplasm of the ovary with an invasive epithelial component and a fibrotic stroma. The epithelial component is characterized by the presence of malignant epithelial cells with intracytoplasmic mucin. Cystic spaces are also present which contain mucoid material.|NCI|N|
C2212017|An endometrioid adenocarcinoma that arises from the ovary and exhibits squamous differentiation. The squamous cell component often has a cytologically benign appearance.|NCI|N|
C2212024|A benign neoplasm of the ovary characterized by the presence of glandular structures with endometrial-type well-differentiated cells in a fibrotic stroma.|NCI|N|
C2212153|An extremely rare penile epithelial neoplasm, histologically composed of nests of epithelial cells floating in lakes of extracellular, PAS-positive mucin, with clinical characteristics of a nonhealing ulcer or soft mass in the preputium or glans area, with itching and burning often preceding appearance of the lesion. Lymphadenopathy may indicate dissemination. Mucinous metaplasia of the penis may be a risk factor.|SNOMEDCT_US|N|
C2212300|A rare alveolar rhabdomyosarcoma arising from the prostate gland.|NCI|N|
C2212425|A very rare small cell neuroendocrine carcinoma that arises from the kidney.|NCI|N|
C2212463|A rare Burkitt lymphoma arising from the kidney.|NCI|N|
C2212604|An alveolar rhabdomyosarcoma arising from the bladder. It is the most common type of rhabdomyosarcoma of the bladder affecting older children and adolescents.|NCI|N|
C2212625|An embryonal rhabdomyosarcoma arising from the bladder. It is the most common type of rhabdomyosarcoma of the bladder affecting young children.|NCI|N|
C2212884|A non-Hodgkin lymphoma that arises from the lacrimal gland. The majority of cases are of B-cell type. The most common subtypes are mucosa-associated lymphoid tissue lymphoma, follicular lymphoma, and diffuse large B-cell lymphoma.|NCI|N|
C2213017|Involvement of the meninges by Hodgkin or non-Hodgkin lymphoma.|NCI|N|
C2213246|A non-Hodgkin lymphoma that arises from the central nervous system.|NCI|N|
C2213266|A rare follicular dendritic cell sarcoma involving the thyroid gland. It may be associated with chronic lymphocytic thyroiditis.|NCI|N|
C2215315|A rare carcinoma with pure glandular differentiation arising anywhere in the urinary tract. This group does not include clear cell and endometrioid adenocarcinomas.|NCI|N|
C2215935|An electrocardiographic finding of complete failure of atrial electrical impulse conduction to the ventricles. This is manifested on the ECG by disassociation of atrial and ventricular rhythms. The atrial rate must be faster than the ventricular rate. (CDISC)|NCI|N|
C2215972|An electrocardiographic finding of a wide QRS complex with evidence of delayed conduction to the right ventricle, manifested by a widened initial portion of the QRS in V1 and V2, a widened S wave in V5, V6, I and aVL, and with QRS duration less than 120 ms. (CDISC)|NCI|N|
C2215995|An electrocardiographic finding of a slightly widened QRS duration (typically less than 120 ms) with leftward frontal plane QRS axis and typically small Q waves in leads I and aVL. (CDISC)|NCI|N|
C2216002|An electrocardiographic finding of an S1Q3 pattern and QRS axis greater than or equal to 120 degrees. It is usually seen in association with other abnormalities (e.g. RBBB or RVH). (CDISC)|NCI|N|
C2216370|Pallor of the perifoveal macula of the retina with appearance of a small circular reddish choroid shape as seen through the fovea centralis due to relative transparancy of the macula.|HPO|N|
C2216695|Stage I includes: IA: T1, N0, M0 and IB: (T0, N1mi, M0); (T1, N1mi, M0). T1: Tumor 20 mm or less in greatest dimension. T1 includes T1mi. T1mi: Tumor 1 mm or less in greatest dimension. T0: No evidence of primary tumor. N0: No regional lymph node metastasis. N1mi: Nodal micrometastases. M0: No clinical or radiographic evidence of distant metastasis. M0 includes M0(i+). (AJCC 7th Ed.)|NCI|N|
C2216700|Stage IIIC Breast Cancer was added in the 6th Edition AJCC Staging Manual, on the basis of metastasis to the infraclavicular lymph nodes (N3) plus any T, M0.|NCI|N|
C2217035|Stage IIA includes: T3, N0, M0. T3: Tumor invades through the muscularis propria into pericolorectal tissues. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C2217036|Stage IIB includes: T4a, N0, M0. T4a: Tumor penetrates to the surface of the visceral peritoneum. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C2217037|Stage IIIA includes: (T1-T2, N1/N1c, M0); (T1, N2a, M0). T1: Tumor invades submucosa. T2: Tumor invades muscularis propria. N1: Metastasis in 1-3 regional lymph nodes. N1c: Tumor deposit(s) in the subserosa, mesentery, or nonperitonealized pericolic or perirectal tissues without regional lymph node metastasis. N2a: Metastasis in 4-6 regional lymph nodes. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C2217038|Stage IIIB includes: (T3-T4a, N1/N1c, M0); (T2-T3, N2a, M0); (T1-T2, N2b, M0). T1: Tumor invades submucosa. T2: Tumor invades muscularis propria. T3: Tumor invades through the muscularis propria into pericolorectal tissues. T4a: Tumor penetrates to the surface of the visceral peritoneum. N1: Metastasis in 1-3 regional lymph nodes. N1c: Tumor deposit(s) in the subserosa, mesentery, or nonperitonealized pericolic or perirectal tissues without regional lymph node metastasis. N2a: Metastasis in 4-6 regional lymph nodes. N2b: Metastasis in seven or more regional lymph nodes. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C2217039|Stage IIIC includes: (T4a, N2a, M0); (T3-T4a, N2b, M0); (T4b, N1-N2, M0). T3: Tumor invades through the muscularis propria into pericolorectal tissues. T4a: Tumor penetrates to the surface of the visceral peritoneum. T4b: Tumor directly invades or is adherent to other organs or structures. N1: Metastasis in 1-3 regional lymph nodes. N2: Metastasis in four or more regional lymph nodes. N2a: Metastasis in 4-6 regional lymph nodes. N2b: Metastasis in seven or more regional lymph nodes. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C2217809|Stage IVA includes: (T1/T2, N3, M0); (T3, Any N, M0). T1: Invasive vulvar cancer confined to the vulva or perineum. T2: Vulvar cancer with tumor of any size with extension to adjacent perineal structures (lower/distal 1/3 urethra, lower/distal 1/3 vagina, anal involvement). T3: Vulvar cancer with tumor of any size with extension to any of the following: upper/proximal 2/3 urethra, upper/proximal 2/3 vagina, bladder mucosa, rectal mucosa, or fixed to pelvic bone. N3: Vulvar cancer with fixed or ulcerated regional lymph node metastasis. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C2219389|An auscultated finding describing the heart sound that occurs with ventricular systole and is produced mainly by closure of the atrioventricular valves, signifying the first heart sound. (ACC-AHA)|NCI|N|
C2219390|An auscultated finding describing the heart sound that signifies the beginning of diastole and is caused by closure of the semilunar valves, signifying the second heart sound. (ACC-AHA)|NCI|N|
C2219850|Snoring at a particularly loud or abnormally high volume.|HPO|N|
C2219980|Fever that occurs at daily intervals.|HPO|N|
C2220010|Behavior that is not in line with social norms.|HPO|N|
C2220266|Information about current and past exposure to metals, dust, fibers, fumes, chemicals, biologic hazards, radiation, noise, and/or vibration at work or home.|HPO|N|
C2220318|Environmental, occupational or consumer-based exposure to airborne gases and particulates produced when materials undergo combustion or thermal decomposition.|NCI|N|
C2220340|Environmental or occupational exposure to dust derived during the processing of coal.|NCI|N|
C2220444|Occupational exposure to gases and particulates produced when coal is processed in a coke oven.|NCI|N|
C2220447|Environmental or occupational exposure to granular solids generated when timber is processed, such as when it is chipped, sawed, turned, drilled or sanded.|NCI|N|
C2226608|A nodule shape that is a two dimensional with 3 or more straight sides that do not cross and is a closed shape. Examples of polygons would include triangles, squares, rectangles, hexagons, and octagons. Polygonal nodules are commonly delimited by interlobular septal margins and are a feature of intrapulmonary lymph nodes or possibly bronchiolar/arteriolar disease.|NCI|N|
C2227090|Abnormally increased dimension of the maxilla, especially relative to the mandible, resulting in a malocclusion or malalignment between the upper and lower teeth or in anterior positioning of the nasal base, increased convexity of the face, increased nasolabial angle, or increased width (transverse dimension of the maxilla.|HPO|N|
C2228039|Reduced strength of the muscles that lift or otherwise move the foot at the ankle.|HPO|N|
C2228040|A ring-shaped skin finding with clear central area.|NCI|N|
C2228270|A macule (flat, distinct, discolored area of skin less than 1 cm wide that does not involve any change in the thickness or texture of the skin) with a red or reddish color often associated with inflammation or irritation.|HPO|N|
C2230363|A swelling or enlargment localized to the Fallopian tube. The word mass is usually used at an early stage of the diagnostic workup before the precise nature of the swelling has been determined.|HPO|N|
C2230441|A lack of strength in the triceps muscle, which normally is responsible for extending (straightening) the elbow and mediating certain shoulder movements.|HPO|N|
C2231324|Human BRUCELLA infection with pulmonary involvement such as EMPYEMA; LUNG ABSCESS; and PLEURAL EFFUSION.|MSH|N|
C2234332|The numerical sum between zero and ten that is computed from individual values of zero to two that are assigned to five different areas of interest in newborn screenings at fifteen minutes after birth. These areas are breathing, muscle tone, pulse rate, reflex irritability and skin color.|NCI|N|
C2234333|The numerical sum between zero and ten that is computed from individual values of zero to two that are assigned to five different areas of interest in newborn screenings at twenty minutes after birth. These areas are breathing, muscle tone, pulse rate, reflex irritability and skin color.|NCI|N|
C2234408|Abnormally lax eyelid associated with tissue relaxation; it can be demonstrated by the eyelid distraction test and/or the eyelid snap test.|HPO|N|
C2237142|A moderate delay in the achievement of motor or mental milestones in the domains of development of a child.|HPO|N|
C2237347|An irreversible distortion of the morphology of an erythrocyte such that the cells are elongated and curved, resembling the blade of a sickle (the hand-held agricultural tool traditionally used to harvest grains).|HPO|N|
C2237660|A form of RETINAL degeneration in which abnormal CHOROIDAL NEOVASCULARIZATION occurs under the RETINA and MACULA LUTEA, causing bleeding and leaking of fluid. This leads to bulging and or lifting of the macula and the distortion or destruction of central vision.|MONDO|N|
C2239127|A description of an individual''s current and past use and/or abuse of drugs and chemicals. This includes prescription medication, illicit drugs and recreational substances.|NCI|N|
C2239176|Hepatocellular carcinoma is the major histologic type of malignant primary liver neoplasm. It is the fifth most common cancer and the third most common cause of death from cancer worldwide. The major risk factors for HCC are chronic hepatitis B virus (HBV) infection, chronic hepatitis C virus (HCV) infection, prolonged dietary aflatoxin exposure, alcoholic cirrhosis, and cirrhosis due to other causes. Hepatoblastomas comprise 1 to 2% of all malignant neoplasms of childhood, most often occurring in children under 3 years of age. Hepatoblastomas  are thought to be derived from undifferentiated hepatocytes (Taniguchi et al., 2002).|OMIM|N|
C2239246|A rare, high grade sarcoma that arises from the endometrial stroma or myometrium without a specific type of differentiation. It was previously also known as high grade endometrial stromal sarcoma. In 2014, high grade endometrial stromal sarcoma was reclassified and is currently considered a distinct and rare neoplasm. Undifferentiated uterine sarcoma has a worse prognosis.|NCI|N|
C2239253|A rare congenital heart malformation of one or more of the aortic sinuses, consisting of a dilation that when unruptured is usually asymptomatic but when ruptured presents with progressive exertional dyspnea, fatigue, chest pain and that can lead to congestive heart failure if left untreated.|ORDO|N|
C2239351|Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MSRB3 gene.|MONDO|N|
C2240374|Abnormal high level of eosinophils in the blood.|NCI|N|
C2242472|An acute or chronic infectious process affecting the bones.|NCI|N|
C2242524|An anatomical variant of the cervical atlas in which osseous bridges connect posterior superior articular process to the posterior arch thereby covering grooves for the VERTEBRAL ARTERY.|MSH|N|
C2242528|A type of gastroesophageal reflux disease with acid reflux-related symptoms, but that does not affect the integrity of the ESOPHAGEAL MUCOSA.|MSH|N|
C2242534|A very rare condition characterized by glomerular accumulation of microtubules in the mesangium and the glomerular basement membrane, that mainly presents with proteinuria, micro-hematuria, nephrotic syndrome, renal insufficiency and hematologic malignancy. Etiopathology is unknown. It may arise spontaneously or be associated with lymphoproliferative disorders, hepatitis C virus infection, leukocytoclastic vasculitis and hypocomplementemia.|SNOMEDCT_US|N|
C2242552|Perception of an odor in the absence of any stimuli in the surrounding environment that could emit the odor.|HPO|N|
C2242558|Deposition of calcium in normally non calcified tissue|SNOMEDCT_US|N|
C2242560|Infections by the same infectious agent occurring during exposure to vaccine. Causes of vaccine breakthrough infections are related to VACCINE EFFECTIVENESS and pathogen mutation (ANTIGENIC DRIFT).|MSH|N|
C2242577|A kind of focal dystonia characterized by forceful contractions of the face, jaw, and/or tongue causing difficulty in opening and closing the mouth and often affecting chewing and speech.|HPO|N|
C2242579|Involuntary protrusions, movements, spams and contortions of the tongue.|HPO|N|
C2242657|Ocular melanoma that has spread from its original site of growth to another anatomic site.|NCI|N|
C2242696|A condition in which a person is unable to tell which side of the body has been touched.|MSH|N|
C2242703|A disorder of the heart and kidneys in which dysfunction of one of the organs induces dysfunction of the other organ.|NCI|N|
C2242708|Abnormally high levels of alanine transaminase (ALT) and/or aspartate transaminase (AST) in the blood.|NCI|N|
C2242710|Pathological elevation of intra-abdominal pressure (>12 mm Hg). It may develop as a result of SEPSIS; PANCREATITIS; capillary leaks, burns, or surgery. When the pressure is higher than 20 mm Hg, often with end-organ dysfunction, it is referred to as abdominal compartment syndrome.|MSH|N|
C2242711|An anterior ischemic neuropathy that is the cause of vision loss that occurs in temporal arteritis (aka giant cell arteritis)|MONDO|N|
C2242785|Gaisbock syndrome is characterised by secondary polycythemia.|ORDO|N|
C2242796|Hemolytic anemia, in which patients are heterozygous for both the sickle cell gene and a thalassemia gene.|NCI|N|
C2242813|A ranula is a mucocele that occurs in the floor of the mouth and usually involve the major salivary glands. Specifically, the ranula originates in the body of the sublingual gland, in the ducts of the sublingual gland, in the Wharton's duct of the submandibular gland or infrequently from the minor salivary glands at this location.|HPO|N|
C2242987|A neoplasm that arises from mast cells and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C2242996|A sensation as of repetitive pin pricks, caused by cold or by striking a nerve, or as a result of various diseases of the central or peripheral nervous system.|NCI|N|
C2243051|Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium.|HPO|N|
C2243086|A rare adenocarcinoma of the major and minor salivary glands, originating from basaloid, myoepithelial and ductal cells. While morphologically resembling basal cell carcinomas, it is a distinct entity. The tumor is not encapsulated, may invade locally, and less frequently may metastasize. It usually occurs in older patients.|NCI|N|
C2243088|Gastritis that is characterized by erosion of the mucosal surface.|NCI|N|
C2244328|Transport of substances across a biological membrane from an area of higher concentration to an area of lower concentration by means of a carrier molecule.|NCI|N|
C2246469|The chemical reactions and pathways resulting in the formation of isoquinoline alkaloids, alkaloid compounds that contain bicyclic N-containing aromatic rings and are derived from a 3,4-dihydroxytyramine (dopamine) precursor that undergoes a Schiff base addition with aldehydes of different origin. [GOC:mah, http://www.life.uiuc.edu/ib/425/lecture32.html]|GO|N|
C2262808|The series of molecular signals initiated by binding of a Wnt protein to a frizzled family receptor on the surface of the target cell, followed by propagation of the signal via beta-catenin, and ending with a change in transcription of target genes. In this pathway, the activated receptor signals via downstream effectors that result in the inhibition of beta-catenin phosphorylation, thereby preventing degradation of beta-catenin. Stabilized beta-catenin can then accumulate and travel to the nucleus to trigger changes in transcription of target genes. [GOC:bf, GOC:dph, PMID:11532397, PMID:19619488]|GO|N|
C2265792|Abnormal increase in muscle size and mass not due to training.|HPO|N|
C2266662|The numerical value that represents a clinical assessment of neurological and physical criteria, performed between birth and five days of age, to determine an infant''s gestational age and maturity.|NCI|N|
C2266788|Nontender, round and firm, but slightly compressible, intradermal or subcutaneous cyst measuring 0.5-5 cm in diameter. Trichilemmal cysts are acquired rather than congenital, and tend to appear on the scalp rather than the face, and to be intradermal rather than subcutaneous.|HPO|N|
C2267227|A disorder characterized by recurrent episodes of binge-eating over which the individual feels a lack of control; these episodes of binge-eating are followed by recurrent compensatory behavior to prevent weight gain, usually self-induced vomiting. In addition, self-evaluation is unduly influenced by body image.|NCI|N|
C2267231|A rare hematologic disorder characterized by neutropenia lasting more than three months with no identifiable cause.|NCI|N|
C2267233|Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period.|HPO|N|
C2314882|Infections of the genital tract in females or males. They can be caused by endogenous, iatrogenic, or sexually transmitted organisms.|MSH|N|
C2314896|Familial atypical multiple mole melanoma (FAMMM) syndrome is an inherited genodermatosis characterized by the presence of multiple melanocytic nevi (often >50) and a family history of melanoma as well as, in a subset of patients, an increased risk of developing pancreatic cancer (see this term) and other malignancies.|ORDO|N|
C2314897|Intraepidermal squamous cell carcinoma, confined to the epidermis. There is no evidence of invasion.|NCI|N|
C2314994|Ischemic necrosis of the spinal cord caused by occlusion of the arteries that supply blood to the spinal cord. Signs and symptoms include intermittent back pain, pain in the legs, paralysis, and incontinence.|NCI|N|
C2315100|Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.|HPO|N|
C2315229|An abnormality of one or more of the set of bones that make up the facial skeleton.|HPO|N|
C2315245|An abnormal breathing pattern originating from lower brainstem neurons and characterized by labored breaths, gasping, and, often, myoclonus and grunting.|NCI|N|
C2315246|A rare variant of Guillain-Barré syndrome characterized by acute post-ganglionic sympathetic and parasympathetic failure presenting several weeks after acute infection with gastrointestinal symptoms (abdominal pain, vomiting, constipation, diarrhea, gastroparesis, ileus), orthostatic hypotension, erectile dysfunction, urinary frequency, urgency or retention, vasomotor instability with acrocyanosis and reduced salivation, lacrimation and sweating.|ORDO|N|
C2315425|A local or systemic infection associated with the use of a peritoneal dialysis catheter.|NCI|N|
C2315541|Cystic, urine-containing intrarenal cavities lined with transitional cell epithelium that communicate through a narrow channel with the collecting system.|HPO|N|
C2315717|Invagination of the superior part of the auricle under a fold of temporal skin.|HPO|N|
C2315777|The superficial corneal dystrophies refer to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal epithelium and its basement membrane and the superficial corneal stroma, and variable effects on vision depending on the type of dystrophy.|ORDO|N|
C2315811|A history of a first-degree relative that has had syncope.|NCI|N|
C2315964|Energy intake that is less than energy expenditure, established reference standards, or recommendations based on physiological needs.|SNOMEDCT_US|N|
C2316160|The presence of live pathogens in the blood causing significant clinical consequences such as fever, chills, or hypotension.|SNOMEDCT_US|N|
C2316166|An intermittent and self-limiting headache disorder in individuals with CEREBROSPINAL FLUID SHUNTS emplaced for the treatment of HYDROCEPHALUS. The symptoms of headache, vomiting, and cranial neuropathies are associated with intermittent obstruction of the shunt.|MSH|N|
C2316212|Cryopyrin associated periodic syndrome (CAPS) defines a group of autoinflammatory diseases, characterized by recurrent episodes of systemic inflammatory attacks in the absence of infection or autoimmune disease. CAPS comprises 3 disorders on a continuum of severity: severe CINCA syndrome, intermediate Muckle-Wells syndrome (MWS) and milder familial cold urticaria (FCAS) (see these terms).|ORDO|N|
C2316319|A disease or disorder that involves the vertebra.|MONDO|N|
C2316401|A type of chronic kidney disease with normal or increased glomerular filtration rate (GFR at least 90 mL/min/1.73 m2).|HPO|N|
C2316786|A type of chronic kidney disease with mildly reduced glomerular filtration rate (GFR 60-89 mL/min/1.73 m2).|HPO|N|
C2316787|A type of chronic kidney disease with moderately reduced glomerular filtration rate (GFR 30-59 mL/min/1.73 m2).|HPO|N|
C2316810|A degree of kidney failure severe enough to require dialysis or kidney transplantation for survival characterized by a severe reduction in glomerular filtration rate (less than 15 ml/min/1.73 m2) and other manifestations including increased serum creatinine.|HPO|N|
C2316827|Excessive blood loss within the second trimester but prior to onset of labor.|NCI|N|
C2317073|Mild pyelectasis is defined as a hypoechoic spherical or elliptical space within the renal pelvis that measures at least 5mm and not more than 10 mm. The measurement is taken on a transverse section through the fetal renal pelvis using the maximum anterior-to-posterior measurement.|HPO|N|
C2317321|Energy intake that exceeds energy expenditure, established reference standards, or recommendations based on physiological needs.|SNOMEDCT_US|N|
C2317473|A type of chronic kidney disease with severely reduced glomerular filtration rate (GFR 15-29 mL/min/1.73 m2).|HPO|N|
C2317524|History of a first-degree relative (less than 55 years for male relatives or less than 65 years for female relatives) having had any of the following: coronary artery disease, myocardial infarction, coronary artery bypass graft surgery, percutaneous coronary intervention, or sudden cardiac death without obvious cause.|NCI|N|
C2317548|The presence of an infectious agent in the blood circulation.|HPO|N|
C2317797|A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the vulva.|HPO|N|
C2318663|The location of the radiating chest pain is in the back.|NCI|N|
C2318664|The location of the radiating chest pain is in the left arm.|NCI|N|
C2321230|The movement of MILITARY PERSONNEL and support structures to designated areas for the purpose of performing of military duties in support of a mission.|MSH|N|
C2346456|Plasma cell myeloma with beta-2-microglobulin greater than or equal to 5.5 (median survival of 29 months). Note that the older Durie/Salmon staging system defines stage III quite differently. (PDQ)|NCI|N|
C2346457|Plasma cell myeloma with blood levels of beta-2-microglobulin between 3.5 and 5.5 mg/L.|NCI|N|
C2346458|Plasma cell myeloma with beta-2-microglobulin less than 3.5 and albumin greater than or equal to 3.5 (median survival of 62 months). Note that the older Durie/Salmon staging system defines stage I quite differently. (PDQ)|NCI|N|
C2346462|An electrocardiographic finding of blocked cardiac electrical impulse conduction along the fibers of the right bundle branch that cannot be attributed to any cause.|NCI|N|
C2346480|Problem associated with facility not providing satisfactory initial and/or periodic user training covering operation of a medical device.|NCI|N|
C2346510|An electrocardiographic finding of a delay in impulse propagation through the atria. This is characterized by broad P waves which are often biphasic in V1. (CDISC)|NCI|N|
C2346542|An electrocardiographic finding of a supraventricular rhythm where the ratio of impulses generated above the atrioventricular node to the number of impulses conducted through to the ventricles is 2:1. This is manifested on the ECG as 2 P waves per QRS complex. (CDISC)|NCI|N|
C2346597|An electrocardiographic finding of a significant elevation above the baseline of the J point. (CDISC)|NCI|N|
C2346634|Problem associated with user facility not receiving adequate service documentation, guidelines, or recommendations to perform preventative and corrective maintenance and performance assurance checks.|NCI|N|
C2346639|Unresponsive.|NCI|N|
C2346640|No play; does not get out of bed.|NCI|N|
C2346642|Often sleeping; play entirely limited to very passive activities.|NCI|N|
C2346643|In bed; needs assistance even for quiet play.|NCI|N|
C2346644|Mostly in bed; participates in quiet activities.|NCI|N|
C2346645|Gets dressed, but lies around much of the day; no active play, able to participate in all quiet play and activities.|NCI|N|
C2346646|Up and around, but minimal active play; keeps busy with quieter activities.|NCI|N|
C2346647|Both greater restriction of and less time spent in play activity.|NCI|N|
C2346649|Minor restrictions in physically strenuous activity.|NCI|N|
C2346721|Defines the status of an entire study or a study at a particular study site in relation to the subject accrual at a particular time.|NCI|N|
C2346757|A pathologic finding about one or more characteristics of anal cancer, following the rules of the TNM AJCC v6 classification system as they pertain to distant metastases.|NCI|N|
C2346758|A pathologic finding about one or more characteristics of anal cancer, following the rules of the TNM AJCC v6 classification system as they pertain to staging of the primary tumor.|NCI|N|
C2346759|A pathologic finding about one or more characteristics of anal cancer, following the rules of the TNM AJCC v6 classification system as they pertain to staging of regional lymph nodes.|NCI|N|
C2346760|A pathologic finding about one or more characteristics of anal cancer, following the rules of the TNM AJCC v6 classification system.|NCI|N|
C2346761|A finding about one or more characteristics of anal cancer, following the rules of the TNM AJCC v6 classification system.|NCI|N|
C2346762|Anal cancer with no evidence of distant metastasis. (from AJCC 6th Ed.)|NCI|N|
C2346763|Anal cancer with distant metastasis. (from AJCC 6th and 7th Eds.)|NCI|N|
C2346764|Anal cancer in which distant metastasis cannot be assessed. (from AJCC 6th Ed.)|NCI|N|
C2346765|Anal cancer with no evidence of metastasis to regional lymph nodes. (from AJCC 6th and 7th Eds.)|NCI|N|
C2346766|Anal cancer with metastasis in perirectal lymph node(s). (from AJCC 6th and 7th Eds.)|NCI|N|
C2346767|Anal cancer with metastasis in unilateral internal iliac and/or inguinal lymph node(s). (from AJCC 6th and 7th Eds.)|NCI|N|
C2346768|Anal cancer with metastasis in perirectal and inguinal lymph nodes and/or bilateral internal iliac and/or inguinal lymph nodes. (from AJCC 6th and 7th Eds.)|NCI|N|
C2346769|Anal cancer in which the regional lymph nodes cannot be assessed. (from AJCC 6th and 7th Eds.)|NCI|N|
C2346770|Anal cancer with no evidence of a primary tumor. (from AJCC 6th and 7th Eds.)|NCI|N|
C2346771|Anal cancer with tumor size 2 centimeters or less in greatest dimension. (from AJCC 6th and 7th Eds.)|NCI|N|
C2346772|Anal cancer with tumor size more than 2 centimeters, but 5 centimeters or less, in greatest dimension. (from AJCC 6th and 7th Eds.)|NCI|N|
C2346773|Anal cancer with tumor size more than 5 centimeters in greatest dimension. (from AJCC 6th and 7th Eds.)|NCI|N|
C2346774|Anal cancer with tumor of any size that invades adjacent organ(s); e.g. vagina, urethra, bladder. Direct invasion of the rectal wall, perirectal skin, subcutaneous tissue, or the sphincter muscle(s) is not classified as T4. (from AJCC 6th and 7th Eds.)|NCI|N|
C2346775|Anal cancer in which the primary tumor cannot be assessed. (from AJCC 6th and 7th Eds.)|NCI|N|
C2346776|Anal cancer in situ. (from AJCC 6th and 7th Eds.)|NCI|N|
C2346951|Indicates that a person has received a degree for successful completion of a program of studies that normally requires at least 4-5 years of full-time equivalent college-level work.|NCI|N|
C2346975|An indication that a heart beat was detected and accepted as conforming to the measurement standards.|NCI|N|
C2347045|A description of the boundary findings or features of a sample.|NCI|N|
C2347079|Indicates that a person has received a degree for completion of at least one year of prescribed study beyond the bachelor''s degree.|NCI|N|
C2347092|Problem associated with the energy to operate the device.|NCI|N|
C2347126|A rare inflammatory necrotising systemic vasculitis that affects predominantly small vessels (i.e. small arteries, arterioles, capillaries, venules) in multiple organs, including the kidney, the lungs, the skin and the peripheral nerves. This disease is an antineutrophil cytoplasmic autoantibodies (ANCA)-associated autoimmune disease with little or no immune complex deposition. Evidence indicates that ANCA can activate neutrophils and monocytes and cause them to attack vessel walls.|SNOMEDCT_US|N|
C2347183|A clinical finding about one or more characteristics of breast cancer, following the rules of the TNM AJCC v6 classification system as they pertain to distant metastases.|NCI|N|
C2347184|A clinical finding about one or more characteristics of breast cancer, following the rules of the TNM AJCC v6 classification system as they pertain to staging of the primary tumor.|NCI|N|
C2347185|A clinical finding about one or more characteristics of breast cancer, following the rules of the TNM AJCC v6 classification system as they pertain to staging of regional lymph nodes.|NCI|N|
C2347186|Breast cancer in which there is no evidence of distant metastasis. (from AJCC 6th Ed.)|NCI|N|
C2347187|Breast cancer with distant metastasis. (from AJCC 6th Ed.)|NCI|N|
C2347188|Breast cancer in which the status of distant metastasis cannot be assessed. (from AJCC 6th Ed.)|NCI|N|
C2347189|Breast cancer with no regional lymph node metastasis. (from AJCC 6th and 7th Eds.)|NCI|N|
C2347190|Breast cancer with metastasis to movable ipsilateral level I, II axillary lymph node(s). (from AJCC 6th and 7th Eds.)|NCI|N|
C2347191|Breast cancer with metastases in ipsilateral axillary lymph nodes fixed or matted, or in clinically apparent ipsilateral internal mammary nodes in the absence of clinically evident axillary lymph node metastasis. (from AJCC 6th Ed.)|NCI|N|
C2347192|Breast cancer with metastases in ipsilateral level I, II axillary lymph nodes fixed to one another (matted) or to other structures. (from AJCC 6th and 7th Eds.)|NCI|N|
C2347193|Breast cancer with metastasis only in clinically apparent ipsilateral internal mammary nodes and in the absence of clinically evident axillary lymph node metastasis. (from AJCC 6th Ed.)|NCI|N|
C2347194|Breast cancer with metastasis in ipsilateral infraclavicular lymph node(s) with or without axillary lymph node involvement, or in clinically apparent ipsilateral internal mammary lymph node(s) and in the presence of clinically evident axillary lymph node metastasis; or metastasis in ipsilateral supraclavicular lymph node(s) with or without axillary or internal mammary lymph node involvement. (from AJCC 6th Ed.)|NCI|N|
C2347195|Breast cancer with metastasis in ipsilateral infraclavicular lymph node(s). (from AJCC 6th and 7th Eds.)|NCI|N|
C2347196|Breast cancer with metastasis in ipsilateral internal mammary lymph node(s) and axillary lymph node(s). (from AJCC 6th and 7th Eds.)|NCI|N|
C2347197|Breast cancer with metastasis in ipsilateral supraclavicular lymph node(s). (from AJCC 6th and 7th Eds.)|NCI|N|
C2347198|Breast cancer in which regional lymph nodes cannot be assessed. (from AJCC 6th and 7th Eds.)|NCI|N|
C2347199|Breast cancer with no evidence of primary tumor. (from AJCC 6th Ed.)|NCI|N|
C2347200|Breast cancer with tumor size 2.0 cm or less in greatest dimension. (from AJCC 6th Ed.)|NCI|N|
C2347201|Breast cancer with tumor size more than 2.0 cm, but not more than 5.0 cm in greatest dimension. (from AJCC 6th Ed.)|NCI|N|
C2347202|Breast cancer with tumor size more than 5.0 cm in greatest dimension. (from AJCC 6th Ed.)|NCI|N|
C2347221|Simulations used to describe the motion of molecules in solution, generally discounting the effects of inertia.|NCI|N|
C2347231|An electrocardiographic finding of ventricular tachycardia incorporating both bundle branches into the reentry circuit.|NCI|N|
C2347248|An immunophenotypic finding indicating that expression of CD19 has been detected in a sample of neoplastic cells.|NCI|N|
C2347252|An immunophenotypic finding indicating that expression of CD23 has been detected in a sample of neoplastic cells.|NCI|N|
C2347256|An immunophenotypic finding indicating that expression of CD33 has been detected in a sample of neoplastic cells.|NCI|N|
C2347258|An indication that expression of CD43 has been detected in a sample of neoplastic cells.|NCI|N|
C2347259|An immunophenotypic finding indicating that expression of CD45 has been detected in a sample of neoplastic cells.|NCI|N|
C2347260|An indication that expression of CD52 has been detected in a sample of neoplastic cells.|NCI|N|
C2347261|An indication that expression of CD57 has been detected in a sample of neoplastic cells.|NCI|N|
C2347262|An immunophenotypic finding indicating that expression of CD5 has been detected in a sample of neoplastic cells.|NCI|N|
C2347265|An indication that expression of CD7 has been detected in a sample of neoplastic cells.|NCI|N|
C2347300|A finding of multiple myeloma in which the heavy chain of the immunoglobulin A is defective. This is the second most common type of multiple myeloma (~20%).|NCI|N|
C2347301|A finding of multiple myeloma in which the heavy chain of the immunoglobulin D is defective. This multiple myeloma subtype is very rare (~1%).|NCI|N|
C2347302|A finding of multiple myeloma in which the heavy chain of the immunoglobulin E is defective. This multiple myeloma subtype is extremely rare.|NCI|N|
C2347303|A finding of multiple myeloma in which the heavy chain of the immunoglobulin G is defective. This is the most common type of multiple myeloma (>50%).|NCI|N|
C2347304|A finding of multiple myeloma in which the heavy chain of the immunoglobulin M is defective. This finding is seen in other lymphocytic/plasmacytic disorders as well, including Waldenstrom macroglobulinemia.|NCI|N|
C2347314|A leiomyoma characterized by the presence of abundant myxoid matrix.|NCI|N|
C2347315|Criteria established for assigning high-frequency microsatellite instability (MSI-H) in cancers requiring that at least two of five markers (BAT25, BAT26, D2S123, D5S346, D17S250) score positive for MSI.|NCI|N|
C2347357|Remission with persistent lymphoid nodules in the bone marrow.|NCI|N|
C2347361|An electrocardiographic finding of changes in the ST segment and T wave that do not meet criteria for ischemia or infarction.|NCI|N|
C2347367|A bifid T-wave with a notch duration between the 2 peaks at leasy 0.04 sec and an amplitude at least 0.05 mV.|HPO|N|
C2347379|An outcome of observation represented as a text, qualitative, or quantitative parameter, code, image, graph, etc.|NCI|N|
C2347390|A tumor component characterized by the presence of a diffuse, homogeneous population of tumor cells (oligodendroglial cells) with round nuclei and clear cytoplasm. The infiltrate has a honeycomb appearance. An oligodendroglial component can be seen in central nervous system tumors including glioblastomas and mixed gliomas.|NCI|N|
C2347430|An electrocardiographic finding of tachycardia that is usually terminated by the administration of adenosine. Usually, it is a result of cAMP-mediated triggered activity and typically originates from the right ventricular outflow tract. This type of tachycardia occurs in patients with apparently normal hearts.|NCI|N|
C2347442|A morphologic appearance consisting of small, irregular regions of necrosis surrounded by dense accumulations of tumor cells; the tumor cells are more densely packed at the edge of the necrosis than in other regions of the tumor and thus appear to ""palisade"" around the necrotic zone.|NCI|N|
C2347448|Partial response of multiple myeloma or plasma cell leukemia is characterized by a 50% or greater reduction in serum M-protein, and reduction in 24-hour urinary M-protein by 90% or more or to less than 200 mg/24 hours. If the serum and urine M-protein are unmeasurable (i.e., do not meet any of the following criteria: 1. serum M-protein at least 1 g/dL; 2. urine M-protein at least 200 mg/24 hours; a 50% or more decrease in the difference between involved and uninvolved free light chain levels is required in place of the M-protein criteria (provided the serum free light chain assay shows involved level at least 10 mg/dL and the serum free light chain is abnormal). If serum and urine M-protein are unmeasurable, and serum free light assay is also unmeasurable, a 50% or more reduction in plasma cells is required in place of M-protein, provided the baseline bone marrow plasma cell percentage was 30% or more. In addition to the above listed criteria, a 50% or more reduction in the size of soft tissue plasmacytomas is also required, if present at baseline. Partial response requires two consecutive assessments made at any time before the institution of any new therapy, and no known evidence of progressive or new bone lesions if radiographic studies were performed; radiographic studies are not required to satisfy partial response requirements.|NCI|N|
C2347454|Patient identified to be at risk for an allergic reaction to contrast media.|NCI|N|
C2347495|Philadelphia chromosome abnormality; t(9;22)(q34;q11) was not found; bcr/abl gene rearrangement was not tested; therefore it is not known if present or not.|NCI|N|
C2347496|Philadelphia chromosome abnormality; t(9;22)(q34;q11) was found; bcr/abl gene rearrangement was not tested; therefore it is not known if present or not.|NCI|N|
C2347498|Philadelphia chromosome abnormality; (9;22)(q34;q11) was not tested; therefore it is not known if it was present or not; bcr/abl gene rearrangement was found.|NCI|N|
C2347499|Philadelphia chromosome abnormality; t(9;22)(q34;q11) was not tested; therefore it is not known whether it is present or not; bcr/abl gene rearrangement was not tested; therefore it is not known whether it is present or not.|NCI|N|
C2347507|A B acute lymphoblastic leukemia that occurs during childhood. It is characterized by the presence of lymphoblasts that carry a translocation between the BCR gene on chromosome 22 and the ABL1 gene on chromosome 9. It results in the production of the p190 kd or p210 kd fusion protein. It has an unfavorable clinical outcome.|NCI|N|
C2347539|An acute myeloid leukemia with recurrent genetic abnormalities occurring in adults.|NCI|N|
C2347540|An acute myeloid leukemia with t(8;21)(q22; q22.1); RUNX1-RUNX1T1 occurring in adults.|NCI|N|
C2347551|The date of the most recent calibration event for an instrument.|NCI|N|
C2347610|Sensitivity of a malignancy to administration of chemotherapy, usually defined as the achievement of a partial response or better.|NCI|N|
C2347613|An atypical teratoid/rhabdoid tumor occurring in children.|NCI|N|
C2347629|A poorly differentiated squamous cell carcinoma arising from the salivary gland.|NCI|N|
C2347646|An adverse event that occurred after the patient had completed a clinical study (including any protocol-required post-treatment follow-up).|NCI|N|
C2347677|A disease status whereby the patient does not achieve a complete remission. It may not be limited to the first/initial course of therapy; it may represent all courses.|NCI|N|
C2347678|Disease status just prior to the start of the preparative regimen for hematopoietic stem cell transplantation (HSCT): Primary refractory refers to never achieving a complete remission (CR) from any therapy and also not being in partial remission (PR) at the time of the last evaluation prior to HSCT. PR could have been achieved at some point, but the recipient is no longer in PR.|NCI|N|
C2347690|Indicates that a person has received a degree allowing them to practice a profession, such as law, medicine, music, or ministry.|NCI|N|
C2347692|Progression of multiple myeloma or plasma cell leukemia requires any one or more of the following: Increase of 25% or more from baseline in: serum M-component with an absolute increase 0.5 g/dL or more (for progressive disease, serum M-component increases of 1 g/dL or more are sufficient to define relapse if the starting M component is 5 g/dL or more); urine M-component with an absolute increase 200 mg. or more/ 24 hours; for recipients without measurable serum and urine M-protein levels: the difference between involved and uninvolved free light chain levels (absolute increase more than 10 mg/dL); bone marrow plasma cell percentage (absolute percentage 10% or more); definite development of new bone lesions or soft tissue plasmacytomas, or definite increase in the size of any existing bone lesions or soft tissue plasmacytomas; development of hypercalcemia (corrected serum calcium more than 11.5 mg/dL or 2.65 mmol) that can be attributed solely to the plasma cell proliferative disorder. Progression of disease requires two consecutive assessments made at any time before classification as disease progression, and/or the institution of any new therapy.|NCI|N|
C2347724|Corrected QT interval longer than 500 msec, in accordance with Bazett''s correction formula.|NCI|N|
C2347725|An electrocardiographic finding of a corrected QT interval greater than 500 msec, in accordance with Fridericia''s correction formula.|NCI|N|
C2347747|Classic Hodgkin lymphoma that occurs in adults.|NCI|N|
C2347748|An erythroleukemia occurring in adults.|NCI|N|
C2347749|A grade III meningioma that occurs during adulthood.|NCI|N|
C2347750|A grade II meningioma that occurs during adulthood.|NCI|N|
C2347751|A grade I meningioma that occurs during adulthood.|NCI|N|
C2347753|A pure erythroid leukemia occurring in adults.|NCI|N|
C2347755|A supratentorial embryonal tumor, not otherwise specified that occurs in adults.|NCI|N|
C2347756|An advanced Hodgkin lymphoma with favorable prognosis.|NCI|N|
C2347757|A classic Hodgkin lymphoma that occurs during childhood.|NCI|N|
C2347758|A grade III meningioma that occurs during childhood.|NCI|N|
C2347759|A grade II meningioma that occurs during childhood.|NCI|N|
C2347760|A grade I meningioma that occurs during childhood.|NCI|N|
C2347761|An uncommon hematologic malignancy occurring during childhood. Many of the morphologic, immunophenotypic, and genetic changes seen in adult myelodysplastic syndromes are also observed in the childhood variants of the disease. Children present with neutropenia and thrombocytopenia more often than adults, and bone marrow hypocellularity is more often seen in children than adults.|NCI|N|
C2347762|A mature or immature teratoma occurring in children.|NCI|N|
C2347767|Chromobox protein homolog 1 (185 aa, ~21 kDa) is encoded by the human CBX1 gene. This soluble, nuclear protein plays a role in epigenetic repression of chromatin and association of heterochromatin with the inner nuclear membrane.|NCI|N|
C2347783|The results of any chemical or enzymatic analyses of body fluids and tissues of an organism.|NCI|N|
C2347844|Complete response of multiple myeloma or plasma cell leukemia is characterized by negative immunofixation on serum and urine samples, and disappearance of any soft tissue plasmacytomas, and less than 5% plasma cells in the bone marrow (confirmation with repeat bone marrow biopsy not needed). Complete response requires two consecutive assessments made at any time before the institution of any new therapy, and no known evidence of progressive or new bone lesions if radiographic studies were performed; radiographic studies are not required to satisfy complete response requirements.|NCI|N|
C2347850|Problem associated with the deviations from documented system specifications that affects overall system performance and/or the performance of an individual medical device connected to that system.|NCI|N|
C2347854|A characteristic used to qualify the adverse event as unclassified in term of its relation to the medical intervention. According to WHO causality assessment criteria of suspected adverse reactions it is applicable to clinical event, including laboratory test abnormality, reported as an adverse reaction, about which more data is essential for a proper assessment or the additional data are under examination.|NCI|N|
C2347861|The patient had achieved a complete response; received more therapy and continued in complete response.|NCI|N|
C2347881|Problem associated with excessive radiation emitted from radiological or diagnostic devices.|NCI|N|
C2347896|A rationale for executing a plan of action.|NCI|N|
C2347912|The reemergence of a spinal cord neoplasm in adulthood after a period of remission.|NCI|N|
C2347914|The reemergence of a spinal cord neoplasm in childhood after a period of remission.|NCI|N|
C2347917|The reemergence of a spinal cord neoplasm after a period of remission.|NCI|N|
C2347922|Spinal cord neoplasm in adulthood which is resistant to treatment.|NCI|N|
C2347923|Brain neoplasm that is resistant to treatment.|NCI|N|
C2347924|A primary central nervous system neoplasm that is resistant to treatment.|NCI|N|
C2347925|Spinal cord neoplasm in childhood which is resistant to treatment.|NCI|N|
C2347926|Spinal cord neoplasm resistant to treatment.|NCI|N|
C2347944|Relapse from complete response of multiple myeloma or plasma cell leukemia requires one or more of the following: reappearance of serum or urine M-protein by immunofixation or electrophoresis; development of 5% or more plasma cells in the bone marrow (relapse from complete response has a 5% cutoff vs.10% for other categories of relapse); appearance of any other sign of progression (e.g., new plasmacytoma, lytic bone lesion, hypercalcemia). Relapse requires two consecutive assessments made at any time before classification as relapse, and/or the institution of any new therapy.|NCI|N|
C2347945|A characteristic used to qualify the adverse event as unclassifiable in term of its relation to the medical intervention. According to WHO causality assessment criteria of suspected adverse reactions it is applicable to an adverse reaction which cannot be judged because information about it is insufficient or contradictory, and cannot be supplemented or verified.|NCI|N|
C2347963|An electrocardiographic finding of ventricular tachycardia originating in the right ventricular outflow tract.|NCI|N|
C2347979|A central nervous system neoplasm arising from the fourth ventricle. It is characterized by the presence of neurocytes forming pseudorosettes and astrocytes which contain Rosenthal fibers. Cytologic atypia is minimal.|NCI|N|
C2347992|An advanced Hodgkin lymphoma with unfavorable prognosis.|NCI|N|
C2348037|Patients with the X-linked hyper IgM syndrome have a deficiency of a protein, CD40 ligand that is found on the surface of T-lymphocytes. As a consequence of the deficiency of this protein, their T-lymphocytes are unable to instruct B-lymphocytes to switch their production of gamma globulins from IgM to IgG and IgA. As a result, patients have decreased levels of IgG and IgA and normal or elevated levels of IgM. In addition, since CD40 ligand is important to other functions of T-lymphocytes, they also have a defect in some of the protective functions of their T-lymphocytes.|NCI|N|
C2348101|Arthritis associated with the destruction of the cartilage and the articular surface of the bone of the joint. This process severely interferes with movement in the joint.|NCI|N|
C2348109|Problem associated with environmental condition that results in the unsafe use of the device. (e.g. electromagnetic fields, noise, vibration, microbiological contamination etc.).|NCI|N|
C2348119|An electrocardiographic finding of ST elevation which is concave upwards, and which is often accompanied by PR segment depression. (CDISC)|NCI|N|
C2348120|An electrocardiographic finding of ST segment elevation or depression.|NCI|N|
C2348199|A rare, genetic cardiac rhythm disease characterized by a short QTc interval on the surface electrocardiogram (ECG) with a high risk of syncope or sudden death due to malignant ventricular arrhythmia.|ORDO|N|
C2348239|A low-grade papillary epithelial neoplasm (adenocarcinoma) with a slow growth pattern. The endolymphatic duct emerges from the posterior wall of the saccule (of the inner ear) and ends in a blind pouch, the endolymphatic sac. Endolymphatic sac tumors (ELSTs) are known under different names in the literature (Heffner tumor, aggressive papillary middle ear tumor, and low-grade adenocarcinoma of endolymphatic sac origin).|HPO|N|
C2348360|An electrocardiographic finding which comprises left, right or bilateral atrial enlargement. This is may be characterized by prolonged P wave duration, increased P wave amplitude, or multi-component P waves. (CDISC)|NCI|N|
C2348362|An electrocardiographic finding suggesting an infarction in the anatomic location of the cardiac septum.|NCI|N|
C2348369|An early Hodgkin lymphoma with favorable prognosis.|NCI|N|
C2348370|An early Hodgkin lymphoma with unfavorable prognosis.|NCI|N|
C2348376|An electrocardiographic finding of a rhythm originating above the ventricles at a site other than the sinoatrial node.|NCI|N|
C2348377|An electrocardiographic finding of three or more consecutive complexes of ventricular origin. The QRS complexes are wide and have an abnormal morphology. (CDISC)|NCI|N|
C2348412|Stable multiple myeloma or plasma cell leukemia is characterized by not meeting the criteria for complete response, very good partial response, partial response or progression of disease. Stable disease requires two consecutive assessments made at any time before the institution of any new therapy, and no known evidence of progressive or new bone lesions if radiographic studies were performed; radiographic studies are not required to satisfy stable disease requirements.|NCI|N|
C2348499|A genetic abnormality that arises from duplications of the juxtamembrane portion of the gene and results in constitutive activation of the FLT3 receptor tyrosine kinase protein in early hematopoietic progenitor cells. It is associated with acute myelogenous leukemia where it appears to correlate with a poor prognosis.|NCI|N|
C2348501|Single nucleotide mutations in the tyrosine kinase domain encoded by the human FLT3 gene that are associated with acute myeloid leukemia and poor prognosis.|NCI|N|
C2348509|An electrocardiographic finding of relatively short duration QRS complexes that originate from the region of the posterior fascicle (or occasionally the anterior fascicle) of the left bundle branch.|NCI|N|
C2348511|Indicates whether a specimen obtained from a subject that has abstained from food and possibly water for the prescribed amount of time; or from a subject who has not abstained from food or water.|NCI|N|
C2348517|A Hodgkin lymphoma with favorable prognosis.|NCI|N|
C2348518|A non-Hodgkin lymphoma with favorable prognosis.|NCI|N|
C2348543|Stringent complete response (sCR) of multiple myeloma or plasma cell leukemia is characterized by complete response plus: normal free light chain ratio, and absence of clonal cells in the bone marrow by immunohistochemistry or immunofluorescence (confirmation with repeat bone marrow biopsy not needed). (Presence and/or absence of clonal cells is based upon the kappa/lambda ratio. An abnormal kappa/lambda ratio by immunohistochemistry and/or immunofluorescence requires a minimum of 100 plasma cells for analysis. An abnormal ratio reflecting the presence of an abnormal clone is kappa/lambda of > 4:1 or < 1:2.). Stringent complete response requires two consecutive assessments made at any time before the institution of any new therapy, and no known evidence of progressive or new bone lesions if radiographic studies were performed; radiographic studies are not required to satisfy stringent complete response requirements.|NCI|N|
C2348553|A reason, motivation, or rationale for the activity-instance, such as the patient condition demands an intervention, or a patient requests that a procedure be performed.|NCI|N|
C2348639|An electrocardiographic finding of a T wave with both positive and negative components. (CDISC)|NCI|N|
C2348640|An electrocardiographic finding in which the T wave appears decreased in amplitude.|NCI|N|
C2348664|A malignant germ cell tumor arising from the testis. It is characterized by a mixture of choriocarcinoma and yolk sac tumor morphologic elements. Patients may present with painless or painful testicular swelling.|NCI|N|
C2348665|The result of the investigation of the absorption, distribution, metabolism, and excretion (ADME) of an experimental substance by an organism.|NCI|N|
C2348726|An undifferentiated carcinoma that arises from the gallbladder. It is characterized by the presence of spindle and giant malignant cells, including osteoclast-like giant cells.|NCI|N|
C2348737|An adenocarcinoma that arises from the gastric mucosa and is characterized by the presence of both glandular and poorly cohesive malignant cellular components.|NCI|N|
C2348811|The results of any analysis that determine the toxicity of a chemical compound.|NCI|N|
C2348819|Triple-negative breast cancer finding is a negative test result that occurs when the cells in the tumor of a breast cancer patient lack the receptors for both estrogen and progesterone and the human epidermal growth factor receptor 2.|NCI|N|
C2348873|Biliary intraepithelial neoplasia characterized by the presence of low grade epithelial atypia.|NCI|N|
C2348874|Biliary intraepithelial neoplasia characterized by the presence of moderate epithelial atypia.|NCI|N|
C2348875|Biliary intraepithelial neoplasia characterized by the presence of high grade epithelial dysplasia.|NCI|N|
C2348908|The absence of detectable HER2/Neu in a tissue sample.|NCI|N|
C2348913|A laboratory test result indicating the presence of HLA-A*01 positive cells in a tissue sample.|NCI|N|
C2348914|A laboratory test result indicating the presence of HLA-A*24 positive cells in a tissue sample.|NCI|N|
C2348915|A laboratory test result indicating the presence of HLA-A*02 positive cells in a tissue sample.|NCI|N|
C2348916|A laboratory test result indicating that cells expressing HLA-A31 were detected in a sample.|NCI|N|
C2348917|A laboratory test result indicating that cells expressing HLA-A3 or HLA-A11 were detected in a sample.|NCI|N|
C2348922|A laboratory test result indicating that cells expressing HLA-DPB1*04 were detected in a sample.|NCI|N|
C2348956|A description of heterogeneous density elements seen in a tissue composition image obtained by sonography.|NCI|N|
C2348988|A description of homogeneous fat lobules seen in a tissue composition image obtained by sonography.|NCI|N|
C2348989|A description of homogeneous fibroglandular elements seen in a tissue composition image obtained by sonography.|NCI|N|
C2348993|An indication or description that an extended period of hospitalization is necessary.|NCI|N|
C2349019|A Hodgkin lymphoma with unfavorable prognosis.|NCI|N|
C2349020|A non-Hodgkin lymphoma with unfavorable prognosis.|NCI|N|
C2349110|Difficulties related to an apparatus used to gain access to arteries and veins.|NCI|N|
C2349117|An electrocardiographic finding of multiple, temporally related, episodes of ventricular tachycardia or fibrillation, occurring three or more times in a 24 hour period.|NCI|N|
C2349118|An electrocardiographic finding of a ventricular tachycardia that is terminated successfully with verapamil administration.|NCI|N|
C2349122|Very good partial response of multiple myeloma or plasma cell leukemia is characterized by serum and urine M-protein detectable by immunofixation but not on electrophoresis, or at least 90% reduction in serum M-protein and urine M-protein level < 100 mg/24 hours. Very good partial response requires two consecutive assessments made at any time before the institution of any new therapy, and no known evidence of progressive or new bone lesions if radiographic studies were performed; radiographic studies are not required to satisfy very good partial response requirements.|NCI|N|
C2349148|A carcinoma that arises from the adrenal cortex and is characterized by the presence of twenty or less mitoses per ten square millimeters.|NCI|N|
C2349152|An electrocardiographic finding of three or more consecutive wide QRS complexes of uncertain origin with a rate greater than a certain threshold (100 or 120 beats per minute are commonly used). (CDISC)|NCI|N|
C2349403|Sudden decompensation of chronic graft versus host disease.|NCI|N|
C2349425|A rare trigeminal autonomic cephalalgia characterized by indomethacin-sensitive, persistent, strictly unilateral headache lasting for more than three months, associated with ipsilateral conjunctival injection, lacrimation, nasal congestion, rhinorrhea, forehead and facial sweating, miosis, ptosis, eyelid edema, and/or restlessness or agitation, and not better accounted for by another type of headache. Migrainous symptoms such as photophobia are often observed. The headache may be continuous (unremitting subtype) or interrupted by remission periods of more than 24 hours (remitting subtype).|ORDO|N|
C2349426|A bilateral, unremitting headache of mild to moderate intensity that occurs daily and may be associated with photophobia, phonophobia, or mild nausea.|NCI|N|
C2349436|A seizure triggered by a migraine.|NCI|N|
C2349578|Asymmetry between native breast and reconstructed breast.|SNOMEDCT_US|N|
C2349595|Low hemoglobin/hematocrit in a fetus as evidenced by percutaneous umbilical cord sampling and Doppler ultrasonographic assessment of the peak velocity of systolic blood flow in the middle cerebral artery.|HPO|N|
C2349671|Fever within the usual recovery period with the possibility that it is etiologically linked to the procedure and may indicate a complication.|SNOMEDCT_US|N|
C2349672|Fever within the usual recovery period with the possibility that it is etiologically linked to the vaccination and may indicate a complication.|SNOMEDCT_US|N|
C2349757|A rare acquired human prion disease characterized by progressive, invariably fatal neurodegeneration resulting from accidental transmission of CJD prions in the course of medical procedures or treatments (treatment with human pituitary growth hormone or gonadotrophin, human dura mater or corneal graft, exposure to contaminated neurosurgical instruments). Patients present rapidly progressive cognitive impairment, as well as myoclonus, visual or cerebellar problems, pyramidal or extrapyramidal features, and/or akinetic mutism. EEG examination may show characteristic generalized periodic sharp wave complexes. Neuropathologic analysis reveals spongiform change, neuronal loss and gliosis, and deposition of abnormal prion protein.|ORDO|N|
C2349944|An electrocardiographic finding of a wide QRS complex with evidence of delayed conduction to the left ventricle, manifest as a widened initial portion of the QRS complex in leads V5, V6, I and aVL and with QRS duration less than 120 ms. (CDISC)|NCI|N|
C2349945|Reduced amplitude (height) of the QRS complex of the electrocardiogram (EKG), defined as amplitudes of all the QRS complexes in the limb leads are less than 5 mm or amplitudes of all the QRS complexes in the precordial leads less than 10 mm.|HPO|N|
C2349952|Carcinoma, predominantly squamous cell, arising from the epithelial cells of the oropharynx.|NCI|N|
C2349994|A dermatophytosis that involves the beard.|MONDO|N|
C2350019|A single lung lesion that is characterized by a small round mass of tissue, usually less than 1 cm in diameter, and can be detected by chest radiography. A solitary pulmonary nodule can be associated with neoplasm, tuberculosis, cyst, or other anomalies in the lung, the CHEST WALL, or the PLEURA.|MSH|N|
C2350037|The first region-restricted episode of CNS inflammatory demyelination in a patient. It is usually characterized by an acute monosymptomatic presentation of the optic nerves, brainstem, or spinal cord. It may not reoccur (isolated), or it may progress to MULTIPLE SCLEROSIS.|MSH|N|
C2350038|A type of developmental disturbance of AMELOGENESIS involving permanent INCISORS and/or first permanent MOLARS. It is characterized by asymmetrical enamel defects with severe hypomineralization.|MSH|N|
C2350059|A malignant neoplasm that affects the ear. Representative examples include ceruminous adenocarcinoma and squamous cell carcinoma of the external ear and adenocarcinoma of the middle ear.|NCI|N|
C2350168|A condition that is characterized by multiple sites of lymphoid infiltration, often with an aggressive, necrotizing lesion of the upper airway. The term was used as a synonym for lethal midline granuloma.|MSH|N|
C2350172|This type is characterized by a bulky solid mass with cysts of <0.5 cm.|MSH|N|
C2350173|This type is macrocystic, characterized by a single or multiple cysts of >2.5 cm.|MSH|N|
C2350174|This type is microcystic, characterized by multiple cysts of 0.5 to 2.5 cm.|MSH|N|
C2350233|An inherited condition characterized by multiple malformations of CARTILAGE and bone including CRANIOSYNOSTOSIS; midface hypoplasia; radiohumeral SYNOSTOSIS; CHOANAL ATRESIA; femoral bowing; neonatal fractures; and multiple joint CONTRACTURES and, occasionally, urogenital, gastrointestinal or cardiac defects. In utero exposure to FLUCONAZOLE, as well as mutations in at least two separate genes are associated with this condition - POR (encoding P450 (cytochrome) oxidoreductase (NADPH-FERRIHEMOPROTEIN REDUCTASE)) and FGFR2 (encoding FIBROBLAST GROWTH FACTOR RECEPTOR 2).|MSH|N|
C2350234|PEComas containing glycogen-rich clear cytoplasm and found in the lung and a wide range of extrapulmonary sites.|MSH|N|
C2350236|Non-infectious inflammation of the interstitial lung tissue of unknown etiology. This category includes desquamative interstitial pneumonia, usual interstitial pneumonia, lymphocytic interstitial pneumonia, acute interstitial pneumonia, and nonspecific interstitial pneumonia.|NCI|N|
C2350242|A degenerative joint disease involving the spine. It is characterized by progressive deterioration of the spinal articular cartilage (cartilage, articular), usually with hardening of the subchondral bone and outgrowth of bone spurs (osteophyte).|MONDO|N|
C2350270|Degradation or wasting of the PERIODONTIUM tissues that may involve the gum (GINGIVA), the alveolar bone (ALVEOLAR PROCESS), the DENTAL CEMENTUM, or the PERIODONTAL LIGAMENT.|MSH|N|
C2350431|An unexplained illness which is characterized by skin manifestations including non-healing lesions, itching, and the appearance of fibers.|MSH|N|
C2350449|An inflammatory disease and serious complication of PANCREAS TRANSPLANTATION. It is caused by a premature activation of pancreatic proenzymes leading to autodigestion of the gland and can be attributed to immunological or nonimmunological causes.|MSH|N|
C2350476|A rare form of myositis that affects only the orbital muscles.|NCI|N|
C2350529|A aspergillosis that involves the lung.|MONDO|N|
C2350621|A chronic granulomatous inflammation involving the deep dermis and the subcutaneous tissues. It is caused by fungi and actinomycetes.|MONDO|N|
C2350873|Disease resulting from exposure to beryllium. Entry into the body is not limited to the inhalation route.|MSH|N|
C2350875|A form that is characterized by partial or complete obstruction of bronchiolar lumens resulting from chronic bronchiolar inflammation, scarring, and smooth muscle hypertrophy.|MSH|N|
C2350879|Pulmonary eosinophilia or pneumonia caused by parasitic infections in tropical areas .|MSH|N|
C2350988|A form that is histologically characterized by intraluminal polyps of organizing connective tissue.|MSH|N|
C2355645|A neurologic syndrome following injury of the spinal sympathetic nerves of the neck. The injury usually results from arthritis or pinching by the adjacent vertebrae. Symptoms include facial pain, chronic allergies, dizziness, neck pain, ear pain and vertigo.|NCI|N|
C2362324|Body mass index at or above 95th percentile as compared to children of the same age and sex|SNOMEDCT_US|N|
C2362538|An adenoma or carcinoma of the anterior lobe of the pituitary gland that produces thyrotropin.|MONDO|N|
C2362621|A disorder characterized by an increase in sensitivity of the skin to light.|NCI|N|
C2362742|A congenital abnormality characterized by the presence of abnormally small convolutions in the brain. It results in mental retardation.|NCI|N|
C2362760|An electrocardiographic finding of pathologic Q waves with accompanying ST elevation in leads V3 and V4, which is suggestive of acute myocardial infarction of the anterior wall of the left ventricle. (CDISC)|NCI|N|
C2362792|Usually found in girls between 6 months and 6 years of age, this condition occurs wherein the labia grow together instead of as 2 separate folds, thereby blocking the opening of the vagina. It is caused by conditions such as repeated diaper rash, urine and stool infections, and sexual abuse. The condition often spontaneously corrects or responds to the application of estrogen cream.|NCI|N|
C2362822|A cancer involving a femur.|MONDO|N|
C2363129|Benign epilepsy of childhood with centrotemporal spikes (BECTS) or sharp waves, also known as rolandic epilepsy, is the most common idiopathic childhood epilepsy syndrome (Neubauer et al., 1998). It is termed 'rolandic' epilepsy because of the characteristic features of partial seizures involving the region around the lower portion of the central gyrus of Rolando. This results in classic focal seizures that affect the vocal tract, beginning with guttural sounds at the larynx and sensorimotor symptoms that progress to the tongue, mouth, and face, resulting in hypersalivation and speech arrest. Seizures most often occur in sleep shortly before awakening. The disorder occurs more often in boys than in girls (3:2). Rolandic epilepsy is considered a neurodevelopmental disorder, affecting 0.2% of the population. Affected individuals may have learning disabilities or behavioral problems; however, the seizures and accompanying problems usually remit during adolescence (summary by Strug et al., 2009).
See also focal epilepsy and speech disorder (FESD; 245570), which is caused by mutation in the GRIN2A gene (138253) on chromosome 16p13. Some patients with GRIN2A mutations show features consistent with a clinical diagnosis of BECTS. Some patients with DEPDC5 (614191) mutations may show features consistent with rolandic epilepsy (see FFEVF, 604364).|OMIM|N|
C2363142|A rare mature T-cell neoplasm characterized by proliferation of small to medium-sized prolymphocytes with a mature post-thymic T-cell phenotype, involving the peripheral blood, bone marrow, lymph nodes, liver, spleen, and sometimes the skin. T-cell receptor genes are clonally rearranged. Patients typically present with hepatosplenomegaly, generalized lymphadenopathy, high leukocyte count with normal serum immunoglobulins, anemia, and thrombocytopenia. HTLV-1 serology is negative. The disease course is aggressive with generally poor prognosis.|ORDO|N|
C2363734|Aberrant growth of the placenta.|NCI|N|
C2363744|A lymphoproliferative disorder associated with Epstein-Barr virus. This category includes, but is not limited to, Burkitt lymphoma, classic Hodgkin lymphoma, and lymphomas arising in immunocompromised individuals.|NCI|N|
C2363771|A condition where one or both of the two principal meridians focus in the front of the retina when the eye is at rest.|HPO|N|
C2363895|The reemergence of breast sarcoma after a period of remission.|NCI|N|
C2363903|An extremely rare slow-growing glial neoplasm of the central nervous system, usually arising in a superficial location in the cerebrum, affecting all ages and both sexes, and characterized by intractable seizures and headaches, with most cases being cured by surgical incision alone and therefore having a good prognosis.|ORDO|N|
C2363919|Similar to depression in adults, childhood depression is characterized by a prolonged depressed or irritable mood accompanied by a significant loss of interest in activities, changes in appetite or sleep, decreased energy, feelings of worthlessness, and/or recurrent thoughts of death or suicide.|NCI|N|
C2363934|A developmental defect characterized by lack of formation of the ductus venosus (a shunt that allows oxygenated blood in the umbilical vein to bypass the liver in the fetal circulation).|HPO|N|
C2363939|An electrocardiographic finding of intermittent failure of atrial electrical impulse conduction to the ventricles, characterized by two or more consecutive non-conducted P waves. (CDISC)|NCI|N|
C2363966|Pulmonary hypertensive crisis involves sudden and potentially lethal increases in PAP and PVR that cause acute rise in right atrial and right ventricular end-diastolic pressure accompanied by low cardiac output.|HPO|N|
C2364040|Fluctuation of temperature between hypothermia and hyperthermia|CCC|N|
C2364082|A decreased sensitivity to odorants (that is, a decreased ability to perceive odors).|HPO|N|
C2364111|A rare condition that is characterized by a complete loss of taste function of the tongue.|HPO|N|
C2364122|Change in or modification of actions needed to improve health state|CCC|N|
C2364126|Change in or modification of internal secretions or hormones|CCC|N|
C2364135|A feeling of mental or physical uneasiness, pain, or distress.|NCI|N|
C2364159|Change in or modification of the spirit or soul|CCC|N|
C2364164|An abnormality of the regulation of body fluids.|HPO|N|
C2364172|Voluntary cooperation of the patient in taking drugs or medicine as prescribed. This includes timing, dosage, and frequency.|MSH|N|
C2364194|The patient and designated support person communicate an understanding of medication management (i.e., medications to be used, dose, purpose, frequency, route, desired, and adverse effects).|PNDS|N|
C2364291|Well nourished|LNC|N|
C2364333|More than adequate intake or absorption of food or nutrients|CCC|N|
C2364334|Change in or modification of the pumping action of the heart or blood vessels|CCC|N|
C2364351|Excessive tension from moving to a new location|CCC|N|
C2364378|Failure to follow therapeutic recommendations on tests to identify disease or assess health condition.|CCC|N|
C2364379|Failure to follow the prescribed diet/food intake.|CCC|N|
C2364382|Failure to follow measures to prevent injury, danger, or loss|CCC|N|
C2364386|Susceptible to behaviors in which an individual demonstrates that he or she can be physically, emotionally, and/or sexually harmful to others.|NANDA-I|N|
C2367273|A bacterial infection that is caused by Staphylococcus aureus that is susceptible to methicillin.|NCI|N|
C2367313|Parental height calculation used to predict their child''s expected adult height.|SNOMEDCT_US|N|
C2367455|The reemergence of acute megakaryoblastic leukemia after a period of remission.|NCI|N|
C2367458|The reemergence of acute undifferentiated leukemia after a period of remission.|NCI|N|
C2584331|Control of elimination of urine from the bladder|NOC|N|
C2584556|Tubulointerstitial nephritis resulting from a drug exposure.|NCI|N|
C2584611|An inherited coagulation disorder characterized by recurrent venous thrombosis symptoms due to reduced synthesis and/or activity levels of protein S.|ORDO|N|
C2584620|An instance of thrombophilia that is inherited.|MONDO|N|
C2584625|Disease that manifests either a quantitative or a qualitative defect of factor I|SNOMEDCT_US|N|
C2584658|A loss of consciousness followed by stiffening and brief clonic movements affecting some or all limbs, often misinterpreted as an epileptic seizure.|HPO|N|
C2584774|Inherited disorders of fibrinogen affect either the quantity (afibrinogenemia and hypofibrinogenemia; 202400) or the quality (dysfibrinogenemia; 616004) of the circulating fibrinogen or both (hypodysfibrinogenemia; see 616004). Afibrinogenemia is characterized by the complete absence of immunoreactive fibrinogen. Bleeding due to afibrinogenemia usually manifests in the neonatal period, with 85% of cases presenting umbilical cord bleeding, but a later age of onst is not unusual. Bleeding may occur in the skin, gastrointestinal tract, genitourinary tract, or the central nervous system, with intracranial hemorrhage being reported as the major cause of death. Patients are susceptible to spontaneous rupture of the spleen. Menstruating women may experience menometrorrhagia. First-trimester abortion is common. Both arterial and venous thromboembolic complications have been reported (summary by de Moerloose and Neerman-Arbez, 2009).
Hypofibrinogenemia is characterized by reduced amounts of immunoreactive fibrinogen. Patients are often heterozygous carriers of afibrinogenemia mutations and are usually asymptomatic. However, they may bleed when exposed to trauma or if they have a second associated hemostatic abnormality. Women may experience miscarriages. Liver disease occurs in rare cases (summary by de Moerloose and Neerman-Arbez, 2009).|OMIM|N|
C2584778|A rare, non-hereditary thrombotic thrombocytopenic purpura (TTP), characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and single or multiple organ failure of variable severity.|ORDO|N|
C2584889|A measurement of the total number of ectopic pregnancies experienced by a female subject.|NCI|N|
C2584939|Personal actions to follow food and fluid intake recommended by a health professional for a specific health condition|NOC|N|
C2584947|Epileptic seizure provoked by anoxia|SNOMEDCT_US|N|
C2585162|Self-initiated actions to monitor and optimize a balanced nutritional dietary regimen|NOC|N|
C2585231|A group of conditions characterized by impaired platelet function, which may be suggested by clinical evidence of bleeding in the setting of a normal platelet count.|NCI|N|
C2585542|**Description:**Specimen has been received by the participating organization/department.CHAR(13)|HL7V3.0|N|
C2585666|Community response following a natural or man-made calamitous event|NOC|N|
C2585769|Personal actions to administer medication safely to meet therapeutic effects for a specific condition as recommended by a health professional|NOC|N|
C2586031|Hereditary thrombophilia due to congenital antithrombin deficiency is a rare, genetic, hematological disease characterized by decreased levels of antithrombin activity in plasma resulting in impaired inactivation of thrombin and factor Xa. Patients have an increased risk for venous thromboembolism, usually in the deep veins of the arms, legs and pulmonary system and, on occasion, in other venous territories (e.g. cerebral veins or sinus, mesenteric, portal, hepatic, renal and/or retinal veins).|ORPHANET|N|
C2586056|Atrial fibrillation (AF) that cannot be successfully terminated by cardioversion, and longstanding (more than 1 year) AF, where cardioversion is not indicated or has not been attempted, is termed permanent.|HPO|N|
C2586081|Personal actions to eliminate tobacco use|NOC|N|
C2586108|Severity of observed or reported prolonged generalized fatigue|NOC|N|
C2586154|An indication that a patient intends to continue pregnancy.|NCI|N|
C2586211|The formation of a blood clot in the lumen of a vessel; causes include coagulation disorders, and vascular endothelial injury.|NCI|N|
C2598844|The process of conceiving a baby.|NCI|N|
C2603363|The smallest angle of separation that allows an image-forming device to distinguish two objects as distinct entities.|NCI|N|
C2607914|It is characterized by one or more symptoms including sneezing, itching, nasal congestion, and rhinorrhea.|HPO|N|
C2607929|Carney complex (CNC) is characterized by skin pigmentary abnormalities, myxomas, endocrine tumors or overactivity, and schwannomas. Pale brown to black lentigines are the most common presenting feature of CNC and typically increase in number at puberty. Cardiac myxomas occur at a young age, may occur in any or all cardiac chambers, and can manifest as intracardiac obstruction of blood flow, embolic phenomenon, and/or heart failure. Other sites for myxomas include the skin, breast, oropharynx, and female genital tract. Primary pigmented nodular adrenocortical disease (PPNAD), which causes Cushing syndrome, is the most frequently observed endocrine tumor in CNC, occurring in approximately 25% of affected individuals. Large-cell calcifying Sertoli cell tumors (LCCSCTs) are observed in one third of affected males within the first decade and in most adult males. Up to 75% of individuals with CNC have multiple thyroid nodules, most of which are nonfunctioning thyroid follicular adenomas. Clinically evident acromegaly from a growth hormone (GH)-producing adenoma is evident in approximately 10% of adults. Psammomatous melanotic schwannoma (PMS), a rare tumor of the nerve sheath, occurs in an estimated 10% of affected individuals. The median age of diagnosis is 20 years.|GeneReviews|N|
C2607931|A malignant neoplasm that arises from the hilar region of the lung.|NCI|N|
C2607932|A malignant neoplasm that affects the inner layer of the pericardium.|NCI|N|
C2607947|A unilateral absence of sensory perception of sound.|HPO|N|
C2608043|A rare chronic inflammatory cicatricial alopecia of the scalp occurring in middle-aged adults and characterized by the development of alopecic patches with slowly centrifugal spread predominantly in the vertex and occipital area of the scalp, associated with perifollicular erythema, follicular pustules and hemorrhagic crusts.|ORDO|N|
C2608045|Trilateral retinoblastoma refers to bilateral (or less often unilateral) retinoblastoma associated with an intracranial primitive neuroectodermal tumor in the pineal or suprasellar region. This syndrome is often associated with a increased familial incidence of retinoblastoma. (From Cancer 86(1): 135-141, 1999).|NCI|N|
C2608055|Renal cell carcinoma that has developed in relatives of patients with history of renal cell carcinoma.|NCI|N|
C2608083|The phenotypic spectrum of ATP8B1 deficiency ranges from severe through moderate to mild. Severe ATP8B1 deficiency is characterized by infantile-onset cholestasis that progresses to cirrhosis, hepatic failure, and early death. Although mild-to-moderate ATP8B1 deficiency initially was thought to involve intermittent symptomatic cholestasis with a lack of hepatic fibrosis, it is now known that hepatic fibrosis may be present early in the disease course. Furthermore, in some persons with ATP8B1 deficiency the clinical findings can span the phenotypic spectrum, shifting over time from the mild end of the spectrum (episodic cholestasis) to the severe end of the spectrum (persistent cholestasis). Sensorineural hearing loss (SNHL) is common across the phenotypic spectrum.|GeneReviews|N|
C2608087|Some individuals with distal hereditary motor neuropathy, type II have weakening of the muscles in the hands and forearms. This weakening is less pronounced than in the lower limbs and does not usually result in paralysis.\n\nOnset of distal hereditary motor neuropathy, type II ranges from the teenage years through mid-adulthood. The initial symptoms of the disorder are cramps or weakness in the muscles of the big toe and later, the entire foot. Over a period of approximately 5 to 10 years, affected individuals experience a gradual loss of muscle tissue (atrophy) in the lower legs. They begin to have trouble walking and running, and eventually may have complete paralysis of the lower legs. The thigh muscles may also be affected, although generally this occurs later and is less severe.\n\nDistal hereditary motor neuropathy, type II is a progressive disorder that affects nerve cells in the spinal cord. It results in muscle weakness and affects movement, primarily in the legs.|MedlinePlus Genetics|N|
C2609043|A potentially lethal complication of pheochromocytoma that may occur as a result of anesthesia, surgery or during pregnancy and childbirth. The crisis is caused by excessive release of catecholamines and may be drug-induced secondary to histamine release, dopamine receptor blockade, or sympathomimetic action. Crisis may also result from mechanical factors such as squeeze of the tumor during surgery.|SNOMEDCT_US|N|
C2609059|A rare idiopathic inflammatory myopathy (IIM) characterized principally by myositis, generally symmetrical arthritis and interstitial lung disease (ILD) in association with serum autoantibodies to aminoacyl-transfer RNA synthetases (anti-ARS). More variable features include arthralgia, Raynaud phenomenon, heliotrophic rash, distal esophageal dysmotility and mechanic's hands.|ORDO|N|
C2609072|A congenital abnormality consisting of clefting in the jaw, which results from incomplete fusion of the embryonic mandibular prominence.|NCI|N|
C2609093|A neuroendocrine tumor that arises from the islet cells of the pancreas and has spread to another anatomic site.|NCI|N|
C2609129|A rare pancreatic disease characterized by chronic non-alcoholic pancreatitis that presents with abdominal pain, steatorrhea, obstructive jaundice and responds well to steroid therapy and is seen in two subforms: type which affects elderly males, involves other organs and has increased immunoglobin G4 (IgG4) levels and type 2 which affects both sexes equally but presents at a younger age and has no other organ involvement or increased IgG4 levels.|ORDO|N|
C2609160|Irregular blood flow in the heart after surgical correction of a septal defect.|NCI|N|
C2609166|A twin whose estimated fetal weight is determined to have 20% or greater difference from its sibling.|NCI|N|
C2609173|A syndrome in preterm neonates exposed to benzyl alcohol preservative in intravascular solutions that is characterized by unremitting gasping respirations and may include anion gap metabolic acidosis, neurologic deterioration, renal failure, convulsions, intraventricular hemorrhage, and cardiovascular collapse.|NCI|N|
C2609176|A disorder of cardiac function secondary to hypersensitivity reactions. It is characterized by coexistence of acute coronary syndromes and cardiac MAST CELL and PLATELET ACTIVATION. It may be induced by exposure to drugs (e.g., antibiotics, anesthetics, contrast media), food, and environmental triggers (e.g., insect bites and stings, poison ivy).|MSH|N|
C2609232|A product has been determined to be counterfeit.|NCI|N|
C2609249|Blockage at the level of the bladder and the ureter caused by stenosis of the ureteral valves or failure of a narrow juxtavesical ureteral segment to dilate due to segmented fibrosis or localized absence of muscle.|HPO|N|
C2609259|Pelvic pain due to physiological pelvic ligament relaxation and increased joint mobility.|NCI|N|
C2609268|In general, gallbladder disease (GBD) is one of the major digestive diseases. GBD prevalence is particularly high in some minority populations in the United States, including Native and Mexican Americans. Gallstones composed of cholesterol (cholelithiasis) are the common manifestations of GBD in western countries, including the United States. Most people with gallstones remain asymptomatic through their lifetimes; however, it is estimated that approximately 10 to 50% of individuals eventually develop symptoms. Significant risk factors associated with GBD are age, female sex, obesity (especially central obesity), lipids, diet, parity, type 2 diabetes (125853), medications, and Mexican American ethnicity. GBD appears to be strongly related to the metabolic syndrome (605552) and/or its major components, such as hyperinsulinism, dyslipidemia, and abdominal adiposity (Boland et al., 2002; Tsai et al., 2004). Infection, specifically by Helicobacter, has been implicated in cholelithiasis and cholecystitis (Silva et al., 2003; Maurer et al., 2005).
Low phospholipid-associated cholelithiasis is a specific form of gallbladder disease characterized by young-adult onset of chronic cholestasis with intrahepatic sludge and cholesterol cholelithiasis. Affected individuals have recurrence of the disorder after cholecystectomy and show a favorable response to treatment with ursodeoxycholic acid (UDCA) (summary by Pasmant et al., 2012).
Mutation in the ABCB4 gene can cause a spectrum of related diseases, including the more severe progressive familial intrahepatic cholestasis-3 (PFIC3; 602347), intrahepatic cholestasis of pregnancy-3 (ICP3; 614972), andoral contraceptive-induced cholestasis (OCIC; see 614972).
Genetic Heterogeneity of Gallbladder Disease
Two major susceptibility loci for symptomatic gallbladder disease have been identified on chromosome 1p in Mexican Americans (GBD2, 609918; GBD3, 609919). In addition, variations in the ABCG8 gene (605460) on chromosome 2p21 confer susceptibility to gallbladder disease (GBD4; 611465).|OMIM|N|
C2609319|Skin eruption consisting of papules and pustules, most often appearing in the face, scalp, and upper trunk. It is usually caused by corticosteroids or epidermal growth factor receptor inhibitors.|NCI|N|
C2609414|Sudden loss of renal function, as manifested by decreased urine production, and a rise in serum creatinine or blood urea nitrogen concentration (azotemia).|HPO|N|
C2612546|The removal of one or more electrons from a lipid, with or without the concomitant removal of a proton or protons, by reaction with an electron-accepting substance, by addition of oxygen or by removal of hydrogen. [GOC:BHF, GOC:mah]|GO|N|
C2613439|The process of hematopoiesis occurring outside of the bone marrow (in the liver, thymus, and spleen) in the postnatal organisms.|HPO|N|
C2673186|Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the ACTA2 gene.|MONDO|N|
C2673187|Familial erythrocytosis-4 (ECYT4) is an autosomal dominant disorder characterized by increased serum red blood cell mass and hemoglobin concentration as well as elevated serum erythropoietin (EPO; 133170).
For a general phenotypic description and a discussion of genetic heterogeneity of familial erythrocytosis, see ECYT1 (133100).|OMIM|N|
C2673193|Brugada syndrome is characterized by cardiac conduction abnormalities (ST segment abnormalities in leads V1-V3 on EKG and a high risk for ventricular arrhythmias) that can result in sudden death. Brugada syndrome presents primarily during adulthood, although age at diagnosis may range from infancy to late adulthood. The mean age of sudden death is approximately 40 years. Clinical presentations may also include sudden infant death syndrome (SIDS; death of a child during the first year of life without an identifiable cause) and sudden unexpected nocturnal death syndrome (SUNDS), a typical presentation in individuals from Southeast Asia. Other conduction defects can include first-degree AV block, intraventricular conduction delay, right bundle branch block, and sick sinus syndrome.|GeneReviews|N|
C2673195|The spectrum of COL4A1-related disorders includes: small-vessel brain disease of varying severity including porencephaly, variably associated with eye defects (retinal arterial tortuosity, Axenfeld-Rieger anomaly, cataract) and systemic findings (kidney involvement, muscle cramps, cerebral aneurysms, Raynaud phenomenon, cardiac arrhythmia, and hemolytic anemia). On imaging studies, small-vessel brain disease is manifest as diffuse periventricular leukoencephalopathy, lacunar infarcts, microhemorrhage, dilated perivascular spaces, and deep intracerebral hemorrhages. Clinically, small-vessel brain disease manifests as infantile hemiparesis, seizures, single or recurrent hemorrhagic stroke, ischemic stroke, and isolated migraine with aura. Porencephaly (fluid-filled cavities in the brain detected by CT or MRI) is typically manifest as infantile hemiparesis, seizures, and intellectual disability; however, on occasion it can be an incidental finding. HANAC (hereditary angiopathy with nephropathy, aneurysms, and muscle cramps) syndrome usually associates asymptomatic small-vessel brain disease, cerebral large vessel involvement (i.e., aneurysms), and systemic findings involving the kidney, muscle, and small vessels of the eye. Two additional phenotypes include isolated retinal artery tortuosity and nonsyndromic autosomal dominant congenital cataract.|GeneReviews|N|
C2673196|Lipoprotein glomerulopathy is an uncommon kidney disease characterized by proteinuria, progressive kidney failure, and distinctive lipoprotein thrombi in glomerular capillaries (Saito et al., 2006). It mainly affects people of Japanese and Chinese origin; in these populations, it is associated with mutations in the gene that encodes apolipoprotein E (APOE; 107741). The disorder had rarely been described in Caucasians.|OMIM|N|
C2673198|Familial cold autoinflammatory syndrome-2 (FCAS2) is an autosomal dominant autoinflammatory disorder characterized by episodic and recurrent rash, urticaria, arthralgia, myalgia, and headache. In most patients, these episodes are accompanied by fever and serologic evidence of inflammation. Most, but not all, patients report exposure to cold as a trigger for the episodes. Additional features may include abdominal pain, thoracic pain, and sensorineural deafness. The age at onset is variable, ranging from the first year of life to middle age, and the severity and clinical manifestations are heterogeneous (summary by Shen et al., 2017).
For a phenotypic description and a discussion of genetic heterogeneity of familial cold autoinflammatory syndrome, see FCAS1 (120100).|OMIM|N|
C2673257|Mutations in the KCTD7 gene cause a severe neurodegenerative phenotype characterized by onset of intractable myoclonic seizures before age 2 years and accompanied by developmental regression. The initial description was consistent with a form of progressive myoclonic epilepsy (designated here as EPM3), whereas a later report identified intracellular accumulation of autofluorescent lipopigment storage material, consistent with neuronal ceroid lipofuscinosis (designated CLN14). Ultrastructural findings on  skin biopsies thus appear to be variable. However, clinical features are generally consistent between reports (summary by Staropoli et al., 2012).
For a general phenotypic description and a discussion of genetic heterogeneity of progressive myoclonic epilepsy, see EPM1A (254800).
For a general phenotypic description and a discussion of genetic heterogeneity of neuronal ceroid lipofuscinosis, see CLN1 (256730).|OMIM|N|
C2673302|Excretion of oligosaccharides conjugated to sialic acid in the urine.|HPO|N|
C2673377|GNPTAB-related disorders comprise the phenotypes mucolipidosis II (ML II) and mucolipidosis IIIa/ß (ML IIIa/ß), and phenotypes intermediate between ML II and ML IIIa/ß. ML II is evident at birth and slowly progressive; death most often occurs in early childhood. Orthopedic abnormalities present at birth may include thoracic deformity, kyphosis, clubfeet, deformed long bones, and/or dislocation of the hip(s). Growth often ceases in the second year of life; contractures develop in all large joints. The skin is thickened, facial features are coarse, and gingiva are hypertrophic. All children have cardiac involvement, most commonly thickening and insufficiency of the mitral valve and, less frequently, the aortic valve. Progressive mucosal thickening narrows the airways, and gradual stiffening of the thoracic cage contributes to respiratory insufficiency, the most common cause of death. ML IIIa/ß becomes evident at about age three years with slow growth rate and short stature; joint stiffness and pain initially in the shoulders, hips, and fingers; gradual mild coarsening of facial features; and normal to mildly impaired cognitive development. Pain from osteoporosis becomes more severe during adolescence. Cardiorespiratory complications (restrictive lung disease, thickening and insufficiency of the mitral and aortic valves, left and/or right ventricular hypertrophy) are common causes of death, typically in early to middle adulthood. Phenotypes intermediate between ML II and ML IIIa/ß are characterized by physical growth in infancy that resembles that of ML II and neuromotor and speech development that resemble that of ML IIIa/ß.|GeneReviews|N|
C2673394|A dislocation is a separation of the radius and ulna bones where they normally meet. The radioulnar joints are two locations, proximal and distal, in which the radius and ulna articulate in the forearm. Both can dislocate.|HPO|N|
C2673395|Overgrowth of the proximal part of the fibula.|HPO|N|
C2673431|A structural abnormality of the myelinated axons (white matter) located near the cerebral ventricles.|HPO|N|
C2673441|High urine calcium in the presence of hypocalcemia.|HPO|N|
C2673443|An increased concentration of magnesium the urine.|HPO|N|
C2673444|A lower than normal concentration of citrate(3-) in the urine.|HPO|N|
C2673462|Increased susceptibility to Staphylococcus aureus infections, as manifested by recurrent episodes of Staphylococcus aureus infection.|HPO|N|
C2673477|A rare, genetic form of hypophosphatasia (HPP) characterized by markedly impaired bone mineralization <i>in utero</i> due to reduced activity of serum alkaline phosphatase (ALP) and causing stillbirth or respiratory failure within days of birth.|ORDO|N|
C2673480|This syndrome is characterized by primary hypergonadotropic hypogonadism and partial alopecia.|ORDO|N|
C2673490|An increased amount of L-homocitrulline in the urine. L-homocitrulline is an L-lysine derivative that is L-lysine having a carbamoyl group at the N(6)-position. It is found in individuals with urea cycle disorders.|HPO|N|
C2673520|Any microvascular complications of diabetes, susceptibility in which the cause of the disease is a mutation in the HFE gene.|MONDO|N|
C2673535|Tyrosine hydroxylase (TH) deficiency is associated with a broad phenotypic spectrum. Based on severity of symptoms/signs as well as responsiveness to levodopa therapy, clinical phenotypes caused by pathogenic variants in TH are divided into (1) TH-deficient dopa-responsive dystonia (the mild form of TH deficiency), (2) TH-deficient infantile parkinsonism with motor delay (the severe form), and (3) TH-deficient progressive infantile encephalopathy (the very severe form). In individuals with TH-deficient dopa-responsive dystonia (DYT5b, DYT-TH), onset is between age 12 months and 12 years; initial symptoms are typically lower-limb dystonia and/or difficulty in walking. Diurnal fluctuation of symptoms (worsening of the symptoms toward the evening and their alleviation in the morning after sleep) may be present. In most individuals with TH-deficient infantile parkinsonism with motor delay, onset is between age three and 12 months. In contrast to TH-deficient DRD, motor milestones are overtly delayed in this severe form. Affected infants demonstrate truncal hypotonia and parkinsonian symptoms and signs (hypokinesia, rigidity of extremities, and/or tremor). In individuals with TH-deficient progressive infantile encephalopathy, onset is before age three to six months. Fetal distress is reported in most. Affected individuals have marked delay in motor development, truncal hypotonia, severe hypokinesia, limb hypertonia (rigidity and/or spasticity), hyperreflexia, oculogyric crises, ptosis, intellectual disability, and paroxysmal periods of lethargy (with increased sweating and drooling) alternating with irritability.|GeneReviews|N|
C2673536|A rare, genetic, non-severe combined immunodeficiency disease characterized by immunodeficiency (manifested by recurrent and/or severe bacterial and viral infections), destructive noninfectious granulomas involving skin, mucosa and internal organs, and various autoimmune manifestations (including cytopenias, vitiligo, psoriasis, myasthenia gravis, enteropathy). Immunophenotypically, T-cell and B-cell lymphopenia, hypogammaglobulinemia, abnormal specific antibody production and impaired T-cell function are observed.|ORDO|N|
C2673558|An increased concentration of glycerol in the urine.|HPO|N|
C2673586|Blockage of the flow of urine from the bladder into the urethra.|HPO|N|
C2673609|A rare intermediate form of junctional epidermolysis bullosa characterized by congenital blistering and erosions confined to intertriginous skin sites, the esophagus, groin, and perineum. Blistering is usually severe and lesions may heal with atrophic scarring and milia formation. Extracutaneous manifestations include nail dystrophy, enamel hypoplasia and dental caries, oral, esophageal and vaginal blisters and erosions.|ORDO|N|
C2673622|A pathologic process that affects the mucosa.|NCI|N|
C2673630|Any hypothyroidism, congenital, nongoitrous in which the cause of the disease is a mutation in the NKX2-5 gene.|MONDO|N|
C2673635|Combined saposin deficiency (PSAPD), a deficiency of prosaposin and saposins A, B, C, and D, is a fatal infantile storage disorder with hepatosplenomegaly and severe neurologic disease (summary by Hulkova et al., 2001).|OMIM|N|
C2673642|This syndrome is characterized by severe hypotonia, lactic acidemia and congenital hyperammonemia. It has been described in three newborns born to consanguineous parents. Ultrasound examination during the 36th week of pregnancy revealed generalized edema. Hypertrophic cardiomyopathy and tubulopathy developed within the first week of life and the infants died within the first month. The activities of enzymes in the mitochondrial respiratory chain were reduced in the muscles of the patients. Mutations were identified in the MRPS22 gene on chromosome 3q23, encoding a mitochondrial ribosomal protein|SNOMEDCT_US|N|
C2673648|Primary hypomagnesemia comprises a rare heterogeneous group of disorders characterized by renal or intestinal magnesium wasting that results in symptoms of magnesium depletion such as tetany and seizures. Renal hypomagnesemia-4 (HOMG4) is characterized by low serum magnesium levels, decreased urinary tubular magnesium reabsorption, seizures with onset in early infancy, and moderately impaired intellectual development (summary by Geven et al., 1987; Groenestege et al., 2007).
For a discussion of genetic heterogeneity of hypomagnesemia, see 602014.|OMIM|N|
C2673649|An extremely rare type of spondyloepiphyseal dysplasia described in about 5 patients to date with clinical signs including short stature, peculiar facies with blepharophimosis, upward slanted eyes, abundant eyebrows and eyelashes, coarse voice, and short hands and feet.|SNOMEDCT_US|N|
C2673652|An excessive concavity of the anterior surface of one or more vertebral bodies.|HPO|N|
C2673670|Abnormally curly or curved eyelashes.|HPO|N|
C2673677|Salih myopathy is characterized by muscle weakness (manifest during the neonatal period or in early infancy) and delayed motor development; children acquire independent walking between ages 20 months and four years. In the first decade of life, global motor performance is stable or tends to improve. Moderate joint and neck contractures and spinal rigidity may manifest in the first decade but become more obvious in the second decade. Scoliosis develops after age 11 years. Cardiac dysfunction manifests between ages five and 16 years, progresses rapidly, and leads to death between ages eight and 20 years, usually from heart rhythm disturbances.|GeneReviews|N|
C2673700|Tendon reflexes that are noticeably more active than usual (conventionally denoted 3+ on clinical examination). Brisk reflexes may or may not indicate a neurological lesion. They are distinguished from hyperreflexia by the fact that hyerreflexia is characterized by hyperactive repeating (clonic) reflexes, which are considered to be always abnormal.|HPO|N|
C2673736|Hyperdibasic aminoaciduria, type 1 is characterized by increased renal clearance of lysine, ornithine and arginine, in the presence of normal concentrations of cystine. Heterozygous individuals are asymptomatic but homozygotes display intellectual deficit. To date, 25 heterozygotes and one homozygote have been reported.|MONDO|N|
C2673759|Nonsyndromic hearing loss and deafness (DFNB1) is characterized by congenital non-progressive mild-to-profound sensorineural hearing impairment. No other associated medical findings are present.|GeneReviews|N|
C2673776|Abnormal twisting of arteries or veins.|HPO|N|
C2673793|Inflammation characterised by gingival redness and swelling with spontaneous bleeding.|SNOMEDCT_US|N|
C2673873|BBS13 is an autosomal recessive ciliopathy with features of obesity, polydactyly, and retinitis pigmentosa  (Leitch et al., 2008; Xing et al., 2014).
For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (209900).|OMIM|N|
C2673874|Bardet-Biedl syndrome-14 (BBS14) is an autosomal recessive ciliopathy with features of retinitis pigmentosa, obesity, mental retardation, and renal disease (Leitch et al., 2008).
For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (209900).|OMIM|N|
C2673883|A rare genetic developmental defect during embryogenesis syndrome with the triad of pancreatic fibrosis (and cysts, with a reduction of parenchymal tissue), renal dysplasia (with peripheral cortical cysts, primitive collecting ducts, glomerular cysts and metaplastic cartilage) and hepatic dysgenesis (enlarged portal areas containing numerous elongated binary profiles with a tendency to perilobular fibrosis). Situs abnormalities, skeletal anomalies and anencephaly have also been associated. Patients that survive the neonatal period present renal insufficiency, chronic jaundice and insulin-dependant diabetes.|SNOMEDCT_US|N|
C2673885|This autosomal recessive disorder is designated Meckel syndrome type 7 (MKS7) based on the classic phenotypic triad of (1) cystic renal disease; (2) a central nervous system abnormality, and (3) hepatic abnormalities, as defined by Meckel (1822), Salonen (1984), and Logan et al. (2011). According to these criteria, polydactyly is a variable feature.
Herriot et al. (1991) and Al-Gazali et al. (1996) concluded that Dandy-Walker malformation can be the phenotypic manifestation of a central nervous system malformation in MKS.
For a general phenotypic description and a discussion of genetic heterogeneity of Meckel syndrome, see MKS1 (249000).|OMIM|N|
C2673888|A reduction in the count of nephrons per kidney.|HPO|N|
C2673892|A congenital disorder of the intrahepatic bile ducts characterized by abnormal embryonal development of the ductal plates.|NCI|N|
C2673913|A congenital hypochromic microcytic anemia with progressive liver iron overload paradoxically associated with normal to moderately elevated serum ferritin levels has been described in three unrelated patients.|ORPHANET|N|
C2673922|Autosomal recessive amelogenesis imperfecta pigmented hypomaturation type is characterized by enamel of normal thickness that is hypomineralized and has a mottled appearance. The slightly soft enamel detaches easily from the dentin, and radiographs show a lack of contrast between enamel and dentin (Witkop, 1989).
Genetic Heterogeneity of the Hypomaturation Type of Amelogenesis Imperfecta
See also AI2A2 (612529), caused by mutation in the MMP20 gene (604629); AI2A3 (613211), caused by mutation in the WDR72 gene (613214); and AI2A4 (614832), caused by mutation in the C4ORF26 gene (614829).|OMIM|N|
C2673923|Researchers have described at least 14 forms of amelogenesis imperfecta. These types are distinguished by their specific dental abnormalities and by their pattern of inheritance. Additionally, amelogenesis imperfecta can occur alone without any other signs and symptoms or it can occur as part of a syndrome that affects multiple parts of the body.\n\nAmelogenesis imperfecta is a disorder of tooth development. This condition causes teeth to be unusually small, discolored, pitted or grooved, and prone to rapid wear and breakage. Other dental abnormalities are also possible. These defects, which vary among affected individuals, can affect both primary (baby) teeth and permanent (adult) teeth.|MedlinePlus Genetics|N|
C2673931|An increased concentration of threonine in the urine.|HPO|N|
C2673946|Underdevelopment of the fovea centralis.|HPO|N|
C2673954|Lack of skin pigmentation (coloring).|HPO|N|
C2674051|An inflammatory bowel disease that has material basis in variation in the chromosome region 7q22.|MONDO|N|
C2674173|SADDAN dysplasia (severe achondroplasia with developmental delay and acanthosis nigricans) is a very rare skeletal dysplasia characterized by the constellation of these features. Radiology reveals 'ram's horn' shaped clavicles and reverse bowing of lower limbs. Approximately half of patients die before the fourth week of life secondary to respiratory failure (summary by Zankl et al., 2008).|OMIM|N|
C2674177|Inability to elicit tendon reflexes in the upper limbs.|HPO|N|
C2674218|Any hereditary spherocytosis in which the cause of the disease is a mutation in the ANK1 gene.|MONDO|N|
C2674219|People with the mild form may have very mild anemia or sometimes have no symptoms. People with the moderate form typically have anemia, jaundice, and splenomegaly. Many also develop gallstones. The signs and symptoms of moderate hereditary spherocytosis usually appear in childhood. Individuals with the moderate/severe form have all the features of the moderate form but also have severe anemia. Those with the severe form have life-threatening anemia that requires frequent blood transfusions  to replenish their red blood cell supply. They also have severe splenomegaly, jaundice, and a high risk for developing gallstones. Some individuals with the severe form have short stature, delayed sexual development, and skeletal abnormalities.\n\nThere are four forms of hereditary spherocytosis, which are distinguished by the severity of signs and symptoms. They are known as the mild form, the moderate form, the moderate/severe form, and the severe form. It is estimated that 20 to 30 percent of people with hereditary spherocytosis have the mild form, 60 to 70 percent have the moderate form, 10 percent have the moderate/severe form, and 3 to 5 percent have the severe form.\n\nHereditary spherocytosis is a condition that affects red blood cells. People with this condition typically experience a shortage of red blood cells (anemia), yellowing of the eyes and skin (jaundice), and an enlarged spleen (splenomegaly). Most newborns with hereditary spherocytosis have severe anemia, although it improves after the first year of life. Splenomegaly can occur anytime from early childhood to adulthood. About half of affected individuals develop hard deposits in the gallbladder called gallstones, which typically occur from late childhood to mid-adulthood.|MedlinePlus Genetics|N|
C2674252|The plasma level of vitamin B12 is a modifiable quantitative trait associated with many diseases (Hazra et al., 2008). Vitamin B12 found in meat and milk products is composed of corrin and cobalt rings and is necessary for the formation of red blood cells, DNA synthesis during cell division, and maintenance of the myelin nerve sheath, among other functions. Deficiency in vitamin B12, clinically associated with pernicious anemia, cardiovascular disease, cancer, and neurodegenerative disorders, is often related to poor intestinal B12 absorption rather than direct dietary deficiency.|OMIM|N|
C2674321|Heterozygous protein C deficiency is characterized by recurrent venous thrombosis. However, many adults with heterozygous disease may be asymptomatic (Millar et al., 2000). Individuals with decreased amounts of protein C are classically referred to as having type I deficiency and those with normal amounts of a functionally defective protein as having type II deficiency (Bertina et al., 1984).
Acquired protein C deficiency is a clinically similar disorder caused by development of an antibody against protein C. Clouse and Comp (1986) reviewed the structural and functional properties of protein C and discussed both hereditary and acquired deficiency of protein C.|OMIM|N|
C2674403|Increased dimension of the sclera in the anterior-posterior axis.|HPO|N|
C2674407|Splitting of the retinal layers in the macula.|HPO|N|
C2674432|A reduction of bone mineral density, that is, of the amount of matter per cubic centimeter of bones.|HPO|N|
C2674451|A dislocation of the head of the radius from its socket in the elbow joint in an anterior direction.|HPO|N|
C2674459|A response indicating that a person''s walking ability is limited, significantly less postoperatively.|NCI|N|
C2674512|Tremor of the trunk in an anterior-posterior plane at 3-4 Hz.|HPO|N|
C2674574|Loeys-Dietz syndrome (LDS) is characterized by vascular findings (cerebral, thoracic, and abdominal arterial aneurysms and/or dissections), skeletal manifestations (pectus excavatum or pectus carinatum, scoliosis, joint laxity, arachnodactyly, talipes equinovarus, cervical spine malformation and/or instability), craniofacial features (widely spaced eyes, strabismus, bifid uvula / cleft palate, and craniosynostosis that can involve any sutures), and cutaneous findings (velvety and translucent skin, easy bruising, and dystrophic scars). Individuals with LDS are predisposed to widespread and aggressive arterial aneurysms and pregnancy-related complications including uterine rupture and death. Individuals with LDS can show a strong predisposition for allergic/inflammatory disease including asthma, eczema, and reactions to food or environmental allergens. There is also an increased incidence of gastrointestinal inflammation including eosinophilic esophagitis and gastritis or inflammatory bowel disease. Wide variation in the distribution and severity of clinical features can be seen in individuals with LDS, even among affected individuals within a family who have the same pathogenic variant.|GeneReviews|N|
C2674608|Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention.|HPO|N|
C2674616|A mild form of familial adenomatous polyposis with main features described as the presence of fewer than 100 adenomatous polyposis, a more proximal colonic location, a delayed age of colorectal cancer onset and a more limited expression of the extracolonic features.|SNOMEDCT_US|N|
C2674620|A tendency of teeth to fracture as manifested by a history of repeated fracture of the dental enamel without adequate trauma.|HPO|N|
C2674636|An inherited condition caused by autosomal dominant mutation(s) in the KIT or PDGFRA genes, encoding mast/stem cell growth factor receptor Kit and platelet derived growth factor receptor alpha respectively. The condition is characterized by the occurrence of multiple gastrointestinal stromal tumors (GIST).|NCI|N|
C2674665|Any microvascular complications of diabetes, susceptibility in which the cause of the disease is a mutation in the PON1 gene.|MONDO|N|
C2674684|Dystrophic neurites are abnormal neuronal processes characterized microscopically by aberrant sprouting, dystrophic expansion, and accumulation of various cellular organelles and cytoskeletal/signaling proteins.|HPO|N|
C2674695|Autosomal dominant primary hypertrophic osteoarthropathy (PHOAD) is characterized by 3 major features: digital clubbing, periostosis, and pachydermia. Patients may also experience joint swelling and pain, and some have reported gastrointestinal symptoms, including watery diarrhea. Males are more commonly affected, and more severely affected, than females (Lee et al., 2016; Xu et al., 2021).
Touraine et al. (1935) recognized pachydermoperiostosis (PDP) as a familial disorder with 3 presentations or forms: a complete form with periostosis and pachydermia, an incomplete form without pachydermia, and a forme fruste with pachydermia and minimal skeletal changes.
Genetic Heterogeneity
Autosomal recessive forms of PHO have been reported (see 259100), including PHOAR2E (614441), which is also caused by mutation in the SLCO2A1 gene.|OMIM|N|
C2674705|Multicentric carpotarsal osteolysis syndrome is a rare skeletal disorder, usually presenting in early childhood with a clinical picture mimicking juvenile rheumatoid arthritis. Progressive destruction of the carpal and tarsal bone usually occurs and other bones may also be involved. Chronic renal failure is a frequent component of the syndrome. Mental retardation and minor facial anomalies have been noted in some patients. Autosomal dominant inheritance has been documented in many families (Pai and Macpherson, 1988).
See also Torg-Winchester syndrome (259600), an autosomal recessive multicentric osteolysis syndrome.|OMIM|N|
C2674723|RAS-associated leukoproliferative disorder is characterized by lymphadenopathy, splenomegaly, and variable autoimmune phenomena, including autoimmune hemolytic anemia, idiopathic thrombocytopenic purpura, and neutropenia. Laboratory studies show an expansion of lymphocytes due to defective apoptosis, as well as significant autoantibodies. Some patients have recurrent infections, and there may be an increased risk of hematologic malignancy (summary by Oliveira, 2013 and Niemela et al., 2010).
The disorder shows significant overlap with autoimmune lymphoproliferative syndrome (ALPS; 601859) and was originally designated ALPS IV.|OMIM|N|
C2674737|An anomaly of a finger.|HPO|N|
C2674738|An anomaly of a toe.|HPO|N|
C2674838|Alcohol intolerance is characterized by immediate unpleasant reactions after drinking alcohol. The most common signs and symptoms of alcohol intolerance are stuffy nose and skin flushing. Alcohol intolerance is caused by a genetic condition in which the body is unable to break down alcohol efficiently, usually found in Asians. These individuals accumulate acetaldehyde, the primary metabolite of ethanol, because of a genetic polymorphism of aldehyde dehydrogenase (ALDH) that metabolizes acetaldehyde to nontoxic acetate. The only way to prevent alcohol intolerance reactions is to avoid alcohol. Alcohol intolerance isn't an allergy. However, in some cases, what seems to be alcohol intolerance may be a reaction to something in an alcoholic beverage, such as chemicals, grains or preservatives. Combining alcohol with certain medications also can cause reactions. In rare instances, an unpleasant reaction to alcohol can be a sign of a serious underlying health problem that requires diagnosis and treatment.|MONDO|N|
C2674853|The formation of new bone along the cortex and underneath the periosteum of a bone.|HPO|N|
C2674937|10q26 deletion syndrome is a condition that results from the loss (deletion) of a small piece of chromosome 10 in each cell. The deletion occurs on the long (q) arm of the chromosome at a position designated 10q26.\n\nThe signs and symptoms of 10q26 deletion syndrome vary widely, even among affected members of the same family. Among the more common features associated with this chromosomal change are distinctive facial features, mild to moderate intellectual disability, growth problems, and developmental delay. People with 10q26 deletion syndrome often have delayed development of speech and of motor skills such as sitting, crawling, and walking. Some have limited speech throughout life. Affected individuals may experience seizures, attention-deficit/hyperactivity disorder (ADHD), poor impulse control (impulsivity), or exhibit autistic behaviors that affect communication and social interaction.\n\nA range of facial features is seen in people with 10q26 deletion syndrome, but not all affected individuals have these features. Facial features of people with 10q26 deletion syndrome may include a prominent or beaked nose, a broad nasal bridge, a small jaw (micrognathia), malformed ears that are low set, a thin upper lip, and an unusually small head size (microcephaly). Many affected individuals have widely spaced eyes (hypertelorism) that do not look in the same direction (strabismus). Some people with this condition have a short neck with extra folds of skin (webbed neck).\n\nLess common signs and symptoms can occur in 10q26 deletion syndrome. Skeletal problems include a spine that curves to the side (scoliosis), limited movement in the elbows or other joints, or curved fifth fingers and toes (clinodactyly). Slow growth before and after birth can also occur in affected individuals. Males with this condition may have genital abnormalities, such as a small penis (micropenis), undescended testes (cryptorchidism), or the urethra opening on the underside of the penis (hypospadias). Some people with 10q26 deletion syndrome have kidney abnormalities, heart defects, breathing problems, recurrent infections, or hearing or vision problems.|MedlinePlus Genetics|N|
C2674941|Clopidogrel is a thienopyridine antiplatelet agent that prevents platelet activation and aggregation by irreversibly inhibiting the P2Y12 ADP receptors. As a prodrug, clopidogrel requires hepatic biotransformation to form an active metabolite. This conversion is composed of two sequential oxidative steps, which involve cytochrome P450-2C19 (CYP2C19) and other enzymes. Genetic variants in CYP2C19, along with other genetic and non-genetic factors, are known to influence variability in clopidogrel response. Specific CYP2C19 variants impair formation of active clopidogrel metabolites, which results in reduced platelet inhibition. CYP2C19 intermediate and poor metabolizers who receive clopidogrel experience an increased risk for major adverse cardiovascular and cerebrovascular events. Therapeutic recommendations for clopidogrel based on an individual’s CYP2C19 genotype have been published by the Clinical Pharmacogenetics Implementation Consortium (CPIC) and the 2022 guideline update includes new recommendations for CYP2C19 genotype-guided antiplatelet therapy.|PharmGKB|N|
C2674949|3q29 recurrent deletion is characterized by neurodevelopmental and/or psychiatric manifestations including mild-to-moderate intellectual disability (ID), autism spectrum disorder (ASD), anxiety disorders, attention-deficit/hyperactivity disorder (ADHD), executive function deficits, graphomotor weakness, and psychosis/schizophrenia. Age at onset for psychosis or prodrome can be younger than the typical age at onset in the general population. Neurodevelopmental and psychiatric conditions are responsible for the majority of the disability associated with the 3q29 deletion. Other common findings are failure to thrive and feeding problems in infancy that persist into childhood, gastrointestinal disorders (including constipation and gastroesophageal reflux disease [GERD]), ocular issues, dental anomalies, and congenital heart defects (especially patent ductus arteriosus). Structural anomalies of the posterior fossa may be seen on neuroimaging. To date more than 200 affected individuals have been identified.|GeneReviews|N|
C2675014|Müllerian aplasia and hyperandrogenism is a condition that affects the reproductive system in females. This condition is caused by abnormal development of the Müllerian ducts, which are structures in the embryo that develop into the uterus, fallopian tubes, cervix, and the upper part of the vagina. Individuals with Müllerian aplasia and hyperandrogenism typically have an underdeveloped or absent uterus and may also have abnormalities of other reproductive organs. Women with this condition have normal female external genitalia, and they develop breasts and pubic hair normally at puberty; however, they do not begin menstruation by age 16 (primary amenorrhea) and will likely never have a menstrual period. Affected women are unable to have children (infertile).\n\nWomen with Müllerian aplasia and hyperandrogenism have higher-than-normal levels of male sex hormones called androgens in their blood (hyperandrogenism), which can cause acne and excessive facial hair (facial hirsutism). Kidney abnormalities may be present in some affected individuals.|MedlinePlus Genetics|N|
C2675021|Reduction in the vertical distance between the upper and lower eyelids.|HPO|N|
C2675074|Increase in size of a peripheral nerve. This finding can be appreciated by palpation along the axis of the nerve.|HPO|N|
C2675111|An abnormality of the eyelashes.|HPO|N|
C2675112|Any microvascular complications of diabetes, susceptibility in which the cause of the disease is a mutation in the IL1RN gene.|MONDO|N|
C2675128|Any microvascular complications of diabetes, susceptibility in which the cause of the disease is a mutation in the SOD2 gene.|MONDO|N|
C2675179|The creatine deficiency disorders (CDDs), inborn errors of creatine metabolism and transport, comprise three disorders: the creatine biosynthesis disorders guanidinoacetate methyltransferase (GAMT) deficiency and L-arginine:glycine amidinotransferase (AGAT) deficiency; and creatine transporter (CRTR) deficiency. Developmental delay and cognitive dysfunction or intellectual disability and speech-language disorder are common to all three CDDs. Onset of clinical manifestations of GAMT deficiency (reported in ~130 individuals) is between ages three months and two years; in addition to developmental delays, the majority of individuals have epilepsy and develop a behavior disorder (e.g., hyperactivity, autism, or self-injurious behavior), and about 30% have movement disorder. AGAT deficiency has been reported in 16 individuals; none have had epilepsy or movement disorders. Clinical findings of CRTR deficiency in affected males (reported in ~130 individuals) in addition to developmental delays include epilepsy (variable seizure types and may be intractable) and behavior disorders (e.g., attention deficit and/or hyperactivity, autistic features, impulsivity, social anxiety), hypotonia, and (less commonly) a movement disorder. Poor weight gain with constipation and prolonged QTc on EKG have been reported. While mild-to-moderate intellectual disability is commonly observed up to age four years, the majority of adult males with CRTR deficiency have been reported to have severe intellectual disability. Females heterozygous for CRTR deficiency are typically either asymptomatic or have mild intellectual disability, although a more severe phenotype resembling the male phenotype has been reported.|GeneReviews|N|
C2675180|Myopia, or nearsightedness, is a refractive error of the eye. Light rays from a distant object are focused in front of the retina and those from a near object are focused in the retina; therefore distant objects are blurry and near objects are clear (summary by Kaiser et al., 2004).
For a discussion of genetic heterogeneity of susceptibility to myopia, see 160700.|OMIM|N|
C2675183|Dyschromatosis universalis hereditaria (DUH) is a rare autosomal dominant genodermatosis characterized by irregularly shaped, asymptomatic hyper- and hypopigmented macules that appear in infancy or early childhood and occur in a generalized distribution over the trunk, limbs, and sometimes the face. Involvement of the palms or soles is unusual. Abnormalities of hair and nails have been reported, and DUH may be associated with abnormalities of dermal connective tissue, nerve tissue, or other systemic complications (summary by Zhang et al., 2013).
For a discussion of genetic heterogeneity of dyschromatosis universalis hereditaria, see DUH1 (127500).|OMIM|N|
C2675184|This syndrome is characterized by exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis. It has been described in four children, three boys and one girl, from two consanguineous families. The disease is due to a mutation in the COX4I2 gene, encoding a mitochondrial cytochrome C oxidase sub-unit. Transmission is autosomal recessive.|SNOMEDCT_US|N|
C2675185|Kahrizi syndrome is an autosomal recessive neurodevelopmental disorder characterized by mental retardation, cataracts, coloboma, kyphosis, and coarse facial features (summary by Kahrizi et al., 2009).
See also congenital disorder of glycosylation type Iq (CDG1Q; 612379), an allelic disorder with overlapping features.|OMIM|N|
C2675186|Leber congenital amaurosis, also known as LCA, is an eye disorder that is present from birth (congenital). This condition primarily affects the retina, which is the specialized tissue at the back of the eye that detects light and color. People with this disorder typically have severe visual impairment beginning at birth or shortly afterward. The visual impairment tends to be severe and may worsen over time.\n\nLeber congenital amaurosis is also associated with other vision problems, including an increased sensitivity to light (photophobia), involuntary movements of the eyes (nystagmus), and extreme farsightedness (hyperopia). The pupils, which usually expand and contract in response to the amount of light entering the eye, do not react normally to light. Instead, they expand and contract more slowly than normal, or they may not respond to light at all.\n\nA specific behavior called Franceschetti's oculo-digital sign is characteristic of Leber congenital amaurosis. This sign consists of affected individuals poking, pressing, and rubbing their eyes with a knuckle or finger. Poking their eyes often results in the sensation of flashes of light called phosphenes. Researchers suspect that this behavior may contribute to deep-set eyes in affected children.\n\nAt least 20 genetic types of Leber congenital amaurosis have been described. The types are distinguished by their genetic cause, patterns of vision loss, and related eye abnormalities.\n\nIn very rare cases, delayed development and intellectual disability have been reported in people with the features of Leber congenital amaurosis. Because of the visual loss, affected children may become isolated. Providing children with opportunities to play, hear, touch, understand and other early educational interventions may prevent developmental delays in children with Leber congenital amaurosis.|MedlinePlus Genetics|N|
C2675187|Autosomal recessive primary microcephaly (often shortened to MCPH, which stands for "microcephaly primary hereditary") is a condition in which infants are born with a very small head and a small brain. The term "microcephaly" comes from the Greek words for "small head."\n\nInfants with MCPH have an unusually small head circumference compared to other infants of the same sex and age. Head circumference is the distance around the widest part of the head, measured by placing a measuring tape above the eyebrows and ears and around the back of the head. Affected infants' brain volume is also smaller than usual, although they usually do not have any major abnormalities in the structure of the brain. The head and brain grow throughout childhood and adolescence, but they continue to be much smaller than normal.\n\nMCPH causes intellectual disability, which is typically mild to moderate and does not become more severe with age. Most affected individuals have delayed speech and language skills. Motor skills, such as sitting, standing, and walking, may also be mildly delayed.\n\nPeople with MCPH usually have few or no other features associated with the condition. Some have a narrow, sloping forehead; mild seizures; problems with attention or behavior; or short stature compared to others in their family. The condition typically does not affect any other major organ systems or cause other health problems.|MedlinePlus Genetics|N|
C2675192|EPB42-related hereditary spherocytosis (EPB42-HS) is a chronic nonimmune hemolytic anemia that is usually of mild-to-moderate severity. EPB42-HS can present with jaundice as early as the first 24 hours of life or can present later in childhood with anemia resulting from a hemolytic crisis or aplastic crisis (usually associated with a viral infection). In addition to the hematologic manifestations, serious complications include splenomegaly, which can become evident in early childhood, and cholelithiasis, which usually becomes evident in the second or third decade of life. Typical laboratory findings in EPB42-HS include anemia (decreased hemoglobin [Hgb] level) and reticulocytosis (increased percentage of reticulocytes), with high mean corpuscular Hgb concentration, presence of spherocytes in the peripheral blood smear, significantly decreased or absent haptoglobin, mildly increased osmotic fragility in osmotic fragility assay, increased Omin (osmolality at which 50% of red blood cells hemolyze), and decreased maximal elongation index (EImax) in osmotic gradient ektacytometry.|GeneReviews|N|
C2675204|Fiskerstrand type peripheral neuropathy is a slowly-progressive Refsum-like disorder associating signs of peripheral neuropathy with late-onset hearing loss, cataract and pigmentary retinopathy that become evident during the third decade of life.|ORDO|N|
C2675210|Cone-rod dystrophy is a group of related eye disorders that causes vision loss, which becomes more severe over time. These disorders affect the retina, which is the layer of light-sensitive tissue at the back of the eye. In people with cone-rod dystrophy, vision loss occurs as the light-sensing cells of the retina gradually deteriorate.\n\nThere are more than 30 types of cone-rod dystrophy, which are distinguished by their genetic cause and their pattern of inheritance: autosomal recessive, autosomal dominant, and X-linked. Additionally, cone-rod dystrophy can occur alone without any other signs and symptoms or it can occur as part of a syndrome that affects multiple parts of the body.\n\nThe first signs and symptoms of cone-rod dystrophy, which often occur in childhood, are usually decreased sharpness of vision (visual acuity) and increased sensitivity to light (photophobia). These features are typically followed by impaired color vision (dyschromatopsia), blind spots (scotomas) in the center of the visual field, and partial side (peripheral) vision loss. Over time, affected individuals develop night blindness and a worsening of their peripheral vision, which can limit independent mobility. Decreasing visual acuity makes reading increasingly difficult and most affected individuals are legally blind by mid-adulthood. As the condition progresses, individuals may develop involuntary eye movements (nystagmus).|MedlinePlus Genetics|N|
C2675211|An exceedingly rare form of hereditary episodic ataxia with varying degrees of ataxia and associated findings including slurred speech, headache, confusion and hemiplegia.|SNOMEDCT_US|N|
C2675212|People with the mild form may have very mild anemia or sometimes have no symptoms. People with the moderate form typically have anemia, jaundice, and splenomegaly. Many also develop gallstones. The signs and symptoms of moderate hereditary spherocytosis usually appear in childhood. Individuals with the moderate/severe form have all the features of the moderate form but also have severe anemia. Those with the severe form have life-threatening anemia that requires frequent blood transfusions  to replenish their red blood cell supply. They also have severe splenomegaly, jaundice, and a high risk for developing gallstones. Some individuals with the severe form have short stature, delayed sexual development, and skeletal abnormalities.\n\nThere are four forms of hereditary spherocytosis, which are distinguished by the severity of signs and symptoms. They are known as the mild form, the moderate form, the moderate/severe form, and the severe form. It is estimated that 20 to 30 percent of people with hereditary spherocytosis have the mild form, 60 to 70 percent have the moderate form, 10 percent have the moderate/severe form, and 3 to 5 percent have the severe form.\n\nHereditary spherocytosis is a condition that affects red blood cells. People with this condition typically experience a shortage of red blood cells (anemia), yellowing of the eyes and skin (jaundice), and an enlarged spleen (splenomegaly). Most newborns with hereditary spherocytosis have severe anemia, although it improves after the first year of life. Splenomegaly can occur anytime from early childhood to adulthood. About half of affected individuals develop hard deposits in the gallbladder called gallstones, which typically occur from late childhood to mid-adulthood.|MedlinePlus Genetics|N|
C2675227|Endocrine-cerebro-osteodysplasia (ECO) syndrome is characterized by various anomalies of the endocrine, cerebral, and skeletal systems resulting in neonatal mortality.|ORDO|N|
C2675228|Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). The signs and symptoms of this condition are caused by abnormal cilia and flagella. Cilia are microscopic, finger-like projections that stick out from the surface of cells. They are found in the linings of the airway, the reproductive system, and other organs and tissues. Flagella are tail-like structures, similar to cilia, that propel sperm cells forward.\n\nIn the respiratory tract, cilia move back and forth in a coordinated way to move mucus towards the throat. This movement of mucus helps to eliminate fluid, bacteria, and particles from the lungs. Most babies with primary ciliary dyskinesia experience breathing problems at birth, which suggests that cilia play an important role in clearing fetal fluid from the lungs. Beginning in early childhood, affected individuals develop frequent respiratory tract infections. Without properly functioning cilia in the airway, bacteria remain in the respiratory tract and cause infection. People with primary ciliary dyskinesia also have year-round nasal congestion and a chronic cough. Chronic respiratory tract infections can result in a condition called bronchiectasis, which damages the passages, called bronchi, leading from the windpipe to the lungs and can cause life-threatening breathing problems.\n\nSome individuals with primary ciliary dyskinesia have abnormally placed organs within their chest and abdomen. These abnormalities arise early in embryonic development when the differences between the left and right sides of the body are established. About 50 percent of people with primary ciliary dyskinesia have a mirror-image reversal of their internal organs (situs inversus totalis). For example, in these individuals the heart is on the right side of the body instead of on the left. Situs inversus totalis does not cause any apparent health problems. When someone with primary ciliary dyskinesia has situs inversus totalis, they are often said to have Kartagener syndrome.\n\nApproximately 12 percent of people with primary ciliary dyskinesia have a condition known as heterotaxy syndrome or situs ambiguus, which is characterized by abnormalities of the heart, liver, intestines, or spleen. These organs may be structurally abnormal or improperly positioned. In addition, affected individuals may lack a spleen (asplenia) or have multiple spleens (polysplenia). Heterotaxy syndrome results from problems establishing the left and right sides of the body during embryonic development. The severity of heterotaxy varies widely among affected individuals.\n\nPrimary ciliary dyskinesia can also lead to infertility. Vigorous movements of the flagella are necessary to propel the sperm cells forward to the female egg cell. Because their sperm do not move properly, males with primary ciliary dyskinesia are usually unable to father children. Infertility occurs in some affected females and is likely due to abnormal cilia in the fallopian tubes.\n\nAnother feature of primary ciliary dyskinesia is recurrent ear infections (otitis media), especially in young children. Otitis media can lead to permanent hearing loss if untreated. The ear infections are likely related to abnormal cilia within the inner ear.\n\nRarely, individuals with primary ciliary dyskinesia have an accumulation of fluid in the brain (hydrocephalus), likely due to abnormal cilia in the brain.|MedlinePlus Genetics|N|
C2675229|Rarely, individuals with primary ciliary dyskinesia have an accumulation of fluid in the brain (hydrocephalus), likely due to abnormal cilia in the brain.\n\nAnother feature of primary ciliary dyskinesia is recurrent ear infections (otitis media), especially in young children. Otitis media can lead to permanent hearing loss if untreated. The ear infections are likely related to abnormal cilia within the inner ear.\n\nPrimary ciliary dyskinesia can also lead to infertility. Vigorous movements of the flagella are necessary to propel the sperm cells forward to the female egg cell. Because their sperm do not move properly, males with primary ciliary dyskinesia are usually unable to father children. Infertility occurs in some affected females and is likely due to abnormal cilia in the fallopian tubes.\n\nApproximately 12 percent of people with primary ciliary dyskinesia have a condition known as heterotaxy syndrome or situs ambiguus, which is characterized by abnormalities of the heart, liver, intestines, or spleen. These organs may be structurally abnormal or improperly positioned. In addition, affected individuals may lack a spleen (asplenia) or have multiple spleens (polysplenia). Heterotaxy syndrome results from problems establishing the left and right sides of the body during embryonic development. The severity of heterotaxy varies widely among affected individuals.\n\nSome individuals with primary ciliary dyskinesia have abnormally placed organs within their chest and abdomen. These abnormalities arise early in embryonic development when the differences between the left and right sides of the body are established. About 50 percent of people with primary ciliary dyskinesia have a mirror-image reversal of their internal organs (situs inversus totalis). For example, in these individuals the heart is on the right side of the body instead of on the left. Situs inversus totalis does not cause any apparent health problems. When someone with primary ciliary dyskinesia has situs inversus totalis, they are often said to have Kartagener syndrome.\n\nIn the respiratory tract, cilia move back and forth in a coordinated way to move mucus towards the throat. This movement of mucus helps to eliminate fluid, bacteria, and particles from the lungs. Most babies with primary ciliary dyskinesia experience breathing problems at birth, which suggests that cilia play an important role in clearing fetal fluid from the lungs. Beginning in early childhood, affected individuals develop frequent respiratory tract infections. Without properly functioning cilia in the airway, bacteria remain in the respiratory tract and cause infection. People with primary ciliary dyskinesia also have year-round nasal congestion and a chronic cough. Chronic respiratory tract infections can result in a condition called bronchiectasis, which damages the passages, called bronchi, leading from the windpipe to the lungs and can cause life-threatening breathing problems.\n\nPrimary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). The signs and symptoms of this condition are caused by abnormal cilia and flagella. Cilia are microscopic, finger-like projections that stick out from the surface of cells. They are found in the linings of the airway, the reproductive system, and other organs and tissues. Flagella are tail-like structures, similar to cilia, that propel sperm cells forward.|MedlinePlus Genetics|N|
C2675235|Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the GJB6 gene.|MONDO|N|
C2675236|Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the GJB3 gene.|MONDO|N|
C2675237|Nonsyndromic hearing loss and deafness, DFNA3 is characterized by pre- or postlingual mild-to-profound progressive high-frequency sensorineural hearing impairment. Affected individuals have no other associated medical findings.|GeneReviews|N|
C2675238|An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 11p14.2-q12.3.|MONDO|N|
C2675249|An inflammatory bowel disease that has material basis in variation in the chromosome region 12q15.|MONDO|N|
C2675336|Maternal 15q duplication syndrome (maternal dup15q) is characterized by hypotonia and motor delays, intellectual disability, autism spectrum disorder (ASD), and epilepsy including infantile spasms. Rarely, maternal dup15q may also be associated with psychosis or sudden unexplained death. Those with a maternal isodicentric 15q11.2-q13.1 supernumerary chromosome are typically more severely affected than those with an interstitial duplication.|GeneReviews|N|
C2675369|22q11.2 duplication is a condition caused by an extra copy of a small piece of chromosome 22. The duplication occurs near the middle of the chromosome at a location designated q11.2.\n\nThe features of this condition vary widely, even among members of the same family. Affected individuals may have developmental delay, intellectual disability, slow growth leading to short stature, and weak muscle tone (hypotonia). Many people with the duplication have no apparent physical or intellectual disabilities.|MedlinePlus Genetics|N|
C2675458|Usher syndrome type I (USH1) is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa (RP). Unless fitted with a cochlear implant, individuals do not typically develop speech. RP, a progressive, bilateral, symmetric degeneration of rod and cone functions of the retina, develops in adolescence, resulting in progressively constricted visual fields and impaired visual acuity.|GeneReviews|N|
C2675459|A rare hemolytic anemia due to an erythrocyte nucleotide metabolism disorder characterized by moderate to severe chronic nonspherocytic hemolytic anemia that may require regular blood transfusions and/or splenectomy and may be associated with psychomotor impairment.|SNOMEDCT_US|N|
C2675463|Distal monosomy 15q is a rare chromosomal anomaly syndrome characterized by pre- and postnatal growth restriction, developmental delay, variable degrees of intellectual disability, hand and foot anomalies (e.g. brachy-/clinodactyly, talipes equinovarus, nail hypoplasia, proximally placed digits) and mild craniofacial dysmorphism (incl. microcephaly, triangular face, broad nasal bridge, micrognathia). Neonatal lymphedema, heart malformations, aplasia cutis congenita, aortic root dilatation, and autistic spectrum disorder have also been reported.|ORDO|N|
C2675470|Any microvascular complications of diabetes, susceptibility in which the cause of the disease is a mutation in the ACE gene.|MONDO|N|
C2675471|Any microvascular complications of diabetes, susceptibility in which the cause of the disease is a mutation in the EPO gene.|MONDO|N|
C2675472|An inherited susceptibility or predisposition to developing type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 4q27.|MONDO|N|
C2675473|SYNGAP1-related intellectual disability (SYNGAP1-ID) is characterized by developmental delay (DD) or intellectual disability (ID) (100% of affected individuals), generalized epilepsy (~84%), and autism spectrum disorder (ASD) and other behavioral abnormalities (=50%). To date more than 50 individuals with SYNGAP1-ID have been reported. In the majority DD/ID was moderate to severe; in some it was mild. The epilepsy is generalized; a subset of individuals with epilepsy have myoclonic astatic epilepsy (Doose syndrome) or epilepsy with myoclonic absences. Behavioral abnormalities can include stereotypic behaviors (e.g., hand flapping, obsessions with certain objects) as well as poor social development. Feeding difficulties can be significant in some.|GeneReviews|N|
C2675477|Multiple sclerosis-3 (MS3) is a chronic inflammatory disease of the central nervous system (CNS) characterized by multifocal demyelination (summary by Kallio et al., 2009).
For a discussion of genetic heterogeneity of multiple sclerosis, see MS1 (126200).|OMIM|N|
C2675481|Any colorectal cancer in which the cause of the disease is a mutation in the POLD1 gene.|MONDO|N|
C2675484|Rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death. Several risk factors such as smoking, hypertension, and excessive alcohol intake are associated with subarachnoid hemorrhage (summary by Krischek and Inoue, 2006).
For a discussion of genetic heterogeneity of intracranial berry aneurysms, see ANIB1 (105800).|OMIM|N|
C2675485|Rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death. Several risk factors such as smoking, hypertension, and excessive alcohol intake are associated with subarachnoid hemorrhage (summary by Krischek and Inoue, 2006).
For a discussion of genetic heterogeneity of intracranial berry aneurysms, see ANIB1 (105800).|OMIM|N|
C2675486|Distal monosomy 6p is responsible for a distinct chromosome deletion syndrome with a recognizable clinical picture including intellectual deficit, ocular abnormalities, hearing loss, and facial dysmorphism.|ORDO|N|
C2675487|Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the KIRREL3 gene.|MONDO|N|
C2675488|Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the CDH15 gene.|MONDO|N|
C2675491|An autosomal dominant form of amyotrophic lateral sclerosis caused by mutation(s) in the FIG4 gene, encoding polyphosphoinositide phosphatase.|NCI|N|
C2675496|Retinitis pigmentosa-46 (RP46) is characterized by night blindness, loss of peripheral vision, and reduced visual acuity. Funduscopic findings are typical of RP, including pale optic discs, attenuated retinal vessels, and intraretinal pigment deposits. Electroretinography shows substantial loss of rod and cone photoreceptor function (Hartong et al., 2008).
For a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000.|OMIM|N|
C2675508|Any inflammatory bowel disease in which the cause of the disease is a mutation in the IL10RB gene.|MONDO|N|
C2675509|An inflammatory bowel disease that has material basis in variation in the chromosome 20q13.|MONDO|N|
C2675511|Diamond-Blackfan anemia (DBA) is characterized by a profound normochromic and usually macrocytic anemia with normal leukocytes and platelets, congenital malformations in up to 50%, and growth deficiency in 30% of affected individuals. The hematologic complications occur in 90% of affected individuals during the first year of life. The phenotypic spectrum ranges from a mild form (e.g., mild anemia or no anemia with only subtle erythroid abnormalities, physical malformations without anemia) to a severe form of fetal anemia resulting in nonimmune hydrops fetalis. DBA is associated with an increased risk for acute myelogenous leukemia (AML), myelodysplastic syndrome (MDS), and solid tumors including osteogenic sarcoma.|GeneReviews|N|
C2675512|Diamond-Blackfan anemia (DBA) is characterized by a profound normochromic and usually macrocytic anemia with normal leukocytes and platelets, congenital malformations in up to 50%, and growth deficiency in 30% of affected individuals. The hematologic complications occur in 90% of affected individuals during the first year of life. The phenotypic spectrum ranges from a mild form (e.g., mild anemia or no anemia with only subtle erythroid abnormalities, physical malformations without anemia) to a severe form of fetal anemia resulting in nonimmune hydrops fetalis. DBA is associated with an increased risk for acute myelogenous leukemia (AML), myelodysplastic syndrome (MDS), and solid tumors including osteogenic sarcoma.|GeneReviews|N|
C2675517|Adiponectin is an adipocyte-derived hormone that exerts pleiotropic effects that promote insulin sensitivity, inhibit cell death, and decrease inflammation. Adiponectin forms an obligate trimer and circulates as trimers, hexamers, and high molecular weight multimers that target multiple tissues and cell types including liver, kidney, cardiac myocytes, and pancreatic beta cells. Levels of adiponectin are decreased in obesity and may lead to insulin resistance, type 2 diabetes, myocardial infarction, nonalcoholic steatohepatitis, and kidney disease. The antiapoptotic, insulin-sensitizing, antiinflammatory, and antisteatotic effects have been linked to its role in sphingolipid metabolism and its receptor-mediated activation of ceramidase activity which reduces levels of lipotoxic ceramides (summary by Simeone et al., 2022).
Genetic Heterogeneity of Quantitative Trait Loci for Serum Level of Adiponectin
Additional quantitative trait loci for serum level of adiponectin have been mapped to chromosome 5 (ADIPQTL2; 606770), chromosome 14 (ADIPQTL3; 606771), chromosome 11 (ADIPQTL4; 612629), and chromosome 16q (ADIPQTL5; 613836).|OMIM|N|
C2675520|BRCA1- and BRCA2-associated hereditary breast and ovarian cancer (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (including fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. The risk of developing an associated cancer varies depending on whether HBOC is caused by a BRCA1 or BRCA2 pathogenic variant.|GeneReviews|N|
C2675523|Myopia, or nearsightedness, is a refractive error of the eye. Light rays from a distant object are focused in front of the retina and those from a near object are focused in the retina; therefore distant objects are blurry and near objects are clear (summary by Kaiser et al., 2004).
For a discussion of genetic heterogeneity of susceptibility to myopia, see 160700.|OMIM|N|
C2675525|Focal segmental glomerulosclerosis (FSGS) is a pathologic entity associated clinically with proteinuria, the nephrotic syndrome (NPHS), and progressive loss of renal function. It is a common cause of end-stage renal disease (ESRD) (Meyrier, 2005).
For a general phenotypic description and a discussion of genetic heterogeneity of focal segmental glomerulosclerosis and nephrotic syndrome, see FSGS1 (603278).|OMIM|N|
C2675527|Congenital myopathy-12 (CMYP12) is an autosomal recessive disorder characterized by severe neonatal hypotonia resulting in feeding difficulties and respiratory failure within the first months of life. There is evidence of the disorder in utero, with decreased fetal movements and polyhydramnios. Additional features may include high-arched palate and contractures. Skeletal muscle biopsy shows myopathic changes with disrupted sarcomeres and minicore-like structures (Compton et al., 2008).
For a discussion of genetic heterogeneity of congenital myopathy, see CMYP1A (117000).|OMIM|N|
C2675528|A pure form of hereditary spastic paraplegia with characteristics of slowly progressive spastic paraplegia of lower extremities with an age of onset ranging from childhood to adulthood and patients presenting with spastic gait, increased tendon reflexes in lower limbs, extensor plantar response, weakness and atrophy of lower limb muscles and, in rare cases, pes cavus. No abnormalities are noted on magnetic resonance imaging.|SNOMEDCT_US|N|
C2675547|Reduced diameter of a long bone with a more pronounced reduction of the diameter of the diaphysis of the long bones.|HPO|N|
C2675556|Acute necrotizing encephalopathy type 1, also known as susceptibility to infection-induced acute encephalopathy 3 or IIAE3, is a rare type of brain disease (encephalopathy) that occurs following a viral infection such as the flu.\n\nAcute necrotizing encephalopathy type 1 typically appears in infancy or early childhood, although some people do not develop the condition until adolescence or adulthood. People with this condition usually show typical symptoms of an infection, such as fever, cough, congestion, vomiting, and diarrhea, for a few days. Following these flu-like symptoms, affected individuals develop neurological problems, such as seizures, hallucinations, difficulty coordinating movements (ataxia), or abnormal muscle tone. Eventually, most affected individuals go into a coma, which usually lasts for a number of weeks. The condition is described as "acute" because the episodes of illness are time-limited.\n\nPeople with acute necrotizing encephalopathy type 1 develop areas of damage (lesions) in certain regions of the brain. As the condition progresses, these brain regions develop swelling (edema), bleeding (hemorrhage), and then tissue death (necrosis). The progressive brain damage and tissue loss results in encephalopathy.\n\nApproximately one-third of individuals with acute necrotizing encephalopathy type 1 do not survive their illness and subsequent neurological decline. Of those who do survive, about half have permanent brain damage due to tissue necrosis, resulting in impairments in walking, speech, and other basic functions. Over time, many of these skills may be regained, but the loss of brain tissue is permanent. Other individuals who survive their illness appear to recover completely.\n\nIt is estimated that half of individuals with acute necrotizing encephalopathy type 1 are susceptible to recurrent episodes and will have another infection that results in neurological decline; some people may have numerous episodes throughout their lives. Neurological function worsens following each episode as more brain tissue is damaged.|MedlinePlus Genetics|N|
C2675558|Presence of persistent islands of renal blastema in the postnatal kidney. Nephroblastomatosis represents a complex abnormality of nephrogenesis and has been defined as the persistence of metanephricblastema into infancy and childhood.|HPO|N|
C2675562|Lack of ossification of the sacrum.|HPO|N|
C2675590|Absence of globe, optic nerve, chiasm and optic tracts. No evidence of ocular tissue on MRI scan or examination.|HPO|N|
C2675609|Any osteoarthritis in which the cause of the disease is a mutation in the ASPN gene.|MONDO|N|
C2675627|Clay colored stools lacking bile pigment.|HPO|N|
C2675646|Niemann-Pick disease is a condition that affects many body systems. It has a wide range of symptoms that vary in severity. Niemann-Pick disease is divided into four main types: type A, type B, type C1, and type C2. These types are classified on the basis of genetic cause and the signs and symptoms of the condition.\n\nInfants with Niemann-Pick disease type A usually develop an enlarged liver and spleen (hepatosplenomegaly) by age 3 months and fail to gain weight and grow at the expected rate (failure to thrive). The affected children develop normally until around age 1 year when they experience a progressive loss of mental abilities and movement (psychomotor regression). Children with Niemann-Pick disease type A also develop widespread lung damage (interstitial lung disease) that can cause recurrent lung infections and eventually lead to respiratory failure. All affected children have an eye abnormality called a cherry-red spot, which can be identified with an eye examination. Children with Niemann-Pick disease type A generally do not survive past early childhood.\n\nThe signs and symptoms of Niemann-Pick disease types C1 and C2 are very similar; these types differ only in their genetic cause. Niemann-Pick disease types C1 and C2 usually become apparent in childhood, although signs and symptoms can develop at any time. People with these types usually develop difficulty coordinating movements (ataxia), an inability to move the eyes vertically (vertical supranuclear gaze palsy), poor muscle tone (dystonia), severe liver disease, and interstitial lung disease. Individuals with Niemann-Pick disease types C1 and C2 have problems with speech and swallowing that worsen over time, eventually interfering with feeding. Affected individuals often experience progressive decline in intellectual function and about one-third have seizures. People with these types may survive into adulthood.\n\nNiemann-Pick disease type B usually presents in mid-childhood. The signs and symptoms of this type are similar to type A, but not as severe. People with Niemann-Pick disease type B often have hepatosplenomegaly, recurrent lung infections, and a low number of platelets in the blood (thrombocytopenia). They also have short stature and slowed mineralization of bone (delayed bone age). About one-third of affected individuals have the cherry-red spot eye abnormality or neurological impairment. People with Niemann-Pick disease type B usually survive into adulthood.|MedlinePlus Genetics|N|
C2675711|Dyschromatosis universalis hereditaria (DUH) is a rare autosomal dominant genodermatosis characterized by irregularly shaped, asymptomatic hyper- and hypopigmented macules that appear in infancy or early childhood and occur in a generalized distribution over the trunk, limbs, and sometimes the face. Involvement of the palms or soles is unusual. Abnormalities of hair and nails have been reported, and DUH may be associated with abnormalities of dermal connective tissue, nerve tissue, or other systemic complications (summary by Zhang et al., 2013).
The autosomal dominant SASH1-associated DUH1 phenotype is characterized by generalized lentigines accompanied by mottled hyper- and hypopigmentation (Zhang et al., 2017).
DUH is distinct from dyschromatosis symmetrica hereditaria (DSH; 127400), which also occurs particularly in Japanese and Korean individuals, but shows a characteristic mixture of hyper- and hypopigmented macules limited largely to the dorsal aspects of the hands and feet (Suenaga, 1952). Gao et al. (2005) noted that lesions associated with DUH appear within the first year of life predominantly on the trunk, whereas the age of onset of DSH is approximately 6 years and lesions appear predominantly on the extremities.
Genetic Heterogeneity of Dyschromatosis Universalis Hereditaria
Dyschromatosis universalis hereditaria-2 (DUH2; 612715) maps to chromosome 12q21-q23. DUH3 (615402) is caused by mutation in the ABCB6 gene (605452) on chromosome 2q35.|OMIM|N|
C2675730|The DDOD syndrome is characterized by autosomal dominant inheritance of congenital deafness and onychodystrophy. Conical, hypoplastic teeth is also a feature (Robinson et al., 1962).
See also DOOR syndrome (220500), an autosomal recessive disorder, which includes congenital deafness, onychodystrophy, osteodystrophy, and mental retardation.|OMIM|N|
C2675746|Craniodiaphyseal dysplasia (CDD) is a severe bone dysplasia characterized by massive generalized hyperostosis and sclerosis, especially involving the skull and facial bones. Progressive bony encroachment upon cranial foramina leads to severe neurologic impairment in childhood (summary by Brueton and Winter, 1990). The sclerosis is so severe that the resulting facial distortion is referred to as 'leontiasis ossea' (leonine facies), and the bone deposition results in progressive stenosis of craniofacial foramina (summary by Kim et al., 2011).|OMIM|N|
C2675750|Nonsyndromic hearing loss and deafness, DFNA3 is characterized by pre- or postlingual mild-to-profound progressive high-frequency sensorineural hearing impairment. Affected individuals have no other associated medical findings.|GeneReviews|N|
C2675767|Autosomal dominant multiple epiphyseal dysplasia (MED) presents in early childhood, usually with pain in the hips and/or knees after exercise. Affected children complain of fatigue with long-distance walking. Waddling gait may be present. Adult height is either in the lower range of normal or mildly shortened. The limbs are relatively short in comparison to the trunk. Pain and joint deformity progress, resulting in early-onset osteoarthritis, particularly of the large weight-bearing joints.|GeneReviews|N|
C2675857|1q41q42 microdeletion syndrome is a chromosomal anomaly characterized by a severe developmental delay and/or intellectual disability, typical facial dysmorphic features, brain anomalies, seizures, cleft palate, clubfeet, nail hypoplasia and congenital heart disease.|ORDO|N|
C2675858|Autosomal recessive amelogenesis imperfecta pigmented hypomaturation type is characterized by enamel of normal thickness that is hypomineralized and has a mottled appearance. The slightly soft enamel detaches easily from the dentin, and radiographs show a lack of contrast between enamel and dentin (Witkop, 1988).|OMIM|N|
C2675859|Diamond-Blackfan anemia (DBA) is characterized by a profound normochromic and usually macrocytic anemia with normal leukocytes and platelets, congenital malformations in up to 50%, and growth deficiency in 30% of affected individuals. The hematologic complications occur in 90% of affected individuals during the first year of life. The phenotypic spectrum ranges from a mild form (e.g., mild anemia or no anemia with only subtle erythroid abnormalities, physical malformations without anemia) to a severe form of fetal anemia resulting in nonimmune hydrops fetalis. DBA is associated with an increased risk for acute myelogenous leukemia (AML), myelodysplastic syndrome (MDS), and solid tumors including osteogenic sarcoma.|GeneReviews|N|
C2675860|Diamond-Blackfan anemia (DBA) is characterized by a profound normochromic and usually macrocytic anemia with normal leukocytes and platelets, congenital malformations in up to 50%, and growth deficiency in 30% of affected individuals. The hematologic complications occur in 90% of affected individuals during the first year of life. The phenotypic spectrum ranges from a mild form (e.g., mild anemia or no anemia with only subtle erythroid abnormalities, physical malformations without anemia) to a severe form of fetal anemia resulting in nonimmune hydrops fetalis. DBA is associated with an increased risk for acute myelogenous leukemia (AML), myelodysplastic syndrome (MDS), and solid tumors including osteogenic sarcoma.|GeneReviews|N|
C2675861|Congenital generalized lipodystrophy, also known as Berardinelli-Seip syndrome, is an autosomal recessive disorder characterized by marked paucity of adipose tissue, extreme insulin resistance, hypertriglyceridemia, hepatic steatosis, and early onset of diabetes (Garg, 2004).
For a general description and a discussion of genetic heterogeneity of congenital generalized lipodystrophy, see CGL1 (608594).|OMIM|N|
C2675864|Over many years, the chronic high blood glucose associated with diabetes may cause damage to blood vessels and nerves, leading to complications affecting many organs and tissues. The retina, which is the light-sensitive tissue at the back of the eye, can be damaged (diabetic retinopathy), leading to vision loss and eventual blindness. Kidney damage (diabetic nephropathy) may also occur and can lead to kidney failure and end-stage renal disease (ESRD). Pain, tingling, and loss of normal sensation (diabetic neuropathy) often occur, especially in the feet. Impaired circulation and absence of the normal sensations that prompt reaction to injury can result in permanent damage to the feet; in severe cases, the damage can lead to amputation. People with type 1 diabetes are also at increased risk of heart attacks, strokes, and problems with urinary and sexual function.\n\nUncontrolled type 1 diabetes can lead to a life-threatening complication called diabetic ketoacidosis. Without insulin, cells cannot take in glucose. A lack of glucose in cells prompts the liver to try to compensate by releasing more glucose into the blood, and blood glucose can become extremely high. The cells, unable to use the glucose in the blood for energy, respond by using fats instead. Breaking down fats to obtain energy produces waste products called ketones, which can build up to toxic levels in people with type 1 diabetes, resulting in diabetic ketoacidosis. Affected individuals may begin breathing rapidly; develop a fruity odor in the breath; and experience nausea, vomiting, facial flushing, stomach pain, and dryness of the mouth (xerostomia). In severe cases, diabetic ketoacidosis can lead to coma and death.\n\nType 1 diabetes can occur at any age, from early childhood to late adulthood. The first signs and symptoms of the disorder are caused by high blood glucose and may include frequent urination (polyuria), excessive thirst (polydipsia), fatigue, blurred vision, tingling or loss of feeling in the hands and feet, and weight loss. These symptoms may recur during the course of the disorder if blood glucose is not well controlled by insulin replacement therapy. Improper control can also cause blood glucose levels to become too low (hypoglycemia). This may occur when the body's needs change, such as during exercise or if eating is delayed. Hypoglycemia can cause headache, dizziness, hunger, shaking, sweating, weakness, and agitation.\n\nType 1 diabetes is a disorder characterized by abnormally high levels of blood glucose, also called blood sugar. In this form of diabetes, specialized cells in the pancreas called beta cells stop producing insulin. Insulin controls how much glucose (a type of sugar) is passed from the blood into cells for conversion to energy. Lack of insulin results in the inability to use glucose for energy or to control the amount of glucose in the blood.|MedlinePlus Genetics|N|
C2675865|An inherited susceptibility or predisposition to developing type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 6q25.|MONDO|N|
C2675866|An inherited susceptibility or predisposition to developing type 1 diabetes mellitus in which the cause of the disease is a mutation in the HNF1A gene.|MONDO|N|
C2675867|Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). The signs and symptoms of this condition are caused by abnormal cilia and flagella. Cilia are microscopic, finger-like projections that stick out from the surface of cells. They are found in the linings of the airway, the reproductive system, and other organs and tissues. Flagella are tail-like structures, similar to cilia, that propel sperm cells forward.\n\nIn the respiratory tract, cilia move back and forth in a coordinated way to move mucus towards the throat. This movement of mucus helps to eliminate fluid, bacteria, and particles from the lungs. Most babies with primary ciliary dyskinesia experience breathing problems at birth, which suggests that cilia play an important role in clearing fetal fluid from the lungs. Beginning in early childhood, affected individuals develop frequent respiratory tract infections. Without properly functioning cilia in the airway, bacteria remain in the respiratory tract and cause infection. People with primary ciliary dyskinesia also have year-round nasal congestion and a chronic cough. Chronic respiratory tract infections can result in a condition called bronchiectasis, which damages the passages, called bronchi, leading from the windpipe to the lungs and can cause life-threatening breathing problems.\n\nSome individuals with primary ciliary dyskinesia have abnormally placed organs within their chest and abdomen. These abnormalities arise early in embryonic development when the differences between the left and right sides of the body are established. About 50 percent of people with primary ciliary dyskinesia have a mirror-image reversal of their internal organs (situs inversus totalis). For example, in these individuals the heart is on the right side of the body instead of on the left. Situs inversus totalis does not cause any apparent health problems. When someone with primary ciliary dyskinesia has situs inversus totalis, they are often said to have Kartagener syndrome.\n\nApproximately 12 percent of people with primary ciliary dyskinesia have a condition known as heterotaxy syndrome or situs ambiguus, which is characterized by abnormalities of the heart, liver, intestines, or spleen. These organs may be structurally abnormal or improperly positioned. In addition, affected individuals may lack a spleen (asplenia) or have multiple spleens (polysplenia). Heterotaxy syndrome results from problems establishing the left and right sides of the body during embryonic development. The severity of heterotaxy varies widely among affected individuals.\n\nPrimary ciliary dyskinesia can also lead to infertility. Vigorous movements of the flagella are necessary to propel the sperm cells forward to the female egg cell. Because their sperm do not move properly, males with primary ciliary dyskinesia are usually unable to father children. Infertility occurs in some affected females and is likely due to abnormal cilia in the fallopian tubes.\n\nAnother feature of primary ciliary dyskinesia is recurrent ear infections (otitis media), especially in young children. Otitis media can lead to permanent hearing loss if untreated. The ear infections are likely related to abnormal cilia within the inner ear.\n\nRarely, individuals with primary ciliary dyskinesia have an accumulation of fluid in the brain (hydrocephalus), likely due to abnormal cilia in the brain.|MedlinePlus Genetics|N|
C2675874|Vernes et al. (2008) identified polymorphisms and a haplotype within the CNTNAP2 gene (604569) on chromosome 7q35-q36 implicated in the endophenotype of nonsense word repetition as a marker of specific language impairment.|OMIM|N|
C2675875|Chromosome 2p16.1-p15 deletion syndrome is a neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, and variable but distinctive dysmorphic features, including microcephaly, bitemporal narrowing, smooth and long philtrum, hypertelorism, downslanting palpebral fissures, broad nasal root, thin upper lip, and high palate. Many patients have behavioral disorders, including autistic features, as well as structural brain abnormalities, such as pachygyria or hypoplastic corpus callosum. Those with deletions including the BCL11A gene (606557) also have persistence of fetal hemoglobin (HbF), which is asymptomatic and does not affected hematologic parameters or susceptibility to infection (summary by Funnell et al., 2015).
Point mutation in the BCL11A gene causes intellectual developmental disorder with persistence of fetal hemoglobin (617101), which shows overlapping features.
See also fetal hemoglobin quantitative trait locus-5 (HBFQTL5; 142335).|OMIM|N|
C2675891|1q21.1 microduplication is a chromosomal change in which a small amount of genetic material on chromosome 1 is abnormally copied (duplicated). The duplication occurs on the long (q) arm of the chromosome at a location designated q21.1.\n\nSome people with a 1q21.1 microduplication have developmental delay and intellectual disability that is typically mild to moderate. Individuals with this condition can also have features of autism spectrum disorder. These disorders are characterized by impaired communication and socialization skills, as well as delayed development of speech and language. Expressive language skills (vocabulary and the production of speech) tend to be more impaired than receptive language skills (the ability to understand speech) in affected individuals. In childhood, 1q21.1 microduplications may also be associated with an increased risk of attention-deficit/hyperactivity disorder (ADHD) and other behavioral problems. Psychiatric disorders such as schizophrenia or mood disorders such as anxiety or depression occur in some affected individuals, usually during adulthood. Rarely, recurrent seizures (epilepsy) occur in people with a 1q21.1 microduplication.\n\nSome individuals with a 1q21.1 microduplication are born with malformations of the heart, including a particular combination of heart defects known as tetralogy of Fallot. Less commonly, other physical malformations such as the urethra opening on the underside of the penis (hypospadias) in males, inward- and upward-turning feet (clubfeet), or misalignment of the hip joint (hip dysplasia) are present at birth. Individuals with a 1q21.1 microduplication may also have a larger than average head size or taller than average adult stature. Some have slightly unusual facial features such as wide-set eyes or low-set ears. As adults, individuals with a 1q21.1 microduplication may be prone to develop cysts, swollen and knotted (varicose) veins, or carpal tunnel syndrome, which is characterized by numbness, tingling, and weakness in the hands and fingers. However, there is no particular pattern of physical abnormalities that characterizes 1q21.1 microduplications. Signs and symptoms related to the chromosomal change vary even among affected members of the same family. Some people with the duplication have no identified physical, intellectual, or behavioral abnormalities.|MedlinePlus Genetics|N|
C2675897|The 1q21.1 recurrent microdeletion itself does not appear to lead to a clinically recognizable syndrome as some persons with the deletion have no obvious clinical findings and others have variable findings that most commonly include microcephaly (50%), mild intellectual disability (30%), mildly dysmorphic facial features, and eye abnormalities (26%). Other findings can include cardiac defects, genitourinary anomalies, skeletal malformations, and seizures (~15%). Psychiatric and behavioral abnormalities can include autism spectrum disorders, attention deficit hyperactivity disorder, autistic features, and sleep disturbances.|GeneReviews|N|
C2675904|For a detailed discussion of the WAGR syndrome, see 194072. In a subgroup of individuals with the WAGR syndrome, obesity develops. The phenotype in this subset is associated with haploinsufficiency for the BDNF gene.|OMIM|N|
C2675920|A type of poikilocytosis characterized by the presence in the blood of erythrocytes of varying sizes and abnormal shapes.|HPO|N|
C2675945|An inherited susceptibility or predisposition to developing schizophrenia.|MONDO|N|
C2675973|Underdevelopment of the operculum.|HPO|N|
C2675993|A subtype of ductal pancreatic carcinoma that is thought to originate from squamous metaplasia of pancreatic ductal epithelium.|HPO|N|
C2676023|In hypercarotenemia and vitamin A deficiency (HCVAD), serum beta-carotene levels are very high, but serum vitamin A levels are low to low-normal. Yellow or orange discoloration of skin may be present (summary by Lindqvist et al., 2007).
See also 277350 for possible autosomal recessive inheritance.|OMIM|N|
C2676026|The presence of developmental dysplasia of the optic nerve.|HPO|N|
C2676032|A rare multiple congenital anomalies syndrome with characteristics of mild intellectual disability, short stature, cardiac anomalies, mild dysmorphic features (macrocephaly, prominent forehead, hypertelorism, exophthalmos), cutis laxa, joint hyperlaxity, wrinkled palms and soles and skeletal anomalies (sella turcica, wide ribs and small vertebral bodies).|SNOMEDCT_US|N|
C2676137|Diamond-Blackfan anemia (DBA) is characterized by a profound normochromic and usually macrocytic anemia with normal leukocytes and platelets, congenital malformations in up to 50%, and growth deficiency in 30% of affected individuals. The hematologic complications occur in 90% of affected individuals during the first year of life. The phenotypic spectrum ranges from a mild form (e.g., mild anemia or no anemia with only subtle erythroid abnormalities, physical malformations without anemia) to a severe form of fetal anemia resulting in nonimmune hydrops fetalis. DBA is associated with an increased risk for acute myelogenous leukemia (AML), myelodysplastic syndrome (MDS), and solid tumors including osteogenic sarcoma.|GeneReviews|N|
C2676191|A rare, hereditary endocrine tumor characterized by a benign pituitary adenoma that is either secreting (e.g. prolactin, growth hormone, thyroid stimulating hormone) or non-secreting. Symptoms may occur due to either the hormonal hypersecretion and/or the mass effect of the lesion on local structures in the brain.|ORDO|N|
C2676198|An elevated level of insulin-like growth factor 1 (IGF1) in the blood circulation.|HPO|N|
C2676230|Age-related hearing impairment (ARHI), or presbycusis, is the progressive bilaterally symmetric deterioration of hearing ability that occurs with aging. Studies of the cochlea in many animal species and of the histopathology of human temporal bones have shown that stria vascularis volumes and spiral ganglion cell, inner hair cell, and outer hair cell populations, as well as many other cochlear cell types and structures, undergo age-related degeneration. Environmental risk factors for ARHI include noise exposure, smoking, ototoxic medication, and cardiovascular disease. Heritability estimates vary between 0.25 and 0.75 depending on, among other factors, study design (family vs twins), age range of the study population, and the phenotype studied (Huyghe et al., 2008).|OMIM|N|
C2676232|Any classic complement early component deficiency in which the cause of the disease is a mutation in the C6 gene.|MONDO|N|
C2676234|This syndrome associates progressive visual loss with scoliosis or kyphoscoliosis and arachnodactyly of the fingers and toes.|ORDO|N|
C2676235|Primary ciliary dyskinesia is an autosomal recessive disorder resulting from loss of normal ciliary function. Kartagener (pronounced KART-agayner) syndrome is characterized by the combination of primary ciliary dyskinesia and situs inversus, and occurs in approximately half of patients with ciliary dyskinesia. Since normal nodal ciliary movement in the embryo is required for normal visceral asymmetry, absence of normal ciliary movement results in a lack of definitive patterning; thus, random chance alone appears to determine whether the viscera take up the normal or reversed left-right position during embryogenesis. This explains why approximately 50% of patients, even within the same family, have situs inversus (Afzelius, 1976; El Zein et al., 2003).
For a general description and a discussion of genetic heterogeneity of primary ciliary dyskinesia and Kartagener syndrome, see CILD1 (244400).|OMIM|N|
C2676243|POLR3-related leukodystrophy, a hypomyelinating leukodystrophy with specific features on brain MRI, is characterized by varying combinations of four major clinical findings: Neurologic dysfunction, typically predominated by motor dysfunction (progressive cerebellar dysfunction, and to a lesser extent extrapyramidal [i.e., dystonia], pyramidal [i.e., spasticity] and cognitive dysfunctions). Abnormal dentition (delayed dentition, hypodontia, oligodontia, and abnormally placed or shaped teeth). Endocrine abnormalities such as short stature (in ~50% of individuals) with or without growth hormone deficiency, and more commonly, hypogonadotropic hypogonadism manifesting as delayed, arrested, or absent puberty. Ocular abnormality in the form of myopia, typically progressing over several years and becoming severe. POLR3-related leukodystrophy and 4H leukodystrophy are the two recognized terms for five previously described overlapping clinical phenotypes (initially described as distinct entities before their molecular basis was known). These include: Hypomyelination, hypodontia, hypogonadotropic hypogonadism (4H syndrome); Ataxia, delayed dentition, and hypomyelination (ADDH); Tremor-ataxia with central hypomyelination (TACH); Leukodystrophy with oligodontia (LO); Hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum (HCAHC). Age of onset is typically in early childhood but later-onset cases have also been reported. An infant with Wiedemann-Rautenstrauch syndrome (neonatal progeroid syndrome) was recently reported to have pathogenic variants in POLR3A on exome sequencing. Confirmation of this as a very severe form of POLR3-related leukodystrophy awaits replication in other individuals with a clinical diagnosis of Wiedemann-Rautenstrauch syndrome.|GeneReviews|N|
C2676244|TUBB4A-related leukodystrophy comprises a phenotypic spectrum in which the MRI findings range from hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) at the severe end to isolated hypomyelination at the mild end. Progressive neurologic findings reflect involvement of the pyramidal tracts (spasticity, brisk deep tendon reflexes, and Babinski sign), extrapyramidal system (rigidity, dystonia, choreoathetosis, oculogyric crisis, and perioral dyskinesia), cerebellum (ataxia, intention tremor, dysmetria), and bulbar function (dysarthria, dysphonia, and swallowing). Cognition is variably affected, usually less severely than motor function. Typically, those with H-ABC present in early childhood (ages 1-3 years) and those with isolated hypomyelination in later childhood or adulthood. The rate of progression varies with disease severity.|GeneReviews|N|
C2676254|Individuals with biallelic PRICKLE1-related disorders typically present with progressive myoclonus epilepsy (PME) with ataxia characterized by myoclonic seizures (lightning-like jerks), generalized convulsive seizures, varying degrees of neurologic regression mainly presenting with ataxia, and mild cognitive impairment or normal cognition. Onset of symptoms is between ages five and ten years. Action myoclonus may affect the limbs or bulbar muscles, while spontaneous myoclonus may occasionally involve facial muscles. Dysarthria may also be an early feature of this condition. The main seizure types are myoclonic or tonic-clonic with frequent nocturnal occurrence. Individuals with heterozygous PRICKLE1 pathogenic variants have presented with non-PME seizures (isolated myoclonic seizures, juvenile myoclonic epilepsy), myoclonic epilepsy, developmental delay, intellectual disability, autism spectrum disorder, and/or central nervous system malformations.|GeneReviews|N|
C2676271|Familial restrictive cardiomyopathy is a genetic form of heart disease. For the heart to beat normally, the heart (cardiac) muscle must contract and relax in a coordinated way. Oxygen-rich blood from the lungs travels first through the upper chambers of the heart (the atria), and then to the lower chambers of the heart (the ventricles).\n\nIn people with familial restrictive cardiomyopathy, the heart muscle is stiff and cannot fully relax after each contraction. Impaired muscle relaxation causes blood to back up in the atria and lungs, which reduces the amount of blood in the ventricles.\n\nFamilial restrictive cardiomyopathy can appear anytime from childhood to adulthood. The first signs and symptoms of this condition in children are failure to gain weight and grow at the expected rate (failure to thrive), extreme tiredness (fatigue), and fainting. Children who are severely affected may also have abnormal swelling or puffiness (edema), increased blood pressure, an enlarged liver, an abnormal buildup of fluid in the abdominal cavity (ascites), and lung congestion. Some children with familial restrictive cardiomyopathy do not have any obvious signs or symptoms, but they may die suddenly due to heart failure. Without treatment, the majority of affected children survive only a few years after they are diagnosed.\n\nAdults with familial restrictive cardiomyopathy typically first develop shortness of breath, fatigue, and a reduced ability to exercise. Some individuals have an irregular heart beat (arrhythmia) and may also experience a sensation of fluttering or pounding in the chest (palpitations) and dizziness. Abnormal blood clots are commonly seen in adults with this condition. Without treatment, approximately one-third of adults with familial restrictive cardiomyopathy do not survive more than five years after diagnosis.|MedlinePlus Genetics|N|
C2676275|Narcolepsy is a chronic sleep disorder that disrupts the normal sleep-wake cycle. Although this condition can appear at any age, it most often begins in adolescence.\n\nSome people with narcolepsy have all of the major features of the disorder, while others have only one or two. Most of the signs and symptoms persist throughout life, although episodes of cataplexy may become less frequent with age and treatment.\n\nNarcolepsy is characterized by excessive daytime sleepiness. Affected individuals feel tired during the day, and several times a day they may experience an overwhelming urge to sleep. "Sleep attacks" can occur at unusual times, such as during a meal or in the middle of a conversation. They last from a few seconds to a few minutes and often lead to a longer nap, after which affected individuals wake up feeling refreshed.\n\nAnother common feature of narcolepsy is cataplexy, which is a sudden loss of muscle tone in response to strong emotion (such as laughing, surprise, or anger). These episodes of muscle weakness can cause an affected person to slump over or fall, which occasionally leads to injury. Episodes of cataplexy usually last just a few seconds, and they may occur from several times a day to a few times a year. Most people diagnosed with narcolepsy also have cataplexy. However, some do not, which has led researchers to distinguish two major forms of the condition: narcolepsy with cataplexy and narcolepsy without cataplexy.\n\nNarcolepsy also affects nighttime sleep. Most affected individuals have trouble sleeping for more than a few hours at night. They often experience vivid hallucinations while falling asleep (hypnogogic hallucinations) or while waking up (hypnopompic hallucinations). Affected individuals often have realistic and distressing dreams, and they may act out their dreams by moving excessively or talking in their sleep. Many people with narcolepsy also experience sleep paralysis, which is an inability to move or speak for a short period while falling asleep or awakening. The combination of hallucinations, vivid dreams, and sleep paralysis is often frightening and unpleasant for affected individuals.|MedlinePlus Genetics|N|
C2676281|Primary dystonia, DYT17 type is a rare, genetic, isolated dystonia initially presenting as torticollis, and later progressing to segmental or generalized dystonia. Dysphonia and dysarthria also occur later in the disease course.|ORDO|N|
C2676285|Connective tissue disorder due to lysyl hydroxylase-3 deficiency is a rare, genetic disease, caused by lack of lysyl hydrohylase 3 (LH3) activity, characterized by multiple tissue and organ involvement, including skeletal abnormalities (club foot, progressive scoliosis, osteopenia, pathologic fractures), ocular involvement (flat retinae, myopia, cataracts) and hair, nail and skin anomalies (coarse, abnormally distributed hair, skin blistering, reduced palmar creases, hypoplastic nails). Patients also present intrauterine growth retardation, facial dysmorphism (flat facial profile, low-set ears, shallow orbits, short and upturned nose, downturned corners of mouth) and joint flexion contractures. Growth and developmental delay, bilateral sensorineural deafness, friable diaphragm and later-onset spontaneous vascular ruptures are additional reported features.|ORDO|N|
C2676443|An abnormal osseous union (fusion) between the proximal portions of the radius and the ulna.|HPO|N|
C2676465|TSEN54 pontocerebellar hypoplasia (TSEN54-PCH) comprises three PCH phenotypes (PCH2, 4, and 5) that share characteristic neuroradiologic and neurologic findings. The three PCH phenotypes (which differ mainly in life expectancy) were considered to be distinct entities before their molecular basis was known. PCH2. Children usually succumb before age ten years (those with PCH4 and 5 usually succumb as neonates). Children with PCH2 have generalized clonus, uncoordinated sucking and swallowing, impaired cognitive development, lack of voluntary motor development, cortical blindness, and an increased risk for rhabdomyolysis during severe infections. Epilepsy is present in approximately 50%. PCH4. Neonates often have seizures, multiple joint contractures ("arthrogryposis"), generalized clonus, and central respiratory impairment. PCH5 resembles PCH4 and has been described in one family.|GeneReviews|N|
C2676466|TSEN54 pontocerebellar hypoplasia (TSEN54-PCH) comprises three PCH phenotypes (PCH2, 4, and 5) that share characteristic neuroradiologic and neurologic findings. The three PCH phenotypes (which differ mainly in life expectancy) were considered to be distinct entities before their molecular basis was known. PCH2. Children usually succumb before age ten years (those with PCH4 and 5 usually succumb as neonates). Children with PCH2 have generalized clonus, uncoordinated sucking and swallowing, impaired cognitive development, lack of voluntary motor development, cortical blindness, and an increased risk for rhabdomyolysis during severe infections. Epilepsy is present in approximately 50%. PCH4. Neonates often have seizures, multiple joint contractures ("arthrogryposis"), generalized clonus, and central respiratory impairment. PCH5 resembles PCH4 and has been described in one family.|GeneReviews|N|
C2676468|Any sarcoidosis in which the cause of the disease is a mutation in the BTNL2 gene.|MONDO|N|
C2676484|An inflammatory bowel disease that has material basis in variation in the chromosome region 1q32.1.|MONDO|N|
C2676485|An inflammatory bowel disease that has material basis in variation in the chromosome region 17q21.2.|MONDO|N|
C2676507|An inflammatory bowel disease that has material basis in variation in the chromosome region 18p11.|MONDO|N|
C2676508|Porokeratosis is a rare skin disorder characterized by one or more annular plaques with a surrounding raised horny border that spreads centrifugally. Variants of porokeratosis have been described that differ in morphologic shapes, distribution, and clinical course (Schamroth et al., 1997). However, as noted by Sybert (2010), reports of several families with expression of more than one variant of porokeratosis among members, and of individuals expressing more than one variant, suggest that the distinctions among these variants may be artificial.
Disseminated superficial actinic porokeratosis (DSAP) is the most common subtype of porokeratosis. It is characterized by multiple small, annular, anhidrotic, keratotic lesions that are located predominantly on sun-exposed areas of the skin, such as the face, neck, and distal limbs. The lesions typically begin to develop in adolescence and reach near-complete penetrance by the third or fourth decade of life (summary by Wu et al., 2004 and Zhang et al., 2012).|OMIM|N|
C2676510|Ehlers-Danlos syndrome spondylodysplastic type 3 (EDSSPD3) is characterized by short stature, hyperelastic skin and hypermobile joints, protuberant eyes with bluish sclerae, finely wrinkled palms, and characteristic radiologic features (Giunta et al., 2008).
For a discussion of genetic heterogeneity of the spondylodysplastic type of Ehlers-Danlos syndrome, see 130070.|OMIM|N|
C2676676|BRCA1- and BRCA2-associated hereditary breast and ovarian cancer (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (including fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. The risk of developing an associated cancer varies depending on whether HBOC is caused by a BRCA1 or BRCA2 pathogenic variant.|GeneReviews|N|
C2676723|Jervell and Lange-Nielsen syndrome (JLNS) is characterized by congenital profound bilateral sensorineural hearing loss and long QTc, usually >500 msec. Prolongation of the QTc interval is associated with tachyarrhythmias, including ventricular tachycardia, episodes of torsade de pointes ventricular tachycardia, and ventricular fibrillation, which may culminate in syncope or sudden death. Iron-deficient anemia and elevated levels of gastrin are also frequent features of JLNS. The classic presentation of JLNS is a deaf child who experiences syncopal episodes during periods of stress, exercise, or fright. Fifty percent of individuals with JLNS had cardiac events before age three years. More than half of untreated children with JLNS die before age 15 years.|GeneReviews|N|
C2676725|Pulli et al. (2008) hypothesized that musical aptitude is an innate cognitive ability that can be partly explained by genetic regulation. Exceptional phenotypes of musical aptitude such as absolute pitch (159300) and amusia (191200) are also thought to have a genetic component. Since musical ability varies between individuals, it is likely a complex trait influenced by several underlying genes, environmental factors, and their interactions.|OMIM|N|
C2676732|A complex hereditary spastic paraplegia with characteristics of mild to severe lower limbs spasticity, hyperreflexia, extensor plantar responses, pes cavus and significant wasting and weakness of the small hand muscles. Impaired vibration sensation, temporal lobe epilepsy and cognitive dysfunction were also reported.|SNOMEDCT_US|N|
C2676739|SATB2-associated syndrome (SAS) is a multisystem disorder characterized by significant neurodevelopmental compromise with limited to absent speech, behavioral issues, and craniofacial anomalies. All individuals described to date have manifest developmental delay / intellectual disability, with severe speech delay. Affected individuals often have hypotonia and feeding difficulties in infancy. Behavioral issues may include autistic features, hyperactivity, and aggressiveness. Craniofacial anomalies may include palatal abnormalities (cleft palate, high-arched palate, and bifid uvula), micrognathia, and abnormal shape or size of the upper central incisors. Less common features include skeletal anomalies (osteopenia, pectus deformities, kyphosis/lordosis, and scoliosis), growth restriction, strabismus/refractive errors, congenital heart defects, genitourinary anomalies, and epilepsy. While dysmorphic features have been described in individuals with this condition, these features are not typically distinctive enough to allow for a clinical diagnosis of SAS.|GeneReviews|N|
C2676742|Any primary ovarian failure in which the cause of the disease is a mutation in the FIGLA gene.|MONDO|N|
C2676758|There is evidence that genetic variation may affect circulating thyroid-stimulating hormone (TSH; see 188540) levels. Deficiency in TSH can cause nongoitrous congenital hypothyroidism (see CHNG4, 275100).|OMIM|N|
C2676759|Autosomal recessive protein C deficiency resulting from homozygous or compound heterozygous PROC mutations is a thrombotic condition that can manifest as a severe neonatal disorder or as a milder disorder with late-onset thrombophilia (Millar et al., 2000).|OMIM|N|
C2676766|Other features of autosomal recessive osteopetrosis can include slow growth and short stature, dental abnormalities, and an enlarged liver and spleen (hepatosplenomegaly). Depending on the genetic changes involved, people with severe osteopetrosis can also have brain abnormalities, intellectual disability, or recurrent seizures (epilepsy).\n\nAutosomal recessive osteopetrosis (ARO) is a more severe form of the disorder that becomes apparent in early infancy. Affected individuals have a high risk of bone fracture resulting from seemingly minor bumps and falls. Their abnormally dense skull bones pinch nerves in the head and face (cranial nerves), often resulting in vision loss, hearing loss, and paralysis of facial muscles. Dense bones can also impair the function of bone marrow, preventing it from producing new blood cells and immune system cells. As a result, people with severe osteopetrosis are at risk of abnormal bleeding, a shortage of red blood cells (anemia), and recurrent infections. In the most severe cases, these bone marrow abnormalities can be life-threatening in infancy or early childhood.\n\nIn individuals with ADO who develop signs and symptoms, the major features of the condition include multiple bone fractures after minor injury, abnormal side-to-side curvature of the spine (scoliosis) or other spinal abnormalities, arthritis in the hips, and a bone infection called osteomyelitis. These problems usually become apparent in late childhood or adolescence.\n\nAutosomal dominant osteopetrosis (ADO), which is also called Albers-Schönberg disease, is typically the mildest type of the disorder. Some affected individuals have no symptoms. In affected people with no symptoms, the unusually dense bones may be discovered by accident when an x-ray is done for another reason. \n\nOsteopetrosis is a bone disease that makes bone tissue abnormally compact and dense and also prone to breakage (fracture). Researchers have described several major types of osteopetrosis, which are usually distinguished by their pattern of inheritance: autosomal dominant or autosomal recessive. The different types of the disorder can also be distinguished by the severity of their signs and symptoms.\n\nA few individuals have been diagnosed with intermediate autosomal osteopetrosis (IAO), a form of the disorder that can have either an autosomal dominant or an autosomal recessive pattern of inheritance. The signs and symptoms of this condition become noticeable in childhood and include an increased risk of bone fracture and anemia. People with this form of the disorder typically do not have life-threatening bone marrow abnormalities. However, some affected individuals have had abnormal calcium deposits (calcifications) in the brain, intellectual disability, and a form of kidney disease called renal tubular acidosis.|MedlinePlus Genetics|N|
C2676767|CD59-mediated hemolytic anemia with immune-mediated polyneuropathy is an autosomal recessive disorder characterized by infantile onset of a relapsing-remitting polyneuropathy, often exacerbated by infection, and manifest as hypotonia, limb muscle weakness, and hyporeflexia. Immunosuppressive treatment may result in some clinical improvement (summary by Nevo et al., 2013).|OMIM|N|
C2676769|Porokeratosis is a rare skin disorder characterized by one or more annular plaques with a surrounding raised horny border that spreads centrifugally. Variants of porokeratosis have been described that differ in morphologic shapes, distribution, and clinical course (Schamroth et al., 1997). However, as noted by Sybert (2010), several families with expression of more than one variant of porokeratosis among members, and individuals expressing more than one variant, have been reported, suggesting that the distinctions among these variants may be artificial.
Disseminated superficial actinic porokeratosis (DSAP) is the most common subtype of porokeratosis. It is characterized by multiple small, annular, anhidrotic, keratotic lesions that are located predominantly on sun-exposed areas of the skin, such as the face, neck, and distal limbs. The lesions typically begin to develop in adolescence and reach near-complete penetrance by the third or fourth decade of life (summary by Wu et al., 2004 and Zhang et al., 2012).
For a discussion of genetic heterogeneity of porokeratosis, see 175800.|OMIM|N|
C2676770|KCNK9 imprinting syndrome is characterized by congenital central hypotonia (manifest as decreased movement, lethargy, and weak cry), severe feeding difficulties (resulting from facial weakness and poor suck), delayed development/intellectual disability, and dysmorphic manifestations. Poor feeding can cause failure to thrive during infancy unless managed appropriately. Significant dysphagia of solid foods typically persists until puberty. Intellectual disability can be severe. To date 19 individuals with a molecularly confirmed diagnosis have been reported.|GeneReviews|N|
C2676771|Classic Joubert syndrome (JS) is characterized by three primary findings: A distinctive cerebellar and brain stem malformation called the molar tooth sign (MTS). Hypotonia. Developmental delays. Often these findings are accompanied by episodic tachypnea or apnea and/or atypical eye movements. In general, the breathing abnormalities improve with age, truncal ataxia develops over time, and acquisition of gross motor milestones is delayed. Cognitive abilities are variable, ranging from severe intellectual disability to normal. Additional findings can include retinal dystrophy, renal disease, ocular colobomas, occipital encephalocele, hepatic fibrosis, polydactyly, oral hamartomas, and endocrine abnormalities. Both intra- and interfamilial variation are seen.|GeneReviews|N|
C2676772|A rare genetic, orofacial clefting syndrome characterized by the association of bilateral microtia with severe to profound hearing impairment, and cleft palate.|ORDO|N|
C2676780|SLC25A24 Fontaine progeroid syndrome is a multisystem connective tissue disorder characterized by poor growth, abnormal skeletal features, and distinctive craniofacial features with sagging, thin skin, and decreased subcutaneous fat suggesting an aged appearance that is most pronounced in infancy and improves with time. Characteristic radiographic features include turribrachycephaly with widely open anterior fontanelle, craniosynostosis, and anomalies of the terminal phalanges. Cardiovascular, genitourinary, ocular, and gastrointestinal abnormalities may also occur. To date, 13 individuals with a molecularly confirmed diagnosis of SLC25A24 Fontaine progeroid syndrome have been described.|GeneReviews|N|
C2676781|An inflammatory bowel disease that has material basis in variation in the chromosome region 10q23-q24.|MONDO|N|
C2676788|Classic Joubert syndrome (JS) is characterized by three primary findings: A distinctive cerebellar and brain stem malformation called the molar tooth sign (MTS). Hypotonia. Developmental delays. Often these findings are accompanied by episodic tachypnea or apnea and/or atypical eye movements. In general, the breathing abnormalities improve with age, truncal ataxia develops over time, and acquisition of gross motor milestones is delayed. Cognitive abilities are variable, ranging from severe intellectual disability to normal. Additional findings can include retinal dystrophy, renal disease, ocular colobomas, occipital encephalocele, hepatic fibrosis, polydactyly, oral hamartomas, and endocrine abnormalities. Both intra- and interfamilial variation are seen.|GeneReviews|N|
C2676790|Other signs and symptoms of Meckel syndrome vary widely among affected individuals. Numerous abnormalities of the brain and spinal cord (central nervous system) have been reported in people with Meckel syndrome, including a group of birth defects known as neural tube defects. These defects occur when a structure called the neural tube, a layer of cells that ultimately develops into the brain and spinal cord, fails to close completely during the first few weeks of embryonic development. Meckel syndrome can also cause problems with development of the eyes and other facial features, heart, bones, urinary system, and genitalia.\n\nBecause of their serious health problems, most individuals with Meckel syndrome die before or shortly after birth. Most often, affected infants die of respiratory problems or kidney failure.\n\nMeckel syndrome is a disorder with severe signs and symptoms that affect many parts of the body. The most common features are enlarged kidneys with numerous fluid-filled cysts; an occipital encephalocele, which is a sac-like protrusion of the brain through an opening at the back of the skull; and the presence of extra fingers and toes (polydactyly). Most affected individuals also have a buildup of scar tissue (fibrosis) in the liver.|MedlinePlus Genetics|N|
C2676832|Any microvascular complications of diabetes, susceptibility in which the cause of the disease is a mutation in the VEGFA gene.|MONDO|N|
C2676973|The presence of a dilated inner part of external acoustic meatus.|HPO|N|
C2676974|Developmental hypoplasia of the cochlea.|HPO|N|
C2677065|Autosomal recessive congenital ichthyosis (ARCI) encompasses several forms of nonsyndromic ichthyosis. Although most neonates with ARCI are collodion babies, the clinical presentation and severity of ARCI may vary significantly, ranging from harlequin ichthyosis, the most severe and often fatal form, to lamellar ichthyosis (LI) and (nonbullous) congenital ichthyosiform erythroderma (CIE). These phenotypes are now recognized to fall on a continuum; however, the phenotypic descriptions are clinically useful for clarification of prognosis and management. Infants with harlequin ichthyosis are usually born prematurely and are encased in thick, hard, armor-like plates of cornified skin that severely restrict movement. Life-threatening complications in the immediate postnatal period include respiratory distress, feeding problems, and systemic infection. Collodion babies are born with a taut, shiny, translucent or opaque membrane that encases the entire body and lasts for days to weeks. LI and CIE are seemingly distinct phenotypes: classic, severe LI with dark brown, plate-like scale with no erythroderma and CIE with finer whiter scale and underlying generalized redness of the skin. Affected individuals with severe involvement can have ectropion, eclabium, scarring alopecia involving the scalp and eyebrows, and palmar and plantar keratoderma. Besides these major forms of nonsyndromic ichthyosis, a few rare subtypes have been recognized, such as bathing suit ichthyosis, self-improving collodion ichthyosis, or ichthyosis-prematurity syndrome.|GeneReviews|N|
C2677079|Any inflammatory bowel disease in which the cause of the disease is a mutation in the IRGM gene.|MONDO|N|
C2677085|Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). The signs and symptoms of this condition are caused by abnormal cilia and flagella. Cilia are microscopic, finger-like projections that stick out from the surface of cells. They are found in the linings of the airway, the reproductive system, and other organs and tissues. Flagella are tail-like structures, similar to cilia, that propel sperm cells forward.\n\nIn the respiratory tract, cilia move back and forth in a coordinated way to move mucus towards the throat. This movement of mucus helps to eliminate fluid, bacteria, and particles from the lungs. Most babies with primary ciliary dyskinesia experience breathing problems at birth, which suggests that cilia play an important role in clearing fetal fluid from the lungs. Beginning in early childhood, affected individuals develop frequent respiratory tract infections. Without properly functioning cilia in the airway, bacteria remain in the respiratory tract and cause infection. People with primary ciliary dyskinesia also have year-round nasal congestion and a chronic cough. Chronic respiratory tract infections can result in a condition called bronchiectasis, which damages the passages, called bronchi, leading from the windpipe to the lungs and can cause life-threatening breathing problems.\n\nSome individuals with primary ciliary dyskinesia have abnormally placed organs within their chest and abdomen. These abnormalities arise early in embryonic development when the differences between the left and right sides of the body are established. About 50 percent of people with primary ciliary dyskinesia have a mirror-image reversal of their internal organs (situs inversus totalis). For example, in these individuals the heart is on the right side of the body instead of on the left. Situs inversus totalis does not cause any apparent health problems. When someone with primary ciliary dyskinesia has situs inversus totalis, they are often said to have Kartagener syndrome.\n\nApproximately 12 percent of people with primary ciliary dyskinesia have a condition known as heterotaxy syndrome or situs ambiguus, which is characterized by abnormalities of the heart, liver, intestines, or spleen. These organs may be structurally abnormal or improperly positioned. In addition, affected individuals may lack a spleen (asplenia) or have multiple spleens (polysplenia). Heterotaxy syndrome results from problems establishing the left and right sides of the body during embryonic development. The severity of heterotaxy varies widely among affected individuals.\n\nPrimary ciliary dyskinesia can also lead to infertility. Vigorous movements of the flagella are necessary to propel the sperm cells forward to the female egg cell. Because their sperm do not move properly, males with primary ciliary dyskinesia are usually unable to father children. Infertility occurs in some affected females and is likely due to abnormal cilia in the fallopian tubes.\n\nAnother feature of primary ciliary dyskinesia is recurrent ear infections (otitis media), especially in young children. Otitis media can lead to permanent hearing loss if untreated. The ear infections are likely related to abnormal cilia within the inner ear.\n\nRarely, individuals with primary ciliary dyskinesia have an accumulation of fluid in the brain (hydrocephalus), likely due to abnormal cilia in the brain.|MedlinePlus Genetics|N|
C2677087|In most people with childhood absence epilepsy, the absence seizures disappear in adolescence. However, some affected individuals continue to have absence seizures into adulthood, or they may develop generalized tonic-clonic seizures, which cause muscle rigidity, convulsions, and loss of consciousness, or myoclonic seizures, which are characterized by rapid, uncontrolled muscle jerks.\n\nChildhood absence epilepsy is a condition characterized by recurrent seizures (epilepsy). This condition begins in childhood, usually between ages 3 and 8. Affected children have absence seizures (also known as petit mal seizures), which are brief episodes of impaired consciousness that look like staring spells. During seizures, children are not aware of and do not respond to people or activities around them. The seizures usually last several seconds and they occur often, up to 200 times each day.\n\nSome affected individuals have febrile seizures before they develop childhood absence epilepsy. Febrile seizures are involuntary muscle contractions (convulsions) brought on by a high body temperature (fever).|MedlinePlus Genetics|N|
C2677089|Malignant melanoma is a neoplasm of pigment-producing cells called melanocytes that occurs most often in the skin, but may also occur in the eyes, ears, gastrointestinal tract, leptomeninges, and oral and genital mucous membranes (summary by Habif, 2010).
For a discussion of genetic heterogeneity of cutaneous malignant melanoma, see CMM1 (155600).|OMIM|N|
C2677090|An inflammatory bowel disease that has material basis in variation in the chromosome region 5p13.1.|MONDO|N|
C2677091|Any inflammatory bowel disease in which the cause of the disease is a mutation in the IL23R gene.|MONDO|N|
C2677092|Immunodeficiency-68 (IMD68) is an autosomal recessive primary immunodeficiency characterized by severe systemic and invasive bacterial infections beginning in infancy or early childhood. The most common organisms implicated are Streptococcus pneumoniae, Staphylococcus aureus, and Pseudomonas, although other organisms may be observed. IMD68 is life-threatening in infancy and early childhood. The first invasive infection typically occurs before 2 years of age, with meningitis and upper respiratory infections being common manifestations. The mortality rate in early childhood is high, with most deaths occurring before 8 years of age. Affected individuals have an impaired inflammatory response to infection, including lack of fever and neutropenia, although erythrocyte sedimentation rate (ESR) and C-reactive protein may be elevated. General immunologic workup tends to be normal, with normal levels of B cells, T cells, and NK cells. However, more detailed studies indicate impaired cytokine response to lipopolysaccharide (LPS) and IL1B (147720) stimulation; response to TNFA (191160) is usually normal. Patients have good antibody responses to most vaccinations. Viral, fungal, and parasitic infections are generally not observed. Early detection is critical in early childhood because prophylactic treatment with IVIg or certain antibiotics is effective; the disorder tends to improve naturally around adolescence. At the molecular level, IMD68 results from impaired function of selective Toll receptor (see TLR4, 603030)/IL1R (see IL1R1; 147810) signaling pathways that ultimately activate NFKB (164011) to produce cytokines (summary by Picard et al., 2010).
See also IMD67 (607676), caused by mutation in the IRAK4 gene (602170), which shows a similar phenotype to IMD68. As the MYD88 and IRAK4 genes interact in the same intracellular signaling pathway, the clinical and cellular features are almost indistinguishable (summary by Picard et al., 2010).|OMIM|N|
C2677093|An inflammatory bowel disease that has material basis in variation in the chromosome region 9q32.|MONDO|N|
C2677094|An inflammatory bowel disease that has material basis in variation in the chromosome region 10q21.|MONDO|N|
C2677096|Any systemic lupus erythematosus in which the cause of the disease is a mutation in the STAT4 gene.|MONDO|N|
C2677097|Systemic lupus erythematosus (SLE) is a chronic disease that causes inflammation in connective tissues, such as cartilage and the lining of blood vessels, which provide strength and flexibility to structures throughout the body. The signs and symptoms of SLE vary among affected individuals, and can involve many organs and systems, including the skin, joints, kidneys, lungs, central nervous system, and blood-forming (hematopoietic) system. SLE is one of a large group of conditions called autoimmune disorders that occur when the immune system attacks the body's own tissues and organs.\n\nSLE may first appear as extreme tiredness (fatigue), a vague feeling of discomfort or illness (malaise), fever, loss of appetite, and weight loss. Most affected individuals also have joint pain, typically affecting the same joints on both sides of the body, and muscle pain and weakness. Skin problems are common in SLE. A characteristic feature is a flat red rash across the cheeks and bridge of the nose, called a "butterfly rash" because of its shape. The rash, which generally does not hurt or itch, often appears or becomes more pronounced when exposed to sunlight. Other skin problems that may occur in SLE include calcium deposits under the skin (calcinosis), damaged blood vessels (vasculitis) in the skin, and tiny red spots called petechiae. Petechiae are caused by a shortage of cells involved in clotting (platelets), which leads to bleeding under the skin. Affected individuals may also have hair loss (alopecia) and open sores (ulcerations) in the moist lining (mucosae) of the mouth, nose, or, less commonly, the genitals.\n\nAbout a third of people with SLE develop kidney disease (nephritis). Heart problems may also occur in SLE, including inflammation of the sac-like membrane around the heart (pericarditis) and abnormalities of the heart valves, which control blood flow in the heart. Heart disease caused by fatty buildup in the blood vessels (atherosclerosis), which is very common in the general population, is even more common in people with SLE. The inflammation characteristic of SLE can also damage the nervous system, and may result in abnormal sensation and weakness in the limbs (peripheral neuropathy); seizures; stroke; and difficulty processing, learning, and remembering information (cognitive impairment). Anxiety and depression are also common in SLE.\n\nPeople with SLE have episodes in which the condition gets worse (exacerbations) and other times when it gets better (remissions). Overall, SLE gradually gets worse over time, and damage to the major organs of the body can be life-threatening.|MedlinePlus Genetics|N|
C2677099|Crouzon syndrome with acanthosis nigricans is considered to be a distinct disorder from classic Crouzon syndrome (123500), which is caused by mutation in the FGFR2 gene (176943). Cohen (1999) argued that this condition is separate from Crouzon syndrome for 2 main reasons: it is caused by a highly specific mutation of the FGFR3 gene, whereas multiple different FGFR2 mutations result in Crouzon syndrome, and the phenotypes are different.|OMIM|N|
C2677100|Any inflammatory bowel disease in which the cause of the disease is a mutation in the IRF5 gene.|MONDO|N|
C2677101|Any inflammatory bowel disease in which the cause of the disease is a mutation in the ABCB1 gene.|MONDO|N|
C2677105|An inflammatory bowel disease that has material basis in variation in the chromosome region 3p21.3|MONDO|N|
C2677106|Atrial fibrillation (AF) is the most common sustained cardiac rhythm disturbance, affecting more than 2 million Americans, with an overall prevalence of 0.89%. The prevalence increases rapidly with age, to 2.3% between the ages of 40 and 60 years, and to 5.9% over the age of 65. The most dreaded complication is thromboembolic stroke (Brugada et al., 1997).
For a discussion of genetic heterogeneity of atrial fibrillation, see 608583.|OMIM|N|
C2677107|Idiopathic scoliosis is a structurally fixed lateral curvature of the spine with a rotatory component. There is at least a 10 degree curvature as demonstrated by upright spine roentgenograms by the Cobb method (Weinstein, 1994).
For a discussion of genetic heterogeneity of isolated scoliosis, see IS1 (181800).|OMIM|N|
C2677108|Idiopathic scoliosis is a structurally fixed lateral curvature of the spine with a rotatory component. There is at least a 10 degree curvature as demonstrated by upright spine roentgenograms by the Cobb method (Weinstein, 1994).
For a discussion of genetic heterogeneity of isolated scoliosis, see IS1 (181800).|OMIM|N|
C2677109|Any leukodystrophy in which the cause of the disease is a mutation in the HSPD1 gene.|MONDO|N|
C2677123|Any colorectal cancer in which the cause of the disease is a mutation in the SMAD7 gene.|MONDO|N|
C2677132|Maturity-onset diabetes of the young (MODY) is a group of several conditions characterized by abnormally high levels of blood glucose, also called blood sugar. These forms of diabetes typically begin before age 30, although they can occur later in life. In MODY, elevated blood glucose arises from reduced production of insulin, which is a hormone produced in the pancreas that helps regulate blood glucose levels. Specifically, insulin controls how much glucose (a type of sugar) is passed from the blood into cells, where it is used as an energy source.\n\nThe different types of MODY are distinguished by their genetic causes. The most common types are HNF1A-MODY (also known as MODY3), accounting for 50 to 70 percent of cases, and GCK-MODY (MODY2), accounting for 30 to 50 percent of cases. Less frequent types include HNF4A-MODY (MODY1) and renal cysts and diabetes (RCAD) syndrome (also known as HNF1B-MODY or MODY5), which each account for 5 to 10 percent of cases. At least ten other types have been identified, and these are very rare.\n\nHNF1A-MODY and HNF4A-MODY have similar signs and symptoms that develop slowly over time. Early signs and symptoms in these types are caused by high blood glucose and may include frequent urination (polyuria), excessive thirst (polydipsia), fatigue, blurred vision, weight loss, and recurrent skin infections. Over time uncontrolled high blood glucose can damage small blood vessels in the eyes and kidneys. Damage to the light-sensitive tissue at the back of the eye (the retina) causes a condition known as diabetic retinopathy that can lead to vision loss and eventual blindness. Kidney damage (diabetic nephropathy) can lead to kidney failure and end-stage renal disease (ESRD). While these two types of MODY are very similar, certain features are particular to each type. For example, babies with HNF4A-MODY tend to weigh more than average or have abnormally low blood glucose at birth, even though other signs of the condition do not occur until childhood or young adulthood. People with HNF1A-MODY have a higher-than-average risk of developing noncancerous (benign) liver tumors known as hepatocellular adenomas.\n\nGCK-MODY is a very mild type of the condition. People with this type have slightly elevated blood glucose levels, particularly in the morning before eating (fasting blood glucose). However, affected individuals often have no symptoms related to the disorder, and diabetes-related complications are extremely rare.\n\nRCAD is associated with a combination of diabetes and kidney or urinary tract abnormalities (unrelated to the elevated blood glucose), most commonly fluid-filled sacs (cysts) in the kidneys. However, the signs and symptoms are variable, even within families, and not everyone with RCAD has both features. Affected individuals may have other features unrelated to diabetes, such as abnormalities of the pancreas or liver or a form of arthritis called gout.|MedlinePlus Genetics|N|
C2677167|This syndrome is characterized by congenital lymphedema of the lower limbs, atrial septal defect and a characteristic facies (a round face with a prominent forehead, a flat nasal bridge with a broad nasal tip, epicanthal folds, a thin upper lip and a cleft chin). It has been described in two brothers and a sister. Transmission appears to be autosomal recessive.|SNOMEDCT_US|N|
C2677180|Head circumference below 2 standard deviations below the mean for age and gender at birth.|HPO|N|
C2677209|A chronic loss of joint motion in metacarpophalangeal joints due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement.|HPO|N|
C2677294|Atrial fibrillation (AF) is the most common sustained cardiac rhythm disturbance, affecting more than 2 million Americans, with an overall prevalence of 0.89%. The prevalence increases rapidly with age, to 2.3% between the ages of 40 and 60 years, and to 5.9% over the age of 65. The most dreaded complication is thromboembolic stroke (Brugada et al., 1997).
For a discussion of genetic heterogeneity of atrial fibrillation, see 608583.|OMIM|N|
C2677299|Cerebroretinal microangiopathy with calcifications and cysts (CRMCC), also known as Coats plus syndrome, is an autosomal recessive pleomorphic disorder characterized primarily by intracranial calcifications, leukodystrophy, and brain cysts, resulting in spasticity, ataxia, dystonia, seizures, and cognitive decline. Patients also have retinal telangiectasia and exudates (Coats disease) as well as extraneurologic manifestations, including osteopenia with poor bone healing and a high risk of gastrointestinal bleeding and portal hypertension caused by vasculature ectasias in the stomach, small intestine, and liver. Some individuals also have hair, skin, and nail changes, as well as anemia and thrombocytopenia (summary by Anderson et al., 2012 and Polvi et al., 2012).
Leukoencephalopathy, brain calcifications, and cysts (LCC), also known as Labrune syndrome (614561), has similar central nervous system features as CRMCC in the absence of extraneurologic or systemic manifestations. Although Coats plus syndrome and Labrune syndrome were initially thought to be manifestations of the same disorder, namely CRMCC, molecular evidence has excluded mutations in the CTC1 gene in patients with Labrune syndrome, suggesting that the 2 disorders are not allelic (Anderson et al., 2012; Polvi et al., 2012).
Some features of CRMCC resemble those observed in dyskeratosis congenita (see, e.g., 127550), which is a clinically and genetically heterogeneous telomere-related genetic disorder.
Genetic Heterogeneity of Cerebroretinal Microangiopathy with Calcifications and Cysts
See also CRMCC2 (617341), caused by mutation in the STN1 gene (613128) on chromosome 10q24; and CRMCC3 (620368), caused by mutation in the POT1 gene (606478) on chromosome 7q31.|OMIM|N|
C2677325|A retinitis pigmentosa that has material basis in variation in the chromosome region 4q32-q34.|MONDO|N|
C2677326|STXBP1 encephalopathy with epilepsy is characterized by early-onset encephalopathy with epilepsy (i.e., moderate-to-severe intellectual disability, refractory seizures, and ongoing epileptiform activity). The median age of onset of seizures is six weeks (range 1 day to 13 years). Seizure types can include infantile spasms; generalized tonic-clonic, clonic, or tonic seizures; and myoclonic, focal, atonic, and absence seizures. Epilepsy syndromes can include Ohtahara syndrome, West syndrome, Lennox-Gaustaut syndrome, and Dravet syndrome (not SCN1A-related), classic Rett syndrome (not MECP2-related), and atypical Rett syndrome (not CDKL5-related). The EEG is characterized by focal epileptic activity, burst suppression, hypsarrhythmia, or generalized spike-and-slow waves. Other findings can include abnormal tone, movement disorders (especially ataxia and dystonia), and behavior disorders (including autism spectrum disorder). Feeding difficulties are common.|GeneReviews|N|
C2677328|Reduced amount of myelin in the nervous system resulting from defective myelinogenesis in the white matter of the central nervous system.|HPO|N|
C2677336|Rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death. Several risk factors such as smoking, hypertension, and excessive alcohol intake are associated with subarachnoid hemorrhage (summary by Krischek and Inoue, 2006).
For a discussion of genetic heterogeneity of intracranial berry aneurysm, see ANIB1 (105800).|OMIM|N|
C2677337|Rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death. Several risk factors such as smoking, hypertension, and excessive alcohol intake are associated with subarachnoid hemorrhage (summary by Krischek and Inoue, 2006).
For a discussion of genetic heterogeneity of intracranial berry aneurysm, see ANIB1 (105800).|OMIM|N|
C2677338|Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the ACTN2 gene.|MONDO|N|
C2677349|Epidermolysis bullosa simplex 5C with pyloric atresia (EBS5C) is an autosomal recessive genodermatosis characterized by severe skin blistering at birth and congenital pyloric atresia. Death usually occurs in infancy. In reports of 2 consensus meetings for EB, Fine et al. (2000, 2008) considered EBSPA to be a 'basal' form of simplex EB because the electron microscopy shows that skin cleavage occurs in the lower basal level of the keratinocyte, just above the hemidesmosome. There is often decreased integration of keratin filaments with hemidesmosomes.
See also forms of junctional EB with pyloric atresia, JEB5B (226730) and JEB6 (619817), caused by mutation in the ITGB4 (147557) and ITGA6 (147556) genes, respectively.
For a discussion of genetic heterogeneity of the subtypes of EBS, see EBS1A (131760).|OMIM|N|
C2677362|A developmental defect of the alveolar airspace during cananicular lung development characterized by a decreased number of pulmonary capillaries located away from the alveolar epithelium, thickened alveolar septae, media hypertrophy of small pulmonary arteries and muscularization of distal arterioles, and in some cases lymphangiectasis.|HPO|N|
C2677434|Congenital 'healed' cleft lip (CHCL) is an unusual anomaly consisting of a paramedian 'scar' of the upper lip with an appearance suggesting that a typical cleft lip was corrected in utero. The CHCL is frequently associated with an ipsilateral notch in the vermilion border and a 'collapsed' nostril (Castilla and Martinez-Frias, 1995).
For a phenotypic description and a discussion of genetic heterogeneity of nonsyndromic cleft lip with or without cleft palate, see OFC1 (119530).|OMIM|N|
C2677481|EDAID2 is characterized by variable features of ectodermal dysplasia (e.g., hypo/anhidrosis, sparse hair, tooth anomalies) and various immunologic and infectious phenotypes of differing severity (summary by Boisson et al., 2017). Some patients may also have neutrophilia and autoinflammatory disease, such as liver disease (Tan et al., 2020).
Mutations in the NFKBIA gene result in functional impairment of NFKB (see 164011), a master transcription factor required for normal activation of immune responses. Interruption of NFKB signaling results in decreased production of proinflammatory cytokines and certain interferons, rendering patients susceptible to infection (McDonald et al., 2007).
For discussion of genetic heterogeneity of ectodermal dysplasia and immune deficiency, see 300291.|OMIM|N|
C2677485|Absence of the sweat glands.|HPO|N|
C2677491|Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the CSRP3 gene.|MONDO|N|
C2677500|Oculoauricular syndrome (OCACS) is characterized by complex ocular anomalies, including congenital cataract, anterior segment dysgenesis, iris coloboma, and early-onset retinal dystrophy, and dysplastic ears with abnormal external ear cartilage (summary by Gillespie et al., 2015).|OMIM|N|
C2677501|Glucose is the major source of energy in humans, with levels in vivo determined by a balance of glucose absorption via the gut, production primarily by the liver, and utilization by both insulin-sensitive and insulin-insensitive tissues. Blood and plasma fasting glucose levels are tightly regulated within a narrow physiologic range by a feedback mechanism that targets a particular fasting glucose set point for each individual. Within healthy, nondiabetic populations there is substantial variation in fasting glucose levels. Approximately one-third of this variation is genetic. Disruption of normal glucose homeostasis and substantial elevations of fasting glucose are hallmarks of type 2 diabetes (T2D) and typically result from sustained reduction in pancreatic beta-cell function and insulin secretion (summary by Chen et al., 2008 and Prokopenko et al., 2009).
Genetic Heterogeneity
Genetic loci influencing fasting plasma glucose have been identified on 2q24-q32 (FGQTL1), related to single-nucleotide polymorphisms (SNPs) in the vicinity of the G6PC2 gene (608058); on 7p15-p13 (FGQTL2; 613219), related to SNPs in the vicinity of the glucokinase gene (GCK; 138079); on 11q21-q22 (FGQTL3; 613233), related to SNPs in the vicinity of the MTNR1B gene (600804); on 7p21.2 (FGQTL4; 613462), in the vicinity of the DGKB gene (604070); on 2p23.3-p23.2 (FGQTL5; 613463) due to variation in the GCKR gene (600842); and on 3q21 (FGQTL6; 613460), in the vicinity of the ADCY5 gene (600293).
See 613219 for a discussion of birth weight as a quantitative trait, another glycemic-influenced trait with an effect on T2D risk. See also 606035 for a discussion of a fasting insulin quantitative trait locus on chromosome 6q22-q24.|OMIM|N|
C2677504|Autism, the prototypic pervasive developmental disorder (PDD), is usually apparent by 3 years of age. It is characterized by a triad of limited or absent verbal communication, a lack of reciprocal social interaction or responsiveness, and restricted, stereotypic, and ritualized patterns of interests and behavior (Bailey et al., 1996; Risch et al., 1999). 'Autism spectrum disorder,' sometimes referred to as ASD, is a broader phenotype encompassing the less severe disorders Asperger syndrome (see ASPG1; 608638) and pervasive developmental disorder, not otherwise specified (PDD-NOS). 'Broad autism phenotype' includes individuals with some symptoms of autism, but who do not meet the full criteria for autism or other disorders. Mental retardation coexists in approximately two-thirds of individuals with ASD, except for Asperger syndrome, in which mental retardation is conspicuously absent (Jones et al., 2008). Genetic studies in autism often include family members with these less stringent diagnoses (Schellenberg et al., 2006).
For a discussion of genetic heterogeneity of autism, see 209850.|OMIM|N|
C2677505|Multiple familial trichoepithelioma (MFT) is an autosomal dominant disorder of skin appendage tumors characterized by the appearance of trichoepitheliomas.
See also MFT1 (601606), which is caused by mutations in the CYLD gene (605018) on chromosome 16q12-q13.|OMIM|N|
C2677506|An autosomal dominant subtype of familial hypertrophic cardiomyopathy caused by mutation(s) in the ACTC1 gene, encoding actin, alpha cardiac muscle 1.|NCI|N|
C2677516|Any retinitis pigmentosa in which the cause of the disease is a mutation in the PROM1 gene.|MONDO|N|
C2677535|Alopecia, neurologic defects, and endocrinopathy syndrome (ANES) is an autosomal recessive disorder characterized by alopecia with skin involvement including multiple facial nevi and flexural hyperpigmentation; moderately to severely impaired intellectual development; progressive motor decline; and endocrine deficiency (summary by Spiegel et al., 2010).|OMIM|N|
C2677549|Renal hypouricemia is a common inherited disorder characterized by impaired renal urate reabsorption and subsequent low serum urate levels. It may be associated with severe complications such as exercise-induced acute renal failure (EIARF) and nephrolithiasis (summary by Matsuo et al., 2008).
For additional phenotypic information and a discussion of genetic heterogeneity of renal hypouricemia, see RHUC1 (220150).|OMIM|N|
C2677565|A neurodegenerative disease with characteristics of progressive muscular paralysis reflecting degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem and spinal cord. There is evidence this disease is caused by heterozygous mutation in the TARDBP gene that encodes the TDP43 protein on chromosome 1p36.|SNOMEDCT_US|N|
C2677567|Dystonia 16 is one of many forms of dystonia, which is a group of conditions characterized by involuntary movements, twisting (torsion) and tensing of various muscles, and unusual positioning of affected body parts. Dystonia 16 can appear at any age from infancy through adulthood, although it most often begins in childhood.\n\nThe signs and symptoms of dystonia 16 vary among people with the condition. In many affected individuals, the disorder first affects muscles in one or both arms or legs. Tensing (contraction) of the muscles often sets the affected limb in an abnormal position, which may be painful and can lead to difficulty performing tasks, such as walking. In others, muscles in the neck are affected first, causing the head to be pulled backward and positioned with the chin in the air (retrocollis).\n\nIn dystonia 16, muscles of the jaw, lips, and tongue are also commonly affected (oromandibular dystonia), causing difficulty opening and closing the mouth and problems with swallowing and speech. Speech can also be affected by involuntary tensing of the muscles that control the vocal cords (laryngeal dystonia), resulting in a quiet, breathy voice or an inability to speak clearly. Dystonia 16 gradually gets worse, eventually involving muscles in most parts of the body.\n\nSome people with dystonia 16 develop a pattern of movement abnormalities known as parkinsonism. These abnormalities include unusually slow movement (bradykinesia), muscle rigidity, tremors, and an inability to hold the body upright and balanced (postural instability). In dystonia 16, parkinsonism is relatively mild if it develops at all.\n\nThe signs and symptoms of dystonia 16 usually do not get better when treated with drugs that are typically used for movement disorders.|MedlinePlus Genetics|N|
C2677576|Recombination plays a crucial role in meiosis, ensuring the proper segregation of chromosomes. Linkage disequilibrium (LD) and sperm typing studies suggested that recombination rates vary tremendously across the human genome, with most events occurring in narrow hotspots (Coop et al., 2008).
To examine variation in fine-scale recombination patterns among individuals, Coop et al. (2008) used dense genomewide nucleotide polymorphism data collected in nuclear families to localize crossovers with high spatial resolution. This analysis revealed that overall recombination hotspot usage is similar in males and females, with individual hotspots often active in both sexes. Across the genome, roughly 60% of crossovers occurred in hotspots inferred from LD studies (on chromosomes 17, 19, 10, and 11). Notably, however, Coop et al. (2008) found extensive and heritable variation among both males and females in the proportion of crossovers occurring in these hotspots.|OMIM|N|
C2677586|PNPLA6 disorders span a phenotypic continuum characterized by variable combinations of cerebellar ataxia; upper motor neuron involvement manifesting as spasticity and/or brisk reflexes; chorioretinal dystrophy associated with variable degrees of reduced visual function; and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). The hypogonadotropic hypogonadism occurs either in isolation or as part of anterior hypopituitarism (growth hormone, thyroid hormone, or gonadotropin deficiencies). Common but less frequent features are peripheral neuropathy (usually of axonal type manifesting as reduced distal reflexes, diminished vibratory sensation, and/or distal muscle wasting); hair anomalies (long eyelashes, bushy eyebrows, or scalp alopecia); short stature; and impaired cognitive functioning (learning disabilities in children; deficits in attention, visuospatial abilities, and recall in adults). Some of these features can occur in distinct clusters on the phenotypic continuum: Boucher-Neuhäuser syndrome (cerebellar ataxia, chorioretinal dystrophy, and hypogonadotropic hypogonadism); Gordon Holmes syndrome (cerebellar ataxia, hypogonadotropic hypogonadism, and – to a variable degree – brisk reflexes); Oliver-McFarlane syndrome (trichomegaly, chorioretinal dystrophy, short stature, intellectual disability, and hypopituitarism); Laurence-Moon syndrome; and spastic paraplegia type 39 (SPG39) (upper motor neuron involvement, peripheral neuropathy, and sometimes reduced cognitive functioning and/or cerebellar ataxia).|GeneReviews|N|
C2677589|Primary coenzyme Q10 (CoQ10) deficiency is usually associated with multisystem involvement, including neurologic manifestations such as fatal neonatal encephalopathy with hypotonia; a late-onset slowly progressive multiple-system atrophy-like phenotype (neurodegeneration with autonomic failure and various combinations of parkinsonism and cerebellar ataxia, and pyramidal dysfunction); and dystonia, spasticity, seizures, and intellectual disability. Steroid-resistant nephrotic syndrome (SRNS), the hallmark renal manifestation, is often the initial manifestation either as isolated renal involvement that progresses to end-stage renal disease (ESRD), or associated with encephalopathy (seizures, stroke-like episodes, severe neurologic impairment) resulting in early death. Hypertrophic cardiomyopathy (HCM), retinopathy or optic atrophy, and sensorineural hearing loss can also be seen.|GeneReviews|N|
C2677590|Congenital disorders of glycosylation (CDGs) are a genetically heterogeneous group of autosomal recessive disorders caused by enzymatic defects in the synthesis and processing of asparagine (N)-linked glycans or oligosaccharides on glycoproteins. Type I CDGs comprise defects in the assembly of the dolichol lipid-linked oligosaccharide (LLO) chain and its transfer to the nascent protein. These disorders can be identified by a characteristic abnormal isoelectric focusing profile of plasma transferrin (Leroy, 2006).
For a discussion of the classification of CDGs, see CDG1A (212065).|OMIM|N|
C2677601|Celiac disease, also known as celiac sprue and gluten-sensitive enteropathy, is a multifactorial disorder of the small intestine that is influenced by both environmental and genetic factors. It is characterized by malabsorption resulting from inflammatory injury to the mucosa of the small intestine after the ingestion of wheat gluten or related rye and barley proteins (summary by Farrell and Kelly, 2002).
For additional information and a discussion of genetic heterogeneity of celiac disease, see 212750.|OMIM|N|
C2677602|Celiac disease, also known as celiac sprue and gluten-sensitive enteropathy, is a multifactorial disorder of the small intestine that is influenced by both environmental and genetic factors. It is characterized by malabsorption resulting from inflammatory injury to the mucosa of the small intestine after the ingestion of wheat gluten or related rye and barley proteins (summary by Farrell and Kelly, 2002).
For additional information and a discussion of genetic heterogeneity of celiac disease, see 212750.|OMIM|N|
C2677603|Celiac disease, also known as celiac sprue and gluten-sensitive enteropathy, is a multifactorial disorder of the small intestine that is influenced by both environmental and genetic factors. It is characterized by malabsorption resulting from inflammatory injury to the mucosa of the small intestine after the ingestion of wheat gluten or related rye and barley proteins (summary by Farrell and Kelly, 2002).
For additional information and a discussion of genetic heterogeneity of celiac disease, see 212750.|OMIM|N|
C2677604|Celiac disease, also known as celiac sprue and gluten-sensitive enteropathy, is a multifactorial disorder of the small intestine that is influenced by both environmental and genetic factors. It is characterized by malabsorption resulting from inflammatory injury to the mucosa of the small intestine after the ingestion of wheat gluten or related rye and barley proteins (summary by Farrell and Kelly, 2002).
For additional information and a discussion of genetic heterogeneity of celiac disease, see 212750.|OMIM|N|
C2677605|Celiac disease, also known as celiac sprue and gluten-sensitive enteropathy, is a multifactorial disorder of the small intestine that is influenced by both environmental and genetic factors. It is characterized by malabsorption resulting from inflammatory injury to the mucosa of the small intestine after the ingestion of wheat gluten or related rye and barley proteins (summary by Farrell and Kelly, 2002).
For additional information and a discussion of genetic heterogeneity of celiac disease, see 212750.|OMIM|N|
C2677606|Celiac disease, also known as celiac sprue and gluten-sensitive enteropathy, is a multifactorial disorder of the small intestine that is influenced by both environmental and genetic factors. It is characterized by malabsorption resulting from inflammatory injury to the mucosa of the small intestine after the ingestion of wheat gluten or related rye and barley proteins (summary by Farrell and Kelly, 2002).
For additional information and a discussion of genetic heterogeneity of celiac disease, see 212750.|OMIM|N|
C2677607|Celiac disease, also known as celiac sprue and gluten-sensitive enteropathy, is a multifactorial disorder of the small intestine that is influenced by both environmental and genetic factors. It is characterized by malabsorption resulting from inflammatory injury to the mucosa of the small intestine after the ingestion of wheat gluten or related rye and barley proteins (summary by Farrell and Kelly, 2002).
For additional information and a discussion of genetic heterogeneity of celiac disease, see 212750.|OMIM|N|
C2677608|Any thrombocytopenia in which the cause of the disease is a mutation in the CYCS gene.|MONDO|N|
C2677613|Individuals with the 15q13.3 recurrent deletion may have a wide range of clinical manifestations. The deletion itself may not lead to a clinically recognizable syndrome and a subset of persons with the recurrent deletion have no obvious clinical findings, implying that penetrance for the deletion is incomplete. A little over half of individuals diagnosed with this recurrent deletion have intellectual disability or developmental delay, mainly in the areas of speech acquisition and cognitive function. In the majority of individuals, cognitive impairment is mild. Other features reported in diagnosed individuals include epilepsy (in ~30%), mild hypotonia, and neuropsychiatric disorders (including autism spectrum disorder, attention-deficit/hyperactivity disorder, mood disorder, schizophrenia, and aggressive or self-injurious behavior). Congenital malformations are uncommon.|GeneReviews|N|
C2677614|A schizophrenia that has material basis in a mutation on chromosome 2q32.1.|MONDO|N|
C2677632|A hemisacral defect involving the sacral vertebrae S2 to S5. In hemisacrum, the first sacral vertebra is intact and there is agenesis involving only S2-S5.|HPO|N|
C2677637|DFNA2 nonsyndromic hearing loss is characterized by symmetric, predominantly high-frequency sensorineural hearing loss (SNHL) that is progressive across all frequencies. At younger ages, hearing loss tends to be mild in the low frequencies and moderate in the high frequencies; in older persons, the hearing loss is moderate in the low frequencies and severe to profound in the high frequencies. Although the hearing impairment is often detected during routine hearing assessment of a school-age child, it is likely that hearing is impaired from birth, especially at high frequencies. Most affected persons initially require hearing aids to assist with sound amplification between ages ten and 40 years. By age 70 years, all persons with DFNA2 nonsyndromic hearing loss have severe-to-profound hearing impairment.|GeneReviews|N|
C2677650|A reduction in the activity of the mitochondrial respiratory chain complex I, which is part of the electron transport chain in mitochondria.|HPO|N|
C2677768|A persistent left superior vena cava (PLSVC) that drains into the right atrium via the coronary sinus. This is the case in 80-92% of cases of PLSVC and results in no hemodynamic consequence.|HPO|N|
C2677770|Asthma-related traits include clinical symptoms of asthma, such as coughing, wheezing, and dyspnea; bronchial hyperresponsiveness (BHR) as assessed by methacholine challenge test; serum IgE levels; atopy; and atopic dermatitis (Laitinen et al., 2001; Illig and Wjst, 2002; Pillai et al., 2006).
For a general phenotypic description and a discussion of genetic heterogeneity of asthma, see 600807.|OMIM|N|
C2677774|Age-related macular degeneration is an eye disease that is a leading cause of vision loss in older people in developed countries. Subtle abnormalities indicating changes in vision may occur in a person's forties or fifties. Distorted vision and vision loss usually become noticeable in a person's sixties or seventies and tend to worsen over time.\n\nAge-related macular degeneration mainly affects central vision, which is needed for detailed tasks such as reading, driving, and recognizing faces. The vision loss in this condition results from a gradual deterioration of light-sensing cells in the tissue at the back of the eye that detects light and color (the retina). Specifically, age-related macular degeneration affects a small area near the center of the retina, called the macula, which is responsible for central vision. Side (peripheral) vision and night vision are generally not affected, but slow adjustment of vision to darkness (dark adaptation) and reduced dim light (scotopic) vision often occur in the early stages of the disease.\n\nIn 10 to 15 percent of affected individuals, the dry form progresses to the wet form of age-related macular degeneration. The wet form is characterized by the growth of abnormal, fragile blood vessels underneath the macula. These vessels leak blood and fluid, which damages the macula and makes central vision appear blurry and distorted. The wet form of age-related macular degeneration is associated with severe vision loss that can worsen rapidly.\n\nResearchers have described two major types of age-related macular degeneration, known as the dry form and the wet form. The dry form is much more common, accounting for 85 to 90 percent of all cases of age-related macular degeneration. It is characterized by a buildup of yellowish deposits called drusen beneath the retina and vision loss that worsens slowly over time. The most advanced stage of dry age-related macular degeneration is known as geographic atrophy, in which areas of the macula waste away (atrophy), resulting in severe vision loss. Dry age-related macular degeneration typically affects vision in both eyes, although vision loss often occurs in one eye before the other.|MedlinePlus Genetics|N|
C2677792|RIDDLE is an acronym for the major features of this syndrome: radiosensitivity, immunodeficiency, dysmorphic facies, and learning difficulties (Stewart et al., 2007).|OMIM|N|
C2677794|Catecholaminergic polymorphic ventricular tachycardia (CPVT) is characterized by episodic syncope occurring during exercise or acute emotion. The underlying cause of these episodes is the onset of fast ventricular tachycardia (bidirectional or polymorphic). Spontaneous recovery may occur when these arrhythmias self-terminate. In other instances, ventricular tachycardia may degenerate into ventricular fibrillation and cause sudden death if cardiopulmonary resuscitation is not readily available. The mean onset of symptoms (usually a syncopal episode) is between age seven and 12 years; onset as late as the fourth decade of life has been reported. If untreated, CPVT is highly lethal, as approximately 30% of affected individuals experience at least one cardiac arrest and up to 80% have one or more syncopal spells. Sudden death may be the first manifestation of the disease.|GeneReviews|N|
C2677809|A rare genetic bone development disorder with characteristics of hand camptodactyly associated with facial dysmorphism (flat face, hypertelorism, telecanthus, symblepharon, simplified ears, retrognathia) and neck anomalies (short neck with pterygia, muscle sclerosis). Additional features include spinal defects (e.g. cervical and dorso-lumbar spina bifida occulta), congenital shortness of the sternocleidomastoid muscle, flexed wrists and thin hands and feet. Brain structural anomalies, multiple nevi, micropenis and mild intellectual disability are also observed. Imaging reveals widened femoral necks, cortical thickening of long bones and delayed bone age.|SNOMEDCT_US|N|
C2677821|Prostate cancer is a common disease that affects men, usually in middle age or later. In this disorder, certain cells in the prostate become abnormal, multiply without control or order, and form a tumor. The prostate is a gland that surrounds the male urethra and helps produce semen, the fluid that carries sperm.\n\nEarly prostate cancer usually does not cause pain, and most affected men exhibit no noticeable symptoms. Men are often diagnosed as the result of health screenings, such as a blood test for a substance called prostate specific antigen (PSA) or a medical exam called a digital rectal exam (DRE). As the tumor grows larger, signs and symptoms can include difficulty starting or stopping the flow of urine, a feeling of not being able to empty the bladder completely, blood in the urine or semen, or pain with ejaculation. However, these changes can also occur with many other genitourinary conditions. Having one or more of these symptoms does not necessarily mean that a man has prostate cancer.\n\nThe severity and outcome of prostate cancer varies widely. Early-stage prostate cancer can usually be treated successfully, and some older men have prostate tumors that grow so slowly that they may never cause health problems during their lifetime, even without treatment. In other men, however, the cancer is much more aggressive; in these cases, prostate cancer can be life-threatening.\n\nSome cancerous tumors can invade surrounding tissue and spread to other parts of the body. Tumors that begin at one site and then spread to other areas of the body are called metastatic cancers. The signs and symptoms of metastatic cancer depend on where the disease has spread. If prostate cancer spreads, cancerous cells most often appear in the lymph nodes, bones, lungs, liver, or brain. \n\nA small percentage of prostate cancers are hereditary and occur in families. These hereditary cancers are associated with inherited gene variants. Hereditary prostate cancers tend to develop earlier in life than non-inherited (sporadic) cases.|MedlinePlus Genetics|N|
C2677843|Episodic ataxia is a group of related conditions that affect the nervous system and cause problems with movement and coordination. People with episodic ataxia have episodes of poor coordination and balance (ataxia). During these episodes, many people also experience dizziness (vertigo), nausea and vomiting, migraines, blurred or double vision, slurred speech, and ringing in the ears (tinnitus). Seizures, muscle weakness, and paralysis that affect one side of the body (hemiplegia) may also occur during these episodes. \n\nEpisodes of ataxia and other symptoms can begin anytime from early childhood to adulthood. They can be triggered by environmental factors such as stress, caffeine, alcohol, certain medications, physical activity, and illness. The duration of episodes may vary from seconds to days, and the frequency ranges from several episodes per day to one or two every few months. Between episodes, affected individuals may have no signs or symptoms. However, some  continue to experience ataxia, which may worsen over time.\n\nAdditionally, a muscle abnormality called myokymia or an eye abnormality called nystagmus can occur during or between episodes. Myokymia causes muscle cramping; stiffness; or continuous, fine muscle twitching that appears as rippling under the skin. Nystagmus refers to rapid, involuntary eye movements.\n\nResearchers have identified at least 11 types of episodic ataxia, distinguished by their pattern of signs and symptoms, age of onset, length of episodes, and genetic cause.\n\nSome children with episodic ataxia have delayed development of speech or motor skills, such as standing and walking. They may also have learning difficulties.|MedlinePlus Genetics|N|
C2677877|Pulmonary alveolar proteinosis (PAP) is a rare lung disorder in which surfactant-derived lipoproteins accumulate excessively within pulmonary alveoli, causing severe respiratory distress. Three forms of PAP have been described: hereditary (usually congenital), secondary, and acquired. Hereditary PAP is associated with mutations in the CSF2RA gene or in genes encoding surfactant proteins. Secondary PAP develops in conditions in which there are reduced numbers or functional impairment of alveolar macrophages and is associated with inhalation of inorganic dust (silica) or toxic fumes, hematologic malignancies, pharmacologic immunosuppression, infections, and impaired CSF2RB (138960) expression. Acquired PAP (610910), the most common form, usually occurs in adults and is caused by neutralizing autoantibodies to CSF2 (138960) (Martinez-Moczygemba et al., 2008).
For a general phenotypic description and a discussion of genetic heterogeneity of congenital pulmonary surfactant metabolism dysfunction, see SMDP1 (265120).|OMIM|N|
C2677888|An Alzheimer's disease that is characterized by an associated with a risk allele in in the PCDH11X gene on chromosome Xq21.3.|MONDO|N|
C2677889|X-linked protoporphyria (XLP) is characterized in affected males by cutaneous photosensitivity (usually beginning in infancy or childhood) that results in tingling, burning, pain, and itching within minutes of sun/light exposure and may be accompanied by swelling and redness. Blistering lesions are uncommon. Pain, which may seem out of proportion to the visible skin lesions, may persist for hours or days after the initial phototoxic reaction. Photosensitivity is lifelong. Multiple episodes of acute photosensitivity may lead to chronic changes of sun-exposed skin (lichenification, leathery pseudovesicles, grooving around the lips) and loss of lunulae of the nails. An unknown proportion of individuals with XLP develop liver disease. Except for those with advanced liver disease, life expectancy is not reduced. The phenotype in heterozygous females ranges from asymptomatic to as severe as in affected males.|GeneReviews|N|
C2677897|A pure form of hereditary spastic paraplegia with late childhood to early adulthood-onset of slowly progressive spastic paraplegia with spastic gait and lower limb hyperreflexia, brisk tendon reflexes and ankle clonus. Lower limb pain and reduced lower limb vibratory sense is also reported in some older adult patients.|SNOMEDCT_US|N|
C2677903|CASK disorders include a spectrum of phenotypes in both females and males. Two main types of clinical presentation are seen: Microcephaly with pontine and cerebellar hypoplasia (MICPCH), generally associated with pathogenic loss-of-function variants in CASK. X-linked intellectual disability (XLID) with or without nystagmus, generally associated with hypomorphic CASK pathogenic variants. MICPCH is typically seen in females with moderate-to-severe intellectual disability, progressive microcephaly with or without ophthalmologic anomalies, and sensorineural hearing loss. Most are able to sit independently; 20%-25% attain the ability to walk; language is nearly absent in most. Neurologic features may include axial hypotonia, hypertonia/spasticity of the extremities, and dystonia or other movement disorders. Nearly 40% have seizures by age ten years. Behaviors may include sleep disturbances, hand stereotypies, and self biting. MICPCH in males may occur with or without severe epileptic encephalopathy in addition to severe-to-profound developmental delay. When seizures are present they occur early and may be intractable. In individuals and families with milder (i.e., hypomorphic) pathogenic variants, the clinical phenotype is usually that of XLID with or without nystagmus and additional clinical features. Males have mild-to-severe intellectual disability, with or without nystagmus and other ocular features. Females typically have normal intelligence with some displaying mild-to-severe intellectual disability with or without ocular features.|GeneReviews|N|
C2678036|X-linked intellectual disability-craniofacioskeletal syndrome is a rare, hereditary, syndromic intellectual disability characterized by craniofacial and skeletal abnormalities in association with mild intellectual disability in females and early postnatal lethality in males. In addition to mild cognitive impairment, females present with microcephaly, short stature, skeletal features and extra temporal lobe gyrus. In males, intrauterine growth impairment, cardiac and urogenital anomalies have been reported.|ORDO|N|
C2678039|An X-linked syndromic intellectual disability characterised by severe intellectual disability, microcephaly and short stature in male patients. Strabismus and spastic diplegia have also been described.|ORDO|N|
C2678045|Syndrome with the association of toe syndactyly, facial dysmorphism including telecanthus and a broad nasal tip, urogenital malformations and anal atresia. Around ten cases have been reported so far. The syndrome is caused by mutations in the FAM58A gene (located on the X chromosome) encoding a protein of unknown function.|SNOMEDCT_US|N|
C2678046|Turner-type X-linked syndromic intellectual developmental disorder (MRXST) is a neurodevelopmental disorder with a highly variable phenotype. Some affected families show X-linked recessive inheritance, with only males being affected and carrier females having no abnormal findings. In other affected families, males are severely affected, and female mutation carriers show milder cognitive abnormalities or dysmorphic features. In addition, there are female patients with de novo mutations who show the full phenotype, despite skewed X-chromosome inactivation. Affected individuals show global developmental delay from infancy, with variably impaired intellectual development and poor or absent speech, often with delayed walking. Dysmorphic features are common and can include macrocephaly, microcephaly, deep-set eyes, hypotelorism, small palpebral fissures, dysplastic, large, or low-set ears, long face, bitemporal narrowing, high-arched palate, thin upper lip, and scoliosis or mild distal skeletal anomalies, such as brachydactyly or tapered fingers. Males tend to have cryptorchidism. Other features, such as hypotonia, seizures, and delayed bone age, are more variable (summary by Moortgat et al., 2018).|OMIM|N|
C2678048|X-linked non progressive cerebellar ataxia is a rare hereditary ataxia characterized by delayed early motor development, severe neonatal hypotonia, non-progressive ataxia and slow eye movements, presenting normal cognitive abilities and absence of pyramidal signs. Frequently patients also manifest intention tremor, mild dysphagia, and dysarthria. Brain MRI reveals global cerebellar atrophy with absence of other malformations or degenerations of the central and peripheral nervous systems.|ORDO|N|
C2678051|A syndromic X-linked intellectual disability characterized by moderate intellectual disability with variable occurrence of asthenic body habitus, dysmorphic features, autistic features, macrocephaly, seizures, myoclonic jerks, and hyporeflexia that has material basis in mutation in the GRIA3 gene on chromosome Xq25.|MONDO|N|
C2678055|Emery-Dreifuss muscular dystrophy (EDMD) is characterized by the clinical triad of: joint contractures that begin in early childhood; slowly progressive muscle weakness and wasting initially in a humero-peroneal distribution that later extends to the scapular and pelvic girdle muscles; and cardiac involvement that may manifest as palpitations, presyncope and syncope, poor exercise tolerance, and congestive heart failure along with variable cardiac rhythm disturbances. Age of onset, severity, and progression of muscle and cardiac involvement demonstrate both inter- and intrafamilial variability. Clinical variability ranges from early onset with severe presentation in childhood to late onset with slow progression in adulthood. In general, joint contractures appear during the first two decades, followed by muscle weakness and wasting. Cardiac involvement usually occurs after the second decade and respiratory function may be impaired in some individuals.|GeneReviews|N|
C2678061|A rare, genetic, muscular dystrophy disease characterized by the co-occurrence of late onset scapular and peroneal muscle weakness, principally manifesting with distal lower limb and proximal upper limb weakness and scapular winging.|ORDO|N|
C2678065|Other signs and symptoms of myofibrillar myopathy can include a weakened heart muscle (cardiomyopathy), muscle pain (myalgia), loss of sensation and weakness in the limbs (peripheral neuropathy), and respiratory failure. Individuals with this condition may have skeletal problems including joint stiffness (contractures) and abnormal side-to-side curvature of the spine (scoliosis). Rarely, people with this condition develop clouding of the lens of the eyes (cataracts).\n\nThe signs and symptoms of myofibrillar myopathy vary widely among affected individuals, typically depending on the condition's genetic cause. Most people with this disorder begin to develop muscle weakness (myopathy) in mid-adulthood. However, features of this condition can appear anytime between infancy and late adulthood. Muscle weakness most often begins in the hands and feet (distal muscles), but some people first experience weakness in the muscles near the center of the body (proximal muscles). Other affected individuals develop muscle weakness throughout their body. Facial muscle weakness can cause swallowing and speech difficulties. Muscle weakness worsens over time.\n\nMyofibrillar myopathy is part of a group of disorders called muscular dystrophies that affect muscle function and cause weakness. Myofibrillar myopathy primarily affects skeletal muscles, which are muscles that the body uses for movement. In some cases, the heart (cardiac) muscle is also affected.|MedlinePlus Genetics|N|
C2678098|Hypospadias is a common congenital malformation of the penis, affecting approximately 1 in 750 births in Europe. Due to developmental arrest of urethral fusion, the urethral opening is displaced along the ventral side of the penis. The opening can be located glanular, penile, or even more posterior in the scrotum or perineum. Although most children with this condition undergo surgery in their second year of life, serious medical, social, and sexual problems may still exist later in life (summary by van der Zanden et al., 2011). Hypospadias is a feature of several syndromic disorders, including the androgen insensitivity syndrome (300068) and Opitz syndrome (300000).
Genetic Heterogeneity of Hypospadias
See also HYSP2 (300758), caused by mutation in the MAMLD1 gene (300120) on chromosome Xq28; HYSP3 (146450), a familial form which has been mapped to chromosome 7q32.2-q36.1; and HYSP4 (300856), a susceptibility locus mapped to chromosome Xp11.22 and associated with variation in the DGKK gene (300837).|OMIM|N|
C2678104|Periventricular heterotopia is a condition in which nerve cells (neurons) do not migrate properly during the early development of the fetal brain, from about the 6th week to the 24th week of pregnancy. Heterotopia means "out of place." In normal brain development, neurons form in the periventricular region, located around fluid-filled cavities (ventricles) near the center of the brain. The neurons then migrate outward to form the exterior of the brain (cerebral cortex) in six onion-like layers. In periventricular heterotopia, some neurons fail to migrate to their proper position and form clumps around the ventricles.\n\nPeriventricular heterotopia usually becomes evident when seizures first appear, often during the teenage years. The nodules around the ventricles are then typically discovered when magnetic resonance imaging (MRI) studies are done. Affected individuals usually have normal intelligence, although some have mild intellectual disability. Difficulty with reading and spelling (dyslexia) and movement problems have been reported in some people with periventricular heterotopia.\n\nLess commonly, individuals with periventricular heterotopia may have other features including more severe brain malformations, small head size (microcephaly), developmental delays, recurrent infections, blood vessel abnormalities, stomach problems, or lung disease. Periventricular heterotopia may also occur in association with other conditions such as Ehlers-Danlos syndrome, which results in extremely flexible joints, skin that stretches easily, and fragile blood vessels.|MedlinePlus Genetics|N|
C2678194|Christianson syndrome (referred to as CS in this GeneReview), an X-linked disorder, is characterized in males by cognitive dysfunction, behavioral disorder, and neurologic findings (e.g., seizures, ataxia, postnatal microcephaly, and eye movement abnormalities). Males with CS typically present with developmental delay, later meeting criteria for severe intellectual disability (ID). Behaviorally, autism spectrum disorder and hyperactivity are common, and may resemble the behaviors observed in Angelman syndrome. Hypotonia and oropharyngeal dysphagia in infancy may result in failure to thrive. Seizures, typically beginning before age three years, can include infantile spasms and tonic, tonic-clonic, myoclonic, and atonic seizures. Subsequently, regression (e.g., loss of ambulation and ability to feed independently) may occur. Manifestations in heterozygous females range from asymptomatic to mild ID and/or behavioral issues.|GeneReviews|N|
C2678311|Thrombocytopenia-3 (THC3) is an autosomal recessive hematologic disorder characterized by onset of small-platelet thrombocytopenia in infancy. Patients may show variable bleeding tendency, manifest as petechiae, epistaxis, or heavy menstrual bleeding (summary by Levin et al., 2015).
For a general phenotypic description and a discussion of genetic heterogeneity of thrombocytopenia, see 313900.|OMIM|N|
C2678312|Three M syndrome is characterized by severe pre- and postnatal growth deficiency (final height 5-6 SD below the mean; i.e., 120-130 cm), characteristic facies, and normal intelligence. Additional features of three M syndrome include short broad neck, prominent trapezii, deformed sternum, short thorax, square shoulders, winged scapulae, hyperlordosis, short fifth fingers, prominent heels, and loose joints. Males with three M syndrome have hypogonadism and occasionally hypospadias.|GeneReviews|N|
C2678323|A partial dislocation of the intervertebral joint between the second and third cervical vertebrae.|HPO|N|
C2678330|Tooth root length more than 2 SD below mean, or subjectively apparently decreased tooth root length.|HPO|N|
C2678338|Hereditary spherocytosis is a condition that affects red blood cells. People with this condition typically experience a shortage of red blood cells (anemia), yellowing of the eyes and skin (jaundice), and an enlarged spleen (splenomegaly). Most newborns with hereditary spherocytosis have severe anemia, although it improves after the first year of life. Splenomegaly can occur anytime from early childhood to adulthood. About half of affected individuals develop hard deposits in the gallbladder called gallstones, which typically occur from late childhood to mid-adulthood.\n\nThere are four forms of hereditary spherocytosis, which are distinguished by the severity of signs and symptoms. They are known as the mild form, the moderate form, the moderate/severe form, and the severe form. It is estimated that 20 to 30 percent of people with hereditary spherocytosis have the mild form, 60 to 70 percent have the moderate form, 10 percent have the moderate/severe form, and 3 to 5 percent have the severe form.\n\nPeople with the mild form may have very mild anemia or sometimes have no symptoms. People with the moderate form typically have anemia, jaundice, and splenomegaly. Many also develop gallstones. The signs and symptoms of moderate hereditary spherocytosis usually appear in childhood. Individuals with the moderate/severe form have all the features of the moderate form but also have severe anemia. Those with the severe form have life-threatening anemia that requires frequent blood transfusions  to replenish their red blood cell supply. They also have severe splenomegaly, jaundice, and a high risk for developing gallstones. Some individuals with the severe form have short stature, delayed sexual development, and skeletal abnormalities.|MedlinePlus Genetics|N|
C2678352|Splitting of the skin (cell-cell adhesion of keratinocytes) localized to the interface between the stratum corneum and stratum granulosum layers of the epidermis.|HPO|N|
C2678397|Missing ulna bone associated with congenital failure of development.|HPO|N|
C2678399|Missing humerus bone associated with congenital failure of development.|HPO|N|
C2678408|Short stature-pituitary and cerebellar defects-small sella turcica syndrome is characterised by short stature, anterior pituitary hormone deficiency, small sella turcica, and a hypoplastic anterior hypophysis associated with pointed cerebellar tonsils. It has been described in three generations of a large French kindred. Ectopia of the posterior hypophysis was observed in some patients. The syndrome is transmitted as a dominantly inherited trait and is caused by a germline mutation within the LIM-homeobox transcription factor <i>LHX4</i> gene (1q25).|ORDO|N|
C2678439|A form of primary hypertrophic osteoarthropathy with characteristics of delayed closure of the cranial sutures and fontanelles, digital clubbing, arthropathy, and periostosis. To date, about 30 cases have been reported. May also be associated with congenital heart disease. It is caused by mutations in the HPGD gene (4q33-q34) and is inherited as an autosomal recessive trait.|SNOMEDCT_US|N|
C2678468|A neurodegenerative disease with characteristics of progressive muscular paralysis reflecting degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem and spinal cord. Caused by heterozygous mutation in the angiogenin gene (ANG) on chromosome 14q11.|SNOMEDCT_US|N|
C2678469|Rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death. Several risk factors such as smoking, hypertension, and excessive alcohol intake are associated with subarachnoid hemorrhage (summary by Krischek and Inoue, 2006).
For a discussion of genetic heterogeneity of intracranial berry aneurysm, see ANIB1 (105800).|OMIM|N|
C2678471|A rare arthrogryposis syndrome characterized by the association of arthrogryposis multiplex congenita and a severe form of motor neuron disease with loss of anterior horn cells in the spinal cord. Patients present with fetal akinesia deformation sequence with multiple contractures and facial anomalies, such as low-set ears, hypoplastic jaw, and short neck, as well as hypotonia and respiratory insufficiency. Some patients may survive into childhood and show developmental delay, markedly decreased muscle bulk, dystonic and involuntary movements, ataxia, and poor speech.|ORPHANET|N|
C2678473|Primary ciliary dyskinesia is an autosomal recessive disorder resulting from loss of normal ciliary function. Kartagener (pronounced KART-agayner) syndrome is characterized by the combination of primary ciliary dyskinesia and situs inversus, and occurs in approximately half of patients with ciliary dyskinesia. Since normal nodal ciliary movement in the embryo is required for normal visceral asymmetry, absence of normal ciliary movement results in a lack of definitive patterning; thus, random chance alone appears to determine whether the viscera take up the normal or reversed left-right position during embryogenesis. This explains why approximately 50% of patients, even within the same family, have situs inversus (Afzelius, 1976; El Zein et al., 2003).
For a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia and the Kartagener syndrome, see CILD1 (244400).|OMIM|N|
C2678474|A dilated cardiomyopathy that has material basis in mutation in the TNNI3 gene on chromosome 19q13.|MONDO|N|
C2678475|Dilated cardiomyopathy-1Z (CMD1Z) is characterized by severe reduction in cardiac function, with onset in infancy or early childhood in some patients but diagnosis as late as the fifth decade in others. Patients exhibit biventricular systolic dysfunction, with severely reduced left ventricular ejection fractions. Most affected individuals require transplantation for survival (Mogensen et al., 2004; Kaski et al., 2007; Pinto et al., 2011).
For a general phenotypic description and a discussion of genetic heterogeneity of dilated cardiomyopathy, see CMD1A (115200).|OMIM|N|
C2678476|Dilated cardiomyopathy-1Y (CMD1Y) is characterized by severe progressive cardiac failure, resulting in death in the third to sixth decades of life in some patients. Electron microscopy shows an abnormal sarcomere structure (Olson et al., 2001).
In left ventricular noncompaction-9 (LVNC9), patients may present with cardiac failure or may be asymptomatic. Echocardiography shows noncompaction of the apex and midventricular wall of the left ventricle (Probst et al., 2011). Some patients also exhibit Ebstein anomaly of the tricuspid valve (Kelle et al., 2016) and some have mitral valve insufficiency (Nijak et al., 2018).|OMIM|N|
C2678477|Brugada syndrome is characterized by cardiac conduction abnormalities (ST segment abnormalities in leads V1-V3 on EKG and a high risk for ventricular arrhythmias) that can result in sudden death. Brugada syndrome presents primarily during adulthood, although age at diagnosis may range from infancy to late adulthood. The mean age of sudden death is approximately 40 years. Clinical presentations may also include sudden infant death syndrome (SIDS; death of a child during the first year of life without an identifiable cause) and sudden unexpected nocturnal death syndrome (SUNDS), a typical presentation in individuals from Southeast Asia. Other conduction defects can include first-degree AV block, intraventricular conduction delay, right bundle branch block, and sick sinus syndrome.|GeneReviews|N|
C2678478|Brugada syndrome is characterized by cardiac conduction abnormalities (ST segment abnormalities in leads V1-V3 on EKG and a high risk for ventricular arrhythmias) that can result in sudden death. Brugada syndrome presents primarily during adulthood, although age at diagnosis may range from infancy to late adulthood. The mean age of sudden death is approximately 40 years. Clinical presentations may also include sudden infant death syndrome (SIDS; death of a child during the first year of life without an identifiable cause) and sudden unexpected nocturnal death syndrome (SUNDS), a typical presentation in individuals from Southeast Asia. Other conduction defects can include first-degree AV block, intraventricular conduction delay, right bundle branch block, and sick sinus syndrome.|GeneReviews|N|
C2678479|Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene.|MONDO|N|
C2678480|A rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 22, outside the DiGeorge critical region. The phenotype is characterized by prematurity, pre- and post-natal growth retardation, developmental delay (particularly speech), mild intellectual disability, variable cardiac defects, and minor skeletal anomalies (such as clinodactyly). Dysmorphic features present in half of the individuals include microcephaly, arched eyebrows, deep set eyes, narrow upslanting palpebral fissures, ear abnormalities (low-set ears, tags and pits), hypoplastic alae nasi, smooth philtrum, down-turned mouth, thin upper lip, retro/micrognatia and pointed chin. For certain very distal deletions including the <i>SMARCB1</i> gene, there is a risk of developing malignant rhabdoid tumours. Most deletions are <i>de novo </i>.|ORDO|N|
C2678482|This syndrome is characterised by the association of microtia, eye coloboma, and imperforation of the nasolacrimal duct.|ORDO|N|
C2678483|Long QT syndrome (LQTS) is a cardiac electrophysiologic disorder, characterized by QT prolongation and T-wave abnormalities on the EKG that are associated with tachyarrhythmias, typically the ventricular tachycardia torsade de pointes (TdP). TdP is usually self-terminating, thus causing a syncopal event, the most common symptom in individuals with LQTS. Such cardiac events typically occur during exercise and emotional stress, less frequently during sleep, and usually without warning. In some instances, TdP degenerates to ventricular fibrillation and causes aborted cardiac arrest (if the individual is defibrillated) or sudden death. Approximately 50% of untreated individuals with a pathogenic variant in one of the genes associated with LQTS have symptoms, usually one to a few syncopal events. While cardiac events may occur from infancy through middle age, they are most common from the preteen years through the 20s. Some types of LQTS are associated with a phenotype extending beyond cardiac arrhythmia. In addition to the prolonged QT interval, associations include muscle weakness and facial dysmorphism in Andersen-Tawil syndrome (LQTS type 7); hand/foot, facial, and neurodevelopmental features in Timothy syndrome (LQTS type 8); and profound sensorineural hearing loss in Jervell and Lange-Nielson syndrome.|GeneReviews|N|
C2678484|Long QT syndrome (LQTS) is a cardiac electrophysiologic disorder, characterized by QT prolongation and T-wave abnormalities on the EKG that are associated with tachyarrhythmias, typically the ventricular tachycardia torsade de pointes (TdP). TdP is usually self-terminating, thus causing a syncopal event, the most common symptom in individuals with LQTS. Such cardiac events typically occur during exercise and emotional stress, less frequently during sleep, and usually without warning. In some instances, TdP degenerates to ventricular fibrillation and causes aborted cardiac arrest (if the individual is defibrillated) or sudden death. Approximately 50% of untreated individuals with a pathogenic variant in one of the genes associated with LQTS have symptoms, usually one to a few syncopal events. While cardiac events may occur from infancy through middle age, they are most common from the preteen years through the 20s. Some types of LQTS are associated with a phenotype extending beyond cardiac arrhythmia. In addition to the prolonged QT interval, associations include muscle weakness and facial dysmorphism in Andersen-Tawil syndrome (LQTS type 7); hand/foot, facial, and neurodevelopmental features in Timothy syndrome (LQTS type 8); and profound sensorineural hearing loss in Jervell and Lange-Nielson syndrome.|GeneReviews|N|
C2678485|Long QT syndrome (LQTS) is a cardiac electrophysiologic disorder, characterized by QT prolongation and T-wave abnormalities on the EKG that are associated with tachyarrhythmias, typically the ventricular tachycardia torsade de pointes (TdP). TdP is usually self-terminating, thus causing a syncopal event, the most common symptom in individuals with LQTS. Such cardiac events typically occur during exercise and emotional stress, less frequently during sleep, and usually without warning. In some instances, TdP degenerates to ventricular fibrillation and causes aborted cardiac arrest (if the individual is defibrillated) or sudden death. Approximately 50% of untreated individuals with a pathogenic variant in one of the genes associated with LQTS have symptoms, usually one to a few syncopal events. While cardiac events may occur from infancy through middle age, they are most common from the preteen years through the 20s. Some types of LQTS are associated with a phenotype extending beyond cardiac arrhythmia. In addition to the prolonged QT interval, associations include muscle weakness and facial dysmorphism in Andersen-Tawil syndrome (LQTS type 7); hand/foot, facial, and neurodevelopmental features in Timothy syndrome (LQTS type 8); and profound sensorineural hearing loss in Jervell and Lange-Nielson syndrome.|GeneReviews|N|
C2678486|Temple-Baraitser syndrome is a rare developmental disorder characterized by severe mental retardation and anomalies of the first ray of the upper and lower limbs with absence/hypoplasia of the nails. Most patients also have seizures; various dysmorphic facial features have been reported (summary by Jacquinet et al., 2010).|OMIM|N|
C2678492|Syndrome that has characteristics of female to male sex reversal and developmental anomalies of the kidneys, adrenal glands and lungs. The syndrome is lethal and has been described in three fetuses. It is caused by homozygous missense mutations in the WNT4 gene. It is transmitted as an autosomal recessive trait.|SNOMEDCT_US|N|
C2678497|Elliptocytosis is a hematologic disorder characterized by elliptically shaped erythrocytes and a variable degree of hemolytic anemia. Usually inherited as an autosomal dominant trait, elliptocytosis results from mutation in any one of several genes encoding proteins of the red cell membrane skeleton (summary by McGuire et al., 1988).
Genetic Heterogeneity of Elliptocytosis
Elliptocytosis-2 (130600) is caused by mutation in the SPTA1 gene (182860). Elliptocytosis-3 (617948) is caused by mutation in the SPTB gene (182870). Elliptocytosis-4 (166900), also known as Southeast Asian ovalocytosis, is caused by mutation in the SLC4A1 gene (109270). Also see pyropoikilocytosis (266140).
See Delaunay (2007) for a discussion of the molecular basis of hereditary red cell membrane disorders.|OMIM|N|
C2678503|Axenfeld-Rieger syndrome is primarily an eye disorder, although it can also affect other parts of the body. This condition is characterized by abnormalities of the front part of the eye, an area known as the anterior segment. For example, the colored part of the eye (the iris), may be thin or poorly developed. The iris normally has a single central hole, called the pupil, through which light enters the eye. People with Axenfeld-Rieger syndrome often have a pupil that is off-center (corectopia) or extra holes in the iris that can look like multiple pupils (polycoria). This condition can also cause abnormalities of the cornea, which is the clear front covering of the eye.\n\nAbout half of affected individuals develop glaucoma, a serious condition that increases pressure inside the eye. When glaucoma occurs with Axenfeld-Rieger syndrome, it most often develops in late childhood or adolescence, although it can occur as early as infancy. Glaucoma can cause vision loss or blindness.\n\nThe signs and symptoms of Axenfeld-Rieger syndrome can also affect other parts of the body. Many affected individuals have distinctive facial features such as widely spaced eyes (hypertelorism); a flattened mid-face with a broad, flat nasal bridge; and a prominent forehead. The condition is also associated with dental abnormalities including unusually small teeth (microdontia) or fewer than normal teeth (oligodontia). Some people with Axenfeld-Rieger syndrome have extra folds of skin around their belly button (redundant periumbilical skin). Other, less common features can include heart defects, the opening of the urethra on the underside of the penis (hypospadias), narrowing of the anus (anal stenosis), and abnormalities of the pituitary gland that can result in slow growth.\n\nResearchers have described at least three types of Axenfeld-Rieger syndrome. The types, which are numbered 1 through 3, are distinguished by their genetic cause.|MedlinePlus Genetics|N|
C2678517|Vibration felt by examiner on the surface of the body|SNOMEDCT_US|N|
C2680446|Spastic paraplegia-43 (SPG43) is an autosomal recessive neurodegenerative disorder characterized by childhood onset of progressive spasticity affecting the lower and upper limbs (summary by Meilleur et al., 2010).
For a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive spastic paraplegia, see 270800.|OMIM|N|
C2681535|Familial progressive hyperpigmentation (FPH) is a rare autosomal dominant disorder characterized by patches of hyperpigmentation in the skin, which are present at birth or in early infancy and increase in size and number with age (summary by Zhang et al., 2006).
Also see familial progressive hyperpigmentation with or without hypopigmentation (FPHH; 145250).|OMIM|N|
C2681923|Retinitis pigmentosa is characterized by constriction of the visual fields, night blindness, and fundus changes, including 'bone corpuscle' lumps of pigment. RP unassociated with other abnormalities is inherited most frequently (84%) as an autosomal recessive, next as an autosomal dominant (10%), and least frequently (6%) as an X-linked recessive in the white U.S. population (Boughman et al., 1980).
For a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000.|OMIM|N|
C2697310|Any sarcoidosis in which the cause of the disease is a mutation in the HLA-DRB1 gene.|MONDO|N|
C2697358|A rare genetic disorder of sex development with either the coexistence of both male and female reproductive gonads or, more frequently, the presence of one or both gonads containing a mixture of both testicular and ovarian tissue (ovotestes) in an individual with a normal male 46, XY karyotype. External genitalia are usually ambiguous, but can range from normal male to normal female and if a uterus and/or fallopian tubes are present, they are generally hypoplastic. Cryptorchidism, hypospadias, infertility and increased risk of gonadal neoplasm are frequently associated.|SNOMEDCT_US|N|
C2697518|A follicular lymphoma with diffuse pattern characterized by the presence of 5 or less centroblasts per 40 high-power fields.|NCI|N|
C2697519|A follicular lymphoma with diffuse pattern characterized by the presence of 6-15 centroblasts per 40 high-power fields.|NCI|N|
C2697603|A cytogenetic finding indicating that the translocation (14;18) is present in cells.|NCI|N|
C2697636|A B-cell acute leukemia characterized by the presence of lymphoblasts which contain more than 50 and usually less than 66 chromosomes. It is commonly seen in children and rarely in adults. It has a favorable clinical outcome.|NCI|N|
C2697638|A B-cell acute leukemia characterized by the presence of lymphoblasts which contain less than 46 chromosomes. It occurs in both children and adults. It has an unfavorable clinical outcome.|NCI|N|
C2697646|A change in the nucleotide sequence of the IKZF1 gene.|NCI|N|
C2697670|Problem associated with the heart valve leaflet not closing properly.|NCI|N|
C2697678|An acute or chronic infectious process affecting the fallopian tube. Chlamydia trachomatis, Neisseria gonorrhea, Mycoplasma, Staphylococcus, and Streptococcus are the most common causative agents.|NCI|N|
C2697795|A necrotic process involving the intestinal wall.|NCI|N|
C2697826|A benign or malignant tumor of the liver composed of hepatic stellate cells.|NCI|N|
C2697844|A classification of myocardial infarction characterized by an absence of rales over the lung fields and an absence of S3.|NCI|N|
C2697845|A classification of myocardial infarction characterized by rales over 50% or less of the lung fields or the presence of an S3.|NCI|N|
C2697846|A classification of myocardial infarction characterized by rales over more than 50% of the lung fields.|NCI|N|
C2697847|A classification of myocardial infarction characterized by cardiogenic shock; an event with systolic BP less than 90 mmHg for greater than 30 minutes, not responsive to fluid resuscitation alone, and felt to be secondary to cardiac dysfunction. Associated signs of hypoperfusion (cool and clammy skin, oliguria, or altered sensorium) or a cardiac index of less than 2.2 L/min/m2 are present. This includes when the systolic BP increases to greater than 90 mmHg in response to inotropic agents in less than 1 hour.)|NCI|N|
C2697887|An indication or description of an adverse event occurrence.|NCI|N|
C2697890|The toxicity grade value of the adverse event.|NCI|N|
C2697908|The time it take to eject blood from the left ventricle. Measurement begins when the aortic valve opens and ends when the aortic valve closes.|NCI|N|
C2697932|Loeys-Dietz syndrome (LDS) is characterized by vascular findings (cerebral, thoracic, and abdominal arterial aneurysms and/or dissections), skeletal manifestations (pectus excavatum or pectus carinatum, scoliosis, joint laxity, arachnodactyly, talipes equinovarus, cervical spine malformation and/or instability), craniofacial features (widely spaced eyes, strabismus, bifid uvula / cleft palate, and craniosynostosis that can involve any sutures), and cutaneous findings (velvety and translucent skin, easy bruising, and dystrophic scars). Individuals with LDS are predisposed to widespread and aggressive arterial aneurysms and pregnancy-related complications including uterine rupture and death. Individuals with LDS can show a strong predisposition for allergic/inflammatory disease including asthma, eczema, and reactions to food or environmental allergens. There is also an increased incidence of gastrointestinal inflammation including eosinophilic esophagitis and gastritis or inflammatory bowel disease. Wide variation in the distribution and severity of clinical features can be seen in individuals with LDS, even among affected individuals within a family who have the same pathogenic variant.|GeneReviews|N|
C2697933|A rare autosomal dominant syndrome caused by mutations in the TGFBR1 gene. It is characterized by vascular abnormalities (aortic and arterial aneurysms, aortic dissection, and tortuosity of the arteries), hypertelorism, bifid uvula, and early fusion of the skull bones.|NCI|N|
C2697943|A chromosomal aberration where there is a loss of both the short arm of chromosome 1 and the long arm of chromosome 19. This chromosomal aberration is associated with oligodendroglial tumors.|NCI|N|
C2698009|A malignant tumor of the liver composed of hepatic stellate cells.|NCI|N|
C2698203|A ductal breast carcinoma that has spread from the original site of growth to another anatomic site.|NCI|N|
C2698204|A lobular breast carcinoma that has spread from the original site of growth to another anatomic site.|NCI|N|
C2698234|The microscopic appearance of a cell undergoing mitosis.|NCI|N|
C2698259|A monoclonal expansion of B-lymphocytes with or without the characteristic immunophenotype of chronic lymphocytic leukemia. It precedes virtually all cases of chronic lymphocytic leukemia/small lymphocytic lymphoma.|NCI|N|
C2698263|A necrotic process affecting the tissues of the mouth.|NCI|N|
C2698294|A high grade B-cell lymphoma with blastoid features or features between diffuse large B-cell lymphoma and Burkitt lymphoma which lacks MYC, BCL2, and BCL6 rearrangements.|NCI|N|
C2698305|A B-cell acute leukemia characterized by the presence of lymphoblasts that carry a translocation between the TEL gene on chromosome 12 and the AML1 gene on chromosome 21, (p13.2;q22.1). It results in the production of the TEL-AML1 (ETV6-RUNX1) fusion protein. It is commonly seen in children and rarely in adults. It has a favorable clinical outcome.|NCI|N|
C2698306|A B-cell acute leukemia characterized by the presence of lymphoblasts that carry a translocation between the E2A gene on chromosome 19 and the PBX1 gene on chromosome 1. It occurs in children and less often in adults.|NCI|N|
C2698307|A rare B-cell acute leukemia characterized by the presence of lymphoblasts that carry a translocation between the IL3 gene on chromosome 5 and the IGH locus on chromosome 14, (q31.1;q32.3). It results in eosinophilia.|NCI|N|
C2698308|A B-cell acute leukemia characterized by the presence of lymphoblasts that carry a translocation between the MLL (KMT2A) gene at 11q23.3 and another gene partner resulting in the production of an MLL related fusion protein. It is the most commonly seen leukemia in the pediatric population under the age of one year. The prognosis is unfavorable.|NCI|N|
C2698309|A precursor lymphoid neoplasm which is composed of B-lymphoblasts and carries a translocation between the MLL (KMT2A) gene at 11q23.3 and another gene partner resulting in the production of an MLL related fusion protein.|NCI|N|
C2698310|The term refers to precursor lymphoid neoplasms which are composed of B-lymphoblasts and characterized by the absence of recurrent genetic abnormalities.|NCI|N|
C2698311|A precursor lymphoid neoplasm composed of B-lymphoblasts which contain more than 50 and usually less than 66 chromosomes. It has a favorable clinical outcome.|NCI|N|
C2698312|A precursor lymphoid neoplasm composed of B-lymphoblasts which contain less than 46 chromosomes. It has an unfavorable clinical outcome.|NCI|N|
C2698313|The term refers to precursor lymphoid neoplasms which are composed of B-lymphoblasts and characterized by the presence of recurrent genetic abnormalities.|NCI|N|
C2698314|A precursor lymphoid neoplasm which is composed of B-lymphoblasts and carries a translocation between the TEL gene on chromosome 12 and the AML1 gene on chromosome 21, (p13.2;q22.1). It results in the production of the TEL-AML1 (ETV6-RUNX1) fusion protein. It has a favorable clinical outcome.|NCI|N|
C2698315|A precursor lymphoid neoplasm which is composed of B-lymphoblasts and carries a translocation between the E2A gene on chromosome 19 and the PBX1 gene on chromosome 1.|NCI|N|
C2698316|A precursor lymphoid neoplasm which is composed of B-lymphoblasts and carries a translocation between the IL3 gene on chromosome 5 and the IGH locus on chromosome 14, (q31.1;q32.3). It results in eosinophilia.|NCI|N|
C2698317|A precursor lymphoid neoplasm which is composed of B-lymphoblasts and carries a translocation between the BCR gene on chromosome 22 and the ABL1 gene on chromosome 9. It results in the production of the p190 kd or p210 kd fusion protein. It has an unfavorable clinical outcome.|NCI|N|
C2698330|A method to diagnosis hepatocellular carcinoma based on radiological findings, alfa-fetoprotein level and biopsy.|NCI|N|
C2698359|A paraganglioma that arises from and is confined to the carotid body.|NCI|N|
C2698360|A benign tumor of the liver composed of hepatic stellate cells.|NCI|N|
C2698446|A benign or malignant growth composed of proliferating neoplastic cells.|NCI|N|
C2698480|An adverse event appears to have occurred, but there does not appear to have been a problem with a medical device or the way it was used.|NCI|N|
C2698487|A non-neoplastic disorder that affects the lips. Representative examples include inflammation and cleft lip.|NCI|N|
C2698524|Bleeding that is induced by gentle manipulation of the gingival tissue at the depth of the gingival sulcus.|NCI|N|
C2698737|A group of connective tissue disorder caused by mutations in the COL1A1 gene mapped to chromosome 17q21. It includes the Ehlers-Danlos syndrome, osteogenesis imperfecta, and osteoporosis.|NCI|N|
C2698750|A nodal follicular lymphoma with favorable prognosis. It lacks BCL-2 rearrangement and 14;18 translocation. Nearly all cases are localized. It is usually seen in the pediatric population but similar lymphomas may occur in adults.|NCI|N|
C2698751|A nodal marginal zone lymphoma affecting the pediatric population, predominantly males. It presents with asymptomatic and localized (mainly head and neck) disease in the vast majority of cases. Morphologically there is often progressive transformation of the germinal centers. The prognosis is excellent.|NCI|N|
C2698775|Philadelphia chromosome abnormality; t(9;22)(q34;q11) was found; bcr/abl gene rearrangement was found.|NCI|N|
C2698789|An unusual sensation in the area of pharynx. It may be the initial manifestation of seizures associated with temporal lobe epilepsy.|NCI|N|
C2698832|A plasmablastic lymphoma arising in the oral cavity, usually associated with HIV infection.|NCI|N|
C2698836|An aggressive mantle cell lymphoma characterized by the presence of pleomorphic neoplastic B-lymphocytes.|NCI|N|
C2698878|A follicular lymphoma arising from the intestine. The majority of cases occur in the small intestine, particularly the duodenum. Usually the patients have localized disease and a favorable clinical outcome.|NCI|N|
C2698967|A grading of angina such that ordinary physical activity, such as walking or climbing stairs, does not cause angina. Angina occurs with strenuous, rapid, or prolonged exertion at work or recreation.|NCI|N|
C2698969|A grading of angina characterized by marked limitations of ordinary physical activity. Angina occurs on walking 1 to 2 blocks on the level and climbing 1 flight of stairs in normal conditions and at a normal pace.|NCI|N|
C2698997|A rare condition characterized by the development of a carcinoma in a pre-existing craniopharyngioma.|NCI|N|
C2699012|A cytogenetic abnormality characterized by rearrangement of genes located on the long arm of chromosome 11 (11q).|NCI|N|
C2699018|A laboratory test result indicating the presence of recurrent genetic abnormalities in cells.|NCI|N|
C2699153|The movement of one cell type into an area normally occupied by a different cell type.|NCI|N|
C2699198|A genetic syndrome caused by microdeletions in chromosome 17q21. The microdeletions encompass the MAPT and CRHR1 genes. It is characterized by mental retardation, hypotonia, distinctive facial features (long face, low-set ears, and pear-shaped nose), friendly behavior, and heart defects.|NCI|N|
C2699200|A genetic syndrome caused by terminal 22q13 microdeletions. It is characterized by developmental delay and delayed or absent speech.|NCI|N|
C2699203|A cytogenic abnormality that refers to the loss of some or all of the genetic material located in the q31.1 band on the long arm of chromosome 5.|NCI|N|
C2699275|A test used to determine the amount of tears collected on a filter paper strip in 5 minutes.|NCI|N|
C2699308|A distinctive characteristic of the skin marked by the amount of sebum secreted by sebaceous glands.|NCI|N|
C2699312|The count of lymphocytes located in the epithelial layer of the mucosa of the small intestine is above the upper limit of normal.|HPO|N|
C2699313|A necrotic process involving the wall of the small intestine.|NCI|N|
C2699507|A small B-cell clonal lymphoproliferative disorder of the spleen that does not fall into any of the other categories of mature B-cell neoplasms.|NCI|N|
C2699508|A rare indolent B-cell non-Hodgkin lymphoma with characteristics of abnormal proliferation of small monomorphous basophilic B-lymphocytes with villous cytoplasm in the splenic red pulp, bone marrow and peripheral blood. It typically presents in the late clinical stages with splenomegaly and moderate lymphocytosis. Cytopenia is rare and likely associated with hypersplenism.|SNOMEDCT_US|N|
C2699510|A condition in which middle parts of the hand (fingers and metacarpals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic middle fingers over absent middel fingers as far as oligo- or monodactyl hands.|HPO|N|
C2699512|Replacement of the bronchial glandular epithelial cells by squamous cells.|NCI|N|
C2699517|The absence of adverse events or within normal limits or values.|NCI|N|
C2699538|A cystic lesion with a central keratin mass which is surrounded by squamous epithelium.|NCI|N|
C2699572|A solitary fibrous tumor characterized by the presence of areas of abrupt transition to high grade sarcoma.|NCI|N|
C2699577|Abnormally late fusion of the bone growth plate.|NCI|N|
C2699746|A rare congenital distal limb malformation with the combination of syndactyly and polydactyly. In most cases affects the third and fourth fingers and the fourth and fifth toes bilaterally. Additional features include fifth finger clinodactyly, camptodactyly and/or brachydactyly. Inherited in an autosomal dominant manner.|SNOMEDCT_US|N|
C2699747|An aggressive and life-threatening, EBV-positive T-cell lymphoma affecting children. It is more prevalent in Taiwan and Japan. Clinically, it presents with acute onset of fever and generalized malaise, followed by hepatosplenomegaly and liver failure. Morphologically it is characterized by the presence of infiltrating T-lymphocytes which are usually small and erythrophagocytosis. Most patients have a fulminant clinical course.|NCI|N|
C2699776|A diffuse large B-cell lymphoma arising in body cavities or narrow spaces of long standing chronic inflammation. The classic example is the pyothorax-associated lymphoma that arises in the pleural cavity of patients with a history of long standing pyothorax.|NCI|N|
C2699777|A term referring to a group of diffuse large B-cell lymphomas which are biologically heterogeneous. These lymphomas have a centroblastic, immunoblastic, or anaplastic morphology.|NCI|N|
C2699838|An Epstein-Barr virus-associated mature T-cell lymphoproliferative group of disorders affecting children. It occurs with increased frequency in Asians and Native Americans. It includes the systemic EBV-positive T-cell lymphoma of childhood and the hydroa vacciniforme-like lymphoma.|NCI|N|
C2700007|A rare form of diffuse large B-cell lymphoma occurring most commonly in patients over the age of 50 (usually between 70-75 years of age), without overt immunodeficiency, and presenting with nodal and extranodal involvement (in sites such as the stomach, lung, skin and pancreas) and B symptoms (fever, night sweats, weight loss). The tumor is characterized by an aggressive course and a short survival rate.|SNOMEDCT_US|N|
C2700090|A malignant ovarian epithelial tumor. It has been described in mice and rats and is characterized by marked pleomorphism, atypia, and an infiltrative growth pattern.|NCI|N|
C2700091|A benign ovarian epithelial tumor. It has been described in mice and rats and is rare in other animal species. Morphologically it is characterized by the presence of tubular structures and interstitial stroma.|NCI|N|
C2700092|A side effect of cancer treatment. It has been described in patients with chronic lymphocytic leukemia treated with lenalidomide, breast cancer patients during the initial phase of hormonal treatment, and in prostate cancer patients treated with luteinizing hormone-releasing hormone agonists. Symptoms include a sudden and painful increase in the tumor size, rash, low grade fever, bone pain, hypercalcemia, and an increase in the tumor markers levels.|NCI|N|
C2700115|A rare, mature T-Cell lymphoma arising from the skin.|NCI|N|
C2700125|An intrinsic narrowing of a lumen of the urinary tract.|NCI|N|
C2700132|Congenital or acquired narrowing of the lumen of the uterine cervix.|NCI|N|
C2700185|Skin which is extremely pale white and it always burns when exposed to the sun. It is seen in people with blond or red hair and blue or hazel eyes.|NCI|N|
C2700186|Skin which is white and it usually burns easily when exposed to the sun. It is usually seen in people with blond or red hair and blue or hazel eyes.|NCI|N|
C2700187|Skin which is darker white and it sometimes burns when exposed to the sun. This type of skin can be seen in people with any hair or eye color.|NCI|N|
C2700188|Skin which is light brown and it rarely burns when exposed to the sun. It is usually seen in people of Mediterranean origin.|NCI|N|
C2700189|Skin which is brown and it burns very rarely when exposed to the sun. It is usually seen in people of Middle Eastern origin.|NCI|N|
C2700190|Skin which is dark brown or black and it never burns when exposed to the sun.|NCI|N|
C2700204|A lymph node-based peripheral T-cell lymphoma of T-follicular helper (TFH) cells, with a predominantly follicular growth pattern. It lacks characteristic features of angioimmunoblastic T-cell lymphoma such as proliferation of high endothelial venules or extrafollicular follicular dendritic cells. (WHO 2017)|NCI|N|
C2700265|An autosomal dominant subtype of Waardenburg syndrome (WS) with characteristics of varying degrees of deafness and pigmentation anomalies of eyes, hair and skin but without dystopia canthorum. The disease is genetically very heterogeneous, mutations have been found in MITF (3p14-p13; subtype designated as WS2A), SNAI2 (8q11.21; WS2D), and SOX10 (22q13.1; WS2E) genes. Furthermore WS2 loci have been mapped to chromosome 1p21-p13.3 (subtype designated as WS2B) and to chromosome 8p23 (designated as WS2C). Digenic inheritance of MITF mutation in combination a TYR mutation (and/or the TYRR402Q hypomorphic allele) has been reported in two families with WS2 and ocular albinism. In the majority of cases, WS2 is transmitted as an autosomal dominant disorder with a large variable inter and intrafamilial expressivity. Some affected patients present with a de novo mutation.|SNOMEDCT_US|N|
C2700405|Waardenburg syndrome type 2 (WS2) is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes; congenital sensorineural hearing loss; and the absence of 'dystopia canthorum,' the lateral displacement of the inner canthus of each eye, which is seen in some other forms of WS (review by Read and Newton, 1997). Individuals with WS type 2E (WS2E) may have neurologic abnormalities, including mental impairment, myelination defects, and ataxia.
Waardenburg syndrome type 2 is genetically heterogeneous (see WS2A, 193510). For a description of other clinical variants of Waardenburg syndrome, see WS1 (193500), WS3 (148820), and WS4 (277580).|OMIM|N|
C2700406|Idiopathic scoliosis is a structurally fixed lateral curvature of the spine with a rotatory component. There is at least a 10 degree curvature as demonstrated by upright spine roentgenograms by the Cobb method (Weinstein, 1994).
Scoliosis may occur secondary to other hereditary disorders including Marfan syndrome (154700), dysautonomia (223900), neurofibromatosis (see 162200), Friedreich ataxia (see 229300), and muscular dystrophies.
Genetic Heterogeneity of Susceptibility to Isolated Scoliosis
Loci for isolated scoliosis have been mapped to chromosome 19 (IS1), chromosome 17 (IS2; 607354), chromosome 8 (IS3; 608765), chromosome 9q31-q34 (IS4; 612238), and chromosome 17q25-qter (IS5; 612239).|OMIM|N|
C2700425|Dermatosparaxis (meaning 'tearing of skin') is an autosomal recessive disorder of connective tissue resulting from deficiency of procollagen peptidase, an enzyme that aids in the processing of type I procollagen. The disorder and the responsible biochemical defect was first observed in cattle (Lapiere et al., 1971). Lapiere and Nusgens (1993) reviewed the discovery of dermatosparaxis in cattle, the elucidation of the disorder, its occurrence in other animals, and the delayed recognition of the disorder in the human.|OMIM|N|
C2700438|Bipolar disorder often occurs with other mental health conditions, including anxiety disorders (such as panic attacks), behavioral disorders (such as attention-deficit/hyperactivity disorder), and substance abuse.\n\nBipolar disorder is classified into several types based on the mood changes that occur. Bipolar I involves manic episodes, which can be accompanied by psychotic symptoms, and hypomanic or depressive episodes. Bipolar II involves hypomanic episodes and depressive episodes. Cyclothymic disorder involves hypomanic episodes and depressive episodes that are typically less severe than those in bipolar I or bipolar II.\n\nManic and depressive episodes can include psychotic symptoms, such as false perceptions (hallucinations) or strongly held false beliefs (delusions). Mixed episodes, which have features of manic and depressive episodes at the same time, also occur in some affected individuals.\n\nDepressive episodes are marked by low energy and activity, a feeling of hopelessness, and an inability to perform everyday tasks. People with bipolar disorder often have repeated thoughts of death and suicide, and they have a much greater risk of dying by suicide than the general population.\n\nManic episodes are characterized by increased energy and activity, irritability, restlessness, an inability to sleep, and reckless behavior. Some people with bipolar disorder experience hypomanic episodes, which are similar to but less extreme than manic episodes.\n\nPeople with bipolar disorder experience both dramatic "highs," called manic episodes, and "lows," called depressive episodes. These episodes can last from hours to weeks, and many people have no symptoms between episodes.\n\nBipolar disorder is a mental health condition that causes extreme shifts in mood, energy, and behavior. This disorder most often appears in late adolescence or early adulthood, although symptoms can begin at any time of life.|MedlinePlus Genetics|N|
C2700553|Omenn syndrome is an autosomal recessive disorder characterized by severe combined immunodeficiency (SCID) associated with erythrodermia, hepatosplenomegaly, lymphadenopathy, and alopecia. B cells are mostly absent, T-cell counts are normal to elevated, and T cells are frequently activated and express a restricted T-cell receptor (TCR) repertoire (summary by Ege et al., 2005).
Another distinct form of familial histiocytic reticulocytosis (267700) is caused by mutation in the perforin-1 gene (PRF1; 170280) on chromosome 10q22.|OMIM|N|
C2700617|A proneness to anger, i.e., a tendency to become easily bothered or annoyed.|HPO|N|
C2700620|An infectious process affecting the anal area and the rectum.|NCI|N|
C2700637|A disorder characterized by an abnormal communication between a salivary gland and another organ or anatomic site.|NCI|N|
C2702529|An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the duodenum.|HPO|N|
C2702546|The technique used to administer the exposure treatment.|NCI|N|
C2703042|Malignant neoplasms that either originate from the bone marrow (e.g. myeloid leukemias) or involve the bone marrow as secondary-metastatic tumors (e.g. metastatic carcinomas to the bone marrow).|NCI|N|
C2707644|Rearrangement of the PDGFRA gene, resulting in the formation of a fusion transcript and aberrant tyrosine kinase activity. It has been described in hematologic malignancies usually presenting as chronic eosinophilic leukemia.|NCI|N|
C2708665|The length of time an individual spends exercising.|NCI|N|
C2711059|Idiopathic hypersomnia with long sleep time is a sleep disorder characterized by good quality night rest of 10 hours or more, excessive daytime drowsiness that is more or less continual with long episodes of non-restorative sleep, and difficult waking with sleep drunkenness or sleep inertia.|MONDO|N|
C2711168|Victim of an intentional exertion of physical force so as to cause injury, damage or death|SNOMEDCT_US|N|
C2711227|Steatosis is a term used to denote lipid accumulation within hepatocytes.|HPO|N|
C2711248|A rare osteonecrosis with characteristics of an exposed necrotic lesion in the mandible or maxilla present for more than eight weeks, arising as a complication of antiresorptive medication, dental intervention, trauma and infection. Patients may present with pain, altered neurosensory functions, secondary infections, and (in advanced stages) pathological fractures or fistulae.|SNOMEDCT_US|N|
C2711256|A rare urogenital condition characterized by a persistent unwanted painful erection that lasts more than 4 hours, caused by obstruction of the normal drainage of blood from the erectile tissues, leading to ischemia. It may be due to hematological diseases, metabolic or neurological disorders, and some erectile dysfunction medications. If the condition continues for several days, abnormal thickening and scarring of the erectile tissue may develop, causing permanent erectile dysfunction.|ORPHANET|N|
C2711368|Time when patient enters the operating or procedure room.|SNOMEDCT_US|N|
C2711610|An anomaly of metabolism or structure of the brain identified by imaging.|HPO|N|
C2711618|Addiction to a stimulant drug is defined as a drug that typically increases alertness, attention, and energy while also elevating blood pressure, heart rate, and breathing.|HPO|N|
C2711630|A group of phenotypically heterogeneous genetic disorders characterized by profound deficiencies of T- and B-cell function, which predispose the patients to both infectious and noninfectious complications.|HPO|N|
C2711797|Time the patient arrives in the pre-procedure area of the operating room or procedure room.|SNOMEDCT_US|N|
C2711853|Time when personnel begin setting up in the operating or procedure room the supplies and equipment for the next case.|SNOMEDCT_US|N|
C2712036|Inadequate quantity or quality of personal relations|CCC|N|
C2712042|Lack of ability to exercise restraint or control over feelings, emotions or reactions.|SNOMEDCT_US|N|
C2712083|An ability to protect against illness or injury.|SNOMEDCT_US|N|
C2712105|The patient is free from signs and symptoms of surgical site infection (e.g., pain, induration, foul odor, purulent drainage, and fever) following the perioperative procedure.|PNDS|N|
C2712168|An integrated pattern of modulation of the physiological and neurobehavioral systems of functioning, which can be strengthened.|NANDA-I|N|
C2712334|Inspiration of a foreign object into the airway.|HPO|N|
C2712370|An acute, unexplained episode that is frightening to the caretaker and that includes one of the following features: apnea, color change, marked change in muscle tone, choking or gagging.|SNOMEDCT_US|N|
C2712387|A status indicating that the patient''s illness or injury is due to an external cause that is not specified.|NCI|N|
C2713367|Marked developmental anomalies of a fetus or infant.|MSH|N|
C2713442|APC-associated polyposis conditions include (classic or attenuated) familial adenomatous polyposis (FAP) and gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS). FAP is a colorectal cancer (CRC) predisposition syndrome that can manifest in either classic or attenuated form. Classic FAP is characterized by hundreds to thousands of adenomatous colonic polyps, beginning on average at age 16 years (range 7-36 years). For those with the classic form of FAP, 95% of individuals have polyps by age 35 years; CRC is inevitable without colectomy. The mean age of CRC diagnosis in untreated individuals is 39 years (range 34-43 years). The attenuated form is characterized by multiple colonic polyps (average of 30), more proximally located polyps, and a diagnosis of CRC at a later age than in classic FAP. For those with an attenuated form, there is a 70% lifetime risk of CRC and the mean age of diagnosis is 50-55 years. Extracolonic manifestations are variably present and include polyps of the stomach and duodenum, osteomas, dental abnormalities, congenital hypertrophy of the retinal pigment epithelium (CHRPE), benign cutaneous lesions, desmoid tumors, adrenal masses, and other associated cancers. GAPPS is characterized by proximal gastric polyposis, increased risk of gastric adenocarcinoma, and no duodenal or colonic involvement in most individuals reported.|GeneReviews|N|
C2713497|A small, sac-like aneurysm (outpouching) of a cerebral blood vessel.|HPO|N|
C2717739|Drying and shriveling of the dental pulp due to dry gangrene. Historically this was a method used to remove devitalized pulp.|MSH|N|
C2717756|A decrease in corneal endothelial cell density.|NCI|N|
C2717757|An arteriopathy characterised by visual loss, progressive or episodic deafness, and abnormal fundoscopy.|SNOMEDCT_US|N|
C2717758|A form of presenile DEMENTIA characterized by cortical dementia, NEUROFIBRILLARY TANGLES without SENILE PLAQUES, Fahr''s type CALCINOSIS, and ATROPHY in frontotemporal or TEMPORAL LOBE.|MSH|N|
C2717779|A sudden CARDIAC ARRHYTHMIA (e.g., VENTRICULAR FIBRILLATION) caused by a blunt, non-penetrating impact to the precordial region of chest wall. Commotio cordis often results in sudden death without prompt cardiopulmonary defibrillation.|MSH|N|
C2717785|Disjoining the limbs or other parts of a corpse, often in association with criminal acts.|MSH|N|
C2717792|The structural changes in the number, mass, size and/or composition of the airway tissues.|MSH|N|
C2717793|Small airway (e.g., BRONCHIOLES) remodeling due to smoking, inhaled irritants, etc.|MSH|N|
C2717794|The structural changes seen in the asthmatic airways, including increased SMOOTH MUSCLE mass, deposition of EXTRACELLULAR MATRIX components, and thickening of the epithelial reticular BASEMENT MEMBRANE. Asthmatic airway remodeling is often associated with airway function decline (e.g., airflow limitation, persistent airway hyper-responsiveness, and allergic airway inflammation).|MSH|N|
C2717864|A disorder of unknown cause affecting honeybees, whereby a colony rapidly loses its adult bee population. ISRAELI ACUTE PARALYSIS VIRUS OF BEES may have a role in the disorder.|MSH|N|
C2717865|Group of systemic vasculitis with a strong association with anca. The disorders are characterized by necrotizing inflammation of small and medium size vessels, with little or no immune-complex deposits in vessel walls.|MONDO|N|
C2717879|Genetic variants (specific mutations or allelles of genes) and their corresponding phenotypic variations in the trait or the disease which the genes controls.|MSH|N|
C2717886|Protection conferred on a host by inoculation with one strain or component of a microorganism that prevents infection when later challenged with a similar strain. Most commonly the microorganism is a virus.|MSH|N|
C2717899|DEEP VEIN THROMBOSIS of an upper extremity vein (e.g., AXILLARY VEIN; SUBCLAVIAN VEIN; and JUGULAR VEINS). It is associated with mechanical factors (Upper Extremity Deep Vein Thrombosis, Primary) secondary to other anatomic factors (Upper Extremity Deep Vein Thrombosis, Secondary). Symptoms may include sudden onset of pain, warmth, redness, blueness, and swelling in the arm.|MSH|N|
C2717900|DEEP VEIN THROMBOSIS of an upper extremity vein (e.g., AXILLARY VEIN; SUBCLAVIAN VEIN; and JUGULAR VEINS) that develops as a complication of upper extremity central venous catheters and pacemaker uses, or cancer.|MSH|N|
C2717905|Autosomal dominant inherited disorders characterized by abnormalities of C1 inhibitor. Patients present with swelling of the skin, subcutaneous tissues, and mucosa sites. In type I hereditary angioedema, the plasma levels of C1 inhibitor are decreased. In type II hereditary angioedema, the C1 inhibitor is dysfunctional and its plasma levels may be normal or elevated.|NCI|N|
C2717906|A form of hereditary angioedema characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.|ORDO|N|
C2717907|Rare congenital cardiomyopathies characterized by the lack of left ventricular myocardium compaction. The noncompaction results in numerous prominent trabeculations and a loose myocardial meshwork (spongy myocardium) in the LEFT VENTRICLE. Heterogeneous clinical features include diminished systolic function sometimes associated with left ventricular dilation, that presents either neonatally or progressively. Often, the RIGHT VENTRICLE is also affected. CONGESTIVE HEART FAILURE; PULMONARY EMBOLISM; and ventricular ARRHYTHMIA are commonly seen.|MSH|N|
C2717908|Mutations in the alpha-dystrobrevin gene are associated with Autosomal Dominant type of Noncompaction of the Left Ventricular Myocardium.|MSH|N|
C2717909|Mutations in the tafazzin gene are associated with X-Linked Isolated Noncompaction of the Left Ventricular Myocardium. BARTH SYNDROME is an allelic disorder.|MSH|N|
C2717956|Infections with the protozoa of the phylum EUGLENOZOA.|MSH|N|
C2717957|Condition of low SYSTEMIC VASCULAR RESISTANCE that develops secondary to other conditions such as ANAPHYLAXIS; SEPSIS; SURGICAL SHOCK; and SEPTIC SHOCK. Vasoplegia that develops during or post surgery (e.g., CARDIOPULMONARY BYPASS) is called postoperative vasoplegic syndrome or vasoplegic syndrome.|MSH|N|
C2717961|A microvascular coagulopathy that may result from systemic vascular endothelial injury triggering the development of a procoagulant state, activation of the complement cascade, and microthrombi formation. Signs may include hemolytic anemia, thrombocytopenia, hypertension and renal dysfunction.|NCI|N|
C2717979|Loss of the tooth substance by chemical or mechanical processes|MSH|N|
C2717981|A benign, well circumscribed sweat gland neoplasm with eccrine or apocrine differentiation. It usually presents as a solitary, dome-shaped papule, nodule, or plaque on acral sites. It is characterized by a proliferation of uniform basaloid cells in the dermis and it is associated with the presence of focal ductal and cystic structures [NCIT:C27273].|HPO|N|
C2717983|Benign adnexal neoplasm whose glandular secretion includes the release of part of the secreting cell.|MSH|N|
C2717990|Asymmetries in the topography and refractive index of the corneal surface that affect visual acuity.|MSH|N|
C2718000|Disorders caused by imbalances in the protein homeostasis network - synthesis, folding, and transport of proteins; post-translational modifications; and degradation or clearance of misfolded proteins.|MONDO|N|
C2718001|Disorders caused by dysfunctions in PROTEIN FOLDING and degradation or clearance of misfolded proteins.|MSH|N|
C2718017|Disease characterized by the presence of abnormally phosphorylated, ubiquitinated, and cleaved DNA-binding protein TDP-43 in affected brain and spinal cord. Inclusions of the pathologic protein in neurons and glia, without the presence of AMYLOID, is the major feature of these conditions, thus making these proteinopathies distinct from most other neurogenerative disorders in which protein misfolding leads to brain amyloidosis. Both frontotemporal lobar degeneration and AMYOTROPHIC LATERAL SCLEROSIS exhibit this common method of pathogenesis and thus they may represent two extremes of a continuous clinicopathological spectrum of one disease.|MONDO|N|
C2718060|The deletion and reinsertion of a segment of a nucleic acid sequence in the same place, but flipped in an opposite orientation.|MSH|N|
C2718076|Drying and shriveling of the fetus that sometimes occurs after the resorption of fluid following fetal death in veterinary animals.|MSH|N|
C2718087|Hemorrhage caused by vitamin K deficiency.|MSH|N|
C2718092|A rare cutaneous tumor of apocrine or eccrine SWEAT GLAND origin. It is most commonly found on the extremities and is usually benign. It appears as a solitary nodule or cyst and may be solid or produce a watery discharge. It is related to POROMA except in acrospiroma it does not involve the epidermis. There is no indication that heredity or external agents cause these tumors.|MSH|N|
C2720163|A rare genetic skin disease belonging to the Mendelian Disorders of Cornification (MeDOC) and characterized by generalized hyperkeratosis and scaling of the skin. The condition is rather mild.|ORPHANET|N|
C2720289|G6PD deficiency is the most common genetic cause of chronic and drug-, food-, or infection-induced hemolytic anemia. G6PD catalyzes the first reaction in the pentose phosphate pathway, which is the only NADPH-generation process in mature red cells; therefore, defense against oxidative damage is dependent on G6PD. Most G6PD-deficient patients are asymptomatic throughout their life, but G6PD deficiency can be life-threatening. The most common clinical manifestations of G6PD deficiency are neonatal jaundice and acute hemolytic anemia, which in most patients is triggered by an exogenous agent, e.g., primaquine or fava beans. Acute hemolysis is characterized by fatigue, back pain, anemia, and jaundice. Increased unconjugated bilirubin, lactate dehydrogenase, and reticulocytosis are markers of the disorder. The striking similarity between the areas where G6PD deficiency is common and Plasmodium falciparum malaria (see 611162) is endemic provided evidence that G6PD deficiency confers resistance against malaria (summary by Cappellini and Fiorelli, 2008).|OMIM|N|
C2720434|A rare central nervous system malformation characterized by an abnormally large brain, accompanied by abnormal head circumference measurements evident at birth or developing over the first years of life. The condition can be unilateral or bilateral and affects males more often than females. There is no typical pattern of symptoms, but mental retardation, seizures, and other neurologic abnormalities have been reported.|ORPHANET|N|
C2720437|Dislocation of the distal humerus out of the elbow joint, where the radius, ulna, and humerus meet.|HPO|N|
C2721575|Nephropathy due to hypoperfusion of the kidney.|NCI|N|
C2721577|Malodorous smell of the wound.|NCI|N|
C2721579|The presence of hemosiderin in the urine.|HPO|N|
C2721603|Glomerulonephritis in the context of Henoch-Schönlein purpura.|NCI|N|
C2721649|A collection of blood between the scalp and the skull periosteum.|NCI|N|
C2721654|Any unfavorable or unintended symptom, sign, or disease including an abnormal laboratory finding) temporally associated with the previous administration of vaccine(s) that may or may not be considered related to the vaccine administration. Such events can be intervention related, dose related, route related, patient related, or caused by an interaction with other product(s) or procedure(s).|NCI|N|
C2721675|A postoperative syndrome, usually presenting after midline posterior fossa tumor resection, that involves a variety of signs and symptoms including aphasia, mutism or speech disturbances, dysphagia, mobility problems, cranial nerve palsies and emotional instability.|NCI|N|
C2721738|Vaginal intraepithelial neoplasia characterized by the presence of moderate or severe dysplastic changes.|NCI|N|
C2721741|A rare acquired motor neuron disease characterized by an initial unilateral weakness in the intrinsic hand muscles that eventually spreads to the opposite limb (with an asymmetrical distribution) and that has a very slow progression of muscular atrophy over a 20 year period.|ORDO|N|
C2728316|An asymptomatic cerebral infarction that was incidentally noted by T2 or fluid-attenuated inversion recovery (FLAIR) hyperintensities on an MRI of the brain.|NCI|N|
C2732267|A hearing disorder characterized by impaired transmission of signals through the auditory nerve, resulting in mild to severe hearing loss and poor speech perception.|NCI|N|
C2732374|An abnormal accumulation of fluid beneath the skin on the back of the hands.|HPO|N|
C2732401|Type I diabetes mellitus in which the blood glucose levels over time are kept within a range such that tests that reflect long-term variation of blood glucose, such as HbA1c, do not exceed limits that are expected to be achieved by available therapies.|SNOMEDCT_US|N|
C2732402|Type I diabetes mellitus in which the blood glucose levels over time exceed levels such that tests that reflect long-term variation of blood glucose, such as HbA1c, exceed limits that are expected to be achieved by available therapies.|SNOMEDCT_US|N|
C2732413|Post-exertional symptom exacerbation (PESE), also referred to as post-exertional malaise (PEM), is defined as the worsening of symptoms that can follow minimal cognitive, physical, emotional, or social activity, or activity that could previously be tolerated. Symptoms typically worsen 12 to 72 hours after activity and can last for days or even weeks, sometimes leading to a relapse.|HPO|N|
C2732463|Hypercholesterolemia in which the blood cholesterol levels over time do not exceed limits that are expected to be achieved by available therapies.|SNOMEDCT_US|N|
C2732473|Invasive breast carcinoma measuring 1 mm or less in size.|NCI|N|
C2732618|Polyps that arises from the large intestine and the appendix. They are characterized by the presence of serrated glands and the absence of generalized dysplasia.|NCI|N|
C2732653|A neurodevelopmental disorder characterized by core deficits in visual-spatial processing and a significant discrepancy between verbal and nonverbal intelligence (where verbal intelligence is higher).|MONDO|N|
C2732746|Lymph nodes with foci of metastatic neoplasm that measure <= 0.2 mm and consist of <= 200 cells|SNOMEDCT_US|N|
C2732838|A tumor (abnormal growth of tissue) of the skeleton.|HPO|N|
C2732890|A rare infectious disease characterized by painful, rapidly progressive infection of deep soft tissue structures. Infections can be mono- or polymicrobial and involve gram-positive cocci, enteric gram-negative bacilli, anaerobes, among others. Fungal infections have also been described in rare cases. Physical examination findings are often subtle and may include erythema, bullae, induration of subcutaneous tissues, and tenderness to palpation.|ORDO|N|
C2733106|Lymph nodes with foci of metastatic neoplasm that measure > 2mm|SNOMEDCT_US|N|
C2733146|Type II diabetes mellitus in which the blood glucose levels over time exceed levels such that tests that reflect long-term variation of blood glucose, such as HbA1c, exceed limits that are expected to be achieved by available therapies|SNOMEDCT_US|N|
C2733147|Type 2 diabetes mellitus in which the blood glucose levels over time are kept within a range such that tests that reflect long-term variation of blood glucose, such as HbA1c, do not exceed limits that are expected to be achieved by available therapies.|SNOMEDCT_US|N|
C2733158|Pathological processes or diseases where cerebral MICROVESSELS show abnormalities. They are often associated with aging, hypertension and risk factors for lacunar infarcts (see LACUNAR INFARCTION); LEUKOARAIOSIS; and CEREBRAL HEMORRHAGE.|MSH|N|
C2733359|An involuntary, compulsive, repetitive stereotyped movement.|NCI|N|
C2733483|A putative Borrelia infection causing acute manifestations similar to Lyme disease, particularly erythema migrans, following the bite of the lone star tick, Amblyomma americanum.|NCI|N|
C2733510|Number of lymph nodes with metastatic foci of neoplasm that measure > 0.2 mm but < 2 mm and/or consist of > 200 cells|SNOMEDCT_US|N|
C2733564|Full-thickness macular hole (FTMH) is defined as a foveal lesion with interruption of all retinal layers from the internal limiting membrane to the retinal pigment epithelium. Full-thickness macular hole is primary if caused by vitreous traction or secondary if directly the result of pathologic characteristics other than vitreomacular traction. Full-thickness macular hole is subclassified by size of the hole as determined by OCT and the presence or absence of vitreomacular traction.|HPO|N|
C2733623|A usually aggressive malignant neoplasm arising from the bone. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern.|NCI|N|
C2734068|A measurement of the length from the tip of the middle finger on one hand to the tip of the middle finger on the other hand with the individual standing against the wall with both arms abducted to 90 degrees, the elbows and wrists extended, and the palms facing directly forward. (Philip H. Quanjer, Andre Capderou, Mumtaz M. Mazicioglu, Ashutosh N. Aggarwal, Sudip Datta Banik, Stevo Popovic, Francis A.K. Tayie, Mohammad Golshan, Mary S.M. Ip, Marc Zelter. European Respiratory Journal 2014 44: 905-912)|NCI|N|
C2736131|The number of fetuses delivered live or dead at any time in the pregnancy, regardless of gestational age or if the fetuses were delivered at different dates in the pregnancy. (CDC)|NCI|N|
C2737003|A result that the margin is involved by invasive carcinoma.|NCI|N|
C2739810|A subtype of melanoma in situ that typically develops on sun-damaged skin. The lesion is typically a large, irregularly pigmented macule that has developed from an ordinary lentigo (a small pigmented spot on the skin with a clearly-defined edge). Change to a malignant lentigo typically takes place over 20 years or more, and many patients accept the change as a consequence of aging.|HPO|N|
C2741638|An ulcer due to stress.|NCI|N|
C2745945|Bestrophinopathies, the spectrum of ophthalmic disorders caused by pathogenic variants in BEST1, are typically characterized by retinal degeneration. The four recognized phenotypes are the three autosomal dominant disorders: Best vitelliform macular dystrophy (BVMD), BEST1 adult-onset vitelliform macular dystrophy (AVMD), and autosomal dominant vitreoretinochoroidopathy (ADVIRC); and autosomal recessive bestrophinopathy (ARB). Onset is usually in the first decade (except AVMD in which onset is age 30 to 50 years). Slow visual deterioration is the usual course. Choroidal neovascularization can occur in rare cases. ADVIRC is also associated with panophthalmic involvement including nanophthalmos, microcornea, hyperopia, and narrow anterior chamber angle with angle closure glaucoma.|GeneReviews|N|
C2745948|Hyaline fibromatosis syndrome (HFS) is characterized by hyaline deposits in the papillary dermis and other tissues. It can present at birth or in infancy with severe pain with movement, progressive joint contractures, and often with severe motor disability, thickened skin, and hyperpigmented macules/patches over bony prominences of the joints. Gingival hypertrophy, skin nodules, pearly papules of the face and neck, and perianal masses are common. Complications of protein-losing enteropathy and failure to thrive can be life threatening. Cognitive development is normal. Many children with the severe form (previously called infantile systemic hyalinosis) have a significant risk of morbidity or mortality in early childhood; some with a milder phenotype (previously called juvenile hyaline fibromatosis) survive into adulthood.|GeneReviews|N|
C2745953|Odontochondrodysplasia, also called Goldblatt syndrome, is a very rare syndrome associating chondrodysplasia with dentinogenesis imperfecta. To date, 11 patients have been reported. Chondrodysplasia has characteristics of mesomelic limb shortening, joint laxity, platyspondyly with coronal clefts, brachydactyly and coxa valga. The affected patients have no intellectual deficit. The condition is most probably hereditary, transmitted as an autosomal recessive trait.|SNOMEDCT_US|N|
C2745959|Spondyloepiphyseal dysplasia congenita (SEDC) is an autosomal dominant chondrodysplasia characterized by disproportionate short stature (short trunk), abnormal epiphyses, and flattened vertebral bodies. Skeletal features are manifested at birth and evolve with time. Other features include myopia and/or retinal degeneration with retinal detachment and cleft palate (summary by Anderson et al., 1990).|OMIM|N|
C2745963|Disabling osteochondrodysplasia with osteosclerosis, cone-shaped metaphysis, and shortening of the diaphysis. It is endemic in parts of Siberia and northern China. Mineral deficiencies (e.g., selenium, iodine), fungal cereal contamination, and water contamination may be contributing factors in its etiology.|MONDO|N|
C2745965|Situations or conditions requiring immediate intervention to avoid serious adverse results.|MSH|N|
C2745996|This syndrome has characteristics of intellectual deficit, spasticity in the lower limbs (spastic paraplegia), pes cavus deformity of both feet, an abnormal gait, and palmar and plantar hyperkeratosis. It has been reported in four brothers. The mother of the affected boys had normal intelligence, plantar hyperkeratosis and a strong facial resemblance to her retarded sons. Her three daughters were normal. This syndrome most likely an X-linked recessive condition.|SNOMEDCT_US|N|
C2745997|Orofaciodigital syndrome type VI (OFD6), or Varadi syndrome, is a rare autosomal recessive disorder distinguished from other orofaciodigital syndromes by metacarpal abnormalities with central polydactyly and by cerebellar abnormalities, including the molar tooth sign (summary by Doss et al., 1998 and Lopez et al., 2014).|OMIM|N|
C2746066|Combined D,L-2-HGA causes severe brain abnormalities that become apparent in early infancy. Affected infants have severe seizures, weak muscle tone (hypotonia), and breathing and feeding problems. They usually survive only into infancy or early childhood.\n\nL-2-HGA particularly affects a region of the brain called the cerebellum, which is involved in coordinating movements. As a result, many affected individuals have problems with balance and muscle coordination (ataxia). Additional features of L-2-HGA can include delayed development, seizures, speech difficulties, and an unusually large head (macrocephaly). Typically, signs and symptoms of this disorder begin during infancy or early childhood. The disorder worsens over time, usually leading to severe disability by early adulthood.\n\nThe main features of D-2-HGA are delayed development, seizures, weak muscle tone (hypotonia), and abnormalities in the largest part of the brain (the cerebrum), which controls many important functions such as muscle movement, speech, vision, thinking, emotion, and memory. Researchers have described two subtypes of D-2-HGA, type I and type II. The two subtypes are distinguished by their genetic cause and pattern of inheritance, although they also have some differences in signs and symptoms. Type II tends to begin earlier and often causes more severe health problems than type I. Type II may also be associated with a weakened and enlarged heart (cardiomyopathy), a feature that is typically not found with type I.\n\n2-hydroxyglutaric aciduria is a condition that causes progressive damage to the brain. The major types of this disorder are called D-2-hydroxyglutaric aciduria (D-2-HGA), L-2-hydroxyglutaric aciduria (L-2-HGA), and combined D,L-2-hydroxyglutaric aciduria (D,L-2-HGA).|MedlinePlus Genetics|N|
C2746068|FLNA deficiency is associated with a phenotypic spectrum that includes FLNA-related periventricular nodular heterotopia (Huttenlocher syndrome), congenital heart disease (patent ductus arteriosus, atrial and ventricular septal defects), valvular dystrophy, dilation and rupture of the thoracic aortic, pulmonary disease (pulmonary hypertension, alveolar hypoplasia, emphysema, asthma, chronic bronchitis), gastrointestinal dysmotility and obstruction, joint hypermobility, and macrothrombocytopenia.|GeneReviews|N|
C2746083|Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the LOXHD1 gene.|MONDO|N|
C2747813|The detection of bacteria in or on an anatomic site, medical device or biospecimen.|NCI|N|
C2747816|Acute malaria with signs of organ dysfunction, severe anemia (hemoglobin less than 5 g/dL or hematocrit less than 15%) and/or hyperparasitemia (greater than 5% of red blood cells infected).|NCI|N|
C2747866|Sudden occurrence of BRADYCARDIA or HEART ARREST induced by manipulations of the MAXILLARY NERVE AND MANDIBULAR NERVE during a craniomaxillofacial or oral surgery. It is the maxillary and mandibular variants of OCULOCARDIAC REFLEX.|MSH|N|
C2748055|A decreased concentration of insulin in the blood.|HPO|N|
C2748203|Perifoveal vitreous separation with remaining vitreomacular attachment and unperturbed foveal morphologic features. It is an OCT finding that is almost always the result of normal vitreous aging, which may lead to pathologic conditions.|HPO|N|
C2748208|Cognitive, emotional, and behavioral difficulties that often occur in conjunction with frontal lobe disorders, including traumatic injury and dementia. It is also a feature of attention deficit disorder and other non-trauma-induced conditions.|NCI|N|
C2748363|An autoimmune form of peripheral neuropathy.|MONDO|N|
C2748501|Increased susceptibility to infection by the protozan parasite of the genus Leishmania.|HPO|N|
C2748502|A very rare form of stromal corneal dystrophy with characteristics of irregular amorphous sheet-like opacities in the posterior corneal stroma and in the Descemet membrane along with mildly impaired vision. Prevalence of this form of corneal dystrophy is not known. To date cases have been reported primarily in the USA. Patients usually develop corneal abnormalities in infancy or childhood. The condition is non-progressive or slowly progressive. Unlike other corneal dystrophies, non-corneal manifestations have been observed and include abnormalities of the iris including iridocorneal adhesions, corectopia, and pseudopolycoria. An autosomal dominant pattern of inheritance has been reported.|SNOMEDCT_US|N|
C2748503|A very rare form of superficial corneal dystrophy with characteristics of frequent recurrent corneal erosions in the first decade of life and progressive loss of vision. The condition has only been reported in one single family. Painful episodes of recurrent corneal erosions occur in the first decade of life but decrease during adolescence. Later in life, patients are reported to develop subepithelial opacities and a corneal haze. The disease eventually progresses over time leading to corneal opacities and loss of vision. The gene related to this disease has not been mapped to a particular chromosomal locus.|SNOMEDCT_US|N|
C2748504|A rare complication of acute pulmonary embolism (PE), either symptomatic or not, that is characterized by fibrotic intravascular material occlusion of pulmonary arteries in combination with a secondary microvasculopathy of vessels less than 500 &#181;m. The consequence is an increase in pulmonary vascular resistance (PVR) and progressive right heart failure.|ORDO|N|
C2748506|Restless legs syndrome (RLS) is a neurologic sleep/wake disorder characterized by uncomfortable and unpleasant sensations in the legs that appear at rest, usually at night, inducing an irresistible desire to move the legs. The disorder results in nocturnal insomnia and chronic sleep deprivation (Bonati et al., 2003).
For additional information and a discussion of genetic heterogeneity of restless legs syndrome, see RLS1 (102300).|OMIM|N|
C2748507|Chronic recurrent multifocal osteomyelitis-2 with periostitis and pustulosis (CRMO2) is an autosomal recessive multisystemic autoinflammatory disorder characterized by onset of symptoms in early infancy. Affected individuals present with joint swelling and pain, pustular rash, oral mucosal lesions, and fetal distress. The disorder progresses in severity to generalized severe pustulosis or ichthyosiform lesions and diffuse bone lesions. Radiographic studies show widening of the anterior rib ends, periosteal elevation along multiple long bones, multifocal osteolytic lesions, heterotopic ossification, and metaphyseal erosions of the long bones. Laboratory studies show elevation of inflammatory markers. The disorder results from unopposed activation of the IL1 inflammatory signaling pathway. Treatment with the interleukin-1 receptor antagonist anakinra may result in clinical improvement (Aksentijevich et al., 2009).
For a discussion of genetic heterogeneity of CRMO, see 609628.|OMIM|N|
C2748508|Narcolepsy also affects nighttime sleep. Most affected individuals have trouble sleeping for more than a few hours at night. They often experience vivid hallucinations while falling asleep (hypnogogic hallucinations) or while waking up (hypnopompic hallucinations). Affected individuals often have realistic and distressing dreams, and they may act out their dreams by moving excessively or talking in their sleep. Many people with narcolepsy also experience sleep paralysis, which is an inability to move or speak for a short period while falling asleep or awakening. The combination of hallucinations, vivid dreams, and sleep paralysis is often frightening and unpleasant for affected individuals.\n\nAnother common feature of narcolepsy is cataplexy, which is a sudden loss of muscle tone in response to strong emotion (such as laughing, surprise, or anger). These episodes of muscle weakness can cause an affected person to slump over or fall, which occasionally leads to injury. Episodes of cataplexy usually last just a few seconds, and they may occur from several times a day to a few times a year. Most people diagnosed with narcolepsy also have cataplexy. However, some do not, which has led researchers to distinguish two major forms of the condition: narcolepsy with cataplexy and narcolepsy without cataplexy.\n\nNarcolepsy is characterized by excessive daytime sleepiness. Affected individuals feel tired during the day, and several times a day they may experience an overwhelming urge to sleep. "Sleep attacks" can occur at unusual times, such as during a meal or in the middle of a conversation. They last from a few seconds to a few minutes and often lead to a longer nap, after which affected individuals wake up feeling refreshed.\n\nSome people with narcolepsy have all of the major features of the disorder, while others have only one or two. Most of the signs and symptoms persist throughout life, although episodes of cataplexy may become less frequent with age and treatment.\n\nNarcolepsy is a chronic sleep disorder that disrupts the normal sleep-wake cycle. Although this condition can appear at any age, it most often begins in adolescence.|MedlinePlus Genetics|N|
C2748515|This form of brachyolmia, here designated brachyolmia type 4, is characterized by short-trunk stature with normal intelligence and facies. The radiographic features include rectangular vertebral bodies with irregular endplates and narrow intervertebral discs, precocious calcification of rib cartilages, short femoral neck, mildly shortened metacarpals, and mild epiphyseal and metaphyseal changes of the tubular bones (summary by Miyake et al., 2012).|OMIM|N|
C2748527|Keratosis follicularis spinulosa decalvans (KFSD) is an uncommon genodermatosis characterized by follicular hyperkeratosis, progressive cicatricial alopecia, and photophobia. Most reported cases show X-linked inheritance (KFSDX; 308800) (Castori et al., 2009).|OMIM|N|
C2748531|Presence of excess fibrous connective tissue surrounding hair follicules.|HPO|N|
C2748535|Hypotrichosis-5 (HYPT5), also known as Marie Unna hereditary hypotrichosis-2 (MUHH2), is a form of hereditary hypotrichosis characterized by twisting hair. Affected individuals have little or no scalp hair at birth, wiry and irregular scalp hair in childhood, and sparse or no forehead and parietal hair at puberty. Eyebrows and eyelashes are thin, and pubic and axillary hair fails to develop. Scarring alopecia is modest, and vertex hair is normal (summary by Zhang et al., 2012).
For a general phenotypic description of Marie Unna hereditary hypotrichosis, see MUHH1 (146550).
For a discussion of genetic heterogeneity of nonsyndromic hypotrichosis, see 605389.|OMIM|N|
C2748536|Leukocyte adhesion deficiency-3 (LAD3), also known as LAD1 variant (LAD1V), is an autosomal recessive disorder characterized by LAD1 (116920)-like immune deficiency and Glanzmann thrombasthenia (GT; 273800)-like bleeding problems. LAD3 results from mutations in FERMT3, or KINDLIN3, which encodes an intracellular protein that interacts with beta-integrins in hematopoietic cells. In LAD3, the adhesive functions of integrins on both leukocytes and platelets are disrupted, most likely due to defects in activation-dependent alterations of surface integrins that enable high-avidity binding to ligands on target cells, a process termed 'inside-out signaling' (Svensson et al., 2009; Zimmerman, 2009).
For a discussion of genetic heterogeneity of leukocyte adhesion deficiency, see 116920.|OMIM|N|
C2748541|Brugada syndrome is characterized by cardiac conduction abnormalities (ST segment abnormalities in leads V1-V3 on EKG and a high risk for ventricular arrhythmias) that can result in sudden death. Brugada syndrome presents primarily during adulthood, although age at diagnosis may range from infancy to late adulthood. The mean age of sudden death is approximately 40 years. Clinical presentations may also include sudden infant death syndrome (SIDS; death of a child during the first year of life without an identifiable cause) and sudden unexpected nocturnal death syndrome (SUNDS), a typical presentation in individuals from Southeast Asia. Other conduction defects can include first-degree AV block, intraventricular conduction delay, right bundle branch block, and sick sinus syndrome.|GeneReviews|N|
C2748542|A disease involving the conducting system of heart.|MONDO|N|
C2748544|A new form of skeletal dysplasia with manifestations of severe short stature, facial dysmorphism and characteristic radiographic findings. To date, three cases have been described, all originating from the same family. The disease results from a missense mutation affecting the C-type lectin domain of aggrecan (AGC1 gene; chromosome 15) which regulates endochondral ossification. Transmission is autosomal recessive.|SNOMEDCT_US|N|
C2748545|Question mark ears (QME) is an auricular abnormality characterized by a cleft between the lobule and the lower part of the helix, sometimes accompanied by a prominent or deficient upper part of the helix, shallow skin dimple on the posterior surface of the ear, or transposition of the ear lobe/antitragus. It is more prevalent among boys than girls (2:1), usually sporadic, and can be unilateral or bilateral (Shkalim et al., 2008).|OMIM|N|
C2748550|An inflammatory bowel disease that has material basis in variation in the chromosome region 13q13.3|MONDO|N|
C2748551|Polyunsaturated fatty acids (PUFA), particularly those of the n-3 or omega-3 family, have been associated with decreased risk of cardiovascular and other chronic diseases (Tanaka et al., 2009).|OMIM|N|
C2748552|Any atrial heart septal defect in which the cause of the disease is a mutation in the ACTC1 gene.|MONDO|N|
C2748554|An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 8p22-p21.3.|MONDO|N|
C2748557|Immunodeficiency-10 (IMD10) is an autosomal recessive primary immunodeficiency characterized by onset of recurrent infections in childhood due to defective T- and NK-cell function, although the severity is variable. Affected individuals may also have hypotonia, hypohidrosis, or dental enamel hypoplasia consistent with amelogenesis imperfecta (summary by Parry et al., 2016).|OMIM|N|
C2748568|Immunodeficiency-9 (IMD9) is an autosomal recessive disorder characterized by early onset of recurrent infections due to defective T-cell activation. Affected individuals also have congenital myopathy resulting in muscle weakness as well as features of ectodermal dysplasia, including soft dental enamel (summary by McCarl et al., 2009).|OMIM|N|
C2748571|IGHD type IB is an autosomal recessive disorder characterized by low but detectable levels of GH, short stature (more than 2 SD below the mean for age and sex), delayed bone age, and a good response to rhGH treatment without antibody formation (summary by Alatzoglou et al., 2014).
For general phenotypic information and a discussion of genetic heterogeneity of IGHD, see 262400.|OMIM|N|
C2748572|Syndrome with characteristics of seizures, sensorineural deafness, ataxia, intellectual deficit, and electrolyte imbalance. It has been described in five patients from four families. The disease is caused by homozygous or compound heterozygous mutations in the KCNJ10 gene, encoding a potassium channel expressed in the brain, spinal cord, inner ear and kidneys. Transmission is autosomal recessive.|SNOMEDCT_US|N|
C2748576|An abnormally increased sodium concentration in the urine in the presence of hyponatremia.|HPO|N|
C2748587|Hypoglossia with situs inversus is a very rare congenital condition that likely represents a developmental field defect. Only sporadic cases have been reported (Faqeih et al., 2008).
Hypoglossia is part of a group of malformation syndromes collectively termed 'oromandibular limb hypogenesis syndromes,' that usually include limb defects. Hall (1971) provided a classification system (see 103300). See also agnathia with holoprosencephaly (202650), which shows hypoglossia and situs inversus in addition to severe neurodevelopmental defects.|OMIM|N|
C2748662|Mitchell-Riley syndrome is characterized by neonatal diabetes, pancreatic hypoplasia, intestinal atresia, and gallbladder aplasia or hypoplasia. There is considerable phenotypic overlap between Mitchell-Riley syndrome and Martinez-Frias syndrome (601346), the latter being characterized by the features of the Mitchell-Riley syndrome except for neonatal diabetes, and including tracheoesophageal fistula in some patients (Smith et al., 2010).|OMIM|N|
C2748682|Decreased length of the eyelashes (subjective).|HPO|N|
C2748698|Infiltration of portal fields by inflammatory cells.|HPO|N|
C2748701|The formation of tissue in the lumen of the jejunum that results in partial obstruction.|NCI|N|
C2748755|Cleavage within the epidermal keratinocytes, which is the innermost layer of the epidermis and consists of proliferating cells that give rise to the outer layers of the epidermis.|HPO|N|
C2748783|Vitamin D-dependent rickets type 2B with normal vitamin D receptor (VDDR2B) is an unusual form of rickets due to abnormal expression of a hormone response element-binding protein that interferes with the normal function of the vitamin D receptor.
Vitamin D-dependent rickets type 2A (VDDR2A) is caused by mutation in the vitamin D receptor gene (VDR; 601769), and most patients have alopecia in addition to rickets.
For a general phenotypic description and a discussion of genetic heterogeneity of rickets due to disorders in vitamin D metabolism or action, see vitamin D-dependent rickets type 1A (VDDR1A; 264700).|OMIM|N|
C2748801|Congenital fibrosis of the extraocular muscles (CFEOM) encompasses several different inherited strabismus syndromes characterized by congenital restrictive ophthalmoplegia affecting extraocular muscles innervated by the oculomotor and/or trochlear nerves. If all affected members of a family have classic CFEOM with bilateral involvement and inability to raise the eyes above midline, the phenotype is classified as CFEOM1 (135700). CFEOM2 (602078) shows autosomal recessive inheritance. CFEOM3 is characterized by autosomal dominant inheritance of a more variable phenotype than classic CFEOM1. Individuals with CFEOM3 may not have bilateral involvement, may be able to raise the eyes above midline, or may not have blepharoptosis (reviews by Yamada et al., 2004 and Heidary et al., 2008).
Yamada et al. (2003) concluded that CFEOM3 is a relatively rare form of CFEOM.
Genetic Heterogeneity of CFEOM3
The CFEOM3 phenotype is genetically heterogeneous; see also CFEOM3B (135700), caused by mutation in the KIF21A gene on chromosome 12q12, and CFEOM3C (609384), which maps to chromosome 13q.|OMIM|N|
C2748895|Nonsyndromic 46,XX testicular disorders/differences of sex development (DSD) are characterized by: the presence of a 46,XX karyotype; external genitalia ranging from typical male to ambiguous; two testicles; azoospermia; absence of müllerian structures; and absence of other syndromic features, such as congenital anomalies outside of the genitourinary system, learning disorders / cognitive impairment, or behavioral issues. Approximately 85% of individuals with nonsyndromic 46,XX testicular DSD present after puberty with normal pubic hair and normal penile size but small testes, gynecomastia, and sterility resulting from azoospermia. Approximately 15% of individuals with nonsyndromic 46,XX testicular DSD present at birth with ambiguous genitalia. Gender role and gender identity are reported as male. If untreated, males with 46,XX testicular DSD experience the consequences of testosterone deficiency.|GeneReviews|N|
C2748896|Sex reversal in an individual with 46,XY karyotype caused by point mutations or deletions in the SRY gene, encoding sex-determining region Y protein.|NCI|N|
C2748897|Individuals with 46,XY complete gonadal dysgenesis are phenotypically female; however, they do not develop secondary sexual characteristics at puberty and do not menstruate. They have bilateral 'streak gonads,' which typically consist of fibrous tissue and variable amounts of wavy ovarian stroma. A uterus and fallopian tube are present and external genitalia are female (reviewed by Berkovitz et al., 1991).
Genetic Heterogeneity of 46,XY Sex Reversal
Male sexual determination is initiated by Y-chromosomal SRY, which activates a cascade of genes that lead the embryonic gonad to develop into a testis. Fetal testicular Sertoli cells then produce mullerian inhibitory substance (600957), which is responsible for the involution of the mullerian ducts, which would otherwise develop into the uterus, fallopian tubes, and cervix. Fetal testicular Leydig cells produce testosterone from cholesterol by the sequential action of a series of enzymes. Subsequent differentiation of male external genitalia also requires the action of dihydrotestosterone, produced from testicular testosterone. Perturbations in the enzymes in this classic pathway or in an alternative pathway of testicular androgen biosynthesis can result in genetic males with disordered sexual development and incompletely developed ('ambiguous') external genitalia (summary by Fluck et al., 2011).
Disorders of male development for which a genetic cause has been found include 46,XY sex reversal-2 (SRXY2; 300018), which is caused by duplication of the NR0B1 gene (300473) on chromosome Xp21.3-p21.2; SRXY3 (612965), caused by mutation in the NR5A1 gene (184757) on chromosome 9q33; SRXY4 (154230), caused by deletion on chromosome 9p24.3; SRXY5 (613080), caused by mutation in the CBX2 gene (602770) on chromosome 17q25; SRXY6 (613762), caused by mutation in the MAP3K1 gene (600982) on chromosome 5q11.2; SRXY7 (233420), caused by mutation in the DHH gene (605423) on chromosome 12q13; SRXY8 (614279), caused by mutation in the AKR1C2 gene (600450) on chromosome 10p15, with a possible contribution from the closely linked AKR1C4 gene (600451); SRXY9 (616067), caused by mutation in the ZFPM2 gene (603693) on chromosome 8q23; and SRXY10 (616425), caused by deletion of the XYSR regulatory region -640 kb upstream of the SOX9 gene (608160) on chromosome 17q24.
Wilhelm and Koopman (2006) reviewed male sexual development and the genetics of disorders of human sexual development, noting that most cases of XY sex reversal, SRY-negative XX sex reversal, and true hermaphroditism remained unexplained at the molecular level.|OMIM|N|
C2748910|A neurodevelopmental disorder that is diagnosed when a child presents with a Rett-like syndrome but does not fulfil all the diagnostic criteria for typical Rett syndrome. Several subvariants have been defined; the early-onset seizure type (Hanefeld), congenital variant (Rolando), the ''forme fruste'' type, the late childhood regression form and the preserved speech variant (PSD or Zappella variant). Diagnosis relies on clinical evaluation using the diagnostic criteria for atypical Rett originally defined by Hagberg in 1994: an atypical case must meet at least three of the six main criteria and at least five of the eleven supportive criteria.|SNOMEDCT_US|N|
C2748918|A primary bone dysplasia disorder that encompasses a group of congenital anomalies that are characterised by skeletal dysplasia of varying clinical severity and an X linked dominant pattern of inheritance. This group includes otopalatodigital syndrome type 1 and 2 (OPD1, OPD2) which are characterised in affected males by cleft palate, conductive hearing loss, craniofacial abnormalities and skeletal dysplasia; Melnick-Needles syndrome (MNS) which displays skeletal deformities in females and embryonic or perinatal lethality in most males; frontometaphyseal dysplasia (FMD); and terminal osseous dysplasia - pigmentary defects.|SNOMEDCT_US|N|
C2748941|Any glycogen storage disease in which the cause of the disease is a mutation in the PHKA2 gene, with no PHK in liver, but normal activity in erythrocytes.|MONDO|N|
C2748951|Decrease in the amount of enamel.|NCI|N|
C2749007|The int22h1/int22h2-mediated Xq28 duplication syndrome is an X-linked intellectual disability syndrome characterized by variable degrees of cognitive impairment (typically more severe in males), a wide spectrum of neurobehavioral abnormalities, and variable facial dysmorphic features. Affected males also exhibit a peculiar combination of recurrent sinopulmonary infections and atopy, findings that have not been observed in affected females. All males reported to date with the syndrome have moderate-to-severe intellectual disability; in contrast, a minority of heterozygous females have been reported to have mild intellectual disability, while the majority have no discernible health or learning issues and are considered clinically unaffected.|GeneReviews|N|
C2749016|A hemostatic disorder characterized by a tendency to thrombosis that has X-linked recessive inheritance, and can be caused by a gain-of-function mutation in the gene encoding factor IX (F9).|MONDO|N|
C2749019|Classic Joubert syndrome (JS) is characterized by three primary findings: A distinctive cerebellar and brain stem malformation called the molar tooth sign (MTS). Hypotonia. Developmental delays. Often these findings are accompanied by episodic tachypnea or apnea and/or atypical eye movements. In general, the breathing abnormalities improve with age, truncal ataxia develops over time, and acquisition of gross motor milestones is delayed. Cognitive abilities are variable, ranging from severe intellectual disability to normal. Additional findings can include retinal dystrophy, renal disease, ocular colobomas, occipital encephalocele, hepatic fibrosis, polydactyly, oral hamartomas, and endocrine abnormalities. Both intra- and interfamilial variation are seen.|GeneReviews|N|
C2749020|Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the ZNF711 gene.|MONDO|N|
C2749022|Familial and <i>de novo</i> recurrent Xp11.22-p11.23 microduplication has been recently identified in males and females.|ORDO|N|
C2749049|A rare subtype of posterior corneal dystrophy with characteristics of congenital ground glass corneal clouding or a diffuse corneal haze, and blurred vision in male patients. Prevalence of this rare corneal dystrophy is unknown. Males are affected more severely than females. The condition is progressive in males and non-progressive in females. Has been mapped to the long arm of the X-chromosome (Xq25) but the causative gene has not been identified. Transmission is X-linked recessive.|SNOMEDCT_US|N|
C2749050|Lisch epithelial corneal dystrophy (LECD) is characterized by corneal bands of whorled, feathery, gray opacities of varying widths. The opaque bands consist of clear, densely crowded, intraepithelial blisters. Vision may be impaired if the bands involve the central cornea (Lisch et al., 1992; Lisch et al., 2000).
Reviews
Lisch and Weiss (2019) provided a clinical and genetic update of the corneal dystrophies. They noted that LECD shows slow progression, and may result in blurred vision if the pupillary axis is involved. Indirect illumination focusing on the corneal epithelium reveals crowded clear microcysts, which are the clinical hallmark of LECD.|OMIM|N|
C2749137|X-linked retinitis pigmentosa and sinorespiratory infections with or without deafness (RPSRDF) is characterized by typical features of RP, including night blindness, constricted visual fields, progressive reduction in visual acuity, bone-spicule pigmentation, and extinguished responses on electroretinography. Affected individuals also experience severe recurrent sinorespiratory infections, and some develop progressive hearing loss. Carrier females may show an attenuated ocular and/or respiratory phenotype (Zito et al., 2003; Moore et al., 2006).|OMIM|N|
C2749161|Underdevelopment of the paranasal sinuses.|HPO|N|
C2749202|An anomaly of the muscular contractions that propel food though the gastrointestinal tract.|HPO|N|
C2749215|Nonsyndromic 46,XX testicular disorders/differences of sex development (DSD) are characterized by: the presence of a 46,XX karyotype; external genitalia ranging from typical male to ambiguous; two testicles; azoospermia; absence of müllerian structures; and absence of other syndromic features, such as congenital anomalies outside of the genitourinary system, learning disorders / cognitive impairment, or behavioral issues. Approximately 85% of individuals with nonsyndromic 46,XX testicular DSD present after puberty with normal pubic hair and normal penile size but small testes, gynecomastia, and sterility resulting from azoospermia. Approximately 15% of individuals with nonsyndromic 46,XX testicular DSD present at birth with ambiguous genitalia. Gender role and gender identity are reported as male. If untreated, males with 46,XX testicular DSD experience the consequences of testosterone deficiency.|GeneReviews|N|
C2749346|Adult Refsum disease (ARD is associated with elevated plasma phytanic acid levels, late childhood-onset (or later) retinitis pigmentosa, and variable combinations of anosmia, polyneuropathy, deafness, ataxia, and ichthyosis. Onset of symptoms ranges from age seven months to older than age 50 years. Cardiac arrhythmia and heart failure caused by cardiomyopathy are potentially severe health problems that develop later in life.|GeneReviews|N|
C2749369|Prominent positioning of the premaxilla in relation to the rest of the maxilla, the facial skeleton, or mandible. Not necessarily caused by an increase in size (hypertrophy of) the premaxilla.|HPO|N|
C2749404|An indication that signs of necrosis were not found in a sample.|NCI|N|
C2749457|An increased amount of prostaglandin E2 in the urine.|HPO|N|
C2749463|A small/hypoplastic or absent/aplastic radius.|HPO|N|
C2749477|Autosomal recessive form of oculodentodigital dysplasia.|MONDO|N|
C2749509|Myopia, or nearsightedness, is a refractive error of the eye. Light rays from a distant object are focused in front of the retina and those from a near object are focused in the retina; therefore distant objects are blurry and near objects are clear (summary by Kaiser et al., 2004).
For a discussion of genetic heterogeneity of susceptibility to myopia, see 160700.|OMIM|N|
C2749515|Segmental or global glomerulopathy with tuft wrinkling, collapse and contraction without increased matrix or cells, but with adjacent podocyte hypertrophy and hyperplasia.|NCI|N|
C2749559|Autosomal recessive congenital methemoglobinemia is an inherited condition that mainly affects the function of red blood cells. Specifically, it alters a molecule within these cells called hemoglobin. Hemoglobin carries oxygen to cells and tissues throughout the body. In people with autosomal recessive congenital methemoglobinemia, some of the normal hemoglobin is replaced by an abnormal form called methemoglobin, which is unable to deliver oxygen to the body's tissues. As a result, tissues in the body become oxygen deprived, leading to a bluish appearance of the skin, lips, and nails (cyanosis).\n\nThere are two forms of autosomal recessive congenital methemoglobinemia: types I and II. People with type I have cyanosis from birth and may experience weakness or shortness of breath related to the shortage of oxygen in their tissues. People with type II have cyanosis as well as severe neurological problems. After a few months of apparently normal development, children with type II develop severe brain dysfunction (encephalopathy), uncontrolled muscle tensing (dystonia), and involuntary limb movements (choreoathetosis); also, the size of their head remains small and does not grow in proportion with their body (microcephaly). People with type II have severe intellectual disability; they can recognize faces and usually babble but speak no words. They can sit unassisted and grip objects but have impaired motor skills that leave them unable to walk. In type II, growth is often slowed. Abnormal facial muscle movements can interfere with swallowing, which can lead to feeding difficulties and further slow growth.\n\nPeople with autosomal recessive congenital methemoglobinemia type I have a normal life expectancy, but people with type II often do not survive past early adulthood.|MedlinePlus Genetics|N|
C2749560|People with autosomal recessive congenital methemoglobinemia type I have a normal life expectancy, but people with type II often do not survive past early adulthood.\n\nThere are two forms of autosomal recessive congenital methemoglobinemia: types I and II. People with type I have cyanosis from birth and may experience weakness or shortness of breath related to the shortage of oxygen in their tissues. People with type II have cyanosis as well as severe neurological problems. After a few months of apparently normal development, children with type II develop severe brain dysfunction (encephalopathy), uncontrolled muscle tensing (dystonia), and involuntary limb movements (choreoathetosis); also, the size of their head remains small and does not grow in proportion with their body (microcephaly). People with type II have severe intellectual disability; they can recognize faces and usually babble but speak no words. They can sit unassisted and grip objects but have impaired motor skills that leave them unable to walk. In type II, growth is often slowed. Abnormal facial muscle movements can interfere with swallowing, which can lead to feeding difficulties and further slow growth.\n\nAutosomal recessive congenital methemoglobinemia is an inherited condition that mainly affects the function of red blood cells. Specifically, it alters a molecule within these cells called hemoglobin. Hemoglobin carries oxygen to cells and tissues throughout the body. In people with autosomal recessive congenital methemoglobinemia, some of the normal hemoglobin is replaced by an abnormal form called methemoglobin, which is unable to deliver oxygen to the body's tissues. As a result, tissues in the body become oxygen deprived, leading to a bluish appearance of the skin, lips, and nails (cyanosis).|MedlinePlus Genetics|N|
C2749582|An abnormal appearance of the long bones with resemblance to a dumbbell, a short bar with a weight at each end. That is, the long bone is shortened and displays flaring (widening) of the metaphyses.|HPO|N|
C2749602|Autoimmune problems affecting non-endocrine tissues can lead to a variety of additional signs and symptoms in people with APECED. These features occur more often in North American populations than in European populations. Rashes that resemble hives (urticarial eruptions) are common and often occur in infancy and early childhood. Other early signs and symptoms may include thin enamel on the teeth (enamel hypoplasia) and chronic diarrhea or constipation associated with difficulty in absorbing nutrients from food. Additional features that occur in people with APECED, many of which can lead to permanent organ and tissue damage if left untreated, include stomach irritation (gastritis), liver inflammation (hepatitis), lung irritation (pneumonitis), dry mouth and dry eyes (Sjogren-like syndrome), inflammation of the eyes (keratitis), kidney problems (nephritis), vitamin B12 deficiency, hair loss (alopecia), loss of skin color in blotches (vitiligo), high blood pressure (hypertension), or a small (atrophic) or absent spleen (asplenia).\n\nDamage to the small hormone-producing glands on top of each kidney (adrenal glands) results in a third major feature of APECED, adrenal gland insufficiency (autoimmune Addison disease). Reduced hormone production by the adrenal glands leads to signs and symptoms that can include fatigue, muscle weakness, loss of appetite, weight loss, low blood pressure, and changes in skin coloring. Other endocrine problems that can occur in APECED include type 1 diabetes resulting from impaired production of the hormone insulin; a shortage of growth hormone leading to short stature; problems affecting the internal reproductive organs (ovaries or testes) that can cause inability to conceive children (infertility); and dysfunction of the thyroid gland (a butterfly-shaped tissue in the lower neck), which can result in many symptoms including weight gain and fatigue.\n\nOther features of APECED result from the body's immune system attacking the network of hormone-producing glands (the endocrine system). The second characteristic feature of the disorder is hypoparathyroidism, which is a malfunction of the parathyroid glands.  These glands secrete a hormone that regulates the body's use of calcium and phosphorus. Damage to the parathyroid glands leads to reduced parathyroid hormone production (hypoparathyroidism). Hypoparathyroidism can cause a tingling sensation in the lips, fingers, and toes; muscle pain and cramping; weakness; and fatigue. Serious effects of hypoparathyroidism, such spasms of the voicebox (larynx) leading to breathing problems and seizures, can be life-threatening.\n\nCMC is a tendency to develop infections of the skin, the nails, and the moist lining of body cavities (mucous membranes) caused by a type of fungus called Candida. These infections, which are commonly known as yeast infections, are chronic, which means they recur and can last a long time. CMC is usually the first of the three characteristic features of APECED to become apparent in people with this disorder. Almost all affected individuals develop infections of the oral cavity (known as thrush). Infections of the tube that carries food from the mouth to the stomach (the esophagus) are also common, while the skin and nails are affected less often. In women, vaginal infections frequently occur.\n\nIn most cases, the signs and symptoms of APECED begin in childhood or adolescence. This condition commonly involves three characteristic features: chronic mucocutaneous candidiasis (CMC), hypoparathyroidism, and adrenal gland insufficiency.  Affected individuals typically have at least two of these features, and many have all three.\n\nAutoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is an inherited condition that affects many of the body's organs. It is one of many autoimmune diseases, which are disorders that occur when the immune system malfunctions and attacks the body's own tissues and organs by mistake.|MedlinePlus Genetics|N|
C2749604|Hemolytic-uremic syndrome (HUS) is characterized by hemolytic anemia, thrombocytopenia, and renal failure caused by platelet thrombi in the microcirculation of the kidney and other organs. The onset of atypical HUS (aHUS) ranges from the neonatal period to adulthood. Genetic aHUS accounts for an estimated 60% of all aHUS. Individuals with genetic aHUS frequently experience relapse even after complete recovery following the presenting episode; 60% of genetic aHUS progresses to end-stage renal disease (ESRD).|GeneReviews|N|
C2749625|Progressive impairment of function of motor axons with muscle weakness, atrophy, and cramps. The deficits are length-dependent, meaning that muscles innervated by the longest nerves are affected first, so that for instance the arms are affected at a later age than the onset of deficits involving the lower leg.|HPO|N|
C2749656|Folate-responsive megaloblastic anemia (MEGAF) is an autosomal recessive metabolic disorder characterized by megaloblastic anemia resulting from decreased folate transport into erythrocytes. Although serum levels of folate are normal, there is folate deficiency in tissues, including erythrocytes and possibly nerve cells. Serum homocysteine levels are increased and vitamin B12 levels may be decreased. Treatment with oral folate corrects the anemia and normalizes homocysteine (summary by Svaton et al., 2020)|OMIM|N|
C2749659|Most characteristically, Aicardi-Goutières syndrome (AGS) manifests as an early-onset encephalopathy that usually, but not always, results in severe intellectual and physical disability. A subgroup of infants with AGS present at birth with abnormal neurologic findings, hepatosplenomegaly, elevated liver enzymes, and thrombocytopenia, a picture highly suggestive of congenital infection. Otherwise, most affected infants present at variable times after the first few weeks of life, frequently after a period of apparently normal development. Typically, they demonstrate the subacute onset of a severe encephalopathy characterized by extreme irritability, intermittent sterile pyrexias, loss of skills, and slowing of head growth. Over time, as many as 40% develop chilblain skin lesions on the fingers, toes, and ears. It is becoming apparent that atypical, sometimes milder, cases of AGS exist, and thus the true extent of the phenotype associated with pathogenic variants in the AGS-related genes is not yet known.|GeneReviews|N|
C2749665|Split-hand/split-foot malformation (SHFM) is a limb malformation involving the central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals. Some patients with SHFM have been found to have mental retardation, ectodermal and craniofacial findings, and orofacial clefting (Elliott and Evans, 2006).
For a general phenotypic description and a discussion of genetic heterogeneity of split-hand/foot malformations, see SHFM1 (183600).|OMIM|N|
C2749670|Erythroblasts with multiple nuclei. Erythroblasts are nucleated precrusor cells of erythrocytes that are localized to the bone marrow. Normally, erythroblasts have a single nucleus. The abnormal finding of erythrocytes with two or more nuclei may be related to defects in cytokinesis.|HPO|N|
C2749675|An abnormality of the cerebral cortex with fewer gyri but with normal cortical thickness. This pattern is usually often associated with congenital microcephaly.|HPO|N|
C2749688|Glycosylated transferrin concentrations can be measured in serum as a marker of N-linked glycosylation fidelity. In the traditional nomenclature for congenital disorders of glycosylation, absence of entire glycans was designated type I, and loss of one or more monosaccharides as type II. These terms are retained for historical reasons but for new annotations the precise glycosylation defect should be recorded.|HPO|N|
C2749757|Bronchiectasis with or without elevated sweat chloride-1 (BESC1) is characterized by dilation of the airways arising from chronic bronchial inflammation accompanied by chronic cough, purulent sputum, and recurrent respiratory tract infections. Severity is variable, and some patients may be identified in adulthood and have normal respiratory function (Sheridan et al., 2005, Fajac et al., 2008).
Genetic Heterogeneity of Bronchiectasis with or without Elevated Sweat Chloride
Bronchiectasis with or without elevated sweat chloride-2 (BESC2; 613021) is caused by mutation in the gene encoding the alpha subunit of the epithelial sodium channel (SCNN1A; 600228) on chromosome 12p13, and BESC3 (613071) is caused by mutation in the gene encoding the gamma subunit (SCNN1G; 600761) on chromosome 16p12.
Bronchiectasis and elevated sweat chloride associated with pancreatic exocrine dysfunction and infertility are also features of cystic fibrosis (CF; 219700), which is caused by mutation in the CFTR gene (602421).|OMIM|N|
C2749759|Sitosterolemia is characterized by: Hypercholesterolemia (especially in children) which (1) shows an unexpected significant lowering of plasma cholesterol level in response to low-fat diet modification or to bile acid sequestrant therapy; or (2) does not respond to statin therapy; Tendon xanthomas or tuberous (i.e., planar) xanthomas that can occur in childhood and in unusual locations (heels, knees, elbows, and buttocks); Premature atherosclerosis, which can lead to angina, aortic valve involvement, myocardial infarction, and sudden death; Hemolytic anemia, abnormally shaped erythrocytes (stomatocytes), and large platelets (macrothrombocytopenia). On occasion, the abnormal hematologic findings may be the initial presentation or the only clinical feature of this disorder. Arthritis, arthralgias, and splenomegaly may sometimes be seen and one study has concluded that "idiopathic" liver disease could be undiagnosed sitosterolemia. The clinical spectrum of sitosterolemia is probably not fully appreciated due to underdiagnosis and the fact that the phenotype in infants is likely to be highly dependent on diet.|GeneReviews|N|
C2749861|Four phenotypes comprise the RRM2B mitochondrial DNA maintenance defects (RRM2B-MDMDs): RRM2B encephalomyopathic MDMD, the most severe phenotype, usually manifesting shortly after birth as hypotonia, poor feeding, and faltering growth requiring hospitalization. Subsequent assessments are likely to reveal multisystem involvement including sensorineural hearing loss, renal tubulopathy, and respiratory failure. Autosomal dominant progressive external ophthalmoplegia (adPEO), typically adult onset; other manifestations can include ptosis, bulbar dysfunction, fatigue, and muscle weakness. RRM2B autosomal recessive progressive external ophthalmoplegia (arPEO), a typically childhood-onset predominantly myopathic phenotype of PEO, ptosis, proximal muscle weakness, and bulbar dysfunction. RRM2B mitochondrial neurogastrointestinal encephalopathy (MNGIE)-like, characterized by progressive ptosis, ophthalmoplegia, gastrointestinal dysmotility, cachexia, and peripheral neuropathy. To date, 78 individuals from 52 families with a molecularly confirmed RRM2B-MDMD have been reported.|GeneReviews|N|
C2749864|SUCLA2-related mitochondrial DNA (mtDNA) depletion syndrome, encephalomyopathic form with methylmalonic aciduria is characterized by onset of the following features in infancy or childhood (median age of onset 2 months; range of onset birth to 6 years): psychomotor retardation, hypotonia, dystonia, muscular atrophy, sensorineural hearing impairment, postnatal growth retardation, and feeding difficulties. Other less frequent features include distinctive facial features, contractures, kyphoscoliosis, gastroesophageal reflux, ptosis, choreoathetosis, ophthalmoplegia, and epilepsy (infantile spasms or generalized convulsions). The median survival is 20 years; approximately 30% of affected individuals succumb during childhood. Affected individuals may have hyperintensities in the basal ganglia, cerebral atrophy, and leukoencephalopathy on head MRI. Elevation of methylmalonic acid (MMA) in the urine and plasma is found in a vast majority of affected individuals, although at levels that are far below those typically seen in individuals with classic methylmalonic aciduria.|GeneReviews|N|
C2749872|Childhood absence epilepsy is a subtype of idiopathic generalized epilepsy. For a general phenotypic description and a discussion of genetic heterogeneity of childhood absence epilepsy and idiopathic generalized epilepsy, see ECA1 (600131) and (600669), respectively.|OMIM|N|
C2749873|3q29 microduplication syndrome (also known as 3q29 duplication syndrome) is a condition that results from the copying (duplication) of a small piece of chromosome 3 in each cell. The duplication occurs on the long (q) arm of the chromosome at a position designated q29.\n\nThe features associated with 3q29 microduplication syndrome vary widely. Some individuals with this chromosomal change have very mild or no related signs and symptoms, and the duplication is discovered because they undergo genetic testing only after a family member is diagnosed. Other people with a 3q29 microduplication have delayed development (particularly speech delay) and intellectual disability or learning difficulties. Although most affected individuals have no major birth defects, eye abnormalities, heart defects, and an unusually small head (microcephaly) can occur. 3q29 microduplication syndrome may increase the likelihood of being overweight or having obesity, although it is hard to determine whether these weight issues are caused by the duplication.|MedlinePlus Genetics|N|
C2749936|Spastic paraplegia-18B (SPG18B) is a severe autosomal recessive neurologic disorder characterized by onset in early childhood of progressive spastic paraplegia resulting in motor disability. Most affected individuals have severe psychomotor retardation. Some may develop significant joint contractures (summary by Alazami et al., 2011 and Yildirim et al., 2011).|OMIM|N|
C2749982|Thyrotoxic periodic paralysis is a sporadic muscle disorder characterized by episodic attacks of weakness associated with hypokalemia in individuals with hyperthyroidism. The paralysis resolves upon treatment of hyperthyroidism. The disorder is most common among males of Asian descent, including Chinese, Japanese, Vietnamese, Filipino, and Koreans, although it occurs less commonly in individuals of Caucasian background. Thyrotoxic periodic paralysis is clinically similar to hereditary hypokalemic periodic paralysis (HOKPP; 170400), but the paralysis in TTPP occurs only in the presence of hyperthyroidism. TTPP can also be precipitated by factors that result in hypokalemia, such as carbohydrate ingestion and rest after exercise (review by Kung, 2006).
Genetic Heterogeneity of Thyrotoxic Periodic Paralysis
See also TTPP2 (613239), conferred by variation in the KCNJ18 gene (613236) on chromosome 17p11, and TTPP3 (614834), mapped to chromosome 17q24.|OMIM|N|
C2750035|Emery-Dreifuss muscular dystrophy is characterized classically by the triad of weakness of the shoulder and pelvic girdle muscles, contractures of the elbows, neck, and Achilles tendon, and cardiac involvement, most commonly arrhythmias (summary by Jimenez-Escrig et al., 2012).
For a discussion of genetic heterogeneity of EDMD, see 310300.|OMIM|N|
C2750061|Hypokalemic periodic paralysis (hypoPP) is a condition in which affected individuals may experience paralytic episodes with concomitant hypokalemia (serum potassium <3.5 mmol/L). The paralytic attacks are characterized by decreased muscle tone (flaccidity) more marked proximally than distally with normal to decreased deep tendon reflexes. The episodes develop over minutes to hours and last several minutes to several days with spontaneous recovery. Some individuals have only one episode in a lifetime; more commonly, crises occur repeatedly: daily, weekly, monthly, or less often. The major triggering factors are cessation of effort following strenuous exercise and carbohydrate-rich evening meals. Additional triggers can include cold, stress/excitement/fear, salt intake, prolonged immobility, use of glucosteroids or alcohol, and anesthetic procedures. The age of onset of the first attack ranges from two to 30 years; the duration of paralytic episodes ranges from one to 72 hours with an average of nearly 24 hours. Long-lasting interictal muscle weakness may occur in some affected individuals and in some stages of the disease and in myopathic muscle changes. A myopathy may occur independent of paralytic symptoms and may be the sole manifestation of hypoPP.|GeneReviews|N|
C2750063|Autosomal recessive childhood-onset severe retinal dystrophy is a heterogeneous group of disorders affecting rod and cone photoreceptors simultaneously. The most severe cases are termed Leber congenital amaurosis, whereas the less aggressive forms are usually considered juvenile retinitis pigmentosa (Gu et al., 1997).
For a general phenotypic description and a discussion of genetic heterogeneity of Leber congenital amaurosis, see LCA1 (204000); for retinitis pigmentosa, see 268000.|OMIM|N|
C2750066|Spondylo-megaepiphyseal-metaphyseal dysplasia is a rare autosomal recessive skeletal dysplasia characterized by disproportionate short stature with a short and stiff neck and trunk; relatively long limbs that may show flexion contractures of the distal joints; delayed and impaired ossification of the vertebral bodies and the presence of large epiphyseal ossification centers and wide growth plates in the long tubular bones; and numerous pseudoepiphyses of the short tubular bones in hands and feet (summary by Hellemans et al., 2009).|OMIM|N|
C2750067|Untreated complete plasminogen activator inhibitor 1 (PAI-1) deficiency is characterized by mild-to-moderate bleeding, although in some instances bleeding can be life threatening. Most commonly, delayed bleeding is associated with injury, trauma, or surgery; spontaneous bleeding does not occur. While males and females with complete PAI-1 deficiency are affected equally, females may present more frequently with clinical manifestations or earlier in life than males due to menorrhagia and postpartum hemorrhage. Fewer than ten families with complete PAI-1 deficiency have been reported to date. The incidence of complete PAI-1 deficiency is higher than expected in the genetic isolate of the Old Order Amish population of eastern and southern Indiana due to a pathogenic founder variant. In one family from this Old Order Amish population, seven individuals had cardiac fibrosis ranging from minimal-to-moderate (6 individuals) to severe (1).|GeneReviews|N|
C2750068|Roifman-Chitayat syndrome (ROCHIS) is an autosomal recessive digenic disorder characterized by global developmental delay, variable neurologic features such as seizures, ataxia, and optic atrophy, dysmorphic facial features, distal skeletal anomalies, and combined immunodeficiency manifest as recurrent infections (summary by Sharfe et al., 2018).|OMIM|N|
C2750069|Congenital generalized lipodystrophy type 4 (CGL4) combines the phenotype of classic Berardinelli-Seip lipodystrophy (608594) with muscular dystrophy and cardiac conduction anomalies (Hayashi et al., 2009).
For a general description and a discussion of genetic heterogeneity of congenital generalized lipodystrophy, see CGL1 (608594).|OMIM|N|
C2750074|Rhabdoid tumor predisposition syndrome-2 is an autosomal dominant cancer predisposition syndrome characterized by the onset in infancy, childhood, or young adulthood of various poorly differentiated tumors. Classically, tumors that arise in the central nervous system are referred to as atypical teratoid/rhabdoid tumors, whereas those arising in the kidney or other extracranial sites are referred to as malignant rhabdoid tumors. Tumors may also present as small cell carcinoma of the ovary, hypercalcemic type (SCCOHT), also known as malignant rhabdoid tumor of the ovary (MRTO). All of these tumors are highly aggressive and often fatal (summary by Foulkes et al., 2014).
See also RTPS1 (609322), which is caused by mutation in the SMARCB1 gene (601607) on chromosome 22q11.|OMIM|N|
C2750075|Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type is a rare, primary bone dysplasia characterized by intrauterine growth retardation, pre- and postnatal disproportionate short stature with short, rhizomelic limbs, facial dysmorphism, a short neck and small thorax. Hypotonia, cardiomegaly and global developmental delay have also been associated. Several radiographic findings have been reported, including ribs with cupped ends, platyspondyly, square iliac bones, horizontal and trident acetabula, hypoplastic ischia, and delayed epiphyseal ossification.|ORDO|N|
C2750076|The spectrum of ANO5 muscle disease is a continuum that ranges from asymptomatic hyperCKemia and exercise-induced myalgia to proximal and/or distal muscle weakness. The most typical presentation is limb-girdle muscular dystrophy type 2L (LGMD2L) with late-onset proximal lower-limb weakness in the fourth or fifth decade (range 15-70 years). Less common is Miyoshi-like disease (Miyoshi muscular dystrophy 3) with early-adult-onset calf distal myopathy (around age 20 years). Incidental hyperCKemia may be present even earlier. Initial symptoms are walking difficulties, reduced sports performance, and difficulties in standing on toes as well as nonspecific exercise myalgia and/or burning sensation in the calf muscles. Muscle weakness and atrophy are frequently asymmetric. Cardiac findings can include cardiomyopathy and arrhythmias and/or left ventricular dysfunction. Bulbar or respiratory symptoms have not been reported. Females have milder disease manifestations than males. Disease progression is slow in both the LGMD and distal forms; ambulation is preserved until very late in the disease course. Life span is normal.|GeneReviews|N|
C2750078|Researchers have described several forms of hereditary hypophosphatemic rickets, which are distinguished by their pattern of inheritance and genetic cause. The most common form of the disorder is known as X-linked hypophosphatemic rickets (XLH). It has an X-linked dominant pattern of inheritance. X-linked recessive, autosomal dominant, and autosomal recessive forms of the disorder are much rarer.\n\nAnother rare type of the disorder is known as hereditary hypophosphatemic rickets with hypercalciuria (HHRH). In addition to hypophosphatemia, this condition is characterized by the excretion of high levels of calcium in the urine (hypercalciuria).\n\nOther signs and symptoms of hereditary hypophosphatemic rickets can include premature fusion of the skull bones (craniosynostosis) and dental abnormalities. The disorder may also cause abnormal bone growth where ligaments and tendons attach to joints (enthesopathy). In adults, hypophosphatemia is characterized by a softening of the bones known as osteomalacia.\n\nIn most cases, the signs and symptoms of hereditary hypophosphatemic rickets begin in early childhood. The features of the disorder vary widely, even among affected members of the same family. Mildly affected individuals may have hypophosphatemia without other signs and symptoms. More severely affected children experience slow growth and are shorter than their peers. They develop bone abnormalities that can interfere with movement and cause bone pain. The most noticeable of these abnormalities are bowed legs or knock knees. These abnormalities become apparent with weight-bearing activities such as walking. If untreated, they tend to worsen with time.\n\nHereditary hypophosphatemic rickets is a disorder related to low levels of phosphate in the blood (hypophosphatemia). Phosphate is a mineral that is essential for the normal formation of bones and teeth.|MedlinePlus Genetics|N|
C2750079|Familial exudative vitreoretinopathy is an inherited blinding disorder caused by defects in the development of retinal vasculature. There is extensive variation in disease severity among patients, even between members of the same family. Severely affected individuals often are registered as blind during infancy and can present with a phenotype resembling retinal dysplasia. Conversely, mildly affected individuals frequently have few or no visual problems and may have just a small area of avascularity in their peripheral retina, detectable only by fluorescein angiography (summary by Poulter et al., 2012).
For a discussion of genetic heterogeneity of familial exudative vitreoretinopathy (FEVR), see EVR1 (133780).|OMIM|N|
C2750080|Diamond-Blackfan anemia (DBA) is characterized by a profound normochromic and usually macrocytic anemia with normal leukocytes and platelets, congenital malformations in up to 50%, and growth deficiency in 30% of affected individuals. The hematologic complications occur in 90% of affected individuals during the first year of life. The phenotypic spectrum ranges from a mild form (e.g., mild anemia or no anemia with only subtle erythroid abnormalities, physical malformations without anemia) to a severe form of fetal anemia resulting in nonimmune hydrops fetalis. DBA is associated with an increased risk for acute myelogenous leukemia (AML), myelodysplastic syndrome (MDS), and solid tumors including osteogenic sarcoma.|GeneReviews|N|
C2750081|Diamond-Blackfan anemia (DBA) is characterized by a profound normochromic and usually macrocytic anemia with normal leukocytes and platelets, congenital malformations in up to 50%, and growth deficiency in 30% of affected individuals. The hematologic complications occur in 90% of affected individuals during the first year of life. The phenotypic spectrum ranges from a mild form (e.g., mild anemia or no anemia with only subtle erythroid abnormalities, physical malformations without anemia) to a severe form of fetal anemia resulting in nonimmune hydrops fetalis. DBA is associated with an increased risk for acute myelogenous leukemia (AML), myelodysplastic syndrome (MDS), and solid tumors including osteogenic sarcoma.|GeneReviews|N|
C2750082|Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TPRN gene.|MONDO|N|
C2750088|Cisplatin is a highly effective chemotherapeutic agent, but its use is restricted by the high incidence of irreversible ototoxicity associated with it. This ototoxicity causes serious permanent bilateral hearing loss in 10 to 25% of adults receiving the drug, and in up to 60% of children. The consequences of this ototoxicity are particularly serious in children, because even mild hearing loss can compromise language and cognitive development. Cisplatin ototoxicity frequently leads to dose reduction and premature termination of cisplatin treatment, which may affect overall survival rates (summary by Ross et al., 2009).|OMIM|N|
C2750090|A mild form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, with characteristics of distal legs sensory loss and weakness that can be asymmetric. Tendon reflexes are reduced in the knees and absent in ankles. Progression is slow.|SNOMEDCT_US|N|
C2750091|A dilated cardiomyopathy that has material basis in mutation in the TNNI3 gene on chromosome 19q13.42.|MONDO|N|
C2750118|Increase in the number of type II pneumocytes.|HPO|N|
C2750180|Herpes simplex virus (HSV)-1 is most often associated with infection of the oral mucosa. Primary infection is most commonly asymptomatic, but it may lead to symptoms usually involving the mucosa and skin. Following replication at the infection site, HSV-1 enters the epithelial endings of sensory neurons and travels up the trigeminal cranial nerves to the trigeminal ganglia, where latent infection is established. Reactivation of HSV-1, usually in the form of herpes labialis (cold sores), may occur in 20 to 40% of the population. HSV-1 seroprevalence is high, with over 85% of adults between the ages of 20 and 40 years infected. HSV-1 rarely infects the central nervous system (CNS), resulting in herpes simplex encephalitis (HSE), with an incidence of 2 to 4 per 1,000,000 people per year. In HSE, HSV-1 invades and replicates in neurons and glial cells, where focal necrotizing infections occur, primarily affecting the temporal and subfrontal regions of the brain. Untreated, HSE is fatal in at least 70% of cases, although the mortality and morbidity have been drastically reduced with antiviral therapy. Approximately one-third of all HSE cases are due to primary infections, and 30% of all HSE cases occur in children under the age of 20 years. Among children, HSE peaks between 3 months and 3 years of age, coinciding with the time of primary infection. In a subset of children, HSE results from a series of monogenic primary immunodeficiencies that impair UNC93B1- and TLR3 (603029)-dependent production of IFNA (147660)/IFNB (147640) and IFNG (147570) in the CNS (summary by Sancho-Shimizu et al., 2007).
Genetic Heterogeneity of Susceptibility to Acute Infection-Induced Encephalopathy, including Herpes Simplex Encephalitis (HSE)
For other forms of susceptibility to acute infection-induced encephalopathy, see herpes-specific IIAE2 (613002), caused by mutation in the TLR3 gene (603029) on chromosome 4q35; IIAE3 (608033), caused by mutation in the RANBP2 gene (601181) on chromosome 2q12; IIAE4 (614212), caused by mutation in the CPT2 gene (600650) on chromosome 1p32; herpes-specific IIAE5 (614849), caused by mutation in the TRAF3 gene (601896) on chromosome 14q32; herpes-specific IIAE6 (614850), caused by mutation in the TICAM1 gene (607601) on chromosome 19p13; herpes-specific IIAE7 (616532), caused by mutation in the IRF3 gene (603734) on chromosome 19q13; herpes-specific IIAE8 (617900), caused by mutation in the TBK1 gene (604834) on chromosome 12q14; IIAE9 (618426), caused by mutation in the NUP214 gene (114350) on chromosome 9q34; herpes-specific IIAE10 (619396), caused by mutation in the SNORA31 (619378) on chromosome 13q14; IIAE11 (619441), caused by mutation in the DBR1 gene (607024) on chromosome 3q22; and IIAE12 (620461), caused by mutation in the RNH1 gene (173320) on chromosome 11p15.|OMIM|N|
C2750234|Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome (CAMRQ) is a genetically heterogeneous disorder characterized by congenital cerebellar ataxia and intellectual disability (summary by Gulsuner et al., 2011).
For a discussion of genetic heterogeneity of CAMRQ, see CAMRQ1 (224050).|OMIM|N|
C2750246|Pitt-Hopkins-like syndrome-1 (PTHSL1) is an autosomal recessive neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, severe speech impairment or regression, and behavioral abnormalities. Most patients have onset of seizures within the first years of life. Some patients may have cortical dysplasia on brain imaging (summary by Smogavec et al., 2016).|OMIM|N|
C2750285|People with Hutchinson-Gilford progeria syndrome experience severe hardening of the arteries (arteriosclerosis) beginning in childhood. This condition greatly increases the chances of having a heart attack or stroke at a young age.  These serious complications can worsen over time and are life-threatening for affected individuals.\n\nHutchinson-Gilford progeria syndrome is a genetic condition characterized by the dramatic, rapid appearance of aging beginning in childhood. Affected children typically look normal at birth and in early infancy, but then grow more slowly than other children and do not gain weight at the expected rate (failure to thrive). They develop a characteristic facial appearance including prominent eyes, a thin nose with a beaked tip, thin lips, a small chin, and protruding ears.  Hutchinson-Gilford progeria syndrome also causes hair loss (alopecia), aged-looking skin, joint abnormalities, and a loss of fat under the skin (subcutaneous fat). This condition does not affect intellectual development or the development of motor skills such as sitting, standing, and walking.|MedlinePlus Genetics|N|
C2750325|A contiguous gene syndrome comprising otodental syndrome (globodontia and sensorineural high-frequency hearing deficit) associated with eye abnormalities typically including iris and chorioretinal coloboma and sometimes microcornea, microphthalmos, lenticular opacity, lens coloboma and iris pigment epithelial atrophy.|SNOMEDCT_US|N|
C2750355|Omodysplasia-2 (OMOD2) is a rare autosomal dominant skeletal dysplasia characterized by shortened humeri, dislocated radial heads, shortened first metacarpals, craniofacial dysmorphism, and variable genitourinary anomalies (Saal et al., 2015).
For a discussion of genetic heterogeneity of OMOD, see 258315.|OMIM|N|
C2750433|FREM1 autosomal recessive disorders include: Manitoba oculotrichoanal (MOTA) syndrome, bifid nose with or without anorectal and renal anomalies (BNAR syndrome), and isolated congenital anomalies of kidney and urinary tract (CAKUT). MOTA syndrome is characterized by an aberrant hairline (unilateral or bilateral wedge-shaped extension of the anterior hairline from the temple region to the ipsilateral eye) and anomalies of the eyes (widely spaced eyes, anophthalmia/microphthalmia and/or cryptophthalmos, colobomas of the upper eyelid, and corneopalpebral synechiae), nose (bifid or broad nasal tip), abdominal wall (omphalocele or umbilical hernia), and anus (stenosis and/or anterior displacement of the anal opening). The manifestations and degree of severity vary even among affected members of the same family. Growth and psychomotor development are normal. BNAR syndrome is characterized by a bifid or wide nasal tip, anorectal anomalies, and renal malformations (e.g., renal agenesis, renal dysplasia). Typically the eye manifestations of MOTA syndrome are absent. FREM1-CAKUT was identified in one individual with bilateral vesicoureteral reflux (VUR) and a second individual with VUR and renal hypodysplasia.|GeneReviews|N|
C2750440|The accumulation of excess triglyceride in the liver, a condition known as hepatic steatosis (or fatty liver disease, FLD), is associated with adverse metabolic consequences including insulin resistance and dyslipidemia. Factors promoting deposition of fat in the liver include obesity, diabetes, insulin resistance, and alcohol ingestion. Nonalcoholic fatty liver disease (NAFLD) is the most common form of liver disease in Western countries. In a subset of individuals hepatic steatosis promotes an inflammatory response in the liver, referred to as steatohepatitis, which can progress to cirrhosis and liver cancer (summary by Romeo et al., 2008).
Cohen et al. (2011) reviewed nonalcoholic fatty liver disease.
Genetic Heterogeneity of Fatty Liver Disease
Another form of fatty liver disease (FLD2; 613387) has been associated with variation in the APOC3 gene (107720).|OMIM|N|
C2750442|Hypermanganesemia with dystonia 1 (HMNDYT1) is characterized by the following: A movement disorder resulting from manganese accumulation in the basal ganglia. Whole-blood manganese concentrations that often exceed 2000 nmol/L (normal: <320 nmol/L). Polycythemia. Hepatomegaly with variable hepatic fibrosis/cirrhosis. Neurologic findings can manifest in childhood (ages 2-15 years) as four-limb dystonia, leading to a characteristic high-stepping gait ("cock-walk gait"), dysarthria, fine tremor, and bradykinesia or on occasion spastic paraplegia; or in adulthood as parkinsonism (shuffling gait, rigidity, bradykinesia, hypomimia, and monotone speech) unresponsive to L-dopa treatment.|GeneReviews|N|
C2750448|Fuchs endothelial corneal dystrophy (FECD) is the most common genetic disorder of the corneal endothelium. Late-onset FECD is marked by thickening of Descemets membrane and excrescences, called guttae, that typically appear in the fourth or fifth decade. Disease progression results in decreased visual acuity as a result of increasing corneal edema, and end-stage disease is marked by painful epithelial bullae (summary by Riazuddin et al., 2013). Patients with keratoconus have been observed (Lechner et al., 2013).
For a discussion of genetic heterogeneity of Fuchs endothelial corneal dystrophy, see FECD1 (136800).|OMIM|N|
C2750449|Fuchs endothelial corneal dystrophy (FECD) is the most common genetic disorder of the corneal endothelium. Late-onset FECD is marked by thickening of Descemets membrane and excrescences, called guttae, that typically appear in the fourth or fifth decade. Disease progression results in decreased visual acuity as a result of increasing corneal edema, and end-stage disease is marked by painful epithelial bullae (summary by Riazuddin et al., 2013).
For a discussion of genetic heterogeneity of Fuchs corneal dystrophy, see FECD1 (136800).|OMIM|N|
C2750450|Fuchs endothelial corneal dystrophy (FECD) is the most common genetic disorder of the corneal endothelium. Late-onset FECD is marked by thickening of Descemets membrane and excrescences, called guttae, that typically appear in the fourth or fifth decade. Disease progression results in decreased visual acuity as a result of increasing corneal edema, and end-stage disease is marked by painful epithelial bullae (summary by Riazuddin et al., 2013).
For a discussion of genetic heterogeneity of Fuchs endothelial corneal dystrophy, see FECD1 (136800).|OMIM|N|
C2750451|Late-onset Fuchs endothelial corneal dystrophy (FECD) is a degenerative disorder affecting roughly 4% of the population older than 40 years. It is distinguished from other corneal disorders by the progressive formation of guttae, which are microscopic refractile excrescences of the Descemet membrane, a collagen-rich basal lamina secreted by the corneal endothelium. From onset, it usually takes 2 decades for FECD to impair endothelial cell function seriously, leading to stromal edema and impaired vision (Sundin et al., 2006).
For a discussion of genetic heterogeneity of Fuchs endothelial corneal dystrophy, see FECD1 (136800).|OMIM|N|
C2750452|Waardenburg syndrome type 4 is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the eye, deafness, and Hirschsprung disease (review by Read and Newton, 1997). WS type 4C is caused by mutation in the SOX10 gene (602229). WS type 4 is genetically heterogeneous (see WS4A; 277580).
For a description of other clinical variants of Waardenburg syndrome, see WS1 (193500), WS2 (193510), and WS3 (148820).|OMIM|N|
C2750457|Waardenburg syndrome type 4 is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the eye, deafness, and Hirschsprung disease (review by Read and Newton, 1997). WS type 4B is caused by mutation in the EDN3 gene (131242). WS type 4 is genetically heterogeneous (see WS4A; 277580).
For a description of other clinical variants of Waardenburg syndrome, see WS1 (193500), WS2 (193510), and WS3 (148820).|OMIM|N|
C2750459|Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the VCL gene.|MONDO|N|
C2750466|Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the MYH6 gene.|MONDO|N|
C2750467|An autosomal dominant subtype of familial hypertrophic cardiomyopathy caused by mutation(s) in the MYH6 gene, encoding myosin-6.|NCI|N|
C2750471|Lynch syndrome is characterized by an increased risk for colorectal cancer (CRC) and cancers of the endometrium, ovary, stomach, small bowel, urinary tract, biliary tract, brain (usually glioblastoma), skin (sebaceous adenomas, sebaceous carcinomas, and keratoacanthomas), pancreas, and prostate. Cancer risks and age of onset vary depending on the associated gene. Several other cancer types have been reported to occur in individuals with Lynch syndrome (e.g., breast, sarcomas, adrenocortical carcinoma). However, the data are not sufficient to demonstrate that the risk of developing these cancers is increased in individuals with Lynch syndrome.|GeneReviews|N|
C2750472|Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TNNC1 gene.|MONDO|N|
C2750473|Any thyrotoxic periodic paralysis in which the cause of the disease is a mutation in the KCNJ18 gene.|MONDO|N|
C2750475|Focal segmental glomerulosclerosis (FSGS) is a pathologic entity associated clinically with proteinuria, the nephrotic syndrome (NPHS), and progressive loss of renal function. It is a common cause of end-stage renal disease (ESRD) (Meyrier, 2005).
Dominant intermediate Charcot-Marie-Tooth disease E and focal segmental glomerulonephritis (CMTDIE; 614455) is also caused by heterozygous mutation in the INF2 gene.
For a general phenotypic description and a discussion of genetic heterogeneity of focal segmental glomerulosclerosis and nephrotic syndrome, see FSGS1 (603278).|OMIM|N|
C2750481|Factor XIII deficiency is an autosomal recessive hematologic disorder characterized by increased bleeding and poor wound healing. Most cases of congenital factor XIII deficiency result from mutation in the A subunit (Kangsadalampai et al., 1999).
Ichinose et al. (1996, 2000) proposed a classification of factor XIII deficiency: XIIIA deficiency (formerly 'type II' F13 deficiency) and XIIIB deficiency (formerly 'type I' F13 deficiency), as well as a possible combined deficiency of the 2.|OMIM|N|
C2750509|Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome (CAMRQ) is a genetically heterogeneous disorder characterized by congenital cerebellar ataxia and mental retardation (summary by Gulsuner et al., 2011).
For a discussion of genetic heterogeneity of CAMRQ, see CAMRQ1 (224050).|OMIM|N|
C2750514|Factor XIII deficiency is an autosomal recessive hematologic disorder characterized by increased bleeding and poor wound healing. Most cases of congenital factor XIII deficiency result from mutation in the A subunit (Kangsadalampai et al., 1999).
Ichinose et al. (1996, 2000) proposed a classification of factor XIII deficiency: XIIIA deficiency (formerly 'type II' F13 deficiency) and XIIIB deficiency (formerly 'type I' F13 deficiency), as well as a possible combined deficiency of the 2.|OMIM|N|
C2750548|Nasopharyngeal carcinoma is a multifactorial malignancy associated with both genetic and environmental factors. The cancer arises from the epithelium of the nasopharynx (summary by Tse et al., 2009).
For a general phenotypic description and a discussion of genetic heterogeneity of susceptibility to nasopharyngeal carcinoma, see NPCA1 (607107).|OMIM|N|
C2750617|Longevity, or extended life span, is a complex trait, determined by multiple genes as well as by environmental factors. Longevity has been associated with a locus on chromosome 4 (LGV1). Longevity has also been associated with a locus on chromosome 6q21 (LGV2; 606460).
See also 502000 for a discussion of aging related to changes in mitochondrial DNA.|OMIM|N|
C2750635|A limitation in the passive range of motion of a joint of the upper limb resulting from loss of elasticity in the periarticular tissues owing to structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules or skin.|HPO|N|
C2750720|The first signs and symptoms of cone-rod dystrophy, which often occur in childhood, are usually decreased sharpness of vision (visual acuity) and increased sensitivity to light (photophobia). These features are typically followed by impaired color vision (dyschromatopsia), blind spots (scotomas) in the center of the visual field, and partial side (peripheral) vision loss. Over time, affected individuals develop night blindness and a worsening of their peripheral vision, which can limit independent mobility. Decreasing visual acuity makes reading increasingly difficult and most affected individuals are legally blind by mid-adulthood. As the condition progresses, individuals may develop involuntary eye movements (nystagmus).\n\nThere are more than 30 types of cone-rod dystrophy, which are distinguished by their genetic cause and their pattern of inheritance: autosomal recessive, autosomal dominant, and X-linked. Additionally, cone-rod dystrophy can occur alone without any other signs and symptoms or it can occur as part of a syndrome that affects multiple parts of the body.\n\nCone-rod dystrophy is a group of related eye disorders that causes vision loss, which becomes more severe over time. These disorders affect the retina, which is the layer of light-sensitive tissue at the back of the eye. In people with cone-rod dystrophy, vision loss occurs as the light-sensing cells of the retina gradually deteriorate.|MedlinePlus Genetics|N|
C2750732|Noonan syndrome (NS) is characterized by characteristic facies, short stature, congenital heart defect, and developmental delay of variable degree. Other findings can include broad or webbed neck, unusual chest shape with superior pectus carinatum and inferior pectus excavatum, cryptorchidism, varied coagulation defects, lymphatic dysplasias, and ocular abnormalities. Although birth length is usually normal, final adult height approaches the lower limit of normal. Congenital heart disease occurs in 50%-80% of individuals. Pulmonary valve stenosis, often with dysplasia, is the most common heart defect and is found in 20%-50% of individuals. Hypertrophic cardiomyopathy, found in 20%-30% of individuals, may be present at birth or develop in infancy or childhood. Other structural defects include atrial and ventricular septal defects, branch pulmonary artery stenosis, and tetralogy of Fallot. Up to one fourth of affected individuals have mild intellectual disability, and language impairments in general are more common in NS than in the general population.|GeneReviews|N|
C2750733|In any form of leprosy, episodes called reactions can occur, and can lead to further nerve damage. These episodes can include reversal reactions, which involve pain and swelling of the skin lesions and the nerves in the hands and feet. People with the more severe forms of leprosy can develop a type of reaction called erythema nodosum leprosum (ENL). These episodes involve fever and painful skin nodules. In addition, painful, swollen nerves can occur. ENL can also lead to inflammation of the joints, eyes, and the testicles in men.\n\nLeprosy has long been stigmatized because of its infectious nature and the disfigurement it can cause. This stigma can cause social and emotional problems for affected individuals. However, modern treatments can prevent leprosy from getting worse and spreading to other people. While the infection is curable, nerve and tissue damage that occurred before treatment is generally permanent.\n\nPaucibacillary leprosy typically involves a small number of surface lesions on the skin. There is generally loss of sensation in these areas, but the other signs and symptoms that occur in multibacillary leprosy are less likely to develop in this form of the disorder.\n\nMultibacillary leprosy usually involves a large number of cutaneous lesions, including both surface damage and lumps under the skin (nodules). The moist tissues that line body openings such as the eyelids and the inside of the nose and mouth (mucous membranes) can also be affected, which can lead to vision loss, destruction of nasal tissue, or impaired speech. Some affected individuals have damage to internal organs and tissues. The nerve damage that occurs in multibacillary leprosy often results in a lack of sensation in the hands and feet. Repeated injuries that go unnoticed and untreated because of this lack of sensation can lead to reabsorption of affected fingers or toes by the body, resulting in the shortening or loss of these digits.\n\nLeprosy affects the skin and the peripheral nerves, which connect the brain and spinal cord to muscles and to sensory cells that detect sensations such as touch, pain, and heat. Most affected individuals have areas of skin damage (cutaneous lesions) and problems with nerve function (peripheral neuropathy); however, the severity and extent of the problems vary widely. Leprosy occurs on a spectrum, in which the most severe form is called multibacillary or lepromatous, and the least severe form is called paucibacillary or tuberculoid. Patterns of signs and symptoms intermediate between these forms are sometimes called borderline forms.\n\nLeprosy, also called Hansen disease, is a disorder known since ancient times. It is caused by bacteria called Mycobacterium leprae and is contagious, which means that it can be passed from person to person. It is usually contracted by breathing airborne droplets from affected individuals' coughs and sneezes, or by coming into contact with their nasal fluids. However, it is not highly transmissible, and approximately 95 percent of individuals who are exposed to Mycobacterium leprae never develop leprosy. The infection can be contracted at any age, and signs and symptoms can take anywhere from several months to 20 years to appear.|MedlinePlus Genetics|N|
C2750735|For a description and a discussion of genetic heterogeneity of fasting plasma glucose as a quantitative trait, see FGQTL1 (612108).
FGQTL2 represents a locus associated with variation in fasting plasma glucose on chromosome 7p15-p13 in the vicinity of the glucokinase gene (GCK; 138079).
Birth Weight as a Quantitative Trait
Birth weight is a complex multifactorial trait. The extremes of birth weight are associated with high risks of perinatal morbidity and mortality. In addition, there are well-documented observational associations between lower birth weight and later-life chronic disease, including type 2 diabetes, cardiovascular disease, and higher blood pressure (e.g., Barker et al., 1993). Birth weight may be influenced directly by fetal genotype and indirectly by maternal genotype operating through the intrauterine environment. The importance of genetic factors acting independently of the intrauterine environment is illustrated by correlations between paternal height or weight and offspring birth weight, and genetic variants that are associated both with low birth weight and increased risk of type 2 diabetes may account for some of the observed correlation between these phenotypes (Hattersley and Tooke, 1999) (summary by Freathy et al., 2010).
The BWQTL1 locus represents association of birth weight as a quantitative trait with single-nucleotide polymorphisms (SNPs) on chromosome 7p15-p13 in the vicinity of the glucokinase gene (GCK; 138079). The BWQTL2 locus (613459) represents association of birth weight with SNPs on chromosome 3q25. The BWQTL3 locus (613460) represents association of birth weight with SNPs on chromosome 3q21 in the vicinity of the ADCY5 gene (600293). The BWQTL4 locus (615192) represents association of birth weight with SNPs on chromosome 6p22.3 in the vicinity of the CDKAL1 gene (611259).
For discussion of a possible association between birth weight and DLK1 levels, see 176290.|OMIM|N|
C2750737|Congenital tufting enteropathy (CTE) is a rare inherited intractable diarrhea of infancy characterized by villous atrophy and absence of inflammation, with intestinal epithelial cell dysplasia manifesting as focal epithelial tufts in the duodenum and jejunum. CTE presents in the first few months of life with chronic watery diarrhea and failure to thrive, and most affected individuals require parenteral nutrition for normal growth and development (summary by Sivagnanam et al., 2008).
Semiquantitative assessment of the epithelial surface in CTE patients revealed that 80 to 90% contained tufts, compared to only 16% in patients with celiac disease and less than 10% in normal jejunum (Reifen et al., 1994).
For a discussion of genetic heterogeneity of diarrhea, see DIAR1 (214700).|OMIM|N|
C2750747|The vision problems associated with this condition are congenital, which means they are present from birth. They tend to remain stable (stationary) over time.\n\nAutosomal recessive congenital stationary night blindness is a disorder of the retina, which is the specialized tissue at the back of the eye that detects light and color. People with this condition typically have difficulty seeing and distinguishing objects in low light (night blindness). For example, they may not be able to identify road signs at night or see stars in the night sky. They also often have other vision problems, including loss of sharpness (reduced acuity), nearsightedness (myopia), involuntary movements of the eyes (nystagmus), and eyes that do not look in the same direction (strabismus).|MedlinePlus Genetics|N|
C2750771|Any amelogenesis imperfecta in which the cause of the disease is a mutation in the WDR72 gene.|MONDO|N|
C2750784|A very rare, complex form of hereditary spastic paraplegia characterised by a late-onset, slowly progressive spastic paraplegia associated with mild ataxia and dysarthria, upper extremity involvement (i.e. loss of finger dexterity, dysmetria), and mild cognitive impairment, without the presence of nystagmus. A hypomyelinating leucodystrophy and thin corpus callosum is observed in all cases and psychomotor development is normal or near normal. Caused by mutations in the GJC2 gene (1q41-q42) encoding the gap junction gamma-2 protein.|SNOMEDCT_US|N|
C2750785|LMNA-related congenital muscular dystrophy (L-CMD) is a condition that primarily affects muscles used for movement (skeletal muscles). It is part of a group of genetic conditions called congenital muscular dystrophies, which cause weak muscle tone (hypotonia) and muscle wasting (atrophy) beginning very early in life.\n\nIn people with L-CMD, muscle weakness becomes apparent in infancy or early childhood and can worsen quickly. The most severely affected infants develop few motor skills, and they are never able to hold up their heads, roll over, or sit. Less severely affected children may learn to sit, stand, and walk before muscle weakness becomes apparent. First the neck muscles weaken, causing the head to fall forward (dropped-head syndrome). As other skeletal muscles become weaker, these children may ultimately lose the ability to sit, stand, and walk unassisted.\n\nOther features of L-CMD often include spinal rigidity and abnormal curvature of the spine (scoliosis and lordosis); joint deformities (contractures) that restrict movement, particularly in the hips and legs; and an inward-turning foot. People with L-CMD also have an increased risk of heart rhythm abnormalities (arrhythmias).\n\nOver time, muscle weakness causes most infants and children with L-CMD to have trouble eating and breathing. The breathing problems result from restrictive respiratory insufficiency, which occurs when muscles in the chest are weakened and the ribcage becomes increasingly rigid. This problem can be life-threatening, and many affected children require support with a machine to help them breathe (mechanical ventilation).|MedlinePlus Genetics|N|
C2750786|A rare genetic congenital muscular dystrophy due to extracellular matrix protein anomaly. The disease has characteristics of early motor development delay and muscle weakness with mild elevation of serum creatine kinase that may be followed by progressive disease course with predominantly proximal muscle weakness and atrophy, motor development regress, scoliosis and respiratory insufficiency. There is evidence this disease is caused by compound heterozygous mutation in the ITGA7 gene on chromosome 12q13.|SNOMEDCT_US|N|
C2750787|Weill-Marchesani syndrome (WMS) is a connective tissue disorder characterized by abnormalities of the lens of the eye, short stature, brachydactyly, joint stiffness, and cardiovascular defects. The ocular problems, typically recognized in childhood, include microspherophakia (small spherical lens), myopia secondary to the abnormal shape of the lens, ectopia lentis (abnormal position of the lens), and glaucoma, which can lead to blindness. Height of adult males is 142-169 cm; height of adult females is 130-157 cm. Autosomal recessive WMS cannot be distinguished from autosomal dominant WMS by clinical findings alone.|GeneReviews|N|
C2750789|Any retinitis pigmentosa in which the cause of the disease is a mutation in the BEST1 gene.|MONDO|N|
C2750790|Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). The signs and symptoms of this condition are caused by abnormal cilia and flagella. Cilia are microscopic, finger-like projections that stick out from the surface of cells. They are found in the linings of the airway, the reproductive system, and other organs and tissues. Flagella are tail-like structures, similar to cilia, that propel sperm cells forward.\n\nIn the respiratory tract, cilia move back and forth in a coordinated way to move mucus towards the throat. This movement of mucus helps to eliminate fluid, bacteria, and particles from the lungs. Most babies with primary ciliary dyskinesia experience breathing problems at birth, which suggests that cilia play an important role in clearing fetal fluid from the lungs. Beginning in early childhood, affected individuals develop frequent respiratory tract infections. Without properly functioning cilia in the airway, bacteria remain in the respiratory tract and cause infection. People with primary ciliary dyskinesia also have year-round nasal congestion and a chronic cough. Chronic respiratory tract infections can result in a condition called bronchiectasis, which damages the passages, called bronchi, leading from the windpipe to the lungs and can cause life-threatening breathing problems.\n\nSome individuals with primary ciliary dyskinesia have abnormally placed organs within their chest and abdomen. These abnormalities arise early in embryonic development when the differences between the left and right sides of the body are established. About 50 percent of people with primary ciliary dyskinesia have a mirror-image reversal of their internal organs (situs inversus totalis). For example, in these individuals the heart is on the right side of the body instead of on the left. Situs inversus totalis does not cause any apparent health problems. When someone with primary ciliary dyskinesia has situs inversus totalis, they are often said to have Kartagener syndrome.\n\nApproximately 12 percent of people with primary ciliary dyskinesia have a condition known as heterotaxy syndrome or situs ambiguus, which is characterized by abnormalities of the heart, liver, intestines, or spleen. These organs may be structurally abnormal or improperly positioned. In addition, affected individuals may lack a spleen (asplenia) or have multiple spleens (polysplenia). Heterotaxy syndrome results from problems establishing the left and right sides of the body during embryonic development. The severity of heterotaxy varies widely among affected individuals.\n\nPrimary ciliary dyskinesia can also lead to infertility. Vigorous movements of the flagella are necessary to propel the sperm cells forward to the female egg cell. Because their sperm do not move properly, males with primary ciliary dyskinesia are usually unable to father children. Infertility occurs in some affected females and is likely due to abnormal cilia in the fallopian tubes.\n\nAnother feature of primary ciliary dyskinesia is recurrent ear infections (otitis media), especially in young children. Otitis media can lead to permanent hearing loss if untreated. The ear infections are likely related to abnormal cilia within the inner ear.\n\nRarely, individuals with primary ciliary dyskinesia have an accumulation of fluid in the brain (hydrocephalus), likely due to abnormal cilia in the brain.|MedlinePlus Genetics|N|
C2750791|Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the TRAPPC9 gene.|MONDO|N|
C2750798|A rare genetic syndrome with characteristics of severe developmental delay, neonatal hypotonia, seizures, optic nerve hypoplasia and distinct central nervous system malformations including extensive bilateral polymicrogyria, dysplastic or absent corpus callosum and malformed brainstem with loss of demarcation of the pontomedullary junction. There is evidence this disease is caused by homozygous mutation in the TUBA8 gene on chromosome 22q11.|SNOMEDCT_US|N|
C2750804|LTBP4-related cutis laxa is characterized by cutis laxa, early childhood-onset pulmonary emphysema, peripheral pulmonary artery stenosis, and other evidence of a generalized connective tissue disorder such as inguinal hernias and hollow visceral diverticula (e.g., intestine, bladder). Other manifestations can include pyloric stenosis, diaphragmatic hernia, rectal prolapse, gastrointestinal elongation/tortuosity, cardiovascular abnormality, pulmonary hypertension, hypotonia and frequent pulmonary infections. Bladder diverticula and hydronephrosis are common. Early demise has been associated with pulmonary emphysema.|GeneReviews|N|
C2750805|A rare partial autosomal trisomy/tetrasomy characterized by global developmental delay, intellectual disability, autistic behavior, muscular hypotonia, macrocephaly and facial dysmorphism (frontal bossing, short palpebral fissures, low set, dysplastic ears, short or shallow philtrum, high arched or narrow palate, micrognathia). Other associated clinical features include sleep disturbances, seizures, aplasia/hypoplasia of the corpus callosum, skeletal abnormalities (large hands and feet, long fingers and toes, talipes).|ORDO|N|
C2750815|Hypotrichosis-4 (HYPT4), also known as Marie Unna hereditary hypotrichosis-1 (MUHH1), is an autosomal dominant form of hair loss characterized by the absence or scarcity of scalp hair, eyebrows, and eyelashes at birth. Coarse, wiry hair begins to grow during childhood. Around puberty, progressive hair loss occurs in the affected patients. Although the disorder has the potential to affect all hair shafts, progressive and patterned alopecia of the scalp is the main manifestation of the disorder (summary by Mansur et al., 2010).
For a discussion of genetic heterogeneity of nonsyndromic hypotrichosis, see 605389.
Genetic Heterogeneity of Marie Unna Hereditary Hypotrichosis
See also MUHH2 (HYPT5; 612841), caused by heterozygous mutation in the EPS8L3 gene (614989) on chromosome 1p13.|OMIM|N|
C2750824|Dystransthyretinemic hyperthyroxinemia (DTTRH) is characterized by an increased affinity for thyroxine (T4) by transthyretin in clinically euthyroid individuals (summary by Moses et al., 1990).|OMIM|N|
C2750850|Gliomas are central nervous system neoplasms derived from glial cells and comprise astrocytomas, glioblastoma multiforme, oligodendrogliomas, ependymomas, and subependymomas. Glial cells can show various degrees of differentiation even within the same tumor (summary by Kyritsis et al., 2010).
Ependymomas are rare glial tumors of the brain and spinal cord (Yokota et al., 2003).
Subependymomas are unusual tumors believed to arise from the bipotential subependymal cell, which normally differentiates into either ependymal cells or astrocytes. They were characterized as a distinct entity by Scheinker (1945). They tend to be slow-growing, noninvasive, and located in the ventricular system, septum pellucidum, cerebral aqueduct, or proximal spinal cord (summary by Ryken et al., 1994).
Gliomas are known to occur in association with several other well-defined hereditary tumor syndromes such as mismatch repair cancer syndrome (see 276300), melanoma-astrocytoma syndrome (155755), neurofibromatosis-1 (NF1; 162200) and neurofibromatosis-2 (see SWNV, 101000), and tuberous sclerosis (TSC1; 191100). Familial clustering of gliomas may occur in the absence of these tumor syndromes, however.
Genetic Heterogeneity of Susceptibility to Glioma
Other glioma susceptibilities include GLM2 (613028), caused by variation in the PTEN gene (601728) on chromosome 10q23; GLM3 (613029), caused by variation in the BRCA2 gene (600185) on chromosome 13q13; GLM4 (607248), mapped to chromosome 15q23-q26.3; GLM5 (613030), mapped to chromosome 9p21; GLM6 (613031), mapped to chromosome 20q13; GLM7 (613032), mapped to chromosome 8q24; GLM8 (613033), mapped to chromosome 5p15; and GLM9, caused by variation in the POT1 gene (606478) on chromosome 7q31.
Somatic mutation, disruption, or copy number variation of the following genes or loci may also contribute to the formation of glioma: ERBB (EGFR; 131550), ERBB2 (164870), LGI1 (604619), GAS41 (602116), GLI (165220), DMBT1 (601969), IDH1 (147700), IDH2 (147650), BRAF (164757), PARK2 (602544), TP53 (191170), RB1 (614041), PIK3CA (171834), 10p15, 19q, and 17p13.3.|OMIM|N|
C2750887|For a general phenotypic description and a discussion of genetic heterogeneity of idiopathic generalized epilepsy, see 600669. Juvenile myoclonic epilepsy is a subtype of idiopathic generalized epilepsy; see 254770 for a general phenotypic description and a discussion of genetic heterogeneity of JME.|OMIM|N|
C2750892|Juvenile absence epilepsy is a subtype of idiopathic generalized epilepsy (IGE; see 600669). Manifestations occur around puberty, in contrast to childhood absence epilepsy (CAE; 600131), which begins at age 6 to 7 years. Absence seizures, generalized tonic-clonic seizures (GTCS), GTCS on awakening, and myoclonic seizures are the main features of JAE. (Commission on Classification and Terminology of the International League Against Epilepsy, 1989).
Genetic Heterogeneity of Juvenile Absence Epilepsy
See also susceptibility to juvenile absence epilepsy-2 (EJA2; see 607628), conferred by variation in the CLCN2 gene (600570) on chromosome 3q26.|OMIM|N|
C2750893|Both juvenile myoclonic epilepsy and juvenile absence epilepsy are subtypes of idiopathic generalized epilepsy (EIG).
For a general phenotypic description and a discussion of genetic heterogeneity of these disorders, see EIG1 (600669), EJM1 (254770), and EJA1 (607631).|OMIM|N|
C2750913|A reduction in the number of nerve cells in the basal ganglia.|HPO|N|
C2750915|Focal proliferation of glial cells in the basal ganglia.|HPO|N|
C2750995|An autosomal dominant subtype of dilated cardiomyopathy caused by mutation(s) in the RBM20 gene, encoding RNA-binding protein 20.|NCI|N|
C2751012|Parkinson's disease is a progressive disorder of the nervous system. The disorder affects several regions of the brain, especially an area called the substantia nigra that controls balance and movement.\n\nOften the first symptom of Parkinson's disease is trembling or shaking (tremor) of a limb, especially when the body is at rest. Typically, the tremor begins on one side of the body, usually in one hand. Tremors can also affect the arms, legs, feet, and face. Other characteristic symptoms of Parkinson's disease include rigidity or stiffness of the limbs and torso, slow movement (bradykinesia) or an inability to move (akinesia), and impaired balance and coordination (postural instability). These symptoms worsen slowly over time.\n\nParkinson's disease can also affect emotions and thinking ability (cognition). Some affected individuals develop psychiatric conditions such as depression and visual hallucinations. People with Parkinson's disease also have an increased risk of developing dementia, which is a decline in intellectual functions including judgment and memory.\n\nGenerally, Parkinson's disease that begins after age 50 is called late-onset disease. The condition is described as early-onset disease if signs and symptoms begin before age 50. Early-onset cases that begin before age 20 are sometimes referred to as juvenile-onset Parkinson's disease.|MedlinePlus Genetics|N|
C2751052|MDDGB4 is a rare autosomal recessive congenital muscular dystrophy that is part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1; 128239), collectively known as  'dystroglycanopathies.' In contrast to most dystroglycanopathies, impaired intellectual development is not a feature of MDDGB4 (Godfrey et al., 2007).
For a discussion of genetic heterogeneity of congenital muscular dystrophy-dystroglycanopathy type B, see MDDGB1 (613155).|OMIM|N|
C2751053|An autosomal recessive condition caused by mutation(s) in the IL10RA gene, encoding interleukin-10 receptor subunit alpha. It is characterized by early-onset chronic relapsing intestinal inflammation.|NCI|N|
C2751067|Infantile dystonia-parkinsonism (IPD) is an extremely rare inherited neurological syndrome that presents in early infancy with hypokinetic parkinsonism and dystonia and that can be fatal.|NCBI curation|N|
C2751083|Brugada syndrome is characterized by cardiac conduction abnormalities (ST segment abnormalities in leads V1-V3 on EKG and a high risk for ventricular arrhythmias) that can result in sudden death. Brugada syndrome presents primarily during adulthood, although age at diagnosis may range from infancy to late adulthood. The mean age of sudden death is approximately 40 years. Clinical presentations may also include sudden infant death syndrome (SIDS; death of a child during the first year of life without an identifiable cause) and sudden unexpected nocturnal death syndrome (SUNDS), a typical presentation in individuals from Southeast Asia. Other conduction defects can include first-degree AV block, intraventricular conduction delay, right bundle branch block, and sick sinus syndrome.|GeneReviews|N|
C2751084|Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the NEXN gene.|MONDO|N|
C2751088|Brugada syndrome is characterized by cardiac conduction abnormalities (ST segment abnormalities in leads V1-V3 on EKG and a high risk for ventricular arrhythmias) that can result in sudden death. Brugada syndrome presents primarily during adulthood, although age at diagnosis may range from infancy to late adulthood. The mean age of sudden death is approximately 40 years. Clinical presentations may also include sudden infant death syndrome (SIDS; death of a child during the first year of life without an identifiable cause) and sudden unexpected nocturnal death syndrome (SUNDS), a typical presentation in individuals from Southeast Asia. Other conduction defects can include first-degree AV block, intraventricular conduction delay, right bundle branch block, and sick sinus syndrome.|GeneReviews|N|
C2751089|Brugada syndrome is characterized by cardiac conduction abnormalities (ST segment abnormalities in leads V1-V3 on EKG and a high risk for ventricular arrhythmias) that can result in sudden death. Brugada syndrome presents primarily during adulthood, although age at diagnosis may range from infancy to late adulthood. The mean age of sudden death is approximately 40 years. Clinical presentations may also include sudden infant death syndrome (SIDS; death of a child during the first year of life without an identifiable cause) and sudden unexpected nocturnal death syndrome (SUNDS), a typical presentation in individuals from Southeast Asia. Other conduction defects can include first-degree AV block, intraventricular conduction delay, right bundle branch block, and sick sinus syndrome.|GeneReviews|N|
C2751090|Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency is a rare, genetic, coagulation disorder characterized by a tendency to develop thrombosis, resulting from decreased histidine-rich glycoprotein (HRG) plasma levels. Manifestations are variable depending on location of thrombosis, but may include headaches, diplopia, progressive pain, limb swelling, itching or ulceration, and brownish skin discoloration, among others.|ORDO|N|
C2751092|Hereditary sensory and autonomic neuropathy type II (HSAN2) is characterized by progressively reduced sensation to pain, temperature, and touch. Onset can be at birth and is often before puberty. The sensory deficit is predominantly distal with the lower limbs more severely affected than the upper limbs. Over time sensory function becomes severely reduced. Unnoticed injuries and neuropathic skin promote ulcerations and infections that result in spontaneous amputation of digits or the need for surgical amputation. Osteomyelitis is common. Painless fractures can complicate the disease. Autonomic disturbances are variable and can include hyperhidrosis, tonic pupils, and urinary incontinence in those with more advanced disease.|GeneReviews|N|
C2751288|Severe congenital neutropenia inherited in an autosomal dominant pattern and caused by mutation(s) in the GFI1 gene, encoding zinc finger protein Gfi-1.|NCI|N|
C2751290|Central areolar choroidal dystrophy-2 (CACD2) is a hereditary retinal disorder that principally affects the macula, often resulting in a well-defined area of atrophy of the retinal pigment epithelium (RPE) and choriocapillaris in the center of the macula. Dysfunction of macular photoreceptors usually leads to a decrease in visual acuity, generally occurring between the ages of 30 and 60 years (summary by Boon et al., 2009).
For a discussion of genetic heterogeneity of central areolar choroidal dystrophy, see CACD1 (215500).|OMIM|N|
C2751292|Hypotrichosis and recurrent skin vesicles (HYPTSV) is characterized by sparse to absent scalp hair, eyebrows, eyelashes, and body hair, as well as recurrent vesicles of scalp and skin. Some patients also exhibit trauma-induced blistering, and anomalies of dental enamel and of nails may be observed (Ayub et al., 2009; Onoufriadis et al., 2020).|OMIM|N|
C2751293|Familial hemophagocytic lymphohistiocytosis-5 with or without microvillus inclusion disease (FHL5) is an autosomal recessive hyperinflammatory disorder characterized clinically by fever, hepatosplenomegaly, pancytopenia, coagulation abnormalities, and other laboratory findings. Some patients have neurologic symptoms due to inflammatory CNS disease. There is uncontrolled and ineffective proliferation and activation of T lymphocytes, NK cells, and macrophages that infiltrate multiple organs, including liver, spleen, lymph nodes, and the CNS. The phenotype is variable: some patients may present in early infancy with severe diarrhea, prior to the onset of typical FHL features, whereas others present later in childhood and have a more protracted course without diarrhea. The early-onset diarrhea is due to enteropathy reminiscent of microvillus inclusion disease (see MVID, 251850). The enteropathy, which often necessitates parenteral feeding, may be the most life-threatening issue even after hematopoietic stem cell transplantation (HSCT). More variable features include sensorineural hearing loss and hypogammaglobulinemia. Treatment with immunosuppressive drugs and chemotherapy can ameliorate signs and symptoms of FHL in some patients, but the only curative therapy for FHL is HSCT. HSCT is not curative for enteropathy associated with the disorder, despite hematologic and immunologic reconstitution (summary by Meeths et al., 2010; Pagel et al., 2012; Stepensky et al., 2013).
For a phenotypic description and a discussion of genetic heterogeneity of familial hemophagocytic lymphohistiocytosis (FHL, HLH), see 267700.|OMIM|N|
C2751294|Any open-angle glaucoma in which the cause of the disease is a mutation in the NTF4 gene.|MONDO|N|
C2751295|Malignant melanoma is a neoplasm of pigment-producing cells called melanocytes that occurs most often in the skin, but may also occur in the eyes, ears, gastrointestinal tract, leptomeninges, and oral and genital mucous membranes (summary by Habif, 2010).
For a discussion of genetic heterogeneity of malignant melanoma, see 155600.|OMIM|N|
C2751306|Autosomal dominant polycystic kidney disease (ADPKD) is generally a late-onset multisystem disorder characterized by bilateral kidney cysts, liver cysts, and an increased risk of intracranial aneurysms. Other manifestations include: cysts in the pancreas, seminal vesicles, and arachnoid membrane; dilatation of the aortic root and dissection of the thoracic aorta; mitral valve prolapse; and abdominal wall hernias. Kidney manifestations include early-onset hypertension, kidney pain, and kidney insufficiency. Approximately 50% of individuals with ADPKD have end-stage kidney disease (ESKD) by age 60 years. The prevalence of liver cysts increases with age and occasionally results in clinically significant severe polycystic liver disease (PLD), most often in females. Overall, the prevalence of intracranial aneurysms is fivefold higher than in the general population and further increased in those with a positive family history of aneurysms or subarachnoid hemorrhage. There is substantial variability in the severity of kidney disease and other extra-kidney manifestations.|GeneReviews|N|
C2751307|Any isolated microphthalmia in which the cause of the disease is a mutation in the GDF6 gene.|MONDO|N|
C2751308|Achromatopsia is characterized by reduced visual acuity, pendular nystagmus, increased sensitivity to light (photophobia), a small central scotoma, eccentric fixation, and reduced or complete loss of color discrimination. All individuals with achromatopsia (achromats) have impaired color discrimination along all three axes of color vision corresponding to the three cone classes: the protan or long-wavelength-sensitive cone axis (red), the deutan or middle-wavelength-sensitive cone axis (green), and the tritan or short-wavelength-sensitive cone axis (blue). Most individuals have complete achromatopsia, with total lack of function of all three types of cones. Rarely, individuals have incomplete achromatopsia, in which one or more cone types may be partially functioning. The manifestations are similar to those of individuals with complete achromatopsia, but generally less severe. Hyperopia is common in achromatopsia. Nystagmus develops during the first few weeks after birth followed by increased sensitivity to bright light. Best visual acuity varies with severity of the disease; it is 20/200 or less in complete achromatopsia and may be as high as 20/80 in incomplete achromatopsia. Visual acuity is usually stable over time; both nystagmus and sensitivity to bright light may improve slightly. Although the fundus is usually normal, macular changes (which may show early signs of progression) and vessel narrowing may be present in some affected individuals. Defects in the macula are visible on optical coherence tomography.|GeneReviews|N|
C2751309|Achromatopsia is a condition characterized by a partial or total absence of color vision. People with complete achromatopsia cannot perceive any colors; they see only black, white, and shades of gray. Incomplete achromatopsia is a milder form of the condition that allows some color discrimination.\n\nAchromatopsia also involves other problems with vision, including an increased sensitivity to light and glare (photophobia), involuntary back-and-forth eye movements (nystagmus), and significantly reduced sharpness of vision (low visual acuity). Affected individuals can also have farsightedness (hyperopia) or, less commonly, nearsightedness (myopia). These vision problems develop in the first few months of life.\n\nAchromatopsia is different from the more common forms of color vision deficiency (also called color blindness), in which people can perceive color but have difficulty distinguishing between certain colors, such as red and green.|MedlinePlus Genetics|N|
C2751310|The two clinical presentations observed in autosomal dominant tubulointerstitial kidney disease – REN (ADTKD-REN) correlate with the renin protein domains affected by the causative REN variants. Childhood/adolescent onset, the more common presentation (caused by REN variants encoding the signal peptide or prosegment domains), is characterized by decreased estimated glomerular filtration rate, acidosis, hyperkalemia, and anemia early in life, followed by slowly progressive chronic kidney disease (CKD) and gout. Adult onset, the less common presentation (caused by REN variants encoding the mature renin peptide), is characterized by gout or mild slowly progressive CKD, beginning in the third decade. Anemia, hyperkalemia, and acidemia do not occur.|GeneReviews|N|
C2751313|PIK3CA-related overgrowth spectrum (PROS) encompasses a range of clinical findings in which the core features are congenital or early-childhood onset of segmental/focal overgrowth with or without cellular dysplasia. Prior to the identification of PIK3CA as the causative gene, PROS was separated into distinct clinical syndromes based on the tissues and/or organs involved (e.g., MCAP [megalencephaly-capillary malformation] syndrome and CLOVES [congenital lipomatous asymmetric overgrowth of the trunk, lymphatic, capillary, venous, and combined-type vascular malformations, epidermal nevi, skeletal and spinal anomalies] syndrome). The predominant areas of overgrowth include the brain, limbs (including fingers and toes), trunk (including abdomen and chest), and face, all usually in an asymmetric distribution. Generalized brain overgrowth may be accompanied by secondary overgrowth of specific brain structures resulting in ventriculomegaly, a markedly thick corpus callosum, and cerebellar tonsillar ectopia with crowding of the posterior fossa. Vascular malformations may include capillary, venous, and less frequently, arterial or mixed (capillary-lymphatic-venous or arteriovenous) malformations. Lymphatic malformations may be in various locations (internal and/or external) and can cause various clinical issues, including swelling, pain, and occasionally localized bleeding secondary to trauma. Lipomatous overgrowth may occur ipsilateral or contralateral to a vascular malformation, if present. The degree of intellectual disability appears to be mostly related to the presence and severity of seizures, cortical dysplasia (e.g., polymicrogyria), and hydrocephalus. Many children have feeding difficulties that are often multifactorial in nature. Endocrine issues affect a small number of individuals and most commonly include hypoglycemia (largely hypoinsulinemic hypoketotic hypoglycemia), hypothyroidism, and growth hormone deficiency.|GeneReviews|N|
C2751315|Any atrial heart septal defect in which the cause of the disease is a mutation in the TLL1 gene.|MONDO|N|
C2751316|Primary congenital glaucoma (PCG) is characterized by elevated intraocular pressure (IOP), enlargement of the globe (buphthalmos), edema, and opacification of the cornea with rupture of Descemet's membrane (Haab's striae), thinning of the anterior sclera and iris atrophy, anomalously deep anterior chamber, and structurally normal posterior segment except for progressive glaucomatous optic atrophy. Symptoms include photophobia, blepharospasm, and excessive tearing. Typically, the diagnosis is made in the first year of life. Depending on when treatment is instituted, visual acuity may be reduced and/or visual fields may be restricted. In untreated individuals, blindness invariably occurs.|GeneReviews|N|
C2751318|Nijmegen breakage syndrome-like disorder (NBSLD) is an autosomal recessive disorder characterized by severe prenatal growth retardation and persistent postnatal growth restriction, congenital microcephaly, borderline to mildly impaired intellectual development, normal sexual development, and radioresistant DNA synthesis with no immunodeficiency, myelodysplasia, or early neurodegeneration (summary by Ragamin et al., 2020).|OMIM|N|
C2751319|Four phenotypes comprise the RRM2B mitochondrial DNA maintenance defects (RRM2B-MDMDs): RRM2B encephalomyopathic MDMD, the most severe phenotype, usually manifesting shortly after birth as hypotonia, poor feeding, and faltering growth requiring hospitalization. Subsequent assessments are likely to reveal multisystem involvement including sensorineural hearing loss, renal tubulopathy, and respiratory failure. Autosomal dominant progressive external ophthalmoplegia (adPEO), typically adult onset; other manifestations can include ptosis, bulbar dysfunction, fatigue, and muscle weakness. RRM2B autosomal recessive progressive external ophthalmoplegia (arPEO), a typically childhood-onset predominantly myopathic phenotype of PEO, ptosis, proximal muscle weakness, and bulbar dysfunction. RRM2B mitochondrial neurogastrointestinal encephalopathy (MNGIE)-like, characterized by progressive ptosis, ophthalmoplegia, gastrointestinal dysmotility, cachexia, and peripheral neuropathy. To date, 78 individuals from 52 families with a molecularly confirmed RRM2B-MDMD have been reported.|GeneReviews|N|
C2751320|Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome is a rare, genetic, mitochondrial myopathy disorder characterized by congenital cataract, progressive muscular hypotonia that particularly affects the lower limbs, reduced deep tendon reflexes, sensorineural hearing loss, global development delay and lactic acidosis. Muscle biopsy reveals reduced complex I, II and IV respiratory chain activity.|ORDO|N|
C2751321|A very rare inherited connective tissue disorder with characteristics of macrocephaly, sparse scalp hair, soft redundant and hyperextensible skin, joint hypermobility, and scoliosis. Patients have progressive facial coarsening with downslanted palpebral fissures, upper eyelid fullness/infraorbital folds, thick/everted vermillion, gingival overgrowth and abnormal position of the teeth. Rare manifestations such as abnormal high-pitched voice, bronchiectasis, hypergonadotropic hypergonadism and brachydactyly have also been reported. Caused by homozygous mutation in the RIN2 gene on chromosome 20p11.|SNOMEDCT_US|N|
C2751322|Any metaphyseal anadysplasia in which the cause of the disease is a mutation in the MMP9 gene.|MONDO|N|
C2751324|Bronchiectasis with or without elevated sweat chloride-3 (BESC3) is characterized by dilation of the airways arising from chronic bronchial inflammation accompanied by chronic cough, purulent sputum, and recurrent lower respiratory tract infections. Most patients show some degree of airflow obstruction (Fajac et al., 2008).|OMIM|N|
C2751429|Chronic mucocutaneous candidiasis (CMC) includes a group of rare disorders with altered immune responses, selective against Candida, characterized by persistent and/or recurrent infections of the skin, nails, and mucous membranes, caused by organisms of the genus Candida, mainly Candida albicans (Zuccarello et al., 2002).
Isolated familial chronic mucocutaneous candidiasis is distinct from candidiasis with endocrinopathy (240300).
In myeloperoxidase deficiency (254600), susceptibility to candidiasis may be increased.
Genetic Heterogeneity of Candidiasis
Familial candidiasis-1 (CANDF1) maps to chromosome 2p. CANDF2 (212050) is caused by mutation in the CARD9 gene (607212) on chromosome 9q34.3. CANDF3 (607644), a form restricted to nails of the hands and feet, maps to chromosome 11. CANDF4 (613108) is caused by mutation in the CLEC7A gene (606264) on chromosome 12p13. CANDF6 (613956) is caused by mutation in the IL17F gene (606496) on chromosome 6p12. CANDF7 (614162) is caused by mutation in the STAT1 gene (600555) on chromosome 2q32. CANDF8 (615527) is caused by mutation in the TRAF3IP2 gene (607043) on chromosome 6q21. CANDF9 (616445) is caused by mutation in the IL17RC gene (610925) on chromosome 3p25.
A form of familial candidiasis, previously thought to be isolated and designated CANDF5, has been found to be part of a primary immune deficiency (IMD51; 613953) that includes Staphylococcal skin infections and increased susceptibility to chronic bacterial respiratory infections.|OMIM|N|
C2751430|Camptodactyly is defined as a permanent flexion contrature of 1 or both fifth fingers at the proximal interphalangeal joints. Additional fingers might be affected, but the little finger is always involved. Usually the condition appears to be sporadic in a family, but clinical examination of relatives reveals that it is an autosomal dominant condition subject to incomplete penetrance and variable expressivity (summary by Malik et al., 2008).|OMIM|N|
C2751492|Hereditary transthyretin (ATTR) amyloidosis is characterized by a slowly progressive peripheral sensorimotor and/or autonomic neuropathy as well as non-neuropathic changes of cardiomyopathy, nephropathy, vitreous opacities, and CNS amyloidosis. The disease usually begins in the third to fifth decade in persons from endemic foci in Portugal and Japan; onset is later in persons from other areas. Typically, sensory neuropathy starts in the lower extremities with paresthesias and hypesthesias of the feet, followed within a few years by motor neuropathy. In some persons, particularly those with early-onset disease, autonomic neuropathy is the first manifestation of the condition; findings can include: orthostatic hypotension, constipation alternating with diarrhea, attacks of nausea and vomiting, delayed gastric emptying, sexual impotence, anhidrosis, and urinary retention or incontinence. Cardiac amyloidosis is mainly characterized by progressive cardiomyopathy. Individuals with leptomeningeal amyloidosis may have the following CNS findings: dementia, psychosis, visual impairment, headache, seizures, motor paresis, ataxia, myelopathy, hydrocephalus, or intracranial hemorrhage.|GeneReviews|N|
C2751494|A form of hereditary cerebral hemorrhage with amyloidosis characterized by an age of onset of 54-61 years, progressive Alzheimer's disease-like dementia, and absence of intracerebral hemorrhages. This subtype is due to a mutation in the <i>APP</i> gene (21q21.2), encoding the beta-amyloid precursor protein. This mutation causes an increased accumulation of amyloid-beta protein in the walls of the arteries and capillaries of the meninges, cerebellar cortex and cerebral cortex, leading to the weakening and eventual rupture of these vessels.|ORDO|N|
C2751532|Mitochondrial HMG-CoA synthase deficiency (HMGCS2D) is an inherited metabolic disorder caused by a defect in the enzyme that regulates the formation of ketone bodies. Patients present with hypoketotic hypoglycemia, encephalopathy, and hepatomegaly, usually precipitated by an intercurrent infection or prolonged fasting (summary by Aledo et al., 2006).|OMIM|N|
C2751535|Platelet prostaglandin-endoperoxidase synthase-1 deficiency is a hematologic disorder characterized by mildly increased bleeding due to a platelet defect. The PTGS1 gene (176805) encodes prostaglandin-endoperoxidase synthase-1, also known as COX1 or PGHS1, which catalyzes the formation of prostaglandin G2 (PGG2) and prostaglandin H2 from arachidonic acid, and the downstream formation of thromboxane A2 (TXA2) and prostacyclin. Thromboxane A2 is important for platelet aggregation (summary by Matijevic-Aleksic et al., 1996).|OMIM|N|
C2751536|Cerebral amyloid angiopathy, or cerebroarterial amyloidosis, refers to a pathologic process in which amyloid protein progressively deposits in cerebral blood vessel walls with subsequent degenerative vascular changes that usually result in spontaneous cerebral hemorrhage, ischemic lesions, and progressive dementia. APP-related CAA is the most common form of CAA (Revesz et al., 2003, 2009).|OMIM|N|
C2751544|Cutaneous basal cell carcinoma (BCC) is the most common cancer among people of European ancestry (Stacey et al., 2009). The primary environmental risk factor for BCC is sun exposure, but genetics also has a substantial role. Some of the sequence variants that confer susceptibility seem to operate through their association with fair-pigmentation traits common among Europeans, resulting in reduced protection from the damaging effects of ultraviolet (UV) radiation. Other sequence variants have no obvious role in pigmentation or UV susceptibility but instead seem to operate in the contexts of growth and differentiation of the basal layers of the skin (Stacey et al., 2008; Epstein, 2008; Gudbjartsson et al., 2008; Rafnar et al., 2009). See ASIP (600201), TYR (606933), and SHEP5 (227240) for examples of basal cell carcinoma associated with fair skin or sensitivity to sun.
Basal cell carcinoma occurs as a feature of multiple syndromes, including basal cell nevus syndrome (BCNS; 109400), Bazex syndrome (301845), Rombo syndrome (180730), Brooke-Spiegler syndrome (605041), Muir-Torre syndrome (158320), and xeroderma pigmentosum (see 278700).
Abnormalities in the Hedgehog signaling pathway are found in basal cell carcinomas; see SHH (600725) and SMOH (601500).
Genetic Heterogeneity of Susceptibility to Basal Cell Carcinoma
Susceptibility to basal cell carcinoma is a genetically heterogeneous trait. The BCC1 locus maps to chromosome 1p36. Also see BCC2 (613058) on 1q42; BCC3 (613059) on 5p15; BCC4 (613061) on 12q13; BCC5 (613062) on 9p21; and BCC6 (613063) on 7q32. Variation in the 3-prime untranslated region of TP53 (191170) increases susceptibility to basal cell carcinoma (BCC7; 614740).
Somatic mutation contributing to the formation of basal cell carcinoma has been identified in the RASA1 (139150), PTCH1 (601309), and PTCH2 (603673) genes.|OMIM|N|
C2751584|NCFTD is an autosomal recessive disorder resulting from brain-specific folate deficiency early in life. Onset is apparent in late infancy with severe developmental regression, movement disturbances, epilepsy, and leukodystrophy. Recognition and diagnosis of this disorder is critical because folinic acid therapy can reverse the clinical symptoms and improve brain abnormalities and function (Steinfeld et al., 2009).|OMIM|N|
C2751599|An inherited susceptibility or predisposition to developing atopic dermatitis that is associated with variation in the region 11q13.5.|MONDO|N|
C2751603|Idiopathic generalized epilepsy (EIG) is a broad term that encompasses several common seizure phenotypes, classically including childhood absence epilepsy (CAE, ECA), juvenile absence epilepsy (JAE), and juvenile myoclonic epilepsy (JME, EJM) (Commission on Classification and Terminology of the International League Against Epilepsy, 1989). Generalized epilepsy with febrile seizures plus (GEFS+) shows phenotypic overlap with IGE, and includes patients with early-onset febrile seizures who later develop various types of febrile and afebrile seizures, such as those observed in EIG (summary by Singh et al., 1999).
For a general phenotypic description and a discussion of genetic heterogeneity of EIG, see 600669.
For a general phenotypic description and a discussion of genetic heterogeneity of GEFS+, see 604233.
For a general phenotypic description and a discussion of genetic heterogeneity of EJM, see 254770.|OMIM|N|
C2751607|Atrial fibrillation is the most common sustained cardiac rhythm disturbance, affecting more than 2 million Americans, with an overall prevalence of 0.89%. The prevalence increases rapidly with age, to 2.3% between the ages of 40 and 60 years, and to 5.9% over the age of 65. The most dreaded complication is thromboembolic stroke (Brugada et al., 1997).
For a discussion of genetic heterogeneity of atrial fibrillation, see 608583.|OMIM|N|
C2751608|Combined pituitary hormone deficiency (CPHD) in man denotes impaired production of growth hormone (GH; 139250) and one or more of the other 5 anterior pituitary hormones. Mutations of the POU1F1 gene in the human and Pit1 in the mouse are responsible for pleiotropic deficiencies of GH, prolactin (PRL; 176760), and thyroid-stimulating hormone (TSH; see 188540), while the production of adrenocorticotrophic hormone (ACTH; see 176830), luteinizing hormone (LH; 152780), and follicle-stimulating hormone (FSH; 136530) are preserved (Wu et al., 1998). Some patients exhibit only GH deficiency, although approximately 50% of isolated GH deficiency progresses to CPHD (Gergics et al., 2021). In infancy severe growth deficiency from birth as well as distinctive facial features with prominent forehead, marked midfacial hypoplasia with depressed nasal bridge, deep-set eyes, and a short nose with anteverted nostrils and hypoplastic pituitary gland by MRI examination can be seen (Aarskog et al., 1997). Some cases present with severe mental retardation along with short stature (Radovick et al., 1992).
Reviews
Voss and Rosenfeld (1992) reviewed the development and differentiation of the 5 pituitary cell types: galactotropes, gonadotropes, corticotropes, thyrotropes, and somatotropes. As indicated by the mutations in PIT1 described later, combined pituitary hormone deficiency can have either autosomal dominant or autosomal recessive inheritance, depending on the part of the PIT1 molecule affected by the mutation. Some mutations have a dominant-negative effect.
Genetic Heterogeneity of Combined Pituitary Hormone Deficiency
CPHD2 (262600), associated with hypogonadism, is caused by mutation in the PROP1 gene (601538). CPHD3 (221750), which is associated with rigid cervical spine and variable sensorineural deafness, is caused by mutation in the LHX3 gene (600577). CPHD4 (262700) is caused by mutation in the LHX4 gene (602146). CPHD5 (see septooptic dysplasia, 182230) is caused by mutation in the HESX1 gene (601802). CPHD6 (613986) is caused by mutation in the OTX2 gene (600037). CPHD7 (618160) is caused by mutation in the RNPC3 gene (618016).|OMIM|N|
C2751630|G6PC3 deficiency is characterized by severe congenital neutropenia which occurs in a phenotypic continuum that includes the following: Isolated severe congenital neutropenia (nonsyndromic). Classic G6PC3 deficiency (severe congenital neutropenia plus cardiovascular and/or urogenital abnormalities). Severe G6PC3 deficiency (classic G6PC3 deficiency plus involvement of non-myeloid hematopoietic cell lines, additional extra-hematologic features, and pulmonary hypertension; known as Dursun syndrome). Neutropenia usually presents with recurrent bacterial infections in the first few months of life. Intrauterine growth restriction (IUGR), failure to thrive (FTT), and poor postnatal growth are common. Other findings in classic and severe G6PC3 deficiency can include inflammatory bowel disease (IBD) resembling Crohn's disease, and endocrine disorders (growth hormone deficiency, hypogonadotropic hypogonadism, and delayed puberty).|GeneReviews|N|
C2751641|Any malignant glioma in which the cause of the disease is a mutation in the BRCA2 gene.|MONDO|N|
C2751642|Any malignant glioma in which the cause of the disease is a mutation in the PTEN gene.|MONDO|N|
C2751643|Phosphorylase kinase (PhK) deficiency causing glycogen storage disease type IX (GSD IX) results from deficiency of the enzyme phosphorylase b kinase, which has a major regulatory role in the breakdown of glycogen. The two types of PhK deficiency are liver PhK deficiency (characterized by early childhood onset of hepatomegaly and growth restriction, and often, but not always, fasting ketosis and hypoglycemia) and muscle PhK deficiency, which is considerably rarer (characterized by any of the following: exercise intolerance, myalgia, muscle cramps, myoglobinuria, and progressive muscle weakness). While symptoms and biochemical abnormalities of liver PhK deficiency were thought to improve with age, it is becoming evident that affected individuals need to be monitored for long-term complications such as liver fibrosis and cirrhosis.|GeneReviews|N|
C2751651|The 19q13.11 microdeletion is characterized by several major features including pre and postnatal growth retardation, slender habitus, severe postnatal feeding difficulties, microcephaly, intellectual deficit with speech disturbance, hypospadias and ectodermal dysplasia presented by scalp aplasia, thin and sparse hair, eyebrows and eyelashes, thin and dry skin and dysplasic nails.|ORDO|N|
C2751663|A schizophrenia that has material basis in a mutation on chromosome 15q13.|MONDO|N|
C2751665|Follicular non-Hodgkin lymphoma is an indolent B-cell malignancy with an annual incidence exceeding 10,000 cases in the United States (Bohen et al., 2003). One form of susceptibility to follicular lymphoma (FL1) is associated with a region on chromosome 6p21.33.|OMIM|N|
C2751666|Patients with bronchiectasis with or without elevated sweat chloride-2 (BESC2) have bronchiectasis and chronic bronchitis of varying severity. Pancreatic insufficiency may be present (Azad et al., 2009).
For discussion of genetic heterogeneity in bronchiectasis with or without elevated sweat chloride, see BESC1 (211400).|OMIM|N|
C2751681|ALK-related neuroblastic tumor susceptibility is characterized by increased risk for neuroblastic tumors including neuroblastoma, ganglioneuroblastoma, and ganglioneuroma. Neuroblastoma is a more malignant tumor and ganglioneuroma a more benign tumor. Depending on the histologic findings, ganglioneuroblastoma can behave in a more aggressive fashion, like neuroblastoma, or in a benign fashion, like ganglioneuroma. Preliminary data from the ten reported families with ALK-related neuroblastic tumor susceptibility suggest an overall penetrance of approximately 57% with the risk for neuroblastic tumor development highest in infancy and decreasing by late childhood.|GeneReviews|N|
C2751682|In addition, neuroblastoma tumors can release hormones that may cause other signs and symptoms such as high blood pressure, rapid heartbeat, flushing of the skin, and sweating. In rare instances, individuals with neuroblastoma may develop opsoclonus myoclonus syndrome, which causes rapid eye movements and jerky muscle motions. This condition occurs when the immune system malfunctions and attacks nerve tissue.\n\nNeuroblastoma occurs most often in children before age 5 and rarely occurs in adults.\n\nIndividuals with neuroblastoma may develop general signs and symptoms such as irritability, fever, tiredness (fatigue), pain, loss of appetite, weight loss, or diarrhea. More specific signs and symptoms depend on the location of the tumor and where it has spread. A tumor in the abdomen can cause abdominal swelling. A tumor in the chest may lead to difficulty breathing. A tumor in the neck can cause nerve damage known as Horner syndrome, which leads to drooping eyelids, small pupils, decreased sweating, and red skin. Tumor metastasis to the bone can cause bone pain, bruises, pale skin, or dark circles around the eyes. Tumors in the backbone can press on the spinal cord and cause weakness, numbness, or paralysis in the arms or legs. A rash of bluish or purplish bumps that look like blueberries indicates that the neuroblastoma has spread to the skin.\n\nNeuroblastoma is a type of cancer that most often affects children. Neuroblastoma occurs when immature nerve cells called neuroblasts become abnormal and multiply uncontrollably to form a tumor. Most commonly, the tumor originates in the nerve tissue of the adrenal gland located above each kidney. Other common sites for tumors to form include the nerve tissue in the abdomen, chest, neck, or pelvis. Neuroblastoma can spread (metastasize) to other parts of the body such as the bones, liver, or skin.|MedlinePlus Genetics|N|
C2751695|Primary biliary cirrhosis (PBC) is a chronic, progressive cholestatic liver disease that usually affects middle-aged women and eventually leads to liver failure (summary by Kaplan, 1996).
For a discussion of genetic heterogeneity of primary biliary cirrhosis (PBC), see PBC1 (109720).|OMIM|N|
C2751696|Primary biliary cirrhosis (PBC) is a chronic, progressive cholestatic liver disease that usually affects middle-aged women and eventually leads to liver failure (summary by Kaplan, 1996).
For a discussion of genetic heterogeneity of primary biliary cirrhosis (PBC), see PBC1 (109720).|OMIM|N|
C2751697|An inherited susceptibility or predisposition to developing type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 10q23.31.|MONDO|N|
C2751756|An autosomal dominant condition caused by mutation(s) in the SCN1A gene, encoding sodium channel protein type 1 subunit alpha. It is characterized by isolated febrile seizures, typically with onset between 3 months to 5 years, with spontaneous remission by 6 years of age. Mutation(s) in the SCN1A gene are also responsible for generalized epilepsy with febrile seizures plus, type 2; and Dravet syndrome.|NCI|N|
C2751778|Patients with isolated febrile seizures (FEB3B) usually have onset between ages 5 months to 4 years and show spontaneous remission by age 6 years (summary by Singh et al., 2009), whereas patients with GEFS+ continue to have various types of febrile and afebrile seizures later in life (summary by Singh et al., 1999).
For a general phenotypic description and a discussion of genetic heterogeneity of GEFS+, see 604233.
For a phenotypic description and a discussion of genetic heterogeneity of familial febrile seizures, see 121210.|OMIM|N|
C2751802|Attention-deficit/hyperactivity disorder (ADHD) is a behavioral disorder that typically begins in childhood and is characterized by a short attention span (inattention), an inability to be calm and stay still (hyperactivity), and poor impulse control (impulsivity). Some people with ADHD have problems with only inattention or with hyperactivity and impulsivity, but most have problems related to all three features.\n\nIn people with ADHD, the characteristic behaviors are frequent and severe enough to interfere with the activities of daily living such as school, work, and relationships with others. Because of an inability to stay focused on tasks, people with inattention may be easily distracted, forgetful, avoid tasks that require sustained attention, have difficulty organizing tasks, or frequently lose items.\n\nIn most affected individuals, ADHD continues throughout life, but in about one-third of individuals, signs and symptoms of ADHD go away by adulthood.\n\nHyperactivity is usually shown by frequent movement. Individuals with this feature often fidget or tap their foot when seated, leave their seat when it is inappropriate to do so (such as in the classroom), or talk a lot and interrupt others.\n\nImpulsivity can result in hasty actions without thought for the consequences. Individuals with poor impulse control may have difficulty waiting for their turn, deferring to others, or considering their actions before acting.\n\nMore than two-thirds of all individuals with ADHD have additional conditions, including insomnia, mood or anxiety disorders, learning disorders, or substance use disorders. Affected individuals may also have autism spectrum disorder, which is characterized by impaired communication and social interaction, or Tourette syndrome, which is a disorder characterized by repetitive and involuntary movements or noises called tics.|MedlinePlus Genetics|N|
C2751803|Immunodeficiency-83 (IMD83) is characterized by increased susceptibility to severe viral infections, including herpes simplex virus (HSV), varicella zoster virus (VZV), influenza A virus (IAV), hantavirus, and possibly respiratory syncytial virus (RSV). The age at onset varies widely from infancy to adulthood, and there is incomplete penetrance. The susceptibility to encephalitis or pneumonitis appears to result from impaired TLR3-dependent interferon production by nonhematopoietic cells that reside within the central nervous system (CNS) or lung epithelial cells (review by Zhang et al., 2013; summary by Mork et al., 2015; Sironi et al., 2017, Lim et al., 2019, Partanen et al., 2020).
For a general phenotypic description of herpes simplex encephalitis and a discussion of genetic heterogeneity of acute infection-induced encephalopathy, see 610551.|OMIM|N|
C2751805|Any autosomal dominant Emery-Dreifuss muscular dystrophy in which the cause of the disease is a mutation in the SYNE2 gene.|MONDO|N|
C2751807|Any autosomal dominant Emery-Dreifuss muscular dystrophy in which the cause of the disease is a mutation in the SYNE1 gene.|MONDO|N|
C2751811|CATSPER-related male infertility results from abnormalities in sperm and can be either CATSPER-related nonsyndromic male infertility (NSMI) or the deafness-infertility syndrome (DIS) when associated with non-progressive prelingual sensorineural hearing loss. Males with NSMI have infertility while females have no symptoms. Males with DIS have both infertility and hearing loss, while females have only hearing loss. Routine semen analysis typically identifies abnormalities in sperm number, morphology, and motility. Otologic examination and audiologic assessment can identify hearing loss.|GeneReviews|N|
C2751812|A rare, syndromic, hereditary optic neuropathy disorder characterized by early-onset, severe, progressive visual impairment, optic disc pallor and central scotoma, variably associated with dyschromatopsia, auditory neuropathy (e.g. mild progressive sensorineural hearing loss), sensorimotor axonal neuropathy and, occasionally, moderate hypertrophic cardiomyopathy.|ORDO|N|
C2751814|Age-related hearing impairment (ARHI), or presbycusis, is the progressive, bilaterally symmetric deterioration of hearing ability that occurs with aging. Studies of the cochlea in many animal species and of the histopathology of human temporal bones have shown that stria vascularis volumes and spiral ganglion cell, inner hair cell, and outer hair cell populations, as well as many other cochlear cell types and structures, undergo age-related degeneration. Environmental risk factors for ARHI include noise exposure, smoking, ototoxic medication, and cardiovascular disease. Heritability estimates vary between 0.25 and 0.75 depending on, among other factors, study design (family vs twins), age range of the study population, and the phenotype studied (Huyghe et al., 2008).|OMIM|N|
C2751822|Mutations in the FOXE3 gene have been found to cause multiple types of cataract, which have been described as membranous and posterior subcapsular.|OMIM|N|
C2751824|Differences of sex development in individuals with 46,XY karyotype.|NCI|N|
C2751825|Any primary ovarian failure in which the cause of the disease is a mutation in the NR5A1 gene.|MONDO|N|
C2751826|Any multiple synostoses syndrome in which the cause of the disease is a mutation in the FGF9 gene.|MONDO|N|
C2751829|Any ventricular fibrillation in which the cause of the disease is a mutation in the DPP6 gene.|MONDO|N|
C2751830|Long QT syndrome (LQTS) is a cardiac electrophysiologic disorder, characterized by QT prolongation and T-wave abnormalities on the EKG that are associated with tachyarrhythmias, typically the ventricular tachycardia torsade de pointes (TdP). TdP is usually self-terminating, thus causing a syncopal event, the most common symptom in individuals with LQTS. Such cardiac events typically occur during exercise and emotional stress, less frequently during sleep, and usually without warning. In some instances, TdP degenerates to ventricular fibrillation and causes aborted cardiac arrest (if the individual is defibrillated) or sudden death. Approximately 50% of untreated individuals with a pathogenic variant in one of the genes associated with LQTS have symptoms, usually one to a few syncopal events. While cardiac events may occur from infancy through middle age, they are most common from the preteen years through the 20s. Some types of LQTS are associated with a phenotype extending beyond cardiac arrhythmia. In addition to the prolonged QT interval, associations include muscle weakness and facial dysmorphism in Andersen-Tawil syndrome (LQTS type 7); hand/foot, facial, and neurodevelopmental features in Timothy syndrome (LQTS type 8); and profound sensorineural hearing loss in Jervell and Lange-Nielson syndrome.|GeneReviews|N|
C2751831|Myofibrillar myopathy-6 is an autosomal dominant severe neuromuscular disorder characterized by onset in the first decade of rapidly progressive generalized and proximal muscle weakness, respiratory insufficiency, cardiomyopathy, and skeletal deformities related to muscle weakness. Muscle biopsy shows fiber-type grouping, disruption of the Z lines, and filamentous inclusions, and sural nerve biopsy shows a neuropathy, often with giant axonal neurons. Most patients are severely affected by the second decade and need cardiac transplant, ventilation, and/or a wheelchair (summary by Jaffer et al., 2012).
For a phenotypic description and a discussion of genetic heterogeneity of myofibrillar myopathy (MFM), see MFM1 (601419).|OMIM|N|
C2751842|Generally, Parkinson's disease that begins after age 50 is called late-onset disease. The condition is described as early-onset disease if signs and symptoms begin before age 50. Early-onset cases that begin before age 20 are sometimes referred to as juvenile-onset Parkinson's disease.\n\nParkinson's disease can also affect emotions and thinking ability (cognition). Some affected individuals develop psychiatric conditions such as depression and visual hallucinations. People with Parkinson's disease also have an increased risk of developing dementia, which is a decline in intellectual functions including judgment and memory.\n\nOften the first symptom of Parkinson's disease is trembling or shaking (tremor) of a limb, especially when the body is at rest. Typically, the tremor begins on one side of the body, usually in one hand. Tremors can also affect the arms, legs, feet, and face. Other characteristic symptoms of Parkinson's disease include rigidity or stiffness of the limbs and torso, slow movement (bradykinesia) or an inability to move (akinesia), and impaired balance and coordination (postural instability). These symptoms worsen slowly over time.\n\nParkinson's disease is a progressive disorder of the nervous system. The disorder affects several regions of the brain, especially an area called the substantia nigra that controls balance and movement.|MedlinePlus Genetics|N|
C2751843|RNAse T2-deficient leukoencephalopathy is a disorder that affects the brain. People with RNAse T2-deficient leukoencephalopathy have neurological problems that become apparent during infancy; the problems generally do not worsen over time (progress). Most affected individuals have severe intellectual disability; muscle stiffness (spasticity); and a delay in developing motor skills such as sitting, crawling, and walking. Some do not learn to walk, and most do not develop the ability to speak. Other neurological features that can occur in RNAse T2-deficient leukoencephalopathy include hearing loss caused by abnormalities in the inner ear (sensorineural deafness), seizures, involuntary writhing movements of the hands (athetosis), uncontrolled muscle tensing (dystonia), and involuntary eye movements (nystagmus). In addition to the neurological problems associated with this disorder, some affected individuals have unusual facial features sometimes described as a "doll-like face."\n\nThe neurological problems in this disorder are caused by abnormalities in the brain. People with this condition have leukoencephalopathy, an abnormality of the brain's white matter that can be detected with medical imaging. White matter consists of nerve fibers covered by a fatty substance called myelin. Myelin insulates nerve fibers and promotes the rapid transmission of nerve impulses. In people with RNAse T2-deficient leukoencephalopathy, myelin is not made in sufficient amounts during development, leading to patchy white matter abnormalities (lesions) in the brain. In addition, individuals with RNAse T2-deficient leukoencephalopathy may have cysts in regions of the brain called the temporal lobes and enlargement of the fluid-filled cavities (ventricles) near the center of the brain.  The white matter lesions are primarily concentrated around the cysts and the ventricles. An abnormally small head and brain size (microcephaly) often occurs in this disorder.|MedlinePlus Genetics|N|
C2751855|Developmental and epileptic encephalopathy-39 with leukodystrophy (DEE39) is an autosomal recessive neurologic syndrome characterized clinically by global developmental delay apparent in early infancy, early-onset seizures, hypotonia with poor motor function, and hypomyelination on brain imaging. Other features include absent speech and inability to walk; spasticity and hyperreflexia has also been reported. Although there is significant hypomyelination on brain imaging, the disorder was not classified as a primary leukodystrophy. The myelination defect was thought to stem from primary neuronal dysfunction due to impaired mitochondrial transport activity (summary by Wibom et al., 2009 and Falk et al., 2014). However, serial brain imaging in a patient with DEE39 by Kavanaugh et al. (2019) suggested that the mechanism of disease is consistent with a leukoaxonopathy type of leukodystrophy.
For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350.|OMIM|N|
C2751878|A rare syndrome with characteristics of pre-natal onset growth retardation (low birth weight and short stature), hypotonia, developmental delay and intellectual disability associated with microcephaly and craniofacial (low anterior hairline, hypotelorism, thick lips with carp-shaped mouth, high-arched palate, low-set ears), cardiac (conotruncal heart malformations such as tetralogy of Fallot) and skeletal (hypoplastic thumbs and first metacarpals) abnormalities.|SNOMEDCT_US|N|
C2751898|Ventricular fibrillation (VF) is said to cause more than 300,000 sudden deaths each year in the US alone. In approximately 5 to 12% of cases, there are no demonstrable cardiac or noncardiac causes to account for the episode, which is therefore classified as idiopathic ventricular fibrillation (IVF). Patients with a distinct form of VF called Brugada syndrome (see 601144) present with a characteristic electrocardiographic pattern, with right bundle branch block (RBBB) and elevation of ST segment in leads V1 to V3 and may account for 40 to 60% of all IVF cases (review by Chen et al., 1998). Mutations in the SCN5A gene were identified in patients with Brugada syndrome-1 (601144).
Genetic Heterogeneity of Paroxysmal Familial Ventricular Fibrillation
Another familial form of VF (VF2; 612956) is caused by mutation in the DPP6 gene (126141) on chromosome 7q26.|OMIM|N|
C2751986|Any retinitis pigmentosa in which the cause of the disease is a mutation in the KLHL7 gene.|MONDO|N|
C2751987|The phenotype of autosomal recessive cutis laxa type II (ARCL2) includes cutis laxa of variable severity, abnormal growth, developmental delay, and associated skeletal abnormalities (summary by Morava et al., 2009). No specific clinical features distinguish ARCL2A (219200), which includes a glycosylation defect, and ARCL2B, in which abnormal glycosylation has not been reported (Morava et al., 2009; Guernsey et al., 2009).
For a phenotypic description and discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (219100).|OMIM|N|
C2752001|Growth retardation, developmental delay, and facial dysmorphism (GDFD) is an autosomal recessive multiple congenital anomaly syndrome characterized by severe psychomotor retardation, poor overall growth, and dysmorphic facial features. Additional features may include cardiac malformations and deafness (summary by Daoud et al., 2016).|OMIM|N|
C2752007|Limb-girdle muscular dystrophy-dystroglycanopathy type C15 (MDDGC15) is an autosomal recessive disorder characterized by progressive proximal muscle weakness, manifest initially as unsteady gait, but later including more distal muscles, and dilated cardiomyopathy. The age at onset varies widely from the first decade to adulthood; those with earlier onset may have delayed motor development. Laboratory studies show increased serum creatine kinase and muscle biopsy shows dystrophic features with decreased alpha-dystroglycan (DAG1; 128239). Biochemical studies often show evidence of abnormal N-glycosylation of serum proteins, consistent with a congenital disorder of glycosylation (CDG) (summary by Svahn et al., 2019).
For a discussion of genetic heterogeneity of muscular dystrophy- dystroglycanopathy type C, see MDDGC1 (609308).
For a discussion of the classification of CDGs, see CDG1A (212065).|OMIM|N|
C2752008|AP-4-associated hereditary spastic paraplegia (HSP), also known as AP-4 deficiency syndrome, is a group of neurodegenerative disorders characterized by a progressive, complex spastic paraplegia with onset typically in infancy or early childhood. Early-onset hypotonia evolves into progressive lower-extremity spasticity. The majority of children become nonambulatory and usually wheelchair bound. Over time spasticity progresses to involve the upper extremities, resulting in a spastic tetraplegia. Associated complications include dysphagia, contractures, foot deformities, dysregulation of bladder and bowel function, and a pseudobulbar affect. About 50% of affected individuals have seizures. Postnatal microcephaly (usually in the -2SD to -3SD range) is common. All have developmental delay. Speech development is significantly impaired and many affected individuals remain nonverbal. Intellectual disability in older children is usually moderate to severe.|GeneReviews|N|
C2752015|Congenital disorder of glycosylation type It (CDG1T) is an autosomal recessive disorder characterized by a wide range of clinical manifestations and severity. The most common features include cleft lip and bifid uvula, apparent at birth, followed by hepatopathy, intermittent hypoglycemia, short stature, and exercise intolerance, often accompanied by increased serum creatine kinase. Less common features include rhabdomyolysis, dilated cardiomyopathy, and hypogonadotropic hypogonadism (summary by Tegtmeyer et al., 2014).
For a discussion of the classification of CDGs, see CDG1A (212065).|OMIM|N|
C2752027|Muscle beta-enolase deficiency is a glycolysis disorder reported in one patient to date and characterized clinically by exercise intolerance and myalgia due to severe enolase deficiency in muscle.|ORDO|N|
C2752036|Hemolytic-uremic syndrome (HUS) is characterized by hemolytic anemia, thrombocytopenia, and renal failure caused by platelet thrombi in the microcirculation of the kidney and other organs. The onset of atypical HUS (aHUS) ranges from the neonatal period to adulthood. Genetic aHUS accounts for an estimated 60% of all aHUS. Individuals with genetic aHUS frequently experience relapse even after complete recovery following the presenting episode; 60% of genetic aHUS progresses to end-stage renal disease (ESRD).|GeneReviews|N|
C2752037|Hemolytic-uremic syndrome (HUS) is characterized by hemolytic anemia, thrombocytopenia, and renal failure caused by platelet thrombi in the microcirculation of the kidney and other organs. The onset of atypical HUS (aHUS) ranges from the neonatal period to adulthood. Genetic aHUS accounts for an estimated 60% of all aHUS. Individuals with genetic aHUS frequently experience relapse even after complete recovery following the presenting episode; 60% of genetic aHUS progresses to end-stage renal disease (ESRD).|GeneReviews|N|
C2752038|Hemolytic-uremic syndrome (HUS) is characterized by hemolytic anemia, thrombocytopenia, and renal failure caused by platelet thrombi in the microcirculation of the kidney and other organs. The onset of atypical HUS (aHUS) ranges from the neonatal period to adulthood. Genetic aHUS accounts for an estimated 60% of all aHUS. Individuals with genetic aHUS frequently experience relapse even after complete recovery following the presenting episode; 60% of genetic aHUS progresses to end-stage renal disease (ESRD).|GeneReviews|N|
C2752039|Hemolytic-uremic syndrome (HUS) is characterized by hemolytic anemia, thrombocytopenia, and renal failure caused by platelet thrombi in the microcirculation of the kidney and other organs. The onset of atypical HUS (aHUS) ranges from the neonatal period to adulthood. Genetic aHUS accounts for an estimated 60% of all aHUS. Individuals with genetic aHUS frequently experience relapse even after complete recovery following the presenting episode; 60% of genetic aHUS progresses to end-stage renal disease (ESRD).|GeneReviews|N|
C2752040|Hemolytic-uremic syndrome (HUS) is characterized by hemolytic anemia, thrombocytopenia, and renal failure caused by platelet thrombi in the microcirculation of the kidney and other organs. The onset of atypical HUS (aHUS) ranges from the neonatal period to adulthood. Genetic aHUS accounts for an estimated 60% of all aHUS. Individuals with genetic aHUS frequently experience relapse even after complete recovery following the presenting episode; 60% of genetic aHUS progresses to end-stage renal disease (ESRD).|GeneReviews|N|
C2752041|Three M syndrome is characterized by severe pre- and postnatal growth deficiency (final height 5-6 SD below the mean; i.e., 120-130 cm), characteristic facies, and normal intelligence. Additional features of three M syndrome include short broad neck, prominent trapezii, deformed sternum, short thorax, square shoulders, winged scapulae, hyperlordosis, short fifth fingers, prominent heels, and loose joints. Males with three M syndrome have hypogonadism and occasionally hypospadias.|GeneReviews|N|
C2752042|PIK3CA-related overgrowth spectrum (PROS) encompasses a range of clinical findings in which the core features are congenital or early-childhood onset of segmental/focal overgrowth with or without cellular dysplasia. Prior to the identification of PIK3CA as the causative gene, PROS was separated into distinct clinical syndromes based on the tissues and/or organs involved (e.g., MCAP [megalencephaly-capillary malformation] syndrome and CLOVES [congenital lipomatous asymmetric overgrowth of the trunk, lymphatic, capillary, venous, and combined-type vascular malformations, epidermal nevi, skeletal and spinal anomalies] syndrome). The predominant areas of overgrowth include the brain, limbs (including fingers and toes), trunk (including abdomen and chest), and face, all usually in an asymmetric distribution. Generalized brain overgrowth may be accompanied by secondary overgrowth of specific brain structures resulting in ventriculomegaly, a markedly thick corpus callosum, and cerebellar tonsillar ectopia with crowding of the posterior fossa. Vascular malformations may include capillary, venous, and less frequently, arterial or mixed (capillary-lymphatic-venous or arteriovenous) malformations. Lymphatic malformations may be in various locations (internal and/or external) and can cause various clinical issues, including swelling, pain, and occasionally localized bleeding secondary to trauma. Lipomatous overgrowth may occur ipsilateral or contralateral to a vascular malformation, if present. The degree of intellectual disability appears to be mostly related to the presence and severity of seizures, cortical dysplasia (e.g., polymicrogyria), and hydrocephalus. Many children have feeding difficulties that are often multifactorial in nature. Endocrine issues affect a small number of individuals and most commonly include hypoglycemia (largely hypoinsulinemic hypoketotic hypoglycemia), hypothyroidism, and growth hormone deficiency.|GeneReviews|N|
C2752047|A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of occipital atretic cephalocele associated with a specific facial dysmorphism (consisting of prominent forehead, narrow palpebral fissures, midface deficiency, narrow, malformed ears, broad nose and nasal root, grooved nasal tip and columella, laterally angulated, hypoplastic nares, short philtrum, thin upper lip, clift lip/palate, severe oligodontia, prominent chin) and large feet with sandal gap. Intellectual disability, developmental delay and hypoplastic finger and toenails have also been reported.|SNOMEDCT_US|N|
C2752048|An extremely rare, sporadic form of Orofaciodigital syndrome with only a few reported cases and characteristics of facial (blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures and low set ears) and skeletal (post-axial polydactyly and fusion of vertebrae) malformations along with severe intellectual disability, deafness and congenital heart defects.|SNOMEDCT_US|N|
C2752056|A benign polypoid lesion that arises from the nasopharynx. It usually affects neonates and older infants. It manifests as a pedunculated mass associated with cough, dyspnea, vomiting, or difficulty in swallowing. It is composed of ectoderm and mesoderm.|NCI|N|
C2752061|Cerebral palsy (CP) is defined as a nonprogressive but not unchanging disorder of posture or movement, caused by an abnormality of the brain and first evident at the stage of rapid brain development (Hughes and Newton, 1992). Cerebral palsy can be classified according to the type of movement disorder: spastic cerebral palsy accounts for approximately 60% of cases and can be subdivided into hemiplegic, diplegic, quadriplegic, and monoplegic types, whereas other forms include athetoid/dyskinetic, ataxic (605388), and mixed (Gustavson et al., 1969).
Genetic Heterogeneity of Spastic Quadriplegic Cerebral Palsy
See also CPSQ3 (617008), caused by mutation in the ADD3 gene (601568) on 10q24.
Related phenotypes that were formerly classified in the CPSQ series include spastic paraplegia-47 (SPG47; 614066), spastic paraplegia-50 (SPG50; 612936), spastic paraplegia-51 (SPG51; 613744), spastic paraplegia-52 (SPG52; 614067), and neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities (NEDSWMA; 619026).|OMIM|N|
C2752062|Any generalized epilepsy in which the cause of the disease is a mutation in the CASR gene.|MONDO|N|
C2752072|Dilated cardiomyopathy-1BB (CMD1BB) is a life-threatening, intractable disease characterized by ventricular dilation and thinning (Shiba et al., 2021).
For a phenotypic description and a discussion of genetic heterogeneity of dilated cardiomyopathy, see CMD1A (115200).|OMIM|N|
C2752073|Complete deficiency of erythrocyte AMP deaminase is a clinically benign disorder (Ogasawara et al., 1987; Zydowo et al., 1989).|OMIM|N|
C2752074|Oxoglutarate dehydrogenase deficiency (OGDHD) is an autosomal recessive disorder associated with features of infantile- and pediatric-onset basal ganglia-associated movement disorders, hypotonia, developmental delays, ataxia, and seizures (summary by Yap et al., 2021).|OMIM|N|
C2752081|Alpha-2-plasmin inhibitor deficiency is a rare autosomal recessive hemorrhagic diathesis. Most bleeds are severe, appear during childhood, and, in a few cases, umbilical bleeding is the first manifestation. Some homozygous patients present only moderate bleeding (Favier et al., 2001).|OMIM|N|
C2752089|Hereditary sensory and autonomic neuropathy type II (HSAN2) is characterized by progressively reduced sensation to pain, temperature, and touch. Onset can be at birth and is often before puberty. The sensory deficit is predominantly distal with the lower limbs more severely affected than the upper limbs. Over time sensory function becomes severely reduced. Unnoticed injuries and neuropathic skin promote ulcerations and infections that result in spontaneous amputation of digits or the need for surgical amputation. Osteomyelitis is common. Painless fractures can complicate the disease. Autonomic disturbances are variable and can include hyperhidrosis, tonic pupils, and urinary incontinence in those with more advanced disease.|GeneReviews|N|
C2752090|Female pelvic floor disorders, including pelvic organ prolapse (POP), urinary incontinence, and stress urinary incontinence, affect over one-third of adult women (Bump and Norton, 1998). These disorders are characterized by weakening of the tissues supporting and anchoring the pelvic organs, which can affect both structure and function of the vagina, uterus, bladder, anus, and intestines.|OMIM|N|
C2752147|Xeroderma pigmentosum (XP) is characterized by: Acute sun sensitivity (severe sunburn with blistering, persistent erythema on minimal sun exposure) with marked freckle-like pigmentation of the face before age two years; Sunlight-induced ocular involvement (photophobia, severe keratitis, atrophy of the skin of the lids, ocular surface neoplasms); Greatly increased risk of sunlight-induced cutaneous neoplasms (basal cell carcinoma, squamous cell carcinoma, melanoma) within the first decade of life. Approximately 25% of affected individuals have neurologic manifestations (acquired microcephaly, diminished or absent deep tendon stretch reflexes, progressive sensorineural hearing loss, progressive cognitive impairment, and ataxia). The most common causes of death are skin cancer, neurologic degeneration, and internal cancer. The median age at death in persons with XP with neurodegeneration (29 years) was found to be younger than that in persons with XP without neurodegeneration (37 years).|GeneReviews|N|
C2752149|Sex reversal in an individual associated with a 9p24.3 deletion.|NCI|N|
C2752157|Malpositioning, or ectopic placement, of teeth is believed to result from a disturbance of the tooth developmental structure. Various forms of the disorder tend to be associated with one another and with hypodontia. It is important to recognize any associations of tooth anomalies as early diagnosis of developmental disturbance in a single tooth may reveal a potential risk of future position or eruption disturbances of other teeth and thus allow early intervention (Bjerklin et al., 1992).|OMIM|N|
C2752275|The series of molecular signals initiated by binding of a ligand to any of the peroxisome proliferator activated receptors (alpha, beta or gamma) in the nuclear membrane, and ending with the initiation or termination of the transcription of target genes. [GOC:BHF, PMID:18221086]|GO|N|
C2754092|The process of removing one or more methyl groups from a molecule, involving the oxidation (i.e. electron loss) of one or more atoms in the substrate. [GOC:BHF, GOC:mah, GOC:rl]|GO|N|
C2825032|A social or emotional detachment, pathological retreat from objective reality, interpersonal contact and social involvement, as in some forms of schizophrenia, depression, or schizoid, avoidant, or schizotypal personality disorders.|NCI|N|
C2825055|The return of a sign, symptom, or disease after a remission.|MSH|N|
C2825114|An acute myeloid leukemia with inv(16)(p13.1q22) occurring in adults.|NCI|N|
C2825116|A term referring to acute myeloid leukemias with rearrangement of the MLL gene which results in translocations with various genes other than the MLLT3 (AF9) gene.|NCI|N|
C2825128|A term referring to acute myeloid leukemias which show variant translocations involving the RARA gene. The variant fusion partners include NUMA1, ZBTB16, STAT5B, and NPM1. These leukemias often have the morphologic features of acute promyelocytic leukemia.|NCI|N|
C2825129|Acute myeloid leukemia with the variant RARA t(11;17)(q23;q21) and the expression of PLZF-RARA fusion protein. It lacks differentiation response to retinoids treatment.|NCI|N|
C2825131|Acute myeloid leukemia with the variant RARA t(11;17)(q13;q21) and the expression of NUMA1-RARA fusion protein.|NCI|N|
C2825139|An acute myeloid leukemia with at least 20% blasts in the bone marrow or blood, and either a previous history of myelodysplastic syndrome, multilineage dysplasia or myelodysplastic syndrome-related cytogenetic abnormalities. There is no history of prior cytotoxic therapy for an unrelated disorder, and there is absence of the cytogenetic abnormalities that are present in acute myeloid leukemia with recurrent genetic abnormalities.|NCI|N|
C2825141|An interpretation of results of an experiment.|NCI|N|
C2825142|The outcome of an experiment or set of experiments, including observations and primary, processed, and analyzed data.|NCI|N|
C2825149|Acute myeloid leukemia or myelodysplastic syndrome occurring in children with Down syndrome. The acute myeloid leukemia is usually an acute megakaryoblastic leukemia, and is associated with GATA1 gene mutation.|NCI|N|
C2825158|Long-standing and persistent renal disease without kidney damage.|NCI|N|
C2825161|A first-degree relative (parent, sibling, child) documented to have died suddenly of presumed cardiac etiology without other obvious cause.|NCI|N|
C2825179|The number of coronary arteries that have at least 70% luminal obstruction.|NCI|N|
C2825180|A narrowing of the proximal portion of the left main coronary artery, usually considered significant if the stenosis is 70% or greater.|NCI|N|
C2825208|The coronary lesions treated during a PCI (Percutaneous Coronary Intervention) procedure.|NCI|N|
C2825209|The connection where the graft joins the coronary artery, usually less than or equal to 3 mm from insertion point.|NCI|N|
C2825210|Clinical diagnosis of heart failure during a hospitalization, of which heart failure was not the admitting diagnosis.|NCI|N|
C2825211|Clinical diagnosis of stroke during a hospitalization, of which stroke was not the admitting diagnosis.|NCI|N|
C2825212|Clinical diagnosis of angina during a hospitalization, of which angina was not the admitting diagnosis.|NCI|N|
C2825213|Clinical diagnosis of a repeated infarction of an organ during a hospitalization.|NCI|N|
C2825214|The description of an event that occurred in an individual during the hospitalization period.|NCI|N|
C2825221|The percentage of narrowing of the left main coronary artery.|NCI|N|
C2825222|The percentage narrowing of the proximal portion of the left main coronary artery.|NCI|N|
C2825223|Percent of the myocardial tissue estimated to exhibit characteristics of inadequate blood flow (ischemia). This is usually determined using a functional study (e.g. MRI, SPECT or PET).|NCI|N|
C2825306|A leukemia arising as a result of the mutagenic effect of chemotherapy agents that are used for the treatment of a malignant tumor or exposure to ionizing radiation.|NCI|N|
C2825409|An immunophenotypic test result indicating positive staining of neoplastic cells for synaptophysin.|NCI|N|
C2825493|Visibly abnormal tissue on a magnetic resonance image (MRI) or computed tomography (CT) that does not enhance with contrast and is not edema.|NCI|N|
C2825497|Primitive reflex actions that newborns display in response to specific stimuli. These reflexes are involuntary and most disappear as the infant matures.|NCI|N|
C2825500|A neoplastic, inflammatory, or vascular process in the roof of the skull.|NCI|N|
C2825502|Edema that is characterized by increased permeability of capillary endothelial cells.|NCI|N|
C2825536|The development of a problematic medical situation that occurs concurrently with the birth of a neonate.|NCI|N|
C2825540|A measurement from the high prominence of the head to the low prominence of the buttocks of a fetus or embryo during ultrasound. This measurement is useful in determining gestational age.|NCI|N|
C2825541|The historical fact that a legal or consanguineous brother or sister has died.|NCI|N|
C2825543|The best estimated due date is determined by: last menstrual period (LMP) if confirmed by early ultrasound or no ultrasound performed, or early ultrasound if no known LMP or the ultrasound is not consistent with LMP, or known date of fertilization (e.g. Assisted Reproductive Technology (ART), Intrauterine Insemination (IUI)). Notes: 1. Ultrasound margin of error and ""early"" to be defined by SMFM/ACOG/NICHD workshop. 2. Pregnancy should not be re-dated by a later ultrasound after a best obstetrical estimate of EDD has been established. (adapted from reVITALize)|NCI|N|
C2825560|A disorder characterized by the body''s inability to synthesize beta-globin chains, leading to the formation of abnormal hemoglobin and anemia. This inherited autosomal recessive blood disorder is caused by germline mutation of the HBB gene.|NCI|N|
C2825562|A neonate that is unwell.|NCI|N|
C2825569|A component of the Apgar score, it is the numerical value assigned to the assessment of breathing effort by a neonate. 0 = no spontaneous respirations; 1 = slow or irregular respirations or a weak cry; 2 = strong, consistent respirations with a robust cry.|NCI|N|
C2825571|A component of the Apgar score, it is the numerical value assigned to an assessment of the circulatory status of a neonate. 0 = no pulse; 1 = rate less than 100 beats per minute; 2 = rate greater than 100 beats per minute.|NCI|N|
C2825573|A component of the Apgar score, it is the numerical value assigned to an assessment of the residual muscle tension of a neonate. 0 = flaccid; 1 = flexion of extremities; 2 = active motion.|NCI|N|
C2825576|A component of the Apgar score, it is the numerical value assigned to the neonate''s response to stimuli, such as a mild pinch. 0 = no reaction; 1 = grimace; 2 = grimace with a cough, sneeze, or vigorous cry.|NCI|N|
C2825577|A component of the Apgar score, it is the numerical value assigned to an assessment of the color of the skin of a neonate. 0 = pale blue; 1 = pink body and pale blue extremities; 2 = pink body and extremities.|NCI|N|
C2825578|A disorder characterized by the body''s inability to metabolize galactose. This type of galactosemia is caused by germline mutations in the GALT gene which leads to the inhibition in the activity of the enzyme galactose-1-phosphate uridyl transferase.|NCI|N|
C2825737|A laboratory test result indicating the presence of an increased level of the tumor-associated antigen (TAA) CA15-3 in a blood or serum sample.|NCI|N|
C2825738|A laboratory test result indicating that cells expressing HLA-C*07:02 were detected in a sample.|NCI|N|
C2825739|A very rare dendritic cell tumor affecting the lymph nodes, spleen, and soft tissues. Morphologically it is similar to the interdigitating dendritic cell sarcoma or follicular dendritic cell sarcoma. The tumor cells are positive for cytokeratin and CD68. Clinical outcome is variable.|NCI|N|
C2825741|A rare neoplastic disease characterized by multiple, and on occasion single, asymptomatic, smooth, red-brown papulonodules located on the face, neck, trunk and/or extremities which present a nonepidermotrophic histiocytic infiltrate with immunohistochemical features of both Langerhans and non-Langerhans cells (i.e. immunopositive for S100 protein and CD1a in the absence of Birbeck granules and langerin expression).|ORDO|N|
C2825742|Juvenile xanthogranuloma disseminated to extracutaneous sites including mucosal surfaces, lung, central nervous system, pituitary, lymph nodes, eye, liver, and bone marrow. It is characterized by the presence of lipid-laden, foamy histiocytes and Touton-type giant cells forming nodules in the affected anatomic sites.|NCI|N|
C2825772|An epithelioid cell type gastrointestinal stromal tumor with an indolent clinical course.|NCI|N|
C2825773|An epithelioid cell type gastrointestinal stromal tumor with an aggressive clinical course.|NCI|N|
C2825784|A molecular interaction in which a small molecule or structure becomes trapped, usually in a larger molecule or structure, due to non-covalent interactions.|NCI|N|
C2825843|A molecular genetic abnormality that refers to the presence of a mutation in the ALK gene.|NCI|N|
C2825844|Expression of fusion protein transcripts resulting from genetic alterations of the anaplastic lymphoma kinase (ALK) gene.|NCI|N|
C2825931|Recession of the gum that exposes the furcation of a multirooted tooth.|NCI|N|
C2825972|Any abnormal inclincation of the occlusal plane.|NCI|N|
C2826025|A group of rare acute leukemias of ambiguous lineage characterized by the presence of separate populations of blasts of more than one lineage (bilineal), a single population of blasts coexpressing antigens of more than one lineage (biphenotypic), or a combination thereof. The diagnosis relies on immunophenotyping, the T-cell component being characterized by strong expression of cytoplasmic CD3, usually in the absence of surface CD3, the B-cell component expressing CD19, almost always together with CD10, cCD79a, CD22, or PAX5, while the most specific hallmark of the myeloid component is the presence of myeloperoxidase in the blast cytoplasm.|ORDO|N|
C2826037|A rare mixed phenotype acute leukemia in which the blasts also carry the translocation t(9;22)(q34.1;q11.2) by karyotypic analysis or the BCR-ABL1 translocation by FISH or PCR. The prognosis is usually unfavorable.|NCI|N|
C2826048|A rare mixed phenotype acute leukemia in which the blasts carry a translocation between the MLL (KMT2A) gene at 11q23.3 and another gene partner. The prognosis is usually unfavorable.|NCI|N|
C2826055|A rare mixed phenotype acute leukemia in which the blasts express T-lymphoid and myeloid lineage markers but are negative for MLL translocation and t(9;22)(q34;q11.2) translocation. The prognosis is usually unfavorable.|NCI|N|
C2826059|A precursor lymphoid neoplasm that expresses CD56 and immature T-cell markers, lacks B-lymphoid and myeloid markers, and has immunoglobulin and T-cell receptor genes in the germline configuration.|NCI|N|
C2826104|Myeloid neoplasms occurring in individuals with Down syndrome. There is an increased risk of acute leukemias in both children and adults with Down syndrome. In particular, the incidence of acute myeloid leukemia in Down syndrome children of less than five years of age is particularly high, it is usually an acute megakaryoblastic leukemia, and is associated with GATA1 gene mutation. This group of disorders also includes the entity transient abnormal myelopoiesis which occurs in neonates and is associated with GATA1 gene mutation.|NCI|N|
C2826105|A change in the nucleotide sequence of the GATA1 gene.|NCI|N|
C2826127|A molecular abnormality indicating rearrangement of the ERG gene.|NCI|N|
C2826148|A myelodysplastic/myeloproliferative neoplasm arising as a result of the mutagenic effect of chemotherapy agents and/or radiation that are used for the treatment of neoplastic or non-neoplastic disorders.|NCI|N|
C2826169|An acute myeloid leukemia associated with t(6;9)(p23;q34.1) resulting in DEK-NUP214(CAN) fusion protein expression. It is often associated with multilineage dysplasia and basophilia. It affects both children and adults and it usually has an unfavorable clinical outcome.|NCI|N|
C2826172|A subtype of acute myeloid leukaemia with recurrent genetic abnormalities characterised by clonal proliferation of myeloid blasts in the bone marrow, blood and rarely other tissues. Bone marrow typically shows small hypo-lobated megakaryocytes and multilineage dysplasia. Patients typically present with leukocytosis, anaemia, and variable platelet counts and a variety of nonspecific symptoms related to ineffective haematopoesis (fatigue, bleeding, bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly). High resistance to conventional chemotherapy is reported.|SNOMEDCT_US|N|
C2826173|An acute myeloid leukemia associated with t(1;22)(p13.3;q13.1) resulting in the expression of RBM15-MKL1 fusion protein. It affects infants and children and usually shows megakaryocytic maturation.|NCI|N|
C2826175|Mutation of the nucleophosmin gene. It is seen in acute myeloid leukemias usually associated with a normal karyotype.|NCI|N|
C2826176|A term referring to acute myeloid leukemias associated with gene mutations most often of the FLT3, NPM1, and CEBPA genes. These leukemias may have normal karyotypes or additional chromosomal aberrations.|NCI|N|
C2826177|An acute myeloid leukemia with mutation of the nucleophosmin gene. It is usually associated with normal karyotype and frequently has myelomonocytic or monocytic features. It usually responds to induction therapy.|NCI|N|
C2826208|Death that is attributed to the progression of a disease or pre-existing condition, and which is not attributable to any outside action or force.|NCI|N|
C2826210|An indication that a patient is free of symptoms, with no lasting health problems.|NCI|N|
C2826233|An indication or description of whether the adverse event caused the subject to discontinue from the study.|NCI|N|
C2826244|A situation that imperils the existence of an entity.|NCI|N|
C2826279|A decision that an observation or result is outside the parameters considered normal.|NCI|N|
C2826280|An indication or description that an event occurs concurrently with a substance overdose.|NCI|N|
C2826281|An indication or description that a specific activity resulted in the death of a subject.|NCI|N|
C2826292|An indication or description that a relationship to cancer exists.|NCI|N|
C2826293|A finding that has treatment or management implications for a patient''s condition.|NCI|N|
C2826294|An indication or description of a correlation between death and another event.|NCI|N|
C2826295|An indication or description of the correlation between a finding or event of interest and a treatment outside the specifications of a study.|NCI|N|
C2826318|Refractory cytopenias with unilineage dysplasia (RCUD) is a frequent low-risk subtype of myelodysplastic syndrome (MDS; see this term) characterized by refractory cytopenias associated with dysplasia limited to one cell lineage.|ORDO|N|
C2826320|A myelodysplastic syndrome characterized by the presence of at least 10% dysplastic neutrophils in the bone marrow or the peripheral blood.|NCI|N|
C2826321|A myelodysplastic syndrome characterized by the presence of at least 10% dysplastic megakaryocytes, found within at least 30 megakaryocytes examined in the bone marrow.|NCI|N|
C2826322|Myelodysplastic syndrome with excess blasts associated with significant reticulin fibrosis of the bone marrow.|NCI|N|
C2826323|The most common subtype of the myelodysplastic syndromes affecting children. It is characterized by persistent cytopenia with less than 5% blasts in the bone marrow and less than 2% blasts in the peripheral blood.|NCI|N|
C2826327|Mutation of the protein tyrosine phosphatase, non-receptor type 11 gene. It is seen in cases of juvenile myelomonocytic leukemia.|NCI|N|
C2826330|A myelodysplastic/myeloproliferative neoplasm with morphologic and clinical characteristics of refractory anemia with ring sideroblasts, marked thrombocytosis, and abnormal megakaryocytes.|NCI|N|
C2826543|A benign melanocytic nevus surrounded by eczematous changes.|NCI|N|
C2826557|A chronic fibrotic inflammatory process affecting the salivary gland. Signs and symptoms include firm and painful swelling of the salivary gland, often associated with the presence of salivary gland stones.|NCI|N|
C2826558|An oncocytoma with cystic degenerative changes.|NCI|N|
C2826559|A premalignant neoplastic lesion of the liver. It is characterized by the presence of hepatocytes with enlarged nuclei and cytoplasm, nuclear pleomorphism, multinucleation, and hyperchromasia.|NCI|N|
C2826565|A chronic inflammatory process characterized by the accumulation of a small number of lymphocytes and plasma cells.|NCI|N|
C2826574|A morphologic finding indicating the presence of abnormally large nucleated erythroblasts in the bone marrow.|NCI|N|
C2826575|A morphologic finding indicating lack of synchronous maturation of the cytoplasm and the nucleus.|NCI|N|
C2826576|Cellular damage due to diminished oxygen supply to the tissues. The changes may be mild and associated with chronic inflammation, or severe and associated with ulceration, necrosis, and hemorrhage.|NCI|N|
C2826579|Irregular folding of the glomerular basement membrane with an intact lamina densa.|HPO|N|
C2826581|A morphologic finding indicating the presence of nuclear or cytoplasmic viral inclusion bodies.|NCI|N|
C2826588|Chronic colitis with superimposed neutrophilic mucosal infiltrates. It is usually seen during exacerbations of inflammatory bowel disease.|NCI|N|
C2826596|A finding indicating shrinkage of the tissue volume of the vascular structures.|NCI|N|
C2826597|A morphologic finding indicating the presence of neutrophils with five or more nuclear lobes. It is seen in macrocytic anemias caused by B12 or folic acid deficiency.|NCI|N|
C2826598|A morphologic finding indicating focal damage or loss of the podocytes in the renal tissue.|NCI|N|
C2826599|Localized widening of the lumen of the mammary ducts.|NCI|N|
C2826600|A finding indicating the presence of increased blood volume in the vascular lumen.|NCI|N|
C2826601|An extraskeletal osteosarcoma affecting the duodenum.|NCI|N|
C2826602|A tumor located underneath the adrenal capsule.|NCI|N|
C2826603|A morphologic and histochemical finding indicating depletion of mucin in the glands.|NCI|N|
C2826604|A morphologic finding indicating the presence of eosinophils within the mucosa.|NCI|N|
C2826606|Collection of fungal organisms in an anatomic site or medical device.|NCI|N|
C2826607|A cyst originating from the primitive foregut. It may arise from the upper aerodigestive tract, tracheobronchial tree, liver, and pancreas.|NCI|N|
C2826608|Architectural distortion of the tissue structure of a gland.|NCI|N|
C2826609|A morphologic finding indicating alteration of the shape/pattern of tissue components.|NCI|N|
C2826612|A morphologic finding indicating the partial or complete loss of a gland structure.|NCI|N|
C2826613|A term referring to cases of small lymphocytic lymphomas with an increased number of paraimmunoblasts or with signet-ring-like lymphocytes.|NCI|N|
C2826614|A morphologic finding indicating epithelial regrowth following injury.|NCI|N|
C2826615|An architectural morphologic finding indicating branching of glands as a result of a pathologic process.|NCI|N|
C2826616|Signs of chronic liver disease which include jaundice, ascites, palmar erythema, spider hemangiomas, gynecomastia, and encephalopathy.|NCI|N|
C2826617|A morphologic finding indicating the presence of a small population of cells in a tissue sample.|NCI|N|
C2826623|A morphologic finding indicating the presence of bony trabeculae rimmed with osteoblasts.|NCI|N|
C2826624|An abnormal outgrowth.|NCI|N|
C2826636|An indication or description of any abnormal findings as a result of a physical examination.|NCI|N|
C2826663|An indication or description that an adverse event is continuing.|NCI|N|
C2826664|An indication or description that an adverse event is associated with or prolongs hospitalization.|NCI|N|
C2826665|An indication or description of an adverse event associated with a critical medical event.|NCI|N|
C2826666|An indication or description that the concomitant medication usage is ongoing.|NCI|N|
C2826667|An indication or description that a particular concomitant medication was taken in the past.|NCI|N|
C2826668|An indication of whether concomitant medication usage has occurred.|NCI|N|
C2826669|An indication or description that the subject will be continuing on to next phase of the trial.|NCI|N|
C2826670|An indication or description that the trial site has been unblinded in a blinded clinical trial.|NCI|N|
C2826671|An indication of whether protocol deviation has occurred.|NCI|N|
C2826672|An indication or description that an electrocardiogram assessment has occurred.|NCI|N|
C2826673|An indication or description that an exposure dosage was adjusted.|NCI|N|
C2826674|An indication or description that the course of study treatment has been carried out in full.|NCI|N|
C2826675|An indication of whether inclusion or exclusion criteria has been met.|NCI|N|
C2826676|An indication or description that the laboratory testing conditions laid out in the study protocol have been met.|NCI|N|
C2826677|An indication or description that a laboratory test has been performed.|NCI|N|
C2826678|An indication or description that an event or occurrence in an individual''s medical history is being managed.|NCI|N|
C2826679|An indication or description that a medical history has been taken.|NCI|N|
C2826680|An indication or description that an event or occurrence in an individual''s medical history is continuing.|NCI|N|
C2826681|An indication of whether a physical exam has been performed.|NCI|N|
C2826718|The outcome of the vital signs assessment.|NCI|N|
C2826727|An indication or description that the seriousness of an adverse event was due to a congenital abnormality.|NCI|N|
C2826729|The result of an evaluation of the body and its functions using visual inspection, palpation, percussion, or auscultation that is performed to determine the presence, absence, or degree of a condition.|NCI|N|
C2826780|A morphologic finding indicating the presence of cells with glycogen-rich cytoplasm.|NCI|N|
C2826781|A pleomorphic adenoma with increased cellularity.|NCI|N|
C2826783|Polyps that arises from the colon or rectum. They are characterized by the presence of serrated glands and the absence of generalized dysplasia.|NCI|N|
C2826784|An immunophenotypic finding indicating positive membranous reactivity to a specific antibody.|NCI|N|
C2826801|An indication or description of the relationship of an adverse event to a non-study treatment.|NCI|N|
C2826802|An indication or description that an adverse event includes cancer.|NCI|N|
C2826805|An indication or description that an adverse event occurred with an overdose.|NCI|N|
C2826820|An indication or description regarding the use of a concomitant medication.|NCI|N|
C2826913|A laboratory test designed to quantify or qualify the poisonous nature of a sample.|NCI|N|
C2826940|The site of a physical examination.|NCI|N|
C2827013|An indication or description regarding an episode of substance usage.|NCI|N|
C2827059|A finding indicating the presence of protrusions or extensions in the basement membrane of the glomeruli.|NCI|N|
C2827060|The distal end of a polyp.|NCI|N|
C2827066|A non-metastasizing tumor located underneath the adrenal capsule.|NCI|N|
C2827067|A metastasizing tumor located underneath the adrenal capsule.|NCI|N|
C2827068|A finding resulting from the examination of a tissue sample under light or electron microscopy.|NCI|N|
C2827071|Accidental inhalation of a foreign material into the lungs.|NCI|N|
C2827253|Duplication of the T gene which plays an important role in notochord development. This genetic abnormality is implicated in the pathogenesis of familial chordoma.|NCI|N|
C2827310|Mutation of the fibroblast growth factor receptor 4 gene which is located on the long arm of chromosome 5. It has been described in patients with childhood rhabdomyosarcoma. Overexpression of this gene in these patients is associated with advanced stage disease and poor survival.|NCI|N|
C2827348|Mutation of the Janus 2 kinase gene at chromosome 9. It is seen in most patients with polycythemia vera and less frequently in other myeloproliferative neoplasms.|NCI|N|
C2827349|A benign mesenchymoma arising from the kidney.|NCI|N|
C2827356|A group of rare myeloid and lymphoid neoplasms characterized by rearrangement of the PDGFRA, PDGFRB, or FGFR1 genes, resulting in the formation of fusion transcripts and aberrant tyrosine kinase activity. Eosinophilia is a characteristic finding but it is not always present. This group includes the myeloid and lymphoid neoplasms with t(8;9)(p22;p24.1);PCM1-JAK2 as a provisional entity.|NCI|N|
C2827357|Rearrangement of the PDGFRB gene, resulting in the formation of a fusion transcript and aberrant tyrosine kinase activity. It has been described in myeloid malignancies usually presenting as chronic myelomonocytic leukemia.|NCI|N|
C2827358|Rearrangement of the FGFR1 gene resulting in translocations with an 8p11 breakpoint. It has been described in hematologic malignancies presenting as myeloproliferative neoplasms or acute leukemias.|NCI|N|
C2827360|Hematologic neoplasms characterized by the rearrangement of the PDGFRA gene, most often resulting in the formation of FIP1L1-PDGFRA fusion transcripts. Patients usually present with chronic eosinophilic leukemia, and less often with acute myeloid leukemia or T-lymphoblastic leukemia.|NCI|N|
C2827366|A chromosomal abnormality consisting of the presence of a third copy of chromosome 19 in somatic cells.|NCI|N|
C2827392|A laboratory test result indicating the presence of an increased level of CA19-9 in the serum.|NCI|N|
C2827403|An astroblastoma, MN1-altered, characterized by the presence of high mitotic activity, cytologic atypia, and architectural distortion.|NCI|N|
C2827407|Inflammation of the anatomical structures of the middle ear secondary to an infectious process. Bacterial etiology is most common, but both viral and fungal pathogens are also possible. Symptoms include erythema and edema of the tympanic membrane, pain, and possibly fever. In severe infections, inflammation and edema of the structures of the middle ear can lead to perforation of the tympanic membrane secondary to the buildup of pressure in the narrow space.|NCI|N|
C2827408|An epithelioma characterized by the absence of keratin production.|NCI|N|
C2827409|A benign neoplasm arising from the yolk sac.|NCI|N|
C2827410|A non-neoplastic or neoplastic pathologic process affecting the leptomeninges of the brain.|NCI|N|
C2827411|A non-neoplastic or neoplastic pathologic process affecting the leptomeninges of the spinal cord.|NCI|N|
C2827412|The presence of brain metastasis that originates from a cancer growth in a distant anatomic site.|NCI|N|
C2827429|A symptom describing the inability to comprehend more than one element of a visual picture at a given moment, or to integrate the whole visual picture.|NCI|N|
C2827431|Reappearance of cholestasis caused by obstruction within the liver.|NCI|N|
C2827432|A congenital or acquired defect in the bile acid biosynthesis, resulting in progressive liver disease.|NCI|N|
C2827436|A spectrum of liver disorders that develop in patients with cystic fibrosis. It includes asymptomatic elevation of the liver function tests, steatosis, cholecystitis with cholelithiasis, sclerosing cholangitis, biliary cirrhosis, and cholangiocarcinoma.|NCI|N|
C2827443|Failure to perform hemodialysis due to blockage of the artery-vein grafts which provide the requisite vascular access.|NCI|N|
C2827448|Diabetes mellitus that develops during childhood.|NCI|N|
C2827454|A kidney disorder that appears during childhood.|NCI|N|
C2827460|Failure to achieve vascular access due to damage of the graft that was created for this purpose.|NCI|N|
C2827467|A disorder affecting the lungs due to asbestos exposure. Examples include asbestosis and lung carcinoma.|NCI|N|
C2827468|A congenital condition referring to defects of the course and structure of the coronary arteries.|NCI|N|
C2827493|Autosomal aneuploidy not associated with trisomy. It results in developmental malformations.|NCI|N|
C2827494|A very rare metabolic disorder characterized by an inborn error in the leucine degradation pathway. Patients excrete large amounts of beta-methyl-crotonylglycine in the urine.|NCI|N|
C2827503|A hereditary disorder of iron metabolism caused by mutations in the HFE gene. It is characterized by increased absorption of iron in the gastrointestinal mucosa. It results in abnormal iron accumulation in the liver, pancreas, skin, joints, heart, and testes. It may lead to skin pigmentation, liver failure, heart failure, and hypogonadism.|NCI|N|
C2827569|A morphologic finding indicating the presence of dysplasia in the bronchial squamous epithelium. It is precursor of lung squamous cell carcinoma.|NCI|N|
C2827583|A rare syndrome characterized by deficiency of specific antibodies to polysaccharide antigens while the specific antibodies to protein antigens are normal.|NCI|N|
C2827598|Rare syndromes caused by chromosomal defects and characterized by the presence of multiple X chromosomes and one Y chromosome. Signs and symptoms include short stature, mental retardation, hypogonadism, undescended testes, gynecomastia, and hypotonia.|NCI|N|
C2827732|An indication of whether a medical history has been taken.|NCI|N|
C2827734|A finding of 1-9 bacilli per 10 250x fields.|NCI|N|
C2827735|A finding of 1-9 bacilli per 250x field.|NCI|N|
C2827736|A finding of 10-90 bacilli per 250x field.|NCI|N|
C2827737|A finding of greater than 90 bacilli per 250x field.|NCI|N|
C2827980|Stage IA includes: T1, N0, M0. T1: Tumor 20 mm or less in greatest dimension. T1 includes T1mi. T1mi: Tumor 1 mm or less in greatest dimension. N0: No regional lymph node metastasis. M0: No clinical or radiographic evidence of distant metastasis. M0 includes M0(i+). (AJCC 7th Ed.)|NCI|N|
C2827981|Stage IB includes: (T0, N1mi, M0); (T1, N1mi, M0). T0: No evidence of primary tumor. T1: Tumor 20 mm or less in greatest dimension. T1 includes T1mi. T1mi: Tumor 1 mm or less in greatest dimension. N1mi: Nodal micrometastases. M0: No clinical or radiographic evidence of distant metastasis. M0 includes M0(i+). (AJCC 7th Ed.)|NCI|N|
C2828000|An inherited disorder affecting mostly males. It results from defective genes that are present on the X chromosome.|NCI|N|
C2828010|Stage 0 includes: Tis, N0, M0. Tis: In situ primary tumor. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C2828011|Stage IA includes: T1, pN0, M0. T1: Primary tumor equal or less than 2 cm in size. pN0: No regional lymph node metastasis by pathologic examination. M0: No distant metastasis. (AJCC 7th Ed.)|NCI|N|
C2828012|Stage IB includes: T1, cN0, M0. T1: Primary tumor equal or less than 2 cm in size. cN0: No regional lymph node metastasis by clinical examination. M0: No distant metastasis. (AJCC 7th Ed.)|NCI|N|
C2828013|Stage IIA includes: T2/T3, pN0, M0. T2: Primary tumor greater than 2 cm but not more than 5 cm in maximum dimension. T3: Primary tumor over 5 cm in maximum dimension. pN0: No regional lymph node metastasis by pathologic examination. M0: No distant metastasis. (AJCC 7th Ed.)|NCI|N|
C2828014|Stage IIB includes: T2/T3, cN0, M0. T2: Primary tumor greater than 2 cm but not more than 5 cm in maximum dimension. T3: Primary tumor over 5 cm in maximum dimension. cN0: No regional lymph node metastasis by clinical examination. M0: No distant metastasis. (AJCC 7th Ed.)|NCI|N|
C2828015|Stage IIC includes: T4, N0, M0. T4: Primary tumor invades bone, muscle, fascia, or cartilage. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 7th Ed.)|NCI|N|
C2828016|Stage IIIA includes: Any T, N1a, M0. N1a: Micrometastasis in regional lymph nodes. M0: No distant metastasis. (AJCC 7th Ed.)|NCI|N|
C2828017|Stage IIIB includes: Any T, N1b/N2, M0. N1b: Macrometastasis in regional lymph nodes. N2: In transit metastasis. M0: No distant metastasis. (AJCC 7th Ed.)|NCI|N|
C2828018|Stage IV includes: Any T, Any N, M1. M1: Metastasis beyond regional lymph nodes. (AJCC 7th Ed.)|NCI|N|
C2828028|Stage IA includes: T1a, N0, M0. T1a: Cutaneous melanoma with a tumor measuring 1.0 mm or less in thickness, without ulceration and with mitosis less than 1/mm2. N0: No regional lymph node metastases. M0: No detectable evidence of distant metastases. (from AJCC 7th Ed.)|NCI|N|
C2828030|Stage IB includes: (T1b, N0, M0); (T2a, N0, M0). T1b: Cutaneous melanoma with a tumor measuring 1.0 mm or less in thickness, with ulceration or mitoses equal or more than 1/mm2. T2a: Cutaneous melanoma with a tumor measuring 1.01-2.0 mm in thickness, without ulceration. N0: No regional lymph node metastases. M0: No detectable evidence of distant metastases. (from AJCC 7th Ed.)|NCI|N|
C2828031|Stage IIA includes: (T2b, N0, M0); (T3a, N0, M0). T2b: Cutaneous melanoma with a tumor measuring 1.01-2.0 mm in thickness, with ulceration. T3a: Cutaneous melanoma with a tumor measuring 2.01-4.0 mm in thickness, without ulceration. N0: No regional lymph node metastases. M0: No detectable evidence of distant metastases. (from AJCC 6th and 7th Eds.)|NCI|N|
C2828032|Stage IIC includes: T4b, N0, M0. T4b: Cutaneous melanoma with a tumor measuring more than 4.0 mm in thickness, with ulceration. N0: No regional lymph node metastases. M0: No detectable evidence of distant metastases. (from AJCC 6th and 7th Eds.)|NCI|N|
C2828034|Stage IIIA includes: (T1-4a, N1a, M0); (T1-4a, N2a, M0). T1-4a: Non-ulcerated cutaneous melanoma of any thickness. N1a: Cutaneous melanoma with micrometastasis in one regional lymph node. N2a: Cutaneous melanoma with micrometastases in 2-3 regional lymph nodes. M0: No detectable evidence of distant metastases. (from AJCC 7th Ed.)|NCI|N|
C2828035|Stage IIIB includes: (T1-4b, N1a, M0); (T1-4b, N2a, M0); (T1-4a, N1b, M0); (T1-4a, N2b, M0); (T1-4a, N2c, M0). T1-4b: Ulcerated cutaneous melanoma of any thickness. T1-4a: Non-ulcerated cutaneous melanoma of any thickness. N1a: Cutaneous melanoma with micrometastasis in one regional lymph node. N2a: Cutaneous melanoma with micrometastases in 2-3 regional lymph nodes. N1b: Cutaneous melanoma with macrometastasis in one regional lymph node. N2b: Cutaneous melanoma with macrometastases in 2-3 regional lymph nodes. N2c: Cutaneous melanoma with intralymphatic metastases (in transit or satellite metastases) without metastatic nodes. M0: No detectable evidence of distant metastases. (from AJCC 7th Ed.)|NCI|N|
C2828036|Stage IIIC includes: (T1-4b, N1b, M0); (T1-4b, N2b, M0); (T1-4b, N2c, M0); (Any T, N3, M0). T1-4b: Ulcerated cutaneous melanoma of any thickness. N1b: Cutaneous melanoma with macrometastasis in one regional lymph node. N2b: Cutaneous melanoma with macrometastases in 2-3 regional lymph nodes. N2c: Cutaneous melanoma with intralymphatic metastases (in transit or satellite metastases) without metastatic nodes. N3: Cutaneous melanoma with 4 or more metastatic nodes, or matted nodes, or in transit met(s)/satellite(s) with metastatic node(s). M0: No detectable evidence of distant metastases. (from AJCC 7th Ed.)|NCI|N|
C2828075|An image of inferior quality, may still be adequate to make a diagnosis.|NCI|N|
C2828076|An artifact that occurs when the scanned body part is larger than field of view (FOV) such that portions of the object outside of the desired FOV get mapped to an incorrect location inside the FOV.|NCI|N|
C2828077|An artifact that occurs when tissues in another plane get added to the image.|NCI|N|
C2828078|An artifact that occurs when tissues outside the field of view (FOV) get added to the opposite side of the image.|NCI|N|
C2828079|An artifact that occurs when signals from a different spectral range get added to an image.|NCI|N|
C2828080|An artifact resulting from an error in data collection.|NCI|N|
C2828081|Criteria for the diagnosis of Alzheimer''s disease (AD), proposed in 1984 by the National Institute of Neurological and Communicative Disorders (NINCDS) and the Stroke-Alzheimer''s Disease and Related Disorders Association (ADRDA, now the Alzheimer''s Association). The criteria state that existing cognitive impairment may be considered possible or probable AD by neuropsychological testing but definitive diagnosis requires histopathologic confirmation. They specify eight cognitive domains that may be impaired in AD: memory, language, perceptual skills, attention, constructive abilities, orientation, problem solving, and functional abilities.|NCI|N|
C2828082|An artifact that occurs where different tissues meet.|NCI|N|
C2828083|An edge artifact that results in image blurring.|NCI|N|
C2828085|An artifact that happens when a structure is present in adjacent slices and their signals are averaged.|NCI|N|
C2828086|A magnetic field perturbation artifact that results in multiple high intensity rings.|NCI|N|
C2828087|An artifact resulting from movement of the object being imaged during the imaging sequence.|NCI|N|
C2828088|An artifact that results from turbulent flow of body fluids in an imaging field.|NCI|N|
C2828089|An artifact that results from a gradient which is not constant with respect to the gradient direction.|NCI|N|
C2828090|An artifact resulting from the flow of unsaturated spins into the imaged slice.|NCI|N|
C2828091|An artifact resulting from the flow of excited spins out of the imaged slice.|NCI|N|
C2828092|An artifact resulting from non-uniform signal intensities across the imaging field.|NCI|N|
C2828093|An artifact resulting from a signal which has a frequency different from that expected for the system.|NCI|N|
C2828095|An artifact resulting in ghost images of a vessel extending across the image in the phase encoding direction.|NCI|N|
C2828096|An artifact often associated with cardiac imaging where the algorithm which provides the best temporal resolution for each slice can provides suboptimal image quality for the entire volume since the cardiac temporal resolution changes from slice to slice.|NCI|N|
C2828097|Artifacts that are produced when acquisition times are reduced and some signals are computed rather than acquired.|NCI|N|
C2828098|A characteristic artifact (ghost) which is shifted with respect to the main image by a half-field of view, resulting from a mismatch in either the amplitude or phase between odd and even echoes.|NCI|N|
C2828099|Stage IIIA includes: (T1/T2, N1a/N1b, M0); T1: Invasive vulvar cancer confined to the vulva or perineum. T2: Vulvar cancer with tumor of any size with extension to adjacent perineal structures (lower/distal 1/3 urethra, lower/distal 1/3 vagina, anal involvement). N1a: Vulvar cancer with one or two lymph node metastasis each measuring 5 mm or less. N1b: Vulvar cancer with one lymph node metastasis measuring 5 mm or greater. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C2828100|Stage IIIB includes: (T1/T2, N2a/N2b, M0). T1: Invasive vulvar cancer confined to the vulva or perineum. T2: Vulvar cancer with tumor of any size with extension to adjacent perineal structures (lower/distal 1/3 urethra, lower/distal 1/3 vagina, anal involvement). N2a: Vulvar cancer with three or more lymph node metastases each measuring 5 mm or less. N2b: Vulvar cancer with two or more lymph node metastases measuring 5 mm or greater. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C2828101|Stage IIIC includes: (T1/T2, N2c, M0). T1: Invasive vulvar cancer confined to the vulva or perineum. T2: Vulvar cancer with tumor of any size with extension to adjacent perineal structures (lower/distal 1/3 urethra, lower/distal 1/3 vagina, anal involvement). N2c: Vulvar cancer with lymph node metastasis with extracapsular spread. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C2828103|An artifact that appears as stripes within the image.|NCI|N|
C2828104|An artifact resulting from static and dynamic field changes in a scanner magnetic field.|NCI|N|
C2828105|An artifact in a CT image.|NCI|N|
C2828106|An imaging artifact caused by a metal structure present in the scan field.|NCI|N|
C2828107|A shape distortion in the z-axis resulting from the weighting function used in the helical interpolation algorithm.|NCI|N|
C2828108|An artifact that occurs as the number of sections acquired per rotation increases and the x-ray beam becomes cone-shaped rather than fan-shaped.|NCI|N|
C2828109|An artifact that appears as a point to point signal fluctuation in a uniform material.|NCI|N|
C2828110|An artifact resulting from scatter of the beam by a dense object.|NCI|N|
C2828112|An artifact resulting from absorpsion of lower energy photons as the beam penetrates through a tissue.|NCI|N|
C2828113|An artifact that is due to a group of channels or views that deviate gradually from the true measurement.|NCI|N|
C2828114|An artifact that is due to errors in an individual detector calibration.|NCI|N|
C2828115|An artifact resulting from an inconsistency in a single measurement.|NCI|N|
C2828116|An artifact resulting from data processing steps after capture of an image.|NCI|N|
C2828117|An artifact resulting from the leakage of an imaging agent from its location of administration.|NCI|N|
C2828118|An artifact that results when an imaging agent is not absorbed or metabolized at the expected rate.|NCI|N|
C2828119|An artifact resulting from excess signal at the injection site.|NCI|N|
C2828120|An artifact resulting from the contamination of the imaging field with an extraneous body substance.|NCI|N|
C2828121|Artifacts that result when the grid frequency is too low or when the grid orientation is parallel to the scan direction.|NCI|N|
C2828122|An artifact resulting from factors within the object being imaged.|NCI|N|
C2828123|An artifact resulting from the presence of a foreign body between the target and the receiver.|NCI|N|
C2828124|An artifact resulting from a problem with the patient.|NCI|N|
C2828125|An artifact resulting from the specific anatomy of the patient.|NCI|N|
C2828126|Artifacts related to the physique or body build of the patient.|NCI|N|
C2828127|An artifact resulting from a patient with a large body size or body mass.|NCI|N|
C2828128|An artifact resulting from the presence of another body structure between the target and the receiver.|NCI|N|
C2828129|An artifact resulting from the incorrect positioning of the patient.|NCI|N|
C2828130|An image artifact that results in unexpected signals due to patient physiology or problem metabolizing an imaging agent.|NCI|N|
C2828131|An imaging artifact resulting from a patient arrhythmia.|NCI|N|
C2828133|An imaging artifact resulting from hyperglycemia of the patient.|NCI|N|
C2828134|An artifact resulting from movement of the patient during image capture.|NCI|N|
C2828135|An artifact resulting from the use of defective equipment or from improper use of equipment.|NCI|N|
C2828136|Artifacts resulting from the electronics of the plate reader or from issues associated with the image plate.|NCI|N|
C2828137|An image of reduced quality resulting from the application of the wrong mask.|NCI|N|
C2828138|An image of reduced quality resulting from the application of a mask in the wrong way.|NCI|N|
C2828139|An image of reduced quality resulting from the application of too many masks.|NCI|N|
C2828140|An image of reduced quality resulting from the application of too few masks.|NCI|N|
C2828141|An image of reduced quality resulting from the use of incorrect or incomplete instructions.|NCI|N|
C2828142|An image of reduced quality resulting from the use of instructions with missing steps.|NCI|N|
C2828143|An image of reduced quality resulting from the use of the wrong instructions.|NCI|N|
C2828144|An image of reduced quality due to the collection or rejection of the wrong signal frequencies.|NCI|N|
C2828145|An image containing random signal.|NCI|N|
C2828150|A squamous cell carcinoma that arises from the oropharynx and is associated with human papillomavirus type 16 infection.|NCI|N|
C2828153|The result obtained from a test commonly administered to assess the physiologic response to extending the arms as straight as possible alongside the body when lying down.|NCI|N|
C2828155|Blue- or purplish-colored body; this is caused by excessive amounts of deoxygenated hemoglobin in the skin vessels of the body.|NCI|N|
C2828156|Blue- or purplish-colored limbs; this is caused by excessive amounts of deoxygenated hemoglobin in the skin vessels of the limbs.|NCI|N|
C2828158|A symptom of gastrointestinal dysfunction seen in neonates who have been exposed to drugs during pregnancy; often accompanied by excessive sucking of fists, fingers and thumbs.|NCI|N|
C2828166|During examination of the newborn infant, the examiner looks for symmetric movement of the lip corners. Movement of the lip corners is governed by the zygomatic major muscle.|NCI|N|
C2828177|Signs and symptoms associated with disturbances within the central nervous system, which includes the brain, spinal cord and meninges.|NCI|N|
C2828178|Shallow inhalations and exhalations that indicate respiratory distress.|NCI|N|
C2828179|Stage IIIC includes: T1-T3, N1, M0. T1: Tumor limited to the uterus. T2: Tumor extends beyond the uterus, within the pelvis. T3: Tumor infiltrates abdominal tissues. N1: Regional lymph node metastasis. M0: No distant metastasis. This staging applies to leiomyosarcoma, endometrial stromal sarcoma, and adenosarcoma. (AJCC 7th ed.)|NCI|N|
C2828182|Stage I includes: (T1, M0, Risk factors: unknown); IA (T1, M0, Risk factors: low risk); IB (T1, M0, Risk factors: high risk). T1: Tumor confined to uterus. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C2828183|Stage IA includes: T1, M0, Risk factors: low risk. T1: Tumor confined to uterus. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C2828184|Stage IB includes: T1, M0, Risk factors: high risk. T1: Tumor confined to uterus. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C2828185|Stage II includes: (T2, M0, Risk factors: unknown); IIA (T2, M0, Risk factors: low risk); IIB (T2, M0, Risk factors: high risk). T2: Tumor extends to other genital structures (ovary, tube, vagina, broad ligaments) by metastasis or direct extension. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C2828186|Stage IIA includes: T2, M0, Risk factors: low risk. T2: Tumor extends to other genital structures (ovary, tube, vagina, broad ligaments) by metastasis or direct extension. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C2828187|Stage IIB includes: T2, M0, Risk factors: high risk. T2: Tumor extends to other genital structures (ovary, tube, vagina, broad ligaments) by metastasis or direct extension. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C2828188|Stage III includes: (Any T, M1a, Risk factors: unknown); IIIA (Any T, M1a, Risk factors: low risk); IIIB (Any T, M1a, Risk factors: high risk). M1a: Lung metastasis. (AJCC 7th ed.)|NCI|N|
C2828189|Stage IIIA includes: Any T, M1a, Risk factors: low risk. M1a: Lung metastasis. (AJCC 7th ed.)|NCI|N|
C2828190|Stage IIIB includes: Any T, M1a, Risk factors: high risk. M1a: Lung metastasis. (AJCC 7th ed.)|NCI|N|
C2828191|Stage IV includes: (Any T, M1b, Risk factors: unknown); IVA (Any T, M1b, Risk factors: low risk); IVB (Any T, M1b, Risk factors: high risk). M1b: All other distant metastasis. (AJCC 7th ed.)|NCI|N|
C2828192|Stage IVA includes: Any T, M1b, Risk factors: low risk. M1b: All other distant metastasis. (AJCC 7th ed.)|NCI|N|
C2828193|Stage IVB includes: Any T, M1b, Risk factors: high risk. M1b: All other distant metastasis. (AJCC 7th ed.)|NCI|N|
C2828198|Stage I includes: IA (T1, N0, M0, G1, G2, GX); IB (T2, N0, M0, G1, G2, GX); (T3, N0, M0, G1, G2, GX). T1: Tumor 8 cm or less in greatest dimension. T2: Tumor more than 8 cm in greatest dimension. T3: Discontinuous tumors in the primary bone site. N0: No regional lymph node metastasis. M0: No distant metastasis. G1: Well differentiated-low grade. G2: Moderately differentiated-low grade. GX: Grade cannot be assessed. (AJCC 7th ed.)|NCI|N|
C2828199|Stage IA includes: T1, N0, M0, G1, G2, GX. T1: Tumor 8 cm or less in greatest dimension. N0: No regional lymph node metastasis. M0: No distant metastasis. G1: Well differentiated-low grade. G2: Moderately differentiated-low grade. GX: Grade cannot be assessed. (AJCC 7th ed.)|NCI|N|
C2828200|Stage IB includes: (T2, N0, M0, G1, G2, GX); (T3, N0, M0, G1, G2, GX). T2: Tumor more than 8 cm in greatest dimension. T3: Discontinuous tumors in the primary bone site. N0: No regional lymph node metastasis. M0: No distant metastasis. G1: Well differentiated-low grade. G2: Moderately differentiated-low grade. GX: Grade cannot be assessed. (AJCC 7th ed.)|NCI|N|
C2828201|Stage II includes: IIA (T1, N0, M0, G3, G4); IIB (T2, N0, M0, G3, G4). T1: Tumor 8 cm or less in greatest dimension. T2: Tumor more than 8 cm in greatest dimension. N0: No regional lymph node metastasis. M0: No distant metastasis. G3: Poorly differentiated. G4: Undifferentiated. (AJCC 7th ed.)|NCI|N|
C2828202|Stage IIA includes: T1, N0, M0, G3, G4. T1: Tumor 8 cm or less in greatest dimension. N0: No regional lymph node metastasis. M0: No distant metastasis. G3: Poorly differentiated. G4: Undifferentiated. (AJCC 7th ed.)|NCI|N|
C2828203|Stage IIB includes: T2, N0, M0, G3, G4. T2: Tumor more than 8 cm in greatest dimension. N0: No regional lymph node metastasis. M0: No distant metastasis. G3: Poorly differentiated. G4: Undifferentiated. (AJCC 7th ed.)|NCI|N|
C2828204|Stage III includes: T3, N0, M0, G3, G4. T3: Tumor more than 8 cm in greatest dimension. N0: No regional lymph node metastasis. M0: No distant metastasis. G3: Poorly differentiated. G4: Undifferentiated. (AJCC 7th ed.)|NCI|N|
C2828205|Stage IV includes: IVA (Any T, N0, M1a, Any G); IVB (Any T, N1, Any M, Any G); (Any T, Any N, M1b, Any G). N0: No regional lymph node metastasis. N1: Regional lymph node metastasis. M1a: Distant metastasis to lung. M1b: Metastasis to other distant sites. (AJCC 7th ed.)|NCI|N|
C2828206|Stage IVA includes: Any T, N0, M1a, Any G. N0: No regional lymph node metastasis. M1a: Distant metastasis to lung. (AJCC 7th ed.)|NCI|N|
C2828207|Stage IVB includes: (Any T, N1, Any M, Any G); (Any T, Any N, M1b, Any G). N1: Regional lymph node metastasis. M1b: Metastasis to other distant sites. (AJCC 7th ed.)|NCI|N|
C2828251|Stage IVA includes: (T4a, N0, M0); (T4a, N1, M0); (T1, N2, M0); (T2, N2, M0); (T3, N2, M0); (T4a, N2, M0). T4a: Lip and oral cavity cancer with moderately advanced local disease. Lip: Tumor invades through cortical bone, inferior alveolar nerve, floor of mouth, or skin of face, i.e., chin or nose. Oral cavity: Tumor invades adjacent structures only (e.g., through cortical bone [mandible or maxilla] into deep [extrinsic] muscle of tongue [genioglossus, hyoglossus, palatoglossus, and styloglossus], maxillary sinus, skin of face). T1: Tumor 2 cm or less in greatest dimension. T2: Tumor more than 2 cm but not more than 4 cm in greatest dimension. T3: Tumor more than 4 cm in greatest dimension. N0: No regional lymph node metastasis. N1: Metastasis in a single ipsilateral lymph node, 3 cm or less in greatest dimension. N2: Metastasis in a single ipsilateral lymph node, more than 3 cm but not more than 6 cm in greatest dimension; or in multiple ipsilateral lymph nodes, none more than 6 cm in greatest dimension; or in bilateral or contralateral lymph nodes, none more than 6 cm in greatest dimension. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C2828252|Stage IVB includes: (Any T, N3, M0); (T4b, Any N, M0). T4b: Lip and oral cavity cancer with very advanced local disease. Tumor invades masticator space, pterygoid plates, or skull base and/or encases internal carotid artery. N3: Metastasis in a lymph node more than 6 cm in greatest dimension. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C2828253|Stage IVC includes: Any T, Any N, M1. M1: Distant metastasis. (AJCC 7th ed.)|NCI|N|
C2828339|A chromosomal translocation that involves chromosome 16. It is often associated with the development of acute myeloid leukemia CBFB-MYH11, acute myelomonocytic leukemia with abnormal eosinophils, and granulocytic sarcoma.|NCI|N|
C2828358|An indication that the subject is currently producing milk.|NCI|N|
C2828363|A finding referring to a medical device that has been placed in the body, usually during a surgical procedure.|NCI|N|
C2828386|One of two possible results of a pass/fail assessment; when the result satisfies a condition.|NCI|N|
C2828721|Autosomal recessive spastic paraplegia-46 (SPG46) is a neurodegenerative disorder characterized by onset in childhood of slowly progressive spastic paraplegia and cerebellar signs. Some patients have cognitive impairment, cataracts, and cerebral, cerebellar, and corpus callosum atrophy on brain imaging (summary by Boukhris et al., 2010 and Martin et al., 2013).
For a discussion of genetic heterogeneity of autosomal recessive spastic paraplegia, see SPG5A (270800).|OMIM|N|
C2829265|TBC1D24-related disorders comprise a continuum of features that were originally described as distinct, recognized phenotypes: DOORS syndrome (deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures). Profound sensorineural hearing loss, onychodystrophy, osteodystrophy, intellectual disability / developmental delay, and seizures. Familial infantile myoclonic epilepsy (FIME). Early-onset myoclonic seizures, focal epilepsy, dysarthria, and mild-to-moderate intellectual disability. Progressive myoclonus epilepsy (PME). Action myoclonus, tonic-clonic seizures, progressive neurologic decline, and ataxia. Early-infantile epileptic encephalopathy 16 (EIEE16). Epileptiform EEG abnormalities which themselves are believed to contribute to progressive disturbance in cerebral function. Autosomal recessive nonsyndromic hearing loss, DFNB86. Profound prelingual deafness. Autosomal dominant nonsyndromic hearing loss, DFNA65. Slowly progressive deafness with onset in the third decade, initially affecting the high frequencies.|GeneReviews|N|
C2829267|Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ELMOD3 gene.|MONDO|N|
C2830004|A sleep disorder characterized by excessive sleepiness and drowsiness.|NCI|N|
C2830012|Gastritis caused by injury to the gastric mucosa by chemicals. The injury occurs due to reflux of bile and pancreatic enzymes.|NCI|N|
C2830515|A finding of cellular abnormalities that are consistent with malignancy on an anal Papanicolaou smear.|NCI|N|
C2830553|A finding of cellular abnormalities that are consistent with malignancy on a vaginal Papanicolaou smear.|NCI|N|
C2837942|A malignant neoplasm that affects the inner ear.|NCI|N|
C2854084|A finding of solitary plasmacytoma that is not growing and responds to treatment.|NCI|N|
C2861599|The reemergence of acute myelomonocytic leukemia after a period of remission.|NCI|N|
C2861609|A finding of acute myeloid leukemia with multilineage dysplasia that is not growing and responds to treatment.|NCI|N|
C2861617|A finding of acute monoblastic and monocytic leukemia that is not growing and responds to treatment.|NCI|N|
C2861618|The reemergence of acute monoblastic and monocytic leukemia after a period of remission.|NCI|N|
C2861623|Juvenile myelomonocytic leukemia which is not growing and responds to treatment.|NCI|N|
C2861639|A finding of acute panmyelosis with myelofibrosis that is not growing and responds to treatment.|NCI|N|
C2867626|A partial or complete breakage of the cuboid bone.|HPO|N|
C2874202|Self-limited delayed puberty (DPSL) is characterized by delayed development of Tanner stage G2 accompanied by low serum gonadotropins. Affected individuals experience spontaneous attainment of Tanner stage G4 by 18 years of age, with normalization of gonadotropins, which excludes a diagnosis of hypogonadotropic hypogonadism (see 147950) (Mancini et al., 2020).|OMIM|N|
C2875024|Inflammation of CEREBRAL VENTRICLES.|MSH|N|
C2875324|A form of dyskinetic cerebral palsy with involuntary movements accompanied by an abnormal, sustained posture.|SNOMEDCT_US|N|
C2880562|A type of age-related cataract that primarily affects the cortex of the lens.|HPO|N|
C2881335|Ocular movement disorder characterized by an impaired conjugate lateral gaze due to damage of the medial longitudinal fasciculus. The right eye is the affected eye and the left eye is the contralateral eye.|SNOMEDCT_US|N|
C2881336|Ocular movement disorder characterised by an impaired conjugate lateral gaze due to damage of the medial longitudinal fasciculus. The left eye is the affected eye and the right eye is the contralateral eye.|SNOMEDCT_US|N|
C2881337|Ocular movement disorder characterized by an impaired conjugate lateral gaze due to damage of the medial longitudinal fasciculus. Both the left and right eyes are the affected eye.|SNOMEDCT_US|N|
C2882221|An acute embolism to the pulmonary vasculature.|NCI|N|
C2882252|A restrictive cardiopathy with manifestation of endocardial fibrosis. This disorder occurs almost exclusively in tropical and subtropical regions. The prevalence is unknown but the disorder is extremely rare in Europe. The fibrosis may affect the right ventricle (leading to adiastole with tricuspid insufficiency) or the left ventricle (causing acute mitral insufficiency, and early and severe pulmonary hypertension). The fibrosis can also be bilateral. The cause is unknown.|SNOMEDCT_US|N|
C2887484|Acute respiratory distress syndrome (ARDS) is defined as an acute disorder that starts within seven days of the inciting event and is characterized by bilateral lung infiltrates and severe progressive hypoxemia in the absence of any evidence of cardiogenic pulmonary edema. ARDS is defined by the patient's oxygen in arterial blood (PaO2) to the fraction of the oxygen in the inspired air (FiO2). These patients have a PaO2/FiO2 ratio of less than 300.|HPO|N|
C2887631|Inflammation and ulceration of the oral mucosa as a result of chemotherapy treatment.|MONDO|N|
C2902961|Hypertension that develops following long-standing compression of renal parenchyma by sub-capsular renal collection, e.g. hematoma, seroma, urinoma.|SNOMEDCT_US|N|
C2903008|The enlargement of the prostate with associated lower urinary tract symptoms (LUTS) which include voiding or obstructive symptoms such as hesitancy, poor and/or intermittent stream, straining, prolonged micturition, feeling of incomplete bladder emptying, dribbling, etc., and storage or irritative symptoms such as frequency, urgency, urge incontinence, and nocturia.|NCI|N|
C2909036|As a result of sharing a single placenta, the blood supplies of monochorionic twin fetuses can become connected, so that they share blood circulation|HPO|N|
C2909975|Metabolic acidaemia relating to the early neonatal period which is defined as newborn between zero and seven days after birth.|SNOMEDCT_US|N|
C2910230|A ureterocele in which the orifice is located in the bladder, with the ureterocele pouch extending submucosally into the urethra.|NCI|N|
C2910233|A urogenital anomaly characterized by infraumbilical exstrophy of a bladder open only in its upper portion and pubic diastasis. It has been described in both males and females and may be associated with trisomy 18, omphalocele, and urethral duplication.|NCI|N|
C2911355|An individual history of dependence on products containing nicotine.|NCI|N|
C2911645|A finding characterized by a decrease in overall body weight; for pediatrics, less than the baseline growth curve.|NCI|N|
C2911646|A disorder characterized by bleeding from the vagina.|NCI|N|
C2911647|A finding characterized by an unexpected or abnormal increase in overall body weight; for pediatrics, greater than the baseline growth curve.|NCI|N|
C2911650|An electrocardiographic finding suggestive of an enlarged cardiac ventricle.|NCI|N|
C2911663|An ICD encounter due to homelessness.|NCI|N|
C2911690|An indication or description that a particular disorder is being managed successfully.|NCI|N|
C2919019|An adverse event that is medically significant but not life-threatening; or for which inpatient care or prolongation of hospitalization are indicated; or that is an important medical event that does not result in hospitalization, but may jeopardize the patient or may require intervention either to prevent hospitalization, to prevent the AE from becoming life-threatening or causing death; or that is disabling; or that results in persistent or significant disability, incapacity, or limitation of self care activities of daily living (ADLs, e.g., getting in and out of bed, dressing, eating, getting around inside, bathing, or using the toilet).|NCI|N|
C2919051|Myocardial tissue which exhibits characteristics of inadequate blood flow.|NCI|N|
C2919133|The inability in males to ejaculate, or to have a normal time to EJACULATION.|MSH|N|
C2919207|Partial or complete paralysis of the vestibulocochlear nerve.|NCI|N|
C2919304|A disease that has its basis in the disruption of valine metabolic process.|MONDO|N|
C2919341|An abnormal accumulation of fluid beneath the skin on the back of the feet.|HPO|N|
C2919441|The loss of continuity between the left subclavian artery and the aorta, with persistent connection to the homolateral pulmonary artery through the patent (PDA) or nonpatent ductus arteriosus.|HPO|N|
C2919443|Undertaking a trip from one place to another via aircraft in the sufficiently recent past to be relevant to some current health issue|SNOMEDCT_US|N|
C2919502|IgA nephropathy secondary to a genetic mutation that is transmitted from parents to offspring.|NCI|N|
C2919519|Sum of proportion of positive staining neoplastic cells score and average intensity of staining score for hormone receptors using immunohistochemistry.|SNOMEDCT_US|N|
C2919670|A designation that a patient has chosen not to heed the directions that medical staff has advised, and has chosen to leave the facility.|NCI|N|
C2919692|An acute myeloid leukemia associated with t(9;11)(p21.3;q23.3) and MLLT3-MLL (KMT2A) fusion protein expression. Morphologically it usually has monocytic features. It may present at any age but it is more commonly seen in children. Patients may present with disseminated intravascular coagulation.|NCI|N|
C2919755|A syndrome comprising testicular germ cell cancer, cryptorchidism and some cases of hypospadias and male infertility with impaired development of the testis.|MONDO|N|
C2919760|Sexual relations with a person with whom the subject has not previously had such relations within a time frame relevant to some current health issue|SNOMEDCT_US|N|
C2919764|Right-axis deviation with frontal QRS axis between 90° and 180° rS in leads I and aVL and qR in inferior leads (Q waves 40 ms); QRS duration 120 ms; Exclude other causes of right-axis deviation.|SNOMEDCT_US|N|
C2919796|Glycogen storage disease type I (GSDI) is characterized by accumulation of glycogen and fat in the liver and kidneys resulting in hepatomegaly and nephromegaly. Severely affected infants present in the neonatal period with severe hypoglycemia due to fasting intolerance. More commonly, untreated infants present at age three to four months with hepatomegaly, severe hypoglycemia with or without seizures, lactic acidosis, hyperuricemia, and hypertriglyceridemia. Affected children typically have doll-like faces with full cheeks, relatively thin extremities, short stature, and a protuberant abdomen. Xanthoma and diarrhea may be present. Impaired platelet function and development of reduced or dysfunctional von Willebrand factor can lead to a bleeding tendency with frequent epistaxis and menorrhagia in females. Individuals with untreated GSDIb are more likely to develop impaired neutrophil and monocyte function as well as chronic neutropenia resulting in recurrent bacterial infections, gingivitis, periodontitis, and genital and intestinal ulcers. Long-term complications of untreated GSDI include short stature, osteoporosis, delayed puberty, renal disease (including proximal and distal renal tubular acidosis, renal stones, and renal failure), gout, systemic hypertension, pulmonary hypertension, hepatic adenomas with potential for malignancy, pancreatitis, and polycystic ovaries. Seizures and cognitive impairment may occur in individuals with prolonged periods of hypoglycemia. Normal growth and puberty are expected in treated children. Most affected individuals live into adulthood.|GeneReviews|N|
C2919802|Type II diabetes mellitus in which there are frequent, clinically significant fluctuations in blood glucose levels both above and below levels expected to be achieved by available therapies.|SNOMEDCT_US|N|
C2919848|Separation of the odontoid process from the body of the axis.|HPO|N|
C2919886|Urolithiasis in which the composition of the stone(s) is predominantly magnesium ammonium phosphate.|NCI|N|
C2919902|Pregnancy loss before 5th week of gestation with no gestational sac visible on ultrasonogram.|NCI|N|
C2919907|A gap (cleft) affecting one of the alveolar ridges, which are the protuberances in the mouth that contain the sockets (alveoli) of the teeth. An alveolar cleft can affect all structures of the alveolar ridge, including the gingiva, other mucosa, periosteum, alveolar bone, and teeth. Alveolar cleft occurs in response to divergence from normal development during frontonasal prominence growth, contact, and fusion. The most common alveolar portion of the cleft is located between the lateral incisor and the canine.|HPO|N|
C2919945|Cerebral cavernous malformations (CCMs) are vascular malformations in the brain and spinal cord comprising closely clustered, enlarged capillary channels (caverns) with a single layer of endothelium without mature vessel wall elements or normal intervening brain parenchyma. The diameter of CCMs ranges from a few millimeters to several centimeters. CCMs increase or decrease in size and increase in number over time. Hundreds of lesions may be identified, depending on the person's age and the quality and type of brain imaging used. Although CCMs have been reported in infants and children, the majority become evident between the second and fifth decades with findings such as seizures, focal neurologic deficits, nonspecific headaches, and cerebral hemorrhage. Up to 50% of individuals with FCCM remain symptom free throughout their lives. Cutaneous vascular lesions are found in 9% of those with familial cerebral cavernous malformations (FCCM; see Diagnosis/testing) and retinal vascular lesions in almost 5%.|GeneReviews|N|
C2921028|Disturbances in the normal fluency and time patterning of speech that are inappropriate for the individual''s age and language skills. (DSM-V)|MSH|N|
C2921627|A first neurologic episode caused by inflammation/demyelination of one or more central nervous system sites that lasts at least 24 hours.|SNOMEDCT_US|N|
C2922984|Inability of primary caregiver to create, maintain or regain an environment that promotes the optimum growth and development of the child.|NANDA-I|N|
C2923434|A calculated result that uses the following formula to quantify both systolic and diastolic ventricular function: MPI = IVCT + IVRT) / V ET, in which IVCT is isovolumetric contraction time, IVRT is isovolumetric relaxation time, and V ET is ventricular ejection time.|NCI|N|
C2926602|The leakage of a substance from an orifice or wound.|NCI|N|
C2930618|An historical term for a variety of abnormalities in sex development that lead to anomalies in the reproductive tract and/or external genitalia.|MSH|N|
C2930619|A congenital disorder characterized by abnormalities in the development of the sexual characteristics.|NCI|N|
C2930747|Used in World War I to designate a wide variety of MENTAL DISORDERS presumably due to combat experience. from Americanl Psychiatric Glossary, 7th ed.|MSH|N|
C2930748|Reactions to fierce combat or operations other than war, which may be both physical and psychological.|MSH|N|
C2930792|An instance of acanthosis nigricans (disease) that is caused by an inherited modification of the individual's genome.|MONDO|N|
C2930799|A parasitic disease caused by the protozoa, <i>Entamoeba histolytica</i>, mainly occurring in tropical regions after the ingestion of an amoebic cyst, and resulting in clinical manifestations that may range from an asymptomatic state to amoebic colitis (violent abdominal pain, a painful contracted feeling around the anal sphincter, blood and mucus in the stools but without the presence of fever), or amoebic liver abscesses (fever, chills, abdominal pain, weight loss, hepatomegaly) that can be fatal if not immediately treated. Extraintestinal involvement elsewhere (i.e. thoracic, hepatic) is extremely rare.|ORDO|N|
C2930802|The designation 'antiphospholipid syndrome' was proposed for the association of arterial and venous thrombosis, recurrent fetal loss, and immune thrombocytopenia with a spectrum of autoantibodies directed against cellular phospholipid components. Anticardiolipin antibodies may react with cardiolipin and with other negatively charged phospholipids, including beta-2-glycoprotein I (B2GPI, APOH; 138700). The term 'lupus anticoagulant' refers to a heterogeneous group of antibodies, most commonly of the IgG type, that are detected by their inhibitory effect on coagulant-active phospholipid components of in vitro coagulation tests (summary by Matthey et al., 1989).
Shoenfeld et al. (2008) noted that antiphospholipid syndrome is characterized by up to 30 different autoantibodies, including those against platelets, glycoproteins, coagulation factors, lamins, mitochondrial antigens, and cell surface markers. Some of these may have an additive effect on the prothrombotic tendency of the syndrome.
Ruiz-Irastorza et al. (2010) reviewed pathophysiologic, clinical, diagnostic, and therapeutic advances related to the antiphospholipid syndrome.
Various autoimmune disorders that cluster in families, including autoimmune thrombocytopenia (188030), are discussed elsewhere (e.g., 109100, 269200).|OMIM|N|
C2930803|A number of families have been described, where several members were affected with coarctation of aorta. In a systematic study of coarctation, familial aggregation was considered as result of multifactorial inheritance and recurrence risks in sibs was evaluated at about 0.5% for coarctation and 1.0% for any form of congenital heart defect. Nevertheless, in some of the described families, aortic coarctations seems to be inherited as an autosomal dominant mutation.|ORDO|N|
C2930824|A rare autoimmune encephalitis involving the mesial temporal lobes and clinically characterized by subacute onset (i. e. rapid progression of less than three months) of short-term memory deficits, seizures or psychiatric symptoms, such as behavioral changes, anxiety, depression, and psychosis. Further diagnostic criteria are bilateral abnormalities restricted to the mesial temporal lobes in brain MRI, cerebrospinal fluid pleocytosis and/or epileptic or slow-wave activity involving the temporal lobes in EEG, and reasonable exclusion of alternative causes. Paraneoplastic or non-paraneoplastic antibodies against neuronal antigens may be found in serum and/or cerebrospinal fluid.|ORDO|N|
C2930835|Swelling of the optic disc in the absence of increased intracranial pressure.|NCI|N|
C2930842|A rare chronic papulosquamous disorder of unknown etiology characterized by small follicular papules, scaly red-orange patches, and palmoplantar hyperkeratosis, which may progress to plaques or erythroderma. Although most of the cases are sporadic and acquired, a familial form of the disease exists.|MONDO|N|
C2930861|An instance of primary ovarian failure that is caused by an inherited modification of the individual's genome.|MONDO|N|
C2930862|A rare, medium or small vessel vasculitis characterized by focal and/or diffuse neurologic symptoms due to a documented arteritic process in the central nervous system, in the absence of other identified underlying cause (infectious, systemic, other neurologic diseases, etc.). It presents with non-specific symptoms of headache, stroke or transient ischemic attacks with cognitive impairment, hemiplegia, weakness, and rarely, with cranial nerve involvement, seizures and ataxia.|ORDO|N|
C2930865|An abnormal osseous union (fusion) between the radius and the humerus.|HPO|N|
C2930866|An extremely rare genetic disorder characterized by corneal anesthesia, retinal abnormalities, bilateral hearing loss, distinct facies, patent ductus arteriosus, Hirschsprung disease, short stature and intellectual disability. The phenotype is variable. Some affected individuals have only mild disease manifestations. The etiology of this syndrome is not yet known. Mutations in an as of yet unidentified gene, involved in autonomic nervous system function, are suspected. Follows an autosomal dominant pattern of inheritance, probably with variable expressivity.|SNOMEDCT_US|N|
C2930867|A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of the triad: congenital bilateral symmetrical subtotal external auditory canal atresia, bilateral vertical talus and increased interocular distance.|SNOMEDCT_US|N|
C2930868|A rare inflammatory and autoimmune disease with epilepsy characterized by unilateral hemispheric atrophy, associated with drug-resistant focal epilepsy, progressive hemiplegia, and cognitive decline. The disease mainly affects children and begins with a prodromal period with mild hemiparesis or infrequent seizures lasting up to several years. The acute stage is marked by frequent seizures arising from one cerebral hemisphere, followed by a residual stage with persistent severe neurological deficits and relapsing epilepsy.|ORDO|N|
C2930869|A rare genetic dysostosis syndrome with characteristics of intrauterine growth restriction, short stature (with short lower segment), lower limb joint contractures and muscular hypotrophy, narrow small pelvis, lumbar hyperlordosis with scoliosis and foot deformity (short overlapping toes). Imaging reveals ovoid/wedge-shaped vertebral bodies, pelvic and skeletal hypoplasia with metatarsal fusion in the lower limbs and normal skull and upper limbs.|SNOMEDCT_US|N|
C2930871|This syndrome manifests with mesomelic shortening and bowing of the limbs, camptodactyly, skin dimpling and cleft palate with retrognathia and mandibular hypoplasia. Transmission is autosomal recessive.|SNOMEDCT_US|N|
C2930888|Trisomy 20p is a chromosomal disorder resulting from duplication of all or part of the short arm of chromosome 20. It is mostly characterized by normal growth, mild to moderate intellectual disability, speech delay, poor coordination and evocative facial features.|ORDO|N|
C2930898|Involuntary twitching of the eyelid.|MONDO|N|
C2930902|Bidirectional ventricular tachycardia (BDVT) is a regular ventricular tachyarrhythmia (VT) with two different QRS morphologies alternating at a rate typically between 140 and 180 bpm.|HPO|N|
C2930908|A rare chromosomal anomaly syndrome with a highly variable phenotype. Principle characteristics are intellectual disability, growth and developmental delay, facial dysmorphism (including microphthalmia, deep-set eyes, low-set, malformed ears, bulbous nose, high-arched palate, micrognathia) and congenital heart defects (ventricular septal defect), as well as urogenital (hypoplastic genitalia, cryptorchidism), skeletal (congenital joint dislocations or hyperflexion, scoliosis/kyphosis) and central nervous system anomalies (hydrocephalus, Dandy-Walker malformation). Pigmentary mosaic skin lesions along the lines of Blaschko are also frequently observed.|SNOMEDCT_US|N|
C2930913|A cytogenetic abnormality that refers to the loss of all or part of the long arm of chromosome 13 (13q).|NCI|N|
C2930916|Ring chromosome 14 syndrome is a condition characterized by seizures and intellectual disability. Recurrent seizures (epilepsy) develop in infancy or early childhood. In many cases, the seizures are resistant to treatment with anti-epileptic drugs. Most people with ring chromosome 14 syndrome also have some degree of intellectual disability or learning problems. Development may be delayed, particularly the development of speech and of motor skills such as sitting, standing, and walking.\n\nAdditional features of ring chromosome 14 syndrome can include slow growth and short stature, a small head (microcephaly), puffy hands and/or feet caused by a buildup of fluid (lymphedema), and subtle differences in facial features. Some affected individuals have problems with their immune system that lead to recurrent infections, especially involving the respiratory system. Abnormalities of the retina, the specialized tissue at the back of the eye that detects light and color, have also been reported in some people with this condition. These changes typically do not affect vision. Major birth defects are rarely seen with ring chromosome 14 syndrome.|MedlinePlus Genetics|N|
C2930917|A rare chromosomal anomaly disorder with a highly variable phenotype. Principle characteristics are growth and developmental delay, intellectual disability, body asymmetry/hypotonia, congenital heart defects, genitourinary abnormalities (cryptorchidism, micropenis, large clitoris, labial swelling), and abnormal skin hyperpigmentation. Patients usually present with craniofacial dysmorphism such as microcephaly, abnormal palpebral fissure, hypertelorism, ear abnormalities, broad nose, low-set ears, micro/retrognathia and cleft or highly arched palate.|SNOMEDCT_US|N|
C2930929|Abdominal cystic lymphangioma is a benign (noncancerous) malformation of the lymphatic vessels in the abdomen. These vessels carry lymph, a fluid that contains white blood cells that fight infection, throughout the body. The severity of the condition and the associated features vary from person to person. When present, signs and symptoms may include abdominal pain, an increase in waist circumference, an abdominal mass, intestinal obstruction, and/or volvulus (a twisting of the intestines). The cause of abdominal cystic lymphangioma is poorly understood; however, scientists suspect that it is a congenital anomaly. Most cases are diagnosed in people with no family history of the condition. Treatment varies based on the severity of the condition. People with small malformations that do not cause any symptoms may simply be followed with regular imaging studies to monitor for progression. Some of these cases may resolve spontaneously without treatment. When necessary, surgical excision is often the treatment of choice since it is associated with the lowest risk of recurrence..|MONDO|N|
C2930936|A rare malformation characterized by missing scalp and flat bones over an area of the cranial vault. The size of the affected area is variable. In rare cases, acalvaria involves the whole of the dome-like superior portion of the cranium comprising the frontal, parietal, and occipital bones. Dura mater and associated muscles are absent in the affected area but the central nervous system is usually unaffected, although some neuropathological abnormality is often present (<i>e.g.</i> holoprosencephaly or gyration anomalies). Skull base and facial bones are normal.|ORDO|N|
C2930941|A rare, severe, interstitial lung disease characterized by insidious onset with subacute or chronic non-specific respiratory manifestations (dyspnea, cough, wheezing) often associated with systemic manifestations (fatigue, malaise, weight loss) and a history of asthma (up to half of patients). Eosinophilia is present in most cases, usually in excess of 1000 cells/mm3.|ORDO|N|
C2930947|A rare genetic disorder, characterized by under-development of bone marrow and neurological disorders such as weakness on one side of the body, agenesis of corpus callosum and hydrocephalus.|MONDO|N|
C2930948|A syndrome characterized by frontal bossing, cloudy corneae, low nasal ridge, and micrognathia, hypoplastic thorax, and rhizomelic micromelia.|MONDO|N|
C2930949|A syndrome characterized by a malformations of the neck due to a branchial arch defect. In the neonatal period the following signs were noted: symmetrical preauricular pits, retroauricular additional rudimentary auricles, a blindly ending coccygeal groove, microstomia and papillomata of the hypopharynx. This is an n-of-1 use case where only one patient or family has been described with this disorder.|MONDO|N|
C2930950|This syndrome has characteristics of short stature, intellectual deficit, facial dysmorphism, short webbed neck, skin changes and congenital heart defects. It has been reported in four Arab Bedouin siblings born to consanguineous parents.|SNOMEDCT_US|N|
C2930951|A disease characterized by cherubism (disorder characterized by abnormal bone tissue in the lower part of the face. Beginning in early childhood, both the lower jaw (the mandible) and the upper jaw (the maxilla) become enlarged as bone is replaced with painless, cyst-like growths.), visual impairment due to optic atrophy and short stature. This is an n-of-1 use case where only one patient or family has been described with this disorder.|MONDO|N|
C2930953|A form of ectodermal dysplasia syndrome with characteristics of trichodysplasia, with absent eyebrows and eyelashes, onychodysplasia, mild retrognathia, abnormal dermatoglyphics (excess of whorls on fingertips, radial loop on finger, hypothenar pattern), intellectual disability and normal teeth and sweating. Additional variable manifestations include high implanted or prominent ears, mild hearing loss, supernumerary nipple, café-au-lait spots, keratosis pilaris, and irregular menses. To date, four individuals from 2 generations of a consanguineous family of Portuguese descent have been described in the literature. Males and females were equally affected. Hidrotic ectodermal dysplasia, Halal type is inherited in an autosomal recessive manner.|SNOMEDCT_US|N|
C2930954|This syndrome is characterised by the combination of microcephaly, cleft palate, and variable anomalies such as unusual facial appearance, hypotelorism, abnormal retinal pigmentation, maxillary hypoplasia, goitre, camptodactyly, mild intellectual deficit, and abnormal dermatoglyphics. It has been described only once; in two sisters and their mother. Although microcephaly and intellectual deficit are frequently associated with cleft palate, the other features of these patients are in favour of this syndrome being an entity per se. The mode of inheritance is autosomal or X-linked dominant.|SNOMEDCT_US|N|
C2930955|A rare hereditary motor and sensory neuropathy with characteristics of flexion deformities of the thumb and fingers, sensory deficit in the hand and polyneuropathic electrophysiologic findings in the limbs. Operation on the hands reveals extensor muscles and their tendons to be absent or hypoplastic. There have been no further descriptions in the literature since 1986.|SNOMEDCT_US|N|
C2930956|A rare bulbospinal muscular atrophy characterized by generalized neonatal hypotonia, progressive pontobulbar and spinal palsy, pyramidal signs, and deafness. External ophthalmoplegia and bilateral mydriasis are typical signs. There have been no further descriptions in the literature since 1994.|SNOMEDCT_US|N|
C2930957|A rare rodent-borne, potentially severe, hemorrhagic disease caused by Old World Hantaviruses characterized by high fever, malaise, headache, myalgia, arthralgia, backache, abdominal pain, oliguria/renal failure and systemic hemorrhagic manifestations.|ORPHANET|N|
C2930960|A rare genetic disease characterized by intellectual disability, growth delay, absence deformities of upper and lower limbs, hypotrichosis, hypoplastic nails, abnormal dentition, abnormal auricles, hypoplastic nipples, thyroid enlargement, and abnormalities of tyrosine and/or tryptophane metabolism. Hypogonadism and cleft lip have also been reported. No new cases have been confirmed since 1970.|ORDO|N|
C2930962|A rare developmental defect during embryogenesis with characteristics of severe, unilateral or bilateral lower limb malformations (including tibial hypoplasia, split and rocker bottom-shaped feet, and oligo syndactyly), normal upper limbs and hypospadias. Additional dysmorphic features (for example short neck and low-set, large ears), atrial septal defect, ureteropelvic junction stenosis and slight septation of the spleen, have also been reported. There have been no further descriptions in the literature since 1977.|SNOMEDCT_US|N|
C2930967|A well-differentiated neuroendocrine neoplasm of low, intermediate, or high grade arising from the digestive system. It is characterized by the presence of cells with features similar to those of the normal endocrine cells of the digestive system. The neoplastic cells express immunohistochemical evidence of neuroendocrine differentiation and hormones.|NCI|N|
C2930970|Acromesomelic dysplasia-2C (AMD2C) is characterized by skeletal abnormalities restricted to the limbs; the craniofacial skeleton and axial skeletal structures are normal. The severity of the long bone shortening progresses in a proximal to distal direction. The hands and feet are most severely affected, but the distal phalanges are relative normal. Affected individuals have joint dislocations but the number of joints involved is not constant (summary by Thomas et al., 1996).
For a discussion of genetic heterogeneity of acromesomelic dysplasia, see AMD1 (602875).|OMIM|N|
C2930972|A rare teratogenic embryofetopathy due to exposure to isotretinoin, an oral synthetic vitamin A derivative, which is used to treat severe recalcitrant cystic acne. Exposure to isotretinoin during the first trimester of pregnancy has been associated with an increased risk of spontaneous abortions and severe birth defects including serious craniofacial (microcephaly, asymmetric crying facies, microphthalmia, developmental abnormalities of the external ear, ocular hypertelorism), cardiovascular (conotruncal heart defects, aortic arch abnormalities), and central nervous system (hydrocephalus, microcephaly, lissencephaly, Dandy-Walker malformation, cognitive deficit) anomalies and thymic aplasia.|SNOMEDCT_US|N|
C2930973|A primary dysautonomia characterized by hypohidrosis and selective parasympathetic peripheral autonomic nerve disturbances of acute onset.|MONDO|N|
C2930978|A rare genetic myotonic syndrome characterised by childhood onset of progressive and severe myotonia (with generalised muscular hypertrophy and progressive impairment of gait) short stature, skeletal abnormalities (including pectus carinatum, short, wedge-shaped thoracolumbar vertebrae, kyphoscoliosis, genu valgum, irregular femoral epiphyses) and mild to moderate intellectual deficiency. Facial dysmorphism and joint limitation are not associated. There have been no further descriptions in the literature since 1984.|SNOMEDCT_US|N|
C2930980|Malignant hyperthermia susceptibility (MHS) is a pharmacogenetic disorder of skeletal muscle calcium regulation associated with uncontrolled skeletal muscle hypermetabolism. Manifestations of malignant hyperthermia (MH) are precipitated by certain volatile anesthetics (i.e., halothane, isoflurane, sevoflurane, desflurane, enflurane), either alone or in conjunction with a depolarizing muscle relaxant (specifically, succinylcholine). The triggering substances cause uncontrolled release of calcium from the sarcoplasmic reticulum and may promote entry of extracellular calcium into the myoplasm, causing contracture of skeletal muscles, glycogenolysis, and increased cellular metabolism, resulting in production of heat and excess lactate. Affected individuals experience acidosis, hypercapnia, tachycardia, hyperthermia, muscle rigidity, compartment syndrome, rhabdomyolysis with subsequent increase in serum creatine kinase (CK) concentration, hyperkalemia with a risk for cardiac arrhythmia or even cardiac arrest, and myoglobinuria with a risk for renal failure. In nearly all cases, the first manifestations of MH (tachycardia and tachypnea) occur in the operating room; however, MH may also occur in the early postoperative period. There is mounting evidence that some individuals with MHS will also develop MH with exercise and/or on exposure to hot environments. Without proper and prompt treatment with dantrolene sodium, mortality is extremely high.|GeneReviews|N|
C2930981|Malignant hyperthermia susceptibility (MHS) is a pharmacogenetic disorder of skeletal muscle calcium regulation associated with uncontrolled skeletal muscle hypermetabolism. Manifestations of malignant hyperthermia (MH) are precipitated by certain volatile anesthetics (i.e., halothane, isoflurane, sevoflurane, desflurane, enflurane), either alone or in conjunction with a depolarizing muscle relaxant (specifically, succinylcholine). The triggering substances cause uncontrolled release of calcium from the sarcoplasmic reticulum and may promote entry of extracellular calcium into the myoplasm, causing contracture of skeletal muscles, glycogenolysis, and increased cellular metabolism, resulting in production of heat and excess lactate. Affected individuals experience acidosis, hypercapnia, tachycardia, hyperthermia, muscle rigidity, compartment syndrome, rhabdomyolysis with subsequent increase in serum creatine kinase (CK) concentration, hyperkalemia with a risk for cardiac arrhythmia or even cardiac arrest, and myoglobinuria with a risk for renal failure. In nearly all cases, the first manifestations of MH (tachycardia and tachypnea) occur in the operating room; however, MH may also occur in the early postoperative period. There is mounting evidence that some individuals with MHS will also develop MH with exercise and/or on exposure to hot environments. Without proper and prompt treatment with dantrolene sodium, mortality is extremely high.|GeneReviews|N|
C2930982|Malignant hyperthermia susceptibility (MHS) is a pharmacogenetic disorder of skeletal muscle calcium regulation associated with uncontrolled skeletal muscle hypermetabolism. Manifestations of malignant hyperthermia (MH) are precipitated by certain volatile anesthetics (i.e., halothane, isoflurane, sevoflurane, desflurane, enflurane), either alone or in conjunction with a depolarizing muscle relaxant (specifically, succinylcholine). The triggering substances cause uncontrolled release of calcium from the sarcoplasmic reticulum and may promote entry of extracellular calcium into the myoplasm, causing contracture of skeletal muscles, glycogenolysis, and increased cellular metabolism, resulting in production of heat and excess lactate. Affected individuals experience acidosis, hypercapnia, tachycardia, hyperthermia, muscle rigidity, compartment syndrome, rhabdomyolysis with subsequent increase in serum creatine kinase (CK) concentration, hyperkalemia with a risk for cardiac arrhythmia or even cardiac arrest, and myoglobinuria with a risk for renal failure. In nearly all cases, the first manifestations of MH (tachycardia and tachypnea) occur in the operating room; however, MH may also occur in the early postoperative period. There is mounting evidence that some individuals with MHS will also develop MH with exercise and/or on exposure to hot environments. Without proper and prompt treatment with dantrolene sodium, mortality is extremely high.|GeneReviews|N|
C2930987|A malignant sinonasal neoplasm with combined histological features of teratoma and carcinosarcoma, lacking malignant germ cell components. (WHO 2017)|NCI|N|
C2930989|A maple syrup urine disease caused by mutations in BCKDHA.|MONDO|N|
C2930990|The major clinical features of maple syrup urine disease (MSUD) are mental and physical retardation, feeding problems, and a maple syrup odor to the urine. The keto acids of the branched-chain amino acids (BCAA) are present in the urine, resulting from a block in oxidative decarboxylation. There are 4 clinical subtypes of MSUD1B: the classic neonatal severe form, an intermediate form, an intermittent form, and a thiamine-responsive form (Chuang and Shih, 2001). The classic form is manifested within the first 2 weeks of life with poor feeding, lethargy, seizures, coma, and death if untreated. Intermediate MSUD is associated with elevated BCAAs and BCKA, with progressive mental retardation and developmental delay without a history of catastrophic illness. The diagnosis is usually delayed for many months. An intermittent form of MSUD may have normal levels of BCAAs, normal intelligence and development until a stress, e.g., infection, precipitates decompensation with ketoacidosis and neurologic symptoms, which are usually reversed with dietary treatment. Thiamine-responsive MSUD is similar to the intermediate phenotype but responds to pharmacologic doses of thiamine with normalization of BCAAs (Chuang et al., 1995).
For general phenotypic information and a discussion of genetic heterogeneity of MSUD, see MSUD1A (248600).|OMIM|N|
C2930995|A rare, genetic, pigmentation anomaly of the skin characterized by generalized, irregularly shaped, asymptomatic, hyper- and hypopigmented macules distributed in a reticular pattern involving the trunk, limbs, and sometimes the face. The palms, soles and mucosa are usually not affected. Systemic abnormalities have been rarely reported.|ORDO|N|
C2930997|Congenital disorders of glycosylation, previously called carbohydrate-deficient glycoprotein syndromes (CDGSs), are caused by defects in mannose addition during N-linked oligosaccharide assembly. CDGs can be divided into 2 types, depending on whether they impair lipid-linked oligosaccharide (LLO) assembly and transfer (CDG I), or affect trimming of the protein-bound oligosaccharide or the addition of sugars to it (CDG II) (Orlean, 2000).
CDG Ic is characterized by psychomotor retardation with delayed walking and speech, hypotonia, seizures, and sometimes protein-losing enteropathy. It is the second largest subtype of CDG (summary by Sun et al., 2005).
For a discussion of the classification of CDGs, see CDG1A (212065).
Freeze and Aebi (1999) reviewed CDG Ib (602579) and CDG Ic.|OMIM|N|
C2931001|Congenital disorders of glycosylation (CDG), previously called carbohydrate-deficient glycoprotein syndromes (CDGSs), are a group of hereditary multisystem disorders first recognized by Jaeken et al. (1980). The characteristic biochemical abnormality of CDGs is the hypoglycosylation of glycoproteins, which is routinely determined by isoelectric focusing (IEF) of serum transferrin. Type I CDG comprises those disorders in which there is a defect in the assembly of lipid-linked oligosaccharides or their transfer onto nascent glycoproteins, whereas type II CDG comprises defects of trimming, elongation, and processing of protein-bound glycans.
CDG1G is a multisystem disorder characterized by impaired psychomotor development, dysmorphic features, failure to thrive, male genital hypoplasia, coagulation abnormalities, and immune deficiency. More variable features include skeletal dysplasia, cardiac anomalies, ocular abnormalities, and sensorineural hearing loss. Some patients die in the early neonatal or infantile period, whereas others are mildly affected and live to adulthood (summary by Tahata et al., 2019).
For a general discussion of CDGs, see CDG1A (212065).|OMIM|N|
C2931002|CDGs, previously called carbohydrate-deficient glycoprotein syndromes, grew from hereditary multisystem disorders first recognized by Jaeken et al. (1980). The characteristic biochemical abnormality of CDGs is the hypoglycosylation of glycoproteins, which is routinely determined by isoelectric focusing of serum transferrin. Type I CDG comprises those disorders in which there is a defect in the assembly of lipid-linked oligosaccharides or their transfer onto nascent glycoproteins, whereas type II CDG comprises defects of trimming, elongation, and processing of protein-bound glycans. For a general discussion of CDGs, see CDG1A (212065).
CDG1H is a severe form of CDG. The majority of patients have brain involvement, liver pathology, gastrointestinal symptoms, dysmorphism (including brachydactyly), eye involvement (especially cataract), and skin symptoms. Most patients die within the first year of life (summary by Marques-da-Silva et al., 2017).|OMIM|N|
C2931004|Like all CDGs, which are caused by a shortage of precursor monosaccharide phosphate or deficiencies in the glycosyltransferases required for lipid-linked oligosaccharide precursor (LLO) synthesis, CDG Ij is caused by a defect in the formation of DPAGT1, the first dolichyl-linked intermediate of the protein N-glycosylation pathway.
For a general discussion of CDGs, see CDG1A (212065).|OMIM|N|
C2931005|Congenital disorders of glycosylation (CDGs) comprise a group of multisystem diseases with mostly severe psychomotor and mental retardation. Type I CDG comprises those disorders in which there are defects that affect biosynthesis of dolichol-linked oligosaccharides in the cytosol or the endoplasmic reticulum (ER), as well as defects involving the transfer of oligosaccharides onto nascent glycoproteins. Type II CDG comprises all defects of further trimming and elongation of N-linked oligosaccharides in the ER and Golgi (Schwarz et al., 2004).
CDG1K is a type I CDG characterized by predominant neurologic involvement. Survival ranges from the second day of life to adulthood. The liver is affected in a minority of patients and shows hepatomegaly, edema, ascites, cholestatic jaundice, portal hypertension, and Budd-Chiari syndrome (summary by Marques-da-Silva et al., 2017).
For a general discussion of CDGs, see CDG1A (212065).|OMIM|N|
C2931006|Congenital disorders of glycosylation (CDGs) that represent defects of dolichol-linked oligosaccharide assembly are classified as CDG type I. For a general description and a discussion of the classification of CDGs, see CDG1A (212065).|OMIM|N|
C2931007|Congenital disorder of glycosylation type Ix (CDG1X) is a rare autosomal recessive disorder of protein glycosylation. Clinical features include hypotonia, developmental delay, seizures and respiratory difficulties (Shrimal et al., 2013; Kilic and Akkus, 2020).|OMIM|N|
C2931008|Congenital disorders of glycosylation (CDGs) are a genetically heterogeneous group of autosomal recessive disorders caused by enzymatic defects in the synthesis and processing of asparagine (N)-linked glycans or oligosaccharides on glycoproteins. These glycoconjugates play critical roles in metabolism, cell recognition and adhesion, cell migration, protease resistance, host defense, and antigenicity, among others. CDGs are divided into 2 main groups: type I CDGs (see, e.g., CDG1A, 212065) comprise defects in the assembly of the dolichol lipid-linked oligosaccharide (LLO) chain and its transfer to the nascent protein, whereas type II CDGs refer to defects in the trimming and processing of the protein-bound glycans either late in the endoplasmic reticulum or the Golgi compartments. The biochemical changes of CDGs are most readily observed in serum transferrin (TF; 190000), and the diagnosis is usually made by isoelectric focusing of this glycoprotein (reviews by Marquardt and Denecke, 2003; Grunewald et al., 2002).
Genetic Heterogeneity of Congenital Disorder of Glycosylation Type II
Multiple forms of CDG type II have been identified; see CDG2B (606056) through CDG2Z (620201), and CDG2AA (620454) to CDG2BB (620546).|OMIM|N|
C2931009|Congenital disorders of glycosylation (CDG) are a group of hereditary multisystem disorders that are commonly associated with severe psychomotor and mental retardation. The characteristic biochemical abnormality of CDGs is the hypoglycosylation of glycoproteins, which is routinely determined by isoelectric focusing (IEF) of serum transferrin. Type I CDG comprises those disorders in which there is a defect in the assembly of lipid-linked oligosaccharides or their transfer onto nascent glycoproteins, whereas type II CDG comprises defects of trimming, elongation, and processing of protein-bound glycans (summary by Hansske et al., 2002).
For a general discussion of CDGs, see CDG1A (212065).|OMIM|N|
C2931010|CDG IIe is caused by a mutation that impairs the integrity of the conserved oligomeric Golgi (COG) complex and alters Golgi trafficking, resulting in the disruption of multiple glycosylation pathways.
For a general discussion of CDGs, see CDG1A (212065).|OMIM|N|
C2931011|An extremely rare form of carbohydrate deficient glycoprotein syndrome with, in the few cases reported to date, variable signs including microcephaly, growth retardation, psychomotor retardation and facial dysmorphism.|SNOMEDCT_US|N|
C2931013|Cystinosis comprises three allelic phenotypes: Nephropathic cystinosis in untreated children is characterized by renal Fanconi syndrome, poor growth, hypophosphatemic/calcipenic rickets, impaired glomerular function resulting in complete glomerular failure, and accumulation of cystine in almost all cells, leading to cellular dysfunction with tissue and organ impairment. The typical untreated child has short stature, rickets, and photophobia. Failure to thrive is generally noticed after approximately age six months; signs of renal tubular Fanconi syndrome (polyuria, polydipsia, dehydration, and acidosis) appear as early as age six months; corneal crystals can be present before age one year and are always present after age 16 months. Prior to the use of renal transplantation and cystine-depleting therapy, the life span in nephropathic cystinosis was no longer than ten years. With these interventions, affected individuals can survive at least into the mid-forties or fifties with satisfactory quality of life. Intermediate cystinosis is characterized by all the typical manifestations of nephropathic cystinosis, but onset is at a later age. Renal glomerular failure occurs in all untreated affected individuals, usually between ages 15 and 25 years. The non-nephropathic (ocular) form of cystinosis is characterized clinically only by photophobia resulting from corneal cystine crystal accumulation.|GeneReviews|N|
C2931014|A rare, genetic, renal malformation syndrome characterized by nephrotic syndrome with focal segmental sclerosis associated with hydrocephalus, thin skin and blue sclerae. There have been no further descriptions in the literature since 1978.|ORDO|N|
C2931019|Split-hand/foot malformation (SHFM) is a limb malformation involving the central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals. Some patients with SHFM1 have been found to have mental retardation, ectodermal and craniofacial findings, orofacial clefting (Elliott and Evans, 2006), and neurosensory hearing loss (Tackels-Horne et al., 2001).
Genetic Heterogeneity of Split-Hand/Foot Malformation
Additional SHFM loci include SHFM2 (313350) on chromosome Xq26; SHFM3 (246560), caused by duplication of chromosome 10q24; SHFM4 (605289), caused by mutation in the TP63 gene (603273) on chromosome 3q28; SHFM5 (606708) on chromosome 2q31; and SHFM6 (225300), caused by mutation in the WNT10B gene (601906) on chromosome 12q13.
Also see SHFM1D (220600) for a form of SHFM1 with deafness that may be caused by homozygous mutation in the DLX5 gene (600028).
Associations Pending Confirmation
For discussion of a possible association between split-hand/foot malformation and variation in the EPS15L1 gene, see 616826.0001.|OMIM|N|
C2931024|A rare syndromic neurological disorder characterized by the association of Möbius syndrome (congenital facial palsy with impaired ocular abduction) with peripheral axonal neuropathy and hypogonadotropic hypogonadism. There have been no further reports since 1996.|ORDO|N|
C2931026|A very rare ectodermal dysplasia syndrome with the association of choroidal atrophy (sometimes regional), together with other ectodermal dysplasia features including fine and sparse hair, absent or decreased lashes and eyebrows, and possibly mild visual loss and dysplastic/thick/grooved nails.|SNOMEDCT_US|N|
C2931029|A rare genetic capillary malformation characterized by dark red to purple birthmarks which manifest as flat, sharply circumscribed cutaneous lesions, typically situated in the head and neck region, in various members of a single family. The lesions grow proportionally with the individual, change in color and often thicken with age. There is evidence that congenital capillary malformations can be caused by somatic mosaic mutation in the GNAQ gene on chromosome 9q21.|SNOMEDCT_US|N|
C2931031|A benign proliferation of the stromal cells in the breast. It is classified as simple, when associated with the presence of slit-like spaces without erythrocytes and as fascicular/proliferative, when spindle cell proliferation without atypia is present. It is often seen in breast tissue specimens as small foci associated with benign epithelial lesions. Pseudoangiomatous stromal hyperplasia presenting as a well-circumscribed palpable mass is rare.|NCI|N|
C2931035|A rare, genetic, interstitial lung disease due to mutations in the CSF2R (colony-stimulating factor 2 receptor) alpha or beta subunits and characterized by alveolar accumulation of pulmonary surfactant, presenting a highly variable clinical presentation, ranging from asymptomatic to severe respiratory failure. Characteristic lung biopsy findings include periodic acid-Schiff-positive, granular eosinophilic material, enlarged foamy alveolar macrophages, and well-preserved alveolar walls. The Granulocyte-macrophage colony-stimulating factor (GM-CSF) receptor function is impaired but GM-CSF receptor autoantibodies are absent.|ORPHANET|N|
C2931038|Familial pancreatic carcinoma is defined by the presence of pancreatic cancer (PC) in two or more first-degree relatives.|ORDO|N|
C2931042|Hawkinsinuria (HWKS) is an autosomal dominant inborn error of metabolism. Metabolic acidosis and tyrosinemia are transient, and symptoms improve within the first year of life. Patients continue to excrete the hawkinsin metabolite in their urine throughout life (Danks et al., 1975; Tomoeda et al., 2000).|OMIM|N|
C2931046|A rare genetic multiple congenital anomalies syndrome with characteristics of congenital heart defects (for example coarctation of the aorta with or without atrioventricular canal and subaortic stenosis), associated with tongue hamartomas, postaxial hand polydactyly and toe syndactyly. There is evidence the disease is caused by compound heterozygous mutation in the WDPCP gene on chromosome 2p15.|SNOMEDCT_US|N|
C2931047|A rare, genetic, congenital limb malformation syndrome characterized by unilateral or bilateral fibular aplasia/hypoplasia, tibial campomelia, and lower limb oligosyndactyly involving the lateral rays. Upper limb oligosyndactyly and cleft lip/palate may also be associated.|ORDO|N|
C2931048|Greenberg dysplasia (GRBGD), also known as hydrops-ectopic calcification-moth-eaten (HEM) skeletal dysplasia, is a rare autosomal recessive osteochondrodysplasia characterized by gross fetal hydrops, severe shortening of all long bones with a moth-eaten radiographic appearance, platyspondyly, disorganization of chondroosseous calcification, and ectopic ossification centers. It is lethal in utero. Patient fibroblasts show increased levels of cholesta-8,14-dien-3-beta-ol, suggesting a defect of sterol metabolism (summary by Konstantinidou et al., 2008).
Herman (2003) reviewed the cholesterol biosynthetic pathway and 6 disorders involving enzyme defects in postsqualene cholesterol biosynthesis: Smith-Lemli-Opitz syndrome (SLOS; 270400), desmosterolosis (602398), X-linked dominant chondrodysplasia punctata (CDPX2; 302960), CHILD syndrome (308050), lathosterolosis (607330), and HEM skeletal dysplasia.|OMIM|N|
C2931051|The association of camptodactyly, multiple eye defects (fibrosis of the medial rectus muscle, severe myopia, ptosis and exophthalmos), scoliosis, flexion contractures and facial anomalies (arched eyebrows, facial asymmetry with an abnormal skull shape, a prominent nose, small mouth, low-set and dysplastic ears, and a low nuchal hairline). Only four cases have been reported in the literature so far. The mode of inheritance remains to be confirmed, but both autosomal dominant and recessive transmission have been considered.|SNOMEDCT_US|N|
C2931053|A clinical entity that can present as variable anomalies of the caudal pole. It has been described in four siblings and their father''s half-sister. The first sibling had aberrant umbilical cord vasculature with a single umbilical artery near the placental insertion. Two of the siblings showed full sirenomelia, one with a complex congenital heart defect. The fourth case had an imperforate anus and an excessively long umbilical cord. The half-sister had an imperforate anus, rectovaginal fistula and genitourinary anomalies. The syndrome appears to be expressed as a dominant trait with reduced penetrance and variable expressivity.|SNOMEDCT_US|N|
C2931058|A rare autosomal dominant inherited disorder of connective tissue caused by mutations in either the TGFBR1 or TGFBR2 gene. Like Loeys-Dietz syndrome type I the disease is characterized by enlargement of the aorta and other arteries, and arterial tortuosity, but skeletal signs are typically less severe or absent in type 2. Skin abnormalities, such as velvety skin are often present in type 2.|NCI|N|
C2931059|A rare autosomal dominant hair loss disorder characterized by the absence or scarcity of scalp hair, eyebrows, and eyelashes at birth; coarse and wiry hair during childhood; and progressive hair loss beginning around puberty.|ORDO|N|
C2931060|Syndrome with characteristics of skeletal dysplasia associated with finger malformations (brachydactyly with short and abducted thumbs, short index fingers, and markedly short and abducted great toes), variable mild short stature and mild bowleg with overgrowth of the fibula. It has been described in two males, their mothers, and a maternal aunt. Females are less severely affected than males. X-linked dominant inheritance is suggested.|SNOMEDCT_US|N|
C2931064|The association of Pierre Robin sequence (retrognathia, cleft palate and glossoptosis), facial dysmorphism (high forehead with frontal bossing) and digital anomalies (tapering fingers, hyper convex nails, clinodactyly of the fifth fingers and short distal phalanges, finger-like thumbs and easily subluxated first metacarpophalangeal joints). Growth and mental development are normal. It has been described in two half brothers born to the same mother. Transmission appears to be X-linked recessive.|SNOMEDCT_US|N|
C2931067|Any progressive familial intrahepatic cholestasis in which the cause of the disease is a mutation in the TJP2 gene.|MONDO|N|
C2931070|This syndrome has characteristics of nephrogenic diabetes insipidus, intracerebral calcifications, intellectual deficit, short stature and facial dysmorphism. It has been described in two siblings.|SNOMEDCT_US|N|
C2931071|A very rare disorder with characteristics of autoimmunity, lymphadenopathy and/or splenomegaly. The prevalence is not known. The disorder has been reported in fewer than 30 patients to date. Age of onset is highly variable, ranging from childhood to young adulthood. A possible increased risk of cancer has been suggested in these patients. The cause is not known but it is thought to be hereditary. Biologically, DALD has characteristics of normal double-negative T-cells (DNTs) and defective in vitro FAS-mediated apoptosis. The pattern of inheritance of DALD is not known.|SNOMEDCT_US|N|
C2931072|Epidermolysis bullosa simplex (EBS) is characterized by fragility of the skin (and mucosal epithelia in some instances) that results in non-scarring blisters and erosions caused by minor mechanical trauma. EBS is distinguished from other types of epidermolysis bullosa (EB) or non-EB skin fragility syndromes by the location of the blistering in relation to the dermal-epidermal junction. In EBS, blistering occurs within basal keratinocytes. The severity of blistering ranges from limited to hands and feet to widespread involvement. Additional features can include hyperkeratosis of the palms and soles (keratoderma), nail dystrophy, milia, and hyper- and/or hypopigmentation. Rare EBS subtypes have been associated with additional clinical features including pyloric atresia, muscular dystrophy, cardiomyopathy, and/or nephropathy.|GeneReviews|N|
C2931073|Any disease or disorder in which the cause of the disease is a mutation in the COL2A1 gene.|MONDO|N|
C2931076|An n-of-1 disease characterized by hearing loss, almost white hair, a psoriasiform rash with hyperkaratotic papillomata, muscle contractures, and depressed granulocyte and monocyte chemotaxis, dominant hearing loss, white hair, contractures, hyperkeratotic papillomata, and muscle contractures, and depressed granulocyte and monocyte chemotaxis. This is an n-of-1 use case where only one patient or family has been described with this disorder.|MONDO|N|
C2931080|Lowe-Kohn-Cohen syndrome is an extremely rare anorectal malformation syndrome characterized by imperforate anus, closed ano-perineal fistula, preauricular skin tag and absent renal abnormalities and pre-axial limb deformities. There have been no further descriptions in the literature since 1983.|ORDO|N|
C2931089|A form of blepharo-cheilo-dontic syndrome with with cleft lip and palate, complete absence of deciduous teeth, hypodontia of permanent teeth, hair alterations, hypertelorism, midface hypoplasia, abnormal EEG, syndactyly, and other findings. This is an n-of-1 use case where only one patient or family has been described with this disorder.|MONDO|N|
C2931092|A rare subtype of Leigh syndrome with clinical characteristics of encephalopathy, lactic acidosis, seizures, cardiomyopathy, respiratory disorders and developmental delay. Onset in infancy or early childhood resulting from maternally-inherited mutations in mitochondrial DNA.|SNOMEDCT_US|N|
C2931093|Osteogenesis imperfecta (OI) is a connective tissue disorder characterized by bone fragility and low bone mass. Due to considerable phenotypic variability, Sillence et al. (1979) developed a classification of OI subtypes based on clinical features and disease severity: OI type I, with blue sclerae (166200); perinatal lethal OI type II, also known as congenital OI (166210); OI type III, a progressively deforming form with normal sclerae (259420); and OI type IV, with normal sclerae (166220). Most forms of OI are autosomal dominant with mutations in one of the 2 genes that code for type I collagen alpha chains, COL1A1 (120150) and COL1A2 (120160).
Glorieux et al. (2000) described a novel autosomal dominant form of OI, which they designated OI type V (OI5), in 7 patients. The disorder was similar to OI type IV but had distinctive clinical, histologic, and molecular characteristics. OI type V is characterized by calcification of the forearm interosseous membrane, radial head dislocation, a subphyseal metaphyseal radiodense line, and hyperplastic callus formation (summary by Cho et al., 2012). OI type V has a variable phenotype. For example, in patients with the more common c.-14C-T variant (614757.0001), distinctive radiographic findings (calcification of the forearm interosseous membrane, radial head dislocation, a subphyseal metaphyseal radiodense line, and hyperplastic callus formation) are often seen, whereas these findings are not seen in patients with the less common S40L variant (614757.0002).|OMIM|N|
C2931096|Syndrome with characteristics of the association of osteopathia striata (longitudinal striations through most of the long bones) with a macular hyperpigmented dermopathy and a white forelock. It has been observed in a woman and her two daughters, whereas her son is unaffected. X-linked or autosomal dominant inheritance is proposed.|SNOMEDCT_US|N|
C2931104|A severe fetal malformation syndrome with characteristics of craniofacial dysmorphic features, central nervous system, cardiac, respiratory tract and limb abnormalities. Mostly present in families of Finnish descent. The syndrome also has characteristics of postaxial and preaxial polydactyly. Caused by mutations in HYLS1 (11q24.2) and KIF7 (15q26.1). Inheritance is autosomal recessive. Stillbirth or neonatal death is the rule, although rare cases with several months of survival have been reported.|SNOMEDCT_US|N|
C2931107|Congenital myasthenic syndromes (CMS) are a group of inherited disorders affecting the neuromuscular junction (NMJ). Patients present clinically with onset of variable muscle weakness between infancy and adulthood. These disorders have been classified according to the location of the defect: presynaptic, synaptic, and postsynaptic, as well as by pathologic mechanism and electrophysiologic studies (i.e., acetylcholine receptor (AChR) deficiency, slow-channel or fast-channel kinetic defects at the AChR) (summary by Engel et al., 2003; Engel et al., 2015). Approximately 10% of CMS cases are presynaptic, 15% are synaptic, and 75% are postsynaptic, the majority of which are caused by AChR deficiency (Engel et al., 2003).
Slow-channel congenital myasthenic syndrome (SCCMS) is a disorder of the postsynaptic NMJ characterized by early-onset progressive muscle weakness. The disorder results from kinetic abnormalities of the AChR channel, specifically prolonged opening and activity of the channel, which causes prolonged synaptic currents resulting in a depolarization block. This is associated with calcium overload, which may contribute to subsequent degeneration of the endplate and postsynaptic membrane. Treatment with quinine, quinidine, or fluoxetine may be helpful; acetylcholinesterase inhibitors and amifampridine should be avoided (summary by Engel et al., 2015).
Genetic Heterogeneity of Congenital Myasthenic Syndromes
Recessive mutations in subunits of the acetylcholine receptor are the most common cause of CMS (Harper, 2004). CMS1A and CMS1B (608930) are caused by mutation in the CHRNA1 gene (100690); CMS2A (616313) and CMS2C (616314) are caused by mutation in the CHRNB1 gene (100710) on 17p12; CMS3A (616321), CMS3B (616322), and CMS3C (616323) are caused by mutation in the CHRND gene (100720) on 2q33; and CMS4A (605809), CMS4B (616324), and CMS4C (608931) are caused by mutation in the CHRNE gene (100725) on 17p13.
CMS5 (603034) is caused by mutation in the COLQ gene (603033) on 3p25; CMS6 (254210) is caused by mutation in the CHAT gene (118490) on 10q; CMS7 (616040) is caused by mutation in the SYT2 gene (600104) on 1q32; CMS8 (615120) is caused by mutation in the AGRN gene (103320) on 1p; CMS9 (616325) is caused by mutation in the MUSK gene (601296) on 9q31; CMS10 (254300) is caused by mutation in the DOK7 gene (610285) on 4p; CMS11 (616326) is caused by mutation in the RAPSN gene (601592) on 11p11; CMS12 (610542) is caused by mutation in the GFPT1 gene (138292) on 2p14; CMS13 (614750) is caused by mutation in the DPAGT1 gene (191350) on 11q23; CMS14 (616228) is caused by mutation in the ALG2 gene (607905) on 9q22; CMS15 (616227) is caused by mutation in the ALG14 gene (612866) on 1p21; CMS16 (614198) is caused by mutation in the SCN4A gene (603967) on 17q; CMS17 (616304) is caused by mutation in the LRP4 gene (604270) on 11p12; CMS18 (616330) is caused by mutation in the SNAP25 gene (600322) on 20p11; CMS19 (616720) is caused by mutation in the COL13A1 gene (120350) on 10q22; CMS20 (617143) is caused by mutation in the SLC5A7 gene (608761) on 2q12; CMS21 (617239) is caused by mutation in the SLC18A3 gene (600336) on 10q11; CMS22 (616224) is caused by mutation in the PREPL gene (609557) on 2p21; CMS23 (618197) is caused by mutation in the SLC25A1 gene (190315) on 22q11; CMS24 (618198) is caused by mutation in the MYO9A gene (604875) on 15q22; and CMS25 (618323) is caused by mutation in the VAMP1 gene (185880) on 12p13.|OMIM|N|
C2931112|Myostatin-related muscle hypertrophy is a rare condition characterized by reduced body fat and increased muscle size.  Affected individuals have up to twice the usual amount of muscle mass in their bodies.  They also tend to have increased muscle strength.  Myostatin-related muscle hypertrophy is not known to cause any medical problems, and affected individuals are intellectually normal.|MedlinePlus Genetics|N|
C2931115|This syndrome is characterised by anomalies of the lens (ectopia and cataracts) and retina (generalised tapetoretinal dystrophy and total retinal detachment). Myopia has also been reported. It has been described in four members of the same family all resulting from a consanguineous marriage. The mode of transmission is autosomal recessive.|SNOMEDCT_US|N|
C2931117|Fetal megacystis is an abnormally enlarged bladder identified at any gestational age.|HPO|N|
C2931119|This syndrome is extremely rare and has characteristics of delayed speech development, mild facial asymmetry, strabismus and transverse ear lobe creases. To date, six cases have been reported in five families. Dysmorphic features include asymmetrical face, unilateral narrow palpebral fissure, divergent strabismus, long philtrum, high-arched palate, apparently low-set ears and transverse ear lobe creases on both sides. Delayed language development is constant but intellectual development can be normal. In one family, the transmission was compatible with either autosomal dominant or X-linked dominant inheritance.|SNOMEDCT_US|N|
C2931122|Striate palmoplantar keratoderma belongs to a group of skin diseases in which there is thickening of the skin on the palms and soles. The striate form is characterized by longitudinal hyperkeratotic lesions extending the length of each finger to the palm, and hyperkeratotic lesions are restricted to regions of the body where pressure and abrasion are greatest (summary by Hunt et al., 2001). Patients with diffuse or focal forms of keratoderma associated with mutation in the DSG1 gene have also been reported (Keren et al., 2005; Milingou et al., 2006).
Genetic Heterogeneity of Keratosis Palmoplantaris Striata
Type II PPKS (PPKS2; 612908) is caused by mutation in the DSP gene (125647) on chromosome 6.
Type III PPKS (PPKS3; 607654) is caused by mutation in the keratin-1 gene (KRT1; 139350) on chromosome 12q.
For a general phenotypic description and a discussion of genetic heterogeneity of palmoplantar keratoderma (PPK), see epidermolytic PPK (144200).
Nitoiu et al. (2014) reviewed desmosome biology in cardiocutaneous syndromes and inherited skin disease, including discussion of the involvement of the DSG1 and DSP genes.|OMIM|N|
C2931123|Any striate palmoplantar keratoderma in which the cause of the disease is a mutation in the KRT1 gene.|MONDO|N|
C2931125|This syndrome has characteristics of sensorineural deafness, diabetes mellitus, progressive neurological deterioration with photomyoclonic epilepsy, and progressive nephropathy. It has been described in two brothers. Premature atherosclerosis of renal, coronary, and cerebral arteries and the aorta was also observed.|SNOMEDCT_US|N|
C2931129|A very rare syndrome with the combination of microcephaly, heart defects, renal hypoplasia, lung segmentation defects and cleft palate. It has been described in three female siblings. Dysmorphic features were not characteristic. The condition seems to be hereditary, and transmitted as an autosomal recessive trait. Prognosis is poor and all children died in infancy.|SNOMEDCT_US|N|
C2931130|A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, obesity, macrocephaly, behavioral abnormalities (such as aggressive tantrums and autistic-like behavior), and delayed speech development. Dysmorphic facial features include large, square forehead, prominent supraorbital ridges, broad nasal tip, large ears, prominent lower lip, and minor dental anomalies such as small upper lateral incisors and central incisor gap.|ORPHANET|N|
C2931132|The hereditary hyperbilirubinemias include (1) those resulting in predominantly unconjugated hyperbilirubinemia: Gilbert or Arias syndrome, Crigler-Najjar syndrome type I, and Crigler-Najjar syndrome type II; and (2) those resulting in predominantly conjugated hyperbilirubinemia: Dubin-Johnson syndrome (237500), Rotor syndrome (237450), and several forms of intrahepatic cholestasis (147480, 211600, 214950, 243300) (Wolkoff et al., 1983). Detailed studies show that patients with Crigler-Najjar syndrome type II have reduced activity of bilirubin glucuronosyltransferase (Labrune et al., 1989, Seppen et al., 1994).|OMIM|N|
C2931137|Bobble-head doll syndrome (BHDS) is a rare neurological condition thatis typically first seen in childhood. The signs and symptoms of BHDS includecharacteristic up and downhead movements that increase during walking and excitement and decrease during concentration.Although the specific cause of this condition is unknown, BHDS is often seen with cysts in the third ventricle of the brain that alsocause hydrocephalus (water on the brain). Treatment for BHDS may involve surgical removal of the cyst causing the condition or using a shunt to drain excess water on the brain.|MONDO|N|
C2931140|Morquio syndrome is an autosomal recessive mucopolysaccharidosis characterized by short trunk dwarfism, fine corneal opacities, skeletal changes, and normal intelligence.
Morquio syndromes A (MPS4A; 253000) and B (MPS4B; 253010) are caused by mutations in the N-acetylglucosamine-6-sulfate sulfatase (GALNS; 612222) and beta-galactosidase (GLB1; 611458) genes, respectively. MPS4A and MPS4B are characterized biochemically by increased urinary excretion of keratan sulfate (Beck et al., 1986).
There is some evidence of an additional form of Morquio syndrome, referred to here as type C, in which urinary excretion of keratan sulfate is absent. However, McKusick (1972) suggested that the nonkeratosulfate- excreting Morquio syndrome may be allelic to other forms of Morquio syndrome.|OMIM|N|
C2931142|This syndrome is characterised principally by non-progressive central hypotonia, chronic constipation, severe psychomotor retardation, abnormal dermatoglyphics, dysharmonic skeletal maturation and disproportionate muscle fibres. Seizures or an abnormal electroencephalograph were also reported. To date, the syndrome has been reported in three unrelated Puerto Rican boys.|SNOMEDCT_US|N|
C2931146|A rare developmental defect during embryogenesis with characteristics of variable upper limb reduction defects and renal anomalies. Patients typically present absence/hypoplasia of digits, radii and/or ulnae, short stature and mild external ear malformation, as well as kidney agenesis or ectopia. There have been no further descriptions in the literature since 1983.|SNOMEDCT_US|N|
C2931150|Premature fusion of one of the coronal sutures.|MSH|N|
C2931161|Immunoglobulin (Ig) A deficiency (IGAD) is characterized by decreased or absent levels of serum IgA in the presence of normal serum levels of IgG and IgM in a patient older than 4 years of age in whom other causes of hypogammaglobulinemia have been excluded. IgA in the dimeric form is the dominant immunoglobulin in luminal secretions, such as saliva, tears, bronchial secretions, nasal mucosal secretions, and mucous secretions of the small intestine. Individuals with selective IgA deficiency may be asymptomatic or have recurrent sinopulmonary and gastrointestinal infections, allergic disorders, and autoimmune disorders. The diagnosis of IgA deficiency depends on the measurement of monomeric IgA concentrations in serum; thus individuals with IgA deficiency may have IgA in mucosal systems, which may offer some protection (review by Yel, 2010).
Genetic Heterogeneity of IgA Deficiency
The IGAD1 locus maps to chromosome 6p21. See also IGAD2 (609529), which is caused by mutation in the TNFRSF13B gene (604907) on chromosome 17p11.|OMIM|N|
C2931167|Fetopathy likely to occur when a pregnant woman is infected by parvovirus B19. In adults, the virus causes a butterfly erythema infectiosum (also called Fifth Disease; ''slapped cheek disease'') and flu-like symptoms with symmetric polyarthralgias.|SNOMEDCT_US|N|
C2931171|Oligoarticular juvenile idiopathic arthritis (JIA) affects between one and up to a maximum of four joints.|SNOMEDCT_US|N|
C2931177|This syndrome has characteristics of profound intellectual deficit in association with microcephaly, short stature, brachydactyly type D, a flattened occiput, downslanting palpebral fissures, low-set large ears, a broad prominent nose and kyphoscoliosis. It has been described in three sisters. The disorder is likely to be transmitted as an autosomal recessive trait.|SNOMEDCT_US|N|
C2931183|A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of facial dysmorphism (mild eyelid ptosis, xanthelasma, anteverted nostrils, bifid nasal tip, short palate), severe muscle wasting and cachexia, retinitis pigmentosa, numerous lentigines and cafe-au-lait spots, as well as mild soft tissue syndactyly. Additional features include nasal speech, chest asymmetry, pectus excavatum, genu varum, pes planus, and thyroid papillary carcinoma and diffuse enlargement. There has been no further description in the literature since 1984.|SNOMEDCT_US|N|
C2931187|Cystinosis comprises three allelic phenotypes: Nephropathic cystinosis in untreated children is characterized by renal Fanconi syndrome, poor growth, hypophosphatemic/calcipenic rickets, impaired glomerular function resulting in complete glomerular failure, and accumulation of cystine in almost all cells, leading to cellular dysfunction with tissue and organ impairment. The typical untreated child has short stature, rickets, and photophobia. Failure to thrive is generally noticed after approximately age six months; signs of renal tubular Fanconi syndrome (polyuria, polydipsia, dehydration, and acidosis) appear as early as age six months; corneal crystals can be present before age one year and are always present after age 16 months. Prior to the use of renal transplantation and cystine-depleting therapy, the life span in nephropathic cystinosis was no longer than ten years. With these interventions, affected individuals can survive at least into the mid-forties or fifties with satisfactory quality of life. Intermediate cystinosis is characterized by all the typical manifestations of nephropathic cystinosis, but onset is at a later age. Renal glomerular failure occurs in all untreated affected individuals, usually between ages 15 and 25 years. The non-nephropathic (ocular) form of cystinosis is characterized clinically only by photophobia resulting from corneal cystine crystal accumulation.|GeneReviews|N|
C2931197|This syndrome has principal characteristics of by Sprengel anomaly (upward displacement of the scapula) and hydrocephaly. Other anomalies such as psychomotor retardation, psychosis, brachydactyly and costovertebral dysplasia may also be present. The syndrome has been described in eight female patients. The mode of transmission has not been firmly established but appears to be either autosomal or X-linked dominant.|SNOMEDCT_US|N|
C2931201|A rare bladder adenocarcinoma that develops from the urachal remnant.|NCI|N|
C2931202|A rare variant of carcinoma of the urachal remnant of bladder.|NCI|N|
C2931206|People with Usher syndrome type III experience hearing loss and vision loss beginning somewhat later in life. Unlike the other forms of Usher syndrome, type III is usually associated with normal hearing at birth. Hearing loss typically begins during late childhood or adolescence, after the development of speech, and becomes more severe over time. By middle age, most affected individuals have profound hearing loss. Vision loss caused by retinitis pigmentosa also develops in late childhood or adolescence. Some people with Usher syndrome type III develop vestibular abnormalities that cause problems with balance.\n\nUsher syndrome is a condition characterized by partial or total hearing loss and vision loss that worsens over time. The hearing loss is classified as sensorineural, which means that it is caused by abnormalities of the inner ear. The loss of vision is caused by an eye disease called retinitis pigmentosa (RP), which affects the layer of light-sensitive tissue at the back of the eye (the retina). Vision loss occurs as the light-sensing cells of the retina gradually break down. Loss of night vision begins first, followed by blind spots that develop in the side (peripheral) vision. Over time, these blind spots enlarge and merge to produce tunnel vision. In some cases, vision is further impaired by clouding of the lens of the eye (cataracts). However, many people with retinitis pigmentosa retain some central vision throughout their lives.\n\nResearchers have identified three major types of Usher syndrome, designated as types I, II, and III. These types are distinguished by the severity of hearing loss, the presence or absence of balance problems, and the age at which signs and symptoms appear. The types are further divided into subtypes based on their genetic cause.\n\nMost individuals with Usher syndrome type I are born with severe to profound hearing loss. Worsening vision loss caused by retinitis pigmentosa becomes apparent in childhood. This type of Usher syndrome also causes abnormalities of the vestibular system, which is the part of the inner ear that helps maintain the body's balance and orientation in space. As a result of the vestibular abnormalities, children with the condition have trouble with balance. They begin sitting independently and walking later than usual, and they may have difficulty riding a bicycle and playing certain sports.\n\nUsher syndrome type II is characterized by hearing loss from birth and progressive vision loss that begins in adolescence or adulthood. The hearing loss associated with this form of Usher syndrome ranges from mild to severe and mainly affects the ability to hear high-frequency sounds. For example, it is difficult for affected individuals to hear high, soft speech sounds, such as those of the letters d and t. The degree of hearing loss varies within and among families with this condition, and it may become more severe over time. Unlike the other forms of Usher syndrome, type II is not associated with vestibular abnormalities that cause difficulties with balance.|MedlinePlus Genetics|N|
C2931213|Usher syndrome type II (USH2) is characterized by the following: Congenital, bilateral sensorineural hearing loss that is mild to moderate in the low frequencies and severe to profound in the higher frequencies. Intact or variable vestibular responses. Retinitis pigmentosa (RP); progressive, bilateral, symmetric retinal degeneration that begins with night blindness and constricted visual fields (tunnel vision) and eventually includes decreased central visual acuity; the rate and degree of vision loss vary within and among families.|GeneReviews|N|
C2931216|Amelia of all four limbs.|HPO|N|
C2931218|An extremely rare mostly lethal congenital disorder with characteristics of absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of Middle Eastern descent.|SNOMEDCT_US|N|
C2931219|A rare genetic lethal multiple congenital anomalies/dysmorphic syndrome with characteristics of facial dysmorphism (including long, downward slanting palpebral fissures, hypertelorism, posteriorly rotated ears, broad nasal bridge, short nose with a bulbous tip and anteverted nares, downturned corners of the mouth) as well as vertebral (occult spina bifida, hemivertebrae), brain (ventricular dilatation, agenesis of corpus callosum), cardiac (tetralogy of Fallot, ventricular septal defect) and gastrointestinal (short oesophagus with intrathoracic stomach, small intestine, spleen and pancreas, anal atresia) malformations. There have been no further descriptions in the literature since 1991.|SNOMEDCT_US|N|
C2931224|A rare lethal multiple congenital anomalies/dysmorphic syndrome with the association of fetal akinesia sequence, bilateral microphthalmia, microtia and persistent truncus arteriosus. Additional dysmorphic features include prominent forehead, small nose, micrognathia, as well as camptodactyly and symphalangism. Contractures of large joints and micropenis have also been reported.|SNOMEDCT_US|N|
C2931225|Thomas syndrome has characteristics of renal anomalies, cardiac malformations and cleft lip or palate. It has been described in six patients. Transmission was suggested to be autosomal recessive.|SNOMEDCT_US|N|
C2931226|A rare syndromic intellectual disability characterised by early developmental delay with failure to thrive, intellectual disability, congenital hepatic fibrosis, renal cystic dysplasia, and dysmorphic facial features (bilateral ptosis, anteverted nostrils, high arched palate, and micrognathia). Variable additional features have been reported, including cerebellar anomalies, postaxial polydactyly, syndactyly, genital anomalies, tachypnoea. There have been no further descriptions in the literature since 1987.|SNOMEDCT_US|N|
C2931228|VACTERL is an acronym for vertebral anomalies (similar to those of spondylocostal dysplasia), anal atresia, cardiac malformations, tracheoesophageal fistula, renal anomalies (urethral atresia with hydronephrosis), and limb anomalies (hexadactyly, humeral hypoplasia, radial aplasia, and proximally placed thumb; see 192350). Some patients may have hydrocephalus, which is referred to as VACTERL-H (Briard et al., 1984).|OMIM|N|
C2931230|Infantile-onset autophagic vacuolar myopathy is characterized by increased cardiac and skeletal muscle glycogen with normal acid maltase (GAA; 606800). Skeletal muscle biopsy shows characteristic intracytoplasmic vacuoles that stain for sarcolemmal proteins and complement proteins.
Similar pathologic findings are seen in Danon disease (300257), caused by mutation in the LAMP2 gene (309060) on chromosome Xq24, and X-linked myopathy with excessive autophagy (XMEA; 310440), which has been mapped to Xq28.|OMIM|N|
C2931233|A rare association of malformations described in only three patients including two siblings. The first patient had profound intellectual deficit and clinical features including short stature, coarse face, deep-set eyes, microphthalmia, large ears, gynoid obesity, imperforate anus, sacral spina bifida, pseudovaginal perineoscrotal hypospadias, persistence of Mullerian structures, and low gonadotrophin levels. His XY sibling was raised as a girl, was slightly mentally impaired and had microphthalmia and large ears and short stature. The third patient had severe hearing loss, ocular colobomata, hypogonadism of central origin, distinct craniofacial features and skeletal anomalies with cervical spina bifida, hyperkyphosis and thoracic deformity. All patients had a normal 46, XY karyotype. Inheritance could be either autosomal recessive or X-linked.|SNOMEDCT_US|N|
C2931238|A form of triphalangeal thumb that cannot be placed opposite the fingers of the same hand.|HPO|N|
C2931241|A rare intestinal disease characterized by dilated intestinal lacteals which cause lymph leakage into the small bowel lumen. Clinical manifestations include edema related to hypoalbuminemia (protein-losing gastro-enteropathy), asthenia, moderate diarrhea, lymphedema, serous effusion and failure to thrive in children.|ORDO|N|
C2931243|An extremely rare autosomal dominant developmental defect of the eye described in several members of one family with characteristics of the association of moderate intellectual disability with aniridia, lens dislocation, optic nerve hypoplasia and cataracts. There have been no further descriptions in the literature since 1974.|SNOMEDCT_US|N|
C2931244|Craniometaphyseal dysplasia is an osteochondrodysplasia characterized by hyperostosis and sclerosis of the craniofacial bones associated with abnormal modeling of the metaphyses. Sclerosis of the skull may lead to asymmetry of the mandible, as well as to cranial nerve compression, that may finally result in hearing loss and facial palsy (summary by Nurnberg et al., 1997).
The delineation of separate autosomal dominant (CMDD; 123000) and autosomal recessive forms of CMD by Gorlin et al. (1969) was confirmed by reports that made it evident that the dominant form is relatively mild and comparatively common, whereas the recessive form is rare, severe, and possibly heterogeneous.|OMIM|N|
C2931245|A familial or acquired bone marrow failure syndrome.|NCI|N|
C2931246|Potocki-Lupski syndrome (PTLS) is characterized by cognitive, behavioral, and medical manifestations. Cognitively, most individuals present with developmental delay, later meeting criteria for moderate intellectual disability. Behaviorally, issues with attention, hyperactivity, withdrawal, and anxiety may be seen. Some individuals meet criteria for autism spectrum disorder. Medically, hypotonia, oropharyngeal dysphagia leading to failure to thrive, congenital heart disease, hypoglycemia associated with growth hormone deficiency, and mildly dysmorphic facial features are observed. Medical manifestations typically lead to identification of PTLS in infancy; however, those with only behavioral and cognitive manifestations may be identified in later childhood.|GeneReviews|N|
C2931255|An autosomal recessive, oculo-reno-skeletal syndrome characterized by bilateral atypical macular coloboma, familial juvenile nephronophthisis and mesomelic skeletal dysplasia of upper limbs with bilateral radiohumeral fusion.|MONDO|N|
C2931258|Leber congenital amaurosis, also known as LCA, is an eye disorder that is present from birth (congenital). This condition primarily affects the retina, which is the specialized tissue at the back of the eye that detects light and color. People with this disorder typically have severe visual impairment beginning at birth or shortly afterward. The visual impairment tends to be severe and may worsen over time.\n\nLeber congenital amaurosis is also associated with other vision problems, including an increased sensitivity to light (photophobia), involuntary movements of the eyes (nystagmus), and extreme farsightedness (hyperopia). The pupils, which usually expand and contract in response to the amount of light entering the eye, do not react normally to light. Instead, they expand and contract more slowly than normal, or they may not respond to light at all.\n\nA specific behavior called Franceschetti's oculo-digital sign is characteristic of Leber congenital amaurosis. This sign consists of affected individuals poking, pressing, and rubbing their eyes with a knuckle or finger. Poking their eyes often results in the sensation of flashes of light called phosphenes. Researchers suspect that this behavior may contribute to deep-set eyes in affected children.\n\nAt least 20 genetic types of Leber congenital amaurosis have been described. The types are distinguished by their genetic cause, patterns of vision loss, and related eye abnormalities.\n\nIn very rare cases, delayed development and intellectual disability have been reported in people with the features of Leber congenital amaurosis. Because of the visual loss, affected children may become isolated. Providing children with opportunities to play, hear, touch, understand and other early educational interventions may prevent developmental delays in children with Leber congenital amaurosis.|MedlinePlus Genetics|N|
C2931263|A rare evolutive vascular malformation disorder characterised by closely clustered irregular dilated capillaries that can be asymptomatic or that can cause variable neurological manifestations such as seizures, non-specific headaches, progressive or transient focal neurologic deficits, and/or cerebral haemorrhages. To date, mutations in three genes have been demonstrated; KRIT1, CCM2 and PDCD10, located on chromosome 7q21.2, 7p13, and 3q26.1 respectively, which encode proteins that, among their various functions, modulate junction formation between vascular endothelial cells. Transmitted as an autosomal dominant trait with incomplete penetrance.|SNOMEDCT_US|N|
C2931267|Syndrome with characteristics of unusual facial features, microcephaly, developmental delay, and severe postnatal growth retardation. It has been reported in two brothers born to normal parents. Additional features include hypogonadism, flexion contractures, hypoplastic patella, scoliosis, eczema and recurrent infections. The characteristic facies were marked by sloping forehead, beaked nose, large protruding ears and micrognathia. Low levels of serum gammaglobulins and defective chemotaxis were detected in both boys during infancy.|SNOMEDCT_US|N|
C2931268|A muscular dystrophy which begins at the lower legs and affects the shoulder region earlier and more severely than distal arm.|MONDO|N|
C2931269|An extremely rare multiple congenital abnormality syndrome, described in only three brothers to date, with the association of congenital cataract, sensorineural deafness, hypogonadism, mild intellectual deficit, hypertrichosis, and short stature. There have been no further descriptions in the literature since 1995.|SNOMEDCT_US|N|
C2931271|Describes the combination of two or more of the following anomalies: neural tube defects (e.g. anencephaly, encephalocele, spina bifida cystica), cleft lip and palate, omphalocele and congenital diaphragmatic hernia . These anomalies are associated at a higher frequency than would be expected with random combination rates.|SNOMEDCT_US|N|
C2931276|The spectrum of BSCL2-related neurologic disorders includes Silver syndrome and variants of Charcot-Marie-Tooth neuropathy type 2, distal hereditary motor neuropathy (dHMN) type V, and spastic paraplegia 17. Features of these disorders include onset of symptoms ranging from the first to the seventh decade, slow disease progression, upper motor neuron involvement (gait disturbance with pyramidal signs ranging from mild to severe spasticity with hyperreflexia in the lower limbs and variable extensor plantar responses), lower motor neuron involvement (amyotrophy of the peroneal muscles and small muscles of the hand), and pes cavus and other foot deformities. Disease severity is variable among and within families.|GeneReviews|N|
C2931279|Syndrome that has characteristics of loss of subcutaneous fat layers on the limbs, lipodystrophy in the face and trunk and scleroderma-like skin disorders (thickened skin on the palms and soles and skin pigment changes on the limbs and trunk). The syndrome has been described in only one family with three affected siblings. Other clinical signs are joint contractures, reduced relative body weight, a bird-like facial appearance with a beaked nose, and micrognathia. One sibling also showed insulin-resistant diabetes mellitus. The syndrome is due to a combined decreased action of insulin, insulin-like growth factor I (IGF-1) and epidermal growth factor (EGF). The disease shows common clinical characteristics with Werner syndrome.|SNOMEDCT_US|N|
C2931280|An extremely rare syndrome described in less than 20 families to date and has characteristics of total or partial alopecia associated with intellectual deficit. The syndrome can be associated with other anomalies such as seizures, sensorineural hearing loss, delayed psychomotor development, and/or hypertonia.|SNOMEDCT_US|N|
C2931285|This syndrome has characteristics of hypergonadotropic hypogonadism, intellectual deficit, and congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus. It has been described in two brothers. Testicular biopsy revealed germinal aplasia and complete seminiferous tubular fibrosis.|SNOMEDCT_US|N|
C2931290|A distal myopathy with characteristics of weakness in the distal upper extremities usually finger and wrist extensors which later progresses to all hand muscles and distal lower extremities primarily in toe and ankle extensors. This disease is mainly restricted to a geographical area around the Baltic Sea and is a late adult-onset disorder. Caused by a missense change (c.1362G>A; p.E384K) in TIA1 gene (2p13) which encodes nucleolysin TIA-1 isoform p40, a key component of stress granules. Inherited as an autosomal dominant trait.|SNOMEDCT_US|N|
C2931291|A chronic neurodegenerative disorder with features of spastic paraparesis (beginning at about 10 years of age) and hearing deficits. It has been described in affecting at least six male members spanning three generations of a large family. Some relatives presented with tremor, cataracts, sensory deficits, short stature, hypogonadism, elevated cerebrospinal fluid protein, and/or absent or prolonged somatosensory evoked potentials.|SNOMEDCT_US|N|
C2931292|A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of severe white matter hypoplasia, corpus callosum agenesis or extreme hypoplasia, severe intellectual disability, failure to thrive and minor midline facial dysmorphism (including hypertelorism, broad nasal root, micrognathia). There have been no further descriptions in the literature since 1993.|SNOMEDCT_US|N|
C2931293|A platelet granule disorder with manifestation of thrombocytopenia, increased mean platelet volumes, decreased platelet responsiveness to aggregating agents and significant defects in platelet ultrastructural morphology leading to prolonged bleeding times and bleeding.|SNOMEDCT_US|N|
C2931296|This syndrome has characteristics of partial pancreatic agenesis, diabetes mellitus, and heart anomalies (including transposition of the great vessels, ventricular or atrial septal defects, pulmonary stenosis, or patent ductus arteriosis). It has been described in one Japanese family, in which the mother and at least two of her four children were affected (another two children died shortly after birth). The syndrome appears to be inherited as an autosomal dominant trait.|SNOMEDCT_US|N|
C2931299|A very rare, severe, genetic, combined immunodeficiency disorder with characteristics of lymphocytosis, decreased peripheral CD8+ T-cells, and presence of normal circulating CD4+ T-cells, leading to immune dysfunction.|SNOMEDCT_US|N|
C2931302|A rare multiple congenital anomalies syndrome with characteristics of relative macrocephaly, pectus excavatum, short stature, nail dysplasia, and motor developmental delay (that resolves during childhood). There have been no further descriptions in the literature since 1992.|SNOMEDCT_US|N|
C2931317|The subclinical or symptomatic stage of syphilis, occurring at an average of three weeks after contact with an infected individual. It manifests with one or more painless, indurated ulcers (chancres) of the skin or mucous membranes at the site of inoculation. These lesions heal spontaneously within a few weeks.|NCI|N|
C2931322|An abnormally low count of T cells.|HPO|N|
C2931323|An extremely rare type of heart-hand syndrome. Described in two families to date, with characteristics of upper limb malformations (brachytelephalangy type D, hypoplastic deltoids, mild shortening of the fourth and fifth metacarpals in some individuals, skeletal anomalies in the humerus, radius, ulnae, and thenar bones) and cardiac arrhythmias (junctional rhythms and atrial fibrillation).|SNOMEDCT_US|N|
C2931324|Trisomy 21 characterized by the presence of an extra chromosome 21 in some of the cells of the organism.|MONDO|N|
C2931326|Mosaic trisomy 22 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by prenatal and postnatal growth delay, mild to severe intellectual disability, hemiatrophy, webbed neck, ocular and cutaneous pigmentary anomalies, craniofacial dysmorphic features (e.g. microcephaly, upslanted palpebral fissures, ptosis, ear malformations, flat nasal bridge, micrognathia) and cardiac abnormalities (including ventricular and atrial septal defect, pulmonary or aortic stenosis). Hearing loss and limb malformations (e.g. cubitus valgus, syn/brachydactyly), as well as renal and genital anomalies, have also been reported.|ORDO|N|
C2931327|A rare chromosomal anomaly syndrome with a highly variable phenotype. Principle characteristics are prenatal and postnatal growth delay, mild to severe intellectual disability, hemiatrophy, webbed neck, ocular and cutaneous pigmentary anomalies, craniofacial dysmorphic features (microcephaly, upslanted palpebral fissures, ptosis, ear malformations, flat nasal bridge, micrognathia) and cardiac abnormalities (including ventricular and atrial septal defect, pulmonary or aortic stenosis). Hearing loss and limb malformations (cubitus valgus, syn/brachydactyly), renal and genital anomalies have also been reported.|SNOMEDCT_US|N|
C2931338|A rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 3. Phenotype can be highly variable, but it primarily has characteristics of significant developmental delay, postnatal growth above the mean, muscular hypotonia and distinctive facial features (such as broad and prominent forehead, hypertelorism, epicanthic folds, ptosis, short philtrum, protruding lips with a full lower lip, high arched palate). Abnormal hypoplastic male genitalia and skeletal abnormalities are frequently present.|SNOMEDCT_US|N|
C2931345|Any glycogen storage disease due to glucose-6-phosphatase deficiency in which the cause of the disease is a mutation in the SLC37A4 gene.|MONDO|N|
C2931355|Spastic paraplegia 3A (SPG3A; also known as ATL1-HSP) is characterized by progressive bilateral and mostly symmetric spasticity and weakness of the legs. Compared to other forms of autosomal dominant hereditary spastic paraplegia (HSP), in which diminished vibration sense (caused by degeneration of the corticospinal tracts and dorsal columns) and urinary bladder hyperactivity are present in all affected individuals, these findings occur in a minority of individuals with SPG3A. The average age of onset is four years. More than 80% of reported individuals manifest spastic gait before the end of the first decade of life. Most persons with early-onset ATL1-HSP have a "pure" ("uncomplicated") HSP; however, complicated HSP with axonal motor neuropathy and/or distal amyotrophy with lower motor neuron involvement (Silver syndrome phenotype) has been observed. The rate of progression in ATL1-HSP is slow, and wheelchair dependency or need for a walking aid (cane, walker, or wheelchair) is relatively rare.|GeneReviews|N|
C2931365|A rare life-threatening genetic coagulation disorder with characteristics of an increased risk of blood clot formation in several members of a family due to a thrombomodulin gene mutation. Patients may manifest with venous thromboembolic disease, premature myocardial infarction and/or arterial thrombosis.|SNOMEDCT_US|N|
C2931369|Hearing loss-familial salivary gland insensitivity to aldosterone syndrome is characterised by bilateral moderate-to-severe sensorineural hearing loss and salivary gland insensitivity to aldosterone resulting in hyponatremia. It has been described in two brothers. Transmission appeared to be autosomal recessive.|ORDO|N|
C2931371|A rare syndromic intestinal malformation characterized by ulcer formation in the umbilical cord associated with congenital upper-intestinal atresia, typically presenting with intra-uterine hemorrhaging from the ulcer site and subsequent fetal bradycardia.|ORDO|N|
C2931373|A multiple congenital anomaly disorder with characteristics of anonychia congenita totalis and microcephaly, with normal intelligence along with some minor anomalies including single transverse palmar creases, fifth-finger clinodactyly and spaced teeth. Inheritance is likely to be autosomal recessive.|SNOMEDCT_US|N|
C2931374|This syndrome is characterised by primary hypergonadotropic hypogonadism and partial alopecia. So far, it has been described in seven patients from three families. Mullerian hypoplasia, absent or streak ovaries, hypoplastic internal genitalia and primary amenorrhoea were described in the females. The male appeared to have germinal cell aplasia. All patients displayed partial scalp alopecia, and axillary and pubic hair was sparse or absent in the females but normal in the male patient. Additional findings in some of the female patients included sparse eyebrows, microcephaly, flat occiput, dorsal kyphosis and mild intellectual deficit. Transmission was autosomal recessive.|SNOMEDCT_US|N|
C2931375|Bony fusion of the mandibular condyle to the base of the skull, resulting in limitation of jaw opening.|HPO|N|
C2931381|This syndrome has characteristics of intellectual deficit, seizures and psoriasis. It has been described in four male cousins. The mode of inheritance is thought to be X-linked recessive.|SNOMEDCT_US|N|
C2931391|This syndrome has main feature of congenital cataracts with squint, intellectual deficit, anomalies of the genitourinary tract (rectovesical fistula, micropenis, undescended testis, and hypospadias), imperforate anus and other anomalies. It has been described in three siblings born to nonconsanguineous parents. It is likely to be transmitted as an autosomal recessive trait.|SNOMEDCT_US|N|
C2931398|A multiple congenital developmental anomalies syndrome with characteristics of arachnodactyly of fingers and toes associated with craniofacial dysmorphism (including abnormal cranial ossification, frontal bossing, flat calvaria, shallow deformed orbits resulting in exophthalmos, midface hypoplasia and micrognathia), feeding difficulties in infancy, infantile muscular hypotonia, and developmental delay leading to intellectual disability.|SNOMEDCT_US|N|
C2931402|A rare genetic disease reported in two siblings of consanguineous Arab parents with characteristics of cystic fibrosis, gastritis associated with Helicobacter pylori, folate deficiency megaloblastic anaemia, and intellectual disability. There have been no further descriptions in the literature since 1991.|SNOMEDCT_US|N|
C2931405|A syndrome characterized by a unilateral linear basal cell nevus, diffuse osteoma cutis, unilateral anodontia (missing teeth), and abnormal bone mineralization. This is an n-of-1 use case where only one patient or family has been described with this disorder.|MONDO|N|
C2931408|A syndrome characterized by total alopecia (hair loss), total vitíligo, and nail changes. The nail changes consist of fine pitting, associated with softness, and friability and may include horizontal splitting. The vitiligo is characterized by complete, rapid uniform loss of pigment which occurrs without going through a patchy state. The entire cutaneous surface is light and translucent-appearing and is prone to burning on exposure to the sun.|MONDO|N|
C2931411|A rare genetic cutaneous disorder with characteristics of leukonychia and multiple recurrent pilar cysts associated or not with ciliar dystrophy and/or koilonychia. Renal calculi have also been reported.|SNOMEDCT_US|N|
C2931412|Acortico-subcortical suprabulbar or pseudobulbar palsy of the lower cranial nerves, with characteristics of severe dysarthria and dysphagia associated with bilateral central facio-pharyngo-glosso-masticatory paralysis, with prominent automatic-voluntary dissociation in which involuntary movements of the affected muscles are preserved. Less than 150 cases have been described in the literature so far. Can occur at any age. Patients have severe speech disturbances and most are mute.Chewing and swallowing are severely impaired. Caused by developmental or acquired bilateral lesions of the anterior opercula. In children, it presents congenitally (bilateral opercular polymicrogyria) or as an acquired disorder due to encephalitis, epilepsy and neurodegenerative disorders. The syndrome is generally sporadic but some familial cases have been described.|SNOMEDCT_US|N|
C2931418|A rare autosomal recessive primary immunodeficiency characterized by absence of HLA class II molecules on the surface of immune cells, leading to severely impaired cellular and humoral immune response to foreign antigens, severe CD4+ T-cell lymphopenia, and hypogammaglobulinemia. The disease clinically manifests with early onset of severe and recurrent infections mainly of the respiratory and gastrointestinal tract, protracted diarrhea with failure to thrive, and autoimmune disease, and is frequently fatal in childhood.|ORDO|N|
C2931420|A rare and crippling chondrodysplasia, reported mainly in the Maputaland region in northern Kwazulu Natal, South Africa, with features of bilateral and uniform arthropathy of the joints that primarily and most severely affects the hip but that can also affect many other joints. Manifests with pain and stiffness that progressively limits joint movement, eventually compromising a patient''s ability to walk. Severe short stature and brachydactyly has been reported in a few patients with the disorder.|SNOMEDCT_US|N|
C2931421|A rare developmental anomaly characterized by brachytelephalangy, distinct craniofacial features (prominent square forehead, telecanthus, small nose, malar hypoplasia, smooth philtrum and thin upper lip) and, relative to other family members, short stature. These features may be associated with anosmia and hypogonadotropic hypogonadism (Kallman syndrome). There have been no further descriptions in the literature since 1986.|ORDO|N|
C2931422|Ring chromosome 21 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including growth retardation, developmental delay, intellectual disability, epilepsy, microcephaly, short stature, dysmorphic features, hypogammaglobulinemia, thrombocytopenia and unspecific skeletal anomalies (hemivertebrae, clinodactyly, syndactyly). In rare cases, it has been described in phenotypically normal individuals.|ORDO|N|
C2931429|PANDAS is an acronym for Pediatric Autoimmune Neuropsychiatric Disorders Associated with a group A beta-hemolytic Streptococcal infection and applied to a subgroup of children with obsessive-compulsive disorder (OCD) and/or tic disorders.|ORDO|N|
C2931441|ALS2-related disorder involves retrograde degeneration of the upper motor neurons of the pyramidal tracts and comprises a clinical continuum of the following three phenotypes: Infantile ascending hereditary spastic paraplegia (IAHSP), characterized by onset of spasticity with increased reflexes and sustained clonus of the lower limbs within the first two years of life, progressive weakness and spasticity of the upper limbs by age seven to eight years, and wheelchair dependence in the second decade with progression toward severe spastic tetraparesis and a pseudobulbar syndrome caused by progressive cranial nerve involvement. Juvenile primary lateral sclerosis (JPLS), characterized by upper motor neuron findings of pseudobulbar palsy and spastic quadriplegia without dementia or cerebellar, extrapyramidal, or sensory signs. Juvenile amyotrophic lateral sclerosis (JALS or ALS2), characterized by onset between ages three and 20 years. All affected individuals show a spastic pseudobulbar syndrome (spasticity of speech and swallowing) together with spastic paraplegia. Some individuals are bedridden by age 12 to 50 years.|GeneReviews|N|
C2931444|Syndrome that is characterized by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11. Only five cases have been reported in the literature. The identification, by FISH, of 22q11.2 deletions in the majority of reported cases (including the original cases described by Kousseff) indicated that this syndrome is part of the variable clinical spectrum of monosomy 22q11. However, the absence of a 22q11.2 deletion in one patient suggests Kousseff syndrome to be a causally heterogeneous disorder.|SNOMEDCT_US|N|
C2931445|A disease that involves the sacral nerve plexus.|MONDO|N|
C2931452|An extremely rare malformative association, described in only two siblings to date with characteristics of Hirschsprung disease (defined by the presence of an aganglionic segment of variable extent in the terminal part of the colon that leads to the symptoms of intestinal obstruction including constipation and abdominal distension), polydactyly of hands and/or feet, unilateral renal agenesis, hypertelorism and congenital deafness. There have been no further descriptions in the literature since 1988.|SNOMEDCT_US|N|
C2931453|Syndrome that was described in two siblings born to consanguineous parents in 1985 with the presence of 15 dorsal vertebrae and rib pairs. No other cases have been documented since the initial report.|SNOMEDCT_US|N|
C2931454|A very rare syndromic genetic deafness with characteristics of mild to moderate conductive hearing loss, dysmorphic pinnae and lip pits or dimples. The pinnae are usually small, cup-shaped with helix folded forward, and hearing loss is associated with malformed ossicles and displacement of the external auditory canal.|SNOMEDCT_US|N|
C2931455|Prosopagnosia is the inability to recognize someone by the face alone, in the absence of sensory or intellectual impairment (Schwarzer et al., 2007). Almost all reported cases are of the acquired form, but there is evidence for a familial form as well (McConachie, 1976; de Haan, 1999; Galaburda and Duchaine, 2003; Kennerknecht et al., 2006).|OMIM|N|
C2931456|A small percentage of prostate cancers are hereditary and occur in families. These hereditary cancers are associated with inherited gene variants. Hereditary prostate cancers tend to develop earlier in life than non-inherited (sporadic) cases.\n\nSome cancerous tumors can invade surrounding tissue and spread to other parts of the body. Tumors that begin at one site and then spread to other areas of the body are called metastatic cancers. The signs and symptoms of metastatic cancer depend on where the disease has spread. If prostate cancer spreads, cancerous cells most often appear in the lymph nodes, bones, lungs, liver, or brain. \n\nThe severity and outcome of prostate cancer varies widely. Early-stage prostate cancer can usually be treated successfully, and some older men have prostate tumors that grow so slowly that they may never cause health problems during their lifetime, even without treatment. In other men, however, the cancer is much more aggressive; in these cases, prostate cancer can be life-threatening.\n\nEarly prostate cancer usually does not cause pain, and most affected men exhibit no noticeable symptoms. Men are often diagnosed as the result of health screenings, such as a blood test for a substance called prostate specific antigen (PSA) or a medical exam called a digital rectal exam (DRE). As the tumor grows larger, signs and symptoms can include difficulty starting or stopping the flow of urine, a feeling of not being able to empty the bladder completely, blood in the urine or semen, or pain with ejaculation. However, these changes can also occur with many other genitourinary conditions. Having one or more of these symptoms does not necessarily mean that a man has prostate cancer.\n\nProstate cancer is a common disease that affects men, usually in middle age or later. In this disorder, certain cells in the prostate become abnormal, multiply without control or order, and form a tumor. The prostate is a gland that surrounds the male urethra and helps produce semen, the fluid that carries sperm.|MedlinePlus Genetics|N|
C2931461|Cardiospondylocarpofacial syndrome (CSCF) is characterized by growth retardation, dysmorphic facial features, brachydactyly with carpal-tarsal fusion, extensive posterior cervical vertebral synostosis, cardiac septal defects with valve dysplasia, and deafness with inner ear malformations (summary by Le Goff et al., 2016).|OMIM|N|
C2931462|Characterised by urinary retention associated with abnormal electromyographic activity in young women in the absence of overt neurologic disease. May also be associated with polycystic ovaries in some women.|SNOMEDCT_US|N|
C2931464|An extremely rare syndrome with characteristics of radial ray hypoplasia, choanal atresia and convergent strabismus. It has been reported in a father and his two daughters. The radial ray involvement varies from absent radius, first metacarpal and thumb to hypoplastic thumb or triphalangeal thumb. Transmitted as an autosomal dominant trait.|SNOMEDCT_US|N|
C2931468|Cystic hamartoma of lung and kidney is a rare developmental malformation reported in 3 patients characterized by the presence of benign hamartomatous cysts in kidney and lung, clinically presenting as abdominal mass. Others associated features include hyperplastic nephromegaly, medullary dysplasia and mesoblastic nephroma. There have been no further descriptions in the literature since 1987.|ORDO|N|
C2931473|Syndrome that is characterized by cataracts, otitis media, intestinal malabsorption, chronic respiratory infection and failure to thrive. It has been recently described in two siblings born to consanguineous parents. The patients also developed recurrent pneumonia and progressive azotemia leading to end-stage renal disease. Both children died of overwhelming infection (sepsis, meningitis). An autosomal recessive mode of inheritance was proposed.|SNOMEDCT_US|N|
C2931482|A variant of neurofibromatosis type 1 characterized by the combination of features of neurofibromatosis type 1, such as café-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, optic nerve glioma and multiple neurofibromas; and Noonan syndrome, with features such as short stature, typical facial features, congenital heart defects and unusual pectus deformity.|SNOMEDCT_US|N|
C2931483|A rare ectodermal dysplasia syndrome characterized by congenital onychodystrophy (particularly of the distal nail) and severe hypotrichosis with alopecia involving the eyebrows, eyelashes and body hair. Scalp, beard, pubic and axillary hair is brittle and shows a twisting pattern on electron microscopy. There have been no further descriptions in the literature since 1991.|ORDO|N|
C2931484|Pilotto syndrome is a rare genetic multiple developmental anomalies syndrome, that is characterized by craniofacial anomalies (microcephaly, brachycephaly, craniosynostosis, facial asymmetry, cleft lip, cleft palate, dysmorphic facial features, ear lobe malformations, low hair line), congenital heart defects, hypogenitalism and/or hypogonadism, intellectual disability, scoliosis or kyphoscoliosis, short hypoplastic ribs, failure to thrive, growth delay, short stature and/or micromelia. There have been no further descriptions in the literature since 1975.|MONDO|N|
C2931485|A rare genetic ectodermal dysplasia syndrome with characteristics of sparse, thin brittle scalp hair as well as sparse eyebrows, eyelashes, axillary and pubic hair, delayed eruption of deciduous teeth and hypodontia of both dentitions. Mild palmoplantar keratosis, cafe au lait spots on back, mild dystrophy of nails and tibial deflection of toes are also associated. There have been no further descriptions in the literature since 1986.|SNOMEDCT_US|N|
C2931488|Zlotogora-Ogur syndrome is an ectodermal dysplasia syndrome with characteristics of hair, skin and teeth anomalies, facial dysmorphism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability.The prevalence is unknown but to date, less than 50 cases have been described in the literature. Caused by mutations in the gene PVRL1 (11q23-q24) which encodes nectin-1, the principal receptor used by alpha-herpesviruses to mediate entry into human cells. Transmission is autosomal recessive.|SNOMEDCT_US|N|
C2931494|A syndrome characterized by bilateral anophthalmia (absence of one or both eyes), esophageal atresia (the upper esophagus ends and does not connect with the lower esophagus and stomach), and cryptorchidism (a condition in which one or both of the testes fail to descend from the abdomen into the scrotum). This is an n-of-1 use case where only one patient or family has been described with this disorder.|MONDO|N|
C2931498|An X-linked dominant condition caused by mutation(s) in the IQSEC2 gene, encoding IQ motif and SEC7 domain-containing protein 2. It is characterized by substantially impaired intellectual functioning and behavioral abnormalities.|NCI|N|
C2931500|Colobomatous microphthalmia is a developmental disorder of the eye characterized by unilateral or bilateral microphthalmia associated with ocular coloboma.|ORDO|N|
C2931506|Syndrome with characteristics of corneal epithelial changes (associated with photophobia and burning and watering of the eyes), diffuse palmoplantar hyperkeratosis, distal onycholysis, brachydactyly, short stature, dental problems and premature birth. It has been described in seven individuals from three generations of one family. It is transmitted as an autosomal dominant trait.|SNOMEDCT_US|N|
C2931507|The sternal cleft is a rare congenital anomaly resulting from a fusion failure of the sternum.|HPO|N|
C2931508|An autosomal recessive liver disease, which was associated with numerical dental aberrations in a consanguineous Arabia Saudi family. This association suggests that the same gene is involved in both defects. General hypomineralization and enamel hypoplasia found in this family is thought to be secondary to malabsorption due to liver disease.|SNOMEDCT_US|N|
C2931509|An extremely rare syndrome with characteristics of multiple unerupted permanent teeth, hypoplasia of the alveolar process and of the maxillo-zygomatic region, severe genu valgum and deformed ears. Consanguinity in the family suggested autosomal recessive inheritance.|SNOMEDCT_US|N|
C2931515|Syndrome with characteristics of intellectual deficit, mild dysmorphism, type A brachydactyly, signs of obesity and ankylosis of both thumbs. It has been reported in several females from one family (a girl and her mother, her grandmother and probably also her sister and her great-aunt), as well as in an isolated case.|SNOMEDCT_US|N|
C2931516|This syndrome has characteristics of severe intellectual deficit, brachycephaly, plagiocephaly, prominent forehead and coarse facial features. It has been described in two males from one family. Two females belonging to the same family displayed moderate intellectual deficit but no craniofacial dysmorphism.|SNOMEDCT_US|N|
C2931517|A plasmacytoma characterized by the presence of malignant plasma cells with anaplastic features.|NCI|N|
C2931518|A variant of gastrointestinal stromal tumor with ultrastructural features of neural differentiation. It is composed of spindle or epithelioid neoplastic cells.|NCI|N|
C2931522|This syndrome has characteristics of facial dysmorphism (hypertelorism, telecanthus, downslanting palpebral fissures, ptosis, malar hypoplasia, broad nasal bridge, thin upper lip, smooth philtrum, and low-set prominent ears) and associated with joint anomalies (genu valgum or cubitus valgus, hyper-extensible joints). It has been described in two patients (a mother and her son). The boy also had hypoplastic shawl scrotum and cryptorchidism, and the mother had mild intellectual deficit.|SNOMEDCT_US|N|
C2931524|Extremely rare syndrome with features of microcephaly and brachycephaly, eye anomalies (microphthalmia, microcornea, congenital cataract), hypogenitalism, severe intellectual deficit, growth retardation and progressive spasticity. This syndrome is transmitted as an X-linked trait.|SNOMEDCT_US|N|
C2931529|A rare, multiple congenital anomalies/dysmorphic syndrome characterized by microcephaly, intellectual disability, seizures, and congenital heart defects (e.g. atrial/ventricular septal defect, hypoplastic aortic arch with persistent ductus arteriosus). Additional manifestations include mild hypothyroidism, skeletal abnormalities, micropenis, delayed psychomotor development, dysmorphic facial features (including epicanthus, depressed nasal bridge, prominent antitragus), and pulmonary vascular occlusive disease. There have been no further descriptions in the literature since 1989.|ORDO|N|
C2931531|Microcornea-corectopia-macular hypoplasia syndrome is characterized by microcornea, which may also be accompanied by corectopia and macular hypoplasia. It has been described in three individuals from two successive generations of one family.|MONDO|N|
C2931536|Vitamin B12-unresponsive methylmalonic acidemia is an inborn error of vitamin B12 (cobalamin) metabolism characterized by recurrent ketoacidotic crises or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12. There are two types of vitamin B12-unresponsive methylmalonic acidemia: &lt;i&gt;mut0&lt;/i&gt; and &lt;i&gt;mut-&lt;/i&gt; (see these terms).|ORPHANET|N|
C2931542|A rare neurologic disorder characterized by spontaneous periodic hypothermia and hyperhidrosis in the absence of hypothalamic lesions.|ORDO|N|
C2931543|An extremely rare lethal primary bone dysplasia with characteristics of thin ribs, thin long bones, high-arched palate and facial features of frontal bossing and low-set posteriorly rotated ears. Bilateral cryptorchidism may be also observed. There have been no further descriptions in the literature since 1990.|SNOMEDCT_US|N|
C2931547|A multiple congenital anomalies/dysmorphic syndrome with characteristics of intellectual disability, postaxial polydactyly, phalangeal hypoplasia, 2-3 toe syndactyly, uncombable hair and facial dysmorphism (including frontal bossing, hypotelorism, narrow palpebral fissures, nasal bridge and lips, prominent nasal root, large abnormal ears with prominent antihelix, poorly folded helix, underdeveloped lobule and antitragus, and micrognathia evolving into prognathism). Cryptorchidism, conductive hearing loss and progressive thoracic kyphosis were also reported.|SNOMEDCT_US|N|
C2931548|Describes the extremely rare triad of dilated cardiomyopathy, premature cataract and articular disease of the hips and spine with characteristics of hip joint degeneration, irregular intervertebral discs and platyspondyly. The ocular abnormalities are often the first symptoms to arise. There have been no further descriptions in the literature since 1985.|SNOMEDCT_US|N|
C2931549|Syndrome with characteristics of telecanthus, hypertelorism, strabismus, pes cavus and other variable anomalies. It has been described in a father and his son. The son also had hypospadias, bilateral inguinal hernia, clinodactyly and camptodactyly of the fingers. Radiographic findings including flared metaphyses of the long bones and osteopenia.|SNOMEDCT_US|N|
C2931551|A rare intellectual disability syndrome characterised by pre and postnatal growth deficiency, generalised muscular hypotonia, developmental delay (particularly of speech and language), hypotrophy of distal extremities, small and puffy hands and feet, eczematous skin and dental anomalies (i.e. small, widely-spaced teeth). Partial agenesis of the corpus callosum and a selective immunoglobulin IgG2 subclass deficiency has also been reported in some patients.|SNOMEDCT_US|N|
C2931571|Trisomy 4p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 4, with a highly variable phenotype, typically characterized by pre- and postnatal growth delay, psychomotor developmental delay and craniofacial dysmorphism (microcephaly, prominent glabelle, hypertelorism, enlarged ears with abnormal helix and antihelix, bulbous nose with flat or depressed nasal bridge, long philtrum, retrognathia with pointed chin). Additional features include skeletal (rocker bottom feet, arachnodactyly, camptodactyly) and renal malformations, cardiac defects, ocular abnormalities and abnormal genitalia in males.|ORDO|N|
C2931574|Deletion 5q35 refers to the different congenital malformation syndromes resulting from deletions of variable extent of the terminal part of the long arm of chromosome 5 (5q), spanning the region from 5q35.1 to 5q35.3 . The most significant anomaly is a recurring deletion in 5q35.2 comprising the NSD1 gene that causes Sotos syndrome. Subtelomeric deletions of the terminal 3.5 Mb region on 5q35.3 are very rare. Larger deletions including bands 5q35.1, 5q35.2 and 5q35.3 cause a more severe phenotype that associates severe developmental delay with microcephaly and significant cardiac defects. Various combinations of signs may result from deletions of variable extent depending on the genes comprised in the deleted segment.|SNOMEDCT_US|N|
C2931577|A congenital hypotrichosis that is characterized by trichorrhexis nodosa and trichoptilosis, dry skin, keratosis pilaris and leukonychia totalis. Other features include progressive transgrediens type of palmoplantar keratoderma, and hyperkeratotic lesions on the knees, elbows and perianal region.|MONDO|N|
C2931578|This syndrome is characterized by congenital muscular dystrophy, infantile cataract and hypogonadism. Transmission appears to be autosomal recessive.|SNOMEDCT_US|N|
C2931579|Syndrome with the association of moderate to severe intellectual deficit, microcephaly, epilepsy, coarse face, hirsutism and skeletal abnormalities (scoliosis and retarded bone development). It has been described only once, in two siblings (one male and one female). This syndrome is likely to be an autosomal recessive condition and thus parents should be informed of a 25% risk of recurrence for other children.|SNOMEDCT_US|N|
C2931585|Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement.|ORPHANET|N|
C2931587|A rare neurodegenerative disease characterized by slowly progressive ataxia, amyotrophy of the hands and distal arms, spastic paraplegia, progressive sensorineural hearing loss, hypogonadism and short stature. Additional features include generalized cerebellar atrophy and peripheral nervous system anomalies. Small cervical spinal cord, intellectual/language disability and localized vitiligo have also been reported. There have been no further descriptions in the literature since 1989.|SNOMEDCT_US|N|
C2931588|Syndrome with characteristics of progressive joint stiffness, glaucoma, short stature and lens dislocation. It has been described in three members of a family (the grandfather, his daughter and grandson). It is likely to be transmitted as an autosomal dominant trait. The acronym GEMSS (Glaucoma, Ectopia, Microspherophakia, Stiff joints, Short stature) was proposed as a name for the syndrome.|SNOMEDCT_US|N|
C2931591|Systemic sclerosis that is diagnosed in children. Juvenile systemic sclerosis is more likely to be of the overlap variant and presents with musculoskeletal involvement.|NCI|N|
C2931593|Syndrome with characteristics of caudal appendage, short terminal phalanges, deafness, cryptorchidism, intellectual deficit, short stature and dysmorphism. It has been described in monozygotic twin boys.|SNOMEDCT_US|N|
C2931595|This syndrome has characteristics of macrocephaly and midface hypoplasia, intellectual deficit, short stature, spastic paraplegia and severe central nervous system anomalies (hydrocephalus and Dandy-Walker malformation). It has been described in two unrelated adults.|SNOMEDCT_US|N|
C2931603|A rare chromosomal anomaly syndrome with a variable phenotype. Manifestations range from clinically normal to patients presenting intrauterine growth retardation, congenital heart anomalies (mainly ventricular septal defect), multiple dysmorphic features (hypertelorism, prominent nasal bridge) and other congenital anomalies (including eventration of diaphragm, agenesis of corpus callosum, cloverleaf skull, clinodactyly, anteriorly placed anus). Psychomotor development may be normal in spite of low growth parameters being associated.|SNOMEDCT_US|N|
C2931610|A rare congenital non-syndromic heart malformation characterized by a communication between the ascending aorta and the pulmonary trunk in the presence of two normally formed semilunar valves. It may be an isolated finding or occur in association with other anomalies. Severe clinical manifestations, such as congestive heart failure or pulmonary hypertension, typically develop in early life.|ORDO|N|
C2931613|A rare developmental defect during embryogenesis syndrome with characteristics of congenital manifestations of both oculo-auriculo-vertebral spectrum and caudal regression sequence. Phenotype is highly variable but patients typically present facial dysmorphism (including asymmetry, hypertelorism), auricular abnormalities (for example preauricular tags, microtia, absence of middle ear ossicles), skeletal malformations (hemivertebrae, hip dislocation, sacral agenesis/dysplasia, talipes equinovarus, flexion deformity of lower limbs), cardiac defects (dextrocardia, septal defects), renal and genitourinary anomalies (such as renal agenesis/dysplasia, abnormal external genitalia) along with anal anomalies such as anal atresia and rectovesical fistula.|SNOMEDCT_US|N|
C2931617|A complex form of hereditary spastic paraplegia with characteristics of delay in motor development followed by a slowly progressive spastic paraplegia (affecting mainly lower extremities) associated with a desquamating facial rash with butterfly distribution (presenting at around two months of age) and dysarthria. There have been no further descriptions in the literature since 1982.|SNOMEDCT_US|N|
C2931618|A hydatidiform mole is an abnormal pregnancy characterized by hydropic placental villi, trophoblastic hyperplasia, and poor fetal development. Familial recurrent hydatidiform mole is an autosomal recessive condition in which women experience recurrent pregnancy losses, predominantly complete hydatidiform mole (CHM). However, unlike sporadic CHMs, which are androgenetic with 2 paternal chromosome complements, CHMs associated with familial recurrence are genetically biparental in origin with both a maternal and a paternal contribution to the genome. Other pregnancy losses in this condition include partial hydatidiform mole, stillbirths, ectopic pregnancies, early neonatal deaths, and miscarriages, some of which may be undiagnosed molar pregnancies. Normal pregnancies are extremely rare in families with this condition (summary by Fallahian et al., 2013).
Genetic Heterogeneity of Recurrent Hydatidiform Mole
Another form of recurrent complete hydatidiform mole (HYDM2; 614293) is caused by mutation in the KHDC3L gene (611687) on chromosome 6q13. HYDM3 (618431) is caused by mutation in the MEI1 gene (608797) on chromosome 22q13. HYDM4 (618432) is caused by mutation in the C11ORF80 gene (616109) on chromosome 11q13.|OMIM|N|
C2931622|Ring chromosome 7 syndrome is a rare chromosomal anomaly syndrome, with highly variable phenotype, principally characterized by growth failure, short stature, intellectual disability, dermatological abnormalities (nevus flammeus, dark pigmented nevi, café-au-lait spots), microcephaly and facial dysmorphism (incl. facial asymmetry, small ears, abnormal palpebral fissures, ptosis, epicanthic folds, hyper/hypotelorism). Additional reported features include convulsions, cleft lip and palate, clinodactyly, kyphoscoliosis and genital anomalies (i.e. cryptorchidism, hypospadias, micropenis).|ORDO|N|
C2931631|A rare chromosomal anomaly syndrome with a highly variable phenotype. Manifestations include Blaschko linear skin pigmentary dysplasia, body asymmetry, enamel dysplasia, and developmental and growth delay. Intellectual disability, facial dysmorphism (frontal bossing, abnormal palpebral fissures, strabismus, abnormally shaped ears and micrognathia) and genital anomalies (undescended testes) have also been observed. It has been reported to be associated with maternal uniparental disomy of chromosome 7, resulting in a Silver-Russell syndrome phenotype. Cases with no associated malformations have also been reported.|SNOMEDCT_US|N|
C2931635|Chromosome 8p deletion is a chromosome abnormality that affects many different parts of the body. People with this condition are missing genetic material located on the short arm (p) of chromosome 8 in each cell. The severity of the condition and the associated signs and symptoms vary based on the size and location of the deletion and which genes are involved. Most cases are not inherited, although affected people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.|MONDO|N|
C2931638|A partial deletion of the short arm of chromosome 8 with manifestations of low birth weight, postnatal growth deficiency, mild intellectual deficit, hyperactivity, craniofacial abnormalities, and congenital heart defects. The prevalence is unknown but 8p23.1 deletions are rare. The clinical manifestations are variable and do not depend on the size of the deletion, since this is the same in the majority of patients. Most 8p23.1 deletions occur de novo, however, parents can carry and transmit the chromosomal rearrangement to their children as well, with a risk of 50% for each child.|SNOMEDCT_US|N|
C2931639|A rare systemic inflammatory disease associated with long-lasting biopersistance of post-vaccinal aluminic granulomas. More than 600 cases have been reported to date, most of them in France. This is probably due to large-scale vaccination with aluminium-containing vaccines in France during the 1990s. The disease generally manifests with myalgias of variable intensity, and is usually associated with weakness and chronic fatigue. Belongs to the group of Autoimmune/inflammatory Syndromes Induced by Adjuvants (ASIA): it is triggered, probably in genetically predisposed patients, by injection of vaccines containing aluminium hydroxide and may occur up to 10 years following vaccination.|SNOMEDCT_US|N|
C2931644|A rare genetic ocular disease with characteristics of congenital nystagmus (horizontal, vertical and/or torsional), foveal hypoplasia, presenile cataracts (with typical onset in the second to third decade of life) and normal irides. Corneal pannus and/or optic nerve hypoplasia may also be present. Caused by heterozygous mutation in the PAX6 gene on chromosome 11p13.|SNOMEDCT_US|N|
C2931646|A rare congenital syndrome characterized by skin and hair hypopigmentation, growth retardation, and intellectual deficit that are associated with a combination of various additional clinical anomalies such as ocular albinism, cataract, delayed neuropsychomotor development, sensorineural hearing loss, dolicocephaly, high arched palate, widely spaced teeth, anemia, and/or nystagmus.|SNOMEDCT_US|N|
C2931654|This syndrome has characteristics of sensorineural deafness, bilateral synostosis of the fourth and fifth metacarpals and metatarsals, genital anomalies (hypospadias in males), psychomotor delay and abnormal dermatoglyphics. So far, it has been described in two unrelated patients. Facial dysmorphism was noted in both patients (prominent forehead, ear anomalies, facial asymmetry and an open mouth appearance).|SNOMEDCT_US|N|
C2931655|Syndrome with characteristics of growth retardation, intellectual deficit, preaxial polydactyly and colobomatous anomalies. It has been described in one pair of siblings (brother and sister). The mode of transmission is thought to be autosomal recessive.|SNOMEDCT_US|N|
C2931658|A very rare epidermal nevus disorder characterized by the association of speckled lentiginous nevi with epidermal sebaceous nevi and extracutaneous anomalies.|SNOMEDCT_US|N|
C2931659|A very rare syndrome characterized by craniosynostosis (premature fusion of skull bones), hydrocephalus (an abnormal increase of cerebrospinal fluid in the ventricles of the brain) and abnormal development of the channel or duct in the middle of the brain that connects the third and fourth ventricles. This is an n-of-1 use case where only one patient or family has been described with this disorder.|MONDO|N|
C2931662|Syndrome with the presence of microcephaly and intracranial calcifications at birth accompanied by neurological delay, seizures and a clinical course similar to that seen in patients after intrauterine infection with Toxoplasma gondii, Rubella, Cytomegalovirus, Herpes simplex (so-called TORCH syndrome), or other agents, despite repeated tests revealing the absence of any known infectious agent. The clinical presentation of the reported cases is rather heterogeneous with variable manifestations including intrauterine growth retardation, hepatosplenomegaly, cerebellar hypoplasia or atrophy and congenital cataract. The cause remains unknown. Several familial cases, compatible with an autosomal recessive pattern of inheritance have been described.|SNOMEDCT_US|N|
C2931666|Fibrocartilaginous embolism (FCE) is a rare type of embolism (sudden blocking of an artery) that occurs in the spinal cord. FCE occurs when materials that are usually found within the vertebral disk of the spine enter into the nearby vascular system (veins and arteries) and block one of the spinal cord vessels. The signs and symptoms of FCE often develop after a minor or even unnoticed btriggering eventb such as lifting, straining, or falling. Symptoms of FCE may include neck and/or back pain, progressive muscle weakness, and paralysis.The exact underlying cause of FCE is poorly understood. Most cases occur sporadically in people with no family history of the disease. Diagnosis is based on imaging of the spinal cord and ruling out other causes of a blockage of the vascular system within the spinal cord. Treatment is generally focused on preventing possible complications and improving quality of life with medications and physical therapy.|MONDO|N|
C2931667|Syndrome with characteristics of variable spastic paraplegia, bilateral sensorineural deafness, intellectual deficit and progressive nephropathy. It has been described in six members of a family.|SNOMEDCT_US|N|
C2931668|Familial syndrome combining short stature, microcephaly, mental deficiency, seizures, hearing loss, and skin lesions|MONDO|N|
C2931672|Hereditary cerebral hemorrhage with amyloidosis, Dutch type (HCHWA-D) is a form of HCHWA (see this term), a group of familial central nervous system disorders, characterized by severe cerebral amyloid angiopathy (CAA), hemorrhagic and non-hemorrhagic strokes and dementia.|ORDO|N|
C2931680|An extremely rare multiple congenital anomaly syndrome with characteristics of distinctive intrauterine growth retardation, skeletal dysplasia with multiple malformations including camptodactyly of all fingers, bilateral hallux valgus, short second, fourth and fifth toes, hypoplastic patella, microcephaly, low-set ears, short neck, cuboid-shaped vertebral bodies, pectus excavatum, hip dislocation, and hypoplastic pubic region and genitalia. Described in two sisters there have been no further descriptions in the literature since 1985.|SNOMEDCT_US|N|
C2931681|Camptodactyly-taurinuria syndrome is a congenital malformation syndrome characterized by the association of a permanent camptodactyly of the fingers (see this term) with the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966.|ORDO|N|
C2931683|Camurati-Engelmann Disease not associated with TGFB1. This is an n-of-1 use case where only one patient or family has been described with this disorder.|MONDO|N|
C2931684|A rare chronic immune-mediated demyelinating polyneuropathy. The exact prevalence is unknown but less than 30 cases have been reported in the literature. The clinical picture comprises a chronic neuropathy with marked sensory ataxia and areflexia, and with relatively preserved motor function in the limbs. Motor weakness affecting the oculomotor and bulbar muscles is present as either a fixed or relapsing-remitting feature.|SNOMEDCT_US|N|
C2931685|Syndrome with the association of hypogonadism due to primary gonadal failure, mitral valve prolapse, mild intellectual deficit and short stature. It has been described in two brothers. Growth hormone levels and the response to gonadotropin stimulation tests were also abnormal.|SNOMEDCT_US|N|
C2931686|A rare subtype of CMT1 characterized by a variable clinical presentation. Onset within the first two years of life with a delay in walking is not uncommon; however, onset may occur later. CMT1E is caused by point mutations in the &lt;i&gt;PMP22&lt;/i&gt; (17p12) gene. The disease severity depends on the particular &lt;i&gt;PMP22&lt;/i&gt; mutation, with some cases being very mild and even resembling hereditary neuropathy with liability to pressure palsies, while others having an earlier onset with a more severe phenotype (reminiscent of Dejerine-Sottas syndrome) than that seen in CMT1A, caused by gene duplication. These severe cases may also report deafness and much slower motor nerve conduction velocities compared to CMT1A patients.|ORPHANET|N|
C2931687|Dysferlinopathy includes a spectrum of muscle disease characterized by two major phenotypes: Miyoshi muscular dystrophy (MMD) and limb-girdle muscular dystrophy type 2B (LGMD2B); and two minor phenotypes: asymptomatic hyperCKemia and distal myopathy with anterior tibial onset (DMAT). MMD (median age of onset 19 years) is characterized by muscle weakness and atrophy, most marked in the distal parts of the legs, especially the gastrocnemius and soleus muscles. Over a period of years, the weakness and atrophy spread to the thighs and gluteal muscles. The forearms may become mildly atrophic with decrease in grip strength; the small muscles of the hands are spared. LGMD2B is characterized by early weakness and atrophy of the pelvic and shoulder girdle muscles in adolescence or young adulthood, with slow progression. Other phenotypes in this spectrum are scapuloperoneal syndrome and congenital muscular dystrophy. Asymptomatic hyperCKemia is characterized by marked elevation of serum CK concentration only. DMAT is characterized by early and predominant distal muscle weakness, particularly of the muscles of the anterior compartment of the legs.|GeneReviews|N|
C2931689|Myotonic dystrophy type 2 (DM2) is characterized by myotonia and muscle dysfunction (proximal and axial weakness, myalgia, and stiffness), and less commonly by posterior subcapsular cataracts, cardiac conduction defects, insulin-insensitive type 2 diabetes mellitus, and other endocrine abnormalities. While myotonia (involuntary muscle contraction with delayed relaxation) has been reported during the first decade, onset is typically in the third to fourth decade, most commonly with fluctuating or episodic muscle pain that can be debilitating and proximal and axial weakness of the neck flexors and the hip flexors. Subsequently, weakness occurs in the elbow extensors and finger flexors. Facial weakness and weakness of the ankle dorsiflexors are less common. Myotonia rarely causes severe symptoms. In a subset of individuals, calf hypertrophy in combination with brisk reflexes is notable.|GeneReviews|N|
C2931697|Chromosome 14q deletion is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material on the long arm (q) of chromosome 14.|MONDO|N|
C2931702|Distal trisomy 14q is a rare, partial duplication of the long arm of chromosome 14 characterized by variable clinical features, most commonly including growth retardation and low birth weight, hypotonia, developmental delay, intellectual disability, short stature, microcephaly, facial dysmorphism (frontal bossing, hypertelorism, bulbous nose, micrognathia, sparse hair and eyebrows), congenital heart defects, spasticity and hyperreflexia.|ORDO|N|
C2931707|A rare chromosomal anomaly syndrome with principle characteristics of intrauterine growth restriction, congenital cardiac anomalies (ventricular and atrial septal defects, patent ductus arteriosus) and craniofacial dysmorphism (hypertelorism, downslanting palpebral fissures, wide nasal bridge). Patients also present brain (hypoplastic cerebellum, ventricular asymmetry), renal (small dysplastic kidneys), and/or genital (undescended testis, small penis, hypoplastic labia majora) anomalies. Digital and skin pigmentation abnormalities have also been reported.|SNOMEDCT_US|N|
C2931714|Ring chromosome 17 syndrome is a rare chromosomal anomaly syndrome, resulting from partial deletion of chromosome 17, characterized by highly variable manifestations, ranging from a severe phenotype which presents with lissencephaly and severe intellectual disability to a milder phenotype that includes short stature, microcephaly, intellectual disability, seizures (that may be pharmacoresistant), café-au-lait spots, retinal flecks and minor facial dysmorphism, depending on the presence or absence of the Miller-Dieker critical region.|ORDO|N|
C2931717|Infection with the less common aerobic antinomyces bacteria.|MONDO|N|
C2931719|Symbrachydactyly of hands and feet is a rare, non-syndromic limb reduction defect disorder characterized by unilateral or bilateral brachydactyly, cutaneous syndactyly and global hypoplasia of the hand and/or foot, with underlying muscles, tendons, ligaments and bones being affected but without other associated limb anomalies. Patients typically present short, stiff, webbed or missing fingers and/or toes which are often replaced with small stumps (nubbins) with residual nails.|ORDO|N|
C2931720|The features of frontofacionasal dysplasia include blepharophimosis, lower lid lagophthalmos, primary telecanthus, S-shaped palpebral fissures, facial hypoplasia, eyelid coloboma, widow's peak, cranium bifidum occultum, frontal lipoma, nasal hypoplasia, deformed nostrils, bifid nose, and cleft of lip, premaxilla, palate, and uvula (White et al., 1991). Also see frontonasal dysplasia (136760).|OMIM|N|
C2931722|This syndrome is characterised by the association of hypogonadotropic hypogonadism (with primary amenorrhoea and lack of secondary sexual development) and retinitis pigmentosa. It has been described in two sisters born to nonconsanguineous parents.|SNOMEDCT_US|N|
C2931728|Distal trisomy of the long arm of chromosome 10 results in characteristics of pre and postnatal growth retardation, a pattern of specific facial features, hypotonia, and developmental and psychomotor delay. To date, approximately 40 cases have been reported. Most cases are diagnosed in infancy or in childhood. The range and severity of symptoms and physical findings may vary from case to case, depending upon the exact length and location of the duplicated portion of chromosome 10q. The duplicated region almost always includes 10qter, with the most frequent proximal breakpoint at 10q24 (with variation from q22 to q25). Interstitial duplications of 10q have also been reported.|SNOMEDCT_US|N|
C2931734|A rare multiple congenital anomalies/dysmorphic syndrome with characteristics of congenital hydrocephalus involving the lateral ventricles, low-set umbilicus, bilateral inguinal hernia, and mild facial dysmorphism (such as epicanthal folds, broad flat nasal bridge and small bulbous nose). Additional reported manifestations include unilateral cryptorchidism, vesicoureteral reflux, and tetralogy of Fallot.|SNOMEDCT_US|N|
C2931736|This syndrome has characteristics of major seizures, dysmorphic features (round face, bulbous nose, wide mouth, prominent philtrum), pes planus, psychomotor retardation and obesity. It has been described in five children (three boys and two girls, one of whom died in infancy) from two unrelated Mexican families.|SNOMEDCT_US|N|
C2931737|A neurodevelopmental teratologic syndrome due to prenatal exposure to toluene. The disease is characterized by prematurity, low birth weight, dysmorphic features (short palpebral fissures, deep set eyes, low set ears, mid-facial hypoplasia, flat nasal bridge, thin upper lip, micrognathia, spatulate fingertips and small fingernails), central nervous system dysfunctions (intellectual disability, microcephaly, language impairment, hyperactivity, visual dysfunction) and postnatal growth delay. Prenatal exposure to toluene occurs as a result of incidental occupational exposure or solvent abuse during pregnancy. The features of toluene embryopathy often overlap with those seen in fetal alcohol syndrome.|ORDO|N|
C2931743|Lactate dehydrogenase deficiency is a condition that affects how the body breaks down sugar to use as energy in cells, primarily muscle cells.\n\nPeople with lactate dehydrogenase-A deficiency experience fatigue, muscle pain, and cramps during exercise (exercise intolerance). In some people with lactate dehydrogenase-A deficiency, high-intensity exercise or other strenuous activity leads to the breakdown of muscle tissue (rhabdomyolysis). The destruction of muscle tissue releases a protein called myoglobin, which is processed by the kidneys and released in the urine (myoglobinuria). Myoglobin causes the urine to be red or brown. This protein can also damage the kidneys, in some cases leading to life-threatening kidney failure. Some people with lactate dehydrogenase-A deficiency develop skin rashes. The severity of the signs and symptoms among individuals with lactate dehydrogenase-A deficiency varies greatly.\n\nThere are two types of this condition: lactate dehydrogenase-A deficiency (sometimes called glycogen storage disease XI) and lactate dehydrogenase-B deficiency.\n\nPeople with lactate dehydrogenase-B deficiency typically do not have any signs or symptoms of the condition. They do not have difficulty with physical activity or any specific physical features related to the condition. Affected individuals are usually discovered only when routine blood tests reveal reduced lactate dehydrogenase activity.|MedlinePlus Genetics|N|
C2931745|An ectodermal dysplasia syndrome with characteristics of severe arthrogryposis, multiple ectodermal dysplasia features, cleft lip/palate, facial dysmorphism, growth deficiency and a moderate delay of psychomotor development. Ectodermal dysplasia manifestations include sparse, brittle and hypopigmented hair, xerosis, multiple naevi, small conical shaped teeth and hypodontia, and facial dysmorphism with blepharophimosis, deep-set eyes and micrognathia.|SNOMEDCT_US|N|
C2931746|A increased concentration of sulfocysteine in the urine.|HPO|N|
C2931750|A multiple congenital anomaly syndrome described in 5 patients to date. Characteristics include flat face, hypertelorism, flat occiput, upward slanting palpebral fissures, cleft palate, micrognathia, short neck, and severe congenital heart defects, which were lethal in 3 of the 5 patients. Malrotation of the intestine, bilateral clinodactyly, bilobed tongue, short fourth metatarsals and bifid thumbs were reported in individual cases. There have been no further descriptions in the literature since 1997.|SNOMEDCT_US|N|
C2931755|A rare teratogenic disorder due to acitretin exposure during the first trimester of pregnancy, carrying a risk of fetal malformations of approximately 20%, including central nervous system, craniofacial, ear, thymic, cardiac and limb anomalies.|SNOMEDCT_US|N|
C2931758|A rare non-histaminic angioedema characterized by potentially life-threatening episodes of edema of subcutaneous and/or mucosal tissues without urticaria, caused by excessive consumption of C1 esterase inhibitor (C1-INH) in the context of lymphoproliferative or autoimmune diseases. Patients typically present in the fourth decade of life or later and without a family history of angioedema. Clinical manifestation includes nonpitting edema of the skin predominantly involving the face, but also the limbs or genitals, as well as abdominal pain due to involvement of the gastrointestinal mucosa and severe edema of the upper airway and oral mucosa. Laboratory examination shows low C1-INH activity and low C3, C4, and C1q levels. Autoantibodies to C1-INH are frequently detectable.|SNOMEDCT_US|N|
C2931760|Absence of the corpus callosum with unusual facial appearance, mental deficiency, duplication of the halluces, and polydactyly.|JABL|N|
C2931761|A rare genetic dysostosis disorder with characteristics of brachydactyly and other finger/toe anomalies (short and/or wide metacarpals, abnormal or absent metatarsals, broad halluces), carpal synostosis, fused cervical vertebrae, scoliosis and spina bifida occulta. There have been no further descriptions in the literature since 1984.|SNOMEDCT_US|N|
C2931762|The Catania type of acrofacial dysostosis is characterized by intrauterine growth retardation, short stature, microcephaly, intellectual disability, widow's peak, mandibulofacial dysostosis without cleft palate, ear anomalies, mild pre- and postaxial limb hypoplasia with brachydactyly, mild interdigital webbing, dental anomalies, and cryptorchidism and hypospadias in males (Opitz et al., 1993; Wulfsberg et al., 1996).|OMIM|N|
C2931765|A rare hereditary ataxia characterized by neurogenic muscular atrophy associated with signs of cerebellar ataxia, hypesthesia, degeneration of the retina, and diabetes mellitus. Onset of the disease is in adolescence and the course is slowly progressive. There have been no further descriptions in the literature since 1983.|ORPHANET|N|
C2931766|Furuncular myiasis in humans is caused by two species: the Cayor worm (larvae of the African tumbu fly Cordylobia anthropophaga) and the larvae of the human botfly (Dermatobia hominis). In the case of Cordylobia anthropophaga, the females lay their eggs on damp fabric or on the ground. The larvae penetrate the skin following contact with the ground or with non-ironed contaminated fabric. Infection becomes evident within 10 to 15 days with the formation of a pseudo-furuncle or emergence of a maggot. Infestation is usually localized to the scalp of infected individuals.|SNOMEDCT_US|N|
C2931767|Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MYO6 gene.|MONDO|N|
C2931775|A rare genetic bone development disorder with characteristics of multiple congenital fractures, slender ribs and long bones, deficient ossification of the skull and dysmorphic facial features reminiscent of Hallermann-Streiff syndrome (such as high forehead and triangular face with small jaw, deep-set eyes, beaked, narrow nose, downturned mouth and posteriorly angulated ears). Bilateral microphthalmia, cataracts and pulmonary hypoplasia have also been reported. The disease is fatal in the neonatal period.|SNOMEDCT_US|N|
C2931776|An extremely rare syndrome with synostosis described in about 4 patients to date with clinical manifestations including congenital unilateral radioulnar synostosis, generalized hypotonia, developmental delay and dysmorphic facial features (long face, prominent nose and ears).|SNOMEDCT_US|N|
C2931781|A rare metabolic disorder for which two forms have been described. Lack of activity of the erythrocyte isoform of adenosine monophosphate (AMP) deaminase has been described in subjects with low plasma uric acid levels without obvious clinical relevance and will not be described further. Myoadenylate deaminase deficiency is an inherited disorder of muscular energy metabolism with a lack of AMP deaminase activity in skeletal muscle. It is characterised by exercise-induced muscle pain, cramps and/or early fatigue.|ORDO|N|
C2931783|Amelogenesis imperfecta and gingival fibromatosis syndrome is an autosomal recessive condition characterized by mild gingival fibromatosis and dental anomalies, including hypoplastic amelogenesis imperfecta, intrapulpal calcifications, delay of tooth eruption, hypodontia/oligodontia, pericoronal radiolucencies, and unerupted teeth (Martelli-Junior et al., 2008).|OMIM|N|
C2931786|A neurodegenerative disease with characteristics of progressive muscular paralysis reflecting degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem and spinal cord. Caused by heterozygous mutation in the FUS gene on chromosome 16p11.|SNOMEDCT_US|N|
C2931787|Familial atrial myxoma is a rare, genetic cardiac tumor characterized by the presence of a primary, benign, gelatinous mass located in the atria and composed of primitive connective tissue cells and stroma (resembling mesenchyme) in several members of a family. Clinical presentation depends on the size, mobility and location of tumor, ranging from nonspecific and/or constitutional symptoms to sudden cardiac death, and includes dyspnea, hemoptisis, syncope, fatigue, fever, cutaneous rash, increases in venous pressure and/or peripheral edema.|ORDO|N|
C2931788|Hemolytic-uremic syndrome (HUS) is characterized by hemolytic anemia, thrombocytopenia, and renal failure caused by platelet thrombi in the microcirculation of the kidney and other organs. The onset of atypical HUS (aHUS) ranges from the neonatal period to adulthood. Genetic aHUS accounts for an estimated 60% of all aHUS. Individuals with genetic aHUS frequently experience relapse even after complete recovery following the presenting episode; 60% of genetic aHUS progresses to end-stage renal disease (ESRD).|GeneReviews|N|
C2931789|An exceedingly rare association with characteristics of cleft lip and progressive retinopathy.|SNOMEDCT_US|N|
C2931794|A rare chromosomal anomaly syndrome with a highly variable phenotype. The principle characteristics are growth delay, craniofacial dysmorphism (including prominent forehead, hypertelorism, upslanting palpebral fissures, blepharophimosis, low-set malformed large ears, high arched palate, cleft lip/palate, retrognathia) and cardiac, renal and skeletal (radial ray defects, scoliosis) malformations. Death usually occurs neonatally or in early infancy. Other reported features include central nervous system and ear anomalies, facial clefts and anal atresia.|SNOMEDCT_US|N|
C2931795|A cytogenetic abnormality that refers to the loss of all or part of the short arm of chromosome 11 (11p).|NCI|N|
C2931797|A rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 11 with high phenotypic variability. Principle characteristics are craniofacial dysmorphism (brachycephaly/plagiocephaly, low-set, posteriorly rotated ears, short philtrum, micrognathia) and intellectual disability. Short stature and seizures, as well as cardiac (atrial septal defect), skeletal (brachy/syndactyly) and genital (micropenis, cryptorchidism) abnormalities may also be associated. Neurodevelopmental anomalies (pain insensitivity, sensorineural hearing loss, expressive language deficiency) and neuropsychiatric disorders (autistic features, auditory hallucination, self-talking) have also been reported.|SNOMEDCT_US|N|
C2931804|A cytogenetic abnormality that refers to the allelic loss of all or part of the long arm of chromosome 11.|MONDO|N|
C2931808|A rare chromosomal anomaly of chromosome 13 characterized by a widely variable phenotype (ranging from mild to severe) principally characterized by intrauterine growth retardation, developmental delay, short stature, moderate to severe intellectual deficit, microcephaly, facial dysmorphism (i.e. upslanting palpebral fissures, hypertelorism, abnormal ears, broad nasal bridge, high arched palate, micrognathia, small mouth, and thin lips), hands and feet anomalies, and genital abnormalities. Additional features reported include behavioral problems, hearing and speech disorders, congenital heart defects, cerebral malformations, and anal atresia.|ORDO|N|
C2931811|A rare partial trisomy of the short arm of chromosome 18 manifesting with a highly variable clinical phenotype which may include variable developmental delay and intellectual disability, epilepsy, and non-specific dysmorphic features, among others.|ORDO|N|
C2931812|Ring chromosome 19 syndrome is a rare chromosomal anomaly syndrome with a highly variable phenotype that may range from normal to patients with profound intellectual disability, developmental delay, learning disability (esp. speech) and mild dysmorphism (incl. micro/macrocephaly, prominent forehead, low-set and posteriorly rotated ears, hypertelorism, high nasal bridge, prominent philtrum, retro/micrognathia). Mild hypotonia and autistic-like mannerisms (e.g. hand opening and closing, head banging) may also be associated. Other anomalies, such as cutis laxa, hearing loss, syndactyly, digital hypoplasia, and talipes equinovarus, have also been reported.|ORDO|N|
C2931816|A chromosomal anomaly consisting of a partial long arm deletion of chromosome 2 with clinical characteristics of a wide range of manifestations (depending on the specific region deleted) which can include seizures, microcephaly, dysmorphic features, cleft palate, eye abnormalities (coloboma, cataract and microphthalmia), growth retardation, failure to thrive, heart defects, limb anomalies, developmental delay and autism.|SNOMEDCT_US|N|
C2931817|Patients with chromosome 2q37 deletion syndrome show highly variable clinical manifestations likely resulting from different deletion sizes and deletions of different genes. Variable clinical features included brachydactyly type E (BDE), affecting the metacarpals and metatarsals (in about 50% of patients), short stature, mild to moderate intellectual disability, behavioral abnormalities, and dysmorphic facial features. However, many individuals with deletions do not show cognitive deficits (summary by Villavicencio-Lorini et al., 2013, Wheeler et al., 2014, Jean-Marcais et al., 2015).|OMIM|N|
C2931819|Cleft palate, micrognathia, Wormian bones, congenital heart disease, dislocated hips, absent tibiae, bowed fibulae, preaxial polydactyly of the feet|MONDO|N|
C2931821|Progressive weakness and spasticity of the lower limbs due to degeneration of corticospinal axons. Autosomal recessive spastic paraplegia type 11 is a form of complicated spastic paraplegia with neurological features such as mental impairment and thin corpus callosum in addition to spasticity.|SNOMEDCT_US|N|
C2931822|Nasopharyngeal carcinoma (NPC, NPCA) is a multifactorial malignancy associated with both genetic and environmental factors. The cancer arises from the epithelium of the nasopharynx. The Epstein-Barr virus has been implicated (Tse et al., 2009).
Genetic Heterogeneity of Susceptibility to Nasopharyngeal Carcinoma
NPCA1 maps to chromosome 4p. NPCA2 (161550) maps to chromosome 6p21. NPCA3 (617075) is associated with variation in the MST1R gene (600168) on chromosome 3p21.
Somatic mutations have been found in the TP53 gene (191170) in nasopharyngeal carcinoma tumors.|OMIM|N|
C2931826|In a report on the 37th ENMC Workshop, Rudel and Lehmann-Horn (1997) stated that the sodium channelopathies can be divided into 3 different forms: paramyotonia, potassium-aggravated myotonia, and periodic paralysis. Potassium-aggravated myotonia includes mild myotonia fluctuans, severe myotonia permanens, and acetazolamide-responsive myotonia.|OMIM|N|
C2931828|A rare genetic punctate palmoplantar keratoderma disease with characteristics of discrete focal punctate keratoderma on the palms and soles and/or slowly progressive spastic paralysis, predominantly affecting the lower limbs. Lesional histology reveals pronounced orthokeratosis, acanthosis, papillomatosis, and regular undulation to the surface keratin. There have been no further descriptions in the literature since 1983.|SNOMEDCT_US|N|
C2931831|Syndrome with characteristics of progressive pigmentary retinal degeneration (with nyctalopia and visual field restriction), cystic macular degeneration and angle closure glaucoma. It has been described in seven members of one family. Patients also have hyperopia and nanophthalmos. The mode of transmission is autosomal recessive.|SNOMEDCT_US|N|
C2931832|Familial hyperinsulinism, also referred to as congenital hyperinsulinism, nesidioblastosis, or persistent hyperinsulinemic hypoglycemia of infancy (PPHI), is the most common cause of persistent hypoglycemia in infancy and is due to defective negative feedback regulation of insulin secretion by low glucose levels. Unless early and aggressive intervention is undertaken, brain damage from recurrent episodes of hypoglycemia may occur (Thornton et al., 1998).
Genetic Heterogeneity of Hyperinsulinemic Hypoglycemia
HHF2 (601820) is caused by mutation in the KCNJ11 gene (600937) on chromosome 11p15. HHF3 (602485) is caused by mutation in the glucokinase gene (GCK; 138079) on chromosome 7p13. HHF4 (609975) is caused by mutation in the HADH gene (601609) on chromosome 4q25. HHF5 (609968) is caused by mutation in the insulin receptor gene (INSR; 147670) on chromosome 19p13. HHF6 (606762) is caused by mutation in the GLUD1 gene (138130) on chromosome 10q23. HHF7 (610021) is caused by mutation in the SLC16A1 (600682) on chromosome 1p13. There is evidence of further genetic heterogeneity of HHF.|OMIM|N|
C2931833|Congenital hyperinsulinism is a condition that causes individuals to have abnormally high levels of insulin. Insulin is a hormone that helps control levels of blood glucose, also called blood sugar. People with this condition have frequent episodes of low blood glucose (hypoglycemia). In infants and young children, these episodes are characterized by a lack of energy (lethargy), irritability, or difficulty feeding. Repeated episodes of low blood glucose increase the risk for serious complications such as breathing difficulties, seizures, intellectual disability, vision loss, brain damage, and coma.\n\nThe severity of congenital hyperinsulinism varies widely among affected individuals, even among members of the same family. About 60 percent of infants with this condition experience a hypoglycemic episode within the first month of life. Other affected children develop hypoglycemia by early childhood. Unlike typical episodes of hypoglycemia, which occur most often after periods without food (fasting) or after exercising, episodes of hypoglycemia in people with congenital hyperinsulinism can also occur after eating.|MedlinePlus Genetics|N|
C2931835|Hyperprolinemia type II results in proline levels in the blood between 10 and 15 times higher than normal, and high levels of a related compound called pyrroline-5-carboxylate. This form of the disorder is more likely than type I to involve seizures or intellectual disability that vary in severity.\n\nPeople with hyperprolinemia type I often do not show any symptoms, although they have proline levels in their blood between 3 and 10 times the normal level. Some individuals with hyperprolinemia type I exhibit seizures, intellectual disability, or other neurological or psychiatric problems.\n\nHyperprolinemia can also occur with other conditions, such as malnutrition or liver disease. In particular, individuals with conditions that cause elevated levels of a chemical called lactic acid in the blood (lactic acidosis) may have hyperprolinemia as well, because lactic acid stops (inhibits) the breakdown of proline.\n\nHyperprolinemia is an excess of a particular protein building block (amino acid), called proline, in the blood. This condition generally occurs when proline is not broken down properly by the body. There are two forms of hyperprolinemia, called type I and type II.|MedlinePlus Genetics|N|
C2931837|Congenital hypertryptophanemia, which is accompanied by hyperserotonemia, does not appear to have significant clinical consequences (Ferreira et al., 2017).|OMIM|N|
C2931845|Neurodegeneration with brain iron accumulation (NBIA, formerly Hallervorden-Spatz syndrome) encompasses a group of rare neurodegenerative disorders characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation in the brain and the presence of axonal spheroids, usually limited to the central nervous system.|ORDO|N|
C2931850|Diamond-Blackfan anemia (DBA) is characterized by a profound normochromic and usually macrocytic anemia with normal leukocytes and platelets, congenital malformations in up to 50%, and growth deficiency in 30% of affected individuals. The hematologic complications occur in 90% of affected individuals during the first year of life. The phenotypic spectrum ranges from a mild form (e.g., mild anemia or no anemia with only subtle erythroid abnormalities, physical malformations without anemia) to a severe form of fetal anemia resulting in nonimmune hydrops fetalis. DBA is associated with an increased risk for acute myelogenous leukemia (AML), myelodysplastic syndrome (MDS), and solid tumors including osteogenic sarcoma.|GeneReviews|N|
C2931852|A clear cell renal cell carcinoma that has spread from its original site of growth to other anatomic sites.|NCI|N|
C2931867|A rare non-syndromic central nervous system malformation characterized by the association of three signs: hydrocephalus, partial or complete absence of the cerebellar vermis, and posterior fossa cyst contiguous with the fourth ventricle, presenting early in life with hydrocephalus, bulging occiput and posterior fossa signs such as cranial nerve palsies, nystagmus and ataxia.|ORPHANET|N|
C2931870|An instance of schizencephaly that is caused by an inherited modification of the individual's genome.|MONDO|N|
C2931872|Free sialic acid storage disease (free SASD), is a group of lysosomal storage diseases characterized by a spectrum of clinical manifestations including neurological and developmental disorders with severity ranging from the milder phenotype, Salla disease (SD), to the most severe phenotype, infantile free sialic acid storage disease (ISSD).|ORDO|N|
C2931875|Hermansky-Pudlak syndrome (HPS) is characterized by oculocutaneous albinism, a bleeding diathesis, and, in some individuals, pulmonary fibrosis, granulomatous colitis, or immunodeficiency. Ocular findings include reduced iris pigment with iris transillumination, reduced retinal pigment, foveal hypoplasia with significant reduction in visual acuity (usually in the range of 20/50 to 20/400), nystagmus, and increased crossing of the optic nerve fibers. Hair color ranges from white to brown; skin color ranges from white to olive and is usually a shade lighter than that of other family members. The bleeding diathesis can result in variable bruising, epistaxis, gingival bleeding, postpartum hemorrhage, colonic bleeding, and prolonged bleeding with menses or after tooth extraction, circumcision, and other surgeries. Pulmonary fibrosis, a restrictive lung disease, typically causes symptoms in the early thirties and can progress to death within a decade. Granulomatous colitis is severe in about 15% of affected individuals. Neutropenia and/or immune defects occur primarily in individuals with pathogenic variants in AP3B1 and AP3D1.|GeneReviews|N|
C2931884|An inflammatory condition characterised by erythroderma, desquamation, alopecia, chronic diarrhoea, failure to thrive, lymphadenopathy and hepatosplenomegaly associated with severe combined immunodeficiency. The signs and symptoms can evolve over time and may not appear simultaneously. Some patients present with some but not all of these symptoms and may be described as having atypical Omenn syndrome. The syndrome is not caused by a defined genetic defect. The majority of cases reported to date have hypomorphic mutations in RAG1 and RAG2 genes (11p13). Transmission is autosomal recessive.|SNOMEDCT_US|N|
C2931907|Autosomal recessive form of limb-girdle muscular dystrophy.|MONDO|N|
C2931914|A syndrome which occurs as a result of the occlusion of one of the vertebral arteries. It may be caused by atherosclerosis, embolism or hemorrhage. Collateral circulation through the circle of Willis is usually comprised as well. Clinical signs may include vertigo, nystagmus, dysarthria, ataxia and sensorimotor deficits. Clinical course may lead to persistence of neurologic deficits. Prognosis is variable with a substantial risk for recurrent infarction.|NCI|N|
C2932665|Diploid-triploid mosaicism is a chromosome disorder. Individuals with diploid-triploid syndrome have some cells with three copies of each chromosome for a total of 69 chromosomes (called triploid cells) and some cells with the usual 2 copies of each chromosome for a total of 46 chromosomes (called diploid cells). Having two or more different cell types is called mosaicism. Diploid-triploid mosaicism can be associated withtruncal obesity, body/facial asymmetry, weak muscle tone (hypotonia), delays in growth,mild differences infacial features, fusion or webbing between some of the fingers and/or toes (syndactyly) and irregularities in the skin pigmentation. Intellectual disabilities may be present but are highly variable from person to person ranging from mild to more severe. The chromosome disorder is usually not present in the blood; a skin biopsy, or analyzing cells in the urine is needed to detect the triploid cells.|MONDO|N|
C2932666|A form of diabetes insipidus that manifests during pregnancy (or in some cases, after pregnancy). It is characterized by theappearance of a polyuric-polydipsic syndrome that resultsin fluid intake ranging from 3 to 20 L/day. It is also charac-terized by excretion of abnormally high volumes of dilutedurine. This polyuria is insipid, i.e., the urine concentrationof dissolved substances is very low.|MONDO|N|
C2932679|Orofaciodigital syndrome type 12 is a rare subtype of orofaciodigital syndrome, with sporadic occurrence, characterized by cardiac (septum hypertrophy) and central nervous system abnormalities (myelomeningocele, Sylvius aqueduct stenosis, corpus callosum agenesis, vermis hypoplasia), in addition to oral, facial and digital malformations (gingival frenulae, bifid tongue, supernumerary teeth, macrocephaly, hypertelorism, pre- and post-axial polydactyly in hands, preaxial polydactyly in feet and club feet). Skeletal anomalies, such as short tibiae and central, Y-shaped metacarpals, are also associated.|ORDO|N|
C2932680|Orofaciodigital syndrome type 13 is a rare subtype of orofaciodigital syndrome, with sporadic occurrence, characterized by cardiac (mitral and tricuspid valve dysplasia) and neuropsychiatric manifestations (epilepsy, depression), in addition to oral, facial and digital malformations (lingual hamartomas, cleft lip, brachydactyly, clinodactyly, syndactyly of hands and feet). Leukoaraiosis, on brain MRI examination, is also associated.|ORDO|N|
C2932714|TSEN54 pontocerebellar hypoplasia (TSEN54-PCH) comprises three PCH phenotypes (PCH2, 4, and 5) that share characteristic neuroradiologic and neurologic findings. The three PCH phenotypes (which differ mainly in life expectancy) were considered to be distinct entities before their molecular basis was known. PCH2. Children usually succumb before age ten years (those with PCH4 and 5 usually succumb as neonates). Children with PCH2 have generalized clonus, uncoordinated sucking and swallowing, impaired cognitive development, lack of voluntary motor development, cortical blindness, and an increased risk for rhabdomyolysis during severe infections. Epilepsy is present in approximately 50%. PCH4. Neonates often have seizures, multiple joint contractures ("arthrogryposis"), generalized clonus, and central respiratory impairment. PCH5 resembles PCH4 and has been described in one family.|GeneReviews|N|
C2932715|Parathyroid hormone resistance caused by defects in methylation in the GNAS gene that cause loss of expression of Gs-alpha from the maternal allele in renal tissue, resulting in decreased phosphate excretion and increased calcium excretion. Individuals with this condition may also have brachydactyly and partial resistance to thyroid-stimulating hormone.|NCI|N|
C2932716|Disorders of GNAS inactivation include the phenotypes pseudohypoparathyroidism Ia, Ib, and Ic (PHP-Ia, -Ib, -Ic), pseudopseudohypoparathyroidism (PPHP), progressive osseous heteroplasia (POH), and osteoma cutis (OC). PHP-Ia and PHP-Ic are characterized by: End-organ resistance to endocrine hormones including parathyroid hormone (PTH), thyroid-stimulating hormone (TSH), gonadotropins (LH and FSH), growth hormone-releasing hormone (GHRH), and CNS neurotransmitters (leading to obesity and variable degrees of intellectual disability and developmental delay); and The Albright hereditary osteodystrophy (AHO) phenotype (short stature, round facies, and subcutaneous ossifications) and brachydactyly type E (shortening mainly of the 4th and/or 5th metacarpals and metatarsals and distal phalanx of the thumb). Although PHP-Ib is characterized principally by PTH resistance, some individuals also have partial TSH resistance and mild features of AHO (e.g., brachydactyly). PPHP, a more limited form of PHP-Ia, is characterized by various manifestations of the AHO phenotype without the hormone resistance or obesity. POH and OC are even more restricted variants of PPHP: POH consists of dermal ossification beginning in infancy, followed by increasing and extensive bone formation in deep muscle and fascia. OC consists of extra-skeletal ossification that is limited to the dermis and subcutaneous tissues.|GeneReviews|N|
C2932717|Pseudohypoparathyroidism (PHP) is a term applied to a heterogeneous group of disorders whose common feature is resistance to parathyroid hormone (PTH; 168450). PHP type II is characterized by a normal cAMP response to PTH infusion, but a deficient phosphaturic response, indicating a defect distal to cAMP generation in renal cells. The clinical features of Albright hereditary osteodystrophy (AHO; see 103580) are not present in PHP II (Mantovani and Spada, 2006).
For a general phenotypic description, classification, and a discussion of molecular genetics of pseudohypoparathyroidism, see PHP1A (103580).|OMIM|N|
C2936179|Obesity due to excessive deposition of INTRA-ABDOMINAL FAT in the abdominal VISCERA and OMENTUM.|MSH|N|
C2936233|Transient reduction in blood pressure levels immediately after exercises that lasts 2-12 hours. The reduction varies but is typically 5-20 mm Hg when compared to pre-exercise levels. It exists both in normotensive and hypertensive individuals and may play a role in excercise related PHYSIOLOGIC ADAPTATION.|MSH|N|
C2936258|An inflammatory process with loss of supporting bone in the tissues surrounding functioning DENTAL IMPLANTS.|MSH|N|
C2936267|A copy number variation that results in reduced GENE DOSAGE due to any loss-of-function mutation. The loss of heterozygosity is associated with abnormal phenotypes or diseased states because the remaining gene is insufficient.|MSH|N|
C2936274|The shrinkage of the foreign body encapsulation scar tissue that forms around artificial implants imbedded in body tissues.|MSH|N|
C2936290|Femoroacetabular impingement (FAI) results from one or more bony abnormalities that lead to abnormal contact between the acetabulum and the femoral head or neck. The femoral abnormality is proposed to cause compression and shear stresses in the region between the labrum and cartilage, anterosuperiorly. These stresses cause a separation between the labrum and cartilage as the labrum is pushed outwards and the cartilage is pushed centrally. This eventually leads to articular degeneration and eventually global hip osteoarthritis.|HPO|N|
C2936323|Highly contagious infectious dermatitis with lesions near the interdigital spaces usually in cattle. It causes discomfort and often severe lameness (LAMENESS, ANIMAL). Lesions can be either erosive or proliferative and wart-like with papillary growths and hypertrophied hairs. DICHELOBACTER NODOSUS and TREPONEMA are the most commonly associated causative agents for this mixed bacterial infection disease.|MSH|N|
C2936328|Diseases that are underfunded and have low name recognition but are major burdens in less developed countries. Neglected diseases include many tropical infectious diseases, e.g., HELMINTHIASIS; LEPROSY; LYMPHATIC FILARIASIS; ONCHOCERCIASIS; SCHISTOSOMIASIS; and TRACHOMA.|MSH|N|
C2936329|Diseases that do not exhibit symptoms.|MSH|N|
C2936331|Deficiencies or mutations in the genes for the sarcoglycan complex subunits. A variety of phenotypes are associated with these mutations including a subgroup of autosomal recessive limb girdle muscular dystrophies, cardiomyopathies, and respiratory deficiency.|MONDO|N|
C2936332|Autosomal recessive limb-girdle muscular dystrophy-3 (LGMDR3) affects mainly the proximal muscles and results in difficulty walking. Most individuals have onset in childhood; the disorder is progressive. Other features may include scapular winging, calf pseudohypertrophy, and contractures. Cardiomyopathy has rarely been reported (summary by Babameto-Laku et al., 2011).
For a discussion of genetic heterogeneity of autosomal recessive limb-girdle muscular dystrophy, see LGMDR1 (253600).|OMIM|N|
C2936346|Condition with a variable constellation of phenotypes due to deletion polymorphisms at chromosome location 22q11. It encompasses several syndromes with overlapping abnormalities including the DIGEORGE SYNDROME, VELOCARDIOFACIAL SYNDROME, and CONOTRUNCAL AMOMALY FACE SYNDROME. In addition, variable developmental problems and schizoid features are also associated with this syndrome. (From BMC Med Genet. 2009 Feb 25;10:16) Not all deletions at 22q11 result in the 22q11deletion syndrome.|MSH|N|
C2936373|Adjustment of BRAIN WAVES from two or more neuronal groups within or across a brain structure (e.g., cortical and limbic brain structures) to become uniform in EEG oscillation patterns in response to a stimulus. It is interpreted as a brain integration sign during many processes such as learning, memory, and perception and involves reciprocal neural connections.|MSH|N|
C2936395|The reaction of two molecular entities via oxidation usually catalyzed by a transition metal compound and involving dioxygen as the oxidant.|MSH|N|
C2936403|Conditions affecting individuals with 46,XX karyotype characterized by atypical development of one or more of the following: the gonads, the internal reproductive structures, the external reproductive/genital structures.|NCI|N|
C2936419|Nonsyndromic 46,XX testicular disorders/differences of sex development (DSD) are characterized by: the presence of a 46,XX karyotype; external genitalia ranging from typical male to ambiguous; two testicles; azoospermia; absence of müllerian structures; and absence of other syndromic features, such as congenital anomalies outside of the genitourinary system, learning disorders / cognitive impairment, or behavioral issues. Approximately 85% of individuals with nonsyndromic 46,XX testicular DSD present after puberty with normal pubic hair and normal penile size but small testes, gynecomastia, and sterility resulting from azoospermia. Approximately 15% of individuals with nonsyndromic 46,XX testicular DSD present at birth with ambiguous genitalia. Gender role and gender identity are reported as male. If untreated, males with 46,XX testicular DSD experience the consequences of testosterone deficiency.|GeneReviews|N|
C2936421|A condition affecting gonadal and/or internal and/or external reproductive/genital development in which there is an atypical number of sex chromosomes (i.e. fewer or greater than the typical 2 X chromosomes or 1 X and 1 Y chromosome).|NCI|N|
C2936423|Echogenic bowel is defined as fetal bowel with homogenous areas of echogenicity that are equal to or greater than that of surrounding bone.|HPO|N|
C2936476|Liver failure that develops slowly and gradually for some time, possibly for years, often as the result of cirrhosis, or malnutrition.|MONDO|N|
C2936490|Occurrence of heart arrest in an individual when there is no immediate access to medical personnel or equipment.|MSH|N|
C2936664|A primary immunodeficiency characterized by low levels or absence of all the immunoglobulin classes and lack of B-lymphocytes or plasma cells. It results in recurrent bacterial infections. Complications include autoimmune phenomena and cancer development.|NCI|N|
C2936694|Swyer syndrome is a condition that affects sex development. Sex development usually follows a particular path based on an individual's chromosomes; however, in Swyer syndrome, sex development is not typical for the affected individual's chromosomal pattern.\n\nChromosomes  contain the genetic instructions for how the body develops and functions. People usually have 46 chromosomes in each cell. Two of the 46 chromosomes, known as X and Y, are called sex chromosomes because they help determine whether a person will develop male or female reproductive structures. Girls and women typically have two X chromosomes (46,XX karyotype), while boys and men typically have one X chromosome and one Y chromosome (46,XY karyotype). In Swyer syndrome, individuals have one X chromosome and one Y chromosome in each cell, which is the pattern typically found in boys and men; however, they have female reproductive structures.\n\nBecause they appear female on the outside, babies with Swyer syndrome are usually raised as girls and develop a female gender identity, which is a person's sense of their gender (girl, boy, a combination, or neither). Swyer syndrome may be identified before birth, at birth, or later when a child does not go through puberty as usual. Because they do not have functional ovaries that produce hormones, affected individuals often begin hormone replacement therapy during early adolescence to start puberty, causing the breasts and uterus to grow, and eventually leading to menstruation. Hormone replacement therapy is also important for bone health and helps reduce the risk of low bone density (osteopenia) and fragile bones (osteoporosis). Women with Swyer syndrome do not produce eggs (ova), but if they have a uterus, they may be able to become pregnant with a donated egg or embryo.\n\nPeople with Swyer syndrome have female external genitalia and some female internal reproductive structures. These individuals usually have a uterus and fallopian tubes, but their gonads (ovaries or testes) are not functional. Instead, the gonads are small and underdeveloped and contain little gonadal tissue. These structures are called  streak gonads. The streak gonadal tissue is at risk of developing cancer that is often hard-to-detect, so it is usually removed surgically. Swyer syndrome is also called 46,XY complete gonadal dysgenesis; the medical term “dysgenesis” means "abnormal development."|MedlinePlus Genetics|N|
C2936739|A condition of decreased or absent presence or activity of signal transducer and activator of transcription 3 protein. Deficiency of this protein is associated with hyper-IgE syndrome.|NCI|N|
C2936741|A rare sex chromosome number anomaly disorder characterized, genetically, by the presence of an extra X and Y chromosome in males and, clinically, by tall stature, dysfunctional testes associated with infertility and insufficient testosterone production, cognitive, affective and social functioning impairments, global developmental delay, and an increased risk of congenital malformations.|ORDO|N|
C2936755|Waldenstrom macroglobulinemia in a patient who has at least one first degree relative with either Waldenstrom macroglobulinemia or another B-cell lymphoproliferative disorder.|NCI|N|
C2936781|Myotonia congenita is characterized by muscle stiffness present from childhood; all striated muscle groups including the extrinsic eye muscles, facial muscles, and tongue may be involved. Stiffness is relieved by repeated contractions of the muscle (the "warm-up" phenomenon). Muscles are usually hypertrophic. Whereas autosomal recessive (AR) myotonia congenita is often associated with more severe manifestations (such as progressive minor distal weakness and attacks of transient weakness brought on by movement after rest), autosomal dominant (AD) myotonia congenita is not. The age of onset varies: in AD myotonia congenita onset is usually in infancy or early childhood; in AR myotonia congenita the average age of onset is slightly older. In both AR and AD myotonia congenita onset may be as late as the third or fourth decade of life.|GeneReviews|N|
C2936783|Lynch syndrome is characterized by an increased risk for colorectal cancer (CRC) and cancers of the endometrium, ovary, stomach, small bowel, urinary tract, biliary tract, brain (usually glioblastoma), skin (sebaceous adenomas, sebaceous carcinomas, and keratoacanthomas), pancreas, and prostate. Cancer risks and age of onset vary depending on the associated gene. Several other cancer types have been reported to occur in individuals with Lynch syndrome (e.g., breast, sarcomas, adrenocortical carcinoma). However, the data are not sufficient to demonstrate that the risk of developing these cancers is increased in individuals with Lynch syndrome.|GeneReviews|N|
C2936791|Cytochrome P450 oxidoreductase deficiency (PORD) is a disorder of steroidogenesis with a broad phenotypic spectrum including cortisol deficiency, altered sex steroid synthesis, disorders of sex development (DSD), and skeletal malformations of the Antley-Bixler syndrome (ABS) phenotype. Cortisol deficiency is usually partial, with some baseline cortisol production but failure to mount an adequate cortisol response in stress. Mild mineralocorticoid excess can be present and causes arterial hypertension, usually presenting in young adulthood. Manifestations of altered sex steroid synthesis include ambiguous genitalia/DSD in both males and females, large ovarian cysts in females, poor masculinization and delayed puberty in males, and maternal virilization during pregnancy with an affected fetus. Skeletal malformations can manifest as craniosynostosis, mid-face retrusion with proptosis and choanal stenosis or atresia, low-set dysplastic ears with stenotic external auditory canals, hydrocephalus, radiohumeral synostosis, neonatal fractures, congenital bowing of the long bones, joint contractures, arachnodactyly, and clubfeet; other anomalies observed include urinary tract anomalies (renal pelvic dilatation, vesicoureteral reflux). Cognitive impairment is of minor concern and likely associated with the severity of malformations; studies of developmental outcomes are lacking.|GeneReviews|N|
C2936793|A rare disease with characteristics of slowly progressive and relatively pure ataxia described in 6 patients from one Australian family to date. The disease presents with oculomotor dysfunction, moderate dysarthria, and ataxia that progresses slowly and eventually leads to mobility impairment. Some patients have also reported mild hyperreflexia in the lower limbs. Rare manifestations include gaze-evoked nystagmus and dystonia. The causal gene has not yet been identified but it has been linked to chromosome 4q34.3-q35.1.|SNOMEDCT_US|N|
C2936797|The phenotypic spectrum of lysosomal acid lipase (LAL) deficiency ranges from the infantile-onset form (Wolman disease) to later-onset forms collectively known as cholesterol ester storage disease (CESD). Wolman disease is characterized by infantile-onset malabsorption that results in malnutrition, storage of cholesterol esters and triglycerides in hepatic macrophages that results in hepatomegaly and liver disease, and adrenal gland calcification that results in adrenal cortical insufficiency. Unless successfully treated with hematopoietic stem cell transplantation (HSCT), infants with classic Wolman disease do not survive beyond age one year. CESD may present in childhood in a manner similar to Wolman disease or later in life with such findings as serum lipid abnormalities, hepatosplenomegaly, and/or elevated liver enzymes long before a diagnosis is made. The morbidity of late-onset CESD results from atherosclerosis (coronary artery disease, stroke), liver disease (e.g., altered liver function ± jaundice, steatosis, fibrosis, cirrhosis and related complications of esophageal varices, and/or liver failure), complications of secondary hypersplenism (i.e., anemia and/or thrombocytopenia), and/or malabsorption. Individuals with CESD may have a normal life span depending on the severity of disease manifestations.|GeneReviews|N|
C2936827|Focal facial dermal dysplasias (FFDD) are rare ectodermal dysplasias, with characteristics of congenital bitemporal (resembling forceps marks) or preauricular scar-like lesions associated with additional facial and or systematic manifestations. Four types of FFDD are described. Types II and III present with a variable facial dysmorphism including distichiasis (upper lashes) or lacking eyelashes, and upward slanting and thinned lateral eyebrows with a flattened nasal bridge and full upper lip. Types I and IV are infrequently associated with extra-cutaneous anomalies.|SNOMEDCT_US|N|
C2936830|A chromosomal abnormality characterized by the presence of three copies of genetic material for chromosome 13, instead of the normal two. It leads to a variety of abnormalities that include mental retardation, microcephaly, low-set ears, eye structural defects, polydactyly, and limb abnormalities.|NCI|N|
C2936858|21-hydroxylase deficiency (21-OHD) is the most common cause of congenital adrenal hyperplasia (CAH), a family of autosomal recessive disorders involving impaired synthesis of cortisol from cholesterol by the adrenal cortex. In 21-OHD CAH, excessive adrenal androgen biosynthesis results in virilization in all individuals and salt wasting in some individuals. A classic form with severe enzyme deficiency and prenatal onset of virilization is distinguished from a non-classic form with mild enzyme deficiency and postnatal onset. The classic form is further divided into the simple virilizing form (~25% of affected individuals) and the salt-wasting form, in which aldosterone production is inadequate (=75% of individuals). Newborns with salt-wasting 21-OHD CAH are at risk for life-threatening salt-wasting crises. Individuals with the non-classic form of 21-OHD CAH present postnatally with signs of hyperandrogenism; females with the non-classic form are not virilized at birth.|GeneReviews|N|
C2936859|Syndrome that is characterized by intellectual deficit, deafness, ocular anomalies, T-cell leukemia, cryptorchidism, hypospadias and spasticity. Mutations in DNA polymerase alpha, leading to increased chromosome breakage, may be responsible for the syndrome. X-linked recessive transmission has been proposed.|SNOMEDCT_US|N|
C2936860|A rare complex type of hereditary spastic paraplegia with characteristics of adult-onset spastic paraplegia associated with spinal pain that radiates to the upper or lower limbs and is related to disk herniation (with minor spondylosis), as well as mild sensorimotor neuropathy. The phenotype has been mapped to a locus on chromosome 6q23-q24.1.|SNOMEDCT_US|N|
C2936862|Bardet-Biedl syndrome is an autosomal recessive and genetically heterogeneous ciliopathy characterized by retinitis pigmentosa, obesity, kidney dysfunction, polydactyly, behavioral dysfunction, and hypogonadism (summary by Beales et al., 1999). Eight proteins implicated in the disorder assemble to form the BBSome, a stable complex involved in signaling receptor trafficking to and from cilia (summary by Scheidecker et al., 2014).
Genetic Heterogeneity of Bardet-Biedl Syndrome
BBS2 (615981) is caused by mutation in a gene on 16q13 (606151); BBS3 (600151), by mutation in the ARL6 gene on 3q11 (608845); BBS4 (615982), by mutation in a gene on 15q22 (600374); BBS5 (615983), by mutation in a gene on 2q31 (603650); BBS6 (605231), by mutation in the MKKS gene on 20p12 (604896); BBS7 (615984), by mutation in a gene on 4q27 (607590); BBS8 (615985), by mutation in the TTC8 gene on 14q32 (608132); BBS9 (615986), by mutation in a gene on 7p14 (607968); BBS10 (615987), by mutation in a gene on 12q21 (610148); BBS11 (615988), by mutation in the TRIM32 gene on 9q33 (602290); BBS12 (615989), by mutation in a gene on 4q27 (610683); BBS13 (615990), by mutation in the MKS1 gene (609883) on 17q23; BBS14 (615991), by mutation in the CEP290 gene (610142) on 12q21, BBS15 (615992), by mutation in the WDPCP gene (613580) on 2p15; BBS16 (615993), by mutation in the SDCCAG8 gene (613524) on 1q43; BBS17 (615994), by mutation in the LZTFL1 gene (606568) on 3p21; BBS18 (615995), by mutation in the BBIP1 gene (613605) on 10q25; BBS19 (615996), by mutation in the IFT27 gene (615870) on 22q12; BBS20 (619471), by mutation in the IFT172 gene (607386) on 9p21; BBS21 (617406), by mutation in the CFAP418 gene (614477) on 8q22; and BBS22 (617119), by mutation in the IFT74 gene (608040) on 9p21.
The CCDC28B gene (610162) modifies the expression of BBS phenotypes in patients who have mutations in other genes. Mutations in MKS1, MKS3 (TMEM67; 609884), and C2ORF86 also modify the expression of BBS phenotypes in patients who have mutations in other genes.
Although BBS had originally been thought to be a recessive disorder, Katsanis et al. (2001) demonstrated that clinical manifestation of some forms of Bardet-Biedl syndrome requires recessive mutations in 1 of the 6 loci plus an additional mutation in a second locus. While Katsanis et al. (2001) called this 'triallelic inheritance,' Burghes et al. (2001) suggested the term 'recessive inheritance with a modifier of penetrance.' Mykytyn et al. (2002) found no evidence of involvement of the common BBS1 mutation in triallelic inheritance. However, Fan et al. (2004) found heterozygosity in a mutation of the BBS3 gene (608845.0002) as an apparent modifier of the expression of homozygosity of the met390-to-arg mutation in the BBS1 gene (209901.0001).
Allelic disorders include nonsyndromic forms of retinitis pigmentosa: RP51 (613464), caused by TTC8 mutation, and RP55 (613575), caused by ARL6 mutation.|OMIM|N|
C2936863|BBS2 is an autosomal recessive ciliopathy characterized by retinal degeneration, polydactyly, renal disease, hypogonadism, obesity, dysmorphic features, and variable degrees of cognitive impairment (Innes et al., 2010). Mutation in the BBS2 gene is the third most frequent cause of BBS, accounting for approximately 8% of cases (Zaghloul and Katsanis, 2009).
For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (209900).|OMIM|N|
C2936864|BBS4 is a rare multisystemic disorder characterized primarily by retinal dystrophy, obesity, polydactyly, and renal dysfunction that accounts for less than 3% of BBS (Katsanis et al., 2002). Anosmia has been described in patients with BBS4 (Iannaccone et al., 2005), as well as polydactyly confined to the hands (Carmi et al., 1995).
For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (209900).|OMIM|N|
C2936879|A complex form of hereditary spastic paraplegia, with onset in childhood or adulthood of progressive spastic paraplegia (with spastic gait, spasticity, lower limb weakness, pes cavus and urinary urgency) associated with the additional manifestation of peripheral sensorimotor neuropathy. The SPG36 phenotype has been mapped to a locus on chromosome 12q23-q24.|SNOMEDCT_US|N|
C2936880|A pure form of hereditary spastic paraplegia with a childhood to adulthood-onset of slowly progressive spastic gait, extensor plantar responses, brisk tendon reflexes in arms and legs, decreased vibration sense at ankles and urinary dysfunction. Ankle clonus is also reported in some patients.|SNOMEDCT_US|N|
C2936904|X-linked Opitz G/BBB syndrome (X-OS) is a multiple-congenital-anomaly disorder characterized by facial anomalies (hypertelorism, prominent forehead, widow's peak, broad nasal bridge, anteverted nares), genitourinary abnormalities (hypospadias, cryptorchidism, and hypoplastic/bifid scrotum), and laryngotracheoesophageal defects. Developmental delay and intellectual disability are observed in about 50% of affected males. Cleft lip and/or palate are present in approximately 50% of affected individuals. Other malformations (present in <50% of individuals) include congenital heart defects, imperforate or ectopic anus, and midline brain defects (Dandy-Walker malformation and agenesis or hypoplasia of the corpus callosum and/or cerebellar vermis). Wide clinical variability occurs even among members of the same family. Female heterozygotes usually manifest hypertelorism only.|GeneReviews|N|
C2936910|Oculocerebral hypopigmentation syndrome, Cross type is a rare congenital syndrome characterized by cutaneous and ocular hypopigmentation, various ocular anomalies (e.g. corneal and lens opacity, spastic ectropium, and/or nystagmus), growth deficiency, intellectual deficit and other progressive neurologic anomalies such as spastic tetraplegia, hyperreflexia, and/or athetoid movements. The clinical picture varies among patients and may also include other anomalies such as urinary tract abnormalities, Dandy-Walker malformations, and/or bilateral inguinal hernia.|ORDO|N|
C2936918|an inflammation of the thyroid gland that frequently results in hypothyroidism (lowered thyroid function)|CHV|N|
C2937220|A vascular malformation resulting from a developmental error of venous tissue composed of dysmorphic channels lined by flattened endothelium and exhibiting slow turnover. A venous malformation may present as a blue patch on the skin ranging to a soft blue mass. Venous malformations are easily compressible and usually swell in thewhen venous pressure increases (e.g., when held in a dependent position or when a child cries). They may be relatively localized or quite extensive within an anatomic region.|HPO|N|
C2937225|A deficiency in biotin through either inherited or acquired causes.|MONDO|N|
C2937228|Disorder characterized by severe limitation or total lack of peripheral vision.|PSY|N|
C2937231|A rare cutaneous lesion presenting as a scaly verrucous plaque. Morphologically, the plaque contains nests of basaloid cells.|NCI|N|
C2937245|A neoplasm that arises from glial cells in the spinal cord. Representative examples include astrocytoma, oligodendroglioma, and ependymoma.|NCI|N|
C2937266|A rare chronic suppurative bacterial infection involving mostly subcutaneous tissues and less frequently other organs. Botryomycosis is mostly caused by Staphylococcus aureus, Escherichia coli and Pseudomonas aeruginosa but the exact pathogenesis remains uncertain. Treatment often requires a combination of both surgical debridement and long-term antimicrobial therapy.|MONDO|N|
C2937288|Generalized thyroid hormone resistance is characterized by elevated serum levels of free thyroid hormones with inappropriately elevated thyroid-stimulating hormone (TSH) as well as clinical and biochemical evidence of decreased thyroid hormone action. Affected individuals also show unresponsiveness to large doses of exogenous thyroid hormones (summary by Parrilla et al., 1991).|OMIM|N|
C2937350|Abnormality in the process of ejection of semen (usually carrying sperm) from the male reproductive tract.|HPO|N|
C2937358|Hemorrhage into the parenchyma of the brain.|HPO|N|
C2937365|Recurrent episodes of ulceration of the oral mucosa, typically presenting as painful, sharply circumscribed fibrin-covered mucosal defects with a hyperemic border.|HPO|N|
C2937419|Pentasomy X is a sex chromosome anomaly caused by the presence of three extra X chromosomes in females (49,XXXXX instead of 46,XX).|ORDO|N|
C2937421|Increase in constituent cells in the PROSTATE, leading to enlargement of the organ (hypertrophy) and adverse impact on the lower urinary tract function. This can be caused by increased rate of cell proliferation, reduced rate of cell death, or both.|MSH|N|
C2938867|An elevated concentration of urobilinogen in the urine.|HPO|N|
C2938868|An abnormally reduced concentration of urobilinogen in the urine.|HPO|N|
C2938905|Intense stimulation or persistent injury can cause plasticity of the central nociceptive circuits, synaptic plasticity and increased neuronal responsiveness in central pain pathways after painful insults is known as central sensitisation.|SNOMEDCT_US|N|
C2938912|A brighter than expected signal on magnetic resonance imaging emanating from the cerebral white matter.|HPO|N|
C2938913|A hyperdynamic process resulting from excessive vasodilatation. Impaired blood flow causes inadequate tissue perfusion, which can lead to end-organ damage|HPO|N|
C2938915|A benign condition characterized by the presence of peritoneal implants composed of mature glial tissue. It is usually accompanied by an ovarian teratoma.|NCI|N|
C2938917|A syndrome, usually presenting after midline posterior fossa tumor resection, which is characterized by abnormalities of speech, behavioral or affective disturbances, and diffuse cerebellar dysfunction.|NCI|N|
C2938918|Superficial siderosis is a rare neurologic disease characterized by progressive sensorineural hearing loss, cerebellar ataxia, pyramidal signs, and neuroimaging findings revealing hemosiderin deposits in the spinal and cranial leptomeninges and subpial layer. The disease progresses slowly and patients may present with mild cognitive impairment, nystagmus, dysmetria, spasticity, dysdiadochokinesia, dysarthria, hyperreflexia, and Babinski signs. Additional features reported include dementia, urinary incontinence, anosmia, ageusia, and anisocoria.|ORDO|N|
C2938924|A subtype of breast cancer that is estrogen-receptor positive|MONDO|N|
C2938937|A self-limiting cutaneous vasculitis that typically presents as a clinical triad of purpura, edema, and fever in children between the ages of four months and two years old. It is usually associated with a recent history of upper respiratory infection and/or antibiotic therapy.|NCI|N|
C2938983|A type of malformation of cortical development that primarily affects areas of neocortex. It can be identified on conventional magnetic resonance imaging as focal cortical thickening, abnormal gyration, and blurring between gray and white matter, often associated with clusters of heterotopic neurons.|HPO|N|
C2939175|Meconium ileus refers to intestinal obstruction due to inspissated meconium in the distal ileum and cecum, which develops in utero and presents shortly after birth as a failure to pass meconium (summary by Romi et al., 2012). Meconium ileus is a known clinical manifestation of cystic fibrosis (CF; 219700), and meconium ileus in the absence of CF is a rare phenomenon (summary by Tal et al., 1985).|OMIM|N|
C2939186|A change in disposition or state of mind.|NCI|N|
C2939415|Tremulousness (trembling) of the lens of the eye.|HPO|N|
C2939419|A neoplasm that arises from a pre-existing lower grade lesion, or as a result of a primary lesion that has spread to secondary sites, or due to a complication of a cancer treatment.|NCI|N|
C2939420|A tumor that has spread from its original (primary) site of growth to another site, close to or distant from the primary site. Metastasis is characteristic of advanced malignancies, but in rare instances can be seen in neoplasms lacking malignant morphology.|NCI|N|
C2939429|Convergence-retraction nystagmus is an irregular, jerky nystagmus in which both eyeballs rhythmically converge and retract into the orbit, particularly on attempting an upward gaze.|HPO|N|
C2939445|A carcinoma in situ involving a bronchus.|MONDO|N|
C2939461|Proliferation of myeloid cells originating from a primitive stem cell.|NCI|N|
C2939462|A plasma cell neoplasm characterized by the deposition of immunoglobulin in tissues, resulting in impaired organ function. It includes the following entities: primary amyloidosis, heavy chain deposition disease, and light chain deposition disease.|NCI|N|
C2939465|An X-linked recessive inherited disorder caused by mutations in the G6PD gene. It is characterized by the absence or presence of very low levels of glucose-6-phosphate dehydrogenase. Patients develop hemolytic anemia usually in response to infection or exposure to drugs.|NCI|N|
C2940785|A congenital hypothyroidism characterized by autosomal dominant inheritance of resistance to thyrotropin that has material basis in variation in the chromosome region 15q25.3-q26.1.|MONDO|N|
C2940786|A rare, autosomal recessive inherited disorder usually caused by mutations in the THRB gene. It is characterized by a defective physiological resistance to thyroid hormones, resulting in the elevation of thyroxin and triiodothyronine in the serum.|NCI|N|
C2945558|An vulvovaginitis caused by infection with Trichomonas vaginalis.|MONDO|N|
C2945560|Disruption of the integrity of the erythrocyte membrane causing release of hemoglobin.|NCI|N|
C2945598|Presence of teardrop-shaped red blood cells.|HPO|N|
C2945695|A ischemia that involves the limb.|MONDO|N|
C2945767|A malignant neoplasm that affects the liver and occurs during childhood.|NCI|N|
C2957116|A rare non-syndromic uterovaginal malformation characterised by a uterus that has a longitudinal septum which elongates from the uterine fundus to the internal or external cervical os. Most often women are asymptomatic, however dysmenorrhoea, unilateral obstruction and endometriosis could be observed. Unlike urinary tract abnormalities, which are very rarely associated, poor reproductive outcome is frequent.|SNOMEDCT_US|N|
C2958630|A feeling that something life-threatening or tragic is about to occur.|HPO|N|
C2959359|An abnormality of the circulatory connection between the ventricles and the pulmonary artery and aorta.|HPO|N|
C2959445|An uncommon benign proliferation of smooth muscle, blood vessels, collagenous stroma, and adipocytes, most commonly affecting inguinal lymph node.|MONDO|N|
C2959585|A rare large, multinodular, usually benign, tumor that is generally located in the posterior part of the scalp in aged women (over 50 years). It first appears as a painless nodule that later grows into a solid or partially cystic tumor that is mobile over the underlying subcutaneous tissues. It can present ulceration, inflammation or even bleeding and can cause necrosis of the adjacent tissues.|ORDO|N|
C2959688|Abnormality of the spatial relationship of the atria to other components of the heart.|HPO|N|
C2960113|A cataract disease in which the cataract contains some transparent protein|MONDO|N|
C2960192|A rare nonmalignant hepatic lesion characterized by a mass with a completely necrotic core often partially calcified, surrounded by a dense hyalinized fibrous capsule containing elastin fibers. Patients are usually asymptomatic but some may suffer from intermittent abdominal pain or discomfort.|ORDO|N|
C2960310|Congenital alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is characterized histologically by failure of formation and ingrowth of alveolar capillaries that then do not make contact with alveolar epithelium, medial muscular thickening of small pulmonary arterioles with muscularization of the intraacinar arterioles, thickened alveolar walls, and anomalously situated pulmonary veins running alongside pulmonary arterioles and sharing the same adventitial sheath. Less common features include a reduced number of alveoli and a patchy distribution of the histopathologic changes. The disorder is associated with persistent pulmonary hypertension of the neonate and shows varying degrees of lability and severity (Boggs et al., 1994). Affected infants present with respiratory distress resulting from pulmonary hypertension in the early postnatal period, and the disease is uniformly fatal within the newborn period (Vassal et al., 1998). Additional features of ACDMPV include multiple congenital anomalies affecting the cardiovascular, gastrointestinal, genitourinary, and musculoskeletal systems, as well as disruption of the normal right-left asymmetry of intrathoracic or intraabdominal organs (Sen et al., 2004).|OMIM|N|
C2960319|A benign lesion that usually affects the proximal small bones of the hands or feet. Grossly it consists of a cartilage cap and a bony stalk. Microscopically it is characterized by the presence of spindle cells, cartilage, and bone, usually in a disorganized pattern compared to subungual exostosis. Enlarged (bizarre) chondrocytes are present in the cartilage. Swelling with or without pain is present. Recurrences following resection have been reported in approximately half of cases.|NCI|N|
C2960452|A carcinoma involving a uterus.|MONDO|N|
C2960760|Deposition of calcium salts in muscle tissue.|HPO|N|
C2964485|The cross-sectional size (diameter) of the midpiece of the spermatozoon is below the lower limit of normal. This term applies if the proportion of spermatozoa with this defect is above the upper limit of normal.|HPO|N|
C2973527|Some researchers believe that dentinogenesis imperfecta type II and type III, along with a condition called dentin dysplasia type II, are actually forms of a single disorder. The signs and symptoms of dentin dysplasia type II are very similar to those of dentinogenesis imperfecta.  However, dentin dysplasia type II affects the primary teeth much more than the permanent teeth.\n\nResearchers have described three types of dentinogenesis imperfecta with similar dental abnormalities. Type I occurs in people who have osteogenesis imperfecta, a genetic condition in which bones are brittle and easily broken. Dentinogenesis imperfecta type II and type III usually occur in people without other inherited disorders. A few older individuals with type II have had progressive high-frequency hearing loss in addition to dental abnormalities, but it is not known whether this hearing loss is related to dentinogenesis imperfecta.\n\nDentinogenesis imperfecta is a disorder of tooth development. This condition causes the teeth to be discolored (most often a blue-gray or yellow-brown color) and translucent. Teeth are also weaker than normal, making them prone to rapid wear, breakage, and loss. These problems can affect both primary (baby) teeth and permanent teeth.|MedlinePlus Genetics|N|
C2973529|A type of vasculitis characterized by the presence of debris of neutrophils within the blood vessel walls.|HPO|N|
C2973725|Pulmonary hypertension is defined mean pulmonary artery pressure of 25mmHg or more and pulmonary capillary wedge pressure of 15mmHg or less when measured by right heart catheterisation at rest and in a supine position.|HPO|N|
C2977401|A pregnancy involving two fetuses that share the same chorion but have separate amniotic sacs.|NCI|N|
C2977407|A pregnancy involving two fetuses that each have separate chorions and amniotic sacs.|NCI|N|
C2979888|A spotted fever that has material basis in Rickettsia australis, which is transmitted by ticks (Ixodes holocyclus). The infection has symptom fever, has symptom headache, has symptom myalgia, has symptom maculopapular rash, and has symptom lymphadenopathy.|MONDO|N|
C2979973|A fetal position during delivery in which the head of the fetus descends into the maternal pelvis.|NCI|N|
C2979982|Bleeding originating from the vagina.|NCI|N|
C2980042|Stage IIIC includes: Any T, N3, M0. N3: Metastases in ipsilateral infraclavicular (level III) axillary lymph nodes(s) with or without level I, II axillary lymph node involvement; or in clinically detected ipsilateral internal mammary lymph node(s) with clinically evident level I, II axillary lymph node metastases; or metastases in ipsilateral supraclavicular lymph node(s) with or without axillary or internal mammary lymph node involvement. M0: No clinical or radiographic evidence of distant metastasis. M0 includes M0(i+). (AJCC 7th Ed.)|NCI|N|
C2980104|A mycosis that is limited to the stratum corneum and essentially elicits no inflammation.|MONDO|N|
C2981140|Structural abnormalities that impede fluid drainage in the eye increase ocular pressure. These abnormalities may be present at birth and usually become apparent during the first year of life. Such structural abnormalities may be part of a genetic disorder that affects many body systems, called a syndrome. If glaucoma appears before the age of 3 without other associated abnormalities, it is called primary congenital glaucoma.\n\nOther individuals experience early onset of primary open-angle glaucoma, the most common adult form of glaucoma. If primary open-angle glaucoma develops during childhood or early adulthood, it is called juvenile open-angle glaucoma.\n\nUsually glaucoma develops in older adults, in whom the risk of developing the disorder may be affected by a variety of medical conditions including high blood pressure (hypertension) and diabetes mellitus, as well as family history. The risk of early-onset glaucoma depends mainly on heredity.\n\nIn most people with glaucoma, the damage to the optic nerves is caused by increased pressure within the eyes (intraocular pressure). Intraocular pressure depends on a balance between fluid entering and leaving the eyes.\n\nGlaucoma is a group of eye disorders in which the optic nerves connecting the eyes and the brain are progressively damaged. This damage can lead to reduction in side (peripheral) vision and eventual blindness. Other signs and symptoms may include bulging eyes, excessive tearing, and abnormal sensitivity to light (photophobia). The term "early-onset glaucoma" may be used when the disorder appears before the age of 40.|MedlinePlus Genetics|N|
C2981141|Tissue degeneration and diminished size of the thyroid gland.|NCI|N|
C2981150|Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).|HPO|N|
C2981160|Stage 0 includes: Tis, N0, M0. Tis: Carcinoma in situ. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th ed.)|NCI|N|
C2981176|Stage I includes: (T1, N0, M0). T1: Tumor invades subepithelial connective tissue. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th ed.)|NCI|N|
C2981177|Stage II includes: (T1, N1, M0); (T2, N0, M0); (T2, N1, M0). T1: Tumor invades subepithelial connective tissue. N0: No regional lymph node metastasis. N1: Metastasis in a single superficial, inguinal lymph node. M0: No distant metastasis. (AJCC 6th ed.)|NCI|N|
C2981178|Stage III includes: (T1, N2, M0); (T2, N2, M0); (T3, N0, M0); (T3, N1, M0); (T3, N2, M0). T1: Tumor invades subepithelial connective tissue. T2: Tumor invades corpus spongiosum or cavernosum. T3: Tumor invades urethra or prostate. N0: No regional lymph node metastasis. N1: Metastasis in single superficial, inguinal lymph node. N2: Metastasis in multiple or bilateral superficial inguinal lymph nodes. M0: No distant metastasis. (AJCC 6th ed.)|NCI|N|
C2981179|Colorectal cancer which directly invades other organs or structures.|NCI|N|
C2981180|Colorectal cancer which penetrates the visceral peritoneum.|NCI|N|
C2981195|A finding about one or more characteristics of prostate cancer, following the rules of the TNM AJCC v6 classification system.|NCI|N|
C2981196|Prostate cancer extending beyond the capsule of the prostate gland, without involvement of the seminal vesicles. (from AJCC 6th Ed.)|NCI|N|
C2981197|Prostate cancer extending beyond the capsule of the prostate gland, with involvement of the bladder and/or rectum. (from AJCC 6th Ed.)|NCI|N|
C2981203|A finding about one or more characteristics of cutaneous melanoma, following the rules of the TNM AJCC v6 classification system.|NCI|N|
C2981205|A pathologic finding about one or more characteristics of cutaneous melanoma, following the rules of the TNM AJCC v6 classification system. TNM pathologic findings are based on clinical findings supplemented by histopathologic examination of one or more tissue specimens acquired during surgery.|NCI|N|
C2981206|Cutaneous melanoma in which the primary tumor cannot be assessed. (from AJCC 6th Ed.)|NCI|N|
C2981207|Cutaneous melanoma 1.0mm or less in thickness, with or without ulceration. (from AJCC 6th Ed.)|NCI|N|
C2981208|Cutaneous melanoma 1.0mm or less in thickness and Clark level II or III, with no ulceration. (from AJCC 6th Ed.)|NCI|N|
C2981209|Cutaneous melanoma 1.0mm or less in thickness, with ulceration and/or Clark level IV or V. (from AJCC 6th Ed.)|NCI|N|
C2981210|Cutaneous melanoma in which the regional lymph nodes cannot be assessed. (from AJCC 6th Ed.)|NCI|N|
C2981211|Cutaneous melanoma with involvement of one lymph node. (from AJCC 6th Ed.)|NCI|N|
C2981212|Cutaneous melanoma with microscopic, clinically occult metastasis to a single lymph node. (from AJCC 6th Ed.)|NCI|N|
C2981213|Cutaneous melanoma with macroscopic, clinically apparent metastasis to a single lymph node. (from AJCC 6th Ed.)|NCI|N|
C2981214|Cutaneous melanoma involving two to three regional lymph nodes, or involving the regional intra-lymphatic system without nodal involvement. (from AJCC 6th Ed.)|NCI|N|
C2981215|Cutaneous melanoma with microscopic, clinically occult metastasis to two or three regional lymph nodes. (from AJCC 6th Ed.)|NCI|N|
C2981216|Cutaneous melanoma with macroscopic, clinically apparent metastasis to two or three regional lymph nodes. (from AJCC 6th Ed.)|NCI|N|
C2981217|Cutaneous melanoma without involvement of regional lymph nodes, with satellite or in-transit metastasis. (from AJCC 6th Ed.)|NCI|N|
C2981218|Cutaneous melanoma with distant metastasis. (from AJCC 6th Ed.)|NCI|N|
C2981219|Cutaneous melanoma with metastasis to skin, subcutaneous tissues or distant lymph nodes. (from AJCC 6th Ed.)|NCI|N|
C2981220|Cutaneous melanoma with metastasis to lung. (from AJCC 6th Ed.)|NCI|N|
C2981221|A pathologic finding about one or more characteristics of prostate cancer, following the rules of the TNM AJCC v6 classification system as they pertain to staging of the primary tumor. TNM pathologic primary tumor findings are based on clinical findings supplemented by histopathologic examination of one or more tissue specimens acquired during surgery.|NCI|N|
C2981222|A pathologic finding about one or more characteristics of prostate cancer, following the rules of the TNM AJCC v6 classification system as they pertain to staging of regional lymph nodes. TNM pathologic regional lymph nodes findings are based on clinical findings supplemented by histopathologic examination of one or more tissue specimens acquired during surgery.|NCI|N|
C2981223|A pathologic finding about one or more characteristics of prostate cancer, following the rules of the TNM AJCC v6 classification system as they pertain to distant metastases. TNM pathologic distant metastasis findings are based on clinical findings supplemented by histopathologic examination of one or more tissue specimens acquired during surgery.|NCI|N|
C2981224|A pathologic finding about one or more characteristics of cutaneous melanoma, following the rules of the TNM AJCC v6 classification system as they pertain to staging of regional lymph nodes. TNM pathologic regional lymph nodes findings are based on clinical findings supplemented by histopathologic examination of one or more tissue specimens acquired during surgery.|NCI|N|
C2981225|A pathologic finding about one or more characteristics of cutaneous melanoma, following the rules of the TNM AJCC v6 classification system as they pertain to staging of the primary tumor. TNM pathologic primary tumor findings are based on clinical findings supplemented by histopathologic examination of one or more tissue specimens acquired during surgery.|NCI|N|
C2981226|A pathologic finding about one or more characteristics of cutaneous melanoma, following the rules of the TNM AJCC v6 classification system as they pertain to distant metastases. TNM pathologic distant metastasis findings are based on clinical findings supplemented by histopathologic examination of one or more tissue specimens acquired during surgery.|NCI|N|
C2981227|A clinical finding about one or more characteristics of cutaneous melanoma, following the rules of the TNM AJCC v6 classification system. TNM clinical findings are based on information obtained prior to the first definitive treatment through physical examination, diagnostic imaging, endoscopy, biopsy or laboratory testing.|NCI|N|
C2981228|Stage II includes IIA (T3, N0, M0) and IIB (T4, N0, M0). T3: Tumor invades through the muscularis propria into the subserosa, or into nonperitonealized pericolic or perirectal tissues. T4: Tumor directly invades other organs or structures, and/or perforates the visceral peritoneum. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th ed.)|NCI|N|
C2981236|Stage III includes: IIIA (T1-T2, N1, M0); IIIB (T3-T4, N1, M0); IIIC (Any T, N2, M0). N1: Metastasis in 1 to 3 regional lymph nodes. N2: Metastasis in 4 or more regional lymph nodes. M0: No distant metastasis. (AJCC 6th ed.)|NCI|N|
C2981237|Stage IV includes: Any T, Any N, M1. M1: Distant metastasis. (AJCC 6th ed.)|NCI|N|
C2981238|Prostate cancer in which the status of distant metastasis cannot be assessed. (from AJCC 6th Ed.)|NCI|N|
C2981251|Stage IVA includes: (T4a, N0, M0); (T4a, N1, M0); (T1, N2, M0); (T2, N2, M0); (T3, N2, M0); (T4a, N2, M0); T4a: Maxillary sinus: Moderately advanced local disease. Tumor invades anterior orbital contents, skin of cheek, pterygoid plates, infratemporal fossa, cribriform plate, sphenoid or frontal sinuses. Nasal cavity and ethmoid sinus: Moderately advanced local disease. Tumor invades any of the following: anterior orbital contents, skin of nose or cheek, minimal extension to anterior cranial fossa, pterygoid plates, sphenoid or frontal sinuses. T1: Maxillary sinus: Tumor limited to the maxillary sinus mucosa with no erosion or destruction of bone. Nasal cavity and ethmoid sinus: Tumor restricted to any one subsite, with or without bony invasion. T2: Maxillary sinus: Tumor causing bone erosion or destruction including extension into the hard palate and/or middle nasal meatus, except extension to posterior wall of maxillary sinus and pterygoid plates. Nasal cavity and ethmoid sinus: Tumor invading two subsites in a single region or extending to involve an adjacent region within the nasoethmoidal complex, with or without bony invasion. T3: Maxillary sinus: Tumor invading any of the following: bone of the posterior wall of maxillary sinus, subcutaneous tissues, floor or medial wall of orbit, pterygoid fossa, or ethmoid sinuses. Nasal cavity and ethmoid sinus: Tumor invading the medial wall or floor of the orbit, maxillary sinus, palate, or cribriform plate. N0: No regional lymph node metastasis. N1: Metastasis in a single ipsilateral lymph node, 3 cm or less in greatest dimension. N2: Metastasis in a single ipsilateral lymph node, more than 3 cm but not more than 6 cm in greatest dimension, or in multiple ipsilateral lymph nodes, none more than 6 cm in greatest dimension, or in bilateral or contralateral lymph nodes, none more than 6 cm in greatest dimension. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C2981252|Stage IVB includes: (T4b, Any N, M0); (Any T, N3, M0). T4b: Very advanced local disease. Tumor invades any of the following: orbital apex, dura, brain, middle cranial fossa, cranial nerves other than maxillary division of trigeminal nerve, nasopharynx, or clivus. N3: Metastasis in a lymph node, more than 6 cm in greatest dimension. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C2981253|Stage IVC includes: Any T, Any N, M1. M1: Distant metastasis. (AJCC 7th ed.)|NCI|N|
C2981256|Stage III includes: T3, N0, M0. T3: Mucosal disease N0: No regional lymph node metastases. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C2981257|Stage IVA includes: (T4a, N0, M0); (T3-T4a, N1, M0). T4a: Moderately advanced disease. Tumor involves deep soft tissue, cartilage, bone, or overlying skin. T3: Mucosal disease. N0: No regional lymph node metastases. N1: Tumor with regional lymph node metastases. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C2981258|Stage IVB includes: T4b, Any N, M0. T4b: Very advanced disease. Tumor involves brain, dura, skull base, lower cranial nerves (IX, X, XI, XII), masticator space, carotid artery, prevertebral space, or mediastinal structures. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C2981259|Stage IVC includes: Any T, Any N, M1. M1: Distant metastasis. (AJCC 7th ed.)|NCI|N|
C2981267|Stage I includes: Under 45 years: Any T, Any N, M0. 45 years and older: T1, N0, M0. T1: Tumor size 2 cm or less in greatest dimension, limited to the thyroid gland. N0: No regional lymph node metastasis. M0: No evidence of distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2981268|Stage II includes: Under 45 years: Any T, Any N, M1. 45 years and older: T2, N0, M0. T2: Tumor more than 2 cm but not more than 4 cm in greatest dimension, limited to the thyroid gland. N0: No regional lymph node metastasis. M1: Distant metastasis. M0: No evidence of distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2981269|Stage III includes: (T3, N0, M0); (T1, N1a, M0); (T2, N1a, M0); (T3, N1a, M0). T3: Tumor greater than 4 cm in greatest dimension and limited to the thyroid gland, or tumor of any size with minimal extrathyroid extension (e.g., extension to sternothyroid muscle or perithyroid soft tissues). T1: Tumor size 2 cm or less in greatest dimension, limited to the thyroid gland. T2: Tumor more than 2 cm but not more than 4 cm in greatest dimension, limited to the thyroid gland. N0: No regional lymph node metastasis. N1a: Metastasis to pretracheal, paratracheal or prelaryngeal/Delphian lymph nodes (Level VI lymph nodes). M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C2981270|Stage IVA includes: (T4a, N0, M0); (T4a, N1a, M0); (T1, N1b, M0); (T2, N1b, M0); (T3, N1b, M0); (T4a, N1b, M0). T4a: Moderately advanced local disease. Tumor of any size extending beyond the thyroid gland capsule to invade subcutaneous soft tissues, larynx, trachea, esophagus, or recurrent laryngeal nerve. T1: Tumor size 2 cm or less in greatest dimension, limited to the thyroid gland. T2: Tumor more than 2 cm but not more than 4 cm in greatest dimension, limited to the thyroid gland. T3: Tumor more than 4 cm in greatest dimension and limited to the thyroid gland, or tumor of any size with minimal extrathyroid extension (e.g., extension to sternothyroid muscle or perithyroid soft tissues). N0: No regional lymph node metastasis. N1a: Metastasis to pretracheal, paratracheal or prelaryngeal/Delphian lymph nodes (Level VI lymph nodes). N1b: Metastasis to unilateral, bilateral or contralateral cervical (Levels I, II, III, IV, or V) or retropharyngeal or superior mediastinal lymph nodes (Level VII). M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C2981271|Stage IVB includes: T4b, Any N, M0. T4b: Very advanced disease. Tumor invades prevertebral fascia or encases carotid artery or mediastinal vessels. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C2981272|Stage IVC includes: Any T, Any N, M1. M1: Distant metastasis. (AJCC 7th ed.)|NCI|N|
C2981273|Stage IVA includes: (T4a, N0, M0); (T4a, N1a, M0); (T1, N1b, M0); (T2, N1b, M0); (T3, N1b, M0); (T4a, N1b, M0). T4a: Moderately advanced local disease. Tumor of any size extending beyond the thyroid gland capsule to invade subcutaneous soft tissues, larynx, trachea, esophagus, or recurrent laryngeal nerve. T1: Tumor size 2 cm or less in greatest dimension, limited to the thyroid gland. T2: Tumor more than 2 cm but not more than 4 cm in greatest dimension, limited to the thyroid gland. T3: Tumor more than 4 cm in greatest dimension and limited to the thyroid gland, or tumor of any size with minimal extrathyroid extension (e.g., extension to sternothyroid muscle or perithyroid soft tissues). T4b: Very advanced disease. Tumor invades prevertebral fascia or encases carotid artery or mediastinal vessels. N0: No regional lymph node metastasis. N1a: Metastasis to pretracheal, paratracheal or prelaryngeal/Delphian lymph nodes (Level VI lymph nodes). N1b: Metastasis to unilateral, bilateral or contralateral cervical (Levels I, II, III, IV, or V) or retropharyngeal or superior mediastinal lymph nodes (Level VII). M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C2981274|Stage IVB includes: T4b, Any N, M0. T4b: Very advanced disease. Tumor invades prevertebral fascia or encases carotid artery or mediastinal vessels. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C2981275|Stage IVC includes: Any T, Any N, M1. M1: Distant metastasis. (AJCC 7th ed.)|NCI|N|
C2981276|Stage IVA includes: T4a, Any N, M0. T4a: Intrathyroidal anaplastic carcinoma. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C2981277|Stage IVB includes: T4b, Any N, M0. T4b: Anaplastic carcinoma with gross extrathyroid extension. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C2981278|Stage IVC includes: Any T, Any N, M1. M1: Distant metastasis. (AJCC 7th ed.)|NCI|N|
C2981344|Stage I includes: IA: (TI, N0, M0) and IB: (T2, N0, M0). TI: Tumor 3 cm or less in greatest dimension surrounded by lung or visceral pleura, without bronchoscopic evidence of invasion more proximal than the lobar bronchus. T2: Tumor with any of the following features of size or extent: More than 3cm in greatest dimension. Involves main bronchus, 2cm or more distal to the carina. Invades the visceral pleura. N0: No regional lymph metastasis. M0: No distant metastasis. (AJCC 6th ed.)|NCI|N|
C2981348|Stage III includes: IIIA (T1, N2, M0); (T2, N2, M0); (T3, N1,M0); (T3, N2, M0) or IIIB (Any T, N3, M0); (T4, Any N, M0). N1: Metastasis to ipsilateral peribronchial and/or ipsilateral hilar lymph nodes, and intrapulmonary nodes including involvement by direct extension of the primary tumor. N2: Metastasis to ipsilateral mediastinal and/or subcarinal lymph node(s). N3: Metastasis to contralateral mediastinal, contralateral hilar, ipsilateral or contralateral scalene, or supraclavicular lymph node(s). T1: Tumor is 3 cm or less in greatest dimension, surrounded by lung or visceral pleura, and without bronchoscopic evidence of invasion more proximal than the lobar bronchus. T2: Tumor has any of the following features of size or extent: more than 3 cm in greatest dimension; involves the main bronchus, 2 cm or more distal to the carina; invades the visceral pleura; associated with atelectasis or obstructive pneumonitis that extends to the hilar region but does not involve the entire lung. T3: Tumor (of any size) directly invades any of the following: chest wall (including superior sulcus tumors), diaphragm, mediastinal pleura, parietal pericardium; or tumor in the main bronchus less than 2 cm distal to the carina but without involvement of the carina; or associated atelectasis or obstructive pneumonitis of the entire lung. T4: Tumor of any size that invades any of the following: mediastinum, heart, great vessels, trachea, esophagus, vertebral body, carina; or separate tumor nodules in the same lobe; or tumor with a malignant pleural effusion. M0: No distant metastasis. (AJCC 6th ed.)|NCI|N|
C2981352|Stage IV includes: Any T, Any N, M1. M1: Distant metastasis present. (AJCC 6th ed.)|NCI|N|
C2981363|Stage IIA includes: (T3, N0, M0); (T2, N1, M0); (T1, N2, M0). T1: Tumor invades lamina propria, muscularis mucosae, or submucosa. T2: Tumor invades the muscularis propria. T3: Tumor penetrates subserosal connective tissue without invasion of visceral peritoneum or adjacent structures. N0: No regional lymph node metastasis. N1: Metastasis in 1-2 regional lymph nodes. N2: Metastasis in 3-6 regional lymph nodes. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C2981364|Stage IIB includes: (T4a, N0, M0); (T3, N1, M0); (T2, N2, M0); (T1, N3, M0). T1: Tumor invades lamina propria, muscularis mucosae, or submucosa. T2: Tumor invades the muscularis propria. T3: Tumor penetrates subserosal connective tissue without invasion of visceral peritoneum or adjacent structures. T4a: Tumor invades serosa (visceral peritoneum). N0: No regional lymph node metastasis. N1: Metastasis in 1-2 regional lymph nodes. N2: Metastasis in 3-6 regional lymph nodes. N3: Metastasis in seven or more regional lymph nodes. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C2981365|Stage IIIC includes: (T4b, N2, M0); (T4b, N3, M0); (T4a, N3, M0). T4a: Tumor invades serosa (visceral peritoneum). T4b: Tumor invades adjacent structures. N2: Metastasis in 3-6 regional lymph nodes. N3: Metastasis in seven or more regional lymph nodes. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C2981368|Stage IA includes: T1, N0, M0, G1, GX, Tumor location: Any. T1: Tumor invades lamina propria, muscularis mucosae, or submucosa. N0: No regional lymph node metastasis. M0: No distant metastasis. G1: Well differentiated. GX: Grade cannot be assessed-stage grouping as G1. Tumor location: Location of the primary cancer site is defined by the position of the upper (proximal) edge of the tumor in the esophagus. (AJCC 7th ed.)|NCI|N|
C2981369|Stage IB includes: (T1, N0, M0, G2-3, Tumor location: Any); (T2-3, N0, M0, G1, GX, Tumor location: Lower, X). T1: Tumor invades lamina propria, muscularis mucosae, or submucosa. T2: Tumor invades muscularis propria. T3: Tumor invades adventitia. N0: No regional lymph node metastasis. M0: No distant metastasis. G1: Well differentiated. GX: Grade cannot be assessed-stage grouping as G1. G2: Moderately differentiated. G3: Poorly differentiated. Tumor location: Location of the primary cancer site is defined by the position of the upper (proximal) edge of the tumor in the esophagus. (AJCC 7th ed.)|NCI|N|
C2981370|Stage IA includes: T1, N0, M0, G1-2, X. T1: Tumor invades lamina propria, muscularis mucosae, or submucosa. N0: No regional lymph node metastasis. M0: No distant metastasis. G1: Well differentiated. G2: Moderately differentiated. GX: Grade cannot be assessed-stage grouping as G1. (AJCC 7th ed.)|NCI|N|
C2981371|Stage IB includes: (T1, N0, M0, G3); (T2, N0, M0, G1-2, GX). T1: Tumor invades lamina propria, muscularis mucosae, or submucosa. T2: Tumor invades muscularis propria. N0: No regional lymph node metastasis. M0: No distant metastasis. G1: Well differentiated. G2: Moderately differentiated. G3: Poorly differentiated. GX: Grade cannot be assessed-stage grouping as G1. (AJCC 7th ed.)|NCI|N|
C2981372|Stage IIIA includes: (T1-2, N2, M0, Any G); (T3, N1, M0, Any G); (T4a, N0, M0, Any G). T1: Tumor invades lamina propria, muscularis mucosae, or submucosa. T2: Tumor invades muscularis propria. T3: Tumor invades adventitia. T4a: Resectable tumor invading pleura, pericardium, or diaphragm. N0: No regional lymph node metastasis. N1: Metastasis in 1-2 regional lymph nodes. N2: Metastasis in 3-6 regional lymph nodes. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C2981373|Stage IIIB includes: T3, N2, M0, Any G. T3: Tumor invades adventitia. N2: Metastasis in 3-6 regional lymph nodes. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C2981374|Stage IIIC includes: (T4a, N1-2, M0, Any G); (T4b, Any N, M0, Any G); (Any T, N3, M0, Any G). T4a: Resectable tumor invading pleura, pericardium, or diaphragm. T4b: Unresectable tumor invading other adjacent structures, such as aorta, vertebral body, trachea, etc. N1: Metastasis in 1-2 regional lymph nodes. N2: Metastasis in 3-6 regional lymph nodes. N3: Metastasis in seven or more regional lymph nodes. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C2981375|Stage IIIA includes: (T1-2, N2, M0, Any G, Tumor location: Any); (T3, N1, M0, Any G, Tumor location: Any); (T4a, N0, M0, Any G, Tumor location: Any). T1: Tumor invades lamina propria, muscularis mucosae, or submucosa. T2: Tumor invades muscularis propria. T3: Tumor invades adventitia. T4a: Resectable tumor invading pleura, pericardium, or diaphragm. N0: No regional lymph node metastasis. N1: Metastasis in 1-2 regional lymph nodes. N2: Metastasis in 3-6 regional lymph nodes. M0: No distant metastasis. Tumor location: Location of the primary cancer site is defined by the position of the upper (proximal) edge of the tumor in the esophagus. (AJCC 7th ed.)|NCI|N|
C2981376|Stage IIIB includes: T3, N2, M0, Any G, Tumor location: Any. T3: Tumor invades adventitia. N2: Metastasis in 3-6 regional lymph nodes. M0: No distant metastasis. Tumor location: Location of the primary cancer site is defined by the position of the upper (proximal) edge of the tumor in the esophagus. (AJCC 7th ed.)|NCI|N|
C2981377|Stage IIIC includes: (T4a, N1-2, M0, Any G, Tumor location: Any); (T4b, Any N, M0, Any G, Tumor location: Any); (Any T, N3, M0, Any G, Tumor location: Any). T4a: Resectable tumor invading pleura, pericardium, or diaphragm. T4b: Unresectable tumor invading other adjacent structures, such as aorta, vertebral body, trachea, etc. N1: Metastasis in 1-2 regional lymph nodes. N2: Metastasis in 3-6 regional lymph nodes. N3: Metastasis in seven or more regional lymph nodes. M0: No distant metastasis. Tumor location: Location of the primary cancer site is defined by the position of the upper (proximal) edge of the tumor in the esophagus. (AJCC 7th ed.)|NCI|N|
C2981378|Stage IIA includes: T3, N0, M0. T3: Tumor invades through the muscularis propria into the subserosa or into the nonperitonealized perimuscular tissue (mesentery or retroperitoneum) with extension 2 cm or less. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C2981379|Stage IIB includes: T4, N0, M0. T4: Tumor perforates the visceral peritoneum or directly invades other organs or structures (including other loops of small intestine, mesentery, or retroperitoneum more than 2 cm, and abdominal wall by way of serosa; for duodenum only, invasion of pancreas or bile duct). N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C2981380|Stage IIIA includes: Any T, N1, M0. N1: Metastasis in 1-3 regional lymph nodes. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C2981381|Stage IIIB includes: Any T, N2, M0. N2: Metastasis in four or more regional lymph nodes. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C2981383|A non-Hodgkin or Hodgkin lymphoma that has spread to the central nervous system following the initial presentation in another nodal or extranodal site.|NCI|N|
C2981384|Stage I includes: (T1, N0, M0); (T2, N0, M0). T1: Tumor invades submucosa. T2: Tumor invades muscularis propria. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C2981385|Stage IIA includes: T3, N0, M0. T3: Tumor invades through the muscularis propria into subserosa or into mesoappendix. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C2981386|Stage IIB includes: T4a, N0, M0. T4a: Tumor penetrates visceral peritoneum including mucinous peritoneal tumor within the right lower quadrant. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C2981387|Stage IIC includes: T4b, N0, M0. T4b: Tumor directly invades other organs or structures. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C2981388|Stage IIIA includes: (T1, N1, M0); (T2, N1, M0). T1: Tumor invades submucosa. T2: Tumor invades muscularis propria. N1: Metastasis in 1-3 regional lymph nodes. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C2981389|Stage IIIB includes: (T3, N1, M0); (T4, N1, M0). T3: Tumor invades through the muscularis propria into subserosa or into mesoappendix. T4: Tumor penetrates visceral peritoneum including mucinous peritoneal tumor within the right lower quadrant and/or directly invades other organs or structures. N1: Metastasis in 1-3 regional lymph nodes. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C2981390|Stage IIIC includes: Any T, N2, M0. N2: Metastasis in four or more regional lymph nodes. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C2981391|Stage IVA includes: Any T, N0, M1a, G1. N0: No regional lymph node metastasis. M1a: Intraperitoneal metastasis beyond the right lower quadrant, including pseudomyxoma peritonei. G1: Well differentiated tumor. (AJCC 7th ed.)|NCI|N|
C2981392|Stage IVB includes: (Any T, N0, M1a, G2, G3); (Any T, N1, M1a, Any G); (Any T, N2, M1a, Any G). N0: No regional lymph node metastasis. N1: Metastasis in 1-3 regional lymph nodes. N2: Metastasis in four or more regional lymph nodes. M1a: Intraperitoneal metastasis beyond the right lower quadrant, including pseudomyxoma peritonei. G2: Moderately differentiated tumor. G3: Poorly differentiated tumor. (AJCC 7th ed.)|NCI|N|
C2981393|Stage IVC includes: Any T, Any N, M1b, Any G. M1b: Nonperitoneal metastasis. (AJCC 7th ed.)|NCI|N|
C2981394|Stage I includes: T1, N0, M0. T1: Tumor 2 cm or less in greatest dimension. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C2981395|Stage II includes: T2, T3, N0, M0. T2: Tumor more than 2 cm but not more than 4 cm or with extension to the cecum. T3: Tumor more than 4 cm or with extension to the ileum. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C2981396|Stage III includes: (T4, N0, M0); (Any T, N1, M0). T4: Tumor directly invades other adjacent organs or structures, e.g., abdominal wall and skeletal muscle. N0: No regional lymph node metastasis. N1: Regional lymph node metastasis. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C2981397|Stage IV includes: Any T, Any N, M1. M1: Distant metastasis. (AJCC 7th ed.)|NCI|N|
C2981398|Stage IIA includes: T3, N0, M0. T3: Tumor invades through the muscularis propria into pericolorectal tissues. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C2981399|Stage IIB includes: T4a, N0, M0. T4a: Tumor penetrates to the surface of the visceral peritoneum. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C2981400|Stage IIC includes: T4b, N0, M0. T4b: Tumor directly invades or is adherent to other organs or structures. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C2981401|Stage IIIA includes: (T1-T2, N1/N1c, M0); (T1, N2a, M0). T1: Tumor invades submucosa. T2: Tumor invades muscularis propria. N1: Metastasis in 1-3 regional lymph nodes. N1c: Tumor deposit(s) in the subserosa, mesentery, or nonperitonealized pericolic or perirectal tissues without regional lymph node metastasis. N2a: Metastasis in 4-6 regional lymph nodes. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C2981402|Stage IIIB includes: (T3-T4a, N1/N1c, M0); (T2-T3, N2a, M0); (T1-T2, N2b, M0). T1: Tumor invades submucosa. T2: Tumor invades muscularis propria. T3: Tumor invades through the muscularis propria into pericolorectal tissues. T4a: Tumor penetrates to the surface of the visceral peritoneum. N1: Metastasis in 1-3 regional lymph nodes. N1c: Tumor deposit(s) in the subserosa, mesentery, or nonperitonealized pericolic or perirectal tissues without regional lymph node metastasis. N2a: Metastasis in 4-6 regional lymph nodes. N2b: Metastasis in seven or more regional lymph nodes. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C2981403|Stage IIIC includes: (T4a, N2a, M0); (T3-T4a, N2b, M0); (T4b, N1-N2, M0). T3: Tumor invades through the muscularis propria into pericolorectal tissues. T4a: Tumor penetrates to the surface of the visceral peritoneum. T4b: Tumor directly invades or is adherent to other organs or structures. N1: Metastasis in 1-3 regional lymph nodes. N2: Metastasis in four or more regional lymph nodes. N2a: Metastasis in 4-6 regional lymph nodes. N2b: Metastasis in seven or more regional lymph nodes. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C2981404|Stage IVA includes: Any T, Any N, M1a. M1a: Metastasis confined to one organ or site (e.g., liver, lung, ovary, nonregional node). (AJCC 7th ed.)|NCI|N|
C2981405|Stage IVB includes: Any T, Any N, M1b. M1b: Metastases in more than one organ/site or the peritoneum. (AJCC 7th ed.)|NCI|N|
C2981409|Stage IA includes: T1 or T2, N0, M0, Mitotic rate: Low. T1: Tumor 2 cm or less in greatest dimension. T2: Tumor more than 2 cm, but not more than 5 cm, in greatest dimension. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C2981410|Stage IB includes: T3, N0, M0, Mitotic rate: Low. T3: Tumor more than 5 cm, but not more than 10 cm, in greatest dimension. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C2981411|Stage II includes: (T1, N0, M0, Mitotic rate: High); (T2, N0, M0, Mitotic rate: High); (T4, N0, M0, Mitotic rate: Low). T1: Tumor 2 cm or less in greatest dimension. T2: Tumor more than 2 cm, but not more than 5 cm, in greatest dimension. T4: Tumor more than 10 cm in greatest dimension. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C2981412|Stage IIIA includes: T3, N0, M0, Mitotic rate: High. T3: Tumor more than 5 cm, but not more than 10 cm, in greatest dimension. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C2981413|Stage IIIB includes: T4, N0, M0, Mitotic rate: High. T4: Tumor more than 10 cm in greatest dimension. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C2981414|Stage IV includes: (Any T, N1, M0, Mitotic rate: Any rate); (Any T, Any N, M1, Mitotic rate: Any rate). N1: Regional lymph node metastasis. M0: No distant metastasis. M1: Distant metastasis. (AJCC 7th ed.)|NCI|N|
C2981415|Stage I includes: T1 or T2, N0, M0, Mitotic rate: Low. T1: Tumor 2 cm or less in greatest dimension. T2: Tumor more than 2 cm, but not more than 5 cm, in greatest dimension. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C2981416|Stage II includes: T3, N0, M0, Mitotic rate: Low. T3: Tumor more than 5 cm, but not more than 10 cm, in greatest dimension. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C2981417|Stage IIIA includes: (T1, N0, M0, Mitotic rate: High); (T4, N0, M0, Mitotic rate: Low). T1: Tumor 2 cm or less in greatest dimension. T4: Tumor more than 10 cm in greatest dimension. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C2981418|Stage IIIB includes: (T2, N0, M0, Mitotic rate: High); (T3, N0, M0, Mitotic rate: High); (T4, N0, M0, Mitotic rate: High). T2: Tumor more than 2 cm, but not more than 5 cm, in greatest dimension. T3: Tumor more than 5 cm, but not more than 10 cm, in greatest dimension. T4: Tumor more than 10 cm in greatest dimension. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C2981419|Stage IV includes: (Any T, N1, M0, Mitotic rate: Any rate); (Any T, Any N, M1, Mitotic rate: Any rate). N1: Regional lymph node metastasis. M1: Distant metastasis. (AJCC 7th ed.)|NCI|N|
C2981457|An indication or description that a drug accountability test has occurred.|NCI|N|
C2981476|A character or string that represents a finding of the event or intervention.|NCI|N|
C2981594|An indication or description that a vital signs test has occurred.|NCI|N|
C2981609|Stage 0 includes: Tis, N0, M0. Tis (applies only to stomach): Carcinoma in situ/dysplasia (tumor size less than 0.5 mm), confined to mucosa. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C2981610|Stage I includes: T1, N0, M0. T1: Stomach: tumor invades lamina propria or submucosa and is 1 cm or less in size; duodenum /jejunum/ileum: tumor invades lamina propria or submucosa and is 1 cm or less in size; ampulla: tumor 1 cm or less; colon or rectum: tumor invades lamina propria or submucosa and is 2 cm or less. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C2981611|Stage IIA includes: T2, N0, M0. T2: Stomach/ duodenum /jejunum/ileum: tumor invades muscularis propria or is more than 1 cm in size; ampulla: tumor is more than 1 cm in size; colon or rectum: tumor invades muscularis propria or is more than 2 cm in size with invasion of lamina propria or submucosa. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C2981612|Stage IIB includes: T3, N0, M0. T3: Stomach: tumor penetrates subserosa; jejunum/ileum: tumor invades through the muscularis propria into subserosal tissue without penetration of overlying serosa or invades into non-peritonealized tissues; ampulla/duodenum: tumor invades pancreas or retroperitoneum or into non-peritonealized tissues; colon or rectum: tumor invades through the muscularis propria into the subserosa, or into non-peritonealized pericolic or perirectal tissues. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C2981613|Stage IIIA includes: T4, N0, M0. T4: Stomach/duodenum/ampulla/jejunum/ileum: tumor invades visceral peritoneum (serosa) or invades other organs or adjacent structures; colon or rectum: tumor invades peritoneum or other organs. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C2981614|Stage IIIB includes: Any T, N1, M0. N1: Regional lymph node metastasis. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C2981615|Stage IV includes: Any T, Any N, M1. M1: Distant metastasis. (AJCC 7th ed.)|NCI|N|
C2981620|Stage IIIC includes: T4, N0, M0. T4: Tumors(s) with direct invasion of adjacent organs other than the gallbladder or with perforation of visceral peritoneum. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C2981623|Stage 0 includes: Tis, N0, M0. Tis: Carcinoma in situ (intraductal tumor). N0: No regional lymph node metastasis. M0: No distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2981624|Stage I includes: T1, N0, M0. T1: Solitary tumor without vascular invasion. N0: No regional lymph node metastasis. M0: No distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2981625|Stage II includes: T2, N0, M0. T2: Solitary tumor with vascular invasion or multiple tumors, with or without vascular invasion. N0: No regional lymph node metastasis. M0: No distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2981626|Stage III includes: T3, N0, M0. T3: Tumor perforating the visceral peritoneum or involving the local extra hepatic structures by direct invasion. N0: No regional lymph node metastasis. M0: No distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2981627|Stage IVA includes: (T4, N0, M0); (Any T, N1, M0). T4: Tumor with periductal invasion. N0: No regional lymph node metastasis. N1: Regional lymph node metastasis. M0: No distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2981628|Stage IVB includes: Any T, Any N, M1. M1: Distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2981630|Stage IIIA includes: T3, N0, M0. T3: Tumor perforates the serosa (visceral peritoneum) and/or directly invades the liver and/or one other adjacent organ or structure, such as the stomach, duodenum, colon, pancreas, omentum, or extrahepatic bile ducts. N0: No regional lymph node metastasis. M0: No distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2981631|Stage IIIB includes: T1-3, N1, M0. T1: Tumor invades lamina propria or muscular layer. T2: Tumor invades perimuscular connective tissue; no extension beyond serosa or into liver. T3: Tumor perforates the serosa (visceral peritoneum) and/or directly invades the liver and/or one other adjacent organ or structure, such as the stomach, duodenum, colon, pancreas, omentum, or extrahepatic bile ducts. N1: Metastases to nodes along the cystic duct, common bile duct, hepatic artery, and/or portal vein. M0: No distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2981632|Stage 0 includes: Tis, N0, M0. Tis: Carcinoma in situ. N0: No regional lymph node metastasis. M0: No distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2981633|Stage I includes: T1, N0, M0. T1: Tumor confined to the bile duct, with extension up to the muscle layer or fibrous tissue. N0: No regional lymph node metastasis. M0: No distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2981634|Stage II includes: T2a-b, N0, M0. T2a: Tumor invades beyond the wall of the bile duct to surrounding adipose tissue. T2b: Tumor invades adjacent hepatic parenchyma. N0: No regional lymph node metastasis. M0: No distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2981635|Stage IIIA includes: T3, N0, M0. T3: Tumor invades unilateral branches of the portal vein or hepatic artery. N0: No regional lymph node metastasis. M0: No distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2981636|Stage IIIB includes: T1-3, N1, M0. T1: Tumor confined to the bile duct, with extension up to the muscle layer or fibrous tissue. T2a: Tumor invades beyond the wall of the bile duct to surrounding adipose tissue. T2b: Tumor invades adjacent hepatic parenchyma. T3: Tumor invades unilateral branches of the portal vein or hepatic artery. N1: Regional lymph node metastasis (including nodes along the cystic duct, common bile duct, hepatic artery, and portal vein). M0: No distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2981637|Stage IVA includes: T4, N0-1, M0. T4: Tumor invades the main portal vein or its branches bilaterally; or the common hepatic artery; or the second-order biliary radicals bilaterally; or unilateral second-order biliary radicals with contralateral portal vein or hepatic artery involvement. N0: No regional lymph node metastasis. N1: Regional lymph node metastasis (including nodes along the cystic duct, common bile duct, hepatic artery, and portal vein). M0: No distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2981638|Stage IVB includes: (Any T, N2, M0); (Any T, Any N, M1). N2: MetastasIs to periaortic, pericaval, superior mesenteric artery, and/or celiac artery lymph nodes. M0: No distant metastasis. M1: Distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2981663|Stage 0 includes: Tis, N0, M0. Tis: Carcinoma in situ. N0: No regional lymph node metastasis. M0: No distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2981664|Stage IA includes: T1, N0, M0. T1: Tumor confined to the bile duct histologically. N0: No regional lymph node metastasis. M0: No distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2981665|Stage IB includes: T2, N0, M0. T2: Tumor invades beyond the wall of the bile duct. N0: No regional lymph node metastasis. M0: No distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2981666|Stage IIA includes: T3, N0, M0. T3: Tumor invades the gallbladder, pancreas, duodenum, or other adjacent organs without involvement of the celiac axis or the superior mesenteric artery. N0: No regional lymph node metastasis. M0: No distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2981667|Stage IIB includes: (T1, N1, M0); (T2, N1, M0); (T3, N1, M0). T1: Tumor confined to the bile duct histologically. T2: Tumor invades beyond the wall of the bile duct. T3: Tumor invades the gallbladder, pancreas, duodenum, or other adjacent organs without involvement of the celiac axis or the superior mesenteric artery. N1: Regional lymph node metastasis. M0: No distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2981668|Stage III includes: T4, Any N, M0. T4: Tumor involves the celiac axis or the superior mesenteric artery. M0: No distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2981669|Stage IV includes: Any T, Any N, M1. M1: Distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2981670|Stage IA includes: T1, N0, M0. T1: Tumor limited to ampulla of Vater or sphincter of Oddi. N0: No regional lymph node metastasis. M0: No distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2981671|Stage IB includes: T2, N0, M0. T2: Tumor invades the duodenal wall. N0: No regional lymph node metastasis. M0: No distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2981672|Stage IIA includes: T3, N0, M0. T3: Tumor invades the pancreas. N0: No regional lymph node metastasis. M0: No distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2981673|Stage IIB includes: (T1, N1, M0); (T2, N1, M0); (T3, N1, M0). T1: Tumor limited to ampulla of Vater or sphincter of Oddi. T2: Tumor invades the duodenal wall. T3: Tumor invades the pancreas. N1: Regional lymph node metastasis. M0: No distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2981674|Stage IA includes: T1, N0, M0. T1: Tumor limited to the pancreas, 2 cm or less in greatest dimension. N0: No regional lymph node metastasis. M0: No distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2981675|Stage IB includes: T2, N0, M0. T2: Tumor limited to the pancreas, more than 2 cm in greatest dimension. N0: No regional lymph node metastasis. M0: No distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2981676|Stage IIA includes: T3, N0, M0. T3: Tumor extends beyond the pancreas but without involvement of the celiac axis or the superior mesenteric artery. N0: No regional lymph node metastasis. M0: No distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2981677|Stage IIB includes: (T1, N1, M0); (T2, N1, M0); (T3, N1, M0). T1: Tumor limited to the pancreas, 2 cm or less in greatest dimension. T2: Tumor limited to the pancreas, more than 2 cm in greatest dimension. T3: Tumor extends beyond the pancreas but without involvement of the celiac axis or the superior mesenteric artery. N1: Regional lymph node metastasis. M0: No distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2981678|Stage IIIa includes: T1-3, N1, M0. T1: Tumor invades subepithelial connective tissue without lymph vascular invasion and is not poorly differentiated (i.e., grade 3-4) or tumor invades subepithelial connective tissue with lymph vascular invasion or is poorly differentiated. T2: Tumor invades corpus spongiosum or cavernosum. T3: Tumor invades urethra. cN1: Palpable mobile unilateral inguinal lymph node. pN1: Metastasis in a single inguinal lymph node. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C2981679|Stage IIIb includes: T1-3, N2, M0. T1: Tumor invades subepithelial connective tissue without lymph vascular invasion and is not poorly differentiated (i.e., grade 3-4) or tumor invades subepithelial connective tissue with lymph vascular invasion or is poorly differentiated. T2: Tumor invades corpus spongiosum or cavernosum. T3: Tumor invades urethra. cN2: Palpable mobile multiple or bilateral inguinal lymph nodes. pN2: Metastasis in multiple or bilateral superficial inguinal lymph nodes. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C2981680|Stage IIA includes: (T1a-c, N0, M0, PSA less than 20, Gleason 7); (T1a-c, N0, M0, PSA equal or more than 10 and less than 20, Gleason equal or less than 6); (T2a, N0, M0, PSA less than 20, Gleason equal or less than 7); (T2b, N0, M0, PSA less than 20, Gleason equal or less than 7); (T2b, N0, M0, PSA X, Gleason X). T1a: Tumor incidental histologic finding in 5% or less of tissue resected. T1b: Tumor incidental histologic finding in more than 5% of tissue resected. T1c: Tumor identified by needle biopsy (e.g., because of elevated PSA). T2a: Tumor involves one-half of one lobe or less. T2b: Tumor involves more than one-half of one lobe, but not both lobes. cN0: No regional lymph node metastasis. pN0: No positive regional nodes. M0: No distant metastasis. Gleason 7: Moderately differentiated (moderate anaplasia). Gleason Equal or Less than 6: Well differentiated (slight anaplasia). (AJCC 7th ed.)|NCI|N|
C2981681|Stage IIB includes: (T2c, N0, M0, Any PSA, Any Gleason); (T1-2, N0, M0, PSA equal or more than 20, Any Gleason); (T1-2, N0, M0, Any PSA, Gleason equal or more than 8). T2c: Tumor involves both lobes. T1a: Tumor incidental histologic finding in 5% or less of tissue resected. T1b: Tumor incidental histologic finding in more than 5% of tissue resected. T1c: Tumor identified by needle biopsy (e.g., because of elevated PSA). T2a: Tumor involves one-half of one lobe or less. T2b: Tumor involves more than one-half of one lobe, but not both lobes. cN0: No regional lymph node metastasis. pN0: No positive regional nodes. M0: No distant metastasis. Gleason equal or more than 8: Poorly differentiated/undifferentiated (marked anaplasia). (AJCC 7th ed.)|NCI|N|
C2981692|Stage 0 includes: Tis, N0, M0. Tis: Carcinoma in situ. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C2981693|Stage IA includes: T1, N0, M0. T1: Tumor 5 mm or less in greatest dimension. No invasion of the tarsal plate or eyelid margin. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C2981694|Stage IB includes: T2a, N0, M0. T2a: Tumor more than 5 mm, but not more than 10 mm in greatest dimension. Or, any tumor that invades the tarsal plate or eyelid margin. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C2981697|Stage IC includes: T2b, N0, M0. T2b: Tumor more than 10 mm, but not more than 20 mm in greatest dimension. Or, tumor involves full thickness of the eyelid. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C2981698|A finding of 10-99 acid-fast bacilli per 100 immersion fields.|NCI|N|
C2981699|Stage II includes: T3a, N0, M0. T3a: Tumor more than 20 mm in greatest dimension. Or, any tumor that invades adjacent ocular or orbital structures. Or, any T with perineural tumor invasion. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C2981700|A finding of 1-10 acid-fast bacilli per 1 immersion field.|NCI|N|
C2981701|Stage IIIA includes: T3b, N0, M0. T3b: Complete tumor resection requires enucleation, exenteration, or bone resection. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C2981702|A finding of greater than 10 acid-fast bacilli per 1 immersion field.|NCI|N|
C2981703|Stage IIIB includes: Any T, N1, M0. N1: Regional lymph node metastasis. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C2981704|Stage IIIC includes: T4, Any N, M0. T4: Tumor is not resectable due to extensive invasion of ocular, orbital, craniofacial structures, or brain. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C2981705|Stage IV includes: Any T, Any N, M1. M1: Distant metastasis. (AJCC 7th ed.)|NCI|N|
C2981706|Stage IIA includes: (T1b-d, N0, M0); (T2a, N0, M0). T1b: Iris: Tumor limited to the iris more than 3 clock hours in size. Ciliary body and choroid: Tumor size category 1 with ciliary body involvement. T1c: Iris: Tumor limited to the iris with secondary glaucoma. Ciliary body and choroid: Tumor size category 1 without ciliary body involvement but with extraocular extension less than or equal to 5 mm in diameter. T1d: Ciliary body and choroid: Tumor size category 1 with ciliary body involvement and extraocular extension less than or equal to 5 mm in diameter. T2a: Iris: Tumor confluent with or extending into the ciliary body, choroid, or both, with secondary glaucoma. Ciliary body and choroid: Tumor size category 2 without ciliary body involvement and extraocular extension. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C2981707|Stage IIB includes: (T2b, N0, M0); (T3a, N0, M0). T2b: Ciliary body and choroid: Tumor size category 2 with ciliary body involvement. T3a: Iris: Tumor confluent with or extending into the ciliary body, choroid, or both, with sclera extension and secondary glaucoma. Ciliary body and choroid: Tumor size category 3 without ciliary body involvement and extraocular extension. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C2981708|Stage IIIA includes: (T2c-d, N0, M0); (T3b-c, N0, M0); (T4a, N0, M0). T2c: Ciliary body and choroid: Tumor size category 2 without ciliary body involvement but with extraocular extension less than or equal to 5 mm in diameter. T2d: Ciliary body and choroid: Tumor size category 2 with ciliary body involvement and extraocular extension less than or equal to 5 mm in diameter. T3b: Ciliary body and choroid: Tumor size category 3 with ciliary body involvement. T3c: Ciliary body and choroid: Tumor size category 3 without ciliary body involvement but with extraocular extension less than or equal to 5 mm in diameter. T4a: Iris: Tumor with extrascleral extension less than or equal to 5 mm in diameter. Ciliary body and choroid: Tumor size category 4 without ciliary body involvement and extraocular extension. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C2981709|Stage IIIB includes: (T3d, N0, M0); (T4b-c, N0, M0). T3d: Ciliary body and choroid: Tumor size category 3 with ciliary body involvement and extraocular extension less than or equal to 5 mm in diameter. T4b: Iris: Tumor with extrascleral extension more than 5 mm in diameter. Ciliary body and choroid: Tumor size category 4 with ciliary body involvement. T4c: Ciliary body and choroid: Tumor size category 4 without ciliary body involvement but with extraocular extension less than or equal to 5 mm in diameter. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C2981710|Stage IIIC includes: T4d-e, N0, M0. T4d: Ciliary body and choroid: Tumor size category 4 with ciliary body involvement and extraocular extension less than or equal to 5 mm in diameter. T4e: Ciliary body and choroid: Any tumor size category with extraocular extension more than 5 mm in diameter. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C2981711|An electrocardiographic finding in which the cardiac rhythm is controlled by an electrical impulse from an artificial cardiac pacemaker. (CDISC)|NCI|N|
C2981712|A non-Hodgkin lymphoma arising from the conjunctiva, lacrimal gland, lacrimal drainage apparatus, eyelids, or other orbital tissues around the eye. The vast majority of cases are extranodal marginal zone lymphomas of mucosa-associated lymphoid tissue, however, other histologic types of lymphomas can originate from ocular adnexal tissues, including rare cases of NK/T-cell lymphomas of nasal type.|NCI|N|
C2981714|Stage IA includes: T1, N0, M0, B0-1. T1: Limited patches, papules, and/or plaques covering less than 10% of the skin surface. May further stratify into T1a (patch only) vs. T1b (plaque +/- patch). N0: No clinically abnormal peripheral lymph nodes; biopsy not required. M0: No visceral organ involvement. B0: Absence of significant blood involvement: 5% or less of peripheral blood lymphocytes are atypical (Sezary cells). B1: Low blood tumor burden: more than 5% of peripheral blood lymphocytes are atypical (Sezary cells) but does not meet the criteria of B2. (AJCC 7th ed.)|NCI|N|
C2981715|Stage IB includes: T2, N0, M0, B0-1. T2: Patches, papules, or plaques covering 10% or more of the skin surface. May further stratify into T2a (patch only) vs. T2b (plaque +/- patch). N0: No clinically abnormal peripheral lymph nodes; biopsy not required. M0: No visceral organ involvement. B0: Absence of significant blood involvement: 5% or less of peripheral blood lymphocytes are atypical (Sezary cells). B1: Low blood tumor burden: more than 5% of peripheral blood lymphocytes are atypical (Sezary cells) but does not meet the criteria of B2. (AJCC 7th ed.)|NCI|N|
C2981716|Stage IIA includes: T1-2, N1-2, M0, B0-1. T1: Limited patches, papules, and/or plaques covering less than 10% of the skin surface. May further stratify into T1a (patch only) vs. T1b (plaque +/- patch). T2: Patches, papules, or plaques covering 10% or more of the skin surface. May further stratify into T2a (patch only) vs. T2b (plaque +/- patch). N1: Clinically abnormal peripheral lymph nodes; histopathology Dutch grade 1 or NCI LN0-2. N2: Clinically abnormal peripheral lymph nodes; histopathology Dutch grade 2 or NCI LN3. M0: No visceral organ involvement. B0: Absence of significant blood involvement: 5% or less of peripheral blood lymphocytes are atypical (Sezary cells). B1: Low blood tumor burden: more than 5% of peripheral blood lymphocytes are atypical (Sezary cells) but does not meet the criteria of B2. (AJCC 7th ed.)|NCI|N|
C2981717|Stage IIB includes: T3, N0-2, M0, B0-1. T3: One or more tumors (equal or greater than 1 cm diameter). N0: No clinically abnormal peripheral lymph nodes; biopsy not required. N1: Clinically abnormal peripheral lymph nodes; histopathology Dutch grade 1 or NCI LN0-2. N2: Clinically abnormal peripheral lymph nodes; histopathology Dutch grade 2 or NCI LN3. M0: No visceral organ involvement. B0: Absence of significant blood involvement: 5% or less of peripheral blood lymphocytes are atypical (Sezary cells). B1: Low blood tumor burden: more than 5% of peripheral blood lymphocytes are atypical (Sezary cells) but does not meet the criteria of B2. (AJCC 7th ed.)|NCI|N|
C2981718|Stage IIIA includes: T4, N0-2, M0, B0. T4: Confluence of erythema covering 80% or more of body surface area. N0: No clinically abnormal peripheral lymph nodes; biopsy not required. N1: Clinically abnormal peripheral lymph nodes; histopathology Dutch grade 1 or NCI LN0-2. N2: Clinically abnormal peripheral lymph nodes; histopathology Dutch grade 2 or NCI LN3. M0: No visceral organ involvement. B0: Absence of significant blood involvement: 5% or less of peripheral blood lymphocytes are atypical (Sezary cells). (AJCC 7th ed.)|NCI|N|
C2981719|Stage IIIB includes: T4, N0-2, M0, B1. T4: Confluence of erythema covering 80% or more of body surface area. N0: No clinically abnormal peripheral lymph nodes; biopsy not required. N1: Clinically abnormal peripheral lymph nodes; histopathology Dutch grade 1 or NCI LN0-2. N2: Clinically abnormal peripheral lymph nodes; histopathology Dutch grade 2 or NCI LN3. M0: No visceral organ involvement. B1: Low blood tumor burden: more than 5% of peripheral blood lymphocytes are atypical (Sezary cells) but does not meet the criteria of B2. (AJCC 7th ed.)|NCI|N|
C2981720|Stage IVA includes: IVA1 (T1-4, N0-2, M0, B2); IVA2 (T1-4, N3, M0, B0-2). T1: Limited patches, papules, and/or plaques covering less than 10% of the skin surface. May further stratify into T1a (patch only) vs. T1b (plaque +/- patch). T2: Patches, papules, or plaques covering 10% or more of the skin surface. May further stratify into T2a (patch only) vs. T2b (plaque +/- patch). T3: One or more tumors (equal or greater than 1 cm diameter). T4: Confluence of erythema covering 80% or more of body surface area. N0: No clinically abnormal peripheral lymph nodes; biopsy not required. N1: Clinically abnormal peripheral lymph nodes; histopathology Dutch grade 1 or NCI LN0-2. N2: Clinically abnormal peripheral lymph nodes; histopathology Dutch grade 2 or NCI LN3. N3: Clinically abnormal peripheral lymph nodes; histopathology Dutch grades 3-4 or NCI LN4; clone positive or negative. M0: No visceral organ involvement. B0: Absence of significant blood involvement: 5% or less of peripheral blood lymphocytes are atypical (Sezary cells). B1: Low blood tumor burden: more than 5% of peripheral blood lymphocytes are atypical (Sezary cells) but does not meet the criteria of B2. B2: High blood tumor burden: 1000/microL Sezary cells or more with positive clone. (AJCC 7th ed.)|NCI|N|
C2981721|Stage IVB includes: T1-4, N0-3, M1, B0-2. T1: Limited patches, papules, and/or plaques covering less than 10% of the skin surface. May further stratify into T1a (patch only) vs. T1b (plaque +/- patch). T2: Patches, papules, or plaques covering 10% or more of the skin surface. May further stratify into T2a (patch only) vs. T2b (plaque +/- patch). T3: One or more tumors (equal or greater than 1 cm diameter). T4: Confluence of erythema covering 80% or more of body surface area. N0: No clinically abnormal peripheral lymph nodes; biopsy not required. N1: Clinically abnormal peripheral lymph nodes; histopathology Dutch grade 1 or NCI LN0-2. N2: Clinically abnormal peripheral lymph nodes; histopathology Dutch grade 2 or NCI LN3. N3: Clinically abnormal peripheral lymph nodes; histopathology Dutch grades 3-4 or NCI LN4; clone positive or negative. M1: Visceral involvement (must have pathology confirmation and organ involved should be specified). B0: Absence of significant blood involvement: 5% or less of peripheral blood lymphocytes are atypical (Sezary cells). B1: Low blood tumor burden: more than 5% of peripheral blood lymphocytes are atypical (Sezary cells) but does not meet the criteria of B2. B2: High blood tumor burden: 1000/microL Sezary cells or more with positive clone. (AJCC 7th ed.)|NCI|N|
C2981752|A finding about one or more characteristics of primary cutaneous lymphoma, following the rules of the TNM v7 classification system. Mycosis fungoides and Sezary syndrome have a formal staging system proposed by the International Society for Cutaneous Lymphomas (ISCL) and EORTC. The other cutaneous non-Hodgkin lymphomas are staged using the same system for lymphomas presenting in other anatomic locations. (from AJCC 7th Ed.)|NCI|N|
C2981753|A finding about one or more characteristics of mycosis fungoides and Sezary syndrome, following the rules of the TNM AJCC v7 classification system.|NCI|N|
C2981754|A finding about one or more characteristics of mycosis fungoides and Sezary syndrome, following the rules of the TNM AJCC v7 classification system as they pertain to staging of the primary tumor (skin).|NCI|N|
C2981755|Primary tumor cannot be assessed. (from AJCC 7th Ed.)|NCI|N|
C2981756|Limited patches, papules, and/or plaques covering less than 10% of the skin surface. May further stratify into T1a (patch only) vs. T1b (plaque +/- patch). Note: for skin, patch indicates any size skin lesion without significant elevation or induration. Presence/absence of hypo- or hyperpigmentation, scale, crusting, and/or poikiloderma should be noted. Plaque indicates any size skin lesion that is elevated or indurated. Presence or absence of scale, crusting, and/or poikiloderma should be noted. Histologic features such as folliculotropism or large-cell transformation (more than 25% large cells), CD30+ or CD30-, and clinical features such as ulceration are important to document. (from AJCC 7th Ed.)|NCI|N|
C2981757|Patches, papules, or plaques covering 10% or more of the skin surface. May further stratify into T2a (patch only) vs. T2b (plaque +/- patch). (from AJCC 7th Ed.)|NCI|N|
C2981758|One or more tumors (equal or greater than 1 cm diameter). Note: for skin, tumor indicates at least 1 cm diameter solid or nodular lesion with evidence of depth and/or vertical growth. Note total number of lesions, total volume of lesions, largest size lesion, and region of body involved. Also note if histologic evidence of large-cell transformation has occurred. Phenotyping for CD30 is encouraged. (from AJCC 7th Ed.)|NCI|N|
C2981759|Confluence of erythema covering 80% or more of body surface area. (from AJCC 7th Ed.)|NCI|N|
C2981760|A finding about one or more characteristics of mycosis fungoides and Sezary syndrome, following the rules of the TNM AJCC v7 classification system as they pertain to staging of peripheral lymph nodes.|NCI|N|
C2981761|No clinically abnormal peripheral lymph nodes; biopsy not required. Note: for node, abnormal peripheral lymph node(s) indicates any palpable peripheral node that on physical examination is firm, irregular, clustered, fixed or 1.5 cm or larger in diameter. Node groups examined on physical examination include cervical, supraclavicular, epitrochlear, axillary, and inguinal. Central nodes, which are not generally amenable to pathologic assessment, are not currently considered in the nodal classification unless used to establish N3 histopathology. (from AJCC 7th Ed.)|NCI|N|
C2981762|Clinically abnormal peripheral lymph nodes; histopathology Dutch grade 1 or NCI LN0-2. Note: Dutch grade 1: dermatopathic lymphadenopathy. NCI LN0: no atypical lymphocytes. NCI LN1: occasional and isolated atypical lymphocytes (not arranged in clusters). NCI LN2: many atypical lymphocytes or in 3-6 cell clusters. (from AJCC 7th Ed.)|NCI|N|
C2981763|Clone negative. Note: A T-cell clone is defined by PCR or Southern blot analysis of the T-cell receptor gene. (from AJCC 7th Ed.)|NCI|N|
C2981764|Clone positive. Note: A T-cell clone is defined by PCR or Southern blot analysis of the T-cell receptor gene. (from AJCC 7th Ed.)|NCI|N|
C2981765|Clinically abnormal peripheral lymph nodes; histopathology Dutch grade 2 or NCI LN3. Note: Dutch grade 2: dermatopathic lymphadenopathy; early involvement by mycosis fungoides (presence of cerebriform nuclei greater than 7.5 micrometers). NCI LN3: aggregates of atypical lymphocytes; nodal architecture preserved. (from AJCC 7th Ed.)|NCI|N|
C2981766|Clone negative. Note: A T-cell clone is defined by PCR or Southern blot analysis of the T-cell receptor gene. (from AJCC 7th Ed.)|NCI|N|
C2981767|Clone positive. Note: A T-cell clone is defined by PCR or Southern blot analysis of the T-cell receptor gene. (from AJCC 7th Ed.)|NCI|N|
C2981768|Clinically abnormal peripheral lymph nodes; histopathology Dutch grades 3-4 or NCI LN4; clone positive or negative. Note: Dutch grade 3: partial effacement of lymph node architecture; many atypical cerebriform mononuclear cells (CMCs). Dutch grade 4: complete effacement of lymph node. NCI LN4: partial/complete effacement of nodal architecture by atypical lymphocytes or frankly neoplastic cells. (from AJCC 7th Ed.)|NCI|N|
C2981769|Clinically abnormal peripheral lymph nodes; no histologic confirmation. (from AJCC 7th Ed.)|NCI|N|
C2981770|A finding about one or more characteristics of mycosis fungoides and Sezary syndrome, following the rules of the TNM AJCC v7 classification system as they pertain to distant metastases (visceral). (from AJCC 7th Ed.)|NCI|N|
C2981771|No visceral organ involvement. (from AJCC 7th Ed.)|NCI|N|
C2981772|Visceral involvement (must have pathology confirmation and organ involved should be specified). Note: for viscera, spleen and liver may be diagnosed by imaging criteria. (from AJCC 7th Ed.)|NCI|N|
C2981773|A finding about one or more characteristics of mycosis fungoides and Sezary syndrome, following the rules of the TNM AJCC v7 classification system as they pertain to peripheral blood involvement. (from AJCC 7th Ed.)|NCI|N|
C2981774|Absence of significant blood involvement: 5% or less of peripheral blood lymphocytes are atypical (Sezary cells). Note: for blood, Sezary cells are defined as lymphocytes with hyperconvoluted cerebriform nuclei. If Sezary cells are not able to be used to determine tumor burden for B2, then one of the following modified ISCL criteria along with a positive clonal rearrangement of the TCR may be used instead: (1) expanded CD4+ or CD3+ cells with CD4/CD8 ratio of 10 or more, (2) expanded CD4+ cells with abnormal immunophenotype including loss of CD7 or CD26. (from AJCC 7th Ed.)|NCI|N|
C2981775|Clone negative. Note: A T-cell clone is defined by PCR or Southern blot analysis of the T-cell receptor gene. (from AJCC 7th Ed.)|NCI|N|
C2981776|Clone positive. Note: A T-cell clone is defined by PCR or Southern blot analysis of the T-cell receptor gene. (from AJCC 7th Ed.)|NCI|N|
C2981777|Low blood tumor burden: more than 5% of peripheral blood lymphocytes are atypical (Sezary) cells but does not meet the criteria of B2. (from AJCC 7th Ed.)|NCI|N|
C2981778|Clone negative. Note: A T-cell clone is defined by PCR or Southern blot analysis of the T-cell receptor gene. (from AJCC 7th Ed.)|NCI|N|
C2981779|Clone positive. Note: A T-cell clone is defined by PCR or Southern blot analysis of the T-cell receptor gene. (from AJCC 7th Ed.)|NCI|N|
C2981780|High blood tumor burden: 1000/microL Sezary cells or more with positive clone. Note 1: for blood, Sezary cells are defined as lymphocytes with hyperconvoluted cerebriform nuclei. If Sezary cells are not able to be used to determine tumor burden for B2, then one of the following modified ISCL criteria along with a positive clonal rearrangement of the TCR may be used instead: (1) expanded CD4+ or CD3+ cells with CD4/CD8 ratio of 10 or more, (2) expanded CD4+ cells with abnormal immunophenotype including loss of CD7 or CD26. Note 2: A T-cell clone is defined by PCR or Southern blot analysis of the T-cell receptor gene. (from AJCC 7th Ed.)|NCI|N|
C2981781|A finding about one or more characteristics of breast cancer, following the rules of the TNM AJCC v7 classification system.|NCI|N|
C2981782|A pathologic finding about one or more characteristics of breast cancer, following the rules of the TNM AJCC v7 classification system. TNM pathologic findings are based on clinical findings supplemented by histopathologic examination of one or more tissue specimens acquired during surgery.|NCI|N|
C2981866|A pathologic finding about one or more characteristics of breast cancer, following the rules of the TNM AJCC v7 classification system as they pertain to staging of the primary tumor. The TNM pathologic and clinical primary tumor classifications of breast cancer are the same, regardless of whether they are based on pathologic and/or clinical criteria.|NCI|N|
C2981867|A pathologic finding about one or more characteristics of breast cancer, following the rules of the TNM AJCC v7 classification system as they pertain to staging of regional lymph nodes. The classification is based on axillary lymph node dissection with or without sentinel lymph node biopsy. (partially adapted from AJCC 7th Ed.)|NCI|N|
C2981868|Breast cancer without histological evidence of regional lymph node involvement. Lymph nodes containing only isolated tumor cell clusters are excluded from the total positive node count for purposes of regional lymph node classification, but should be included in the total number of nodes evaluated. (from AJCC 7th Ed.)|NCI|N|
C2981869|Breast cancer without histological evidence of regional lymph node involvement, and with negative immunohistochemistry. (from AJCC 7th Ed.)|NCI|N|
C2981870|Breast cancer with malignant cells in regional lymph node(s) no greater than 0.2 mm (detected by H&E or immunohistochemistry including isolated tumor cell clusters). (from AJCC 7th Ed.)|NCI|N|
C2981871|Breast cancer with micrometastases; or metastases in 1 to 3 axillary lymph nodes; and/or metastases in internal mammary nodes, with the metastases detected by sentinel lymph node biopsy but not clinically detected. ""Not clinically detected"" is defined by imaging studies (excluding lymphoscintigraphy) or by clinical examination. (from AJCC 7th Ed.)|NCI|N|
C2981872|Breast cancer with micrometastases (greater than 0.2 mm and/or more than 200 cells, but none greater than 2.0 mm) (from AJCC 7th Ed.)|NCI|N|
C2981873|Breast cancer with metastases in internal mammary lymph nodes with micrometastases or macrometastases detected by sentinel lymph node biopsy but not clinically detected. ""Not clinically detected"" is defined by imaging studies (excluding lymphoscintigraphy) or by clinical examination. (from AJCC 7th Ed.)|NCI|N|
C2981874|Breast cancer with metastases in 1 to 3 axillary lymph nodes and in internal mammary lymph nodes with micrometastases or macrometastases detected by sentinel lymph node biopsy but not clinically detected. ""Not clinically detected"" is defined by imaging studies (excluding lymphoscintigraphy) or by clinical examination. (from AJCC 7th Ed.)|NCI|N|
C2981876|Breast cancer with metastases in 4 to 9 axillary lymph nodes, or metastases in clinically detected internal mammary lymph nodes in the absence of axillary lymph node metastases. ""Clinically detected"" is defined as detected by imaging studies (excluding lymphoscintigraphy) or by clinical examination and having characteristics highly suspicious for malignancy or a presumed pathologic macrometastasis based on fine needle aspiration biopsy with cytologic examination. (from AJCC 7th Ed.)|NCI|N|
C2981877|Breast cancer with metastases in clinically detected internal mammary lymph nodes in the absence of axillary lymph node metastases. ""Clinically detected"" is defined as detected by imaging studies (excluding lymphoscintigraphy) or by clinical examination and having characteristics highly suspicious for malignancy or a presumed pathologic macrometastasis based on fine needle aspiration biopsy with cytologic examination. (from AJCC 7th Ed.)|NCI|N|
C2981878|Breast cancer with metastases in 10 or more axillary lymph nodes; or in infraclavicular (level III axillary) lymph nodes; or in clinically detected ipsilateral internal mammary lymph nodes in the presence of 1 or more positive level I, II axillary lymph nodes; or in more than 3 axillary lymph nodes and in internal mammary lymph nodes with micrometastases or macrometastases detected by sentinel lymph node biopsy but not clinically detected; or in ipsilateral supraclavicular lymph nodes. (from AJCC 7th Ed.)|NCI|N|
C2981879|Breast cancer with metastases in clinically detected ipsilateral internal mammary lymph nodes in the presence of 1 or more positive axillary lymph nodes; or in more than 3 axillary lymph nodes and in internal mammary lymph nodes with micrometastases or macrometastases detected by sentinel lymph node biopsy but not clinically detected. (from AJCC 7th Ed.)|NCI|N|
C2981880|A pathologic finding about one or more characteristics of breast cancer, following the rules of the TNM AJCC v7 classification system as they pertain to distant metastases. TNM pathologic distant metastasis findings are based on clinical findings supplemented by histopathologic examination of one or more tissue specimens acquired during surgery.|NCI|N|
C2981881|A clinical finding about one or more characteristics of breast cancer, following the rules of the TNM AJCC v7 classification system. TNM clinical findings are based on information obtained prior to the first definitive treatment through physical examination, diagnostic imaging, endoscopy, biopsy or laboratory testing.|NCI|N|
C2981882|A clinical finding about one or more characteristics of breast cancer, following the rules of the TNM AJCC v7 classification system as they pertain to staging of the primary tumor. The TNM clinical and pathologic primary tumor classifications of breast cancer are the same, regardless of whether they are based on clinical and/or pathologic criteria.|NCI|N|
C2981883|A clinical finding about one or more characteristics of breast cancer, following the rules of the TNM AJCC v7 classification system as they pertain to staging of regional lymph nodes.|NCI|N|
C2981885|Breast cancer with metastases in ipsilateral level I, II axillary lymph nodes that are clinically fixed or matted; or in clinically detected ipsilateral internal mammary nodes in the absence of clinically evident axillary lymph node metastases. ""Clinically detected"" is defined as detected by imaging studies (excluding lymphoscintigraphy) or by clinical examination and having characteristics highly suspicious for malignancy or a presumed pathologic macrometastasis based on fine needle aspiration biopsy with cytologic examination. (from AJCC 7th Ed.)|NCI|N|
C2981886|Breast cancer with metastases only in clinically detected ipsilateral internal mammary nodes and in the absence of clinically evident level I, II axillary lymph node metastases. ""Clinically detected"" is defined as detected by imaging studies (excluding lymphoscintigraphy) or by clinical examination and having characteristics highly suspicious for malignancy or a presumed pathologic macrometastasis based on fine needle aspiration biopsy with cytologic examination. (from AJCC 7th Ed.)|NCI|N|
C2981887|Breast cancer with metastases in ipsilateral infraclavicular (level III) axillary lymph node(s) with or without level I, II axillary lymph node involvement; or in clinically detected ipsilateral internal mammary lymph node(s) with clinically evident level I, II axillary lymph node metastases; or metastases in ipsilateral supraclavicular lymph node(s) with or without axillary or internal mammary lymph node involvement. (from AJCC 7th Ed.)|NCI|N|
C2981888|A clinical finding about one or more characteristics of breast cancer, following the rules of the TNM AJCC v7 classification system as they pertain to distant metastases.|NCI|N|
C2981889|Breast cancer in which there is no clinical or radiographic evidence of distant metastases, but deposits of molecularly or microscopically detected tumor cells in circulating blood, bone marrow, or other nonregional nodal tissue that are no larger than 0.2 mm in a patient without symptoms or signs of metastases. (from AJCC 7th Ed.)|NCI|N|
C2981890|Breast cancer in which there is no clinical or radiographic evidence of distant metastases. (from AJCC 7th Ed.)|NCI|N|
C2981891|Breast cancer with distant detectable metastases as determined by classic clinical and radiographic means and/or histologically proven larger than 0.2 mm. (from AJCC 7th Ed.)|NCI|N|
C2981892|A finding about one or more characteristics of cutaneous melanoma, following the rules of the TNM AJCC v7 classification system. The TNM clinical and pathologic regional lymph nodes tumor classifications of cutaneous melanoma are not the same. (from AJCC 7th Ed.)|NCI|N|
C2981893|A pathologic finding about one or more characteristics of cutaneous melanoma, following the rules of the TNM AJCC v7 classification system. TNM pathologic findings are based on histopathologic examination of one or more tissue specimens acquired during surgery. The TNM pathologic and clinical regional lymph nodes tumor classifications of cutaneous melanoma are not the same. (from AJCC 7th Ed.)|NCI|N|
C2981894|A pathologic finding about one or more characteristics of cutaneous melanoma, following the rules of the TNM AJCC v7 classification system as they pertain to staging of the primary tumor. The TNM pathologic and clinical primary tumor classifications of cutaneous melanoma are the same. (from AJCC 7th Ed.)|NCI|N|
C2981895|Cutaneous melanoma in which the primary tumor cannot be assessed (e.g., curettaged or severely regressed melanoma). (from AJCC 7th Ed.)|NCI|N|
C2981896|Cutaneous melanoma with a tumor measuring 1.0 mm or less in thickness. (from AJCC 7th Ed.)|NCI|N|
C2981897|Cutaneous melanoma with a tumor measuring 1.0 mm or less in thickness, without ulceration and with mitosis less than 1/mm2. (from AJCC 7th Ed.)|NCI|N|
C2981898|Cutaneous melanoma with a tumor measuring 1.0 mm or less in thickness, with ulceration or mitoses equal to or more than 1/mm2. (from AJCC 7th Ed.)|NCI|N|
C2981899|A pathologic finding about one or more characteristics of cutaneous melanoma, following the rules of the TNM classification system as they pertain to staging of regional lymph nodes. The TNM clinical and pathologic regional lymph nodes tumor classifications of cutaneous melanoma are not the same. TNM pathologic findings are based on the pathologic examination of the regional lymph nodes after sentinel or complete lymphadenectomy. (from AJCC 7th Ed.)|NCI|N|
C2981900|Cutaneous melanoma in which the regional lymph nodes cannot be assessed (e.g., previously removed for another reason). (from AJCC 7th Ed.)|NCI|N|
C2981901|Cutaneous melanoma with metastasis in one regional lymph node. (from AJCC 7th Ed.)|NCI|N|
C2981902|Cutaneous melanoma with micrometastasis in one regional lymph node. Micrometastases are diagnosed after sentinel lymph node biopsy and completion of lymphadenectomy (if performed). (from AJCC 7th Ed.)|NCI|N|
C2981903|Cutaneous melanoma with macrometastasis in one regional lymph node. Macrometastases are defined as clinically detectable nodal metastases confirmed by therapeutic lymphadenectomy or when nodal metastasis exhibits gross extracapsular extension. (from AJCC 7th Ed.)|NCI|N|
C2981904|Cutaneous melanoma with metastases in 2-3 regional lymph nodes or in transit met(s)/satellite(s) without metastatic nodes. (from AJCC 7th Ed.)|NCI|N|
C2981905|Cutaneous melanoma with micrometastases in 2-3 regional lymph nodes. Micrometastases are diagnosed after sentinel lymph node biopsy and completion of lymphadenectomy (if performed). (from AJCC 7th Ed.)|NCI|N|
C2981906|Cutaneous melanoma with macrometastases in 2-3 regional lymph nodes. Macrometastases are defined as clinically detectable nodal metastases confirmed by therapeutic lymphadenectomy or when nodal metastasis exhibits gross extracapsular extension. (from AJCC 7th Ed.)|NCI|N|
C2981907|Cutaneous melanoma with intralymphatic metastases (in transit or satellite metastases) without metastatic nodes. (from AJCC 7th Ed.)|NCI|N|
C2981908|A pathologic finding about one or more characteristics of cutaneous melanoma, following the rules of the TNM AJCC v7 classification system as they pertain to distant metastases. There is no pathologic M0 for cutaneous melanoma. (from AJCC 7th Ed.)|NCI|N|
C2981909|Cutaneous melanoma with detectable evidence of distant metastases. (from AJCC 7th Ed.)|NCI|N|
C2981910|Cutaneous melanoma with metastases to skin, subcutaneous tissues, or distant lymph nodes associated with normal serum lactate dehydrogenase (LDH). (from AJCC 7th Ed.)|NCI|N|
C2981911|Cutaneous melanoma with metastases to lung associated with normal serum lactate dehydrogenase (LDH). (from AJCC 7th Ed.)|NCI|N|
C2981912|A clinical finding about one or more characteristics of cutaneous melanoma, following the rules of the TNM AJCC v7 classification system. TNM clinical findings are based on clinical/radiographic examinations. The TNM clinical and pathologic primary tumor classifications of cutaneous melanoma are the same. The TNM clinical and pathologic regional lymph nodes tumor classifications of cutaneous melanoma are not the same. (from AJCC 7th Ed.)|NCI|N|
C2981913|A clinical finding about one or more characteristics of cutaneous melanoma, following the rules of the TNM classification system as they pertain to staging of regional lymph nodes. The TNM clinical and pathologic regional lymph nodes classifications of cutaneous melanoma are not the same. TNM clinical regional lymph nodes findings are based on clinical/radiographic exam of the regional lymph nodes. (from AJCC 7th Ed.)|NCI|N|
C2981914|Cutaneous melanoma in which the regional lymph nodes cannot be assessed (e.g., previously removed for another reason). (from AJCC 7th Ed.)|NCI|N|
C2981915|Cutaneous melanoma in which no regional metastases are detected. (from AJCC 7th Ed.)|NCI|N|
C2981916|Cutaneous melanoma with macrometastasis in one regional lymph node. Macrometastases are defined as clinically detectable nodal metastases confirmed by therapeutic lymphadenectomy or when nodal metastasis exhibits gross extracapsular extension. (from AJCC 7th Ed.)|NCI|N|
C2981917|Cutaneous melanoma with intralymphatic metastases (in transit or satellite metastases) without metastatic nodes. (from AJCC 7th Ed.)|NCI|N|
C2981918|Cutaneous melanoma with 1 or more metastatic nodes with in transit met(s)/satellite(s). (from AJCC 7th Ed.)|NCI|N|
C2981919|A clinical finding about one or more characteristics of cutaneous melanoma, following the rules of the TNM AJCC v7 classification system as they pertain to distant metastases. The clinical distant metastasis TNM findings for cutaneous melanoma include M0, M1a, M1b, and M1c. (from AJCC 7th Ed.)|NCI|N|
C2981920|Cutaneous melanoma with no detectable evidence of distant metastases. (from AJCC 7th Ed.)|NCI|N|
C2981921|Cutaneous melanoma with detectable evidence of distant metastases. (from AJCC 7th Ed.)|NCI|N|
C2981922|Cutaneous melanoma with metastases to skin, subcutaneous tissues, or distant lymph nodes associated with normal serum lactate dehydrogenase (LDH). (from AJCC 7th Ed.)|NCI|N|
C2981923|Cutaneous melanoma with metastases to lung associated with normal serum lactate dehydrogenase (LDH). (from AJCC 7th Ed.)|NCI|N|
C2981924|Cutaneous melanoma with metastases to all other visceral sites associated with normal serum lactate dehydrogenase (LDH) or distant metastases to any site associated with an elevated serum LDH. (from AJCC 7th Ed.)|NCI|N|
C2981925|Stage I includes: IA: (T1a, N0, M0); IB: (T1b, N0, M0); (T2a, N0, M0). T1a: Cutaneous melanoma with a tumor measuring 1.0 mm or less in thickness, without ulceration and mitosis less than 1/mm2. T1b: Cutaneous melanoma with a tumor measuring 1.0 mm or less in thickness, with ulceration or mitoses equal to or more than 1/mm2. T2a: Cutaneous melanoma with a tumor measuring 1.01-2.0 mm in thickness, without ulceration. N0: No regional lymph node metastases. M0: No detectable evidence of distant metastases. (from AJCC 7th Ed.)|NCI|N|
C2981926|Stage III includes: Any T, N1-3, M0. Stage III is divided into three pathologic subgroups: IIIA, IIIB, and IIIC. There are no clinical subgroups for stage III. N1: Cutaneous melanoma with metastasis in one regional lymph node. N2: Cutaneous melanoma with metastases in 2-3 regional lymph nodes or in transit met(s)/satellite(s) without metastatic nodes. N3: Cutaneous melanoma with 4 or more metastatic nodes, or matted nodes, or in transit met(s)/satellite(s) with metastatic node(s). M0: No detectable evidence of distant metastases. (from AJCC 7th Ed.)|NCI|N|
C2981927|A finding about one or more characteristics of musculoskeletal system cancer, following the rules of the TNM AJCC v7 classification system. This classification is used for all primary malignant tumors of bone (except primary malignant lymphoma and multiple myeloma) and soft tissue sarcoma. (from AJCC 7th Ed.)|NCI|N|
C2981928|A finding about one or more characteristics of bone cancer, following the rules of the TNM AJCC v7 classification system. This classification is used for all primary malignant tumors of bone except primary malignant lymphoma and multiple myeloma. (from AJCC 7th Ed.)|NCI|N|
C2981929|A pathologic finding about one or more characteristics of bone cancer, following the rules of the TNM AJCC v7 classification system. The pathologic diagnosis is based on the microscopic examination of tissue, correlated with imaging studies. (from AJCC 7th Ed.)|NCI|N|
C2981930|A pathologic finding about one or more characteristics of bone cancer, following the rules of the TNM AJCC v7 classification system as they pertain to staging of the primary tumor.|NCI|N|
C2981931|Bone cancer in which the primary tumor cannot be assessed. (from AJCC 7th Ed.)|NCI|N|
C2981932|Bone cancer with no evidence of primary tumor. (from AJCC 7th Ed.)|NCI|N|
C2981933|Bone cancer with tumor measuring 8 cm or less in greatest dimension. (from AJCC 7th Ed.)|NCI|N|
C2981934|Bone cancer with tumor measuring more than 8 cm in greatest dimension. (from AJCC 7th Ed.)|NCI|N|
C2981935|Bone cancer with discontinuous tumors in the primary bone site. (from AJCC 7th Ed.)|NCI|N|
C2981936|A pathologic finding about one or more characteristics of bone cancer, following the rules of the TNM AJCC v7 classification system as they pertain to staging of regional lymph nodes.|NCI|N|
C2981937|Bone cancer in which regional lymph nodes cannot be assessed. Note: Because of the rarity of lymph node involvement in bone sarcomas, the designation NX may not be appropriate and cases should be considered N0 unless clinical node involvement is clearly evident. (from AJCC 7th Ed.)|NCI|N|
C2981938|Bone cancer without regional lymph node metastasis. (from AJCC 7th Ed.)|NCI|N|
C2981939|Bone cancer with regional lymph node metastasis. (from AJCC 7th Ed.)|NCI|N|
C2981940|A pathologic finding about one or more characteristics of bone cancer, following the rules of the TNM AJCC v7 classification system as they pertain to distant metastases. There is no pathologic M0 for bone cancer.|NCI|N|
C2981941|Bone cancer with distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2981942|Bone cancer with metastasis to lung. (from AJCC 7th Ed.)|NCI|N|
C2981943|Bone cancer with metastasis to other distant sites. (from AJCC 7th Ed.)|NCI|N|
C2981944|A clinical finding about one or more characteristics of bone cancer, following the rules of the TNM AJCC v7 classification system. The clinical staging includes all relevant data prior to primary definitive therapy, including physical examination, imaging, and biopsy. (from AJCC 7th Ed.)|NCI|N|
C2981945|A clinical finding about one or more characteristics of bone cancer, following the rules of the TNM AJCC v7 classification system as they pertain to distant metastases.|NCI|N|
C2981946|Bone cancer without evidence of distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2981947|Bone cancer with distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2981948|Bone cancer with metastasis to lung. (from AJCC 7th Ed.)|NCI|N|
C2981949|Bone cancer with metastasis to other distant sites. (from AJCC 7th Ed.)|NCI|N|
C2981950|A finding about one or more characteristics of soft tissue sarcoma, following the rules of the TNM AJCC v7 classification system. Kaposi sarcoma, fibromatosis (desmoid tumor), and sarcoma arising from the dura mater, brain, parenchymatous organs, or hollow viscera are not included in this classification. (from AJCC 7th Ed.)|NCI|N|
C2981951|A pathologic finding about one or more characteristics of soft tissue sarcoma, following the rules of the TNM AJCC v7 classification system.|NCI|N|
C2981952|A pathologic finding about one or more characteristics of soft tissue sarcoma, following the rules of the TNM AJCC v7 classification system as they pertain to staging of the primary tumor.|NCI|N|
C2981953|Soft tissue sarcoma in which the primary tumor cannot be assessed. (from AJCC 7th Ed.)|NCI|N|
C2981954|Soft tissue sarcoma with no evidence of primary tumor. (from AJCC 7th Ed.)|NCI|N|
C2981955|Soft tissue sarcoma with tumor measuring 5 cm or less in greatest dimension. (from AJCC 7th Ed.)|NCI|N|
C2981956|Soft tissue sarcoma with superficial tumor measuring 5 cm or less in greatest dimension. (from AJCC 7th Ed.)|NCI|N|
C2981957|Soft tissue sarcoma with deep tumor measuring 5 cm or less in greatest dimension. (from AJCC 7th Ed.)|NCI|N|
C2981958|Soft tissue sarcoma with tumor measuring more than 5 cm in greatest dimension. (from AJCC 7th Ed.)|NCI|N|
C2981959|Soft tissue sarcoma with superficial tumor measuring more than 5 cm in greatest dimension. (from AJCC 7th Ed.)|NCI|N|
C2981960|Soft tissue sarcoma with deep tumor measuring more than 5 cm in greatest dimension. (from AJCC 7th Ed.)|NCI|N|
C2981961|A pathologic finding about one or more characteristics of soft tissue sarcoma, following the rules of the TNM AJCC v7 classification system as they pertain to staging of regional lymph nodes.|NCI|N|
C2981962|Soft tissue sarcoma in which regional lymph nodes cannot be assessed. (from AJCC 7th Ed.)|NCI|N|
C2981963|Soft tissue sarcoma without regional lymph node metastasis. (from AJCC 7th Ed.)|NCI|N|
C2981964|Soft tissue sarcoma with regional lymph node metastasis. Note: Presence of positive nodes (N1) in M0 tumors is considered Stage III. (from AJCC 7th Ed.)|NCI|N|
C2981965|A pathologic finding about one or more characteristics of soft tissue sarcoma, following the rules of the TNM AJCC v7 classification system as they pertain to distant metastases. There is no pathologic M0 for soft tissue sarcoma.|NCI|N|
C2981966|Soft tissue sarcoma with distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2981967|A clinical finding about one or more characteristics of soft tissue sarcoma, following the rules of the TNM AJCC v7 classification system.|NCI|N|
C2981968|A clinical finding about one or more characteristics of soft tissue sarcoma, following the rules of the TNM AJCC v7 classification system as they pertain to distant metastases.|NCI|N|
C2981969|Soft tissue sarcoma without evidence of distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2981970|Soft tissue sarcoma with distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2981972|A finding about one or more characteristics of skin carcinoma, following the rules of the TNM AJCC v7 classification system. It applies to skin squamous cell carcinoma, Merkel cell carcinoma, and other nonmelanoma skin carcinomas. (from AJCC 7th Ed.)|NCI|N|
C2981973|A finding about one or more characteristics of skin squamous cell carcinoma or other nonmelanoma skin carcinomas excluding Merkel cell carcinoma, following the rules of the TNM AJCC v7 classification system. (from AJCC 7th Ed.)|NCI|N|
C2981974|A pathologic finding about one or more characteristics of skin squamous cell carcinoma or other skin carcinomas excluding Merkel cell carcinoma, following the rules of the TNM AJCC v7 classification system. TNM pathologic findings are based on histopathologic examination of one or more tissue specimens acquired during surgery. (from AJCC 7th Ed.)|NCI|N|
C2981975|A pathologic finding about one or more characteristics of skin squamous cell carcinoma or other skin carcinomas, following the rules of the TNM AJCC v7 classification system as they pertain to staging of the primary tumor. It excludes cutaneous squamous cell carcinoma of the eyelid and Merkel cell carcinoma. The TNM pathologic and clinical primary tumor classifications of skin squamous cell carcinoma or other skin carcinomas are the same. (from AJCC 7th Ed.)|NCI|N|
C2981976|Skin squamous cell carcinoma or other skin carcinomas in which the primary tumor cannot be assessed. (from AJCC 7th Ed.)|NCI|N|
C2981977|Skin squamous cell carcinoma or other skin carcinomas with no evidence of primary tumor. (from AJCC 7th Ed.)|NCI|N|
C2981978|Skin squamous cell carcinoma or other skin carcinomas with a finding of carcinoma in situ. (from AJCC 7th Ed.)|NCI|N|
C2981979|Skin squamous cell carcinoma or other skin carcinomas with a tumor size 2 cm or less in greatest dimension with less than two high-risk features. High-risk features for the primary tumor staging are defined as follows: depth/invasion of more than 2 mm thickness; Clark level equal to or greater than IV; and perineural invasion. Anatomic location: primary site ear and primary site non-hair-bearing lip. Differentiation: poorly differentiated or undifferentiated. (from AJCC 7th Ed.)|NCI|N|
C2981980|Skin squamous cell carcinoma or other skin carcinomas with a tumor size greater than 2 cm in greatest dimension or tumor of any size with two or more high-risk features. High-risk features for the primary tumor staging are defined as follows: depth/invasion of more than 2 mm thickness; Clark level equal to or greater than IV; and perineural invasion. Anatomic location: primary site ear and primary site non-hair-bearing lip. Differentiation: poorly differentiated or undifferentiated. (from AJCC 7th Ed.)|NCI|N|
C2981981|Skin squamous cell carcinoma or other skin carcinomas with tumor invasion of maxilla, mandible, orbit, or temporal bone. (from AJCC 7th Ed.)|NCI|N|
C2981982|Skin squamous cell carcinoma or other skin carcinomas with tumor invasion of skeleton (axial or appendicular) or perineural invasion of skull base. (from AJCC 7th Ed.)|NCI|N|
C2981983|A pathologic finding about one or more characteristics of skin squamous cell carcinoma or other skin carcinomas, following the rules of the TNM AJCC v7 classification system as they pertain to staging of regional lymph nodes. The TNM pathologic and clinical regional lymph nodes classifications of skin squamous cell carcinoma or other skin carcinomas are the same. (from AJCC 7th Ed.)|NCI|N|
C2981984|Skin squamous cell carcinoma or other skin carcinomas in which regional lymph nodes cannot be assessed. (from AJCC 7th Ed.)|NCI|N|
C2981985|Skin squamous cell carcinoma or other skin carcinomas without regional lymph node metastases. (from AJCC 7th Ed.)|NCI|N|
C2981986|Skin squamous cell carcinoma or other skin carcinomas with metastasis in a single ipsilateral lymph node, 3 cm or less in greatest dimension. (from AJCC 7th Ed.)|NCI|N|
C2981987|Skin squamous cell carcinoma or other skin carcinomas with metastasis in a single ipsilateral lymph node, more than 3 cm but not more than 6 cm in greatest dimension; or in multiple ipsilateral lymph nodes, none more than 6 cm in greatest dimension; or in bilateral or contralateral lymph nodes, none more than 6 cm in greatest dimension. (from AJCC 7th Ed.)|NCI|N|
C2981988|Skin squamous cell carcinoma or other skin carcinomas with metastasis in a single ipsilateral lymph node, more than 3 cm but not more than 6 cm in greatest dimension. (from AJCC 7th Ed.)|NCI|N|
C2981989|Skin squamous cell carcinoma or other skin carcinomas with metastasis in multiple ipsilateral lymph nodes, none more than 6 cm in greatest dimension. (from AJCC 7th Ed.)|NCI|N|
C2981990|Skin squamous cell carcinoma or other skin carcinomas with metastasis in bilateral or contralateral lymph nodes, none more than 6 cm in greatest dimension. (from AJCC 7th Ed.)|NCI|N|
C2981991|Skin squamous cell carcinoma or other skin carcinomas with metastasis in a lymph node, more than 6 cm in greatest dimension. (from AJCC 7th Ed.)|NCI|N|
C2981992|A pathologic finding about one or more characteristics of skin squamous cell carcinoma or other skin carcinomas, following the rules of the TNM AJCC v7 classification system as they pertain to distant metastases. (from AJCC 7th Ed.)|NCI|N|
C2981993|Skin squamous cell carcinoma or other skin carcinomas with distant metastases. (from AJCC 7th Ed.)|NCI|N|
C2981994|A clinical finding about one or more characteristics of skin squamous cell carcinoma or other skin carcinomas, following the rules of the TNM AJCC v7 classification system. TNM clinical findings are based on inspection and palpation of the involved area and the regional lymph nodes. (from AJCC 7th Ed.)|NCI|N|
C2981995|A clinical finding about one or more characteristics of skin squamous cell carcinoma or other skin carcinomas, following the rules of the TNM AJCC v7 classification system as they pertain to distant metastases. (from AJCC 7th Ed.)|NCI|N|
C2981996|Skin squamous cell carcinoma or other skin carcinomas without distant metastases. (from AJCC 7th Ed.)|NCI|N|
C2981997|Skin squamous cell carcinoma or other skin carcinomas with distant metastases. (from AJCC 7th Ed.)|NCI|N|
C2981998|A finding about one or more characteristics of Merkel cell carcinoma, following the rules of the TNM AJCC v7 classification system. (from AJCC 7th Ed.)|NCI|N|
C2981999|A pathologic finding about one or more characteristics of Merkel cell carcinoma, following the rules of the TNM AJCC v7 classification system. TNM pathologic findings are based on the histologic examination of the regional lymph nodes following focused (sentinel lymph node biopsy), therapeutic, or complete lymphadenectomy. (from AJCC 7th Ed.)|NCI|N|
C2982000|A pathologic finding about one or more characteristics of Merkel cell carcinoma, following the rules of the TNM AJCC v7 classification system as they pertain to staging of the primary tumor. The TNM pathologic and clinical primary tumor classifications of Merkel cell carcinoma are the same. (from AJCC 7th Ed.)|NCI|N|
C2982001|Merkel Cell Carcinoma in which the primary tumor cannot be assessed. (from AJCC 7th Ed.)|NCI|N|
C2982002|Merkel Cell Carcinoma with no evidence of primary tumor (e.g., nodal/metastatic presentation without associated primary). (from AJCC 7th Ed.)|NCI|N|
C2982004|Merkel cell carcinoma with a finding of in situ primary tumor. (from AJCC 7th Ed.)|NCI|N|
C2982005|Merkel cell carcinoma with less than or equal to 2 cm maximum tumor dimension. (from AJCC 7th Ed.)|NCI|N|
C2982006|Merkel cell carcinoma with greater than 2 cm but not more than 5 cm maximum tumor dimension. (from AJCC 7th Ed.)|NCI|N|
C2982007|A tympanometry test result indicating the lack of movement of the tympanic membrane due to middle ear pathology.|NCI|N|
C2982008|A tympanometry test result indicating the retraction of the tympanic membrane resulting from negative ear pressure.|NCI|N|
C2982009|Merkel cell carcinoma with over 5 cm maximum tumor dimension. (from AJCC 7th Ed.)|NCI|N|
C2982010|Merkel cell carcinoma with primary tumor invading bone, muscle, fascia, or cartilage. (from AJCC 7th Ed.)|NCI|N|
C2982015|A pathologic finding about one or more characteristics of Merkel cell carcinoma, following the rules of the TNM AJCC v7 classification system as they pertain to staging of regional lymph nodes. The TNM pathologic and clinical regional lymph nodes classifications of Merkel cell carcinoma are not the same. TNM pathologic regional lymph nodes findings are based on the histologic examination of the regional lymph nodes, following focused (sentinel lymph node biopsy), therapeutic, or complete lymphadenectomy. (from AJCC 7th Ed.)|NCI|N|
C2982016|Merkel cell carcinoma in which the regional lymph nodes cannot be assessed. (from AJCC 7th Ed.)|NCI|N|
C2982017|Merkel cell carcinoma with negative regional lymph nodes by pathologic examination. (from AJCC 7th Ed.)|NCI|N|
C2982018|Merkel cell carcinoma with metastasis in regional lymph node(s). (from AJCC 7th Ed.)|NCI|N|
C2982019|Merkel cell carcinoma with micrometastasis in regional lymph node(s). Micrometastases are diagnosed after sentinel or elective lymphadenectomy. (from AJCC 7th Ed.)|NCI|N|
C2982020|Merkel cell carcinoma with macrometastasis in regional lymph node(s). Macrometastases are defined as clinically detectable nodal metastases confirmed by therapeutic lymphadenectomy or needle biopsy. (from AJCC 7th Ed.)|NCI|N|
C2982021|Merkel cell carcinoma with in transit metastasis. In transit metastasis is defined as a tumor distinct from the primary lesion and located either (1) between the primary lesion and the draining regional lymph nodes or (2) distal to the primary lesion. (from AJCC 7th Ed.)|NCI|N|
C2982022|A pathologic finding about one or more characteristics of Merkel cell carcinoma, following the rules of the TNM AJCC v7 classification system as they pertain to distant metastases. (from AJCC 7th Ed.)|NCI|N|
C2982023|Merkel cell carcinoma with metastasis beyond regional lymph nodes. (from AJCC 7th Ed.)|NCI|N|
C2982024|Merkel cell carcinoma with metastasis to skin, subcutaneous tissues or distant lymph nodes. (from AJCC 7th Ed.)|NCI|N|
C2982025|Merkel cell carcinoma with metastasis to lung. (from AJCC 7th Ed.)|NCI|N|
C2982026|Merkel cell carcinoma with metastasis to all other visceral sites. (from AJCC 7th Ed.)|NCI|N|
C2982027|A clinical finding about one or more characteristics of Merkel cell carcinoma, following the rules of the TNM AJCC v7 classification system. TNM clinical findings are based on clinical inspection and palpation of the involved area and the regional lymph nodes and/or radiologic studies. The TNM clinical and pathologic primary tumor classifications of Merkel cell carcinoma are the same. (from AJCC 7th Ed.)|NCI|N|
C2982028|A clinical finding about one or more characteristics of Merkel cell carcinoma, following the rules of the TNM AJCC v7 classification system as they pertain to staging of regional lymph nodes. The TNM clinical and pathologic regional lymph nodes classifications of Merkel cell carcinoma are not the same. TNM clinical regional lymph nodes findings are based on clinical inspection and palpation of the regional lymph nodes and/or radiologic studies. (from AJCC 7th Ed.)|NCI|N|
C2982029|Merkel cell carcinoma in which the regional lymph nodes cannot be assessed. (from AJCC 7th Ed.)|NCI|N|
C2982030|Merkel cell carcinoma with negative regional lymph nodes by clinical examination (inspection, palpation, and/or imaging). No pathologic node examination is performed. (from AJCC 7th Ed.)|NCI|N|
C2982031|Merkel cell carcinoma with metastasis in regional lymph node(s). (from AJCC 7th Ed.)|NCI|N|
C2982032|Merkel cell carcinoma in transit metastasis. In transit metastasis is defined as a tumor distinct from the primary lesion and located either (1) between the primary lesion and the draining regional lymph nodes or (2) distal to the primary lesion. (from AJCC 7th Ed.)|NCI|N|
C2982033|A clinical finding about one or more characteristics of Merkel cell carcinoma, following the rules of the TNM AJCC v7 classification system as they pertain to distant metastases. (from AJCC 7th Ed.)|NCI|N|
C2982034|Merkel cell carcinoma without distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2982038|Merkel cell carcinoma with metastasis beyond regional lymph nodes. (from AJCC 7th Ed.)|NCI|N|
C2982039|Merkel cell carcinoma with metastasis to skin, subcutaneous tissues or distant lymph nodes. (from AJCC 7th Ed.)|NCI|N|
C2982040|Merkel cell carcinoma with metastasis to lung. (from AJCC 7th Ed.)|NCI|N|
C2982041|Merkel cell carcinoma with metastasis to all other visceral sites. (from AJCC 7th Ed.)|NCI|N|
C2982042|A finding about one or more characteristics of ophthalmic sites cancer, following the rules of the TNM AJCC v7 classification system.|NCI|N|
C2982043|A finding about one or more characteristics of carcinoma of the eyelid, following the rules of the TNM AJCC v7 classification system.|NCI|N|
C2982044|A pathologic finding about one or more characteristics of carcinoma of the eyelid, following the rules of the TNM AJCC v7 classification system. The surgical nature of the histopathology specimen should be noted including incisional biopsy, excisional biopsy, wide local excision, radical excision including exenteration. The specimen should be carefully oriented and inked for margin evaluation. (from AJCC 7th Ed.)|NCI|N|
C2982045|A pathologic finding about one or more characteristics of carcinoma of the eyelid, following the rules of the TNM AJCC v7 classification system as they pertain to staging of the primary tumor.|NCI|N|
C2982046|Carcinoma of the eyelid in which the primary tumor cannot be assessed. (from AJCC 7th Ed.)|NCI|N|
C2982047|Carcinoma of the eyelid with no evidence of a primary tumor. (from AJCC 7th Ed.)|NCI|N|
C2982048|Carcinoma of the eyelid with a finding of carcinoma in situ. (from AJCC 7th Ed.)|NCI|N|
C2982049|Carcinoma of the eyelid with tumor measuring 5 mm or less in greatest dimension and not invading the tarsal plate or eyelid margin. (from AJCC 7th Ed.)|NCI|N|
C2982050|Carcinoma of the eyelid with tumor measuring more than 5 mm, but not more than 10 mm in greatest dimension. Or, any tumor invading the tarsal plate or eyelid margin. (from AJCC 7th Ed.)|NCI|N|
C2982051|Carcinoma of the eyelid with tumor measuring more than 10 mm, but not more than 20 mm in greatest dimension. Or, tumor involving the full thickness of eyelid. (from AJCC 7th Ed.)|NCI|N|
C2982052|Carcinoma of the eyelid with tumor measuring more than 20 mm in greatest dimension. Or, any tumor invading adjacent ocular or orbital structures. Or, any T with perineural tumor invasion. (from AJCC 7th Ed.)|NCI|N|
C2982053|Carcinoma of the eyelid for which complete tumor resection requires enucleation, exenteration, or bone resection. (from AJCC 7th Ed.)|NCI|N|
C2982054|Unresectable carcinoma of the eyelid due to extensive invasion of ocular, orbital, and craniofacial structures, or brain. (from AJCC 7th Ed.)|NCI|N|
C2982055|A pathologic finding about one or more characteristics of carcinoma of the eyelid, following the rules of the TNM AJCC v7 classification system as they pertain to staging of regional lymph nodes.|NCI|N|
C2982056|Carcinoma of the eyelid in which the regional lymph nodes cannot be assessed. (from AJCC 7th Ed.)|NCI|N|
C2982057|Carcinoma of the eyelid with no regional lymph node metastasis, based upon lymph node biopsy. (from AJCC 7th Ed.)|NCI|N|
C2982058|Carcinoma of the eyelid with regional lymph node metastasis. (from AJCC 7th Ed.)|NCI|N|
C2982059|A pathologic finding about one or more characteristics of carcinoma of the eyelid, following the rules of the TNM AJCC v7 classification system as they pertain to distant metastases. There is no pathologic M0 for carcinoma of the eyelid. (from AJCC 7th Ed.)|NCI|N|
C2982060|Carcinoma of the eyelid with distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2982061|A clinical finding about one or more characteristics of carcinoma of the eyelid, following the rules of the TNM AJCC v7 classification system. Staging of eyelid carcinoma begins with a comprehensive ophthalmic, orbital, and periorbital clinical examination. This approach includes a slit lamp or equivalent biomicroscopy evaluation, neuro-ophthalmic examination for evidence of perineural invasion, and regional assessment of the head and neck including lymphatic drainage basins. (from AJCC 7th Ed.)|NCI|N|
C2982062|A clinical finding about one or more characteristics of carcinoma of the eyelid, following the rules of the TNM AJCC v7 classification system as they pertain to staging of regional lymph nodes.|NCI|N|
C2982063|Carcinoma of the eyelid in which the regional lymph nodes cannot be assessed. (from AJCC 7th Ed.)|NCI|N|
C2982064|Carcinoma of the eyelid with no regional lymph node metastasis, based upon clinical evaluation or imaging. (from AJCC 7th Ed.)|NCI|N|
C2982065|Carcinoma of the eyelid with regional lymph node metastasis. (from AJCC 7th Ed.)|NCI|N|
C2982067|A clinical finding about one or more characteristics of carcinoma of the eyelid, following the rules of the TNM AJCC v7 classification system as they pertain to distant metastases.|NCI|N|
C2982068|Carcinoma of the eyelid without evidence of distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2982069|Carcinoma of the eyelid with distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2982070|A finding about one or more characteristics of carcinoma of the conjunctiva, following the rules of the TNM AJCC v7 classification system. No stage grouping is presently recommended for carcinoma of the conjunctiva. (from AJCC 7th Ed.)|NCI|N|
C2982071|A pathologic finding about one or more characteristics of carcinoma of the conjunctiva, following the rules of the TNM AJCC v7 classification system. Complete resection of the primary site is indicated (if possible). The specimen should be thoroughly sampled for histologic study of surgical margins, type of tumor, and grade of malignancy. (from AJCC 7th Ed.)|NCI|N|
C2982072|A pathologic finding about one or more characteristics of carcinoma of the conjunctiva, following the rules of the TNM AJCC v7 classification system as they pertain to staging of the primary tumor.|NCI|N|
C2982073|Carcinoma of the conjunctiva in which the primary tumor cannot be assessed. (from AJCC 7th Ed.)|NCI|N|
C2982074|Carcinoma of the conjunctiva with no evidence of a primary tumor. (from AJCC 7th Ed.)|NCI|N|
C2982075|Carcinoma of the conjunctiva with a finding of carcinoma in situ. (from AJCC 7th Ed.)|NCI|N|
C2982076|Carcinoma of the conjunctiva with tumor measuring 5 mm or less in greatest dimension. Note: tumors occur most commonly in the bulbar limbal conjunctiva. (from AJCC 7th Ed.)|NCI|N|
C2982077|Carcinoma of the conjunctiva with tumor measuring more than 5 mm in greatest dimension without invasion of adjacent structures. Adjacent structures include the cornea (3, 6, 9, or 12 clock hours), intraocular compartments, forniceal conjunctiva (lower and/or upper), palpebral conjunctiva (lower and/or upper), tarsal conjunctiva (lower and/or upper), lacrimal punctum and canaliculi (lower and/or upper), plica, caruncle, posterior eyelid lamella, anterior eyelid lamella, and/or eyelid margin (lower and/or upper). (from AJCC 7th Ed.)|NCI|N|
C2982079|Carcinoma of the conjunctiva with tumor invading adjacent structures (excluding the orbit). Adjacent structures include the cornea (3, 6, 9, or 12 clock hours), intraocular compartments, forniceal conjunctiva (lower and/or upper), palpebral conjunctiva (lower and/or upper), tarsal conjunctiva (lower and/or upper), lacrimal punctum and canaliculi (lower and/or upper), plica, caruncle, posterior eyelid lamella, anterior eyelid lamella, and/or eyelid margin (lower and/or upper). (from AJCC 7th Ed.)|NCI|N|
C2982080|Carcinoma of the conjunctiva with tumor invading the orbit with or without further extension. (from AJCC 7th Ed.)|NCI|N|
C2982081|Carcinoma of the conjunctiva with tumor invading the orbital soft tissues, without bone invasion. (from AJCC 7th Ed.)|NCI|N|
C2982082|Carcinoma of the conjunctiva with tumor invading bone. (from AJCC 7th Ed.)|NCI|N|
C2982083|Carcinoma of the conjunctiva with tumor invading adjacent paranasal sinuses. (from AJCC 7th Ed.)|NCI|N|
C2982085|Carcinoma of the conjunctiva with tumor invading the brain. (from AJCC 7th Ed.)|NCI|N|
C2982086|A pathologic finding about one or more characteristics of carcinoma of the conjunctiva, following the rules of the TNM AJCC v7 classification system as they pertain to staging of regional lymph nodes.|NCI|N|
C2982087|Carcinoma of the conjunctiva in which the regional lymph nodes cannot be assessed. (from AJCC 7th Ed.)|NCI|N|
C2982088|Carcinoma of the conjunctiva with no regional lymph node metastasis. (from AJCC 7th Ed.)|NCI|N|
C2982089|Carcinoma of the conjunctiva with regional lymph node metastasis. (from AJCC 7th Ed.)|NCI|N|
C2982090|A pathologic finding about one or more characteristics of carcinoma of the conjunctiva, following the rules of the TNM AJCC v7 classification system as they pertain to distant metastases. There is no pathologic M0 for carcinoma of the conjunctiva. (from AJCC 7th Ed.)|NCI|N|
C2982091|Carcinoma of the conjunctiva with distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2982092|A clinical finding about one or more characteristics of carcinoma of the conjunctiva, following the rules of the TNM AJCC v7 classification system. The assessment of cancer is based on inspection, slit-lamp examination, and palpation of the regional lymph nodes. All conjunctival surfaces are inspected and photographed with eversion of the upper eyelid. High-frequency ultrasound (UBM) imaging should be performed when the tumor is found to be affixed to the globe and when intraocular invasion is suspected. Low-frequency ultrasound may also be used to evaluate the sclera, eye, and orbit. (from AJCC 7th Ed.)|NCI|N|
C2982093|A clinical finding about one or more characteristics of carcinoma of the conjunctiva, following the rules of the TNM AJCC v7 classification system as they pertain to distant metastases.|NCI|N|
C2982094|Carcinoma of the conjunctiva without evidence of distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2982095|Carcinoma of the conjunctiva with distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2982096|A finding about one or more characteristics of melanoma of the conjunctiva, following the rules of the TNM AJCC v7 classification system. No stage grouping is presently recommended for melanoma of the conjunctiva. (from AJCC 7th Ed.)|NCI|N|
C2982097|A pathologic finding about one or more characteristics of melanoma of the conjunctiva, following the rules of the TNM AJCC v7 classification system. Complete resection of the primary site is indicated. Histopathologic evaluation for negative peripheral and deep margins should be performed. To best judge the depth of penetration of the tumor, sections should be made perpendicular to the epithelial surface. (from AJCC 7th Ed.)|NCI|N|
C2982098|A pathologic finding about one or more characteristics of melanoma of the conjunctiva, following the rules of the TNM AJCC v7 classification system as they pertain to staging of the primary tumor.|NCI|N|
C2982099|Melanoma of the conjunctiva in which the primary tumor cannot be assessed. (from AJCC 7th Ed.)|NCI|N|
C2982100|Melanoma of the conjunctiva with no evidence of a primary tumor. (from AJCC 7th Ed.)|NCI|N|
C2982102|Melanoma of the conjunctiva confined to the epithelium. (from AJCC 7th Ed.)|NCI|N|
C2982103|Melanoma of the bulbar conjunctiva with tumor measuring not more than 0.5 mm in thickness with invasion of the substantia propria. (from AJCC 7th Ed.)|NCI|N|
C2982104|Melanoma of the bulbar conjunctiva with tumor measuring more than 0.5 mm but not more than 1.5 mm in thickness with invasion of the substantia propria. (from AJCC 7th Ed.)|NCI|N|
C2982105|Melanoma of the bulbar conjunctiva with tumor measuring more than 1.5 mm in thickness with invasion of the substantia propria. (from AJCC 7th Ed.)|NCI|N|
C2982106|Melanoma of the palpebral, forniceal, or caruncular conjunctiva with tumor measuring not more than 0.5 mm in thickness with invasion of the substantia propria. (from AJCC 7th Ed.)|NCI|N|
C2982107|Melanoma of the palpebral, forniceal, or caruncular conjunctiva with tumor measuring more than 0.5 mm but not more than 1.5 mm in thickness with invasion of the substantia propria. (from AJCC 7th Ed.)|NCI|N|
C2982109|Melanoma of the palpebral, forniceal, or caruncular conjunctiva with tumor measuring more than 1.5 mm in thickness with invasion of the substantia propria. (from AJCC 7th Ed.)|NCI|N|
C2982110|Melanoma of the conjunctiva with tumor invading the eye, eyelid, nasolacrimal system, sinuses, or orbit. (from AJCC 7th Ed.)|NCI|N|
C2982111|Melanoma of the conjunctiva with tumor invading the central nervous system. (from AJCC 7th Ed.)|NCI|N|
C2982112|A pathologic finding about one or more characteristics of melanoma of the conjunctiva, following the rules of the TNM AJCC v7 classification system as they pertain to staging of regional lymph nodes.|NCI|N|
C2982113|Melanoma of the conjunctiva in which the regional lymph nodes cannot be assessed. (from AJCC 7th Ed.)|NCI|N|
C2982114|Melanoma of the conjunctiva with no regional lymph node metastasis. (from AJCC 7th Ed.)|NCI|N|
C2982115|Melanoma of the conjunctiva with regional lymph node metastasis. (from AJCC 7th Ed.)|NCI|N|
C2982116|A pathologic finding about one or more characteristics of melanoma of the conjunctiva, following the rules of the TNM AJCC v7 classification system as they pertain to distant metastases. There is no pathologic M0 for melanoma of the conjunctiva. (from AJCC 7th Ed.)|NCI|N|
C2982117|Melanoma of the conjunctiva with distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2982118|A clinical finding about one or more characteristics of melanoma of the conjunctiva, following the rules of the TNM AJCC v7 classification system. The classification applies only to conjunctival melanoma and primary acquired melanosis with atypia. In general, there should be a histologic evaluation of the tumor. The clinical assessment of a melanocytic conjunctival tumor is based on inspection, slit-lamp examination, and palpation of the regional lymph nodes. All conjunctival surfaces should be inspected and photographed (including eversion of the upper eyelid). (from AJCC 7th Ed.)|NCI|N|
C2982119|A clinical finding about one or more characteristics of melanoma of the conjunctiva, following the rules of the TNM AJCC v7 classification system as they pertain to staging of the primary tumor.|NCI|N|
C2982121|Melanoma of the conjunctiva in which the primary tumor cannot be assessed. (from AJCC 7th Ed.)|NCI|N|
C2982122|Melanoma of the conjunctiva with no evidence of a primary tumor. (from AJCC 7th Ed.)|NCI|N|
C2982123|Melanoma confined to the conjunctival epithelium. (from AJCC 7th Ed.)|NCI|N|
C2982124|Melanoma of the bulbar conjunctiva less than or equal to 1 quadrant. Note: Quadrants are defined by clock hour, starting at the limbus (e.g., 6, 9, 12, 3) extending from the central cornea, to and beyond the eyelid margins. This will bisect the caruncle. (from AJCC 7th Ed.)|NCI|N|
C2982125|Melanoma of the bulbar conjunctiva more than 1 but less than or equal to 2 quadrants. (from AJCC 7th Ed.)|NCI|N|
C2982126|Melanoma of the bulbar conjunctiva more than 2 but less than or equal to 3 quadrants. (from AJCC 7th Ed.)|NCI|N|
C2982127|Melanoma of the bulbar conjunctiva greater than 3 quadrants. (from AJCC 7th Ed.)|NCI|N|
C2982128|Melanoma of the nonbulbar (palpebral, forniceal, but no caruncular) conjunctiva less than or equal to 1 quadrant. (from AJCC 7th Ed.)|NCI|N|
C2982129|Melanoma of the nonbulbar (palpebral, forniceal, but no caruncular) conjunctiva greater than 1 quadrant. (from AJCC 7th Ed.)|NCI|N|
C2982130|Any caruncular, less than or equal to 1 quadrant. (from AJCC 7th Ed.)|NCI|N|
C2982131|Any caruncular, greater than 1 quadrant. (from AJCC 7th Ed.)|NCI|N|
C2982132|Melanoma of the conjunctiva with local invasion. (from AJCC 7th Ed.)|NCI|N|
C2982133|Melanoma of the conjunctiva invading the globe. (from AJCC 7th Ed.)|NCI|N|
C2982134|Melanoma of the conjunctiva invading the eyelid. (from AJCC 7th Ed.)|NCI|N|
C2982135|Melanoma of the conjunctiva invading the orbit. (from AJCC 7th Ed.)|NCI|N|
C2982136|Melanoma of the conjunctiva invading a sinus. (from AJCC 7th Ed.)|NCI|N|
C2982137|Melanoma of the conjunctiva invading the central nervous system. (from AJCC 7th Ed.)|NCI|N|
C2982138|A clinical finding about one or more characteristics of melanoma of the conjunctiva, following the rules of the TNM AJCC v7 classification system as they pertain to staging of regional lymph nodes.|NCI|N|
C2982139|Melanoma of the conjunctiva in which the regional lymph nodes cannot be assessed. (from AJCC 7th Ed.)|NCI|N|
C2982140|Melanoma of the conjunctiva with no regional lymph node metastasis; biopsy performed. (from AJCC 7th Ed.)|NCI|N|
C2982141|Melanoma of the conjunctiva with no regional lymph node metastasis; biopsy not performed. (from AJCC 7th Ed.)|NCI|N|
C2982142|Melanoma of the conjunctiva with regional lymph node metastasis. (from AJCC 7th Ed.)|NCI|N|
C2982143|A clinical finding about one or more characteristics of melanoma of the conjunctiva, following the rules of the TNM AJCC v7 classification system as they pertain to distant metastases.|NCI|N|
C2982144|Melanoma of the conjunctiva without evidence of distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2982145|Melanoma of the conjunctiva with distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2982146|A finding about one or more characteristics of melanoma of the uvea, following the rules of the TNM AJCC v7 classification system.|NCI|N|
C2982147|A pathologic finding about one or more characteristics of melanoma of the uvea, following the rules of the TNM AJCC v7 classification system. Resection of the primary tumor by iridectomy, iridocyclectomy, local resection, or enucleation is needed for complete pathologic staging. Assessment of the extent of the tumor, measured in clock hours of involvement, basal dimensions, tumor thickness, and margins of resection, is necessary. (from AJCC 7th Ed.)|NCI|N|
C2982148|A pathologic finding about one or more characteristics of melanoma of the uvea, following the rules of the TNM AJCC v7 classification system as they pertain to staging of the primary tumor.|NCI|N|
C2982149|A pathologic finding about one or more characteristics of melanoma of the iris, following the rules of the TNM AJCC v7 classification system as they pertain to staging of the primary tumor.|NCI|N|
C2982150|Melanoma of the iris in which the primary tumor cannot be assessed. (from AJCC 7th Ed.)|NCI|N|
C2982151|Melanoma of the iris with no evidence of a primary tumor. (from AJCC 7th Ed.)|NCI|N|
C2982152|Melanoma of the iris with tumor limited to the iris. (from AJCC 7th Ed.)|NCI|N|
C2982153|Melanoma of the iris with tumor limited to the iris not more than 3 clock hours in size. (from AJCC 7th Ed.)|NCI|N|
C2982154|Melanoma of the iris with tumor limited to the iris more than 3 clock hours in size. (from AJCC 7th Ed.)|NCI|N|
C2982155|Melanoma of the iris with tumor limited to the iris with secondary glaucoma. (from AJCC 7th Ed.)|NCI|N|
C2982156|Melanoma of the iris with tumor confluent with or extending into the ciliary body, choroid, or both. (from AJCC 7th Ed.)|NCI|N|
C2982157|Melanoma of the iris with tumor confluent with or extending into the ciliary body, choroid, or both, with secondary glaucoma. (from AJCC 7th Ed.)|NCI|N|
C2982158|Melanoma of the iris with tumor confluent with or extending into the ciliary body, choroid, or both, with sclera extension. (from AJCC 7th Ed.)|NCI|N|
C2982159|Melanoma of the iris with tumor confluent with or extending into the ciliary body, choroid, or both, with sclera extension and secondary glaucoma. (from AJCC 7th Ed.)|NCI|N|
C2982160|Melanoma of the iris with extrascleral extension. (from AJCC 7th Ed.)|NCI|N|
C2982161|Melanoma of the iris with extrascleral extension less than or equal to 5 mm in diameter. (from AJCC 7th Ed.)|NCI|N|
C2982162|Melanoma of the iris with extrascleral extension more than 5 mm in diameter. (from AJCC 7th Ed.)|NCI|N|
C2982163|A pathologic finding about one or more characteristics of melanoma of the ciliary body and choroid, following the rules of the TNM AJCC v7 classification system as they pertain to staging of the primary tumor.|NCI|N|
C2982164|Melanoma of the ciliary body and choroid in which the primary tumor cannot be assessed. (from AJCC 7th Ed.)|NCI|N|
C2982165|Melanoma of the ciliary body and choroid with no evidence of a primary tumor. (from AJCC 7th Ed.)|NCI|N|
C2982166|Tumor size category 1. (from AJCC 7th Ed.)|NCI|N|
C2982167|Tumor size category 1 without ciliary body involvement and extraocular extension. (from AJCC 7th Ed.)|NCI|N|
C2982168|Tumor size category 1 with ciliary body involvement. (from AJCC 7th Ed.)|NCI|N|
C2982169|Tumor size category 1 without ciliary body involvement but with extraocular extension less than or equal to 5 mm in diameter. (from AJCC 7th Ed.)|NCI|N|
C2982170|Tumor size category 1 with ciliary body involvement and extraocular extension less than or equal to 5 mm in diameter. (from AJCC 7th Ed.)|NCI|N|
C2982171|Tumor size category 2. (from AJCC 7th Ed.)|NCI|N|
C2982172|Tumor size category 2 without ciliary body involvement and extraocular extension. (from AJCC 7th Ed.)|NCI|N|
C2982173|Tumor size category 2 with ciliary body involvement. (from AJCC 7th Ed.)|NCI|N|
C2982174|Tumor size category 2 without ciliary body involvement but with extraocular extension less than or equal to 5 mm in diameter. (from AJCC 7th Ed.)|NCI|N|
C2982175|Tumor size category 2 with ciliary body involvement and extraocular extension less than or equal to 5 mm in diameter. (from AJCC 7th Ed.)|NCI|N|
C2982176|Tumor size category 3. (from AJCC 7th Ed.)|NCI|N|
C2982177|Tumor size category 3 without ciliary body involvement and extraocular extension. (from AJCC 7th Ed.)|NCI|N|
C2982178|Tumor size category 3 with ciliary body involvement. (from AJCC 7th Ed.)|NCI|N|
C2982179|Tumor size category 3 without ciliary body involvement but with extraocular extension less than or equal to 5 mm in diameter. (from AJCC 7th Ed.)|NCI|N|
C2982180|Tumor size category 3 with ciliary body involvement and extraocular extension less than or equal to 5 mm in diameter. (from AJCC 7th Ed.)|NCI|N|
C2982181|Tumor size category 4. (from AJCC 7th Ed.)|NCI|N|
C2982182|Tumor size category 4 without ciliary body involvement and extraocular extension. (from AJCC 7th Ed.)|NCI|N|
C2982183|Tumor size category 4 with ciliary body involvement. (from AJCC 7th Ed.)|NCI|N|
C2982184|Tumor size category 4 without ciliary body involvement but with extraocular extension less than or equal to 5 mm in diameter. (from AJCC 7th Ed.)|NCI|N|
C2982185|Tumor size category 4 with ciliary body involvement and extraocular extension less than or equal to 5 mm in diameter. (from AJCC 7th Ed.)|NCI|N|
C2982186|Any tumor size category with extraocular extension more than 5 mm in diameter. (from AJCC 7th Ed.)|NCI|N|
C2982187|A pathologic finding about one or more characteristics of melanoma of the uvea, following the rules of the TNM AJCC v7 classification system as they pertain to staging of regional lymph nodes.|NCI|N|
C2982188|Melanoma of the uvea in which the regional lymph nodes cannot be assessed. (from AJCC 7th Ed.)|NCI|N|
C2982189|Melanoma of the uvea with no regional lymph node metastasis. (from AJCC 7th Ed.)|NCI|N|
C2982190|Melanoma of the uvea with regional lymph node metastasis. (from AJCC 7th Ed.)|NCI|N|
C2982191|A pathologic finding about one or more characteristics of melanoma of the uvea, following the rules of the TNM AJCC v7 classification system as they pertain to distant metastases. There is no pathologic M0 for melanoma of the uvea. (from AJCC 7th Ed.)|NCI|N|
C2982192|Melanoma of the uvea with distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2982193|Melanoma of the uvea with distant metastasis, with the largest diameter of the largest metastasis measuring 3 cm or less. (from AJCC 7th Ed.)|NCI|N|
C2982194|Melanoma of the uvea with distant metastasis, with the largest diameter of the largest metastasis measuring 3.1-8.0 cm. (from AJCC 7th Ed.)|NCI|N|
C2982195|Melanoma of the uvea with distant metastasis, with the largest diameter of the largest metastasis measuring 8.0 cm or more. (from AJCC 7th Ed.)|NCI|N|
C2982196|A clinical finding about one or more characteristics of melanoma of the uvea, following the rules of the TNM AJCC v7 classification system.|NCI|N|
C2982198|A clinical finding about one or more characteristics of melanoma of the uvea, following the rules of the TNM AJCC v7 classification system as they pertain to distant metastases.|NCI|N|
C2982199|Melanoma of the uvea in which regional lymph nodes cannot be assessed. (from AJCC 7th Ed.)|NCI|N|
C2982200|Melanoma of the uvea with distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2982201|Melanoma of the uvea with distant metastasis, with the largest diameter of the largest metastasis measuring 3 cm or less. (from AJCC 7th Ed.)|NCI|N|
C2982202|Melanoma of the uvea with distant metastasis, with the largest diameter of the largest metastasis measuring 3.1-8.0 cm. (from AJCC 7th Ed.)|NCI|N|
C2982203|Melanoma of the uvea with distant metastasis, with the largest diameter of the largest metastasis measuring 8.0 cm or more. (from AJCC 7th Ed.)|NCI|N|
C2982204|A finding about one or more characteristics of retinoblastoma, following the rules of the TNM AJCC v7 classification system.|NCI|N|
C2982205|A pathologic finding about one or more characteristics of retinoblastoma, following the rules of the TNM AJCC v7 classification system.|NCI|N|
C2982206|A pathologic finding about one or more characteristics of retinoblastoma, following the rules of the TNM AJCC v7 classification system as they pertain to staging of the primary tumor.|NCI|N|
C2982207|Retinoblastoma in which the primary tumor cannot be assessed. (from AJCC 7th Ed.)|NCI|N|
C2982208|Retinoblastoma with no evidence of a primary tumor. (from AJCC 7th Ed.)|NCI|N|
C2982209|Retinoblastoma with tumor confined to eye with no optic nerve or choroidal invasion. (from AJCC 7th Ed.)|NCI|N|
C2982210|Retinoblastoma with minimal optic nerve and/or choroidal invasion. (from AJCC 7th Ed.)|NCI|N|
C2982211|Retinoblastoma with tumor superficially invading optic nerve head but not extending past lamina cribrosa or tumor exhibiting focal choroidal invasion. (from AJCC 7th Ed.)|NCI|N|
C2982212|Retinoblastoma with tumor superficially invading optic nerve head but not extending past lamina cribrosa and exhibiting focal choroidal invasion. (from AJCC 7th Ed.)|NCI|N|
C2982213|Retinoblastoma with significant optic nerve and/or choroidal invasion. (from AJCC 7th Ed.)|NCI|N|
C2982214|Retinoblastoma with tumor invading optic nerve past lamina cribrosa but not to surgical resection line or tumor exhibiting massive choroidal invasion. (from AJCC 7th Ed.)|NCI|N|
C2982215|Retinoblastoma with tumor invading optic nerve past lamina cribrosa but not to surgical resection line and exhibiting massive choroidal invasion. (from AJCC 7th Ed.)|NCI|N|
C2982216|Retinoblastoma with tumor invading optic nerve to resection line or exhibiting extra-ocular extension elsewhere. (from AJCC 7th Ed.)|NCI|N|
C2982217|Retinoblastoma with tumor invading optic nerve to resection line but no extra-ocular extension is identified. (from AJCC 7th Ed.)|NCI|N|
C2982218|Retinoblastoma with tumor invading optic nerve to resection line and extra-ocular extension is identified. (from AJCC 7th Ed.)|NCI|N|
C2982219|A pathologic finding about one or more characteristics of retinoblastoma, following the rules of the TNM AJCC v7 classification system as they pertain to staging of regional lymph nodes.|NCI|N|
C2982220|Retinoblastoma in which the regional lymph nodes cannot be assessed. (from AJCC 7th Ed.)|NCI|N|
C2982221|Retinoblastoma with no regional lymph node involvement. (from AJCC 7th Ed.)|NCI|N|
C2982222|Retinoblastoma with regional lymph node involvement (preauricular, cervical). (from AJCC 7th Ed.)|NCI|N|
C2982223|A pathologic finding about one or more characteristics of retinoblastoma, following the rules of the TNM AJCC v7 classification system as they pertain to distant metastases. There is no pathologic M0 for retinoblastoma. (from AJCC 7th Ed.)|NCI|N|
C2982224|Retinoblastoma with metastasis to sites other than CNS. (from AJCC 7th Ed.)|NCI|N|
C2982225|Single lesion. (from AJCC 7th Ed.)|NCI|N|
C2982226|Multiple lesions. (from AJCC 7th Ed.)|NCI|N|
C2982227|CNS metastasis. (from AJCC 7th Ed.)|NCI|N|
C2982228|Discrete mass(es) without leptomeningeal and/or CSF involvement. (from AJCC 7th Ed.)|NCI|N|
C2982229|Leptomeningeal and/or CSF involvement. (from AJCC 7th Ed.)|NCI|N|
C2982230|A clinical finding about one or more characteristics of retinoblastoma, following the rules of the TNM AJCC v7 classification system. All suspected cases of retinoblastoma should have a neural imaging scan. (from AJCC 7th Ed.)|NCI|N|
C2982231|A clinical finding about one or more characteristics of retinoblastoma, following the rules of the TNM AJCC v7 classification system as they pertain to staging of the primary tumor.|NCI|N|
C2982232|Retinoblastoma in which the primary tumor cannot be assessed. (from AJCC 7th Ed.)|NCI|N|
C2982233|Retinoblastoma with no evidence of a primary tumor. (from AJCC 7th Ed.)|NCI|N|
C2982234|Retinoblastoma with tumor no more than 2/3 the volume of the eye with no vitreous or subretinal seeding. (from AJCC 7th Ed.)|NCI|N|
C2982235|No tumor in either eye is greater than 3 mm in largest dimension or located closer than 1.5 mm to the optic nerve or fovea. (from AJCC 7th Ed.)|NCI|N|
C2982236|At least one tumor is greater than 3 mm in largest dimension or located closer than 1.5 mm to the optic nerve or fovea. No retinal detachment or subretinal fluid beyond 5 mm from the base of the tumor. (from AJCC 7th Ed.)|NCI|N|
C2982237|At least one tumor is greater than 3 mm in largest dimension or located closer than 1.5 mm to the optic nerve or fovea, with retinal detachment or subretinal fluid beyond 5 mm from the base of the tumor. (from AJCC 7th Ed.)|NCI|N|
C2982238|Tumors no more than 2/3 the volume of the eye with vitreous or subretinal seeding. Can have retinal detachment. (from AJCC 7th Ed.)|NCI|N|
C2982239|Focal vitreous and/or subretinal seeding of fine aggregates of tumor cells is present, but no large clumps or ""snowballs"" of tumor cells. (from AJCC 7th Ed.)|NCI|N|
C2982240|Massive vitreous and/or subretinal seeding is present, defined as diffuse clumps or ""snowballs"" of tumor cells. (from AJCC 7th Ed.)|NCI|N|
C2982241|Severe intraocular disease. (from AJCC 7th Ed.)|NCI|N|
C2982242|Tumor fills more than 2/3 of the eye. (from AJCC 7th Ed.)|NCI|N|
C2982243|One or more complications are present, which may include tumor-associated neovascular or angle closure glaucoma, tumor extension into the anterior segment, hyphema, vitreous hemorrhage, or orbital cellulitis. (from AJCC 7th Ed.)|NCI|N|
C2982244|Extraocular disease detected by imaging studies. (from AJCC 7th Ed.)|NCI|N|
C2982245|Invasion of the optic nerve. (from AJCC 7th Ed.)|NCI|N|
C2982246|Invasion into the orbit. (from AJCC 7th Ed.)|NCI|N|
C2982247|Intracranial extension not past chiasm. (from AJCC 7th Ed.)|NCI|N|
C2982248|Intracranial extension past chiasm. (from AJCC 7th Ed.)|NCI|N|
C2982249|A clinical finding about one or more characteristics of retinoblastoma, following the rules of the TNM AJCC v7 classification system as they pertain to staging of regional lymph nodes.|NCI|N|
C2982250|Retinoblastoma in which the regional lymph nodes cannot be assessed. (from AJCC 7th Ed.)|NCI|N|
C2982251|Retinoblastoma with no regional lymph node involvement. (from AJCC 7th Ed.)|NCI|N|
C2982252|Retinoblastoma with regional lymph node involvement (preauricular, cervical, submandibular). (from AJCC 7th Ed.)|NCI|N|
C2982253|Retinoblastoma with distal lymph node involvement. (from AJCC 7th Ed.)|NCI|N|
C2982254|A clinical finding about one or more characteristics of retinoblastoma, following the rules of the TNM AJCC v7 classification system as they pertain to distant metastases.|NCI|N|
C2982255|Retinoblastoma with no metastasis. (from AJCC 7th Ed.)|NCI|N|
C2982256|Retinoblastoma with systemic metastasis. (from AJCC 7th Ed.)|NCI|N|
C2982257|Single lesion to sites other than CNS. (from AJCC 7th Ed.)|NCI|N|
C2982258|Multiple lesions to sites other than CNS. (from AJCC 7th Ed.)|NCI|N|
C2982259|Prechiasmatic CNS lesion(s). (from AJCC 7th Ed.)|NCI|N|
C2982260|Postchiasmatic CNS lesion(s). (from AJCC 7th Ed.)|NCI|N|
C2982261|Leptomeningeal and/or CSF involvement. (from AJCC 7th Ed.)|NCI|N|
C2982262|A finding about one or more characteristics of carcinoma of the lacrimal gland, following the rules of the TNM AJCC v7 classification system. No stage grouping is presently recommended for carcinoma of the lacrimal gland. (from AJCC 7th Ed.)|NCI|N|
C2982263|A pathologic finding about one or more characteristics of carcinoma of the lacrimal gland, following the rules of the TNM AJCC v7 classification system. Complete resection of the mass is indicated. The specimen should be thoroughly sampled for evaluation of histologic type and grade of tumor, size, possible presence of a preexisting pleomorphic adenoma, and surgical margins (including the periosteum). (from AJCC 7th Ed.)|NCI|N|
C2982264|A pathologic finding about one or more characteristics of carcinoma of the lacrimal gland, following the rules of the TNM AJCC v7 classification system as they pertain to staging of the primary tumor.|NCI|N|
C2982265|Carcinoma of the lacrimal gland in which the primary tumor cannot be assessed. (from AJCC 7th Ed.)|NCI|N|
C2982266|Carcinoma of the lacrimal gland with no evidence of a primary tumor. (from AJCC 7th Ed.)|NCI|N|
C2982267|Carcinoma of the lacrimal gland with tumor measuring 2 cm or less in greatest dimension with or without extraglandular extension into the orbital soft tissue. (from AJCC 7th Ed.)|NCI|N|
C2982268|Carcinoma of the lacrimal gland with tumor measuring more than 2 cm but not more than 4 cm in greatest dimension. Note: As the maximum size of the lacrimal gland is 2 cm, T2 and greater tumors will usually extend into the orbital soft tissue. (from AJCC 7th Ed.)|NCI|N|
C2982269|Carcinoma of the lacrimal gland with tumor measuring more than 4 cm in greatest dimension. Note: As the maximum size of the lacrimal gland is 2 cm, T2 and greater tumors will usually extend into the orbital soft tissue. (from AJCC 7th Ed.)|NCI|N|
C2982270|Carcinoma of the lacrimal gland with tumor invading periosteum or orbital bone or adjacent structures. (from AJCC 7th Ed.)|NCI|N|
C2982271|Carcinoma of the lacrimal gland with tumor invading periosteum. (from AJCC 7th Ed.)|NCI|N|
C2982272|Carcinoma of the lacrimal gland with tumor invading orbital bone. (from AJCC 7th Ed.)|NCI|N|
C2982273|Carcinoma of the lacrimal gland with tumor invading adjacent structures (brain, sinus, pterygoid fossa, temporal fossa). (from AJCC 7th Ed.)|NCI|N|
C2982274|A pathologic finding about one or more characteristics of carcinoma of the lacrimal gland, following the rules of the TNM AJCC v7 classification system as they pertain to staging of regional lymph nodes.|NCI|N|
C2982275|Carcinoma of the lacrimal gland in which the regional lymph nodes cannot be assessed. (from AJCC 7th Ed.)|NCI|N|
C2982276|Carcinoma of the lacrimal gland with no regional lymph node metastasis. (from AJCC 7th Ed.)|NCI|N|
C2982277|Carcinoma of the lacrimal gland with regional lymph node metastasis. (from AJCC 7th Ed.)|NCI|N|
C2982278|A pathologic finding about one or more characteristics of carcinoma of the lacrimal gland, following the rules of the TNM AJCC v7 classification system as they pertain to distant metastases. There is no pathologic M0 for carcinoma of the lacrimal gland. (from AJCC 7th Ed.)|NCI|N|
C2982279|Carcinoma of the lacrimal gland with distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2982280|A clinical finding about one or more characteristics of carcinoma of the lacrimal gland, following the rules of the TNM AJCC v7 classification system.|NCI|N|
C2982281|A clinical finding about one or more characteristics of carcinoma of the lacrimal gland, following the rules of the TNM AJCC v7 classification system as they pertain to distant metastases.|NCI|N|
C2982282|Carcinoma of the lacrimal gland without evidence of distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2982283|Carcinoma of the lacrimal gland with distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2982284|A finding about one or more characteristics of sarcoma of the orbit, following the rules of the TNM AJCC v7 classification system. No stage grouping is presently recommended for sarcoma of the orbit. (from AJCC 7th Ed.)|NCI|N|
C2982285|A pathologic finding about one or more characteristics of sarcoma of the orbit, following the rules of the TNM AJCC v7 classification system. The nature of the histopathology specimen (fine-needle aspiration biopsy, excisional biopsy, lumpectomy, or total excision) should be noted. Pathologic classification is based on the specific histopathology of the tumor, its differentiation (grade), and the extent of removal (evaluation of the excisional margins). In total excision specimens, evaluation of the surgical margins is mandatory. (from AJCC 7th Ed.)|NCI|N|
C2982286|A pathologic finding about one or more characteristics of sarcoma of the orbit, following the rules of the TNM AJCC v7 classification system as they pertain to staging of the primary tumor.|NCI|N|
C2982287|Sarcoma of the orbit in which the primary tumor cannot be assessed. (from AJCC 7th Ed.)|NCI|N|
C2982288|Sarcoma of the orbit with no evidence of a primary tumor. (from AJCC 7th Ed.)|NCI|N|
C2982289|Sarcoma of the orbit with tumor measuring 15 mm or less in greatest dimension. (from AJCC 7th Ed.)|NCI|N|
C2982290|Sarcoma of the orbit with tumor measuring more than 15 mm in greatest dimension without invasion of globe or bony wall. (from AJCC 7th Ed.)|NCI|N|
C2982291|Sarcoma of the orbit with tumor of any size with invasion of orbital tissues and/or bony walls. (from AJCC 7th Ed.)|NCI|N|
C2982292|Sarcoma of the orbit with tumor invasion of globe or periorbital structure, such as eyelids, temporal fossa, nasal cavity and paranasal sinuses, and/or central nervous system. (from AJCC 7th Ed.)|NCI|N|
C2982293|A pathologic finding about one or more characteristics of sarcoma of the orbit, following the rules of the TNM AJCC v7 classification system as they pertain to staging of regional lymph nodes.|NCI|N|
C2982294|Sarcoma of the orbit in which the regional lymph nodes cannot be assessed. (from AJCC 7th Ed.)|NCI|N|
C2982295|Sarcoma of the orbit with no regional lymph node metastasis. (from AJCC 7th Ed.)|NCI|N|
C2982296|Sarcoma of the orbit with regional lymph node metastasis. (from AJCC 7th Ed.)|NCI|N|
C2982297|A pathologic finding about one or more characteristics of sarcoma of the orbit, following the rules of the TNM AJCC v7 classification system as they pertain to distant metastases. There is no pathologic M0 for sarcoma of the orbit. (from AJCC 7th Ed.)|NCI|N|
C2982298|Sarcoma of the orbit with distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2982299|A clinical finding about one or more characteristics of sarcoma of the orbit, following the rules of the TNM AJCC v7 classification system. Clinical classification should be based on the symptoms and signs related to loss of vision and visual field, degree of global displacement and loss of extraocular motility, and degree of compressive optic neuropathy. Diagnostic tests should include perimetry, ultrasonography, computed tomography, magnetic resonance imaging, and other imaging procedures when indicated. (from AJCC 7th Ed.)|NCI|N|
C2982300|A clinical finding about one or more characteristics of sarcoma of the orbit, following the rules of the TNM AJCC v7 classification system as they pertain to distant metastases.|NCI|N|
C2982301|Sarcoma of the orbit without evidence of distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2982302|Sarcoma of the orbit with distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2982303|A finding about one or more characteristics of ocular adnexal lymphoma, following the rules of the TNM AJCC v7 classification system. No stage grouping is presently recommended for ocular adnexal lymphoma. (from AJCC 7th Ed.)|NCI|N|
C2982304|A pathologic finding about one or more characteristics of ocular adnexal lymphoma, following the rules of the TNM AJCC v7 classification system.|NCI|N|
C2982305|A pathologic finding about one or more characteristics of ocular adnexal lymphoma, following the rules of the TNM AJCC v7 classification system as they pertain to staging of the primary tumor.|NCI|N|
C2982306|Lymphoma extent is not specified. (from AJCC 7th Ed.)|NCI|N|
C2982307|No evidence of lymphoma. (from AJCC 7th Ed.)|NCI|N|
C2982308|Lymphoma involving the conjunctiva alone without orbital involvement. (from AJCC 7th Ed.)|NCI|N|
C2982309|Bulbar conjunctiva only. (from AJCC 7th Ed.)|NCI|N|
C2982310|Palpebral conjunctiva +/- fornix +/- caruncle. (from AJCC 7th Ed.)|NCI|N|
C2982311|Extensive conjunctival involvement. (from AJCC 7th Ed.)|NCI|N|
C2982312|Lymphoma with orbital involvement +/- any conjunctival involvement. (from AJCC 7th Ed.)|NCI|N|
C2982313|Anterior orbital involvement (+/- conjunctival involvement). (from AJCC 7th Ed.)|NCI|N|
C2982314|Anterior orbital involvement (+/- conjunctival involvement + lacrimal involvement). (from AJCC 7th Ed.)|NCI|N|
C2982315|Posterior orbital involvement (+/- conjunctival involvement +/- anterior involvement and +/- any extraocular muscle involvement). (from AJCC 7th Ed.)|NCI|N|
C2982316|Nasolacrimal drainage system involvement (+/- conjunctival involvement but not including nasopharynx). (from AJCC 7th Ed.)|NCI|N|
C2982317|Lymphoma with preseptal eyelid involvement +/- orbital involvement +/- any conjunctival involvement. Note: Preseptal tissues include dermis and orbicularis muscle of the anterior eyelid skin. (from AJCC 7th Ed.)|NCI|N|
C2982318|Orbital adnexal lymphoma extending beyond orbit to adjacent structures such as bone and brain. (from AJCC 7th Ed.)|NCI|N|
C2982319|Involvement of nasopharynx. (from AJCC 7th Ed.)|NCI|N|
C2982320|Osseous involvement (including periosteum). (from AJCC 7th Ed.)|NCI|N|
C2982321|Involvement of maxillofacial, ethmoidal, and/or frontal sinuses. (from AJCC 7th Ed.)|NCI|N|
C2982322|Intracranial spread. (from AJCC 7th Ed.)|NCI|N|
C2982323|A pathologic finding about one or more characteristics of ocular adnexal lymphoma, following the rules of the TNM AJCC v7 classification system as they pertain to staging of regional lymph nodes.|NCI|N|
C2982324|Involvement of lymph nodes not assessed. (from AJCC 7th Ed.)|NCI|N|
C2982325|No evidence of lymph node involvement. (from AJCC 7th Ed.)|NCI|N|
C2982326|Involvement of ipsilateral regional lymph nodes. Note: The regional lymph nodes include preauricular (parotid), submandibular, and cervical. (from AJCC 7th Ed.)|NCI|N|
C2982327|Involvement of contralateral or bilateral regional lymph nodes. Note: The regional lymph nodes include preauricular (parotid), submandibular, and cervical. (from AJCC 7th Ed.)|NCI|N|
C2982328|Involvement of peripheral lymph nodes not draining ocular adnexal region. (from AJCC 7th Ed.)|NCI|N|
C2982329|Involvement of central lymph nodes. (from AJCC 7th Ed.)|NCI|N|
C2982330|A pathologic finding about one or more characteristics of ocular adnexal lymphoma, following the rules of the TNM AJCC v7 classification system as they pertain to distant metastases. There is no pathologic M0 for ocular adnexal lymphoma. (from AJCC 7th Ed.)|NCI|N|
C2982331|Noncontiguous involvement of tissues or organs external to the ocular adnexa (e.g., parotid gland, submandibular gland, lung, liver, spleen, kidney, breast, etc.). (from AJCC 7th Ed.)|NCI|N|
C2982332|Lymphomatous involvement of the bone marrow. (from AJCC 7th Ed.)|NCI|N|
C2982333|Both M1a and M1b involvement. (from AJCC 7th Ed.)|NCI|N|
C2982334|A clinical finding about one or more characteristics of ocular adnexal lymphoma, following the rules of the TNM AJCC v7 classification system.|NCI|N|
C2982335|A clinical finding about one or more characteristics of ocular adnexal lymphoma, following the rules of the TNM AJCC v7 classification system as they pertain to distant metastases.|NCI|N|
C2982336|Ocular adnexal lymphoma with no evidence of involvement of other extranodal sites. (from AJCC 7th Ed.)|NCI|N|
C2982337|Noncontiguous involvement of tissues or organs external to the ocular adnexa (e.g., parotid gland, submandibular gland, lung, liver, spleen, kidney, breast, etc.). (from AJCC 7th Ed.)|NCI|N|
C2982338|Lymphomatous involvement of the bone marrow. (from AJCC 7th Ed.)|NCI|N|
C2982339|Both M1a and M1b involvement. (from AJCC 7th Ed.)|NCI|N|
C2982340|A finding about one or more characteristics of thoracic cancer, following the rules of the TNM AJCC v7 classification system. This classification is used for lung cancer and pleural mesothelioma. (from AJCC 7th Ed.)|NCI|N|
C2982341|A finding about one or more characteristics of lung cancer, following the rules of the TNM AJCC v7 classification system. This classification is used for both non-small cell and small cell lung carcinomas and for carcinoid tumors of the lung. Sarcomas and other rare tumors of the lung are not included. (from AJCC 7th Ed.)|NCI|N|
C2982342|A pathologic finding about one or more characteristics of lung cancer, following the rules of the TNM AJCC v7 classification system. The pathologic classification uses the evidence acquired before treatment, supplemented or modified by the additional evidence acquired during and after surgery, particularly from pathologic examination. (from AJCC 7th Ed.)|NCI|N|
C2982343|A pathologic finding about one or more characteristics of lung cancer, following the rules of the TNM AJCC v7 classification system as they pertain to staging of the primary tumor.|NCI|N|
C2982344|Lung cancer with a tumor size of 3 cm or less in greatest dimension, surrounded by lung or visceral pleura and without bronchoscopic evidence of invasion more proximal than the lobar bronchus (i.e., not in the main bronchus). The uncommon superficial tumor of any size with its invasive component limited to the bronchial wall, which may extend proximal to the main bronchus, is also classified as T1a. (from AJCC 7th Ed.)|NCI|N|
C2982345|Lung cancer with a tumor size of 2 cm or less in greatest dimension, surrounded by lung or visceral pleura and without bronchoscopic evidence of invasion more proximal than the lobar bronchus (i.e., not in the main bronchus). The uncommon superficial tumor of any size with its invasive component limited to the bronchial wall, which may extend proximal to the main bronchus, is also classified as T1a. (from AJCC 7th Ed.)|NCI|N|
C2982346|Lung cancer with a tumor size more than 2 cm but 3 cm or less in greatest dimension, surrounded by lung or visceral pleura and without bronchoscopic evidence of invasion more proximal than the lobar bronchus (i.e., not in the main bronchus). The uncommon superficial tumor of any size with its invasive component limited to the bronchial wall, which may extend proximal to the main bronchus, is also classified as T1a. (from AJCC 7th Ed.)|NCI|N|
C2982347|Lung cancer with a tumor size more than 3 cm but 7 cm or less or tumor with any of the following features (T2 tumors with these features are classified T2a if 5 cm or less): Involves main bronchus, 2 cm or more distal to the carina; Invades visceral pleura (PL1 or PL2); Associated with atelectasis or obstructive pneumonitis that extends to the hilar region but does not involve the entire lung. (from AJCC 7th Ed.)|NCI|N|
C2982348|Lung cancer with a tumor size more than 3 cm but 5 cm or less in greatest dimension. (from AJCC 7th Ed.)|NCI|N|
C2982349|Lung cancer with a tumor size more than 5 cm but 7 cm or less in greatest dimension. (from AJCC 7th Ed.)|NCI|N|
C2982350|Lung cancer with a tumor size more than 7 cm or one that directly invades any of the following: parietal pleural (PL3) chest wall (including superior sulcus tumors), diaphragm, phrenic nerve, mediastinal pleura, parietal pericardium; or tumor in the main bronchus (less than 2 cm distal to the carina but without involvement of the carina); or associated atelectasis or obstructive pneumonitis of the entire lung or separate tumor nodule(s) in the same lobe. (from AJCC 7th Ed.)|NCI|N|
C2982351|Lung cancer with a tumor of any size that invades any of the following: mediastinum, heart, great vessels, trachea, recurrent laryngeal nerve, esophagus, vertebral body, carina, and separate tumor nodule(s) in a different ipsilateral lobe. (from AJCC 7th Ed.)|NCI|N|
C2982352|A pathologic finding about one or more characteristics of lung cancer, following the rules of the TNM AJCC v7 classification system as they pertain to staging of regional lymph nodes.|NCI|N|
C2982353|Lung cancer with metastasis in ipsilateral peribronchial and/or ipsilateral hilar lymph nodes and intrapulmonary lymph nodes, including involvement by direct extension. (from AJCC 7th Ed.)|NCI|N|
C2982354|A pathologic finding about one or more characteristics of lung cancer, following the rules of the TNM AJCC v7 classification system as they pertain to distant metastases. There is no pathologic M0 for lung cancer. (from AJCC 7th Ed.)|NCI|N|
C2982355|Lung cancer with distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2982356|Lung cancer with separate tumor nodule(s) in a contralateral lobe; tumor with pleural nodules or malignant pleural (or pericardial) effusion. Most pleural (and pericardial) effusions with lung cancer are due to tumor. In a few patients, however, multiple cytopathologic examinations of pleural (or pericardial) fluid) are negative for tumor, and the fluid is nonbloody and is not an exudate. Where these elements and clinical judgment dictate that the effusion is not related to the tumor, the effusion should be excluded as a staging element and the patient should be classified as M0. (from AJCC 7th Ed.)|NCI|N|
C2982357|Distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2982358|A clinical finding about one or more characteristics of lung cancer, following the rules of the TNM AJCC v7 classification system. The clinical classification is based on the evidence acquired before treatment, including physical examination, imaging studies, laboratory tests, and staging procedures such as bronchoscopy or esophagoscopy with ultrasound directed biopsies, mediastinoscopy, mediastinotomy, thoracentesis, and thoracoscopy as well as exploratory thoracotomy. (from AJCC 7th Ed.)|NCI|N|
C2982359|A clinical finding about one or more characteristics of lung cancer, following the rules of the TNM AJCC v7 classification system as they pertain to distant metastases.|NCI|N|
C2982360|Lung cancer without evidence of distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2982361|Lung cancer with distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2982362|Lung cancer with separate tumor nodule(s) in a contralateral lobe; tumor with pleural nodules or malignant pleural (or pericardial) effusion. Most pleural (and pericardial) effusions with lung cancer are due to tumor. In a few patients, however, multiple cytopathologic examinations of pleural (or pericardial) fluid) are negative for tumor, and the fluid is nonbloody and is not an exudate. Where these elements and clinical judgment dictate that the effusion is not related to the tumor, the effusion should be excluded as a staging element and the patient should be classified as M0. (from AJCC 7th Ed.)|NCI|N|
C2982363|Distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2982366|A finding about one or more characteristics of pleural mesothelioma, following the rules of the TNM AJCC v7 classification system. The staging system used in the AJCC 7th edition represents an adoption of the system proposed in 1995 by the International Mesothelioma Interest Group (IMIG), which was based on updated information about the relationship between tumor T and N status and overall survival. (from AJCC 7th Ed.)|NCI|N|
C2982367|A pathologic finding about one or more characteristics of pleural mesothelioma, following the rules of the TNM AJCC v7 classification system. The pathologic staging is based on surgical resection. (from AJCC 7th Ed.)|NCI|N|
C2982368|A pathologic finding about one or more characteristics of pleural mesothelioma, following the rules of the TNM AJCC v7 classification system as they pertain to staging of the primary tumor.|NCI|N|
C2982369|Pleural mesothelioma in which the primary tumor cannot be assessed. (from AJCC 7th Ed.)|NCI|N|
C2982370|Pleural mesothelioma without evidence of primary tumor. (from AJCC 7th Ed.)|NCI|N|
C2982371|Pleural mesothelioma with a tumor limited to the ipsilateral parietal pleura with or without mediastinal pleura and with or without diaphragmatic pleural involvement. (from AJCC 7th Ed.)|NCI|N|
C2982372|Pleural mesothelioma with no involvement of the visceral pleura. (from AJCC 7th Ed.)|NCI|N|
C2982373|Pleural mesothelioma with a tumor also involving the visceral pleura. (from AJCC 7th Ed.)|NCI|N|
C2982374|Pleural mesothelioma with a tumor involving each of the ipsilateral pleural surfaces (parietal, mediastinal, diaphragmatic, and visceral pleura) with at least one of the following: involvement of diaphragmatic muscle; extension of tumor from visceral pleura into the underlying pulmonary parenchyma. (from AJCC 7th Ed.)|NCI|N|
C2982375|Pleural mesothelioma with a locally advanced but potentially respectable tumor. Tumor involving all the ipsilateral pleural surfaces (parietal, mediastinal, diaphragmatic, and visceral pleura) with at least one of the following: involvement of the endothoracic fascia; extension into the mediastinal fat; solitary, completely respectable focus of tumor extending into the soft tissues of the chest wall; nontransmural involvement of the pericardium. (from AJCC 7th Ed.)|NCI|N|
C2982376|Pleural mesothelioma with a locally advanced technically unresectable tumor. Tumor involving all the ipsilateral pleural surfaces (parietal, mediastinal, diaphragmatic, and visceral pleura) with at least one of the following: diffuse extension or multifocal masses of tumor in the chest wall, with or without associated rib destruction; direct transdiaphragmatic extension of tumor to the peritoneum; direct extension of tumor to the contralateral pleura; direct extension of tumor to mediastinal organs; direct extension of tumor into the spine; tumor extending through to the internal surface of the pericardium with or without a pericardial effusion or tumor involving the myocardium. (from AJCC 7th Ed.)|NCI|N|
C2982377|A pathologic finding about one or more characteristics of pleural mesothelioma, following the rules of the TNM classification system as they pertain to staging of regional lymph nodes.|NCI|N|
C2982378|Pleural mesothelioma in which regional lymph nodes cannot be assessed. (from AJCC 7th Ed.)|NCI|N|
C2982379|Pleural mesothelioma with no regional lymph nodes metastases. (from AJCC 7th Ed.)|NCI|N|
C2982380|Pleural mesothelioma with metastases in the ipsilateral bronchopulmonary or hilar lymph nodes. (from AJCC 7th Ed.)|NCI|N|
C2982381|Pleural mesothelioma with metastases in the subcarinal or the ipsilateral mediastinal lymph nodes including the ipsilateral internal mammary and peridiaphragmatic nodes. (from AJCC 7th Ed.)|NCI|N|
C2982382|Pleural mesothelioma with metastases in the contralateral mediastinal, contralateral internal mammary, ipsilateral or contralateral supraclavicular lymph nodes. (from AJCC 7th Ed.)|NCI|N|
C2982383|A pathologic finding about one or more characteristics of pleural mesothelioma, following the rules of the TNM AJCC v7 classification system as they pertain to distant metastases. There is no pathologic M0 for pleural mesothelioma.|NCI|N|
C2982384|Pleural mesothelioma with distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2982385|A clinical finding about one or more characteristics of pleural mesothelioma, following the rules of the TNM AJCC v7 classification system. The clinical staging depends on imaging most frequently computed tomography (CT) and more recently FDG positron emission tomography (FDG-PET) scanning. (from AJCC 7th Ed.)|NCI|N|
C2982386|A clinical finding about one or more characteristics of pleural mesothelioma, following the rules of the TNM AJCC v7 classification system as they pertain to distant metastases.|NCI|N|
C2982387|Pleural mesothelioma without evidence of distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2982388|Pleural mesothelioma with distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2982401|A finding about one or more characteristics of head and neck cancer, following the rules of the TNM AJCC v7 classification system.|NCI|N|
C2982402|A finding about one or more characteristics of lip and oral cavity cancer, following the rules of the TNM AJCC v7 classification system. Nonepithelial tumors such as those of lymphoid tissue, soft tissue, bone, and cartilage are not included in this classification. (from AJCC 7th Ed.)|NCI|N|
C2982403|A pathologic finding about one or more characteristics of lip and oral cavity cancer, following the rules of the TNM AJCC v7 classification system. The pathologic staging is determined after the complete resection of the primary site and/or regional nodal dissection, followed by pathologic examination of the resected specimen(s). (from AJCC 7th Ed.)|NCI|N|
C2982404|A pathologic finding about one or more characteristics of lip and oral cavity cancer, following the rules of the TNM AJCC v7 classification system as they pertain to staging of the primary tumor.|NCI|N|
C2982409|Lip and oral cavity cancer with moderately advanced local disease. Lip: Tumor invades through cortical bone, inferior alveolar nerve, floor of mouth, or skin of face, i.e., chin or nose. Oral cavity: Tumor invades adjacent structures only (e.g., through cortical bone [mandible or maxilla] into deep [extrinsic] muscle of tongue [genioglossus, hyoglossus, palatoglossus, and styloglossus], maxillary sinus, skin of face). (from AJCC 7th Ed.)|NCI|N|
C2982410|Lip and oral cavity cancer with very advanced local disease. Tumor invades masticator space, pterygoid plates, or skull base and/or encases internal carotid artery. (from AJCC 7th Ed.)|NCI|N|
C2982411|A pathologic finding about one or more characteristics of lip and oral cavity cancer, following the rules of the TNM AJCC v7 classification system as they pertain to staging of regional lymph nodes.|NCI|N|
C2982412|Lip and oral cavity cancer with metastasis in a single ipsilateral lymph node, more than 3 cm but not more than 6 cm in greatest dimension; or in multiple ipsilateral lymph nodes, none more than 6 cm in greatest dimension; or in bilateral or contralateral lymph nodes, none more than 6 cm in greatest dimension. (from AJCC 7th Ed.)|NCI|N|
C2982414|A pathologic finding about one or more characteristics of lip and oral cavity cancer, following the rules of the TNM AJCC v7 classification system as they pertain to distant metastases. There is no pathologic M0 for lip and oral cavity cancer.|NCI|N|
C2982415|A clinical finding about one or more characteristics of lip and oral cavity cancer, following the rules of the TNM AJCC v7 classification system. The assessment of the primary tumor is based on inspection and palpation of the oral cavity and neck. Additional studies may include CT, MRI, or ultrasound. (from AJCC 7th Ed.)|NCI|N|
C2982416|A clinical finding about one or more characteristics of lip and oral cavity cancer, following the rules of the TNM AJCC v7 classification system as they pertain to distant metastases.|NCI|N|
C2982417|Lip and oral cavity cancer without evidence of distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2982418|Lip and oral cavity cancer with distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2982419|A finding about one or more characteristics of pharyngeal cancer, following the rules of the TNM AJCC v7 classification system. Nonepithelial tumors such as those of lymphoid tissue, soft tissue, bone, and cartilage are not included in this classification. (from AJCC 7th Ed.)|NCI|N|
C2982420|A finding about one or more characteristics of nasopharyngeal cancer, following the rules of the TNM AJCC v7 classification system.|NCI|N|
C2982421|A pathologic finding about one or more characteristics of nasopharyngeal cancer, following the rules of the TNM AJCC v7 classification system. The pathologic staging requires the use of all information obtained in clinical staging and in histologic study of the surgically resected specimens. (from AJCC 7th Ed.)|NCI|N|
C2982422|A pathologic finding about one or more characteristics of nasopharyngeal cancer, following the rules of the TNM AJCC v7 classification system as they pertain to staging of the primary tumor.|NCI|N|
C2982423|Nasopharyngeal cancer with tumor confined to the nasopharynx, or tumor extending to oropharynx and/or nasal cavity without parapharyngeal extension. Parapharyngeal extension denotes posterolateral infiltration of tumor. (from AJCC 7th Ed.)|NCI|N|
C2982424|Nasopharyngeal cancer with parapharyngeal extension. Parapharyngeal extension denotes posterolateral infiltration of tumor. (from AJCC 7th Ed.)|NCI|N|
C2982425|Nasopharyngeal cancer with tumor involving bony structures of skull base and/or paranasal sinuses. (from AJCC 7th Ed.)|NCI|N|
C2982426|Nasopharyngeal cancer with intracranial extension and/or involvement of cranial nerves, hypopharynx, orbit, or with extension to the infratemporal fossa/masticator space. (from AJCC 7th Ed.)|NCI|N|
C2982427|A pathologic finding about one or more characteristics of nasopharyngeal cancer, following the rules of the TNM AJCC v7 classification system as they pertain to staging of regional lymph nodes. The distribution and the prognostic impact of regional lymph node spread from nasopharynx cancer, particularly of the undifferentiated type, are different from those of other head and neck mucosal cancers and justify the use of a different N classification scheme. (from AJCC 7th Ed.)|NCI|N|
C2982428|Nasopharyngeal cancer with unilateral metastasis in cervical lymph node(s), 6 cm or less in greatest dimension, above the supraclavicular fossa, and/or unilateral or bilateral, retropharyngeal lymph nodes, 6 cm or less in greatest dimension. Midline nodes are considered ipsilateral nodes. (from AJCC 7th Ed.)|NCI|N|
C2982429|Nasopharyngeal cancer with bilateral metastasis in cervical lymph node(s), 6 cm or less in greatest dimension, above the supraclavicular fossa. Midline nodes are considered ipsilateral nodes. (from AJCC 7th Ed.)|NCI|N|
C2982430|Nasopharyngeal cancer with metastasis in a lymph node (s) more than 6 cm in greatest dimension and/or to supraclavicular fossa. Supraclavicular zone or fossa is relevant to the staging of nasopharyngeal carcinoma and is the triangular region originally described by Ho. It is defined by three points: (1) the superior margin of the sternal end of the clavicle, (2) the superior margin of the lateral end of the clavicle, (3) the point where the neck meets the shoulder. This would include caudal portions of levels IV and VB. All cases with lymph nodes (whole or part) in the fossa are considered N3b. (from AJCC 7th Ed.)|NCI|N|
C2982431|Nasopharyngeal cancer with extension to the supraclavicular fossa. Supraclavicular zone or fossa is relevant to the staging of nasopharyngeal carcinoma and is the triangular region originally described by Ho. It is defined by three points: (1) the superior margin of the sternal end of the clavicle, (2) the superior margin of the lateral end of the clavicle, (3) the point where the neck meets the shoulder. This would include caudal portions of levels IV and VB. All cases with lymph nodes (whole or part) in the fossa are considered N3b. (from AJCC 7th Ed.)|NCI|N|
C2982432|A pathologic finding about one or more characteristics of nasopharyngeal cancer, following the rules of the TNM AJCC v7 classification system as they pertain to distant metastases. There is no pathologic M0 for nasopharyngeal cancer.|NCI|N|
C2982433|A clinical finding about one or more characteristics of nasopharyngeal cancer, following the rules of the TNM AJCC v7 classification system. The assessment is based primarily on inspection and on indirect and direct endoscopy. Palpation of sites (when feasible) and of neck nodes is essential. Neurologic evaluation of all cranial nerves is required. Imaging studies are essential in clinical staging of pharynx tumors. (from AJCC 7th Ed.)|NCI|N|
C2982434|A clinical finding about one or more characteristics of nasopharyngeal cancer, following the rules of the TNM AJCC v7 classification system as they pertain to distant metastases.|NCI|N|
C2982435|Nasopharyngeal cancer without evidence of distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2982436|Nasopharyngeal cancer with distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2982437|Stage II includes: (T1, N1, M0); (T2, N0, M0); (T2, N1, M0). T1: Nasopharyngeal cancer with tumor confined to the nasopharynx, or tumor extending to oropharynx and/or nasal cavity without parapharyngeal extension. Parapharyngeal extension denotes posterolateral infiltration of tumor. T2: Nasopharyngeal cancer with parapharyngeal extension. Parapharyngeal extension denotes posterolateral infiltration of tumor. N0: No regional lymph node metastasis. N1: Nasopharyngeal cancer with unilateral metastasis in cervical lymph node(s), 6 cm or less in greatest dimension, above the supraclavicular fossa, and/or unilateral or bilateral, retropharyngeal lymph nodes, 6 cm or less in greatest dimension. Midline nodes are considered ipsilateral nodes. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C2982444|A finding about one or more characteristics of oropharyngeal cancer, following the rules of the TNM AJCC v7 classification system.|NCI|N|
C2982445|A pathologic finding about one or more characteristics of oropharyngeal cancer, following the rules of the TNM AJCC v7 classification system. The pathologic staging requires the use of all information obtained in clinical staging and in histologic study of the surgically resected specimens. (from AJCC 7th Ed.)|NCI|N|
C2982446|A pathologic finding about one or more characteristics of oropharyngeal cancer, following the rules of the TNM AJCC v7 classification system as they pertain to staging of the primary tumor.|NCI|N|
C2982449|Oropharyngeal cancer with tumor size more than 4 centimeters in greatest dimension or extension to lingual surface of epiglottis. (from AJCC 7th Ed.)|NCI|N|
C2982450|Oropharyngeal cancer with moderately advanced local disease. Tumor invades the larynx, extrinsic muscle of tongue, medial pterygoid, hard palate, or mandible. Mucosal extension to lingual surface of epiglottis from primary tumors of the base of the tongue and vallecula does not constitute invasion of larynx. (from AJCC 7th Ed.)|NCI|N|
C2982451|Oropharyngeal cancer with very advanced local disease. Tumor invades lateral pterygoid muscle, pterygoid plates, lateral nasopharynx, or skull base or encases carotid artery. (from AJCC 7th Ed.)|NCI|N|
C2982452|A pathologic finding about one or more characteristics of oropharyngeal cancer, following the rules of the TNM AJCC v7 classification system as they pertain to staging of regional lymph nodes. Metastases at level VII are considered regional lymph node metastases. (from AJCC 7th Ed.)|NCI|N|
C2982454|Oropharyngeal cancer with metastasis in a single ipsilateral lymph node, more than 3 cm but not more than 6 cm in greatest dimension, or in multiple ipsilateral lymph nodes, none more than 6 cm in greatest dimension, or in bilateral or contralateral lymph nodes, none more than 6 cm in greatest dimension. (from AJCC 7th Ed.)|NCI|N|
C2982455|Oropharyngeal cancer with metastasis in a lymph node more than 6 cm in greatest dimension. (from AJCC 7th Ed.)|NCI|N|
C2982456|A pathologic finding about one or more characteristics of oropharyngeal cancer, following the rules of the TNM AJCC v7 classification system as they pertain to distant metastases. There is no pathologic M0 for oropharyngeal cancer.|NCI|N|
C2982457|A clinical finding about one or more characteristics of oropharyngeal cancer, following the rules of the TNM AJCC v7 classification system.|NCI|N|
C2982458|A clinical finding about one or more characteristics of oropharyngeal cancer, following the rules of the TNM AJCC v7 classification system as they pertain to distant metastases.|NCI|N|
C2982459|Oropharyngeal cancer without evidence of distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2982460|Oropharyngeal cancer with distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2982461|Stage III includes: (T3, N0, M0); (T1, N1, M0); (T2, N1, M0); (T3, N1, M0). T1: Tumor 2 cm or less in greatest dimension. T2: Tumor more than 2 cm but not more than 4 cm in greatest dimension. T3: Tumor measuring more than 4 centimeters in greatest dimension or extension to lingual surface of epiglottis. N0: No regional lymph node metastasis. N1: Metastasis in a single ipsilateral lymph node, 3 cm or less in greatest dimension. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C2982464|A finding about one or more characteristics of hypopharyngeal cancer, following the rules of the TNM AJCC v7 classification system.|NCI|N|
C2982465|A pathologic finding about one or more characteristics of hypopharyngeal cancer, following the rules of the TNM AJCC v7 classification system. The pathologic staging requires the use of all information obtained in clinical staging and in histologic study of the surgically resected specimens. (from AJCC 7th Ed.)|NCI|N|
C2982467|A pathologic finding about one or more characteristics of hypopharyngeal cancer, following the rules of the TNM AJCC v7 classification system as they pertain to staging of the primary tumor.|NCI|N|
C2982468|Hypopharyngeal cancer with tumor limited to one subsite of hypopharynx and/or 2 cm or less in greatest dimension. (from AJCC 7th Ed.)|NCI|N|
C2982469|Hypopharyngeal cancer with tumor measuring more than 4 cm in greatest dimension or with fixation of hemilarynx or extension to esophagus. (from AJCC 7th Ed.)|NCI|N|
C2982470|Hypopharyngeal cancer with moderately advanced local disease. Tumor invades the thyroid/cricoid cartilage, hyoid bone, thyroid gland, or central compartment soft tissue. Central compartment soft tissue includes prelaryngeal strap muscles and subcutaneous fat. (from AJCC 7th Ed.)|NCI|N|
C2982471|Hypopharyngeal cancer with very advanced local disease. Tumor invades prevertebral fascia, encases carotid artery, or involves mediastinal structures. (from AJCC 7th Ed.)|NCI|N|
C2982472|A pathologic finding about one or more characteristics of hypopharyngeal cancer, following the rules of the TNM AJCC v7 classification system as they pertain to staging of regional lymph nodes. Metastases at level VII are considered regional lymph node metastases. (from AJCC 7th Ed.)|NCI|N|
C2982473|Hypopharyngeal cancer with metastasis in a single ipsilateral lymph node, more than 3 cm but not more than 6 cm in greatest dimension, or in multiple ipsilateral lymph nodes, none more than 6 cm in greatest dimension, or in bilateral or contralateral lymph nodes, none more than 6 cm in greatest dimension. (from AJCC 7th Ed.)|NCI|N|
C2982474|Hypopharyngeal cancer with metastasis in a lymph node more than 6 cm in greatest dimension. (from AJCC 7th Ed.)|NCI|N|
C2982475|A pathologic finding about one or more characteristics of hypopharyngeal cancer, following the rules of the TNM AJCC v7 classification system as they pertain to distant metastases. There is no pathologic M0 for hypopharyngeal cancer.|NCI|N|
C2982476|A clinical finding about one or more characteristics of hypopharyngeal cancer, following the rules of the TNM AJCC v7 classification system.|NCI|N|
C2982477|A clinical finding about one or more characteristics of hypopharyngeal cancer, following the rules of the TNM AJCC v7 classification system as they pertain to distant metastases.|NCI|N|
C2982478|Hypopharyngeal cancer without evidence of distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2982479|Hypopharyngeal cancer with distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2982480|Stage III includes: (T3, N0, M0); (T1, N1, M0); (T2, N1, M0); (T3, N1, M0). T3: Tumor measuring more than 4 cm in greatest dimension or with fixation of hemilarynx or extension to esophagus. T1: Tumor limited to one subsite of hypopharynx and/or 2 cm or less in greatest dimension. T2: Tumor invades more than one subsite of the hypopharynx or an adjacent site, or measures more than 2 cm but not more than 4 cm in greatest diameter without fixation of hemilarynx. N0: No regional lymph node metastasis. N1: Metastasis in a single ipsilateral lymph node, 3 cm or less in greatest dimension. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C2982481|Stage IV includes: IVA: (T4a, N0, M0); (T4a, N1, M0); (T1, N2, M0); (T2, N2, M0); (T3, N2, M0); (T4a, N2, M0); IVB: (T4b, Any N, M0); (Any T, N3, M0); IVC: (Any T, Any N, M1). T4a: Tumor with moderately advanced local disease. Tumor invades the thyroid/cricoid cartilage, hyoid bone, thyroid gland, or central compartment soft tissue. Central compartment soft tissue includes prelaryngeal strap muscles and subcutaneous fat. T1: Tumor limited to one subsite of hypopharynx and/or 2 cm or less in greatest dimension. T2: Tumor invades more than one subsite of the hypopharynx or an adjacent site, or measures more than 2 cm but not more than 4 cm in greatest diameter without fixation of hemilarynx. T3: Tumor measuring more than 4 cm in greatest dimension or tumor with fixation of hemilarynx or extension to esophagus. T4b: Tumor with very advanced local disease. Tumor invades prevertebral fascia, encases carotid artery, or involves mediastinal structures. N0: No regional lymph node metastasis. N1: Metastasis in a single ipsilateral lymph node, 3 cm or less in greatest dimension. N2: Tumor with metastasis in a single ipsilateral lymph node, more than 3 cm but not more than 6 cm in greatest dimension, or in multiple ipsilateral lymph nodes, none more than 6 cm in greatest dimension, or in bilateral or contralateral lymph nodes, none more than 6 cm in greatest dimension. N3: Metastasis in a lymph node more than 6 cm in greatest dimension. M0: No distant metastasis. M1: Distant metastasis. (AJCC 7th ed.)|NCI|N|
C2982482|A finding about one or more characteristics of laryngeal cancer, following the rules of the TNM AJCC v7 classification system. Nonepithelial tumors such as those of lymphoid tissue, soft tissue, bone, and cartilage are not included in this classification. (from AJCC 7th Ed.)|NCI|N|
C2982483|A finding about one or more characteristics of supraglottic cancer, following the rules of the TNM AJCC v7 classification system.|NCI|N|
C2982485|A pathologic finding about one or more characteristics of supraglottic cancer, following the rules of the TNM AJCC v7 classification system. The pathologic staging requires the use of all information obtained in clinical staging and in histologic study of the surgically resected specimens. (from AJCC 7th Ed.)|NCI|N|
C2982486|A pathologic finding about one or more characteristics of supraglottic cancer, following the rules of the TNM AJCC v7 classification system as they pertain to staging of the primary tumor.|NCI|N|
C2982487|Supraglottic cancer with tumor limited to larynx with vocal cord fixation and/or invading any of the following: postcricoid area, preepiglottic space, paraglottic space, and/or inner cortex of thyroid cartilage. (from AJCC 7th Ed.)|NCI|N|
C2982488|Supraglottic cancer with moderately advanced local disease. Tumor invades through the thyroid cartilage and/or invades tissues beyond the larynx (e.g. trachea, soft tissues of neck including deep extrinsic muscle of the tongue, strap muscles, thyroid, or esophagus). (from AJCC 7th Ed.)|NCI|N|
C2982489|Supraglottic cancer with very advanced local disease. Tumor invades prevertebral space, encases carotid artery, or invades mediastinal structures. (from AJCC 7th Ed.)|NCI|N|
C2982490|A pathologic finding about one or more characteristics of supraglottic cancer, following the rules of the TNM AJCC v7 classification system as they pertain to staging of regional lymph nodes. Metastases at level VII are considered regional lymph node metastases. (from AJCC 7th Ed.)|NCI|N|
C2982491|Supraglottic cancer with metastasis in a single ipsilateral lymph node, more than 3 cm but not more than 6 cm in greatest dimension, or in multiple ipsilateral lymph nodes, none more than 6 cm in greatest dimension, or in bilateral or contralateral lymph nodes, none more than 6 cm in greatest dimension. (from AJCC 7th Ed.)|NCI|N|
C2982492|A pathologic finding about one or more characteristics of supraglottic cancer, following the rules of the TNM AJCC v7 classification system as they pertain to distant metastases. There is no pathologic M0 for supraglottic cancer.|NCI|N|
C2982493|A clinical finding about one or more characteristics of supraglottic cancer, following the rules of the TNM AJCC v7 classification system. The assessment is accomplished primarily by inspection, using indirect mirror and direct endoscopic examination with a fiberoptic nasolaryngoscope. The tumor must be confirmed histologically, and any other data obtained by biopsies may be included. (from AJCC 7th Ed.)|NCI|N|
C2982494|A clinical finding about one or more characteristics of supraglottic cancer, following the rules of the TNM AJCC v7 classification system as they pertain to distant metastases.|NCI|N|
C2982495|Supraglottic cancer without evidence of distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2982496|Supraglottic cancer with distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2982497|A finding about one or more characteristics of glottic cancer, following the rules of the TNM AJCC v7 classification system.|NCI|N|
C2982498|A pathologic finding about one or more characteristics of glottic cancer, following the rules of the TNM AJCC v7 classification system. The pathologic staging requires the use of all information obtained in clinical staging and in histologic study of the surgically resected specimens. (from AJCC 7th Ed.)|NCI|N|
C2982499|A pathologic finding about one or more characteristics of glottic cancer, following the rules of the TNM AJCC v7 classification system as they pertain to staging of the primary tumor.|NCI|N|
C2982500|Glottic cancer with tumor limited to the larynx with vocal cord fixation and /or invasion of paraglottic space, and/or inner cortex of the thyroid cartilage. (from AJCC 7th Ed.)|NCI|N|
C2982501|Glottic cancer with moderately advanced local disease. Tumor invades through the outer cortex of the thyroid cartilage and/or invades tissues beyond the larynx (e.g., trachea, soft tissues of neck including deep extrinsic muscle of the tongue, strap muscles, thyroid, or esophagus). (from AJCC 7th Ed.)|NCI|N|
C2982502|Glottic cancer with very advanced local disease. Tumor invades prevertebral space, encases carotid artery, or invades mediastinal structures. (from AJCC 7th Ed.)|NCI|N|
C2982503|A pathologic finding about one or more characteristics of glottic cancer, following the rules of the TNM AJCC v7 classification system as they pertain to staging of regional lymph nodes. Metastases at level VII are considered regional lymph node metastases. (from AJCC 7th Ed.)|NCI|N|
C2982504|Glottic cancer with metastasis in a single ipsilateral lymph node, more than 3 cm but not more than 6 cm in greatest dimension, or in multiple ipsilateral lymph nodes, none more than 6 cm in greatest dimension, or in bilateral or contralateral lymph nodes, none more than 6 cm in greatest dimension. (from AJCC 7th Ed.)|NCI|N|
C2982505|A pathologic finding about one or more characteristics of glottic cancer, following the rules of the TNM AJCC v7 classification system as they pertain to distant metastases. There is no pathologic M0 for glottic cancer.|NCI|N|
C2982506|A clinical finding about one or more characteristics of glottic cancer, following the rules of the TNM AJCC v7 classification system. The assessment is accomplished primarily by inspection, using indirect mirror and direct endoscopic examination with a fiberoptic nasolaryngoscope. The tumor must be confirmed histologically, and any other data obtained by biopsies may be included. (from AJCC 7th Ed.)|NCI|N|
C2982507|A clinical finding about one or more characteristics of glottic cancer, following the rules of the TNM AJCC v7 classification system as they pertain to distant metastases.|NCI|N|
C2982508|Glottic cancer without evidence of distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2982509|Glottic cancer with distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2982510|A finding about one or more characteristics of subglottic cancer, following the rules of the TNM AJCC v7 classification system.|NCI|N|
C2982511|A pathologic finding about one or more characteristics of subglottic cancer, following the rules of the TNM AJCC v7 classification system. The pathologic staging requires the use of all information obtained in clinical staging and in histologic study of the surgically resected specimens. (from AJCC 7th Ed.)|NCI|N|
C2982512|A pathologic finding about one or more characteristics of subglottic cancer, following the rules of the TNM AJCC v7 classification system as they pertain to staging of the primary tumor.|NCI|N|
C2982513|Subglottic cancer with moderately advanced local disease. Tumor invades cricoid or thyroid cartilage and/or invades tissues behind the larynx (e.g. trachea, soft tissues of neck including deep extrinsic muscles of the tongue, strap muscles, thyroid, or esophagus). (from AJCC 7th Ed.)|NCI|N|
C2982515|Subglottic cancer with very advanced local disease. Tumor invades prevertebral space, encases carotid artery, or invades mediastinal structures. (from AJCC 7th Ed.)|NCI|N|
C2982516|A pathologic finding about one or more characteristics of subglottic cancer, following the rules of the TNM AJCC v7 classification system as they pertain to staging of regional lymph nodes. Metastases at level VII are considered regional lymph node metastases. (from AJCC 7th Ed.)|NCI|N|
C2982517|Subglottic cancer with metastasis in a single ipsilateral lymph node, more than 3 cm but not more than 6 cm in greatest dimension, or in multiple ipsilateral lymph nodes, none more than 6 cm in greatest dimension, or in bilateral or contralateral lymph nodes, none more than 6 cm in greatest dimension. (from AJCC 7th Ed.)|NCI|N|
C2982518|A pathologic finding about one or more characteristics of subglottic cancer, following the rules of the TNM AJCC v7 classification system as they pertain to distant metastases. There is no pathologic M0 for subglottic cancer.|NCI|N|
C2982519|A clinical finding about one or more characteristics of subglottic cancer, following the rules of the TNM AJCC v7 classification system. The assessment is accomplished primarily by inspection, using indirect mirror and direct endoscopic examination with a fiberoptic nasolaryngoscope. The tumor must be confirmed histologically, and any other data obtained by biopsies may be included. (from AJCC 7th Ed.)|NCI|N|
C2982520|A clinical finding about one or more characteristics of subglottic cancer, following the rules of the TNM AJCC v7 classification system as they pertain to distant metastases.|NCI|N|
C2982521|Subglottic cancer without evidence of distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2982522|Subglottic cancer with distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2982523|A finding about one or more characteristics of nasal cavity and paranasal sinus cancer, following the rules of the TNM AJCC v7 classification system. Nonepithelial tumors such as those of lymphoid tissue, soft tissue, bone, and cartilage are not included in this classification. (from AJCC 7th Ed.)|NCI|N|
C2982524|A finding about one or more characteristics of maxillary sinus cancer, following the rules of the TNM AJCC v7 classification system.|NCI|N|
C2982525|A pathologic finding about one or more characteristics of maxillary sinus cancer, following the rules of the TNM AJCC v7 classification system. The pathologic staging requires the use of all information obtained in clinical staging and in histologic study of the surgically resected specimens. The surgeon''s evaluation of gross unresected residual tumor must also be included. (from AJCC 7th Ed.)|NCI|N|
C2982526|A pathologic finding about one or more characteristics of maxillary sinus cancer, following the rules of the TNM AJCC v7 classification system as they pertain to staging of the primary tumor.|NCI|N|
C2982527|Maxillary sinus cancer with moderately advanced local disease. Tumor invades anterior orbital contents, skin of cheek, pterygoid plates, infratemporal fossa, cribriform plate, sphenoid or frontal sinuses. (from AJCC 7th Ed.)|NCI|N|
C2982528|Maxillary sinus cancer with very advanced local disease. Tumor invades any of the following: orbital apex, dura, brain, middle cranial fossa, cranial nerves other than maxillary division of trigeminal nerve, nasopharynx, or clivus. (from AJCC 7th Ed.)|NCI|N|
C2982529|A pathologic finding about one or more characteristics of maxillary sinus cancer, following the rules of the TNM AJCC v7 classification system as they pertain to staging of regional lymph nodes.|NCI|N|
C2982530|Maxillary sinus cancer with metastasis in a single ipsilateral lymph node, more than 3 cm but not more than 6 cm in greatest dimension, or in multiple ipsilateral lymph nodes, none more than 6 cm in greatest dimension, or in bilateral or contralateral lymph nodes, none more than 6 cm in greatest dimension. (from AJCC 7th Ed.)|NCI|N|
C2982531|A pathologic finding about one or more characteristics of maxillary sinus cancer, following the rules of the TNM AJCC v7 classification system as they pertain to distant metastases. There is no pathologic M0 for maxillary sinus cancer.|NCI|N|
C2982532|A clinical finding about one or more characteristics of maxillary sinus cancer, following the rules of the TNM AJCC v7 classification system. The assessment is based on inspection and palpation, including examination of the orbits, nasal and oral cavities, and nasopharynx, and neurologic examination of the cranial nerves. Nasal endoscopy with rigid or fiberoptic flexible instruments is recommended. Radiologic assessment with magnetic resonance imaging (MRI) or computed tomography (CT) is mandatory for accurate pretreatment staging of malignant tumors of the sinuses. (from AJCC 7th Ed.)|NCI|N|
C2982533|A clinical finding about one or more characteristics of maxillary sinus cancer, following the rules of the TNM AJCC v7 classification system as they pertain to distant metastases.|NCI|N|
C2982534|Maxillary sinus cancer without evidence of distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2982535|Maxillary sinus cancer with distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2982536|A finding about one or more characteristics of nasal cavity and ethmoid sinus cancer, following the rules of the TNM AJCC v7 classification system.|NCI|N|
C2982537|A pathologic finding about one or more characteristics of nasal cavity and ethmoid sinus cancer, following the rules of the TNM AJCC v7 classification system. The pathologic staging requires the use of all information obtained in clinical staging and in histologic study of the surgically resected specimens. The surgeon''s evaluation of gross unresected residual tumor must also be included. (from AJCC 7th Ed.)|NCI|N|
C2982538|A pathologic finding about one or more characteristics of nasal cavity and ethmoid sinus cancer, following the rules of the TNM AJCC v7 classification system as they pertain to staging of the primary tumor.|NCI|N|
C2982539|Nasal cavity and ethmoid sinus cancer with moderately advanced local disease. Tumor invades any of the following: anterior orbital contents, skin of nose or cheek, minimal extension to anterior cranial fossa, pterygoid plates, sphenoid or frontal sinuses. (from AJCC 7th Ed.)|NCI|N|
C2982540|Nasal cavity and ethmoid sinus cancer with very advanced local disease. Tumor invades any of the following: orbital apex, dura, brain, middle cranial fossa, cranial nerves other than maxillary division of trigeminal nerve, nasopharynx, or clivus. (from AJCC 7th Ed.)|NCI|N|
C2982541|A pathologic finding about one or more characteristics of nasal cavity and ethmoid sinus cancer, following the rules of the TNM AJCC v7 classification system as they pertain to staging of regional lymph nodes.|NCI|N|
C2982542|Nasal cavity and ethmoid sinus cancer with metastasis in a single ipsilateral lymph node, more than 3 cm but not more than 6 cm in greatest dimension, or in multiple ipsilateral lymph nodes, none more than 6 cm in greatest dimension, or in bilateral or contralateral lymph nodes, none more than 6 cm in greatest dimension. (from AJCC 7th Ed.)|NCI|N|
C2982543|A pathologic finding about one or more characteristics of nasal cavity and ethmoid sinus cancer, following the rules of the TNM AJCC v7 classification system as they pertain to distant metastases. There is no pathologic M0 for nasal cavity and ethmoid sinus cancer.|NCI|N|
C2982544|A clinical finding about one or more characteristics of nasal cavity and ethmoid sinus cancer, following the rules of the TNM AJCC v7 classification system. The assessment is based on inspection and palpation, including examination of the orbits, nasal and oral cavities, and nasopharynx, and neurologic examination of the cranial nerves. Nasal endoscopy with rigid or fiberoptic flexible instruments is recommended. Radiologic assessment with magnetic resonance imaging (MRI) or computed tomography (CT) is mandatory for accurate pretreatment staging of malignant tumors of the sinuses. (from AJCC 7th Ed.)|NCI|N|
C2982545|A clinical finding about one or more characteristics of nasal cavity and ethmoid sinus cancer, following the rules of the TNM AJCC v7 classification system as they pertain to distant metastases.|NCI|N|
C2982546|Nasal cavity and ethmoid sinus cancer without evidence of distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2982547|Nasal cavity and ethmoid sinus cancer with distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2982548|A finding about one or more characteristics of major salivary gland cancer, following the rules of the TNM AJCC v7 classification system. This classification applies to parotid, submandibular, and sublingual glands. (from AJCC 7th Ed.)|NCI|N|
C2982549|A pathologic finding about one or more characteristics of major salivary gland cancer, following the rules of the TNM AJCC v7 classification system.|NCI|N|
C2982550|A pathologic finding about one or more characteristics of major salivary gland cancer, following the rules of the TNM AJCC v7 classification system as they pertain to staging of the primary tumor.|NCI|N|
C2982551|Major salivary gland cancer with moderately advanced disease. Tumor invades skin, mandible, ear canal, and/or facial nerve. (from AJCC 7th Ed.)|NCI|N|
C2982552|Major salivary gland cancer with very advanced disease. Tumor invades skull base and/or pterygoid plates and/or encases carotid artery. (from AJCC 7th Ed.)|NCI|N|
C2982553|A pathologic finding about one or more characteristics of major salivary gland cancer, following the rules of the TNM AJCC v7 classification system as they pertain to staging of regional lymph nodes.|NCI|N|
C2982554|A pathologic finding about one or more characteristics of major salivary gland cancer, following the rules of the TNM AJCC v7 classification system as they pertain to distant metastases. There is no pathologic M0 for major salivary gland cancer.|NCI|N|
C2982555|A clinical finding about one or more characteristics of major salivary gland cancer, following the rules of the TNM AJCC v7 classification system. The assessment of primary salivary gland tumors includes a pertinent history, (pain, trismus, etc.), inspection, palpation, and evaluation of the cranial nerves. Radiologic studies may add information valuable for staging. (from AJCC 7th Ed.)|NCI|N|
C2982556|A clinical finding about one or more characteristics of major salivary gland cancer, following the rules of the TNM AJCC v7 classification system as they pertain to distant metastases.|NCI|N|
C2982557|Major salivary gland cancer without evidence of distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2982558|Major salivary gland cancer with distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2982559|A finding about one or more characteristics of mucosal melanoma of the head and neck, following the rules of the TNM AJCC v7 classification system.|NCI|N|
C2982560|A pathologic finding about one or more characteristics of mucosal melanoma of the head and neck, following the rules of the TNM AJCC v7 classification system.|NCI|N|
C2982561|A pathologic finding about one or more characteristics of mucosal melanoma of the head and neck, following the rules of the TNM AJCC v7 classification system as they pertain to staging of the primary tumor.|NCI|N|
C2982562|Mucosal melanoma of the head and neck with mucosal disease. (from AJCC 7th Ed.)|NCI|N|
C2982563|Mucosal melanoma of the head and neck with moderately advanced disease. Tumor involves deep soft tissue, cartilage, bone, or overlying skin. (from AJCC 7th Ed.)|NCI|N|
C2982564|Mucosal melanoma of the head and neck with very advanced disease. Tumor involves brain, dura, skull base, lower cranial nerves (IX, X, XI, XII), masticator space, carotid artery, prevertebral space, or mediastinal structures. (from AJCC 7th Ed.)|NCI|N|
C2982565|A pathologic finding about one or more characteristics of mucosal melanoma of the head and neck, following the rules of the TNM AJCC v7 classification system as they pertain to staging of regional lymph nodes.|NCI|N|
C2982566|Mucosal melanoma of the head and neck in which the regional lymph nodes cannot be assessed. (from AJCC 7th Ed.)|NCI|N|
C2982567|Mucosal melanoma of the head and neck with no metastases to regional lymph nodes. (from AJCC 7th Ed.)|NCI|N|
C2982568|Mucosal melanoma of the head and neck with regional lymph node metastases. (from AJCC 7th Ed.)|NCI|N|
C2982569|A pathologic finding about one or more characteristics of mucosal melanoma of the head and neck, following the rules of the TNM AJCC v7 classification system as they pertain to distant metastases. There is no pathologic M0 for mucosal melanoma of the head and neck.|NCI|N|
C2982570|Mucosal melanoma of the head and neck with distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2982571|A clinical finding about one or more characteristics of mucosal melanoma of the head and neck, following the rules of the TNM AJCC v7 classification system.|NCI|N|
C2982572|A clinical finding about one or more characteristics of mucosal melanoma of the head and neck, following the rules of the TNM AJCC v7 classification system as they pertain to distant metastases.|NCI|N|
C2982573|Mucosal melanoma of the head and neck without evidence of distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2982574|Mucosal melanoma of the head and neck with distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2982575|A finding about one or more characteristics of thyroid cancer, following the rules of the TNM AJCC v7 classification system. Both the histologic diagnosis and the age of the patient are of such importance in the behavior and prognosis of thyroid cancer that these factors are included in this staging system. (from AJCC 7th Ed.)|NCI|N|
C2982576|A pathologic finding about one or more characteristics of thyroid cancer, following the rules of the TNM AJCC v7 classification system. The pathologic staging requires the use of all information obtained in the clinical staging, as well as histologic study of the surgically resected specimens. The surgeon''s description of gross unresected residual tumor must also be included. (from AJCC 7th Ed.)|NCI|N|
C2982577|A pathologic finding about one or more characteristics of thyroid cancer, following the rules of the TNM AJCC v7 classification system as they pertain to staging of the primary tumor. Note: All categories may be subdivided: (s) solitary tumors and (m) multifocal tumor (the largest determines the classification) (from AJCC 7th Ed.)|NCI|N|
C2982578|Thyroid cancer with a tumor size of 1 cm or less in greatest dimension, limited to the thyroid gland. (from AJCC 7th Ed.)|NCI|N|
C2982579|Thyroid cancer with a tumor size of more than 1 cm but not more than 2 cm in greatest dimension, limited to the thyroid gland. (from AJCC 7th Ed.)|NCI|N|
C2982580|Thyroid cancer with moderately advanced local disease. Tumor of any size extending beyond the thyroid gland capsule to invade subcutaneous soft tissues, larynx, trachea, esophagus, or recurrent laryngeal nerve. (from AJCC 7th Ed.)|NCI|N|
C2982581|Intrathyroidal anaplastic carcinoma. (from AJCC 7th Ed.)|NCI|N|
C2982582|Thyroid cancer with very advanced disease. Tumor invades prevertebral fascia or encases carotid artery or mediastinal vessels. (from AJCC 7th Ed.)|NCI|N|
C2982583|Anaplastic carcinoma with gross extrathyroid extension. (from AJCC 7th Ed.)|NCI|N|
C2982584|A pathologic finding about one or more characteristics of thyroid cancer, following the rules of the TNM AJCC v7 classification system as they pertain to staging of regional lymph nodes.|NCI|N|
C2982585|Thyroid cancer with metastasis to unilateral, bilateral or contralateral cervical (Levels I, II, III, IV, or V) or retropharyngeal or superior mediastinal lymph nodes (Level VII). (from AJCC 7th Ed.)|NCI|N|
C2982586|A pathologic finding about one or more characteristics of thyroid cancer, following the rules of the TNM AJCC v7 classification system as they pertain to distant metastases. There is no pathologic M0 for thyroid cancer.|NCI|N|
C2982587|A clinical finding about one or more characteristics of thyroid cancer, following the rules of the TNM AJCC v7 classification system. The assessment of a thyroid tumor depends on inspection and palpation of the thyroid gland and regional lymph nodes. Indirect laryngoscopy to evaluate vocal cord motion is essential. A variety of imaging procedures can provide additional useful information. These include radioisotope thyroid scans, ultrasonography, computed tomography scans (CT), magnetic resonance imaging (MRI) scans, and PET scans. The diagnosis of thyroid cancer must be confirmed by needle biopsy or open biopsy of the tumor. (from AJCC 7th Ed.)|NCI|N|
C2982588|A clinical finding about one or more characteristics of thyroid cancer, following the rules of the TNM AJCC v7 classification system as they pertain to distant metastases.|NCI|N|
C2982589|Thyroid cancer without evidence of distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2982590|Thyroid cancer with distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2982591|A rare disorder of infancy characterized by marked reduction or absence of megakaryocytes and thrombocytopenia.|NCI|N|
C2982592|A finding about one or more characteristics of genitourinary system cancer, following the rules of the TNM AJCC v7 classification system.|NCI|N|
C2982593|A finding about one or more characteristics of penile cancer, following the rules of the TNM AJCC v7 classification system. Primary urethral carcinomas and melanomas are not included in this classification. (from AJCC 7th Ed.)|NCI|N|
C2982594|A pathologic finding about one or more characteristics of penile cancer, following the rules of the TNM AJCC v7 classification system. Complete resection of the primary site with appropriate margins is required for pathologic classification. (from AJCC 7th Ed.)|NCI|N|
C2982595|A pathologic finding about one or more characteristics of penile cancer, following the rules of the TNM AJCC v7 classification system as they pertain to staging of the primary tumor.|NCI|N|
C2982596|Penile cancer in which the primary tumor cannot be assessed. (from AJCC 7th Ed.)|NCI|N|
C2982597|Penile cancer with no evidence of a primary tumor. (from AJCC 7th Ed.)|NCI|N|
C2982598|Penile cancer with a finding of carcinoma in situ. (from AJCC 7th Ed.)|NCI|N|
C2982599|Penile cancer with a finding of noninvasive verrucous carcinoma. Note: Broad pushing penetration (invasion) is permitted; destructive invasion is against this diagnosis. (from AJCC 7th Ed.)|NCI|N|
C2982600|Penile cancer with tumor invading subepithelial connective tissue without lymph vascular invasion and is not poorly differentiated (i.e., grade 3-4), or tumor invading subepithelial connective tissue with lymph vascular invasion or is poorly differentiated. (from AJCC 7th Ed.)|NCI|N|
C2982601|Penile cancer with tumor invading subepithelial connective tissue without lymph vascular invasion and is not poorly differentiated (i.e., grade 3-4). (from AJCC 7th Ed.)|NCI|N|
C2982602|Penile cancer with tumor invading subepithelial connective tissue with lymph vascular invasion or is poorly differentiated. (from AJCC 7th Ed.)|NCI|N|
C2982603|Penile cancer with tumor invading corpus spongiosum or cavernosum. (from AJCC 7th Ed.)|NCI|N|
C2982604|Penile cancer with tumor invading urethra. (from AJCC 7th Ed.)|NCI|N|
C2982605|Penile cancer with tumor invading other adjacent structures. (from AJCC 7th Ed.)|NCI|N|
C2982606|A pathologic finding about one or more characteristics of penile cancer, following the rules of the TNM AJCC v7 classification system as they pertain to staging of regional lymph nodes. Pathologic stage definitions are based on biopsy or surgical excision findings. (from AJCC 7th Ed.)|NCI|N|
C2982607|Penile cancer in which the regional lymph nodes cannot be assessed. (from AJCC 7th Ed.)|NCI|N|
C2982608|Penile cancer with no regional lymph node metastasis. (from AJCC 7th Ed.)|NCI|N|
C2982609|Penile cancer with metastasis in a single inguinal lymph node. (from AJCC 7th Ed.)|NCI|N|
C2982610|Penile cancer with metastasis in multiple or bilateral inguinal lymph nodes. (from AJCC 7th Ed.)|NCI|N|
C2982611|Penile cancer with extranodal extension of lymph node metastasis or pelvic lymph node(s) unilateral or bilateral. (from AJCC 7th Ed.)|NCI|N|
C2982612|A pathologic finding about one or more characteristics of penile cancer, following the rules of the TNM AJCC v7 classification system as they pertain to distant metastases. There is no pathologic M0 for penile cancer. (from AJCC 7th Ed.)|NCI|N|
C2982613|Penile cancer with distant metastasis (lymph node metastasis outside of the true pelvis in addition to visceral or bone sites). (from AJCC 7th Ed.)|NCI|N|
C2982614|A clinical finding about one or more characteristics of penile cancer, following the rules of the TNM AJCC v7 classification system.|NCI|N|
C2982615|A clinical finding about one or more characteristics of penile cancer, following the rules of the TNM AJCC v7 classification system as they pertain to staging of regional lymph nodes. Clinical stage definitions are based on palpation and imaging. (from AJCC 7th Ed.)|NCI|N|
C2982616|Penile cancer in which the regional lymph nodes cannot be assessed. (from AJCC 7th Ed.)|NCI|N|
C2982617|Penile cancer with no palpable or visibly enlarged inguinal lymph nodes. (from AJCC 7th Ed.)|NCI|N|
C2982618|Penile cancer with palpable mobile unilateral inguinal lymph node. (from AJCC 7th Ed.)|NCI|N|
C2982619|Penile cancer with palpable mobile multiple or bilateral inguinal lymph nodes. (from AJCC 7th Ed.)|NCI|N|
C2982620|Penile cancer with palpable fixed inguinal nodal mass or pelvic lymphadenopathy unilateral or bilateral. (from AJCC 7th Ed.)|NCI|N|
C2982621|A clinical finding about one or more characteristics of penile cancer, following the rules of the TNM AJCC v7 classification system as they pertain to distant metastases.|NCI|N|
C2982622|Penile cancer without evidence of distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2982623|Penile cancer with distant metastasis (lymph node metastasis outside of the true pelvis in addition to visceral or bone sites). (from AJCC 7th Ed.)|NCI|N|
C2982624|A finding about one or more characteristics of prostate cancer, following the rules of the TNM AJCC v7 classification system. Sarcomas and transitional cell carcinomas are not included in this classification. (from AJCC 7th Ed.)|NCI|N|
C2982625|A pathologic finding about one or more characteristics of prostate cancer, following the rules of the TNM AJCC v7 classification system. (from AJCC 7th Ed.)|NCI|N|
C2982626|A pathologic finding about one or more characteristics of prostate cancer, following the rules of the TNM AJCC v7 classification system as they pertain to staging of the primary tumor. There is no pathologic T1 classification for prostate cancer. (from AJCC 7th Ed.)|NCI|N|
C2982627|Prostate cancer with extraprostatic extension or microscopic invasion of bladder neck. Positive surgical margin should be indicated by an R1 descriptor (residual microscopic disease). (from AJCC 7th Ed.)|NCI|N|
C2982628|Prostate cancer with tumor invading the rectum, levator muscles, and/or pelvic wall. (from AJCC 7th Ed.)|NCI|N|
C2982629|A pathologic finding about one or more characteristics of prostate cancer, following the rules of the TNM AJCC v7 classification system as they pertain to staging of regional lymph nodes. (from AJCC 7th Ed.)|NCI|N|
C2982630|A pathologic finding about one or more characteristics of prostate cancer, following the rules of the TNM AJCC v7 classification system as they pertain to distant metastases. There is no pathologic M0 for prostate cancer. When more than one site of metastasis is present, the most advanced category is used. pM1c is most advanced. (from AJCC 7th Ed.)|NCI|N|
C2982631|A clinical finding about one or more characteristics of prostate cancer, following the rules of the TNM AJCC v7 classification system.|NCI|N|
C2982632|A clinical finding about one or more characteristics of prostate cancer, following the rules of the TNM AJCC v7 classification system as they pertain to staging of the primary tumor. (from AJCC 7th Ed.)|NCI|N|
C2982633|Primary tumor cannot be assessed. (from AJCC 7th Ed.)|NCI|N|
C2982634|No evidence of primary tumor. (from AJCC 7th Ed.)|NCI|N|
C2982635|Clinically inapparent tumor neither palpable nor visible by imaging. (from AJCC 7th Ed.)|NCI|N|
C2982636|Tumor incidental histologic finding in 5% or less of tissue resected. (from AJCC 7th Ed.)|NCI|N|
C2982637|Tumor incidental histologic finding in more than 5% of tissue resected. (from AJCC 7th Ed.)|NCI|N|
C2982638|Tumor identified by needle biopsy (e.g., because of elevated PSA). (from AJCC 7th Ed.)|NCI|N|
C2982639|Prostate cancer confined within the prostate. Tumor found in one or both lobes by needle biopsy, but not palpable or reliably visible by imaging, is classified as T1c. (from AJCC 7th Ed.)|NCI|N|
C2982640|Prostate cancer with tumor involving one-half of one lobe or less. (from AJCC 7th Ed.)|NCI|N|
C2982641|Prostate cancer with tumor involving more than one-half of one lobe, but not both lobes. (from AJCC 7th Ed.)|NCI|N|
C2982642|Prostate cancer with tumor involving both lobes. (from AJCC 7th Ed.)|NCI|N|
C2982643|Prostate cancer extending through the prostatic capsule. Invasion into the prostatic apex or into (but not beyond) the prostatic capsule is classified not as T3 but as T2. (from AJCC 7th Ed.)|NCI|N|
C2982644|Prostate cancer with extracapsular extension (unilateral or bilateral). (from AJCC 7th Ed.)|NCI|N|
C2982645|Prostate cancer invading seminal vesicle(s). (from AJCC 7th Ed.)|NCI|N|
C2982646|Prostate cancer with fixed tumor or tumor invading adjacent structures other than seminal vesicles such as external sphincter, rectum, bladder, levator muscles, and/or pelvic wall. (from AJCC 7th Ed.)|NCI|N|
C2982647|A clinical finding about one or more characteristics of prostate cancer, following the rules of the TNM AJCC v7 classification system as they pertain to staging of regional lymph nodes. (from AJCC 7th Ed.)|NCI|N|
C2982648|Prostate cancer in which the regional lymph nodes cannot be assessed. (from AJCC 7th Ed.)|NCI|N|
C2982649|Prostate cancer with no regional lymph node metastasis. (from AJCC 7th Ed.)|NCI|N|
C2982650|Prostate cancer with metastasis in regional lymph node(s). (from AJCC 7th Ed.)|NCI|N|
C2982651|A clinical finding about one or more characteristics of prostate cancer, following the rules of the TNM AJCC v7 classification system as they pertain to distant metastases.|NCI|N|
C2982652|Prostate cancer without evidence of distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2982653|Prostate cancer with distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2982654|Prostate cancer with metastasis to non-regional lymph node(s). (from AJCC 7th Ed.)|NCI|N|
C2982655|Prostate cancer with metastasis to bone(s). (from AJCC 7th Ed.)|NCI|N|
C2982656|Prostate cancer with metastasis to other site(s) with or without bone disease. (from AJCC 7th Ed.)|NCI|N|
C2982657|A finding about one or more characteristics of testicular cancer, following the rules of the TNM AJCC v7 classification system.|NCI|N|
C2982658|A pathologic finding about one or more characteristics of testicular cancer, following the rules of the TNM AJCC v7 classification system. Histologic examination of the orchiectomy specimen must be used for the pathologic examination. (from AJCC 7th Ed.)|NCI|N|
C2982659|A pathologic finding about one or more characteristics of testicular cancer, following the rules of the TNM AJCC v7 classification system as they pertain to staging of the primary tumor. The extent of primary tumor is usually classified after radical orchiectomy, and for this reason, a pathologic stage is assigned. (from AJCC 7th Ed.)|NCI|N|
C2982660|Testicular cancer in which the primary tumor cannot be assessed. (from AJCC 7th Ed.)|NCI|N|
C2982661|No evidence of primary tumor (e.g., histologic scar in testis). (from AJCC 7th Ed.)|NCI|N|
C2982662|Intratubular germ cell neoplasia (carcinoma in situ). (from AJCC 7th Ed.)|NCI|N|
C2982663|Testicular cancer with tumor limited to the testis and epididymis without vascular/lymphatic invasion; tumor may invade into the tunica albuginea but not the tunica vaginalis. (from AJCC 7th Ed.)|NCI|N|
C2982664|Testicular cancer with tumor limited to the testis and epididymis with vascular/lymphatic invasion, or tumor extending through the tunica albuginea with involvement of the tunica vaginalis. (from AJCC 7th Ed.)|NCI|N|
C2982665|Testicular cancer with tumor invading the spermatic cord with or without vascular/lymphatic invasion. (from AJCC 7th Ed.)|NCI|N|
C2982666|Testicular cancer with tumor invading the scrotum with or without vascular/lymphatic invasion. (from AJCC 7th Ed.)|NCI|N|
C2982667|A pathologic finding about one or more characteristics of testicular cancer, following the rules of the TNM AJCC v7 classification system as they pertain to staging of regional lymph nodes. (from AJCC 7th Ed.)|NCI|N|
C2982668|Testicular cancer in which regional lymph nodes cannot be assessed. (from AJCC 7th Ed.)|NCI|N|
C2982669|Testicular cancer with no regional lymph node metastasis. (from AJCC 7th Ed.)|NCI|N|
C2982670|Metastasis with a lymph node mass 2 cm or less in greatest dimension and less than or equal to five nodes positive, none more than 2 cm in greatest dimension. (from AJCC 7th Ed.)|NCI|N|
C2982671|Metastasis with a lymph node mass more than 2 cm but not more than 5 cm in greatest dimension; or more than five nodes positive, none more than 5 cm; or evidence of extranodal extension of tumor. (from AJCC 7th Ed.)|NCI|N|
C2982672|Metastasis with a lymph node mass more than 5 cm in greatest dimension. (from AJCC 7th Ed.)|NCI|N|
C2982673|A pathologic finding about one or more characteristics of testicular cancer, following the rules of the TNM AJCC v7 classification system as they pertain to distant metastases. There is no pathologic M0 for testicular cancer. (from AJCC 7th Ed.)|NCI|N|
C2982674|Testicular cancer with distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2982675|Testicular cancer with non-regional nodal or pulmonary metastasis. (from AJCC 7th Ed.)|NCI|N|
C2982676|Testicular cancer with metastasis other than to non-regional lymph nodes and lung. (from AJCC 7th Ed.)|NCI|N|
C2982677|A clinical finding about one or more characteristics of testicular cancer, following the rules of the TNM AJCC v7 classification system.|NCI|N|
C2982678|A clinical finding about one or more characteristics of testicular cancer, following the rules of the TNM AJCC v7 classification system as they pertain to staging of regional lymph nodes. (from AJCC 7th Ed.)|NCI|N|
C2982679|Testicular cancer in which the regional lymph nodes cannot be assessed. (from AJCC 7th Ed.)|NCI|N|
C2982680|Testicular cancer with no regional lymph node metastasis. (from AJCC 7th Ed.)|NCI|N|
C2982681|Metastasis with a lymph node mass 2 cm or less in greatest dimension; or multiple lymph nodes, none more than 2 cm in greatest dimension. (from AJCC 7th Ed.)|NCI|N|
C2982682|Metastasis with a lymph node mass more than 2 cm but not more than 5 cm in greatest dimension; or multiple lymph nodes, any one mass greater than 2 cm but not more than 5 cm in greatest dimension. (from AJCC 7th Ed.)|NCI|N|
C2982683|Metastasis with a lymph node mass more than 5 cm in greatest dimension. (from AJCC 7th Ed.)|NCI|N|
C2982684|A clinical finding about one or more characteristics of testicular cancer, following the rules of the TNM AJCC v7 classification system as they pertain to distant metastases.|NCI|N|
C2982685|Testicular cancer without evidence of distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2982686|Testicular cancer with distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2982687|Testicular cancer with non-regional nodal or pulmonary metastasis. (from AJCC 7th Ed.)|NCI|N|
C2982688|Testicular cancer with distant metastasis other than to non-regional lymph nodes and lung. (from AJCC 7th Ed.)|NCI|N|
C2982692|A finding about one or more characteristics of kidney cancer, following the rules of the TNM AJCC v7 classification system. Renal pelvis and ureter cancers are not included in this classification. (from AJCC 7th Ed.)|NCI|N|
C2982693|A pathologic finding about one or more characteristics of kidney cancer, following the rules of the TNM AJCC v7 classification system. Histologic examination of the surgical specimen and confirmation of the disease extent is required. (from AJCC 7th Ed.)|NCI|N|
C2982694|A pathologic finding about one or more characteristics of kidney cancer, following the rules of the TNM AJCC v7 classification system as they pertain to staging of the primary tumor. (from AJCC 7th Ed.)|NCI|N|
C2982695|Kidney cancer with tumor more than 7 cm but less than or equal to 10 cm in greatest dimension, limited to the kidney. (from AJCC 7th Ed.)|NCI|N|
C2982696|Kidney cancer with tumor more than 10 cm in greatest dimension, limited to the kidney. (from AJCC 7th Ed.)|NCI|N|
C2982697|Kidney cancer with tumor extending into major veins or perinephric tissues but not into the ipsilateral adrenal gland and not beyond Gerota''s fascia. (from AJCC 7th Ed.)|NCI|N|
C2982698|Kidney cancer with tumor grossly extending into the renal vein or its segmental (muscle containing) branches or tumor invading perirenal and/or renal sinus fat but not beyond Gerota''s fascia. (from AJCC 7th Ed.)|NCI|N|
C2982699|Kidney cancer with tumor grossly extending into the vena cava below the diaphragm. (from AJCC 7th Ed.)|NCI|N|
C2982700|Kidney cancer with tumor grossly extending into the vena cava above the diaphragm, or invading the wall of the vena cava. (from AJCC 7th Ed.)|NCI|N|
C2982701|Kidney cancer with tumor invading beyond Gerota''s fascia (including contiguous extension into the ipsilateral adrenal gland). (from AJCC 7th Ed.)|NCI|N|
C2982702|A pathologic finding about one or more characteristics of kidney cancer, following the rules of the TNM AJCC v7 classification system as they pertain to staging of regional lymph nodes. (from AJCC 7th Ed.)|NCI|N|
C2982703|Kidney cancer with metastasis in regional lymph node(s). (from AJCC 7th Ed.)|NCI|N|
C2982704|A pathologic finding about one or more characteristics of kidney cancer, following the rules of the TNM AJCC v7 classification system as they pertain to distant metastases. There is no pathologic M0 for kidney cancer. (from AJCC 7th Ed.)|NCI|N|
C2982705|A clinical finding about one or more characteristics of kidney cancer, following the rules of the TNM AJCC v7 classification system. Clinical examination, abdominal computed tomography scanning, and other appropriate imaging techniques are required for assessment of the primary tumor and its extensions, both local and distant. Evaluation for distant metastasis should be done by laboratory biochemical studies, chest radiographs, and, if clinically indicated, additional studies. (from AJCC 7th Ed.)|NCI|N|
C2982706|A clinical finding about one or more characteristics of kidney cancer, following the rules of the TNM AJCC v7 classification system as they pertain to distant metastases.|NCI|N|
C2982707|Kidney cancer without evidence of distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2982708|Kidney cancer with distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2982709|A finding about one or more characteristics of renal pelvis and ureter cancer, following the rules of the TNM AJCC v7 classification system.|NCI|N|
C2982710|A pathologic finding about one or more characteristics of renal pelvis and ureter cancer, following the rules of the TNM AJCC v7 classification system. Pathologic staging depends on histologic determination of the extent of invasion by the primary tumor. (from AJCC 7th Ed.)|NCI|N|
C2982711|A pathologic finding about one or more characteristics of renal pelvis and ureter cancer, following the rules of the TNM AJCC v7 classification system as they pertain to staging of the primary tumor.|NCI|N|
C2982712|Renal pelvis and ureter cancer in which the primary tumor cannot be assessed. (from AJCC 7th Ed.)|NCI|N|
C2982713|Renal pelvis and ureter cancer with no evidence of a primary tumor. (from AJCC 7th Ed.)|NCI|N|
C2982714|Renal pelvis and ureter cancer with a finding of papillary noninvasive carcinoma. (from AJCC 7th Ed.)|NCI|N|
C2982715|Renal pelvis and ureter cancer with a finding of carcinoma in situ. (from AJCC 7th Ed.)|NCI|N|
C2982716|Renal pelvis and ureter cancer with tumor invading subepithelial connective tissue. (from AJCC 7th Ed.)|NCI|N|
C2982717|Renal pelvis and ureter cancer with tumor invading the muscularis. (from AJCC 7th Ed.)|NCI|N|
C2982718|For renal pelvis cancer only: tumor invading beyond muscularis into peripelvic fat or the renal parenchyma. For ureter cancer only: tumor invading beyond muscularis into periureteric fat. (from AJCC 7th Ed.)|NCI|N|
C2982719|Renal pelvis and ureter cancer with tumor invading adjacent organs, or through the kidney into the perinephric fat. (from AJCC 7th Ed.)|NCI|N|
C2982720|A pathologic finding about one or more characteristics of renal pelvis and ureter cancer, following the rules of the TNM AJCC v7 classification system as they pertain to staging of regional lymph nodes. Note: laterality does not affect the N classification. (from AJCC 7th Ed.)|NCI|N|
C2982721|Renal pelvis and ureter cancer in which the regional lymph nodes cannot be assessed. (from AJCC 7th Ed.)|NCI|N|
C2982722|Renal pelvis and ureter cancer with no regional lymph node metastasis. (from AJCC 7th Ed.)|NCI|N|
C2982723|Renal pelvis and ureter cancer with metastasis in a single lymph node, 2 cm or less in greatest dimension. (from AJCC 7th Ed.)|NCI|N|
C2982724|Renal pelvis and ureter cancer with metastasis in a single lymph node, more than 2 cm but not more than 5 cm in greatest dimension; or multiple lymph nodes, none more than 5 cm in greatest dimension. (from AJCC 7th Ed.)|NCI|N|
C2982725|Renal pelvis and ureter cancer with metastasis in a lymph node, more than 5 cm in greatest dimension. (from AJCC 7th Ed.)|NCI|N|
C2982726|A pathologic finding about one or more characteristics of renal pelvis and ureter cancer, following the rules of the TNM AJCC v7 classification system as they pertain to distant metastases. There is no pathologic M0 for renal pelvis and ureter cancer. (from AJCC 7th Ed.)|NCI|N|
C2982727|Renal pelvis and ureter cancer with distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2982728|A clinical finding about one or more characteristics of renal pelvis and ureter cancer, following the rules of the TNM AJCC v7 classification system. Primary tumor assessment includes radiographic imaging, usually by intravenous and/or retrograde pyelography. Computerized tomography scanning can be used to assess regional nodes. Ureteroscopic visualization of the tumor is desirable, and tissue biopsy through the ureteroscope may be performed if feasible. Urine cytology may help determine tumor grade if tissue is not available. (from AJCC 7th Ed.)|NCI|N|
C2982729|A clinical finding about one or more characteristics of renal pelvis and ureter cancer, following the rules of the TNM AJCC v7 classification system as they pertain to distant metastases.|NCI|N|
C2982730|Renal pelvis and ureter cancer without evidence of distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2982731|Renal pelvis and ureter cancer with distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2982739|A finding about one or more characteristics of bladder cancer, following the rules of the TNM AJCC v7 classification system.|NCI|N|
C2982740|A pathologic finding about one or more characteristics of bladder cancer, following the rules of the TNM AJCC v7 classification system. Pathologic staging is based on the histologic review of the radical or partial cystectomy specimen. Microscopic examination and confirmation of extent of disease are required. Laterality does not affect the N classification. (from AJCC 7th Ed.)|NCI|N|
C2982741|A pathologic finding about one or more characteristics of bladder cancer, following the rules of the TNM AJCC v7 classification system as they pertain to staging of the primary tumor.|NCI|N|
C2982742|Bladder cancer with tumor invading the muscularis propria. (from AJCC 7th Ed.)|NCI|N|
C2982743|Bladder cancer with tumor invading the superficial muscularis propria (inner half). (from AJCC 7th Ed.)|NCI|N|
C2982744|Bladder cancer with tumor invading the deep muscularis propria (outer half). (from AJCC 7th Ed.)|NCI|N|
C2982745|Bladder cancer with tumor invading any of the following: prostatic stroma, seminal vesicles, uterus, vagina, pelvic wall, abdominal wall. (from AJCC 7th Ed.)|NCI|N|
C2982746|Bladder cancer with tumor invading prostatic stroma, uterus, vagina. (from AJCC 7th Ed.)|NCI|N|
C2982747|A pathologic finding about one or more characteristics of bladder cancer, following the rules of the TNM AJCC v7 classification system as they pertain to staging of regional lymph nodes. Note: regional lymph nodes include both primary and secondary drainage regions. All other nodes above the aortic bifurcation are considered distant lymph nodes. (from AJCC 7th Ed.)|NCI|N|
C2982748|Bladder cancer with single regional lymph node metastasis in the true pelvis (hypogastric, obturator, external iliac, or presacral lymph node). (from AJCC 7th Ed.)|NCI|N|
C2982749|Bladder cancer with multiple regional lymph node metastases in the true pelvis (hypogastric, obturator, external iliac, or presacral lymph node metastasis). (from AJCC 7th Ed.)|NCI|N|
C2982750|Bladder cancer with metastasis to the common iliac lymph nodes. (from AJCC 7th Ed.)|NCI|N|
C2982751|A pathologic finding about one or more characteristics of bladder cancer, following the rules of the TNM AJCC v7 classification system as they pertain to distant metastases. There is no pathologic M0 for bladder cancer. (from AJCC 7th Ed.)|NCI|N|
C2982752|A clinical finding about one or more characteristics of bladder cancer, following the rules of the TNM AJCC v7 classification system. Primary tumor assessment includes bimanual examination under anesthesia before and after endoscopic surgery (biopsy or transurethral resection) and histologic verification of the presence or absence of tumor when indicated. Appropriate imaging techniques for extravesical extension of the primary tumor and lymph node evaluation should be incorporated into clinical staging. (from AJCC 7th Ed.)|NCI|N|
C2982753|A clinical finding about one or more characteristics of bladder cancer, following the rules of the TNM AJCC v7 classification system as they pertain to distant metastases.|NCI|N|
C2982754|Bladder cancer without evidence of distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2982755|Bladder cancer with distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2982756|A finding about one or more characteristics of urethral cancer, following the rules of the TNM AJCC v7 classification system.|NCI|N|
C2982757|A pathologic finding about one or more characteristics of urethral cancer, following the rules of the TNM AJCC v7 classification system.|NCI|N|
C2982758|A pathologic finding about one or more characteristics of urethral cancer, following the rules of the TNM AJCC v7 classification system as they pertain to staging of the primary tumor.|NCI|N|
C2982759|Urethral cancer in which the primary tumor cannot be assessed. (from AJCC 7th Ed.)|NCI|N|
C2982760|Urethral cancer with no evidence of primary tumor. (from AJCC 7th Ed.)|NCI|N|
C2982761|Urethral cancer with a finding of noninvasive papillary, polypoid, or verrucous carcinoma. (from AJCC 7th Ed.)|NCI|N|
C2982762|Urethral cancer with a finding of carcinoma in situ. (from AJCC 7th Ed.)|NCI|N|
C2982763|Urethral cancer with tumor invading subepithelial connective tissue. (from AJCC 7th Ed.)|NCI|N|
C2982764|Urethral cancer with tumor invading any of the following: corpus spongiosum, prostate, periurethral muscle. (from AJCC 7th Ed.)|NCI|N|
C2982765|Urethral cancer with tumor invading any of the following: corpus cavernosum, beyond prostatic capsule, anterior vagina, bladder neck. (from AJCC 7th Ed.)|NCI|N|
C2982766|Urethral cancer with tumor invading other adjacent organs. (from AJCC 7th Ed.)|NCI|N|
C2982767|A pathologic finding about one or more characteristics of urothelial (transitional cell) carcinoma of the prostate, following the rules of the TNM AJCC v7 classification system as they pertain to staging of the primary tumor.|NCI|N|
C2982768|Urothelial (transitional cell) carcinoma of the prostate with a finding of carcinoma in situ and involvement of the prostatic urethra. (from AJCC 7th Ed.)|NCI|N|
C2982769|Urothelial (transitional cell) carcinoma of the prostate with a finding of carcinoma in situ and involvement of the prostatic ducts. (from AJCC 7th Ed.)|NCI|N|
C2982770|Urothelial (transitional cell) carcinoma of the prostate with tumor invading urethral subepithelial connective tissue. (from AJCC 7th Ed.)|NCI|N|
C2982771|Urothelial (transitional cell) carcinoma of the prostate with tumor invading any of the following: prostatic stroma, corpus spongiosum, periurethral muscle. (from AJCC 7th Ed.)|NCI|N|
C2982772|Urothelial (transitional cell) carcinoma of the prostate with tumor invading any of the following: corpus cavernosum, beyond prostatic capsule, bladder neck (extraprostatic extension). (from AJCC 7th Ed.)|NCI|N|
C2982773|Urothelial (transitional cell) carcinoma of the prostate with tumor invading other adjacent organs (invasion of the bladder). (from AJCC 7th Ed.)|NCI|N|
C2982774|A pathologic finding about one or more characteristics of urethral cancer, following the rules of the TNM AJCC v7 classification system as they pertain to staging of regional lymph nodes.|NCI|N|
C2982775|Urethral cancer in which the regional lymph nodes cannot be assessed. (from AJCC 7th Ed.)|NCI|N|
C2982776|Urethral cancer with no regional lymph node metastasis. (from AJCC 7th Ed.)|NCI|N|
C2982777|Urethral cancer with metastasis in a singe lymph node 2 cm or less in greatest dimension. (from AJCC 7th Ed.)|NCI|N|
C2982778|Urethral cancer with metastasis in a singe lymph node more than 2 cm in greatest dimension or in multiple lymph nodes. (from AJCC 7th Ed.)|NCI|N|
C2982781|A pathologic finding about one or more characteristics of urethral cancer, following the rules of the TNM AJCC v7 classification system as they pertain to distant metastases. There is no pathologic M0 for urethral cancer. (from AJCC 7th Ed.)|NCI|N|
C2982782|Urethral cancer with distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2982783|A clinical finding about one or more characteristics of urethral cancer, following the rules of the TNM AJCC v7 classification system.|NCI|N|
C2982784|A clinical finding about one or more characteristics of urethral cancer, following the rules of the TNM AJCC v7 classification system as they pertain to distant metastases.|NCI|N|
C2982785|Urethral cancer in which there is no evidence of distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2982786|Urethral cancer with distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2982787|A finding about one or more characteristics of adrenal cancer, following the rules of the TNM AJCC v7 classification system.|NCI|N|
C2982788|A pathologic finding about one or more characteristics of adrenal cancer, following the rules of the TNM AJCC v7 classification system. Resection of the primary tumor and examination for lymph node involvement and extent of disease (including vascular invasion) should be performed. Tumor size and weight should be recorded accurately in every case. Histologic examination and confirmation of extent of disease are required. Disease free and overall survival rates appear to correlate strongly with stage of adrenal cortical carcinoma. (from AJCC 7th Ed.)|NCI|N|
C2982789|A pathologic finding about one or more characteristics of adrenal cancer, following the rules of the TNM AJCC v7 classification system as they pertain to staging of the primary tumor.|NCI|N|
C2982790|Adrenal cancer in which the primary tumor cannot be assessed. (from AJCC 7th Ed.)|NCI|N|
C2982791|Adrenal cancer with no evidence of a primary tumor. (from AJCC 7th Ed.)|NCI|N|
C2982792|Adrenal cancer with tumor measuring 5 cm or less in greatest dimension, without extra-adrenal invasion. (from AJCC 7th Ed.)|NCI|N|
C2982793|Adrenal cancer with tumor measuring more than 5 cm in greatest dimension without extra-adrenal invasion. (from AJCC 7th Ed.)|NCI|N|
C2982794|Adrenal cancer with tumor of any size with local invasion, without invasion of adjacent organs. Adjacent organs include kidney, diaphragm, great vessels, pancreas, spleen, and liver. (from AJCC 7th Ed.)|NCI|N|
C2982795|Adrenal cancer with tumor of any size, with invasion of adjacent organs. Adjacent organs include kidney, diaphragm, great vessels, pancreas, spleen, and liver. (from AJCC 7th Ed.)|NCI|N|
C2982796|A pathologic finding about one or more characteristics of adrenal cancer, following the rules of the TNM AJCC v7 classification system as they pertain to staging of regional lymph nodes.|NCI|N|
C2982797|Adrenal cancer in which the regional lymph nodes cannot be assessed. (from AJCC 7th Ed.)|NCI|N|
C2982798|Adrenal cancer with no regional lymph node metastasis. (from AJCC 7th Ed.)|NCI|N|
C2982799|Adrenal cancer with metastasis in regional lymph node(s). (from AJCC 7th Ed.)|NCI|N|
C2982800|A pathologic finding about one or more characteristics of adrenal cancer, following the rules of the TNM AJCC v7 classification system as they pertain to distant metastases. There is no pathologic M0 for adrenal cancer. (from AJCC 7th Ed.)|NCI|N|
C2982801|Adrenal cancer with distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2982802|A clinical finding about one or more characteristics of adrenal cancer, following the rules of the TNM AJCC v7 classification system. Clinical examination and radiographic imaging are required to assess the size of the primary tumor and the extent of disease, both local and distant. Biochemical studies should be performed to evaluate the functional status of the tumor. (from AJCC 7th Ed.)|NCI|N|
C2982803|A clinical finding about one or more characteristics of adrenal cancer, following the rules of the TNM AJCC v7 classification system as they pertain to distant metastases.|NCI|N|
C2982804|Adrenal cancer without evidence of distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2982805|Adrenal cancer with distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2982807|A finding about one or more characteristics of female reproductive system cancer, following the rules of the TNM AJCC v7 classification system.|NCI|N|
C2982808|A finding about one or more characteristics of vulvar cancer, following the rules of the TNM AJCC v7 classification system. Vulvar cancer is a surgically staged malignancy. (from AJCC 7th Ed.)|NCI|N|
C2982809|A pathologic finding about one or more characteristics of vulvar cancer, following the rules of the TNM AJCC v7 classification system as they pertain to staging of the primary tumor.|NCI|N|
C2982810|Vulvar cancer in which the primary tumor cannot be assessed. (from AJCC 7th Ed.)|NCI|N|
C2982811|Vulvar cancer with no evidence of primary tumor. (from AJCC 7th Ed.)|NCI|N|
C2982812|Vulvar cancer with a finding of carcinoma in situ. (from AJCC 7th Ed.)|NCI|N|
C2982813|Invasive vulvar cancer confined to the vulva or perineum. (from AJCC 7th Ed.)|NCI|N|
C2982814|Vulvar cancer with tumor size 2 cm or less, confined to the vulva or perineum and with stromal invasion 1.0 mm or less. The depth of invasion is defined as the measurement of the tumor from the epithelial-stromal junction of the adjacent most superficial dermal papilla to the deepest point of invasion. (from AJCC 7th Ed.)|NCI|N|
C2982815|Vulvar cancer with tumor size greater than 2 cm, or any size with stromal invasion more than 1.0 mm, confined to the vulva or perineum. (from AJCC 7th Ed.)|NCI|N|
C2982816|Vulvar cancer with tumor of any size with extension to adjacent perineal structures (lower/distal 1/3 urethra, lower/distal 1/3 vagina, anal involvement). (from AJCC 7th Ed.)|NCI|N|
C2982817|Vulvar cancer with tumor of any size with extension to any of the following: upper/proximal 2/3 urethra, upper/proximal 2/3 vagina, bladder mucosa, rectal mucosa, or fixed to pelvic bone. (from AJCC 7th Ed.)|NCI|N|
C2982818|A pathologic finding about one or more characteristics of vulvar cancer, following the rules of the TNM AJCC v7 classification system as they pertain to staging of regional lymph nodes.|NCI|N|
C2982819|Vulvar cancer in which regional lymph nodes cannot be assessed. (from AJCC 7th Ed.)|NCI|N|
C2982820|Vulvar cancer without regional lymph node metastasis. (from AJCC 7th Ed.)|NCI|N|
C2982821|Vulvar cancer with one or two lymph node metastasis each measuring 5 mm or less, or one lymph node metastasis measuring 5 mm or greater. (from AJCC 7th Ed.)|NCI|N|
C2982822|Vulvar cancer with one or two lymph node metastasis each measuring 5 mm or less. (from AJCC 7th Ed.)|NCI|N|
C2982823|Vulvar cancer with one lymph node metastasis measuring 5 mm or greater. (from AJCC 7th Ed.)|NCI|N|
C2982824|Vulvar cancer with three or more lymph node metastases each measuring 5 mm or less, or two or more lymph node metastases measuring 5 mm or greater, or lymph node metastasis with extracapsular spread. (from AJCC 7th Ed.)|NCI|N|
C2982825|Vulvar cancer with three or more lymph node metastases each measuring 5 mm or less. (from AJCC 7th Ed.)|NCI|N|
C2982826|Vulvar cancer with two or more lymph node metastases measuring 5 mm or greater. (from AJCC 7th Ed.)|NCI|N|
C2982827|Vulvar cancer with lymph node metastasis with extracapsular spread. (from AJCC 7th Ed.)|NCI|N|
C2982828|Vulvar cancer with fixed or ulcerated regional lymph node metastasis. (from AJCC 7th Ed.)|NCI|N|
C2982829|A pathologic finding about one or more characteristics of vulvar cancer, following the rules of the TNM AJCC v7 classification system.|NCI|N|
C2982830|A pathologic finding about one or more characteristics of vulvar cancer, following the rules of the TNM AJCC v7 classification system as they pertain to distant metastases. There is no pathologic M0 for vulvar cancer.|NCI|N|
C2982831|Vulvar cancer with distant metastasis (including pelvic lymph node metastasis). (from AJCC 7th Ed.)|NCI|N|
C2982832|A clinical finding about one or more characteristics of vulvar cancer, following the rules of the TNM AJCC v7 classification system.|NCI|N|
C2982833|A clinical finding about one or more characteristics of vulvar cancer, following the rules of the TNM AJCC v7 classification system as they pertain to distant metastases.|NCI|N|
C2982834|Vulvar cancer without evidence of distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2982835|Vulvar cancer with distant metastasis (including pelvic lymph node metastasis). (from AJCC 7th Ed.)|NCI|N|
C2982837|A finding about one or more characteristics of vaginal cancer, following the rules of the TNM AJCC v7 classification system.|NCI|N|
C2982838|A pathologic finding about one or more characteristics of vaginal cancer, following the rules of the TNM AJCC v7 classification system.|NCI|N|
C2982839|A pathologic finding about one or more characteristics of vaginal cancer, following the rules of the TNM AJCC v7 classification system as they pertain to staging of the primary tumor.|NCI|N|
C2982840|Vaginal cancer in which the primary tumor cannot be assessed. (from AJCC 7th Ed.)|NCI|N|
C2982841|Vaginal cancer with no evidence of primary tumor. (from AJCC 7th Ed.)|NCI|N|
C2982842|Vaginal cancer with a finding of carcinoma in situ. (from AJCC 7th Ed.)|NCI|N|
C2982843|Vaginal cancer with a tumor confined to vagina. (from AJCC 7th Ed.)|NCI|N|
C2982844|Vaginal cancer invading the paravaginal tissues but not the pelvic wall. (from AJCC 7th Ed.)|NCI|N|
C2982845|Vaginal cancer extending to the pelvic wall. Pelvic wall is defined as muscle, fascia, neurovascular structures, or skeletal portions of the bony pelvis. (from AJCC 7th Ed.)|NCI|N|
C2982846|Vaginal cancer invading the mucosa of the bladder or rectum and/or extending beyond the true pelvis (bullous edema is not sufficient evidence to classify a tumor as T4). (from AJCC 7th Ed.)|NCI|N|
C2982847|A pathologic finding about one or more characteristics of vaginal cancer, following the rules of the TNM AJCC v7 classification system as they pertain to staging of regional lymph nodes.|NCI|N|
C2982848|Vaginal cancer in which regional lymph nodes cannot be assessed. (from AJCC 7th Ed.)|NCI|N|
C2982849|Vaginal cancer without regional lymph node metastasis. (from AJCC 7th Ed.)|NCI|N|
C2982850|Vaginal cancer with pelvic or inguinal lymph node metastasis. (from AJCC 7th Ed.)|NCI|N|
C2982851|A pathologic finding about one or more characteristics of vaginal cancer, following the rules of the TNM AJCC v7 classification system as they pertain to distant metastases. There is no pathologic M0 for vaginal cancer.|NCI|N|
C2982852|Vaginal cancer with distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2982853|A clinical finding about one or more characteristics of vaginal cancer, following the rules of the TNM AJCC v7 classification system.|NCI|N|
C2982854|A clinical finding about one or more characteristics of vaginal cancer, following the rules of the TNM AJCC v7 classification system as they pertain to distant metastases.|NCI|N|
C2982855|Vaginal cancer without evidence of distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2982856|Vaginal cancer with distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2982857|A finding about one or more characteristics of cervical cancer, following the rules of the TNM AJCC v7 classification system.|NCI|N|
C2982858|A clinical finding about one or more characteristics of cervical cancer, following the rules of the TNM AJCC v7 classification system. Because many patients are treated by radiation and never undergo surgical-pathologic staging, clinical staging provides uniformity and is preferred. (from AJCC 7th Ed.)|NCI|N|
C2982859|A clinical finding about one or more characteristics of cervical cancer, following the rules of the TNM AJCC v7 classification system as they pertain to staging of the primary tumor.|NCI|N|
C2982860|Cervical cancer in which primary tumor cannot be assessed. (from AJCC 7th Ed.)|NCI|N|
C2982861|Cervical cancer with no evidence of primary tumor. (from AJCC 7th Ed.)|NCI|N|
C2982862|Cervical cancer with a finding of carcinoma in situ. (from AJCC 7th Ed.)|NCI|N|
C2982863|Cervical cancer confined to uterus (extension to corpus should be disregarded). (from AJCC 7th Ed.)|NCI|N|
C2982864|Cervical cancer with clinically visible lesion confined to the cervix. (from AJCC 7th Ed.)|NCI|N|
C2982865|Cervical cancer with clinically visible lesion 4.0 cm or less in greatest dimension confined to the cervix. (from AJCC 7th Ed.)|NCI|N|
C2982866|Invasive cervical cancer with clinically visible lesion more than 4.0 cm in greatest dimension confined to the cervix. (from AJCC 7th Ed.)|NCI|N|
C2982867|Cervical cancer invades beyond uterus but not to pelvic wall or to lower third of vagina. (from AJCC 7th Ed.)|NCI|N|
C2982868|Cervical cancer invades beyond uterus but not to pelvic wall or to lower third of vagina. There is no parametrial invasion. (from AJCC 7th Ed.)|NCI|N|
C2982869|Cervical cancer invades beyond uterus but not to pelvic wall or to lower third of vagina. There is no parametrial invasion. Clinically visible lesions 4.0 cm or less in greatest dimension are present. (from AJCC 7th Ed.)|NCI|N|
C2982870|Cervical cancer invades beyond uterus but not to pelvic wall or to lower third of vagina. There is no parametrial invasion. Clinically visible lesions more than 4.0 cm in greatest dimension are present. (from AJCC 7th Ed.)|NCI|N|
C2982871|Cervical cancer invades beyond uterus but not to pelvic wall or to lower third of vagina. Parametrial invasion is present. (from AJCC 7th Ed.)|NCI|N|
C2982872|Cervical cancer extends to pelvic wall and/or involves lower third of vagina, and/or causes hydronephrosis or nonfunctioning kidney. (from AJCC 7th Ed.)|NCI|N|
C2982873|Cervical cancer involves lower third of vagina, without extension to pelvic wall. (from AJCC 7th Ed.)|NCI|N|
C2982874|Cervical cancer extends to pelvic wall and/or causes hydronephrosis or nonfunctioning kidney. (from AJCC 7th Ed.)|NCI|N|
C2982875|Cervical cancer invades mucosa of bladder or rectum, and/or extends beyond true pelvis (bullous edema is not sufficient to classify a tumor as T4). (from AJCC 7th Ed.)|NCI|N|
C2982876|A clinical finding about one or more characteristics of cervical cancer, following the rules of the TNM AJCC v7 classification system as they pertain to staging of regional lymph nodes.|NCI|N|
C2982877|Cervical cancer in which regional lymph nodes cannot be assessed. (from AJCC 7th Ed.)|NCI|N|
C2982878|Cervical cancer with no regional lymph node metastasis. (from AJCC 7th Ed.)|NCI|N|
C2982879|Cervical cancer with regional lymph node metastasis. (from AJCC 7th Ed.)|NCI|N|
C2982880|A clinical finding about one or more characteristics of cervical cancer, following the rules of the TNM AJCC v7 classification system as they pertain to distant metastases.|NCI|N|
C2982881|Cervical cancer in which there is no evidence of distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2982882|Cervical cancer with distant metastasis (including peritoneal spread, involvement of supraclavicular, mediastinal, or paraaortic lymph nodes, lung, liver, or bone). (from AJCC 7th Ed.)|NCI|N|
C2982883|A pathologic finding about one or more characteristics of cervical cancer, following the rules of the TNM AJCC v7 classification system. TNM pathologic findings are based on clinical findings supplemented by histopathologic examination of one or more tissue specimens acquired during surgery.|NCI|N|
C2982884|A pathologic finding about one or more characteristics of cervical cancer, following the rules of the TNM AJCC v7 classification system as they pertain to staging of the primary tumor.|NCI|N|
C2982899|Cervical cancer in which primary tumor cannot be assessed. (from AJCC 7th Ed.)|NCI|N|
C2982900|Cervical cancer with no evidence of primary tumor. (from AJCC 7th Ed.)|NCI|N|
C2982901|Cervical cancer with a finding of carcinoma in situ (preinvasive carcinoma). Note: FIGO no longer includes Stage 0 (Tis) (from AJCC 7th Ed.)|NCI|N|
C2982902|Cervical cancer confined to uterus (extension to corpus should be disregarded). (from AJCC 7th Ed.)|NCI|N|
C2982903|Invasive cervical cancer diagnosed only by microscopy. Stromal invasion with a maximum depth of 5.0 mm measured from the base of the epithelium and a horizontal spread of 7.0 mm or less. Vascular space involvement, venous or lymphatic, does not affect classification. (from AJCC 7th Ed.)|NCI|N|
C2982904|Invasive cervical cancer with measured stromal invasion 3.0 mm or less in depth and 7.0 mm or less in horizontal spread. (from AJCC 7th Ed.)|NCI|N|
C2982906|Invasive cervical cancer with measured stromal invasion more than 3.0 mm and not more than 5.0 mm with a horizontal spread 7.0 mm or less. (from AJCC 7th Ed.)|NCI|N|
C2982907|Cervical cancer with microscopic lesion greater than T1a/IA2. (from AJCC 7th Ed.)|NCI|N|
C2982909|Cervical cancer with clinically visible lesion 4.0 cm or less in greatest dimension confined to the cervix. (from AJCC 7th Ed.)|NCI|N|
C2982910|Invasive cervical cancer with clinically visible lesion more than 4.0 cm in greatest dimension confined to the cervix. (from AJCC 7th Ed.)|NCI|N|
C2982911|Cervical cancer invades beyond uterus but not to pelvic wall or to lower third of vagina. (from AJCC 7th Ed.)|NCI|N|
C2982912|Cervical cancer invades beyond uterus but not to pelvic wall or to lower third of vagina. There is no parametrial invasion. (from AJCC 7th Ed.)|NCI|N|
C2982913|Cervical cancer invades beyond uterus but not to pelvic wall or to lower third of vagina. There is no parametrial invasion. Clinically visible lesions 4.0 cm or less in greatest dimension are present. (from AJCC 7th Ed.)|NCI|N|
C2982914|Cervical cancer invades beyond uterus but not to pelvic wall or to lower third of vagina. There is no parametrial invasion. Clinically visible lesions more than 4.0 cm in greatest dimension are present. (from AJCC 7th Ed.)|NCI|N|
C2982915|Cervical cancer invades beyond uterus but not to pelvic wall or to lower third of vagina. Parametrial invasion is present. (from AJCC 7th Ed.)|NCI|N|
C2982916|Stage II includes: IIA (T1, N1, M0) and IIB (T2, N1, M0) or (T3, N0, M0). T1: Tumor is 3 cm or less in greatest dimension, surrounded by lung or visceral pleura, and without bronchoscopic evidence of invasion more proximal than the lobar bronchus. T2: Tumor has any of the following features of size or extent: more than 3 cm in greatest dimension; involves the main bronchus, 2 cm or more distal to the carina; invades the visceral pleura; associated with atelectasis or obstructive pneumonitis that extends to the hilar region but does not involve the entire lung. T3: Tumor (of any size) directly invades any of the following: chest wall (including superior sulcus tumors), diaphragm, mediastinal pleura, parietal pericardium; or tumor in the main bronchus less than 2 cm distal to the carina but without involvement of the carina; or associated atelectasis or obstructive pneumonitis of the entire lung. N0: No regional lymph node metastasis. N1: Metastasis to ipsilateral peribronchial and/or ipsilateral hilar lymph nodes, and intrapulmonary nodes including involvement by direct extension of the primary tumor. M0: No distant metastasis. (AJCC 6th ed.)|NCI|N|
C2982917|Cervical cancer extends to pelvic wall and/or involves lower third of vagina, and/or causes hydronephrosis or nonfunctioning kidney. (from AJCC 7th Ed.)|NCI|N|
C2982918|Cervical cancer involves lower third of vagina, without extension to pelvic wall. (from AJCC 7th Ed.)|NCI|N|
C2982919|Cervical cancer extends to pelvic wall and/or causes hydronephrosis or nonfunctioning kidney. (from AJCC 7th Ed.)|NCI|N|
C2982920|Cervical cancer invades mucosa of bladder or rectum, and/or extends beyond true pelvis (bullous edema is not sufficient to classify a tumor as T4). (from AJCC 7th Ed.)|NCI|N|
C2982921|A pathologic finding about one or more characteristics of cervical cancer, following the rules of the TNM AJCC v7 classification system as they pertain to staging of regional lymph nodes.|NCI|N|
C2982922|Cervical cancer in which regional lymph nodes cannot be assessed. (from AJCC 7th Ed.)|NCI|N|
C2982923|Cervical cancer with no regional lymph node metastasis. (from AJCC 7th Ed.)|NCI|N|
C2982924|Cervical cancer with regional lymph node metastasis. (from AJCC 7th Ed.)|NCI|N|
C2982925|A pathologic finding about one or more characteristics of cervical cancer, following the rules of the TNM AJCC v7 classification system as they pertain to distant metastases. There is no pathologic M0 for cervical cancer. (from AJCC 7th Ed.)|NCI|N|
C2982926|Cervical cancer with distant metastasis (including peritoneal spread, involvement of supraclavicular, mediastinal, or paraaortic lymph nodes, lung, liver, or bone). (from AJCC 7th Ed.)|NCI|N|
C2982927|A finding about one or more characteristics of uterine corpus cancer, following the rules of the TNM AJCC v7 classification system. The TNM findings for uterine corpus carcinomas and sarcomas are not the same. (from AJCC 7th Ed.)|NCI|N|
C2982928|A finding about one or more characteristics of uterine corpus carcinoma, following the rules of the TNM AJCC v7 classification system. Carcinosarcomas should be staged as carcinoma. (from AJCC 7th Ed.)|NCI|N|
C2982929|A pathologic finding about one or more characteristics of uterine corpus carcinoma, following the rules of the TNM AJCC v7 classification system. TNM pathologic findings are based on clinical findings supplemented by histopathologic examination of one or more tissue specimens acquired during surgery.|NCI|N|
C2982930|A pathologic finding about one or more characteristics of uterine corpus carcinoma, following the rules of the TNM AJCC v7 classification system as they pertain to staging of the primary tumor. TNM pathologic primary tumor findings are based on clinical findings supplemented by histopathologic examination of one or more tissue specimens acquired during surgery.|NCI|N|
C2982931|Uterine corpus carcinoma in which primary tumor cannot be assessed. (from AJCC 7th Ed.)|NCI|N|
C2982932|Uterine corpus carcinoma in which there is no evidence of a primary tumor. (from AJCC 7th Ed.)|NCI|N|
C2982933|Uterine corpus carcinoma with a finding of carcinoma in situ (preinvasive carcinoma). FIGO no longer includes Stage 0 (Tis). (from AJCC 7th Ed.)|NCI|N|
C2982934|Uterine corpus carcinoma with tumor confined to uterine corpus. (from AJCC 7th Ed.)|NCI|N|
C2982935|Uterine corpus carcinoma with tumor limited to endometrium or invading less than one-half of the myometrium. (from AJCC 7th Ed.)|NCI|N|
C2982936|Uterine corpus carcinoma with tumor invading one-half or more of the myometrium. (from AJCC 7th Ed.)|NCI|N|
C2982937|Uterine corpus carcinoma that invades stromal connective tissue of the cervix but does not extend beyond uterus. Endocervical glandular involvement only should be considered as Stage I and not as Stage II. (from AJCC 7th Ed.)|NCI|N|
C2982938|Uterine corpus carcinoma that involves serosa and/or adnexa, vagina, or parametrial tissue. (from AJCC 7th Ed.)|NCI|N|
C2982939|Uterine corpus carcinoma that involves serosa and/or adnexa (direct extension or metastasis). (from AJCC 7th Ed.)|NCI|N|
C2982940|Uterine corpus carcinoma that involves vagina or parametrial tissue. (from AJCC 7th Ed.)|NCI|N|
C2982941|Uterine corpus carcinoma that invades bladder mucosa and/or bowel mucosa (bullous edema is not sufficient to classify a tumor as T4). (from AJCC 7th Ed.)|NCI|N|
C2982942|A pathologic finding about one or more characteristics of uterine corpus carcinoma, following the rules of the TNM AJCC v7 classification system as they pertain to staging of regional lymph nodes. TNM pathologic regional lymph nodes findings are based on clinical findings supplemented by histopathologic examination of one or more tissue specimens acquired during surgery.|NCI|N|
C2982943|Uterine corpus carcinoma in which regional lymph nodes cannot be assessed. (from AJCC 7th Ed.)|NCI|N|
C2982944|Uterine corpus carcinoma with no evidence of regional lymph node metastasis. (from AJCC 7th Ed.)|NCI|N|
C2982945|Uterine corpus carcinoma with regional lymph node metastasis to pelvic lymph nodes. (from AJCC 7th Ed.)|NCI|N|
C2982946|Uterine corpus carcinoma with regional lymph node metastasis to para-aortic lymph nodes, with or without positive pelvic lymph nodes. (from AJCC 7th Ed.)|NCI|N|
C2982947|A pathologic finding about one or more characteristics of uterine corpus carcinoma, following the rules of the TNM AJCC v7 classification system as they pertain to distant metastases. There is no pathologic M0 for uterine corpus carcinoma. (from AJCC 7th Ed.)|NCI|N|
C2982948|Uterine corpus carcinoma with distant metastasis (includes metastasis to inguinal lymph nodes intraperitoneal disease, or lung, liver, or bone. It excludes metastasis to para-aortic lymph nodes, vagina, pelvic serosa, or adnexa). (from AJCC 7th Ed.)|NCI|N|
C2982949|A clinical finding about one or more characteristics of uterine corpus carcinoma, following the rules of the TNM AJCC v7 classification system. TNM clinical findings are based on information obtained prior to the first definitive treatment through physical examination, diagnostic imaging, biopsy and laboratory testing.|NCI|N|
C2982950|A clinical finding about one or more characteristics of uterine corpus carcinoma, following the rules of the TNM AJCC v7 classification system as they pertain to distant metastases. (from AJCC 7th Ed.)|NCI|N|
C2982951|Uterine corpus carcinoma with no distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2982952|Uterine corpus carcinoma with distant metastasis (includes metastasis to inguinal lymph nodes intraperitoneal disease, or lung, liver, or bone. It excludes metastasis to para-aortic lymph nodes, vagina, pelvic serosa, or adnexa). (from AJCC 7th Ed.)|NCI|N|
C2982954|A finding about one or more characteristics of uterine corpus sarcoma, following the rules of the TNM AJCC v7 classification system. It applies to leiomyosarcoma, endometrial stromal sarcoma, and adenosarcoma. (from AJCC 7th Ed.)|NCI|N|
C2982955|A finding about one or more characteristics of leiomyosarcoma and endometrial stromal sarcoma, following the rules of the TNM AJCC v7 classification system.|NCI|N|
C2982956|A pathologic finding about one or more characteristics of leiomyosarcoma and endometrial stromal sarcoma, following the rules of the TNM AJCC v7 classification system.|NCI|N|
C2982957|A pathologic finding about one or more characteristics of leiomyosarcoma and endometrial stromal sarcoma, following the rules of the TNM AJCC v7 classification system as they pertain to staging of the primary tumor.|NCI|N|
C2982958|Primary tumor cannot be assessed. (from AJCC 7th Ed.)|NCI|N|
C2982959|No evidence of primary tumor. (from AJCC 7th Ed.)|NCI|N|
C2982960|Tumor limited to the uterus. (from AJCC 7th Ed.)|NCI|N|
C2982961|Tumor 5 cm or less in greatest dimension. (from AJCC 7th Ed.)|NCI|N|
C2982962|Tumor more than 5 cm in greatest dimension. (from AJCC 7th Ed.)|NCI|N|
C2982963|Tumor extends beyond the uterus, within the pelvis. (from AJCC 7th Ed.)|NCI|N|
C2982964|Stage IV includes: (T4, Any N, M0); (Any T, N3, M0); (Any T, Any N, M1). T4: Tumor invades other adjacent structures. N3: Metastasis in deep inguinal or pelvic lymph node(s) unilateral or bilateral. M1: Distant metastasis. (AJCC 6th ed.)|NCI|N|
C2982965|Tumor involves adnexa. (from AJCC 7th Ed.)|NCI|N|
C2982966|Tumor involves other pelvic tissues. (from AJCC 7th Ed.)|NCI|N|
C2982967|Tumor infiltrates abdominal tissues. (from AJCC 7th Ed.)|NCI|N|
C2982968|Tumor infiltrates abdominal tissues, one site. (from AJCC 7th Ed.)|NCI|N|
C2982969|Tumor infiltrates abdominal tissues, more than one site. (from AJCC 7th Ed.)|NCI|N|
C2982970|Tumor invades bladder or rectum. (from AJCC 7th Ed.)|NCI|N|
C2982971|A pathologic finding about one or more characteristics of leiomyosarcoma and endometrial stromal sarcoma, following the rules of the TNM AJCC v7 classification system as they pertain to staging of the regional lymph nodes.|NCI|N|
C2982972|Regional lymph nodes cannot be assessed. (from AJCC 7th Ed.)|NCI|N|
C2982973|No regional lymph node metastasis. (from AJCC 7th Ed.)|NCI|N|
C2982974|Regional lymph node metastasis. (from AJCC 7th Ed.)|NCI|N|
C2982975|A pathologic finding about one or more characteristics of leiomyosarcoma and endometrial stromal sarcoma, following the rules of the TNM AJCC v7 classification system as they pertain to distant metastases. There is no pathologic M0. (from AJCC 7th Ed.)|NCI|N|
C2982976|Distant metastasis (excluding adnexa, pelvic and abdominal tissues). (from AJCC 7th Ed.)|NCI|N|
C2982977|A clinical finding about one or more characteristics of leiomyosarcoma and endometrial stromal sarcoma, following the rules of the TNM AJCC v7 classification system.|NCI|N|
C2982978|A clinical finding about one or more characteristics of leiomyosarcoma and endometrial stromal sarcoma, following the rules of the TNM AJCC v7 classification system as they pertain to distant metastases. (from AJCC 7th Ed.)|NCI|N|
C2982979|No distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2982980|Distant metastasis (excluding adnexa, pelvic and abdominal tissues). (from AJCC 7th Ed.)|NCI|N|
C2982981|A finding about one or more characteristics of adenosarcoma, following the rules of the TNM AJCC v7 classification system.|NCI|N|
C2982982|A pathologic finding about one or more characteristics of adenosarcoma, following the rules of the TNM AJCC v7 classification system.|NCI|N|
C2982983|A pathologic finding about one or more characteristics of adenosarcoma, following the rules of the TNM AJCC v7 classification system as they pertain to staging of the primary tumor.|NCI|N|
C2982984|Primary tumor cannot be assessed. (from AJCC 7th Ed.)|NCI|N|
C2982985|No evidence of primary tumor. (from AJCC 7th Ed.)|NCI|N|
C2982986|Tumor limited to the uterus. (from AJCC 7th Ed.)|NCI|N|
C2982987|Tumor limited to endometrium/endocervix. (from AJCC 7th Ed.)|NCI|N|
C2982988|Tumor invades to less than half of the myometrium. (from AJCC 7th Ed.)|NCI|N|
C2982989|Tumor invades more than half of the myometrium. (from AJCC 7th Ed.)|NCI|N|
C2982990|Tumor extends beyond the uterus, within the pelvis. (from AJCC 7th Ed.)|NCI|N|
C2982991|Tumor involves adnexa. (from AJCC 7th Ed.)|NCI|N|
C2982992|Tumor involves other pelvic tissues. (from AJCC 7th Ed.)|NCI|N|
C2982993|Tumor involves abdominal tissues. (from AJCC 7th Ed.)|NCI|N|
C2982994|Tumor involves abdominal tissues, one site. (from AJCC 7th Ed.)|NCI|N|
C2982995|Tumor invades abdominal tissues, more than one site. (from AJCC 7th Ed.)|NCI|N|
C2982996|Tumor invades bladder or rectum. (from AJCC 7th Ed.)|NCI|N|
C2982997|A pathologic finding about one or more characteristics of adenosarcoma, following the rules of the TNM AJCC v7 classification system as they pertain to staging of the regional lymph nodes.|NCI|N|
C2982998|Regional lymph nodes cannot be assessed. (from AJCC 7th Ed.)|NCI|N|
C2982999|No regional lymph node metastasis. (from AJCC 7th Ed.)|NCI|N|
C2983000|Regional lymph node metastasis. (from AJCC 7th Ed.)|NCI|N|
C2983001|A pathologic finding about one or more characteristics of adenosarcoma, following the rules of the TNM AJCC v7 classification system as they pertain to distant metastases. There is no pathologic M0. (from AJCC 7th Ed.)|NCI|N|
C2983002|Distant metastasis (excluding adnexa, pelvic and abdominal tissues). (from AJCC 7th Ed.)|NCI|N|
C2983003|A clinical finding about one or more characteristics of adenosarcoma, following the rules of the TNM AJCC v7 classification system.|NCI|N|
C2983004|A clinical finding about one or more characteristics of adenosarcoma, following the rules of the TNM AJCC v7 classification system as they pertain to distant metastases. (from AJCC 7th Ed.)|NCI|N|
C2983005|No distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2983006|Distant metastasis (excluding adnexa, pelvic and abdominal tissues). (from AJCC 7th Ed.)|NCI|N|
C2983007|Stage 0 includes: Tis, N0, M0. Tis: Carcinoma in situ. N0: No regional lymph node metastasis. M0: No distant metastasis. This staging applies to carcinomas and carcinosarcomas. FIGO no longer includes Stage 0 (Tis). (AJCC 7th ed.)|NCI|N|
C2983008|Stage I includes: I (T1, N0, M0); IA: (T1a, N0, M0); IB (T1b, N0, M0). T1: Tumor confined to corpus uteri. T1a: Tumor limited to the endometrium or invades less than one-half of the myometrium. T1b: Tumor invades one-half or more of the myometrium. N0: No regional lymph node metastasis. M0: No distant metastasis. This staging applies to carcinomas and carcinosarcomas. (AJCC 7th ed.)|NCI|N|
C2983009|Stage II includes: T2, N0, M0. T2: Tumor invades stromal connective tissue of the cervix but does not extend beyond uterus. Endocervical glandular involvement only should be considered as Stage I and not as Stage II. N0: No regional lymph node metastasis. M0: No distant metastasis. This staging applies to carcinomas and carcinosarcomas. (AJCC 7th ed.)|NCI|N|
C2983010|Stage III includes: III (T3, N0, M0); IIIA (T3a, N0, M0); IIIB (T3b, N0, M0); IIIC (T1-T3, N1/N2, M0); IIIC1 (T1-T3, N1, M0); IIIC2 (T1-T3, N2, M0). T3: Tumor involves serosa and/or adnexa, vagina, or parametrial tissue. T3a: Tumor involves serosa and/or adnexa (direct extension or metastasis). T3b: Tumor involves vagina (direct extension or metastasis) or parametrial tissue. N0: No regional lymph node metastasis. N1: Regional lymph node metastasis to pelvic lymph nodes. N2: Regional lymph node metastasis to para-aortic lymph nodes, with or without positive pelvic lymph nodes. M0: No distant metastasis. This staging applies to carcinomas and carcinosarcomas. (AJCC 7th ed.)|NCI|N|
C2983011|Stage IV includes: IVA: (T4, Any N, M0); IVB: (Any T, Any N, M1). T4: Tumor invades bladder mucosa and/or bowel mucosa (bullous edema is not sufficient to classify a tumor as T4). M0: No distant metastasis. M1: Distant metastasis (includes metastasis to inguinal lymph nodes, intraperitoneal disease, or lung, liver, or bone. It excludes metastasis to para-aortic lymph nodes, vagina, pelvic serosa, or adnexa). This staging applies to carcinomas and carcinosarcomas. (AJCC 7th ed.)|NCI|N|
C2983012|A finding about one or more characteristics of ovarian cancer or primary peritoneal carcinoma, following the rules of the TNM AJCC v7 classification system. Ovarian cancer and primary peritoneal carcinoma are surgically/pathologically staged malignancies. (from AJCC 7th Ed.)|NCI|N|
C2983013|A pathologic finding about one or more characteristics of ovarian cancer or primary peritoneal carcinoma, following the rules of the TNM AJCC v7 classification system.|NCI|N|
C2983014|A pathologic finding about one or more characteristics of ovarian cancer or primary peritoneal carcinoma, following the rules of the TNM AJCC v7 classification system as they pertain to staging of the primary tumor.|NCI|N|
C2983015|Ovarian cancer or primary peritoneal carcinoma in which the primary tumor cannot be assessed. (from AJCC 7th Ed.)|NCI|N|
C2983016|Ovarian cancer or primary peritoneal carcinoma with no evidence of primary tumor. (from AJCC 7th Ed.)|NCI|N|
C2983017|Ovarian cancer limited to ovaries (one or both). (from AJCC 7th Ed.)|NCI|N|
C2983018|Ovarian cancer limited to one ovary; capsule intact, no tumor on ovarian surface. No malignant cells in ascites or peritoneal washings. (from AJCC 7th Ed.)|NCI|N|
C2983019|Ovarian cancer limited to both ovaries; capsule intact, no tumor on ovarian surface. No malignant cells in ascites or peritoneal washings. (from AJCC 7th Ed.)|NCI|N|
C2983020|Ovarian cancer or primary peritoneal carcinoma limited to one or both ovaries with any of the following: capsule ruptured, tumor on ovarian surface, malignant cells in ascites or peritoneal washings. (from AJCC 7th Ed.)|NCI|N|
C2983021|Ovarian cancer or primary peritoneal carcinoma involving one or both ovaries with pelvic extension. (from AJCC 7th Ed.)|NCI|N|
C2983022|Ovarian cancer or primary peritoneal carcinoma with extension and/or implants on uterus and/or tube(s). No malignant cells in ascites or peritoneal washings. (from AJCC 7th Ed.)|NCI|N|
C2983023|Ovarian cancer or primary peritoneal carcinoma with extension to and/or implants on other pelvic tissues. No malignant cells in ascites or peritoneal washings. (from AJCC 7th Ed.)|NCI|N|
C2983024|Ovarian cancer or primary peritoneal carcinoma with pelvic extension and/or implants (T2a or T2b) with malignant cells in ascites or peritoneal washings. (from AJCC 7th Ed.)|NCI|N|
C2983025|Ovarian cancer or primary peritoneal carcinoma involving one or both ovaries with microscopically confirmed peritoneal metastasis outside the pelvis. (from AJCC 7th Ed.)|NCI|N|
C2983026|Ovarian cancer or primary peritoneal carcinoma with microscopic peritoneal metastasis beyond pelvis (no macroscopic tumor). (from AJCC 7th Ed.)|NCI|N|
C2983027|Ovarian cancer or primary peritoneal carcinoma with macroscopic peritoneal metastasis beyond pelvis 2 cm or less in greatest dimension. (from AJCC 7th Ed.)|NCI|N|
C2983028|Ovarian cancer or primary peritoneal carcinoma with peritoneal metastasis beyond pelvis more than 2 cm in greatest dimension and/or regional lymph node metastasis. (from AJCC 7th Ed.)|NCI|N|
C2983029|A pathologic finding about one or more characteristics of ovarian cancer or primary peritoneal carcinoma, following the rules of the TNM AJCC v7 classification system as they pertain to staging of regional lymph nodes.|NCI|N|
C2983030|Ovarian cancer or primary peritoneal carcinoma in which regional lymph nodes cannot be assessed. (from AJCC 7th Ed.)|NCI|N|
C2983031|Ovarian cancer or primary peritoneal carcinoma without regional lymph node metastasis. (from AJCC 7th Ed.)|NCI|N|
C2983032|Ovarian cancer or primary peritoneal carcinoma with regional lymph node metastasis. (from AJCC 7th Ed.)|NCI|N|
C2983033|A pathologic finding about one or more characteristics of ovarian cancer or primary peritoneal carcinoma, following the rules of the TNM AJCC v7 classification system as they pertain to distant metastases. There is no pathologic M0 for ovarian cancer or primary peritoneal carcinoma.|NCI|N|
C2983034|Ovarian cancer or primary peritoneal carcinoma with distant metastasis (excludes peritoneal metastasis). (from AJCC 7th Ed.)|NCI|N|
C2983035|A clinical finding about one or more characteristics of ovarian cancer or primary peritoneal carcinoma, following the rules of the TNM AJCC v7 classification system.|NCI|N|
C2983036|A clinical finding about one or more characteristics of ovarian cancer or primary peritoneal carcinoma, following the rules of the TNM AJCC v7 classification system as they pertain to distant metastases.|NCI|N|
C2983037|Ovarian cancer or primary peritoneal carcinoma without evidence of distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2983038|Ovarian cancer or primary peritoneal carcinoma with distant metastasis (excludes peritoneal metastasis). (from AJCC 7th Ed.)|NCI|N|
C2983039|A finding about one or more characteristics of fallopian tube cancer, following the rules of the TNM AJCC v7 classification system. Histologic confirmation of primary disease with complete evaluation of the abdomen and pelvis is required. (from AJCC 7th Ed.)|NCI|N|
C2983040|A pathologic finding about one or more characteristics of fallopian tube cancer, following the rules of the TNM AJCC v7 classification system.|NCI|N|
C2983041|A pathologic finding about one or more characteristics of fallopian tube cancer, following the rules of the TNM AJCC v7 classification system as they pertain to staging of the primary tumor.|NCI|N|
C2983042|Fallopian tube cancer in which the primary tumor cannot be assessed. (from AJCC 7th Ed.)|NCI|N|
C2983043|Fallopian tube cancer with no evidence of primary tumor. (from AJCC 7th Ed.)|NCI|N|
C2983044|Fallopian tube cancer with a finding of carcinoma in situ (limited to tubal mucosa). (from AJCC 7th Ed.)|NCI|N|
C2983045|Fallopian tube cancer limited to fallopian tube(s). (from AJCC 7th Ed.)|NCI|N|
C2983046|Fallopian tube cancer with tumor limited to one tube, without penetrating the serosal surface; no ascites. (from AJCC 7th Ed.)|NCI|N|
C2983047|Fallopian tube cancer with tumor limited to both tubes, without penetrating the serosal surface; no ascites. (from AJCC 7th Ed.)|NCI|N|
C2983048|Fallopian tube cancer with tumor limited to one or both tubes with extension onto or through the tubal serosa, or with malignant cells in ascites or peritoneal washings. (from AJCC 7th Ed.)|NCI|N|
C2983049|Fallopian tube cancer with tumor involving one or both fallopian tubes with pelvic extension. (from AJCC 7th Ed.)|NCI|N|
C2983050|Fallopian tube cancer with extension and/or metastasis to the uterus and/or ovaries. (from AJCC 7th Ed.)|NCI|N|
C2983051|Fallopian tube cancer with extension to other pelvic structures. (from AJCC 7th Ed.)|NCI|N|
C2983052|Fallopian tube cancer with pelvic extension and malignant cells in ascites or peritoneal washings. (from AJCC 7th Ed.)|NCI|N|
C2983053|Fallopian tube cancer with tumor involving one or both fallopian tubes, with peritoneal implants outside the pelvis. (from AJCC 7th Ed.)|NCI|N|
C2983054|Fallopian tube cancer with microscopic peritoneal metastasis outside the pelvis. (from AJCC 7th Ed.)|NCI|N|
C2983055|Fallopian tube cancer with macroscopic peritoneal metastasis outside the pelvis 2 cm or less in greatest dimension. (from AJCC 7th Ed.)|NCI|N|
C2983056|Fallopian tube cancer with peritoneal metastasis outside the pelvis and more than 2 cm in diameter. (from AJCC 7th Ed.)|NCI|N|
C2983057|A pathologic finding about one or more characteristics of fallopian tube cancer, following the rules of the TNM AJCC v7 classification system as they pertain to staging of regional lymph nodes.|NCI|N|
C2983058|Fallopian tube cancer in which regional lymph nodes cannot be assessed. (from AJCC 7th Ed.)|NCI|N|
C2983059|Fallopian tube cancer without regional lymph node metastasis. (from AJCC 7th Ed.)|NCI|N|
C2983060|Fallopian tube cancer with regional lymph node metastasis. (from AJCC 7th Ed.)|NCI|N|
C2983061|A pathologic finding about one or more characteristics of fallopian tube cancer, following the rules of the TNM AJCC v7 classification system as they pertain to distant metastases. There is no pathologic M0 for fallopian tube cancer.|NCI|N|
C2983062|Fallopian tube cancer with distant metastasis (excluding metastasis within the peritoneal cavity). (from AJCC 7th Ed.)|NCI|N|
C2983063|A clinical finding about one or more characteristics of fallopian tube cancer, following the rules of the TNM AJCC v7 classification system.|NCI|N|
C2983064|A clinical finding about one or more characteristics of fallopian tube cancer, following the rules of the TNM AJCC v7 classification system as they pertain to distant metastases.|NCI|N|
C2983065|Fallopian tube cancer without evidence of distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2983066|Fallopian tube cancer with distant metastasis (excluding metastasis within the peritoneal cavity). (from AJCC 7th Ed.)|NCI|N|
C2983067|A finding about one or more characteristics of gestational trophoblastic tumor, following the rules of the TNM AJCC v7 classification system.|NCI|N|
C2983068|A pathologic finding about one or more characteristics of gestational trophoblastic tumor, following the rules of the TNM AJCC v7 classification system.|NCI|N|
C2983069|A pathologic finding about one or more characteristics of gestational trophoblastic tumor, following the rules of the TNM AJCC v7 classification system as they pertain to staging of the primary tumor.|NCI|N|
C2983070|Gestational trophoblastic tumor in which the primary tumor cannot be assessed. (from AJCC 7th Ed.)|NCI|N|
C2983071|Gestational trophoblastic tumor with no evidence of primary tumor. (from AJCC 7th Ed.)|NCI|N|
C2983072|Gestational trophoblastic tumor confined to uterus. (from AJCC 7th Ed.)|NCI|N|
C2983073|Gestational trophoblastic tumor extending to other genital structures (ovary, tube, vagina, broad ligaments) by metastasis or direct extension. (from AJCC 7th Ed.)|NCI|N|
C2983074|A pathologic finding about one or more characteristics of gestational trophoblastic tumor, following the rules of the TNM AJCC v7 classification system as they pertain to distant metastases. There is no pathologic M0 for gestational trophoblastic tumor.|NCI|N|
C2983075|Gestational trophoblastic tumor with distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2983076|Gestational trophoblastic tumor with lung metastasis. (from AJCC 7th Ed.)|NCI|N|
C2983077|Gestational trophoblastic tumor with all other distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2983078|A clinical finding about one or more characteristics of gestational trophoblastic tumor, following the rules of the TNM AJCC v7 classification system.|NCI|N|
C2983079|A clinical finding about one or more characteristics of gestational trophoblastic tumor, following the rules of the TNM AJCC v7 classification system as they pertain to distant metastases.|NCI|N|
C2983080|Gestational trophoblastic tumor without evidence of distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2983081|Gestational trophoblastic tumor with distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2983082|Gestational trophoblastic tumor with lung metastasis. (from AJCC 7th Ed.)|NCI|N|
C2983083|Gestational trophoblastic tumor with all other distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2983084|A finding about one or more characteristics of digestive system cancer, following the rules of the TNM AJCC v7 classification system.|NCI|N|
C2983087|A somatic mutation of the GNAQ gene which encodes guanine nucleotide-binding protein G(q) subunit alpha.|NCI|N|
C2983088|A somatic mutation of the GNA11 gene which encodes guanine nucleotide-binding protein subunit alpha-11.|NCI|N|
C2983091|A finding about one or more characteristics of esophagus and esophagogastric junction cancer, following the rules of the TNM AJCC v7 classification system. Tumor location is simplified, and esophagogastric junction and proximal 5 cm of stomach are included in this classification. Nonmucosal cancers are not included. (from AJCC 7th Ed.)|NCI|N|
C2983092|A pathologic finding about one or more characteristics of esophagus and esophagogastric junction cancer, following the rules of the TNM AJCC v7 classification system. The pathologic classification uses evidence acquired before treatment, supplemented or modified by additional evidence acquired during and from surgery, particularly from pathologic evaluation of the surgical specimen. Pathologic reclassification during and following surgery that has been preceded by chemotherapy and/or radiotherapy is designated by the prefix yp. (from AJCC 7th Ed.)|NCI|N|
C2983095|A pathologic finding about one or more characteristics of esophagus and esophagogastric junction cancer, following the rules of the TNM AJCC v7 classification system as they pertain to staging of the primary tumor.|NCI|N|
C2983096|Esophagus and esophagogastric junction cancer in which the primary tumor cannot be assessed. (from AJCC 7th Ed.)|NCI|N|
C2983097|Esophagus and esophagogastric junction cancer with no evidence of a primary tumor. (from AJCC 7th Ed.)|NCI|N|
C2983098|Esophagus and esophagogastric junction cancer with a finding of high-grade dysplasia. High-grade dysplasia includes all noninvasive neoplastic epithelia that was formerly called carcinoma in situ, a diagnosis that is no longer used for columnar mucosae anywhere in the gastrointestinal tract. (from AJCC 7th Ed.)|NCI|N|
C2983099|Esophagus and esophagogastric junction cancer with tumor invading lamina propria, muscularis mucosae, or submucosa. (from AJCC 7th Ed.)|NCI|N|
C2983101|Esophagus and esophagogastric junction cancer with tumor invading lamina propria or muscularis mucosae. (from AJCC 7th Ed.)|NCI|N|
C2983102|Esophagus and esophagogastric junction cancer with tumor invading submucosa. (from AJCC 7th Ed.)|NCI|N|
C2983103|Esophagus and esophagogastric junction cancer with tumor invading muscularis propria. (from AJCC 7th Ed.)|NCI|N|
C2983104|Esophagus and esophagogastric junction cancer with tumor invading adventitia. (from AJCC 7th Ed.)|NCI|N|
C2983105|Esophagus and esophagogastric junction cancer with tumor invading adjacent structures. (from AJCC 7th Ed.)|NCI|N|
C2983106|Esophagus and esophagogastric junction cancer with resectable tumor invading pleura, pericardium, or diaphragm. (from AJCC 7th Ed.)|NCI|N|
C2983107|Esophagus and esophagogastric junction cancer with unresectable tumor invading other adjacent structures, such as aorta, vertebral body, trachea, etc. (from AJCC 7th Ed.)|NCI|N|
C2983108|A pathologic finding about one or more characteristics of esophagus and esophagogastric junction cancer, following the rules of the TNM AJCC v7 classification system as they pertain to staging of regional lymph nodes.|NCI|N|
C2983109|Esophagus and esophagogastric junction cancer in which the regional lymph nodes cannot be assessed. (from AJCC 7th Ed.)|NCI|N|
C2983110|Esophagus and esophagogastric junction cancer with no metastasis to regional lymph nodes. (from AJCC 7th Ed.)|NCI|N|
C2983111|Esophagus and esophagogastric junction cancer with metastasis in 1-2 regional lymph nodes. (from AJCC 7th Ed.)|NCI|N|
C2983112|Esophagus and esophagogastric junction cancer with metastasis in 3-6 regional lymph nodes. (from AJCC 7th Ed.)|NCI|N|
C2983113|Esophagus and esophagogastric junction cancer with metastasis in seven or more lymph nodes. (from AJCC 7th Ed.)|NCI|N|
C2983114|A pathologic finding about one or more characteristics of esophagus and esophagogastric junction cancer, following the rules of the TNM AJCC v7 classification system as they pertain to distant metastases. There is no pathologic M0 for esophagus and esophagogastric junction cancer.|NCI|N|
C2983115|Esophagus and esophagogastric junction cancer with distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2983116|A clinical finding about one or more characteristics of esophagus and esophagogastric junction cancer, following the rules of the TNM AJCC v7 classification system. Clinical classification is based on evidence before primary treatment. It involves esophagoscopy with biopsy, endoscopic esophageal ultrasound (EUS), EUS-directed fine-needle aspiration (EUS-FNA), fused computed tomography (CT), PET/CT for assessment of T, N, M, and G classifications, and histopathologic type. Clinical reclassification during or following chemotherapy and/or radiotherapy is designated by the prefix yc. (from AJCC 7th Ed.)|NCI|N|
C2983117|A clinical finding about one or more characteristics of esophagus and esophagogastric junction cancer, following the rules of the TNM AJCC v7 classification system as they pertain to distant metastases.|NCI|N|
C2983118|Esophagus and esophagogastric junction cancer without evidence of distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2983119|Esophagus and esophagogastric junction cancer with distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2983132|Any type of genetic recombination involving rearrangement of segments of DNA within a single chromosome, such that a segment of the chromosome is reversed from the original orientation. Chromosomal inversion often occurs as the result of non-homologous end-joining of broken DNA strands, and is involved in maintaining cell viability at the expense of long term genomic stability. This process may be involved in infertility.|NCI|N|
C2983135|Any DNA sequence alteration process occurring in a tumor suppressor gene, resulting in loss of function of the gene product, and predisposing the cell to neoplastic transformation. Tumor suppressor genes are ordinarily involved in repressing cell cycle or promoting apoptosis. Inactivation of such genes permits growth inappropriately, and is an important step in the process of cellular transformation.|NCI|N|
C2983137|A carcinoma that originates from the colonic wall and has spread to the lungs.|NCI|N|
C2983138|A finding about one or more characteristics of gastric cancer, following the rules of the TNM AJCC v7 classification system. Tumors arising at the esophagogastric junction, or arising in the stomach in a distance equal or less than 5 cm from the esophagogastric junction and crossing the esophagogastric junction are staged using the TNM system for esophageal adenocarcinoma. Lymphomas, sarcomas, and carcinoid tumors (low-grade neuroendocrine tumors) are not included in this classification. (from AJCC 7th Ed.)|NCI|N|
C2983139|A pathologic finding about one or more characteristics of gastric cancer, following the rules of the TNM AJCC v7 classification system. The pathologic staging depends on data acquired clinically, together with findings on subsequent surgical exploration and examination of the pathologic specimen if resection is accomplished. Pathologic assessment of the regional lymph nodes entails their removal and histologic examination to evaluate the total number, as well as the number that contain metastatic tumor. (from AJCC 7th Ed.)|NCI|N|
C2983140|A pathologic finding about one or more characteristics of gastric cancer, following the rules of the TNM AJCC v7 classification system as they pertain to staging of the primary tumor.|NCI|N|
C2983142|Gastric cancer invading lamina propria, muscularis mucosae, or submucosa. (from AJCC 7th Ed.)|NCI|N|
C2983143|Gastric cancer with tumor invading lamina propria or muscularis mucosae. (from AJCC 7th Ed.)|NCI|N|
C2983144|Gastric cancer invading the submucosa. (from AJCC 7th Ed.)|NCI|N|
C2983145|Gastric cancer with tumor invading the muscularis propria. A tumor may penetrate the muscularis propria with extension into the gastrocolic or gastrohepatic ligaments, or into the greater or lesser omentum, without perforation of the visceral peritoneum covering these structures. In this case, the tumor is classified T3. If there is perforation of the visceral peritoneum covering the gastric ligaments or the omentum, the tumor should be classified T4. (from AJCC 7th Ed.)|NCI|N|
C2983147|Gastric cancer with tumor penetrating subserosal connective tissue without invasion of visceral peritoneum or adjacent structures. The adjacent structures of the stomach include the spleen, transverse colon, liver, diaphragm, pancreas, abdominal wall, adrenal gland, kidney, small intestine, and retroperitoneum. Intramural extension to the duodenum or esophagus is classified by the depth of the greatest invasion in any of these sites, including the stomach. (from AJCC 7th Ed.)|NCI|N|
C2983148|Gastric cancer with tumor invading serosa (visceral peritoneum) or adjacent structures. The adjacent structures of the stomach include the spleen, transverse colon, liver, diaphragm, pancreas, abdominal wall, adrenal gland, kidney, small intestine, and retroperitoneum. Intramural extension to the duodenum or esophagus is classified by the depth of the greatest invasion in any of these sites, including the stomach. (from AJCC 7th Ed.)|NCI|N|
C2983149|Gastric cancer with tumor invading serosa (visceral peritoneum). (from AJCC 7th Ed.)|NCI|N|
C2983150|Gastric cancer with tumor invading adjacent structures. (from AJCC 7th Ed.)|NCI|N|
C2983151|A pathologic finding about one or more characteristics of gastric cancer, following the rules of the TNM AJCC v7 classification system as they pertain to staging of regional lymph nodes.|NCI|N|
C2983152|Gastric cancer without regional lymph node metastasis. Note: A designation of pN0 should be used if all examined lymph nodes are negative, regardless of the total number removed and examined. (from AJCC 7th Ed.)|NCI|N|
C2983153|Gastric cancer with metastasis in 1-2 regional lymph nodes. (from AJCC 7th Ed.)|NCI|N|
C2983154|Gastric cancer with metastasis in 3-6 regional lymph nodes. (from AJCC 7th Ed.)|NCI|N|
C2983155|Gastric cancer with metastasis in seven or more regional lymph nodes. (from AJCC 7th Ed.)|NCI|N|
C2983156|Gastric cancer with metastasis in 7-15 regional lymph nodes. (from AJCC 7th Ed.)|NCI|N|
C2983157|Gastric cancer with metastasis in sixteen or more regional lymph nodes. (from AJCC 7th Ed.)|NCI|N|
C2983158|A pathologic finding about one or more characteristics of gastric cancer, following the rules of the TNM AJCC v7 classification system as they pertain to distant metastases. There is no pathologic M0 for gastric cancer. (from AJCC 7th Ed.)|NCI|N|
C2983159|A clinical finding about one or more characteristics of gastric cancer, following the rules of the TNM AJCC v7 classification system. The clinical staging is based on evidence of extent of disease acquired before definitive treatment is instituted. It includes physical examination, radiologic imaging, endoscopy, biopsy, and laboratory findings. All cancers should be confirmed histologically. (from AJCC 7th Ed.)|NCI|N|
C2983160|A clinical finding about one or more characteristics of gastric cancer, following the rules of the TNM AJCC v7 classification system as they pertain to distant metastases.|NCI|N|
C2983161|Gastric cancer without evidence of distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2983162|Gastric cancer with distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2983163|A finding about one or more characteristics of small intestine cancer, following the rules of the TNM AJCC v7 classification system. Lymphomas, carcinoid tumors, and visceral sarcomas are not included in this classification. (from AJCC 7th Ed.)|NCI|N|
C2983164|A pathologic finding about one or more characteristics of small intestine cancer, following the rules of the TNM AJCC v7 classification system. The primary tumor is staged according to its depth of penetration and the involvement of adjacent structures or distant sites. Lateral spread within the duodenum, jejunum, or ileum is not considered in this classification. Only the depth of tumor penetration into the bowel wall and spread to other structures defines the pT stage. (from AJCC 7th Ed.)|NCI|N|
C2983165|A pathologic finding about one or more characteristics of small intestine cancer, following the rules of the TNM AJCC v7 classification system as they pertain to staging of the primary tumor.|NCI|N|
C2983166|Small intestine cancer in which the primary tumor cannot be assessed. (from AJCC 7th Ed.)|NCI|N|
C2983167|Small intestine cancer with no evidence of primary tumor. (from AJCC 7th Ed.)|NCI|N|
C2983168|Small intestine cancer with a finding of carcinoma in situ. (from AJCC 7th Ed.)|NCI|N|
C2983169|Small intestine cancer with tumor invading lamina propria or submucosa. (from AJCC 7th Ed.)|NCI|N|
C2983170|Small intestine cancer with tumor invading lamina propria. (from AJCC 7th Ed.)|NCI|N|
C2983171|Small intestine cancer with tumor invading the submucosa. Note: The nonperitonealized perimuscular tissue is, for jejunum and ileum, part of the mesentery and, for duodenum in areas where serosa is lacking, part of the interface with the pancreas. (from AJCC 7th Ed.)|NCI|N|
C2983172|Small intestine cancer with tumor invading muscularis propria. (from AJCC 7th Ed.)|NCI|N|
C2983173|Small intestine cancer with tumor invading through the muscularis propria into the subserosa or into the nonperitonealized perimuscular tissue (mesentery or retroperitoneum) with extension 2 cm or less. Note: The nonperitonealized perimuscular tissue is, for jejunum and ileum, part of the mesentery and, for duodenum in areas where serosa is lacking, part of the interface with the pancreas. (from AJCC 7th Ed.)|NCI|N|
C2983174|Small intestine cancer with tumor perforating the visceral peritoneum or directly invading other organs or structures (including other loops of small intestine, mesentery, or retroperitoneum more than 2 cm, and abdominal wall by way of serosa; for duodenum only, invasion of pancreas or bile duct). (from AJCC 7th Ed.)|NCI|N|
C2983175|A pathologic finding about one or more characteristics of small intestine cancer, following the rules of the TNM AJCC v7 classification system as they pertain to staging of regional lymph nodes.|NCI|N|
C2983176|Small intestine cancer in which regional lymph nodes cannot be assessed. (from AJCC 7th Ed.)|NCI|N|
C2983177|Small intestine cancer without regional lymph node metastasis. (from AJCC 7th Ed.)|NCI|N|
C2983178|Small intestine cancer with metastasis in 1-3 regional lymph nodes. (from AJCC 7th Ed.)|NCI|N|
C2983179|Small intestine cancer with metastasis in four or more regional lymph nodes. (from AJCC 7th Ed.)|NCI|N|
C2983180|A pathologic finding about one or more characteristics of small intestine cancer, following the rules of the TNM AJCC v7 classification system as they pertain to distant metastases. There is no pathologic M0 for small intestine cancer. (from AJCC 7th Ed.)|NCI|N|
C2983181|Small intestine cancer with distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2983182|A clinical finding about one or more characteristics of small intestine cancer, following the rules of the TNM AJCC v7 classification system. Imaging studies such as CT and MRI play a major role in clinical staging. Metastatic disease is assessed by routine chest films and chest CT. Intraoperative assessment plays a role in clinical evaluation, especially when tumor cannot be resected. Metastatic involvement of the liver may be evaluated by intraoperative ultrasonography. (from AJCC 7th Ed.)|NCI|N|
C2983183|A clinical finding about one or more characteristics of small intestine cancer, following the rules of the TNM AJCC v7 classification system as they pertain to distant metastases.|NCI|N|
C2983184|Small intestine cancer without evidence of distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2983185|Small intestine cancer with distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2983189|A finding about one or more characteristics of appendiceal cancer, following the rules of the TNM AJCC v7 classification system. Carcinomas and carcinoid tumors of the appendix are included, but are separately categorized. (from AJCC 7th Ed.)|NCI|N|
C2983190|A finding about one or more characteristics of appendiceal carcinoma, following the rules of the TNM AJCC v7 classification system.|NCI|N|
C2983191|A pathologic finding about one or more characteristics of appendiceal carcinoma, following the rules of the TNM AJCC v7 classification system. Appendiceal carcinomas are usually staged after surgical exploration of the abdomen and pathologic examination of the resected specimen. (from AJCC 7th Ed.)|NCI|N|
C2983192|A pathologic finding about one or more characteristics of appendiceal carcinoma, following the rules of the TNM AJCC v7 classification system as they pertain to staging of the primary tumor.|NCI|N|
C2983193|Appendiceal carcinoma in which the primary tumor cannot be assessed. (from AJCC 7th Ed.)|NCI|N|
C2983194|Appendiceal carcinoma with no evidence of primary tumor. (from AJCC 7th Ed.)|NCI|N|
C2983195|Appendiceal carcinoma with a finding of carcinoma in situ: intraepithelial or invasion of the lamina propria. Tis includes cancer cells confined within the glandular basement membrane (intraepithelial) or lamina propria (intramucosal) with no extension through muscularis mucosae into submucosa. (from AJCC 7th Ed.)|NCI|N|
C2983196|Appendiceal carcinoma with tumor invading submucosa. (from AJCC 7th Ed.)|NCI|N|
C2983197|Appendiceal carcinoma with tumor invading muscularis propria. (from AJCC 7th Ed.)|NCI|N|
C2983198|Appendiceal carcinoma with tumor invading through muscularis propria into subserosa or into mesoappendix. (from AJCC 7th Ed.)|NCI|N|
C2983199|Appendiceal carcinoma with tumor penetrating visceral peritoneum including mucinous peritoneal tumor within the right lower quadrant and/or directly invading other organs or structures. Direct invasion in T4 includes invasion of other segments of the colorectum by way of the serosa, e.g., invasion of ileum. Tumor that is adherent to other organs or structures grossly is classified cT4b. However, if no tumor is present in the adhesion microscopically, the classification should be pT1-3 depending on the anatomical depth of wall invasion. (from AJCC 7th Ed.)|NCI|N|
C2983200|Appendiceal carcinoma with tumor penetrating visceral peritoneum including mucinous peritoneal tumor within the right lower quadrant. (from AJCC 7th Ed.)|NCI|N|
C2983201|Appendiceal carcinoma with tumor directly invading other organs or structures. (from AJCC 7th Ed.)|NCI|N|
C2983202|A pathologic finding about one or more characteristics of appendiceal carcinoma, following the rules of the TNM AJCC v7 classification system as they pertain to staging of regional lymph nodes.|NCI|N|
C2983203|Appendiceal carcinoma in which regional lymph nodes cannot be assessed. (from AJCC 7th Ed.)|NCI|N|
C2983204|Appendiceal carcinoma without regional lymph node metastasis. (from AJCC 7th Ed.)|NCI|N|
C2983205|Appendiceal carcinoma with metastasis in 1-3 regional lymph nodes. (from AJCC 7th Ed.)|NCI|N|
C2983206|Appendiceal carcinoma with metastasis in four or more regional lymph nodes. (from AJCC 7th Ed.)|NCI|N|
C2983207|A pathologic finding about one or more characteristics of appendiceal carcinoma, following the rules of the TNM AJCC v7 classification system as they pertain to distant metastases. There is no pathologic M0 for appendiceal carcinoma. (from AJCC 7th Ed.)|NCI|N|
C2983208|Appendiceal carcinoma with distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2983209|Appendiceal carcinoma with intraperitoneal metastasis beyond the right lower quadrant, including pseudomyxoma peritonei. (from AJCC 7th Ed.)|NCI|N|
C2983210|Appendiceal carcinoma with nonperitoneal metastasis. (from AJCC 7th Ed.)|NCI|N|
C2983211|A clinical finding about one or more characteristics of appendiceal carcinoma, following the rules of the TNM AJCC v7 classification system. Clinical assessment is based on medical history, physical examination, and imaging. (from AJCC 7th Ed.)|NCI|N|
C2983212|A clinical finding about one or more characteristics of appendiceal carcinoma, following the rules of the TNM AJCC v7 classification system as they pertain to distant metastases.|NCI|N|
C2983213|Appendiceal carcinoma without evidence of distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2983214|Appendiceal carcinoma with distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2983215|Appendiceal carcinoma with intraperitoneal metastasis beyond the right lower quadrant, including pseudomyxoma peritonei. (from AJCC 7th Ed.)|NCI|N|
C2983216|Appendiceal carcinoma with nonperitoneal metastasis. (from AJCC 7th Ed.)|NCI|N|
C2983218|A finding about one or more characteristics of appendiceal carcinoid, following the rules of the TNM AJCC v7 classification system.|NCI|N|
C2983219|A pathologic finding about one or more characteristics of appendiceal carcinoid, following the rules of the TNM AJCC v7 classification system. Appendiceal carcinoids are usually staged after laparoscopic or open surgical exploration of the abdomen (often for appendicitis) and pathologic examination of the resected specimen. (from AJCC 7th Ed.)|NCI|N|
C2983220|A pathologic finding about one or more characteristics of appendiceal carcinoid, following the rules of the TNM AJCC v7 classification system as they pertain to staging of the primary tumor.|NCI|N|
C2983221|Appendiceal carcinoid in which the primary tumor cannot be assessed. (from AJCC 7th Ed.)|NCI|N|
C2983222|Appendiceal carcinoid with no evidence of primary tumor. (from AJCC 7th Ed.)|NCI|N|
C2983223|Appendiceal carcinoid with tumor 2 cm or less in greatest dimension. (from AJCC 7th Ed.)|NCI|N|
C2983224|Appendiceal carcinoid with tumor 1 cm or less in greatest dimension. (from AJCC 7th Ed.)|NCI|N|
C2983225|Appendiceal carcinoid with tumor more than 1 cm but not more than 2 cm in greatest dimension. (from AJCC 7th Ed.)|NCI|N|
C2983226|Appendiceal carcinoid with tumor more than 2 cm but not more than 4 cm or with extension to the cecum. (from AJCC 7th Ed.)|NCI|N|
C2983227|Appendiceal carcinoid with tumor more than 4 cm or with extension to the ileum. (from AJCC 7th Ed.)|NCI|N|
C2983228|Appendiceal carcinoid with tumor directly invading other adjacent organs or structures, e.g., abdominal wall and skeletal muscle. Penetration of the mesoappendix does not seem to be as important a prognostic factor as the size of the primary tumor and is not separately categorized. (from AJCC 7th Ed.)|NCI|N|
C2983229|A pathologic finding about one or more characteristics of appendiceal carcinoid, following the rules of the TNM AJCC v7 classification system as they pertain to staging of regional lymph nodes.|NCI|N|
C2983230|Appendiceal carcinoid in which regional lymph nodes cannot be assessed. (from AJCC 7th Ed.)|NCI|N|
C2983231|Appendiceal carcinoid without regional lymph node metastasis. (from AJCC 7th Ed.)|NCI|N|
C2983232|Appendiceal carcinoid with regional lymph node metastasis. (from AJCC 7th Ed.)|NCI|N|
C2983233|A pathologic finding about one or more characteristics of appendiceal carcinoid, following the rules of the TNM AJCC v7 classification system as they pertain to distant metastases. There is no pathologic M0 for appendiceal carcinoid. (from AJCC 7th Ed.)|NCI|N|
C2983234|Appendiceal carcinoid with distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2983235|A clinical finding about one or more characteristics of appendiceal carcinoid, following the rules of the TNM AJCC v7 classification system. Clinical assessment is based on medical history, physical examination, and imaging. Determination of elevated urinary 5-HIAA may indicate liver metastasis. (from AJCC 7th Ed.)|NCI|N|
C2983236|A clinical finding about one or more characteristics of appendiceal carcinoid, following the rules of the TNM AJCC v7 classification system as they pertain to distant metastases.|NCI|N|
C2983237|Appendiceal carcinoid without evidence of distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2983238|Appendiceal carcinoid with distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2983239|A finding about one or more characteristics of colorectal cancer, following the rules of the TNM AJCC v7 classification system. Sarcomas, lymphomas, and carcinoid tumors of the large intestine are not included in this classification. (from AJCC 7th Ed.)|NCI|N|
C2983240|A pathologic finding about one or more characteristics of colorectal cancer, following the rules of the TNM AJCC v7 classification system. Most cancers of the colon and many cancers of the rectum are pathologically staged after surgical exploration of the abdomen, cancer-directed surgical resection, and pathologic examination of the resected specimen. (from AJCC 7th Ed.)|NCI|N|
C2983241|A pathologic finding about one or more characteristics of colorectal cancer, following the rules of the TNM AJCC v7 classification system as they pertain to staging of the primary tumor.|NCI|N|
C2983242|Colorectal cancer with a finding of carcinoma in situ: intraepithelial or invasion of lamina propria. Note: Tis includes cancer cells confined within the glandular basement membrane (intraepithelial) or mucosal lamina propria (intramucosal) with no extension through the muscularis mucosae into the submucosa. (from AJCC 7th Ed.)|NCI|N|
C2983243|Colorectal cancer with invasion through the muscularis propria into pericolorectal tissues. (from AJCC 7th Ed.)|NCI|N|
C2983244|Colorectal cancer with penetration to the surface of the visceral peritoneum. (from AJCC 7th Ed.)|NCI|N|
C2983245|Colorectal cancer with direct invasion or adherence to other organs or structures. (from AJCC 7th Ed.)|NCI|N|
C2983246|A pathologic finding about one or more characteristics of colorectal cancer, following the rules of the TNM AJCC v7 classification system as they pertain to staging of regional lymph nodes.|NCI|N|
C2983247|Colorectal cancer with metastasis in 1-3 regional lymph nodes. (from AJCC 7th Ed.)|NCI|N|
C2983248|Colorectal cancer with metastasis in one regional lymph node. (from AJCC 7th Ed.)|NCI|N|
C2983249|Colorectal cancer with metastasis in 2-3 regional lymph nodes. (from AJCC 7th Ed.)|NCI|N|
C2983250|Colorectal cancer with tumor deposit(s) in the subserosa, mesentery, or nonperitonealized pericolic or perirectal tissues without regional lymph node metastasis. (from AJCC 7th Ed.)|NCI|N|
C2983251|Colorectal cancer with metastasis in four or more regional lymph nodes. (from AJCC 7th Ed.)|NCI|N|
C2983252|Colorectal cancer with metastasis in 4-6 regional lymph nodes. (from AJCC 7th Ed.)|NCI|N|
C2983253|Colorectal cancer with metastasis in seven or more regional lymph nodes. (from AJCC 7th Ed.)|NCI|N|
C2983254|A pathologic finding about one or more characteristics of colorectal cancer, following the rules of the TNM AJCC v7 classification system as they pertain to distant metastases. There is no pathologic M0 for colorectal cancer. (from AJCC 7th Ed.)|NCI|N|
C2983255|Colorectal cancer with metastasis confined to one organ or site (e.g., liver, lung, ovary, nonregional node). (from AJCC 7th Ed.)|NCI|N|
C2983256|Colorectal cancer with metastases in more than one organ/site or the peritoneum. (from AJCC 7th Ed.)|NCI|N|
C2983279|A clinical finding about one or more characteristics of colorectal cancer, following the rules of the TNM AJCC v7 classification system. Clinical assessment is based on medical history, physical examination, sigmoidoscopy, and colonoscopy with biopsy. Examinations designed to demonstrate the presence of extrarectal or extracolonic metastasis may include chest radiographic films, computed tomography (CT; abdomen, pelvis, chest), magnetic resonance imaging (MRI), and positron emission tomography (PET) or fused PET/CT scans. (from AJCC 7th Ed.)|NCI|N|
C2983280|A clinical finding about one or more characteristics of colorectal cancer, following the rules of the TNM AJCC v7 classification system as they pertain to distant metastases.|NCI|N|
C2983281|Colorectal cancer without evidence of distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2983282|Colorectal cancer with distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2983283|Colorectal cancer with metastasis confined to one organ or site (e.g., liver, lung, ovary, nonregional node). (from AJCC 7th Ed.)|NCI|N|
C2983284|Colorectal cancer with metastases in more than one organ/site or the peritoneum. (from AJCC 7th Ed.)|NCI|N|
C2983298|A finding about one or more characteristics of anal cancer, following the rules of the TNM AJCC v7 classification system. This classification applies to carcinomas arising in the anal canal only; melanomas, carcinoid tumors, sarcomas, and perianal tumors are not included. (from AJCC 7th Ed.)|NCI|N|
C2983299|A pathologic finding about one or more characteristics of anal cancer, following the rules of the TNM AJCC v7 classification system.|NCI|N|
C2983300|A pathologic finding about one or more characteristics of anal cancer, following the rules of the TNM AJCC v7 classification system as they pertain to staging of the primary tumor.|NCI|N|
C2983301|A pathologic finding about one or more characteristics of anal cancer, following the rules of the TNM AJCC v7 classification system as they pertain to staging of regional lymph nodes.|NCI|N|
C2983302|A pathologic finding about one or more characteristics of anal cancer, following the rules of the TNM AJCC v7 classification system as they pertain to distant metastases. There is no pathologic M0 for anal cancer. (from AJCC 7th Ed.)|NCI|N|
C2983303|A clinical finding about one or more characteristics of anal cancer, following the rules of the TNM AJCC v7 classification system. (from AJCC 7th Ed.)|NCI|N|
C2983304|A clinical finding about one or more characteristics of anal cancer, following the rules of the TNM AJCC v7 classification system as they pertain to distant metastases.|NCI|N|
C2983305|Anal cancer without evidence of distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2983306|Anal cancer with distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2983314|A finding about one or more characteristics of gastrointestinal stromal tumor, following the rules of the TNM AJCC v7 classification system.|NCI|N|
C2983315|A pathologic finding about one or more characteristics of gastrointestinal stromal tumor, following the rules of the TNM AJCC v7 classification system.|NCI|N|
C2983316|A pathologic finding about one or more characteristics of gastrointestinal stromal tumor, following the rules of the TNM AJCC v7 classification system as they pertain to staging of the primary tumor.|NCI|N|
C2983317|Gastrointestinal stromal tumor in which the primary tumor cannot be assessed. (from AJCC 7th Ed.)|NCI|N|
C2983318|Gastrointestinal stromal tumor with no evidence of a primary tumor. (from AJCC 7th Ed.)|NCI|N|
C2983319|Gastrointestinal stromal tumor with tumor size 2 cm or less in greatest dimension. (from AJCC 7th Ed.)|NCI|N|
C2983320|Gastrointestinal stromal tumor with tumor size more than 2 cm, but not more than 5 cm, in greatest dimension. (from AJCC 7th Ed.)|NCI|N|
C2983321|Gastrointestinal stromal tumor with tumor size more than 5 cm, but not more than 10 cm, in greatest dimension. (from AJCC 7th Ed.)|NCI|N|
C2983322|Gastrointestinal stromal tumor with tumor size more than 10 cm in greatest dimension. (from AJCC 7th Ed.)|NCI|N|
C2983323|A pathologic finding about one or more characteristics of gastrointestinal stromal tumor, following the rules of the TNM AJCC v7 classification system as they pertain to staging of regional lymph nodes.|NCI|N|
C2983324|Gastrointestinal stromal tumor in which regional lymph nodes cannot be assessed. (from AJCC 7th Ed.)|NCI|N|
C2983325|Gastrointestinal stromal tumor with no evidence of metastasis to regional lymph nodes. (from AJCC 7th Ed.)|NCI|N|
C2983326|Gastrointestinal stromal tumor with regional lymph node metastasis. (from AJCC 7th Ed.)|NCI|N|
C2983327|A pathologic finding about one or more characteristics of gastrointestinal stromal tumor, following the rules of the TNM AJCC v7 classification system as they pertain to distant metastases. There is no pathologic M0 for gastrointestinal stromal tumor. (from AJCC 7th Ed.)|NCI|N|
C2983328|Gastrointestinal stromal tumor with distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2983329|A clinical finding about one or more characteristics of gastrointestinal stromal tumor, following the rules of the TNM AJCC v7 classification system.|NCI|N|
C2983330|A clinical finding about one or more characteristics of gastrointestinal stromal tumor, following the rules of the TNM AJCC v7 classification system as they pertain to distant metastases.|NCI|N|
C2983331|Gastrointestinal stromal tumor without evidence of distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2983332|Gastrointestinal stromal tumor with distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2983333|A finding about one or more characteristics of gastrointestinal neuroendocrine tumor, following the rules of the TNM AJCC v7 classification system. This classification applies to gastric, small bowel, colonic, rectal, and ampulla of Vater carcinoid tumors; carcinoid tumors of the appendix and neuroendocrine tumors of the pancreas are not included in this classification. (from AJCC 7th Ed.)|NCI|N|
C2983334|A pathologic finding about one or more characteristics of gastrointestinal neuroendocrine tumor, following the rules of the TNM AJCC v7 classification system. The pathologic staging is based on endoscopic biopsy specimens, percutaneous biopsies, fine-needle aspirates, surgical exploration, and on examination of surgically resected primary tumor, lymph nodes, and distant metastases. (from AJCC 7th Ed.)|NCI|N|
C2983335|A pathologic finding about one or more characteristics of gastric neuroendocrine tumor, following the rules of the TNM AJCC v7 classification system as they pertain to staging of the primary tumor.|NCI|N|
C2983336|Gastric neuroendocrine tumor in which the primary tumor cannot be assessed. (from AJCC 7th Ed.)|NCI|N|
C2983337|Gastric neuroendocrine tumor with no evidence of a primary tumor. (from AJCC 7th Ed.)|NCI|N|
C2983338|Gastric neuroendocrine tumor with a finding of carcinoma in situ/dysplasia (tumor size less than 0.5 mm), confined to mucosa. (from AJCC 7th Ed.)|NCI|N|
C2983339|Gastric neuroendocrine tumor invading lamina propria or submucosa and is 1 cm or less in size. (from AJCC 7th Ed.)|NCI|N|
C2983340|Gastric neuroendocrine tumor invading muscularis propria or is more than 1 cm in size. (from AJCC 7th Ed.)|NCI|N|
C2983341|Gastric neuroendocrine tumor penetrating subserosa. (from AJCC 7th Ed.)|NCI|N|
C2983342|Gastric neuroendocrine tumor invading visceral peritoneum (serosa) or other organs or adjacent structures. (from AJCC 7th Ed.)|NCI|N|
C2983343|A pathologic finding about one or more characteristics of gastric neuroendocrine tumor, following the rules of the TNM AJCC v7 classification system as they pertain to staging of regional lymph nodes.|NCI|N|
C2983344|Gastric neuroendocrine tumor in which regional lymph nodes cannot be assessed. (from AJCC 7th Ed.)|NCI|N|
C2983345|Gastric neuroendocrine tumor with no regional lymph node metastasis. (from AJCC 7th Ed.)|NCI|N|
C2983346|Gastric neuroendocrine tumor with regional lymph node metastasis. (from AJCC 7th Ed.)|NCI|N|
C2983347|A pathologic finding about one or more characteristics of gastric neuroendocrine tumor, following the rules of the TNM AJCC v7 classification system as they pertain to distant metastases. There is no pathologic M0 for gastric neuroendocrine tumor. (from AJCC 7th Ed.)|NCI|N|
C2983348|Gastric neuroendocrine tumor with distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2983349|A pathologic finding about one or more characteristics of duodenum/ampulla/jejunum/ileum neuroendocrine tumor, following the rules of the TNM AJCC v7 classification system as they pertain to staging of the primary tumor.|NCI|N|
C2983350|Duodenum/ampulla/jejunum/ileum neuroendocrine tumor in which the primary tumor cannot be assessed. (from AJCC 7th Ed.)|NCI|N|
C2983351|Duodenum/ampulla/jejunum/ileum neuroendocrine tumor with no evidence of a primary tumor. (from AJCC 7th Ed.)|NCI|N|
C2983352|Duodenum/ampulla/jejunum/ileum neuroendocrine tumor invading lamina propria or submucosa and is 1 cm or less in size (small intestinal tumors); for ampullary tumors: tumor 1 cm or less. (from AJCC 7th Ed.)|NCI|N|
C2983353|Duodenum/ampulla/jejunum/ileum neuroendocrine tumor invading muscularis propria or is more than 1 cm in size (small intestinal tumors); for ampullary tumors: tumor more than 1 cm. (from AJCC 7th Ed.)|NCI|N|
C2983354|Duodenum/ampulla/jejunum/ileum neuroendocrine tumor invading through the muscularis propria into subserosal tissue without penetration of overlying serosa (jejunal or ileal tumors) or invading pancreas or retroperitoneum (ampullary or duodenal tumors) or into non-peritonealized tissues. (from AJCC 7th Ed.)|NCI|N|
C2983355|Duodenum/ampulla/jejunum/ileum neuroendocrine tumor invading visceral peritoneum (serosa) or invading other organs. (from AJCC 7th Ed.)|NCI|N|
C2983356|A pathologic finding about one or more characteristics of duodenum/ampulla/jejunum/ileum neuroendocrine tumor, following the rules of the TNM AJCC v7 classification system as they pertain to staging of regional lymph nodes.|NCI|N|
C2983357|Duodenum/ampulla/jejunum/ileum neuroendocrine tumor in which regional lymph nodes cannot be assessed. (from AJCC 7th Ed.)|NCI|N|
C2983358|Duodenum/ampulla/jejunum/ileum neuroendocrine tumor with no regional lymph node metastasis. (from AJCC 7th Ed.)|NCI|N|
C2983359|Duodenum/ampulla/jejunum/ileum neuroendocrine tumor with regional lymph node metastasis. (from AJCC 7th Ed.)|NCI|N|
C2983361|A pathologic finding about one or more characteristics of duodenum/ampulla/jejunum/ileum neuroendocrine tumor, following the rules of the TNM AJCC v7 classification system as they pertain to distant metastases. There is no pathologic M0 for duodenum/ampulla/jejunum/ileum neuroendocrine tumor. (from AJCC 7th Ed.)|NCI|N|
C2983362|Duodenum/ampulla/jejunum/ileum neuroendocrine tumor with distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2983363|A pathologic finding about one or more characteristics of colon or rectum neuroendocrine tumor, following the rules of the TNM AJCC v7 classification system as they pertain to staging of the primary tumor.|NCI|N|
C2983364|Colon or rectum neuroendocrine tumor in which the primary tumor cannot be assessed. (from AJCC 7th Ed.)|NCI|N|
C2983366|Colon or rectum neuroendocrine tumor with no evidence of a primary tumor. (from AJCC 7th Ed.)|NCI|N|
C2983367|Colon or rectum neuroendocrine tumor invading lamina propria or submucosa and is 2 cm or less in size. (from AJCC 7th Ed.)|NCI|N|
C2983368|Colon or rectum neuroendocrine tumor invading lamina propria or submucosa and is less than 1 cm in greatest dimension. (from AJCC 7th Ed.)|NCI|N|
C2983369|Colon or rectum neuroendocrine tumor invading lamina propria or submucosa and is 1-2 cm in greatest dimension. (from AJCC 7th Ed.)|NCI|N|
C2983370|Colon or rectum neuroendocrine tumor invading muscularis propria or is more than 2 cm in size with invasion of lamina propria or submucosa. (from AJCC 7th Ed.)|NCI|N|
C2983371|Colon or rectum neuroendocrine tumor invading through the muscularis propria into the subserosa, or into non-peritonealized pericolic or perirectal tissues. (from AJCC 7th Ed.)|NCI|N|
C2983372|Colon or rectum neuroendocrine tumor invading peritoneum or other organs. (from AJCC 7th Ed.)|NCI|N|
C2983373|A pathologic finding about one or more characteristics of colon or rectum neuroendocrine tumor, following the rules of the TNM AJCC v7 classification system as they pertain to staging of regional lymph nodes.|NCI|N|
C2983374|Colon or rectum neuroendocrine tumor in which regional lymph nodes cannot be assessed. (from AJCC 7th Ed.)|NCI|N|
C2983375|Colon or rectum neuroendocrine tumor with no regional lymph node metastasis. (from AJCC 7th Ed.)|NCI|N|
C2983376|Colon or rectum neuroendocrine tumor with regional lymph node metastasis. (from AJCC 7th Ed.)|NCI|N|
C2983378|A pathologic finding about one or more characteristics of colon or rectum neuroendocrine tumor, following the rules of the TNM AJCC v7 classification system as they pertain to distant metastases. There is no pathologic M0 for colon or rectum neuroendocrine tumor. (from AJCC 7th Ed.)|NCI|N|
C2983379|Colon or rectum neuroendocrine tumor with distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2983380|A clinical finding about one or more characteristics of gastrointestinal neuroendocrine tumor, following the rules of the TNM AJCC v7 classification system. The clinical staging depends upon the anatomic extent and hormonal activity of the primary tumor, which can be ascertained by examination before treatment. (from AJCC 7th Ed.)|NCI|N|
C2983381|A clinical finding about one or more characteristics of gastric neuroendocrine tumor, following the rules of the TNM AJCC v7 classification system as they pertain to distant metastases.|NCI|N|
C2983382|Gastric neuroendocrine tumor without evidence of distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2983383|Gastric neuroendocrine tumor with distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2983384|A clinical finding about one or more characteristics of duodenum/ampulla/jejunum/ileum neuroendocrine tumor, following the rules of the TNM AJCC v7 classification system as they pertain to distant metastases.|NCI|N|
C2983385|Duodenum/ampulla/jejunum/ileum neuroendocrine tumor without evidence of distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2983387|Duodenum/ampulla/jejunum/ileum neuroendocrine tumor with distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2983388|A clinical finding about one or more characteristics of colon or rectum neuroendocrine tumor, following the rules of the TNM AJCC v7 classification system as they pertain to distant metastases.|NCI|N|
C2983390|Colon or rectum neuroendocrine tumor without evidence of distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2983391|Colon or rectum neuroendocrine tumor with distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2983398|A finding about one or more characteristics of liver cancer, following the rules of the TNM AJCC v7 classification system. Intrahepatic bile duct cancers are no longer included in this classification. The staging of liver cancer now includes only hepatocellular carcinoma. (from AJCC 7th Ed.)|NCI|N|
C2983400|A pathologic finding about one or more characteristics of liver cancer, following the rules of the TNM AJCC v7 classification system. Complete pathologic staging consists of evaluation of the primary tumor, including histologic grade, regional lymph node status, and underlying liver disease. Regional lymph node involvement is rare (5%) except in the fibrolamellar variant of hepatocellular carcinoma. (from AJCC 7th Ed.)|NCI|N|
C2983401|A pathologic finding about one or more characteristics of liver cancer, following the rules of the TNM AJCC v7 classification system as they pertain to staging of the primary tumor.|NCI|N|
C2983403|Liver cancer in which the primary tumor cannot be assessed. (from AJCC 7th Ed.)|NCI|N|
C2983404|Liver cancer with no evidence of a primary tumor. (from AJCC 7th Ed.)|NCI|N|
C2983405|Liver cancer with solitary tumor without vascular invasion. (from AJCC 7th Ed.)|NCI|N|
C2983406|Liver cancer with solitary tumor with vascular invasion or multiple tumors none more than 5 cm in greatest dimension. (from AJCC 7th Ed.)|NCI|N|
C2983407|Liver cancer with multiple tumors more than 5 cm in greatest dimension. (from AJCC 7th Ed.)|NCI|N|
C2983408|Liver cancer with single tumor or multiple tumors of any size involving a major branch of the portal vein or hepatic vein. (from AJCC 7th Ed.)|NCI|N|
C2983409|Liver cancer with tumor(s) with direct invasion of adjacent organs other than the gallbladder or with perforation of visceral peritoneum. (from AJCC 7th Ed.)|NCI|N|
C2983410|A pathologic finding about one or more characteristics of liver cancer, following the rules of the TNM AJCC v7 classification system as they pertain to staging of regional lymph nodes.|NCI|N|
C2983411|Liver cancer in which regional lymph nodes cannot be assessed. (from AJCC 7th Ed.)|NCI|N|
C2983412|Liver cancer with no regional lymph node metastasis. (from AJCC 7th Ed.)|NCI|N|
C2983413|Liver cancer with regional lymph node metastasis. (from AJCC 7th Ed.)|NCI|N|
C2983414|A pathologic finding about one or more characteristics of liver cancer, following the rules of the TNM AJCC v7 classification system as they pertain to distant metastases. There is no pathologic M0 for liver cancer. (from AJCC 7th Ed.)|NCI|N|
C2983415|A disease that does not go to remission despite treatment.|NCI|N|
C2983416|Liver cancer with distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2983417|A clinical finding about one or more characteristics of liver cancer, following the rules of the TNM AJCC v7 classification system.|NCI|N|
C2983418|A clinical finding about one or more characteristics of liver cancer, following the rules of the TNM AJCC v7 classification system as they pertain to distant metastases.|NCI|N|
C2983419|Liver cancer without evidence of distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2983420|Liver cancer with distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2983425|A finding about one or more characteristics of intrahepatic bile duct cancer, following the rules of the TNM AJCC v7 classification system. This is a novel staging system and applies only to intrahepatic cholangiocarcinomas and the rare combined hepatocellular and cholangiocarcinomas. Pure hepatocellular carcinomas are not included in this classification. (from AJCC 7th Ed.)|NCI|N|
C2983426|A pathologic finding about one or more characteristics of intrahepatic bile duct cancer, following the rules of the TNM AJCC v7 classification system. Complete pathologic staging consists of evaluation of the primary tumor, including tumor number, involvement of local regional lymph nodes, and the presence or absence of vascular invasion. (from AJCC 7th Ed.)|NCI|N|
C2983427|A pathologic finding about one or more characteristics of intrahepatic bile duct cancer, following the rules of the TNM AJCC v7 classification system as they pertain to staging of the primary tumor.|NCI|N|
C2983428|Intrahepatic bile duct cancer in which the primary tumor cannot be assessed. (from AJCC 7th Ed.)|NCI|N|
C2983429|Intrahepatic bile duct cancer with no evidence of primary tumor. (from AJCC 7th Ed.)|NCI|N|
C2983430|Intrahepatic bile duct cancer with a finding of carcinoma in situ (intraductal tumor). (from AJCC 7th Ed.)|NCI|N|
C2983431|Intrahepatic bile duct cancer with solitary tumor without vascular invasion. (from AJCC 7th Ed.)|NCI|N|
C2983432|Intrahepatic bile duct cancer with solitary tumor with vascular invasion or multiple tumors, with or without vascular invasion.|NCI|N|
C2983433|Intrahepatic bile duct cancer with solitary tumor with vascular invasion. (from AJCC 7th Ed.)|NCI|N|
C2983434|Intrahepatic bile duct cancer with multiple tumors, with or without vascular invasion. (from AJCC 7th Ed.)|NCI|N|
C2983435|Intrahepatic bile duct cancer with tumor perforating the visceral peritoneum or involving the local extra hepatic structures by direct invasion. (from AJCC 7th Ed.)|NCI|N|
C2983436|Intrahepatic bile duct cancer with periductal invasion. (from AJCC 7th Ed.)|NCI|N|
C2983437|A pathologic finding about one or more characteristics of intrahepatic bile duct cancer, following the rules of the TNM AJCC v7 classification system as they pertain to staging of regional lymph nodes.|NCI|N|
C2983438|Intrahepatic bile duct cancer in which regional lymph nodes cannot be assessed. (from AJCC 7th Ed.)|NCI|N|
C2983439|Intrahepatic bile duct cancer without regional lymph node metastasis. (from AJCC 7th Ed.)|NCI|N|
C2983440|Intrahepatic bile duct cancer with regional lymph node metastasis. (from AJCC 7th Ed.)|NCI|N|
C2983441|A pathologic finding about one or more characteristics of intrahepatic bile duct cancer, following the rules of the TNM AJCC v7 classification system as they pertain to distant metastases. There is no pathologic M0 for intrahepatic bile duct cancer.|NCI|N|
C2983442|Intrahepatic bile duct cancer with distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2983443|A clinical finding about one or more characteristics of intrahepatic bile duct cancer, following the rules of the TNM AJCC v7 classification system. The clinical staging depends on imaging procedures. (from AJCC 7th Ed.)|NCI|N|
C2983444|A clinical finding about one or more characteristics of intrahepatic bile duct cancer, following the rules of the TNM AJCC v7 classification system as they pertain to distant metastases.|NCI|N|
C2983445|Intrahepatic bile duct cancer without evidence of distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2983446|Intrahepatic bile duct cancer with distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2983447|A finding about one or more characteristics of gallbladder cancer, following the rules of the TNM AJCC v7 classification system. Carcinoid tumors and sarcomas are not included. The cystic duct is now included in this classification scheme. (from AJCC 7th Ed.)|NCI|N|
C2983448|A pathologic finding about one or more characteristics of gallbladder cancer, following the rules of the TNM AJCC v7 classification system. The pathologic staging is based on examination of the surgical resection specimen. (from AJCC 7th Ed.)|NCI|N|
C2983449|A pathologic finding about one or more characteristics of gallbladder cancer, following the rules of the TNM AJCC v7 classification system as they pertain to staging of the primary tumor.|NCI|N|
C2983450|Gallbladder cancer in which the primary tumor cannot be assessed. (from AJCC 7th Ed.)|NCI|N|
C2983451|A pathologic finding about one or more characteristics of gallbladder cancer, following the rules of the TNM AJCC v7 classification system as they pertain to staging of regional lymph nodes.|NCI|N|
C2983452|Gallbladder cancer with metastases to nodes along the cystic duct, common bile duct, hepatic artery, and/or portal vein. (from AJCC 7th Ed.)|NCI|N|
C2983453|Gallbladder cancer with metastases to periaortic, pericaval, superior mesenteric artery, and/or celiac artery lymph nodes. (from AJCC 7th Ed.)|NCI|N|
C2983454|A pathologic finding about one or more characteristics of gallbladder cancer, following the rules of the TNM AJCC v7 classification system as they pertain to distant metastases. There is no pathologic M0 for gallbladder cancer.|NCI|N|
C2983455|A clinical finding about one or more characteristics of gallbladder cancer, following the rules of the TNM AJCC v7 classification system. The clinical evaluation usually depends on the results of ultrasonography, computed tomography, and magnetic resonance cholangiopancreatography. Clinical staging may also be based on findings from surgical exploration (laparoscopic or open) when the main tumor mass is not resected. (from AJCC 7th Ed.)|NCI|N|
C2983456|A clinical finding about one or more characteristics of gallbladder cancer, following the rules of the TNM AJCC v7 classification system as they pertain to distant metastases.|NCI|N|
C2983457|Gallbladder cancer without evidence of distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2983458|Gallbladder cancer with distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2983459|A finding about one or more characteristics of perihilar bile duct cancer, following the rules of the TNM AJCC v7 classification system. Sarcomas and carcinoid tumors are not included. (from AJCC 7th Ed.)|NCI|N|
C2983460|A pathologic finding about one or more characteristics of perihilar bile duct cancer, following the rules of the TNM AJCC v7 classification system. The pathologic staging is based on examination of the resected specimen and/or biopsies sufficient to document the greatest extent of the disease. (from AJCC 7th Ed.)|NCI|N|
C2983461|A pathologic finding about one or more characteristics of perihilar bile duct cancer, following the rules of the TNM AJCC v7 classification system as they pertain to staging of the primary tumor.|NCI|N|
C2983462|Perihilar bile duct cancer in which the primary tumor cannot be assessed. (from AJCC 7th Ed.)|NCI|N|
C2983463|Perihilar bile duct cancer with no evidence of primary tumor. (from AJCC 7th Ed.)|NCI|N|
C2983464|Perihilar bile duct cancer with a finding of carcinoma in situ. (from AJCC 7th Ed.)|NCI|N|
C2983465|Perihilar bile duct cancer with tumor confined to the bile duct, with extension up to the muscle layer or fibrous tissue. (from AJCC 7th Ed.)|NCI|N|
C2983466|Perihilar bile duct cancer with tumor invading beyond the wall of the bile duct to surrounding adipose tissue or tumor invading adjacent hepatic parenchyma. (from AJCC 7th Ed.)|NCI|N|
C2983467|Perihilar bile duct cancer with tumor invading beyond the wall of the bile duct to surrounding adipose tissue. (from AJCC 7th Ed.)|NCI|N|
C2983468|Perihilar bile duct cancer with tumor invading adjacent hepatic parenchyma. (from AJCC 7th Ed.)|NCI|N|
C2983469|Perihilar bile duct cancer with tumor invading unilateral branches of the portal vein or hepatic artery. (from AJCC 7th Ed.)|NCI|N|
C2983470|Perihilar bile duct cancer with tumor invading the main portal vein or its branches bilaterally; or the common hepatic artery; or the second-order biliary radicals bilaterally; or unilateral second-order biliary radicals with contralateral portal vein or hepatic artery involvement. (from AJCC 7th Ed.)|NCI|N|
C2983471|A pathologic finding about one or more characteristics of perihilar bile duct cancer, following the rules of the TNM AJCC v7 classification system as they pertain to staging of regional lymph nodes.|NCI|N|
C2983472|Perihilar bile duct cancer in which the regional lymph nodes cannot be assessed. (from AJCC 7th Ed.)|NCI|N|
C2983473|Perihilar bile duct cancer with no regional lymph node metastasis. (from AJCC 7th Ed.)|NCI|N|
C2983474|Perihilar bile duct cancer with regional lymph node metastasis (including nodes along the cystic duct, common bile duct, hepatic artery, and portal vein). (from AJCC 7th Ed.)|NCI|N|
C2983475|Perihilar bile duct cancer with metastasis to periaortic, pericaval, superior mesenteric artery, and/or celiac artery lymph nodes. (from AJCC 7th Ed.)|NCI|N|
C2983476|A pathologic finding about one or more characteristics of perihilar bile duct cancer, following the rules of the TNM AJCC v7 classification system as they pertain to distant metastases. There is no pathologic M0 for perihilar bile duct cancer.|NCI|N|
C2983477|Perihilar bile duct cancer with distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2983478|A clinical finding about one or more characteristics of perihilar bile duct cancer, following the rules of the TNM AJCC v7 classification system. The clinical evaluation usually depends on the results of duplex ultrasound, computed tomography, and magnetic resonance cholangiopancreatography (MRCP). The biliary extent of disease is assessed with percutaneous transhepatic cholangiography or MRCP. Clinical staging also may be based on findings from surgical exploration when the main tumor mass is not resected. (from AJCC 7th Ed.)|NCI|N|
C2983479|A clinical finding about one or more characteristics of perihilar bile duct cancer, following the rules of the TNM AJCC v7 classification system as they pertain to distant metastases.|NCI|N|
C2983480|Perihilar bile duct cancer without evidence of distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2983481|Perihilar bile duct cancer with distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2983482|A finding about one or more characteristics of distal bile duct cancer, following the rules of the TNM AJCC v7 classification system. This TNM classification applies only to cancers arising in the extrahepatic bile ducts above the ampulla of Vater. Sarcomas and carcinoid tumors are not included. (from AJCC 7th Ed.)|NCI|N|
C2983483|A pathologic finding about one or more characteristics of distal bile duct cancer, following the rules of the TNM AJCC v7 classification system. The pathologic staging is based on surgical resection and pathologic examination of the specimen and associated lymph nodes. (from AJCC 7th Ed.)|NCI|N|
C2983484|A pathologic finding about one or more characteristics of distal bile duct cancer, following the rules of the TNM AJCC v7 classification system as they pertain to staging of the primary tumor.|NCI|N|
C2983485|Distal bile duct cancer in which the primary tumor cannot be assessed. (from AJCC 7th Ed.)|NCI|N|
C2983486|Distal bile duct cancer with no evidence of primary tumor. (from AJCC 7th Ed.)|NCI|N|
C2983487|Distal bile duct cancer with a finding of carcinoma in situ. (from AJCC 7th Ed.)|NCI|N|
C2983488|Distal bile duct cancer with tumor confined to the bile duct histologically. (from AJCC 7th Ed.)|NCI|N|
C2983489|Distal bile duct cancer with tumor invading beyond the wall of the bile duct. (from AJCC 7th Ed.)|NCI|N|
C2983490|Distal bile duct cancer with tumor invading the gallbladder, pancreas, duodenum, or other adjacent organs without involvement of the celiac axis or the superior mesenteric artery. (from AJCC 7th Ed.)|NCI|N|
C2983491|Distal bile duct cancer with tumor involving the celiac axis or the superior mesenteric artery. (from AJCC 7th Ed.)|NCI|N|
C2983492|A pathologic finding about one or more characteristics of distal bile duct cancer, following the rules of the TNM AJCC v7 classification system as they pertain to staging of regional lymph nodes.|NCI|N|
C2983493|Distal bile duct cancer in which the regional lymph nodes cannot be assessed. (from AJCC 7th Ed.)|NCI|N|
C2983494|Distal bile duct cancer with no regional lymph node metastasis. (from AJCC 7th Ed.)|NCI|N|
C2983495|Distal bile duct cancer with regional lymph node metastasis. (from AJCC 7th Ed.)|NCI|N|
C2983496|A pathologic finding about one or more characteristics of distal bile duct cancer, following the rules of the TNM AJCC v7 classification system as they pertain to distant metastases. There is no pathologic M0 for distal bile duct cancer. (from AJCC 7th Ed.)|NCI|N|
C2983497|Distal bile duct cancer with distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2983499|A clinical finding about one or more characteristics of distal bile duct cancer, following the rules of the TNM AJCC v7 classification system. The clinical evaluation usually depends on the results of ultrasonography, contrast-enhanced multidetector computerized tomography (CT), or magnetic resonance cholangiopancreatography (MRCP), including arterial and portal venous phases, with thin sections whenever possible. Clinical staging may also be based on findings from surgical exploration when the main tumor mass is not resected. (from AJCC 7th Ed.)|NCI|N|
C2983500|A clinical finding about one or more characteristics of distal bile duct cancer, following the rules of the TNM AJCC v7 classification system as they pertain to distant metastases.|NCI|N|
C2983501|Distal bile duct cancer without evidence of distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2983502|Distal bile duct cancer with distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2983503|A finding about one or more characteristics of ampulla of Vater cancer, following the rules of the TNM AJCC v7 classification system.|NCI|N|
C2983504|A pathologic finding about one or more characteristics of ampulla of Vater cancer, following the rules of the TNM AJCC v7 classification system. The pathologic staging depends on surgical resection and pathologic examination of the specimen and associated lymph nodes. (from AJCC 7th Ed.)|NCI|N|
C2983505|A pathologic finding about one or more characteristics of ampulla of Vater cancer, following the rules of the TNM AJCC v7 classification system as they pertain to staging of the primary tumor.|NCI|N|
C2983506|Ampulla of Vater cancer in which the primary tumor cannot be assessed. (from AJCC 7th Ed.)|NCI|N|
C2983507|Ampulla of Vater cancer with no evidence of primary tumor. (from AJCC 7th Ed.)|NCI|N|
C2983508|Ampulla of Vater cancer with a finding of carcinoma in situ. (from AJCC 7th Ed.)|NCI|N|
C2983509|Ampulla of Vater cancer with tumor limited to ampulla of Vater or sphincter of Oddi. (from AJCC 7th Ed.)|NCI|N|
C2983510|Ampulla of Vater cancer with tumor invading the duodenal wall. (from AJCC 7th Ed.)|NCI|N|
C2983511|Ampulla of Vater cancer with tumor invading the pancreas. (from AJCC 7th Ed.)|NCI|N|
C2983512|Ampulla of Vater cancer with tumor invading peripancreatic soft tissues or other adjacent organs or structures other than pancreas. (from AJCC 7th Ed.)|NCI|N|
C2983513|A pathologic finding about one or more characteristics of ampulla of Vater cancer, following the rules of the TNM AJCC v7 classification system as they pertain to staging of regional lymph nodes.|NCI|N|
C2983514|Ampulla of Vater cancer in which the regional lymph nodes cannot be assessed. (from AJCC 7th Ed.)|NCI|N|
C2983515|Ampulla of Vater cancer with no regional lymph node metastasis. (from AJCC 7th Ed.)|NCI|N|
C2983516|Ampulla of Vater cancer with regional lymph node metastasis. (from AJCC 7th Ed.)|NCI|N|
C2983517|A pathologic finding about one or more characteristics of ampulla of Vater cancer, following the rules of the TNM AJCC v7 classification system as they pertain to distant metastases. There is no pathologic M0 for ampulla of Vater cancer. (from AJCC 7th Ed.)|NCI|N|
C2983518|Ampulla of Vater cancer with distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2983519|A clinical finding about one or more characteristics of ampulla of Vater cancer, following the rules of the TNM AJCC v7 classification system. Endoscopic ultrasonography and computed tomography are effective in preoperative staging and in evaluating resectability of ampullary carcinomas. (from AJCC 7th Ed.)|NCI|N|
C2983520|A clinical finding about one or more characteristics of ampulla of Vater cancer, following the rules of the TNM AJCC v7 classification system as they pertain to distant metastases.|NCI|N|
C2983521|Ampulla of Vater cancer without evidence of distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2983522|Ampulla of Vater cancer with distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2983523|A finding about one or more characteristics of exocrine or endocrine pancreatic cancer, following the rules of the TNM AJCC v7 classification system. Pancreatic neuroendocrine tumors (including carcinoid tumors) are now staged by a single pancreatic staging system. (from AJCC 7th Ed.)|NCI|N|
C2983524|A pathologic finding about one or more characteristics of exocrine or endocrine pancreatic cancer, following the rules of the TNM AJCC v7 classification system.|NCI|N|
C2983525|A pathologic finding about one or more characteristics of exocrine or endocrine pancreatic cancer, following the rules of the TNM AJCC v7 classification system as they pertain to staging of the primary tumor.|NCI|N|
C2983526|Exocrine or endocrine pancreatic cancer in which the primary tumor cannot be assessed. (from AJCC 7th Ed.)|NCI|N|
C2983527|Exocrine or endocrine pancreatic cancer with no evidence of primary tumor. (from AJCC 7th Ed.)|NCI|N|
C2983528|Exocrine or endocrine pancreatic cancer with a finding of carcinoma in situ. This also includes the PanIn III classification. (from AJCC 7th Ed.)|NCI|N|
C2983529|Exocrine or endocrine pancreatic cancer with tumor limited to the pancreas, measuring 2 cm or less in greatest dimension. (from AJCC 7th Ed.)|NCI|N|
C2983531|Exocrine or endocrine pancreatic cancer with tumor limited to the pancreas, measuring more than 2 cm in greatest dimension. (from AJCC 7th Ed.)|NCI|N|
C2983532|Exocrine or endocrine pancreatic cancer with tumor extending beyond the pancreas but without involvement of the celiac axis or the superior mesenteric artery. (from AJCC 7th Ed.)|NCI|N|
C2983533|Exocrine or endocrine pancreatic cancer with tumor involving the celiac axis or the superior mesenteric artery (unresectable primary tumor). (from AJCC 7th Ed.)|NCI|N|
C2983534|A pathologic finding about one or more characteristics of exocrine or endocrine pancreatic cancer, following the rules of the TNM AJCC v7 classification system as they pertain to staging of regional lymph nodes.|NCI|N|
C2983535|Exocrine or endocrine pancreatic cancer in which the regional lymph nodes cannot be assessed. (from AJCC 7th Ed.)|NCI|N|
C2983536|Exocrine or endocrine pancreatic cancer with no regional lymph node metastasis. (from AJCC 7th Ed.)|NCI|N|
C2983537|Exocrine or endocrine pancreatic cancer with regional lymph node metastasis. (from AJCC 7th Ed.)|NCI|N|
C2983538|A pathologic finding about one or more characteristics of exocrine or endocrine pancreatic cancer, following the rules of the TNM AJCC v7 classification system as they pertain to distant metastases. There is no pathologic M0 for exocrine or endocrine pancreatic cancer. (from AJCC 7th Ed.)|NCI|N|
C2983539|Exocrine or endocrine pancreatic cancer with distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2983540|A clinical finding about one or more characteristics of exocrine or endocrine pancreatic cancer, following the rules of the TNM AJCC v7 classification system. Information necessary for the clinical staging of pancreatic cancer can be obtained from physical examination and three dimensional radiographic imaging studies, which include triphasic, contrast-enhanced multislice computed tomography or magnetic resonance imaging (MRI). (from AJCC 7th Ed.)|NCI|N|
C2983541|A clinical finding about one or more characteristics of exocrine or endocrine pancreatic cancer, following the rules of the TNM AJCC v7 classification system as they pertain to distant metastases.|NCI|N|
C2983542|Exocrine or endocrine pancreatic cancer without evidence of distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2983543|Exocrine or endocrine pancreatic cancer with distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2983555|A finding that indicates the specific type of abnormality that is present in a heart valve such as insufficiency, regurgitation or prolapse.|NCI|N|
C2983569|A term that refers to the staging of renal cell cancer according to the American Joint Committee on Cancer, 6th edition.|NCI|N|
C2983570|A term that refers to the staging of bladder cancer according to the American Joint Committee on Cancer, 6th edition.|NCI|N|
C2983571|A term that refers to the staging of vulvar carcinoma according to the American Joint Committee on Cancer, 6th edition.|NCI|N|
C2983572|A term that refers to the staging of vaginal cancer according to the American Joint Committee on Cancer, 6th edition.|NCI|N|
C2983587|The mean value of the amount of weight gained over a period of time.|NCI|N|
C2983605|A measurement of a subject''s nutritional intake.|NCI|N|
C2983640|V-shaped cut (notch) in the middle of the P wave.|HPO|N|
C2983643|The amount of weight gained over a period of time in relation to the total weight.|NCI|N|
C2983656|An indication that the subject was alive when taken out of the study.|NCI|N|
C2983658|An electrocardiographic finding of a change in heart rate that is associated with breathing.|NCI|N|
C2983687|The ability to move body parts and limbs without physical restriction.|NCI|N|
C2983688|The cessation of life at an unplanned time.|NCI|N|
C2983689|The state of consciousness is not controlled. The possibility exists for having multiple conscious states over a period of time.|NCI|N|
C2983695|A term that refers to the staging of cervical cancer according to the American Joint Committee on Cancer, 6th edition.|NCI|N|
C2983696|A term that refers to the staging of uterine corpus cancer according to the American Joint Committee on Cancer, 6th edition.|NCI|N|
C2983700|A term that refers to the staging of fallopian tube carcinoma according to the American Joint Committee on Cancer, 6th edition.|NCI|N|
C2983701|A term that refers to the staging of esophageal carcinoma according to the American Joint Committee on Cancer, 6th edition.|NCI|N|
C2983705|A term that refers to the staging of colorectal carcinoma according to the American Joint Committee on Cancer, 6th edition.|NCI|N|
C2983706|A term that refers to the staging of colon carcinoma according to the American Joint Committee on Cancer, 6th edition.|NCI|N|
C2983707|A term that refers to the staging of rectal carcinoma according to the American Joint Committee on Cancer, 6th edition.|NCI|N|
C2983708|A term that refers to the staging of rectosigmoid carcinoma according to the American Joint Committee on Cancer, 6th edition.|NCI|N|
C2983709|A term that refers to the staging of hepatocellular carcinoma according to the American Joint Committee on Cancer, 6th edition.|NCI|N|
C2983711|A term that refers to the staging of gallbladder cancer according to the American Joint Committee on Cancer, 6th edition.|NCI|N|
C2983712|A term that refers to the staging of breast cancer according to the American Joint Committee on Cancer, 6th edition.|NCI|N|
C2983713|A term that refers to the staging of cutaneous melanoma, following the rules of the TNM AJCC v6 classification system.|NCI|N|
C2983716|A term that refers to the staging of lung carcinoma according to the American Joint Committee on Cancer, 6th edition.|NCI|N|
C2983717|A term that refers to the staging of penile carcinoma according to the American Joint Committee on Cancer, 6th edition.|NCI|N|
C2983718|A term that refers to the staging of prostate carcinoma according to the American Joint Committee on Cancer, 6th edition.|NCI|N|
C2983719|A term that refers to the staging of nasopharyngeal carcinoma according to the American Joint Committee on Cancer, 6th edition.|NCI|N|
C2983720|A term that refers to the staging of oropharyngeal carcinoma according to the American Joint Committee on Cancer, 6th edition.|NCI|N|
C2983721|A term that refers to the staging of hypopharyngeal carcinoma according to the American Joint Committee on Cancer, 6th edition.|NCI|N|
C2983722|A term that refers to the staging of pharyngeal carcinoma according to the American Joint Committee on Cancer, 6th edition.|NCI|N|
C2983723|A term that refers to the staging of laryngeal carcinoma according to the American Joint Committee on Cancer, 6th edition.|NCI|N|
C2983724|A term that refers to the staging of nasal cavity and paranasal sinus carcinoma according to the American Joint Committee on Cancer, 6th edition.|NCI|N|
C2983845|Stage 0 includes: Tis, N0, M0. Tis: Carcinoma in situ. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th ed.)|NCI|N|
C2984067|A term that refers to the staging of renal cell cancer according to the American Joint Committee on Cancer, 7th edition.|NCI|N|
C2984068|A term that refers to the staging of bladder cancer according to the American Joint Committee on Cancer, 7th edition.|NCI|N|
C2984069|A term that refers to the staging of vulvar carcinoma according to the American Joint Committee on Cancer, 7th edition.|NCI|N|
C2984070|A term that refers to the staging of vaginal cancer according to the American Joint Committee on Cancer, 7th edition.|NCI|N|
C2984073|A term that refers to the staging of cervical cancer according to the American Joint Committee on Cancer, 7th edition.|NCI|N|
C2984077|A subjective answer of no agreement or ability.|NCI|N|
C2984078|A subjective answer of weak agreement.|NCI|N|
C2984079|A subjective answer of partial agreement.|NCI|N|
C2984080|A subjective answer describing a fairly large amount or extent.|NCI|N|
C2984081|A subjective answer describing a great amount or extent.|NCI|N|
C2984082|A term that refers to the staging of uterine corpus cancer (carcinoma or carcinosarcoma) according to the American Joint Committee on Cancer, 7th edition.|NCI|N|
C2984083|A term that refers to the staging of fallopian tube carcinoma according to the American Joint Committee on Cancer, 7th edition.|NCI|N|
C2984085|A term that refers to the staging of esophageal carcinoma according to the American Joint Committee on Cancer, 7th edition.|NCI|N|
C2984086|A term that refers to the staging of gastric carcinoma according to the American Joint Committee on Cancer, 7th edition.|NCI|N|
C2984087|A term that refers to the staging of colorectal carcinoma according to the American Joint Committee on Cancer, 7th edition.|NCI|N|
C2984088|A term that refers to the staging of colon carcinoma according to the American Joint Committee on Cancer, 7th edition.|NCI|N|
C2984089|A term that refers to the staging of rectal carcinoma according to the American Joint Committee on Cancer, 7th edition.|NCI|N|
C2984090|A term that refers to the staging of rectosigmoid carcinoma according to the American Joint Committee on Cancer, 7th edition.|NCI|N|
C2984092|A term that refers to the staging of hepatocellular carcinoma according to the American Joint Committee on Cancer, 7th edition.|NCI|N|
C2984093|A term that refers to the staging of gallbladder cancer according to the American Joint Committee on Cancer, 7th edition.|NCI|N|
C2984094|A term that refers to the staging of breast cancer according to the American Joint Committee on Cancer, 7th edition.|NCI|N|
C2984095|A term that refers to the staging of cutaneous melanoma, following the rules of the TNM AJCC v7 classification system.|NCI|N|
C2984096|A term that refers to the staging of lung carcinoma according to the American Joint Committee on Cancer, 7th edition.|NCI|N|
C2984097|A term that refers to the staging of prostate carcinoma according to the American Joint Committee on Cancer, 7th edition.|NCI|N|
C2984098|A term that refers to the staging of penile carcinoma according to the American Joint Committee on Cancer, 7th edition.|NCI|N|
C2984108|A term that refers to the staging of nasopharyngeal carcinoma according to the American Joint Committee on Cancer, 7th edition.|NCI|N|
C2984109|On most occasions, or in most situations.|NCI|N|
C2984110|A term that refers to the staging of oropharyngeal carcinoma according to the American Joint Committee on Cancer, 7th edition.|NCI|N|
C2984113|A term that refers to the staging of hypopharyngeal carcinoma according to the American Joint Committee on Cancer, 7th edition.|NCI|N|
C2984114|A term that refers to the staging of pharyngeal carcinoma according to the American Joint Committee on Cancer, 7th edition.|NCI|N|
C2984117|A term that refers to the staging of nasal cavity and paranasal sinus carcinoma according to the American Joint Committee on Cancer, 7th edition.|NCI|N|
C2984118|A term that refers to the staging of laryngeal carcinoma according to the American Joint Committee on Cancer, 7th edition.|NCI|N|
C2984217|An error in medication preparation or administration attributed to software.|NCI|N|
C2984218|Event in which data (charting, orders, results) is not correctly stored, transferred, updated, or displayed.|NCI|N|
C2984219|Event in which data is accessed by the healthcare provider and either the wrong patient or the wrong data is retrieved despite correct inquiry procedures.|NCI|N|
C2984233|The chemical reactions and pathways involving alpha-linolenic acid, an unsaturated omega-6 fatty acid that has the molecular formula C18H32O2. [PMID:15538555]|GO|N|
C2984256|The series of molecular signals initiated by neurotrophin binding to its receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription. Neurotrophins are a family of secreted growth factors that induce the survival, development, and function of neurons. [GOC:bf, GOC:jc, GOC:signaling, PMID:17466268, Wikipedia:Neurotrophin]|GO|N|
C2984323|The series of molecular signals initiated by binding of a ligand to a member of the ERBB family of receptor tyrosine kinases on the surface of a cell, and ending with the regulation of a downstream cellular process, e.g. transcription. [GOC:jc, PMID:16460914, Wikipedia:ErbB]|GO|N|
C2984395|The series of molecular signals initiated by binding of a ligand to a ERBB3 receptor on the surface of a cell, followed by transmission of the signal by a heterodimeric complex of ERBB2 and ERBB3. ERBB2, which does not bind any known ligand, is activated through formation of a heterodimer with another ligand-activated ERBB family member such as ERBB3. ERBB3 also has impaired kinase activity and relies on ERBB2 for activation and signal transmission. [GOC:signaling, PMID:16460914, Reactome:R-HSA-1963589]|GO|N|
C2984396|The series of molecular signals initiated by binding of a ligand to the tyrosine kinase receptor ERBB4 on the surface of a cell, and ending with the regulation of a downstream cellular process, e.g. transcription. [GOC:jc, PMID:16460914, Reactome:R-HSA-1236394]|GO|N|
C2984449|The series of molecular signals initiated by the binding of a ligand to a beta-type platelet-derived growth factor receptor (PDGFbeta) on the surface of a signal-receiving cell, and ending with the regulation of a downstream cellular process, e.g. transcription. [GOC:bf, GOC:signaling, GOC:yaf, PMID:10372961]|GO|N|
C2984468|A G protein-coupled receptor signaling pathway initiated by sphingosine-1-phosphate binding to its receptor on the surface of a cell, and ending with the regulation of a downstream cellular process, e.g. transcription. [GOC:ascb_2009, GOC:signaling, PMID:14592418, PMID:22001186, Reactome:R-HSA-419428]|GO|N|
C2984480|The series of molecular signals initiated by the binding of stem cell factor to the tyrosine kinase receptor KIT on the surface of a target cell, and ending with regulation of a downstream cellular process, e.g. transcription. Stem cell factor (KIT ligand) binding to the receptor Kit mediates receptor dimerization, activation of its intrinsic tyrosine kinase activity and autophosphorylation. The activated receptor then phosphorylates various substrates, thereby activating distinct signaling cascades within the cell that trigger a change in state or activity of the cell. [GOC:nhn, GOC:signaling, PMID:16129412]|GO|N|
C2984496|The series of molecular signals initiated by a ligand binding to a vascular endothelial growth factor receptor-1 (VEGFR-1) on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription. [GOC:bf, GOC:uh, Wikipedia:FLT1, Wikipedia:VEGF_receptors]|GO|N|
C2984497|The series of molecular signals initiated by a ligand binding to a vascular endothelial growth factor receptor-3 (VEGFR-3) on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription. [GOC:bf, GOC:uh, Wikipedia:VEGF_receptors, Wikipedia:VEGFR3]|GO|N|
C2984532|Stage I includes: IA: (T1, N0, M0); IB: (T2, N0, M0). T1: Tumor invades lamina propria or muscle layer. T1a: Tumor invades lamina propria. T1b: Tumor invades muscle layer. N0: No regional metastasis. M0: No distant metastasis. (AJCC 6th ed.)|NCI|N|
C2984533|Stage II includes: IIA: (T3, N0, M0); IIB: (T1, N0, M0); (T2, N0, M0); (T3, N0, M0). T2: Tumor perforates the serosa (visceral peritoneum) and/or directly invades the liver and/or one other adjacent organ or structure, such as the stomach, duodenum, colon, or pancreas, omentum or extrahepatic bile ducts. (AJCC 6th ed.)|NCI|N|
C2984534|Stage III includes: (T4, Any N, M0). T4: Tumor invades main portal vein or hepatic artery or invades multiple extrahepatic organs or structures. (AJCC 6th ed.)|NCI|N|
C2984535|Stage IV includes: (Any T, Any N, M1). M1: Distant metastasis. (AJCC 6th ed.)|NCI|N|
C2984602|A conclusion has yet to be established as the investigation is incomplete.|NCI|N|
C2984603|Problems traced to the design specifications (e.g. in the requirements, testing processes, hazard analysis, implementation strategy).|NCI|N|
C2984604|Problems including set-up, operation, and disassembly of equipment. Not including reprocessing.|NCI|N|
C2984606|An existing condition or disease is demonstrably responsible for the adverse event and use of the device has neither caused nor otherwise influenced this condition/disease-related adverse event.|NCI|N|
C2984607|Problems traced to the user not following the manufacturer''s instructions.|NCI|N|
C2984610|The undesirable presence of living organisms such as bacteria, fungi, or viruses or their products (enzymes or toxins).|NCI|N|
C2984611|Reported adverse event known and documented in the labeling (including both short or long term known complications or adverse reactions).|NCI|N|
C2984612|Problems that occur as the result of problems with the labeling (including package inserts, instruction manuals, instructions for use).|NCI|N|
C2984613|Problems traced to improper routine or preventative maintenance.|NCI|N|
C2984614|Problems traced to manufacturing process.|NCI|N|
C2984618|A defect in the processes or systems used in the manufacture of the device. Examples include problems within the change control, production, or quality control processes.|NCI|N|
C2984622|Problems caused by inadequate training.|NCI|N|
C2984625|Problems traced to the intentional use of the device in an unapproved procedure, for an unapproved patient, or for which it is contraindicated, or not listed on the label.|NCI|N|
C2984626|Problems traced to the use of the device more than once when it is designed for only one use.|NCI|N|
C2984627|The device complaint or problem cannot be confirmed.|NCI|N|
C2984628|The interaction between the user and device, or sample, caused or contributed to the error. This includes unintended inappropriate use of the device and incorrect sample preparation.|NCI|N|
C2984761|Problems that occurred because the device was assembled incorrectly.|NCI|N|
C2984762|The device causes cellular or tissue responses that elicit an undesirable local or systemic effect in the recipient or beneficiary of that therapy. (See ISO 10993)|NCI|N|
C2984763|Problems relating to, caused by or affecting biological processes or living organisms.|NCI|N|
C2984764|The device''s ability to trigger development of cancer.|NCI|N|
C2984767|Devices that do not send or receive adequate signals (this speaks to the interoperability between devices).|NCI|N|
C2984768|The device affects the body''s ability to activate the complement system of the immune system, thereby interfering with the ability to clear pathogens. This may be caused by an interaction of the device with chemicals or materials.|NCI|N|
C2984770|Problems related to electromagnetic interference (EMI) by physical contact with conductors (e.g. wires, resistors, terminals) as opposed to radiated EMI which is caused by induction (without physical contact of the conductors).|NCI|N|
C2984771|Problems due to change control or incorrect version, including regional requirements.|NCI|N|
C2984772|Data was lost or corrupted during the operation of reducing storage space or communication bandwidth.|NCI|N|
C2984773|Problems caused by changes in the shape or size of the device due to an applied force. This can be a result of tensile forces, compressive forces, shear, bending, tensile (pulling), or torsion.|NCI|N|
C2984774|Problems that occur when the device becomes worn, weakened, corroded, or broken down due to processes such as aging, permeation, and corrosion.|NCI|N|
C2984775|The device had faulty (incomplete or incorrect) software design.|NCI|N|
C2984776|A device that experienced problems due to ingress, or coating, of dust or dirt.|NCI|N|
C2984777|Problems related to leakage currents which may cause electric shock. These currents usually flow through the protective ground conductor. In its absence, these currents could flow from the device to the ground via the human body.|NCI|N|
C2984778|Events associated with an electrically powered device where an electrical malfunction results in a device problem (e.g. electrical circuitry, contact or component failed) even if the problem is intermittent.|NCI|N|
C2984779|Device-to-device or device-environment problem resulting from electromagnetic disturbances.|NCI|N|
C2984780|Problems due to sudden and momentary bursts of electrical current flowing between two objects at different electrical potentials.|NCI|N|
C2984781|Problems traced to the device reaching the end of its useful life.|NCI|N|
C2984782|The undesirable presence of toxins associated with certain bacteria (e.g. gram negative bacteria).|NCI|N|
C2984783|Problems related to the energy storage system (e.g. the rechargeable battery, charging system, or capacitor) and includes problems such as premature power source depletion and battery explosions.|NCI|N|
C2984784|Problems that occurred due to factors within the environment e.g. dust, dirt, humidity, temperature.|NCI|N|
C2984785|Problems due to the weakening or breakdown of its material when subjected to stress or a series of repeated stresses.|NCI|N|
C2984786|The undesirable presence of living organisms such as bacteria, fungi, or viruses or their products (enzymes or toxins).|NCI|N|
C2984787|Problems caused by the separation of a component, object, or material into two or more pieces including shear.|NCI|N|
C2984788|Problems caused by its surface coming in contact with another surface or fluid.|NCI|N|
C2984789|The device''s ability to cause damage to genetic material (e.g. leading to malignant tumors).|NCI|N|
C2984790|Problems that result from the gradient-induced fields generated during radiologic procedures e.g. magnetic resonance imaging.|NCI|N|
C2984791|Problems that results from improper sequential activation of components.|NCI|N|
C2984792|The device affects or impacts the blood or its components. (See ISO 10993 all parts)|NCI|N|
C2984793|Device performance was affected by the humidity, or changes in humidity, of the environment in which it was used.|NCI|N|
C2984794|The unacceptable distortion of an image due to signal loss that may occur during a radiologic procedure such as magnetic resonance imaging.|NCI|N|
C2984795|Problems due to insufficient or excessive resistance to current flow either by the device or circuit.|NCI|N|
C2984796|Problems associated with the improper combination of materials or elements present in the device (e.g. improper composition of the materials of a capacitor).|NCI|N|
C2984797|Problems that occur due to the presence of a material that should not be present or part of the device.|NCI|N|
C2984798|A device that malfunctions due to a component(s)/accessory that does not operate correctly and according to the device''s specifications.|NCI|N|
C2984799|A device that malfunctions because it was incorrectly installed, set-up, or configured (e.g. misconfiguration of an ""automatic"" defibrillator to ""semi-automatic"", thereby leading to failure).|NCI|N|
C2984800|Problems due to inadequate or incorrect electrical insulation material.|NCI|N|
C2984801|The device software was found to contain errors in the user interface (including usability problems) or the interfaces with other systems.|NCI|N|
C2984802|Problems with the mechanical, electrical, or communication interface between two or more separate devices.|NCI|N|
C2984803|Insufficient, inadequate, or incorrect information provided on a device''s label or documentation regarding e.g. its intended use, directions for use, and characteristics of the device, including its maintenance.|NCI|N|
C2984804|A device that experienced problems due to a loss in the power supply.|NCI|N|
C2984805|Problems that occurred because of the presence of either too much or too little lubricant where required (e.g. connectors, leading to failure mechanisms such as corrosion).|NCI|N|
C2984806|Problems due to unintended or excessive movement created by the application of magnetic fields.|NCI|N|
C2984807|A device malfunction or problem that occurs after production because the device was not properly maintained according to the instructions (e.g. maintenance may be performed by user facility, distributor, or service provider).|NCI|N|
C2984808|Problems with a device that can be traced to a problem in the manufacturing and/or production process.|NCI|N|
C2984809|The undesirable presence of pyrogens or fever-producing organisms caused by materials that permeate through the device.|NCI|N|
C2984810|Problems with the device materials or how its materials react to other elements either within the device or within the environment.|NCI|N|
C2984811|Problems that result from internal or external forces including fluids, other objects, or environmental or physiologic influences.|NCI|N|
C2984812|Problems caused by the sudden violent blow or collision to the whole device (e.g. by dropping).|NCI|N|
C2984813|The undesirable presence of microorganisms or microbes such as bacteria and fungi (yeasts and molds).|NCI|N|
C2984814|The device''s ability to change genetic information (usually DNA) of an organism and thus increasing the frequency of mutations.|NCI|N|
C2984815|The device either functioned as intended or a problem was not found.|NCI|N|
C2984816|Use when no investigation can be performed and therefore no results will be obtained.|NCI|N|
C2984817|The device software contained software errors that did not impact its operation.|NCI|N|
C2984819|Problem due to an electrical circuit that does not conduct current because a switch is open, a wire is broken, etc.|NCI|N|
C2984820|Problems that occur during the performance, use, or functioning of the device.|NCI|N|
C2984821|Problems related to the optical properties of a device.|NCI|N|
C2984822|Problems with the device''s ability to pass light energy.|NCI|N|
C2984825|Problems that occurred because of a compromised packaging of the device (e.g. broken or incomplete seal).|NCI|N|
C2984826|Problems that occurred because of the device packaging.|NCI|N|
C2984827|The device affects the body''s ability to activate platelet formation.|NCI|N|
C2984828|The device failed due to fluctuations within the power supply (e.g. transient power, power spike, power dip, or power sequencing).|NCI|N|
C2984829|Problems related to the source that provides electrical power to the device.|NCI|N|
C2984830|Problems related to the system(s) designed to prevent or warn about unsafe operation of the device.|NCI|N|
C2984831|Problems traced to the failure to maintain or establish techniques for controlling and verifying the product specifications (including materials used) identified by the manufacturer himself.|NCI|N|
C2984832|Problems due to unintended radiofrequency-induced temperature increase that can occur in the vicinity of the device.|NCI|N|
C2984833|Problems due to radiofrequency interference. RFI is a disturbance that affects an electrical circuit due to either electromagnetic conduction or electromagnetic radiation emitted from an external source.|NCI|N|
C2984834|Problems that occur with devices used for radiographic or imaging procedures e.g. CT scanners, magnetic resonance imaging.|NCI|N|
C2984835|Problems that occur due to the reactivity of materials (e.g. over-react or under-react).|NCI|N|
C2984836|The device affects reproductive function, embryo development (teratogenicity), and prenatal and early postnatal development. (ISO 10993 part 3)|NCI|N|
C2984838|Problems traced to how the device was transported e.g. temperature of shipping compartment or method of transportation.|NCI|N|
C2984839|Problems due to an unintentionally low-resistance connection between two points in an electric circuit, resulting in either excessive current flow that often causes damage or in a new shorter circuit that draws current away from the original pathways and components.|NCI|N|
C2984840|Problems due to the loss or weakening of an electrical signal or signals.|NCI|N|
C2984842|The device software was not installed as per the specifications or failed to properly install.|NCI|N|
C2984844|Problems related to the device software.|NCI|N|
C2984845|The software requirements for the device are either incomplete, inadequate, or in conflict.|NCI|N|
C2984846|The device software failed during operation as a result of a coding error.|NCI|N|
C2984847|The device software failed to provide adequate authorization, access control, protection and accountability features.|NCI|N|
C2984848|Problems that results from the incorrect sequencing or activation of software modules.|NCI|N|
C2984849|Problems that occurred when its material is either too flexible/pliable or inflexible/rigid when in contact by an applied force.|NCI|N|
C2984850|Problems that result from storing the device in an uncontrolled or improper environment (e.g. moisture sensitive devices stored in a humid environment).|NCI|N|
C2984851|Problems caused by either excessive or inadequate physical force exerted on it by another object resulting in problems e.g. wear, bending, deformation, fracture, fatigue.|NCI|N|
C2984852|Problems related to the presence of an inappropriate molecular geometry somewhere in the device (i.e. the spatial arrangement of atoms in a molecule and the chemical bonds that hold the atoms together).|NCI|N|
C2984853|Problems related to the temperature of the device.|NCI|N|
C2984854|The device causes the formation of blood clots in or along blood vessels resulting in disturbed or disrupted blood flow.|NCI|N|
C2984855|Problems that result from a combination of specification variances of the components.|NCI|N|
C2984860|Problems that result from a combination of specification variances of the components.|NCI|N|
C2984861|Problems due to the premature or expected erosion of its material by use, deterioration, or change.|NCI|N|
C2984862|Communications problems between devices within a wired system.|NCI|N|
C2984863|Communications problems between devices within a wireless system.|NCI|N|
C2984864|Problems related to the incorrect or inadequate arrangement of the parts, components, elements, or materials.|NCI|N|
C2984865|Device performance was affected by the temperature, or changes in temperature, of the environment in which it was used.|NCI|N|
C2984866|Problems related to immunity or capabilities to resist electromagnetic interference (EMI).|NCI|N|
C2984867|Missing, incorrect, or inappropriate information on the labels e.g. mislabeled contents or device labeling characteristics or package contents|NCI|N|
C2984868|Inadequate information on the labels or in the instructions for use e.g. steps that are difficult to follow or that are missing.|NCI|N|
C2984870|Problems that occur due to the incompatibility of materials that co-exist simultaneously as part of the device.|NCI|N|
C2984872|The device software was found to contain errors in specifying or manipulating data items.|NCI|N|
C2984873|The device software was found to implement an incorrect sequence of steps for a specific computation.|NCI|N|
C2984874|Investigation is ongoing and results are not yet available. Do not use this code if the investigation is complete.|NCI|N|
C2984891|A somatic mutation of the epidermal growth factor receptor gene which encodes a constitutively active 170kDa transmembrane protein, a short transmembrane region, and an intracellular domain.|NCI|N|
C2984896|A benign tubular adenoma with Sertoli cell differentiation.|NCI|N|
C2984897|A composite pheochromocytoma that is confined to the adrenal gland.|NCI|N|
C2984898|A benign schwannoma occurring in the eye.|NCI|N|
C2984899|A malignant epithelial neoplasm arising from the pars intermedia of the anterior pituitary gland.|NCI|N|
C2984900|An adrenal gland composite pheochromocytoma that metastasizes to other anatomic sites.|NCI|N|
C2984901|A malignant peripheral nerve sheath tumor that affects the esophageal wall.|NCI|N|
C2984902|A malignant peripheral nerve sheath tumor that occurs in the intraocular area.|NCI|N|
C2984909|The extent of organ/tissue involvement by a malignant neoplasm is not reported or not assessed.|NCI|N|
C2984918|An electrocardiographic finding in which there are two R waves, which are two deflections above the baseline resulting from a single ventricular depolarization. The first upward deflection in the complex is the R wave. The S is the first downward deflection. A second upward deflection is called the R-prime wave.|NCI|N|
C2984919|An electrocardiographic finding in which the QT interval corrected for heart rate using Bazett''s formula is slightly prolonged. Thresholds for different age, gender, and patient populations exist. (CDISC)|NCI|N|
C2984920|An electrocardiographic finding in which the QT interval corrected for heart rate using Fridericia''s formula is slightly prolonged. Thresholds for different age, gender, and patient populations exist. (CDISC)|NCI|N|
C2984922|An electrocardiographic finding in which there is evidence that electrical transmission through the left ventricle is impaired. (CDISC)|NCI|N|
C2984923|An electrocardiographic finding in which both the atrial and ventricular rhythm are controlled by an electrical impulse from an artificial cardiac pacemaker. (CDISC)|NCI|N|
C2984924|An electrocardiographic finding in which there is evidence that electrical transmission through the right ventricle is impaired with a maximal QRS duration of 110 ms and which does not meet the criteria for Incomplete Right Bundle Branch Block. (CDISC)|NCI|N|
C2985135|A benign or malignant lesion that arises within the bronchial wall.|NCI|N|
C2985170|The occurrence of multiple and independent glioblastomas that are unrelated to inherited neoplastic syndromes.|NCI|N|
C2985171|A rare, WHO grade II or III infiltrating astrocytoma characterized by the presence of sharply demarcated foci, composed of a neuropil-like matrix.|NCI|N|
C2985172|A morphologic finding indicating the presence of foci of neuropil-like matrix that are immunostained positive for synaptophysin in infiltrating astrocytomas.|NCI|N|
C2985173|A morphologic finding indicating the presence of neoplastic cells that display ependymal cell features.|NCI|N|
C2985174|A rare mixed neuronal-glial tumor characterized by a supratentorial space-occupying lesion in periventricular location, often with prominent cystic change. The histological hallmark of this low-grade neoplasm is its pseudopapillary appearance with a single layer of cuboidal cells around hyalinized blood vessels, associated with sheets or focal collections of neuronal cells. Clinical presentation is variable and non-specific, most frequently with headache and seizures. Prognosis is favorable after complete resection.|ORDO|N|
C2985175|A variant of central neurocytoma, a rare neuronal neoplasm, composed of round cells with neuronal differentiation, which is located outside of the ventricular system, usually within the spinal cord or cerebral hemispheres and that manifests with headache, nausea, vomiting, complex partial seizures or focal neurological deficits. In some cases it may exhibit atypical features consistent with aggressive clinical behaviour.|SNOMEDCT_US|N|
C2985217|Negative physical or emotional health outcomes resulting from high job demands with low job decision latitude.|NCI|N|
C2985218|An anxiety disorder in which the symptoms of anxiety have been determined to be etiologically related to the direct physiological effects of a substance (i.e., a drug of abuse, a medication, or toxin exposure).|NCI|N|
C2985219|Papillary tumor of the pineal region (PTPR) is a very rare neoplasm of the pineal region that is thought to arise from the specialized ependymocytes of the subcommissural organ and that manifests with visual disturbances, headaches, loss of coordination and balance, nausea and vomiting due to obstructive hydrocephalus.|ORDO|N|
C2985220|A medulloblastoma characterized by marked nuclear pleomorphism, and high mitotic activity.|NCI|N|
C2985224|A disorder characterized by the acute and sudden development of changes in attention, memory, language and/or perception that can be etiologically linked to the direct physiological consequences of substance intoxication.|NCI|N|
C2985225|A disorder characterized by the acute and sudden development of changes in attention, memory, language and/or perception that can be etiologically linked to the direct physiological consequences of substance withdrawal.|NCI|N|
C2985226|A disorder involving memory impairment (either anterograde or retrograde) that is etiologically linked to the persisting effects of substance use. The memory impairment persists beyond the usual duration of substance intoxication or withdrawal.|NCI|N|
C2985230|A malignant peripheral nerve sheath tumor characterized by the presence of mesenchymal differentiation. Representative example is the malignant Triton tumor which contains a rhabdomyosarcomatous component.|NCI|N|
C2985234|A solitary fibrous tumor that arises from the meninges. It most often corresponds to the tumor previously diagnosed as anaplastic hemangiopericytoma.|NCI|N|
C2985235|A reference to someone other than the subject as being the one who has had an episode of the condition of interest, such as a disease.|NCI|N|
C2985265|Symptom, signs, test results in a pregnant mother childbirth.|NCI|N|
C2985268|The various distinct periods of the labor and childbirth process. It involves uterine contractions and cervical dilation to expel the fetus and for the baby to be born.|NCI|N|
C2985269|An abnormality in the position of the fetus during the labor and delivery process.|NCI|N|
C2985270|A fetal position during delivery in which the head of the fetus faces the mother''s back.|NCI|N|
C2985271|An assessment of the fetus or the newborn infant for growth and size that is considered within normal ranges.|NCI|N|
C2985276|A type of labor where the labor pain or discomfort is felt by the pregnant mother in her back.|NCI|N|
C2985281|The protrusion in the perineal area during the second stage of labor. It is the characteristic sign of impending birth and is caused by increased pressure in the region.|NCI|N|
C2985283|A variation in the dimensions of the uterus.|NCI|N|
C2985287|A characteristic sign of impending birth where the anal opening becomes wider due to increased pressure in the perineal region during the second stage of labor.|NCI|N|
C2985289|A characteristic complaint in a fertile woman that is indicative of a pregnancy.|NCI|N|
C2985290|A group of disorders caused by a prenatal exposure to maternal consumption of alcohol leading to a range of behavioral, cognitive and neurological deficits in the offspring. It is characterized by physical growth problems, distinct facies, and varying psycho-neurological issues.|NCI|N|
C2985293|The site of fetal cardiac sounds that can be distinctly detected in relation to the maternal abdomen.|NCI|N|
C2985294|A stage during labor and childbirth that starts with the delivery of the placenta and lasts about two hours after delivering the baby.|NCI|N|
C2985299|The period of time prior to the beginning of childbirth labor; common signs and symptoms include nesting, anxiety, excitement, loss of mucous plug, increased urinary frequency and loose bowel movements.|NCI|N|
C2985300|A powerful, temporary tensing of the uterine muscles that is stronger than previously felt movements.|NCI|N|
C2985301|Fetal heart rate decelerations that occur with less than 50 percent of uterine contractions within a 20 minute timeframe.|NCI|N|
C2985303|An abnormal bleeding through the vagina that occurs during the last trimester of pregnancy.|NCI|N|
C2985304|A fetal position during delivery in which the head of the fetus is in the birth canal facing the area between the right hip and the spine of the mother.|NCI|N|
C2985306|The elevation of body temperature in a pregnant mother above 38 degrees C or more than 101 degrees F, and may be indicative of an infection.|NCI|N|
C2985307|A symptomatic decrease in baseline systolic or diastolic blood pressure in a pregnant woman that requires intervention.|NCI|N|
C2985309|A position of the fetus during the labor and delivery process where the fetal chin is mildly flexed but with a forward facing head.|NCI|N|
C2985310|A discharge of the mucus plug from the cervical os during cervical dilation in preparation for the labor and delivery of the baby.|NCI|N|
C2985311|A decrease in the fetal heart beat rate below 110 per minute or below the normal baseline value expected for the particular fetal age for a period of more than 10 minutes.|NCI|N|
C2985312|A fetal heart rate above 160 bpm that is sustained for longer than 10 minutes.|NCI|N|
C2985313|A physical feeling of being able to breathe better during late trimester of pregnancy when the baby starts to descend lower into the pelvic cavity.|NCI|N|
C2985314|The expulsion of the placenta with presentation of the maternal rough side first, rather than the usual fetal side of the placenta.|NCI|N|
C2985315|The separation of the placenta from the uterine wall during labor; it begins at the placental center and leads to an expulsion of the placenta after delivery of the baby.|NCI|N|
C2985316|A process in childbirth in which the placenta separates from its uterine lining, after the delivery of the baby.|NCI|N|
C2985317|The tenderness of the breasts during pregnancy due to changes in the hormonal levels and increased breast tissue growth.|NCI|N|
C2985318|Alterations in the skin''s appearance during pregnancy due to hormonal level changes.|NCI|N|
C2985322|Fetal heart rate decelerations that occur with greater than or equal to 50 percent of uterine contractions within a 20 minute timeframe. Applies to early, late or variable decelerations.|NCI|N|
C2985324|A fetal position during delivery in which the fetus is in the birth canal and the back of the head is oriented towards the maternal right thigh region.|NCI|N|
C2985325|A non-sustained irregular fetal heart rate in comparison to normal baseline values.|NCI|N|
C2985326|The indicating characteristics in a pregnant mother who is in the process of labor and delivery of a fetus; common signs and symptoms include nesting, anxiety, excitement, loss of mucous plug, increased urinary frequency and loose bowel movements.|NCI|N|
C2985327|A fetal position during delivery in which the frontal part of the skull including forehead and the top of the head is first to descend into the birth canal.|NCI|N|
C2985335|A fetal position during delivery in which the face is towards one of the mother''s thighs while descending into the birth canal.|NCI|N|
C2985336|A characteristic sign of impending birth in the mother during the second stage of labor; she feels like bearing down due to the pressure of the baby in the birth canal.|NCI|N|
C2985338|Atrophy or reduction of the size of the uterine corpus.|NCI|N|
C2985339|Greater than 5 contractions in 10 minutes averaged over a 30 minute window.|NCI|N|
C2985346|A reference point for the fetal position when the fetal heart rate is detected above the mother''s umbilicus.|NCI|N|
C2985347|A reference point for the fetal position when the fetal heart rate is detected below the mother''s umbilicus.|NCI|N|
C2985351|The fluctuations in the mental and emotional state of an individual during pregnancy.|NCI|N|
C2985353|The various distinct periods during the first stage of labor and childbirth; such as a latent, active or a transition phase.|NCI|N|
C2985354|From the onset of labor to the onset of the active phase. (reVITALize)|NCI|N|
C2985355|The period during the first stage of labor and childbirth that involves strong uterine contractions and maximal cervical dilatation.|NCI|N|
C2985356|Accelerated cervical dilation typically beginning at 6 cm.|NCI|N|
C2985357|A neoplasm that originates from histiocytes and accessory cells and affects the central nervous system. It is usually associated with the presence of identical tumors outside the central nervous system. Representative examples include Langerhans cell histiocytosis, histiocytic sarcoma, and follicular dendritic cell sarcoma.|NCI|N|
C2985399|An occlusion of the hepatic artery.|NCI|N|
C2985436|A genetic variation that is known to be associated with an increased risk of disease.|NCI|N|
C2985439|A gene mutation in an individual that was not present in or transmitted from their ancestors. This type of mutation generally occurs spontaneously during the process of cell division-associated DNA replication during embryonic or fetal development.|NCI|N|
C2985448|A sarcoma that arises in the bones or soft tissues following exposure to ionizing or non-ionizing radiation.|NCI|N|
C2985506|An increase in serum prostate-specific antigen (PSA) levels following treatment for prostate cancer.|NCI|N|
C2985524|High risk of developing malignant rhabdoid tumours that are highly aggressive and rare in the general population. The tumours usually occur in the first year of life, however for those with this syndrome they occur at an average age of 4 to 7 months or even before birth. The tumours spread more quickly than those in children without this predisposition, and affected individuals often do not survive past childhood. More than half of the tumours develop in the cerebellum, but can also occur outside the central nervous system. Caused by mutations in the SMARCB1 gene. These cases are sometimes known as RTPS1. A small number of cases (called RTPS2) are caused by mutations in the SMARCA4 gene. The majority of cases are caused by SMARCB1 gene mutations which may occur in people with no history of the disorder in their family.|SNOMEDCT_US|N|
C2985628|An assessment result of the final state in a person who experienced an adverse event, which takes place after the adverse event occurs.|NCI|N|
C2985629|A reusable, ""template"" description of a possible outcome of an observation.|NCI|N|
C2985630|A reusable, ""template"" description of an allowable response to a stratification criterion.|NCI|N|
C2985631|A result of a clinical observation, i.e. from an examination, test or direct observation performed on the subject.|NCI|N|
C2985632|The case history of a subject.|NCI|N|
C2985633|The finding obtained by observing, monitoring, measuring or otherwise qualitatively or quantitatively recording one or more aspects of physiologic or psychologic processes.|NCI|N|
C2985634|Information captured while conducting research on a product.|NCI|N|
C2985635|The possible or expected results that can be obtained by observing, monitoring, measuring or otherwise qualitatively or quantitatively recording one or more aspects of physiologic or psychologic processes.|NCI|N|
C2985645|The completed activity for determining issues associated with products. May be based on FDA CDRH Conclusion Codes.|NCI|N|
C2985723|Specifies whether the entity is a starting point to which other things may be compared.|NCI|N|
C2985724|Specifies whether an entity is considered a biomarker.|NCI|N|
C2985739|Specifies whether a finding or condition is clinically significant based on judgment.|NCI|N|
C2985750|Specifies whether the life of an entity has ceased.|NCI|N|
C2985757|The result or product of multiplying dimensions.|NCI|N|
C2985768|Specifies whether the entity, event or activity is considered probable or likely.|NCI|N|
C2985769|Specifies whether the subject has abstained from food and possibly water for the prescribed amount of time.|NCI|N|
C2985799|Specifies whether a planned or preestablished event or activity did not occur.|NCI|N|
C2985829|Specifies whether the position is filled.|NCI|N|
C2985847|Specifies whether this is a reappearance of an entity, event or activity.|NCI|N|
C2985856|Specifies whether the anatomical parts of the body involved in reproduction are present or absent.|NCI|N|
C2985981|Data or information that is determined by an act of observation.|NCI|N|
C2986123|The result or product of multiplying dimensions (2 or 3) of a site or specimen.|NCI|N|
C2986138|Data or information that is determined by an act of observation.|NCI|N|
C2986236|Data or information that is determined by an act of observation.|NCI|N|
C2986417|This term applies to a family member in whom the diagnosis that is the primary focus of investigation is excluded.|HPO|N|
C2986463|An indication that expression of androgen receptor has been detected in a sample.|NCI|N|
C2986536|Necrosis of the mandible or maxilla in patients receiving intravenous or oral bisphosphonate therapy. It usually manifests with slow healing or failure to heal of a jaw bone following oral surgery. In a minority of cases, the necrosis appears spontaneously. Signs and symptoms include pain, swelling and infection of the affected area.|NCI|N|
C2986550|A solid, low grade, spindle cell, glial neoplasm of adults that originates in the neurohypophysis or infundibulum. Clinical signs and symptoms include visual disturbance, headache and features of hypopituitarism. Pituicytomas are well-circumscribed, solid masses that can measure up to several centimeters. Histologically, they show a compact architecture consisting of elongate, bipolar spindle cells arranged in interlacing fascicles or assuming a storiform pattern.|HPO|N|
C2986551|A finding indicating that two or more tumors have merged to create a single cancerous mass.|NCI|N|
C2986558|A qualitative or quantitative measurement of the response of a target lesion(s) to the therapy.|NCI|N|
C2986559|A qualitative or quantitative measurement of the response of a non-target lesion(s) to the therapy.|NCI|N|
C2986560|The most clinically favorable response recorded from the start of the study treatment until the end of treatment.|NCI|N|
C2986561|A very rare, WHO grade 1 neoplasm of the posterior pituitary. It is characterized by the presence of spindle cells with eosinophilic, granular cytoplasm forming fascicles. Electron microscopic studies demonstrate the accumulation of intracytoplasmic mitochondria and lack of secretory granules. Immunohistochemical studies are negative for pituitary hormones. Patients may present with pituitary hypofunction, visual disturbances, headache, nausea and vomiting. The clinical course is usually benign.|NCI|N|
C2986571|Tooth decay that extends through the enamel into the dentin layer.|NCI|N|
C2986572|Tooth decay that is restricted to the enamel layer.|NCI|N|
C2986573|Tooth decay of an unspecified location.|NCI|N|
C2986574|Noise in the temporomandibular joint, with or without pain, when fully opening the jaw.|NCI|N|
C2986580|Projection of a tooth beyond its normal position.|NCI|N|
C2986611|A morphologic finding indicating the presence of necrotic epithelial cells, neutrophils, karyorrhectic debris, and fibrin in the lumen of malignant glands. It was initially described in colonic adenocarcinomas, but it has also been observed in adenocarcinomas that arise in other anatomic sites, including lungs and ovaries.|NCI|N|
C2986622|A neoplastic process in the cervix characterized by morphologic features of both moderate and severe intraepithelial neoplasia.|NCI|N|
C2986655|A hormone producing endocrine neoplasm, associated with a hormonal syndrome.|NCI|N|
C2986656|A hormone producing or non-producing endocrine neoplasm, not associated with a hormonal syndrome.|NCI|N|
C2986658|A rare glial tumor characterized by a highly aggressive, diffusely infiltrative pontine lesion generally occurring in children, affecting local nerve fiber tracts and spreading contiguously to involve adjacent structures, but also metastasizing within the central nervous system. Patients mostly present with a short history of symptoms, typically including the classic triad of multiple cranial neuropathies, long tract signs, and ataxia. Signs and symptoms of increased intracranial pressure may present due to obstructive hydrocephalus. Prognosis is poor and not related to histological grade.|ORDO|N|
C2986660|Stage 0 includes: Tis, N0, M0. Tis: Carcinoma in situ. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th, 7th, and 8th eds.)|NCI|N|
C2986662|Breast carcinoma that is bilateral or otherwise multifocal.|HPO|N|
C2986663|A term that usually refers to cancer growth and is defined by the presence of multiple lesions, each originating from a different clonal cellular population.|NCI|N|
C2986664|A breast carcinoma characterized by the presence of multiple cancerous tumors that originate from different clones and are usually located in different quadrants of the breast.|NCI|N|
C2986665|Breast carcinoma that has not spread beyond the breast and the axillary lymph nodes.|NCI|N|
C2986666|For hepatocellular carcinoma: Stage I includes: T1, N0, M0. T1: Solitary tumor without vascular invasion. N0: No regional lymph node metastasis. M0: No distant metastasis. For intrahepatic cholangiocarcinoma: Stage I includes: T1, N0, M0. T1: Solitary tumor without vascular invasion. N0: No regional lymph node metastasis. M0: No distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2986667|For hepatocellular carcinoma: Stage II includes: T2, N0, M0. T2: Solitary tumor with vascular invasion or multiple tumors none more than 5 cm. N0: No regional lymph node metastasis. M0: No distant metastasis. For intrahepatic cholangiocarcinoma: Stage II includes: T2, N0, M0. T2: Solitary tumor with vascular invasion or multiple tumors, with or without vascular invasion. N0: No regional lymph node metastasis. M0: No distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2986670|For hepatocellular carcinoma: Stage IIIA includes: T3a, N0, M0. T3a: Multiple tumors more than 5 cm. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C2986671|For hepatocellular carcinoma: Stage IIIB includes: T3b, N0, M0. T3b: Single tumor or multiple tumors of any size involving a major branch of the portal vein or hepatic vein. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C2986673|For hepatocellular carcinoma: Stage IV includes: IVA: (Any T, N1, M0); IVB: (Any T, Any N, M1). N1: Regional lymph node metastasis. M0: No distant metastasis. M1: Distant metastasis. For intrahepatic cholangiocarcinoma: Stage IVA includes: (T4, N0, M0); (Any T, N1, M0). T4: Tumor with periductal invasion. N0: No regional lymph node metastasis. N1: Regional lymph node metastasis. M0: No distant metastasis. Stage IVB includes: Any T, Any N, M1. M1: Distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2986677|Ann Arbor Classification: Stage I: Involvement of a single lymph node region (I); or localized involvement of a single extralymphatic organ or site in the absence of any lymph node involvement (IE).|NCI|N|
C2986678|Ann Arbor Classification: Stage II: Involvement of two or more lymph node regions on the same side of the diaphragm (II); or localized involvement of a single extralymphatic organ or site in association with regional lymph node involvement with or without involvement of other lymph node regions on the same side of the diaphragm (IIE).|NCI|N|
C2986679|Ann Arbor Classification: Stage III: Involvement of lymph node regions on both sides of the diaphragm (III), which also may be accompanied by extralymphatic extension in association with adjacent lymph node involvement (IIIE) or by involvement of the spleen (IIIS) or both (IIIE,S).|NCI|N|
C2986680|Ann Arbor Classification: Stage IV: Diffuse or disseminated involvement of one or more extralymphatic organs, with or without associated lymph node involvement; or isolated extralymphatic organ involvement in the absence of adjacent regional lymph node involvement, but in conjunction with disease in distant site(s); or any involvement of the liver or bone marrow, lungs (other than by direct extension from another site), or cerebrospinal fluid.|NCI|N|
C2986682|The reemergence of a malignant neoplasm after a period of remission at the site of the original tumor or adjacent to it.|NCI|N|
C2986683|Ann Arbor Classification: Stage I: Involvement of a single lymph node region (I); or localized involvement of a single extralymphatic organ or site in the absence of any lymph node involvement (IE) (rare in Hodgkin lymphoma).|NCI|N|
C2986684|Ann Arbor Classification: Stage II: Involvement of two or more lymph node regions on the same side of the diaphragm (II); or localized involvement of a single extralymphatic organ or site in association with regional lymph node involvement with or without involvement of other lymph node regions on the same side of the diaphragm (IIE).|NCI|N|
C2986685|Ann Arbor Classification: Stage III: Involvement of lymph node regions on both sides of the diaphragm (III), which also may be accompanied by extralymphatic extension in association with adjacent lymph node involvement (IIIE) or by involvement of the spleen (IIIS) or both (IIIE,S).|NCI|N|
C2986686|Ann Arbor Classification: Stage IV: Diffuse or disseminated involvement of one or more extralymphatic organs, with or without associated lymph node involvement; or isolated extralymphatic organ involvement in the absence of adjacent regional lymph node involvement, but in conjunction with disease in distant site(s); or any involvement of the liver or bone marrow, lungs (other than by direct extension from another site), or cerebrospinal fluid.|NCI|N|
C2986691|A group of inherited genetic hematopoietic stem cell disorders characterized by bone marrow failure that involves one or more cell lines. Representative examples include Fanconi anemia, Diamond-Blackfan anemia, and Shwachman-Diamond syndrome.|NCI|N|
C2986693|A morphologic finding indicating that the cutaneous melanoma is confined to the epidermis and does not invade the dermis.|NCI|N|
C2986694|A morphologic finding indicating that the cutaneous melanoma has invaded part of the papillary dermis but the malignant cellular infiltrate has not reached the papillary-reticular dermis interface.|NCI|N|
C2986695|A morphologic finding indicating that the cutaneous melanoma has invaded the entire thickness of the papillary dermis but the malignant cellular infiltrate does not extend into the reticular dermis.|NCI|N|
C2986696|A morphologic finding indicating that the cutaneous melanoma has invaded the reticular dermis.|NCI|N|
C2986697|A morphologic finding indicating that the cutaneous melanoma has invaded the subcutaneous tissue.|NCI|N|
C2986699|Stage I includes: T1, N0, M0. T1: Tumor limited to ovaries (one or both). N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C2986700|Stage II includes: T2, N0, M0. T2: Tumor involves one or both ovaries with pelvic extension and/or implants. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C2986701|Stage III includes: T3, N0, M0. T3: Tumor involves one or both ovaries with microscopically confirmed peritoneal metastasis outside pelvis. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C2986702|Stage IV includes: Any T, Any N, M1. M1: Distant metastasis (excludes peritoneal metastasis). (AJCC 6th and 7th eds.)|NCI|N|
C2986703|A group of syndromes caused by genetic birth defects that may lead to the development of malignancies. It is characterized by a large body size or large body parts at birth, or excessive body growth early in childhood. Representative examples include neurofibromatosis, Beckwith-Wiedemann syndrome, and Sturge-Weber syndrome.|NCI|N|
C2986705|Leukoplakia of the oral mucosa that is clinically characterized by the presence of erythematous or red and white patches.|NCI|N|
C2986717|A rare limbic encephalitis characterized by the presence of autoantibodies against NMDA receptors in serum and cerebrospinal fluid. It may be of paraneoplastic (most commonly associated with ovarian teratoma) or non-paraneoplastic origin and is life-threatening but potentially treatable. Patients present with acute behavioral change, psychosis, and catatonia, rapidly progressing to seizures, memory deficit, dyskinesias, speech problems, and autonomic and breathing dysregulation.|ORDO|N|
C2986850|A finding regarding a female''s pregnancy and lactation situation.|NCI|N|
C2986863|A liposarcoma that arises from the thymus gland. It is characterized by the presence of a liposarcomatous malignant infiltrate that entraps lobules of thymic tissue.|NCI|N|
C2986867|A benign or malignant mesenchymal neoplasm that arises from the thymus gland. It is characterized by the presence of spindle cell fibroblasts and collagen tissue.|NCI|N|
C2986869|A thymoma that arises in the cervical region and is not connected with the thymus gland.|NCI|N|
C2986875|A Hodgkin lymphoma that arises from the thymus gland. It is usually of the nodular sclerosis subtype and is often associated with cystic changes in the thymic epithelium.|NCI|N|
C2986940|A subjective answer that something rarely happens.|NCI|N|
C2986941|A subjective answer that something occurs relatively frequently.|NCI|N|
C2986942|A chromosomal translocation that involves the chromosomes 4 and 14.|NCI|N|
C2986943|A chromosomal translocation that involves the chromosomes 14 and 16.|NCI|N|
C2986961|Stage IIA1 includes: T2a1, N0, M0. Tumor invades beyond uterus but no to pelvic wall or to lower third of vagina. No parametrial invasion. T2a1: Clinically visible lesion 4.0 cm or less in greatest dimension. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C2986962|Stage IIA2 includes: T2a2, N0, M0. Tumor invades beyond uterus but no to pelvic wall or to lower third of vagina. No parametrial invasion. T2a2: Clinically visible lesion more than 4.0 cm in greatest dimension. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C2986963|Stage IIIC1 includes: T1-T3, N1, M0. T1: Tumor confined to corpus uteri. T2: Tumor invades stromal connective tissue of the cervix but does not extend beyond uterus. T3: Tumor involves serosa and/or adnexa, vagina, or parametrial tissue. N1: Regional lymph node metastasis to pelvic lymph nodes. M0: No distant metastasis. This staging applies to carcinomas and carcinosarcomas. (AJCC 7th ed.)|NCI|N|
C2986965|Stage IIIC2 includes: T1-T3, N2, M0. T1: Tumor confined to corpus uteri. T2: Tumor invades stromal connective tissue of the cervix but does not extend beyond uterus. T3: Tumor involves serosa and/or adnexa, vagina, or parametrial tissue. N2: Regional lymph node metastasis to para-aortic lymph nodes, with or without positive pelvic lymph nodes. M0: No distant metastasis. This staging applies to carcinomas and carcinosarcomas. (AJCC 7th ed.)|NCI|N|
C2987057|A medical condition that has a concise explanation of the meaning of term.|NCI|N|
C2987058|An adverse event that has a concise explanation of the meaning of term.|NCI|N|
C2987120|A neoplastic lesion that shows morphologic evidence of invasion into the lamina propria or muscularis mucosa. There is no evidence of invasion into the submucosa. Evidence of invasion may refer to stromal invasion by single cells or clusters of cells, presence of atypical and complex glandular architectural patterns beyond those that are present in normal mucosa, desmoplasia, and/or vascular invasion.|NCI|N|
C2987128|A high grade poorly differentiated carcinoma arising from the digestive system. It is composed of small or large neoplastic cells that express immunohistochemical evidence of neuroendocrine differentiation. There is marked nuclear atypia, necrosis, and more than 20 mitoses per 10 HPF.|NCI|N|
C2987129|A carcinoma that arises from the digestive system and is characterized by the presence of a malignant glandular epithelial component and a malignant neuroendocrine component. At least 30% of either component should be present for the diagnosis to be made.|NCI|N|
C2987139|A pancreatic ductal adenocarcinoma characterized by the presence of duct-like structures and medium-sized malignant glandular structures.|NCI|N|
C2987140|A pancreatic ductal adenocarcinoma characterized by the presence of medium-sized duct-like structures and small malignant tubular glandular structures.|NCI|N|
C2987141|A pancreatic ductal adenocarcinoma characterized by the presence of small and irregular malignant glandular structures, solid sheets of malignant cells, and single malignant cells.|NCI|N|
C2987142|A pancreatic intraepithelial neoplasia characterized by the presence of tall columnar cells that form flat architectural patterns. Mild cytological atypia is present.|NCI|N|
C2987143|A pancreatic intraepithelial neoplasia characterized by the presence of tall columnar cells that form papillary, micropapillary, or basally pseudostratified architectural patterns. Mild cytological atypia is present.|NCI|N|
C2987144|A pancreatic lesion microscopically resembling pancreatic intraepithelial neoplasia-1A, however the neoplastic nature of the pathologic process has not been unambiguously established.|NCI|N|
C2987145|A pancreatic epithelial neoplasia characterized by the presence of papillary and rarely flat architectural patterns with formation of cribriform patterns and luminal necrosis. Severe dysplasia is present.|NCI|N|
C2987162|A very rare carcinoma that arises from the pancreas showing a mixture of acinar, neuroendocrine, and ductal carcinoma elements.|NCI|N|
C2987165|A rare adenocarcinoma that arises from the pancreas. It is characterized by marked hepatocellular differentiation.|NCI|N|
C2987166|A pancreatic ductal adenocarcinoma characterized by poor differentiation and a prominent syncytial growth pattern. The prognosis is more favorable compared to conventional pancreatic ductal adenocarcinoma.|NCI|N|
C2987169|A benign, non-metastasizing, usually cystic epithelial neoplasm arising from the exocrine pancreas. It is composed of glycogen-rich epithelial cells which produce a watery fluid. Signs and symptoms include abdominal mass, abdominal pain, nausea, vomiting, and weight loss.|NCI|N|
C2987170|A benign, non-metastasizing epithelial neoplasm arising from the exocrine pancreas. It is characterized by the presence of a few large cysts and is composed of glycogen-rich epithelial cells which produce a watery fluid.|NCI|N|
C2987173|A well-circumscribed serous adenoma that is solid and lacks cystic changes.|NCI|N|
C2987174|A serous adenoma that develops in a patient with Von Hippel-Lindau syndrome. Usually there are multiple serous adenomas present of the macrocystic type.|NCI|N|
C2987179|A non-invasive mucinous cystic neoplasm that arises from the pancreas and is characterized by the presence of mild dysplasia and absence of mitotic figures.|NCI|N|
C2987182|A cystic epithelial neoplasm characterized by the presence of columnar mucin-producing epithelial cells, ovarian-type stroma formation, and the absence of an invasive carcinomatous component.|NCI|N|
C2987185|A non-invasive mucinous cystic neoplasm that arises from the pancreas and is characterized by the presence of severe dysplasia. The neoplastic columnar mucin-producing epithelial cells form papillae with irregular branching and budding. There is nuclear stratification, prominent nucleoli, and cellular pleomorphism. Mitotic activity is present and the mitoses may be atypical.|NCI|N|
C2987188|A group of cystic or mass-forming epithelial neoplasms that arise from the exocrine pancreas, exhibit ductal differentiation, and grow mostly within the pancreatic ducts. This group includes the pancreatic intraductal papillary mucinous neoplasms and the pancreatic intraductal tubulopapillary neoplasms.|NCI|N|
C2987189|A rare epithelial tumor of pancreas characterized by a solid, nodular mass growing within dilated pancreatic ducts, histologically composed of nodules of back-to-back tubular glands forming large cribriform structures, with high-grade dysplasia and ductal differentiation. There is no overt production of mucin. About half of the tumors occur in the head of the pancreas, one third involve the gland diffusely. Patients present with nonspecific symptoms including abdominal pain, vomiting, weight loss, steatorrhea, and diabetes mellitus, while obstructive jaundice is uncommon. This tumor type accounts for less than 1% of exocrine neoplasms and 3% of intraductal neoplasms of the pancreas.|ORDO|N|
C2987190|A pancreatic intraductal tubulopapillary neoplasm characterized by the presence of an invasive carcinomatous component. The invasive carcinoma has a tubular pattern.|NCI|N|
C2987191|A pancreatic intraductal papillary mucinous neoplasm characterized by the presence of neoplastic epithelial cells that are similar to gastric foveolar epithelial cells.|NCI|N|
C2987192|A morphologic finding indicating the presence of cells that resemble gastric foveolar epithelial cells.|NCI|N|
C2987193|A pancreatic intraductal papillary mucinous neoplasm characterized by the presence of neoplastic epithelial cells that form tall papillae, similar to those that are present in colonic villous adenomas.|NCI|N|
C2987194|A morphologic growth pattern indicating the presence of tall papillary structures.|NCI|N|
C2987195|A pancreatic intraductal papillary mucinous neoplasm characterized by the presence of neoplastic epithelial cells that form thin-branching papillae and exhibit high grade dysplasia.|NCI|N|
C2987196|A morphologic growth pattern indicating the presence of papillary structures forming thin branches.|NCI|N|
C2987197|A pancreatic intraductal papillary mucinous neoplasm characterized by the presence of neoplastic epithelial cells with abundant eosinophilic granular cytoplasm.|NCI|N|
C2987213|A condition in which a person is heterozygous for a globin gene, with a one normal allele and one defective allele.|NCI|N|
C2987214|A state in which both beta-globin alleles code for a C or E variant but which leads to such minor changes to the hemoglobin that it does not cause disease.|NCI|N|
C2987215|A heterozygous state in which a person has a mutation in a beta globin allele causing beta thalassemia, together with other structural variants in the other allele.|NCI|N|
C2987218|An epithelial neoplasm that arises from the exocrine pancreas. It is characterized by the presence of neoplastic cells that resemble acinar cells and produce pancreatic exocrine enzymes. The vast majority are carcinomas.|NCI|N|
C2987221|A non-neoplastic cystic lesion of the pancreas lined by benign-appearing acinar and ductal epithelium. (WHO 2019)|NCI|N|
C2987226|A teratoma that arises from the pancreas.|NCI|N|
C2987239|An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the pancreas. It is characterized by the presence of malignant large cells.|NCI|N|
C2987240|An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the pancreas. It is characterized by the presence of malignant small cells.|NCI|N|
C2987241|A low grade well differentiated neoplasm with neuroendocrine differentiation that arises from the pancreas. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal or less than 2%.|NCI|N|
C2987242|A low grade well differentiated neoplasm with neuroendocrine differentiation that arises from the pancreas. It is characterized by the absence of a hormone-related clinical syndrome.|NCI|N|
C2987252|An esophageal squamous cell carcinoma characterized by the presence of a spindle-cell carcinomatous component. Crossly it has a polypoid appearance and usually arises from the middle or lower third of the esophagus.|NCI|N|
C2987253|A reactive (non-neoplastic) hyperplastic process affecting the esophageal squamous epithelium that is caused by inflammation. Morphologically it involves more than 15% of the thickness of the esophageal squamous epithelium. Its association with an increase risk of developing squamous cell carcinoma remains controversial.|NCI|N|
C2987254|An esophageal squamous cell carcinoma characterized by the presence of prominent keratinization and low mitotic activity.|NCI|N|
C2987255|An esophageal squamous cell carcinoma characterized by the presence of variable morphologic characteristics that include areas of prominent and poor keratinization.|NCI|N|
C2987256|An esophageal squamous cell carcinoma characterized by the presence of basal-like malignant squamous cells that form nests, often associated with central necrosis.|NCI|N|
C2987257|Glandular intraepithelial neoplasia arising in Barrett esophagus.|NCI|N|
C2987258|A finding indicating the presence of Barrett esophagus with regenerative changes only.|NCI|N|
C2987259|A finding indicating the presence of Barrett esophagus in which technical reasons make the interpretation of atypia difficult, atypia is present but it is not quite to the level of dysplasia, or atypia is present at the bases of the crypts but does not reach the surface of the crypts.|NCI|N|
C2987260|A group of esophageal epithelial neoplasms characterized by neuroendocrine differentiation, comprising well-differentiated neuroendocrine tumors (NETs), poorly differentiated neuroendocrine carcinomas (NECs), and mixed neuroendocrine-non-neuroendocrine neoplasms, an umbrella category including mixed adenoneuroendocrine carcinoma. The tumors typically occur in the lower esophagus, often in association with Barrett mucosa. NECs may also arise in other parts of the esophagus. On endoscopy, NETs usually appear as small polypoid or nodular submucosal masses, while NECs are large, infiltrative, and ulcerated. Patients most commonly present with dysphagia, pain, weight loss, and sometimes melena. Metastatic NETs may be associated with carcinoid syndrome.|ORDO|N|
C2987261|A well differentiated, intermediate grade neoplasm with neuroendocrine differentiation that arises from the esophagus. The mitotic count is 2-20 per 10 HPF and/or the Ki67 index is 3 to 20 percent.|NCI|N|
C2987262|An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the esophagus. The mitotic count is more than 20 per 10 HPF. According to the size of the malignant cells, the prominence of the nucleoli, and the amount of cytoplasm, it is classified either as small or large cell neuroendocrine carcinoma.|NCI|N|
C2987263|An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the esophagus. It is characterized by the presence of malignant large cells.|NCI|N|
C2987264|A carcinoma that arises from the esophagus and is characterized by the presence of a malignant glandular epithelial component and a malignant neuroendocrine component. At least 30 percent of either component should be present for the diagnosis to be made.|NCI|N|
C2987265|A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the esophagus.|HPO|N|
C2987266|A rhabdomyosarcoma arising from the esophageal wall.|NCI|N|
C2987267|A synovial sarcoma that affects the esophageal wall.|NCI|N|
C2987268|An extranodal diffuse large B-cell lymphoma that arises from the esophagus with the bulk of the mass located in the esophagus.|NCI|N|
C2987269|An extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue that arises from the esophagus with the bulk of the mass located in the esophagus.|NCI|N|
C2987365|A finding about one or more characteristics of colorectal cancer, following the rules of the TNM AJCC v6 classification system.|NCI|N|
C2987393|An adenocarcinoma that arises from the gastric mucosa and is characterized by the presence of isolated malignant cells or malignant cells that form small aggregates. This category includes signet ring cell adenocarcinomas, adenocarcinomas that are composed of malignant cells resembling lymphocytes and histiocytes, and adenocarcinomas that are composed of malignant cells with deeply eosinophilic cytoplasm.|NCI|N|
C2987394|A morphologic finding indicating the presence of a malignant cellular infiltrate characterized by the presence of individual cells and/or tiny cellular aggregates.|NCI|N|
C2987396|A rare adenocarcinoma that arises from the gastric mucosa and is characterized by the presence of large polygonal malignant cells with eosinophilic cytoplasm resembling hepatocytes.|NCI|N|
C2987397|A rare adenocarcinoma that arises from the gastric mucosa and is characterized by the presence of prominent lymphocytic stromal infiltration and poorly formed tubular structures.|NCI|N|
C2987398|A malignant germ cell tumor that arises from the stomach. It is characterized by the presence of syncytiotrophoblast and cytotrophoblast cellular components. It is often associated with lymph node and hematogenous metastases.|NCI|N|
C2987401|A morphologic finding indicating the absence of dysplastic changes in the gastric mucosal epithelium. It includes non-neoplastic inflammatory, reactive, or metaplastic pathologic processes.|NCI|N|
C2987402|A term used to describe an ambiguous morphologic pattern in the gastric mucosa, when there is doubt whether the findings represent a non-neoplastic or neoplastic pathologic process.|NCI|N|
C2987406|A neoplasm that arises from the gastric glandular epithelium and invades the lamina propria but not the submucosa. There is marked glandular crowding, branching and budding, intraluminal necrosis, and prominent mitotic activity. Desmoplastic changes may be present or absent.|NCI|N|
C2987408|A non-neoplastic polyp that arises from the stomach. This category includes hyperplastic polyps and hamartomatous polyps.|NCI|N|
C2987414|A morphologic finding indicating the presence of gastric epithelial cell differentiation in a tissue sample.|NCI|N|
C2987415|A neoplastic polyp that arises from the stomach. It is characterized by the presence of gastric epithelial differentiation. It includes pyloric gland adenomas and foveolar-type adenomas.|NCI|N|
C2987418|A morphologic finding indicating the presence of foveolar-type epithelial cells in a tissue sample.|NCI|N|
C2987419|A rare neoplastic polyp that arises from the stomach. It is characterized by the presence of foveolar-type epithelium. It may be seen in patients with familial adenomatous polyposis.|NCI|N|
C2987434|A pathologic finding about one or more characteristics of bladder cancer, following the rules of the TNM AJCC v6 classification system. TNM pathologic findings are based on clinical findings supplemented by histopathologic examination of one or more tissue specimens acquired during surgery.|NCI|N|
C2987435|A pathologic finding about one or more characteristics of bladder cancer, following the rules of the TNM AJCC v6 classification system as they pertain to staging of the primary tumor. TNM pathologic primary tumor findings are based on clinical findings supplemented by histopathologic examination of one or more tissue specimens acquired during surgery.|NCI|N|
C2987436|A pathologic finding about one or more characteristics of bladder cancer, following the rules of the TNM AJCC v6 classification system as they pertain to staging of regional lymph nodes. TNM pathologic regional lymph nodes findings are based on clinical findings supplemented by histopathologic examination of one or more tissue specimens acquired during surgery.|NCI|N|
C2987437|Bladder cancer with invasion into the muscle layer. (from AJCC 6th Ed.)|NCI|N|
C2987438|Bladder cancer with invasion into the superficial muscle layer. (from AJCC 6th Ed.)|NCI|N|
C2987439|Bladder cancer with invasion into the deep muscle layer. (from AJCC 6th Ed.)|NCI|N|
C2987440|Bladder cancer with invasion to the prostate, uterus, vagina, pelvic wall or abdominal wall. (from AJCC 6th Ed.)|NCI|N|
C2987441|Bladder cancer with invasion to the prostate, uterus or vagina. (from AJCC 6th Ed.)|NCI|N|
C2987442|Bladder cancer with metastasis to a single lymph node with a size of 2 cm or less in greatest dimension. Regional lymph nodes are those within the true pelvis. All other lymph nodes are distant lymph nodes.(from AJCC 6th Ed.)|NCI|N|
C2987443|Bladder cancer with metastasis to a single lymph node with a size of more than 2 cm, but not more than 5 cm in greatest dimension or multiple lymph nodes, none more than 5 cm in greatest dimension. Regional lymph nodes are those within the true pelvis. All other lymph nodes are distant lymph nodes. (from AJCC 6th Ed.)|NCI|N|
C2987444|Bladder cancer with metastasis to one or more lymph nodes with a size of more than 5 cm in greatest dimension. Regional lymph nodes are those within the true pelvis. All other lymph nodes are distant lymph nodes. (from AJCC 6th Ed.)|NCI|N|
C2987445|Bladder cancer in which distant metastasis cannot be assessed. (from AJCC 6th Ed.)|NCI|N|
C2987446|A finding about one or more characteristics of bladder cancer, following the rules of the TNM AJCC v6 classification system.|NCI|N|
C2987466|Stage IV maxillary sinus cancer: Stage IV is divided into stages IVA, IVB, and IVC. Stage IVA: cancer has spread to either one lymph node on the same side of the neck as the cancer and the lymph node is larger than 3 centimeters but smaller than 6 centimeters; or, cancer has spread to more than one lymph node anywhere in the neck, and all are 6 centimeters or smaller; cancer is also found in any of the following areas: the maxillary sinus, bones around the maxillary sinus, tissues under the skin, the eye socket, the base of the skull, and the ethmoid sinuses or cancer is found in one or more lymph nodes in the neck, none larger than 6 centimeters, and in any of the following areas: the front of the eye, the skin of the cheek, the base of the skull, behind the jaw, the bone between the eyes, and the sphenoid or frontal sinuses. Stage IVB: cancer has spread to either: one or more lymph nodes larger than 6 centimeters; or the back of the eye, the brain, the base and middle parts of the skull, nerves in the head, and/or the upper part of the throat behind the nose; cancer may also be found in one or more lymph nodes. Stage IVC: cancer has spread to other parts of the body. Stage IV nasal cavity and ethmoid sinus cancer: Stage IV is divided into stages IVA, IVB, and IVC. Stage IVA: cancer has spread to either one lymph node on the same side of the neck as the cancer and the lymph node is larger than 3 centimeters but smaller than 6 centimeters; or, cancer has spread to more than one lymph node anywhere in the neck, and all are 6 centimeters or smaller; cancer is also found in any of the following places: the nasal cavity or ethmoid sinus., the eye socket, the maxillary sinus, the roof of the mouth, and the bone between the eyes or cancer is found in one or more lymph nodes in the neck, and the lymph nodes are 6 centimeters or smaller; cancer is also found in any of the following areas: the front of the eye, the skin of the nose or cheek, front parts of the skull, the base of the skull, and the sphenoid or frontal sinuses. Stage IVB: cancer is found in any of the following areas: the back of the eye, the brain, the middle parts of the skull, nerves in the head the upper part of the throat behind the nose and the base of the skull. Cancer may also be found in one or more lymph nodes or cancer is found in a lymph node that is larger than 6 centimeters. Stage IVC: cancer has spread to other parts of the body (from PDQ).|NCI|N|
C2987469|A psychotic disorder characterized by prominent hallucinations or delusions that have been determined to be etiologically linked to substance use, intoxication or withdrawal.|NCI|N|
C2987477|Stage II includes: T2, N0, M0. T2: Vulvar cancer with tumor of any size with extension to adjacent perineal structures (lower/distal 1/3 urethra, lower/distal 1/3 vagina, anal involvement). N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C2987478|Stage III includes: IIIA: (T1/T2, N1a/N1b, M0); IIIB: (T1/T2, N2a/N2b, M0); IIIC: (T1/T2, N2c, M0). T1: Invasive vulvar cancer confined to the vulva or perineum. T2: Vulvar cancer with tumor of any size with extension to adjacent perineal structures (lower/distal 1/3 urethra, lower/distal 1/3 vagina, anal involvement). N1a: Vulvar cancer with one or two lymph node metastasis each measuring 5 mm or less. N1b: Vulvar cancer with one lymph node metastasis measuring 5 mm or greater. N2a: Vulvar cancer with three or more lymph node metastases each measuring 5 mm or less. N2b: Vulvar cancer with two or more lymph node metastases measuring 5 mm or greater. N2c: Vulvar cancer with lymph node metastasis with extracapsular spread. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C2987483|Stage 0 includes: Tis, N0, M0. Tis: Carcinoma in situ (preinvasive carcinoma). N0: No regional lymph node metastasis. M0: No distant metastasis. FIGO no longer includes stage 0. (AJCC 7th ed.)|NCI|N|
C2987488|Dysplasia in the erythroid lineage, which presents with a variety of morphological changes in the bone marrow, including nuclear budding or irregular nuclear contour in erythroblasts.|HPO|N|
C2987497|Stage IV includes: (T4b, N0, M0); (Any T, N1-3, M0); (Any T, Any N, M1). T4b: Tumor invades pelvic wall, abdominal wall. N0: No regional lymph node metastasis. N1: Single regional lymph node metastasis in the true pelvis (hypogastric, obturator, external iliac, or presacral lymph node). N2: Multiple regional lymph node metastases in the true pelvis (hypogastric, obturator, external iliac, or presacral lymph node metastasis). N3: Metastasis to the common iliac lymph nodes. M0: No distant metastasis. M1: Distant metastasis. (AJCC 7th ed.)|NCI|N|
C2987498|Stage I includes: T1, N0, M0. T1: Invasive vulvar cancer confined to the vulva or perineum. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C2987499|Stage IV includes: (T4, Any N, M0); (Any T, N3, M0); (Any T, Any N, M1). T4: Tumor invades other adjacent structures. cN3: Palpable fixed inguinal nodal mass or pelvic lymphadenopathy unilateral or bilateral. pN3: Extranodal extension of lymph node metastasis or pelvic lymph node(s) unilateral or bilateral. M0: No distant metastasis. M1: Distant metastasis (lymph node metastasis outside of the true pelvis in addition to visceral or bone sites). (AJCC 7th ed.)|NCI|N|
C2987503|Stage III includes: IIIA (T3, N0, M0); IIIB (T1-3, N1, M0). T3: Tumor perforates the serosa (visceral peritoneum) and/or directly invades the liver and/or one other adjacent organ or structure, such as the stomach, duodenum, colon, pancreas, omentum, or extrahepatic bile ducts. T1: Tumor invades lamina propria or muscular layer. T2: Tumor invades perimuscular connective tissue; no extension beyond serosa or into liver. N0: No regional lymph node metastasis. N1: Metastases to nodes along the cystic duct, common bile duct, hepatic artery, and/or portal vein. M0: No distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2987504|Stage II includes: T2, N0, M0. T2: Tumor invades perimuscular connective tissue; no extension beyond serosa or into liver. N0: No regional lymph node metastasis. M0: No distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2987507|Stage I includes: T1, N0, M0. T1: Tumor invades lamina propria or muscular layer. N0: No regional lymph node metastasis. M0: No distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C2987516|Stage 0 includes: (Tis, N0, M0). Tis: Carcinoma in situ. N0: No regional lymph node metastasis. M0: No distant metastasis. FIGO no longer includes stage 0. (AJCC 7th ed.)|NCI|N|
C2987519|Stage II includes: II (T2, N0, M0); IIA (T2a, N0, M0); IIA1 (T2a1, N0, M0); IIA2 (T2a2, N0, M0); IIB (T2b, N0, M0); T2: Cervical carcinoma invades beyond uterus but not to pelvic wall or to lower third of vagina. T2a: Tumor without parametrial invasion. T2a1: Clinically visible lesion 4.0 cm or less in greatest dimension. T2a2: Clinically visible lesion more than 4.0 cm in greatest dimension. T2b: Tumor with parametrial invasion. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C3146244|A physical or cognitive mental abnormality caused by maternal alcohol consumption and its toxic effect on the developing embryo during pregnancy.|NCI|N|
C3146245|A neoplastic polyp that arises from the stomach. It is associated with intestinal-type differentiation. The presence of high grade dysplasia and a size of more than 2 cm are factors that increase the risk of malignant transformation.|NCI|N|
C3146247|Stage II includes: T2, N0, M0. T2: Lesions have been divided into T2a and T2b. T2a is defined as tumor more than 7 cm but less than or equal to 10 cm in greatest dimension, limited to the kidney. T2b is defined as tumor greater than 10 cm, limited to the kidney. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C3146248|Stage III includes: (T1 or T2, N1, M0); (T3, N0 or N1, M0). T1: Lesions have been divided into T1a and T1b. T1a is defined as tumor 4 cm or less in greatest dimension, limited to the kidney. T1b is defined as tumor greater than 4 cm but not more than 7 cm in greatest dimension, limited to the kidney. T2: Lesions have been divided into T2a and T2b. T2a is defined as tumor more than 7 cm but less than or equal to 10 cm in greatest dimension, limited to the kidney. T2b is defined as tumor greater than 10 cm, limited to the kidney. T3: Tumor extends into major veins or perinephric tissues, but not into the ipsilateral adrenal gland and not beyond Gerota''s fascia. Lesions have been divided into T3a, T3b, and T3c. T3a: Tumor grossly extends into the renal vein or its segmental (muscle containing) branches, or tumor invades perirenal and/or renal sinus fat but not beyond Gerota''s fascia. T3b: Tumor grossly extends into the vena cava below the diaphragm. T3c: Tumor grossly extends into the vena cava above the diaphragm or invades the wall of the vena cava. N0: No regional lymph node metastasis. N1: Metastasis in regional lymph node(s). M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C3146249|Stage IV includes: (T4, Any N, M0); (Any T, Any N, M1). T4: Tumor invades beyond Gerota''s fascia (including contiguous extension into the ipsilateral adrenal gland). M0: No distant metastasis. M1: Distant metastasis. (AJCC 7th ed.)|NCI|N|
C3146250|Stage III includes: IIIA (T1-T2, N1/N1c, M0); (T1, N2a, M0); IIIB (T3-T4a, N1/N1c, M0); (T2-T3, N2a, M0); (T1-T2, N2b, M0); IIIC (T4a, N2a, M0); (T3-T4a, N2b, M0); (T4b, N1-N2, M0). T1: Tumor invades submucosa. T2: Tumor invades muscularis propria. T3: Tumor invades through the muscularis propria into pericolorectal tissues. T4a: Tumor penetrates to the surface of the visceral peritoneum. T4b: Tumor directly invades or is adherent to other organs or structures. N0: No regional lymph node metastasis. N1: Metastasis in 1-3 regional lymph nodes. N1c: Tumor deposit(s) in the subserosa, mesentery, or nonperitonealized pericolic or perirectal tissues without regional lymph node metastasis. N2: Metastasis in four or more regional lymph nodes. N2a: Metastasis in 4-6 regional lymph nodes. N2b: Metastasis in seven or more regional lymph nodes. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C3146251|Stage IV includes: IVA: (Any T, Any N, M1a); IVB: (Any T, Any N, M1b). M1a: Metastasis confined to one organ or site (e.g., liver, lung, ovary, nonregional node). M1b: Metastases in more than one organ/site or the peritoneum. (AJCC 7th ed.)|NCI|N|
C3146252|Stage II includes: IIA (T3, N0, M0); IIB (T4a, N0, M0); IIC (T4b, N0, M0). T3: Tumor invades through the muscularis propria into pericolorectal tissues. T4a: Tumor penetrates to the surface of the visceral peritoneum. T4b: Tumor directly invades or is adherent to other organs or structures. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C3146253|Stage III includes: IIIA (T1-T2, N1/N1c, M0); (T1, N2a, M0); IIIB (T3-T4a, N1/N1c, M0); (T2-T3, N2a, M0); (T1-T2, N2b, M0); IIIC (T4a, N2a, M0); (T3-T4a, N2b, M0); (T4b, N1-N2, M0). T1: Tumor invades submucosa. T2: Tumor invades muscularis propria. T3: Tumor invades through the muscularis propria into pericolorectal tissues. T4a: Tumor penetrates to the surface of the visceral peritoneum. T4b: Tumor directly invades or is adherent to other organs or structures. N0: No regional lymph node metastasis. N1: Metastasis in 1-3 regional lymph nodes. N1c: Tumor deposit(s) in the subserosa, mesentery, or nonperitonealized pericolic or perirectal tissues without regional lymph node metastasis. N2: Metastasis in four or more regional lymph nodes. N2a: Metastasis in 4-6 regional lymph nodes. N2b: Metastasis in seven or more regional lymph nodes. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C3146254|Stage III includes: IIIA (T1-T2, N1/N1c, M0); (T1, N2a, M0); IIIB (T3-T4a, N1/N1c, M0); (T2-T3, N2a, M0); (T1-T2, N2b, M0); IIIC (T4a, N2a, M0); (T3-T4a, N2b, M0); (T4b, N1-N2, M0). T1: Tumor invades submucosa. T2: Tumor invades muscularis propria. T3: Tumor invades through the muscularis propria into pericolorectal tissues. T4a: Tumor penetrates to the surface of the visceral peritoneum. T4b: Tumor directly invades or is adherent to other organs or structures. N0: No regional lymph node metastasis. N1: Metastasis in 1-3 regional lymph nodes. N1c: Tumor deposit(s) in the subserosa, mesentery, or nonperitonealized pericolic or perirectal tissues without regional lymph node metastasis. N2: Metastasis in four or more regional lymph nodes. N2a: Metastasis in 4-6 regional lymph nodes. N2b: Metastasis in seven or more regional lymph nodes. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C3146255|Stage IV includes: IVA: (Any T, Any N, M1a); IVB: (Any T, Any N, M1b). M1a: Metastasis confined to one organ or site (e.g., liver, lung, ovary, nonregional node). M1b: Metastases in more than one organ/site or the peritoneum. (AJCC 7th ed.)|NCI|N|
C3146256|Stage II includes: IIA (T3, N0, M0); IIB (T4a, N0, M0); IIC (T4b, N0, M0). T3: Tumor invades through the muscularis propria into pericolorectal tissues. T4a: Tumor penetrates to the surface of the visceral peritoneum. T4b: Tumor directly invades or is adherent to other organs or structures. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C3146257|Stage II includes: IIA (T3, N0, M0); IIB (T4a, N0, M0); IIC (T4b, N0, M0). T3: Tumor invades through the muscularis propria into pericolorectal tissues. T4a: Tumor penetrates to the surface of the visceral peritoneum. T4b: Tumor directly invades or is adherent to other organs or structures. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C3146258|Stage IV includes: IVA (T4a, N0, M0); (T4a, N1, M0); (T1, N2, M0); (T2, N2, M0); (T3, N2, M0); (T4a, N2, M0); IVB (T4b, Any N, M0); (Any T, N3, M0); IVC (Any T, Any N, M1). T4a: Tumor with moderately advanced local disease. Tumor invades the larynx, extrinsic muscle of tongue, medial pterygoid, hard palate, or mandible. Mucosal extension to lingual surface of epiglottis from primary tumors of the base of the tongue and vallecula does not constitute invasion of larynx. T1: Tumor 2 cm or less in greatest dimension. T2: Tumor more than 2 cm but not more than 4 cm in greatest dimension. T3: Tumor measuring more than 4 centimeters in greatest dimension or extension to lingual surface of epiglottis. T4b: Tumor with very advanced local disease. Tumor invades lateral pterygoid muscle, pterygoid plates, lateral nasopharynx, or skull base or encases carotid artery. N0: No regional lymph node metastasis. N1: Metastasis in a single ipsilateral lymph node, 3 cm or less in greatest dimension. N2: Tumor with metastasis in a single ipsilateral lymph node, more than 3 cm but not more than 6 cm in greatest dimension, or in multiple ipsilateral lymph nodes, none more than 6 cm in greatest dimension, or in bilateral or contralateral lymph nodes, none more than 6 cm in greatest dimension. N3: Tumor with metastasis in a lymph node more than 6 cm in greatest dimension. M0: No distant metastasis. M1: Distant metastasis. (AJCC 7th ed.)|NCI|N|
C3146259|Stage IV includes: IVA: (T4, N0, M0); (T4, N1, M0); (T4, N2, M0); IVB (Any T, N3, M0); IVC (Any T, Any N, M1). T4: Nasopharyngeal cancer with intracranial extension and/or involvement of cranial nerves, hypopharynx, orbit, or with extension to the infratemporal fossa/masticator space. N0: No regional lymph node metastasis. N1: Nasopharyngeal cancer with unilateral metastasis in cervical lymph node(s), 6 cm or less in greatest dimension, above the supraclavicular fossa, and/or unilateral or bilateral, retropharyngeal lymph nodes, 6 cm or less in greatest dimension. Midline nodes are considered ipsilateral nodes. N2: Nasopharyngeal cancer with bilateral metastasis in cervical lymph node(s), 6 cm or less in greatest dimension, above the supraclavicular fossa. Midline nodes are considered ipsilateral nodes. N3: Nasopharyngeal cancer with metastasis in a lymph node (s) more than 6 cm in greatest dimension and/or to supraclavicular fossa. Supraclavicular zone or fossa is relevant to the staging of nasopharyngeal carcinoma and is the triangular region originally described by Ho. It is defined by three points: (1) the superior margin of the sternal end of the clavicle, (2) the superior margin of the lateral end of the clavicle, (3) the point where the neck meets the shoulder. This would include caudal portions of levels IV and VB. All cases with lymph nodes (whole or part) in the fossa are considered N3b. M0: No distant metastasis. M1: Distant metastasis. (AJCC 7th ed.)|NCI|N|
C3146260|Stage I includes: T1, N0, M0. T1: Tumor limited to one subsite of hypopharynx and/or 2 cm or less in greatest dimension. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C3146261|Stage II includes: IIA (T1a-c, N0, M0, PSA less than 20, Gleason 7); (T1a-c, N0, M0, PSA equal or more than 10 and less than 20, Gleason equal or less than 6); (T2a, N0, M0, PSA less than 20, Gleason equal or less than 7); (T2b, N0, M0, PSA less than 20, Gleason equal or less than 7); (T2b, N0, M0, PSA X, Gleason X); IIB (T2c, N0, M0, Any PSA, Any Gleason); (T1-2, N0, M0, PSA equal or more than 20, Any Gleason); (T1-2, N0, M0, Any PSA, Gleason equal or more than 8). T1a: Tumor incidental histologic finding in 5% or less of tissue resected. T1b: Tumor incidental histologic finding in more than 5% of tissue resected. T1c: Tumor identified by needle biopsy (e.g., because of elevated PSA). T2a: Tumor involves one-half of one lobe or less. T2b: Tumor involves more than one-half of one lobe, but not both lobes. T2c: Tumor involves both lobes. cN0: No regional lymph node metastasis. pN0: No positive regional nodes. M0: No distant metastasis. Gleason 7: Moderately differentiated (moderate anaplasia). Gleason Equal or Less than 6: Well differentiated (slight anaplasia). Gleason equal or more than 8: Poorly differentiated/undifferentiated (marked anaplasia). (AJCC 7th ed.)|NCI|N|
C3146262|Stage III includes: T3a-b, N0, M0, Any PSA, Any Gleason. cT3a: Tumor with extracapsular extension (unilateral or bilateral). pT3a: Tumor with extraprostatic extension or microscopic invasion of bladder neck. T3b: Tumor invades seminal vesicle(s). cN0: No regional lymph node metastasis. pN0: No positive regional nodes. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C3146263|Stage I includes: (T1a-c, N0, M0, PSA less than 10, Gleason equal or less than 6); (T2a, N0, M0, PSA less than 10, Gleason equal or less than 6); (T1-2a, N0, M0, PSA X, Gleason X). T1a: Tumor incidental histologic finding in 5% or less of tissue resected. T1b: Tumor incidental histologic finding in more than 5% of tissue resected. T1c: Tumor identified by needle biopsy (e.g., because of elevated PSA). T2a: Tumor involves one-half of one lobe or less. cN0: No regional lymph node metastasis. pN0: No positive regional nodes. M0: No distant metastasis. Gleason Equal or Less than 6: Well differentiated (slight anaplasia). Gleason X: Gleason score cannot be processed. (AJCC 7th ed.)|NCI|N|
C3146264|Stage IV includes: (T4, N0, M0, Any PSA, Any Gleason); (Any T, N1, M0, Any PSA, Any Gleason); (Any T, Any N, M1, Any PSA, Any Gleason). cT4: Tumor is fixed or invades adjacent structures other than seminal vesicles such as external sphincter, rectum, bladder, levator muscles, and/or pelvic wall. pT4: Invasion of rectum, levator muscles, and/or pelvic wall. N1: Metastasis in regional lymph node(s). M1: Distant metastasis. (AJCC 7th ed.)|NCI|N|
C3146265|Metastatic disease.|NCI|N|
C3146266|Stage III includes: For squamous cell carcinoma: IIIA (T1-2, N2, M0, Any G, Tumor location: Any); (T3, N1, M0, Any G, Tumor location: Any); (T4a, N0, M0, Any G, Tumor location: Any); IIIB (T3, N2, M0, Any G, Tumor location: Any); IIIC (T4a, N1-2, M0, Any G, Tumor location: Any); (T4b, Any N, M0, Any G, Tumor location: Any); (Any T, N3, M0, Any G, Tumor location: Any). For adenocarcinoma: IIIA (T1-2, N2, M0, Any G); (T3, N1, M0, Any G); (T4a, N0, M0, Any G); IIIB (T3, N2, M0, Any G); IIIC (T4a, N1-2, M0, Any G); (T4b, Any N, M0, Any G); (Any T, N3, M0, Any G). T1: Tumor invades lamina propria, muscularis mucosae, or submucosa. T2: Tumor invades muscularis propria. T3: Tumor invades adventitia. T4a: Resectable tumor invading pleura, pericardium, or diaphragm. T4b: Unresectable tumor invading other adjacent structures, such as aorta, vertebral body, trachea, etc. N0: No regional lymph node metastasis. N1: Metastasis in 1-2 regional lymph nodes. N2: Metastasis in 3-6 regional lymph nodes. N3: Metastasis in seven or more regional lymph nodes. M0: No distant metastasis. Tumor location: Location of the primary cancer site is defined by the position of the upper (proximal) edge of the tumor in the esophagus. (AJCC 7th ed.)|NCI|N|
C3146267|Stage II includes: For squamous cell carcinoma: IIA (T2-3, N0, M0, G1, GX, Tumor location: Upper, middle); (T2-3, N0, M0, G2-3, Tumor location: Lower, X); IIB (T2-3, N0, M0, G2-3, Tumor location: Upper, middle); (T1-2, N1, M0, Any G, Tumor location: Any). For adenocarcinoma: IIA (T2, N0, M0, G3); IIB (T3, N0, M0, Any G); (T1-2, N1, M0, Any G). T2: Tumor invades muscularis propria. T3: Tumor invades adventitia. T1: Tumor invades lamina propria, muscularis mucosae, or submucosa. N0: No regional lymph node metastasis. N1: Metastasis in 1-2 regional lymph nodes. M0: No distant metastasis. G1: Well differentiated. GX: Grade cannot be assessed-stage grouping as G1. G2: Moderately differentiated. G3: Poorly differentiated. Tumor location: Location of the primary cancer site is defined by the position of the upper (proximal) edge of the tumor in the esophagus. (AJCC 7th ed.)|NCI|N|
C3146268|Stage I includes: For squamous cell carcinoma: IA (T1, N0, M0, G1, GX, Tumor location: Any); IB (T1, N0, M0, G2-3, Tumor location: Any); (T2-3, N0, M0, G1, GX, Tumor location: Lower, X). For adenocarcinoma: IA (T1, N0, M0, G1-2, X); IB (T1, N0, M0, G3); (T2, N0, M0, G1-2, GX). T1: Tumor invades lamina propria, muscularis mucosae, or submucosa. T2: Tumor invades muscularis propria. T3: Tumor invades adventitia. N0: No regional lymph node metastasis. M0: No distant metastasis. G1: Well differentiated. GX: Grade cannot be assessed-stage grouping as G1. G2: Moderately differentiated. G3: Poorly differentiated. Tumor location: Location of the primary cancer site is defined by the position of the upper (proximal) edge of the tumor in the esophagus. (AJCC 7th ed.)|NCI|N|
C3146269|Stage 0 includes: Tis, N0, M0. Tis: Carcinoma in situ (preinvasive carcinoma). N0: No regional lymph node metastasis. M0: No distant metastasis. FIGO no longer includes stage 0. (AJCC 7th ed.)|NCI|N|
C3146270|Stage IV includes: IVA: (T1/T2, N3, M0); (T3, Any N, M0); IVB: (Any T, Any N, M1). T1: Invasive vulvar cancer confined to the vulva or perineum. T2: Vulvar cancer with tumor of any size with extension to adjacent perineal structures (lower/distal 1/3 urethra, lower/distal 1/3 vagina, anal involvement). T3: Vulvar cancer with tumor of any size with extension to any of the following: upper/proximal 2/3 urethra, upper/proximal 2/3 vagina, bladder mucosa, rectal mucosa, or fixed to pelvic bone. N3: Vulvar cancer with fixed or ulcerated regional lymph node metastasis. M1: distant metastasis (including pelvic lymph node metastasis). (AJCC 7th ed.)|NCI|N|
C3146271|Stage III includes: IIIA : (T0, N2, M0); (T1, N2, M0); (T2, N2, M0); (T3, N1, M0); (T3, N2, M0), IIIB: (T4, N0, M0); (T4, N1, M0); (T4, N2, M0), and IIIC: (any T, N3, M0). T4: Tumor of any size with direct extension to the chest wall and/or to the skin (ulceration or skin nodules). N2: Metastases in ipsilateral level I, II axillary lymph nodes that are clinically fixed or matted; or in clinically detected ipsilateral internal mammary nodes in the absence of clinically evident axillary lymph node metastases. N3: Metastases in ipsilateral infraclavicular (level III) axillary lymph nodes(s) with or without level I, II axillary lymph node involvement; or in clinically detected ipsilateral internal mammary lymph node(s) with clinically evident level I, II axillary lymph node metastases; or metastases in ipsilateral supraclavicular lymph node(s) with or without axillary or internal mammary lymph node involvement. M0: No clinical or radiographic evidence of distant metastasis. M0 includes M0(i+). (AJCC 7th Ed.)|NCI|N|
C3146281|An initial set of movements by the fetus that is observed by the pregnant mother.|NCI|N|
C3146284|An abortion performed on the individual due to a harmful medical condition caused by pregnancy.|NCI|N|
C3147083|Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the SYNE4 gene.|MONDO|N|
C3148695|Increased concentration of thiosulfate(2-) in the urine.|HPO|N|
C3148833|A type of disproportionate short stature characterized by a short trunk but a average-sized limbs with onset in childhood.|HPO|N|
C3148929|People with Usher syndrome type III experience hearing loss and vision loss beginning somewhat later in life. Unlike the other forms of Usher syndrome, type III is usually associated with normal hearing at birth. Hearing loss typically begins during late childhood or adolescence, after the development of speech, and becomes more severe over time. By middle age, most affected individuals have profound hearing loss. Vision loss caused by retinitis pigmentosa also develops in late childhood or adolescence. Some people with Usher syndrome type III develop vestibular abnormalities that cause problems with balance.\n\nUsher syndrome is a condition characterized by partial or total hearing loss and vision loss that worsens over time. The hearing loss is classified as sensorineural, which means that it is caused by abnormalities of the inner ear. The loss of vision is caused by an eye disease called retinitis pigmentosa (RP), which affects the layer of light-sensitive tissue at the back of the eye (the retina). Vision loss occurs as the light-sensing cells of the retina gradually break down. Loss of night vision begins first, followed by blind spots that develop in the side (peripheral) vision. Over time, these blind spots enlarge and merge to produce tunnel vision. In some cases, vision is further impaired by clouding of the lens of the eye (cataracts). However, many people with retinitis pigmentosa retain some central vision throughout their lives.\n\nResearchers have identified three major types of Usher syndrome, designated as types I, II, and III. These types are distinguished by the severity of hearing loss, the presence or absence of balance problems, and the age at which signs and symptoms appear. The types are further divided into subtypes based on their genetic cause.\n\nMost individuals with Usher syndrome type I are born with severe to profound hearing loss. Worsening vision loss caused by retinitis pigmentosa becomes apparent in childhood. This type of Usher syndrome also causes abnormalities of the vestibular system, which is the part of the inner ear that helps maintain the body's balance and orientation in space. As a result of the vestibular abnormalities, children with the condition have trouble with balance. They begin sitting independently and walking later than usual, and they may have difficulty riding a bicycle and playing certain sports.\n\nUsher syndrome type II is characterized by hearing loss from birth and progressive vision loss that begins in adolescence or adulthood. The hearing loss associated with this form of Usher syndrome ranges from mild to severe and mainly affects the ability to hear high-frequency sounds. For example, it is difficult for affected individuals to hear high, soft speech sounds, such as those of the letters d and t. The degree of hearing loss varies within and among families with this condition, and it may become more severe over time. Unlike the other forms of Usher syndrome, type II is not associated with vestibular abnormalities that cause difficulties with balance.|MedlinePlus Genetics|N|
C3149074|KCNQ2-related disorders represent a continuum of overlapping neonatal epileptic phenotypes ranging from self-limited familial neonatal epilepsy (SLFNE) at the mild end to neonatal-onset developmental and epileptic encephalopathy (NEO-DEE) at the severe end. Additional, less common phenotypes consisting of neonatal encephalopathy with non-epileptic myoclonus, infantile or childhood-onset developmental and epileptic encephalopathy (DEE), and isolated intellectual disability (ID) without epilepsy have also been described. KCNQ2-SLFNE is characterized by seizures that start in otherwise healthy infants between two and eight days after term birth and spontaneously disappear between the first and the sixth to 12th month of life. There is always a seizure-free interval between birth and the onset of seizures. Seizures are characterized by sudden onset with prominent motor involvement, often accompanied by apnea and cyanosis; video EEG identifies seizures as focal onset with tonic stiffening of limb(s) and some migration during each seizure's evolution. About 30% of individuals with KCNQ2-SLFNE develop epileptic seizures later in life. KCNQ2-NEO-DEE is characterized by multiple daily seizures beginning in the first week of life that are mostly tonic, with associated focal motor and autonomic features. Seizures generally cease between ages nine months and four years. At onset, EEG shows a burst-suppression pattern or multifocal epileptiform activity; early brain MRI can show basal ganglia hyperdensities and later MRIs may show white matter or general volume loss. Moderate-to-profound developmental impairment is present.|GeneReviews|N|
C3149083|A reduction in the activity of the mitochondrial respiratory chain complex III, which is part of the electron transport chain in mitochondria.|HPO|N|
C3149220|Aarskog syndrome is characterized by short stature and facial, limb, and genital anomalies. One form of the disorder is X-linked (see 305400), but there is also evidence for autosomal dominant and autosomal recessive (227330) inheritance (summary by Grier et al., 1983).|OMIM|N|
C3149223|Absence of the abdominal musculature.|HPO|N|
C3149276|16p12.2 recurrent deletion is characterized by variable clinical findings that do not constitute a recognizable syndrome. Of note, the significant bias in ascertainment of individuals undergoing clinical chromosomal microarray analysis (i.e., children with intellectual disability and developmental delay; individuals with schizophrenia) makes it difficult to accurately associate specific phenotypes with the 16p12.2 recurrent deletion. Findings commonly observed in children (probands) with this deletion include: developmental delay, cognitive impairment (ranging from mild to profound), growth impairment (including short stature), cardiac malformations, epilepsy, and psychiatric and/or behavioral problems. Other findings can include: hearing loss, dental abnormalities, renal and genital anomalies (the latter in males), and cleft palate ± cleft lip.|GeneReviews|N|
C3149378|Common variable immunodeficiency (CVID) is a clinically and genetically heterogeneous group of disorders characterized by antibody deficiency, hypogammaglobulinemia, recurrent bacterial infections, and an inability to mount an antibody response to antigen. The defect results from a failure of B-cell differentiation and impaired secretion of immunoglobulins; the numbers of circulating B cells are usually in the normal range, but can be low. Most individuals with CVID have onset of infections after age 10 years. CVID represents the most common form of primary immunodeficiency disorders and is the most common form of primary antibody deficiency. Approximately 10 to 20% of patients with a diagnosis of CVID have a family history of the disorder (reviews by Chapel et al., 2008, Conley et al., 2009, and Yong et al., 2009).
Genetic Heterogeneity of Common Variable Immunodeficiency
Common variable immunodeficiency is a genetically heterogeneous disorder. See also CVID2 (240500), caused by mutation in the TACI gene (TNFRSF13B; 604907); CVID3 (613493), caused by mutation in the CD19 gene (107265); CVID4 (613494), caused by mutation in the BAFFR gene (TNFRSF13C; 606269); CVID5 (613495), caused by mutation in the CD20 gene (112210); CVID6 (613496), caused by mutation in the CD81 gene (186845); CVID7 (614699), caused by mutation in the CD21 gene (CR2; 120650); CVID8 (614700), caused by mutation in the LRBA gene (606453); CVID10 (615577), caused by mutation in the NFKB2 gene (164012); CVID11 (615767), caused by mutation in the IL21 gene (605384); CVID12 (616576), caused by mutation in the NFKB1 gene (164011); CVID13 (616873), caused by mutation in the IKZF1 gene (603023); CVID14 (617765), caused by mutation in the IRF2BP2 gene (615332); and CVID15 (620670), caused by heterozygous mutation in the SEC61A1 gene (609213).
The disorder formerly designated CVID9 has been found to be a form of autoimmune lymphoproliferative disorder; see ALPS3 (615559).|OMIM|N|
C3149494|Keloid is a dermal fibroproliferative growth caused by pathologic wound healing following skin injury. Keloid is defined as a scar growing continuously and invasively beyond the confines of the original wound and is characterized by excessive fibroblast proliferation and deposition of extracellular matrix and collagen fibers. Local tissue factors, especially wound tension or infection, and endocrine factors are known to be involved in keloid formation. However, the fact that the incidence of keloid is higher in darker-skinned individuals suggests that genetic factors also play an important role (summary by Nakashima et al., 2010).|OMIM|N|
C3149517|Myotonia caused by mutations of the SCN4A gene, resulting in sodium muscle channelopathy. It is characterized by severe episodes of laryngospasm in the neonatal period, which can be alleviated by channel blockers.|NCI|N|
C3149631|Melorheostosis (MEL) is characterized by 'flowing' hyperostosis of the cortex of tubular bones. The lesions are usually asymmetric and involve only 1 limb or correspond to a particular sclerotome. They may be accompanied by abnormalities of adjacent soft tissue, including joint contractures, sclerodermatous skin lesions, muscle atrophy, or hemangiomas (review by Hellemans et al., 2004). The designation combines root words meaning 'limb,' 'flow,' and 'bone.'
Melorheostosis may sometimes be a feature of Buschke-Ollendorff syndrome (BOS; 166700), a benign disorder which is caused by mutation in the LEMD3 gene (607844). Although germline or somatic LEMD3 mutations had been postulated to cause isolated melorheostosis (Butkus et al., 1997; Debeer et al., 2003; Happle, 2004; Hellemans et al., 2004), several studies have not been able to prove this (Hellemans et al., 2004; Mumm et al., 2007; Zhang et al., 2009).|OMIM|N|
C3149695|A rare sclerosing bone dysplasia combining the clinical and radiological features of melorheostosis and osteopoikilosis. The disease has been reported in some families with osteopoikilosis and with variable presentation of limb pain and deformities. Caused by a germline mutation in the LEMD3 gene (12q14), which may predispose individuals with osteopoikilosis to develop melorheostosis. Inheritance is autosomal dominant.|SNOMEDCT_US|N|
C3149707|The Passovoy factor defect was originally described as an autosomal dominant bleeding disorder characterized by a prolonged activated partial thromboplastin time (APTT) (Hougie et al., 1975). However, further characterization of supposedly affected individuals has identified other causes for the prolonged APTT, thus casting doubt on the existence of the Passovoy factor defect as a distinct entity (Foster et al., 1992; Hayani et al., 1996).|OMIM|N|
C3149750|TK2-related mitochondrial DNA (mtDNA) maintenance defect is a phenotypic continuum that ranges from severe to mild. To date, approximately 107 individuals with a molecularly confirmed diagnosis have been reported. Three main subtypes of presentation have been described: Infantile-onset myopathy with neurologic involvement and rapid progression to early death. Affected individuals experience progressive muscle weakness leading to respiratory failure. Some individuals develop dysarthria, dysphagia, and/or hearing loss. Cognitive function is typically spared. Juvenile/childhood onset with generalized proximal weakness and survival to at least 13 years. Late-/adult-onset myopathy with facial and limb weakness and mtDNA deletions. Some affected individuals develop respiratory insufficiency, chronic progressive external ophthalmoplegia, dysphagia, and dysarthria.|GeneReviews|N|
C3149841|Autosomal dominant polycystic kidney disease (ADPKD) is generally a late-onset multisystem disorder characterized by bilateral kidney cysts, liver cysts, and an increased risk of intracranial aneurysms. Other manifestations include: cysts in the pancreas, seminal vesicles, and arachnoid membrane; dilatation of the aortic root and dissection of the thoracic aorta; mitral valve prolapse; and abdominal wall hernias. Kidney manifestations include early-onset hypertension, kidney pain, and kidney insufficiency. Approximately 50% of individuals with ADPKD have end-stage kidney disease (ESKD) by age 60 years. The prevalence of liver cysts increases with age and occasionally results in clinically significant severe polycystic liver disease (PLD), most often in females. Overall, the prevalence of intracranial aneurysms is fivefold higher than in the general population and further increased in those with a positive family history of aneurysms or subarachnoid hemorrhage. There is substantial variability in the severity of kidney disease and other extra-kidney manifestations.|GeneReviews|N|
C3149878|Partial dislocation of the head of the radius in the posterior direction.|HPO|N|
C3149908|A type of disproportionate short stature characterized by a short trunk but a average-sized limbs with congenital onset recognizable at birth.|HPO|N|
C3149931|Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome is characterised by sex reversal in males with a 46, XX (SRY-negative) karyotype, palmoplantar hyperkeratosis and a predisposition to squamous cell carcinoma. To date, five cases (four of whom were brothers) have been described. The aetiology is unknown.|ORDO|N|
C3150077|A mild degree of short stature, more than -2 SD but not more than -3 SD from mean corrected for age and sex.|HPO|N|
C3150092|Lack of development of lanugo, the fine, soft, unpigmented hair on the body of a fetus or newborn baby.|HPO|N|
C3150099|Cytochrome P450 oxidoreductase deficiency (PORD) is a disorder of steroidogenesis with a broad phenotypic spectrum including cortisol deficiency, altered sex steroid synthesis, disorders of sex development (DSD), and skeletal malformations of the Antley-Bixler syndrome (ABS) phenotype. Cortisol deficiency is usually partial, with some baseline cortisol production but failure to mount an adequate cortisol response in stress. Mild mineralocorticoid excess can be present and causes arterial hypertension, usually presenting in young adulthood. Manifestations of altered sex steroid synthesis include ambiguous genitalia/DSD in both males and females, large ovarian cysts in females, poor masculinization and delayed puberty in males, and maternal virilization during pregnancy with an affected fetus. Skeletal malformations can manifest as craniosynostosis, mid-face retrusion with proptosis and choanal stenosis or atresia, low-set dysplastic ears with stenotic external auditory canals, hydrocephalus, radiohumeral synostosis, neonatal fractures, congenital bowing of the long bones, joint contractures, arachnodactyly, and clubfeet; other anomalies observed include urinary tract anomalies (renal pelvic dilatation, vesicoureteral reflux). Cognitive impairment is of minor concern and likely associated with the severity of malformations; studies of developmental outcomes are lacking.|GeneReviews|N|
C3150127|BBS15 is a form of BBS caused by mutation in the WDPCP gene, a planar cell polarity gene (Kim et al., 2010).
For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (209900).|OMIM|N|
C3150154|The 16p11.2 recurrent deletion phenotype is characterized by motor speech disorder, language disorder, motor coordination difficulties, psychiatric conditions, and autistic features. While most, if not all, individuals with the 16p11.2 recurrent deletion experience some degree of developmental delay, the severity varies significantly. Most affected individuals do not have intellectual disability (defined as an IQ of <70), but many have below average cognition and learning disabilities in both verbal and nonverbal domains. Obesity is a feature of this disorder and generally emerges in childhood; BMI in individuals with the 16p11.2 recurrent deletion is significantly higher than in the general population by age five years. Seizures are observed in approximately 25% of individuals with the recurrent deletion. Vertebral anomalies, hearing impairment, macrocephaly, and cardiovascular malformation have each been observed in some individuals. Clinical follow-up data from adults suggests that the greatest medical challenges are obesity and related comorbidities that can be exacerbated by medications used to treat behavioral and psychiatric problems.|GeneReviews|N|
C3150156|Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome is characterised by immune deficiency, gonadal dysgenesis and fatal lung fibrosis. So far, it has been described in two sisters born to consanguineous parents. Both karyotypes were normal female (46,XX). No genetic anomalies could be identified by comparative genome hybridization analysis of their genomes or by analysis of genes known to be associated with these types of anomalies.|ORDO|N|
C3150207|Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the CD79B gene.|MONDO|N|
C3150215|6q25 microdeletion syndrome is a recently described syndrome characterized by developmental delay, facial dysmorphism and hearing loss.|ORDO|N|
C3150274|Lack of production of either functional C1r or C1s protein, due to a genetic defect. Approximately 60% of patients with a C1r/C1s deficiency will develop a severe systemic lupus erythematosus at an early age. Patients also present with frequent sinopulmonary infections often with Streptococcus pneumoniae.|NCI|N|
C3150275|The complement system is a set of plasma proteins that serves as an effector of several biologic functions associated with inflammation, immunoregulation, and cytotoxicity. Deficiency of complement component-2 (C2D) is the most common defect of the complement system in persons of western European descent. In type I C2 deficiency, no C2 protein is translated; in type II, there is a selective block in C2 secretion. More than half of individuals with homozygous C2 deficiency have rheumatologic disorders such as systemic lupus erythematosus, Henoch-Schonlein purpura, or polymyositis. Other individuals experience recurrent pyogenic infections, and some C2-deficient individuals are asymptomatic (summary by Johnson et al., 1992, Wetsel et al., 1996).|OMIM|N|
C3150343|Hexokinase deficiency is an autosomal recessive disorder characterized by early-onset severe hemolytic anemia (summary by van Wijk et al., 2003).|OMIM|N|
C3150358|An increased concentration of prostaglandin E2 in the blood.|HPO|N|
C3150411|Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A), which includes both the more severe Walker-Warburg syndrome (WWS) and the slightly less severe muscle-eye-brain disease (MEB), is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. It represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of DAG1 (128239), collectively known as 'dystroglycanopathies' (van Reeuwijk et al., 2005).
For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (236670).|OMIM|N|
C3150412|MDDGB3 is an autosomal recessive congenital muscular dystrophy with impaired intellectual development and mild brain abnormalities (Clement et al., 2008). It is part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1; 128239), collectively known  as 'dystroglycanopathies' (Mercuri et al., 2009).
For a discussion of genetic heterogeneity of congenital muscular dystrophy-dystroglycanopathy type B, see MDDGB1 (613155).|OMIM|N|
C3150413|Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A), which includes both the more severe Walker-Warburg syndrome (WWS) and the slightly less severe muscle-eye-brain disease (MEB), is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. It represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of DAG1 (128239), collectively known as 'dystroglycanopathies' (Beltran-Valero de Bernabe et al., 2004).
For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (236670).|OMIM|N|
C3150414|Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A), which includes both the more severe Walker-Warburg syndrome (WWS) and the slightly less severe muscle-eye-brain disease (MEB), is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. It represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of DAG1 (128239), collectively known as 'dystroglycanopathies' (Godfrey et al., 2007).
For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (236670).|OMIM|N|
C3150416|MDDGB2 is an autosomal recessive congenital muscular dystrophy associated with impaired intellectual development and mild structural brain abnormalities (Yanagisawa et al., 2007). It is part of a group of similar disorders, collectively known as 'dystroglycanopathies,' resulting from defective glycosylation of alpha-dystroglycan (DAG1; 128239) (Godfrey et al., 2007).
For a discussion of genetic heterogeneity of congenital muscular dystrophy-dystroglycanopathy type B, see MDDGB1 (613155).|OMIM|N|
C3150417|MDDGC3 is a rare form of autosomal recessive limb-girdle muscular dystrophy with normal cognition (Clement et al., 2008). It is part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1; 128239), collectively known as 'dystroglycanopathies' (Godfrey et al., 2007).
For a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type C, see MDDGC1 (609308).|OMIM|N|
C3150418|MDDGC2 is an autosomal recessive muscular dystrophy with onset after ambulation is achieved. Cognition is normal (Biancheri et al., 2007). It is part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1; 128239), collectively known  as 'dystroglycanopathies' (Godfrey et al., 2007).
For a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type C, see MDDGC1 (609308).|OMIM|N|
C3150419|The nephronophthisis (NPH) phenotype is characterized by reduced renal concentrating ability, chronic tubulointerstitial nephritis, cystic renal disease, and progression to end-stage renal disease (ESRD) before age 30 years. Three age-based clinical subtypes are recognized: infantile, juvenile, and adolescent/adult. Infantile NPH can present in utero with oligohydramnios sequence (limb contractures, pulmonary hypoplasia, and facial dysmorphisms) or postnatally with renal manifestations that progress to ESRD before age 3 years. Juvenile NPH, the most prevalent subtype, typically presents with polydipsia and polyuria, growth retardation, chronic iron-resistant anemia, or other findings related to chronic kidney disease (CKD). Hypertension is typically absent due to salt wasting. ESRD develops at a median age of 13 years. Ultrasound findings are increased echogenicity, reduced corticomedullary differentiation, and renal cysts (in 50% of affected individuals). Histologic findings include tubulointerstitial fibrosis, thickened and disrupted tubular basement membrane, sporadic corticomedullary cysts, and normal or reduced kidney size. Adolescent/adult NPH is clinically similar to juvenile NPH, but ESRD develops at a median age of 19 years. Within a subtype, inter- and intrafamilial variability in rate of progression to ESRD is considerable. Approximately 80%-90% of individuals with the NPH phenotype have no extrarenal features (i.e., they have isolated NPH); ~10%-20% have extrarenal manifestations that constitute a recognizable syndrome (e.g., Joubert syndrome, Bardet-Biedl syndrome, Jeune syndrome and related skeletal disorders, Meckel-Gruber syndrome, Senior-Løken syndrome, Leber congenital amaurosis, COACH syndrome, and oculomotor apraxia, Cogan type).|GeneReviews|N|
C3150463|Pseudopili annulati is an unusual variant of normal hair characterized by a banded appearance of the hair under reflective light, as observed in pili annulati (180600), but resulting from a distinct underlying physical defect. There is no increased hair fragility (Price et al., 1970).|OMIM|N|
C3150510|An abnormality of the humoral immune system, which comprises antibodies produced by B cells as well as the complement system.|HPO|N|
C3150545|Handigodu disease is a autosomal dominant spondyloepimetaphyseal dysplasia prevalent in a few villages of 2 districts of the state of Karnataka in southern India (Agarwal et al., 1994).|OMIM|N|
C3150546|BRCA1- and BRCA2-associated hereditary breast and ovarian cancer (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (including fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. The risk of developing an associated cancer varies depending on whether HBOC is caused by a BRCA1 or BRCA2 pathogenic variant.|GeneReviews|N|
C3150547|Individuals with mutation in the PALB2 gene have an increased risk of developing pancreatic cancer. In addition, PALB2 variants increase susceptibility to several other cancers, e.g., familial breast-ovarian cancer (BROVCA5; 620422) (Jones et al., 2009; Yang et al., 2020).
For background, phenotypic description, and a discussion of genetic heterogeneity of pancreatic carcinoma, see 260350.|OMIM|N|
C3150607|17q23.1q23.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, short stature, heart defects and limb abnormalities.|ORDO|N|
C3150613|Toes that appear disproportionately long compared to the foot.|HPO|N|
C3150617|RCAD is associated with a combination of diabetes and kidney or urinary tract abnormalities (unrelated to the elevated blood glucose), most commonly fluid-filled sacs (cysts) in the kidneys. However, the signs and symptoms are variable, even within families, and not everyone with RCAD has both features. Affected individuals may have other features unrelated to diabetes, such as abnormalities of the pancreas or liver or a form of arthritis called gout.\n\nGCK-MODY is a very mild type of the condition. People with this type have slightly elevated blood glucose levels, particularly in the morning before eating (fasting blood glucose). However, affected individuals often have no symptoms related to the disorder, and diabetes-related complications are extremely rare.\n\nHNF1A-MODY and HNF4A-MODY have similar signs and symptoms that develop slowly over time. Early signs and symptoms in these types are caused by high blood glucose and may include frequent urination (polyuria), excessive thirst (polydipsia), fatigue, blurred vision, weight loss, and recurrent skin infections. Over time uncontrolled high blood glucose can damage small blood vessels in the eyes and kidneys. Damage to the light-sensitive tissue at the back of the eye (the retina) causes a condition known as diabetic retinopathy that can lead to vision loss and eventual blindness. Kidney damage (diabetic nephropathy) can lead to kidney failure and end-stage renal disease (ESRD). While these two types of MODY are very similar, certain features are particular to each type. For example, babies with HNF4A-MODY tend to weigh more than average or have abnormally low blood glucose at birth, even though other signs of the condition do not occur until childhood or young adulthood. People with HNF1A-MODY have a higher-than-average risk of developing noncancerous (benign) liver tumors known as hepatocellular adenomas.\n\nThe different types of MODY are distinguished by their genetic causes. The most common types are HNF1A-MODY (also known as MODY3), accounting for 50 to 70 percent of cases, and GCK-MODY (MODY2), accounting for 30 to 50 percent of cases. Less frequent types include HNF4A-MODY (MODY1) and renal cysts and diabetes (RCAD) syndrome (also known as HNF1B-MODY or MODY5), which each account for 5 to 10 percent of cases. At least ten other types have been identified, and these are very rare.\n\nMaturity-onset diabetes of the young (MODY) is a group of several conditions characterized by abnormally high levels of blood glucose, also called blood sugar. These forms of diabetes typically begin before age 30, although they can occur later in life. In MODY, elevated blood glucose arises from reduced production of insulin, which is a hormone produced in the pancreas that helps regulate blood glucose levels. Specifically, insulin controls how much glucose (a type of sugar) is passed from the blood into cells, where it is used as an energy source.|MedlinePlus Genetics|N|
C3150618|Maturity-onset diabetes of the young (MODY) is a group of several conditions characterized by abnormally high levels of blood glucose, also called blood sugar. These forms of diabetes typically begin before age 30, although they can occur later in life. In MODY, elevated blood glucose arises from reduced production of insulin, which is a hormone produced in the pancreas that helps regulate blood glucose levels. Specifically, insulin controls how much glucose (a type of sugar) is passed from the blood into cells, where it is used as an energy source.\n\nThe different types of MODY are distinguished by their genetic causes. The most common types are HNF1A-MODY (also known as MODY3), accounting for 50 to 70 percent of cases, and GCK-MODY (MODY2), accounting for 30 to 50 percent of cases. Less frequent types include HNF4A-MODY (MODY1) and renal cysts and diabetes (RCAD) syndrome (also known as HNF1B-MODY or MODY5), which each account for 5 to 10 percent of cases. At least ten other types have been identified, and these are very rare.\n\nHNF1A-MODY and HNF4A-MODY have similar signs and symptoms that develop slowly over time. Early signs and symptoms in these types are caused by high blood glucose and may include frequent urination (polyuria), excessive thirst (polydipsia), fatigue, blurred vision, weight loss, and recurrent skin infections. Over time uncontrolled high blood glucose can damage small blood vessels in the eyes and kidneys. Damage to the light-sensitive tissue at the back of the eye (the retina) causes a condition known as diabetic retinopathy that can lead to vision loss and eventual blindness. Kidney damage (diabetic nephropathy) can lead to kidney failure and end-stage renal disease (ESRD). While these two types of MODY are very similar, certain features are particular to each type. For example, babies with HNF4A-MODY tend to weigh more than average or have abnormally low blood glucose at birth, even though other signs of the condition do not occur until childhood or young adulthood. People with HNF1A-MODY have a higher-than-average risk of developing noncancerous (benign) liver tumors known as hepatocellular adenomas.\n\nGCK-MODY is a very mild type of the condition. People with this type have slightly elevated blood glucose levels, particularly in the morning before eating (fasting blood glucose). However, affected individuals often have no symptoms related to the disorder, and diabetes-related complications are extremely rare.\n\nRCAD is associated with a combination of diabetes and kidney or urinary tract abnormalities (unrelated to the elevated blood glucose), most commonly fluid-filled sacs (cysts) in the kidneys. However, the signs and symptoms are variable, even within families, and not everyone with RCAD has both features. Affected individuals may have other features unrelated to diabetes, such as abnormalities of the pancreas or liver or a form of arthritis called gout.|MedlinePlus Genetics|N|
C3150619|Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the HSPB3 gene.|MONDO|N|
C3150620|Reduced strength of the distal musculature of the arms.|HPO|N|
C3150644|Any brachydactyly type E in which the cause of the disease is a mutation in the PTHLH gene.|MONDO|N|
C3150649|Syndromic multisystem autoimmune disease due to Itch deficiency is a rare, genetic, systemic autoimmune disease characterized by failure to thrive, global developmental delay, distinctive craniofacial dysmorphism (relative macrocephaly, dolichocephaly, frontal bossing, orbital proptosis, flattened midface with a prominent occiput, low, posteriorly rotated ears, micrognatia), hepato- and/or splenomegaly, and multisystemic autoimmune disease involving the lungs, liver, gut and/or thyroid gland.|ORDO|N|
C3150651|NAFLD and NASH are thought to account for many cases of cirrhosis that have no obvious underlying cause (cryptogenic cirrhosis); at least one-third of people with NASH eventually develop cirrhosis. People with NAFLD, NASH, and cirrhosis are also at increased risk of developing liver cancer (hepatocellular cancer).\n\nBetween 7 and 30 percent of people with NAFLD develop inflammation of the liver (non-alcoholic steatohepatitis, also known as NASH), leading to liver damage. Minor damage to the liver can be repaired by the body. However, severe or long-term damage can lead to the replacement of normal liver tissue with scar tissue (fibrosis), resulting in irreversible liver disease (cirrhosis) that causes the liver to stop working properly. Signs and symptoms of cirrhosis, which get worse as fibrosis affects more of the liver, include fatigue, weakness, loss of appetite, weight loss, nausea, swelling (edema), and yellowing of the skin and whites of the eyes (jaundice). Scarring in the vein that carries blood into the liver from the other digestive organs (the portal vein) can lead to increased pressure in that blood vessel (portal hypertension), resulting in swollen blood vessels (varices) within the digestive system. Rupture of these varices can cause life-threatening bleeding.\n\nThe fat deposits in the liver associated with NAFLD usually cause no symptoms, although they may cause increased levels of liver enzymes that are detected in routine blood tests. Some affected individuals have abdominal pain or fatigue. During a physical examination, the liver may be found to be slightly enlarged.\n\nNAFLD is most common in middle-aged or older people, although younger people, including children, are also affected. It is often considered as part of a group of conditions known collectively as the metabolic syndrome; in addition to NAFLD, the metabolic syndrome includes obesity, type 2 diabetes or pre-diabetes (insulin resistance), high levels of fats (lipids) such as cholesterol and triglycerides in the blood, and high blood pressure (hypertension). However, a person with NAFLD may not have all or any of the other conditions that make up the metabolic syndrome, and individuals with some or all of those conditions may not have NAFLD.\n\nNon-alcoholic fatty liver disease (NAFLD) is a buildup of excessive fat in the liver that can lead to liver damage resembling the damage caused by alcohol abuse, but that occurs in people who do not drink heavily. The liver is a part of the digestive system that helps break down food, store energy, and remove waste products, including toxins. The liver normally contains some fat; an individual is considered to have a fatty liver (hepatic steatosis) if the liver contains more than 5 to 10 percent fat.|MedlinePlus Genetics|N|
C3150652|Any Fanconi syndrome in which the cause of the disease is a mutation in the SLC34A1 gene.|MONDO|N|
C3150653|Fanconi anemia (FA) is characterized by physical abnormalities, bone marrow failure, and increased risk for malignancy. Physical abnormalities, present in approximately 75% of affected individuals, include one or more of the following: short stature, abnormal skin pigmentation, skeletal malformations of the upper and/or lower limbs, microcephaly, and ophthalmic and genitourinary tract anomalies. Progressive bone marrow failure with pancytopenia typically presents in the first decade, often initially with thrombocytopenia or leukopenia. The incidence of acute myeloid leukemia is 13% by age 50 years. Solid tumors – particularly of the head and neck, skin, and genitourinary tract – are more common in individuals with FA.|GeneReviews|N|
C3150654|Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the PTPRQ gene.|MONDO|N|
C3150658|Warsaw syndrome is characterized by the clinical triad of severe congenital microcephaly, growth restriction, and sensorineural hearing loss due to cochlear hypoplasia. Intellectual disability is typically in the mild-to-moderate range. Severe speech delay is common. Gross and fine motor milestones are usually attained at the usual time, although a few individuals have mild delays. Additional common features include skeletal anomalies and cardiovascular anomalies. Abnormal skin pigmentation and genitourinary malformations have also been reported. Some individuals have had increased chromosome breakage and radial forms on cytogenetic testing of lymphocytes treated with diepoxybutane and mitomycin C.|GeneReviews|N|
C3150659|Any hereditary breast ovarian cancer syndrome in which the cause of the disease is a mutation in the RAD51C gene.|MONDO|N|
C3150667|Microcephaly, seizures, and developmental delay (MCSZ) is an autosomal recessive neurodevelopmental disorder with onset in infancy. There is a range of phenotypic severity: some patients develop refractory seizures in infancy, consistent with a developmental and epileptic encephalopathy (DEE), whereas others have more well-controlled seizures and a more protracted course associated with cerebellar atrophy and peripheral neuropathy (Shen et al., 2010 and Poulton et al., 2013).
For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350.|OMIM|N|
C3150672|Arthrogryposis, renal dysfunction, and cholestasis-2 (ARCS2) is a multisystem disorder associated with abnormalities in polarized liver and kidney cells (Qiu et al., 2019).
For a general phenotypic description and a discussion of genetic heterogeneity of ARCS, see ARCS1 (208085).|OMIM|N|
C3150674|15q24 microdeletion syndrome is a rare chromosomal anomaly characterized cytogenetically by a 1.7-6.1 Mb deletion in chromosome 15q24 and clinically by pre- and post-natal growth retardation, intellectual disability, distinct facial features, and genital, skeletal, and digital anomalies.|ORDO|N|
C3150677|Autism, the prototypic pervasive developmental disorder (PDD), is usually apparent by 3 years of age. It is characterized by a triad of limited or absent verbal communication, a lack of reciprocal social interaction or responsiveness, and restricted, stereotypic, and ritualized patterns of interests and behavior (Bailey et al., 1996; Risch et al., 1999). 'Autism spectrum disorder,' sometimes referred to as ASD, is a broader phenotype encompassing the less severe disorders Asperger syndrome (see ASPG1; 608638) and pervasive developmental disorder, not otherwise specified (PDD-NOS). 'Broad autism phenotype' includes individuals with some symptoms of autism, but who do not meet the full criteria for autism or other disorders. Mental retardation coexists in approximately two-thirds of individuals with ASD, except for Asperger syndrome, in which mental retardation is conspicuously absent (Jones et al., 2008). Genetic studies in autism often include family members with these less stringent diagnoses (Schellenberg et al., 2006).
For a discussion of heterogeneity of autism, see 209850.|OMIM|N|
C3150678|Oguchi disease is a rare autosomal recessive form of congenital stationary night blindness in which all other visual functions, including visual acuity, visual field, and color vision, are usually normal. A typical feature of the disease is a golden or gray-white discoloration of the fundus that disappears in the dark-adapted state and reappears shortly after the onset of light (Mizuo phenomenon). The course of dark adaptation of rod photoreceptors is extremely retarded, whereas that of cones appears to proceed normally (summary by Fuchs et al., 1995).
For a general description and a discussion of genetic heterogeneity of Oguchi disease, see CSNBO1 (258100).|OMIM|N|
C3150681|Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the ACTC1 gene.|MONDO|N|
C3150691|Retinitis pigmentosa-54 (RP54) is characterized by typical signs of RP, including poor night vision and peripheral field loss, retinal bone spicule-type pigment deposits, pale optic discs, and markedly reduced or extinguished responses on electroretinography. Atypical features that have been observed include early degeneration of the cone photoreceptor system with macular abnormalities, and ring scotoma on the visual field (Collin et al., 2010). Patients may exhibit an early-onset form of cone-rod dystrophy (CORD23), with central vision loss and ring scotoma around the fovea that progresses to marked chorioretinal atrophy in the macular area (Serra et al., 2019).
For a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000. For a general phenotypic description and discussion of genetic heterogeneity of cone-rod dystrophy, see CORD2 (120970).|OMIM|N|
C3150692|Amyotrophic lateral sclerosis-12 with or without frontotemporal dementia (ALS12) is a neurodegenerative disorder characterized by onset of ALS in adulthood. Rare patients may also develop frontotemporal dementia (FTD). Autosomal dominant and autosomal recessive inheritance patterns have been reported; there is also sporadic occurrence (summary by Maruyama et al., 2010 and Feng et al., 2019).
For a general phenotypic description and a discussion of genetic heterogeneity of amyotrophic lateral sclerosis, see ALS1 (105400).|OMIM|N|
C3150693|Autism, the prototypic pervasive developmental disorder (PDD), is usually apparent by 3 years of age. It is characterized by a triad of limited or absent verbal communication, a lack of reciprocal social interaction or responsiveness, and restricted, stereotypic, and ritualized patterns of interests and behavior (Bailey et al., 1996; Risch et al., 1999). 'Autism spectrum disorder,' sometimes referred to as ASD, is a broader phenotype encompassing the less severe disorders Asperger syndrome (see ASPG1; 608638) and pervasive developmental disorder, not otherwise specified (PDD-NOS). 'Broad autism phenotype' includes individuals with some symptoms of autism, but who do not meet the full criteria for autism or other disorders. Mental retardation coexists in approximately two-thirds of individuals with ASD, except for Asperger syndrome, in which mental retardation is conspicuously absent (Jones et al., 2008). Genetic studies in autism often include family members with these less stringent diagnoses (Schellenberg et al., 2006).
For a discussion of genetic heterogeneity of autism, see 209850.|OMIM|N|
C3150700|Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language (NEDHSIL) is characterized by global developmental delay with hypotonia, poor motor development with limited walking, impaired intellectual development with poor or absent speech, and behavioral abnormalities. Almost all affected individuals demonstrate repetitive stereotypic hand movements that can be categorized as hyperkinetic and resembling those of Rett syndrome (RTT; 312750). About 80% of patients develop various types of seizures that may be refractory to treatment. Additional features may include dysmorphic facial features, particularly dysplastic ears, poor eye contact, episodic hyperventilation, tendency to infection, and abnormalities on brain imaging, such as enlarged ventricles, thin corpus callosum, and delayed myelination (summary by Vrecar et al., 2017, Paciorkowski et al., 2013).|OMIM|N|
C3150701|The deletion of a 220-kb region on chromosome 16p11.2 encompassing approximately 9 genes, including the SH2B1 gene (608937), is associated with a highly penetrant form of isolated severe early-onset obesity as well as obesity with developmental delay (summary by Bachmann-Gagescu et al., 2010).
An extended 1.7-Mb deletion of chromosome 16p11.2 containing both the 220-kb region and the proximal 593-kb region associated autism (see 611913) has been reported in 2 patients with a syndrome of autism, mental retardation, and obesity and in 2 patients with pervasive developmental disorder, auditory processing difficulties, and attention deficit-hyperactivity disorder but not obesity.
For a phenotypic description and a discussion of genetic heterogeneity of body mass index (BMI), see 606641.|OMIM|N|
C3150703|Frontonasal dysplasia-2 (FND2) is an autosomal recessive disorder characterized by variable degrees of alopecia, skull defects, hypertelorism, depressed nasal bridge and ridge with notched alae nasi, and abnormal central nervous system findings (summary by Kariminejad et al., 2014).|OMIM|N|
C3150704|Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the SERPINB6 gene.|MONDO|N|
C3150705|The congenital variant of Rett syndrome is a severe neurodevelopmental disorder with features of classic Rett syndrome (RTT; 312750), but earlier onset in the first months of life. Classic Rett syndrome shows later onset and is caused by mutation in the MECP2 gene (300005).|OMIM|N|
C3150706|Frontonasal dysplasia is a condition that results from abnormal development of the head and face before birth. People with frontonasal dysplasia have at least two of the following features: widely spaced eyes (ocular hypertelorism); a broad nose; a slit (cleft) in one or both sides of the nose; no nasal tip; a central cleft involving the nose, upper lip, or roof of the mouth (palate); incomplete formation of the front of the skull with skin covering the head where bone should be (anterior cranium bifidum occultum); or a widow's peak hairline.\n\nOther features of frontonasal dysplasia can include additional facial malformations, absence or malformation of the tissue that connects the left and right halves of the brain (the corpus callosum), and intellectual disability.\n\nLife expectancy of affected individuals depends on the severity of the malformations and whether or not surgical intervention can improve associated health problems, such as breathing and feeding problems caused by the facial clefts.\n\nThere are at least three types of frontonasal dysplasia that are distinguished by their genetic causes and their signs and symptoms. In addition to the features previously described, each type of frontonasal dysplasia is associated with other distinctive features. Individuals with frontonasal dysplasia type 1 typically have abnormalities of the nose, a long area between the nose and upper lip (philtrum), and droopy upper eyelids (ptosis). Individuals with frontonasal dysplasia type 2 can have hair loss (alopecia) and an enlarged opening in the two bones that make up much of the top and sides of the skull (enlarged parietal foramina). Males with this form of the condition often have genital abnormalities. Features of frontonasal dysplasia type 3 include eyes that are missing (anophthalmia) or very small (microphthalmia) and low-set ears that are rotated backward. Frontonasal dysplasia type 3 is typically associated with the most severe facial abnormalities, but the severity of the condition varies widely, even among individuals with the same type.|MedlinePlus Genetics|N|
C3150707|14q11.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, hypotonia and facial dysmorphism.|ORDO|N|
C3150708|16p13.3 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from a partial duplication of the short arm of chromosome 16 and manifesting with a variable phenotype which is mostly characterized by: mild to moderate intellectual deficit and developmental delay (particularly speech), normal growth, short, proximally implanted thumbs and other hand and feet malformations (such as camptodactyly, syndactyly, club feet), mild arthrogryposis and characteristic facies (upslanting, narrow palpebral fissures, hypertelorism, mid face hypoplasia, bulbous nasal tip and low set ears). Other reported manifestations include cryptorchidism, inguinal hernia and behavioral problems.|ORDO|N|
C3150715|Any retinitis pigmentosa in which the cause of the disease is a mutation in the TTC8 gene.|MONDO|N|
C3150730|Glucose phosphate isomerase (GPI) deficiency is an inherited disorder that affects red blood cells, which carry oxygen to the body's tissues. People with this disorder have a condition known as chronic hemolytic anemia, in which red blood cells are broken down (undergo hemolysis) prematurely, resulting in a shortage of red blood cells (anemia). Chronic hemolytic anemia can lead to unusually pale skin (pallor), yellowing of the eyes and skin (jaundice), extreme tiredness (fatigue), shortness of breath (dyspnea), and a rapid heart rate (tachycardia). An enlarged spleen (splenomegaly), an excess of iron in the blood, and small pebble-like deposits in the gallbladder or bile ducts (gallstones) may also occur in this disorder.\n\nHemolytic anemia in GPI deficiency can range from mild to severe. In the most severe cases, affected individuals do not survive to birth. Individuals with milder disease can survive into adulthood. People with any level of severity of the disorder can have episodes of more severe hemolysis, called hemolytic crises, which can be triggered by bacterial or viral infections.\n\nA small percentage of individuals with GPI deficiency also have neurological problems, including intellectual disability and difficulty with coordinating movements (ataxia).|MedlinePlus Genetics|N|
C3150731|Developmental and epileptic encephalopathy-5 (DEE5) is a neurologic disorder characterized by global developmental delay and the onset of tonic seizures or infantile spasms in the first months of life. The seizures tend to be refractory to treatment, and EEG shows hypsarrhythmia, consistent with a clinical diagnosis of West syndrome. Affected individuals have severely impaired psychomotor development with lack of visual attention, poor head control, feeding difficulties, microcephaly, and spastic quadriplegia. Brain imaging may show cerebral atrophy and hypomyelination (summary by Saitsu et al., 2010).
For a general phenotypic description and a discussion of genetic heterogeneity of developmental and epileptic encephalopathy, see 308350.|OMIM|N|
C3150733|Long QT syndrome (LQTS) is a cardiac electrophysiologic disorder, characterized by QT prolongation and T-wave abnormalities on the EKG that are associated with tachyarrhythmias, typically the ventricular tachycardia torsade de pointes (TdP). TdP is usually self-terminating, thus causing a syncopal event, the most common symptom in individuals with LQTS. Such cardiac events typically occur during exercise and emotional stress, less frequently during sleep, and usually without warning. In some instances, TdP degenerates to ventricular fibrillation and causes aborted cardiac arrest (if the individual is defibrillated) or sudden death. Approximately 50% of untreated individuals with a pathogenic variant in one of the genes associated with LQTS have symptoms, usually one to a few syncopal events. While cardiac events may occur from infancy through middle age, they are most common from the preteen years through the 20s. Some types of LQTS are associated with a phenotype extending beyond cardiac arrhythmia. In addition to the prolonged QT interval, associations include muscle weakness and facial dysmorphism in Andersen-Tawil syndrome (LQTS type 7); hand/foot, facial, and neurodevelopmental features in Timothy syndrome (LQTS type 8); and profound sensorineural hearing loss in Jervell and Lange-Nielson syndrome.|GeneReviews|N|
C3150740|Any common variable immunodeficiency in which the cause of the disease is a mutation in the MS4A1 gene.|MONDO|N|
C3150741|Any common variable immunodeficiency in which the cause of the disease is a mutation in the CD81 gene.|MONDO|N|
C3150750|Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the IGLL1 gene.|MONDO|N|
C3150751|Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the CD79A gene.|MONDO|N|
C3150752|Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the BLNK gene.|MONDO|N|
C3150753|Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the LRRC8A gene.|MONDO|N|
C3150754|Glycogen storage disease type 15 is an extremely rare genetic glycogen storage disease reported in one patient to date. Clinical signs included muscle weakness, cardiac arrhythmia associated with accumulation of abnormal storage material in the heart and glycogen depletion in skeletal muscle.|ORDO|N|
C3150756|The 4q21 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, progressive growth restriction, severe intellectual deficit and absent or severely delayed speech.|ORDO|N|
C3150757|Autosomal recessive isolated posterior microphthalmos defines a rare distinct phenotype restricted to the posterior segment of the eye. In adults, it is clinically characterized by extreme hyperopia (from +7.5 to +21 diopters) due to short axial length (14 mm to 20 mm; normal is greater than 21 mm). Other features include an essentially normal anterior segment, steep corneal curvatures, shallow anterior chamber, thick lenses, and thickened scleral wall. The palpebral fissures appear narrow because of relatively deep-set eyes, visual acuity is mildly to moderately reduced, and anisometropic or strabismic amblyopia is common. The fundus of the eye shows crowded optical discs, tortuous vessels, and an abnormal foveal avascular zone; in addition, papillomacular folds are often reported. Morphometric features of the small eyes predispose to complications such as narrow-angle glaucoma and uveal effusion (summary by Gal et al., 2011).
For a general phenotypic description and a discussion of genetic heterogeneity of isolated microphthalmia, see MCOP1 (251600).|OMIM|N|
C3150763|An inherited susceptibility or predisposition to developing atopic dermatitis that is associated with variation in the region 4q22.1.|MONDO|N|
C3150764|An inherited susceptibility or predisposition to developing atopic dermatitis that is associated with variation in the region 3p24.|MONDO|N|
C3150773|The 8p11 myeloproliferative syndrome is a rare aggressive condition characterized in its typical form by the occurrence, either simultaneously or sequentially, of a BCR/ABL-negative myeloproliferative disorder and a lymphoma, usually a precursor T-lymphoblastic lymphoma. The disease most often terminates in acute myeloid leukemia (Goradia et al., 2008).|OMIM|N|
C3150786|Limb-girdle muscular dystrophy type 1H (LGMD1H) is an autosomal dominant disorder characterized by adult onset of progressive proximal muscle weakness affecting both the upper and lower limbs (Bisceglia et al., 2010).
For a phenotypic description and a discussion of genetic heterogeneity of autosomal dominant limb-girdle muscular dystrophy, see LGMDD1 (603511).|OMIM|N|
C3150790|The cardinal features of chromosome 6q11-q14 interstitial deletions include hypotonia, short stature, skeletal/limb anomalies, umbilical hernia, and urinary tract anomalies, as well as characteristic facial features including upslanting palpebral fissures, low-set and/or dysplastic ears, and high-arched palate (summary by Wang et al., 2009).|OMIM|N|
C3150792|Macrostomia is a congenital defect resulting from persistent lateral facial clefts, caused by failure of the maxillary and mandibular portions of the first branchial arch to unite normally. Macrostomia is a rare anomaly, with an estimated incidence of 1 in 150,000 to 300,000 births and is most often associated with other anomalies. Unilateral macrostomia is more common than bilateral (summary by Hawkins et al., 1973).|OMIM|N|
C3150796|The nephronophthisis (NPH) phenotype is characterized by reduced renal concentrating ability, chronic tubulointerstitial nephritis, cystic renal disease, and progression to end-stage renal disease (ESRD) before age 30 years. Three age-based clinical subtypes are recognized: infantile, juvenile, and adolescent/adult. Infantile NPH can present in utero with oligohydramnios sequence (limb contractures, pulmonary hypoplasia, and facial dysmorphisms) or postnatally with renal manifestations that progress to ESRD before age 3 years. Juvenile NPH, the most prevalent subtype, typically presents with polydipsia and polyuria, growth retardation, chronic iron-resistant anemia, or other findings related to chronic kidney disease (CKD). Hypertension is typically absent due to salt wasting. ESRD develops at a median age of 13 years. Ultrasound findings are increased echogenicity, reduced corticomedullary differentiation, and renal cysts (in 50% of affected individuals). Histologic findings include tubulointerstitial fibrosis, thickened and disrupted tubular basement membrane, sporadic corticomedullary cysts, and normal or reduced kidney size. Adolescent/adult NPH is clinically similar to juvenile NPH, but ESRD develops at a median age of 19 years. Within a subtype, inter- and intrafamilial variability in rate of progression to ESRD is considerable. Approximately 80%-90% of individuals with the NPH phenotype have no extrarenal features (i.e., they have isolated NPH); ~10%-20% have extrarenal manifestations that constitute a recognizable syndrome (e.g., Joubert syndrome, Bardet-Biedl syndrome, Jeune syndrome and related skeletal disorders, Meckel-Gruber syndrome, Senior-Løken syndrome, Leber congenital amaurosis, COACH syndrome, and oculomotor apraxia, Cogan type).|GeneReviews|N|
C3150797|Any autoimmune disease in which the cause of the disease is a mutation in the SIAE gene.|MONDO|N|
C3150801|A rare mitochondrial disease due to a defect in mitochondrial protein synthesis with a variable phenotype that includes onset in infancy or early childhood of failure to thrive and psychomotor regression (after initial normal development), as well as ocular manifestations (such as ptosis, nystagmus, optic atrophy, ophthalmoplegia and reduced vision). Additional manifestations include bulbar paresis with facial weakness, hypotonia, difficulty chewing, dysphagia, mild dysarthria, ataxia, global muscle atrophy, and areflexia. It has a relatively slow disease progression with patients often living into the third decade of life.|SNOMEDCT_US|N|
C3150802|Myopathy, lactic acidosis, and sideroblastic anemia-2 (MLASA2) is an autosomal recessive disorder of the mitochondrial respiratory chain. The disorder shows marked phenotypic variability: some patients have a severe multisystem disorder from infancy, including cardiomyopathy and respiratory insufficiency resulting in early death, whereas others present in the second or third decade of life with sideroblastic anemia and mild muscle weakness (summary by Riley et al., 2013).
For a discussion of genetic heterogeneity of MLASA, see MLASA1 (600462).|OMIM|N|
C3150803|Noonan syndrome-like disorder is a developmental disorder resembling Noonan syndrome (NS1; 163950) and characterized by facial dysmorphism, a wide spectrum of cardiac disease, reduced growth, variable cognitive deficits, and ectodermal and musculoskeletal anomalies. There is extensive phenotypic heterogeneity and variable expressivity (summary by Martinelli et al., 2010). Patients with heterozygous germline CBL mutations have an increased risk for certain malignancies, particularly juvenile myelomonocytic leukemia (JMML; 607785), as also seen in patients with Noonan syndrome (summary by Niemeyer et al., 2010).|OMIM|N|
C3150807|Ectodermal dysplasia-syndactyly syndrome (EDSS) is characterized by sparse to absent scalp hair, eyebrows, and eyelashes, hypoplastic nails, tooth enamel hypoplasia, conical-shaped teeth, palmoplantar keratoderma, and partial cutaneous syndactyly (summary by Raza et al., 2015).
Genetic Heterogeneity of Ectodermal Dysplasia-Syndactyly Syndrome
Ectodermal dysplasia-syndactyly syndrome-2 (EDSS2; 613576) maps to chromosome 7p21-p14.|OMIM|N|
C3150808|Any retinitis pigmentosa in which the cause of the disease is a mutation in the ARL6 gene.|MONDO|N|
C3150819|Retinitis pigmentosa-56 (RP56) is an early-onset form of RP with progressive visual-field loss and deterioration of visual acuity (Bandah-Rozenfeld et al., 2010).
For a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000.|OMIM|N|
C3150821|Any retinitis pigmentosa in which the cause of the disease is a mutation in the PDE6G gene.|MONDO|N|
C3150833|Occult macular dystrophy (OCMD) is characterized by progressive decline of visual acuity in both eyes, associated with a normal fundus and normal fluorescein angiography. Patients have normal full-field electroretinograms (ERGs) but severely reduced focal macular ERGs, as recorded by conventional techniques using small stimuli under background illumination. OCMD patients are believed to have localized retinal dysfunction distal to the ganglion cells in the central retina (summary by Piao et al., 2000).|OMIM|N|
C3150851|Torsade de pointes is characterized by an electrocardiographic (ECG) pattern of nonuniform but still-organized electrical activity with progressive changes in morphology, amplitude, and polarity of the QRS complexes, the peaks of which twist around the isoelectric baseline before ending spontaneously. In classic torsade de pointes, the coupling interval of the first beat is long (see LQT1, 192500), whereas in this short-coupled variant, the coupling interval of the first beat is very short (summary by Leenhardt et al., 1994).|OMIM|N|
C3150852|Electrocardiographic (ECG) early repolarization, defined as an elevation of the QRS-ST junction (J-point) of at least 1.0 mm (0.1 mV) from baseline in the inferior or lateral lead, manifest as QRS slurring or notching, is a common ECG finding that is generally considered to be benign but may be associated with ventricular fibrillation in some patients (summary by Haissaguerre et al., 2008).|OMIM|N|
C3150858|The chromosome 16p12.2-p11.2 deletion syndrome is characterized phenotypically by dysmorphic facial features, feeding difficulties, recurrent ear infections, developmental delay, and cognitive impairment. Additional features, such as heart defects and short stature, are variable (Ballif et al., 2007; Battaglia et al., 2009).
The pericentric region of chromosome 16, specifically involving 16p12-p11, is a structurally complex region enriched in repetitive sequence elements, rendering this region susceptible to deletion or rearrangement (Ballif et al., 2007). There are several phenotypes associated with variation in this region: see 611913 for a deletion or duplication at 16p11.2 associated with autism; see 136570 for discussion of a recurrent 520-kb deletion at 16p12.1 associated with developmental delay and craniofacial dysmorphism; and see 613444 for a 220-kb deletion at 16p11.2 associated with isolated severe early-onset obesity and obesity with developmental delay.
Battaglia et al. (2009) emphasized that the region at chromosome 16p11.2 that confers susceptibility to autism (AUTS14; see 611913) is located more centromeric to and is distinct from the 16p12.2-p11.2 region involved in the multiple congenital anomalies and intellectual disability phenotype.|OMIM|N|
C3150860|Familial adult myoclonic epilepsy-3 (FAME3) is an autosomal dominant neurologic disorder characterized by onset of cortical tremor, mainly affecting the hands and voice, between 10 and 40 years of age, with adult onset being more common. Most affected individuals develop epilepsy with generalized tonic-clonic seizures; some may have partial or absence seizures. The disorder is nonprogressive or slowly progressive, and most patients respond to antiseizure medication (summary by Florian et al., 2019).
For a phenotypic description and a discussion of genetic heterogeneity of familial adult myoclonic epilepsy, see FAME1 (601068).|OMIM|N|
C3150874|Cranioectodermal dysplasia (CED) is a ciliopathy with skeletal involvement (narrow thorax, shortened proximal limbs, syndactyly, polydactyly, brachydactyly), ectodermal features (widely spaced hypoplastic teeth, hypodontia, sparse hair, skin laxity, abnormal nails), joint laxity, growth deficiency, and characteristic facial features (frontal bossing, low-set simple ears, high forehead, telecanthus, epicanthal folds, full cheeks, everted lower lip). Most affected children develop nephronophthisis that often leads to end-stage kidney disease in infancy or childhood, a major cause of morbidity and mortality. Hepatic fibrosis and retinal dystrophy are also observed. Dolichocephaly, often secondary to sagittal craniosynostosis, is a primary manifestation that distinguishes CED from most other ciliopathies. Brain malformations and developmental delay may also occur.|GeneReviews|N|
C3150875|A rare genetic disease characterized by choanal atresia and early onset of lymphedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear and high-arched palate), hypoplastic nipples and pectus excavatum.|SNOMEDCT_US|N|
C3150876|COG5-congenital disorder of glycosylation (COG5-CDG, formerly known as congenital disorder of glycosylation type IIi) is an inherited condition that causes neurological problems and other abnormalities. The pattern and severity of this disorder's signs and symptoms vary among affected individuals.\n\nIndividuals with COG5-CDG typically develop signs and symptoms of the condition during infancy. These individuals often have weak muscle tone (hypotonia) and delayed development. Other neurological features include moderate to severe intellectual disability, poor coordination, and difficulty walking. Some affected individuals never learn to speak. Other features of COG5-CDG include short stature, an unusually small head size (microcephaly), and distinctive facial features, which can include ears that are set low and rotated backward, a short neck with a low hairline in the back, and a prominent nose. Less commonly, affected individuals can have hearing loss caused by changes in the inner ear (sensorineural hearing loss), vision impairment, damage to the nerves that control bladder function (a condition called neurogenic bladder), liver disease, and joint deformities (contractures).|MedlinePlus Genetics|N|
C3150877|Senior-Løken syndrome is a rare disorder characterized by the combination of two specific features: a kidney condition called nephronophthisis and an eye condition known as Leber congenital amaurosis.\n\nNephronophthisis causes fluid-filled cysts to develop in the kidneys beginning in childhood. These cysts impair kidney function, initially causing increased urine production (polyuria), excessive thirst (polydipsia), general weakness, and extreme tiredness (fatigue). Nephronophthisis leads to end-stage renal disease (ESRD) later in childhood or in adolescence. ESRD is a life-threatening failure of kidney function that occurs when the kidneys are no longer able to filter fluids and waste products from the body effectively.\n\nLeber congenital amaurosis primarily affects the retina, which is the specialized tissue at the back of the eye that detects light and color. This condition causes vision problems, including an increased sensitivity to light (photophobia), involuntary movements of the eyes (nystagmus), and extreme farsightedness (hyperopia). Some people with Senior-Løken syndrome  develop the signs of Leber congenital amaurosis within the first few years of life, while others do not develop vision problems until later in childhood.|MedlinePlus Genetics|N|
C3150878|Primary hyperoxaluria is an autosomal recessive disorder of glyoxylate metabolism that results in excessive endogenous oxalate synthesis and the formation of calcium oxalate kidney stones. Progressive renal inflammation and interstitial fibrosis from advanced nephrocalcinosis, recurrent urolithiasis, and urinary tract infections can cause reduced renal function, systemic oxalate deposition, and end-stage renal failure. Compared to hyperoxaluria type I (HP1; 259900) and type II (HP2; 260000), HP3 appears to be the least severe, with good preservation of kidney function in most patients. The typical clinical characteristic is early onset of recurrent urolithiasis, but less active stone formation later (summary by Wang et al., 2015).
For a discussion of genetic heterogeneity of primary hyperoxaluria, see 259900.|OMIM|N|
C3150879|Any retinitis pigmentosa in which the cause of the disease is a mutation in the ZNF513 gene.|MONDO|N|
C3150880|17q23.1-q23.2 microduplication is a newly described cause of familial isolated clubfoot.|ORDO|N|
C3150889|Combined deficiency of factor V and factor VIII type 2 (F5F8D2) is characterized by bleeding symptoms similar to those in hemophilia (306700) or parahemophilia (227400), caused by single deficiency of FV (612309) or FVIII (300841), respectively. The most common symptoms are epistaxis, menorrhagia, and excessive bleeding during or after trauma. Plasma FV and FVIII antigen and activity levels are in the range of 5 to 30%. Inheritance of F5F8D2 is autosomal recessive and distinct from the coinheritance of FV deficiency and FVIII deficiency (summary by Zhang and Ginsburg, 2004).
For a general phenotypic description and a discussion of genetic heterogeneity of F5F8D, see 227300.|OMIM|N|
C3150890|An extremely rare syndrome with characteristics of the association of radioulnar synostosis with microcephaly, scoliosis, short stature and intellectual deficit.|SNOMEDCT_US|N|
C3150891|A rare lethal developmental defect during embryogenesis with characteristics of severe fetal malformations. These malformations include craniofacial dysmorphism (abnormal cyst in the cranial region, hypoplastic eyeballs, two orifices in the nasal region separated by a nasal septum, abnormal orifice replacing the mouth), omphalocele and immotile hypoplastic limbs encased under an abnormal, transparent membrane-like skin. Additional features include absence of adnexal structures of the skin on the outer aspect of the limbs, as well as underdeveloped skeletal muscles and bones. Association with tetralogy of Fallot, horseshoe kidneys, diaphragm and lung lobulation defects is reported.|SNOMEDCT_US|N|
C3150892|The tuberculin skin test (TST), or Mantoux test, measures induration of the skin after intradermal inoculation of M. tuberculosis purified protein derivative and thereby detects M. tuberculosis-infected and -noninfected persons. The TST triggers a classical T cell-mediated delayed-type hypersensitivity reaction against mycobacterial antigens. About 20% of individuals living in areas hyperendemic for tuberculosis show persistent absence of TST reactivity, suggesting T cell-independent resistance to M. tuberculosis infection. Genetic epidemiologic studies in endemic areas have suggested that host genetic factors contribute to resistance to M. tuberculosis infection and to the immune reactions underlying TST reactivity (summary by Cobat et al., 2009).|OMIM|N|
C3150893|The tuberculin skin test (TST), or Mantoux test, measures induration of the skin after intradermal inoculation of M. tuberculosis purified protein derivative and thereby detects M. tuberculosis-infected and -noninfected persons. The TST triggers a classical T cell-mediated delayed-type hypersensitivity reaction against mycobacterial antigens. About 20% of individuals living in areas hyperendemic for tuberculosis show persistent absence of TST reactivity, suggesting T cell-independent resistance to M. tuberculosis infection. Genetic epidemiologic studies in endemic areas have suggested that host genetic factors contribute to resistance to M. tuberculosis infection and to the immune reactions underlying TST reactivity (summary by Cobat et al., 2009).|OMIM|N|
C3150894|19p13.13 deletion syndrome is a condition that results from a chromosomal change in which a small piece of chromosome 19 is deleted in each cell. The deletion occurs on the short (p) arm of the chromosome at a position designated p13.13.\n\nFeatures commonly associated with this chromosomal change include an unusually large head size (macrocephaly), tall stature, and intellectual disability that is usually moderate in severity. Many affected individuals have significantly delayed development, including speech, and children may speak few or no words. Weak muscle tone (hypotonia) and problems with coordinating muscle movement (ataxia) contribute to delays in gross motor skills (such as sitting and walking) and fine motor skills (such as holding a pencil).\n\nOther signs and symptoms that can occur with 19p13.13 deletion syndrome include seizures, abnormalities of brain structure, and mild differences in facial features (such as a prominent forehead). Many affected individuals have problems with feeding and digestion, including constipation, diarrhea, vomiting, and abdominal pain. Eye problems that can impair vision are also common. These include eyes that do not point in the same direction (strabismus) and underdevelopment of the optic nerves, which carry visual information from the eyes to the brain.\n\nThe signs and symptoms of 19p13.13 deletion syndrome vary among affected individuals. In part, this variation occurs because the size of the deletion, and the number of genes it affects, varies from person to person.|MedlinePlus Genetics|N|
C3150896|Hereditary sensory and autonomic neuropathy type IC (HSAN1C) is an autosomal dominant neurologic disorder characterized by sensory neuropathy with variable autonomic and motor involvement. Most patients have adult onset of slowly progressive distal sensory impairment manifest as numbness, tingling, or pain, as well as distal muscle atrophy. Complications include ulceration and osteomyelitis. Some patients may have a more severe phenotype with onset in childhood. Electrophysiologic studies show a predominantly axonal neuropathy with some demyelinating features. Some patients may have evidence of central nervous system involvement, including macular telangiectasia type 2 and/or pyramidal signs. Affected individuals have increased levels of plasma 1-deoxysphingolipids (1-deoxySLs), which are thought to be neurotoxic. (summary by Rotthier et al., 2010, Gantner et al., 2019, and Triplett et al., 2019). Oral supplementation with serine decreases 1-deoxySL and may offer some clinical benefits (Fridman et al., 2019).
For a discussion of genetic heterogeneity of HSAN, see HSAN1A (162400).|OMIM|N|
C3150897|An extremely rare subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by a CMT neuropathy associated with developmental delay, self-abusive behavior, dysmorphic features and vestibular Schwannoma. Motor nerve conduction velocities demonstrate features of both demyelinating and axonal pathology.|ORDO|N|
C3150898|Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the SDHA gene.|MONDO|N|
C3150899|Parkinson's disease is a progressive disorder of the nervous system. The disorder affects several regions of the brain, especially an area called the substantia nigra that controls balance and movement.\n\nOften the first symptom of Parkinson's disease is trembling or shaking (tremor) of a limb, especially when the body is at rest. Typically, the tremor begins on one side of the body, usually in one hand. Tremors can also affect the arms, legs, feet, and face. Other characteristic symptoms of Parkinson's disease include rigidity or stiffness of the limbs and torso, slow movement (bradykinesia) or an inability to move (akinesia), and impaired balance and coordination (postural instability). These symptoms worsen slowly over time.\n\nParkinson's disease can also affect emotions and thinking ability (cognition). Some affected individuals develop psychiatric conditions such as depression and visual hallucinations. People with Parkinson's disease also have an increased risk of developing dementia, which is a decline in intellectual functions including judgment and memory.\n\nGenerally, Parkinson's disease that begins after age 50 is called late-onset disease. The condition is described as early-onset disease if signs and symptoms begin before age 50. Early-onset cases that begin before age 20 are sometimes referred to as juvenile-onset Parkinson's disease.|MedlinePlus Genetics|N|
C3150901|Spastic paraplegia-48 (SPG48) is an autosomal recessive neurologic disorder characterized by spasticity of the lower limbs resulting in gait difficulties. Most patients have onset in mid- or late-adulthood, although childhood onset has been reported in 1 patient. Additional features may include parkinsonism, urinary incontinence, neuropathy, and mild cognitive impairment (summary by Hirst et al., 2015).
For a discussion of genetic heterogeneity of autosomal recessive SPG, see SPG5A (270800).|OMIM|N|
C3150902|C1q deficiency (C1QD) is a rare autosomal recessive disorder characterized by recurrent skin lesions, chronic infections, and an increased risk of autoimmune diseases, particularly systemic lupus erythematosus (SLE; see 152700) or SLE-like diseases. It has also been associated with chronic glomerulonephritis and renal failure. C1q deficiency presents in 2 different forms, absent C1q protein or presence of a dysfunctional molecule (summary by Topaloglu et al., 1996 and Vassallo et al., 2007).
Genetic Heterogeneity of C1q Deficiency
See also C1q deficiency-2 (C1QD2; 620321), caused by mutation in the C1QB gene (120570), and C1q deficiency-3 (C1QD3; 620322), caused by mutation in the C1QC gene (120575).|OMIM|N|
C3150908|Any migraine disorder in which the cause of the disease is a mutation in the KCNK18 gene.|MONDO|N|
C3150909|2-hydroxyglutaric aciduria is a condition that causes progressive damage to the brain. The major types of this disorder are called D-2-hydroxyglutaric aciduria (D-2-HGA), L-2-hydroxyglutaric aciduria (L-2-HGA), and combined D,L-2-hydroxyglutaric aciduria (D,L-2-HGA).\n\nThe main features of D-2-HGA are delayed development, seizures, weak muscle tone (hypotonia), and abnormalities in the largest part of the brain (the cerebrum), which controls many important functions such as muscle movement, speech, vision, thinking, emotion, and memory. Researchers have described two subtypes of D-2-HGA, type I and type II. The two subtypes are distinguished by their genetic cause and pattern of inheritance, although they also have some differences in signs and symptoms. Type II tends to begin earlier and often causes more severe health problems than type I. Type II may also be associated with a weakened and enlarged heart (cardiomyopathy), a feature that is typically not found with type I.\n\nL-2-HGA particularly affects a region of the brain called the cerebellum, which is involved in coordinating movements. As a result, many affected individuals have problems with balance and muscle coordination (ataxia). Additional features of L-2-HGA can include delayed development, seizures, speech difficulties, and an unusually large head (macrocephaly). Typically, signs and symptoms of this disorder begin during infancy or early childhood. The disorder worsens over time, usually leading to severe disability by early adulthood.\n\nCombined D,L-2-HGA causes severe brain abnormalities that become apparent in early infancy. Affected infants have severe seizures, weak muscle tone (hypotonia), and breathing and feeding problems. They usually survive only into infancy or early childhood.|MedlinePlus Genetics|N|
C3150910|An inherited disorder with characteristics of widespread calcifications of the basal ganglia and cortex, developmental delay, small stature, retinopathy and microcephaly. The absence of progressive deterioration of the neurological functions is characteristic of the disease. The syndrome has been described in eight children from two interrelated families. The disorder is associated with a genetic locus on chromosome 2 and transmission is autosomal recessive.|SNOMEDCT_US|N|
C3150912|Cone-rod dystrophy-15 (CORD15) is characterized by onset of reduced vision in the third to fifth decades of life. Visual acuity progressively worsens, and most patients exhibit reduced color vision and central scotomas (Cohen et al., 2012; Sobolewska et al., 2023). Retinitis pigmentosa-65 (RP65) is an adult-onset form of RP, with night blindness developing in the second to fourth decades of life. In addition to constriction of visual fields, patients may experience photophobia, reduced visual acuity, and difficulties with color vision (Henderson et al., 2010; Bessette et al., 2018; Dawood et al., 2021). Retinal macular dystrophy-5 (MCDR5) is a late-onset form of macular dystrophy, with most patients noting symptoms in the fourth to sixth decades of life. Symptoms include reduced visual acuity, glare, poor contrast vision, and metamorphopsia; night blindness is uncommon (Stingl et al., 2017; Charbel Issa et al., 2019; Ba-Abbad et al., 2021). Macular atrophy is a characteristic feature in all patients, and early involvement may be observed even in patients with RP who exhibit relatively preserved visual acuity (Malechka et al., 2022).
For a general phenotypic description and a discussion of genetic heterogeneity of cone-rod dystrophy, see 120970; for retinitis pigmentosa, see 268000; for retinal macular dystrophy, see 136550.
Reviews
Bessette et al. (2018) reviewed published reports of patients with disease-causing mutations in the CDHR1 gene. The median age of patients was 36 years, and the majority retained visual acuity of 20/70 or better in at least one eye. Most patients developed symptoms between the first and third decades of life (range, infancy through fourth decade). Night blindness was the most common presenting symptom (54%), followed by photosensitivity (39%) and decreased vision (31%). Macular atrophy was the most common fundus feature reported (96%), followed by vascular attenuation (69%) and peripheral bone spicules (54%). The authors noted significant inter- and intrafamilial phenotypic variability among patients with CDHR1 mutations.|OMIM|N|
C3150913|A form of congenital disorders of N-linked glycosylation with characteristics of facial dysmorphism (microcephaly, high forehead, low posterior hairline, strabismus), hypotonia, failure to thrive, intractable seizures, developmental delay, persistent vomiting and gastric bleeding. Additional features that may be observed include fat pads anomalies, inverted nipples, and body temperature oscillation. The disease is caused by mutations in the gene ALG11 (13q14.3).|SNOMEDCT_US|N|
C3150914|POLG-related disorders comprise a continuum of overlapping phenotypes that were clinically defined long before their molecular basis was known. Most affected individuals have some, but not all, of the features of a given phenotype; nonetheless, the following nomenclature can assist the clinician in diagnosis and management. Onset of the POLG-related disorders ranges from infancy to late adulthood. Alpers-Huttenlocher syndrome (AHS), one of the most severe phenotypes, is characterized by childhood-onset progressive and ultimately severe encephalopathy with intractable epilepsy and hepatic failure. Childhood myocerebrohepatopathy spectrum (MCHS) presents between the first few months of life and about age three years with developmental delay or dementia, lactic acidosis, and a myopathy with failure to thrive. Other findings can include liver failure, renal tubular acidosis, pancreatitis, cyclic vomiting, and hearing loss. Myoclonic epilepsy myopathy sensory ataxia (MEMSA) now describes the spectrum of disorders with epilepsy, myopathy, and ataxia without ophthalmoplegia. MEMSA now includes the disorders previously described as spinocerebellar ataxia with epilepsy (SCAE). The ataxia neuropathy spectrum (ANS) includes the phenotypes previously referred to as mitochondrial recessive ataxia syndrome (MIRAS) and sensory ataxia neuropathy dysarthria and ophthalmoplegia (SANDO). About 90% of persons in the ANS have ataxia and neuropathy as core features. Approximately two thirds develop seizures and almost one half develop ophthalmoplegia; clinical myopathy is rare. Autosomal recessive progressive external ophthalmoplegia (arPEO) is characterized by progressive weakness of the extraocular eye muscles resulting in ptosis and ophthalmoparesis (or paresis of the extraocular muscles) without associated systemic involvement; however, caution is advised because many individuals with apparently isolated arPEO at the onset develop other manifestations of POLG-related disorders over years or decades. Of note, in the ANS spectrum the neuropathy commonly precedes the onset of PEO by years to decades. Autosomal dominant progressive external ophthalmoplegia (adPEO) typically includes a generalized myopathy and often variable degrees of sensorineural hearing loss, axonal neuropathy, ataxia, depression, parkinsonism, hypogonadism, and cataracts (in what has been called "chronic progressive external ophthalmoplegia plus," or "CPEO+").|GeneReviews|N|
C3150921|Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly is a rare, central nervous system malformation syndrome characterized by progressive microcephaly with profound motor delay and intellectual disability, associated with hypertonia, spasticity, clonus, and seizures, with brain imaging revealing severe cerebral and cerebellar atrophy, and poor myelination.|ORDO|N|
C3150924|A rare genetic multiple congenital anomalies/dysmorphic syndrome with the association of severe intellectual disability, strabismus and anterior maxillary protrusion with vertical maxillary excess, open bite and prominent crowded teeth. Mild cochlear hearing loss has been reported in addition.|SNOMEDCT_US|N|
C3150925|A rare genetic autosomal recessive spastic ataxia disease with characteristics of the onset in early childhood of spastic paraparesis, cerebellar ataxia, dysarthria and optic atrophy. Caused by homozygous mutation in the MTPAP gene on chromosome 10p11.|SNOMEDCT_US|N|
C3150926|Congenital dyserythropoietic anemia type IV (CDAN4) is an autosomal dominant red blood cell disorder characterized by ineffective erythropoiesis and hemolysis resulting in anemia. Circulating erythroblasts and erythroblasts in the bone marrow show various morphologic abnormalities. Affected individuals with CDAN4 also have increased levels of fetal hemoglobin (summary by Arnaud et al., 2010).
For a discussion of genetic heterogeneity of congenital dyserythropoietic anemia, see CDAN1 (224120).|OMIM|N|
C3150927|Any vesicoureteral reflux in which the cause of the disease is a mutation in the SOX17 gene.|MONDO|N|
C3150931|An exaggeration of the normal arched form of the acetabular roof such that it takes on a steep appearance.|HPO|N|
C3150939|THOC6 intellectual disability syndrome is associated with moderate-to-severe developmental delay or intellectual disability; nonspecific dysmorphic facial features (tall forehead, deep-set eyes, short and upslanted palpebral fissures, epicanthal folds, and long nose with low-hanging columella); microcephaly (typically 2-3 SD below the mean); teeth anomalies (dental caries, malocclusion, and supernumerary teeth); cardiac anomalies (most typically atrial and/or ventricular septal defects); prenatal ventriculomegaly and hydrocephalus; cryptorchidism in males; and renal malformations (most commonly unilateral renal agenesis). More rarely, affected individuals may have hypergonadotropic hypogonadism (in females), seizures, poor growth, feeding difficulties, hearing loss, refractive errors and/or other eye abnormalities, vertebral anomalies, micro/retrognathia, and imperforate / anteriorly placed anus.|GeneReviews|N|
C3150940|A rare, genetic, chromosomal anomaly syndrome resulting from partial duplication of the long arm of chromosome 2 characterized by congenital pendular nystagmus associated with bilateral cutaneous syndactyly between the third and fourth fingers.|ORDO|N|
C3150941|Rubinstein-Taybi syndrome (RSTS) is characterized by distinctive facial features, broad and often angulated thumbs and halluces, short stature, and moderate-to-severe intellectual disability. The characteristic craniofacial features are downslanted palpebral fissures, low-hanging columella, high palate, grimacing smile, and talon cusps. Prenatal growth is often normal, then height, weight, and head circumference percentiles rapidly drop in the first few months of life. Short stature is typical in adulthood. Obesity may develop in childhood or adolescence. Average IQ ranges between 35 and 50; however, developmental outcome varies considerably. Some individuals with EP300-RSTS have normal intellect. Additional features include ocular abnormalities, hearing loss, respiratory difficulties, congenital heart defects, renal abnormalities, cryptorchidism, feeding problems, recurrent infections, and severe constipation.|GeneReviews|N|
C3150942|Spondylocostal dysostosis (SCDO), defined radiographically as multiple segmentation defects of the vertebrae (M-SDV) in combination with abnormalities of the ribs, is characterized clinically by: a short trunk in proportion to height; short neck; non-progressive mild scoliosis in most affected individuals, and occasionally, more significant scoliosis. Respiratory function in neonates may be compromised by reduced size of the thorax. By age two years lung growth may improve sufficiently to support relatively normal growth and development; however, even then life-threatening complications can occur, especially pulmonary hypertension in children with severely restricted lung capacity from birth. Males with SCDO appear to be at increased risk for inguinal hernia.|GeneReviews|N|
C3150943|Long QT syndrome (LQTS) is a cardiac electrophysiologic disorder, characterized by QT prolongation and T-wave abnormalities on the EKG that are associated with tachyarrhythmias, typically the ventricular tachycardia torsade de pointes (TdP). TdP is usually self-terminating, thus causing a syncopal event, the most common symptom in individuals with LQTS. Such cardiac events typically occur during exercise and emotional stress, less frequently during sleep, and usually without warning. In some instances, TdP degenerates to ventricular fibrillation and causes aborted cardiac arrest (if the individual is defibrillated) or sudden death. Approximately 50% of untreated individuals with a pathogenic variant in one of the genes associated with LQTS have symptoms, usually one to a few syncopal events. While cardiac events may occur from infancy through middle age, they are most common from the preteen years through the 20s. Some types of LQTS are associated with a phenotype extending beyond cardiac arrhythmia. In addition to the prolonged QT interval, associations include muscle weakness and facial dysmorphism in Andersen-Tawil syndrome (LQTS type 7); hand/foot, facial, and neurodevelopmental features in Timothy syndrome (LQTS type 8); and profound sensorineural hearing loss in Jervell and Lange-Nielson syndrome.|GeneReviews|N|
C3150946|A syndromic limb malformation characterized by congenital onychodystrophy/anonychia, brachydactyly of the fifth finger, digitalization of the thumbs, with absence or hypoplasia of the distal phalanges of the hands and feet in association with juvenile hypertrophy of the breast with gigantomastia in peripubertal females.|SNOMEDCT_US|N|
C3150953|Long QT syndrome (LQTS) is a cardiac electrophysiologic disorder, characterized by QT prolongation and T-wave abnormalities on the EKG that are associated with tachyarrhythmias, typically the ventricular tachycardia torsade de pointes (TdP). TdP is usually self-terminating, thus causing a syncopal event, the most common symptom in individuals with LQTS. Such cardiac events typically occur during exercise and emotional stress, less frequently during sleep, and usually without warning. In some instances, TdP degenerates to ventricular fibrillation and causes aborted cardiac arrest (if the individual is defibrillated) or sudden death. Approximately 50% of untreated individuals with a pathogenic variant in one of the genes associated with LQTS have symptoms, usually one to a few syncopal events. While cardiac events may occur from infancy through middle age, they are most common from the preteen years through the 20s. Some types of LQTS are associated with a phenotype extending beyond cardiac arrhythmia. In addition to the prolonged QT interval, associations include muscle weakness and facial dysmorphism in Andersen-Tawil syndrome (LQTS type 7); hand/foot, facial, and neurodevelopmental features in Timothy syndrome (LQTS type 8); and profound sensorineural hearing loss in Jervell and Lange-Nielson syndrome.|GeneReviews|N|
C3150958|Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the PSEN2 gene.|MONDO|N|
C3150967|Klippel-Feil syndrome (KFS) is a congenital anomaly characterized by a defect in the formation or segmentation of the cervical vertebrae, resulting in a fused appearance. The clinical triad consists of short neck, low posterior hairline, and limited neck movement, although less than 50% of patients demonstrate all 3 clinical features (Tracy et al., 2004).
For a general description and a discussion of genetic heterogeneity of Klippel-Feil syndrome, see KFS1 (118100).|OMIM|N|
C3150969|Ye et al. (2010) reported 2 patients with isolated unilateral microphthalmia and mutation in the GDF3 gene.|OMIM|N|
C3150970|Noonan syndrome (NS) is characterized by characteristic facies, short stature, congenital heart defect, and developmental delay of variable degree. Other findings can include broad or webbed neck, unusual chest shape with superior pectus carinatum and inferior pectus excavatum, cryptorchidism, varied coagulation defects, lymphatic dysplasias, and ocular abnormalities. Although birth length is usually normal, final adult height approaches the lower limit of normal. Congenital heart disease occurs in 50%-80% of individuals. Pulmonary valve stenosis, often with dysplasia, is the most common heart defect and is found in 20%-50% of individuals. Hypertrophic cardiomyopathy, found in 20%-30% of individuals, may be present at birth or develop in infancy or childhood. Other structural defects include atrial and ventricular septal defects, branch pulmonary artery stenosis, and tetralogy of Fallot. Up to one fourth of affected individuals have mild intellectual disability, and language impairments in general are more common in NS than in the general population.|GeneReviews|N|
C3150971|Noonan syndrome with multiple lentigines (NSML) is a condition in which the cardinal features consist of lentigines, hypertrophic cardiomyopathy, short stature, pectus deformity, and dysmorphic facial features including widely spaced eyes and ptosis. Multiple lentigines present as dispersed flat, black-brown macules, mostly on the face, neck, and upper part of the trunk with sparing of the mucosa. In general, lentigines do not appear until age four to five years but then increase to the thousands by puberty. Some individuals with NSML do not exhibit lentigines. Approximately 85% of affected individuals have heart defects, including hypertrophic cardiomyopathy (typically appearing during infancy and sometimes progressive) and pulmonary valve stenosis. Postnatal growth restriction resulting in short stature occurs in fewer than 50% of affected persons, although most affected individuals have a height that is less than the 25th centile for age. Sensorineural hearing deficits, present in approximately 20% of affected individuals, are poorly characterized. Intellectual disability, typically mild, is observed in approximately 30% of persons with NSML.|GeneReviews|N|
C3150972|Spastic paraplegia 3A (SPG3A; also known as ATL1-HSP) is characterized by progressive bilateral and mostly symmetric spasticity and weakness of the legs. Compared to other forms of autosomal dominant hereditary spastic paraplegia (HSP), in which diminished vibration sense (caused by degeneration of the corticospinal tracts and dorsal columns) and urinary bladder hyperactivity are present in all affected individuals, these findings occur in a minority of individuals with SPG3A. The average age of onset is four years. More than 80% of reported individuals manifest spastic gait before the end of the first decade of life. Most persons with early-onset ATL1-HSP have a "pure" ("uncomplicated") HSP; however, complicated HSP with axonal motor neuropathy and/or distal amyotrophy with lower motor neuron involvement (Silver syndrome phenotype) has been observed. The rate of progression in ATL1-HSP is slow, and wheelchair dependency or need for a walking aid (cane, walker, or wheelchair) is relatively rare.|GeneReviews|N|
C3150973|Thiamine metabolism dysfunction syndrome-4 (THMD4) is an autosomal recessive metabolic disorder characterized by childhood onset of episodic encephalopathy, often associated with a febrile illness, and causing transient neurologic dysfunction. Most patients recover fully, but some may have mild residual weakness. Affected individuals also develop a slowly progressive axonal polyneuropathy beginning in childhood. Brain imaging during the acute episodes shows lesions consistent with bilateral striatal degeneration or necrosis (summary by Spiegel et al., 2009).
For a discussion of genetic heterogeneity of disorders due to thiamine metabolism dysfunction, see THMD1 (249270).|OMIM|N|
C3150974|The disorder described by Hirschsprung (1888) and known as Hirschsprung disease or aganglionic megacolon is characterized by congenital absence of intrinsic ganglion cells in the myenteric (Auerbach) and submucosal (Meissner) plexuses of the gastrointestinal tract. Patients are diagnosed with the short-segment form (S-HSCR, approximately 80% of cases) when the aganglionic segment does not extend beyond the upper sigmoid, and with the long-segment form (L-HSCR) when aganglionosis extends proximal to the sigmoid. Total colonic aganglionosis and total intestinal HSCR also occur (Amiel et al., 2008).
Isolated HSCR appears to be of complex nonmendelian inheritance with low sex-dependent penetrance and variable expression according to the length of the aganglionic segment, suggestive of the involvement of one or more genes with low penetrance (Amiel et al., 2008).
Hofstra et al. (1997) discussed the possible role of GDNF in the pathogenesis of Hirschsprung disease.
For a discussion of genetic heterogeneity of susceptibility to Hirschsprung disease, see 142623.|OMIM|N|
C3150975|The disorder described by Hirschsprung (1888) and known as Hirschsprung disease or aganglionic megacolon is characterized by congenital absence of intrinsic ganglion cells in the myenteric (Auerbach) and submucosal (Meissner) plexuses of the gastrointestinal tract. Patients are diagnosed with the short-segment form (S-HSCR, approximately 80% of cases) when the aganglionic segment does not extend beyond the upper sigmoid, and with the long-segment form (L-HSCR) when aganglionosis extends proximal to the sigmoid. Total colonic aganglionosis and total intestinal HSCR also occur (Amiel et al., 2008).
Isolated HSCR appears to be of complex nonmendelian inheritance with low sex-dependent penetrance and variable expression according to the length of the aganglionic segment, suggestive of the involvement of one or more genes with low penetrance (Amiel et al., 2008).
For a discussion of genetic heterogeneity of susceptibility to Hirschsprung disease, see 142623.|OMIM|N|
C3150983|Treacher Collins syndrome (TCS) is characterized by bilateral and symmetric downslanting palpebral fissures, malar hypoplasia, micrognathia, and external ear abnormalities. Hypoplasia of the zygomatic bones and mandible can cause significant feeding and respiratory difficulties. About 40%-50% of individuals have conductive hearing loss attributed most commonly to malformation of the ossicles and hypoplasia of the middle ear cavities. Inner ear structures tend to be normal. Other, less common abnormalities include cleft palate and unilateral or bilateral choanal stenosis or atresia. Typically intellect is normal.|GeneReviews|N|
C3150986|KCNQ2-related disorders represent a continuum of overlapping neonatal epileptic phenotypes ranging from self-limited familial neonatal epilepsy (SLFNE) at the mild end to neonatal-onset developmental and epileptic encephalopathy (NEO-DEE) at the severe end. Additional, less common phenotypes consisting of neonatal encephalopathy with non-epileptic myoclonus, infantile or childhood-onset developmental and epileptic encephalopathy (DEE), and isolated intellectual disability (ID) without epilepsy have also been described. KCNQ2-SLFNE is characterized by seizures that start in otherwise healthy infants between two and eight days after term birth and spontaneously disappear between the first and the sixth to 12th month of life. There is always a seizure-free interval between birth and the onset of seizures. Seizures are characterized by sudden onset with prominent motor involvement, often accompanied by apnea and cyanosis; video EEG identifies seizures as focal onset with tonic stiffening of limb(s) and some migration during each seizure's evolution. About 30% of individuals with KCNQ2-SLFNE develop epileptic seizures later in life. KCNQ2-NEO-DEE is characterized by multiple daily seizures beginning in the first week of life that are mostly tonic, with associated focal motor and autonomic features. Seizures generally cease between ages nine months and four years. At onset, EEG shows a burst-suppression pattern or multifocal epileptiform activity; early brain MRI can show basal ganglia hyperdensities and later MRIs may show white matter or general volume loss. Moderate-to-profound developmental impairment is present.|GeneReviews|N|
C3150987|Developmental and epileptic encephalopathy-11 (DEE11) is a neurologic disorder characterized by onset of seizures in the first days, weeks, or months of life. Some patients may have later onset. Seizures comprise multiple types, including tonic, generalized, and myoclonic, and tend to be refractory to medication. However, some patients with onset of seizures before 3 months of age may respond to sodium channel blockers, particularly phenytoin. About half of patients become seizure-free in childhood. Affected individuals have global developmental delay, usually with severely impaired intellectual development, although some may be less severely affected and show autism spectrum disorder. Additional common features include microcephaly, hypotonia, and abnormal movements, such as dystonia, dyskinesias, and choreoathetotic movements. Brain imaging may show white matter defects. The phenotype is highly variable, even in patients with the same mutation (summary by Ogiwara et al., 2009; Howell et al., 2015; Wolff et al., 2017).
For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350.|OMIM|N|
C3150988|Developmental and epileptic encephalopathy-12 (DEE12) is an autosomal recessive neurologic disorder characterized by onset of refractory seizures in the first year of life. Affected infants may have normal or mildly delayed development before the onset of seizures, but thereafter show severe developmental regression and stagnation. Seizure types vary: focal seizures, infantile spasms, and generalized tonic-clonic seizures may occur, even within the same patient. EEG may show hypsarrhythmia, consistent with West syndrome, or a pattern consistent with 'malignant migrating partial seizures in infancy' (MMPSI). Patients have little or no developmental progress: there is absent speech, hypotonia, poor motor skills, peripheral spasticity, and impaired visual fixation (summary by Kurian et al., 2010 and Poduri et al., 2012).
For a general phenotypic description and a discussion of genetic heterogeneity of developmental and epileptic encephalopathy, see 308350.|OMIM|N|
C3150989|Autosomal recessive limb-girdle muscular dystrophy-17 (LGMDR17) is characterized by early childhood onset of proximal muscle weakness and atrophy without skin involvement. One family has shown rapid progression of the disorder in adolescence (summary by Gundesli et al., 2010).
For a discussion of genetic heterogeneity of autosomal recessive limb-girdle muscular dystrophy, see LGMDR1 (253600).|OMIM|N|
C3150990|Leukoencephalopathy-dystonia-motor neuropathy syndrome is a peroxisomal neurodegenerative disorder characterized by spasmodic torticollis, dystonic head tremor, intention tremor, nystagmus, hyposmia, and hypergonadotrophic hypogonadism with azoospermia. Slight cerebellar signs (left-sided intention tremor, balance and gait impairment) are also noted. Magnetic resonance imaging (MRI) shows bilateral hyperintense signals in the thalamus, butterfly-like lesions in the pons, and lesions in the occipital region, whereas nerve conduction studies of the lower extremities shows a predominantly motor and slight sensory neuropathy.|ORDO|N|
C3150998|Autosomal recessive spinocerebellar ataxia-10 is an autosomal recessive neurodegenerative disorder with onset in the teenage or young adult years of gait and limb ataxia, dysarthria, and nystagmus associated with marked cerebellar atrophy on brain imaging (summary by Vermeer et al., 2010). Some patients have low levels of coenzyme Q10 (CoQ10) in muscle and may show some clinical improvement with CoQ10 treatment (Balreira et al., 2014).|OMIM|N|
C3150999|Hemizygous 1.2-Mb deletion of the distal region of chromosome 7q11.23 is associated with increased risk for epilepsy, learning difficulties, intellectual disabilities, and/or neurobehavioral abnormalities (Ramocki et al., 2010).|OMIM|N|
C3151000|HDBSCC is an autosomal recessive disorder with a distinctive phenotype comprising hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts. Affected individuals have a catastrophic neurologic clinical course resulting in death in infancy (summary by Akawi et al., 2013).|OMIM|N|
C3151001|Any retinitis pigmentosa in which the cause of the disease is a mutation in the RHO gene.|MONDO|N|
C3151037|Acne inversa is a chronic inflammatory disease of the hair follicles whose characteristic features include draining sinuses, painful skin abscesses, and disfiguring scars. Manifestations typically appear after puberty. Familial acne inversa is genetically heterogeneous (summary by Wang et al., 2010). Some patients with PSENEN-associated acne inversa also exhibit reticulate hyperpigmentation consistent with Dowling-Degos disease (DDD; see 179850) (Zhou et al., 2016).
For a general phenotypic description and a discussion of genetic heterogeneity of acne inversa, see 142690.|OMIM|N|
C3151038|Acne inversa, also known as hidradenitis suppurativa, is a chronic inflammatory disease of the hair follicles whose characteristic features include draining sinuses, painful skin abscesses, and disfiguring scars. Manifestations typically appear after puberty. Familial acne inversa is genetically heterogeneous (summary by Wang et al., 2010).
For a general phenotypic description and a discussion of genetic heterogeneity of familial acne inversa, see 142690.|OMIM|N|
C3151055|P450scc deficiency is a rare disorder that can present as acute adrenal insufficiency in infancy or childhood. ACTH and plasma renin activity are grossly elevated and adrenal steroids are inappropriately low or absent; the 46,XY patients have female external genitalia, sometimes with clitoromegaly. The phenotypic spectrum ranges from prematurity, complete underandrogenization, and severe early-onset adrenal failure to term birth with clitoromegaly and later-onset adrenal failure (summary by Kim et al., 2008).
Although hormonal and phenotypic features can resemble those of congenital lipoid adrenal hyperplasia (lipoid CAH; 201710), no patient with P450scc deficiency has been described with the massive adrenal enlargement typical of lipoid CAH (summary by Sahakitrungruang et al., 2011).|OMIM|N|
C3151056|AP-4-associated hereditary spastic paraplegia (HSP), also known as AP-4 deficiency syndrome, is a group of neurodegenerative disorders characterized by a progressive, complex spastic paraplegia with onset typically in infancy or early childhood. Early-onset hypotonia evolves into progressive lower-extremity spasticity. The majority of children become nonambulatory and usually wheelchair bound. Over time spasticity progresses to involve the upper extremities, resulting in a spastic tetraplegia. Associated complications include dysphagia, contractures, foot deformities, dysregulation of bladder and bowel function, and a pseudobulbar affect. About 50% of affected individuals have seizures. Postnatal microcephaly (usually in the -2SD to -3SD range) is common. All have developmental delay. Speech development is significantly impaired and many affected individuals remain nonverbal. Intellectual disability in older children is usually moderate to severe.|GeneReviews|N|
C3151057|Heterotaxy ('heter' meaning 'other' and 'taxy' meaning 'arrangement'), or situs ambiguus, is a developmental condition characterized by randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another (Srivastava, 1997). Heterotaxy is a clinically and genetically heterogeneous disorder.
For a discussion of the genetic heterogeneity of visceral heterotaxy, see HTX1 (306955).|OMIM|N|
C3151058|Hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency is an autosomal recessive severe neurometabolic disorder affecting the muscles, liver, and nervous system, resulting in death in infancy (summary by Bas et al., 2020).
Other causes of hypermethioninemia include hereditary tyrosinemia (276700), cystathionine beta-synthase deficiency (236200), and methionine adenosyltransferase deficiency (250850).|OMIM|N|
C3151059|Retinitis pigmentosa-49 (RP49) is characterized by onset of night blindness in childhood, followed by progressive loss of visual fields and reduced visual acuity. Typical fundus features are present, including pale optic disc, attenuated vasculature, and pigment deposits in the midperiphery (Zhang et al., 2004; Katagiri et al., 2014).
For a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000.|OMIM|N|
C3151060|Researchers have described two major types of age-related macular degeneration, known as the dry form and the wet form. The dry form is much more common, accounting for 85 to 90 percent of all cases of age-related macular degeneration. It is characterized by a buildup of yellowish deposits called drusen beneath the retina and vision loss that worsens slowly over time. The most advanced stage of dry age-related macular degeneration is known as geographic atrophy, in which areas of the macula waste away (atrophy), resulting in severe vision loss. Dry age-related macular degeneration typically affects vision in both eyes, although vision loss often occurs in one eye before the other.\n\nIn 10 to 15 percent of affected individuals, the dry form progresses to the wet form of age-related macular degeneration. The wet form is characterized by the growth of abnormal, fragile blood vessels underneath the macula. These vessels leak blood and fluid, which damages the macula and makes central vision appear blurry and distorted. The wet form of age-related macular degeneration is associated with severe vision loss that can worsen rapidly.\n\nAge-related macular degeneration mainly affects central vision, which is needed for detailed tasks such as reading, driving, and recognizing faces. The vision loss in this condition results from a gradual deterioration of light-sensing cells in the tissue at the back of the eye that detects light and color (the retina). Specifically, age-related macular degeneration affects a small area near the center of the retina, called the macula, which is responsible for central vision. Side (peripheral) vision and night vision are generally not affected, but slow adjustment of vision to darkness (dark adaptation) and reduced dim light (scotopic) vision often occur in the early stages of the disease.\n\nAge-related macular degeneration is an eye disease that is a leading cause of vision loss in older people in developed countries. Subtle abnormalities indicating changes in vision may occur in a person's forties or fifties. Distorted vision and vision loss usually become noticeable in a person's sixties or seventies and tend to worsen over time.|MedlinePlus Genetics|N|
C3151061|Retinitis pigmentosa-47 (RP47) is characterized by relatively late-onset visual decline, although most patients experience night blindness in childhood. A characteristic golden sheen, considered to be pathognomonic for Oguchi disease (258100), may be observed in the periphery on ultra-widefield fundus images (Nishiguchi et al., 2019).
For a phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000.|OMIM|N|
C3151062|Immunodeficiency-90 with encephalopathy, functional hyposplenia, and hepatic dysfunction (IMD90) is a autosomal recessive complex immunologic disorder with systemic manifestations in addition to primary immunodeficiency. Affected individuals usually present in infancy or early childhood with recurrent fevers and bacterial or viral infections associated with central nervous system symptoms, including irritability, drowsiness, variable seizures, and white matter abnormalities on brain imaging. There is also liver involvement and functional hyposplenism, causing increased susceptibility to invasive pneumococcal infection, which may be fatal. Susceptibility to viral infections likely results from impaired interferon immunity, and bacterial infections likely result from splenic dysfunction. A subset of patients have congenital cardiac malformations. Most individuals demonstrate developmental delay and speech delay. Laboratory findings in affected individuals are similar to those seen in autoimmune lymphoproliferative syndrome (ALPS; 601859), including high-circulating CD4-/CD8-/TCR-alpha-beta+ (double-negative) T-cell (DNT) counts, and elevated IL10 (124092) and FASL (TNFSF6; 134638) levels, but the clinical features are somewhat different from ALPS: massive lymphadenopathy and autoimmune features are not observed in IMD90 (summary by Bolze et al., 2010, Savic et al., 2015 and Kohn et al., 2020).|OMIM|N|
C3151063|Age-related macular degeneration is an eye disease that is a leading cause of vision loss in older people in developed countries. Subtle abnormalities indicating changes in vision may occur in a person's forties or fifties. Distorted vision and vision loss usually become noticeable in a person's sixties or seventies and tend to worsen over time.\n\nAge-related macular degeneration mainly affects central vision, which is needed for detailed tasks such as reading, driving, and recognizing faces. The vision loss in this condition results from a gradual deterioration of light-sensing cells in the tissue at the back of the eye that detects light and color (the retina). Specifically, age-related macular degeneration affects a small area near the center of the retina, called the macula, which is responsible for central vision. Side (peripheral) vision and night vision are generally not affected, but slow adjustment of vision to darkness (dark adaptation) and reduced dim light (scotopic) vision often occur in the early stages of the disease.\n\nIn 10 to 15 percent of affected individuals, the dry form progresses to the wet form of age-related macular degeneration. The wet form is characterized by the growth of abnormal, fragile blood vessels underneath the macula. These vessels leak blood and fluid, which damages the macula and makes central vision appear blurry and distorted. The wet form of age-related macular degeneration is associated with severe vision loss that can worsen rapidly.\n\nResearchers have described two major types of age-related macular degeneration, known as the dry form and the wet form. The dry form is much more common, accounting for 85 to 90 percent of all cases of age-related macular degeneration. It is characterized by a buildup of yellowish deposits called drusen beneath the retina and vision loss that worsens slowly over time. The most advanced stage of dry age-related macular degeneration is known as geographic atrophy, in which areas of the macula waste away (atrophy), resulting in severe vision loss. Dry age-related macular degeneration typically affects vision in both eyes, although vision loss often occurs in one eye before the other.|MedlinePlus Genetics|N|
C3151066|Any retinitis pigmentosa in which the cause of the disease is a mutation in the CNGB1 gene.|MONDO|N|
C3151068|Any retinitis pigmentosa in which the cause of the disease is a mutation in the RGR gene.|MONDO|N|
C3151070|Age-related macular degeneration (ARMD) is a common complex disorder that affects the central region of the retina (macula) and is the leading cause of legal blindness in white Americans over age 65. Contributions of environmental factors and genetic susceptibility have been identified. The strongest nongenetic risk factor for ARMD is cigarette smoking.
For a general phenotypic description and a discussion of genetic heterogeneity of ARMD, see 603075.|OMIM|N|
C3151071|C3 glomerulopathy (C3G) is a complex ultra-rare complement-mediated renal disease caused by uncontrolled activation of the complement alternative pathway (AP) in the fluid phase (as opposed to cell surface) that is rarely inherited in a simple mendelian fashion. C3G affects individuals of all ages, with a median age at diagnosis of 23 years. Individuals with C3G typically present with hematuria, proteinuria, hematuria and proteinuria, acute nephritic syndrome or nephrotic syndrome, and low levels of the complement component C3. Spontaneous remission of C3G is uncommon, and about half of affected individuals develop end-stage renal disease (ESRD) within ten years of diagnosis, occasionally developing the late comorbidity of impaired visual acuity.|GeneReviews|N|
C3151078|A rare defect resulting in C1 deficiency and impaired activation of the complement classical pathway. C1 deficiency generally leads to severe immune complex disease with features of systemic lupus erythematosus and glomerulonephritis.|MONDO|N|
C3151079|Age-related macular degeneration is an eye disease that is a leading cause of vision loss in older people in developed countries. Subtle abnormalities indicating changes in vision may occur in a person's forties or fifties. Distorted vision and vision loss usually become noticeable in a person's sixties or seventies and tend to worsen over time.\n\nAge-related macular degeneration mainly affects central vision, which is needed for detailed tasks such as reading, driving, and recognizing faces. The vision loss in this condition results from a gradual deterioration of light-sensing cells in the tissue at the back of the eye that detects light and color (the retina). Specifically, age-related macular degeneration affects a small area near the center of the retina, called the macula, which is responsible for central vision. Side (peripheral) vision and night vision are generally not affected, but slow adjustment of vision to darkness (dark adaptation) and reduced dim light (scotopic) vision often occur in the early stages of the disease.\n\nIn 10 to 15 percent of affected individuals, the dry form progresses to the wet form of age-related macular degeneration. The wet form is characterized by the growth of abnormal, fragile blood vessels underneath the macula. These vessels leak blood and fluid, which damages the macula and makes central vision appear blurry and distorted. The wet form of age-related macular degeneration is associated with severe vision loss that can worsen rapidly.\n\nResearchers have described two major types of age-related macular degeneration, known as the dry form and the wet form. The dry form is much more common, accounting for 85 to 90 percent of all cases of age-related macular degeneration. It is characterized by a buildup of yellowish deposits called drusen beneath the retina and vision loss that worsens slowly over time. The most advanced stage of dry age-related macular degeneration is known as geographic atrophy, in which areas of the macula waste away (atrophy), resulting in severe vision loss. Dry age-related macular degeneration typically affects vision in both eyes, although vision loss often occurs in one eye before the other.|MedlinePlus Genetics|N|
C3151080|Patients with deficiency of C8 suffer from recurrent neisserial infections, predominantly with meningococcus infection of rare serotypes. Most such patients are discovered among those having their first episode of meningitis at ages older than 10 years (Ross and Densen, 1984).
Two types of inherited C8 deficiency have been reported in humans: type I (613790), in which only C8 alpha (C8A, 120950) and C8 gamma (C8G; 120930) are deficient, and type II, in which only C8 beta is deficient (Marcus et al., 1982; Tedesco et al., 1983). The 2 types are clinically indistinguishable (Ross and Densen, 1984).|OMIM|N|
C3151081|Patients with deficiency of C8 suffer from recurrent neisserial infections, predominantly with meningococcus infection of rare serotypes. Most such patients are discovered among those having their first episode of meningitis at ages older than 10 years (Ross and Densen, 1984).
Two kinds of inherited C8 deficiency have been reported in humans: type I (C8D1), in which only C8 alpha and C8 gamma (C8G; 120930) are deficient, and type II (C8D2; 613789), in which only C8 beta (C8B; 120960) is deficient (Marcus et al., 1982; Tedesco et al., 1983). The 2 types are clinically indistinguishable (Ross and Densen, 1984).|OMIM|N|
C3151082|Concentration of the complement component C8 in the blood circulation below the lower limit of normal.|HPO|N|
C3151083|Recurrent infections by bacteria of the genus Neisseria, including N. meningitidis (one of the most common causes of bacterial meningitis).|HPO|N|
C3151085|MASP2 deficiency, classically defined as MASP2 protein level of less than 100 ng/ml, occurs in about 4% of Caucasians and up to 18% of some African populations. Some MASP2-deficient individuals have increased risk of infection or autoimmune disease, but most are asymptomatic. MASP2 plays a role in activation of the lectin pathway of the complement system; deficiency may thus lead to defects in the complement system (summary by Thiel et al., 2007 and Sokolowska et al., 2015).
For a discussion of genetic heterogeneity of lectin complement activation pathway defects, see LCAPD1 (614372).|OMIM|N|
C3151086|Any retinitis pigmentosa in which the cause of the disease is a mutation in the RPE65 gene.|MONDO|N|
C3151087|Loeys-Dietz syndrome (LDS) is characterized by vascular findings (cerebral, thoracic, and abdominal arterial aneurysms and/or dissections), skeletal manifestations (pectus excavatum or pectus carinatum, scoliosis, joint laxity, arachnodactyly, talipes equinovarus, cervical spine malformation and/or instability), craniofacial features (widely spaced eyes, strabismus, bifid uvula / cleft palate, and craniosynostosis that can involve any sutures), and cutaneous findings (velvety and translucent skin, easy bruising, and dystrophic scars). Individuals with LDS are predisposed to widespread and aggressive arterial aneurysms and pregnancy-related complications including uterine rupture and death. Individuals with LDS can show a strong predisposition for allergic/inflammatory disease including asthma, eczema, and reactions to food or environmental allergens. There is also an increased incidence of gastrointestinal inflammation including eosinophilic esophagitis and gastritis or inflammatory bowel disease. Wide variation in the distribution and severity of clinical features can be seen in individuals with LDS, even among affected individuals within a family who have the same pathogenic variant.|GeneReviews|N|
C3151088|Immunodeficiency-31B (IMD31B) results from autosomal recessive (AR) STAT1 deficiency. STAT1 is crucial for cellular responses to IFNA (147660)/IFNB (147640) (type I interferon) and IFNG (147570) (type III interferon). AR STAT1 deficiency affects both the IFNA/IFNB and the IFNG pathways, resulting in susceptibility to mycobacteria, Salmonella, and viruses, with a severe disease course and often fatal outcome (review by Al-Muhsen and Casanova, 2008).|OMIM|N|
C3151097|Additional features of Meier-Gorlin syndrome can include difficulty feeding and a lung condition known as pulmonary emphysema or other breathing problems.\n\nAbnormalities in sexual development may also occur in Meier-Gorlin syndrome. In some males with this condition, the testes are small or undescended (cryptorchidism). Affected females may have unusually small external genital folds (hypoplasia of the labia majora) and small breasts. Both males and females with this condition can have sparse or absent underarm (axillary) hair.\n\nMost people with Meier-Gorlin syndrome have distinctive facial features. In addition to being abnormally small, the ears may be low-set or rotated backward. Additional features can include a small mouth (microstomia), an underdeveloped lower jaw (micrognathia), full lips, and a narrow nose with a high nasal bridge.\n\nSome people with Meier-Gorlin syndrome have other skeletal abnormalities, such as unusually narrow long bones in the arms and legs, a deformity of the knee joint that allows the knee to bend backwards (genu recurvatum), and slowed mineralization of bones (delayed bone age).\n\nMeier-Gorlin syndrome is a condition primarily characterized by short stature. It is considered a form of primordial dwarfism because the growth problems begin before birth (intrauterine growth retardation). After birth, affected individuals continue to grow at a slow rate. Other characteristic features of this condition are underdeveloped or missing kneecaps (patellae), small ears, and, often, an abnormally small head (microcephaly). Despite a small head size, most people with Meier-Gorlin syndrome have normal intellect.|MedlinePlus Genetics|N|
C3151107|Any retinitis pigmentosa in which the cause of the disease is a mutation in the PDE6B gene.|MONDO|N|
C3151111|An abnormality of the combined rod-and-cone response on electroretinogram.|HPO|N|
C3151113|Meier-Gorlin syndrome is a condition primarily characterized by short stature. It is considered a form of primordial dwarfism because the growth problems begin before birth (intrauterine growth retardation). After birth, affected individuals continue to grow at a slow rate. Other characteristic features of this condition are underdeveloped or missing kneecaps (patellae), small ears, and, often, an abnormally small head (microcephaly). Despite a small head size, most people with Meier-Gorlin syndrome have normal intellect.\n\nSome people with Meier-Gorlin syndrome have other skeletal abnormalities, such as unusually narrow long bones in the arms and legs, a deformity of the knee joint that allows the knee to bend backwards (genu recurvatum), and slowed mineralization of bones (delayed bone age).\n\nMost people with Meier-Gorlin syndrome have distinctive facial features. In addition to being abnormally small, the ears may be low-set or rotated backward. Additional features can include a small mouth (microstomia), an underdeveloped lower jaw (micrognathia), full lips, and a narrow nose with a high nasal bridge.\n\nAbnormalities in sexual development may also occur in Meier-Gorlin syndrome. In some males with this condition, the testes are small or undescended (cryptorchidism). Affected females may have unusually small external genital folds (hypoplasia of the labia majora) and small breasts. Both males and females with this condition can have sparse or absent underarm (axillary) hair.\n\nAdditional features of Meier-Gorlin syndrome can include difficulty feeding and a lung condition known as pulmonary emphysema or other breathing problems.|MedlinePlus Genetics|N|
C3151120|Meier-Gorlin syndrome-4 (MGORS4) is a rare autosomal recessive disorder with the hallmarks of short stature, small external ears, and reduced or absent patellae. Breast hypoplasia is present in females (Guernsey et al., 2011).
For a general phenotypic description and a discussion of genetic heterogeneity of Meier-Gorlin syndrome, see 224690.|OMIM|N|
C3151126|Meier-Gorlin syndrome is a condition primarily characterized by short stature. It is considered a form of primordial dwarfism because the growth problems begin before birth (intrauterine growth retardation). After birth, affected individuals continue to grow at a slow rate. Other characteristic features of this condition are underdeveloped or missing kneecaps (patellae), small ears, and, often, an abnormally small head (microcephaly). Despite a small head size, most people with Meier-Gorlin syndrome have normal intellect.\n\nSome people with Meier-Gorlin syndrome have other skeletal abnormalities, such as unusually narrow long bones in the arms and legs, a deformity of the knee joint that allows the knee to bend backwards (genu recurvatum), and slowed mineralization of bones (delayed bone age).\n\nMost people with Meier-Gorlin syndrome have distinctive facial features. In addition to being abnormally small, the ears may be low-set or rotated backward. Additional features can include a small mouth (microstomia), an underdeveloped lower jaw (micrognathia), full lips, and a narrow nose with a high nasal bridge.\n\nAbnormalities in sexual development may also occur in Meier-Gorlin syndrome. In some males with this condition, the testes are small or undescended (cryptorchidism). Affected females may have unusually small external genital folds (hypoplasia of the labia majora) and small breasts. Both males and females with this condition can have sparse or absent underarm (axillary) hair.\n\nAdditional features of Meier-Gorlin syndrome can include difficulty feeding and a lung condition known as pulmonary emphysema or other breathing problems.|MedlinePlus Genetics|N|
C3151136|Primary ciliary dyskinesia-14 (CILD14) is an autosomal recessive disorder characterized by recurrent respiratory infections associated with defects in ciliary inner dynein arms and axonemal disorganization (Merveille et al., 2011).
For a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400).|OMIM|N|
C3151137|Primary ciliary dyskinesia-15 (CILD15) is an autosomal recessive disorder characterized by recurrent respiratory infections associated with defects in ciliary inner dynein arms and axonemal disorganization (summary by Becker-Heck et al., 2011).
For a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400).|OMIM|N|
C3151138|Retinitis pigmentosa-39 (RP39) is characterized by the typical features of RP, including constriction of visual fields and reduced vision, with the fundus showing bone-spicule pigment deposition and attenuation of retinal vessels (Kaiserman et al., 2007; Jung et al., 2023).
For a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa (RP), see 268000.|OMIM|N|
C3151139|Retinitis pigmentosa-43 (RP43) is characterized by night blindness in the first decade of life, with progressive loss of peripheral visual fields and reduction in visual acuity. Examination reveals typical features of RP, including waxy pallor of optic disc, attenuated retinal vessels, and bone-spicule pigment in midperipheral retina. Macular edema and/or atrophy has been observed in some patients. Electroretinographic responses are markedly reduced or absent (summary by Huang et al., 1995 and Corton et al., 2010).|OMIM|N|
C3151140|PCH2D is an autosomal recessive disorder characterized by progressive microcephaly, postnatal onset of progressive atrophy of the cerebrum and cerebellum, profound mental retardation, spasticity, and variable seizures (summary by Ben-Zeev et al., 2003).
For a general phenotypic description and a discussion of genetic heterogeneity of pontocerebellar hypoplasia type 2, see PCH2A (277470).|OMIM|N|
C3151147|Congenital bile acid synthesis defect-3 (CBAS3) is an autosomal recessive disorder characterized by prolonged jaundice after birth, hepatomegaly, conjugated hyperbilirubinemia, elevations in characteristic abnormal bile acids, and progressive intrahepatic cholestasis with liver fibrosis (summary by Setchell et al., 1998 and Ueki et al., 2008).
For a general phenotypic description and a discussion of genetic heterogeneity of congenital bile acid synthesis defects, see 607765.|OMIM|N|
C3151185|Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013). There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, 218330).
For a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 (208500).|OMIM|N|
C3151186|Classic Joubert syndrome (JS) is characterized by three primary findings: A distinctive cerebellar and brain stem malformation called the molar tooth sign (MTS). Hypotonia. Developmental delays. Often these findings are accompanied by episodic tachypnea or apnea and/or atypical eye movements. In general, the breathing abnormalities improve with age, truncal ataxia develops over time, and acquisition of gross motor milestones is delayed. Cognitive abilities are variable, ranging from severe intellectual disability to normal. Additional findings can include retinal dystrophy, renal disease, ocular colobomas, occipital encephalocele, hepatic fibrosis, polydactyly, oral hamartomas, and endocrine abnormalities. Both intra- and interfamilial variation are seen.|GeneReviews|N|
C3151187|Seckel syndrome is an autosomal recessive disorder characterized by proportionate short stature, severe microcephaly, mental retardation, and a typical 'bird-head' facial appearance (summary by Kalay et al., 2011).
For a general phenotypic description and a discussion of genetic heterogeneity of Seckel syndrome, see 210600.|OMIM|N|
C3151188|The nephronophthisis (NPH) phenotype is characterized by reduced renal concentrating ability, chronic tubulointerstitial nephritis, cystic renal disease, and progression to end-stage renal disease (ESRD) before age 30 years. Three age-based clinical subtypes are recognized: infantile, juvenile, and adolescent/adult. Infantile NPH can present in utero with oligohydramnios sequence (limb contractures, pulmonary hypoplasia, and facial dysmorphisms) or postnatally with renal manifestations that progress to ESRD before age 3 years. Juvenile NPH, the most prevalent subtype, typically presents with polydipsia and polyuria, growth retardation, chronic iron-resistant anemia, or other findings related to chronic kidney disease (CKD). Hypertension is typically absent due to salt wasting. ESRD develops at a median age of 13 years. Ultrasound findings are increased echogenicity, reduced corticomedullary differentiation, and renal cysts (in 50% of affected individuals). Histologic findings include tubulointerstitial fibrosis, thickened and disrupted tubular basement membrane, sporadic corticomedullary cysts, and normal or reduced kidney size. Adolescent/adult NPH is clinically similar to juvenile NPH, but ESRD develops at a median age of 19 years. Within a subtype, inter- and intrafamilial variability in rate of progression to ESRD is considerable. Approximately 80%-90% of individuals with the NPH phenotype have no extrarenal features (i.e., they have isolated NPH); ~10%-20% have extrarenal manifestations that constitute a recognizable syndrome (e.g., Joubert syndrome, Bardet-Biedl syndrome, Jeune syndrome and related skeletal disorders, Meckel-Gruber syndrome, Senior-Løken syndrome, Leber congenital amaurosis, COACH syndrome, and oculomotor apraxia, Cogan type).|GeneReviews|N|
C3151189|Any classic complement early component deficiency in which the cause of the disease is a mutation in the C9 gene.|MONDO|N|
C3151190|Any retinitis pigmentosa in which the cause of the disease is a mutation in the GUCA1B gene.|MONDO|N|
C3151191|Generalized epilepsy with febrile seizures-plus (GEFS+) is a familial epilepsy syndrome with extremely variable expressivity. Seizure phenotypes include classic infantile febrile seizures, febrile seizures persisting beyond age 6 years or accompanied by afebrile generalized tonic-clonic seizures (GTCS), generalized or localization-related epilepsy, and more rarely, severe seizures with encephalopathy (summary by Poduri et al., 2009).
For a discussion of genetic heterogeneity of GEFS+, see 604233.|OMIM|N|
C3151192|Leber congenital amaurosis comprises a group of early-onset childhood retinal dystrophies characterized by vision loss, nystagmus, and severe retinal dysfunction. Patients usually present at birth with profound vision loss and pendular nystagmus. Electroretinogram (ERG) responses are usually nonrecordable. Other clinical findings may include high hypermetropia, photodysphoria, oculodigital sign, keratoconus, cataracts, and a variable appearance to the fundus (summary by Chung and Traboulsi, 2009).
For a general description and a discussion of genetic heterogeneity of LCA, see 204000.|OMIM|N|
C3151193|CSNB1D is an autosomal recessive form of congenital stationary night blindness that is characterized by a Riggs type of electroretinogram (proportionally reduced a- and b-waves). Patients with Riggs-type CSNB have visual acuity within the normal range and no symptoms of myopia and/or nystagmus (summary by Riazuddin et al., 2010).
For a general phenotypic description and a discussion of genetic heterogeneity of congenital stationary night blindness, see CSNB1A (310500).|OMIM|N|
C3151201|Smooth muscle dysfunction syndrome (SMDYS) presents with a recognizable pattern of complications, including congenital mydriasis, patent ductus arteriosus (PDA), pulmonary artery hypertension, aortic and other arterial aneurysms, moyamoya-like cerebrovascular disease, intestinal hypoperistalsis and malrotation, and hypotonic bladder. It is caused by heterozygous mutations of the ACTA2 gene altering the arginine-179 codon (summary by Regalado et al., 2018).|OMIM|N|
C3151202|Leber congenital amaurosis comprises a group of early-onset childhood retinal dystrophies characterized by vision loss, nystagmus, and severe retinal dysfunction. Patients usually present at birth with profound vision loss and pendular nystagmus. Electroretinogram (ERG) responses are usually nonrecordable. Other clinical findings may include high hypermetropia, photodysphoria, oculodigital sign, keratoconus, cataracts, and a variable appearance to the fundus (summary by Chung and Traboulsi, 2009).
For a general description and a discussion of genetic heterogeneity of LCA, see 204000.|OMIM|N|
C3151204|Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYOZ2 gene.|MONDO|N|
C3151205|Dihydrofolate reductase deficiency is an autosomal recessive metabolic disorder characterized by the hematologic findings of megaloblastic anemia and variable neurologic symptoms, ranging from severe developmental delay and generalized seizures in infancy (Banka et al., 2011) to childhood absence epilepsy with learning difficulties to lack of symptoms (Cario et al., 2011). Treatment with folinic acid can ameliorate some of the symptoms.|OMIM|N|
C3151206|Autosomal recessive childhood-onset severe retinal dystrophy is a heterogeneous group of disorders affecting rod and cone photoreceptors simultaneously. The most severe cases are termed Leber congenital amaurosis, whereas the less aggressive forms are usually considered juvenile retinitis pigmentosa (summary by Gu et al., 1997).
Mutation in TULP1 can also cause a form of autosomal recessive retinitis pigmentosa (RP14; 600132).
For a general phenotypic description and a discussion of the genetic heterogeneity of Leber congenital amaurosis, see LCA1 (204000); for retinitis pigmentosa, see 268000.|OMIM|N|
C3151209|HUPRA syndrome is a severe autosomal recessive multisystem disorder characterized by onset in infancy of progressive renal failure leading to electrolyte imbalances, metabolic alkalosis, pulmonary hypertension, hypotonia, and delayed development. Affected individuals are born prematurely (summary by Belostotsky et al., 2011).|OMIM|N|
C3151211|Osteogenesis imperfecta (OI) comprises a group of connective tissue disorders characterized by bone fragility and low bone mass. The disorder is clinically and genetically heterogeneous. OI type X is an autosomal recessive form characterized by multiple bone deformities and fractures, generalized osteopenia, dentinogenesis imperfecta, and blue sclera (Christiansen et al., 2010).|OMIM|N|
C3151218|Osteogenesis imperfecta (OI) comprises a group of connective tissue disorders characterized by bone fragility and low bone mass. The disorder is clinically and genetically heterogeneous. OI type XI is an autosomal recessive form of OI (summary by Alanay et al., 2010).|OMIM|N|
C3151221|Multiple types of congenital heart defects are associated with mutation in the GDF1 gene, including tetralogy of fallot (TOF), transposition of the great arteries (TGA), double-outlet right ventricle (DORV), total anomalous pulmonary venous return (TAPVR), pulmonary stenosis or atresia, atrioventricular canal, ventricular septal defect (VSD), and hypoplastic left or right ventricle (Jin et al., 2017).
For a discussion of genetic heterogeneity of multiple types of congenital heart defects, see 306955.|OMIM|N|
C3151226|Individuals with ficolin-3 deficiency have highly variable manifestations and a variable age of symptom onset. Some patients may show increased susceptibility to infection in the perinatal or neonatal period, whereas others may show autoimmune features as adults. Ficolin-3, also known as H-ficolin, can activate the lectin pathway of the complement system; deficiency may thus lead to defects in the complement system (summary by Munthe-Fog et al., 2009 and Michalski et al., 2015).
For a discussion of genetic heterogeneity of lectin complement activation pathway defects, see LCAPD1 (614372).|OMIM|N|
C3151227|Any retinitis pigmentosa in which the cause of the disease is a mutation in the DHDDS gene.|MONDO|N|
C3151228|Retinitis pigmentosa (RP) describes a group of disorders with progressive degeneration of rod and cone photoreceptors in a rod-cone pattern of dysfunction. RP has a prevalence of 1 in 3,500, and is genetically and phenotypically heterogeneous (summary by Mackay et al., 2010).
For a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000.|OMIM|N|
C3151230|Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the SLC26A5 gene.|MONDO|N|
C3151264|An autosomal dominant subtype of familial hypertrophic cardiomyopathy caused by mutation(s) in the JPH2 gene, encoding junctophilin-2.|NCI|N|
C3151265|Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the PLN gene.|MONDO|N|
C3151267|Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the NEXN gene.|MONDO|N|
C3151293|An autosomal dominant subtype of dilated cardiomyopathy caused by mutation(s) in the BAG3 gene, encoding BAG family molecular chaperone regulator 3.|NCI|N|
C3151302|The chromosome 13q14 deletion syndrome is characterized by retinoblastoma (180200), variable degrees of mental impairment, and characteristic facial features, including high forehead, prominent philtrum, and anteverted earlobes (summary by Caselli et al., 2007).|OMIM|N|
C3151303|OBHD is a neurodevelopmental disorder characterized by global developmental delay and hyperphagia resulting in obesity. Some patients may develop seizures (summary by Hamdan et al., 2017).|OMIM|N|
C3151304|Any cataract in which the cause of the disease is a mutation in the TDRD7 gene.|MONDO|N|
C3151343|Spinocerebellar ataxia-32 (SCA32) is an autosomal dominant neurologic disorder characterized by ataxia, variable mental impairment, and azoospermia in males (summary by Jiang et al., 2010).
For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (164400).|OMIM|N|
C3151347|Acquired partial lipodystrophy (APLD) is characterized clinically by the gradual onset of bilaterally symmetrical loss of subcutaneous fat from the face, neck, upper extremities, thorax, and abdomen, in the 'cephalocaudal' sequence, sparing the lower extremities. A large group of patients (83%) with acquired partial lipodystrophy have low serum levels of complement component C3 due to the presence of C3 nephritic factor, an IgG antibody that causes continuous activation of the alternative complement pathway and consumption of serum C3. About 22% of patients with this acquired complement defect develop membranoproliferative glomerulonephritis. Some individuals may also show an increased risk of infection (Misra et al., 2004).
Acquired partial lipodystrophy is not inherited in a classic mendelian pattern; it rather represents a phenotype with a complex etiology. Affected individuals may have genetic susceptibility factors that require the additional presence of environmental factors or acquired disorders to be expressed (summary by Hegele et al., 2006). Most cases are sporadic, family history is negative, and females are more often affected than males (ratio, 4:1) (summary by Misra et al., 2004).
See 608709 for a subtype of APLD not associated with low complement C3 or renal disease.|OMIM|N|
C3151351|Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the KARS gene.|MONDO|N|
C3151355|The classic phenotype of megalencephalic leukoencephalopathy with subcortical cysts (MLC) is characterized by early-onset macrocephaly, often in combination with mild gross motor developmental delay and seizures; gradual onset of ataxia, spasticity, and sometimes extrapyramidal findings; and usually late onset of mild mental deterioration. Macrocephaly, observed in virtually all individuals, may be present at birth but more frequently develops during the first year of life. The degree of macrocephaly is variable and can be as great as 4 to 6 SD above the mean in some individuals. After the first year of life, head growth rate normalizes and growth follows a line parallel to and usually several centimeters above the 98th centile. Initial mental and motor development is normal in most individuals. Walking is often unstable, followed by ataxia of the trunk and extremities, then minor signs of pyramidal dysfunction and brisk deep-tendon stretch reflexes. Almost all individuals have epilepsy from an early age. The epilepsy is typically well controlled with anti-seizure medication, but status epilepticus occurs relatively frequently. Mental deterioration is late and mild. Disease severity ranges from independent walking for a few years only to independent walking in the fifth decade. Some individuals have died in their teens or twenties; others are alive in their fifties. An improving phenotype has a similar initial presentation with delayed mental or motor development, followed by an improving clinical course: macrocephaly usually persists, but some children become normocephalic; motor function improves or normalizes; hypotonia and clumsiness may persist in some or neurologic examination may become normal. Some have intellectual disability that is stable, with or without autism. Epilepsy and status epilepticus may occur.|GeneReviews|N|
C3151356|The classic phenotype of megalencephalic leukoencephalopathy with subcortical cysts (MLC) is characterized by early-onset macrocephaly, often in combination with mild gross motor developmental delay and seizures; gradual onset of ataxia, spasticity, and sometimes extrapyramidal findings; and usually late onset of mild mental deterioration. Macrocephaly, observed in virtually all individuals, may be present at birth but more frequently develops during the first year of life. The degree of macrocephaly is variable and can be as great as 4 to 6 SD above the mean in some individuals. After the first year of life, head growth rate normalizes and growth follows a line parallel to and usually several centimeters above the 98th centile. Initial mental and motor development is normal in most individuals. Walking is often unstable, followed by ataxia of the trunk and extremities, then minor signs of pyramidal dysfunction and brisk deep-tendon stretch reflexes. Almost all individuals have epilepsy from an early age. The epilepsy is typically well controlled with anti-seizure medication, but status epilepticus occurs relatively frequently. Mental deterioration is late and mild. Disease severity ranges from independent walking for a few years only to independent walking in the fifth decade. Some individuals have died in their teens or twenties; others are alive in their fifties. An improving phenotype has a similar initial presentation with delayed mental or motor development, followed by an improving clinical course: macrocephaly usually persists, but some children become normocephalic; motor function improves or normalizes; hypotonia and clumsiness may persist in some or neurologic examination may become normal. Some have intellectual disability that is stable, with or without autism. Epilepsy and status epilepticus may occur.|GeneReviews|N|
C3151363|Sleepwalking (SW) is a disorder in which a series of complex behaviors are initiated during slow-wave (non-REM) sleep and result in walking during sleep (American Academy of Sleep Medicine, 2005). It is a parasomnia, defined as a clinical disorder resulting in undesirable physical phenomena that occur predominantly during sleep. Parasomnias are not abnormalities of the processes responsible for sleep and wake states (summary by Hublin and Kaprio, 2003). Sleepwalking is more common in childhood (up to 26%), and usually resolves in adolescence; however, it can persist into adulthood (3%) (Hublin et al., 1997).|OMIM|N|
C3151380|A schizophrenia that has material basis in a mutation of SHANK3 on chromosome 22q13.33.|MONDO|N|
C3151403|A form of amyotrophic lateral sclerosis caused by heterozygous mutation(s) in the VCP gene, encoding transitional endoplasmic reticulum ATPase.|NCI|N|
C3151404|Primary localized cutaneous amyloidosis is characterized clinically by pruritus and skin scratching and histologically by the finding of deposits of amyloid staining on keratinous debris in the papillary dermis (summary by Tanaka et al., 2009).
For a general description and a discussion of genetic heterogeneity of PLCA, see 105250.|OMIM|N|
C3151405|Any familial chronic mucocutaneous candidiasis in which the cause of the disease is a mutation in the IL17F gene.|MONDO|N|
C3151406|Any azoospermia in which the cause of the disease is a mutation in the NR5A1 gene.|MONDO|N|
C3151407|Spermatogenic failure-9 (SPGF9) is associated with globozoospermia, a rare phenotype of primary male infertility characterized by the production of a majority of round-headed spermatozoa without an acrosome (summary by Harbuz et al., 2011).
For a general phenotypic description and a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).|OMIM|N|
C3151408|A schizophrenia that has material basis in a mutation on chromosome 7q36.3.|MONDO|N|
C3151409|Chronic granulomatous disease (CGD) is a primary immunodeficiency disorder of phagocytes (neutrophils, monocytes, macrophages, and eosinophils) resulting from impaired killing of bacteria and fungi. CGD is characterized by severe recurrent bacterial and fungal infections and dysregulated inflammatory responses resulting in granuloma formation and other inflammatory disorders such as colitis. Infections typically involve the lung (pneumonia), lymph nodes (lymphadenitis), liver (abscess), bone (osteomyelitis), and skin (abscesses or cellulitis). Granulomas typically involve the genitourinary system (bladder) and gastrointestinal tract (often the pylorus initially, and later the esophagus, jejunum, ileum, cecum, rectum, and perirectal area). Some males with X-linked CGD have McLeod neuroacanthocytosis syndrome as the result of a contiguous gene deletion. While CGD may present anytime from infancy to late adulthood, the vast majority of affected individuals are diagnosed before age five years. Use of antimicrobial prophylaxis and therapy has greatly improved overall survival.|GeneReviews|N|
C3151410|Myopia, or nearsightedness, is a refractive error of the eye. Light rays from a distant object are focused in front of the retina and those from a near object are focused in the retina; therefore distant objects are blurry and near objects are clear (summary by Kaiser et al., 2004).
For a discussion of genetic heterogeneity of susceptibility to myopia, see 160700.|OMIM|N|
C3151411|GRIN2B-related neurodevelopmental disorder is characterized by mild to profound developmental delay / intellectual disability (DD/ID) in all affected individuals. Muscle tone abnormalities (spasticity and/or hypotonia, occasionally associated with feeding difficulties), as well as epilepsy and autism spectrum disorder (ASD) / behavioral issues, are common. Other infantile- or childhood-onset findings include microcephaly; dystonic, dyskinetic, or choreiform movement disorder; and/or cortical visual impairment. Brain MRI reveals a malformation of cortical development in a minority of affected individuals. To date, fewer than 100 individuals with GRIN2B-related neurodevelopmental disorder have been reported.|GeneReviews|N|
C3151417|Malignant melanoma is a neoplasm of pigment-producing cells called melanocytes that occurs most often in the skin, but may also occur in the eyes, ears, gastrointestinal tract, leptomeninges, and oral and genital mucous membranes (summary by Habif, 2010).
For a discussion of genetic heterogeneity of cutaneous malignant melanoma, see 155600.|OMIM|N|
C3151421|Neonatal cyanosis is characterized by symptoms in the fetus and neonate that gradually abate by 5 to 6 months of age. The disorder is caused by a defect in the fetal hemoglobin chain, which causes reduced affinity for oxygen due to steric inhibition of oxygen binding and/or due to increased oxidation of the fetal hemoglobin molecule to methemoglobin (Hb FM), which has decreased oxygen-binding capacity. Some patients develop anemia resulting from increased destruction of red cells containing abnormal or unstable hemoglobin. The cyanosis resolves spontaneously by 5 to 6 months of age or earlier, as the adult beta-globin chain (HBB; 141900) is produced and replaces the fetal gamma-globin chain (summary by Crowley et al., 2011).|OMIM|N|
C3151431|Atrial fibrillation (AF) is the most common sustained cardiac rhythm disturbance, affecting more than 2 million Americans, with an overall prevalence of 0.89%. The prevalence increases rapidly with age, to 2.3% between the ages of 40 and 60 years, and to 5.9% over the age of 65. The most dreaded complication is thromboembolic stroke (Brugada et al., 1997).
For a discussion of genetic heterogeneity of atrial fibrillation, see 608583.|OMIM|N|
C3151432|Hypotrichosis simplex can affect all body hair (generalized; see 605389) or be limited to the scalp. Usually patients with the scalp-limited form of hypotrichosis present with normal hair at birth; they experience a progressive, gradual loss of scalp hair beginning at the middle of the first decade and leading to almost complete loss of scalp hair by the third decade. A few sparse, fine, short hairs remain in some individuals. Body hair, beard, eyebrows, axillary hair, teeth, and nails develop normally. Light and electron microscopy of hairs from patients with early hypotrichosis simplex revealed no structural changes, whereas hairs from patients with advanced hypotrichosis showed focal areas of defective cuticular structure. Men and women are equally affected (summary by Betz et al., 2000).
For a discussion of genetic heterogeneity of nonsyndromic hypotrichosis, see HYPT1 (605389).|OMIM|N|
C3151433|Osteogenesis imperfecta (OI) comprises a group of connective tissue disorders characterized by bone fragility and low bone mass. The disorder is clinically and genetically heterogeneous. OI type XII is an autosomal recessive form characterized by recurrent fractures, mild bone deformations, generalized osteoporosis, delayed teeth eruption, progressive hearing loss, no dentinogenesis imperfecta, and white sclerae (summary by Lapunzina et al., 2010).|OMIM|N|
C3151434|Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF6 gene.|MONDO|N|
C3151440|Any combined pituitary hormone deficiencies, genetic form in which the cause of the disease is a mutation in the OTX2 gene.|MONDO|N|
C3151441|Dyskeratosis congenita and related telomere biology disorders (DC/TBD) are caused by impaired telomere maintenance resulting in short or very short telomeres. The phenotypic spectrum of telomere biology disorders is broad and includes individuals with classic dyskeratosis congenita (DC) as well as those with very short telomeres and an isolated physical finding. Classic DC is characterized by a triad of dysplastic nails, lacy reticular pigmentation of the upper chest and/or neck, and oral leukoplakia, although this may not be present in all individuals. People with DC/TBD are at increased risk for progressive bone marrow failure (BMF), myelodysplastic syndrome or acute myelogenous leukemia, solid tumors (usually squamous cell carcinoma of the head/neck or anogenital cancer), and pulmonary fibrosis. Other findings can include eye abnormalities (epiphora, blepharitis, sparse eyelashes, ectropion, entropion, trichiasis), taurodontism, liver disease, gastrointestinal telangiectasias, and avascular necrosis of the hips or shoulders. Although most persons with DC/TBD have normal psychomotor development and normal neurologic function, significant developmental delay is present in both forms; additional findings include cerebellar hypoplasia (Hoyeraal Hreidarsson syndrome) and bilateral exudative retinopathy and intracranial calcifications (Revesz syndrome and Coats plus syndrome). Onset and progression of manifestations of DC/TBD vary: at the mild end of the spectrum are those who have only minimal physical findings with normal bone marrow function, and at the severe end are those who have the diagnostic triad and early-onset BMF.|GeneReviews|N|
C3151442|Dyskeratosis congenita and related telomere biology disorders (DC/TBD) are caused by impaired telomere maintenance resulting in short or very short telomeres. The phenotypic spectrum of telomere biology disorders is broad and includes individuals with classic dyskeratosis congenita (DC) as well as those with very short telomeres and an isolated physical finding. Classic DC is characterized by a triad of dysplastic nails, lacy reticular pigmentation of the upper chest and/or neck, and oral leukoplakia, although this may not be present in all individuals. People with DC/TBD are at increased risk for progressive bone marrow failure (BMF), myelodysplastic syndrome or acute myelogenous leukemia, solid tumors (usually squamous cell carcinoma of the head/neck or anogenital cancer), and pulmonary fibrosis. Other findings can include eye abnormalities (epiphora, blepharitis, sparse eyelashes, ectropion, entropion, trichiasis), taurodontism, liver disease, gastrointestinal telangiectasias, and avascular necrosis of the hips or shoulders. Although most persons with DC/TBD have normal psychomotor development and normal neurologic function, significant developmental delay is present in both forms; additional findings include cerebellar hypoplasia (Hoyeraal Hreidarsson syndrome) and bilateral exudative retinopathy and intracranial calcifications (Revesz syndrome and Coats plus syndrome). Onset and progression of manifestations of DC/TBD vary: at the mild end of the spectrum are those who have only minimal physical findings with normal bone marrow function, and at the severe end are those who have the diagnostic triad and early-onset BMF.|GeneReviews|N|
C3151443|Dyskeratosis congenita and related telomere biology disorders (DC/TBD) are caused by impaired telomere maintenance resulting in short or very short telomeres. The phenotypic spectrum of telomere biology disorders is broad and includes individuals with classic dyskeratosis congenita (DC) as well as those with very short telomeres and an isolated physical finding. Classic DC is characterized by a triad of dysplastic nails, lacy reticular pigmentation of the upper chest and/or neck, and oral leukoplakia, although this may not be present in all individuals. People with DC/TBD are at increased risk for progressive bone marrow failure (BMF), myelodysplastic syndrome or acute myelogenous leukemia, solid tumors (usually squamous cell carcinoma of the head/neck or anogenital cancer), and pulmonary fibrosis. Other findings can include eye abnormalities (epiphora, blepharitis, sparse eyelashes, ectropion, entropion, trichiasis), taurodontism, liver disease, gastrointestinal telangiectasias, and avascular necrosis of the hips or shoulders. Although most persons with DC/TBD have normal psychomotor development and normal neurologic function, significant developmental delay is present in both forms; additional findings include cerebellar hypoplasia (Hoyeraal Hreidarsson syndrome) and bilateral exudative retinopathy and intracranial calcifications (Revesz syndrome and Coats plus syndrome). Onset and progression of manifestations of DC/TBD vary: at the mild end of the spectrum are those who have only minimal physical findings with normal bone marrow function, and at the severe end are those who have the diagnostic triad and early-onset BMF.|GeneReviews|N|
C3151444|A dyskeratosis congenita that has material basis in an autosomal recessive mutation of TERT on chromosome 5p15.33.|MONDO|N|
C3151445|Dyskeratosis congenita and related telomere biology disorders (DC/TBD) are caused by impaired telomere maintenance resulting in short or very short telomeres. The phenotypic spectrum of telomere biology disorders is broad and includes individuals with classic dyskeratosis congenita (DC) as well as those with very short telomeres and an isolated physical finding. Classic DC is characterized by a triad of dysplastic nails, lacy reticular pigmentation of the upper chest and/or neck, and oral leukoplakia, although this may not be present in all individuals. People with DC/TBD are at increased risk for progressive bone marrow failure (BMF), myelodysplastic syndrome or acute myelogenous leukemia, solid tumors (usually squamous cell carcinoma of the head/neck or anogenital cancer), and pulmonary fibrosis. Other findings can include eye abnormalities (epiphora, blepharitis, sparse eyelashes, ectropion, entropion, trichiasis), taurodontism, liver disease, gastrointestinal telangiectasias, and avascular necrosis of the hips or shoulders. Although most persons with DC/TBD have normal psychomotor development and normal neurologic function, significant developmental delay is present in both forms; additional findings include cerebellar hypoplasia (Hoyeraal Hreidarsson syndrome) and bilateral exudative retinopathy and intracranial calcifications (Revesz syndrome and Coats plus syndrome). Onset and progression of manifestations of DC/TBD vary: at the mild end of the spectrum are those who have only minimal physical findings with normal bone marrow function, and at the severe end are those who have the diagnostic triad and early-onset BMF.|GeneReviews|N|
C3151446|Nestor-Guillermo progeria syndrome (NGPS) is an autosomal recessive disorder characterized by lipoatrophy, osteoporosis, and very severe osteolysis. Patients have no cardiovascular impairment, diabetes mellitus, or hypertriglyceridemia, but suffer profound skeletal abnormalities that affect their quality of life. Onset is after 2 years of age, and lifespan is relatively long (summary by Cabanillas et al., 2011).|OMIM|N|
C3151449|Osteolysis (destruction of bone through bone resorption with removal or loss of calcium) localized to a rib.|HPO|N|
C3151450|Osteolysis (destruction of bone through bone resorption with removal or loss of calcium) localized to the mandible.|HPO|N|
C3151460|Primary ciliary dyskinesia-16 (CILD16) is an autosomal recessive disorder characterized by early infantile onset of respiratory distress associated with absence of ciliary outer dynein arms (Mazor et al., 2011).
For a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400).|OMIM|N|
C3151461|Lissencephaly-4 (LIS4) is an autosomal recessive neurodevelopmental disorder characterized by lissencephaly, severe brain atrophy, extreme microcephaly (head circumference of more than 10 standard deviations (SD) below the mean), and profound mental retardation. It has also been referred to as 'microlissencephaly' (summary by Bakircioglu et al., 2011 and Alkuraya et al., 2011).
For a general phenotypic description and a discussion of genetic heterogeneity of lissencephaly, see LIS1 (607432).|OMIM|N|
C3151462|Autosomal recessive intellectual developmental disorder-14 (MRT14) is characterized by developmental delay from birth with mild to moderate impairment of intellectual development. There are no dysmorphic features, and growth parameters and neurologic findings are normal.|OMIM|N|
C3151463|Catecholaminergic polymorphic ventricular tachycardia (CPVT) is characterized by episodic syncope occurring during exercise or acute emotion. The underlying cause of these episodes is the onset of fast ventricular tachycardia (bidirectional or polymorphic). Spontaneous recovery may occur when these arrhythmias self-terminate. In other instances, ventricular tachycardia may degenerate into ventricular fibrillation and cause sudden death if cardiopulmonary resuscitation is not readily available. The mean onset of symptoms (usually a syncopal episode) is between age seven and 12 years; onset as late as the fourth decade of life has been reported. If untreated, CPVT is highly lethal, as approximately 30% of affected individuals experience at least one cardiac arrest and up to 80% have one or more syncopal spells. Sudden death may be the first manifestation of the disease.|GeneReviews|N|
C3151464|Atrial fibrillation is the most common sustained cardiac rhythm disturbance, affecting more than 2 million Americans, with an overall prevalence of 0.89%. The prevalence increases rapidly with age, to 2.3% between the ages of 40 and 60 years, and to 5.9% over the age of 65. The most dreaded complication is thromboembolic stroke (Brugada et al., 1997).
For a discussion of genetic heterogeneity of atrial fibrillation, see 608583.|OMIM|N|
C3151465|Protein Z serves as a cofactor for the downregulation of coagulation by forming a complex with the protein Z-dependent protease inhibitor (ZPI; 605271). Evidence also suggests that protein Z may promote the assembly of thrombin with phospholipid surfaces, thus enhancing coagulation. There is a wide variation of protein Z levels in human plasma, and studies have reported conflicting results of the clinical consequences of protein Z deficiency in humans. Most studies have reported an association between decreased protein Z levels and thrombosis, including stroke, venous thrombosis, and obstetric complications, although early reports suggested an association between protein Z deficiency and bleeding tendency (Kemkes-Matthes and Matthes, 1995). Overall, a role for protein Z in the pathogenesis of hemostatic disorders in humans is controversial and remains unclear (review by Broze, 2001 and Vasse, 2008).
Protein Z deficiency has been shown to exacerbate the thrombotic phenotype in patients with thrombophilia due to factor V Leiden (see 188055).|OMIM|N|
C3151466|Hepatic lipase deficiency is characterized by premature atherosclerosis, elevated total cholesterol, triglycerides (TG), and very low density lipoprotein (VLDL), as well as TG-rich low density lipoprotein (LDL) and HDL subfractions (summary by Hegele et al., 1991).|OMIM|N|
C3151476|SUCLG1-related mitochondrial DNA (mtDNA) depletion syndrome, encephalomyopathic form with methylmalonic aciduria is characterized in the majority of affected newborns by hypotonia, muscle atrophy, feeding difficulties, and lactic acidosis. Affected infants commonly manifest developmental delay / cognitive impairment, growth retardation / failure to thrive, hepatopathy, sensorineural hearing impairment, dystonia, and hypertonia. Notable findings in some affected individuals include hypertrophic cardiomyopathy, epilepsy, myoclonus, microcephaly, sleep disturbance, rhabdomyolysis, contractures, hypothermia, and/or hypoglycemia. Life span is shortened, with median survival of 20 months.|GeneReviews|N|
C3151493|A rare multiple congenital anomalies syndrome characterized by cutaneous mastocytosis, microcephaly, microtia and/or hearing loss, hypotonia and skeletal anomalies (e.g. clinodactyly, camptodactyly, scoliosis). Additional common features are short stature, intellectual disability and difficulties. Facial dysmorphism may include upslanted palpebral fissures, highly arched palate and micrognathia. Rarely, seizures and asymmetrically small feet have been reported.|ORDO|N|
C3151495|Increased width of the upper lip.|HPO|N|
C3151519|An autosomal recessive muscular dystrophy caused by mutations in the POMGNT1 gene. It is associated with characteristic brain and eye malformations, profound mental retardation, and death usually in the first years of life.|NCI|N|
C3151523|The presence of an abnormal curvature of the cervical vertebral column.|HPO|N|
C3151531|Congenital myopathy-11 (CMYP11) is an autosomal recessive skeletal muscle disorder characterized clinically by severe hypotonia apparent at birth, resulting in early feeding problems, motor delay, and walking difficulties. However, the course of the disease is nonprogressive: most affected individuals achieve independent ambulation and tend to show improvement of muscle weakness throughout childhood and early adulthood. There is no respiratory or cardiac involvement; cognitive development is normal. Muscle biopsy may show rare centralized nuclei, type 1 fiber hypotrophy, and type 1 fiber predominance, suggestive of a pathologic diagnosis of congenital fiber-type disproportion (CFTD). However, the findings on skeletal muscle biopsy may be nonspecific (Muhammad et al., 2013).
For a discussion of genetic heterogeneity of congenital myopathy, see CMYP1A (117000).|OMIM|N|
C3151568|WT1 disorder is characterized by congenital/infantile or childhood onset of steroid-resistant nephrotic syndrome (SRNS), a progressive glomerulopathy that does not respond to standard steroid therapy. Additional common findings can include disorders of testicular development (with or without abnormalities of the external genitalia and/or müllerian structures) and Wilms tumor. Less common findings are congenital anomalies of the kidney and urinary tract (CAKUT) and gonadoblastoma. While various combinations of renal and other findings associated with a WT1 pathogenic variant were designated as certain syndromes in the past, those designations are now recognized to be part of a phenotypic continuum and are no longer clinically helpful.|GeneReviews|N|
C3151571|Autosomal recessive congenital nystagmus-8 (NYS8) is characterized by the presence of bilateral horizontal nystagmus in the absence of other neurologic signs or symptoms. Brain imaging is normal (Huang et al., 2022).
For a discussion of genetic heterogeneity of congenital nystagmus, see NYS1 (310700).|OMIM|N|
C3151572|Blount disease is a developmental condition characterized by disordered endochondral ossification of the medial part of the proximal tibial physis resulting in multiplanar deformities of the lower limb (review by Sabharwal, 2009).|OMIM|N|
C3151617|Anterior segment dysgeneses (ASGD or ASMD) are a heterogeneous group of developmental disorders affecting the anterior segment of the eye, including the cornea, iris, lens, trabecular meshwork, and Schlemm canal. The clinical features of ASGD include iris hypoplasia, an enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, an abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface (summary by Cheong et al., 2016).
In sclerocornea there is congenital, nonprogressive corneal opacification that may be peripheral, sectoral, or central in location. Visual prognosis is related to the central corneal involvement. The cornea has a flat curvature. The majority of cases are bilateral (summary by Smith and Traboulsi, 2012).
Isolated sclerocornea is caused by displacement of the limbal arcades and may be associated with cornea plana; in this condition, the anterior chamber is visible and the eye is not microphthalmic. In complex sclerocornea, however, corneal opacification is associated with microphthalmia, cataract, and/or infantile glaucoma. The central cornea is usually relatively clear, but the thickness is normal or increased, never reduced (summary by Nischal, 2007).|OMIM|N|
C3151619|This progressive neurodegenerative disorder is characterized by early childhood onset of spastic ataxia with mental retardation, cerebellar signs, and variable optic atrophy (Hogan and Bauman, 1977).|OMIM|N|
C3151752|Classic congenital or infantile nystagmus presents as conjugate, horizontal oscillations of the eyes, in primary or eccentric gaze, often with a preferred head turn or tilt. Other associated features may include mildly decreased visual acuity, strabismus, astigmatism, and occasionally head nodding. Eye movement recordings reveal that infantile nystagmus is predominantly a horizontal jerk waveform, with a diagnostic accelerating velocity slow phase. However, pendular and triangular waveforms may also be present. The nystagmus may rarely be vertical. As these patients often have normal visual acuity, it is presumed that the nystagmus represents a primary defect in the parts of the brain responsible for ocular motor control; thus the disorder has sometimes been termed 'congenital motor nystagmus' (Tarpey et al., 2006; Shiels et al., 2007).
For a discussion of genetic heterogeneity of congenital nystagmus, see NYS1 (310700).|OMIM|N|
C3151753|Combined oxidative phosphorylation deficiency-6 (COXPD6) is an X-linked recessive severe encephalomyopathic disorder with onset in utero or in infancy. Affected patients have hypotonia and severely impaired psychomotor development associated with variably decreased enzymatic activity of mitochondrial respiratory complexes in skeletal muscle or fibroblasts. More variable features may include sensorimotor neuropathy, seizures, severe muscle weakness, abnormal signals in the basal ganglia, hypertrophic cardiomyopathy, deafness, swallowing difficulties, and respiratory insufficiency. Death in childhood may occur (summary by Berger et al., 2011).
For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060).|OMIM|N|
C3151781|The NSDHL-related disorders include: CHILD (congenital hemidysplasia with ichthyosiform nevus and limb defects) syndrome, an X-linked condition that is usually male lethal during gestation and thus predominantly affects females; and CK syndrome, an X-linked disorder that affects males. CHILD syndrome is characterized by unilateral distribution of ichthyosiform (yellow scaly) skin lesions and ipsilateral limb defects that range from shortening of the metacarpals and phalanges to absence of the entire limb. Intellect is usually normal. The ichthyosiform skin lesions are usually present at birth or in the first weeks of life; new lesions can develop in later life. Nail changes are also common. The heart, lung, and kidneys can also be involved. CK syndrome (named for the initials of the original proband) is characterized by mild to severe cognitive impairment and behavior problems (aggression, attention deficit hyperactivity disorder, and irritability). All affected males reported have developed seizures in infancy and have cerebral cortical malformations and microcephaly. All have distinctive facial features, a thin habitus, and relatively long, thin fingers and toes. Some have scoliosis and kyphosis. Strabismus is common. Optic atrophy is also reported.|GeneReviews|N|
C3151782|Nonsyndromic 46,XX testicular disorders/differences of sex development (DSD) are characterized by: the presence of a 46,XX karyotype; external genitalia ranging from typical male to ambiguous; two testicles; azoospermia; absence of müllerian structures; and absence of other syndromic features, such as congenital anomalies outside of the genitourinary system, learning disorders / cognitive impairment, or behavioral issues. Approximately 85% of individuals with nonsyndromic 46,XX testicular DSD present after puberty with normal pubic hair and normal penile size but small testes, gynecomastia, and sterility resulting from azoospermia. Approximately 15% of individuals with nonsyndromic 46,XX testicular DSD present at birth with ambiguous genitalia. Gender role and gender identity are reported as male. If untreated, males with 46,XX testicular DSD experience the consequences of testosterone deficiency.|GeneReviews|N|
C3151857|This multisystem disorder is characterized by moyamoya disease, short stature, hypergonadotropic hypogonadism, and facial dysmorphism. Other variable features include dilated cardiomyopathy, premature graying of the hair, and early-onset cataracts. Moyamoya disease is a progressive cerebrovascular disorder characterized by stenosis or occlusion of the internal carotid arteries and the main branches, leading to the development of small collateral vessels (moyamoya vessels) at the base of the brain. Affected individuals can develop acute neurologic events due to stroke-like episodes (summary by Miskinyte et al., 2011).
For a general phenotypic description and a discussion of genetic heterogeneity of moyamoya disease, see MYMY1 (252350).|OMIM|N|
C3151897|Mitochondrial nonsyndromic hearing loss and deafness is characterized by sensorineural hearing loss (SNHL) of variable onset and severity. Pathogenic variants in MT-RNR1 can be associated with predisposition to aminoglycoside ototoxicity and/or late-onset SNHL. Hearing loss associated with aminoglycoside ototoxicity is bilateral and severe to profound, occurring within a few days to weeks after administration of any amount (even a single dose) of an aminoglycoside antibiotic such as gentamycin, tobramycin, amikacin, kanamycin, or streptomycin. Pathogenic variants in MT-TS1 are usually associated with childhood onset of SNHL that is generally nonsyndromic – although the MT-TS1 substitution m.7445A>G has been found in some families who also have palmoplantar keratoderma (scaling, hyperkeratosis, and honeycomb appearance of the skin of the palms, soles, and heels).|GeneReviews|N|
C3151898|Infantile mitochondrial myopathy due to reversible COX deficiency is a rare mitochondrial disorder characterized by onset in infancy of severe hypotonia and generalized muscle weakness associated with lactic acidosis, but is distinguished from other mitochondrial disorders in that affected individuals recover spontaneously after 1 year of age (summary by Mimaki et al., 2010).
See also transient infantile liver failure (LFIT; 613070), which is a similar disorder.|OMIM|N|
C3151952|An abnormally increased level of 3-hydroxy-3-methylglutaric acid in the urine.|HPO|N|
C3151959|Proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome is characterized by onset of proximal tubulopathy in the first year of life, followed by progressive development during childhood of skin anomalies (erythrocyanosis and abnormal pigmentation), blindness, osteoporosis, cerebellar ataxia, mitochondrial myopathy, deafness and diabetes mellitus.|MONDO|N|
C3152020|Progressive bending or abnormal curvature of the forearm skeleton.|HPO|N|
C3152055|D-2-hydroxyglutaric aciduria is a neurometabolic disorder first described by Chalmers et al. (1980). Clinical symptoms include developmental delay, epilepsy, hypotonia, and dysmorphic features. Mild and severe phenotypes were characterized (van der Knaap et al., 1999). The severe phenotype is homogeneous and is characterized by early infantile-onset epileptic encephalopathy and, often, cardiomyopathy. The mild phenotype has a more variable clinical presentation.
Genetic Heterogeneity of D-2-Hydroxyglutaric Aciduria
D-2-hydroxyglutaric aciduria-2 (D2HGA2; 613657) is caused by heterozygous mutation in the mitochondrial isocitrate dehydrogenase-2 gene (IDH2; 147650) on chromosome 15q26.|OMIM|N|
C3152144|Agammaglobulinemia is a primary immunodeficiency characterized by profoundly low or absent serum antibodies and low or absent circulating B cells due to an early block of B-cell development. Affected individuals develop severe infections in the first years of life. The most common form of agammaglobulinemia is X-linked agammaglobulinemia (AGMX1, XLA; 300755), also known as Bruton disease, which is caused by mutation in the BTK gene (300300). AGMX1 accounts for anywhere from 85 to 95% of males who have the characteristic findings (Lopez Granados et al., 2002; Ferrari et al., 2007). Autosomal recessive inheritance of agammaglobulinemia, which has a similar phenotype to that of the X-linked form, has been observed in a small number of families, and accounts for up to 15% of patients with agammaglobulinemia (Ferrari et al., 2007). Conley (1999) gave a comprehensive review of autosomal recessive agammaglobulinemia.
Genetic Heterogeneity of Autosomal Agammaglobulinemia
Autosomal agammaglobulinemia is a genetically heterogeneous disorder: see also AGM2 (613500), caused by mutation in the IGLL1 gene (146770); AGM3 (613501), caused by mutation in the CD79A gene (112205); AGM4 (613502), caused by mutation in the BLNK gene (604515); AGM5 (613506), caused by disruption of the LRRC8 gene (608360);  AGM6 (612692), caused by mutation in the CD79B gene (147245); AGM7 (615214), caused by mutation in the PIK3R1 gene (171833); AGM8 (616941), caused by mutation in the TCF3 gene (147141); AGM9 (619693), caused by mutation in the SLC39A7 gene (601416); and AGM10 (619707), caused by mutation in the SPI1 gene (165170).|OMIM|N|
C3152182|Abnormality of the anterior chamber, which is the space in the eye that is behind the cornea and in front of the iris.|HPO|N|
C3152204|Malignant melanoma is a neoplasm of pigment-producing cells called melanocytes that occurs most often in the skin, but may also occur in the eyes, ears, gastrointestinal tract, leptomeninges, and oral and genital mucous membranes (summary by Habif, 2010).
For a discussion of genetic heterogeneity of cutaneous malignant melanoma, see CMM1 (155600).|OMIM|N|
C3152251|The PR (or PQ) interval is the time required for an electrical impulse to travel from the atrial myocardium adjacent to the sinus node through the atrioventricular node (AVN) to the Purkinje fibers. Delayed conduction results in prolongation of the PR interval and subsequent risk of atrial fibrillation (summary by Holm et al., 2010). The PR interval has a substantial heritable component, with heritability estimates ranging between 30 and 50%. The PR interval is considered an intermediate phenotype for atrial fibrillation, as alterations in atrial action potential duration and in atrioventricular conduction influence both PR interval and atrial fibrillation risk (summary by Pfeufer et al., 2010).|OMIM|N|
C3154899|A device that has exceeded the period of time/date recommended by the manufacturer for storing the device without a degradation in quality.|NCI|N|
C3154900|A device that cannot calibrate (establish the relationship between a measuring device and the units of measure) to ensure accurate readings.|NCI|N|
C3159311|Bornholm eye disease consists of X-linked high myopia, amblyopia, and deuteranopia. Associated signs include optic nerve hypoplasia, reduced electroretinographic (ERG) flicker, and nonspecific retinal pigment abnormalities (Schwartz et al., 1990).|OMIM|N|
C3159322|The autosomal dominant TRPV4 disorders (previously considered to be clinically distinct phenotypes before their molecular basis was discovered) are now grouped into neuromuscular disorders and skeletal dysplasias; however, the overlap within each group is considerable. Affected individuals typically have either neuromuscular or skeletal manifestations alone, and in only rare instances an overlap syndrome has been reported. The three autosomal dominant neuromuscular disorders (mildest to most severe) are: Charcot-Marie-Tooth disease type 2C. Scapuloperoneal spinal muscular atrophy. Congenital distal spinal muscular atrophy. The autosomal dominant neuromuscular disorders are characterized by a congenital-onset, static, or later-onset progressive peripheral neuropathy with variable combinations of laryngeal dysfunction (i.e., vocal fold paresis), respiratory dysfunction, and joint contractures. The six autosomal dominant skeletal dysplasias (mildest to most severe) are: Familial digital arthropathy-brachydactyly. Autosomal dominant brachyolmia. Spondylometaphyseal dysplasia, Kozlowski type. Spondyloepiphyseal dysplasia, Maroteaux type. Parastremmatic dysplasia. Metatropic dysplasia. The skeletal dysplasia is characterized by brachydactyly (in all 6); the five that are more severe have short stature that varies from mild to severe with progressive spinal deformity and involvement of the long bones and pelvis. In the mildest of the autosomal dominant TRPV4 disorders life span is normal; in the most severe it is shortened. Bilateral progressive sensorineural hearing loss (SNHL) can occur with both autosomal dominant neuromuscular disorders and skeletal dysplasias.|GeneReviews|N|
C3160712|A disorder characterized by an unpleasant sensation of irregular and/or forceful beating of the heart.|NCI|N|
C3160715|Mixed; being composed of a combination of normal and tumor cells.|NCI|N|
C3160718|Generally, Parkinson's disease that begins after age 50 is called late-onset disease. The condition is described as early-onset disease if signs and symptoms begin before age 50. Early-onset cases that begin before age 20 are sometimes referred to as juvenile-onset Parkinson's disease.\n\nParkinson's disease can also affect emotions and thinking ability (cognition). Some affected individuals develop psychiatric conditions such as depression and visual hallucinations. People with Parkinson's disease also have an increased risk of developing dementia, which is a decline in intellectual functions including judgment and memory.\n\nOften the first symptom of Parkinson's disease is trembling or shaking (tremor) of a limb, especially when the body is at rest. Typically, the tremor begins on one side of the body, usually in one hand. Tremors can also affect the arms, legs, feet, and face. Other characteristic symptoms of Parkinson's disease include rigidity or stiffness of the limbs and torso, slow movement (bradykinesia) or an inability to move (akinesia), and impaired balance and coordination (postural instability). These symptoms worsen slowly over time.\n\nParkinson's disease is a progressive disorder of the nervous system. The disorder affects several regions of the brain, especially an area called the substantia nigra that controls balance and movement.|MedlinePlus Genetics|N|
C3160720|Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the PSEN1 gene.|MONDO|N|
C3160733|Prothrombin thrombophilia is characterized by venous thromboembolism (VTE) manifest most commonly in adults as deep-vein thrombosis (DVT) in the legs or pulmonary embolism. The clinical expression of prothrombin thrombophilia is variable; many individuals heterozygous or homozygous for the 20210G>A F2 variant never develop thrombosis, and while most heterozygotes who develop thrombotic complications remain asymptomatic until adulthood, some have recurrent thromboembolism before age 30 years. The relative risk for DVT in adults heterozygous for the 20210G>A variant is two- to fivefold increased; in children, the relative risk for thrombosis is three- to fourfold increased. Heterozygosity for 20210G>A has at most a modest effect on recurrence risk after a first episode. Although prothrombin thrombophilia may increase the risk for pregnancy loss, its association with preeclampsia and other complications of pregnancy such as intrauterine growth restriction and placental abruption remains controversial. Factors that predispose to thrombosis in prothrombin thrombophilia include: the number of 20210G>A alleles; presence of coexisting genetic abnormalities including factor V Leiden; and acquired thrombophilic disorders (e.g., antiphospholipid antibodies). Circumstantial risk factors for thrombosis include pregnancy and oral contraceptive use. Some evidence suggests that the risk for VTE in 20210G>A heterozygotes increases after air travel.|GeneReviews|N|
C3160734|The catalyzed removal of phosphate groups from biological molecules, by phosphatases.|NCI|N|
C3160736|An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the fourth decade of life with high frequency progressive hearing loss and has material basis in a 269-kb duplication of chromosome 9q21.11 involving the TJP2 and FAM189A2 genes.|MONDO|N|
C3160738|Fanconi anemia (FA) is characterized by physical abnormalities, bone marrow failure, and increased risk for malignancy. Physical abnormalities, present in approximately 75% of affected individuals, include one or more of the following: short stature, abnormal skin pigmentation, skeletal malformations of the upper and/or lower limbs, microcephaly, and ophthalmic and genitourinary tract anomalies. Progressive bone marrow failure with pancytopenia typically presents in the first decade, often initially with thrombocytopenia or leukopenia. The incidence of acute myeloid leukemia is 13% by age 50 years. Solid tumors – particularly of the head and neck, skin, and genitourinary tract – are more common in individuals with FA.|GeneReviews|N|
C3160739|Fanconi anemia (FA) is characterized by physical abnormalities, bone marrow failure, and increased risk for malignancy. Physical abnormalities, present in approximately 75% of affected individuals, include one or more of the following: short stature, abnormal skin pigmentation, skeletal malformations of the upper and/or lower limbs, microcephaly, and ophthalmic and genitourinary tract anomalies. Progressive bone marrow failure with pancytopenia typically presents in the first decade, often initially with thrombocytopenia or leukopenia. The incidence of acute myeloid leukemia is 13% by age 50 years. Solid tumors – particularly of the head and neck, skin, and genitourinary tract – are more common in individuals with FA.|GeneReviews|N|
C3160740|An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 17p12-q11.2.|MONDO|N|
C3160854|An increased number and/or abnormal type of bacteria in the small bowel. Small intestinal bacterial overgrowth has been defined as the presence of greater than one hundred thousand bacteria (i.e. colony-forming units, CFU) per mL of proximal jejunal aspiration. The normal value is ten thousand or few CFU/ml.|HPO|N|
C3160858|An acute or subacute reversible condition characterized by headaches, mental status changes, visual disturbances, and seizures associated with imaging findings of posterior leukoencephalopathy. It has been observed in association with hypertensive encephalopathy, eclampsia, and immunosuppressive and cytotoxic drug treatment.|NCI|N|
C3160869|A carcinoma that arises from transitional cells and has spread from its original site of growth to another anatomic site.|NCI|N|
C3160888|A gastric adenocarcinoma that has spread from its original site of growth to another anatomic site.|NCI|N|
C3160897|Constipation that results from, or follows, treatment with an opioid or opioid-containing medication.|NCI|N|
C3161104|Adult pulmonary Langerhans Cell Histiocytosis (PLCH) is a rare histiocytic lung disease characterized by the accumulation of Langerhans and other inflammatory cells in the small airways, resulting in the formation of nodular inflammatory lesions.|MONDO|N|
C3161105|Neuroendocrine cell hyperplasia of infancy (NCHI) is a non-lethal pediatric form of interstitial lung disease (ILD, see this term) characterized by tachypnea without respiratory failure.|ORDO|N|
C3161106|Pulmonary interstitial glycogenosis (PIG) is a rare non-lethal pediatric form of interstitial lung disease (ILD, see this term).|ORDO|N|
C3161174|Hemoglobin H disease is a subtype of alpha-thalassemia (see 604131) in which patients have compound heterozygosity for alpha(+)-thalassemia, caused by deletion of one alpha-globin gene, and for alpha(0)-thalassemia, caused by deletion in cis of 2 alpha-globin genes (summary by Lal et al., 2011). When 3 alpha-globin genes become inactive because of deletions with or without concomitant nondeletional mutations, the affected individual has only 1 functional alpha-globin gene. These people usually have moderate anemia and marked microcytosis and hypochromia. In affected adults, there is an excess of beta-globin chains within erythrocytes that will form beta-4 tetramers, also known as hemoglobin H (summary by Chui et al., 2003).
Hb H disease is usually caused by the combination of alpha(0)-thalassemia with deletional alpha(+)-thalassemia, a combination referred to as 'deletional' Hb H disease. In a smaller proportion of patients, Hb H disease is caused by an alpha(0)-thalassemia plus an alpha(+)-thalassemia point mutation or small insertion/deletion. Such a situation is labeled 'nondeletional' Hb H disease. Patients with nondeletional Hb H disease are usually more anemic, more symptomatic, more prone to have significant hepatosplenomegaly, and more likely to require transfusions (summary by Lal et al., 2011).|OMIM|N|
C3161192|Vitreomacular traction is characterized by anomalous posterior vitreous detachment accompanied by anatomic distortion of the fovea, which may include pseudocysts, macular schisis, cystoid macular edema, and subretinal fluid. Vitreomacular traction can be subclassified by the diameter of vitreous attachment to the macular surface as measured by OCT, with attachment of 1500 micrometers or less defined as focal and attachment of more than 1500 micrometers as broad.|HPO|N|
C3161330|Profound mental retardation is defined as an intelligence quotient (IQ) below 20.|HPO|N|
C3163616|Loss of blood from the circulation, either internally or externally.|NCI|N|
C3163620|A disorder characterized by a blood pressure that is below the normal expected for an individual in a given environment.|NCI|N|
C3163622|A WHO grade III meningioma characterized by the predominance of a perivascular pseudopapillary pattern.|NCI|N|
C3163625|Hemorrhage from the vagina that may range from light spotting to heavy flow during pregnancy.|NCI|N|
C3163649|A hormone producing or non-producing pituitary gland adenoma or carcinoma, not associated with a hormonal syndrome.|MONDO|N|
C3163798|An increased susceptibility to lower respiratory tract infections as manifested by a history of recurrent lower respiratory tract infections.|HPO|N|
C3163801|An anomaly of the arch of aorta.|HPO|N|
C3163804|A peritoneum cancer that is located in the inside of the abdomen.|MONDO|N|
C3163843|A chondrosarcoma (disease) that involves the bone tissue.|MONDO|N|
C3163857|Sleep disorder in which one hears a loud noise or explosive crashing sound in their head. The sound is not real or heard by anyone else. The episode typically happens suddenly, either when beginning to fall asleep or when waking up during the night.|HPO|N|
C3163894|A venous pouch within the left ventricular wall, with a neck opening into the coronary sinus.|HPO|N|
C3163916|Pulmonary artery coming from patent ductus arteriosus is a rare, congenital, non-syndromic heart malformation characterized by the presence of a single (or a double) patent ductus arteriosus which associates one or both pulmonary arteries originating from it. Manifestations are variable, frequently presenting with neonatal cyanosis, severe progressive hypoxia, persistent pulmonary hypertension, increased susceptibility to pulmonary infections, and thoracic asymmetry resulting from asymmetric lung volumes.|ORDO|N|
C3164279|A chordoma (disease) that involves the fused sacrum.|MONDO|N|
C3164330|A rare vascular anomaly characterized by a congenital anomalous connection between the inferior vena cava and the left atrium. Clinical manifestations depend on the presence and nature of additional cardiac defects and include cyanosis, dyspnea, failure to thrive, clubbing of fingers and toes, and potentially heart failure.|ORDO|N|
C3164332|A developmental defect characterized by the lack of aortic valve cusps (leaflets). There may be remnants of the aortic valve in form of a nonobstructive fibrous ridge or rudimentary leaflets or sinuses of Valsalva.|HPO|N|
C3164374|Any structural abnormality of the pulmonary valve.|HPO|N|
C3164377|Both lungs have three lobes. Normally, the left lung has two lobes, whereas the right lung has three lobes.|HPO|N|
C3164417|A carcinoma that involves the mouth floor.|MONDO|N|
C3164429|Common atrium without defining morphologic features.|HPO|N|
C3164445|Any abnormality of the aortic valve.|HPO|N|
C3164456|A primary or metastatic malignant neoplasm that affects the lung parenchyma, bronchial tree, or trachea. Representative examples include lung carcinoma, carcinoid tumor, lung lymphoma, lung sarcoma, and tracheal carcinoma.|NCI|N|
C3164501|A rare, non-syndromic, posterior fossa malformation characterized by a cisterna magna that measures above 15 mm in length, 5 mm in height and 20 mm in width (or greater than 10 mm in fetuses) associated with a normal cerebellar vermis and absence of hydrocephalus. The majority of patients are asymptomatic; however, variable neurodevelopmental outcomes, including delayed speech and language development, motor development delay, visiospatial perception difficulties, and attention problems, has been observed in some patients.|ORPHANET|N|
C3164517|A group of rare congenital mitral malformations characterized by anomalies of the chordae tendineae and papillary muscles. This comprises anomalous mitral arcade or hammock valve (due to thickened and extremely short chordae tendineae), straddling valve (abnormal attachment of the chordae tendineae to both ventricles), and parachute valve (unifocal attachment of the chordae tendineae to a single or fused papillary muscle), resulting in an incompetent valve with regurgitation and/or stenosis and impaired left ventricular inflow, potentially leading to heart failure. In most cases, other cardiac anomalies are found in association.|ORDO|N|
C3164625|Sarcoma involving the organs and structures of the pelvis.|NCI|N|
C3164647|Accessory entire right upper lobe bronchial system originating from the trachea with absent anatomically normal upper lobe bronchus.|HPO|N|
C3164675|Pulmonary vein varix (PVV), refers to a localized dilatation of a pulmonary vein. PVV is a rare condition and can be congenital or acquired. PVV typically occur at the confluence of the veins adjacent to the left atrium. PVVs are sometimes classified into three morphological types|HPO|N|
C3164746|A carcinoma that involves the pharynx.|MONDO|N|
C3164780|Presence of either fever, hypotension, or oliguria in a patient who meets the following three criteria: blood was not cultured or no microorganism was isolated; there was no apparent infection at another site; and appropriate antimicrobial therapy for sepsis was initiated.|SNOMEDCT_US|N|
C3164789|A carcinoma that involves the urethra.|MONDO|N|
C3165028|A cardiovascular malformation associated with narrowing of the outflow tract of the right ventricle immediately below the pulmonary valve.|HPO|N|
C3165062|A compression of ILIAC VEIN that results in a decreased flow in the vein and in the left LOWER EXTREMITY due to a vascular malformation. It may result in left leg EDEMA, pain, iliofemoral DEEP VENOUS THROMBOSIS and POSTTHROMBOTIC SYNDROME. Compression of the left common ILIAC VEIN by the right common ILIAC ARTERY against the underlying fifth LUMBAR VERTEBRA is the typical underlying malformation.|MONDO|N|
C3165091|A double outlet right ventricle with a subaortic ventricular septal defect (a hole between the two bottom chambers (ventricles) of the heart), that extends anterosuperiorly and are closely related to the pulmonary artery as well, are considered to be doubly committed. There is associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches.|HPO|N|
C3165130|A ventricular septal defect that lies beneath the semilunar valve(s) in the conal or outlet septum.|HPO|N|
C3165162|A rare, congenital anomaly of the tricuspid subvalvular apparatus characterized by aberrant tendinous chords, which insert at the clear zone of the leaflet instead of its free edge and connect to the endocardium instead of the papillary muscles. Resulting tethering of one or more tricuspid leaflets leads to their impaired mobility and tricuspid regurgitation. Association with other congenital cardiac anomalies has been reported.|ORDO|N|
C3165203|A rare, congenital, mitral valve malformation characterized by hypoplastic annulus which usually appears within a complete mitral valve hypoplasia, causing mitral valve stenosis. Association with other cardiac malformation is common, including coarctation of the aorta, aortic valve stenosis, Shone complex and hypoplastic left heart syndrome.|ORDO|N|
C3165247|A difficult or dangerous health situation that needs urgent attention.|SNOMEDCT_US|N|
C3165508|A response indicating that an individual has not experienced any fatigue.|NCI|N|
C3165526|Thyroid hormone deficiency present at birth and caused by iodine deficiency.|NCI|N|
C3172256|A measurement of the total number of birth events experienced by a female.|NCI|N|
C3178766|Dull or sharp aching pain caused by stimulated NOCICEPTORS due to tissue injury, inflammation or diseases. It can be divided into somatic or tissue pain and VISCERAL PAIN.|MSH|N|
C3178770|Compression of the left renal vein between the superior mesenteric artery and the abdominal aorta causing an increase in the pressure gradient between the left renal vein and the inferior vena cava. The thin septae between the veins and the collecting system in the renal fornices rupture, with resultant left sided haematuria. Most symptomatic cases present in the third or fourth decade of life, with women being more commonly affected than men. Three types of renal nutcracker syndrome have been defined: anterior nutcracker syndrome, posterior nutcracker syndrome and combined nutcracker syndrome.|SNOMEDCT_US|N|
C3178777|Necrotic jaws or other maxillofacial skeleton necrosis associated with bisphosphonate use (see BISPHOSPHONATES). Injury, dental procedures, and trauma can trigger the necrotic process.|MSH|N|
C3178778|Non-pathological heart enlargement and other remodeling in cardiac morphology and electrical circuitry found in individuals who participate in intense repeated exercises.|MSH|N|
C3178781|Loss of vascular ELASTICITY due to factors such as AGING; and ARTERIOSCLEROSIS. Increased arterial stiffness is one of the RISK FACTORS for many CARDIOVASCULAR DISEASES.|MSH|N|
C3178782|The elastic properties of the aorta allow the aorta to store half of the cardiac ejected blood volume per beat, whereby aortic recoil during diastole pushes the remaining stored volume forward into the peripheral circulation, a phenomenon known as the Windkessel function. Aortic stiffness occurs as the elastic fibers within the arterial wall become disrupted due to mechanical stress (with age or due to other factors). Aortic stiffness refers to a reduction in the elasticity of the aorta, which is associated with an elevated pulse pressure, increased wave reflection, and often hypertension.|HPO|N|
C3178789|A condition in which the nerves register normal stimuli (lack of tissue injury) as pain, resulting in feelings of intense pain with even minor sensory input.|NCI|N|
C3178791|A reaction that severs one of the sugar-phosphate linkages of the phosphodiester backbone of RNA. It is catalyzed enzymatically, chemically, or by radiation. Cleavage may be exonucleolytic, or endonucleolytic.|MSH|N|
C3178801|A stroke related to a small infarct (2-20 mm in diameter) in the deep cerebral white matter, basal ganglia, or pons, that is presumed to result from the occlusion of a single small perforating artery supplying the subcortical areas of the brain.|HPO|N|
C3178805|Heterotaxy syndrome is a condition in which the internal organs are abnormally arranged in the chest and abdomen. The term "heterotaxy" is from the Greek words "heteros," meaning "other than," and "taxis," meaning "arrangement." Individuals with this condition have complex birth defects affecting the heart, lungs, liver, spleen, intestines, and other organs.\n\nIn the normal body, most of the organs in the chest and abdomen have a particular location on the right or left side. For example, the heart, spleen, and pancreas are on the left side of the body, and most of the liver is on the right. This normal arrangement of the organs is known as "situs solitus." Rarely, the orientation of the internal organs is completely flipped from right to left, a situation known as "situs inversus." This mirror-image orientation usually does not cause any health problems, unless it occurs as part of a syndrome affecting other parts of the body. Heterotaxy syndrome is an arrangement of internal organs somewhere between situs solitus and situs inversus; this condition is also known as "situs ambiguus." Unlike situs inversus, the abnormal arrangement of organs in heterotaxy syndrome often causes serious health problems.\n\nHeterotaxy syndrome can alter the structure of the heart, including the attachment of the large blood vessels that carry blood to and from the rest of the body. It can also affect the structure of the lungs, such as the number of lobes in each lung and the length of the tubes (called bronchi) that lead from the windpipe to the lungs. In the abdomen, the condition can cause a person to have no spleen (asplenia) or multiple small, poorly functioning spleens (polysplenia). The liver may lie across the middle of the body instead of being in its normal position to the right of the stomach. Some affected individuals also have intestinal malrotation, which is an abnormal twisting of the intestines that occurs in the early stages of development before birth.\n\nThe severity of heterotaxy syndrome varies depending on the specific abnormalities involved. Some affected individuals have only mild health problems related to the condition. At the other end of the spectrum, heterotaxy syndrome can be life-threatening in infancy or childhood, even with treatment.\n\nDepending on the organs involved, signs and symptoms of heterotaxy syndrome can include a bluish appearance of the skin or lips (cyanosis, which is due to a shortage of oxygen), breathing difficulties, an increased risk of infections, and problems with digesting food. The most serious complications are generally caused by critical congenital heart disease, a group of complex heart defects that are present from birth. Biliary atresia, a problem with the bile ducts in the liver, can also cause severe health problems in infancy.|MedlinePlus Genetics|N|
C3178806|Right atrial isomerism is characterized by bilateral triangular, morphologically right atrial, appendages, both joining the atrial chamber along a broad front with internal terminal crest.|HPO|N|
C3178807|In left atrial isomerism there is a bilateral small finger-shaped morphologically left atrial appendage joining the atrial chamber along a narrow front without an internal terminal crest.|HPO|N|
C3178811|Phenomenon where increased BLOOD PRESSURE readings taken in non-clinical settings (e.g., HOME BLOOD PRESSURE MONITORING) do not replicate in clinical settings.|MSH|N|
C3178817|Ocular manifestations secondary to various NEOPLASMS in which antibodies to antigens of the primary tumor cross-react with ocular antigens. This autoimmune response often leads to visual loss and other ocular dysfunctions.|MSH|N|
C3178846|The frequency of mutations in a sample.|NCI|N|
C3178851|Infections with bacteria of the genus ALIIVIBRIO.|MSH|N|
C3178870|Various physiological or molecular disturbances that impair ENDOPLASMIC RETICULUM function. It triggers many responses, including UNFOLDED PROTEIN RESPONSE, which may lead to APOPTOSIS; and AUTOPHAGY.|MSH|N|
C3178892|A disorder affecting the muscles of the pelvic floor.|NCI|N|
C3178945|CNS infections caused by neurotropic dematiaceous fungi that contain melanin in their cell walls. The infections often result in BRAIN ABSCESS; ENCEPHALITIS; and MENINGITIS in patients who are often immunocompetent. The common causative fungi include members Cladophialophora bantiana, Exophiala dermatitidis, Rhinocladiella mackenziei, and Ochroconis gallopavum. R. mackenziei infection is seen almost exclusively in patients from the MIDDLE EAST.|MSH|N|
C3178956|The shifting and or tilting of implanted artificial lens resulting in impaired vision.|MSH|N|
C3178962|Opportunistic fungal infection by a member of Alternaria genus.|MONDO|N|
C3178984|Impairment in mathematical abilities secondary to a damage to a specific region of the brain often caused by a stroke, tumor, or trauma.|MSH|N|
C3178997|A degradation process whereby incorrectly folded proteins are selectively transported out of the ENDOPLASMIC RETICULUM and into the CYTOSOL. The misfolded proteins are subsequently ubiquitinated and degraded by the PROTEASOME.|MSH|N|
C3178999|Malalignment of a bone in which its head and neck is rotated excessively forward or inward.|MSH|N|
C3179000|Attachment of a bone in which its head and neck is rotated excessively backward.|MSH|N|
C3179239|The spectrum of CLCN7-related osteopetrosis includes infantile malignant CLCN7-related autosomal recessive osteopetrosis (ARO), intermediate autosomal osteopetrosis (IAO), and autosomal dominant osteopetrosis type II (ADOII; Albers-Schönberg disease). ARO. Onset is at birth. Findings may include: fractures; reduced growth; sclerosis of the skull base (with or without choanal stenosis or hydrocephalus) resulting in optic nerve compression, facial palsy, and hearing loss; absence of the bone marrow cavity resulting in severe anemia and thrombocytopenia; dental abnormalities, odontomas, and risk for mandibular osteomyelitis; and hypocalcemia with tetanic seizures and secondary hyperparathyroidism. Without treatment maximal life span in ARO is ten years. IAO. Onset is in childhood. Findings may include: fractures after minor trauma, characteristic skeletal radiographic changes found incidentally, mild anemia, and occasional visual impairment secondary to optic nerve compression. Life expectancy in IAO is usually normal. ADOII. Onset is usually late childhood or adolescence. Findings may include: fractures (in any long bone and/or the posterior arch of a vertebra), scoliosis, hip osteoarthritis, and osteomyelitis of the mandible or septic osteitis or osteoarthritis elsewhere. Cranial nerve compression is rare.|GeneReviews|N|
C3179244|GRANULOCYTE morphologic changes similar to the cells in familial Pelger-Huet anomoly. Granulocytes have abnormal bilobular morphology with hypercondensation due to drug therapy or secondary to diseases such as MYELODYSPLASTIC SYNDROMES and ACUTE MYELOID LEUKEMIA.|MSH|N|
C3179349|A gastrointestinal stromal tumor that is characterized by large size (diameter greater than 10 cm for gastric localization and greater than 5 cm for intestinal localization) or more than 5 mitotic figures per 50 high power fields.|NCI|N|
C3179455|Niemann-Pick disease type C (NPC) is a slowly progressive lysosomal disorder whose principal manifestations are age dependent. The manifestations in the perinatal period and infancy are predominantly visceral, with hepatosplenomegaly, jaundice, and (in some instances) pulmonary infiltrates. From late infancy onward, the presentation is dominated by neurologic manifestations. The youngest children may present with hypotonia and developmental delay, with the subsequent emergence of ataxia, dysarthria, dysphagia, and, in some individuals, epileptic seizures, dystonia, and gelastic cataplexy. Although cognitive impairment may be subtle at first, it eventually becomes apparent that affected individuals have a progressive dementia. Older teenagers and young adults may present predominantly with apparent early-onset dementia or psychiatric manifestations; however, careful examination usually identifies typical neurologic signs.|GeneReviews|N|
C3179508|Hypoplastic/small or absent thumb.|HPO|N|
C3180937|A heterozygous deletion of chromosome 15q11.2 may increase the susceptibility to neuropsychiatric or neurodevelopmental problems, including delayed psychomotor development, speech delay, autism spectrum disorder, attention deficit-hyperactivity disorder, obsessive-compulsive disorder, and possibly seizures (summary by Doornbos et al., 2009 and Burnside et al., 2011).
See also chromosome 15q11.2 duplication syndrome (608636).|OMIM|N|
C3202971|Formation of a non-infectious THROMBUS, referred to as vegetation, on previously undamaged ENDOCARDIUM. It usually occurs as a complication of connective-tissue diseases and cancers because of the associated hypercoagulable state (see THROMBOPHILIA).|MSH|N|
C3203027|The score derived from universally embraced prostate cancer grading system developed by Dr. Donald F. Gleason in 1977. The system provides a reproducible description of the glandular architecture of prostate tissue to which a pathologist assigns a score depending primarily on the microscopic patterns of cancerous glands and cell morphology. The system correlates well with behavior at the extremes: Gleason 1+1 tumors are the most well differentiated, slowly growing and rarely spread; Gleason 4+5 tumors are the most poorly differentiated, often widely metastatic at the time of diagnosis. In the commoner intermediate grade tumors, however, behavior is extremely variable.|NCI|N|
C3203102|Idiopathic pulmonary arterial hypertension (IPAH) is a sporadic form of pulmonary arterial hypertension (PAH, see this term) characterized by elevated pulmonary arterial resistance leading to right heart failure. IPAH is progressive and potentially fatal and not associated with an underlying condition or family history of PAH.|ORDO|N|
C3203357|Tuberculosis of the bone.|NCI|N|
C3203358|A reduction in the amount of air transported into the pulmonary alveoli by breathing, leading to hypercapnia (increase in the partial pressure of carbon dioxide).|HPO|N|
C3203360|A pathologic process consisting of the formation and discharge of pus.|NCI|N|
C3203483|A benign cartilaginous tumors of the lung.|HPO|N|
C3203528|An decreased concentration of magnesium the urine.|HPO|N|
C3203533|An emotionally painful, shocking, stressful, and sometimes life-threatening experience. It can result from witnessing distressing events such as natural disasters, physical or sexual abuse, and terrorism or other acts of violence. (https://www.nimh.nih.gov/health/)|MSH|N|
C3203547|A spectrum of chronic inflammatory conditions affecting the axial joints (e.g., SPINE), characterized by pain, stiffness of joints (ANKYLOSIS), reduced mobility and inflammation. When joint inflammation and damage are visible on regular X-rays it is called ANKYLOSING SPONDYLITIS; otherwise it is referred to as NON-RADIOGRAPHIC AXIAL SPONDYLOARTHRITIS. HLA-B27 ANTIGEN is a biomarker and IL-23/IL-17 pathway a potential therapeutic target for axial and other related spondyloarthritis.|MSH|N|
C3203607|The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Amphiphysin.|HPO|N|
C3203639|A neuroendocrine carcinoma that has spread from its original site of growth to another anatomic site.|NCI|N|
C3203653|A mass-forming lesion that occurs in the pancreas, submandibular glands, lacrimal glands, lymph nodes, and hepatobiliary tract. It is characterized by the presence of marked tissue sclerosis and infiltration by numerous plasma cells. The plasma cells show immunohistochemical staining for IgG4 and the serum IgG4 levels are often increased.|NCI|N|
C3203657|An autoimmune disease characterized by sudden onset of photopsias and scotomata in patients with no family history of retinitis pigmentosa, followed by visual field and central vision loss.|MONDO|N|
C3203727|Presence of air or gas within the spinal canal cavity (EPIDURAL SPACE; or SUBARACHNOID SPACE). It may result from traumatic injuries, emphysema, infection and other conditions. It can also develop as a complication of various SURGICAL PROCEDURES (e.g., MYELOGRAPHY).|MSH|N|
C3203733|A condition in which there is musculoskeletal chest pain characterized by brief, sharp discomfort associated with inspiration. (ACC-AHA)|NCI|N|
C3241919|A rare skin disease characterized most typically by targetoid papules with concentric color variation symmetrically distributed on the extensor surfaces of the extremities, accompanied by mucosal involvement (in particular the oral mucosa) in the form of initial erythema with edema, progressing to superficial erosions with pseudomembrane formation. Grouping of lesions around the elbows and knees and edema of the nail folds may also be observed. The condition is commonly proceeded by prodromal symptoms of malaise, fever, and myalgias, and is usually self-limiting, although recurrent disease is seen in a subset of patients.|ORDO|N|
C3241936|Pulmonary edema that is not a result of cardiac dysfunction.|NCI|N|
C3241937|Fatty replacement and damage to the hepatocytes not related to alcohol use. It may lead to cirrhosis and liver failure.|NCI|N|
C3241958|A disorder that affects the muscle tissue of the heart. Representative examples include myocardial infarction, myocarditis, and cardiomyopathy.|NCI|N|
C3241961|A miliaria that is characterized by clear, superficial, noninflammed, subcorneal vesicles that easily rupture when rubbed and is located in the stratum corneum.|MONDO|N|
C3241966|An adult who has smoked 100 cigarettes in his or her lifetime and who currently smokes cigarettes. Includes daily smokers and non-daily smokers (also known as occasional smokers).|NCI|N|
C3242218|**Description:**The information was recorded incorrectly or was recorded in the wrong record.CHAR(13)|HL7V3.0|N|
C3245525|Patients with familial renal glucosuria have decreased renal tubular resorption of glucose form the urine in the absence of hyperglycemia and any other signs of tubular dysfunction. Glucosuria in these patients can range from less than 1 to over 150 g/1.73 m(2) per day (Santer and Calado, 2010).|OMIM|N|
C3250443|Myotonic dystrophy type 1 (DM1) is a multisystem disorder that affects skeletal and smooth muscle as well as the eye, heart, endocrine system, and central nervous system. The clinical findings, which span a continuum from mild to severe, have been categorized into three somewhat overlapping phenotypes: mild, classic, and congenital. Mild DM1 is characterized by cataract and mild myotonia (sustained muscle contraction); life span is normal. Classic DM1 is characterized by muscle weakness and wasting, myotonia, cataract, and often cardiac conduction abnormalities; adults may become physically disabled and may have a shortened life span. Congenital DM1 is characterized by hypotonia and severe generalized weakness at birth, often with respiratory insufficiency and early death; intellectual disability is common.|GeneReviews|N|
C3251580|Pancytopenia caused by exposure to certain drugs.|NCI|N|
C3251817|A squamous cell carcinoma characterized by a papillary growth pattern, hyperkeratosis, and koilocytosis.|NCI|N|
C3251820|depression in women occurring usually shortly after childbirth|CHV|N|
C3257803|Tearing eyes; a condition caused either by tear overproduction or impaired drainage of the tear duct. Causes of tear overproduction include eye irritation (e.g., eye infection, foreign body in the eye), headache, pain reaction, allergies, sinusitis, and injury to the eye.|NCI|N|
C3257860|A question about how frequently an individual''s voice difficulties restrict their personal and social life.|NCI|N|
C3257864|A question about how frequently an individual''s voice makes them feel handicapped.|NCI|N|
C3257866|A question about how frequently an individual''s voice problem causes them to lose income.|NCI|N|
C3257867|A question about how frequently an individual''s voice problem upsets them.|NCI|N|
C3257980|A symptom that is not among those been previously noted.|NCI|N|
C3258223|A question about how frequently the clarity of an individual''s voice is unpredictable.|NCI|N|
C3260755|A question about how frequently an individual feels as though they have to strain to produce voice.|NCI|N|
C3260763|A question about how frequently an individual feels left out of conversation because of their voice.|NCI|N|
C3262229|The first significant event which ultimately led to death.|NCI|N|
C3262233|The second significant event which ultimately led to death.|NCI|N|
C3263685|An abnormal finding indicating that the level of a particular hormone is not within the expected normal values.|NCI|N|
C3263719|A spectrum of neoplastic changes that occur in the conjunctiva and range from melanocytic hyperplasia through degrees of atypia to melanoma in situ. The lesions are generally unilateral but often multifocal and appear as flat, irregular brown discolorations of the conjunctiva. They usually affect middle-aged and elderly Caucasians. (WHO 2018)|NCI|N|
C3264002|Intractable juvenile myoclonic epilepsy which is not associated with an acute, prolonged epileptic crisis.|NCI|N|
C3264370|Typical atrial flutter is an organized atrial tachycardia. It can also be defined as a macroreentrant tachycardia confined to the right atrium. This arrhythmia has a 200-260 ms cycle length, although it may fluctuate depending on patient's previous treatment or ablation, congenital heart disease, etc. Ventricular rate response will be limited by the atrioventricular node conductions, usually presenting a 2:1 or 3:1 response, during atrial flutter. Typical (counter clockwise) flutter is associated with the common flutter pattern|HPO|N|
C3264372|A broad spectrum of other macroreentrant tachycardias in which the wave front does not travel around the tricuspid annulus. Atypical atrial flutter originates from the left atrium or areas in the right atrium (such as surgical scars) and has a variable appearance on ECG in regards to the flutter waves.|SNOMEDCT_US|N|
C3265932|A cancer that involves the hindlimb long bone.|MONDO|N|
C3266021|A type of astigmatism in which an unequal curvature of the cornea and some cases additionally of the lens causes one meridian of the eye to be hyperopic (farsighted) and a second meridian that is perpendicular to the first to be myopic (nearsighted).|HPO|N|
C3266022|Astigmatism in which the refractive power of the vertical meridian is the greatest.|HPO|N|
C3266026|A rare autoimmune polyendocrinopathy characterized by autoimmune activity against an endocrine organ in combination with at least one more endocrine or non-endocrine organ. Typical autoimmune diseases occurring in this type include insulin-requiring diabetes, pernicious anemia, alopecia, vitiligo, or myasthenia gravis, but not Addison disease, thyroid disease, or hypoparathyroidism.|ORDO|N|
C3266060|The multicystic variant of lateral periodontal cyst. (WHO 2017)|NCI|N|
C3266076|The presence of a cleft (gap, opening, or groove) in the oral cavity, including cleft of the upper lip and/or cleft of the palate. Cleft of the upper lip is visible as a groove or fissure in the lip, most frequently due to a congenital failure of the maxillary and median nasal processes to fuse. Cleft palate is characterized by a grooved depression or fissure in the roof of the mouth, most often resulting from a congenital failure of the palate to fuse properly. Clefts of the lip and palate can occur individually or together. It is preferable to code each defect separately.|HPO|N|
C3266102|Nephrotic syndrome, occurring in the pediatric population, in which proteinuria does not normalize with administration of steroids; this condition is unresponsive to a minimum of four weeks administration of oral corticosteroids.|NCI|N|
C3266136|Indicates a person who has smoked at least 100 cigarettes in his or her lifetime and who currently smokes every day.|NCI|N|
C3266164|A spinal disease that is characterized by severe kyphotic deformity of the cervicothoracic spine and by severe weakness of the cervical paraspinal muscles that results in the passively correctable chin-on-chest deformity. This syndrome is defined by weakness of neck extensor muscles against gravity with or without weakness of neck flexor muscles.|MONDO|N|
C3266209|Potential for subsequent admission to a hospital or other health care institution for treatment|PNDS|N|
C3266262|Two or more concurrent chronic physical, mental, or behavioral health problems in an individual.|MSH|N|
C3266267|Supernumerary deciduous mandibular left lateral incisor tooth; Universal designation NSCHAR(13)|HL7V3.0|N|
C3266268|Supernumerary deciduous mandibular left first molar tooth; Universal designation LSCHAR(13)|HL7V3.0|N|
C3266269|Supernumerary deciduous mandibular right central incisor tooth; Universal designation PSCHAR(13)|HL7V3.0|N|
C3266270|Supernumerary deciduous mandibular right lateral incisor tooth; Universal designation QSCHAR(13)|HL7V3.0|N|
C3266272|Supernumerary deciduous mandibular left canine tooth; Universal designation MSCHAR(13)|HL7V3.0|N|
C3266273|Supernumerary deciduous mandibular right canine tooth; Universal designation RSCHAR(13)|HL7V3.0|N|
C3266274|Supernumerary deciduous mandibular right first molar tooth; Universal designation SSCHAR(13)|HL7V3.0|N|
C3266275|Supernumerary deciduous mandibular left second molar tooth ; Universal designation KSCHAR(13)|HL7V3.0|N|
C3266276|Supernumerary deciduous mandibular right second molar tooth; Universal designation TSCHAR(13)|HL7V3.0|N|
C3266277|Supernumerary deciduous mandibular left central incisor tooth; Universal designation OSCHAR(13)|HL7V3.0|N|
C3266278|Supernumerary deciduous maxillary left lateral incisor tooth; Universal designation GSCHAR(13)|HL7V3.0|N|
C3266279|Supernumerary deciduous maxillary right lateral incisor tooth; Universal designation DSCHAR(13)|HL7V3.0|N|
C3266280|Supernumerary deciduous maxillary right canine tooth; Universal designation CSCHAR(13)|HL7V3.0|N|
C3266282|Supernumerary deciduous maxillary right central incisor tooth; Universal designation ESCHAR(13)|HL7V3.0|N|
C3266284|Supernumerary deciduous maxillary left second molar tooth; Universal designation JSCHAR(13)|HL7V3.0|N|
C3266285|Supernumerary deciduous maxillary right first molar tooth; Universal designation BSCHAR(13)|HL7V3.0|N|
C3266286|Supernumerary deciduous maxillary left first molar tooth; Universal designation ISCHAR(13)|HL7V3.0|N|
C3266287|Supernumerary deciduous maxillary right second molar tooth; Universal designation ASCHAR(13)|HL7V3.0|N|
C3266288|Supernumerary deciduous maxillary left central incisor tooth; Universal designation FSCHAR(13)|HL7V3.0|N|
C3266289|Supernumerary deciduous maxillary left canine tooth; Universal designation HSCHAR(13)|HL7V3.0|N|
C3266290|Supernumerary permanent mandibular left second molar tooth; Universal designation 68CHAR(13)|HL7V3.0|N|
C3266291|Supernumerary permanent mandibular left lateral incisor tooth; Universal designation 73CHAR(13)|HL7V3.0|N|
C3266292|Supernumerary permanent mandibular left third molar tooth; Universal designation 67CHAR(13)|HL7V3.0|N|
C3266293|Supernumerary permanent mandibular right second molar tooth; Universal designation 81CHAR(13)|HL7V3.0|N|
C3266295|Supernumerary permanent mandibular right third molar tooth; Universal designation 82CHAR(13)|HL7V3.0|N|
C3266296|Supernumerary permanent mandibular right second premolar tooth; Universal designation 79CHAR(13)|HL7V3.0|N|
C3266297|Supernumerary permanent mandibular left first molar tooth; Universal designation 69CHAR(13)|HL7V3.0|N|
C3266298|Supernumerary permanent mandibular left canine tooth; Universal designation 72CHAR(13)|HL7V3.0|N|
C3266299|Supernumerary permanent mandibular left first premolar tooth ; Universal designation 71CHAR(13)|HL7V3.0|N|
C3266300|Supernumerary permanent mandibular right first premolar tooth; Universal designation 78CHAR(13)|HL7V3.0|N|
C3266301|Supernumerary permanent mandibular left second premolar tooth; Universal designation 70CHAR(13)|HL7V3.0|N|
C3266302|Supernumerary permanent mandibular left central incisor tooth; Universal designation 74CHAR(13)|HL7V3.0|N|
C3266303|Supernumerary permanent mandibular right first molar tooth; Universal designation 80CHAR(13)|HL7V3.0|N|
C3266304|Supernumerary permanent mandibular right canine tooth; Universal designation 77CHAR(13)|HL7V3.0|N|
C3266306|Supernumerary permanent mandibular right central incisor tooth; Universal designation 75CHAR(13)|HL7V3.0|N|
C3266307|Supernumerary permanent mandibular right lateral incisor tooth; Universal designation 76CHAR(13)|HL7V3.0|N|
C3266308|Supernumerary permanent maxillary right third molar tooth; Universal designation 51CHAR(13)|HL7V3.0|N|
C3266309|Supernumerary permanent maxillary left central incisor tooth; Universal designation 59CHAR(13)|HL7V3.0|N|
C3266310|Supernumerary permanent maxillary right central incisor tooth; Universal designation 58CHAR(13)|HL7V3.0|N|
C3266311|Supernumerary permanent maxillary right second premolar tooth; Universal designation 54CHAR(13)|HL7V3.0|N|
C3266312|Supernumerary permanent maxillary right lateral incisor tooth; Universal designation 57CHAR(13)|HL7V3.0|N|
C3266313|Supernumerary permanent maxillary left third molar tooth; Universal designation 66CHAR(13)|HL7V3.0|N|
C3266314|Supernumerary permanent maxillary right first molar tooth; Universal designation 53CHAR(13)|HL7V3.0|N|
C3266315|Supernumerary permanent maxillary right canine tooth; Universal designation 56CHAR(13)|HL7V3.0|N|
C3266316|Supernumerary permanent maxillary left canine tooth; Universal designation 61CHAR(13)|HL7V3.0|N|
C3266317|Supernumerary permanent maxillary left second molar tooth; Universal designation 65CHAR(13)|HL7V3.0|N|
C3266318|Supernumerary permanent maxillary right second molar tooth; Universal designation 52CHAR(13)|HL7V3.0|N|
C3266319|Supernumerary permanent maxillary left first premolar tooth; Universal designation 62CHAR(13)|HL7V3.0|N|
C3266320|Supernumerary permanent maxillary left lateral incisor tooth; Universal designation 60CHAR(13)|HL7V3.0|N|
C3266321|Supernumerary permanent maxillary left first molar tooth; Universal designation 64CHAR(13)|HL7V3.0|N|
C3266322|Supernumerary permanent maxillary right first premolar tooth; Universal designation 55CHAR(13)|HL7V3.0|N|
C3266323|Supernumerary permanent maxillary left second premolar tooth; Universal designation 63CHAR(13)|HL7V3.0|N|
C3266630|A fracture of the thoracic vertebra that is caused by a loss of bone mass (osteoporosis) that occurs as part of aging.|HPO|N|
C3266663|Characterised by irregular macular hyperpigmentation of the oral mucosa.|SNOMEDCT_US|N|
C3266665|Occlusal scheme that requires localised adjunctive therapy.|SNOMEDCT_US|N|
C3266666|Occlusal scheme that requires reestablishment, but without any change in vertical dimension of occlusion.|SNOMEDCT_US|N|
C3266667|Occlusal scheme that requires reestablishment with changes in the vertical dimension of occlusion.|SNOMEDCT_US|N|
C3266669|Occlusal scheme in dentate patient that requires localised adjunctive therapy.|SNOMEDCT_US|N|
C3266670|Occlusal scheme in dentate patient that requires reestablishment, but without any change in vertical dimension of occlusion.|SNOMEDCT_US|N|
C3266671|Occlusal scheme in dentate patient that requires reestablishment with changes in the vertical dimension of occlusion.|SNOMEDCT_US|N|
C3266672|Occlusal scheme in partially dentate patient that requires localised adjunctive therapy.|SNOMEDCT_US|N|
C3266673|Occlusal scheme in partially dentate patient that requires reestablishment, but without any change in vertical dimension of occlusion.|SNOMEDCT_US|N|
C3266674|Occlusal scheme in partially dentate patient that requires reestablishment with changes in the vertical dimension of occlusion.|SNOMEDCT_US|N|
C3266678|A supernumerary tooth resembling a molar tooth especially in shape.|SNOMEDCT_US|N|
C3266731|HSD10 mitochondrial disease (HSD10MD) most commonly presents as an X-linked neurodegenerative disorder with highly variable severity and age at onset ranging from the neonatal period to early childhood. The features are usually multisystemic, consistent with mitochondrial dysfunction. Some affected males have a severe infantile form associated with cardiomyopathy that may result in death in early childhood, whereas other rare patients may have juvenile onset or even atypical presentations with normal neurologic development. More severely affected males show developmental regression in infancy or early childhood, often associated with early-onset intractable seizures, progressive choreoathetosis and spastic tetraplegia, optic atrophy or retinal degeneration resulting in visual loss, and mental retardation. Heterozygous females may show non-progressive developmental delay and intellectual disability, but may also be clinically normal. Although the diagnosis can be aided by the observation of increased urinary levels of metabolites of isoleucine breakdown (2-methyl-3 hydroxybutyrate and tiglylglycine), there is not a correlation between these laboratory features and the phenotype. In addition, patients do not develop severe metabolic crises in the neonatal period as observed in other organic acidurias, but may show persistent lactic acidosis, most likely reflecting mitochondrial dysfunction (summary by Rauschenberger et al., 2010; Zschocke, 2012).
In a review of this disorder, Zschocke (2012) noted that although it was originally thought to be an inborn error of branched-chain fatty acid and isoleucine metabolism resulting from decreased HSD17B10 dehydrogenase activity (HSD17B10 'deficiency'), subsequent studies have shown that the HSD17B10 gene product has additional functions and also acts as a component of the mitochondrial RNase P holoenzyme, which is involved in mitochondrial tRNA processing and maturation and ultimately mitochondrial protein synthesis. The multisystemic features of HSD10MD most likely result from the adverse effect of HSD17B10 mutations on mitochondrial function, rather than from the effects on the dehydrogenase activity (see PATHOGENESIS).|OMIM|N|
C3266735|A local or systemic infection associated with the use of a hemodialysis catheter.|NCI|N|
C3266843|47,XYY syndrome is characterized by an extra copy of the Y chromosome in each of an individual's cells. Although many people with this condition are taller than average, the chromosomal change sometimes causes no unusual physical features. Most individuals with 47,XYY syndrome have normal production of the male sex hormone testosterone and normal male sexual development, and they are usually able to father children.\n\n47,XYY syndrome is associated with an increased risk of learning disabilities and delayed development of speech and language skills. Affected children can have delayed development of motor skills (such as sitting and walking) or weak muscle tone (hypotonia). Other signs and symptoms of this condition include hand tremors or other involuntary movements (motor tics), seizures, and asthma. Individuals with 47,XYY syndrome have an increased risk of behavioral, social, and emotional difficulties compared with their unaffected peers. These problems include attention-deficit/hyperactivity disorder (ADHD); depression; anxiety; and autism spectrum disorder, which is a group of developmental conditions that affect communication and social interaction.\n\nPhysical features related to 47,XYY syndrome can include increased belly fat, a large head (macrocephaly), unusually large teeth (macrodontia), flat feet (pes planus), fifth fingers that curve inward (clinodactyly), widely spaced eyes (ocular hypertelorism), and abnormal side-to-side curvature of the spine (scoliosis). These characteristics vary widely among people with this condition.|MedlinePlus Genetics|N|
C3266863|Mendelian susceptibility to mycobacterial diseases (MSMD) is a rare immunodeficiency syndrome, characterized by a narrow vulnerability to poorly virulent mycobacteria, such as bacillus Calmette-Guérin (BCG) vaccines and environmental mycobacteria (EM), and defined by severe, recurrent infections, either disseminated or localized.|ORDO|N|
C3266877|A malignant neoplasm that arises from a pre-existing lower grade lesion, or as a result of a primary lesion that has spread to secondary sites, or due to a complication of a cancer treatment.|NCI|N|
C3266898|Disorder with characteristics of varying degrees of deafness and minor defects in structures arising from neural crest, including pigmentation anomalies of eyes, hair, and skin. Clinical manifestations vary within and between families. Frequent clinical manifestations include congenital sensorineural deafness, heterochromic or hypoplastic blue irides, white forelock or early greying of the scalp hair before the age of 30 years. The disease is genetically heterogeneous. To date, mutations in 6 different genes have been identified: PAX3 (2q36.1), MITF (3p14-p13), SNAI2 (8q11.21), SOX10 (22q13.1), EDNRB (13q22.3), and EDN3 (20q13.32).|SNOMEDCT_US|N|
C3266989|A change in the nucleotide sequence of the HRAS gene.|NCI|N|
C3266990|A molecular genetic abnormality that refers to mutation of the c-kit (CD117) proto-oncogene. It is associated with the development of gastrointestinal stromal tumor and gastrointestinal autonomic nerve tumor. It has also been described in acute myeloid leukemias, dysgerminomas, and seminomas.|NCI|N|
C3266992|A change in the nucleotide sequence of the EGFR gene.|NCI|N|
C3267001|A molecular genetic abnormality indicating the presence of a mutation in the PTEN gene on chromosome 10q23.3.|NCI|N|
C3267002|A change in the nucleotide sequence of the UGT1A1 gene.|NCI|N|
C3267032|A disorder of the blood that is present at birth.|NCI|N|
C3267035|An open sore on the surface of the skin of a finger or toe.|HPO|N|
C3267047|A rare form of idiopathic inflammatory myopathy with clinical manifestation of acute or subacute proximal muscle weakness and histopathological features of myocyte necrosis and regeneration without significant inflammation. The main presenting feature is subacute severe symmetrical proximal myopathy with a markedly elevated creatine kinase level. The course is often severe but may be self-limiting and recovery may occur within weeks to months of discontinuing the causative agent, if identified. The disease is thought to be related to an immune response possibly triggered by drug therapy, connective tissue diseases, or cancer. The exact mechanism underling the disorder is not known but some autoantibodies appear to be a likely cause. Malignancy may be involved.|SNOMEDCT_US|N|
C3267126|Virus-associated trichodysplasia spinulosa is a rare infectious skin disease characterized by the development of follicular papules with keratin spicules in various parts of the body, predominantly in the face (e.g. nose, eyebrows, auricles), that is due to polyomavirus infection in immunocompromized patients.|ORDO|N|
C3267179|An innocent murmur with a medium pitched, vibratory character heard at the apex, left lower sternal border, left middle sternal border, and right upper sternal border that disappears or becomes quieter and localizes to the left lower sternal border on upright position. (ACC-AHA)|NCI|N|
C3267180|Inability to effectively digest or absorb the components of breast milk substitutes. Symptoms may include emesis, abdominal distension or diarrhea.|NCI|N|
C3267187|Syndrome with characteristics of sagittal craniosynostosis, hydrocephalus, Chiari I malformation and radioulnar synostosis. Other clinical findings include blepharophimosis, small low-set ears, hypoplastic philtrum, kidney malformation, and hypogenitalism. The syndrome was described in two brothers from a non-consanguineous family. No causative mutation has been identified so far.|SNOMEDCT_US|N|
C3272252|The coronary sinus / left ventricular lead was not implanted because a lead had been previously implanted. (ACC)|NCI|N|
C3272254|The cardiac lead has been left in situ and reused. (ACC)|NCI|N|
C3272257|Evidence of severe retrograde blood flow through the valve(s) of the heart. (ACC)|NCI|N|
C3272258|The cardiac valve orifice is abnormally narrow, to a severe degree. (ACC)|NCI|N|
C3272259|An electrocardiographic finding of ventricular tachycardia that occurs without provocation and does not resolve without intervention.|NCI|N|
C3272263|A sudden loss of consciousness with loss of postural tone not related to anesthesia with high risk characteristics. High risk characteristics include non-ischemic dilated cardiomyopathy, or ischemic heart disease with significant ventricular dysfunction, hypertrophic cardiomyopathy, Brugada Syndrome, or Long QT Syndrome. (ACC)|NCI|N|
C3272264|An electrocardiographic finding of ventricular tachycardia accompanied by syncope in the individual.|NCI|N|
C3272265|There was greater than or equal to 50% stenosis (reduction in cross-sectional area) in three coronary arteries (or greater than or equal to 50% stenosis in the left main coronary artery and greater than or equal to 50% stenosis in the right coronary artery). (ACC)|NCI|N|
C3272268|Deep, poorly localized chest or arm discomfort that is reproducibly associated with physical exertion or emotional stress and is relieved promptly (i.e., in less than 5 minutes) with rest and/or the use of sublingual nitroglycerin. Some patients may have no chest discomfort but present solely with jaw, neck, ear, arm, shoulder, back, or epigastric discomfort or with unexplained dyspnea without discomfort. If these symptoms have a clear relationship to exertion or stress or are relieved promptly with nitrates, they should be considered equivalent to angina. J Am Coll Cardiol, 2007; 50:1-157, doi:10.1016/j.jacc.2007.02.013 (Published online 6 August 2007). (ACC)|NCI|N|
C3272269|The coronary sinus / left ventricular lead was not implanted because the operator was unable to obtain acceptable pacing thresholds. (ACC)|NCI|N|
C3272270|The coronary sinus / left ventricular lead was not implanted because the operator was unable to obtain satisfactory coronary sinus access. (ACC)|NCI|N|
C3272271|The coronary sinus / left ventricular lead was not implanted because the operator was unable to obtain satisfactory vascular access. (ACC)|NCI|N|
C3272272|The coronary sinus / left ventricular lead was not implanted because the coronary sinus was dissected. (ACC)|NCI|N|
C3272273|The coronary sinus / left ventricular lead was not implanted because the operator was unable to position the lead in the tributary vein of the coronary sinus. (ACC)|NCI|N|
C3272277|An episode of cardiac arrest or arrhythmia where the etiology was unknown. (ACC)|NCI|N|
C3272278|The movement (macroscopic or microscopic) of an existing lead within the heart or vascular tree away from the original implantation site. (ACC)|NCI|N|
C3272280|An electrocardiographic finding of ventricular tachycardia or ventricular fibrillation of unknown cause. (ACC)|NCI|N|
C3272281|Discrete (less than 10 mm length) and concentric and readily accessible and non-angulated segment less than 45 degrees and smooth contour and little or no calcification and less than totally occlusive and not ostial in location and no major branch involvement and absence of thrombus. (ACC)|NCI|N|
C3272282|Tubular (10-20 mm length) or eccentric or moderate tortuosity of proximal segment or moderately angulated segment, 45-90 degrees or irregular contour or moderate to heavy calcification or ostial in location or bifurcation lesions requiring double guidewires or some thrombus present or total occlusion less than 3 months old. (ACC)|NCI|N|
C3272283|Diffuse (length greater than 2cm) or excessive tortuosity of proximal segment or extremely angulated segments greater than 90 degrees or total occlusions greater than 3 months old and/or bridging collaterals or inability to protect major side branches or degenerated vein grafts with friable lesions. (ACC)|NCI|N|
C3272284|No perfusion: No antegrade flow beyond the point of occlusion. (www.TIMI.org accessed 21SEP2011) (ACC)|NCI|N|
C3272285|Penetration without perfusion: The contrast material passes beyond the area of obstruction, but fails to opacify the entire coronary bed distal to the obstruction for the duration of the cine run. (www.TIMI.org accessed 21SEP2011) (ACC)|NCI|N|
C3272286|Partial reperfusion: The contrast material passes across the obstruction and opacifies the entire coronary bed distal to the obstruction. However, the rate of entry of contrast into the vessel distal to the obstruction and/or its rate of clearance from the distal bed are perceptibly slower than its entry into and/or clearance from comparable areas not perfused by the culprit vessel (e.g., the opposite coronary artery or coronary bed proximal to the obstruction).(www.TIMI.org accessed 21SEP2011) (ACC)|NCI|N|
C3272287|Complete perfusion: Antegrade flow into the bed distal to the obstruction occurs as promptly as into the bed proximal to the obstruction and clearance of contrast material from the involved bed is as rapid as from an uninvolved bed in the same vessel or the opposite artery. (www.TIMI.org accessed 21SEP2011) (ACC)|NCI|N|
C3272295|Renal cell carcinoma that develops in patients who are long-term survivors of childhood neuroblastoma.|NCI|N|
C3272303|An electrocardiographic finding that the cardiac rhythm is initiated by a cardiac pacemaker generated electrical impulse in the ventricle. Intrinsic ventricular complexes are absent.|NCI|N|
C3272304|Pathologic material in a vessel that obstructs myocardial perfusion. (ACC)|NCI|N|
C3272306|Characteristics of coronary lesions that contribute to procedural risk during coronary intervention.|NCI|N|
C3272309|A tear within the wall of a coronary vein. (ACC)|NCI|N|
C3272314|A blood clot (thrombus) in the lumen of the carotid artery. (ACC)|NCI|N|
C3272317|Fifty percent or greater stenosis within an existing stent. (ACC)|NCI|N|
C3272318|A measure of procedural success during a percutaneous coronary intervention when a guidewire can be deployed across a coronary artery lesion. (ACC)|NCI|N|
C3272320|The contribution of blood supply from the right or left vessel system to the posterior descending artery. (ACC)|NCI|N|
C3272334|A non-neoplastic hamartomatous polyp that arises from the colon and rectum. It is characterized by the presence of smooth muscle branching bands, and cystic mucosal changes.|NCI|N|
C3272364|A term that refers to a TNM finding of a primary tumor limited to the site of growth and indicates microinvasion only.|NCI|N|
C3272399|A well differentiated, low, intermediate, or high grade neoplasm with neuroendocrine differentiation that arises from the stomach.|NCI|N|
C3272402|Problem with the amount of output energy needed to cause cardiac depolarization being higher than expected/desired.|NCI|N|
C3272403|Problem with the amount of output energy needed to cause cardiac depolarization being unstable.|NCI|N|
C3272404|Problem associated with the device ceasing to deliver paces.|NCI|N|
C3272405|Problem associated with the results of a test or measurement not appearing.|NCI|N|
C3272406|Handling of the device not in accordance with specification, prior to use on the patient.|NCI|N|
C3272407|A well differentiated, intermediate grade neoplasm with neuroendocrine differentiation that arises from the stomach. The mitotic count is 2-20 per 10 HPF and/or the Ki67 index is 3 to 20 percent.|NCI|N|
C3272409|An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the stomach. The mitotic count is more than 20 per 10 HPF. According to the size of the malignant cells, the prominence of the nucleoli, and the amount of cytoplasm, it is classified either as small or large cell neuroendocrine carcinoma.|NCI|N|
C3272410|An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the stomach. It is characterized by the presence of malignant large cells.|NCI|N|
C3272411|A carcinoma that arises from the stomach and is characterized by the presence of a malignant glandular epithelial component and a malignant neuroendocrine component. At least 30 percent of either component should be present for the diagnosis to be made.|NCI|N|
C3272419|A gastrointestinal stromal tumor arising from the stomach. It is characterized by a maximum diameter equal or less than 5 cm and no more than 5 mitotic figures per 50 high power fields.|NCI|N|
C3272421|A gastrointestinal stromal tumor arising from the stomach. It is characterized by large size (diameter greater than 10 cm) or more than 5 mitotic figures per 50 high power fields.|NCI|N|
C3272422|A gastrointestinal stromal tumor arising from the stomach. It is characterized by a maximum diameter greater than 5 cm and equal or less than 10 cm and no more than 5 mitotic figures per 50 high power fields.|NCI|N|
C3272423|A rare synovial sarcoma that arises from the stomach.|NCI|N|
C3272424|A rare glomus tumor that arises from the stomach. It is seen in adults, especially women. The majority of cases follow a benign clinical course.|NCI|N|
C3272425|A rare schwannoma that arises from the stomach. It follows a benign clinical course.|NCI|N|
C3272426|A rare soft tissue neoplasm arising from the stomach. It occurs in the antrum and pyloric region and it may extend into the duodenum. It occurs in all ages and affects men and women equally. Morphologically it is characterized by a multinodular plexiform mass that involves the muscular layer. The neoplastic cells are spindle-shaped and the mitotic activity is low. It follows a benign clinical course.|NCI|N|
C3272431|A premalignant neoplastic and dysplastic lesion that arises from the ampulla of Vater. It is characterized by the absence of invasion. This category includes intestinal-type adenomas, noninvasive papillary neoplasms of pancreatobiliary type, and flat intraepithelial neoplasia.|NCI|N|
C3272433|An exophytic, preinvasive, papillary epithelial neoplasm that arises from the ampulla of Vater. Histologically it resembles the papillary neoplasms of the biliary tree. This category includes neoplasms with low grade dysplasia and high grade dysplasia.|NCI|N|
C3272434|An ampullary noninvasive papillary neoplasm of the pancreatobiliary type characterized by the presence of low grade dysplasia.|NCI|N|
C3272435|An ampullary noninvasive papillary neoplasm of the pancreatobiliary type characterized by the presence of high grade dysplasia.|NCI|N|
C3272438|A non-polypoid, preinvasive neoplasm that arises from the ampulla of Vater. It is characterized by the presence of high grade dysplasia.|NCI|N|
C3272446|A regional lymph node TNM finding indicating that there is metastasis to 1-3 nodes. The metastasis is greater than 2 mm and all are less than 20 mm.|NCI|N|
C3272449|A regional lymph node TNM finding indicating that there is metastasis to four or more nodes. The metastasis is greater than 2 mm and all are less than 20 mm.|NCI|N|
C3272450|A regional lymph node TNM finding indicating that the tumor extends beyond the lymph node capsule and is less than 20 mm.|NCI|N|
C3272451|A regional lymph node TNM finding indicating that the metastases to the lymph nodes are more than 20 mm.|NCI|N|
C3272457|A regional lymph node TNM finding indicating the presence of micrometastases (greater than 0.2 mm and/or more than 200 cells, but none greater than 2.0 mm).|NCI|N|
C3272462|A morphologic finding indicating the presence of malignant cells with a phenotype that resembles the malignant cells of the pancreatic ductal or extrahepatic bile duct carcinomas.|NCI|N|
C3272463|A rare variant of undifferentiated carcinoma that arises from the ampulla of Vater. It is characterized by the presence of non-neoplastic, histiocytic, osteoclast-like multinucleated giant cells.|NCI|N|
C3272464|A very rare adenocarcinoma that arises from the ampulla of Vater. It is usually of the intestinal type and is characterized by the presence of malignant polygonal cells with abundant eosinophilic cytoplasm resembling hepatocytes.|NCI|N|
C3272465|An invasive adenocarcinoma that arises from an exophytic papillary neoplasm of the ampulla of Vater.|NCI|N|
C3272476|A neoplasm with neuroendocrine differentiation that arises from the ampulla of Vater and periampullary region. It includes neuroendocrine tumors (well-differentiated neuroendocrine neoplasms) and neuroendocrine carcinomas (poorly differentiated neuroendocrine neoplasms).|NCI|N|
C3272477|A well differentiated, low, intermediate, or high grade neoplasm with neuroendocrine differentiation that arises from the ampulla of Vater and periampullary region.|NCI|N|
C3272478|A well differentiated, low grade neoplasm with neuroendocrine differentiation that arises from the ampulla of Vater and the periampullary region. The mitotic count is less than 2 per 10 HPF.|NCI|N|
C3272479|A well differentiated, intermediate grade neoplasm with neuroendocrine differentiation that arises from the ampulla of Vater and the periampullary region. The mitotic count is 2-20 per 10 HPF.|NCI|N|
C3272480|An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the ampulla of Vater and the periampullary region. The mitotic count is more than 20 per 10 HPF. According to the size of the malignant cells, the prominence of the nucleoli, and the amount of cytoplasm, it is classified either as small or large cell neuroendocrine carcinoma. Patients usually present with advanced stage disease.|NCI|N|
C3272481|An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the ampulla of Vater and the periampullary region. It is characterized by the presence of malignant large cells.|NCI|N|
C3272482|A carcinoma that arises from the ampulla of Vater and the periampullary region. It is characterized by the presence of a malignant glandular epithelial component and a malignant neuroendocrine component. At least 30 percent of either component should be present for the diagnosis to be made.|NCI|N|
C3272483|A well differentiated neuroendocrine tumor that arises from the ampulla of Vater and the periampullary region. It produces serotonin.|NCI|N|
C3272484|A well differentiated neuroendocrine tumor that arises from the ampulla of Vater and the periampullary region. It produces somatostatin.|NCI|N|
C3272485|An extra-adrenal paraganglioma that arises from the ampulla of Vater and the periampullary region. It consists of a mixture of neuroendocrine cells, Schwann-like cells, and ganglion cells.|NCI|N|
C3272486|An immunohistochemical test result indicating that there are neoplastic cells stained positive with the p16 INK4a monoclonal antibody.|NCI|N|
C3272487|A rare, primary marginal zone lymphoma of mucosa-associated lymphoid tissue that arises from the meningeal dura. The majority of cases have been described in middle aged women. Radiologically, the lymphomatous dural infiltration mimics meningioma.|NCI|N|
C3272501|A term that refers to a TNM finding of a primary, non-invasive, papillary cancer.|NCI|N|
C3272519|A non-neoplastic hamartomatous polyp that arises from the small intestine. It is characterized by the presence of tortuous and cystically dilated glands, edematous changes, and inflammation.|NCI|N|
C3272520|A B-cell non-Hodgkin lymphoma that arises from the small intestine. Representative examples include diffuse large B-cell lymphoma, mucosa-associated lymphoid tissue lymphoma, alpha heavy chain disease/immunoproliferative small intestinal disease, Burkitt lymphoma, follicular lymphoma, and mantle cell lymphoma.|NCI|N|
C3272521|A T-cell non-Hodgkin lymphoma that arises from the small intestine. It includes the enteropathy-associated T-cell lymphoma and the monomorphic CD56 positive intestinal T-cell lymphoma.|NCI|N|
C3272522|A diffuse large B-cell lymphoma that arises from the small intestine.|NCI|N|
C3272523|A follicular lymphoma that arises from the small intestine. It most often affects the duodenum.|NCI|N|
C3272524|A small intestinal high grade B-cell lymphoma with blastoid features or features between diffuse large B-cell lymphoma and Burkitt lymphoma which lacks MYC, BCL2, and BCL6 rearrangements.|NCI|N|
C3272525|A mature T-cell and NK-cell non-Hodgkin lymphoma of intraepithelial T-lymphocytes. It usually arises from the small intestine. A minority of cases arise from the large intestine or the stomach. It is characterized by the presence of a monomorphic cellular infiltrate of small to medium-sized T-lymphocytes that are cytotoxic and express CD56. It is not associated with celiac disease.|NCI|N|
C3272526|A Kaposi sarcoma that arises from the small intestine.|NCI|N|
C3272527|An angiosarcoma that arises from the small intestine.|NCI|N|
C3272528|A well differentiated, low, intermediate, or high grade neoplasm with neuroendocrine differentiation that arises from the small intestine.|NCI|N|
C3272529|A well differentiated, low, intermediate, or high grade neoplasm with neuroendocrine differentiation that arises from the small or large intestine.|NCI|N|
C3272530|An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the small or large intestine. The mitotic count is more than 20 per 10 HPF. According to the size of the malignant cells, the prominence of the nucleoli, and the amount of cytoplasm, it is classified either as small or large cell neuroendocrine carcinoma.|NCI|N|
C3272531|An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the small intestine. The mitotic count is more than 20 per 10 HPF. According to the size of the malignant cells, the prominence of the nucleoli, and the amount of cytoplasm, it is classified either as small or large cell neuroendocrine carcinoma.|NCI|N|
C3272532|An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the small intestine. It is characterized by the presence of malignant large cells.|NCI|N|
C3272533|A carcinoma that arises from the small intestine and is characterized by the presence of a malignant glandular epithelial component and a malignant neuroendocrine component. At least 30 percent of either component should be present for the diagnosis to be made.|NCI|N|
C3272534|A well differentiated, intermediate grade neoplasm with neuroendocrine differentiation that arises from the small intestine. The mitotic count is 2-20 per 10 HPF and/or the Ki67 index is 3 to 20 percent.|NCI|N|
C3272539|A usually indolent neuroendocrine neoplasm that arises in the small intestine. Patients may present with gastrointestinal hemorrhage. It is a triphasic tumor consisting of a mixture of epithelioid neuroendocrine cells, Schwann-like cells, and ganglion cell-like elements.|NCI|N|
C3272603|A neoplasm with neuroendocrine differentiation that arises from the colon or rectum. It includes neuroendocrine tumors (well-differentiated neuroendocrine neoplasms) and neuroendocrine carcinomas (poorly differentiated neuroendocrine neoplasms).|NCI|N|
C3272607|An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the colon or rectum. The mitotic count is more than 20 per 10 HPF. According to the size of the malignant cells, the prominence of the nucleoli, and the amount of cytoplasm, it is classified either as small or large cell neuroendocrine carcinoma.|NCI|N|
C3272608|An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the colon or rectum. It is characterized by the presence of malignant large cells.|NCI|N|
C3272609|A carcinoma that arises from the colon or rectum and is characterized by the presence of a malignant glandular epithelial component and a malignant neuroendocrine component. At least 30 percent of either component should be present for the diagnosis to be made.|NCI|N|
C3272610|A well differentiated, low, intermediate, or high grade neoplasm with neuroendocrine differentiation that arises from the colon or rectum.|NCI|N|
C3272611|A well differentiated, low grade neuroendocrine neoplasm (carcinoid tumor) that arises from the colon or rectum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent.|NCI|N|
C3272612|A neuroendocrine tumor that arises from the colon or rectum and produces glucagon-like peptides. Morphologically, it is characterized by the presence of neoplastic cells forming tubular or trabecular patterns.|NCI|N|
C3272613|A well differentiated neuroendocrine tumor that arises from the colon or rectum and produces serotonin.|NCI|N|
C3272614|A well differentiated, intermediate grade neoplasm with neuroendocrine differentiation that arises from the colon or rectum. The mitotic count is 2-20 per 10 HPF and/or the Ki67 index is 3 to 20 percent.|NCI|N|
C3272616|A well differentiated, intermediate grade neoplasm with neuroendocrine differentiation that arises from the small or large intestine. The mitotic count is 2-20 per 10 HPF and/or the Ki67 index is 3 to 20 percent.|NCI|N|
C3272617|A well differentiated, intermediate grade neoplasm with neuroendocrine differentiation that arises from the digestive system. The mitotic count is 2-20 per 10 HPF and/or the Ki67 index is 3 to 20 percent.|NCI|N|
C3272618|A morphologic finding indicating the presence of occasional macrophages in a tissue sample.|NCI|N|
C3272619|Chronic cholecystitis not associated with the presence of gallstones.|NCI|N|
C3272620|A morphologic finding indicating the replacement of part of the columnar epithelium by intestinal-type epithelium.|NCI|N|
C3272622|A morphologic finding indicating the presence of darkly stained macrophages that contain melanin.|NCI|N|
C3272627|The deposition of hyaline material in the wall of the efferent arterioles.|NCI|N|
C3272629|A morphologic finding indicating the presence of epithelial changes in a tissue sample that result from a pathologic process.|NCI|N|
C3272630|A morphologic finding indicating the presence of fibroblastic hyperplasia in a tissue sample.|NCI|N|
C3272631|A finding indicating the presence of a focal ulcerated lesion that is associated with hemorrhage.|NCI|N|
C3272633|The deposition of hyaline material in the wall of the arterioles.|NCI|N|
C3272634|A morphologic finding indicating the presence of a neutrophilic infiltrate within the mucosa of a tissue sample.|NCI|N|
C3272636|A morphologic finding indicating the presence of a malignant cellular infiltrate invading the muscularis mucosa.|NCI|N|
C3272642|A cyst located at the periphery of the meniscus.|NCI|N|
C3272644|A microscopic finding indicating the absence of neoplastic cells in a tissue sample.|NCI|N|
C3272645|A lesion that is located in the serosa surface of an organ.|NCI|N|
C3272646|A morphologic finding indicating the presence of inflammatory cells in the connective tissue that surrounds groups of muscle fibers (perimysium) and the connective tissue that surrounds individual muscle fibers (endomysium).|NCI|N|
C3272648|A morphologic finding indicating the presence of eosinophils scattered in the interstitial spaces of a tissue sample.|NCI|N|
C3272649|A morphologic finding indicating the presence of hemosiderin deposits in the stroma of a tissue sample.|NCI|N|
C3272650|A morphologic finding indicating the presence of a collagen band under the epithelial layer in a tissue sample.|NCI|N|
C3272651|Hyperparakeratosis of the oral mucosa caused by chronic tobacco use. It manifests as oral leukoplakia.|NCI|N|
C3272653|A humanized IgG4 monoclonal antibody against the semaphorin 4D (SEMA4D; CD100) with potential immunomodulating and antineoplastic activities. Upon administration, anti-SEMA4D monoclonal antibody VX15/2503 binds to and neutralizes SEMA4D, thereby preventing binding of SEMA4D to its receptor plexin-B1 (PLXNB1). By blocking the interaction of SEMA4D and PLXNB1, VX15/2503 may cause an inhibition of endothelial cell activation and migration, eventually leading to an inhibition of angiogenesis and tumor cell proliferation. Semaphorin 4D, a large cell surface antigen found on the resting T-cell and overexpressed in a variety of tumor cell types, plays an important role in vascular growth, tumor progression, invasion and immune cell regulation.|PDQ|N|
C3272655|A reactive inflammatory disorder affecting the urethra. It is characterized by the development of small cysts in the urethral wall. The cysts are lined by urothelial cells and metaplastic glandular cells.|NCI|N|
C3272656|A reactive inflammatory disorder affecting the urethra. It is characterized by the development of small cysts in the urethral wall. The cysts are lined by urothelial cells.|NCI|N|
C3272657|A reactive inflammatory disorder affecting the urethra. It is characterized by the development of small cysts in the urethral wall. The cysts are lined by metaplastic glandular cells.|NCI|N|
C3272659|A reactive inflammatory disorder affecting the bladder. It is characterized by the development of small cysts in the bladder wall. The cysts are lined by urothelial cells and metaplastic glandular cells.|NCI|N|
C3272665|A morphologic finding indicating the presence of extensive injury of the alveolar pneumocytes in a lung tissue sample.|NCI|N|
C3272666|A morphologic finding indicating enlargement of the glomeruli in a kidney specimen.|NCI|N|
C3272692|A morphologic finding indicating the presence of fine granular yellowish-brownish pigment within the cytoplasm of the cells in a tissue sample.|NCI|N|
C3272693|A molecular abnormality referring to the loss of at least one copy of the PTEN gene (10q23).|NCI|N|
C3272694|A change in the nucleotide sequence of the PIK3CA gene.|NCI|N|
C3272724|A morphologic finding referring to the presence of a vacuolated area that surrounds the nucleus. It results from nuclear shrinking.|NCI|N|
C3272726|Intraluminal hyperplasia of endothelial cells, encircling the entire lumen.|NCI|N|
C3272727|A morphologic finding that refers to delicate vascular channel formations. It is characterized by the formation of arborizing and curving capillaries.|NCI|N|
C3272728|A morphologic finding referring to the presence of multiple foci of serpentine necrosis and glial cell perivascular pseudopalisading in a glioma.|NCI|N|
C3272729|A morphologic finding that refers to the accumulation of glial cells encircling neurons and/or vessels in a tissue specimen.|NCI|N|
C3272730|A morphologic finding that refers to the presence of ectopic gray matter in a tissue sample.|NCI|N|
C3272731|A morphologic finding that refers to the presence of ectopic white matter in a tissue sample.|NCI|N|
C3272735|A morphologic finding that refers to the presence of a small cell component in a cellular infiltrate.|NCI|N|
C3272736|A morphologic finding referring to the presence of a cellular infiltrate that is composed of cells with perinuclear cytoplasmic halos, resembling oligodendrocytes.|NCI|N|
C3272743|An indication that the test system (animal) could not be found, in which case, its disposition was not known, and no postmortem data was available.|NCI|N|
C3272758|A viral infection that occurs during infancy, childhood or adolescence.|NCI|N|
C3272759|A group of congenital or acquired disorders that affect the normal development of the brain.|NCI|N|
C3272760|Polyps that arises from the appendix. They are characterized by the presence of serrated glands and the absence of generalized dysplasia.|NCI|N|
C3272761|A non-neoplastic polyp that arises from the appendix. It is characterized by the presence of elongated serrated crypts and the absence of atypia or dysplasia.|NCI|N|
C3272762|A morphologic finding indicating the presence of dysplasia throughout a cellular component in a tissue sample.|NCI|N|
C3272763|A precancerous intraepithelial neoplastic lesion that affects the appendix. It is characterized by low or high grade dysplasia of the mucosal epithelium. There is no evidence of invasion.|NCI|N|
C3272764|A precancerous intraepithelial neoplastic lesion that affects the appendix. It is characterized by the presence of mild dysplasia and mild architectural alterations of the mucosal epithelium. There is no evidence of invasion.|NCI|N|
C3272765|A precancerous intraepithelial neoplastic lesion that affects the appendix. It is characterized by the presence of moderate or severe dysplasia and complex architectural alterations of the mucosal epithelium. There is no evidence of invasion.|NCI|N|
C3272766|A mucinous adenocarcinoma that arises from the appendix. The malignant cells are numerous and exhibit high grade dysplasia. It may be associated with pseudomyxoma peritonei, but unlike the low grade mucinous neoplasm, it invades other organs and metastasizes to distant anatomic sites.|NCI|N|
C3272767|Endocrine tumor of the appendix is the most common sporadic neoplasm of the appendix and the second most common type of digestive endocrine tumor, often with no specific clinical presentation. They are divided into either classic endocrine tumor of the appendix or the more aggressive goblet cell carcinoma (GCC; see these terms).|ORDO|N|
C3272768|A well differentiated, intermediate grade neoplasm with neuroendocrine differentiation that arises from the appendix. The mitotic count is 2-20 per 10 HPF and/or the Ki67 index is 3 to 20 percent.|NCI|N|
C3272769|A well differentiated neuroendocrine tumor arising from the wall of the appendix. It is characterized by the presence of neoplastic cells forming round solid nests and occasionally glandular structures. The majority of the cases are asymptomatic, and they are found incidentally in appendectomy specimens. The majority of the tumors are located in the distal end of the appendix and they are enterochromaffin-cell carcinoid tumors producing serotonin. Most cases show morphologic evidence of appendiceal wall and lymphatic vessel invasion by tumor cells. Despite the morphologic evidence of invasion, appendiceal carcinoid tumors only infrequently produce lymph node or distant metastases.|NCI|N|
C3272778|A rare Kaposi sarcoma that arises from the appendiceal wall.|NCI|N|
C3272779|A neuroma that arises from the appendix. It is characterized by a neural spindle cell proliferation that replaces the appendiceal mucosa and lymphoid tissue. It usually results in the obliteration of the appendiceal lumen.|NCI|N|
C3272790|An adenoma that arises from the rectum. It is characterized by prominent serration of the glands.|NCI|N|
C3272791|Polyps that arise from the colon, and are characterized by the presence of serrated glands and the absence of generalized dysplasia.|NCI|N|
C3272792|Polyps that arises from the rectum. They are characterized by the presence of serrated glands and the absence of generalized dysplasia.|NCI|N|
C3272793|A traditional serrated adenoma characterized by the presence of prominent villous projections of the neoplastic epithelium.|NCI|N|
C3272794|A morphologic finding indicating the presence of prominent, thin, elongated projections of the neoplastic glandular epithelium in the colorectal mucosa.|NCI|N|
C3272795|A traditional serrated adenoma that arises from the colon or rectum. It is characterized by the presence of prominent villous projections of the neoplastic epithelium.|NCI|N|
C3272796|A term that refers to a group of polypoid lesions in the colon and rectum that are characterized by the presence of serrated architecture of the epithelial component. This group includes hyperplastic polyps, traditional serrated adenomas, and sessile serrated adenomas/polyps.|NCI|N|
C3272797|The presence of multiple serrated polyps in the colon. The polyps are predominantly sessile serrated adenomas/polyps. A minority of the polyps are microvesicular variants of hyperplastic polyps. According to some authors, the polyps are proximal to the sigmoid colon. According to others, the polyps are distributed throughout the entire colon.|NCI|N|
C3272798|A serrated hyperplastic polyp that arises from the colon and rectum. It is characterized by the presence of goblet cells and the absence of microvacuolated columnar cells. There is no evidence of epithelial atypia or dysplasia.|NCI|N|
C3272799|A serrated hyperplastic polyp that arises from the colon and rectum. It is characterized by the presence of small cells in the crypts that do not contain mucin. Reactive epithelial atypia may be present.|NCI|N|
C3272800|A serrated hyperplastic polyp that arises from the colon and rectum. It is characterized by the presence of microvacuolated columnar cells that are admixed with small numbers of goblet cells. There is no evidence of epithelial atypia or dysplasia.|NCI|N|
C3272801|A non-neoplastic, hamartomatous polyp that arises from the colon and rectum. This group includes the juvenile polyp, Peutz-Jeghers polyp, and Cowden-associated polyp.|NCI|N|
C3272802|Polyp-like protrusions which are histologically hamartomas. These can occur throughout the gastrointestinal tract. Hamartomatous polyps are composed of the normal cellular elements of the gastrointestinal tract, but have a markedly distorted architecture.|HPO|N|
C3272803|A hamartomatous polyp that arises from the colon and rectum and it is associated with the presence of Cowden syndrome.|NCI|N|
C3272804|A usually polypoid neoplasm that arises from the glandular epithelium of the rectal mucosa. It is characterized by a tubular architectural pattern. The neoplastic glandular cells have dysplastic features.|NCI|N|
C3272805|A polypoid adenoma that arises from and protrudes into the lumen of the colon or rectum. Epithelial dysplasia is always present. According to the architectural pattern it is classified as tubular, tubulovillous, or villous.|NCI|N|
C3272806|A polypoid adenoma that arises from and protrudes into the lumen of the rectum. Epithelial dysplasia is always present. According to the architectural pattern it is classified as tubular, tubulovillous, or villous.|NCI|N|
C3272807|The concurrent presence of three copies each of chromosomes 4 and 10.|NCI|N|
C3272809|A rare, invasive colorectal adenocarcinoma characterized by the presence of a malignant infiltrate with serrated glandular architecture.|NCI|N|
C3272810|A rare, invasive colon adenocarcinoma characterized by the presence of a malignant infiltrate with serrated glandular architecture.|NCI|N|
C3272811|A rare, invasive rectal adenocarcinoma characterized by the presence of a malignant infiltrate with serrated glandular architecture.|NCI|N|
C3272812|A rare, invasive colorectal adenocarcinoma characterized by the presence of malignant cribriform glands with central necrotic changes.|NCI|N|
C3272813|A rare, invasive colon adenocarcinoma characterized by the presence of malignant cribriform glands with central necrotic changes.|NCI|N|
C3272814|A rare, invasive rectal adenocarcinoma characterized by the presence of malignant cribriform glands with central necrotic changes.|NCI|N|
C3272815|A rare, invasive colorectal adenocarcinoma characterized by the presence of clusters of malignant glandular cells within stromal spaces.|NCI|N|
C3272816|A rare, invasive colon adenocarcinoma characterized by the presence of clusters of malignant glandular cells within stromal spaces.|NCI|N|
C3272817|A rare, invasive rectal adenocarcinoma characterized by the presence of clusters of malignant glandular cells within stromal spaces.|NCI|N|
C3272818|A biphasic colorectal carcinoma with a spindle cell, sarcomatoid component.|NCI|N|
C3272819|A term that refers to raised and dysplastic large intestinal lesions in patients with a history of ulcerative colitis. Grossly, these lesions present as polyps, plaques, or patches in areas affected by ulcerative colitis. The presence of these lesions is associated with the development of adenocarcinomas. Colectomy is indicated when they are detected.|NCI|N|
C3272820|A colorectal adenocarcinoma that develops in patients with a history of ulcerative colitis. Such carcinomas are usually multiple and flat. Histologically, they are usually mucinous or signet-ring cell type.|NCI|N|
C3272821|A colorectal adenocarcinoma that develops in patients with a history of Crohn disease.|NCI|N|
C3272822|An extranodal lymphoma that arises from the colon or rectum. The majority are B-cell non-Hodgkin lymphomas.|NCI|N|
C3272823|An extranodal non-Hodgkin lymphoma that arises from the colon or rectum. The majority are B-cell non-Hodgkin lymphomas.|NCI|N|
C3272824|An extranodal Hodgkin lymphoma that arises from the colon or rectum.|NCI|N|
C3272825|A colorectal high grade B-cell lymphoma with blastoid features or features between diffuse large B-cell lymphoma and Burkitt lymphoma which lacks MYC, BCL2, and BCL6 rearrangements.|NCI|N|
C3272826|A rare Burkitt lymphoma that arises from the colon or rectum.|NCI|N|
C3272827|A diffuse large B-cell lymphoma that arises from the colon or rectum.|NCI|N|
C3272828|A diffuse large B-cell lymphoma that arises from the colon. It is the most frequent type of lymphoma found in the colon.|NCI|N|
C3272829|A mantle cell lymphoma that arises from the colon or rectum. It often presents as a polypoid lesion.|NCI|N|
C3272830|An extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue that arises from the colon or rectum.|NCI|N|
C3272831|A malignant soft tissue neoplasm that arises from the colon or rectum. Representative examples include angiosarcoma, Kaposi sarcoma, and leiomyosarcoma.|NCI|N|
C3272832|An aggressive malignant smooth muscle neoplasm that arises from the colon or rectum. It is characterized by a proliferation of neoplastic spindle cells.|NCI|N|
C3272833|A Kaposi sarcoma that arises from the colon or rectum.|NCI|N|
C3272834|An angiosarcoma that arises from the colon or rectum.|NCI|N|
C3272835|A schwannoma that arises from the colon or rectum. It may cause gastrointestinal bleeding and luminal obstruction.|NCI|N|
C3272836|A perineurioma that arises from the colon or rectum. It usually presents as a small sessile polyp.|NCI|N|
C3272837|A ganglioneuroma that arises from the colon or rectum. It usually presents as a small mucosal polyp.|NCI|N|
C3272838|A granular cell tumor that arises from the colon or rectum and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C3272841|MUTYH polyposis (also referred to as MUTYH-associated polyposis, or MAP) is characterized by a greatly increased lifetime risk of colorectal cancer (CRC). Although typically associated with ten to a few hundred colonic adenomatous polyps, CRC develops in some individuals in the absence of polyposis. Serrated adenomas, hyperplastic/sessile serrated polyps, and mixed (hyperplastic and adenomatous) polyps can also occur. Duodenal adenomas are common, with an increased risk of duodenal cancer. The risk for malignancies of the ovary and bladder is also increased, and there is some evidence of an increased risk for breast and endometrial cancer. Additional reported features include thyroid nodules, benign adrenal lesions, jawbone cysts, and congenital hypertrophy of the retinal pigment epithelium.|GeneReviews|N|
C3272842|A molecular genetic abnormality that refers to the mutation of the MUTYH gene on chromosome 1p34.1.|NCI|N|
C3272843|A molecular genetic abnormality that refers to the mutation of the BMPR1A (bone morphogenetic protein receptor, type 1A) gene on chromosome 10q22.3.|NCI|N|
C3272849|A are epithelial tumor of the anal canal arising from enterochromaffin cells in the colorectal-type epithelium above the dentate line and in the anal transition zone. The tumors are slow growing and the majority of cases are diagnosed in later advanced stages. It may present with symptoms related to the anatomical location of the tumor (rectal mass, rectal bleeding and pain, tenesmus or changes in bowel habits), symptoms of carcinoid syndrome (flushing and increased gut motility) or nonspecific symptoms of advanced disease (hepatomegaly, fever, weight loss, anorexia, malaise).|ORDO|N|
C3272852|A well differentiated, low grade neoplasm with neuroendocrine differentiation that arises from the anal canal. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent.|NCI|N|
C3272854|A well differentiated, intermediate grade neoplasm with neuroendocrine differentiation that arises from the anal canal. The mitotic count is 2-20 per 10 HPF and/or the Ki67 index is 3 to 20 percent.|NCI|N|
C3272856|A carcinoma that arises from the anal canal. It is characterized by the presence of a malignant glandular epithelial component and a malignant neuroendocrine component. At least 30 percent of either component should be present for the diagnosis to be made.|NCI|N|
C3272898|A non-radiological determination of disease progression based on symptoms or other findings.|NCI|N|
C3272903|An assessment of the overall response of the disease to the therapy.|NCI|N|
C3272924|A finding indicating that a tumor mass has been divided into two or more tumors.|NCI|N|
C3272925|An overall level of substantial worsening in non-target disease that is of a magnitude that, even in the presence of SD or PR in target disease, the treating physician would feel it important to change therapy. (RECIST)|NCI|N|
C3272969|A non-neoplastic polypoid lesion that arises from the anal transitional zone. It is characterized by the presence of hyperplastic rectal mucosa that is partially covered by squamous or transitional epithelium.|NCI|N|
C3272973|A benign neoplasm arising from the perianal sweat glands. It presents as a cystic nodular lesion and is characterized by the presence of cystic and papillary structures. The papillary structures contain connective tissue and are covered by two layers of epithelium.|NCI|N|
C3272974|Persistence of one or more non-target lesion(s) and/or maintenance of tumor marker levels above the normal limits. (RECIST)|NCI|N|
C3272979|Problem associated with the device failing to be activated including expansion.|NCI|N|
C3272980|A non-neoplastic disorder that affects the gallbladder. Representative examples include cholecystitis and adenomyomatosis.|NCI|N|
C3273007|A neoplasm that arises from the hepatocytes or intrahepatic bile duct epithelial cells and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential. Representative examples include hepatocellular adenoma and bile duct adenoma.|NCI|N|
C3273008|A hepatocellular adenoma caused by inactivating mutations of the HNF1A gene. It is characterized by the presence of lobulated contours, steatosis, and absence of inflammation or nuclear atypia.|NCI|N|
C3273009|A hepatocellular adenoma caused by activating mutations of beta-catenin. It is characterized by the presence of nuclear atypia and absence of inflammation or steatosis. There is an increased risk of malignant transformation.|NCI|N|
C3273010|A hepatocellular adenoma that occurs more often in women. It is characterized by increased levels of inflammation-associated proteins. It is usually associated with steatosis and obesity.|NCI|N|
C3273011|A hepatocellular adenoma without distinguished morphologic characteristics or known molecular abnormalities.|NCI|N|
C3273013|A molecular genetic abnormality indicating the presence of inactivating mutation of the HNF1A (hepatocyte nuclear factor 1-alpha) gene.|NCI|N|
C3273014|A premalignant neoplastic lesion of the liver. It is characterized by the presence of hepatocytes with decreased cell volume, increased nuclear/cytoplasmic ratio, basophilia, mild nuclear pleomorphism, and hyperchromasia.|NCI|N|
C3273016|A hepatic dysplastic nodule characterized by the presence of high grade atypical cellular changes.|NCI|N|
C3273018|A hepatic dysplastic nodule characterized by the presence of low grade atypical cellular changes.|NCI|N|
C3273019|A low grade, well differentiated small hepatocellular carcinoma. It lacks obvious stromal invasion and significant atypia.|NCI|N|
C3273030|An extremely rare neoplasm with neuroendocrine differentiation that arises from the liver. It includes neuroendocrine tumors (well-differentiated neuroendocrine neoplasms) and neuroendocrine carcinomas (poorly differentiated neuroendocrine neoplasms).|NCI|N|
C3273031|A rare hepatic tumor that may manifest with abdominal pain or fullness, as well as diarrhea or weight loss. More than 10% of cases are asymptomatic and in rare cases a carcinoid syndrome may be observed. The age of onset is variable. The etiology is still unknown but it is thought to arise from Kulchitsky cells originating in the neural crest.|SNOMEDCT_US|N|
C3273032|A rare type of hepatocellular carcinoma characterized by the presence of pleomorphic malignant cells that are intermixed with lymphocytes.|NCI|N|
C3273033|A hepatocellular carcinoma characterized by the presence of malignant cells with mild atypia and an increased nuclear/cytoplasmic ratio forming thin trabecular patterns. It is usually associated with small tumors and an early stage.|NCI|N|
C3273034|A hepatocellular carcinoma characterized by the presence of malignant cells with abundant eosinophilic cytoplasm forming trabecular and pseudoglandular patterns. It is usually associated with tumors that are larger than 3 cm in diameter.|NCI|N|
C3273035|A hepatocellular carcinoma characterized by the presence of malignant pleomorphic cells forming solid patterns.|NCI|N|
C3273048|An intrahepatic cholangiocarcinoma that arises from the small interlobular bile ducts.|NCI|N|
C3273049|An intraductal papillary neoplasm that arises from the epithelium of the intrahepatic or extrahepatic bile ducts. It is characterized by the presence of mild epithelial atypia.|NCI|N|
C3273051|An intraductal papillary neoplasm that arises from the epithelium of the intrahepatic or extrahepatic bile ducts. It is characterized by the presence of severe epithelial atypia.|NCI|N|
C3273052|An intraductal papillary neoplasm that arises from the epithelium of the intrahepatic or extrahepatic bile ducts and it is associated with an invasive carcinomatous component.|NCI|N|
C3273066|A rare benign neoplasm that arises from the intrahepatic bile ducts. It is characterized by the presence of biliary epithelial tissue and fibroblastic stroma.|NCI|N|
C3273069|A non-invasive mucinous cystic neoplasm that arises from the intrahepatic or extrahepatic bile ducts. It is characterized by the presence of mild atypia.|NCI|N|
C3273070|A non-invasive mucinous cystic neoplasm that arises from the intrahepatic or extrahepatic bile ducts. It is characterized by the presence of moderate atypia.|NCI|N|
C3273071|A non-invasive mucinous cystic neoplasm that arises from the intrahepatic or extrahepatic bile ducts. It is characterized by the presence of severe atypia.|NCI|N|
C3273072|A capillary hemangioma that arises from the liver. It occurs in infants and children.|NCI|N|
C3273073|A rare lymphangioma that arises from the liver. It usually occurs in children and adolescents.|NCI|N|
C3273074|Multiple lymphangiomas that affect the liver and other anatomic sites. Although histologically benign, diffuse lymphangiomatosis that affects the liver and multiple organs has a poor prognosis.|NCI|N|
C3273075|A synovial sarcoma that affects the liver.|NCI|N|
C3273076|A rare, aggressive primary malignant tumor of the liver that occurs in childhood. It is characterized by the presence of a diffuse infiltrate of undifferentiated cells with rhabdoid features.|NCI|N|
C3273077|A benign or malignant extragonadal germ cell tumor that arises from the liver. Representative examples include teratoma and yolk sac tumor.|NCI|N|
C3273078|A yolk sac tumor that arises from the liver.|NCI|N|
C3273080|A non-neoplastic disorder that affects the liver, bile ducts, and gallbladder. Representative examples include hepatitis, cirrhosis, cholangitis, and cholecystitis.|NCI|N|
C3273083|A molecular genetic abnormality indicating the presence of a sensitizing mutation in the epidermal growth factor receptor-tyrosine kinase inhibitor domain.|NCI|N|
C3273084|A molecular genetic abnormality indicating the presence of resistance in the epidermal growth factor receptor-tyrosine kinase inhibitor domain, due to secondary mutations of the EGFR gene.|NCI|N|
C3273085|A molecular genetic abnormality indicating the presence of multiple copies of the PIK3CA (phosphatidyl inositol 3-kinase) gene.|NCI|N|
C3273086|A molecular genetic abnormality indicating the presence of mutations in the AKT family of genes. This family includes the AKT1, AKT2, and AKT3 genes that are located on chromosomes 14, 19, and 1, respectively.|NCI|N|
C3273087|A molecular genetic abnormality indicating the presence of a mutation in the ERBB2 gene on chromosome 17q12.|NCI|N|
C3273088|A molecular genetic abnormality indicating the presence of multiple copies of the PDGFRA (platelet-derived growth factor receptor, alpha polypeptide) gene.|NCI|N|
C3273093|An intracholecystic papillary neoplasm that arises from the epithelium of the gallbladder. It is characterized by the presence of mild epithelial atypia.|NCI|N|
C3273094|An intracholecystic papillary neoplasm that arises from the epithelium of the gallbladder. It is characterized by the presence of moderate epithelial atypia.|NCI|N|
C3273095|An intracholecystic papillary neoplasm that arises from the epithelium of the gallbladder. It is characterized by the presence of severe epithelial atypia.|NCI|N|
C3273096|An epithelial, usually multiloculated neoplasm arising from the gallbladder. It occurs predominantly in females. Signs and symptoms include abdominal mass, abdominal pain, and jaundice. Morphologically, the cystic spaces are lined by columnar epithelium and contain mucinous or serous fluid.|NCI|N|
C3273098|A non-invasive mucinous cystic neoplasm that arises from the gallbladder epithelium. It is characterized by the presence of mild atypia.|NCI|N|
C3273099|A non-invasive mucinous cystic neoplasm that arises from the gallbladder epithelium. It is characterized by the presence of moderate atypia.|NCI|N|
C3273101|A non-invasive mucinous cystic neoplasm that arises from the gallbladder epithelium. It is characterized by the presence of severe atypia.|NCI|N|
C3273102|A mucinous cystic neoplasm that arises from the gallbladder and it is associated with an invasive carcinomatous component.|NCI|N|
C3273103|A rare variant of gallbladder adenocarcinoma. It is characterized by the presence of a malignant glandular epithelial infiltrate with a cribriform growth pattern.|NCI|N|
C3273113|A well or moderately differentiated adenocarcinoma that arises from the gallbladder. It is the most common type of gallbladder carcinoma and is characterized by the presence of malignant tubular glands. Intestinal differentiation may be present.|NCI|N|
C3273114|An unusual, well differentiated adenocarcinoma that arises from the gallbladder. It is characterized by the presence of tall malignant columnar cells with mucin-containing cytoplasm and basally located nuclei.|NCI|N|
C3273115|A rare very aggressive neuroendocrine neoplasm with the presence of nodular mass(es) arising from the neck, fundus or body of the gallbladder or by diffuse thickening of the gallbladder wall. Patients may be asymptomatic (diagnosed incidentally after surgical resection of the gallbladder) or may present epigastric pain, abdominal mass and/or non-specific symptoms, such as nausea, jaundice, flushing, cough, wheezing, ascites. Paraneoplastic syndromes such as Cushing syndrome, acanthosis nigricans, bullous pemphigoid, dermatomyositis and the Leser-Trelat sign may be associated.|SNOMEDCT_US|N|
C3273116|A rare, very aggressive neuroendocrine neoplasm characterized by the presence of nodular mass(es) arising from the neck, fundus or body of the gallbladder or by diffuse thickening of the gallbladder wall. Patients may be asymptomatic (diagnosed incidentally after surgical resection of the gallbladder) or may present epigastric pain, abdominal mass and/or non-specific symptoms, such as nausea, jaundice, flushing, cough, wheezing, ascites, and anepithymia. Paraneoplastic syndromes, such as Cushing syndrome, hypercalcemia, acanthosis nigricans, bullous pemphigoid, dermatomyositis and the Leser-Trélat sign, may be associated.|ORDO|N|
C3273117|An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the gallbladder. The mitotic count is more than 20 per 10 HPF. According to the size of the malignant cells, the prominence of the nucleoli, and the amount of cytoplasm, it is classified either as small or large cell neuroendocrine carcinoma.|NCI|N|
C3273119|A well differentiated, low grade neuroendocrine neoplasm (carcinoid tumor) that arises from the gallbladder. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent.|NCI|N|
C3273120|A well differentiated, intermediate grade neoplasm with neuroendocrine differentiation that arises from the gallbladder. The mitotic count is 2-20 per 10 HPF and/or the Ki67 index is 3 to 20 percent.|NCI|N|
C3273122|A carcinoma that arises from the gallbladder and is characterized by the presence of a malignant glandular epithelial component and a malignant neuroendocrine component. At least 30 percent of either component should be present for the diagnosis to be made.|NCI|N|
C3273123|An invasive mixed adenoneuroendocrine carcinoma of the gallbladder characterized by the presence of neoplastic signet-ring cells resembling goblet cells of the intestine.|NCI|N|
C3273124|A neuroendocrine tumor that arises from the gallbladder. It does not show the morphologic characteristics of typical carcinoid tumors (neoplastic cells forming solid nests). In contrast, the tumor cells form small discrete tubules.|NCI|N|
C3273126|A well or moderately differentiated adenocarcinoma that arises from the extrahepatic bile ducts. It is characterized by the presence of malignant tubular glands.|NCI|N|
C3273127|An unusual, well differentiated adenocarcinoma that arises from the extrahepatic bile ducts. It is characterized by the presence of tall malignant columnar cells with mucin-containing cytoplasm and basally located nuclei.|NCI|N|
C3273130|A neoplastic, non-invasive lesion that affects the extrahepatic bile duct epithelium. It is characterized by the presence of atypical epithelial cells with an increased nuclear/cytoplasmic ratio, nuclear hyperchromasia, and loss of nuclear polarity.|NCI|N|
C3273131|A neoplastic, non-invasive lesion that affects the intrahepatic bile duct epithelium. It is characterized by the presence of atypical epithelial cells with an increased nuclear/cytoplasmic ratio, nuclear hyperchromasia, and loss of nuclear polarity.|NCI|N|
C3273133|A neoplastic, non-invasive lesion that affects the intrahepatic or extrahepatic bile duct epithelium. It is characterized by the presence of atypical epithelial cells with an increased nuclear/cytoplasmic ratio, nuclear hyperchromasia, and loss of nuclear polarity.|NCI|N|
C3273134|A mucinous cystic neoplasm that arises from the extrahepatic bile ducts and it is associated with an invasive carcinomatous component.|NCI|N|
C3273135|A papillary neoplasm that arises from the epithelium of the extrahepatic bile ducts and it is associated with an invasive carcinomatous component. The carcinomatous component is an adenocarcinoma.|NCI|N|
C3273136|A papillary neoplasm that arises from the epithelium of the intrahepatic bile ducts and it is associated with an invasive carcinomatous component. The carcinomatous component is an intrahepatic cholangiocarcinoma.|NCI|N|
C3273137|A lymphoma that arises from the extrahepatic bile ducts, with the bulk of the disease located at this site.|NCI|N|
C3273138|A neoplasm with neuroendocrine differentiation that arises from the extrahepatic bile ducts. It includes neuroendocrine tumors (well-differentiated neuroendocrine neoplasms) and neuroendocrine carcinomas (poorly differentiated neuroendocrine neoplasms).|NCI|N|
C3273139|A well differentiated, low, intermediate, or high grade neoplasm with neuroendocrine differentiation that arises from the extrahepatic bile ducts.|NCI|N|
C3273140|An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the extrahepatic bile ducts. The mitotic count is more than 20 per 10 HPF. According to the size of the malignant cells, the prominence of the nucleoli, and the amount of cytoplasm, it is classified either as small or large cell neuroendocrine carcinoma.|NCI|N|
C3273141|A well differentiated, intermediate grade neoplasm with neuroendocrine differentiation that arises from the extrahepatic bile ducts. The mitotic count is 2-20 per 10 HPF and/or the Ki67 index is 3 to 20 percent.|NCI|N|
C3273142|A carcinoma that arises from the extrahepatic bile ducts and is characterized by the presence of a malignant glandular epithelial component and a malignant neuroendocrine component. At least 30 percent of either component should be present for the diagnosis to be made.|NCI|N|
C3273209|A morphologic finding indicating the presence of basal cells in the epidermis with pale or clear-appearing cytoplasm.|NCI|N|
C3273210|Atrophy of the cerebral cortex and/or cerebellum due to chronic ethanol consumption.|NCI|N|
C3273211|Atrophy of the nervous system tissues and/or muscle tissues that is related to aging.|NCI|N|
C3273212|An adenosquamous carcinoma associated with the presence of human papillomavirus infection.|NCI|N|
C3273215|A grade I invasive lobular carcinoma of the breast, characterized by the presence of round groups of neoplastic cells.|NCI|N|
C3273216|A grade II invasive lobular carcinoma of the breast, characterized by the presence of neoplastic cells with large and atypical nuclei.|NCI|N|
C3273217|A grade I invasive lobular carcinoma of the breast, characterized by the presence of neoplastic cells that form trabeculae and groups infiltrating collagen bundles.|NCI|N|
C3273218|An invasive lobular carcinoma of the breast, characterized by the presence of neoplastic cells forming small tubular structures.|NCI|N|
C3273219|Condyloma acuminatum that is associated with the presence of dysplastic epithelial changes.|NCI|N|
C3273222|A cyst lined by tissue that resembles synovial villi.|NCI|N|
C3273223|A reactive, benign fibrous lesion that develops in the periosteum of the femur. It usually affects boys and there is a history of trauma. It is characterized by the formation of dense collagen tissue and reactive bone.|NCI|N|
C3273224|Extramedullary hematopoiesis occurring during adulthood.|NCI|N|
C3273225|An inherited disorder characterized by progressive degeneration and atrophy of the nervous system.|NCI|N|
C3273226|A rare, slow-growing, locally aggressive soft tissue tumor characterized by the presence of oval to spindle cells forming concentric aggregates around small vessels. Giant multinucleated cells are also present.|NCI|N|
C3273227|Hyperplasia of the bronchial epithelial cells. It is often associated with squamous metaplasia.|NCI|N|
C3273228|Hyperplasia of the germinal centers resulting in the enlargement of the lymph node.|NCI|N|
C3273230|An inborn metabolic disorder affecting the intermediary metabolism process. It results in accumulation of substances in the body that can cause acute or chronic intoxication.|NCI|N|
C3273231|A finding indicating the formation of calcium oxalate crystal deposits in an organ.|NCI|N|
C3273232|A finding indicating the presence of cadmium mineral deposits in an organ.|NCI|N|
C3273233|A morphologic finding indicating the presence of enlarged muscle cells in a muscle tissue sample.|NCI|N|
C3273239|A lesion in the prostate gland characterized by glandular atrophy, chronic inflammation, and epithelial hyperplasia. It has been suggested that it is a precancerous lesion and it may lead to the development of prostatic intraepithelial neoplasia and prostatic carcinoma.|NCI|N|
C3273240|A necrotizing vasculitis caused by Pseudomonas aeruginosa.|NCI|N|
C3273245|Rejection of a transplanted organ that usually occurs after the first week of the transplantation. The risk of acute rejection is highest in the first three months following transplantation. Morphologically, there is an inflammatory infiltrate composed of lymphocytes and neutrophils and vascular damage in the rejected tissue.|NCI|N|
C3273251|A rare, benign, well-circumscribed salivary gland neoplasm that predominantly affects females. It is characterized by the presence of microcysts, ducts, and acini in a sclerotic stroma. Focal lymphocytic infiltrates may also be present.|NCI|N|
C3273252|A morphologic finding indicating the transformation of glandular or transitional epithelial cells to squamous epithelial cells that lack atypical features.|NCI|N|
C3273253|Karyotype with at least three chromosomal aberrations.|NCI|N|
C3273254|Scarring and atrophy of the renal cortex that occurs in hypertensive patients and in old age.|NCI|N|
C3273255|A molecular finding indicating that the immunoglobulin heavy chain variable region has an unmutated germline configuration.|NCI|N|
C3273258|An inherited disorder that presents with systemic manifestations.|NCI|N|
C3273260|A non-neoplastic disorder that affects the brain. Representative examples include cerebrovascular disorder, hydrocephalus, and encephalitis.|NCI|N|
C3273351|A molecular genetic abnormality that refers to the presence of a mutation in the histone methyltransferase gene EZH2.|NCI|N|
C3273352|A molecular genetic abnormality that refers to the presence of a mutation in the ETV6 gene (ETS variant gene 6).|NCI|N|
C3273353|A molecular genetic abnormality that refers to the presence of a mutation in the ASXL1 gene.|NCI|N|
C3273360|Donor tissue that is removed due to rejection.|NCI|N|
C3273361|A storage disorder that results from impaired metabolism of nickel.|NCI|N|
C3273703|A variation in or modification of the molecular sequence of a gene or gene product.|NCI|N|
C3273704|A variation in the sequence of a specific gene product.|NCI|N|
C3273727|A neuroendocrine carcinoma that arises from the breast. It is characterized by the presence of cellular solid nests and trabeculae that contain spindle-shaped, plasmacytoid, and large neuroendocrine cells.|NCI|N|
C3273928|A radiologic finding that is seen in osteopetrosis. It is characterized by an increased sclerosis in the superior and inferior aspects of the midbody of the vertebra, resulting in the image of a duplicate vertebral body inside the normal one.|NCI|N|
C3273929|A radiologic finding that is detected with frontal chest X-ray or chest CT scan. It is characterized by bilateral perihilar pulmonary shadowing. It is seen in pulmonary edema, pulmonary hemorrhage, pneumonia, carcinoma, and lymphoid malignancies.|NCI|N|
C3273930|A benign or malignant pathologic structure in any part of the body, resulting from a neoplastic accumulation of cells.|NCI|N|
C3273942|A teratoma that arises from the testis or ovary.|NCI|N|
C3273948|A radiologic finding observed during magnetic resonance imaging of brain glioblastoma, following concurrent radiotherapy and temozolomide treatment or vaccine therapy. It refers to the false positive finding of progression and enhancement of the lesion. It is considered a treatment effect due to tumor cell necrosis and subsequent edema formation and increased vascular permeability.|NCI|N|
C3273951|A variation in the amino acid sequence for the RAC-alpha serine/threonine-protein kinase protein.|NCI|N|
C3273952|A change in the nucleotide sequence of the AKT1 gene.|NCI|N|
C3273953|A nucleotide substitution at position 49 of the coding sequence of the AKT1 gene where guanine has been mutated to adenine.|NCI|N|
C3273954|A change in the amino acid residue at position 17 in the RAC-alpha serine/threonine-protein kinase protein where glutamic acid has been replaced by lysine.|NCI|N|
C3273955|A variation in the amino acid sequence for the serine/threonine-protein kinase B-raf protein.|NCI|N|
C3273956|A change in the amino acid residue at position 466 in the serine/threonine protein kinase B-raf protein where glycine has been replaced by alanine.|NCI|N|
C3273957|A nucleotide substitution at position 1397 of the coding sequence of the BRAF gene where guanine has been mutated to cytosine.|NCI|N|
C3273958|A change in the amino acid residue at position 466 in the serine/threonine protein kinase B-raf protein where glycine has been replaced by glutamic acid.|NCI|N|
C3273959|A nucleotide substitution at position 1397 of the coding sequence of the BRAF gene where guanine has been mutated to adenine.|NCI|N|
C3273960|A change in the amino acid residue at position 466 in the serine/threonine protein kinase B-raf protein where glycine has been replaced by arginine.|NCI|N|
C3273961|A nucleotide substitution at position 1396 of the coding sequence of the BRAF gene where guanine has been mutated to cytosine.|NCI|N|
C3273962|A change in the amino acid residue at position 466 in the serine/threonine protein kinase B-raf protein where glycine has been replaced by valine.|NCI|N|
C3273963|A nucleotide substitution at position 1397 of the coding sequence of the BRAF gene where guanine has been mutated to thymine.|NCI|N|
C3273964|A change in the amino acid residue at position 469 in the serine/threonine protein kinase B-raf protein where glycine has been replaced by alanine.|NCI|N|
C3273965|A nucleotide substitution at position 1406 of the coding sequence of the BRAF gene where guanine has been mutated to cytosine.|NCI|N|
C3273966|A change in the amino acid residue at position 469 in the serine/threonine protein kinase B-raf protein where glycine has been replaced by glutamic acid.|NCI|N|
C3273967|A nucleotide substitution at position 1406 of the coding sequence of the BRAF gene where guanine has been mutated to adenine.|NCI|N|
C3273968|A change in the amino acid residue at position 469 in the serine/threonine protein kinase B-raf protein where glycine has been replaced by arginine.|NCI|N|
C3273969|A nucleotide substitution at position 1405 of the coding sequence of the BRAF gene where guanine has been mutated to cytosine.|NCI|N|
C3273970|A nucleotide substitution at position 1405 of the coding sequence of the BRAF gene where guanine has been mutated to adenine.|NCI|N|
C3273971|A change in the amino acid residue at position 469 in the serine/threonine protein kinase B-raf protein where glycine has been replaced by serine.|NCI|N|
C3273972|A complex substitution where the nucleotide sequence at positions 1405 and 1406 of the coding sequence of the BRAF gene has changed from guanine-guanine to thymine-cytosine.|NCI|N|
C3273973|A complex substitution where the nucleotide sequence at positions 1405 through 1407 of the coding sequence of the BRAF gene has changed from guanine-guanine-adenine to adenine-guanine-cytosine.|NCI|N|
C3273974|A complex substitution where the nucleotide sequence at positions 1405 through 1407 of the coding sequence of the BRAF gene has changed from guanine-guanine-adenine to adenine-guanine-thymine.|NCI|N|
C3273975|A change in the amino acid residue at position 469 in the serine/threonine protein kinase B-raf protein where glycine has been replaced by valine.|NCI|N|
C3273976|A nucleotide substitution at position 1406 of the coding sequence of the BRAF gene where guanine has been mutated to thymine.|NCI|N|
C3273977|A nucleotide substitution at position 1791 of the coding sequence of the BRAF gene where adenine has been mutated to guanine.|NCI|N|
C3273978|A change in the amino acid residue at position 597 in the serine/threonine protein kinase B-raf protein where leucine has been replaced by glutamine.|NCI|N|
C3273979|A nucleotide substitution at position 1790 of the coding sequence of the BRAF gene where thymine has been mutated to adenine.|NCI|N|
C3273980|A change in the amino acid residue at position 597 in the serine/threonine protein kinase B-raf protein where leucine has been replaced by arginine.|NCI|N|
C3273981|A nucleotide substitution at position 1790 of the coding sequence of the BRAF gene where thymine has been mutated to guanine.|NCI|N|
C3273982|A change in the amino acid residue at position 597 in the serine/threonine protein kinase B-raf protein where leucine has been replaced by serine.|NCI|N|
C3273983|A complex substitution where the nucleotide sequence at positions 1789 and 1790 of the coding sequence of the BRAF gene has changed from cytosine-thymine to thymine-cytosine.|NCI|N|
C3273984|A change in the amino acid residue at position 597 in the serine/threonine protein kinase B-raf protein where leucine has been replaced by valine.|NCI|N|
C3273985|A nucleotide substitution at position 1789 of the coding sequence of the BRAF gene where cytosine has been mutated to guanine.|NCI|N|
C3273986|A change in the amino acid residue at position 600 in the serine/threonine protein kinase B-raf protein where valine has been replaced by alanine.|NCI|N|
C3273987|A nucleotide substitution at position 1799 of the coding sequence of the BRAF gene where thymine has been mutated to cytosine.|NCI|N|
C3273988|A change in the amino acid residue at position 600 in the serine/threonine protein kinase B-raf protein where valine has been replaced by aspartic acid.|NCI|N|
C3273989|A complex substitution where the nucleotide sequence at positions 1799 and 1780 of the coding sequence of the BRAF gene has changed from thymine-guanine to adenine-thymine.|NCI|N|
C3273990|A change in the amino acid residue at position 600 in the serine/threonine protein kinase B-raf protein where valine has been replaced by glutamic acid.|NCI|N|
C3273991|A complex substitution where the nucleotide sequence at positions 1799 and 1780 of the coding sequence of the BRAF gene has changed from thymine-guanine to adenine-adenine.|NCI|N|
C3273992|A nucleotide substitution at position 1799 of the coding sequence of the BRAF gene where thymine has been mutated to adenine.|NCI|N|
C3273993|A change in the amino acid residue at position 600 in the serine/threonine protein kinase B-raf protein where valine has been replaced by glycine.|NCI|N|
C3273994|A nucleotide substitution at position 1799 of the coding sequence of the BRAF gene where thymine has been mutated to guanine.|NCI|N|
C3273995|A change in the amino acid residue at position 600 in the serine/threonine protein kinase B-raf protein where valine has been replaced by lysine.|NCI|N|
C3273996|A complex substitution where the nucleotide sequence at positions 1798 and 1799 of the coding sequence of the BRAF gene has changed from guanine-thymine to adenine-adenine.|NCI|N|
C3273997|A change in the amino acid residue at position 600 in the serine/threonine protein kinase B-raf protein where valine has been replaced by leucine.|NCI|N|
C3273998|A nucleotide substitution at position 1798 of the coding sequence of the BRAF gene where guanine has been mutated to thymine.|NCI|N|
C3273999|A change in the amino acid residue at position 600 in the serine/threonine protein kinase B-raf protein where valine has been replaced by methionine.|NCI|N|
C3274000|A nucleotide substitution at position 1798 of the coding sequence of the BRAF gene where guanine has been mutated to adenine.|NCI|N|
C3274001|A change in the amino acid residue at position 600 in the serine/threonine protein kinase B-raf protein where valine has been replaced by arginine.|NCI|N|
C3274002|A complex substitution where the nucleotide sequence at positions 1798 and 1799 of the coding sequence of the BRAF gene has changed from guanine-thymine to adenine-guanine.|NCI|N|
C3274003|A complex substitution where the nucleotide sequence at positions 1797 through 1799 of the coding sequence of the BRAF gene has changed from adenine-guanine-thymine to guanine-adenine-guanine.|NCI|N|
C3274004|A variation in the amino acid sequence for the epidermal growth factor receptor protein.|NCI|N|
C3274005|A variation in the amino acid sequence for the receptor tyrosine-protein kinase erbB-2 protein.|NCI|N|
C3274006|A tandem duplication of four amino acids, tyrosine-valine-methionine-alanine, between the alanine at position 775 and the glycine at position 776 of the receptor tyrosine-protein kinase erbB-2 protein.|NCI|N|
C3274007|An insertion of 12 nucleotides, TACGTGATGGCT, between position 2325 and 2326 of the coding sequence of the ERBB2 gene.|NCI|N|
C3274008|An insertion of 12 nucleotides, ATACGTGATGGC, between position 2324 and 2325 of the coding sequence of the ERBB2 gene.|NCI|N|
C3274009|A variation in the amino acid sequence for the GTPase KRas protein.|NCI|N|
C3274010|A change in the amino acid residue at position 12 in the GTPase KRas protein where glycine has been replaced by alanine.|NCI|N|
C3274011|A nucleotide substitution at position 35 of the coding sequence of the KRAS gene where guanine has been mutated to cytosine.|NCI|N|
C3274012|A change in the amino acid residue at position 12 in the GTPase KRas protein where glycine has been replaced by cysteine.|NCI|N|
C3274013|A nucleotide substitution at position 34 of the coding sequence of the KRAS gene where guanine has been mutated to thymine.|NCI|N|
C3274015|A complex substitution where the nucleotide sequence at positions 34 through 36 of the coding sequence of the KRAS gene has changed from guanine-guanine-thymine to thymine-guanine-cytosine.|NCI|N|
C3274016|A change in the amino acid residue at position 12 in the GTPase KRas protein where glycine has been replaced by aspartic acid.|NCI|N|
C3274017|A nucleotide substitution at position 35 of the coding sequence of the KRAS gene where guanine has been mutated to adenine.|NCI|N|
C3274018|A complex substitution where the nucleotide sequence at positions 35 through 36 of the coding sequence of the KRAS gene has changed from guanine-thymine to adenine-cytosine.|NCI|N|
C3274019|A change in the amino acid residue at position 12 in the GTPase KRas protein where glycine has been replaced by glutamic acid.|NCI|N|
C3274020|A complex substitution where the nucleotide sequence at positions 35 through 36 of the coding sequence of the KRAS gene has changed from guanine-thymine to adenine-guanine.|NCI|N|
C3274021|A complex substitution where the nucleotide sequence at positions 35 through 36 of the coding sequence of the KRAS gene has changed from guanine-thymine to adenine-adenine.|NCI|N|
C3274022|A change in the amino acid residue at position 12 in the GTPase KRas protein where glycine has been replaced by phenylalanine.|NCI|N|
C3274023|A complex substitution where the nucleotide sequence at positions 34 through 35 of the coding sequence of the KRAS gene has changed from guanine-guanine to thymine-thymine.|NCI|N|
C3274024|A nucleotide substitution at position 36 of the coding sequence of the KRAS gene where thymine has been mutated to cytosine.|NCI|N|
C3274025|A change in the amino acid residue at position 12 in the GTPase KRas protein where glycine has been replaced by isoleucine.|NCI|N|
C3274026|A complex substitution where the nucleotide sequence at positions 34 through 35 of the coding sequence of the KRAS gene has changed from guanine-guanine to adenine-thymine.|NCI|N|
C3274027|A change in the amino acid residue at position 12 in the GTPase KRas protein where glycine has been replaced by leucine.|NCI|N|
C3274028|A complex substitution where the nucleotide sequence at positions 34 through 35 of the coding sequence of the KRAS gene has changed from guanine-guanine to cytosine-thymine.|NCI|N|
C3274029|A morphologic finding that refers to the accumulation of glial cells encircling neurons in a tissue specimen.|NCI|N|
C3274030|A change in the amino acid residue at position 12 in the GTPase KRas protein where glycine has been replaced by asparagine.|NCI|N|
C3274031|A morphologic finding that refers to the accumulation of glial cells encircling vessels in a tissue specimen.|NCI|N|
C3274032|A complex substitution where the nucleotide sequence at positions 34 through 35 of the coding sequence of the KRAS gene has changed from guanine-guanine to adenine-adenine.|NCI|N|
C3274033|A change in the amino acid residue at position 12 in the GTPase KRas protein where glycine has been replaced by arginine.|NCI|N|
C3274034|A nucleotide substitution at position 34 of the coding sequence of the KRAS gene where guanine has been mutated to cytosine.|NCI|N|
C3274036|A change in the amino acid residue at position 12 in the GTPase KRas protein where glycine has been replaced by serine.|NCI|N|
C3274037|A nucleotide substitution at position 34 of the coding sequence of the KRAS gene where guanine has been mutated to adenine.|NCI|N|
C3274038|A change in the amino acid residue at position 12 in the GTPase KRas protein where glycine has been replaced by valine.|NCI|N|
C3274039|A nucleotide substitution at position 35 of the coding sequence of the KRAS gene where guanine has been mutated to thymine.|NCI|N|
C3274040|A complex substitution where the nucleotide sequence at positions 35 through 36 of the coding sequence of the KRAS gene has changed from guanine-thymine to thymine-cytosine.|NCI|N|
C3274041|A change in the amino acid residue at position 12 in the GTPase KRas protein where glycine has been replaced by tryptophan.|NCI|N|
C3274042|A complex substitution where the nucleotide sequence at positions 34 through 36 of the coding sequence of the KRAS gene has changed from guanine-guanine-thymine to thymine-guanine-guanine.|NCI|N|
C3274043|A change in the amino acid residue at position 12 in the GTPase KRas protein where glycine has been replaced by tyrosine.|NCI|N|
C3274044|A complex substitution where the nucleotide sequence at positions 34 through 35 of the coding sequence of the KRAS gene has changed from guanine-guanine to thymine-adenine.|NCI|N|
C3274046|A change in the amino acid residue at position 13 in the GTPase KRas protein where glycine has been replaced by alanine.|NCI|N|
C3274048|A nucleotide substitution at position 38 of the coding sequence of the KRAS gene where guanine has been mutated to cytosine.|NCI|N|
C3274049|A change in the amino acid residue at position 13 in the GTPase KRas protein where glycine has been replaced by cysteine.|NCI|N|
C3274050|A nucleotide substitution at position 37 of the coding sequence of the KRAS gene where guanine has been mutated to thymine.|NCI|N|
C3274051|A change in the amino acid residue at position 13 in the GTPase KRas protein where glycine has been replaced by aspartic acid.|NCI|N|
C3274052|A nucleotide substitution at position 38 of the coding sequence of the KRAS gene where guanine has been mutated to adenine.|NCI|N|
C3274053|A complex substitution where the nucleotide sequence at positions 38 through 39 of the coding sequence of the KRAS gene has changed from guanine-cytosine to adenine-thymine.|NCI|N|
C3274054|A change in the amino acid residue at position 13 in the GTPase KRas protein where glycine has been replaced by glutamic acid.|NCI|N|
C3274055|A complex substitution where the nucleotide sequence at positions 38 through 39 of the coding sequence of the KRAS gene has changed from guanine-cytosine to adenine-guanine.|NCI|N|
C3274056|A complex substitution where the nucleotide sequence at positions 38 through 39 of the coding sequence of the KRAS gene has changed from guanine-cytosine to adenine-adenine.|NCI|N|
C3274057|A nucleotide substitution at position 39 of the coding sequence of the KRAS gene where cytosine has been mutated to thymine.|NCI|N|
C3274058|A nucleotide substitution at position 39 of the coding sequence of the KRAS gene where cytosine has been mutated to guanine.|NCI|N|
C3274059|A nucleotide substitution at position 39 of the coding sequence of the KRAS gene where cytosine has been mutated to adenine.|NCI|N|
C3274060|A change in the amino acid residue at position 13 in the GTPase KRas protein where glycine has been replaced by asparagine.|NCI|N|
C3274061|A complex substitution where the nucleotide sequence at positions 37 through 38 of the coding sequence of the KRAS gene has changed from guanine-guanine to adenine-adenine.|NCI|N|
C3274062|A change in the amino acid residue at position 13 in the GTPase KRas protein where glycine has been replaced by arginine.|NCI|N|
C3274063|A nucleotide substitution at position 37 of the coding sequence of the KRAS gene where guanine has been mutated to cytosine.|NCI|N|
C3274064|A complex substitution where the nucleotide sequence at positions 37 through 39 of the coding sequence of the KRAS gene has changed from guanine-guanine-cytosine to cytosine-guanine-thymine|NCI|N|
C3274065|A change in the amino acid residue at position 13 in the GTPase KRas protein where glycine has been replaced by serine.|NCI|N|
C3274066|A nucleotide substitution at position 37 of the coding sequence of the KRAS gene where guanine has been mutated to adenine.|NCI|N|
C3274067|A change in the amino acid residue at position 13 in the GTPase KRas protein where glycine has been replaced by valine.|NCI|N|
C3274068|A nucleotide substitution at position 38 of the coding sequence of the KRAS gene where guanine has been mutated to thymine.|NCI|N|
C3274069|A complex substitution where the nucleotide sequence at positions 38 through 39 of the coding sequence of the KRAS gene has changed from guanine-cytosine to thymine-thymine.|NCI|N|
C3274070|A complex substitution where the nucleotide sequence at positions 38 through 39 of the coding sequence of the KRAS gene has changed from guanine-cytosine to thymine-guanine.|NCI|N|
C3274071|A change in the amino acid residue at position 61 in the GTPase KRas protein where glutamine has been replaced by aspartic acid.|NCI|N|
C3274072|A change in the amino acid residue at position 61 in the GTPase KRas protein where glutamine has been replaced by glutamic acid.|NCI|N|
C3274073|A nucleotide substitution at position 181 of the coding sequence of the KRAS gene where cytosine has been mutated to guanine.|NCI|N|
C3274074|A change in the amino acid residue at position 61 in the GTPase KRas protein where glutamine has been replaced by histidine.|NCI|N|
C3274075|A nucleotide substitution at position 183 of the coding sequence of the KRAS gene where adenine has been mutated to thymine.|NCI|N|
C3274076|A nucleotide substitution at position 183 of the coding sequence of the KRAS gene where adenine has been mutated to cytosine.|NCI|N|
C3274077|A change in the amino acid residue at position 61 in the GTPase KRas protein where glutamine has been replaced by lysine.|NCI|N|
C3274078|A nucleotide substitution at position 181 of the coding sequence of the KRAS gene where cytosine has been mutated to adenine.|NCI|N|
C3274079|A complex substitution where the nucleotide sequence at positions 180 through 181 of the coding sequence of the KRAS gene has changed from thymine-cytosine to adenine-adenine.|NCI|N|
C3274080|A complex substitution where the nucleotide sequence at positions 180 through 181 of the coding sequence of the KRAS gene has changed from thymine-cytosine to cytosine-adenine.|NCI|N|
C3274081|A change in the amino acid residue at position 61 in the GTPase KRas protein where glutamine has been replaced by leucine.|NCI|N|
C3274082|A nucleotide substitution at position 182 of the coding sequence of the KRAS gene where adenine has been mutated to thymine.|NCI|N|
C3274083|A change in the amino acid residue at position 61 in the GTPase KRas protein where glutamine has been replaced by proline.|NCI|N|
C3274084|A nucleotide substitution at position 182 of the coding sequence of the KRAS gene where adenine has been mutated to cytosine.|NCI|N|
C3274085|A change in the amino acid residue at position 61 in the GTPase KRas protein where glutamine has been replaced by arginine.|NCI|N|
C3274086|A nucleotide substitution at position 182 of the coding sequence of the KRAS gene where adenine has been mutated to guanine.|NCI|N|
C3274087|A variation in the amino acid sequence for the GTPase NRas protein.|NCI|N|
C3274088|A change in the amino acid residue at position 61 in the GTPase NRas protein where glutamine has been replaced by glutamic acid.|NCI|N|
C3274089|A nucleotide substitution at position 181 of the coding sequence of the NRAS gene where cytosine has been mutated to guanine.|NCI|N|
C3274090|A change in the amino acid residue at position 61 in the GTPase NRas protein where glutamine has been replaced by histidine.|NCI|N|
C3274091|A nucleotide substitution at position 183 of the coding sequence of the NRAS gene where adenine has been mutated to cytosine.|NCI|N|
C3274092|A nucleotide substitution at position 183 of the coding sequence of the NRAS gene where adenine has been mutated to thymine.|NCI|N|
C3274093|A change in the amino acid residue at position 61 in the GTPase NRas protein where glutamine has been replaced by lysine.|NCI|N|
C3274094|A nucleotide substitution at position 181 of the coding sequence of the NRAS gene where cytosine has been mutated to adenine.|NCI|N|
C3274095|A complex substitution where the nucleotide sequence at positions 180 through 181 of the coding sequence of the NRAS gene has changed from adenine-cytosine to thymine-adenine.|NCI|N|
C3274096|A complex substitution where the nucleotide sequence at positions 181 through 183 of the coding sequence of the NRAS gene has changed from cytosine-adenine-adenine to adenine-adenine-guanine.|NCI|N|
C3274097|A change in the amino acid residue at position 61 in the GTPase NRas protein where glutamine has been replaced by leucine.|NCI|N|
C3274098|A nucleotide substitution at position 182 of the coding sequence of the NRAS gene where adenine has been mutated to thymine.|NCI|N|
C3274099|A complex substitution where the nucleotide sequence at positions 181 through 182 of the coding sequence of the NRAS gene has changed from cytosine-adenine to thymine-thymine.|NCI|N|
C3274100|A complex substitution where the nucleotide sequence at positions 182 through 183 of the coding sequence of the NRAS gene has changed from adenine-adenine to thymine-guanine.|NCI|N|
C3274101|A change in the amino acid residue at position 61 in the GTPase NRas protein where glutamine has been replaced by proline.|NCI|N|
C3274102|A nucleotide substitution at position 182 of the coding sequence of the NRAS gene where adenine has been mutated to cytosine.|NCI|N|
C3274103|A nucleotide substitution at position 183 of the coding sequence of the NRAS gene where adenine has been mutated to guanine.|NCI|N|
C3274104|A change in the amino acid residue at position 61 in the GTPase NRas protein where glutamine has been replaced by arginine.|NCI|N|
C3274105|A nucleotide substitution at position 182 of the coding sequence of the NRAS gene where adenine has been mutated to guanine.|NCI|N|
C3274106|A complex substitution where the nucleotide sequence at positions 181 through 182 of the coding sequence of the NRAS gene has changed from cytosine-adenine to adenine-guanine.|NCI|N|
C3274107|A complex substitution where the nucleotide sequence at positions 182 through 183 of the coding sequence of the NRAS gene has changed from adenine-adenine to guanine-guanine.|NCI|N|
C3274108|A variation in the amino acid sequence for the phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha isoform protein.|NCI|N|
C3274109|A change in the amino acid residue at position 545 in the phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha isoform protein where glutamic acid has been replaced by alanine.|NCI|N|
C3274110|A nucleotide substitution at position 1634 of the coding sequence of the PIK3CA gene where adenine has been mutated to cytosine.|NCI|N|
C3274111|A change in the amino acid residue at position 545 in the phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha isoform protein where glutamic acid has been replaced by aspartic acid.|NCI|N|
C3274112|A nucleotide substitution at position 1635 of the coding sequence of the PIK3CA gene where guanine has been mutated to thymine.|NCI|N|
C3274113|A nucleotide substitution at position 1635 of the coding sequence of the PIK3CA gene where guanine has been mutated to cytosine.|NCI|N|
C3274114|A change in the amino acid residue at position 545 in the phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha isoform protein where glutamic acid has been replaced by glycine.|NCI|N|
C3274115|A nucleotide substitution at position 1634 of the coding sequence of the PIK3CA gene where adenine has been mutated to guanine.|NCI|N|
C3274116|A change in the amino acid residue at position 545 in the phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha isoform protein where glutamic acid has been replaced by lysine.|NCI|N|
C3274117|A nucleotide substitution at position 1633 of the coding sequence of the PIK3CA gene where guanine has been mutated to adenine.|NCI|N|
C3274118|A change in the amino acid residue at position 545 in the phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha isoform protein where glutamic acid has been replaced by glutamine.|NCI|N|
C3274119|A nucleotide substitution at position 1633 of the coding sequence of the PIK3CA gene where guanine has been mutated to cytosine.|NCI|N|
C3274120|A change in the amino acid residue at position 545 in the phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha isoform protein where glutamic acid has been replaced by valine.|NCI|N|
C3274121|A nucleotide substitution at position 1634 of the coding sequence of the PIK3CA gene where adenine has been mutated to thymine.|NCI|N|
C3274122|A change in the amino acid residue at position 542 in the phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha isoform protein where glutamic acid has been replaced by lysine.|NCI|N|
C3274123|A nucleotide substitution at position 1624 of the coding sequence of the PIK3CA gene where guanine has been mutated to adenine.|NCI|N|
C3274124|A change in the amino acid residue at position 542 in the phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha isoform protein where glutamic acid has been replaced by glutamine.|NCI|N|
C3274125|A nucleotide substitution at position 1624 of the coding sequence of the PIK3CA gene where guanine has been mutated to cytosine.|NCI|N|
C3274126|A change in the amino acid residue at position 542 in the phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha isoform protein where glutamic acid has been replaced by valine.|NCI|N|
C3274127|A nucleotide substitution at position 1625 of the coding sequence of the PIK3CA gene where adenine has been mutated to thymine.|NCI|N|
C3274128|A change in the amino acid residue at position 1047 in the phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha isoform protein where histidine has been replaced by leucine.|NCI|N|
C3274129|A nucleotide substitution at position 3140 of the coding sequence of the PIK3CA gene where adenine has been mutated to thymine.|NCI|N|
C3274130|A change in the amino acid residue at position 1047 in the phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha isoform protein where histidine has been replaced by glutamine.|NCI|N|
C3274131|A nucleotide substitution at position 3141 of the coding sequence of the PIK3CA gene where thymine has been mutated to guanine.|NCI|N|
C3274132|A change in the amino acid residue at position 1047 in the phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha isoform protein where histidine has been replaced by arginine.|NCI|N|
C3274133|A nucleotide substitution at position 3140 of the coding sequence of the PIK3CA gene where adenine has been mutated to guanine.|NCI|N|
C3274134|A change in the amino acid residue at position 1047 in the phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha isoform protein where histidine has been replaced by threonine.|NCI|N|
C3274135|A change in the amino acid residue at position 1047 in the phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha isoform protein where histidine has been replaced by tyrosine.|NCI|N|
C3274137|A well differentiated neuroendocrine tumor that arises from the stomach. It produces serotonin and it may occasionally be found in association with a carcinoid syndrome.|NCI|N|
C3274138|A neuroendocrine tumor arising from the wall of the appendix, producing glucagon-like peptides. Morphologically, it is characterized by the presence of neoplastic cells forming tubular or trabecular patterns.|NCI|N|
C3274139|A neuroendocrine tumor that arises from the colon and produces glucagon-like peptides. Morphologically, it is characterized by the presence of neoplastic cells forming tubular or trabecular patterns.|NCI|N|
C3274140|A neuroendocrine tumor that arises from the gastrointestinal tract and produces glucagon-like peptides. Morphologically, it is characterized by the presence of neoplastic cells forming tubular or trabecular patterns.|NCI|N|
C3274141|A gastrin-producing neuroendocrine tumor that arises from the small intestine. It is characterized by the presence of uniform cells that form pseudorosettes. The neoplastic cells have uniform nuclei and small amount of eosinophilic cytoplasm.|NCI|N|
C3274142|A well differentiated neuroendocrine tumor that arises from the small intestine and produces serotonin.|NCI|N|
C3274143|A neuroendocrine tumor that arises from the small intestine and produces glucagon-like peptides. Morphologically, it is characterized by the presence of neoplastic cells forming tubular or trabecular patterns.|NCI|N|
C3274179|A nucleotide substitution at position 3139 of the coding sequence of the PIK3CA gene where cytosine has been mutated to thymine.|NCI|N|
C3274180|A change in the amino acid residue at position 420 in the phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha isoform protein where cysteine has been replaced by arginine.|NCI|N|
C3274181|A nucleotide substitution at position 1258 of the coding sequence of the PIK3CA gene where thymine has been mutated to cytosine.|NCI|N|
C3274182|A change in the amino acid residue at position 542 in the phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha isoform protein where glutamic acid has been replaced by glycine.|NCI|N|
C3274183|A nucleotide substitution at position 1625 of the coding sequence of the PIK3CA gene where adenine has been mutated to guanine.|NCI|N|
C3274184|A change in the amino acid residue at position 861 in the epidermal growth factor receptor protein where leucine has been replaced by phenylalanine.|NCI|N|
C3274185|A change in the amino acid residue at position 861 in the epidermal growth factor receptor protein where leucine has been replaced by proline.|NCI|N|
C3274186|A change in the amino acid residue at position 861 in the epidermal growth factor receptor protein where leucine has been replaced by glutamine.|NCI|N|
C3274187|A nucleotide substitution at position 2582 of the coding sequence of the EGFR gene where thymine has been mutated to adenine.|NCI|N|
C3274188|A change in the amino acid residue at position 861 in the epidermal growth factor receptor protein where leucine has been replaced by arginine.|NCI|N|
C3274189|A nucleotide substitution at position 2582 of the coding sequence of the EGFR gene where thymine has been mutated to guanine.|NCI|N|
C3274190|A change in the amino acid residue at position 861 in the epidermal growth factor receptor protein where leucine has been replaced by valine.|NCI|N|
C3274191|A nucleotide substitution at position 2581 of the coding sequence of the EGFR gene where cytosine has been mutated to guanine.|NCI|N|
C3274192|A change in the amino acid residue at position 790 in the epidermal growth factor receptor protein where threonine has been replaced by methionine.|NCI|N|
C3274193|A nucleotide substitution at position 2369 of the coding sequence of the EGFR gene where cytosine has been mutated to thymine.|NCI|N|
C3274194|A change in the amino acid residue at position 858 in the epidermal growth factor receptor protein where leucine has been replaced by alanine.|NCI|N|
C3274195|A change in the amino acid residue at position 858 in the epidermal growth factor receptor protein where leucine has been replaced by glycine.|NCI|N|
C3274196|A change in the amino acid residue at position 858 in the epidermal growth factor receptor protein where leucine has been replaced by lysine.|NCI|N|
C3274197|A complex substitution where the nucleotide sequence at positions 2572 and 2573 of the coding sequence of the EGFR gene has changed from cytosine-thymine to adenine-adenine.|NCI|N|
C3274198|A nucleotide substitution at position 2572 of the coding sequence of the EGFR gene where cytosine has been mutated to thymine.|NCI|N|
C3274199|A change in the amino acid residue at position 858 in the epidermal growth factor receptor protein where leucine has been replaced by methionine.|NCI|N|
C3274200|A nucleotide substitution at position 2572 of the coding sequence of the EGFR gene where cytosine has been mutated to adenine.|NCI|N|
C3274201|A change in the amino acid residue at position 858 in the epidermal growth factor receptor protein where leucine has been replaced by proline.|NCI|N|
C3274202|A change in the amino acid residue at position 858 in the epidermal growth factor receptor protein where leucine has been replaced by glutamine.|NCI|N|
C3274203|A nucleotide substitution at position 2573 of the coding sequence of the EGFR gene where thymine has been mutated to adenine.|NCI|N|
C3274204|A change in the amino acid residue at position 858 in the epidermal growth factor receptor protein where leucine has been replaced by arginine.|NCI|N|
C3274205|A nucleotide substitution at position 2573 of the coding sequence of the EGFR gene where thymine has been mutated to guanine.|NCI|N|
C3274206|A complex substitution where the nucleotide sequence at positions 2573 and 2574 of the coding sequence of the EGFR gene has changed from thymine-guanine to guanine-thymine.|NCI|N|
C3274207|A complex substitution where the nucleotide sequence at positions 2572 and 2573 of the coding sequence of the EGFR gene has changed from cytosine-thymine to adenine-guanine.|NCI|N|
C3274208|A change in the amino acid residue at position 858 in the epidermal growth factor receptor protein where leucine has been replaced by tryptophan.|NCI|N|
C3274209|A change in the amino acid residue at position 719 in the epidermal growth factor receptor protein where glycine has been replaced by alanine.|NCI|N|
C3274210|A nucleotide substitution at position 2156 of the coding sequence of the EGFR gene where guanine has been mutated to cytosine.|NCI|N|
C3274211|A change in the amino acid residue at position 719 in the epidermal growth factor receptor protein where glycine has been replaced by cysteine.|NCI|N|
C3274212|A nucleotide substitution at position 2155 of the coding sequence of the EGFR gene where guanine has been mutated to thymine.|NCI|N|
C3274213|A complex substitution where the nucleotide sequence at positions 2154 and 2155 of the coding sequence of the EGFR gene has changed from guanine-guanine to thymine-thymine.|NCI|N|
C3274214|A change in the amino acid residue at position 719 in the epidermal growth factor receptor protein where glycine has been replaced by aspartic acid.|NCI|N|
C3274215|A nucleotide substitution at position 2156 of the coding sequence of the EGFR gene where guanine has been mutated to adenine.|NCI|N|
C3274216|A change in the amino acid residue at position 719 in the epidermal growth factor receptor protein where glycine has been replaced by serine.|NCI|N|
C3274217|A nucleotide substitution at position 2155 of the coding sequence of the EGFR gene where guanine has been mutated to adenine.|NCI|N|
C3274218|A change in the amino acid residue at position 719 in the epidermal growth factor receptor protein where glycine has been replaced by valine.|NCI|N|
C3274219|A change in the amino acid composition of the epidermal growth factor receptor protein where a frame shift mutation results in the placement of a stop codon just after the glutamic acid residue at position 709.|NCI|N|
C3274220|A deletion five nucleotides, guanine-adenine-adenine-adenine-cytosine starting at position 2125 and ending with position 2129 of the coding sequence of the EGFR gene.|NCI|N|
C3274221|A change in the amino acid composition of the epidermal growth factor receptor protein where a frameshift mutation results in the insertion of 28 non-canonic amino acids followed by a stop codon after the glycine residue at position 719.|NCI|N|
C3274222|A deletion of a guanine at position 2156 from the coding sequence of the EGFR gene.|NCI|N|
C3274223|A deletion of six amino acids from the epidermal growth factor receptor protein from the lysine at position 745 through the alanine at position 750.|NCI|N|
C3274224|A deletion of five amino acids from the epidermal growth factor receptor protein from the lysine at position 745 through the glutamic acid at position 749.|NCI|N|
C3274225|A deletion of 15 nucleotides from the coding sequence of the EGFR gene from position 2233 through 2247.|NCI|N|
C3274226|A deletion of five amino acids from the epidermal growth factor receptor protein from the glutamic acid at position 746 through the alanine at position 750.|NCI|N|
C3274227|A deletion of three amino acids from the epidermal growth factor receptor protein from the lysine at position 745 through the leucine at position 747.|NCI|N|
C3274228|A deletion of 15 nucleotides from the coding sequence of the EGFR gene from position 2236 through 2250.|NCI|N|
C3274229|A deletion of 15 nucleotides from the coding sequence of the EGFR gene from position 2235 through 2249.|NCI|N|
C3274230|A deletion of four amino acids from the epidermal growth factor receptor protein from the glutamic acid at position 746 through the glutamic acid at position 749.|NCI|N|
C3274231|A deletion of 12 nucleotides from the coding sequence of the EGFR gene from position 2235 through 2246.|NCI|N|
C3274232|A deletion of eight amino acids from the epidermal growth factor receptor protein from the glutamic acid at position 746 through the proline at position 753.|NCI|N|
C3274233|A deletion of three amino acids from the epidermal growth factor receptor protein from the glutamic acid at position 746 through the arginine at position 748.|NCI|N|
C3274234|A deletion of seven amino acids from the epidermal growth factor receptor protein from the glutamic acid at position 746 through the alanine at position 752.|NCI|N|
C3274235|A deletion of six amino acids from the epidermal growth factor receptor protein from the glutamic acid at position 746 through the threonine at position 751.|NCI|N|
C3274236|A deletion of 18 nucleotides from the coding sequence of the EGFR gene from position 2236 through 2253.|NCI|N|
C3274237|A deletion of 18 nucleotides from the coding sequence of the EGFR gene from position 2235 through 2252.|NCI|N|
C3274238|A deletion of the glutamic acid at position 746 from the epidermal growth factor receptor protein.|NCI|N|
C3274239|A deletion of three nucleotides from the coding sequence of the EGFR gene from position 2234 through 2246.|NCI|N|
C3274240|A deletion of four amino acids from the epidermal growth factor receptor protein from the leucine at position 747 through the alanine at position 750.|NCI|N|
C3274241|A deletion of nine amino acids from the epidermal growth factor receptor protein from the leucine at position 747 through the alanine at position 755.|NCI|N|
C3274242|A deletion of three amino acids from the epidermal growth factor receptor protein from the leucine at position 747 through the glutamic acid at position 749.|NCI|N|
C3274243|A deletion of nine nucleotides from the coding sequence of the EGFR gene from position 2239 through 2247.|NCI|N|
C3274244|A deletion of eight amino acids from the epidermal growth factor receptor protein from the leucine at position 747 through the lysine at position 754.|NCI|N|
C3274245|A deletion of 24 nucleotides from the coding sequence of the EGFR gene from position 2239 through 2262.|NCI|N|
C3274246|A deletion of seven amino acids from the epidermal growth factor receptor protein from the leucine at position 747 through the proline at position 753.|NCI|N|
C3274247|A deletion of six amino acids from the epidermal growth factor receptor protein from the leucine at position 747 through the serine at position 752.|NCI|N|
C3274248|A deletion of 18 nucleotides from the coding sequence of the EGFR gene from position 2239 through 2256.|NCI|N|
C3274249|A deletion of five amino acids from the epidermal growth factor receptor protein from the leucine at position 747 through the threonine at position 751.|NCI|N|
C3274250|A deletion of 15 nucleotides from the coding sequence of the EGFR gene from position 2239 through 2253.|NCI|N|
C3274251|A deletion of 15 nucleotides from the coding sequence of the EGFR gene from position 2240 through 2254.|NCI|N|
C3274252|A deletion of 15 nucleotides from the coding sequence of the EGFR gene from position 2238 through 2252.|NCI|N|
C3274253|A deletion of the leucine at position 747 from the epidermal growth factor receptor protein.|NCI|N|
C3274254|A deletion of six amino acids from the epidermal growth factor receptor protein from the arginine at position 748 through the proline at position 753.|NCI|N|
C3274255|A deletion of five amino acids from the epidermal growth factor receptor protein from the arginine at position 748 through the serine at position 752.|NCI|N|
C3274256|A deletion of nine amino acids from the epidermal growth factor receptor protein from the alanine at position 750 through the glutamic acid at position 758.|NCI|N|
C3274257|A deletion of 27 nucleotides from the coding sequence of the EGFR gene from position 2247 through 2273.|NCI|N|
C3274258|A deletion of five amino acids from the epidermal growth factor receptor protein from the alanine at position 750 through the lysine at position 754.|NCI|N|
C3274259|A deletion of 15 nucleotides from the coding sequence of the EGFR gene from position 2246 through 2260.|NCI|N|
C3274260|A deletion of eight amino acids from the epidermal growth factor receptor protein from the alanine at position 750 through the lysine at position 757.|NCI|N|
C3274261|A deletion of eight amino acids from the epidermal growth factor receptor protein from the threonine at position 751 through the glutamic acid at position 758.|NCI|N|
C3274262|A deletion of 24 nucleotides from the coding sequence of the EGFR gene from position 2250 through 2273.|NCI|N|
C3274263|A deletion of eight amino acids from the epidermal growth factor receptor protein from the serine at position 752 through the isoleucine at position 759.|NCI|N|
C3274264|A deletion of 24 nucleotides from the coding sequence of the EGFR gene from position 2254 through 2277.|NCI|N|
C3274265|A deletion of 24 nucleotides from the coding sequence of the EGFR gene from position 2253 through 2276.|NCI|N|
C3274266|A deletion of 18 amino acids from the epidermal growth factor receptor protein from the serine at position 752 through the valine at position 769.|NCI|N|
C3274267|A deletion of seven amino acids from the epidermal growth factor receptor protein from the proline at position 753 through the isoleucine at position 759.|NCI|N|
C3274268|A deletion of 21 nucleotides from the coding sequence of the EGFR gene from position 2257 through 2277.|NCI|N|
C3274269|A deletion of five amino acids from the epidermal growth factor receptor protein from the asparagine at position 756 through the leucine at position 760.|NCI|N|
C3274270|A deletion of the valine at position 774 from the epidermal growth factor receptor protein.|NCI|N|
C3274271|A deletion of four amino acids from the epidermal growth factor receptor protein from the isoleucine at position 789 through the leucine at position 792.|NCI|N|
C3274272|A deletion of the valine at position 834 from the epidermal growth factor receptor protein.|NCI|N|
C3274273|Total anomalous pulmonary venous return in which the pulmonary veins drain into the right atrium via the superior vena cava.|NCI|N|
C3274274|An insertion of the amino acid sequence proline-valine-alanine-isoleucine-lysine-isoleucine between the isoleucine at position 740 and the proline at position 741 of the epidermal growth factor receptor protein.|NCI|N|
C3274275|Total anomalous pulmonary venous return in which the pulmonary veins drain into the right atrium via the coronary sinus.|NCI|N|
C3274276|An insertion of 18 nucleotides, TCCCGTCGCTATTAAAAT, between position 2219 and 2220 of the coding sequence of the EGFR gene.|NCI|N|
C3274277|An insertion of the amino acid sequence lysine-isoleucine-proline-valine-alanine-isoleucine between the isoleucine at position 744 and the lysine at position 745 of the epidermal growth factor receptor protein.|NCI|N|
C3274278|An insertion of 18 nucleotides, TAAAATTCCCGTCGCTAT, between position 2231 and 2232 of the coding sequence of the EGFR gene.|NCI|N|
C3274279|An insertion of 18 nucleotides, AAAATTCCCGTCGCTATC, between position 2232 and 2233 of the coding sequence of the EGFR gene.|NCI|N|
C3274280|Total anomalous pulmonary venous return in which the common pulmonary vein connects to the portal venous system through the diaphragm.|NCI|N|
C3274281|Total anomalous pulmonary venous return in which the right and left pulmonary arteries drain into different sites.|NCI|N|
C3274282|An insertion of the amino acid sequence valine-proline-valine-alanine-isoleucine-lysine between the lysine at position 745 and the glutamic acid at position 746 of the epidermal growth factor receptor protein.|NCI|N|
C3274283|An insertion of 18 nucleotides, TTCCCGTCGCTATCAAGG, between position 2236 and 2237 of the coding sequence of the EGFR gene.|NCI|N|
C3274284|An insertion of the amino acid sequence glutamic acid-alanine-phenylalanine-glutamine between the aspartic acid at position 761 and the glutamic acid at position 762 of the epidermal growth factor receptor protein.|NCI|N|
C3274286|An insertion of 12 nucleotides, GAAGCCTTCCAG, between position 2283 and 2284 of the coding sequence of the EGFR gene.|NCI|N|
C3274287|An insertion of the amino acid sequence histidine-histidine between the tyrosine at position 764 and the valine at position 765 of the epidermal growth factor receptor protein.|NCI|N|
C3274288|An insertion of the amino acid sequence methionine-alanine-serine between the valine at position 765 and the methionine at position 766 of the epidermal growth factor receptor protein.|NCI|N|
C3274289|An insertion of the amino acid sequence alanine-isoleucine between the methionine at position 766 and the alanine at position 767 of the epidermal growth factor receptor protein.|NCI|N|
C3274290|An insertion of six nucleotides, guanine-cytosine-cytosine-adenine-thymine-adenine, between position 2232 and 2233 of the coding sequence of the EGFR gene.|NCI|N|
C3274291|An insertion of the amino acid sequence threonine-leucine-alanine between the alanine at position 767 and the serine at position 768 of the epidermal growth factor receptor protein.|NCI|N|
C3274292|An insertion of nine nucleotides, CGCTGGCCA, between position 2302 and 2303 of the coding sequence of the EGFR gene.|NCI|N|
C3274293|An insertion of the amino acid sequence phenylalanine-glutamine-glutamic acid-alanine between the alanine at position 763 and the tyrosine at position 764 of the epidermal growth factor receptor protein.|NCI|N|
C3274294|An insertion of 12 nucleotides, TCCAGGAAGCCT, between position 2302 and 2303 of the coding sequence of the EGFR gene.|NCI|N|
C3274295|An insertion of the amino acid sequence alanine-tryptophan-threonine between the serine at position 768 and the valine at position 769 of the epidermal growth factor receptor protein.|NCI|N|
C3274296|An insertion of the amino acid sequence valine-alanine-serine between the serine at position 768 and the valine at position 769 of the epidermal growth factor receptor protein.|NCI|N|
C3274297|An insertion of nine nucleotides, TGTGGCCAG, between position 2303 and 2304 of the coding sequence of the EGFR gene.|NCI|N|
C3274298|An insertion of the amino acid sequence alanine-serine-valine between the valine at position 769 and the aspartic acid at position 770 of the epidermal growth factor receptor protein.|NCI|N|
C3274299|An insertion of nine nucleotides, GCCAGCGTG, between position 2307 and 2308 of the coding sequence of the EGFR gene.|NCI|N|
C3274300|An insertion of nine nucleotides, CCAGCGTGG, between position 2308 and 2309 of the coding sequence of the EGFR gene.|NCI|N|
C3274301|A rare hepatic disease characterized by intrahepatic cholestasis and deterioration of liver function in patients receiving parenteral nutrition for extended periods of time (signs may appear as early as within the first two weeks of initiation of parenteral nutrition). The condition commonly occurs in neonates and usually resolves with transition to enteral feeding, although severe cases may progress to liver fibrosis, cirrhosis, and portal hypertension.|ORDO|N|
C3274302|A complex substitution where the deletion of the nucleotide sequence adenine-cytosine at positions 2309 and 2310 of the coding sequence of the EGFR gene is followed by the insertion of 11 nucleotides, CCAGCGTGGAT.|NCI|N|
C3274303|An insertion of the amino acid sequence cysteine-valine between the valine at position 769 and the aspartic acid at position 770 of the epidermal growth factor receptor protein.|NCI|N|
C3274304|An insertion of six nucleotides, thymine-guanine-cytosine-guanine-thymine-guanine, between position 2307 and 2308 of the coding sequence of the EGFR gene.|NCI|N|
C3274305|An insertion of the amino acid sequence aspartic acid-asparagine-valine between the valine at position 769 and the aspartic acid at position 770 of the epidermal growth factor receptor protein.|NCI|N|
C3274306|An insertion of nine nucleotides, GACAACGTG, between position 2307 and 2308 of the coding sequence of the EGFR gene.|NCI|N|
C3274307|An insertion of the amino acid sequence glycine-serine-valine between the valine at position 769 and the aspartic acid at position 770 of the epidermal growth factor receptor protein.|NCI|N|
C3274308|An insertion of nine nucleotides, GCAGCGTGG, between position 2308 and 2309 of the coding sequence of the EGFR gene.|NCI|N|
C3274309|An insertion of the amino acid sequence glycine-valine between the valine at position 769 and the aspartic acid at position 770 of the epidermal growth factor receptor protein.|NCI|N|
C3274310|A rare congenital or acquired abnormality characterized by the presence of a web-like thin layer of tissue that narrows the lumen of the trachea. It may result in wheezing, dyspnea, and respiratory failure.|NCI|N|
C3274311|An insertion of the amino acid sequence glycine-valine-valine between the valine at position 769 and the aspartic acid at position 770 of the epidermal growth factor receptor protein.|NCI|N|
C3274312|An insertion of nine nucleotides, GGGTCGTGG, between position 2308 and 2309 of the coding sequence of the EGFR gene.|NCI|N|
C3274313|An insertion of the amino acid sequence methionine-alanine-serine-valine-aspartic acid between the valine at position 769 and the aspartic acid at position 770 of the epidermal growth factor receptor protein.|NCI|N|
C3274314|An insertion of 15 nucleotides, ATGGCCAGCGTGGAC, between position 2307 and 2308 of the coding sequence of the EGFR gene.|NCI|N|
C3274315|An insertion of the amino acid sequence alanine-proline-tryptophan between the aspartic acid at position 770 and the asparagine at position 771 of the epidermal growth factor receptor protein.|NCI|N|
C3274316|An insertion of nine nucleotides, GCACCGTGG, between position 2310 and 2311 of the coding sequence of the EGFR gene.|NCI|N|
C3274317|An insertion of the amino acid aspartic acid between the aspartic acid at position 770 and the asparagine at position 771 of the epidermal growth factor receptor protein.|NCI|N|
C3274318|An insertion of the amino acid sequence aspartic acid-glycine between the aspartic acid at position 770 and the asparagine at position 771 of the epidermal growth factor receptor protein.|NCI|N|
C3274319|An insertion of six nucleotides, adenine-cytosine-guanine-guanine-cytosine-guanine, between position 2308 and 2309 of the coding sequence of the EGFR gene.|NCI|N|
C3274320|An insertion of the amino acid glycine between the aspartic acid at position 770 and the asparagine at position 771 of the epidermal growth factor receptor protein.|NCI|N|
C3274321|An insertion of three nucleotides, guanine-guanine-thymine, between position 2310 and 2311 of the coding sequence of the EGFR gene.|NCI|N|
C3274322|An insertion of three nucleotides, guanine-guanine-cytosine, between position 2310 and 2311 of the coding sequence of the EGFR gene.|NCI|N|
C3274323|An insertion of the amino acid sequence glycine-aspartic acid between the aspartic acid at position 770 and the asparagine at position 771 of the epidermal growth factor receptor protein.|NCI|N|
C3274324|An insertion of six nucleotides, guanine-guanine-guanine-guanine-adenine-cytosine, between position 2310 and 2311 of the coding sequence of the EGFR gene.|NCI|N|
C3274325|An insertion of the amino acid sequence glycine-leucine between the aspartic acid at position 770 and the asparagine at position 771 of the epidermal growth factor receptor protein.|NCI|N|
C3274326|An insertion of six nucleotides, guanine-guanine-guanine-thymine-thymine-adenine, between position 2310 and 2311 of the coding sequence of the EGFR gene.|NCI|N|
C3274327|An insertion of the amino acid sequence methionine-alanine-threonine-proline between the aspartic acid at position 770 and the asparagine at position 771 of the epidermal growth factor receptor protein.|NCI|N|
C3274328|An insertion of 12 nucleotides, TGGCCACCCCCA, between position 2311 and 2312 of the coding sequence of the EGFR gene.|NCI|N|
C3274329|An insertion of the amino acid asparagine between the aspartic acid at position 770 and the asparagine at position 771 of the epidermal growth factor receptor protein.|NCI|N|
C3274330|An insertion of three nucleotides, adenine-adenine-cytosine, between position 2310 and 2311 of the coding sequence of the EGFR gene.|NCI|N|
C3274331|An insertion of the amino acid sequence asparagine-proline-histidine between the aspartic acid at position 770 and the asparagine at position 771 of the epidermal growth factor receptor protein.|NCI|N|
C3274332|An insertion of nine nucleotides, AACCCCCAC, between position 2310 and 2311 of the coding sequence of the EGFR gene.|NCI|N|
C3274333|An insertion of the amino acid sequence serine-valine-aspartic acid between the aspartic acid at position 770 and the asparagine at position 771 of the epidermal growth factor receptor protein.|NCI|N|
C3274334|An insertion of nine nucleotides, GCGTGGACA, between position 2311 and 2312 of the coding sequence of the EGFR gene.|NCI|N|
C3274335|An insertion of nine nucleotides, AGCGTGGAC, between position 2310 and 2311 of the coding sequence of the EGFR gene.|NCI|N|
C3274336|Vesicoureteral reflux into the ureter only.|HPO|N|
C3274337|Vesicoureteral reflux into a non-dilated pyelocalyceal system.|HPO|N|
C3274338|Vesicoureteral reflux with dilatation of the collecting system.|HPO|N|
C3274339|Vesicoureteral reflux with more-extensive dilation with blunting of the calyces and tortuosity of the ureter.|HPO|N|
C3274340|Vesicoureteral reflux with massive dilation of the collecting system and severe tortuosity of the ureter.|HPO|N|
C3274341|An insertion of the amino acid sequence serine-valine-proline between the aspartic acid at position 770 and the asparagine at position 771 of the epidermal growth factor receptor protein.|NCI|N|
C3274342|An insertion of the amino acid sequence serine-valine-glutamine between the aspartic acid at position 770 and the asparagine at position 771 of the epidermal growth factor receptor protein.|NCI|N|
C3274343|A change in the amino acid composition of the epidermal growth factor receptor protein where a frameshift mutation results in the insertion of 60 non-canonic amino acids followed by a stop codon after the aspartic acid residue at position 770.|NCI|N|
C3274344|An insertion of 14 nucleotides, ATGGCCAGCGTGGA, between position 2309 and 2310 of the coding sequence of the EGFR gene.|NCI|N|
C3274345|An insertion of the amino acid histidine between the asparagine at position 771 and the proline at position 772 of the epidermal growth factor receptor protein.|NCI|N|
C3274346|An insertion of the amino acid asparagine between the asparagine at position 771 and the proline at position 772 of the epidermal growth factor receptor protein.|NCI|N|
C3274347|An insertion of 3 nucleotides, AAC, between position 2313 and 2314 of the coding sequence of the EGFR gene.|NCI|N|
C3274348|An insertion of the amino acid sequence aspartic acid-histidine-proline between the proline at position 772 and the histidine at position 773 of the epidermal growth factor receptor protein.|NCI|N|
C3274349|An insertion of the amino acid sequence proline-arginine between the proline at position 772 and the histidine at position 773 of the epidermal growth factor receptor protein.|NCI|N|
C3274350|An insertion of the amino acid sequence aspartic acid-asparagine-proline between the proline at position 772 and the histidine at position 773 of the epidermal growth factor receptor protein.|NCI|N|
C3274351|An insertion of the amino acid sequence glutamine-valine between the proline at position 772 and the histidine at position 773 of the epidermal growth factor receptor protein.|NCI|N|
C3274352|An insertion of the amino acid sequence tyrosine-asparagine-proline between the proline at position 772 and the histidine at position 773 of the epidermal growth factor receptor protein.|NCI|N|
C3274353|An insertion of the amino acid sequence threonine-histidine-proline between the proline at position 772 and the histidine at position 773 of the epidermal growth factor receptor protein.|NCI|N|
C3274354|An insertion of nine nucleotides, GACACACCC, between position 2315 and 2316 of the coding sequence of the EGFR gene.|NCI|N|
C3274355|An insertion of the amino acid glycine between the histidine at position 773 and the valine at position 774 of the epidermal growth factor receptor protein.|NCI|N|
C3274356|An insertion of the amino acid sequence glycine-histidine between the histidine at position 773 and the valine at position 774 of the epidermal growth factor receptor protein.|NCI|N|
C3274357|An insertion of the amino acid sequence glycine-asparagine-proline-histidine between the histidine at position 773 and the valine at position 774 of the epidermal growth factor receptor protein.|NCI|N|
C3274358|An insertion of 12 nucleotides, GCAACCCCCACG, between position 2320 and 2321 of the coding sequence of the EGFR gene.|NCI|N|
C3274359|An insertion of the amino acid histidine between the histidine at position 773 and the valine at position 774 of the epidermal growth factor receptor protein.|NCI|N|
C3274360|An insertion of three nucleotides, cytosine-adenine-cytosine, between position 2319 and 2320 of the coding sequence of the EGFR gene.|NCI|N|
C3274361|An insertion of the amino acid sequence asparagine-proline-histidine between the histidine at position 773 and the valine at position 774 of the epidermal growth factor receptor protein.|NCI|N|
C3274362|An insertion of nine nucleotides, AACCCCCAC, between position 2319 and 2320 of the coding sequence of the EGFR gene.|NCI|N|
C3274363|An insertion of the amino acid sequence proline-histidine between the histidine at position 773 and the valine at position 774 of the epidermal growth factor receptor protein.|NCI|N|
C3274364|An insertion of six nucleotides, cytosine-cytosine-cytosine-cytosine-cytosine-adenine, between position 2318 and 2319 of the coding sequence of the EGFR gene.|NCI|N|
C3274365|An insertion of six nucleotides, cytosine-cytosine-cytosine-cytosine-adenine-cytosine, between position 2319 and 2320 of the coding sequence of the EGFR gene.|NCI|N|
C3274366|An insertion of the amino acid sequence histidine-valine between the valine at position 774 and the cysteine at position 775 of the epidermal growth factor receptor protein.|NCI|N|
C3274367|An insertion of cytosine-adenine-cytosine-guanine-thymine-guanine between position 2322 and 2323 of the coding sequence of the EGFR gene.|NCI|N|
C3274368|An insertion of six nucleotides, cytosine-cytosine-adenine-cytosine-guanine-thymine, between position 2321 and 2322 of the coding sequence of the EGFR gene.|NCI|N|
C3274369|A complex nucleotide substitution where the deletion of guanine at position 2322 is followed by the insertion of seven nucleotides, cytosine-cytosine-adenine-cytosine-guanine-thymine-guanine, into the coding sequence of the EGFR gene.|NCI|N|
C3274377|A benign dermal neoplasm comprising of round cells, resembling histiocytes. The tumor commonly occurs in young dogs and may regress spontaneously.|NCI|N|
C3274390|A benign epithelial neoplasm of the pituitary gland.|NCI|N|
C3274449|An ovarian neoplasm comprising Sertoli cells in which the malignancy status has not been established.|NCI|N|
C3274451|A benign neoplasm of the rodent Zymbal''s gland with sebaceous and/or squamous differentiation.|NCI|N|
C3274452|A malignant neoplasm of the rodent Zymbal''s gland with sebaceous and/or squamous differentiation.|NCI|N|
C3274453|Cataract that results from the aging process, an injury, or as a manifestation of a systemic disorder.|NCI|N|
C3274454|Chylothorax that results from malignancies (usually lymphoma), trauma to the thoracic duct, tuberculosis, or sarcoidosis.|NCI|N|
C3274455|Rickets that is caused by vitamin D deficiency, hypocalcemia, or renal failure.|NCI|N|
C3274463|A form of sickle cell thalassemia characterized by the absence of hemoglobin A. Patients usually have severe anemia identical to that seen in sickle cell disease.|NCI|N|
C3274465|A mild form of sickle cell thalassemia characterized by the presence of hemoglobin S and a small amount of hemoglobin A in the red blood cells. It is characterized by the presence of small red blood cells and mild anemia.|NCI|N|
C3274466|A microscopic finding indicating the presence in a sample of tissue that resembles endometrial tissue.|NCI|N|
C3274484|A malformation in any part of the large intestine that is present at birth.|NCI|N|
C3274485|An abnormality of the superior or inferior vena cava that is present at birth. Representative examples include persistent left superior vena cava, absence of infrarenal inferior vena cava, or absence of the entire inferior vena cava.|NCI|N|
C3274486|Herniation of spinal cord tissue and meninges through a defect in the sacral region of the vertebral column. The protrusion of the tissue is flush with the level of the skin surface.|NCI|N|
C3274487|Blockage of the opening between the ureter and the bladder resulting in the reduction or prevention of the urine flow from the ureter to the bladder.|NCI|N|
C3274488|An acyanotic congenital cardiovascular abnormality characterized by the transposition of the aorta and the pulmonary artery.|NCI|N|
C3274490|Episodes of cyanosis that result from breath holding spells in response to anger or frustration, during childhood. These episodes usually resolve in a few seconds.|NCI|N|
C3274494|The formation of tissue in the lumen of the ileum that results in partial obstruction.|NCI|N|
C3274498|Congenital abnormalities, mainly cardiovascular malformations, which develop in a fetus when the mother uses lithium medication during pregnancy.|NCI|N|
C3274500|A rare metabolic disorder characterized by the deficiency of mitochondrial NADH dehydrogenase component of complex I. Signs and symptoms include cardiomyopathy, encephalopathy, enlarged head, and progressive leukodystrophy.|NCI|N|
C3274502|A syndrome that is defined by signs and symptoms related to abrupt or gradual stoppage of opioids use. They include strong cravings, sweating, nausea, vomiting, irritation, anxiety, muscle pain, dilated pupils and insomnia.|NCI|N|
C3274509|An abnormal communication between the rectum, bladder, and vagina.|NCI|N|
C3274510|Retinopathy of prematurity located in zone 1 of the retina.|NCI|N|
C3274511|Retinopathy of prematurity located in zone 2 of the retina.|NCI|N|
C3274512|Retinopathy of prematurity located in zone 3 of the retina.|NCI|N|
C3274515|Bronchopulmonary dysplasia that results in severe respiratory complications. The infants with severe symptoms are usually premature, have low birth weight, and the oxygen and ventilation support requirements are increased.|NCI|N|
C3274516|A diverse group of congenital cardiovascular abnormalities that share one characteristic, the presence of a single functional cardiac ventricle.|NCI|N|
C3274518|A congenital deficiency of one of the surfactant proteins.|NCI|N|
C3274519|Deficiency of surfactant protein C. It leads to progressive lung fibrosis.|NCI|N|
C3274521|Deficiency of surfactant protein D. When present in normal amounts, this protein offers protection against pulmonary infection and inflammation.|NCI|N|
C3274522|Deficiency of surfactant protein A. When present in normal amounts, this protein protects the lungs against a variety of bacteria, viruses, and fungi.|NCI|N|
C3274531|A rare infantile hemangioma in the airway, usually in the subglottic area or trachea. It may or may not be associated with cutaneous lesions. It is a potentially life-threatening condition and the infant should be closely monitored for signs of airway disease.|NCI|N|
C3274538|A finding that indicates the presence of immature retinal vessels as a result of prematurity.|NCI|N|
C3274541|A finding that indicates the presence of immature retinal vessels in zone 1 of the retina.|NCI|N|
C3274542|A finding that indicates the presence of immature retinal vessels in zone 2 of the retina.|NCI|N|
C3274543|A finding that indicates the presence of immature retinal vessels in zone 3 of the retina.|NCI|N|
C3274545|Bowel perforation in utero that may result in meconium peritonitis.|NCI|N|
C3274558|A congenital vascular abnormality that affects the great vessels and/or aortic arch. Representative examples include double aortic arch, aortic coarctation, and absence of a pulmonary artery.|NCI|N|
C3274592|A rare, slow-growing, painless tumor of infancy and early childhood that usually affects the distal extremities. It is characterized by the presence of alternating bands of mature adipose tissue and spindle-cell fibrous tissue, without destruction of the adipose tissue architecture. It does not metastasize, however the rate of local recurrences is high.|NCI|N|
C3274639|A constellation of neurobehavioral features observed in a neonate following cessation or reduction of postnatal exposure to opioids.|NCI|N|
C3274649|A designation of a case that indicates that an individual''s medical condition is likely a case of a disease or other problem, but that it has not been fully confirmed.|NCI|N|
C3274677|The evolution of a low-grade neoplastic pathologic process to a high grade malignancy.|NCI|N|
C3274706|Cytopenia caused by autoantibodies against the red blood cells, neutrophils, and/or platelets.|NCI|N|
C3274709|Breast carcinoma that develops in the opposite breast of a patient with an already diagnosed primary breast carcinoma.|NCI|N|
C3274725|An unbalanced translocation between chromosomes 1 and 19. It is observed in oligodendrogliomas and results in the co-deletion of 1p and 19q.|NCI|N|
C3274775|Slightly less than normal amount of blood that is forced from the heart ventricle to produce cardiac output. Quantitatively, the ejection fraction is considered between 40% to 49%.|NCI|N|
C3274776|Moderately less than normal amount of blood that is forced from the heart ventricle to produce cardiac output. Quantitatively, the ejection fraction is considered between 30% to 39%.|NCI|N|
C3274777|Severely less than normal amount of blood that is forced from the heart ventricle to produce cardiac output. Quantitatively, the ejection fraction is considered less than 30%.|NCI|N|
C3274779|A pathologically high percentage of blood that is forced from the heart ventricle to produce cardiac output. This is often the result of ventricular dilation due to hypertrophic cardiomyopathy. Quantitatively, the ejection fraction is considered higher than 70%.|NCI|N|
C3274783|A cardiac arrest attributed to ventricular tachycardia or ventricular fibrillation.|NCI|N|
C3274786|Cardiac arrest that was a result of bradycardia.|NCI|N|
C3274789|An anatomic deformity of the heart, ventricles or great vessels.|NCI|N|
C3274792|An electrocardiographic finding of an atypical passage of electrical impulses through the cardiac ventricles. This includes fascicular blocks (hemiblocks), bundle branch blocks, non-specific conduction delays and ventricular pacing. (ACC)|NCI|N|
C3274794|Heart disease that is primarily due to a valvular defect or abnormality. Valve disease that is felt to be significant but does not fulfill the definition for primary valvular heat disease is considered contributory valvular heart disease.|NCI|N|
C3274796|The estimate of the future survival of a subject.|NCI|N|
C3274807|A pathologic and/or clinical finding indicating the spread of a lymphomatous process to an anatomic site other than lymph nodes.|NCI|N|
C3274874|A dissection that impairs flow. This includes Type C (a persisting contrast medium extravasation) in the presence of ischemia, Type D (a spiral filling defect with delayed but complete distal flow), Type E (persistent filling defect with delayed antegrade flow) and Type F (filling defect with impaired flow and total occlusion).|NCI|N|
C3274943|The status of an individual who in all likelihood is not living, but has not been officially declared dead.|NCI|N|
C3274944|The status of an individual is officially declared not living by an authority.|NCI|N|
C3275032|Events pertaining to observations about implantable cardiac leads.|NCI|N|
C3275042|The cardiac lead has been left in situ but is not in use. (ACC)|NCI|N|
C3275051|Sharp stabbing chest pain or reproduction of pain on palpation. Less common isolated presentations, primarily in older adults, include nausea and vomiting, diaphoresis, and unexplained fatigue. J Am Coll Cardiol, 2007; 50:1-157, doi:10.1016/j. jacc.2007.02.013 (Published online 6 August 2007). (ACC)|NCI|N|
C3275053|Cardiac arrest which occurs before a percutaneous coronary intervention can take place. (ACC)|NCI|N|
C3275058|A cardiac lead requires revision, at which time the generator to the device will be replaced. (ACC)|NCI|N|
C3275064|A cardiac lead has damaged local tissue enough to require treatment. (ACC)|NCI|N|
C3275065|Insulation failure manifests as low lead impedance either absolutely (below manufacturer''s product specifications) or by a significant decrease from previously stable chronic values. (ACC)|NCI|N|
C3275066|The coronary sinus / left ventricular lead was not implanted because the lead position resulted in undesirable stimulation of the diaphragm. (ACC)|NCI|N|
C3275069|A longstanding, complete blockage of a vessel. (ACC)|NCI|N|
C3275072|The right coronary artery supplies the posterior descending artery (PDA) and the circumflex supplies the posterolateral artery (PLA). Thus, there is approximately equal contribution to the inferior surface of the left ventricle from both the left circumflex and right coronary arteries. (ACC)|NCI|N|
C3275073|The posterior descending artery (PDA) and posterolateral artery (PLA) arises from the right coronary artery. (ACC)|NCI|N|
C3275075|The patient died while in a medical center such as a hospital, skilled nursing facility (SNF), intermediate care facility (ICF), or a freestanding hospice center. (ACC)|NCI|N|
C3275076|Access to the subject''s vasculature is troublesome or formidable. (ACC)|NCI|N|
C3275077|Placement of intracoronary devices across the coronary stenosis is troublesome or formidable. (ACC)|NCI|N|
C3275082|The cardiac lead has been removed from the body. (ACC)|NCI|N|
C3275090|Mechanical Circulatory Support was inserted during a non-Percutaneous Coronary Intervention (PCI) procedure. (ACC)|NCI|N|
C3275091|Mechanical Circulatory Support was inserted during the procedure. (ACC)|NCI|N|
C3275092|Mechanical Circulatory Support was inserted during the procedure after Percutaneous Coronary Intervention (PCI) started. (ACC)|NCI|N|
C3275097|The diameter across the left atrium measured at the end of systole. (ACC)|NCI|N|
C3275098|The posterior descending artery (PDA) and posterolateral artery (PLA) arises from the left circumflex artery. (ACC)|NCI|N|
C3275103|The diameter across the ventricle at the end of diastole, excluding the thickness of the walls. (ACC)|NCI|N|
C3275104|The diameter across the ventricle at the end of systole, excluding the thickness of the walls. (ACC)|NCI|N|
C3275107|Mechanical Circulatory Support was in place at the start of the procedure. (ACC)|NCI|N|
C3275108|The medical condition or the procedure affects the device implantation site. (ACC)|NCI|N|
C3275109|An intended medical or surgical procedure necessitates the relocation of a cardiac lead. (ACC)|NCI|N|
C3275111|Evidence of mild retrograde blood flow through the valve(s) of the heart. (ACC)|NCI|N|
C3275112|The cardiac valve orifice is abnormally narrow, to a mild degree. (ACC)|NCI|N|
C3275113|Evidence of moderate retrograde blood flow through the valve(s) of the heart. (ACC)|NCI|N|
C3275114|The cardiac valve orifice is abnormally narrow, to a moderate degree. (ACC)|NCI|N|
C3275115|No evidence of any retrograde blood flow through the valve(s) in the heart. (ACC)|NCI|N|
C3275116|The cardiac valve orifice is not abnormally narrow. (ACC)|NCI|N|
C3275117|There was less than 50% stenosis (reduction in cross-sectional area) in all coronary artery branches. (ACC)|NCI|N|
C3275118|No treatment for diabetes. (ACC)|NCI|N|
C3275121|There was greater than or equal to 50% stenosis (reduction in cross-sectional area) in one coronary artery. (ACC)|NCI|N|
C3275124|A non-neoplastic or neoplastic disorder that affects the intrahepatic or extrahepatic bile ducts or the gallbladder. Representative examples of non-neoplastic disorders include cholangitis and cholecystitis. Representative examples of neoplastic disorders include extrahepatic bile duct adenoma, intrahepatic and extrahepatic cholangiocarcinoma, and gallbladder carcinoma.|NCI|N|
C3275160|A non-neoplastic disorder that affects the intrahepatic or extrahepatic bile ducts. Representative examples include cholangitis and biliary atresia.|NCI|N|
C3275161|A morphologic finding indicating the presence of single or multiple foci of hepatocytes that exhibit dysplastic changes. These microscopic foci measure less than 1 mm in diameter and are usually detected in cirrhotic livers.|NCI|N|
C3275163|An adenoma that arises from the intrahepatic bile ducts and it is characterized by the presence of microcystic changes.|NCI|N|
C3275367|Reduced ability to walk in a straight line while placing the feet heel to toe.|HPO|N|
C3275406|Raymond-type X-linked syndromic intellectual developmental disorder (MRXSR) is characterized by mildly to severely impaired intellectual development with speech and language difficulties associated with variable additional features, including marfanoid habitus, epilepsy, facial dysmorphism, hypotonia, and behavioral problems (summary by Baker et al., 2015 and Schirwani et al., 2018).|OMIM|N|
C3275408|Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the SYP gene.|MONDO|N|
C3275417|An abnormal appearance of muscle fibers observed on muscle biopsy. Ragged red fibers can be visualized with Gomori trichrome staining as irregular and intensely red subsarcolemmal zones, whereas the normal myofibrils are green. The margins of affect fibers appear red and ragged. The ragged-red is due to the accumulation of abnormal mitochondria below the plasma membrane of the muscle fiber, leading to the appearance of a red rim and speckled sarcoplasm.|HPO|N|
C3275438|Autism, the prototypic pervasive developmental disorder (PDD), is usually apparent by 3 years of age. It is characterized by a triad of limited or absent verbal communication, a lack of reciprocal social interaction or responsiveness, and restricted, stereotypic, and ritualized patterns of interests and behavior (Bailey et al., 1996; Risch et al., 1999). 'Autism spectrum disorder,' sometimes referred to as ASD, is a broader phenotype encompassing the less severe disorders Asperger syndrome (see ASPG1; 608638) and pervasive developmental disorder, not otherwise specified (PDD-NOS). 'Broad autism phenotype' includes individuals with some symptoms of autism, but who do not meet the full criteria for autism or other disorders. Mental retardation coexists in approximately two-thirds of individuals with ASD, except for Asperger syndrome, in which mental retardation is conspicuously absent (Jones et al., 2008). Genetic studies in autism often include family members with these less stringent diagnoses (Schellenberg et al., 2006).
For a discussion of genetic heterogeneity of autism, see 209850.|OMIM|N|
C3275443|Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the DLG3 gene.|MONDO|N|
C3275445|XMEN is an X-linked recessive immunodeficiency characterized by CD4 (186940) lymphopenia, severe chronic viral infections, and defective T-lymphocyte activation (Li et al., 2011). Affected individuals have chronic Epstein-Barr virus (EBV) infection and are susceptible to the development of EBV-associated B-cell lymphoproliferative disorders. Magnesium supplementation may be therapeutic (summary by Li et al., 2014).|OMIM|N|
C3275446|Xp11 translocation renal cell carcinomas (RCCX1) are a group of neoplasms distinguished by chromosomal translocations with breakpoints involving the TFE3 gene within tumor cells. The result is a TFE3 transcription factor gene fusion with 1 of multiple reported genes including ASPRCR1 (606236) on chromosome 17q25 and PRCC (179755) on 1q21, and more rarely, NONO (300084) on Xq13, SFPQ (605199) on 1p34, CLTC (118955) on 17q23, and unknown genes on chromosomes 3 and 10. Xp11 translocations are often found in pediatric tumors and less commonly in adults. However, adult cases may outnumber pediatric cases since renal cell carcinoma is more common in the adult population. Prior chemotherapy is a known risk factor for Xp11 translocations. Histology shows both clear cells and papillary architecture, often with abundant psammoma bodies, although variable histologic features have been observed (review by Ross and Argani, 2010).
For a discussion of genetic heterogeneity of renal cell carcinoma, see RCC (144700).|OMIM|N|
C3275447|Ogden syndrome (OGDNS) is an X-linked neurodevelopmental disorder characterized by postnatal growth failure, severely delayed psychomotor development, variable dysmorphic features, and hypotonia. Many patients also have cardiac malformations or arrhythmias (summary by Popp et al., 2015).|OMIM|N|
C3275459|Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the UBQLN2 gene.|MONDO|N|
C3275460|Intellectual disability-alacrima-achalasia syndrome is a rare, genetic intellectual disability syndrome characterized by delayed motor and cognitive development, absence or severe delay in speech development, intellectual disability, and alacrima. Achalasia/dysphagia and mild autonomic dysfunction (i.e. anisocoria) have also been reported in some patients. The phenotype is similar to the one observed in autosomal recessive Triple A syndrome, but differs by the presence of intellectual disability in all affected individuals.|ORDO|N|
C3275464|The Nascimento type of X-linked syndromic intellectual developmental disorder (MRXSN) is characterized by dysmorphic features, including large head, synophrys, prominent supraorbital ridges, almond-shaped and deep-set eyes, large ears, wide mouth, myxedematous appearance, hirsutism, abnormal hair whorls, micropenis, and onychodystrophy. Female carriers have normal cognition, but may show subtle facial features (summary by Budny et al., 2010).|OMIM|N|
C3275471|A syndromic X-linked intellectual disability characterized by moderate intellectual disability, seizures, dysmorphic facial features and in some older patients slowly progressive unsteady gait and progressive weakness that has material basis in variation in the chromosomal region Xq21.33-q23.|MONDO|N|
C3275476|X-linked dominant chondrodysplasia Chassaing-Lacombe type is a rare genetic bone disorder characterized by chondrodysplasia, intrauterine growth retardation (IUGR), hydrocephaly and facial dysmorphism in the affected males.|ORDO|N|
C3275487|A rare genetic syndrome with cerebellar malformation as a major feature. Characteristics included cerebellar vermis hypo or aplasia, ventriculomegaly, agenesis of corpus callosum and abnormalities of the brainstem and cerebral cortex in association with ocular coloboma. Clinically, patients show hydrocephalus at birth, neonatal hypotonia with abnormal breathing pattern, and ocular abnormalities with impaired vision, severe psychomotor delay, and seizures.|SNOMEDCT_US|N|
C3275495|Kabuki syndrome (KS) is characterized by typical facial features (long palpebral fissures with eversion of the lateral third of the lower eyelid; arched and broad eyebrows; short columella with depressed nasal tip; large, prominent, or cupped ears), minor skeletal anomalies, persistence of fetal fingertip pads, mild-to-moderate intellectual disability, and postnatal growth deficiency. Other findings may include: congenital heart defects, genitourinary anomalies, cleft lip and/or palate, gastrointestinal anomalies including anal atresia, ptosis and strabismus, and widely spaced teeth and hypodontia. Functional differences can include: increased susceptibility to infections and autoimmune disorders, seizures, endocrinologic abnormalities (including isolated premature thelarche in females), feeding problems, and hearing loss.|GeneReviews|N|
C3275508|Multiple congenital anomalies-hypotonia-seizures syndrome-2 (MCAHS2) is an X-linked recessive neurodevelopmental disorder characterized by dysmorphic features, neonatal hypotonia, early-onset myoclonic seizures, and variable congenital anomalies involving the central nervous, cardiac, and urinary systems. Some affected individuals die in infancy (summary by Johnston et al., 2012). The phenotype shows clinical variability with regard to severity and extraneurologic features. However, most patients present in infancy with early-onset epileptic encephalopathy associated with developmental arrest and subsequent severe neurologic disability; these features are consistent with a form of developmental and epileptic encephalopathy (DEE) (summary by Belet et al., 2014, Kato et al., 2014). The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis.
For a discussion of genetic heterogeneity of MCAHS, see MCAHS1 (614080).
For a discussion of nomenclature and genetic heterogeneity of DEE, see 308350.
For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (610293).|OMIM|N|
C3275521|Chromosome Xq27.3-q28 duplication syndrome is an X-linked recessive neurodevelopmental disorder characterized by mild mental retardation, mild facial dysmorphism, short stature, and primary testicular failure manifest as high-pitched voice, sparse body hair, abdominal obesity, and small testes. Female carriers may have short stature and premature ovarian failure (summary by Rio et al., 2010).|OMIM|N|
C3275544|Congenital absence of the nails is a rare condition. Some pedigrees display complete congenital absence of the nails (see, e.g., NDNC4, 206800), whereas in other pedigrees there is only partial congenital anonychia, with the thumbs and great toes most severely affected and progressively less severe changes in the more lateral digits (summary by Charteris, 1918). This form of nail disorder is referred to here as nonsyndromic congenital nail disorder-6 (NDNC6).
For a list of other nonsyndromic congenital nail disorders and a discussion of genetic heterogeneity, see NDNC1 (161050).|OMIM|N|
C3275684|A genetic condition caused by mutation(s) in the MTATP6 gene, encoding ATP synthase subunit a. The disorder is part of a group of congenital defects of complex V (ATP synthase).|NCI|N|
C3275758|Atrophy of the capillary lamina of choroid.|HPO|N|
C3275799|Complete bilateral fractures of the pars interarticularis resulting in the anterior slippage of the fifth lumbar vertebral body (L5) onto the sacrum (level S1).|HPO|N|
C3275899|An increase in amplitude of waves returned in ultrasonography of the kidney, which is generally displayed as increased brightness of the signal.|HPO|N|
C3275929|A rare balance disorder with characteristic of auditory and/or vestibular symptoms. This condition is caused by an opening (dehiscence) in the bone that overlays the superior semicircular canal within the inner ear.|SNOMEDCT_US|N|
C3275954|The Mardini-Nyhan association comprises uni- or bilateral lung agenesis, complex cardiac defects, particularly total anomalous pulmonary venous return (TAPVR), and thumb abnormalities (summary by Hastings et al., 2009).|OMIM|N|
C3275959|An inherited susceptibility or predisposition to developing leukemia, acute myeloid.|MONDO|N|
C3275998|Familial thrombocytosis in which the cause of the disease is a mutation in the MPL gene.|MONDO|N|
C3276032|Underdevelopment of the areola, the circular area of pigmented skin surrounding the nipple.|HPO|N|
C3276036|Distance between the hairline (trichion) and the glabella (the most prominent point on the frontal bone above the root of the nose), in the midline, more than two SD above the mean. Alternatively, an apparently increased distance between the hairline and the glabella.|HPO|N|
C3276096|An extremely rare genetic congenital heart disease characterized by the presence of atrial septal defect, mostly of the ostium secundum type, associated with conduction anomalies like atrioventricular block, atrial fibrillation or right bundle branch block.|ORDO|N|
C3276161|Generalized arterial calcification of infancy (GACI) is characterized by infantile onset of widespread arterial calcification and/or narrowing of large and medium-sized vessels resulting in cardiovascular findings (which can include heart failure, respiratory distress, edema, cyanosis, hypertension, and/or cardiomegaly). Additional findings can include typical skin and retinal manifestations of pseudoxanthoma elasticum (PXE), periarticular calcifications, development of rickets after infancy, cervical spine fusion, and hearing loss. While mortality in infancy is high, survival into the third and fourth decades has occurred.|GeneReviews|N|
C3276228|Acrodysostosis-1 (ACRDYS1) is a form of skeletal dysplasia characterized by short stature, severe brachydactyly, facial dysostosis, and nasal hypoplasia. Affected individuals often have advanced bone age and obesity. Laboratory studies show resistance to multiple hormones, including parathyroid, thyrotropin, calcitonin, growth hormone-releasing hormone, and gonadotropin (summary by Linglart et al., 2011). However, not all patients show endocrine abnormalities (Lee et al., 2012).
Genetic Heterogeneity of Acrodysostosis
See also ACRDYS2 (614613), caused by mutation in the PDE4D gene (600129) on chromosome 5q12.|OMIM|N|
C3276276|A distinct group of inborn defects of complex V (ATP synthase) is represented by the enzyme deficiency due to nuclear genome mutations characterized by a selective inhibition of ATP synthase biogenesis. Biochemically, the patients show a generalized decrease in the content of ATP synthase complex which is less than 30% of normal. Most cases present with neonatal-onset hypotonia, lactic acidosis, hyperammonemia, hypertrophic cardiomyopathy, and 3-methylglutaconic aciduria. Many patients die within a few months or years (summary by Mayr et al., 2010).
Genetic Heterogeneity of Mitochondrial Complex V Deficiency
Other nuclear types of mitochondrial complex V deficiency include MC5DN2 (614052), caused by mutation in the TMEM70 gene (612418) on chromosome 8q21; MC5DN3 (614053), caused by mutation in the ATP5E gene (ATP5F1E; 606153) on chromosome 20q13; MC5DN4A (620358) and MC5DN4B (615228), both caused by mutation in the ATP5A1 gene (ATP5F1A; 164360) on chromosome 18q; MC5DN5 (618120), caused by mutation in the ATP5D gene (ATP5F1D; 603150) on chromosome 19p13; MC5DN6 (618683), caused by mutation in the USMG5 gene (ATP5MD; 615204) on chromosome 10q24; and MC5DN7 (620359), caused by mutation in the ATP5PO gene (600828) on chromosome 21q22.
Mutations in the mitochondrial-encoded MTATP6 (516060) and MTATP8 (516070) genes can also cause mitochondrial complex V deficiency (see, e.g., 500015).|OMIM|N|
C3276314|A disease involving the atrioventricular node.|MONDO|N|
C3276320|A small V-shaped indentation on the internal aspect of the femoral head. This feature is well illustrated in Figure 5 of PMID:11694546.|HPO|N|
C3276324|Presence of an angular or V -shaped indentation on the ulnar side of the fifth metacarpal bone (i.e., on the sides towards the fifth finger).|HPO|N|
C3276432|Multiple mitochondrial dysfunctions syndrome is a severe autosomal recessive disorder of systemic energy metabolism, resulting in weakness, respiratory failure, lack of neurologic development, lactic acidosis, and early death (summary by Seyda et al., 2001).
Genetic Heterogeneity of Multiple Mitochondrial Dysfunctions Syndrome
See also MMDS2 (614299), caused by mutation in the BOLA3 gene (613183) on chromosome 2p13; MMDS3 (615330), caused by mutation in the IBA57 gene (615316) on chromosome 1q42; MMDS4 (616370), caused by mutation in the ISCA2 gene (615317) on chromosome 14q24; MMDS5 (617613), caused by mutation in the ISCA1 gene (611006) on chromosome 9q21; MMDS6 (617954), caused by mutation in the PMPCB gene (603131) on chromosome 7q22; and MMDS7 (620423), caused by mutation in the GCSH gene (238330) on chromosome 16q23.|OMIM|N|
C3276539|FBLN5-related cutis laxa is characterized by cutis laxa, early childhood-onset pulmonary emphysema, peripheral pulmonary artery stenosis, and other evidence of a generalized connective disorder such as inguinal hernias and hollow viscus diverticula (e.g., intestine, bladder). Occasionally, supravalvar aortic stenosis is observed. Intrafamilial variability in age of onset is observed. Cardiorespiratory failure from complications of pulmonary emphysema (respiratory or cardiac insufficiency) is the most common cause of death.|GeneReviews|N|
C3276549|Syndromic optic atrophy, also known as DOA+ syndrome, is a neurologic disorder characterized most commonly by an insidious onset of visual loss and sensorineural hearing loss in childhood with variable presentation of other clinical manifestations including progressive external ophthalmoplegia (PEO), muscle cramps, hyperreflexia, and ataxia. There appears to be a wide range of intermediate phenotypes (Yu-Wai-Man et al., 2010).|OMIM|N|
C3276623|An abnormality of the development of the toenails.|HPO|N|
C3276706|Small fiber neuropathy is a condition characterized by severe pain attacks that typically begin in the feet or hands. As a person ages, the pain attacks can affect other regions. Some people initially experience a more generalized, whole-body pain. The attacks usually consist of pain described as stabbing or burning, or abnormal skin sensations such as tingling or itchiness. In some individuals, the pain is more severe during times of rest or at night. The signs and symptoms of small fiber neuropathy usually begin in adolescence to mid-adulthood.\n\nIndividuals with small fiber neuropathy cannot feel pain that is concentrated in a very small area, such as the prick of a pin. However, they have an increased sensitivity to pain in general (hyperalgesia) and experience pain from stimulation that typically does not cause pain (allodynia). People affected with this condition may also have a reduced ability to differentiate between hot and cold. However, in some individuals, the pain attacks are provoked by cold or warm triggers.\n\nSome affected individuals have urinary or bowel problems, episodes of rapid heartbeat (palpitations), dry eyes or mouth, or abnormal sweating. They can also experience a sharp drop in blood pressure upon standing (orthostatic hypotension), which can cause dizziness, blurred vision, or fainting.\n\nSmall fiber neuropathy is considered a form of peripheral neuropathy because it affects the peripheral nervous system, which connects the brain and spinal cord to muscles and to cells that detect sensations such as touch, smell, and pain.|MedlinePlus Genetics|N|
C3276742|Duplication of the fibula. This may occur as a part of diplopodia (accessory tarsal or metatarsal bone). Diplopodia with double fibula is an extremely rare condition.|HPO|N|
C3276744|Absence of the tibia.|HPO|N|
C3276815|An induration (hardening) of the skin|HPO|N|
C3276821|Decreased thickness of the glomerular basement membrane (GBM), measured from endothelial to visceral epithelial plasma membrane and mainly attributable to a decrease in thickness of the lamina densa, generally to an overall thickness more than 2 standard deviations less than that of the normal mean GBM thickness for health age- and sex matched individuals. May be focal or diffuse, although the term thin GBMs generally implies thinning of over 50% of GBMs.|HPO|N|
C3276997|Loss of previously achieved motor skills, as manifested by loss of developmental motor milestones.|HPO|N|
C3277019|An eyebrow that extends straight across the brow, without curve.|HPO|N|
C3277059|Cataract in both eyes that are present at birth.|NCI|N|
C3277076|Autosomal dominant Bernard-Soulier syndrome type A2 (BSSA2) is characterized by chronic macrothrombocytopenia with mild or no clinical symptoms, normal platelet function, and normal megakaryocyte count. When present, clinical findings include excessive ecchymoses, frequent epistaxis, gingival bleeding, prolonged menstrual periods, or prolonged bleeding after tooth extraction (Savoia et al., 2001).
Genetic Heterogeneity of Bernard-Soulier Syndrome
Homozygous or compound heterozygous mutations in the GP1BA gene cause classic autosomal recessive Bernard-Soulier syndrome (BSSA1; 231200).|OMIM|N|
C3277117|The presence of a tail-like skin appendage located adjacent to the sacrum.|HPO|N|
C3277119|An anomalous radiographic appearance of the developing pelvis, in which the greater ischiadic noth (incisura ischiadica major) is shallow and the pelvis takes on the appearance said to resemble a halberd (a weapon especially of the 15th and 16th centuries consisting typically of a battle-ax and pike mounted on a handle).|HPO|N|
C3277184|Decreased intensity of the patellar reflex (also known as the knee jerk reflex).|HPO|N|
C3277187|An abnormal predominance of type II muscle fibers (in general, this feature can only be observed on muscle biopsy).|HPO|N|
C3277194|An abnormal distribution of muscle fiber types in muscle tissue. Human skeletal muscle contains at least two fiber types recognizable by histochemical techniques. In transverse sections of normal skeletal muscle, type 1 and type 2 fibers are distributed in a random fashion. Grouping of fibers of the same type can be seen in certain peripheral neuropathies, thought to be due to reinnervation of denervated muscle fibers by sprouting axons. With grouping, motor units enlarge. The fibers of a motor unit, which are normally scattered, come to lie adjacent to one another. Histochemical examination shows groups of muscle fibers of the same histochemical type.|HPO|N|
C3277226|A functional defect characterized by reduced total lung capacity (TLC) not associated with abnormalities of expiratory airflow or airway resistance. Spirometrically, a restrictive defect is defined as FEV1 (forced expiratory volume in 1 second) and FVC (forced vital capacity) less than 80 per cent. Restrictive lung disease may be caused by alterations in lung parenchyma or because of a disease of the pleura, chest wall, or neuromuscular apparatus.|HPO|N|
C3277286|Carbamazepine is an aromatic anticonvulsant used to treat epilepsy and other seizure disorders, as well as bipolar disorder and trigeminal neuralgia.  Carbamazepine can cause a variety of cutaneous adverse reactions, ranging from mild maculopapular eruptions to Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN).  The genetic variant HLA-B*15:02 is associated with the risk of SJS/TEN.  Patients who have at least one copy of the HLA-B*15:02 allele (considered HLA-B*15:02-positive) have a significantly increased risk for SJS/TEN compared to non-carriers, and it is recommended that they receive an alternate drug.   It is important to note that it is possible for a patient without HLA-B*15:02 to develop SJS/TEN.  Guidelines regarding the use of pharmacogenomic tests in dosing for carbamazepine have been published in Clinical Pharmacology and Therapeutics by the Clinical Pharmacogenetics Implementation Consortium (CPIC) and are available on the PharmGKB website.|PharmGKB|N|
C3277348|Eyelid partly covered by skin when eyes are open.|HPO|N|
C3277376|The presence of multiple deletions of mitochondrial DNA (mtDNA).|HPO|N|
C3277428|An unusually severe viral infection.|HPO|N|
C3277671|Thrombocythemia, or thrombocytosis, is a myeloproliferative disorder characterized by excessive platelet production resulting in increased numbers of circulating platelets. Thrombocythemia can be associated with thrombotic or hemorrhagic episodes and occasional leukemic transformation (summary by Wiestner et al., 1998).
Genetic Heterogeneity of Thrombocythemia
THCYT2 (601977) is caused by germline or somatic mutation in the THPO receptor gene (MPL; 159530) on chromosome 1p34, and THCYT3 (614521) is caused by germline or somatic mutation in the JAK2 gene (147796) on chromosome 9p.
Somatic mutations in the TET2 (612839), ASXL1 (612990), SH2B3 (605093), and SF3B1 (605590) genes have also been found in cases of essential thrombocythemia. Somatic mutation in the CALR gene (109091) occurs in approximately 70% of essential thrombocythemia patients who lack JAK2 and MPL mutations (Klampfl et al., 2013; Nangalia et al., 2013).|OMIM|N|
C3277750|Absence of the middle phalanx of the little (5th) finger.|HPO|N|
C3277753|Deeply placed nails.|HPO|N|
C3277940|Generalized excessive, abnormal hairiness.|HPO|N|
C3277945|Failure of formation of the lumen of the gallbladder, often associated with gallbladder hypoplasia.|HPO|N|
C3278024|An abnormally increased size of the cerebellum compared to other brain structures.|HPO|N|
C3278126|Decrease in CEREBRAL CORTICAL THICKNESS.|MSH|N|
C3278138|Fibrochondrogenesis is a severe, autosomal recessive, short-limbed skeletal dysplasia clinically characterized by a flat midface with a small nose and anteverted nares, significant shortening of all limb segments but relatively normal hands and feet, and a small bell-shaped thorax with a protuberant abdomen. Radiographically, the long bones are short and have broad metaphyseal ends, giving them a dumb-bell shape. The vertebral bodies are flat and, on lateral view, have a distinctive pinched appearance, with a hypoplastic posterior end and a rounded anterior end. The ribs are typically short and wide and have metaphyseal cupping at both ends (summary by Tompson et al., 2010).
Genetic Heterogeneity of Fibrochondrogenesis
Fibrochondrogenesis-2 (FBCG2; 614524) is caused by mutation in the COL11A2 gene (120290) on chromosome 6p21.3.|OMIM|N|
C3278147|Geleophysic dysplasia, a progressive condition resembling a lysosomal storage disorder, is characterized by short stature, short hands and feet, progressive joint limitation and contractures, distinctive facial features, progressive cardiac valvular disease, and thickened skin. Intellect is normal. Major findings are likely to be present in the first year of life. Cardiac, respiratory, and lung involvement result in death before age five years in approximately 33% of individuals with ADAMTSL2-related geleophysic dysplasia.|GeneReviews|N|
C3278154|Any multiple acyl-CoA dehydrogenase deficiency in which the cause of the disease is a mutation in the ETFA gene.|MONDO|N|
C3278155|Any multiple acyl-CoA dehydrogenase deficiency in which the cause of the disease is a mutation in the ETFB gene.|MONDO|N|
C3278156|Any multiple acyl-CoA dehydrogenase deficiency in which the cause of the disease is a mutation in the ETFDH gene.|MONDO|N|
C3278211|Heterozygous protein S deficiency, like protein C deficiency (176860), is characterized by recurrent venous thrombosis. Bertina (1990) classified protein S deficiency into 3 clinical subtypes based on laboratory findings. Type I refers to deficiency of both free and total protein S as well as decreased protein S activity; type II shows normal plasma values, but decreased protein S activity; and type III shows decreased free protein S levels and activity, but normal total protein S levels. Approximately 40% of protein S circulates as a free active form, whereas the remaining 60% circulates as an inactive form bound to C4BPA (120830).
Zoller et al. (1995) observed coexistence of type I and type III PROS1-deficient phenotypes within a single family and determined that the subtypes are allelic. Under normal conditions, the concentration of protein S exceeds that of C4BPA by approximately 30 to 40%. Thus, free protein S is the molar surplus of protein S over C4BPA. Mild protein S deficiency will thus present with selective deficiency of free protein S, whereas more pronounced protein S deficiency will also decrease the complexed protein S and consequently the total protein S level. These findings explained why assays for free protein S have a higher predictive value for protein S deficiency.
See also autosomal recessive thrombophilia due to protein S deficiency (THPH6; 614514), which is a more severe disorder.|OMIM|N|
C3278252|An autosomal recessive disorder caused by mutation of the AK1 gene. It is associated with moderate to severe non-spherocytic hemolytic anemia and, in some cases, with intellectual disability and psychomotor impairment.|NCI|N|
C3278302|A rare immunologic pulmonary disorder caused by hypersensitivity to <i>Aspergillus fumigatus</i>, clinically manifesting with poorly controlled asthma and recurrent pulmonary infiltrates.|ORDO|N|
C3278322|Cerebellar dysplasia (abnormal growth or development) is defined by abnormal cerebellar foliation, white matter arborization, and gray-white matter junction. Cerebellar dysplasia is a neuroimaging finding that describes abnormalities of both the cerebellar cortex and white matter and is associated with variable neurodevelopmental outcome. Dysplasia may globally involve the cerebellum or affect only one cerebellar hemisphere. In addition, cerebellar dysplasia may be associated with cortical/subcortical cysts.|HPO|N|
C3278384|Hypoinsulinemic hypoglycemia and body hemihypertrophy is a rare, genetic, endocrine disease characterized by neonatal macrosomia, asymmetrical overgrowth (typically manifesting as left-sided hemihypertrophy) and recurrent, severe hypoinsulinemic (or hypoketotic hypo-fatty-acidemic) hypoglycemia in infancy, which results in episodes of reduced consciousness and seizures.|ORDO|N|
C3278404|CHST3-related skeletal dysplasia is characterized by short stature of prenatal onset, joint dislocations (knees, hips, radial heads), clubfeet, and limitation of range of motion that can involve all large joints. Kyphosis and occasionally scoliosis with slight shortening of the trunk develop in childhood. Minor heart valve dysplasia has been described in several persons. Intellect and vision are normal.|GeneReviews|N|
C3278433|An injury of the wrist with displacement of any of the eight carpal bones.|HPO|N|
C3278481|Microcephaly and chorioretinopathy is an autosomal recessive developmental disorder characterized by delayed psychomotor development and visual impairment, often accompanied by short stature (summary by Martin et al., 2014).
Genetic Heterogeneity of Microcephaly and Chorioretinopathy
See also MCCRP2 (616171), caused by mutation in the PLK4 gene (605031) on chromosome 4q27, and MCCRP3 (616335), caused by mutation in the TUBGCP4 gene (609610) on chromosome 15q15.
An autosomal dominant form of microcephaly with or without chorioretinopathy, lymphedema, or mental retardation is caused by heterozygous mutation in the KIF11 gene (148760) on chromosome 10q23.
See also Mirhosseini-Holmes-Walton syndrome (autosomal recessive pigmentary retinopathy and mental retardation; 268050), which has been mapped to chromosome 8q21.3-q22.1.|OMIM|N|
C3278509|A developmental defect leading to the union of two adjacent vertebrae.|HPO|N|
C3278626|Formation of crystals owing to an increased concentration of orotic acid in the urine.|HPO|N|
C3278652|A lipoma that is localized to the spine.|HPO|N|
C3278664|Acute infantile liver failure resulting from TRMU mutation is a transient disorder of hepatic function. In addition to elevated liver enzymes, jaundice, vomiting, coagulopathy, and hyperbilirubinemia, the presence of increased serum lactate is consistent with a defect in mitochondrial respiratory function. With supportive care, patients who survive the initial acute episode can recover and show normal development (Zeharia et al., 2009).
See also transient infantile mitochondrial myopathy (MMIT; 500009), which is a similar disorder.
A more severe, permanent disorder with some overlapping features is associated with mitochondrial DNA depletion (251880).
See ILFS1 (615438) for information on syndromic infantile liver failure.|OMIM|N|
C3278811|Absent thumb, i.e., the absence of both phalanges of a thumb and the associated soft tissues.|HPO|N|
C3278865|Gallstones composed primarily of bilirubin and calcium salts (calcium bilirubinate) with a low cholesterol concentration.|HPO|N|
C3278903|An autoimmune form of glomerulonephritis (disease).|MONDO|N|
C3278923|An increase in size of the ventricular system of the brain.|HPO|N|
C3279090|Underdevelopment of the vertebral artery on one side.|HPO|N|
C3279191|Abnormal tortuous (i.e., twisted) form of arteries.|HPO|N|
C3279217|An electrocardiographic finding of an abnormality of T wave duration or morphology or of early repolarization. (CDISC)|NCI|N|
C3279278|Streaming or smearing of the Z band, which is then no longer confined to a narrow zone which bisects the I band. The Z disk may extend across the I band or the entire sarcomere in a zigzag manner. Focal thickening, smudging, and blurring of the Z band takes place concurrently. Myofibrillar disorganization is a frequent but not invariable accompanying change.|HPO|N|
C3279322|Progressively worsening joint contractures.|HPO|N|
C3279336|An impairment of gluconeogenesis.|HPO|N|
C3279407|Underdevelopment of the abdominal musculature.|HPO|N|
C3279439|Repeated episodes of abortion (Expulsion of the product of fertilization before completing the term of gestation) without deliberate interference.|HPO|N|
C3279457|Trichoodontoonychial dysplasia is a rare ectodermal dysplasia syndrome characterized by severe generalized hypotrichosis, parietal alopecia, secondary anodontia resulting from enamel hypoplasia, onychodystrophy, bone deficiency in the frontoparietal region and skin manifestations (incl. nevus pigmentosus, papules, ephelides, palmoplantar keratosis, supernumerary nipples, abnormal dermatoglyphics). There have been no further descriptions in the literature since 1983.|ORDO|N|
C3279470|Hypotrichosis simplex refers to a group of hereditary isolated alopecias characterized by diffuse and progressive hair loss, usually beginning in early childhood (Pasternack et al., 2008). Localized autosomal recessive hypotrichosis (LAH) is characterized by fragile hairs that break easily, leaving short, sparse scalp hairs. The disorder affects the trunk and extremities as well as the scalp, and the eyebrows and eyelashes may also be involved, whereas beard, pubic, and axillary hairs are largely spared. In addition, patients can develop hyperkeratotic follicular papules, erythema, and pruritus in affected areas (summary by Schaffer et al., 2006).
Woolly hair (WH) refers to a group of hair shaft disorders that are characterized by fine and tightly curled hair. Compared to normal curly hair that is observed in some populations, WH grows slowly and stops growing after a few inches. Under light microscopy, WH shows some structural anomalies, including trichorrhexis nodosa and tapered ends (summary by Petukhova et al., 2009). Several families have been reported in which some affected individuals exhibit features of hypotrichosis and others have woolly scalp hair (Khan et al., 2011).
Woolly hair is also a feature of several syndromes, such as Naxos disease (601214) and cardiofaciocutaneous syndrome (115150) (Petukhova et al., 2009), or the palmoplantar keratoderma and cardiomyopathy syndrome (601214) (Carvajal-Huerta, 1998).
Genetic Heterogeneity of Hypotrichosis and Woolly Hair
For a discussion of genetic heterogeneity of nonsyndromic hypotrichosis, see HYPT1 (605389).
For a discussion of genetic heterogeneity of localized hypotrichosis, see LAH1 (HYPT6; 607903).
Another form of autosomal recessive woolly hair with or without hypotrichosis (ARWH2; 604379) is caused by mutation in the LIPH gene (607365) and is allelic to autosomal recessive localized hypotrichosis (LAH2). ARWH3 (616760) is caused by mutation in the KRT25 gene (616646) on chromosome 17q21.
An autosomal dominant form of woolly hair with hypotrichosis (HYPT13; 615896) is caused by mutation in the KRT71 gene (608245) on chromosome 12q13. Another autosomal dominant form of woolly hair (ADWH; 194300) with normal hair density is caused by mutation in the KRT74 gene (608248) on chromosome 12q13, and is allelic to an autosomal dominant form of hypotrichosis simplex of the scalp (HYPT3; 613981) as well as an ectodermal dysplasia of the hair/nail type (ECTD7; 614929).|OMIM|N|
C3279547|Hypergranulosis is an increased thickness of the stratum granulosum.|HPO|N|
C3279550|A type of oligozoospermia in which spermatozoa can be detected in an ejaculate only after centrifugation and inspection of the pellet.|HPO|N|
C3279564|Osteogenesis imperfecta (OI) comprises a group of connective tissue disorders characterized by bone fragility and low bone mass. The disorder is clinically and genetically heterogeneous. Osteogenesis imperfecta type VI is a severe autosomal recessive form of the disorder (Glorieux et al., 2002; Becker et al., 2011).|OMIM|N|
C3279571|An abnormal anatomical location of the posterior lobe of the hypophysis, also known as the neurohypophysis. The posterior pituitary is normally present in the dorsal portion of the sella turcica, but when ectopic is usually near the median eminence. This defect is likely to be due to abnormal migration during embryogenesis.|HPO|N|
C3279614|Susceptibility to platelet-type bleeding disorder-13 is due to a defective thromboxane A2 receptor on platelets. The susceptibility is inherited in an autosomal dominant pattern, but clinical features, including mild mucocutaneous bleeding, occur only in the presence of a 'second hit' affecting platelet function; this second hit may be either in the TBXA2R gene or in another gene affecting the coagulation cascade (summary by Mumford et al., 2010).|OMIM|N|
C3279660|Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the CLDN14 gene.|MONDO|N|
C3279662|An extremely rare fatal neurometabolic developmental disorder with clinical characteristics of muscular hypotonia, psychomotor retardation, failure to thrive, and microcephaly.|SNOMEDCT_US|N|
C3279664|Primary lymphedema with myelodysplasia, also known as Emberger syndrome, is a rare disorder characterized by childhood-onset lymphedema of the lower limbs, with lymphoscintigraphy suggestive of lymphatic vessel hypoplasia, and genital lymphatic abnormalities. Myelodysplasia is usually with monosomy 7. Multiple warts, deafness, and minor anomalies (mild hypotelorism, neck webbing, and slender fingers) may also be present (summary by Mansour et al., 2010).|OMIM|N|
C3279675|Polymicrogyria (an excessive number of small gyri or convolutions) that is maximal in perisylvian regions (the regions that surround the Sylvian fissures), which may be symmetric or asymmetric and may extend beyond perisylvian regions. The Sylvian fissures often extend posteriorly and superiorly.|HPO|N|
C3279690|Moyamoya disease is a cerebrovascular disorder caused by stenotic changes of terminal portions of the internal carotid arteries accompanied by surrounding fine arterial collateral vessels. These vascular networks resemble a 'puff of smoke' (Japanese: moyamoya) in angiographic imaging (summary by Roder et al., 2011).
For a general phenotypic description and a discussion of genetic heterogeneity of moyamoya disease, see MYMY1 (252350).|OMIM|N|
C3279693|Atrial fibrillation is the most common sustained cardiac rhythm disturbance, affecting more than 2 million Americans, with an overall prevalence of 0.89%. The prevalence increases rapidly with age, to 2.3% between the ages of 40 and 60 years, and to 5.9% over the age of 65. The most dreaded complication is thromboembolic stroke (Brugada et al., 1997).
For a discussion of genetic heterogeneity of familial atrial fibrillation, see ATFB1 (608583).|OMIM|N|
C3279695|Atrial fibrillation is the most common sustained cardiac rhythm disturbance, affecting more than 2 million Americans, with an overall prevalence of 0.89%. The prevalence increases rapidly with age, to 2.3% between the ages of 40 and 60 years, and to 5.9% over the age of 65. The most dreaded complication is thromboembolic stroke (Brugada et al., 1997).
For a discussion of genetic heterogeneity of familial atrial fibrillation, see ATFB1 (608583).|OMIM|N|
C3279699|Mitochondrial encephalo-cardio-myopathy due to <i>TMEM70</i> mutation is characterized by early neonatal onset of hypotonia, hypetrophic cardiomyopathy and apneic spells within hours after birth accompanied by lactic acidosis, hyperammonemia and 3-methylglutaconic aciduria.|ORDO|N|
C3279708|Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3 (MC5DN3) is an autosomal recessive disorder with variable manifestations. Affected individuals present soon after birth or in early infancy with hypotonia, respiratory distress, and poor sucking. They have global developmental delay with mildly impaired intellectual disability. Additional features may include dystonia, ataxia, peripheral neuropathy, and seizures. Congenital cataracts, hearing impairment, and mild left cardiac ventricular hypertrophy have been reported in 1 patient each. Laboratory studies show increased lactate; some patients have hyperammonemia, 3-methylglutaconic aciduria, and hyperCKemia (Mayr et al., 2010; Zech et al., 2022).
For a general phenotypic description of the nuclear type of mitochondrial complex V deficiency and a discussion of genetic heterogeneity of mitochondrial complex V deficiency, see 604273.|OMIM|N|
C3279722|Williams distal myopathy is an autosomal dominant slowly progressive muscular disorder characterized by distal muscle weakness and atrophy affecting the upper and lower limbs. Onset occurs around the third to fourth decades of life, and patients remain ambulatory even after long disease duration. Muscle biopsy shows nonspecific changes with no evidence of rods, necrosis, or inflammation (summary by Duff et al., 2011).
Mutation in the FLNC gene can also cause myofibrillar myopathy-5 (MFM5; 609524), which shows a different pattern of muscle involvement and different histologic changes.|OMIM|N|
C3279725|Reduced ability to flex the femur, that is, to pull the knee upward.|HPO|N|
C3279738|AP-4-associated hereditary spastic paraplegia (HSP), also known as AP-4 deficiency syndrome, is a group of neurodegenerative disorders characterized by a progressive, complex spastic paraplegia with onset typically in infancy or early childhood. Early-onset hypotonia evolves into progressive lower-extremity spasticity. The majority of children become nonambulatory and usually wheelchair bound. Over time spasticity progresses to involve the upper extremities, resulting in a spastic tetraplegia. Associated complications include dysphagia, contractures, foot deformities, dysregulation of bladder and bowel function, and a pseudobulbar affect. About 50% of affected individuals have seizures. Postnatal microcephaly (usually in the -2SD to -3SD range) is common. All have developmental delay. Speech development is significantly impaired and many affected individuals remain nonverbal. Intellectual disability in older children is usually moderate to severe.|GeneReviews|N|
C3279743|AP-4-associated hereditary spastic paraplegia (HSP), also known as AP-4 deficiency syndrome, is a group of neurodegenerative disorders characterized by a progressive, complex spastic paraplegia with onset typically in infancy or early childhood. Early-onset hypotonia evolves into progressive lower-extremity spasticity. The majority of children become nonambulatory and usually wheelchair bound. Over time spasticity progresses to involve the upper extremities, resulting in a spastic tetraplegia. Associated complications include dysphagia, contractures, foot deformities, dysregulation of bladder and bowel function, and a pseudobulbar affect. About 50% of affected individuals have seizures. Postnatal microcephaly (usually in the -2SD to -3SD range) is common. All have developmental delay. Speech development is significantly impaired and many affected individuals remain nonverbal. Intellectual disability in older children is usually moderate to severe.|GeneReviews|N|
C3279748|Immunodeficiency, centromeric instability, and facial dysmorphism (ICF) syndrome is a rare autosomal recessive disorder characterized by facial dysmorphism, immunoglobulin deficiency resulting in recurrent infections, and mental retardation. Laboratory studies of patient cells show hypomethylation of satellite regions of chromosomes 1, 9, and 16, as well as pericentromeric chromosomal instability in response to phytohemagglutinin stimulation (summary by de Greef et al., 2011).
For a discussion of genetic heterogeneity of immunodeficiency-centromeric instability-facial anomalies syndrome, see ICF1 (242860).|OMIM|N|
C3279754|Any psoriasis in which the cause of the disease is a mutation in the TRAF3IP2 gene.|MONDO|N|
C3279756|Hermansky-Pudlak syndrome (HPS) is characterized by oculocutaneous albinism, a bleeding diathesis, and, in some individuals, pulmonary fibrosis, granulomatous colitis, or immunodeficiency. Ocular findings include reduced iris pigment with iris transillumination, reduced retinal pigment, foveal hypoplasia with significant reduction in visual acuity (usually in the range of 20/50 to 20/400), nystagmus, and increased crossing of the optic nerve fibers. Hair color ranges from white to brown; skin color ranges from white to olive and is usually a shade lighter than that of other family members. The bleeding diathesis can result in variable bruising, epistaxis, gingival bleeding, postpartum hemorrhage, colonic bleeding, and prolonged bleeding with menses or after tooth extraction, circumcision, and other surgeries. Pulmonary fibrosis, a restrictive lung disease, typically causes symptoms in the early thirties and can progress to death within a decade. Granulomatous colitis is severe in about 15% of affected individuals. Neutropenia and/or immune defects occur primarily in individuals with pathogenic variants in AP3B1 and AP3D1.|GeneReviews|N|
C3279757|The GPAPP-type of chondrodysplasia with joint dislocations is an autosomal recessive disorder characterized by short stature, chondrodysplasia with brachydactyly, congenital joint dislocations, cleft palate, and facial dysmorphism (Vissers et al., 2011).|OMIM|N|
C3279774|Aspergillus species are ubiquitous in nature and cause a wide spectrum of diseases, including saprophytic colonization of existing cavities (aspergilloma), allergic asthma, hypersensitivity pneumonitis, allergic bronchopulmonary aspergillosis, and disseminated disease associated with high mortality rates in patients with hematologic malignancies and recipients of solid organs and stem cell transplantations. Immunocompetent and nonatopic individuals are relatively resistant to infection, and disease occurs in the setting of host damage. Association of persistent inflammation with intractable infection is common in nonneutropenic patients after hematopoietic stem cell transplantation, as well as in allergic fungal diseases. The pathophysiology underlying Aspergillus infection highlights the bipolar nature of the inflammatory process in infection, in which early inflammation prevents or limits infection, but an uncontrolled response may oppose disease eradication (summary by Cunha et al., 2010).
For information on familial occurrence of allergic bronchopulmonary aspergillosis, see 103920.|OMIM|N|
C3279775|Multiple congenital anomalies-hypotonia-seizures syndrome is an autosomal recessive disorder characterized by neonatal hypotonia, lack of psychomotor development, seizures, dysmorphic features, and variable congenital anomalies involving the cardiac, urinary, and gastrointestinal systems. Most affected individuals die before 3 years of age (summary by Maydan et al., 2011). The disorder is caused by a defect in glycosylphosphatidylinositol biosynthesis; see GPIBD1 (610293).
Genetic Heterogeneity of Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
MCAHS2 (300868) is caused by mutation in the PIGA gene (311770) on chromosome Xp22, MCAHS3 (615398) is caused by mutation in the PIGT gene (610272) on chromosome 20q13, and MCAHS4 (618548) is caused by mutation in the PIGQ gene (605754) on chromosome 16p13.
Knaus et al. (2018) provided a review of the main clinical features of the different types of MCAHS, noting that patients with mutations in the PIGN, PIGA, and PIGT genes have distinct patterns of facial anomalies that can be detected by computer-assisted comparison. Some individuals with MCAHS may have variable increases in alkaline phosphatase (AP) as well as variable decreases in GPI-linked proteins that can be detected by flow cytometry. However, there was no clear correlation between AP levels or GPI-linked protein abnormalities and degree of neurologic involvement, mutation class, or gene involved. Knaus et al. (2018) concluded that a distinction between MCAHS and HPMRS1 (239300), which is also caused by mutation in genes involved in GPI biosynthesis, may be artificial and even inaccurate, and that all these disorders should be considered and classified together under the more encompassing term of 'GPI biosynthesis defects' (GPIBD).|OMIM|N|
C3279786|Anhaptoglobinemia refers to absence of the serum glycoprotein haptoglobin, a hemoglobin-binding acute-phase protein (summary by Teye et al., 2004). Serum levels of haptoglobin vary among normal persons: levels are low in the neonatal period and in the elderly, differ by population, and can be influenced by environmental factors, such as infection. Secondary hypohaptoglobinemia can occur as a consequence of hemolysis, during which haptoglobin binds to free hemoglobin (summary by Delanghe et al., 1998).|OMIM|N|
C3279790|Any atrial heart septal defect in which the cause of the disease is a mutation in the MYH6 gene.|MONDO|N|
C3279791|Sick sinus syndrome may be encountered at any age but is primarily a disease of the elderly and is often secondary to other cardiac disorders when diagnosed in younger individuals. Symptoms are often intermittent and/or nonspecific and include dizziness, syncope, and heart failure. The only effective treatment for symptomatic and irreversible sinus node dysfunction is permanent cardiac pacing, and sick sinus syndrome remains the most common indication for permanent pacemaker implantation (summary by Holm et al., 2011).
For a general phenotypic description and a discussion of genetic heterogeneity of sick sinus syndrome, see SSS1 (608567).|OMIM|N|
C3279792|Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013).
There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, 218330).
For a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 (208500).|OMIM|N|
C3279800|Keppen-Lubinsky syndrome (KPLBS) is a rare disorder characterized by severely delayed psychomotor development, hypertonia, hyperreflexia, generalized lipodystrophy giving an aged appearance, and distinctive dysmorphic features, including microcephaly, prominent eyes, narrow nasal bridge, and open mouth (summary by Masotti et al., 2015).|OMIM|N|
C3279807|Cranioectodermal dysplasia (CED) is a ciliopathy with skeletal involvement (narrow thorax, shortened proximal limbs, syndactyly, polydactyly, brachydactyly), ectodermal features (widely spaced hypoplastic teeth, hypodontia, sparse hair, skin laxity, abnormal nails), joint laxity, growth deficiency, and characteristic facial features (frontal bossing, low-set simple ears, high forehead, telecanthus, epicanthal folds, full cheeks, everted lower lip). Most affected children develop nephronophthisis that often leads to end-stage kidney disease in infancy or childhood, a major cause of morbidity and mortality. Hepatic fibrosis and retinal dystrophy are also observed. Dolichocephaly, often secondary to sagittal craniosynostosis, is a primary manifestation that distinguishes CED from most other ciliopathies. Brain malformations and developmental delay may also occur.|GeneReviews|N|
C3279824|Deficiencies in immunoglobulin (Ig) isotypes (including: isolated IgG subclass deficiency, IgG sublcass deficiency with IgA deficiency and kappa chain deficiency) are primary immunodeficiencies that are often asymptomatic but can be characterized by recurrent, often pyogenic, sinopulmonary infections.|ORDO|N|
C3279840|Methylmalonate semialdehyde dehydrogenase deficiency is a rare autosomal recessive inborn error of metabolism with a highly variable phenotype. Some patients may be asymptomatic, whereas others show global developmental delay, nonspecific dysmorphic features, and delayed myelination on brain imaging. Laboratory studies typically show increased urinary 3-hydroxyisobutyric acid, although additional metabolic abnormalities may also be observed (summary by Marcadier et al., 2013).|OMIM|N|
C3279841|Patients with pyruvate dehydrogenase E1-beta deficiency (PDHBD) present with typical clinical, biochemical and neuroradiological features: encephalopathy, hypotonia, respiratory difficulties, seizures, and lactic acidosis. Agenesis of the corpus callosum is often present. Patients with a severe clinical course die in infancy (summary by Quintana et al., 2009).
For a general phenotypic description and a discussion of genetic heterogeneity of pyruvate dehydrogenase deficiency, see 312170.|OMIM|N|
C3279842|Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the DOCK8 gene.|MONDO|N|
C3279843|Mosaic variegated aneuploidy syndrome is an autosomal recessive disorder characterized by poor growth and variable phenotypic manifestations, such as facial dysmorphism and congenital heart defects, associated with mosaic aneuploidies resulting from defects in cell division (summary by Snape et al., 2011).
See also MVA1 (257300), caused by mutation in the BUB1B gene (602860) on chromosome 15q15.|OMIM|N|
C3279875|Occipital cortical malformations (OCCM) is an autosomal recessive condition in which affected individuals develop seizures, sometimes associated with transient visual changes. Brain MRI shows both pachygyria and polymicrogyria restricted to the lateral occipital lobes (summary by Barak et al., 2011).|OMIM|N|
C3279885|DNMT1-related disorder is a degenerative disorder of the central and peripheral nervous systems comprising a phenotypic spectrum that includes hereditary sensory and autonomic neuropathy type 1E (HSAN1E) and autosomal dominant cerebellar ataxia, deafness, and narcolepsy (ADCA-DN). DNMT1 disorder is often characterized by moderate-to-severe sensorineural hearing loss beginning in the teens or early 20s, sensory impairment, sudomotor dysfunction (loss of sweating), and dementia usually beginning in the mid-40s. In some affected individuals, narcolepsy/cataplexy syndrome and ataxia are predominant findings.|GeneReviews|N|
C3279899|Hydrolethalus syndrome is an autosomal recessive embryonic lethal disorder characterized by hydrocephaly or anencephaly, postaxial polydactyly of the upper limbs, and pre- or postaxial polydactyly of the lower limbs. Duplication of the hallux is a common finding. HLS2 is considered a ciliopathy (summary by Putoux et al., 2011).
Acrocallosal syndrome (ACLS; 200990) is an allelic disorder with a less severe phenotype.
For a discussion of genetic heterogeneity of hydrolethalus syndrome, see 236680.|OMIM|N|
C3279904|People with lactate dehydrogenase-B deficiency typically do not have any signs or symptoms of the condition. They do not have difficulty with physical activity or any specific physical features related to the condition. Affected individuals are usually discovered only when routine blood tests reveal reduced lactate dehydrogenase activity.\n\nThere are two types of this condition: lactate dehydrogenase-A deficiency (sometimes called glycogen storage disease XI) and lactate dehydrogenase-B deficiency.\n\nPeople with lactate dehydrogenase-A deficiency experience fatigue, muscle pain, and cramps during exercise (exercise intolerance). In some people with lactate dehydrogenase-A deficiency, high-intensity exercise or other strenuous activity leads to the breakdown of muscle tissue (rhabdomyolysis). The destruction of muscle tissue releases a protein called myoglobin, which is processed by the kidneys and released in the urine (myoglobinuria). Myoglobin causes the urine to be red or brown. This protein can also damage the kidneys, in some cases leading to life-threatening kidney failure. Some people with lactate dehydrogenase-A deficiency develop skin rashes. The severity of the signs and symptoms among individuals with lactate dehydrogenase-A deficiency varies greatly.\n\nLactate dehydrogenase deficiency is a condition that affects how the body breaks down sugar to use as energy in cells, primarily muscle cells.|MedlinePlus Genetics|N|
C3279905|Focal segmental glomerulosclerosis-6 is an autosomal recessive childhood-onset kidney disorder manifest clinically by the nephrotic syndrome, which is characterized by proteinuria, hematuria, hypoalbuminemia, and progressive renal failure. It is a disease of the glomerular podocyte (summary by Mele et al., 2011).
For a general phenotypic description and a discussion of genetic heterogeneity of focal segmental glomerulosclerosis and nephrotic syndrome, see FSGS1 (603278).|OMIM|N|
C3279941|Stickler syndrome is a connective tissue disorder that can include ocular findings of myopia, cataract, and retinal detachment; hearing loss that is both conductive and sensorineural; midfacial underdevelopment and cleft palate (either alone or as part of the Robin sequence); and mild spondyloepiphyseal dysplasia and/or precocious arthritis. Variable phenotypic expression of Stickler syndrome occurs both within and among families; interfamilial variability is in part explained by locus and allelic heterogeneity.|GeneReviews|N|
C3279947|Although nails appear normal at birth, dystrophic changes develop within the first decade of life, resulting in onycholysis of fingernails and anonychia of toenails (summary by Rafiq et al., 2004). This disorder is referred to here as nonsyndromic congenital nail disorder-9 (NDNC9).
For a list of other nonsyndromic congenital nail disorders and a discussion of genetic heterogeneity, see NDNC1 (161050).|OMIM|N|
C3279948|Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the DIABLO gene.|MONDO|N|
C3279964|Hyperbiliverdinemia can manifest as green jaundice, which is a green discoloration of the skin, urine, serum, and other bodily fluids, due to increased biliverdin resulting from inefficient conversion to bilirubin. Although rarely reported, affected individuals appear to have symptoms only in the context of obstructive cholestasis and/or liver failure. In some cases, green jaundice can resolve after resolution of obstructive cholestasis. Green jaundice has also been associated with malnutrition, medication, and congenital biliary atresia (summary by Huffman et al., 2009).|OMIM|N|
C3279980|A reduction in the concentration of thromboxane B2 in the blood circulation.|HPO|N|
C3279990|IMD31C is a disorder of immunologic dysregulation with highly variable manifestations resulting from autosomal dominant gain-of-function mutations in STAT1 (600555). Most patients present in infancy or early childhood with chronic mucocutaneous candidiasis (CMC). Other highly variable features include recurrent bacterial, viral, fungal, and mycoplasmal infections, disseminated dimorphic fungal infections, enteropathy with villous atrophy, and autoimmune disorders, such as hypothyroidism or diabetes mellitus. A subset of patients show apparently nonimmunologic features, including osteopenia, delayed puberty, and intracranial aneurysms. Laboratory studies show increased activation of gamma-interferon (IFNG; 147570)-mediated inflammation (summary by Uzel et al., 2013 and Sampaio et al., 2013).|OMIM|N|
C3279991|Delayed sleep phase syndrome is a circadian rhythm sleep disorder characterized by sleep-onset insomnia and difficulty in awakening at the desired time. Patients with DSPD have chronic difficulty in adjusting their sleep-onset and wake-up times to occupational, school, and social activities. Although psychosocial and environmental factors sometimes induce this kind of disorder, most patients with DSPD appear to have an abnormal circadian pacemaker and/or an abnormal entrainment system (summary by Hohjoh et al., 2003).|OMIM|N|
C3279992|Hereditary paraganglioma-pheochromocytoma (PGL/PCC) syndromes are characterized by paragangliomas (tumors that arise from neuroendocrine tissues distributed along the paravertebral axis from the base of the skull to the pelvis) and pheochromocytomas (paragangliomas that are confined to the adrenal medulla). Sympathetic paragangliomas cause catecholamine excess; parasympathetic paragangliomas are most often nonsecretory. Extra-adrenal parasympathetic paragangliomas are located predominantly in the skull base and neck (referred to as head and neck PGL [HNPGL]) and sometimes in the upper mediastinum; approximately 95% of such tumors are nonsecretory. In contrast, sympathetic extra-adrenal paragangliomas are generally confined to the lower mediastinum, abdomen, and pelvis, and are typically secretory. Pheochromocytomas, which arise from the adrenal medulla, typically lead to catecholamine excess. Symptoms of PGL/PCC result from either mass effects or catecholamine hypersecretion (e.g., sustained or paroxysmal elevations in blood pressure, headache, episodic profuse sweating, forceful palpitations, pallor, and apprehension or anxiety). The risk for developing metastatic disease is greater for extra-adrenal sympathetic paragangliomas than for pheochromocytomas.|GeneReviews|N|
C3279996|Myopia, or nearsightedness, is a refractive error of the eye. Light rays from a distant object are focused in front of the retina and those from a near object are focused in the retina; therefore distant objects are blurry and near objects are clear (summary by Kaiser et al., 2004).
For a discussion of genetic heterogeneity of susceptibility to myopia, see 160700.|OMIM|N|
C3279997|Myopia, or nearsightedness, is a refractive error of the eye. Light rays from a distant object are focused in front of the retina and those from a near object are focused in the retina; therefore distant objects are blurry and near objects are clear (summary by Kaiser et al., 2004).
For a discussion of genetic heterogeneity of susceptibility to myopia, see 160700.|OMIM|N|
C3280011|Brittle cornea syndrome (BCS) is characterized by blue sclerae, corneal rupture after minor trauma, keratoconus or keratoglobus, hyperelasticity of the skin, and hypermobility of the joints (Al-Hussain et al., 2004). It is classified as a form of Ehlers-Danlos syndrome (Malfait et al., 2017).
For a discussion of genetic heterogeneity of brittle cornea syndrome, see BCS1 (229200).|OMIM|N|
C3280020|Dislocation of the HIP JOINT from an abnormal FEMORAL HEAD to the ACETABULUM relationship. It is most often due to ligamentous laxity, abnormal positioning of the joint and various other developmental, congenital factors, and method of delivery (e.g., OLIGOHYDRAMNIOS). When dislocation is diagnosed in neonates it is referred to as CONGENITAL HIP DYSPLASIA.|MSH|N|
C3280026|Hermansky-Pudlak syndrome (HPS) is characterized by oculocutaneous albinism, a bleeding diathesis, and, in some individuals, pulmonary fibrosis, granulomatous colitis, or immunodeficiency. Ocular findings include reduced iris pigment with iris transillumination, reduced retinal pigment, foveal hypoplasia with significant reduction in visual acuity (usually in the range of 20/50 to 20/400), nystagmus, and increased crossing of the optic nerve fibers. Hair color ranges from white to brown; skin color ranges from white to olive and is usually a shade lighter than that of other family members. The bleeding diathesis can result in variable bruising, epistaxis, gingival bleeding, postpartum hemorrhage, colonic bleeding, and prolonged bleeding with menses or after tooth extraction, circumcision, and other surgeries. Pulmonary fibrosis, a restrictive lung disease, typically causes symptoms in the early thirties and can progress to death within a decade. Granulomatous colitis is severe in about 15% of affected individuals. Neutropenia and/or immune defects occur primarily in individuals with pathogenic variants in AP3B1 and AP3D1.|GeneReviews|N|
C3280030|This primary immunodeficiency, designated IMD21, DCML, or MONOMAC, is characterized by profoundly decreased or absent monocytes, B lymphocytes, natural killer (NK) lymphocytes, and circulating and tissue dendritic cells (DCs), with little or no effect on T-cell numbers. Clinical features of IMD21 are variable and include susceptibility to disseminated nontuberculous mycobacterial infections, papillomavirus infections, opportunistic fungal infections, and pulmonary alveolar proteinosis. Bone marrow hypocellularity and dysplasia of myeloid, erythroid, and megakaryocytic lineages are present in most patients, as are karyotypic abnormalities, including monosomy 7 and trisomy 8. In the absence of cytogenetic abnormalities or overt dysplasia, hypoplastic bone marrow may initially be diagnosed as aplastic anemia. Bone marrow transplantation is the only cure. Some patients may have an increased risk of miscarriage. Both autosomal dominant transmission and sporadic cases occur. Less common manifestations of GATA2 deficiency include lymphedema and sensorineural hearing loss, a phenotype usually termed 'Emberger syndrome' (614038) (summary by Bigley et al. (2011), Hsu et al. (2011), and Spinner et al. (2014)).|OMIM|N|
C3280031|Classic Joubert syndrome (JS) is characterized by three primary findings: A distinctive cerebellar and brain stem malformation called the molar tooth sign (MTS). Hypotonia. Developmental delays. Often these findings are accompanied by episodic tachypnea or apnea and/or atypical eye movements. In general, the breathing abnormalities improve with age, truncal ataxia develops over time, and acquisition of gross motor milestones is delayed. Cognitive abilities are variable, ranging from severe intellectual disability to normal. Additional findings can include retinal dystrophy, renal disease, ocular colobomas, occipital encephalocele, hepatic fibrosis, polydactyly, oral hamartomas, and endocrine abnormalities. Both intra- and interfamilial variation are seen.|GeneReviews|N|
C3280036|Meckel syndrome is a disorder with severe signs and symptoms that affect many parts of the body. The most common features are enlarged kidneys with numerous fluid-filled cysts; an occipital encephalocele, which is a sac-like protrusion of the brain through an opening at the back of the skull; and the presence of extra fingers and toes (polydactyly). Most affected individuals also have a buildup of scar tissue (fibrosis) in the liver.\n\nBecause of their serious health problems, most individuals with Meckel syndrome die before or shortly after birth. Most often, affected infants die of respiratory problems or kidney failure.\n\nOther signs and symptoms of Meckel syndrome vary widely among affected individuals. Numerous abnormalities of the brain and spinal cord (central nervous system) have been reported in people with Meckel syndrome, including a group of birth defects known as neural tube defects. These defects occur when a structure called the neural tube, a layer of cells that ultimately develops into the brain and spinal cord, fails to close completely during the first few weeks of embryonic development. Meckel syndrome can also cause problems with development of the eyes and other facial features, heart, bones, urinary system, and genitalia.|MedlinePlus Genetics|N|
C3280041|Retinitis pigmentosa-61 (RP61) is an autosomal recessive photoreceptor degenerative disorder initially characterized by impairment of night vision and midperipheral visual field loss. Bone spicule pigmentation in the retinal periphery is present, and loss of rod function is detected by electroretinography (ERG) (Khan et al., 2011).
For a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa (RP), see 268000.|OMIM|N|
C3280042|Any retinitis pigmentosa in which the cause of the disease is a mutation in the MAK gene.|MONDO|N|
C3280054|Geleophysic dysplasia, a progressive condition resembling a lysosomal storage disorder, is characterized by short stature, short hands and feet, progressive joint limitation and contractures, distinctive facial features, progressive cardiac valvular disease, and thickened skin. Intellect is normal. Major findings are likely to be present in the first year of life. Cardiac, respiratory, and lung involvement result in death before age five years in approximately 33% of individuals with ADAMTSL2-related geleophysic dysplasia.|GeneReviews|N|
C3280062|Leber congenital amaurosis, also known as LCA, is an eye disorder that is present from birth (congenital). This condition primarily affects the retina, which is the specialized tissue at the back of the eye that detects light and color. People with this disorder typically have severe visual impairment beginning at birth or shortly afterward. The visual impairment tends to be severe and may worsen over time.\n\nLeber congenital amaurosis is also associated with other vision problems, including an increased sensitivity to light (photophobia), involuntary movements of the eyes (nystagmus), and extreme farsightedness (hyperopia). The pupils, which usually expand and contract in response to the amount of light entering the eye, do not react normally to light. Instead, they expand and contract more slowly than normal, or they may not respond to light at all.\n\nA specific behavior called Franceschetti's oculo-digital sign is characteristic of Leber congenital amaurosis. This sign consists of affected individuals poking, pressing, and rubbing their eyes with a knuckle or finger. Poking their eyes often results in the sensation of flashes of light called phosphenes. Researchers suspect that this behavior may contribute to deep-set eyes in affected children.\n\nAt least 20 genetic types of Leber congenital amaurosis have been described. The types are distinguished by their genetic cause, patterns of vision loss, and related eye abnormalities.\n\nIn very rare cases, delayed development and intellectual disability have been reported in people with the features of Leber congenital amaurosis. Because of the visual loss, affected children may become isolated. Providing children with opportunities to play, hear, touch, understand and other early educational interventions may prevent developmental delays in children with Leber congenital amaurosis.|MedlinePlus Genetics|N|
C3280073|CRSDA is an autosomal recessive disorder characterized by craniosynostosis, maxillary hypoplasia, and dental anomalies, including malocclusion, delayed and ectopic tooth eruption, and/or supernumerary teeth. Some patients also display minor digit anomalies, such as syndactyly and/or clinodactyly (summary by Nieminen et al., 2011).|OMIM|N|
C3280094|Any primary pigmented nodular adrenocortical disease in which the cause of the disease is a mutation in the PDE8B gene.|MONDO|N|
C3280100|The nephrotic syndrome refers to a genetically heterogeneous group of disorders characterized by proteinuria, hypoalbuminemia, and edema, resulting in end-stage kidney disease if untreated. Inherited defects in podocyte structure and function have been observed in some children with the steroid-resistant subtype of nephrotic syndrome (summary by Ozaltin et al., 2011).
For a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome, see NPHS1 (256300).|OMIM|N|
C3280103|An anomaly of podocyte morphology characterized by the loss of the interdigitating foot process pattern (generally called foot process effacement; FPE). The term FPE designates the loss of the usual interdigitating pattern of foot processes of neighboring podocytes, leading to relatively broad expanses of podocyte processes covering the glomerular basement membrane (GBM). It is widely viewed as a pathological derangement that is associated with leakage of macromolecules such as albumin through the glomerular filtration barrier.|HPO|N|
C3280112|Congenital myasthenic syndrome is a disorder characterized by variable degrees of muscle fatigability caused by impaired transmission of electrical signals at the neuromuscular junction (NMJ) (summary by Arnold et al., 2015).
For a discussion of genetic heterogeneity of CMS, see CMS1A (601462).|OMIM|N|
C3280113|Nephrotic syndrome type 5 (NPHS5) is an autosomal recessive disorder characterized by very early onset of progressive renal failure manifest as proteinuria with consecutive edema starting in utero or within the first 3 months of life. A subset of patients may develop mild ocular anomalies, such as myopia, nystagmus, and strabismus (summary by Hasselbacher et al., 2006).
Mutation in the LAMB2 gene can also cause Pierson syndrome (609049), which is characterized by nephrotic syndrome, distinct ocular anomalies, namely microcoria, and neurodevelopmental delay.
For a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome, see NPHS1 (256300).|OMIM|N|
C3280114|Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the ITGA2 gene.|MONDO|N|
C3280120|Platelet-type bleeding disorder-11 is an autosomal recessive mild to moderate bleeding disorder caused by defective platelet activation and aggregation in response to collagen (summary by Dumont et al., 2009).|OMIM|N|
C3280127|Rafiq syndrome (RAFQS) is an autosomal recessive disorder characterized by variably impaired intellectual and motor development, a characteristic facial dysmorphism, truncal obesity, and hypotonia. The facial dysmorphism comprises prominent eyebrows with lateral thinning, downward-slanting palpebral fissures, bulbous tip of the nose, large ears, and a thin upper lip. Behavioral problems, including overeating, verbal and physical aggression, have been reported in some cases. Serum transferrin isoelectric focusing shows a type 2 pattern (summary by Balasubramanian et al., 2019).|OMIM|N|
C3280131|Increased length of the hairs of the eyebrows.|HPO|N|
C3280133|VPS35-related Parkinson disease (VPS35-PD) is defined as Parkinson disease caused by heterozygous VPS35 pathogenic variants. Currently, the only known VPS35 variant with confirmed pathogenicity is c.1858G>A (p.Asp620Asn). Except for a younger age of onset, VPS35-PD is clinically indistinguishable from Parkinson disease of unknown cause (so-called sporadic Parkinson disease). Variability among 50 individuals reported with molecularly confirmed VPS35-PD includes age of onset (mean: 51.0±8.7 years; range: 34-68 years), Parkinson subtype (tremor, akinetic rigid, mixed), first motor symptom, course of the disease (unilateral onset and slow disease progression are typical; dyskinesia and motor fluctuations may occur), and presence/absence of neuropsychiatric manifestations (including depression, schizophrenia, learning difficulties, mild cognitive impairment, and dementia).|GeneReviews|N|
C3280142|Increased length of the rete rdiges of the epidermis.|HPO|N|
C3280146|Three M syndrome is characterized by severe pre- and postnatal growth deficiency (final height 5-6 SD below the mean; i.e., 120-130 cm), characteristic facies, and normal intelligence. Additional features of three M syndrome include short broad neck, prominent trapezii, deformed sternum, short thorax, square shoulders, winged scapulae, hyperlordosis, short fifth fingers, prominent heels, and loose joints. Males with three M syndrome have hypogonadism and occasionally hypospadias.|GeneReviews|N|
C3280153|Hyperphosphatasia with impaired intellectual development syndrome-3 (HPMRS3) is an autosomal recessive disorder characterized by severe intellectual disability, hypotonia with poor motor development, poor speech, and increased serum alkaline phosphatase (summary by Hansen et al., 2013). However, the severity of the disorder can also vary to include more mild intellectual impairment (Krawitz et al., 2013). The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis.
For a discussion of genetic heterogeneity of HPMRS, see HPMRS1 (239300).
For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (610293).|OMIM|N|
C3280155|Meckel syndrome is a severe autosomal recessive ciliopathy classically defined by the triad of encephalocele, polydactyly, and renal and biliary ductal dysplasia (summary by Hopp et al., 2011).
For a general phenotypic description and a discussion of genetic heterogeneity of Meckel syndrome, see MKS1 (249000).|OMIM|N|
C3280160|Acute encephalopathy is a severe neurologic complication of an infection that usually occurs in children. It is characterized by a high-grade fever accompanied within 12 to 48 hours by febrile convulsions, often leading to coma, multiple-organ failure, brain edema, and high morbidity and mortality. The infections are usually viral, particularly influenza, although other viruses and even mycoplasma have been found to cause the disorder (summary by Chen et al., 2005; Shinohara et al., 2011).
For a discussion of genetic heterogeneity of susceptibility to acute infection-induced encephalopathy, see 610551.|OMIM|N|
C3280168|Hereditary sensory and autonomic neuropathy type II (HSAN2) is characterized by progressively reduced sensation to pain, temperature, and touch. Onset can be at birth and is often before puberty. The sensory deficit is predominantly distal with the lower limbs more severely affected than the upper limbs. Over time sensory function becomes severely reduced. Unnoticed injuries and neuropathic skin promote ulcerations and infections that result in spontaneous amputation of digits or the need for surgical amputation. Osteomyelitis is common. Painless fractures can complicate the disease. Autonomic disturbances are variable and can include hyperhidrosis, tonic pupils, and urinary incontinence in those with more advanced disease.|GeneReviews|N|
C3280182|Adams-Oliver syndrome (AOS) is characterized by aplasia cutis congenita (ACC) of the scalp and terminal transverse limb defects (TTLD). ACC lesions usually occur in the midline of the parietal or occipital regions, but can also occur on the abdomen or limbs. At birth, an ACC lesion may already have the appearance of a healed scar. ACC lesions less than 5 cm often involve only the skin and almost always heal over a period of months; larger lesions are more likely to involve the skull and possibly the dura, and are at greater risk for complications, which can include infection, hemorrhage, or thrombosis, and can result in death. The limb defects range from mild (unilateral or bilateral short distal phalanges) to severe (complete absence of all toes or fingers, feet or hands, or more, often resembling an amputation). The lower extremities are almost always more severely affected than the upper extremities. Additional major features frequently include cardiovascular malformations/dysfunction (23%), brain anomalies, and less frequently renal, liver, and eye anomalies.|GeneReviews|N|
C3280201|Primary biliary cirrhosis (PBC) is a chronic, progressive cholestatic liver disease that usually affects middle-aged women and eventually leads to liver failure (summary by Kaplan, 1996).
For a discussion of genetic heterogeneity of primary biliary cirrhosis (PBC), see PBC1 (109720).|OMIM|N|
C3280202|Primary biliary cirrhosis (PBC) is a chronic, progressive cholestatic liver disease that usually affects middle-aged women and eventually leads to liver failure (summary by Kaplan, 1996).
For a discussion of genetic heterogeneity of primary biliary cirrhosis (PBC), see PBC1 (109720).|OMIM|N|
C3280203|RAB18 deficiency is the molecular deficit underlying both Warburg micro syndrome (characterized by eye, nervous system, and endocrine abnormalities) and Martsolf syndrome (characterized by similar – but milder – findings). To date Warburg micro syndrome comprises >96% of reported individuals with genetically defined RAB18 deficiency. The hallmark ophthalmologic findings are bilateral congenital cataracts, usually accompanied by microphthalmia, microcornea (diameter <10), and small atonic pupils. Poor vision despite early cataract surgery likely results from progressive optic atrophy and cortical visual impairment. Individuals with Warburg micro syndrome have severe to profound intellectual disability (ID); those with Martsolf syndrome have mild to moderate ID. Some individuals with RAB18 deficiency also have epilepsy. In Warburg micro syndrome, a progressive ascending spastic paraplegia typically begins with spastic diplegia and contractures during the first year, followed by upper-limb involvement leading to spastic quadriplegia after about age five years, often eventually causing breathing difficulties. In Martsolf syndrome infantile hypotonia is followed primarily by slowly progressive lower-limb spasticity. Hypogonadism – when present – manifests in both syndromes, in males as micropenis and/or cryptorchidism and in females as hypoplastic labia minora, clitoral hypoplasia, and small introitus.|GeneReviews|N|
C3280204|Narcolepsy is a chronic sleep disorder that disrupts the normal sleep-wake cycle. Although this condition can appear at any age, it most often begins in adolescence.\n\nSome people with narcolepsy have all of the major features of the disorder, while others have only one or two. Most of the signs and symptoms persist throughout life, although episodes of cataplexy may become less frequent with age and treatment.\n\nNarcolepsy is characterized by excessive daytime sleepiness. Affected individuals feel tired during the day, and several times a day they may experience an overwhelming urge to sleep. "Sleep attacks" can occur at unusual times, such as during a meal or in the middle of a conversation. They last from a few seconds to a few minutes and often lead to a longer nap, after which affected individuals wake up feeling refreshed.\n\nAnother common feature of narcolepsy is cataplexy, which is a sudden loss of muscle tone in response to strong emotion (such as laughing, surprise, or anger). These episodes of muscle weakness can cause an affected person to slump over or fall, which occasionally leads to injury. Episodes of cataplexy usually last just a few seconds, and they may occur from several times a day to a few times a year. Most people diagnosed with narcolepsy also have cataplexy. However, some do not, which has led researchers to distinguish two major forms of the condition: narcolepsy with cataplexy and narcolepsy without cataplexy.\n\nNarcolepsy also affects nighttime sleep. Most affected individuals have trouble sleeping for more than a few hours at night. They often experience vivid hallucinations while falling asleep (hypnogogic hallucinations) or while waking up (hypnopompic hallucinations). Affected individuals often have realistic and distressing dreams, and they may act out their dreams by moving excessively or talking in their sleep. Many people with narcolepsy also experience sleep paralysis, which is an inability to move or speak for a short period while falling asleep or awakening. The combination of hallucinations, vivid dreams, and sleep paralysis is often frightening and unpleasant for affected individuals.|MedlinePlus Genetics|N|
C3280205|Retinal arterial macroaneurysm is an autosomal recessive condition characterized by the bilateral appearance of 'beading' along the major retinal arterial trunks, with the subsequent formation of macroaneurysms. Affected individuals also have supravalvular pulmonic stenosis, often requiring surgical correction (summary by Abu-Safieh et al., 2011).|OMIM|N|
C3280212|A cardiovascular malformation associated with narrowing at the level of the pulmonary sinotubular junction above the pulmonic valve.|HPO|N|
C3280214|RAB18 deficiency is the molecular deficit underlying both Warburg micro syndrome (characterized by eye, nervous system, and endocrine abnormalities) and Martsolf syndrome (characterized by similar – but milder – findings). To date Warburg micro syndrome comprises >96% of reported individuals with genetically defined RAB18 deficiency. The hallmark ophthalmologic findings are bilateral congenital cataracts, usually accompanied by microphthalmia, microcornea (diameter <10), and small atonic pupils. Poor vision despite early cataract surgery likely results from progressive optic atrophy and cortical visual impairment. Individuals with Warburg micro syndrome have severe to profound intellectual disability (ID); those with Martsolf syndrome have mild to moderate ID. Some individuals with RAB18 deficiency also have epilepsy. In Warburg micro syndrome, a progressive ascending spastic paraplegia typically begins with spastic diplegia and contractures during the first year, followed by upper-limb involvement leading to spastic quadriplegia after about age five years, often eventually causing breathing difficulties. In Martsolf syndrome infantile hypotonia is followed primarily by slowly progressive lower-limb spasticity. Hypogonadism – when present – manifests in both syndromes, in males as micropenis and/or cryptorchidism and in females as hypoplastic labia minora, clitoral hypoplasia, and small introitus.|GeneReviews|N|
C3280215|Any holoprosencephaly in which the cause of the disease is a mutation in the CDON gene.|MONDO|N|
C3280216|Familial juvenile hyperuricemia nephropathy-3 may be a distinct form of autosomal dominant tubulointerstitial kidney disease (ADTKD); however, because the mapping of the disorder in the families described by Piret et al. (2011) is tentative, it is possible that the families have a form of the disorder described in the ADTKD series (see ADTKD1, 162000).|OMIM|N|
C3280220|A rare genetic subtype of autosomal dominant Charcot-Marie-Tooth disease type 2 with characteristics of early childhood-onset of slowly progressive, predominantly distal, lower limb muscle weakness and atrophy, delayed motor development, variable sensory loss and pes cavus in the presence of normal or near-normal nerve conduction velocities. Additional variable features may include proximal muscle weakness, abnormal gait, arthrogryposis, scoliosis, cognitive impairment, and spasticity. Caused by heterozygous mutation in the DYNC1H1 gene on chromosome 14q32.|SNOMEDCT_US|N|
C3280231|The chromosome 8q21.11 deletion syndrome is characterized by impaired intellectual development and common facial dysmorphic features (summary by Palomares et al., 2011).|OMIM|N|
C3280240|Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome is a rare, genetic, neurologic disease characterized by congenital microcephaly, severe, early-onset epileptic encephalopathy (manifesting as intractable, myoclonic and/or tonic-clonic seizures), permanent, neonatal, insulin-dependent diabetes mellitus, and severe global developmental delay. Muscular hypotonia, skeletal abnormalities, feeding difficulties, and dysmorphic facial features (including narrow forehead, anteverted nares, small mouth with deep philtrum, tented upper lip vermilion) are frequently associated. Brain MRI reveals cerebral atrophy with cortical gyral simplification and aplasia/hypoplasia of the corpus callosum.|ORDO|N|
C3280252|A hypotrichosis that has material basis in an autosomal recessive mutation on chromosome 10q11.23-q22.3.|MONDO|N|
C3280253|A hypotrichosis that has material basis in an autosomal recessive mutation on chromosome 7p22.3-p21.3.|MONDO|N|
C3280265|MRT18 is an autosomal recessive disorder characterized by impaired intellectual development with or without epilepsy. Other features may include spasticity, congenital heart disease, brain abnormalities, and atypical electroencephalography (summary by Trehan et al., 2015).|OMIM|N|
C3280266|Narcolepsy also affects nighttime sleep. Most affected individuals have trouble sleeping for more than a few hours at night. They often experience vivid hallucinations while falling asleep (hypnogogic hallucinations) or while waking up (hypnopompic hallucinations). Affected individuals often have realistic and distressing dreams, and they may act out their dreams by moving excessively or talking in their sleep. Many people with narcolepsy also experience sleep paralysis, which is an inability to move or speak for a short period while falling asleep or awakening. The combination of hallucinations, vivid dreams, and sleep paralysis is often frightening and unpleasant for affected individuals.\n\nAnother common feature of narcolepsy is cataplexy, which is a sudden loss of muscle tone in response to strong emotion (such as laughing, surprise, or anger). These episodes of muscle weakness can cause an affected person to slump over or fall, which occasionally leads to injury. Episodes of cataplexy usually last just a few seconds, and they may occur from several times a day to a few times a year. Most people diagnosed with narcolepsy also have cataplexy. However, some do not, which has led researchers to distinguish two major forms of the condition: narcolepsy with cataplexy and narcolepsy without cataplexy.\n\nNarcolepsy is characterized by excessive daytime sleepiness. Affected individuals feel tired during the day, and several times a day they may experience an overwhelming urge to sleep. "Sleep attacks" can occur at unusual times, such as during a meal or in the middle of a conversation. They last from a few seconds to a few minutes and often lead to a longer nap, after which affected individuals wake up feeling refreshed.\n\nSome people with narcolepsy have all of the major features of the disorder, while others have only one or two. Most of the signs and symptoms persist throughout life, although episodes of cataplexy may become less frequent with age and treatment.\n\nNarcolepsy is a chronic sleep disorder that disrupts the normal sleep-wake cycle. Although this condition can appear at any age, it most often begins in adolescence.|MedlinePlus Genetics|N|
C3280271|Parkinson disease-18 is an autosomal dominant, adult-onset form of the disorder. It is phenotypically similar to idiopathic Parkinson disease (summary by Chartier-Harlin et al., 2011).
For a general phenotypic description and a discussion of genetic heterogeneity of Parkinson disease (PD), see 168600.|OMIM|N|
C3280275|Rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death. Several risk factors such as smoking, hypertension, and excessive alcohol intake are associated with subarachnoid hemorrhage (summary by Krischek and Inoue, 2006).
For a discussion of genetic heterogeneity of intracranial berry aneurysms, see ANIB1 (105800).|OMIM|N|
C3280282|GRIN1-related neurodevelopmental disorder (GRIN1-NDD) is characterized by mild-to-profound developmental delay / intellectual disability (DD/ID) in all affected individuals. Other common manifestations are epilepsy, muscular hypotonia, movement disorders, spasticity, feeding difficulties, and behavior problems. A subset of individuals show a malformation of cortical development consisting of extensive and diffuse bilateral polymicrogyria. To date, 72 individuals with GRIN1-NDD have been reported.|GeneReviews|N|
C3280284|Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the CACNG2 gene.|MONDO|N|
C3280285|Chromosome 20q11-q12 deletion syndrome is characterized by global developmental delay, poor overall growth, sometimes with severe feeding difficulties, facial dysmorphism, and distal skeletal anomalies. Some patients may have hearing impairment, retinopathy, or cardiac defects. It is a multisystemic disorder with variable features (summary by Loddo et al., 2018).|OMIM|N|
C3280296|The defining clinical characteristics of the microcephaly-capillary malformation (MIC-CAP) syndrome are typically present at birth: microcephaly and generalized cutaneous capillary malformations (a few to hundreds of oval/circular macules or patches varying in size from 1-2 mm to several cm), hypoplastic distal phalanges of the hands and/or feet, early-onset intractable epilepsy, and profound developmental delay. Seizures, which can be focal, tonic, and complex partial and can include infantile spasms, appear to stabilize after age two years. Myoclonus of the limbs and eyelids is common; other abnormal movements (dyskinetic, choreiform) may be seen. To date, the diagnosis has been confirmed in 18 individuals from 15 families.|GeneReviews|N|
C3280303|An abnormal hair whorl (that is, a patch of hair growing in the opposite direction of the rest of the hair).|HPO|N|
C3280314|Combined malonic and methylmalonic aciduria (CMAMMA) is a rare recessive inborn error of metabolism characterized by elevations of urine malonic acid (MA) and methylmalonic acid (MMA). MMA excretion is higher than MA in CMAMMA patients, unlike patients with malonyl-CoA decarboxylase deficiency (248360) in whom the biochemical abnormalities include elevated MA alone or combined elevations of MA and MMA with MA mainly being higher than MMA. The clinical significance of CMAMMA is controversial. Initially, CMAMMA patients were ascertained during investigation of children with symptoms suggestive of a metabolic disorder or adults with neurologic manifestations (Sloan et al., 2011). Levtova et al. (2019) described CMAMMA patients identified by neonatal screening who had a favorable clinical course.|OMIM|N|
C3280315|Reduced level of platelet-activating factor acetylhydrolase.|HPO|N|
C3280342|Stickler syndrome is a connective tissue disorder that can include ocular findings of myopia, cataract, and retinal detachment; hearing loss that is both conductive and sensorineural; midfacial underdevelopment and cleft palate (either alone or as part of the Robin sequence); and mild spondyloepiphyseal dysplasia and/or precocious arthritis. Variable phenotypic expression of Stickler syndrome occurs both within and among families; interfamilial variability is in part explained by locus and allelic heterogeneity.|GeneReviews|N|
C3280345|Any hereditary breast ovarian cancer syndrome in which the cause of the disease is a mutation in the RAD51D gene.|MONDO|N|
C3280349|A type of vitreoretinal degeneration with manifestations that are concentrated at the periphery of the retina.|HPO|N|
C3280352|A hydatidiform mole is an abnormal pregnancy characterized by hydropic placental villi, trophoblastic hyperplasia, and poor fetal development. Familial recurrent hydatidiform mole is an autosomal recessive condition in which women experience recurrent pregnancy losses, predominantly complete hydatidiform mole (CHM). However, unlike sporadic CHMs, which are androgenetic with 2 paternal chromosome complements, CHMs associated with familial recurrence are genetically biparental in origin with both a maternal and a paternal contribution to the genome. Other pregnancy losses in this condition include partial hydatidiform mole, stillbirths, ectopic pregnancies, early neonatal deaths, and miscarriages, some of which may be undiagnosed molar pregnancies. Normal pregnancies are extremely rare in families with this condition (summary by Fallahian et al., 2013).
For a discussion of genetic heterogeneity of recurrent hydatidiform mole, see HYDM1 (231090).|OMIM|N|
C3280358|Autosomal dominant Wolfram-like syndrome (WFSL) is characterized by the clinical triad of congenital progressive hearing impairment, diabetes mellitus, and optic atrophy. The hearing impairment, which is usually diagnosed in the first decade of life, is relatively constant and alters mainly low- and middle-frequency ranges (summary by Valero et al., 2008).
Wolfram syndrome (WFS1; 222300) is an autosomal recessive allelic disorder characterized by optic atrophy, diabetes mellitus, hearing loss, and diabetes insipidus, and is caused by homozygous or compound heterozygous mutation in the WFS1 gene.
An autosomal dominant syndrome involving optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy (125250), is caused by heterozygous mutation in the OPA1 gene (605290).|OMIM|N|
C3280371|Mitochondrial membrane protein-associated neurodegeneration (MPAN) is characterized initially by gait changes followed by progressive spastic paresis, progressive dystonia (which may be limited to the hands and feet or more generalized), neuropsychiatric abnormalities (emotional lability, depression, anxiety, impulsivity, compulsions, hallucinations, perseveration, inattention, and hyperactivity), and cognitive decline. Additional early findings can include dysphagia, dysarthria, optic atrophy, axonal neuropathy, parkinsonism, and bowel/bladder incontinence. Survival is usually well into adulthood. End-stage disease is characterized by severe dementia, spasticity, dystonia, and parkinsonism.|GeneReviews|N|
C3280378|Multiple mitochondrial dysfunctions syndrome-2 (MMDS2) with hyperglycinemia is a severe autosomal recessive disorder characterized by developmental regression in infancy. Affected children have an encephalopathic disease course with seizures, spasticity, loss of head control, and abnormal movement. Additional more variable features include optic atrophy, cardiomyopathy, and leukodystrophy. Laboratory studies show increased serum glycine and lactate. Most patients die in childhood. The disorder represents a form of 'variant' nonketotic hyperglycinemia and is distinct from classic nonketotic hyperglycinemia (NKH, or GCE; 605899), which is characterized by significantly increased CSF glycine. Several forms of 'variant' NKH, including MMDS2, appear to result from defects of mitochondrial lipoate biosynthesis (summary by Baker et al., 2014).
For a general description and a discussion of genetic heterogeneity of multiple mitochondrial dysfunctions syndrome, see MMDS1 (605711).|OMIM|N|
C3280392|EDICT syndrome is an autosomal dominant syndromal anterior segment dysgenesis characterized by endothelial dystrophy, iris hypoplasia, congenital cataract, and thinning of the corneal stroma (Iliff et al., 2012).
Syndromes with overlapping features have been reported, including cornea guttata with anterior polar cataracts (121390) and congenital corneal opacities, cornea guttata, and corectopia (608484).|OMIM|N|
C3280402|Sclerosteosis is a severe sclerosing bone dysplasia characterized by progressive skeletal overgrowth. Syndactyly is a variable manifestation. The disorder is rare and the majority of affected individuals have been reported in the Afrikaner population of South Africa (summary by Brunkow et al., 2001).
For a discussion of genetic heterogeneity of sclerosteosis, see SOST1 (269500).|OMIM|N|
C3280415|SCN8A-related epilepsy with encephalopathy is characterized by developmental delay, seizure onset in the first 18 months of life (mean 4 months), and intractable epilepsy characterized by multiple seizure types (generalized tonic-clonic seizures, infantile spasms, and absence and focal seizures). Epilepsy syndromes can include Lennox-Gastaut syndrome, West syndrome, and epileptic encephalopathies (e.g., Dravet syndrome). Hypotonia and movement disorders including dystonia, ataxia, and choreoathetosis are common. Psychomotor development varies from normal prior to seizure onset (with subsequent slowing or regression after seizure onset) to abnormal from birth. Intellectual disability, present in all, ranges from mild to severe (in ~50% of affected individuals). Autistic features are noted in some. Sudden unexpected death in epilepsy (SUDEP) of unknown cause has been reported in approximately 10% of published cases. To date SCN8A-related epilepsy with encephalopathy has been reported in the literature in about 50 individuals.|GeneReviews|N|
C3280428|AMACR deficiency is a rare autosomal recessive peroxisomal disorder characterized by adult onset of variable neurodegenerative symptoms affecting the central and peripheral nervous systems. Features may include seizures, visual failure, sensorimotor neuropathy, spasticity, migraine, and white matter hyperintensities on brain imaging. Serum pristanic acid and C27 bile acid intermediates are increased (summary by Smith et al., 2010).|OMIM|N|
C3280442|BRCA1- and BRCA2-associated hereditary breast and ovarian cancer (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (including fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. The risk of developing an associated cancer varies depending on whether HBOC is caused by a BRCA1 or BRCA2 pathogenic variant.|GeneReviews|N|
C3280443|CAV3-related distal myopathy is one form of distal myopathy, a group of disorders characterized by weakness and loss of function affecting the muscles farthest from the center of the body (distal muscles), such as those of the hands and feet. People with CAV3-related distal myopathy experience wasting (atrophy) and weakness of the small muscles in the hands and feet that generally become noticeable in adulthood. A bump or other sudden impact on the muscles, especially those in the forearms, may cause them to exhibit repetitive tensing (percussion-induced rapid contraction). The rapid contractions can continue for up to 30 seconds and may be painful. Overgrowth (hypertrophy) of the calf muscles can also occur in CAV3-related distal myopathy. The muscles closer to the center of the body (proximal muscles) such as the thighs and upper arms are normal in this condition.|MedlinePlus Genetics|N|
C3280452|Autosomal recessive spinocerebellar ataxia-12 is a neurologic disorder characterized by onset of generalized seizures in infancy, delayed psychomotor development with mental retardation, and cerebellar ataxia. Some patients may also show spasticity (summary by Mallaret et al., 2014).|OMIM|N|
C3280471|Any 46 XX gonadal dysgenesis in which the cause of the disease is a mutation in the PSMC3IP gene.|MONDO|N|
C3280479|Any Pitt-Hopkins-like syndrome in which the cause of the disease is a mutation in the NRXN1 gene.|MONDO|N|
C3280489|Feingold syndrome is an autosomal dominant disorder characterized by variable combinations of microcephaly, limb malformations, esophageal and duodenal atresias, and learning disability/mental retardation. Hand and foot abnormalities may include hypoplastic thumbs, clinodactyly of second and fifth fingers, syndactyly (characteristically between second and third and fourth and fifth toes), and shortened or absent middle phalanges. Cardiac and renal malformations, vertebral anomalies, and deafness have also been described in a minority of patients (summary by Teszas et al., 2006).
For a discussion of genetic heterogeneity of Feingold syndrome, see FGLDS1 (164280).|OMIM|N|
C3280492|BAP1 tumor predisposition syndrome (BAP1-TPDS) is associated with an increased risk for a specific skin lesion, BAP1-inactivated melanocytic tumors (BIMT; formerly called atypical Spitz tumors), and the following cancers, in descending order of frequency: uveal (eye) melanoma (UM), malignant mesothelioma (MMe), cutaneous melanoma (CM), renal cell carcinoma (RCC), and basal cell carcinoma (BCC). Hepatocellular carcinoma, cholangiocarcinoma, and meningioma may also be associated with BAP1-TPDS. Affected individuals can have more than one type of primary cancer. In general, the median age of onset of these tumors is younger than in the general population. UM tends to be a more aggressive class 2 tumor with higher risk for metastasis and reduced survival compared to UM occurring in the general population. Due to the limited number of families reported to date, the penetrance, natural history, and frequencies of BAP1-associated tumors are yet to be determined. Other suspected but unconfirmed tumors in BAP1-TPDS include (in alphabetic order): breast cancer, neuroendocrine carcinoma, non-small-cell lung adenocarcinoma, thyroid cancer, and urinary bladder cancer.|GeneReviews|N|
C3280501|Any neonatal inflammatory skin and bowel disease in which the cause of the disease is a mutation in the ADAM17 gene.|MONDO|N|
C3280504|Crypt hyperplasia denotes elongation of the length of the crypts of Lieberkuhn, a process that initially precedes villous atrophy. Elongation may be caused by expansion of the lamina propria as a result of the proliferation of stromal cells, an influx of inflammatory cells and tissue remodeling.|HPO|N|
C3280515|A process in which melanosomes (melanin granules) are deposited in the dermis. The dermal melanosomes are observed to be mainly in macrophages. This phenomenon of pigmentary incontinence usually follows an inflammatory process with the basic feature of basal cell damage, such as in lichen planus, lupus erythematosus, Riehl's melanosis, incontinentia pigmenti (Bloch-Sulzberger), and fixed drug eruption. Incontinence of pigment, or dropping off of epidermal melanin into the dermis, frequently produces a clinically recognizable and characteristic slate-gray pigmentation.|HPO|N|
C3280527|Congenital pancreatic lipase deficiency is a rare, monoenzymatic form of exocrine pancreatic failure. All reported patients have presented with similar symptoms and clinical findings, including oily/greasy stools from infancy or early childhood and the absence of discernible pancreatic disease. Failure to thrive has not been observed. Analyses of duodenal contents consistently show a marked decrease of pancreatic lipolytic activity (summary by Figarella et al., 1980).|OMIM|N|
C3280538|Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the LINS1 gene.|MONDO|N|
C3280556|Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome is a rare, syndromic genetic deafness characterized by a combination of muscle weakness, chronic neuropathic and myopathic features, hoarseness and sensorineural hearing loss. A wide range of disease onset and severity has been reported even within the same family.|ORDO|N|
C3280574|Pulmonary surfactant metabolism dysfunction-5 (SMDP5) is an autosomal recessive lung disorder manifest clinically and pathologically as pulmonary alveolar proteinosis (PAP). PAP is a rare lung disease characterized by the ineffective clearance of surfactant by alveolar macrophages. This results in the accumulation of surfactant-derived lipoproteinaceous material in the alveoli and terminal bronchioles, causing respiratory failure (summary by Greenhill and Kotton, 2009).
For a general phenotypic description and a discussion of genetic heterogeneity of pulmonary surfactant metabolism dysfunction, see SMDP1 (265120).|OMIM|N|
C3280582|Dengue virus is a flavivirus belonging to the family Flaviviridae. Its principal vector is Aedes aegypti, a highly urbanized, daytime-biting mosquito that breeds in stored water. There are 4 antigenetically variant serotypes of dengue virus, DEN-1 to DEN-4, and type-specific immunity against one serotype cannot block infection with another serotype. Disease manifestations following dengue infection range from subclinical infection to severe and fatal disease, with age, gender, genotype, immunologic status, and flavivirus infection history of the host all influencing disease severity. Primary infection is mainly associated with dengue fever (DF). Symptoms of DF typically appear 4 to 7 days after the mosquito bite and include high fever, headache, retroocular pain, conjunctival changes, and facial flushing. Although primary dengue infections are mostly recovered, a secondary infection with a different serotype of the virus leads to the complex condition of dengue hemorrhagic fever (DHF) with plasma leakage and thrombocytopenia or a more fatal condition, dengue shock syndrome (DSS). High fever, hemorrhagic phenomenon, hepatomegaly, and circulatory failure are mainly associated with DHF. Hemorrhages in DHF are seen in skin, subcutaneous tissues, heart, liver, and gastrointestinal tract. An estimated 50 to 100 million illnesses due to dengue infection occur annually, including 250,000 to 500,000 cases of DHF and 24,000 deaths. About 2.5 billion people are estimated to be at risk, particularly those living in tropical and subtropical areas of Asia and Latin America (reviews by Faheem et al. (2011), Whitehorn and Simmons (2011), and Guzman et al. (2010)).|OMIM|N|
C3280586|Mannose-binding lectin (MBL) deficiency, defined as MBL protein level of less than 100 ng/ml, is present in about 5% of people of European descent and in about 10% of sub-Saharan Africans. Most MBL-deficient adults appear healthy, but low levels of MBL are associated with increased risk of infection in toddlers, in cancer patients undergoing chemotherapy, and in organ-transplant patients receiving immunosuppressive drugs, particularly recipients of liver transplants (review by Degn et al., 2011). MBL is a soluble molecule that can activate the lectin pathway of the complement system; deficiency may thus lead to defects in the complement system (summary by Garcia-Laorden et al., 2008).
Genetic Heterogeneity of Lectin Complement Activation Pathway Defects
See also LCAPD2 (613791), caused by variation in the MASP2 gene (605102) on chromosome 1p36, and LCAPD3 (613860), caused by variation in the FCN3 gene (604973) on chromosome 1p36.|OMIM|N|
C3280587|Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the SIGMAR1 gene.|MONDO|N|
C3280598|Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013).
There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, 218330).
For a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 (208500).|OMIM|N|
C3280612|The nephronophthisis (NPH) phenotype is characterized by reduced renal concentrating ability, chronic tubulointerstitial nephritis, cystic renal disease, and progression to end-stage renal disease (ESRD) before age 30 years. Three age-based clinical subtypes are recognized: infantile, juvenile, and adolescent/adult. Infantile NPH can present in utero with oligohydramnios sequence (limb contractures, pulmonary hypoplasia, and facial dysmorphisms) or postnatally with renal manifestations that progress to ESRD before age 3 years. Juvenile NPH, the most prevalent subtype, typically presents with polydipsia and polyuria, growth retardation, chronic iron-resistant anemia, or other findings related to chronic kidney disease (CKD). Hypertension is typically absent due to salt wasting. ESRD develops at a median age of 13 years. Ultrasound findings are increased echogenicity, reduced corticomedullary differentiation, and renal cysts (in 50% of affected individuals). Histologic findings include tubulointerstitial fibrosis, thickened and disrupted tubular basement membrane, sporadic corticomedullary cysts, and normal or reduced kidney size. Adolescent/adult NPH is clinically similar to juvenile NPH, but ESRD develops at a median age of 19 years. Within a subtype, inter- and intrafamilial variability in rate of progression to ESRD is considerable. Approximately 80%-90% of individuals with the NPH phenotype have no extrarenal features (i.e., they have isolated NPH); ~10%-20% have extrarenal manifestations that constitute a recognizable syndrome (e.g., Joubert syndrome, Bardet-Biedl syndrome, Jeune syndrome and related skeletal disorders, Meckel-Gruber syndrome, Senior-Løken syndrome, Leber congenital amaurosis, COACH syndrome, and oculomotor apraxia, Cogan type).|GeneReviews|N|
C3280616|Cranioectodermal dysplasia (CED) is a ciliopathy with skeletal involvement (narrow thorax, shortened proximal limbs, syndactyly, polydactyly, brachydactyly), ectodermal features (widely spaced hypoplastic teeth, hypodontia, sparse hair, skin laxity, abnormal nails), joint laxity, growth deficiency, and characteristic facial features (frontal bossing, low-set simple ears, high forehead, telecanthus, epicanthal folds, full cheeks, everted lower lip). Most affected children develop nephronophthisis that often leads to end-stage kidney disease in infancy or childhood, a major cause of morbidity and mortality. Hepatic fibrosis and retinal dystrophy are also observed. Dolichocephaly, often secondary to sagittal craniosynostosis, is a primary manifestation that distinguishes CED from most other ciliopathies. Brain malformations and developmental delay may also occur.|GeneReviews|N|
C3280641|Concentration of the complement component C4b in the blood circulation below the lower limit of normal.|HPO|N|
C3280642|Concentration of the complement component C4a in the blood circulation below the lower limit of normal.|HPO|N|
C3280644|POLR3-related leukodystrophy, a hypomyelinating leukodystrophy with specific features on brain MRI, is characterized by varying combinations of four major clinical findings: Neurologic dysfunction, typically predominated by motor dysfunction (progressive cerebellar dysfunction, and to a lesser extent extrapyramidal [i.e., dystonia], pyramidal [i.e., spasticity] and cognitive dysfunctions). Abnormal dentition (delayed dentition, hypodontia, oligodontia, and abnormally placed or shaped teeth). Endocrine abnormalities such as short stature (in ~50% of individuals) with or without growth hormone deficiency, and more commonly, hypogonadotropic hypogonadism manifesting as delayed, arrested, or absent puberty. Ocular abnormality in the form of myopia, typically progressing over several years and becoming severe. POLR3-related leukodystrophy and 4H leukodystrophy are the two recognized terms for five previously described overlapping clinical phenotypes (initially described as distinct entities before their molecular basis was known). These include: Hypomyelination, hypodontia, hypogonadotropic hypogonadism (4H syndrome); Ataxia, delayed dentition, and hypomyelination (ADDH); Tremor-ataxia with central hypomyelination (TACH); Leukodystrophy with oligodontia (LO); Hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum (HCAHC). Age of onset is typically in early childhood but later-onset cases have also been reported. An infant with Wiedemann-Rautenstrauch syndrome (neonatal progeroid syndrome) was recently reported to have pathogenic variants in POLR3A on exome sequencing. Confirmation of this as a very severe form of POLR3-related leukodystrophy awaits replication in other individuals with a clinical diagnosis of Wiedemann-Rautenstrauch syndrome.|GeneReviews|N|
C3280645|Any bacteremia, susceptibility in which the cause of the disease is a mutation in the TIRAP gene.|MONDO|N|
C3280647|Any bacteremia, susceptibility in which the cause of the disease is a mutation in the CISH gene.|MONDO|N|
C3280660|Encephalopathy due to defective mitochondrial and peroxisomal fission-1 (EMPF1) is characterized by delayed psychomotor development and hypotonia that may lead to death in childhood. Many patients develop refractory seizures, consistent with an epileptic encephalopathy, and thereafter show neurologic decline. The age at onset, features, and severity are variable, and some patients may not have clinical evidence of mitochondrial or peroxisomal dysfunction (summary by Sheffer et al., 2016; Fahrner et al., 2016).
Genetic Heterogeneity of Encephalopathy Due to Defective Mitochondrial And Peroxisomal Fission
See also EMPF2 (617086), caused by mutation in the MFF gene (614785) on chromosome 2q36.|OMIM|N|
C3280670|Miscarriage, the commonest complication of pregnancy, is the spontaneous loss of a pregnancy before the fetus has reached viability. The term therefore includes all pregnancy losses from the time of conception until 24 weeks of gestation. Recurrent miscarriage, defined as 3 or more consecutive pregnancy losses, affects about 1% of couples; when defined as 2 or more losses, the scale of the problem increases to 5% of all couples trying to conceive (summary by Rai and Regan, 2006).
Pregnancy losses have traditionally been designated 'spontaneous abortions' if they occur before 20 weeks gestation and 'stillbirths' if they occur after 20 weeks. Subtypes of spontaneous abortions can be further distinguished on the basis of embryonic development and include anembryonic loss in the first 5 weeks after conception (so-called 'blighted ovum'), embryonic loss from 6 to 9 weeks' gestation, and fetal loss from 10 weeks' gestation through the remainder of the pregnancy. These distinctions are important because the causes of pregnancy loss vary over gestational ages, with anembryonic losses being more likely to be associated with chromosomal abnormalities, for example. Possible etiologies for RPRGL include uterine anatomic abnormalities, cytogenetic abnormalities in the parents or fetus, single gene disorders, thrombophilic conditions, and immunologic or endocrine factors as well as environmental or infectious agents (summary by Warren and Silver, 2008).
Genetic Heterogeneity of Recurrent Pregnancy Loss
Susceptibility to RPRGL2 (614390) is conferred by mutation in the coagulation factor II gene (176930) on chromosome 11p11; RPRGL3 (614391) by mutation in the ANXA5 gene (131230) on chromosome 4q27; and RPRGL4 (see 270960) by mutation in the SYCP3 gene (604759) on chromosome 12q23.
Genetic variation in the conceptus itself that results in decreased viability of the embryo or fetus is discussed in the respective gene and/or phenotype entry (see, e.g., MTHFR, 607093.0004; NLRP7, 609661; hydatidiform mole, 231090).|OMIM|N|
C3280672|Miscarriage, the commonest complication of pregnancy, is the spontaneous loss of a pregnancy before the fetus has reached viability. The term therefore includes all pregnancy losses from the time of conception until 24 weeks of gestation. Recurrent miscarriage, defined as 3 or more consecutive pregnancy losses, affects about 1% of couples; when defined as 2 or more losses, the scale of the problem increases to 5% of all couples trying to conceive (summary by Rai and Regan, 2006).
Pregnancy losses have traditionally been designated 'spontaneous abortions' if they occur before 20 weeks' gestation and 'stillbirths' if they occur after 20 weeks. Subtypes of spontaneous abortions can be further distinguished on the basis of embryonic development and include anembryonic loss in the first 5 weeks after conception (so-called 'blighted ovum'), embryonic loss from 6 to 9 weeks' gestation, and fetal loss from 10 weeks' gestation through the remainder of the pregnancy. These distinctions are important because the causes of pregnancy loss vary over gestational ages, with anembryonic losses being more likely to be associated with chromosomal abnormalities, for example. Possible etiologies for recurrent pregnancy loss include uterine anatomic abnormalities, cytogenetic abnormalities in the parents or fetus, single gene disorders, thrombophilic conditions, and immunologic or endocrine factors as well as environmental or infectious agents (summary by Warren and Silver, 2008).|OMIM|N|
C3280674|Miscarriage, the commonest complication of pregnancy, is the spontaneous loss of a pregnancy before the fetus has reached viability. The term therefore includes all pregnancy losses from the time of conception until 24 weeks of gestation. Recurrent miscarriage, defined as 3 or more consecutive pregnancy losses, affects about 1% of couples; when defined as 2 or more losses, the scale of the problem increases to 5% of all couples trying to conceive (summary by Rai and Regan, 2006).
Pregnancy losses have traditionally been designated 'spontaneous abortions' if they occur before 20 weeks' gestation and 'stillbirths' if they occur after 20 weeks. Subtypes of spontaneous abortions can be further distinguished on the basis of embryonic development and include anembryonic loss in the first 5 weeks after conception (so-called 'blighted ovum'), embryonic loss from 6 to 9 weeks' gestation, and fetal loss from 10 weeks' gestation through the remainder of the pregnancy. These distinctions are important because the causes of pregnancy loss vary over gestational ages, with anembryonic losses being more likely to be associated with chromosomal abnormalities, for example. Possible etiologies for recurrent pregnancy loss include uterine anatomic abnormalities, cytogenetic abnormalities in the parents or fetus, single gene disorders, thrombophilic conditions, and immunologic or endocrine factors as well as environmental or infectious agents (summary by Warren and Silver, 2008).|OMIM|N|
C3280677|Transplantation of hematopoietic stem cells is a successful therapy for some tumors derived from bone marrow precursors, such as certain leukemias and lymphomas, and it can be used to cure some primary immunodeficiencies and inherited hematopoietic stem-cell diseases. One of the major complications of allogeneic bone marrow transplantation is graft-versus-host disease (GVHD), in which mature donor T cells that contaminate the allogeneic bone marrow recognize the tissues of the recipient as foreign, causing a severe inflammatory disease characterized by rashes, diarrhea, and liver disease. GVHD is particularly virulent when there is a mismatch of a major major histocompatibility complex (MHC) class I or class II antigen. Most transplants are therefore undertaken only when the donor and recipient are HLA-matched sibs or, less frequently, when there is an HLA-matched unrelated donor. However, GVHD also occurs in the context of disparities between minor histocompatibility antigens, and immunosuppression must be used in every stem-cell transplant (summary by Janeway et al., 2005).
At the core of the immunogenetic basis for GVHD is the diversity of HLA, killer immunoglobulin-like receptors (KIRs; see 604936), and cytokine genes. HLA class I molecules function as ligands for natural killer cell inhibitory KIRs, indicating that GVHD results from a complex interplay between innate and adaptive immune responses. Cytokines may modulate the intensity of tissue injury and inflammation in GVHD, and therefore cytokine polymorphisms in either patient or donor or both may explain individual risks of GVHD (review by Petersdorf and Malkki, 2006).|OMIM|N|
C3280679|Congenital myopathy-10A (CMYP10A) is a severe autosomal recessive skeletal muscle disorder characterized by generalized hypotonia, respiratory insufficiency, and poor feeding apparent from birth. Decreased fetal movements may be observed. More variable features include high-arched palate, distal joint contractures, foot deformities, scoliosis, areflexia, and dysphagia. Many patients show eventration of the diaphragm. Affected individuals become ventilator-dependent in the first months or years of life and never achieve walking; many die in childhood (Logan et al., 2011).
Patients with more damaging mutations in the MEGF10 gene, including nonsense or frameshift null mutations, show the more severe phenotype (CMYP10A), whereas those with missense mutations affecting conserved cysteine residues in the EGF-like domain show the less severe phenotype with later onset of respiratory failure and minicores on muscle biopsy (CMYP10B) (Croci et al., 2022).
For a discussion of genetic heterogeneity of congenital myopathy, see CMYP1A (117000).|OMIM|N|
C3280692|The Zaki-Gleeson syndrome is an autosomal recessive neurodevelopmental disorder characterized by profound mental retardation, severe microcephaly, poor growth, cerebellar hypoplasia, and second-degree cardiac conduction defects (Zaki et al., 2011).|OMIM|N|
C3280708|A lack of coordination of arm movement manifested by undershoot or overshoot of the intended position of the arm.|HPO|N|
C3280721|Chilblain lupus is a rare cutaneous form of systemic lupus erythematosus (SLE; 152700) characterized by tender, bluish-red swellings and nodules on the hands, feet, ears, and nose, with histologic changes of lupus. The phenotype is induced by cold, such that patients frequently report a worsening of lesions in the winter months (summary by Ravenscroft et al., 2011).
For a general description and a discussion of genetic heterogeneity of chilblain lupus, see CHBL1 (610448).|OMIM|N|
C3280725|Swelling due to fluid acculuation of the papillary dermis.|HPO|N|
C3280729|Lethal occipital encephalocele-skeletal dysplasia syndrome is a rare, genetic, bone development disorder characterized by occipital and parietal bone hypoplasia leading to occipital encephalocele, calvarial mineralization defects, craniosynostosis, radiohumeral fusions, oligodactyly and other skeletal anomalies (arachnodactyly, terminal phalangeal aplasia of the thumbs, bilateral absence of the great toes, pronounced bilateral angulation of femora, shortened limbs, advanced osseous maturation). Fetal death in utero is associated.|ORDO|N|
C3280730|A temporal lobe epilepsy that has material basis in heterozygous mutation in the CPA6 gene on chromosome 8q13.|MONDO|N|
C3280734|Familial febrile seizures-11 is an autosomal recessive seizure disorder characterized by early childhood onset of simple or complex seizures associated with fever. These seizures usually remit later in childhood with no neurologic sequelae (summary by Salzmann et al., 2012).
For a general description and a discussion of genetic heterogeneity of familial febrile seizures, see FEB1 (121210).|OMIM|N|
C3280742|People with SLE have episodes in which the condition gets worse (exacerbations) and other times when it gets better (remissions). Overall, SLE gradually gets worse over time, and damage to the major organs of the body can be life-threatening.\n\nAbout a third of people with SLE develop kidney disease (nephritis). Heart problems may also occur in SLE, including inflammation of the sac-like membrane around the heart (pericarditis) and abnormalities of the heart valves, which control blood flow in the heart. Heart disease caused by fatty buildup in the blood vessels (atherosclerosis), which is very common in the general population, is even more common in people with SLE. The inflammation characteristic of SLE can also damage the nervous system, and may result in abnormal sensation and weakness in the limbs (peripheral neuropathy); seizures; stroke; and difficulty processing, learning, and remembering information (cognitive impairment). Anxiety and depression are also common in SLE.\n\nSLE may first appear as extreme tiredness (fatigue), a vague feeling of discomfort or illness (malaise), fever, loss of appetite, and weight loss. Most affected individuals also have joint pain, typically affecting the same joints on both sides of the body, and muscle pain and weakness. Skin problems are common in SLE. A characteristic feature is a flat red rash across the cheeks and bridge of the nose, called a "butterfly rash" because of its shape. The rash, which generally does not hurt or itch, often appears or becomes more pronounced when exposed to sunlight. Other skin problems that may occur in SLE include calcium deposits under the skin (calcinosis), damaged blood vessels (vasculitis) in the skin, and tiny red spots called petechiae. Petechiae are caused by a shortage of cells involved in clotting (platelets), which leads to bleeding under the skin. Affected individuals may also have hair loss (alopecia) and open sores (ulcerations) in the moist lining (mucosae) of the mouth, nose, or, less commonly, the genitals.\n\nSystemic lupus erythematosus (SLE) is a chronic disease that causes inflammation in connective tissues, such as cartilage and the lining of blood vessels, which provide strength and flexibility to structures throughout the body. The signs and symptoms of SLE vary among affected individuals, and can involve many organs and systems, including the skin, joints, kidneys, lungs, central nervous system, and blood-forming (hematopoietic) system. SLE is one of a large group of conditions called autoimmune disorders that occur when the immune system attacks the body's own tissues and organs.|MedlinePlus Genetics|N|
C3280743|Systemic lupus erythematosus (SLE) diagnosed in individuals under the age of eighteen. Children frequently have multi-organ involvement and acute disease onset. Symptoms include fever, arthritis, skin lesions, anemia, and fatigue.|NCI|N|
C3280758|A cataract that has material basis in variation in the region 12q24.2-q24.3.|MONDO|N|
C3280766|Classic Joubert syndrome (JS) is characterized by three primary findings: A distinctive cerebellar and brain stem malformation called the molar tooth sign (MTS). Hypotonia. Developmental delays. Often these findings are accompanied by episodic tachypnea or apnea and/or atypical eye movements. In general, the breathing abnormalities improve with age, truncal ataxia develops over time, and acquisition of gross motor milestones is delayed. Cognitive abilities are variable, ranging from severe intellectual disability to normal. Additional findings can include retinal dystrophy, renal disease, ocular colobomas, occipital encephalocele, hepatic fibrosis, polydactyly, oral hamartomas, and endocrine abnormalities. Both intra- and interfamilial variation are seen.|GeneReviews|N|
C3280768|An abnormality of the fossa cranii posterior (the posterior fossa), which is made up primarily of the occipital bone and which surrounds to the foramen magnum.|HPO|N|
C3280777|Ventricular septal defect (VSD) is the most common form of congenital cardiovascular anomaly, occurring in nearly 50% of all infants with a congenital heart defect and accounting for 14 to 16% of cardiac defects that require invasive treatment within the first year of life. Congenital VSDs may occur alone or in combination with other cardiac malformations. Large VSDs that go unrepaired may give rise to cardiac enlargement, congestive heart failure, pulmonary hypertension, Eisenmenger's syndrome, delayed fetal brain development, arrhythmias, and even sudden cardiac death (summary by Wang et al., 2011, 2011).
Other congenital cardiac defects caused by mutation in the GATA4 gene include atrial septal defect (ASD2; 607941), tetralogy of Fallot (see TOF, 187500), and endocardial cushion defects (AVSD4; 614430).
Genetic Heterogeneity of Ventricular Septal Defect
VSD2 (614431) is caused by mutation in the CITED2 gene (602937) on chromosome 6q24; VSD3 (614432) is caused by mutation in the NKX2-5 gene (600584) on chromosome 5q34.
Somatic mutations in the HAND1 gene (602406) have been identified in tissue samples from patients with VSD.|OMIM|N|
C3280781|The term 'atrioventricular septal defect' (AVSD) covers a spectrum of congenital heart malformations characterized by a common atrioventricular junction coexisting with deficient atrioventricular septation. In ostium primum atrial septal defect (ASD) there are separate atrioventricular valvar orifices despite a common junction, whereas in complete AVSD the valve itself is also shared (summary by Craig, 2006).
AVSD, also designated endocardial cushion defect or atrioventricular canal defect (AVCD), is known to occur in either a nonsyndromic (isolated) form or, more commonly, as part of a malformation syndrome. The 2 syndromes most frequently associated with AVSD are Down syndrome (190685), in which AVSD is the most frequent congenital heart defect, and Ivemark syndrome (208530) (summary by Carmi et al., 1992).
For a discussion of genetic heterogeneity of atrioventricular septal defects, see AVSD1 (606215).|OMIM|N|
C3280783|Ventricular septal defect (VSD) is the most common form of congenital cardiovascular anomaly, occurring in nearly 50% of all infants with a congenital heart defect and accounting for 14% to 16% of cardiac defects that require invasive treatment within the first year of life. Congenital VSDs may occur alone or in combination with other cardiac malformations. Large VSDs that go unrepaired may give rise to cardiac enlargement, congestive heart failure, pulmonary hypertension, Eisenmenger's syndrome, delayed fetal brain development, arrhythmias, and even sudden cardiac death (summary by Wang et al., 2011, 2011).
For a discussion of genetic heterogeneity of ventricular septal defect, see VSD1 (614429).|OMIM|N|
C3280785|Ventricular septal defect (VSD) is the most common form of congenital cardiovascular anomaly, occurring in nearly 50% of all infants with a congenital heart defect and accounting for 14 to 16% of cardiac defects that require invasive treatment within the first year of life. Congenital VSDs may occur alone or in combination with other cardiac malformations. Large VSDs that go unrepaired may give rise to cardiac enlargement, congestive heart failure, pulmonary hypertension, Eisenmenger's syndrome, delayed fetal brain development, arrhythmias, and even sudden cardiac death (summary by Wang et al., 2011, 2011).
Other congenital cardiac defects caused by mutation in the NKX2-5 gene include atrial septal defect with or without atrioventricular conduction defects (ASD7; 108900), tetralogy of Fallot (see TOF, 187500), conotruncal malformations (see 217095), and hypoplastic left heart syndrome (HLHS2; 614435).
For a discussion of genetic heterogeneity of ventricular septal defect, see VSD1 (614429).|OMIM|N|
C3280790|Any atrial heart septal defect in which the cause of the disease is a mutation in the CITED2 gene.|MONDO|N|
C3280794|FBLN5-related cutis laxa is characterized by cutis laxa, early childhood-onset pulmonary emphysema, peripheral pulmonary artery stenosis, and other evidence of a generalized connective disorder such as inguinal hernias and hollow viscus diverticula (e.g., intestine, bladder). Occasionally, supravalvar aortic stenosis is observed. Intrafamilial variability in age of onset is observed. Cardiorespiratory failure from complications of pulmonary emphysema (respiratory or cardiac insufficiency) is the most common cause of death.|GeneReviews|N|
C3280795|Hypoplastic left heart syndrome results from defective development of the aorta proximal to the entrance of the ductus arteriosus and hypoplasia of the left ventricle and mitral valve. As a result of the abnormal circulation, the ductus arteriosus and foramen ovale are patent and the right atrium, right ventricle, and pulmonary artery are enlarged (Brekke, 1953).
For a discussion of genetic heterogeneity of hypoplastic left heart syndrome, see HLHS1 (241550).|OMIM|N|
C3280797|A rare genetic axonal hereditary motor and sensory neuropathy disorder with characteristics of adulthood-onset of slowly progressive, occasionally asymmetrical, distal muscle weakness and atrophy (predominantly in the lower limbs), pan-modal sensory loss, muscle cramping in extremities and/or trunk, pes cavus and absent or reduced deep tendon reflexes. Gait anomalies and variable autonomic disturbances, such as erectile dysfunction and urinary urgency, may be associated. The disease can be caused by homozygous or heterozygous mutation in the LRSAM1 gene on chromosome 9q33.|SNOMEDCT_US|N|
C3280798|EFEMP2-related cutis laxa, or autosomal recessive cutis laxa type 1B (ARCL1B), is characterized by cutis laxa and systemic involvement, most commonly arterial tortuosity, aneurysms, and stenosis; retrognathia; joint laxity; and arachnodactyly. Severity ranges from perinatal lethality as a result of cardiopulmonary failure to manifestations limited to the vascular and craniofacial systems.|GeneReviews|N|
C3280799|De Barsy syndrome, also known as autosomal recessive cutis laxa type III (ARCL3), is a rare autosomal recessive disorder characterized by an aged appearance with distinctive facial features, sparse hair, ophthalmologic abnormalities, intrauterine growth retardation (IUGR), and cutis laxa (summary by Lin et al., 2011).
For a phenotypic description and a discussion of genetic heterogeneity of de Barsy syndrome, see 219150.
For a phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see 219200.|OMIM|N|
C3280800|PHOAR2-enteropathy syndrome (PHOAR2E) is characterized by primary hypertrophic osteoarthropathy (PHO) and/or chronic nonspecific ulcers (CNSU) of the small intestine. The cardinal features of PHO are digital clubbing, pachydermia, and periostosis; other manifestations include swelling and pain of the large joints, hyperhidrosis, seborrhea, and acne. CNSU often presents with chronic unexplained anemia and abdominal pain, and patients may exhibit edema due to hypoalbuminemia. Radiologic imaging or endoscopy shows multiple small ulcers, predominantly in the ileum, although the stomach, duodenum, and jejunum are often involved. PHO is more frequent and more severe in male patients, who often also report watery diarrhea, whereas CNSU is more often diagnosed in female patients, who may also show features of PHO such as digital clubbing or arthralgias and swelling of the joints. The same mutations in the SLCO2A1 gene have been reported in patients presenting with either diagnosis, and presumed sex-related modifiers of the manifestations of disease or other genotype/phenotype correlates have yet to be elucidated (Li et al., 2017; Umeno et al., 2018; Hong et al., 2022; Kimball et al., 2024).
For a discussion of genetic heterogeneity of PHO, see PHOAR1 (259100).|OMIM|N|
C3280817|Any hypothyroidism, congenital, nongoitrous in which the cause of the disease is a mutation in the THRA gene.|MONDO|N|
C3280856|ISQMR is a severe autosomal recessive disorder characterized by ichthyosis apparent from birth, profound psychomotor retardation with essentially no development, spastic quadriplegia, and seizures (summary by Aldahmesh et al., 2011).|OMIM|N|
C3280866|Thiamine metabolism dysfunction syndrome-5 (THMD5) is an autosomal recessive metabolic disorder due to an inborn error of thiamine metabolism. The phenotype is highly variable, but in general, affected individuals have onset in early childhood of acute encephalopathic episodes associated with increased serum and CSF lactate. These episodes result in progressive neurologic dysfunction manifest as gait disturbances, ataxia, dystonia, and spasticity, which in some cases may result in loss of ability to walk. Cognitive function is usually preserved, although mildly delayed development has been reported. These episodes are usually associated with infection and metabolic decompensation. Some patients may have recovery of some neurologic deficits (Mayr et al., 2011).
For a discussion of genetic heterogeneity of disorders due to thiamine metabolism dysfunction, see THMD1 (249270).|OMIM|N|
C3280887|Hyperglycinemia, lactic acidosis, and seizures (HGCLAS) is a severe autosomal recessive disorder characterized by onset of hypotonia and seizures associated with increased serum glycine and lactate in the first days of life. Affected individuals develop an encephalopathy or severely delayed psychomotor development, which may result in death in childhood. The disorder represents a form of 'variant' nonketotic hyperglycinemia and is distinct from classic nonketotic hyperglycinemia (NKH, or GCE; 605899), which is characterized by significantly increased CSF glycine. Several forms of 'variant' NKH, including HGCLAS, appear to result from defects of mitochondrial lipoate biosynthesis (summary by Baker et al., 2014).|OMIM|N|
C3280897|Classic Joubert syndrome (JS) is characterized by three primary findings: A distinctive cerebellar and brain stem malformation called the molar tooth sign (MTS). Hypotonia. Developmental delays. Often these findings are accompanied by episodic tachypnea or apnea and/or atypical eye movements. In general, the breathing abnormalities improve with age, truncal ataxia develops over time, and acquisition of gross motor milestones is delayed. Cognitive abilities are variable, ranging from severe intellectual disability to normal. Additional findings can include retinal dystrophy, renal disease, ocular colobomas, occipital encephalocele, hepatic fibrosis, polydactyly, oral hamartomas, and endocrine abnormalities. Both intra- and interfamilial variation are seen.|GeneReviews|N|
C3280906|Classic Joubert syndrome (JS) is characterized by three primary findings: A distinctive cerebellar and brain stem malformation called the molar tooth sign (MTS). Hypotonia. Developmental delays. Often these findings are accompanied by episodic tachypnea or apnea and/or atypical eye movements. In general, the breathing abnormalities improve with age, truncal ataxia develops over time, and acquisition of gross motor milestones is delayed. Cognitive abilities are variable, ranging from severe intellectual disability to normal. Additional findings can include retinal dystrophy, renal disease, ocular colobomas, occipital encephalocele, hepatic fibrosis, polydactyly, oral hamartomas, and endocrine abnormalities. Both intra- and interfamilial variation are seen.|GeneReviews|N|
C3280913|Any coronary artery disease in which the cause of the disease is a mutation in the MMP3 gene.|MONDO|N|
C3280914|Familial cold autoinflammatory syndrome-3 is an autosomal dominant immune disorder characterized by the development of cutaneous urticaria, erythema, and pruritus in response to cold exposure. Affected individuals have variable additional immunologic defects, including antibody deficiency, decreased numbers of B cells, defective B cells, increased susceptibility to infection, and increased risk of autoimmune disorders (summary by Ombrello et al., 2012).
For a discussion of genetic heterogeneity of FCAS, see FCAS1 (120100).|OMIM|N|
C3280939|The term 'atrioventricular septal defect' (AVSD) covers a spectrum of congenital heart malformations characterized by a common atrioventricular junction coexisting with deficient atrioventricular septation. In ostium primum atrial septal defect (ASD) there are separate atrioventricular valvar orifices despite a common junction, whereas in complete AVSD the valve itself is also shared (summary by Craig, 2006).
AVSD, also designated endocardial cushion defect or atrioventricular canal defect (AVCD), is known to occur in either a nonsyndromic (isolated) form or, more commonly, as part of a malformation syndrome. The 2 syndromes most frequently associated with AVSD are Down syndrome (190685), in which AVSD is the most frequent congenital heart defect, and Ivemark syndrome (208530) (summary by Carmi et al., 1992).
For a discussion of genetic heterogeneity of atrioventricular septal defects, see AVSD1 (606215).|OMIM|N|
C3280940|Anatomic features of unbalanced atrioventricular septal defect (AVSD) include varying amounts of ventricular hypoplasia, as well as malalignment of the atrioventricular junction. In complete AVSD, the common AV valve can be situated either equally over the right and left ventricles (balanced) or unequally over the ventricles (unbalanced).|HPO|N|
C3280943|Any atrial heart septal defect in which the cause of the disease is a mutation in the GATA6 gene.|MONDO|N|
C3280953|Transient infantile hypertriglyceridemia is an autosomal recessive disorder characterized by onset of moderate to severe transient hypertriglyceridemia in infancy that normalizes with age. The hypertriglyceridemia is associated with hepatomegaly, moderately elevated transaminases, persistent fatty liver, and the development of hepatic fibrosis. The long-term outcome of affected individuals is unclear (summary by Basel-Vanagaite et al., 2012).|OMIM|N|
C3280965|Huppke-Brendel syndrome (HBS) is characterized by bilateral congenital cataracts, sensorineural hearing loss, and severe developmental delay. To date, six individuals with HBS have been reported in the literature. All presented in infancy with axial hypotonia; motor delay was apparent in the first few months of life with lack of head control and paucity of limb movement. Seizures have been reported infrequently. In all individuals described to date serum copper and ceruloplasmin levels were very low or undetectable. Brain MRI examination showed hypomyelination, cerebellar hypoplasia mainly affecting the vermis, and wide subarachnoid spaces. None of the individuals reported to date were able to sit or walk independently. All affected individuals died between age ten months and six years.|GeneReviews|N|
C3280970|Brain small vessel disease-2 is an autosomal dominant disorder characterized by variable neurologic impairment resulting from disturbed vascular supply that leads to cerebral degeneration. The disorder is often associated with 'porencephaly' on brain imaging. Affected individuals typically have hemiplegia, seizures, and intellectual disability, although the severity is variable (summary by Yoneda et al., 2012).
For a discussion of genetic heterogeneity of brain small vessel disease, see BSVD1 (175780).|OMIM|N|
C3280974|Trigonocephaly occurs predominantly as a nonsyndromic craniosynostosis and has an estimated prevalence of between 1:15,000 and 1:68,000 live births (summary by Vissers et al., 2011).
For a discussion of genetic heterogeneity of isolated trigonocephaly, see TRIGNO1 (190440).
A syndromic form of trigonocephaly is associated with monosomy for an 8-Mb interval of chromosome 9p22.3 (see 158170).|OMIM|N|
C3280976|The role of thrombomodulin in thrombosis is controversial. Although there have been several reports of THBD mutations in patients with venous thrombosis, clear functional evidence for the pathogenicity of these mutations is lacking. In a review, Anastasiou et al. (2012) noted that thrombomodulin has a major role in capillary beds and that THBD variation may not be associated with large vessel thrombosis. It is likely that genetic or environmental risk factors in addition to THBD variation are involved in the pathogenesis of venous thrombosis. However, variation in the THBD gene may be associated with increased risk for arterial thrombosis and myocardial infarction. This association may be attributed to the fact that thrombomodulin can modulate inflammatory processes, complement activity, and fibrinolysis.|OMIM|N|
C3280977|Spastic ataxia-5 (SPAX5) is an autosomal recessive neurodegenerative disorder characterized by early-onset spasticity resulting in significantly impaired ambulation, cerebellar ataxia, oculomotor apraxia, dystonia, and myoclonic epilepsy (summary by Pierson et al., 2011).
For a discussion of genetic heterogeneity of spastic ataxia, see SPAX1 (108600).|OMIM|N|
C3281001|Wiskott-Aldrich syndrome-2 (WAS2) is an autosomal recessive immunologic disorder characterized by onset of recurrent infections in infancy. Other features include thrombocytopenia with normal platelet volume and eczema. Laboratory studies show decreased CD8+ T cells, variably increased Ig, particularly IgE, low B cells, aberrant function of T and NK cells, and impaired T-cell migration. The cellular abnormalities are thought to result from defective F-actin polymerization. Death in early childhood may occur; hematopoietic stem cell transplantation is curative (summary by Lanzi et al., 2012).
For a discussion of genetic heterogeneity of Wiskott-Aldrich syndrome, see WAS (301000).|OMIM|N|
C3281002|A retinitis pigmentosa that has material basis in variation in the chromosome region 6q23.|MONDO|N|
C3281027|Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the ABCB6 gene.|MONDO|N|
C3281029|Lethal neonatal rigidity and multifocal seizure syndrome (RMFSL) is a severe autosomal recessive epileptic encephalopathy characterized by onset of rigidity and intractable seizures at or soon after birth. Affected infants achieve no developmental milestones and die within the first months or years of life (summary by Saitsu et al., 2014).|OMIM|N|
C3281034|Seizures that start from several different areas of the brain (i.e., with multiple ictal onset locations).|HPO|N|
C3281044|MRT34 is an autosomal recessive neurologic disorder characterized by mildly to moderately impaired intellectual development and megalencephaly or enlarged head circumference. Brain imaging shows a mild variant of lissencephaly with anterior-predominant pachygyria with shallow and unusually wide sulci and mildly thickened cortex. Some patients may have seizures (summary by Di Donato et al., 2016).|OMIM|N|
C3281045|Cone-rod dystrophy (CORD) and retinitis pigmentosa (RP) are clinically and genetically overlapping heterogeneous retinal dystrophies. RP is characterized initially by rod photoreceptor dysfunction, giving rise to night blindness, which is followed by progressive rod and cone photoreceptor dystrophy, resulting in midperipheral vision loss, tunnel vision, and sometimes blindness. In contrast to RP, CORD is characterized by a primary loss of cone photoreceptors and subsequent or simultaneous loss of rod photoreceptors. The disease in most cases becomes apparent during primary-school years, and symptoms include photoaversion, decrease in visual acuity with or without nystagmus, color vision defects, and decreased sensitivity of the central visual field. Because rods are also involved, night blindness and peripheral vision loss can occur. The diagnosis of CORD is mainly based on electroretinogram (ERG) recordings, in which cone responses are more severely reduced than, or equally as reduced as rod responses (summary by Estrada-Cuzcano et al., 2012).|OMIM|N|
C3281055|Neurodevelopmental disorder with hypotonia, craniofacial abnormalities, and seizures (NEDHCS) is an autosomal recessive syndrome characterized primarily by hypotonia and poor feeding apparent in early infancy. Affected individuals have severe global developmental delay, early-onset intractable seizures, and recognizable craniofacial dysmorphism with skull abnormalities. The disorder is believed to be unique to the Amish population, where it exhibits a founder effect (summary by Ammous et al., 2021).|OMIM|N|
C3281059|Bigonial distance (lower facial width) more than 2 SD above the mean (objective); or an apparently increased width of the lower jaw (mandible) when viewed from the front (subjective).|HPO|N|
C3281066|Usher syndrome type III is characterized by postlingual, progressive hearing loss, variable vestibular dysfunction, and onset of retinitis pigmentosa symptoms, including nyctalopia, constriction of the visual fields, and loss of central visual acuity, usually by the second decade of life (Karjalainen et al., 1983; Pakarinen et al., 1995).
For a discussion of genetic heterogeneity of type III Usher syndrome, see USH3A (276902).|OMIM|N|
C3281084|Congenital disorder of glycosylation type Ir (CDG1R) is an autosomal recessive disorder characterized by developmental delay, failure to thrive, feeding difficulties, hypotonia, and strabismus. Transferrin analysis demonstrates underglycosylation (summary by Pi et al., 2022).
For a discussion of the classification of CDGs, see CDG1A (212065).|OMIM|N|
C3281089|The disorder of congenital mirror movements (CMM) is characterized by early-onset, obvious mirror movements (involuntary movements of one side of the body that mirror intentional movements on the opposite side) in individuals who typically have no other clinical signs or symptoms. Although mirror movements vary in severity, most affected individuals have strong and sustained mirror movements of a lesser amplitude than the corresponding voluntary movements. Mirror movements usually persist throughout life, without deterioration or improvement, and are not usually associated with subsequent onset of additional neurologic manifestations. However, a subset of affected individuals with a heterozygous pathogenic variant in DCC may have CMM with abnormalities of the corpus callosum and concomitant cognitive and/or neuropsychiatric issues.|GeneReviews|N|
C3281092|Autosomal recessive thrombophilia due to protein S deficiency is a very rare and severe hematologic disorder resulting in thrombosis and secondary hemorrhage usually beginning in early infancy. Some affected individuals develop neonatal purpura fulminans, multifocal thrombosis, or intracranial hemorrhage (Pung-amritt et al., 1999; Fischer et al., 2010), whereas others have recurrent thromboses later in childhood (Comp et al., 1984).
See also autosomal dominant thrombophilia due to protein S deficiency (THPH5; 612336), a less severe disorder caused by heterozygous mutation in the PROS1 gene.|OMIM|N|
C3281105|An inherited susceptibility or predisposition to developing intracerebral hemorrhage.|MONDO|N|
C3281125|Thrombocythemia-3 is an autosomal dominant hematologic disorder characterized by increased platelet production resulting in increased numbers of circulating platelets. Thrombocythemia can be associated with thrombotic episodes, such as cerebrovascular events or myocardial infarction (summary by Mead et al., 2012).
For a discussion of genetic heterogeneity of thrombocythemia, see THCYT1 (187950).|OMIM|N|
C3281128|Fibrochondrogenesis is a severe skeletal dysplasia characterized by a flat midface, short long bones, short ribs with broad metaphyses, and vertebral bodies that show distinctive hypoplastic posterior ends and rounded anterior ends, giving the vertebral bodies a pinched appearance on lateral radiographic views. The chest is small, causing perinatal respiratory problems which usually, but not always, result in lethality. Affected individuals who survive the neonatal period have high myopia, mild to moderate hearing loss, and severe skeletal dysplasia (summary by Tompson et al., 2012).
For a discussion of genetic heterogeneity of fibrochondrogenesis, see FBCG1 (228520).|OMIM|N|
C3281137|The 17q12 recurrent duplication is characterized by intellectual abilities ranging from normal to severe disability and other variable clinical manifestations. Speech delay is common, and most affected individuals have some degree of hypotonia and gross motor delay. Behavioral and psychiatric conditions reported in some affected individuals include autism spectrum disorder, schizophrenia, and behavioral abnormalities (aggression and self-injury). Seizures are present in 75%. Additional common findings include microcephaly, ocular abnormalities, and endocrine abnormalities. Short stature and renal and cardiac abnormalities are also reported in some individuals. Penetrance is incomplete and clinical findings are variable.|GeneReviews|N|
C3281138|The 17q12 recurrent deletion syndrome is characterized by variable combinations of the three following findings: structural or functional abnormalities of the kidney and urinary tract, maturity-onset diabetes of the young type 5 (MODY5), and neurodevelopmental or neuropsychiatric disorders (e.g., developmental delay, intellectual disability, autism spectrum disorder, schizophrenia, anxiety, and bipolar disorder). Using a method of data analysis that avoids ascertainment bias, the authors determined that multicystic kidneys and other structural and functional kidney anomalies occur in 85% to 90% of affected individuals, MODY5 in approximately 40%, and some degree of developmental delay or learning disability in approximately 50%. MODY5 is most often diagnosed before age 25 years (range: age 10-50 years).|GeneReviews|N|
C3281152|The interstitial 16q22 deletion syndrome is a multiple congenital anomaly disorder associated with failure to thrive in infancy, poor growth, delayed psychomotor development, hypotonia, and dysmorphic features, including large anterior fontanel, high forehead, diastasis of the cranial sutures, broad nasal bridge, hypertelorism, low-set abnormal ears, and short neck. The phenotypic features and deletion sizes are variable, but deletion of 16q22 appears to be critical for manifestations of the syndrome (summary by Fujiwara et al., 1992).|OMIM|N|
C3281153|Efavirenz is a non-nucleoside reverse transcriptase inhibitor widely used worldwide to treat HIV-1 infection. It is predominantly metabolized into inactive metabolites by cytochrome P450-2B6 (CYP2B6). Genetic variants in CYP2B6 (e.g. CYP2B6*6 and *18), along with other genetic and non-genetic factors, are known to influence variability in efavirenz response. Patients with certain CYP2B6 genetic polymorphisms may be at increased risk for adverse effects, particularly central nervous system toxicity and treatment discontinuation.|PharmGKB|N|
C3281160|FKBP14 kyphoscoliotic Ehlers-Danlos syndrome (FKBP14-kEDS) is characterized by congenital muscle hypotonia and weakness (typically improving during childhood), progressive scoliosis, joint hypermobility, hyperelastic skin, gross motor developmental delay, myopathy, and hearing impairment. Most affected children achieve independent walking between ages two and four years. A decline of motor function in adulthood may be seen, but affected individuals are likely to be able to participate in activities of daily living in adulthood and maintain independent walking. Occasional features underlying systemic connective tissue involvement include aortic rupture and arterial dissection, subdural hygroma, insufficiency of cardiac valves, bluish sclerae, bladder diverticula, inguinal or umbilical herniae, and premature rupture of membranes during pregnancy. Rarer findings may include bifid uvula with submucous or frank cleft palate, speech/language delay without true cognitive impairment, and rectal prolapse.|GeneReviews|N|
C3281191|SCN8A-related epilepsy with encephalopathy is characterized by developmental delay, seizure onset in the first 18 months of life (mean 4 months), and intractable epilepsy characterized by multiple seizure types (generalized tonic-clonic seizures, infantile spasms, and absence and focal seizures). Epilepsy syndromes can include Lennox-Gastaut syndrome, West syndrome, and epileptic encephalopathies (e.g., Dravet syndrome). Hypotonia and movement disorders including dystonia, ataxia, and choreoathetosis are common. Psychomotor development varies from normal prior to seizure onset (with subsequent slowing or regression after seizure onset) to abnormal from birth. Intellectual disability, present in all, ranges from mild to severe (in ~50% of affected individuals). Autistic features are noted in some. Sudden unexpected death in epilepsy (SUDEP) of unknown cause has been reported in approximately 10% of published cases. To date SCN8A-related epilepsy with encephalopathy has been reported in the literature in about 50 individuals.|GeneReviews|N|
C3281192|Infantile cerebellar-retinal degeneration (ICRD) is a severe autosomal recessive neurodegenerative disorder characterized by onset between ages 2 and 6 months of truncal hypotonia, athetosis, seizures, and ophthalmologic abnormalities, particularly optic atrophy and retinal degeneration. Affected individuals show profound psychomotor retardation, with only some achieving rolling, sitting, or recognition of family. Brain MRI shows progressive cerebral and cerebellar degeneration (summary by Spiegel et al., 2012). A subset of patients may have a milder phenotype with variable features, including ataxia, developmental delay, and behavioral abnormalities (Blackburn et al., 2020).
Mutation in the ACO2 gene also causes isolated optic atrophy (OPA9; 616289).|OMIM|N|
C3281200|Leukoencephalopathy, brain calcifications, and cysts (LCC), also known as Labrune syndrome, is characterized by a constellation of features restricted to the central nervous system, including leukoencephalopathy, brain calcifications, and cysts, resulting in spasticity, dystonia, seizures, and cognitive decline (summary by Labrune et al., 1996).
See also cerebroretinal microangiopathy with calcifications and cysts (CRMCC; 612199), an autosomal recessive disorder caused by mutation in the CTC1 gene (613129) that shows phenotypic similarities to Labrune syndrome. CRMCC includes the neurologic findings of intracranial calcifications, leukodystrophy, and brain cysts, but also includes retinal vascular abnormalities and other systemic manifestations, such as osteopenia with poor bone healing, a high risk of gastrointestinal bleeding, hair, skin, and nail changes, and anemia and thrombocytopenia. Although Coats plus syndrome and Labrune syndrome were initially thought to be manifestations of the same disorder, namely CRMCC, molecular evidence has excluded mutations in the CTC1 gene in patients with Labrune syndrome, suggesting that the 2 disorders are not allelic (Anderson et al., 2012; Polvi et al., 2012).|OMIM|N|
C3281201|Coffin-Siris syndrome (CSS) is classically characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth and additional digits, developmental or cognitive delay of varying degree, distinctive facial features, hypotonia, hirsutism/hypertrichosis, and sparse scalp hair. Congenital anomalies can include malformations of the cardiac, gastrointestinal, genitourinary, and/or central nervous systems. Other findings commonly include feeding difficulties, slow growth, ophthalmologic abnormalities, and hearing impairment.|GeneReviews|N|
C3281202|Complex cortical dysplasia with other brain malformations-13 (CDCBM13) is an autosomal dominant neurodevelopmental disorder characterized by global developmental delay with impaired intellectual development. Brain imaging shows variable neuronal migration defects resulting in cortical malformations, including pachygyria. More variable features include early-onset seizures and dysmorphic features. Some patients may also show signs of peripheral neuropathy, such as abnormal gait, hyporeflexia, and foot deformities (summary by Willemsen et al., 2012 and Poirier et al., 2013).
For a discussion of genetic heterogeneity of CDCBM, see CDCBM1 (614039).|OMIM|N|
C3281203|Patients with this syndrome develop cutaneous telangiectases in infancy with patchy alopecia over areas of affected skin, thinning of the lateral eyebrows, and mild dental and nail anomalies. Affected individuals are at increased risk of developing oropharyngeal cancer, and other malignancies have been reported as well (Tanaka et al., 2012).|OMIM|N|
C3281215|Complete congenital stationary night blindness (cCSNB) is a clinically and genetically heterogeneous group of retinal disorders characterized by nonprogressive impairment of night vision, absence of the electroretinogram (ERG) b-wave, and variable degrees of involvement of other visual functions. Individuals with cCSNB and animal models of the disorder have an ERG waveform that lacks the b-wave because of failure to transmit the photoreceptor signal through the retinal depolarizing bipolar cells (summary by Peachey et al., 2012).
For a general phenotypic description and a discussion of genetic heterogeneity of congenital stationary night blindness, see CSNB1A (310500).|OMIM|N|
C3281223|Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS) is an autosomal recessive adult-onset, slowly progressive neurologic disorder characterized by imbalance due to cerebellar gait and limb ataxia, impaired vestibular function bilaterally, and non-length-dependent sensory neuropathy (summary by Szmulewicz et al., 2011).|OMIM|N|
C3281235|Baraitser-Winter cerebrofrontofacial (BWCFF) syndrome is a multiple congenital anomaly syndrome characterized by typical craniofacial features and intellectual disability. Many (but not all) affected individuals have pachygyria that is predominantly frontal, wasting of the shoulder girdle muscles, and sensory impairment due to iris or retinal coloboma and/or sensorineural deafness. Intellectual disability, which is common but variable, is related to the severity of the brain malformations. Seizures, congenital heart defects, renal malformations, and gastrointestinal dysfunction are also common.|GeneReviews|N|
C3281236|Dystonia-21 (DYT21) is an autosomal dominant form of pure torsion dystonia, a movement disorder characterized by sustained muscle contractions causing twisting and repetitive movements and abnormal postures (summary by Norgren et al., 2011).|OMIM|N|
C3281245|Podoconiosis, or endemic nonfilarial elephantiasis, is a noninfectious geochemical disease characterized by edema of the foot and lower leg that progresses to severe elephantiasis. It is a chronic and debilitating disorder that is a public health problem in at least 10 countries in tropical Africa, Central America, and northern India. Podoconiosis occurs among subsistence farmers and other occupational groups whose feet are exposed over many years to red clay soil derived from alkalic volcanic rock. However, podoconiosis develops only in a subgroup of exposed people, and studies have shown familial clustering with high heritability (summary by Davey et al. (2007) and Tekola Ayele et al. (2012)).|OMIM|N|
C3281247|Bent bone dysplasia syndrome-1 (BBDS1) is a perinatal lethal skeletal dysplasia characterized by poor mineralization of the calvarium, craniosynostosis, dysmorphic facial features, prenatal teeth, hypoplastic pubis and clavicles, osteopenia, and bent long bones (Merrill et al., 2012).
Genetic Heterogeneity of Bent Bone Dysplasia Syndrome
BBDS2 (620076) is caused by mutation in the LAMA5 gene (601033) on chromosome 20q13.|OMIM|N|
C3281288|Preeclampsia, which along with chronic hypertension and gestational hypertension comprise the hypertensive disorders of pregnancy, is characterized by new hypertension (blood pressure 140/90 or greater) presenting after 20 weeks' gestation with clinically relevant proteinuria. Preeclampsia is 1 of the top 4 causes of maternal mortality and morbidity worldwide (summary by Payne et al., 2011).
For a general phenotypic description and a discussion of genetic heterogeneity of preeclampsia/eclampsia, see PEE1 (189800).|OMIM|N|
C3281289|Trichohepatoenteric syndrome (THES), generally considered to be a neonatal enteropathy, is characterized by intractable diarrhea (seen in almost all affected children), woolly hair (seen in all), intrauterine growth restriction, facial dysmorphism, and short stature. Additional findings include poorly characterized immunodeficiency, recurrent infections, skin abnormalities, and liver disease. Mild intellectual disability (ID) is seen in about 50% of affected individuals. Less common findings include congenital heart defects and platelet anomalies. To date 52 affected individuals have been reported.|GeneReviews|N|
C3281297|Autosomal dominant deafness-4B is a form of nonsyndromic progressive sensorineural hearing loss with postlingual onset (summary by Wang et al., 2015)|OMIM|N|
C3282903|A carcinoma that has spread to the liver from another primary anatomic site. Representative examples include metastatic carcinomas from the colon, breast, and lung.|NCI|N|
C3282904|A hemangioma with cavernous vascular spaces arising from the liver. It is the most frequent benign tumor of the liver and usually affects young females.|NCI|N|
C3463824|Myelodysplastic syndrome (MDS) is a heterogeneous group of clonal hematologic stem cell disorders characterized by ineffective hematopoiesis resulting in low blood counts, most commonly anemia, and a risk of progression to acute myeloid leukemia (AML; 601626). Blood smears and bone marrow biopsies show dysplastic changes in myeloid cells, with abnormal proliferation and differentiation of 1 or more lineages (erythroid, myeloid, megakaryocytic). MDS can be subdivided into several categories based on morphologic characteristics, such as low-grade refractory anemia (RA) or high-grade refractory anemia with excess blasts (RAEB). Bone marrow biopsies of some patients show ringed sideroblasts (RARS), which reflects abnormal iron staining in mitochondria surrounding the nucleus of erythrocyte progenitors (summary by Delhommeau et al., 2009 and Papaemmanuil et al., 2011).|OMIM|N|
C3463897|Hydatidiform moles are not naturally discharged from the body and must be surgically removed, typically by the end of the first trimester. After removal, there is up to a 20 percent risk that any tissue left behind will continue to grow and become a cancerous (malignant) tumor called a persistent mole. If the tumor invades the surrounding tissue of the uterus, it is called an invasive mole. In rare cases, this malignant tumor can transform into a different form of cancer called gestational choriocarcinoma that can spread (metastasize) to other tissues such as the liver, lungs, or brain.\n\nThe first symptom of a hydatidiform mole is often vaginal bleeding in the first trimester of pregnancy. During an ultrasound examination, the abnormal placenta appears as numerous small sacs, often described as resembling a bunch of grapes.\n\nRecurrent hydatidiform mole is a condition that affects women and is characterized by the occurrence of at least two abnormal pregnancies that result in the formation of hydatidiform moles. A hydatidiform mole is a mass that forms early in pregnancy and is made up of cells from an abnormally developed embryo and placenta. Normally, the embryo would develop into a fetus and the placenta would grow to provide nutrients to the growing fetus. When a hydatidiform mole occurs once, it is known as sporadic hydatidiform mole; if it happens again, the condition is known as recurrent hydatidiform mole.|MedlinePlus Genetics|N|
C3463916|C3 glomerulopathy (C3G) is a complex ultra-rare complement-mediated renal disease caused by uncontrolled activation of the complement alternative pathway (AP) in the fluid phase (as opposed to cell surface) that is rarely inherited in a simple mendelian fashion. C3G affects individuals of all ages, with a median age at diagnosis of 23 years. Individuals with C3G typically present with hematuria, proteinuria, hematuria and proteinuria, acute nephritic syndrome or nephrotic syndrome, and low levels of the complement component C3. Spontaneous remission of C3G is uncommon, and about half of affected individuals develop end-stage renal disease (ESRD) within ten years of diagnosis, occasionally developing the late comorbidity of impaired visual acuity.|GeneReviews|N|
C3463917|CMO type II deficiency is an autosomal recessive disorder caused by a defect in the final biochemical step of aldosterone biosynthesis, the 18-hydroxylation of 18-hydroxycorticosterone (18-OHB) to aldosterone. This enzymatic defect results in decreased aldosterone and salt-wasting associated with an increased serum ratio of 18-OHB to aldosterone. In CMO II deficiency, aldosterone can be low or normal, but at the expense of increased secretion of 18-OHB. These patients have a low ratio of corticosterone to 18-OHB (Portrat-Doyen et al., 1998).
The CYP11B2 gene product also catalyzes an earlier step in aldosterone biosynthesis: the 18-hydroxylation of corticosterone to 18-OHB. A defect in that enzymatic step results in CMO type I deficiency (204300), an allelic disorder with an overlapping phenotype but distinct biochemical features. In CMO I deficiency, aldosterone is undetectable, whereas its immediate precursor, 18-OHB, is low or normal (Portrat-Doyen et al., 1998).|OMIM|N|
C3463992|Developmental and epileptic encephalopathy-1 (DEE1) is a severe form of epilepsy characterized by frequent tonic seizures or spasms beginning in infancy with a specific EEG finding of suppression-burst patterns, characterized by high-voltage bursts alternating with almost flat suppression phases. Approximately 75% of DEE1 patients progress to tonic spasms with clustering, arrest of psychomotor development, and hypsarrhythmia on EEG (Kato et al., 2007).
DEE1 is part of a phenotypic spectrum of disorders caused by mutation in the ARX gene comprising a nearly continuous series of developmental disorders ranging from lissencephaly (LISX2; 300215) to Proud syndrome (300004) to infantile spasms without brain malformations (DEE) to syndromic (309510) and nonsyndromic (300419) mental retardation. Although males with ARX mutations are often more severely affected, female mutation carriers may also be affected (Kato et al., 2004; Wallerstein et al., 2008).
Reviews
Deprez et al. (2009) reviewed the genetics of epilepsy syndromes starting in the first year of life and included a diagnostic algorithm.
Genetic Heterogeneity of Developmental and Epileptic Encephalopathy
Also see DEE2 (300672), caused by mutation in the CDKL5 gene (300203); DEE3 (609304), caused by mutation in the SLC25A22 gene (609302); DEE4 (612164), caused by mutation in the STXBP1 gene (602926); DEE5 (613477), caused by mutation in the SPTAN1 gene (182810); DEE6A (607208), also known as Dravet syndrome, caused by mutation in the SCN1A gene (182389); DEE6B (619317), also caused by mutation in the SCN1A gene; DEE7 (613720), caused by mutation in the KCNQ2 gene (602235); DEE8 (300607), caused by mutation in the ARHGEF9 gene (300429); DEE9 (300088), caused by mutation in the PCDH19 gene (300460); DEE10 (613402), caused by mutation in the PNKP gene (605610); DEE11 (613721), caused by mutation in the SCN2A gene (182390); DEE12 (613722), caused by mutation in the PLCB1 gene (607120); DEE13 (614558), caused by mutation in the SCN8A gene (600702); DEE14 (614959), caused by mutation in the KCNT1 gene (608167); DEE15 (615006), caused by mutation in the ST3GAL3 gene (606494); DEE16 (615338), caused by mutation in the TBC1D24 gene (613577); DEE17 (615473), caused by mutation in the GNAO1 gene (139311); DEE18 (615476), caused by mutation in the SZT2 gene (615463); DEE19 (615744), caused by mutation in the GABRA1 gene (137160); DEE20 (300868), caused by mutation in the PIGA gene (311770); DEE21 (615833), caused by mutation in the NECAP1 gene (611623); DEE22 (300896), caused by mutation in the SLC35A2 gene (314375); DEE23 (615859), caused by mutation in the DOCK7 gene (615730); DEE24 (615871), caused by mutation in the HCN1 gene (602780); DEE25 (615905), caused by mutation in the SLC13A5 gene (608305); DEE26 (616056), caused by mutation in the KCNB1 gene (600397); DEE27 (616139), caused by mutation in the GRIN2B gene (138252); DEE28 (616211), caused by mutation in the WWOX gene (605131); DEE29 (616339), caused by mutation in the AARS gene (601065); DEE30 (616341), caused by mutation in the SIK1 gene (605705); DEE31A (616346) and DEE31B (620352), caused by mutation in the DNM1 gene (602377); DEE32 (616366), caused by mutation in the KCNA2 gene (176262); DEE33 (616409), caused by mutation in the EEF1A2 gene (602959); DEE34 (616645), caused by mutation in the SLC12A5 gene (606726); DEE35 (616647), caused by mutation in the ITPA gene (147520); DEE36 (300884), caused by mutation in the ALG13 gene (300776); DEE37 (616981), caused by mutation in the FRRS1L gene (604574); DEE38 (617020), caused by mutation in the ARV1 gene (611647); DEE39 (612949), caused by mutation in the SLC25A12 gene (603667); DEE40 (617065), caused by mutation in the GUF1 gene (617064); DEE41 (617105), caused by mutation in the SLC1A2 gene (600300); DEE42 (617106), caused by mutation in the CACNA1A gene (601011); DEE43 (617113), caused by mutation in the GABRB3 gene (137192); DEE44 (617132), caused by mutation in the UBA5 gene (610552); DEE45 (617153), caused by mutation in the GABRB1 gene (137190); DEE46 (617162), caused by mutation in the GRIN2D gene (602717); DEE47 (617166), caused by mutation in the FGF12 gene (601513); DEE48 (617276), caused by mutation in the AP3B2 gene (602166); DEE49 (617281), caused by mutation in the DENND5A gene (617278); DEE50 (616457) caused by mutation in the CAD gene (114010); DEE51 (617339), caused by mutation in the MDH2 gene (154100); DEE52 (617350), caused by mutation in the SCN1B gene (600235); DEE53 (617389), caused by mutation in the SYNJ1 gene (604297); DEE54 (617391), caused by mutation in the HNRNPU gene (602869); DEE55 (617599), caused by mutation in the PIGP gene (605938); DEE56 (617665), caused by mutation in the YWHAG gene (605356); DEE57 (617771), caused by mutation in the KCNT2 gene (610044); DEE58 (617830), caused by mutation in the NTRK2 gene (600456); DEE59 (617904), caused by mutation in the GABBR2 gene (607340); DEE60 (617929), caused by mutation in the CNPY3 gene (610774); DEE61 (617933), caused by mutation in the ADAM22 gene (603709); DEE62 (617938), caused by mutation in the SCN3A gene (182391); DEE63 (617976), caused by mutation in the CPLX1 gene (605032); DEE64 (618004), caused by mutation in the RHOBTB2 gene (607352); DEE65 (618008), caused by mutation in the CYFIP2 gene (606323); DEE66 (618067), caused by mutation in the PACS2 gene (610423); DEE67 (618141), caused by mutation in the CUX2 gene (610648); DEE68 (618201), caused by mutation in the TRAK1 gene (608112); DEE69 (618285), caused by mutation in the CACNA1E gene (601013); DEE70 (618298) caused by mutation in the PHACTR1 gene (608723); DEE71 (618328), caused by mutation in the GLS gene (138280); DEE72 (618374), caused by mutation in the NEUROD2 gene (601725); DEE73 (618379), caused by mutation in the RNF13 gene (609247); DEE74 (618396), caused by mutation in the GABRG2 gene (137164); DEE75 (618437), caused by mutation in the PARS2 gene (612036); DEE76 (618468), caused by mutation in the ACTL6B gene (612458); DEE77 (618548), caused by mutation in the PIGQ gene (605754); DEE78 (618557), caused by mutation in the GABRA2 gene (137140); DEE79 (618559), caused by mutation in the GABRA5 gene (137142); DEE80 (618580), caused by mutation in the PIGB gene (604122); DEE81 (618663), caused by mutation in the DMXL2 gene (612186); DEE82 (618721), caused by mutation in the GOT2 gene (138150); DEE83 (618744), caused by mutation in the UGP2 gene (191760); DEE84 (618792), caused by mutation in the UGDH gene (603370); DEE85 (301044), caused by mutation in the SMC1A gene (300040); DEE86 (618910), caused by mutation in the DALRD3 gene (618904); DEE87 (618916), caused by mutation in the CDK19 gene (614720); DEE88 (618959), caused by mutation in the MDH1 gene (152400); DEE89 (619124), caused by mutation in the GAD1 gene (605363); DEE90 (301058), caused by mutation in the FGF13 gene (300070); DEE91 (617711), caused by mutation in the PPP3CA gene (114105); DEE92 (617829), caused by mutation in the GABRB2 gene (600232); DEE93 (618012), caused by mutation in the ATP6V1A gene (607027); DEE94 (615369), caused by mutation in the CHD2 gene (602119); DEE95 (618143), caused by mutation in the PIGS gene (610271); DEE96 (619340), caused by mutation in the NSF gene (601633); DEE97 (619561), caused by mutation in the iCELF2 gene (602538); DEE98 (619605), caused by mutation in the ATP1A2 gene (182340); DEE99 (619606), caused by mutation in the ATP1A3 gene (182350); DEE100 (619777), caused by mutation in the FBXO28 gene (609100); DEE101 (619814), caused by mutation in the GRIN1 gene (138249); DEE102 (619881), caused by mutation in the SLC38A3 gene (604437); DEE103 (619913), caused by mutation in the KCNC2 gene (176256); DEE104 (619970), caused by mutation in the ATP6V0A1 gene (192130); DEE105 (619983), caused by mutation in the HID1 gene (605752); DEE106 (620028), caused by mutation in the UFSP2 gene (611482); DEE107 (620033), caused by mutation in the NAPB gene (|OMIM|N|
C3468041|Fanconi anemia (FA) is characterized by physical abnormalities, bone marrow failure, and increased risk for malignancy. Physical abnormalities, present in approximately 75% of affected individuals, include one or more of the following: short stature, abnormal skin pigmentation, skeletal malformations of the upper and/or lower limbs, microcephaly, and ophthalmic and genitourinary tract anomalies. Progressive bone marrow failure with pancytopenia typically presents in the first decade, often initially with thrombocytopenia or leukopenia. The incidence of acute myeloid leukemia is 13% by age 50 years. Solid tumors – particularly of the head and neck, skin, and genitourinary tract – are more common in individuals with FA.|GeneReviews|N|
C3468050|An anaplastic (malignant) meningioma occurring in adults.|NCI|N|
C3468114|A very rare severe motor neuron disease with manifestation of progressive upper and lower motor neuron degeneration causing facial spasticity, dysarthria, and gait disorders with onset before 25 years of age. The disease is usually slowly progressive and some patients have been reported to become bedridden by 12 to 50 years of age. Mutations in the following genes have been found in patients ALS2 (2q33-q35), and rarely SIGMAR1 (9p13.3), SPG11 (15q13-q15) and FUS (16p11.2).|SNOMEDCT_US|N|
C3468561|Inherited atrial fibrillation that is not due to a structural abnormality or secondary cause. The condition usually occurs in people under 60 years of age.|SNOMEDCT_US|N|
C3469186|HFE hemochromatosis is characterized by inappropriately high absorption of iron by the small intestinal mucosa. The phenotypic spectrum of HFE hemochromatosis includes: Persons with clinical HFE hemochromatosis, in whom manifestations of end-organ damage secondary to iron overload are present; Individuals with biochemical HFE hemochromatosis, in whom transferrin-iron saturation is increased and the only evidence of iron overload is increased serum ferritin concentration; and Non-expressing p.Cys282Tyr homozygotes, in whom neither clinical manifestations of HFE hemochromatosis nor iron overload are present. Clinical HFE hemochromatosis is characterized by excessive storage of iron in the liver, skin, pancreas, heart, joints, and anterior pituitary gland. In untreated individuals, early symptoms include: abdominal pain, weakness, lethargy, weight loss, arthralgias, diabetes mellitus; and increased risk of cirrhosis when the serum ferritin is higher than 1,000 ng/mL. Other findings may include progressive increase in skin pigmentation, congestive heart failure, and/or arrhythmias, arthritis, and hypogonadism. Clinical HFE hemochromatosis is more common in men than women.|GeneReviews|N|
C3469521|Fanconi anemia (FA) is characterized by physical abnormalities, bone marrow failure, and increased risk for malignancy. Physical abnormalities, present in approximately 75% of affected individuals, include one or more of the following: short stature, abnormal skin pigmentation, skeletal malformations of the upper and/or lower limbs, microcephaly, and ophthalmic and genitourinary tract anomalies. Progressive bone marrow failure with pancytopenia typically presents in the first decade, often initially with thrombocytopenia or leukopenia. The incidence of acute myeloid leukemia is 13% by age 50 years. Solid tumors – particularly of the head and neck, skin, and genitourinary tract – are more common in individuals with FA.|GeneReviews|N|
C3469522|Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. Although breast cancer is much more common in women, this form of cancer can also develop in men.  In both women and men, the most common form of breast cancer begins in cells lining the milk ducts (ductal cancer). In women, cancer can also develop in the glands that produce milk (lobular cancer). Most men have little or no lobular tissue, so lobular cancer in men is very rare. \n\nIn its early stages, breast cancer usually does not cause pain and may exhibit no noticeable symptoms. As the cancer progresses, signs and symptoms can include a lump or thickening in or near the breast; a change in the size or shape of the breast; nipple discharge, tenderness, or retraction (turning inward); and skin irritation, dimpling, redness, or scaliness. However, these changes can occur as part of many different conditions. Having one or more of these symptoms does not mean that a person definitely has breast cancer.\n\nIn some cases, cancerous cells can invade surrounding breast tissue. In these cases, the condition is known as invasive breast cancer. Sometimes, tumors spread to other parts of the body. If breast cancer spreads, cancerous cells most often appear in the bones, liver, lungs, or brain. Tumors that begin at one site and then spread to other areas of the body are called metastatic cancers.\n\nA small percentage of all breast cancers cluster in families. These cancers are described as hereditary and are associated with inherited gene mutations. Hereditary breast cancers tend to develop earlier in life than noninherited (sporadic) cases, and new (primary) tumors are more likely to develop in both breasts.|MedlinePlus Genetics|N|
C3469526|Fanconi anemia (FA) is characterized by physical abnormalities, bone marrow failure, and increased risk for malignancy. Physical abnormalities, present in approximately 75% of affected individuals, include one or more of the following: short stature, abnormal skin pigmentation, skeletal malformations of the upper and/or lower limbs, microcephaly, and ophthalmic and genitourinary tract anomalies. Progressive bone marrow failure with pancytopenia typically presents in the first decade, often initially with thrombocytopenia or leukopenia. The incidence of acute myeloid leukemia is 13% by age 50 years. Solid tumors – particularly of the head and neck, skin, and genitourinary tract – are more common in individuals with FA.|GeneReviews|N|
C3469527|Fanconi anemia (FA) is characterized by physical abnormalities, bone marrow failure, and increased risk for malignancy. Physical abnormalities, present in approximately 75% of affected individuals, include one or more of the following: short stature, abnormal skin pigmentation, skeletal malformations of the upper and/or lower limbs, microcephaly, and ophthalmic and genitourinary tract anomalies. Progressive bone marrow failure with pancytopenia typically presents in the first decade, often initially with thrombocytopenia or leukopenia. The incidence of acute myeloid leukemia is 13% by age 50 years. Solid tumors – particularly of the head and neck, skin, and genitourinary tract – are more common in individuals with FA.|GeneReviews|N|
C3469528|Fanconi anemia (FA) is characterized by physical abnormalities, bone marrow failure, and increased risk for malignancy. Physical abnormalities, present in approximately 75% of affected individuals, include one or more of the following: short stature, abnormal skin pigmentation, skeletal malformations of the upper and/or lower limbs, microcephaly, and ophthalmic and genitourinary tract anomalies. Progressive bone marrow failure with pancytopenia typically presents in the first decade, often initially with thrombocytopenia or leukopenia. The incidence of acute myeloid leukemia is 13% by age 50 years. Solid tumors – particularly of the head and neck, skin, and genitourinary tract – are more common in individuals with FA.|GeneReviews|N|
C3469529|Fanconi anemia (FA) is characterized by physical abnormalities, bone marrow failure, and increased risk for malignancy. Physical abnormalities, present in approximately 75% of affected individuals, include one or more of the following: short stature, abnormal skin pigmentation, skeletal malformations of the upper and/or lower limbs, microcephaly, and ophthalmic and genitourinary tract anomalies. Progressive bone marrow failure with pancytopenia typically presents in the first decade, often initially with thrombocytopenia or leukopenia. The incidence of acute myeloid leukemia is 13% by age 50 years. Solid tumors – particularly of the head and neck, skin, and genitourinary tract – are more common in individuals with FA.|GeneReviews|N|
C3469542|Fanconi anemia (FA) is characterized by physical abnormalities, bone marrow failure, and increased risk for malignancy. Physical abnormalities, present in approximately 75% of affected individuals, include one or more of the following: short stature, abnormal skin pigmentation, skeletal malformations of the upper and/or lower limbs, microcephaly, and ophthalmic and genitourinary tract anomalies. Progressive bone marrow failure with pancytopenia typically presents in the first decade, often initially with thrombocytopenia or leukopenia. The incidence of acute myeloid leukemia is 13% by age 50 years. Solid tumors – particularly of the head and neck, skin, and genitourinary tract – are more common in individuals with FA.|GeneReviews|N|
C3469605|Pseudohypoaldosteronism type II (PHAII) is characterized by hyperkalemia despite normal glomerular filtration rate (GFR) and frequently by hypertension. Other associated findings in both children and adults include hyperchloremia, metabolic acidosis, and suppressed plasma renin levels. Aldosterone levels are variable, but are relatively low given the degree of hyperkalemia (elevated serum potassium is a potent stimulus for aldosterone secretion). Hypercalciuria is well described.|GeneReviews|N|
C3469606|Pseudohypoaldosteronism type II (PHAII) is characterized by hyperkalemia despite normal glomerular filtration rate (GFR) and frequently by hypertension. Other associated findings in both children and adults include hyperchloremia, metabolic acidosis, and suppressed plasma renin levels. Aldosterone levels are variable, but are relatively low given the degree of hyperkalemia (elevated serum potassium is a potent stimulus for aldosterone secretion). Hypercalciuria is well described.|GeneReviews|N|
C3472165|Right coronary artery begins (branches off from) the pulmonary artery rather than as normal from the root of the aorta, above the right cusp of the aortic valve.|HPO|N|
C3472249|A time mismatch between patient''s inspiratory effort and MECHANICAL VENTILATOR''s inspiratory time.|MSH|N|
C3472607|An invasive adenocarcinoma that arises from the ampulla of Vater. It is characterized by the presence of malignant cells that resemble the malignant cells of the pancreatic ductal or extrahepatic bile duct carcinomas.|NCI|N|
C3472608|A carcinoma characterized by the presence of a predominant micropapillary pattern.|NCI|N|
C3472609|A carcinoma that arises from the pancreas showing either extensive mucin accumulation and acinar neoplastic cells or a mixture of columnar or signet-ring cells and acinar neoplastic cells.|NCI|N|
C3472610|A rare malignant tumor that arises from the liver and occurs in children. It is characterized by the presence of nested epithelioid and spindle cells. Desmoplasia, calcifications, and bone formation may also be present.|NCI|N|
C3472614|A rare aggressive B-cell non-Hodgkin lymphoma characterized by neoplastic cells resembling B immunoblasts or plasmablasts with a CD20-negative plasmacytic phenotype. The tumor may occur in the oral cavity, the gastrointestinal tract, or other, predominantly extranodal, sites and is typically associated with immunodeficiency or -suppression. The tumor cells are EBV-positive in most cases. Patients often present with disseminated bone involvement. Paraproteinemia may also be detected. Prognosis is generally poor.|ORDO|N|
C3472615|An aggressive diffuse large B-cell lymphoma occurring in patients with HHV8-positive multicentric Castleman disease. It is characterized by the presence of human herpesvirus 8-infected large B-lymphocytes that resemble plasmablasts. It is usually seen in patients with HIV infection.|NCI|N|
C3472616|A rare mixed phenotype acute leukemia in which the blasts express B-lymphoid and myeloid lineage markers but are negative for MLL translocation and t(9;22)(q34;q11.2) translocation. The prognosis is usually unfavorable.|NCI|N|
C3472621|A rare, malignant, neoplastic disease characterized by clonal proliferation of myeloid and/or lymphoid precursors harboring rearrangements in the PDGFRB gene, in the blood, bone marrow and often other tissues as well (spleen, lymph nodes, skin, etc.). It usually presents as chronic myelomonocytic leukemia with eosinophilia, chronic eosinophilic leukemia, atypical chronic myelogenous leukemia, juvenile myelomonocytic leukemia, myelodysplastic syndrome, acute myeloid leukemia or acute lymphoblastic leukemia. Patients usually present with anemia, leukocytosis, monocytosis, eosinophilia and/or splenomegaly, or systemic symptoms, such as fever, sweating and/or weight loss.|ORDO|N|
C3472657|Urachal sinus is a type of congenital urachal anomaly (see this term) resulting from the failure of the umbilical end of the urachus to close, without continuity to the bladder, and that is usually asymptomatic but can present with continuous cloudy umbilical discharge, tender midline infraumbilical mass and fever when infected.|ORDO|N|
C3472679|A rare bacterial infectious disease caused by non-tuberculous mycobacteria (including <i>Mycobacterium avium</i> complex, <i>Mycobacterium kansasii</i>, or <i>Mycobacterium xenopi</i>, among others), characterized by chronic pulmonary disease with symptoms like chronic cough (with or without sputum production), chest pain, and weight loss. Predisposing factors are preexisting lung conditions, neoplasms, immunosuppression, or thoracic skeletal abnormalities.|ORDO|N|
C3472711|Spinocerebellar ataxia-36 (SCA36) is a slowly progressive neurodegenerative disorder characterized by adult-onset gait ataxia, eye movement abnormalities, tongue fasciculations, and variable upper motor neuron signs. Some affected individuals may develop hearing loss (summary by Garcia-Murias et al., 2012).
For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (164400).|OMIM|N|
C3476206|A question about whether an individual feels or felt that their health is excellent.|NCI|N|
C3484357|Hermansky-Pudlak syndrome (HPS) is characterized by oculocutaneous albinism, a bleeding diathesis, and, in some individuals, pulmonary fibrosis, granulomatous colitis, or immunodeficiency. Ocular findings include reduced iris pigment with iris transillumination, reduced retinal pigment, foveal hypoplasia with significant reduction in visual acuity (usually in the range of 20/50 to 20/400), nystagmus, and increased crossing of the optic nerve fibers. Hair color ranges from white to brown; skin color ranges from white to olive and is usually a shade lighter than that of other family members. The bleeding diathesis can result in variable bruising, epistaxis, gingival bleeding, postpartum hemorrhage, colonic bleeding, and prolonged bleeding with menses or after tooth extraction, circumcision, and other surgeries. Pulmonary fibrosis, a restrictive lung disease, typically causes symptoms in the early thirties and can progress to death within a decade. Granulomatous colitis is severe in about 15% of affected individuals. Neutropenia and/or immune defects occur primarily in individuals with pathogenic variants in AP3B1 and AP3D1.|GeneReviews|N|
C3489393|The presence of a hernia in which the upper part of the stomach, i.e., mainly the gastric cardia protrudes through the diaphragmatic esophageal hiatus.|HPO|N|
C3489396|Hypogonadotropic hypogonadism not associated with a deficiency of other pituitary hormones.|NCI|N|
C3489398|The Ewing sarcoma family of tumors (primitive neuroectodermal tumors; PNET) comprise morphologically heterogeneous tumors that are characterized by nonrandom chromosomal translocations involving the EWS gene on chromosome 22q12 and one of several members of the ETS family of transcription factors. The tumors include Ewing sarcoma, peripheral neuroepithelioma, and Askin tumor. In approximately 90% of cases of ESFT, the FLI1 gene (193067) on chromosome 11 is the fusion partner of EWS; in approximately 10%, the EWS fusion partner is the ERG gene (165080) on chromosome 22. Many other ETS family members have been identified as fusion partners of EWS, but these cases are rare (Khoury, 2005).|OMIM|N|
C3489529|Any tooth agenesis in which the cause of the disease is a mutation in the MSX1 gene characterized by varying severity of tooth agenesis that may be seen in combination with orofacial clefting in some individuals.|MONDO|N|
C3489532|Cone-rod dystrophy (CORD) characteristically leads to early impairment of vision. An initial loss of color vision and of visual acuity is followed by nyctalopia (night blindness) and loss of peripheral visual fields. In extreme cases, these progressive symptoms are accompanied by widespread, advancing retinal pigmentation and chorioretinal atrophy of the central and peripheral retina (Moore, 1992). In many families, perhaps a majority, central and peripheral chorioretinal atrophy is not found (Tzekov, 1998).
Genetic Heterogeneity of Autosomal Cone-Rod Dystrophy
There are several other autosomal forms of CORD for which the molecular basis is known. CORD3 (604116) is caused by mutation in the ABCA4 gene (601691) on chromosome 1p22. CORD5 (600977) is caused by mutation in the PITPNM3 gene (608921) on chromosome 17p13. CORD6 (601777) is caused by mutation in the GUCY2D gene (600179) on chromosome 17p13.1. CORD9 (612775) is caused by mutation in the ADAM9 gene (602713) on chromosome 8p11. CORD10 (610283) is caused by mutation in the SEMA4A gene (607292) on chromosome 1q22. CORD11 (610381) is caused by mutation in the RAXL1 gene (610362) on chromosome 19p13. CORD12 (612657) is caused by mutation in the PROM1 gene (604365) on chromosome 4p15. CORD13 (608194) is caused by mutation in the RPGRIP1 gene (605446) on chromosome 14q11. CORD14 (see 602093) is caused by mutation in the GUCA1A gene (600364) on chromosome 6p21. CORD15 (613660) is caused by mutation in the CDHR1 gene (609502) on chromosome 10q23. CORD16 (614500) is caused by mutation in the C8ORF37 gene (614477) on chromosome 8q22. CORD18 (615374) is caused by mutation in the RAB28 gene (612994) on chromosome 4p15. CORD19 (615860) is caused by mutation in the TTLL5 gene (612268) on chromosome 14q24. CORD20 (615973) is caused by mutation in the POC1B gene (614784) on chromosome 12q21. CORD21 (616502) is caused by mutation in the DRAM2 gene (613360) on chromosome 1p13. CORD22 (619531) is caused by mutation in the TLCD3B gene (615175) on chromosome 16p11. CORD23 (see 613428) is caused by mutation in the C2ORF71 gene (PCARE; 613425) on chromosome 2p23. CORD24 (620342) is caused by mutation in the UNC119 gene (604011) on chromosome 17q11.
A diagnosis of CORD was made in an individual with a mutation in the AIPL1 gene (604392.0004) on chromosome 17p13.1, as well as in an individual with a mutation in the UNC119 gene (604011.0001) on chromosome 17q11.2.
Other mapped loci for autosomal CORD include CORD1 (600624) on chromosome 18q21.1-q21.3; CORD7 (603649) on chromosome 6q14; CORD8 (605549) on chromosome 1q12-q24; and CORD17 (615163) on chromosome 10q26.
For a discussion of X-linked forms of cone-rod dystrophy, see CORDX1 (304020).|OMIM|N|
C3489626|A condition marked by progressive cerebellar ataxia combined with myoclonus usually presenting in the third decade of life or later. Additional clinical features may include generalized and focal seizures, spasticity, and dyskinesias. Autosomal recessive and autosomal dominant patterns of inheritance have been reported. Pathologically, the dentate nucleus and brachium conjunctivum of the cerebellum are atrophic, with variable involvement of the spinal cord, cerebellar cortex, and basal ganglia. (From Joynt, Clinical Neurology, 1991, Ch37, pp60-1)|MONDO|N|
C3489627|Stuttering is a disorder of the flow of speech characterized by involuntary repetitions or prolongations of sounds or syllables, and by interruptions of speech known as blocks (summary by Raza et al., 2010). Stuttering typically arises in young children, where it affects at least 15% of those in age range 4 to 6 years (Bloodstein, 1995). Stuttering usually resolves spontaneously before adolescence, leading to a population prevalence of 1 to 2% among adults. Stuttering beyond childhood is characterized by a significant bias towards males, with males outnumbering females by a ratio of 3:1 to 5:1 (Yairi et al., 1996).
Genetic Heterogeneity of Familial Persistent Stuttering
Also see STUT2 (609261), mapped to chromosome 12q24; STUT3 (614655), mapped to chromosome 3q; and STUT4 (614668) mapped to chromosome 16q.|OMIM|N|
C3489701|A rare aberrant human behavior involving consumption of excrement.|MSH|N|
C3489724|Most characteristically, Aicardi-Goutières syndrome (AGS) manifests as an early-onset encephalopathy that usually, but not always, results in severe intellectual and physical disability. A subgroup of infants with AGS present at birth with abnormal neurologic findings, hepatosplenomegaly, elevated liver enzymes, and thrombocytopenia, a picture highly suggestive of congenital infection. Otherwise, most affected infants present at variable times after the first few weeks of life, frequently after a period of apparently normal development. Typically, they demonstrate the subacute onset of a severe encephalopathy characterized by extreme irritability, intermittent sterile pyrexias, loss of skills, and slowing of head growth. Over time, as many as 40% develop chilblain skin lesions on the fingers, toes, and ears. It is becoming apparent that atypical, sometimes milder, cases of AGS exist, and thus the true extent of the phenotype associated with pathogenic variants in the AGS-related genes is not yet known.|GeneReviews|N|
C3489725|Pseudo-TORCH syndrome-1 (PTORCH1) is an autosomal recessive neurologic disorder with characteristic clinical and neuroradiologic features that mimic intrauterine TORCH infection in the absence of evidence of infection. Affected individuals have congenital microcephaly, intracranial calcifications, simplified gyration and polymicrogyria, and severe developmental delay (Reardon et al., 1994; O'Driscoll et al., 2010).
Crow et al. (2000, 2003) called attention to the phenotypic overlap of pseudo-TORCH syndrome and Aicardi-Goutieres syndrome (AGS; 225750), and even suggested that some cases may represent the same disorder. Congenital microcephaly, thrombocytopenia, hepatic dysfunction, and hepatosplenomegaly are usually associated with pseudo-TORCH syndrome and not with AGS, but some patients with AGS have shown these features.
Genetic Heterogeneity of Pseudo-TORCH Syndrome
See also PTORCH2 (617397), caused by mutation in the USP18 gene (607057) on chromosome 22q11, and PTORCH3 (618886), caused by mutation in the STAT2 gene (600556) on chromosome 12q13.|OMIM|N|
C3489726|A rare skeletal dysplasia characterized by short stature, prominent abnormalities in hands and feet, and a characteristic facial appearance (described as happy'').|ORDO|N|
C3489733|Ocular motor apraxia is a deficiency in voluntary, horizontal, lateral, fast eye movements (saccades) with retention of slow pursuit movements. The inability to follow objects visually is often compensated by head movements. There may be decreased smooth pursuit, and cancelation of the vestibulo-ocular reflex.|HPO|N|
C3489787|Combined pituitary hormone deficiency-3 (CPHD3) is an autosomal recessive disorder characterized by hypopituitarism with structural anterior pituitary defects and cervical abnormalities with or without restricted neck rotation. Some patients have sensorineural hearing loss (summary by Rajab et al., 2008).
For a discussion of phenotypic and genetic heterogeneity of combined pituitary hormone deficiency, see CPHD1 (613038).|OMIM|N|
C3489789|The phenotypic spectrum of ATP8B1 deficiency ranges from severe through moderate to mild. Severe ATP8B1 deficiency is characterized by infantile-onset cholestasis that progresses to cirrhosis, hepatic failure, and early death. Although mild-to-moderate ATP8B1 deficiency initially was thought to involve intermittent symptomatic cholestasis with a lack of hepatic fibrosis, it is now known that hepatic fibrosis may be present early in the disease course. Furthermore, in some persons with ATP8B1 deficiency the clinical findings can span the phenotypic spectrum, shifting over time from the mild end of the spectrum (episodic cholestasis) to the severe end of the spectrum (persistent cholestasis). Sensorineural hearing loss (SNHL) is common across the phenotypic spectrum.|GeneReviews|N|
C3489796|A rare, autosomal recessive inherited disorder usually caused by mutations in the THRB gene. It is characterized by a defective physiological resistance to thyroid hormones, resulting in the elevation of thyroxin and triiodothyronine in the serum.|MONDO|N|
C3492944|Familial generalized lentiginosis is a rare, inherited, skin hyperpigmentation disorder characterized by widespread lentigines without associated noncutaneous abnormalities. Patients present multiple brown to dark brown, non-elevated macula of 0.2 to 1 cm in diameter, spread over the entire body, sometimes including palms or soles, but never oral mucosa.|ORDO|N|
C3493776|Resistance to thyroid-stimulating hormone (TSH; see 188540), a hallmark of congenital nongoitrous hypothyroidism, causes increased levels of plasma TSH and low levels of thyroid hormone. Only a subset of patients develop frank hypothyroidism; the remainder are euthyroid and asymptomatic (so-called compensated hypothyroidism) and are usually detected by neonatal screening programs (Paschke and Ludgate, 1997).
Genetic Heterogeneity of Congenital Nongoitrous Hypothyroidism
Also see CHNG2 (218700), caused by mutation in the PAX8 gene (167415) on chromosome 2q14; CHNG3 (609893), mapped to chromosome 15q25.3; CHNG4 (275100), caused by mutation in the TSHB gene (188540) on chromosome 1p13; CHNG5 (225250), caused by mutation in the NKX2-5 gene (600584) on chromosome 5q35; CHNG6 (614450), caused by mutation in the THRA gene (190120) on chromosome 17q21; CHNG7 (618573), caused by mutation in the TRHR gene (188545) on chromosome 8q24; CHNG8 (301033), caused by mutation in the TBL1X gene (300196) on chromosome Xp22; and CHNG9 (301035), caused by mutation in the IRS4 gene (300904) on chromosome Xq22.|OMIM|N|
C3494174|Uncertain, limited, or unstable access to food that is adequate in quantity and in nutritional quality; culturally acceptable; safe and acquired in socially acceptable ways.|SNOMEDCT_US|N|
C3494175|Fused manidbular incisors is an extremely rare dental anomaly that is characterized by the union of two, normally separated, incisor tooth germs of the primary dentition. It is frequently associated with hypodontia (see this term) and an increased risk of pulp exposure.|ORDO|N|
C3494181|Hereditary paraganglioma-pheochromocytoma (PGL/PCC) syndromes are characterized by paragangliomas (tumors that arise from neuroendocrine tissues distributed along the paravertebral axis from the base of the skull to the pelvis) and pheochromocytomas (paragangliomas that are confined to the adrenal medulla). Sympathetic paragangliomas cause catecholamine excess; parasympathetic paragangliomas are most often nonsecretory. Extra-adrenal parasympathetic paragangliomas are located predominantly in the skull base and neck (referred to as head and neck PGL [HNPGL]) and sometimes in the upper mediastinum; approximately 95% of such tumors are nonsecretory. In contrast, sympathetic extra-adrenal paragangliomas are generally confined to the lower mediastinum, abdomen, and pelvis, and are typically secretory. Pheochromocytomas, which arise from the adrenal medulla, typically lead to catecholamine excess. Symptoms of PGL/PCC result from either mass effects or catecholamine hypersecretion (e.g., sustained or paroxysmal elevations in blood pressure, headache, episodic profuse sweating, forceful palpitations, pallor, and apprehension or anxiety). The risk for developing metastatic disease is greater for extra-adrenal sympathetic paragangliomas than for pheochromocytomas.|GeneReviews|N|
C3494358|Clinical or physiological indicators that precede the onset of disease.|MSH|N|
C3494359|Early event in disease onset|MSH|N|
C3494360|Time marking early onset of disease|MSH|N|
C3494361|Early onset of symptoms|MSH|N|
C3494374|A form of elephantiasis caused by soil particles which penetrate the skin of the foot. It is limited to tropical regions with soils of high volcanic content.|MSH|N|
C3494405|The death of the female parent.|MSH|N|
C3494419|An abnormality of the jaws or teeth affecting the contour of the face. Such abnormality could be acquired or congenital.|MSH|N|
C3494422|A physical misalignment of the upper (maxilla) and lower (mandibular) jaw bones in which either or both recede relative to the frontal plane of the forehead.|MSH|N|
C3494473|The formation of dense connective tissue and calcification in the TYMPANIC MEMBRANE that does not necessarily cause or lead to loss of hearing.|MSH|N|
C3494506|Disorders of GNAS inactivation include the phenotypes pseudohypoparathyroidism Ia, Ib, and Ic (PHP-Ia, -Ib, -Ic), pseudopseudohypoparathyroidism (PPHP), progressive osseous heteroplasia (POH), and osteoma cutis (OC). PHP-Ia and PHP-Ic are characterized by: End-organ resistance to endocrine hormones including parathyroid hormone (PTH), thyroid-stimulating hormone (TSH), gonadotropins (LH and FSH), growth hormone-releasing hormone (GHRH), and CNS neurotransmitters (leading to obesity and variable degrees of intellectual disability and developmental delay); and The Albright hereditary osteodystrophy (AHO) phenotype (short stature, round facies, and subcutaneous ossifications) and brachydactyly type E (shortening mainly of the 4th and/or 5th metacarpals and metatarsals and distal phalanx of the thumb). Although PHP-Ib is characterized principally by PTH resistance, some individuals also have partial TSH resistance and mild features of AHO (e.g., brachydactyly). PPHP, a more limited form of PHP-Ia, is characterized by various manifestations of the AHO phenotype without the hormone resistance or obesity. POH and OC are even more restricted variants of PPHP: POH consists of dermal ossification beginning in infancy, followed by increasing and extensive bone formation in deep muscle and fascia. OC consists of extra-skeletal ossification that is limited to the dermis and subcutaneous tissues.|GeneReviews|N|
C3494624|A smoker who smokes less than 10 cigarettes per day, or an equivalent quantity of cigar or pipe smoke.|NCI|N|
C3494625|A smoker who smokes more than 10 cigarettes per day, or an equivalent quantity of cigar or pipe smoke.|NCI|N|
C3494629|Flattest corneal meridian defined as the axis in degrees wherein power is least and radius of curvature is longest.|SNOMEDCT_US|N|
C3494630|Refractive power of the cornea at the flattest meridian defined as least power measured in diopters, and longest radius of curvature measured in mm.|SNOMEDCT_US|N|
C3494631|Steepest corneal meridian defined as the axis in degrees wherein power is greatest and radius of curvature is shortest.|SNOMEDCT_US|N|
C3494934|A rare functional disorder with recurrent episodes of torticollis posturing of the head (inclination or tilting of the head to one side) in healthy children. The prevalence is unknown and the benign nature of the disorder probably means that it is under reported. Onset occurs within the first year of life with episodes occurring between every few weeks and every few months. The duration of the torticollis varies between patients, but usually lasts from a few hours to a few days. The frequency and duration of the torticollis episodes decrease as the patient gets older and episodes usually stop completely by 5 years of age. The disorder usually occurs sporadically, but familial occurrence has been reported.|SNOMEDCT_US|N|
C3494941|A form of avascular necrosis where there is death of a portion of the bone that is thought to be caused by nitrogen embolism.|MONDO|N|
C3494954|A congenital out pouching of the bladder involving the ureteral hiatus.|NCI|N|
C3494976|A rare genetic neonatal epilepsy syndrome disease with characteristics of onset in the first 6 months of life of almost continuous migrating polymorphous focal seizures with corresponding multifocal ictal electroencephalographic discharges, progressive deterioration of psychomotor development and usually early mortality.|SNOMEDCT_US|N|
C3494988|A rare malignant mesothelioma that arises from the tunica vaginalis.|NCI|N|
C3495361|Familial gigantiform cementoma (FGC) is a rare autosomal dominant tumor that is benign but can result in disfigurement of the facial skeleton. Onset of symptoms usually occurs in adolescence, with rapid growth causing expansion of the maxilla and mandible, resulting in significant facial deformity and malocclusion. Radiologic examination defines 3 stages of the lesions: osteolytic, with well-defined radiolucent areas; cementoblastic, in which cementum is formed within the fibrous tissue, represented by radiopacities within the radiolucent zones; and mature, in which the fibrous tissue is almost completely replaced by cementum, represented by a large radioopaque area surrounded by a radiolucent space separating the tumor from normal bone. Histologic examination shows confluent sclerotic avascular cementum, with distinct areas of lamellar bone in some cases. Examination under polarized light reveals a varied birefringent pattern typical of cementum (summary by Finical et al., 1999). Affected individuals may develop osteopenia and sustain long bone fractures after minor trauma (Moshref et al., 2008; Wang et al., 2015).|OMIM|N|
C3495417|Craniofacial microsomia is a term used to describe a spectrum of abnormalities that primarily affect the development of the skull (cranium) and face before birth. Microsomia means abnormal smallness of body structures. Most people with craniofacial microsomia have differences in the size and shape of facial structures between the right and left sides of the face (facial asymmetry). In about two-thirds of cases, both sides of the face have abnormalities, which usually differ from one side to the other. Other individuals with craniofacial microsomia are affected on only one side of the face. The facial characteristics in craniofacial microsomia typically include underdevelopment of one side of the upper or lower jaw (maxillary or mandibular hypoplasia), which can cause dental problems and difficulties with feeding and speech. In cases of severe mandibular hypoplasia, breathing may also be affected.\n\nPeople with craniofacial microsomia usually have ear abnormalities affecting one or both ears, typically to different degrees. They may have growths of skin (skin tags) in front of the ear (preauricular tags), an underdeveloped or absent external ear (microtia or anotia), or a closed or absent ear canal; these abnormalities may lead to hearing loss. Eye problems are less common in craniofacial microsomia, but some affected individuals have an unusually small eyeball (microphthalmia) or other eye abnormalities that result in vision loss.\n\nAbnormalities in other parts of the body, such as malformed bones of the spine (vertebrae), abnormally shaped kidneys, and heart defects, may also occur in people with craniofacial microsomia.\n\nMany other terms have been used for craniofacial microsomia. These other names generally refer to forms of craniofacial microsomia with specific combinations of signs and symptoms, although sometimes they are used interchangeably. Hemifacial microsomia often refers to craniofacial microsomia with maxillary or mandibular hypoplasia. People with hemifacial microsomia and noncancerous (benign) growths in the eye called epibulbar dermoids may be said to have Goldenhar syndrome or oculoauricular dysplasia.|MedlinePlus Genetics|N|
C3495427|Fanconi-Bickel syndrome is a rare but well-defined clinical entity, inherited in an autosomal recessive mode and characterized by hepatorenal glycogen accumulation, proximal renal tubular dysfunction, and impaired utilization of glucose and galactose (Manz et al., 1987). Because no underlying enzymatic defect in carbohydrate metabolism had been identified and because metabolism of both glucose and galactose is impaired, a primary defect of monosaccharide transport across the membranes had been suggested (Berry et al., 1995; Fellers et al., 1967; Manz et al., 1987; Odievre, 1966).
Use of the term glycogenosis type XI introduced by Hug (1987) is to be discouraged because glycogen accumulation is not due to the proposed functional defect of phosphoglucomutase, an essential enzyme in the common degradative pathways of both glycogen and galactose, but is secondary to nonfunctional glucose transport.|OMIM|N|
C3495436|The most common form of leishmaniasis that is transmitted through the bite of female phlebotomine sand flies or after exposure to leishmania parasites. It is characterized by skin lesions at the site of insect bite which typically develop within weeks or months after exposure. The lesions typically progress from small papules to open sores with raised borders and central ulcers which can be covered with scales or crust.|NCI|N|
C3495438|Age-related macular degeneration-2 (ARMD2) is a complex disorder characterized by the accumulation of drusen in and under the retinal pigment epithelium (RPE) and the progressive atrophy of the macular RPE. These changes result in loss of photoreceptor function and vision impairment. Environmental risk factors include cigarette smoking, diet, and cholesterol level (summary by Allikmets et al., 1997).
For a general phenotypic description and a discussion of genetic heterogeneity of age-related macular degeneration, see 603075.|OMIM|N|
C3495442|Pain felt as if it were arising in an absent or amputated limb, organ or body part.|SNOMEDCT_US|N|
C3495445|Pneumonia caused by the parasite Toxoplasma gondii. It usually presents as an opportunistic infection in immunocompromised patients, especially patients with AIDS. It is rare in immunocompetent individuals. Signs and symptoms include cough, fever, and dyspnea.|NCI|N|
C3495483|A trichothiodystrophy syndrome (sulfur-deficient brittle hair), short stature, mental deficiency poor sexual maturation, and infertility originally observed in the Amish kindred. This syndrome has the main characteristics of Tay syndrome (brittle hair, impaired intelligence, decreased fertility, and short stature), except for ichthyosis. Originally observed in an Amish family (hence its name) in Indiana, the syndrome was later reported in other groups, including a Moroccan family.|JABL|N|
C3495488|Axenfeld-Rieger syndrome (ARS) is a generic term used to designate overlapping genetic disorders, in which the major physical condition is anterior segment dysgenesis of the eye. Patients with ARS may also present with multiple variable congenital anomalies.|ORDO|N|
C3495490|Acrorenal syndrome comprises a wide spectrum of congenital malformation disorders with characteristics of the co-occurrence of distal limb anomalies (usually bilateral cleft feet and/or hands) and renal defects (for example unilateral or bilateral agenesis), that can be associated with a variety of other anomalies such as those of genitourinary tract, abdominal well defects, intestinal atresia and lung malformations. Familial cases have been reported in which an autosomal recessive inheritance was suspected.|SNOMEDCT_US|N|
C3495498|Hypertrophic cardiomyopathy (HCM) is typically defined by the presence of unexplained left ventricular hypertrophy (LVH). Such LVH occurs in a non-dilated ventricle in the absence of other cardiac or systemic disease capable of producing the observed magnitude of increased LV wall thickness, such as pressure overload (e.g., long-standing hypertension, aortic stenosis) or storage/infiltrative disorders (e.g., Fabry disease, amyloidosis). The clinical manifestations of HCM range from asymptomatic LVH to progressive heart failure to sudden cardiac death (SCD), and vary from individual to individual even within the same family. Common symptoms include shortness of breath (particularly with exertion), chest pain, palpitations, orthostasis, presyncope, and syncope. Most often the LVH of HCM becomes apparent during adolescence or young adulthood, although it may also develop late in life, in infancy, or in childhood.|NCBI curation|N|
C3495537|Heterotaxy ('heter' meaning 'other' and 'taxy' meaning 'arrangement'), or situs ambiguus, is a developmental condition characterized by randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another (Srivastava, 1997). Heterotaxy is a clinically and genetically heterogeneous disorder.
For a discussion of genetic heterogeneity of visceral heterotaxy, see HTX1 (306955).|OMIM|N|
C3495538|A scoliosis with no known cause arising in a juvenile.|MONDO|N|
C3495549|abnormal persistence of an open lumen in the ductus arteriosus after birth, the direction of flow being from the aorta to the pulmonary artery, resulting in recirculation of arterial blood through the lungs.|CSP|N|
C3495551|Dihydropyrimidinase (DPD) deficiency is a very rare pyrimidine metabolism disorder with a variable clinical presentation including gastrointestinal manifestations (feeding problems, cyclic vomiting, gastroesophageal reflux, malabsorption with villous atrophy), hypotonia, intellectual deficit, seizures, and less frequently growth retardation, failure to thrive, microcephaly and autism. Asymptomatic cases are also reported. DPD deficiency increases the risk of 5-FU toxicity.|ORPHANET|N|
C3495555|A rare inborn error of metabolism characterized by low serum carnosinase activity, persistent carnosinuria, and carnosinemia. The clinical phenotype is highly variable, with some patients remaining asymptomatic, while others have been reported to show severe developmental delay, intellectual disability, hypotonia, seizures, and other neurological signs and symptoms.|ORDO|N|
C3495558|An increased concentration of carnosine in the urine.|HPO|N|
C3495559|A rare, heterogeneous group of rheumatologic diseases characterized by arthritis which has an onset before 16 years of age, persists for more than 6 weeks, and is of unknown origin.|ORDO|N|
C3495566|Chronic kidney damage due to vesicoureteral reflux.|NCI|N|
C3495587|X-linked congenital stationary night blindness (CSNB) is characterized by non-progressive retinal findings of reduced visual acuity ranging from 20/30 to 20/200; defective dark adaptation; refractive error, most typically myopia ranging from low (-0.25 diopters [D] to -4.75 D) to high (=-10.00 D) but occasionally hyperopia; nystagmus; strabismus; normal color vision; and normal fundus examination. Characteristic ERG findings can help distinguish between complete X-linked CSNB and incomplete X-linked CSNB.|GeneReviews|N|
C3495588|Acrocephalopolydactylous dysplasia, or Elejalde syndrome, is a lethal multiple congenital disorder characterized by increased birth weight, globular body with thick skin, organomegaly, and fibrosis in multiple tissues (summary by Phadke et al., 2011).|OMIM|N|
C3495589|Jalili syndrome is an autosomal recessive disorder consisting of cone-rod dystrophy and amelogenesis imperfecta. Significant visual impairment with nystagmus and photophobia is present from infancy or early childhood and progresses with age. Enamel of primary and secondary dentitions is grossly abnormal and prone to rapid posteruptive failure, in part reflecting hypomineralization (summary by Parry et al., 2009).|OMIM|N|
C3495590|Thyroglossal duct cysts are common benign cervical masses. They represent a remnant of the thyroglossal duct that fails to regress during fetal development. Nearly all cases present sporadically in young children as slowly enlarging midline neck mass (summary by Greinwald et al., 1996).|OMIM|N|
C3495591|A rare subtype of CMT1 characterized by a variable clinical presentation. Onset within the first two years of life with a delay in walking is not uncommon; however, onset may occur later. CMT1E is caused by point mutations in the <i>PMP22</i> (17p12) gene. The disease severity depends on the particular <i>PMP22</i> mutation, with some cases being very mild and even resembling hereditary neuropathy with liability to pressure palsies, while others having an earlier onset with a more severe phenotype (reminiscent of Dejerine-Sottas syndrome) than that seen in CMT1A, caused by gene duplication. These severe cases may also report deafness and much slower motor nerve conduction velocities compared to CMT1A patients.|ORDO|N|
C3495676|An abnormality of the anus or rectum.|HPO|N|
C3495679|Syndrome that has characteristics of dysmorphic features and intellectual deficit. It has been described in seven patients within one family. 17q11.2 microduplication encompasses the NF1 region. The underlying mechanism may be non-allelic homologous recombination. The study of pedigree suggests that this microduplication segregates within the family for at least two generations. Two patients displayed a normal clinical presentation, suggesting an autosomal dominant pattern of inheritance with incomplete penetrance.|SNOMEDCT_US|N|
C3495721|A melanoma that shares histopathologic and clinical features with atypical Spitz nevus.|NCI|N|
C3495772|The presence of autoantibodies (immunoglobulins) in the serum that react to gangliosides.|HPO|N|
C3495801|Granulomatosis with polyangiitis, formerly termed Wegener granulomatosis, is a systemic disease with a complex genetic background. It is characterized by necrotizing granulomatous inflammation of the upper and lower respiratory tract, glomerulonephritis, vasculitis, and the presence of antineutrophil cytoplasmatic autoantibodies (ANCAs) in patient sera. These ANCAs are antibodies to a defined target antigen, proteinase-3 (PR3, PRTN3; 177020), which is present within primary azurophil granules of neutrophils (PMNs) and lysozymes of monocytes. On cytokine priming of PMNs, PR3 translocates to the cell surface, where PR3-ANCAs can interact with their antigens and activate PMNs. PMNs from patients with active GPA express PR3 on their surface, produce respiratory burst, and release proteolytic enzymes after activation with PR3-ANCAs. The consequence is a self-sustaining inflammatory process (Jagiello et al., 2004).|OMIM|N|
C3495808|A focus of subchorial thrombus variably extending into the intervillous space, often with peripheral villous compression. The clot may be wholly or minimally laminated reflecting age.|NCI|N|
C3495846|A syndrome that occurs in a proportion of patients with HIV infection and Kaposi sarcoma after initiation of highly active antiretroviral therapy. It is characterized by a deterioration in their clinical status, despite control of virologic and immunologic parameters.|NCI|N|
C3495916|Thickening of the myocardium often due to chronic pressure overload.|NCI|N|
C3495919|A rare inflammatory rheumatic disease in a child younger than 16 years characterized by arthritis and/or enthesitis and/or acute anterior uveitis. The most commonly affected joints at diagnosis are the knees, ankles, and hips. The small joints of the feet and toes are also often involved.|ORDO|N|
C3495932|A term that refers to a vascular lesion characterized by an extracellular lipid pool with intimal smooth muscle cell loss typically adjacent to the medial wall in addition to varying degrees of macrophage infiltration near the lumen. (Arteriosclerosis, Thrombosis, and Vascular Biology. 2007; 27:986-989)|NCI|N|
C3496228|Fatty acid hydroxylase-associated neurodegeneration (FAHN) is characterized early in the disease course by central nervous system involvement including corticospinal tract involvement (spasticity), mixed movement disorder (ataxia/dystonia), and eye findings (optic atrophy, oculomotor abnormalities), and later in the disease course by progressive intellectual impairment and seizures. With disease progression, dystonia and spasticity compromise the ability to ambulate, leading to wheelchair dependence. Life expectancy is variable. FAHN is considered to be a subtype of neurodegeneration with brain iron accumulation (NBIA).|GeneReviews|N|
C3496242|An autosomal recessive condition caused by mutation(s) in the ESPN gene, encoding espin. It is characterized by profound sensorineural hearing loss.|NCI|N|
C3496283|An indication that an individual is intentionally not married and abstains from engaging in sexual activities.|NCI|N|
C3496337|A rare primary glomerular group of diseases characterized by the triad of edema, massive, or nephrotic-range, proteinuria and hypoalbuminemia, for which there is no known cause. Depending on response to treatment, disease is distinguished into steroid-sensitive nephrotic syndrome (SSNS) and steroid-resistant nephrotic syndrome (SRNS), with the latter being further divided, depending on occurrence, into familial or sporadic forms.|ORDO|N|
C3496579|A rare vascular anomaly characterized by the segmental narrowing of the abdominal and/or distal descending thoracic aorta, with varying involvement of the visceral and renal arteries, that commonly presents in children and young adults with early onset and refractory hypertension, abdominal angina, and lower-limb claudication, that can lead to life-threatening complications associated with severe hypertension (i.e. myocardial infarction, heart failure, aortic rupture, renal insufficiency and intracranial hemorrhage). It may be due to various congenital or acquired causes, but it is most often secondary to an acquired inflammatory disease (i.e. Takayasu arteritis or giant cell arteritis).|ORDO|N|
C3496580|Blockage of the lumen of the inferior vena cava.|NCI|N|
C3496610|An indication of a person''s current tobacco and nicotine consumption as well as some indication of smoking history.|NCI|N|
C3501539|A rare, X-linked syndromic intellectual disability disorder characterized by severe intellectual disability, psychomotor developmental delay, generalized seizures, and psoriasis. Mild craniofacial dysmorphism, such as hypertelorism, broad nasal bridge, anteverted nares, macrostomia, highly arched palate and large ears, is also associated. There have been no further descriptions in the literature since 1988.|ORDO|N|
C3501611|Nonspecific X-linked intellectual deficiencies (MRX) belong to the family of sex-linked intellectual deficiencies (XLMR). In contrast to syndromic or specific X-linked intellectual deficiencies (MRXS), which also present with associated physical, neurological and/or psychiatric manifestations, intellectual deficiency is the only symptom of MRX.|MONDO|N|
C3501843|A rare non-syndromic form of thyroid cancer characterized by occurrence of thyroid carcinoma (TC) as the primary feature in a familial setting.|ORDO|N|
C3501848|Nephrotic syndrome with onset within the first three months of life.|HPO|N|
C3501854|X-linked form of acute leukemia|MONDO|N|
C3501858|A limb girdle muscular dystrophy with characteristics of muscular weakness, primarily affecting the pelvic and shoulder girdles with no bulbar weakness or dysarthria.|SNOMEDCT_US|N|
C3501891|A form of mitochondrial DNA depletion syndrome that displays a broad phenotypic spectrum but that is most often characterized by hypotonia, proximal muscle weakness, facial and bulbar weakness and failure to thrive.|ORPHANET|N|
C3502054|Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.|SNOMEDCT_US|N|
C3502075|Syndrome caused by impairment of mitochondria. Whilst mitochondrial disorders may be caused by impairment of a single stage of energy production, individuals with multiple mitochondrial dysfunctions syndrome have reduced function of more than one stage. Symptoms begin in early life and affected individuals usually do not live past infancy. Symptoms include encephalopathy, hypotonia, seizures and psychomotor delay. Most affected babies have lactic acidosis that can be life threatening.|SNOMEDCT_US|N|
C3502107|Yellow coloring of skin, mucous membranes and eyes in an otherwise healthy breast-fed newborn due to insufficient intake of maternally-expressed milk. It commonly appears four to seven days after birth.|NCI|N|
C3502469|X-linked syndrome with characteristics of brain anomalies, severe intellectual disability, ectodermal dysplasia, skeletal deformities (vertebral anomalies, scoliosis, polydactyly), ear/eye anomalies (maldevelopment, small optic nerves, low set and large ears with hearing loss) and kidney dysplasia/hypoplasia (giving the acronym BRESEK syndrome). It has been described in two brothers, one of who died shortly after birth. One of the brothers also had Hirschsprung disease and Cleft palate/cryptorchidism (giving the acronym: BRESHECK syndrome). Transmission is X-linked dominant.|SNOMEDCT_US|N|
C3502492|A rare neuro-opthalmological disease characterized by severe microcephaly of prenatal onset (with diminutive anterior fontanelle and sutural ridging), growth retardation, global developmental delay and intellectual disability (ranging from mild to profound), dysmorphic features (sloping forehead, micro/retrognathia, prominent ears) and visual impairments (including microphthalmia to anophtalmia, generalized retinopathy or multiple punched-out retinal lesions, retinal folds with retinal detachment, optic nerve hypoplasia, strabismus, nystagmus). Brain MRI may show reduced cortical size, cerebral hemispheres, corpus callosum, pachygyria, symplified gyral folding or normal pattern. Other associated features include epilepsy and neurological deficits.|ORDO|N|
C3502809|SCN1A seizure disorders encompass a spectrum that ranges from simple febrile seizures and generalized epilepsy with febrile seizures plus (GEFS+) at the mild end to Dravet syndrome and intractable childhood epilepsy with generalized tonic-clonic seizures (ICE-GTC) at the severe end. Phenotypes with intractable seizures including Dravet syndrome are often associated with cognitive decline. Less commonly observed phenotypes include myoclonic astatic epilepsy (MAE), Lennox-Gastaut syndrome, infantile spasms, epilepsy with focal seizures, and vaccine-related encephalopathy and seizures. The phenotype of SCN1A seizure disorders can vary even within the same family.|GeneReviews|N|
C3508773|Ehlers-Danlos syndrome is a group of disorders that affect connective tissues supporting the skin, bones, blood vessels, and many other organs and tissues. Defects in connective tissues cause the signs and symptoms of these conditions, which range from mildly loose joints to life-threatening complications.\n\nThe various forms of Ehlers-Danlos syndrome have been classified in several different ways. Originally, 11 forms of Ehlers-Danlos syndrome were named using Roman numerals to indicate the types (type I, type II, and so on). In 1997, researchers proposed a simpler classification (the Villefranche nomenclature) that reduced the number of types to six and gave them descriptive names based on their major features. In 2017, the classification was updated to include rare forms of Ehlers-Danlos syndrome that were identified more recently. The 2017 classification describes 13 types of Ehlers-Danlos syndrome.\n\nMany people with the Ehlers-Danlos syndromes have soft, velvety skin that is highly stretchy (elastic) and fragile. Affected individuals tend to bruise easily, and some types of the condition also cause abnormal scarring. People with the classical form of Ehlers-Danlos syndrome experience wounds that split open with little bleeding and leave scars that widen over time to create characteristic "cigarette paper" scars. The dermatosparaxis type of the disorder is characterized by loose skin that sags and wrinkles, and extra (redundant) folds of skin may be present.\n\nAn unusually large range of joint movement (hypermobility) occurs in most forms of Ehlers-Danlos syndrome, and it is a hallmark feature of the hypermobile type. Infants and children with hypermobility often have weak muscle tone (hypotonia), which can delay the development of motor skills such as sitting, standing, and walking. The loose joints are unstable and prone to dislocation and chronic pain. In the arthrochalasia type of Ehlers-Danlos syndrome, infants have hypermobility and dislocations of both hips at birth.\n\nOther types of Ehlers-Danlos syndrome have additional signs and symptoms. The cardiac-valvular type causes severe problems with the valves that control the movement of blood through the heart. People with the kyphoscoliotic type experience severe curvature of the spine that worsens over time and can interfere with breathing by restricting lung expansion. A type of Ehlers-Danlos syndrome called brittle cornea syndrome is characterized by thinness of the clear covering of the eye (the cornea) and other eye abnormalities. The spondylodysplastic type features short stature and skeletal abnormalities such as abnormally curved (bowed) limbs. Abnormalities of muscles, including hypotonia and permanently bent joints (contractures), are among the characteristic signs of the musculocontractural and myopathic forms of Ehlers-Danlos syndrome. The periodontal type causes abnormalities of the teeth and gums.\n\nBleeding problems are common in the vascular type of Ehlers-Danlos syndrome and are caused by unpredictable tearing (rupture) of blood vessels and organs. These complications can lead to easy bruising, internal bleeding, a hole in the wall of the intestine (intestinal perforation), or stroke. During pregnancy, women with vascular Ehlers-Danlos syndrome may experience rupture of the uterus. Additional forms of Ehlers-Danlos syndrome that involve rupture of the blood vessels include the kyphoscoliotic, classical, and classical-like types.|MedlinePlus Genetics|N|
C3509286|A disorder of the liver secondary to the excessive consumption of ethanol that is characterized by the replacement of healthy tissue with fibrotic scar tissue and the accumulation of fluid in the peritoneal cavity.|NCI|N|
C3531745|Myelomeningocele that occurs in the region L1 to L3.|SNOMEDCT_US|N|
C3531746|Myelomeningocele that occurs in the region L4 to L5.|SNOMEDCT_US|N|
C3531771|A type of transposition of the great arteries (TGA) in which aorta is in front of and primarily to the right of the pulmonary artery. This is the most common kind of TGA.|HPO|N|
C3531782|Peripheral pulmonary stenosis is a rare congenital anomaly of the great arteries that may occur at single or multiple sites, in isolation or in association with other congenital heart defects (valvular pulmonary stenosis, atrial, or ventricular septal defects or tetralogy of Fallot) and genetic syndromes (Williams, Alagile syndrome). Clinical presentation is variable and includes heart murmurs, dyspnea, syncope, chest pain and pulmonary hypertension-associated symptoms.|ORDO|N|
C3531793|Abnormally reduced oxyhemoglobin saturation during sleep (nocturnal). Different thresholds are used in the literature, including more than 10 percent of total sleep time below a SpO2 of 90 percent.|HPO|N|
C3531930|A pregnancy involving two fetuses that share both the chorion and amniotic sac. These twins are invariably identical.|NCI|N|
C3532021|The left common carotid artery normally originates from the aortic arch. This term refers to an origin of this artery from the brachiocephalic artery.|HPO|N|
C3532025|A rare coronary artery congenital malformation characterized by an anomalous origin and course of the right coronary artery, which originates from the left aortic sinus of Valsalva and has an abnormal proximal course, which may be intramural, prepulmonic, subpulmonic, retroaortic, retrocardiac or wrapped around the apex. Patients are frequently asymptomatic, although chest pain, dyspnea, palpitations, dizziness, syncope, and sudden cardiac arrest/death (typically following intense physical exertion) may be observed. This malformation is associated with a lower risk of sudden cardiac death therefore surgical revascularization is recommended only when signs and/or symptoms of ischemia are present.|ORPHANET|N|
C3532026|A rare coronary artery congenital malformation characterized by an anomalous origin and course of the left coronary artery, which originates from the right aortic sinus of Valsalva and has an abnormal proximal course, which may be intramural, prepulmonic, subpulmonic, retroaortic, retrocardiac or wrapped around the apex. Patients are frequently asymptomatic, although chest pain, dyspnea, palpitations, dizziness, syncope, and sudden cardiac arrest/death (typically following intense physical exertion) may be observed. This malformation is associated with a high risk of sudden cardiac death so surgical revascularization is recommended even in cases with no associated evidence of myocardial ischemia.|ORPHANET|N|
C3532077|A rare coronary artery congenital malformation characterized by displacement of one of the coronary arteries, originating closer to the aortic root or to the commissural area. The anomaly is considered to be asymptomatic, however, it may impose surgical difficulties during aortic root surgery.|ORDO|N|
C3532164|Fetal pleural effusion is the accumulation of excess fluid in the layers of tissue (pleura) lining the lungs and wall of the chest. It may be primary, also termed hydrothorax, occurring as an isolated finding or it may be secondary, most commonly resulting from non-immune hydrops.|HPO|N|
C3532165|An abnormal accumulation of fluid in which the heart is partially or completely surrounded by fluid that is seen in all views and the thickness of the fluid as observed by prenatal ultrasound is above age-dependent norms.|HPO|N|
C3532166|Fetal choroid plexus cysts (CPCs) are sonographically discrete, small cysts found in the choroid plexus within the lateral cerebral ventricles of the developing fetus at 14 to 24 weeks gestation. Imaging of the choroid plexus is performed in the transverse plane of the fetal head at the same level that the lateral cerebral ventricle is evaluated. The choroid plexus should be inspected bilaterally for the presence of cysts. The size of CPCs is not of clinical relevance (PMID:16100637).|HPO|N|
C3532252|Impaction of ulnar head against the triangular fibrocartilage complex and ulnar carpus resulting in progressive degeneration of those structures.|SNOMEDCT_US|N|
C3532264|Premature closure of the arterial duct is a rare arterial duct anomaly, defined as a significant constriction or closure of the fetal arterial duct in the absence of structural heart defects with pathognomonic features of increased right ventricular afterload, tricuspid regurgitation and, consequently, right atrial dilation and right ventricular hypertrophy. The severity of symptoms is related to the degree and rate of ductal constriction and ranges from mild postnatal respiratory distress to development of ventricular failure with fetal hydrops and intrauterine death or severe cardiopulmonary compromise in the postnatal period. It may be associated with a prenatal exposure to cyclooxygenase inhibitors or corticosteroids.|ORDO|N|
C3532429|A neoplastic ductal proliferative lesion of the breast characterized by the formation of secondary lumens and prominent intraductal proliferation of a heterogeneous cellular population that may include epithelial cells, myoepithelial cells, or metaplastic apocrine cells.|NCI|N|
C3532482|An immune or non-immune mediated pathological process that represents the underlying mechanism of hypersensitivity conditions.|SNOMEDCT_US|N|
C3532483|A type of immune mediated hypersensitivity process that represents the underlying mechanism of allergic conditions.|SNOMEDCT_US|N|
C3532484|A type of allergic process that results in an immune response to a foreign antigen.|SNOMEDCT_US|N|
C3532496|An abnormal communication between the skin and the oral cavity.|NCI|N|
C3532523|The disposition to develop an allergic or pseudoallergic reaction, the reaction itself or its consequences.|SNOMEDCT_US|N|
C3532581|Undertaking cruise travel in the sufficiently recent past to be relevant to a current health issue.|SNOMEDCT_US|N|
C3532903|Attempting to persuade or coerce one''s child in ways that are not suitable or proper in the circumstances.|SNOMEDCT_US|N|
C3532933|A moderate delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts.|HPO|N|
C3532934|A mild delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts.|HPO|N|
C3532942|Mixed dementia is the co-occurrence of Alzheimer disease and cerebrovascular disease.|SNOMEDCT_US|N|
C3532946|A moderate delay in the acquisition of the ability to understand the speech of others.|HPO|N|
C3532947|A severe delay in the acquisition of the ability to understand the speech of others.|HPO|N|
C3532948|A mild delay in the acquisition of the ability to understand the speech of others.|HPO|N|
C3534585|Noroviruses are a group of related viruses. Infection with these viruses causes an illness called gastroenteritis, an inflammation of the stomach and intestines. It can spread from person to person, or through contaminated food or water. You can also get it if you touch a contaminated surface. Norovirus can be serious, especially for young children and older adults.CHAR(13) The most common symptoms of norovirus infection are:CHAR(13) 	-Diarrhea. CHAR(13) 	-Nausea and vomiting. CHAR(13) 	-Stomach pain. CHAR(13)  Other symptoms may include fever, headache or body aches.CHAR(13) Treatment includes bed rest and lots of liquids to prevent dehydration. There is no specific medicine to treat norovirus infections.CHAR(13) Proper hand washing and safe food preparation may help prevent infections.CHAR(13) Centers for Disease Control and PreventionCHAR(13)|MEDLINEPLUS|N|
C3536713|An electrocardiographic finding of pathologic Q waves with accompanying ST elevation in leads V5, V6, I and aVL, which is suggestive of acute myocardial infarction of the lateral wall of the left ventricle. (CDISC)|NCI|N|
C3536714|The presence of developmental dysplasia of the kidney.|HPO|N|
C3536715|Extracellular tissue deposition of fibrils that are composed of fragments of and/or intact serum amyloid A protein, a hepatic acute phase reactant.|HPO|N|
C3536718|An abnormal production of growth hormone.|NCI|N|
C3536734|Underdevelopment of the bony pelvis.|HPO|N|
C3536738|A congenital abnormality in the lumbar region of the spine, in which the spinal cord and meninges protrude through a defect in the spinal column. The protrusion is above the skin surface.|NCI|N|
C3536739|A congenital abnormality in the thoracic region of the spine, in which the spinal cord and meninges protrude through a defect in the spinal column. The protrusion is above the skin surface.|NCI|N|
C3536740|A congenital abnormality in the cervical region of the spine in which the spinal cord and meninges protrude through a defect in the spinal column. The protrusion is above the skin surface.|NCI|N|
C3536741|A rare congenital cardiovascular abnormality in which the aorta arises from the right ventricle and the pulmonary artery arises from the left ventricle.|NCI|N|
C3536746|An electrocardiographic finding of pathologic Q waves in leads V3 and V4, which is suggestive of myocardial infarction of the anterior wall of the left ventricle. (CDISC)|NCI|N|
C3536761|Increased white blood cell count and increased neutrophil precursors resembling leukemia in a neonate or fetus. Often, this is a response to medications received, infection or Down syndrome.|NCI|N|
C3536794|Intense or excessive feelings of unhappiness are often characterized by feeling down, low, unhappy, or sorrowful.|HPO|N|
C3536893|A spectrum of malignant tumors, affecting mostly males under age 20, characterized morphologically by the presence of small round cells. Ewing sarcoma and peripheral primitive neuroectodermal tumor represent the ends of a spectrum, with Ewing sarcoma lacking evidence of neural differentiation and the markers that characterize the peripheral primitive neuroectodermal tumor. Ewing sarcoma and peripheral primitive neuroectodermal tumor may share cytogenetic abnormalities, proto-oncogene expression, cell culture and immunohistochemical abnormalities. These tumors may occur in the soft tissues or the bones. Pain and the presence of a mass are the most common clinical symptoms.|NCI|N|
C3536983|Hypocalcemic vitamin D-resistant rickets (HVDRR) is a hereditary disorder of vitamin D action characterized by hypocalcemia, severe rickets and in many cases alopecia.|ORDO|N|
C3536991|An electrocardiographic finding of pathologic Q waves with accompanying ST elevation in leads III, aVF and often II, which is suggestive of acute myocardial infarction of the inferior wall of the left ventricle. (CDISC)|NCI|N|
C3537017|An electrocardiographic finding of an injury in leads corresponding to the anatomic region of the inferolateral wall of the heart.|NCI|N|
C3537022|Tubulin Interaction involves temporary non-covalent binding through intermolecular physical forces of attraction with highly conserved globular alpha, beta, or gamma tubulin protein subunits of microtubules.|NCI|N|
C3537055|A hair-containing cyst or sinus usually in the coccygeal region.|HPO|N|
C3537083|A finding indicating a deficiency or excess in biological absorption or assimilation of iodine.|NCI|N|
C3537085|Any process in which the tripeptide hormone prothyroliberin is released from the hypothalamus, processed and bound to receptors in the anterior pituitary, resulting in sustained release of prolactin from the anterior pituitary. Thyroliberin may be elevated in primary hypothyroidism, resulting in elevated prolactin secretion. This process is involved in regulating the levels of both prolactin and thyroid-stimulating hormone.|NCI|N|
C3537101|Enzyme Interaction involves temporary non-covalent binding, typically through intermolecular physical forces of attraction and spatial complementarity, between a molecular entity and biological molecules, usually proteins, that possess catalytic activity.|NCI|N|
C3537102|Active Transporter Interaction involves temporary non-covalent binding of a molecule through intermolecular physical forces of attraction with a protein that, after conformational change, moves a bound substrate across a cell membrane with (symport) or against (antiport) a concentration gradient resulting directly from the expenditure of energy.|NCI|N|
C3537124|Free Radical Scavenging involves interference with, or restraint of, production, by ready combination with, chemically unstable, short half-life and highly reactive molecules carrying at least one unpaired or ''free'' electron in the outermost electron shell. Appropriating electron(s) from a nearby molecule and damaging that molecule by altering the electron number in its outermost electron shell, Free Radicals produce tissue damage.|NCI|N|
C3537125|Life-threatening consequences; urgent intervention indicated.|SNOMEDCT_US|N|
C3537126|Osmotic Activity is a passive process in which water diffuses across a cell membrane in response to a concentration gradient.|NCI|N|
C3537131|The process of forming bonds, covalent, non-covalent or coordinating, between a metal atom and another compound.|NCI|N|
C3537153|An Unknown Cellular or Molecular Interaction consists of an activity or association of biologic molecules, complexes, or subcellular components that is currently undetermined.|NCI|N|
C3537167|A chromosomal abnormality consisting of the presence of a third copy of chromosome 21 in somatic cells.|NCI|N|
C3537180|An electrocardiographic finding in leads V1 or V2 of an initial R wave duration greater than or equal to 40 ms, R wave greater than S wave, upright T wave, with accompanying ST elevation, which is suggestive of acute myocardial infarction of the posterior wall of the left ventricle. Evidence of inferior or lateral myocardial infarction is usually also present. (CDISC)|NCI|N|
C3537181|An electrocardiographic finding of ST and T wave abnormalities in the absence of pathologic Q waves, which is suggestive of myocardial infarction in one or more regions of the heart. (CDISC)|NCI|N|
C3537184|An electrocardiographic finding of a myocardial infarction that does not produce elevations in the ST segment of the EKG.|NCI|N|
C3537440|A subtype of cystinosis characterized by an accumulation of cystine in the organs and tissues, particularly in the kidneys and eyes, and that clinically manifests from infancy with renal Fanconi syndrome, photophobia, hypothyroidism, impaired growth and rickets, in addition to various other systemic effects. Progressive extra-renal manifestations include hypothyroidism, hypogonadism and male infertility, insulin-dependent diabetes, hepatosplenomegaly with portal hypertension, muscle involvement with distal muscle weakness and atrophy, pharyngeal and oral dysfunction, swallowing difficulties, cerebral involvement with hypotonia, speech and walking difficulties, and cerebellar syndrome.|ORDO|N|
C3538872|A myocardial infarction that produces elevation in the ST segments of the ECG.|NCI|N|
C3538874|No change in chronic Graft versus Host Disease (cGVHD) progression during the preceding 3 months.|NCI|N|
C3538946|Pendred syndrome / nonsyndromic enlarged vestibular aqueduct (PDS/NSEVA) comprises a phenotypic spectrum of sensorineural hearing loss (SNHL) that is usually congenital and often severe to profound (although mild-to-moderate progressive hearing impairment also occurs), vestibular dysfunction, and temporal bone abnormalities (bilateral enlarged vestibular aqueduct with or without cochlear hypoplasia). PDS also includes development of euthyroid goiter in late childhood to early adulthood whereas NSEVA does not.|GeneReviews|N|
C3538993|The disappearance of all signs of cancer in response to treatment accompanied by incomplete bone marrow recovery, as evidenced by persistent anemia, thrombocytopenia or neutropenia.|NCI|N|
C3538999|A rare genetic isolated dystonia with characteristics of adult-onset non-progressive focal cervical dystonia typically manifesting with torticollis and occasionally accompanied by mild head tremor and essential-type limb tremor.|SNOMEDCT_US|N|
C3539003|Hereditary sensory and autonomic neuropathy type VI (HSAN6) is a severe autosomal recessive disorder characterized by neonatal hypotonia, respiratory and feeding difficulties, lack of psychomotor development, and autonomic abnormalities including labile cardiovascular function, lack of corneal reflexes leading to corneal scarring, areflexia, and absent axonal flare response after intradermal histamine injection (summary by Edvardson et al., 2012).
For a discussion of genetic heterogeneity of hereditary sensory and autonomic neuropathy, see HSAN1 (162400).|OMIM|N|
C3539013|Most characteristically, Aicardi-Goutières syndrome (AGS) manifests as an early-onset encephalopathy that usually, but not always, results in severe intellectual and physical disability. A subgroup of infants with AGS present at birth with abnormal neurologic findings, hepatosplenomegaly, elevated liver enzymes, and thrombocytopenia, a picture highly suggestive of congenital infection. Otherwise, most affected infants present at variable times after the first few weeks of life, frequently after a period of apparently normal development. Typically, they demonstrate the subacute onset of a severe encephalopathy characterized by extreme irritability, intermittent sterile pyrexias, loss of skills, and slowing of head growth. Over time, as many as 40% develop chilblain skin lesions on the fingers, toes, and ears. It is becoming apparent that atypical, sometimes milder, cases of AGS exist, and thus the true extent of the phenotype associated with pathogenic variants in the AGS-related genes is not yet known.|GeneReviews|N|
C3539071|Nephronophthisis is a disorder that affects the kidneys. It is characterized by inflammation and scarring (fibrosis) that impairs kidney function. These abnormalities lead to increased urine production (polyuria), excessive thirst (polydipsia), general weakness, and extreme tiredness (fatigue). In addition, affected individuals develop fluid-filled cysts in the kidneys, usually in an area known as the corticomedullary region. Another feature of nephronophthisis is a shortage of red blood cells, a condition known as anemia.\n\nNephronophthisis can occur as part of separate syndromes that affect other areas of the body; these are often referred to as nephronophthisis-associated ciliopathies. For example, Senior-Løken syndrome is characterized by the combination of nephronophthisis and a breakdown of the light-sensitive tissue at the back of the eye (retinal degeneration); Joubert syndrome affects many parts of the body, causing neurological problems and other features, which can include nephronophthisis.\n\nNephronophthisis eventually leads to end-stage renal disease (ESRD), a life-threatening failure of kidney function that occurs when the kidneys are no longer able to filter fluids and waste products from the body effectively. Nephronophthisis can be classified by the approximate age at which ESRD begins: around age 1 (infantile), around age 13 (juvenile), and around age 19 (adolescent).\n\nAbout 85 percent of all cases of nephronophthisis are isolated, which means they occur without other signs and symptoms. Some people with nephronophthisis have additional features, which can include liver fibrosis, heart abnormalities, or mirror image reversal of the position of one or more organs inside the body (situs inversus).|MedlinePlus Genetics|N|
C3539120|Prostate cancer is a common disease that affects men, usually in middle age or later. In this disorder, certain cells in the prostate become abnormal, multiply without control or order, and form a tumor. The prostate is a gland that surrounds the male urethra and helps produce semen, the fluid that carries sperm.\n\nEarly prostate cancer usually does not cause pain, and most affected men exhibit no noticeable symptoms. Men are often diagnosed as the result of health screenings, such as a blood test for a substance called prostate specific antigen (PSA) or a medical exam called a digital rectal exam (DRE). As the tumor grows larger, signs and symptoms can include difficulty starting or stopping the flow of urine, a feeling of not being able to empty the bladder completely, blood in the urine or semen, or pain with ejaculation. However, these changes can also occur with many other genitourinary conditions. Having one or more of these symptoms does not necessarily mean that a man has prostate cancer.\n\nThe severity and outcome of prostate cancer varies widely. Early-stage prostate cancer can usually be treated successfully, and some older men have prostate tumors that grow so slowly that they may never cause health problems during their lifetime, even without treatment. In other men, however, the cancer is much more aggressive; in these cases, prostate cancer can be life-threatening.\n\nSome cancerous tumors can invade surrounding tissue and spread to other parts of the body. Tumors that begin at one site and then spread to other areas of the body are called metastatic cancers. The signs and symptoms of metastatic cancer depend on where the disease has spread. If prostate cancer spreads, cancerous cells most often appear in the lymph nodes, bones, lungs, liver, or brain. \n\nA small percentage of prostate cancers are hereditary and occur in families. These hereditary cancers are associated with inherited gene variants. Hereditary prostate cancers tend to develop earlier in life than non-inherited (sporadic) cases.|MedlinePlus Genetics|N|
C3539123|Neuronal ceroid lipofuscinosis-11 is an autosomal recessive neurologic disorder characterized by rapidly progressive visual loss due to retinal dystrophy, seizures, cerebellar ataxia, and cerebellar atrophy. Cognitive decline may also occur (summary by Smith et al., 2012).
For a general phenotypic description and a discussion of genetic heterogeneity of CLN, see CLN1 (256730).|OMIM|N|
C3539124|Usher syndrome type I (USH1) is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa (RP). Unless fitted with a cochlear implant, individuals do not typically develop speech. RP, a progressive, bilateral, symmetric degeneration of rod and cone functions of the retina, develops in adolescence, resulting in progressively constricted visual fields and impaired visual acuity.|GeneReviews|N|
C3539195|Any essential tremor in which the cause of the disease is a mutation in the FUS gene.|MONDO|N|
C3539494|SPG53 is an autosomal recessive neurologic disorder characterized by onset in infancy of delayed motor development progressing to upper and lower limb spasticity with impaired walking. Affected individuals also show mild to moderate cognitive impairment (summary by Zivony-Elboum et al., 2012).|OMIM|N|
C3539495|Spastic paraplegia-54 (SPG54) is a complicated form of spastic paraplegia, a neurodegenerative disorder affecting fibers of the corticospinal tract. Affected individuals have delayed psychomotor development, intellectual disability, and early-onset spasticity of the lower limbs. Brain MRI shows a thin corpus callosum and periventricular white matter lesions. Brain magnetic resonance spectroscopy shows an abnormal lipid peak (summary by Schuurs-Hoeijmakers et al., 2012).
For a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive spastic paraplegia, see 270800.|OMIM|N|
C3539506|A rare complex type of hereditary spastic paraplegia with characteristics of childhood onset of progressive spastic paraplegia associated with optic atrophy (with reduced visual acuity and central scotoma), ophthalmoplegia, reduced upper-extremity strength and dexterity, muscular atrophy in the lower extremities and sensorimotor neuropathy. Caused by mutations in the C12ORF65 gene (12q24.31) encoding probable peptide chain release factor C12ORF65, mitochondrial.|SNOMEDCT_US|N|
C3539507|Spastic paraplegia-56 with or without pseudoxanthoma elasticum (SPG56) is an autosomal recessive neurodegenerative disorder characterized by early-onset progressive lower-limb spasticity resulting in walking difficulties. Upper limbs are often also affected, and some patients may have a subclinical axonal neuropathy (summary by Tesson et al., 2012). Some patients also have pseudoxanthoma elasticum (Legrand et al., 2021).
For a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive spastic paraplegia, see 270800.|OMIM|N|
C3539781|Failure of therapy to control chronic Graft versus Host Disease (cGVHD).|NCI|N|
C3539878|The absence of staining for estrogen receptor, progesterone receptor, and hormone epidermal growth factor receptor 2 (HER2/neu).|SNOMEDCT_US|N|
C3539888|Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of disorders of keratinization characterized primarily by abnormal skin scaling over the whole body. These disorders are limited to skin, with approximately two-thirds of patients presenting severe symptoms. The main skin phenotypes are lamellar ichthyosis (LI) and nonbullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur (summary by Fischer, 2009). Neither histopathologic findings nor ultrastructural features clearly distinguish between NCIE and LI. In addition, mutations in several genes have been shown to cause both lamellar and nonbullous ichthyosiform erythrodermal phenotypes (Akiyama et al., 2003). At the First Ichthyosis Consensus Conference in Soreze in 2009, the term 'autosomal recessive congenital ichthyosis' (ARCI) was designated to encompass LI, NCIE, and harlequin ichthyosis (ARCI4B; 242500) (Oji et al., 2010).
NCIE is characterized by prominent erythroderma and fine white, superficial, semiadherent scales. Most patients present with collodion membrane at birth and have palmoplantar keratoderma, often with painful fissures, digital contractures, and loss of pulp volume. In half of the cases, a nail dystrophy including ridging, subungual hyperkeratosis, or hypoplasia has been described. Ectropion, eclabium, scalp involvement, and loss of eyebrows and lashes seem to be more frequent in NCIE than in lamellar ichthyosis (summary by Fischer et al., 2000). In LI, the scales are large, adherent, dark, and pigmented with no skin erythema. Overlapping phenotypes may depend on the age of the patient and the region of the body. The terminal differentiation of the epidermis is perturbed in both forms, leading to a reduced barrier function and defects of lipid composition in the stratum corneum (summary by Lefevre et al., 2006).
In later life, the skin in ARCI may have scales that cover the entire body surface, including the flexural folds, and the scales are highly variable in size and color. Erythema may be very mild and almost invisible. Some affected persons exhibit scarring alopecia, and many have secondary anhidrosis (summary by Eckl et al., 2005).
For a discussion of genetic heterogeneity of autosomal recessive congenital ichthyosis, see ARCI1 (242300).|OMIM|N|
C3539909|A propensity to developing a pathological immune process generally directed towards a foreign antigen, which results in tissue injury. It is most often applied to type I hypersensitivity but other hypersensitivity types especially type IV (e.g. allergic contact dermatitis) may be involved. Revised nomenclature for allergy for global use:Report of the Nomenclature Review Committee of the World Allergy Organization, October 2003.|SNOMEDCT_US|N|
C3539916|Familial myoclonus-1 is an autosomal dominant neurologic condition characterized by adult onset of cortical myoclonus manifest as involuntary jerks or movements affecting the face and limbs. Affected individuals can also experience falls without seizure activity or loss of consciousness (summary by Russell et al., 2012).
Genetic Heterogeneity of Familial Myoclonus
Also see MYOCL2 (618364), caused by mutation in the SCN8A gene (600702) on chromosome 12q13.|OMIM|N|
C3539920|Hypohidrotic ectodermal dysplasia (HED) is characterized by hypotrichosis (sparseness of scalp and body hair), hypohidrosis (reduced ability to sweat), and hypodontia (congenital absence of teeth). The cardinal features of classic HED become obvious during childhood. The scalp hair is thin, lightly pigmented, and slow growing. Sweating, although present, is greatly deficient, leading to episodes of hyperthermia until the affected individual or family acquires experience with environmental modifications to control temperature. Only a few abnormally formed teeth erupt, at a later-than-average age. Physical growth and psychomotor development are otherwise within normal limits. Mild HED is characterized by mild manifestations of any or all the characteristic features.|GeneReviews|N|
C3540450|Isolated gonadotropin-releasing hormone (GnRH) deficiency (IGD) is characterized by inappropriately low serum concentrations of the gonadotropins LH (luteinizing hormone) and FSH (follicle-stimulating hormone) in the presence of low circulating concentrations of sex steroids. IGD is associated with a normal sense of smell (normosmic IGD) in approximately 40% of affected individuals and an impaired sense of smell (Kallmann syndrome) in approximately 60%. IGD can first become apparent in infancy, adolescence, or adulthood. Infant boys with congenital IGD often have micropenis and cryptorchidism. Adolescents and adults with IGD have clinical evidence of hypogonadism and incomplete sexual maturation on physical examination. Adult males with IGD tend to have prepubertal testicular volume (i.e., <4 mL), absence of secondary sexual features (e.g., facial and axillary hair growth, deepening of the voice), decreased muscle mass, diminished libido, erectile dysfunction, and infertility. Adult females have little or no breast development and primary amenorrhea. Although skeletal maturation is delayed, the rate of linear growth is usually normal except for the absence of a distinct pubertal growth spurt.|GeneReviews|N|
C3540453|Charcot-Marie-Tooth disease type 4F is an autosomal recessive demyelinating neuropathy characterized by distal sensory impairment and distal muscle weakness and atrophy affecting the lower more than the upper limbs. Nerve conduction velocities are decreased and sural nerve biopsy shows loss of myelinated fibers. The age at onset is variable and can range from childhood to adult years. When the onset is in infancy, the phenotype is characterized as Dejerine-Sottas syndrome (DSS; 145900).
For a phenotypic description and a discussion of genetic heterogeneity of autosomal recessive demyelinating Charcot-Marie-Tooth disease, see CMT4A (214400).|OMIM|N|
C3540535|A deletion of 268 amino acids of the epidermal growth factor receptor protein from the valine at position 30 through the arginine at position 297 followed by the insertion of a glycine between the lysine at position 29 and the asparagine at position 298.|NCI|N|
C3540542|A worsening of chronic Graft versus Host Disease (cGVHD) manifestations during withdrawal of immunosuppressive therapy which does not exceed those at the beginning of the trial and improves after reinstatement of previous treatment.|NCI|N|
C3540598|A qualification that describes the degree of certainty of the correctness of a microbial identification test result.|NCI|N|
C3540764|A notch or cleft of the retina.|HPO|N|
C3540828|A benign or malignant neoplasm which is not further characterized.|NCI|N|
C3540839|A constellation of neurobehavioral features observed following cessation or reduction of antenatal or postnatal drug exposure.|NCI|N|
C3540840|Objective evidence of disease perceptible to the examining practitioner (sign) and subjective evidence of disease perceived by the patient (symptom).|NCI|N|
C3540844|CILD20 is an autosomal recessive ciliopathy characterized by infantile onset of chronic sinopulmonary infections resulting from immotile cilia and defective clearance. Patients may also have situs inversus or cardiac anomalies. Electron microscopy of respiratory epithelial cells shows absence of the outer dynein arms. Unlike other forms of CILD, patients with CILD20 do not appear to be infertile.
For a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see 244400.|OMIM|N|
C3540850|Mutations in the CRYGD gene have been found to cause multiple types of cataract, which have been described as aculeiform, crystalline aculeiform, crystalline, crystal, frosted, needle-shaped, fasciculiform, congenital cerulean, nonnuclear polymorphic congenital, central nuclear, lamellar, and punctate. Some patients also exhibit microcornea.
Because multiple types of cataract are caused by mutation in the CRYGD gene, some of which display intrafamilial variability, several earlier distinct cataract entries in OMIM have been included here.|OMIM|N|
C3540852|A rare hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia, and diminished growth.|ORPHANET|N|
C3541293|Any condition resulting in systemically elevated blood pressure that is attributed to an arterial source.|NCI|N|
C3541319|Among the Yakuts, an Asian population isolate that is located in the northeastern part of Siberia, Maksimova et al. (2010) ascertained an autosomal recessive short stature syndrome involving postnatal growth failure, small hands and feet, loss of visual acuity with abnormalities of color vision, abnormal nuclear shape in neutrophil granulocytes (Pelger-Huet anomaly; see 169400), and normal intelligence.|OMIM|N|
C3541340|Pontine tegmental cap dysplasia (PTCD) refers to a neurologic condition characterized by a distinct pattern of hindbrain malformations apparent on brain imaging. The abnormalities affect the pons, medulla, and cerebellum. In neuroradiologic studies, the ventral side of the pons is flattened, whereas there is vaulting ('capping') of the dorsal pontine border into the fourth ventricle. Affected individuals show a variety of neurologic deficits, most commonly sensorineural deafness, impaired cranial nerve function, and variable psychomotor retardation (summary by Barth et al., 2007).|OMIM|N|
C3541456|X-linked spondyloepiphyseal dysplasia tarda is a condition that impairs bone growth and occurs almost exclusively in  males. The name of the condition indicates that it affects the bones of the spine (spondylo-) and the ends of long bones (epiphyses) in the arms and legs. "Tarda" indicates that signs and symptoms of this condition are not present at birth, but appear later in childhood, typically between ages 6 and 10.\n\nMales with X-linked spondyloepiphyseal dysplasia tarda have skeletal abnormalities and short stature. Affected boys grow steadily until late childhood, when their growth slows. Their adult height ranges from 4 feet 6 inches (137 cm) to 5 feet 4 inches (163 cm). Impaired growth of the spinal bones (vertebrae) primarily causes the short stature. Spinal abnormalities include flattened vertebrae (platyspondyly) with hump-shaped bulges, progressive thinning of the discs between vertebrae, and an abnormal curvature of the spine (scoliosis or kyphosis). These spinal problems also cause back pain in people with this condition. Individuals with X-linked spondyloepiphyseal dysplasia tarda have a short torso and neck, and their arms are disproportionately long compared to their height.\n\nOther skeletal features of X-linked spondyloepiphyseal dysplasia tarda include an abnormality of the hip joint that causes the upper leg bones to turn inward (coxa vara); multiple abnormalities of the epiphyses, including a short upper end of the thigh bone (femoral neck); and a broad, barrel-shaped chest. A painful joint condition called osteoarthritis that typically occurs in older adults often develops in early adulthood in people with X-linked spondyloepiphyseal dysplasia tarda and worsens over time, most often affecting the hips, knees, and shoulders.|MedlinePlus Genetics|N|
C3541462|Isolated gonadotropin-releasing hormone (GnRH) deficiency (IGD) is characterized by inappropriately low serum concentrations of the gonadotropins LH (luteinizing hormone) and FSH (follicle-stimulating hormone) in the presence of low circulating concentrations of sex steroids. IGD is associated with a normal sense of smell (normosmic IGD) in approximately 40% of affected individuals and an impaired sense of smell (Kallmann syndrome) in approximately 60%. IGD can first become apparent in infancy, adolescence, or adulthood. Infant boys with congenital IGD often have micropenis and cryptorchidism. Adolescents and adults with IGD have clinical evidence of hypogonadism and incomplete sexual maturation on physical examination. Adult males with IGD tend to have prepubertal testicular volume (i.e., <4 mL), absence of secondary sexual features (e.g., facial and axillary hair growth, deepening of the voice), decreased muscle mass, diminished libido, erectile dysfunction, and infertility. Adult females have little or no breast development and primary amenorrhea. Although skeletal maturation is delayed, the rate of linear growth is usually normal except for the absence of a distinct pubertal growth spurt.|GeneReviews|N|
C3541471|Autosomal recessive mitochondrial complex III deficiency is a severe multisystem disorder with onset at birth of lactic acidosis, hypotonia, hypoglycemia, failure to thrive, encephalopathy, and delayed psychomotor development. Visceral involvement, including hepatopathy and renal tubulopathy, may also occur. Many patients die in early childhood, but some may show longer survival (de Lonlay et al., 2001; De Meirleir et al., 2003).
Genetic Heterogeneity of Mitochondrial Complex III Deficiency
Mitochondrial complex III deficiency can be caused by mutation in several different nuclear-encoded genes. See MC3DN2 (615157), caused by mutation in the TTC19 gene (613814) on chromosome 17p12; MC3DN3 (615158), caused by mutation in the UQCRB gene (191330) on chromosome 8q; MC3DN4 (615159), caused by mutation in the UQCRQ gene (612080) on chromosome 5q31; MC3DN5 (615160), caused by mutation in the UQCRC2 gene (191329) on chromosome 16p12; MC3DN6 (615453), caused by mutation in the CYC1 gene (123980) on chromosome 8q24; MC3DN7 (615824), caused by mutation in the UQCC2 gene (614461) on chromosome 6p21; MC3DN8 (615838), caused by mutation in the LYRM7 gene (615831) on chromosome 5q23; MC3DN9 (616111), caused by mutation in the UQCC3 gene (616097) on chromosome 11q12; and MC3DN10 (618775), caused by mutation in the UQCRFS1 gene (191327) on chromosome 19q12.
See also MTYCB (516020) for a discussion of a milder phenotype associated with isolated mitochondrial complex III deficiency and mutations in a mitochondrial-encoded gene.|OMIM|N|
C3541474|The spectrum of ADAMTSL4-related eye disorders is a continuum that includes the phenotypes known as "autosomal recessive isolated ectopia lentis" and "ectopia lentis et pupillae" as well as more minor eye anomalies with no displacement of the pupil and very mild displacement of the lens. Typical eye findings are dislocation of the lens, congenital abnormalities of the iris, refractive errors that may lead to amblyopia, and early-onset cataract. Increased intraocular pressure and retinal detachment may occur on occasion. Eye findings can vary within a family and between the eyes in an individual. In general, no additional systemic manifestations are observed, although skeletal features have been reported in a few affected individuals.|GeneReviews|N|
C3541476|Congenital myopathy-10B (CMYP10B) is an autosomal recessive skeletal muscle disorder characterized by infantile- or childhood-onset myopathy, areflexia, dysphagia, and respiratory distress that usually requires nocturnal ventilation. Other common features include facial and neck muscle weakness, feeding difficulties, contractures, scoliosis, high-arched palate, hyporeflexia, and difficulties walking. The disorder is slowly progressive and most patients follow a chronic course. Muscle biopsy shows variable findings, including type 1 fiber predominance, minicore lesions, and myofibrillar disorganization (Boyden et al., 2012; Harris et al., 2018).
Patients with missense mutations affecting conserved cysteine residues in the EGF-like domain show the mild variant phenotype (CMYP10B) with later onset of respiratory failure and minicores on muscle biopsy, whereas patients with more damaging mutations, including nonsense or frameshift null mutations, show the severe variant phenotype (CMYP10A) (Croci et al., 2022).
For a discussion of genetic heterogeneity of congenital myopathy, see CMYP1A (117000).|OMIM|N|
C3541518|Ectopia lentis is defined as an abnormal stretching of the zonular fibers that leads to lens dislocation, resulting in acute or chronic visual impairment (Greene et al., 2010).
Citing the revised Ghent criteria for Marfan syndrome, Loeys et al. (2010) proposed the designation 'ectopia lentis syndrome' (ELS) for patients with ectopia lentis and a mutation in the FBN1 gene who lack aortic involvement, to highlight the systemic nature of the condition and to emphasize the need for assessment of features outside the ocular system (see DIAGNOSIS).
Genetic Heterogeneity of Isolated Ectopia Lentis
An autosomal recessive form of isolated ectopia lentis (ECTOL2; 225100) is caused by mutation in the ADAMTSL4 gene (610113).|OMIM|N|
C3541853|The nephronophthisis (NPH) phenotype is characterized by reduced renal concentrating ability, chronic tubulointerstitial nephritis, cystic renal disease, and progression to end-stage renal disease (ESRD) before age 30 years. Three age-based clinical subtypes are recognized: infantile, juvenile, and adolescent/adult. Infantile NPH can present in utero with oligohydramnios sequence (limb contractures, pulmonary hypoplasia, and facial dysmorphisms) or postnatally with renal manifestations that progress to ESRD before age 3 years. Juvenile NPH, the most prevalent subtype, typically presents with polydipsia and polyuria, growth retardation, chronic iron-resistant anemia, or other findings related to chronic kidney disease (CKD). Hypertension is typically absent due to salt wasting. ESRD develops at a median age of 13 years. Ultrasound findings are increased echogenicity, reduced corticomedullary differentiation, and renal cysts (in 50% of affected individuals). Histologic findings include tubulointerstitial fibrosis, thickened and disrupted tubular basement membrane, sporadic corticomedullary cysts, and normal or reduced kidney size. Adolescent/adult NPH is clinically similar to juvenile NPH, but ESRD develops at a median age of 19 years. Within a subtype, inter- and intrafamilial variability in rate of progression to ESRD is considerable. Approximately 80%-90% of individuals with the NPH phenotype have no extrarenal features (i.e., they have isolated NPH); ~10%-20% have extrarenal manifestations that constitute a recognizable syndrome (e.g., Joubert syndrome, Bardet-Biedl syndrome, Jeune syndrome and related skeletal disorders, Meckel-Gruber syndrome, Senior-Løken syndrome, Leber congenital amaurosis, COACH syndrome, and oculomotor apraxia, Cogan type).|GeneReviews|N|
C3541877|An electrocardiographic finding suggestive of dextrocardia with situs inversus, characterized by reversal of normal anterior R wave progression and the appearance of reversal of the right and left arm electrodes. (CDISC)|NCI|N|
C3541890|The lead has been removed from the body.|NCI|N|
C3541950|An electrocardiographic finding showing a current of injury with ST elevation. No specification is provided for localization. (CDISC)|NCI|N|
C3541994|A drug hypersensitivity reaction with a relatively long latency period after exposure characterised by rash, fever, lymphadenopathy, haematologic abnormalities including eosinophilia and atypical lymphocytosis and internal organ involvement. Clinical presentation is highly variable. Eosinophilia is present in 50-90% of cases.|SNOMEDCT_US|N|
C3542021|A group of rare, genetic, progressive muscular dystrophies, including Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD) and a symptomatic form in female carriers. The diseases represent a spectrum of severity ranging from progressive skeletal and cardiac muscle wasting and weakness (DMD, BMD) to less severe muscle weakness or isolated cardiomyopathy affecting carrier females.|ORDO|N|
C3542022|SOFT syndrome is characterized by severely short long bones, peculiar facies associated with paucity of hair, and nail anomalies. Growth retardation is evident on prenatal ultrasound as early as the second trimester of pregnancy, and affected individuals reach a final stature consistent with a height age of 6 years to 8 years. Relative macrocephaly is present during early childhood but head circumference is markedly low by adulthood. Psychomotor development is normal. Facial dysmorphism includes a long, triangular face with prominent nose and small ears, and affected individuals have an unusual high-pitched voice. Clinodactyly, brachydactyly, and hypoplastic distal phalanges and fingernails are present in association with postpubertal sparse and short hair. Typical skeletal findings include short and thick long bones with mild irregular metaphyseal changes, short femoral necks, and hypoplastic pelvis and sacrum. All long bones of the hand are short, with major delay of carpal ossification and cone-shaped epiphyses. Vertebral body ossification is also delayed (summary by Sarig et al., 2012).|OMIM|N|
C3542024|Any aortic valve disease in which the cause of the disease is a mutation in the SMAD6 gene.|MONDO|N|
C3542026|The overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) represent the milder manifestations of the Zellweger syndrome spectrum (ZSS) of peroxisome biogenesis disorders. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy, and visual impairment. Children with the NALD presentation may reach their teens, and those with the IRD presentation may reach adulthood (summary by Waterham and Ebberink, 2012).
For a complete phenotypic description and a discussion of genetic heterogeneity of PBD(NALD/IRD), see 601539.
Individuals with mutations in the PEX2 gene have cells of complementation group 5 (CG5, equivalent to CG10 and CGF). For information on the history of PBD complementation groups, see 214100.|OMIM|N|
C3542426|An electrocardiographic finding of pathologic Q waves in leads III, aVF and often II, which is suggestive of myocardial infarction of the inferior wall of the left ventricle. (CDISC)|NCI|N|
C3542449|The determination of whether the microbe or lesion is resistant to drugs normally used in treatment.|NCI|N|
C3542501|An acute inflammatory process affecting the peripheral nervous system and nerve roots. It results in demyelination. It is often caused by an acute viral or bacterial infection.|NCI|N|
C3542549|TECPR2-related hereditary sensory and autonomic neuropathy with intellectual disability (TECPR2-HSAN with ID) is characterized by developmental delay and subsequent intellectual disability, behavioral abnormalities, neurologic manifestations (muscular hypotonia, sensory neuropathy with lower-limb hypo- or areflexia and ataxic gait), and autonomic dysfunction (including central hypoventilation and apnea, gastrointestinal dysmotility, dysphagia, and gastroesophageal reflux disease with recurrent aspiration). To date, more than 30 individuals with TECPR2-HSAN with ID have been identified.|GeneReviews|N|
C3542550|Primary ciliary dyskinesia-17 is an autosomal recessive disorder characterized by early infantile onset of respiratory distress associated with a defect in the function of ciliary outer dynein arms. Situs inversus is variable (summary by Panizzi et al., 2012).
For a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400).|OMIM|N|
C3543413|A benign epithelial neoplasm arising from primary epithelial germ cells of the piliary complex.|NCI|N|
C3543825|Primary ciliary dyskinesia-18 is an autosomal recessive disorder characterized by early infantile onset of recurrent sinopulmonary infections due to ciliary dysfunction and impaired airway clearance. Males are infertile and about half of patients have situs inversus. Electron microscopy of cilia shows a defect of the outer and inner dynein arms and impaired ciliary function (summary by Horani et al., 2012).|OMIM|N|
C3543826|Primary ciliary dyskinesia-19 (CILD19) is an autosomal recessive ciliopathy characterized by chronic sinopulmonary infections, asthenospermia, and immotile cilia. Respiratory epithelial cells and sperm flagella of affected individuals lack both the inner and outer dynein arms. About 50% of patients have situs inversus (summary by Kott et al., 2012).
For a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see 244400.|OMIM|N|
C3544078|A well-differentiated neuroendocrine neoplasm that arises from the breast. It may be classified as G1 (low grade) or G2 (intermediate grade) neuroendocrine tumor.|NCI|N|
C3544104|Exposure of pregnant women to toxins from any source, such as environmental toxins or chemicals, that may potentially cause problems such as miscarriage, preterm delivery, low birth weight, and, in some cases, developmental delays in infants.|HPO|N|
C3544214|Syndrome is characterised by severe headaches, with or without other acute neurological symptoms, and diffuse segmental constriction of cerebral arteries that resolves spontaneously within 3 months.|SNOMEDCT_US|N|
C3544255|A finding of plasma cell myeloma that is not growing and responds to treatment.|NCI|N|
C3544265|The reemergence of intrahepatic cholangiocarcinoma after a period of remission.|NCI|N|
C3544321|Schizophrenia which does not respond to commonly used treatments.|MONDO|N|
C3544346|An error associated with the use of a medical device, due to problems with the design of the device or the manner in which the device is used, that causes or leads to inappropriate device use or patient harm.|NCI|N|
C3547187|Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a metformin stimulus. [GOC:TermGenie]|GO|N|
C3547403|Tacrolimus is an immunosuppressive agent administered to transplant recipients to prevent and treat allograft rejection. Clinical use of tacrolimus is complicated by a narrow therapeutic index and high inter-patient pharmacokinetic variability, partly due to variations within the CYP3A5 gene. Patients who are CYP3A5 extensive or intermediate metabolizers may require increased starting doses of tacrolimus. Adjustment of dose based on CYP3A5 phenotype may allow for a more rapid achievement of therapeutic drug concentrations. This particular dosing recommendation is unusual in that it is those with the extensive metabolizer phenotype (typically referred to as the "normal" metabolizer phenotype) who may require a dosage modification (here, an increase in normal starting dose), while those with the poor metabolizer phenotype often do not require a change to the starting dose. This is because, in the case of CYP3A5, extensive metabolizers are actually the minority in most worldwide populations (excluding those of African descent), while those with the poor metabolizer phenotype are the majority. Therapeutic guidelines for tacrolimus based on CYP3A5 genotype have been published in Clinical Pharmacology and Therapeutics by the Clinical Pharmacogenetics Implementation Consortium (CPIC) and are available on the PharmGKB website.|PharmGKB|N|
C3549252|Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a statin stimulus. Statins are organooxygen compounds whose structure is related to compactin (mevastatin) and which may be used as an anticholesteremic drug due its EC:1.1.1.34/EC:1.1.1.88 (hydroxymethylglutaryl-CoA reductase) inhibitory properties. [GOC:hp]|GO|N|
C3549447|Alternating hemiplegia of childhood is a rare syndrome of episodic hemi- or quadriplegia lasting minutes to days. Most cases are accompanied by dystonic posturing, choreoathetoid movements, nystagmus, other ocular motor abnormalities, autonomic disturbances, and progressive cognitive impairment (Mikati et al., 1992).
The disorder may mimic or overlap with other disorders, including familial hemiplegic migraine (FHM1; 141500) and GLUT1 deficiency syndrome (606777) (Rotstein et al., 2009).
Genetic Heterogeneity of Alternating Hemiplegia of Childhood
See also AHC2 (614820), caused by mutation in the ATP1A3 gene (182350).|OMIM|N|
C3549684|Since the initial discovery of the human electroencephalogram (EEG) by Berger (1929), it has been speculated that neural oscillations play a broad role in nervous systems and form the basis for higher cognitive functions and consciousness. The presence of a beta/gamma oscillation (18 to 50 Hz) is thought to represent an activated state of the underlying neuronal network. These beta (12-29 Hz) and gamma (30-50 Hz) brain rhythms involve gamma-aminobutyric acid type A (GABA-A) receptor action (Haenschel et al., 2000; summary by Porjesz et al., 2002).|OMIM|N|
C3549703|Reduced anteroposterior thickness of the retina. This phenotype can be appreciated by retinal optical coherence tomography (OCT).|HPO|N|
C3549845|Intrahepatic cholestasis of pregnancy is a reversible form of cholestasis that occurs most often in the third trimester of pregnancy and recurs in 45 to 70% of subsequent pregnancies. Symptoms include pruritus, jaundice, increased serum bile salts, and abnormal liver enzymes, all of which resolve rapidly after delivery. However, the condition is associated with fetal complications, including placental insufficiency, premature labor, fetal distress, and intrauterine death. Some women with ICP may also be susceptible to oral contraceptive-induced cholestasis (OCIC) (summary by Pasmant et al., 2012).
Genetic Heterogeneity of Intrahepatic Cholestasis of Pregnancy
See also ICP3 (614972), caused by mutation in the ABCB4 gene (171060).|OMIM|N|
C3549874|Metaphyseal dysplasia and maxillary hypoplasia with or without brachydactyly (MDMHB) is an autosomal dominant bone dysplasia characterized by metaphyseal flaring of long bones, enlargement of the medial halves of the clavicles, maxillary hypoplasia, variable brachydactyly, and dystrophic teeth (summary by Moffatt et al., 2013).|OMIM|N|
C3550150|Repeated episodes of inflammation of a vein associated with venous thrombosis (blood clot formation within the vein).|HPO|N|
C3550234|Zellweger spectrum disorder (ZSD) is a phenotypic continuum ranging from severe to mild. While individual phenotypes (e.g., Zellweger syndrome [ZS], neonatal adrenoleukodystrophy [NALD], and infantile Refsum disease [IRD]) were described in the past before the biochemical and molecular bases of this spectrum were fully determined, the term "ZSD" is now used to refer to all individuals with a defect in one of the ZSD-PEX genes regardless of phenotype. Individuals with ZSD usually come to clinical attention in the newborn period or later in childhood. Affected newborns are hypotonic and feed poorly. They have distinctive facies, congenital malformations (neuronal migration defects associated with neonatal-onset seizures, renal cysts, and bony stippling [chondrodysplasia punctata] of the patella[e] and the long bones), and liver disease that can be severe. Infants with severe ZSD are significantly impaired and typically die during the first year of life, usually having made no developmental progress. Individuals with intermediate/milder ZSD do not have congenital malformations, but rather progressive peroxisome dysfunction variably manifest as sensory loss (secondary to retinal dystrophy and sensorineural hearing loss), neurologic involvement (ataxia, polyneuropathy, and leukodystrophy), liver dysfunction, adrenal insufficiency, and renal oxalate stones. While hypotonia and developmental delays are typical, intellect can be normal. Some have osteopenia; almost all have ameleogenesis imperfecta in the secondary teeth.|GeneReviews|N|
C3550269|A neuroinflammatory response, occurring over several days, during which glial cells undergo nonspecific reactive changes in response to damage to the central nervous system (CNS); typically involves the proliferation or hypertrophy of different types of glial cells. [GOC:aruk, GOC:bc, PMID:24462092]|GO|N|
C3550273|The peroxisome biogenesis disorder (PBD) Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by Steinberg et al., 2006).
For a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see 214100.
Individuals with PBDs of complementation group 2 (CG2) have mutations in the PEX5 gene. For information on the history of PBD complementation groups, see 214100.|OMIM|N|
C3550398|Primary shunt hyperbilirubinemia (PSHB) is a rare form of clinical jaundice characterized by increased serum levels of unconjugated bilirubin associated with ineffective erythropoiesis and a hyperplastic bone marrow. Peripheral red blood cell survival is normal (summary by Wang et al., 2006). Although primary shunt hyperbilirubinemia is clinically similar to Gilbert syndrome (143500), affected individuals do not have impaired activity of UDP-glucuronosyltransferase (UGT1A1; 191740). The term 'shunt' refers to a 'shortcut' in bilirubin production, from the bone marrow or from very young red blood cells as opposed to being derived from the hemoglobin of mature circulating erythrocytes (Israels et al., 1959).|OMIM|N|
C3550430|A turning outward of the lip or lips, that is, eversion of the lips.|HPO|N|
C3550478|Isolated gonadotropin-releasing hormone (GnRH) deficiency (IGD) is characterized by inappropriately low serum concentrations of the gonadotropins LH (luteinizing hormone) and FSH (follicle-stimulating hormone) in the presence of low circulating concentrations of sex steroids. IGD is associated with a normal sense of smell (normosmic IGD) in approximately 40% of affected individuals and an impaired sense of smell (Kallmann syndrome) in approximately 60%. IGD can first become apparent in infancy, adolescence, or adulthood. Infant boys with congenital IGD often have micropenis and cryptorchidism. Adolescents and adults with IGD have clinical evidence of hypogonadism and incomplete sexual maturation on physical examination. Adult males with IGD tend to have prepubertal testicular volume (i.e., <4 mL), absence of secondary sexual features (e.g., facial and axillary hair growth, deepening of the voice), decreased muscle mass, diminished libido, erectile dysfunction, and infertility. Adult females have little or no breast development and primary amenorrhea. Although skeletal maturation is delayed, the rate of linear growth is usually normal except for the absence of a distinct pubertal growth spurt.|GeneReviews|N|
C3550693|Zellweger spectrum disorder (ZSD) is a phenotypic continuum ranging from severe to mild. While individual phenotypes (e.g., Zellweger syndrome [ZS], neonatal adrenoleukodystrophy [NALD], and infantile Refsum disease [IRD]) were described in the past before the biochemical and molecular bases of this spectrum were fully determined, the term "ZSD" is now used to refer to all individuals with a defect in one of the ZSD-PEX genes regardless of phenotype. Individuals with ZSD usually come to clinical attention in the newborn period or later in childhood. Affected newborns are hypotonic and feed poorly. They have distinctive facies, congenital malformations (neuronal migration defects associated with neonatal-onset seizures, renal cysts, and bony stippling [chondrodysplasia punctata] of the patella[e] and the long bones), and liver disease that can be severe. Infants with severe ZSD are significantly impaired and typically die during the first year of life, usually having made no developmental progress. Individuals with intermediate/milder ZSD do not have congenital malformations, but rather progressive peroxisome dysfunction variably manifest as sensory loss (secondary to retinal dystrophy and sensorineural hearing loss), neurologic involvement (ataxia, polyneuropathy, and leukodystrophy), liver dysfunction, adrenal insufficiency, and renal oxalate stones. While hypotonia and developmental delays are typical, intellect can be normal. Some have osteopenia; almost all have ameleogenesis imperfecta in the secondary teeth.|GeneReviews|N|
C3550704|A morphological abnormality of a digit, i.e., of a finger or toe.|HPO|N|
C3550789|GATA1-related cytopenia is characterized by thrombocytopenia and/or anemia ranging from mild to severe. One or more of the following may also be present: platelet dysfunction, mild ß-thalassemia, neutropenia, and congenital erythropoietic porphyria (CEP) in males. Thrombocytopenia typically presents in infancy as a bleeding disorder with easy bruising and mucosal bleeding (e.g., epistaxis). Anemia ranges from minimal (mild dyserythropoiesis) to severe (hydrops fetalis requiring in utero transfusion). At the extreme end of the clinical spectrum, severe hemorrhage and/or erythrocyte transfusion dependence are life long; at the milder end, anemia and the risk for bleeding may decrease spontaneously with age. Heterozygous females may have mild-to-moderate symptoms such as menorrhagia.|GeneReviews|N|
C3550856|XLANP is an X-linked recessive hematologic disorder characterized by early-onset anemia and bone marrow erythroid hypoplasia with variable neutropenia. Some patients may have low platelets or platelet abnormalities. The severity is variable. Some patients have shown a favorable response to corticosteroid treatment (summary by Hollanda et al., 2006 and Sankaran et al., 2012).
In some cases, the disorder may resemble Diamond-Blackfan anemia (see, e.g., DBA1; 105650) (Sankaran et al., 2012; Parrella et al., 2014; Klar et al., 2014).|OMIM|N|
C3550873|Underdevelopment of the heel bone.|HPO|N|
C3550875|X-linked autism-6 is a neurodevelopmental disorder that affects only males. Some patients may respond favorably to carnitine supplementation (summary by Ziats et al., 2015).
Autism, the prototypic pervasive developmental disorder (PDD), is usually apparent by 3 years of age. It is characterized by a triad of limited or absent verbal communication, a lack of reciprocal social interaction or responsiveness, and restricted, stereotypic, and ritualized patterns of interests and behavior (Bailey et al., 1996; Risch et al., 1999). 'Autism spectrum disorder,' sometimes referred to as ASD, is a broader phenotype encompassing the less severe disorders Asperger syndrome (see ASPG1; 608638) and pervasive developmental disorder, not otherwise specified (PDD-NOS). 'Broad autism phenotype' includes individuals with some symptoms of autism, but who do not meet the full criteria for autism or other disorders. Mental retardation coexists in approximately two-thirds of individuals with ASD, except for Asperger syndrome, in which mental retardation is conspicuously absent (Jones et al., 2008). Genetic studies in autism often include family members with these less stringent diagnoses (Schellenberg et al., 2006).
For a discussion of heterogeneity of autism, see 209850.|OMIM|N|
C3550903|Cornelia de Lange syndrome (CdLS) encompasses a spectrum of findings from mild to severe. Severe (classic) CdLS is characterized by distinctive facial features, growth restriction (prenatal onset; <5th centile throughout life), hypertrichosis, and upper-limb reduction defects that range from subtle phalangeal abnormalities to oligodactyly (missing digits). Craniofacial features include synophrys, highly arched and/or thick eyebrows, long eyelashes, short nasal bridge with anteverted nares, small widely spaced teeth, and microcephaly. Individuals with a milder phenotype have less severe growth, cognitive, and limb involvement, but often have facial features consistent with CdLS. Across the CdLS spectrum IQ ranges from below 30 to 102 (mean: 53). Many individuals demonstrate autistic and self-destructive tendencies. Other frequent findings include cardiac septal defects, gastrointestinal dysfunction, hearing loss, myopia, and cryptorchidism or hypoplastic genitalia.|GeneReviews|N|
C3550913|X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome is a rare X-linked syndromic intellectual disability disorder characterized by profound intellectual disability, global developmental delay with absent speech, seizures, large joint contractures, abnormal position of thumbs and middle-age onset of cardiomegaly and atrioventricular valve abnormalities, resulting in subsequent congestive heart failure. Additional features include variable facial dysmorphism (notably large ears with overfolded helix) and large testes.|ORDO|N|
C3550921|Microphthalmia with linear skin defects (MLS) syndrome is characterized by unilateral or bilateral microphthalmia and/or anophthalmia and linear skin defects, usually involving the face and neck, which are present at birth and heal with age, leaving minimal residual scarring. Other findings can include a wide variety of other ocular abnormalities (e.g., corneal anomalies, orbital cysts, cataracts), central nervous system involvement (e.g., structural anomalies, developmental delay, infantile seizures), cardiac concerns (e.g., hypertrophic or oncocytic cardiomyopathy, atrial or ventricular septal defects, arrhythmias), short stature, diaphragmatic hernia, nail dystrophy, hearing impairment, and genitourinary malformations. Inter- and intrafamilial variability is described.|GeneReviews|N|
C3550963|Central hypothyroidism and testicular enlargement (CHTE) is characterized by central hypothyroidism, delayed pubertal testosterone rise, adult macroorchidism, variable prolactin deficiency, and occasional transient partial GH deficiency. Some carrier females also exhibit central hypothyroidism and mild prolactin deficiency. Inter- and intrafamilial variability has been observed (summary by Joustra et al., 2016).|OMIM|N|
C3550973|Beta-propeller protein-associated neurodegeneration (BPAN) is typically characterized by early-onset seizures, infantile-onset developmental delay, intellectual disability, absent-to-limited expressive language, motor dysfunction (ataxia), and abnormal behaviors often similar to autism spectrum disorder. Seizure types including generalized (absence, tonic, atonic, tonic-clonic and myoclonic), focal with impaired consciousness, and epileptic spasms, as well as epileptic syndromes (West syndrome and Lennox-Gastaut syndrome) can be seen. With age seizures tend to resolve or become less prominent, whereas cognitive decline and movement disorders (progressive parkinsonism and dystonia) emerge as characteristic findings.|GeneReviews|N|
C3551019|An X-linked retinal dystrophy characterized by choroideremia, causing in affected males progressive nyctalopia and eventual central blindness. Obesity, moderate intellectual disability and congenital mixed (sensorineural and conductive) deafness are also observed. Female carriers show typical retinal changes indicative of the choroideremia carrier state.|ORDO|N|
C3551041|Median longitudinal ear length less than two SD above the mean determined by the maximal distance from the superior aspect to the inferior aspect of the external ear.|HPO|N|
C3551133|Polycystic dysgenetic disease of the parotid gland (PDDP) is a rare benign condition of the parotid gland. The disorder presents often in childhood or young adulthood, but may occur later in life. It occurs most commonly in females. Features include fluctuating and nontender swelling of the parotid gland bilaterally, without defects in salivary function. Histology shows replacement of the lobular portion of the parotid gland by multiple epithelial-lined cysts arising from the intercalated ducts. The cysts often contain altered salivary secretions, including spheroliths or microliths; eosinophilic congophilic deposits have also been described. Chronic inflammation is not present. The condition is thought to result from a developmental defect of the intercalated duct system. Surgery may be indicated for diagnosis or for cosmetic reasons (summary by Smyth et al., 1993; Layfield and Gopez, 2002; Eley et al., 2011).|OMIM|N|
C3551148|Absence or hypoplasia of toes.|HPO|N|
C3551173|UV-sensitive syndrome-1 (UVSS1) is an autosomal recessive disorder characterized by cutaneous photosensitivity and mild freckling, without an increased risk of skin tumors. Patient cells show impaired recovery of RNA synthesis (RRS) after UV irradiation due to defective preferential repair of DNA damage in actively transcribing genes, although unscheduled DNA repair is normal. The cellular findings are consistent with a defect in transcription-coupled nucleotide excision repair (TC-NER) of UV damage (summary by Horibata et al., 2004).
Genetic Heterogeneity of UV-Sensitive Syndrome
See also UVSS2 (614621), caused by mutation in the ERCC8 gene (609412) on chromosome 5q12, and UVSS3 (614640), caused by mutation in the UVSSA gene (614632) on chromosome 4p16.|OMIM|N|
C3551260|A rare multiple congenital anomalies syndrome characterized principally by Sprengel anomaly (upward displacement of the scapula) and hydrocephaly. Other anomalies such as global developmental delay, psychosis, brachydactyly, and costovertebral dysplasia may also be present.|ORDO|N|
C3551424|Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings. Ectodermal dysplasia-8 is an autosomal recessive disorder characterized by abnormal development of hair, teeth, and nails.|OMIM|N|
C3551426|The presence of misshapen or partially destroyed nail plates, often with accumulation of soft, yellow keratin between the dystrophic nail plate and nail bed, resulting in elevation of the nail plate.|HPO|N|
C3551716|Cortisone reductase deficiency (CRD) results from a failure to regenerate the active glucocorticoid cortisol from cortisone via the enzyme 11-beta-hydroxysteroid dehydrogenase (HSD11B1; 600713). The oxoreductase activity of 11-beta-HSD requires the NADPH-regenerating enzyme hexose-6-phosphate dehydrogenase (H6PD; 138090) within the endoplasmic reticulum. Lack of cortisol regeneration stimulates ACTH-mediated adrenal hyperandrogenism, with males manifesting in early life with precocious pseudopuberty and females presenting in midlife with hirsutism, oligomenorrhea, and infertility. Biochemically, CRD is diagnosed through the assessment of urinary cortisol and cortisone metabolites and consists of measuring the tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (THE) ratio, which in CRD patients is typically less than 0.1 (reference range, 0.7 to 1.2) (summary by Lavery et al., 2008).
Genetic Heterogeneity of Cortisone Reductase Deficiency
CORTRD2 (614662) is caused by mutation in the HSD11B1 gene (600713) on chromosome 1q32.|OMIM|N|
C3551718|The relative concentration of tetrahydrocortisol plus 5-alpha-tetrahydrocortisol relative to that of tetrahydrocortisone is below the lower limit of normal.|HPO|N|
C3551915|Individuals with MN1 C-terminal truncation (MCTT) syndrome have mild-to-moderate intellectual disability, severe expressive language delay, dysmorphic facial features (midface hypoplasia, downslanting palpebral fissures, hypertelorism, exophthalmia, short upturned nose, and small low-set ears), and distinctive findings on brain imaging (including perisylvian polymicrogyria and atypical rhombencephalosynapsis). Mild-to-moderate prelingual hearing loss (usually bilateral, conductive, and/or sensorineural) is common. Generalized seizures (observed in the minority of individuals) are responsive to anti-seizure medication. There is an increased risk for craniosynostosis and, thus, increased intracranial pressure. To date, 25 individuals with MCTT syndrome have been identified.|GeneReviews|N|
C3551954|Primary coenzyme Q10 (CoQ10) deficiency is usually associated with multisystem involvement, including neurologic manifestations such as fatal neonatal encephalopathy with hypotonia; a late-onset slowly progressive multiple-system atrophy-like phenotype (neurodegeneration with autonomic failure and various combinations of parkinsonism and cerebellar ataxia, and pyramidal dysfunction); and dystonia, spasticity, seizures, and intellectual disability. Steroid-resistant nephrotic syndrome (SRNS), the hallmark renal manifestation, is often the initial manifestation either as isolated renal involvement that progresses to end-stage renal disease (ESRD), or associated with encephalopathy (seizures, stroke-like episodes, severe neurologic impairment) resulting in early death. Hypertrophic cardiomyopathy (HCM), retinopathy or optic atrophy, and sensorineural hearing loss can also be seen.|GeneReviews|N|
C3551958|Reduced amount of coenzyme Q10,a naturally occurring quinone, in skeletal muscle tissue.|HPO|N|
C3552156|Underdevelopment of the semicircular canal.|HPO|N|
C3552227|Achromatopsia is different from the more common forms of color vision deficiency (also called color blindness), in which people can perceive color but have difficulty distinguishing between certain colors, such as red and green.\n\nAchromatopsia also involves other problems with vision, including an increased sensitivity to light and glare (photophobia), involuntary back-and-forth eye movements (nystagmus), and significantly reduced sharpness of vision (low visual acuity). Affected individuals can also have farsightedness (hyperopia) or, less commonly, nearsightedness (myopia). These vision problems develop in the first few months of life.\n\nAchromatopsia is a condition characterized by a partial or total absence of color vision. People with complete achromatopsia cannot perceive any colors; they see only black, white, and shades of gray. Incomplete achromatopsia is a milder form of the condition that allows some color discrimination.|MedlinePlus Genetics|N|
C3552236|Complex cortical dysplasia with other brain malformations-7 is an autosomal dominant, clinically heterogeneous disorder showing a wide spectrum of abnormalities of cortical brain development. The most severely affected patients are fetuses with microlissencephaly, absence of the cortical plate, agenesis of the corpus callosum, and severely hypoplastic brainstem and cerebellum. Other patients have lissencephaly, polymicrogyria, cortical dysplasia, or neuronal heterotopia. Those with less severe malformations can survive, but usually have some degree of neurologic impairment, such as mental retardation, seizures, and movement abnormalities (summary by Chang et al., 2006; Fallet-Bianco et al., 2014).
For a discussion of genetic heterogeneity of CDCBM, see CDCBM1 (614039).|OMIM|N|
C3552335|Congenital myasthenic syndrome-12 is an autosomal recessive neuromuscular disorder characterized by onset of proximal muscle weakness in the first decade. EMG classically shows a decremental response to repeated nerve stimulation. Affected individuals show a favorable response to acetylcholinesterase (AChE) inhibitors (summary by Senderek et al., 2011).
For a discussion of genetic heterogeneity of CMS, see CMS1A (601462).|OMIM|N|
C3552343|Isolated gonadotropin-releasing hormone (GnRH) deficiency (IGD) is characterized by inappropriately low serum concentrations of the gonadotropins LH (luteinizing hormone) and FSH (follicle-stimulating hormone) in the presence of low circulating concentrations of sex steroids. IGD is associated with a normal sense of smell (normosmic IGD) in approximately 40% of affected individuals and an impaired sense of smell (Kallmann syndrome) in approximately 60%. IGD can first become apparent in infancy, adolescence, or adulthood. Infant boys with congenital IGD often have micropenis and cryptorchidism. Adolescents and adults with IGD have clinical evidence of hypogonadism and incomplete sexual maturation on physical examination. Adult males with IGD tend to have prepubertal testicular volume (i.e., <4 mL), absence of secondary sexual features (e.g., facial and axillary hair growth, deepening of the voice), decreased muscle mass, diminished libido, erectile dysfunction, and infertility. Adult females have little or no breast development and primary amenorrhea. Although skeletal maturation is delayed, the rate of linear growth is usually normal except for the absence of a distinct pubertal growth spurt.|GeneReviews|N|
C3552414|Displacement of the thumb from its normal position.|HPO|N|
C3552484|A pseudoepiphysis (which is a secondary ossification center distinct from the normal epiphysis) of one or more phalanges of the thumb.|HPO|N|
C3552526|Abnormally increased density of metaphyseal bone.|HPO|N|
C3552553|Isolated gonadotropin-releasing hormone (GnRH) deficiency (IGD) is characterized by inappropriately low serum concentrations of the gonadotropins LH (luteinizing hormone) and FSH (follicle-stimulating hormone) in the presence of low circulating concentrations of sex steroids. IGD is associated with a normal sense of smell (normosmic IGD) in approximately 40% of affected individuals and an impaired sense of smell (Kallmann syndrome) in approximately 60%. IGD can first become apparent in infancy, adolescence, or adulthood. Infant boys with congenital IGD often have micropenis and cryptorchidism. Adolescents and adults with IGD have clinical evidence of hypogonadism and incomplete sexual maturation on physical examination. Adult males with IGD tend to have prepubertal testicular volume (i.e., <4 mL), absence of secondary sexual features (e.g., facial and axillary hair growth, deepening of the voice), decreased muscle mass, diminished libido, erectile dysfunction, and infertility. Adult females have little or no breast development and primary amenorrhea. Although skeletal maturation is delayed, the rate of linear growth is usually normal except for the absence of a distinct pubertal growth spurt.|GeneReviews|N|
C3552574|Isolated gonadotropin-releasing hormone (GnRH) deficiency (IGD) is characterized by inappropriately low serum concentrations of the gonadotropins LH (luteinizing hormone) and FSH (follicle-stimulating hormone) in the presence of low circulating concentrations of sex steroids. IGD is associated with a normal sense of smell (normosmic IGD) in approximately 40% of affected individuals and an impaired sense of smell (Kallmann syndrome) in approximately 60%. IGD can first become apparent in infancy, adolescence, or adulthood. Infant boys with congenital IGD often have micropenis and cryptorchidism. Adolescents and adults with IGD have clinical evidence of hypogonadism and incomplete sexual maturation on physical examination. Adult males with IGD tend to have prepubertal testicular volume (i.e., <4 mL), absence of secondary sexual features (e.g., facial and axillary hair growth, deepening of the voice), decreased muscle mass, diminished libido, erectile dysfunction, and infertility. Adult females have little or no breast development and primary amenorrhea. Although skeletal maturation is delayed, the rate of linear growth is usually normal except for the absence of a distinct pubertal growth spurt.|GeneReviews|N|
C3552634|Lymphoproliferative syndrome-1 is an autosomal recessive primary immunodeficiency characterized by onset in early childhood of Epstein-Barr virus (EBV)-associated immune dysregulation, manifest as lymphoma, lymphomatoid granulomatosis, hemophagocytic lymphohistiocytosis, Hodgkin disease, and/or hypogammaglobulinemia. Autoimmune disorders, such as autoimmune hemolytic anemia or renal disease, may also occur. Patients show a high EBV viral load and decreased invariant natural killer T cells. It is unknown whether patients with ITK mutations are intrinsically susceptible to development of lymphoma or dysgammaglobulinemia in the absence of EBV infection (summary by Stepensky et al., 2011; Linka et al., 2012).
For a discussion of genetic heterogeneity of lymphoproliferative syndrome, see XLP1 (308240).|OMIM|N|
C3552821|EEG abnormalities (epileptiform discharges) evoked by flashing lights or black and white striped patterns.|HPO|N|
C3552824|Increase in amplitude of a long-loop response upon somatosensory evoked potential testing, representing an electrically evoked myoclonic response.|HPO|N|
C3552825|Jerk-locked averaging (JLA) is used to record the timing and distribution of brain activity preceding brisk involuntary movements such as those observed in patients with myoclonus. JLA is capable of revealing a premyoclonus spike in the absence of paroxysmal activity in the routine EEG.|HPO|N|
C3552843|Os odontoideum is classified into two anatomic types (orthotopic and dystopic). Os odontoideum is defined as an ossicle that consists of smooth and separate caudal portions of the odontoid process. With orthotopic os odontoideum, the ossicle moves with the anterior arch of the atlas, while the dystopic type consists of an ossicle near the basion, or one that is fused with the clivus|HPO|N|
C3552908|Increased intensity of muscle tendon reflexes in jaw.|HPO|N|
C3553029|Autosomal recessive congenital ichthyosis (ARCI) encompasses several forms of nonsyndromic ichthyosis. Although most neonates with ARCI are collodion babies, the clinical presentation and severity of ARCI may vary significantly, ranging from harlequin ichthyosis, the most severe and often fatal form, to lamellar ichthyosis (LI) and (nonbullous) congenital ichthyosiform erythroderma (CIE). These phenotypes are now recognized to fall on a continuum; however, the phenotypic descriptions are clinically useful for clarification of prognosis and management. Infants with harlequin ichthyosis are usually born prematurely and are encased in thick, hard, armor-like plates of cornified skin that severely restrict movement. Life-threatening complications in the immediate postnatal period include respiratory distress, feeding problems, and systemic infection. Collodion babies are born with a taut, shiny, translucent or opaque membrane that encases the entire body and lasts for days to weeks. LI and CIE are seemingly distinct phenotypes: classic, severe LI with dark brown, plate-like scale with no erythroderma and CIE with finer whiter scale and underlying generalized redness of the skin. Affected individuals with severe involvement can have ectropion, eclabium, scarring alopecia involving the scalp and eyebrows, and palmar and plantar keratoderma. Besides these major forms of nonsyndromic ichthyosis, a few rare subtypes have been recognized, such as bathing suit ichthyosis, self-improving collodion ichthyosis, or ichthyosis-prematurity syndrome.|GeneReviews|N|
C3553060|Emery-Dreifuss muscular dystrophy is a genetically heterogeneous muscular disease that presents with muscular dystrophy, joint contractures, and cardiomyopathy with conduction defects (summary by Liang et al., 2011).
For a discussion of genetic heterogeneity of EDMD, see 310300.|OMIM|N|
C3553077|Any syndromic microphthalmia in which the cause of the disease is a mutation in the VAX1 gene.|MONDO|N|
C3553078|Failure to develop of the pineal gland, defined clinically as the absence of the pineal gland with no indication of the pineal gland even having been present.|HPO|N|
C3553084|Nonmidline cleft palate on the left and right sides.|HPO|N|
C3553230|CDG2L is an autosomal recessive multisystem disorder apparent from birth or early infancy. It is characterized by poor growth, gastrointestinal and liver abnormalities, delayed psychomotor development, hypotonia, recurrent infections, hematologic abnormalities, increased bleeding tendency, and hyperhidrosis or hyperkeratosis. More variable features include nonspecific dysmorphic facial features and cardiac septal defects. The disorder often results in death in infancy or the first years of life (summary by Rymen et al., 2015).
For a general discussion of CDGs, see CDG1A (212065) and CDG2A (212066).|OMIM|N|
C3553247|Coffin-Siris syndrome is a congenital malformation syndrome characterized by developmental delay, intellectual disability, coarse facial features, feeding difficulties, and hypoplastic or absent fifth fingernails and fifth distal phalanges. Other more variable features may also occur. Patients with ARID1A mutations have a wide spectrum of manifestations, from severe intellectual disability and serious internal complications that could result in early death to mild intellectual disability (summary by Kosho et al., 2014).
For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (135900).
The chromosome 1p36.11 duplication syndrome, in which the ARID1A gene is duplicated, is characterized by impaired intellectual development, microcephaly, dysmorphic facial features, and hand and foot anomalies.|OMIM|N|
C3553248|Coffin-Siris syndrome is a congenital malformation syndrome characterized by developmental delay, intellectual disability, coarse facial features, feeding difficulties, and hypoplastic or absent fifth fingernails and fifth distal phalanges. Other more variable features may also occur. Patients with SMARCB1 mutations may have more severe neurodevelopmental deficits including severe intellectual disability, brain structural abnormalities, and no expressive words, as well as scoliosis (summary by Kosho et al., 2014).
For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (135900).|OMIM|N|
C3553249|Coffin-Siris syndrome is a congenital malformation syndrome characterized by developmental delay, intellectual disability, coarse facial features, feeding difficulties, and hypoplastic or absent fifth fingernails and fifth distal phalanges. Other more variable features may also occur. Patients with SMARCA4 mutations may have less coarse craniofacial appearances and fewer behavioral abnormalities than Coffin-Siris patients with mutations in other genes (summary by Kosho et al., 2014).
For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (135900).|OMIM|N|
C3553250|Acrodysostosis-2 (ACRDYS2) is a rare skeletal dysplasia characterized by brachydactyly, facial dysostosis, and spinal stenosis. Many patients have intellectual disability and some have hormone resistance (summary by Michot et al., 2012 and Lee et al., 2012).
For a discussion of genetic heterogeneity of acrodysostosis, see ACRDYS1 (101800).|OMIM|N|
C3553264|Classic Joubert syndrome (JS) is characterized by three primary findings: A distinctive cerebellar and brain stem malformation called the molar tooth sign (MTS). Hypotonia. Developmental delays. Often these findings are accompanied by episodic tachypnea or apnea and/or atypical eye movements. In general, the breathing abnormalities improve with age, truncal ataxia develops over time, and acquisition of gross motor milestones is delayed. Cognitive abilities are variable, ranging from severe intellectual disability to normal. Additional findings can include retinal dystrophy, renal disease, ocular colobomas, occipital encephalocele, hepatic fibrosis, polydactyly, oral hamartomas, and endocrine abnormalities. Both intra- and interfamilial variation are seen.|GeneReviews|N|
C3553270|Diarrhea-6 is a relatively mild, early-onset chronic diarrhea that may be associated with increased susceptibility to inflammatory bowel disease, small bowel obstruction, and esophagitis (Fiskerstrand et al., 2012).
For a discussion of genetic heterogeneity of diarrhea, see DIAR1 (214700).|OMIM|N|
C3553288|Hereditary hyperekplexia may explain some cases of sudden infant death syndrome (SIDS), which is a major cause of unexplained death in babies younger than 1 year.\n\nThe signs and symptoms of hereditary hyperekplexia typically fade by age 1. However, older individuals with hereditary hyperekplexia may still startle easily and have periods of rigidity, which can cause them to fall down. They may also continue to have hypnagogic myoclonus or movements during sleep. As they get older, individuals with this condition may have a low tolerance for crowded places and loud noises. People with hereditary hyperekplexia who have epilepsy have the seizure disorder throughout their lives.\n\nOther signs and symptoms of hereditary hyperekplexia can include muscle twitches when falling asleep (hypnagogic myoclonus) and movements of the arms or legs while asleep. Some infants, when tapped on the nose, extend their head forward and have spasms of the limb and neck muscles. Rarely, infants with hereditary hyperekplexia experience recurrent seizures (epilepsy).\n\nHereditary hyperekplexia is a condition in which affected infants have increased muscle tone (hypertonia) and an exaggerated startle reaction to unexpected stimuli, especially loud noises. Following the startle reaction, infants experience a brief period in which they are very rigid and unable to move. During these rigid periods, some infants stop breathing, which, if prolonged, can be fatal. Infants with hereditary hyperekplexia have hypertonia at all times, except when they are sleeping.|MedlinePlus Genetics|N|
C3553291|Hereditary hyperekplexia is a condition in which affected infants have increased muscle tone (hypertonia) and an exaggerated startle reaction to unexpected stimuli, especially loud noises. Following the startle reaction, infants experience a brief period in which they are very rigid and unable to move. During these rigid periods, some infants stop breathing, which, if prolonged, can be fatal. Infants with hereditary hyperekplexia have hypertonia at all times, except when they are sleeping.\n\nOther signs and symptoms of hereditary hyperekplexia can include muscle twitches when falling asleep (hypnagogic myoclonus) and movements of the arms or legs while asleep. Some infants, when tapped on the nose, extend their head forward and have spasms of the limb and neck muscles. Rarely, infants with hereditary hyperekplexia experience recurrent seizures (epilepsy).\n\nThe signs and symptoms of hereditary hyperekplexia typically fade by age 1. However, older individuals with hereditary hyperekplexia may still startle easily and have periods of rigidity, which can cause them to fall down. They may also continue to have hypnagogic myoclonus or movements during sleep. As they get older, individuals with this condition may have a low tolerance for crowded places and loud noises. People with hereditary hyperekplexia who have epilepsy have the seizure disorder throughout their lives.\n\nHereditary hyperekplexia may explain some cases of sudden infant death syndrome (SIDS), which is a major cause of unexplained death in babies younger than 1 year.|MedlinePlus Genetics|N|
C3553298|UV-sensitive syndrome-2 (UVSS2) is an autosomal recessive disorder characterized by cutaneous photosensitivity and increased freckling, without an increased risk of skin tumors. Patient cells show impaired recovery of RNA synthesis (RRS) after UV irradiation due to defective preferential repair of DNA damage in actively transcribing genes, although unscheduled DNA repair is normal. The cellular findings are consistent with a defect in transcription-coupled nucleotide excision repair (TC-NER) of UV damage (summary by Nardo et al., 2009).
See also Cockayne syndrome type A (CSA; 216400), an allelic disorder with a more severe phenotype including neurologic symptoms and skeletal abnormalities.
For a general phenotypic description and a discussion of genetic heterogeneity of UVSS, see UVSS1 (600630).|OMIM|N|
C3553302|Keratoconus is a noninflammatory progressive corneal thinning disorder resulting in mixed myopia and irregular astigmatism. Characteristic features include stromal thinning, Vogt striae, Fleisher ring, and scissoring of the retinoscopic reflex with a fully dilated pupil. Symptoms usually develop in the second decade and are likely to progress in the third decade, whereas progression slows after age 30 years. The progression of keratoconus may result in severe visual impairment and some affected individuals require cornea transplantation. The prevalence of keratoconus is about 1 in 2,000 in Caucasian populations, and is a leading cause for cornea transplantation in developed countries (summary by Tang et al., 2005).
For a discussion of genetic heterogeneity of keratoconus, see KTCN1 (148300).|OMIM|N|
C3553306|Keratoconus is a clinical term used to describe a condition in which the cornea assumes a conical shape as a result of noninflammatory thinning and protrusion. Keratoconus is detected clinically by slit-lamp evaluation, which demonstrates stromal corneal thinning. Other clinical signs may include Vogt striae, iron ring, scarring, retroillumination signs such as the 'Charleaux oil droplet reflex,' and/or scissoring on retinoscopy; in subtle cases, the diagnosis may be confirmed by videokeratography. The estimated prevalence of keratoconus ranges from 50 to 230 per 100,000 in the general population, and approximately 6% to 23.5% of reported cases demonstrate familial transmission. Age of onset is at puberty and the disorder is progressive until the third or fourth decade of life, when it usually arrests. It is a major cause of cornea transplantation in developed countries (summary by Li et al., 2006).
For a discussion of genetic heterogeneity of keratoconus, see KTCN1 (148300).|OMIM|N|
C3553307|Keratoconus is a noninflammatory disorder in which there is thinning and ectasia of the cornea. The estimated prevalence varies from 29 to 86 per 100,000, although the condition may be underreported. The onset of disease is typically after puberty, with subsequent progression at a variable rate over the following decades. Visual acuity is initially reduced by irregular corneal astigmatism but scarring can also develop (summary by Liskova et al., 2010).
For a discussion of genetic heterogeneity of keratoconus, see KTCN1 (148300).|OMIM|N|
C3553308|Keratoconus (KTCN) is a noninflammatory thinning and consequent bulging of the cornea that results in distortion of the corneal surface, altered refractive powers of the eye (both axial and refractive), and reduced visual acuity. In more advanced cases, corneal scarring further reduces visual acuity. Symptoms are highly variable and depend on the stage of the progression of the disorder. The trait has an incidence of approximately 1 in 2,000 individuals and is the most common indication for corneal transplantation in the United States (summary by Gajecka et al., 2009).
For a discussion of genetic heterogeneity of keratoconus, see KTCN1 (148300).|OMIM|N|
C3553328|UV-sensitive syndrome-3 is an autosomal recessive disorder characterized by cutaneous photosensitivity and slight dyspigmentation, without an increased risk of skin tumors. Patient cells show impaired recovery of RNA synthesis (RRS) after UV irradiation due to defective preferential repair of DNA damage in actively transcribing genes, although unscheduled DNA repair is normal. The cellular findings are consistent with a defect in transcription-coupled nucleotide excision repair (TC-NER) of UV damage (summary by Itoh et al., 1994 and Nakazawa et al., 2012).
For a general phenotypic description and a discussion of genetic heterogeneity of UVSS, see UVSS1 (600630).|OMIM|N|
C3553330|Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A), which includes both the more severe Walker-Warburg syndrome (WWS) and the slightly less severe muscle-eye-brain disease (MEB), is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. It represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1; 128239), collectively known as 'dystroglycanopathies' (summary by Roscioli et al., 2012).
For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (236670).|OMIM|N|
C3553331|A form of heterotopia were the mislocalized gray matter is located deep within the white matter.|HPO|N|
C3553349|Primary coenzyme Q10 (CoQ10) deficiency is usually associated with multisystem involvement, including neurologic manifestations such as fatal neonatal encephalopathy with hypotonia; a late-onset slowly progressive multiple-system atrophy-like phenotype (neurodegeneration with autonomic failure and various combinations of parkinsonism and cerebellar ataxia, and pyramidal dysfunction); and dystonia, spasticity, seizures, and intellectual disability. Steroid-resistant nephrotic syndrome (SRNS), the hallmark renal manifestation, is often the initial manifestation either as isolated renal involvement that progresses to end-stage renal disease (ESRD), or associated with encephalopathy (seizures, stroke-like episodes, severe neurologic impairment) resulting in early death. Hypertrophic cardiomyopathy (HCM), retinopathy or optic atrophy, and sensorineural hearing loss can also be seen.|GeneReviews|N|
C3553354|Primary coenzyme Q10 (CoQ10) deficiency is usually associated with multisystem involvement, including neurologic manifestations such as fatal neonatal encephalopathy with hypotonia; a late-onset slowly progressive multiple-system atrophy-like phenotype (neurodegeneration with autonomic failure and various combinations of parkinsonism and cerebellar ataxia, and pyramidal dysfunction); and dystonia, spasticity, seizures, and intellectual disability. Steroid-resistant nephrotic syndrome (SRNS), the hallmark renal manifestation, is often the initial manifestation either as isolated renal involvement that progresses to end-stage renal disease (ESRD), or associated with encephalopathy (seizures, stroke-like episodes, severe neurologic impairment) resulting in early death. Hypertrophic cardiomyopathy (HCM), retinopathy or optic atrophy, and sensorineural hearing loss can also be seen.|GeneReviews|N|
C3553358|Primary coenzyme Q10 (CoQ10) deficiency is usually associated with multisystem involvement, including neurologic manifestations such as fatal neonatal encephalopathy with hypotonia; a late-onset slowly progressive multiple-system atrophy-like phenotype (neurodegeneration with autonomic failure and various combinations of parkinsonism and cerebellar ataxia, and pyramidal dysfunction); and dystonia, spasticity, seizures, and intellectual disability. Steroid-resistant nephrotic syndrome (SRNS), the hallmark renal manifestation, is often the initial manifestation either as isolated renal involvement that progresses to end-stage renal disease (ESRD), or associated with encephalopathy (seizures, stroke-like episodes, severe neurologic impairment) resulting in early death. Hypertrophic cardiomyopathy (HCM), retinopathy or optic atrophy, and sensorineural hearing loss can also be seen.|GeneReviews|N|
C3553368|Limitation of the extension of the hip, i.e., decreased ability to straighten the hip joint and thereby increase the angle between torso and thigh; moving the thigh or top of the pelvis backward.|HPO|N|
C3553374|Primary coenzyme Q10 (CoQ10) deficiency is usually associated with multisystem involvement, including neurologic manifestations such as fatal neonatal encephalopathy with hypotonia; a late-onset slowly progressive multiple-system atrophy-like phenotype (neurodegeneration with autonomic failure and various combinations of parkinsonism and cerebellar ataxia, and pyramidal dysfunction); and dystonia, spasticity, seizures, and intellectual disability. Steroid-resistant nephrotic syndrome (SRNS), the hallmark renal manifestation, is often the initial manifestation either as isolated renal involvement that progresses to end-stage renal disease (ESRD), or associated with encephalopathy (seizures, stroke-like episodes, severe neurologic impairment) resulting in early death. Hypertrophic cardiomyopathy (HCM), retinopathy or optic atrophy, and sensorineural hearing loss can also be seen.|GeneReviews|N|
C3553381|Stuttering is a disorder of the flow of speech characterized by involuntary repetitions or prolongations of sounds or syllables, and by interruptions of speech known as blocks (summary by Raza et al., 2010).
For a general phenotypic description and a discussion of genetic heterogeneity of stuttering, see STUT1 (184450).|OMIM|N|
C3553382|Cortisone reductase deficiency is a disorder in which there is a failure to regenerate the active glucocorticoid cortisol from cortisone via the enzyme 11-beta-hydroxysteroid dehydrogenase, encoded by the HSD11B1 gene. Purified 11-beta-HSD acts readily as a dehydrogenase, inactivating cortisol to cortisone; however, in the presence of a high NADPH/NADP+ ratio, generated in vivo through the activity of microsomal hexose-6-phosphate dehydrogenase (H6PD; 138090), 11-beta-HSD switches to ketoreductase activity and generates active glucocorticoid. Lack of cortisol regeneration stimulates ACTH-mediated adrenal hyperandrogenism, with males manifesting in early life with precocious pseudopuberty and females presenting later with hirsutism, oligomenorrhea, and infertility. Biochemically, CORTRD is diagnosed through the assessment of urinary cortisol and cortisone metabolites and consists of measuring the ratio of tetrahydrocortisol (THF) plus 5-alpha-THF to tetrahydrocortisone (THE), which in CORTRD patients is typically less than 0.1 (reference range, 0.7 to 1.2) (summary by Lawson et al., 2011).
For a discussion of genetic heterogeneity of cortisone reductase deficiency, see CORTRD1 (604931).|OMIM|N|
C3553403|Stuttering is a disorder of the flow of speech characterized by involuntary repetitions or prolongations of sounds or syllables, and by interruptions of speech known as blocks (summary by Raza et al., 2010).
For a general phenotypic description and a discussion of genetic heterogeneity of stuttering, see STUT1 (184450).|OMIM|N|
C3553404|Auriculocondylar syndrome (ARCND), also known as 'question-mark ear syndrome' or 'dysgnathia complex,' is a craniofacial malformation syndrome characterized by highly variable mandibular anomalies, including mild to severe micrognathia, often with temporomandibular joint ankylosis, cleft palate, and a distinctive ear malformation that consists of separation of the lobule from the external ear, giving the appearance of a question mark. Other frequently described features include prominent cheeks, cupped and posteriorly rotated ears, preauricular tags, and microstomia (summary by Rieder et al., 2012).
For a discussion of genetic heterogeneity of auriculocondylar syndrome, see ARCND1 (602483).|OMIM|N|
C3553406|Peripartum cardiomyopathy (PPCM) is characterized by systolic heart failure presenting in the last month of pregnancy or the first 5 months postpartum. PPCM affects 1 in 300 to 1 in 3,000 pregnancies, with geographic hot spots of high incidence, such as Nigeria and Haiti. Although approximately half of affected women recover cardiac function postpartum, many patients progress to chronic heart failure, cardiac transplantation, or death. Data have suggested that antiangiogenic prolactin (176760) fragments may have an important role in causing the disease in some patients. Risk factors for PPCM also include preeclampsia (see 189800) and multiple gestation, suggesting a potential mechanistic overlap with these processes (summary by Patten et al., 2012).|OMIM|N|
C3553407|16p11.2 duplication is a chromosomal change in which a small amount of genetic material within chromosome 16 is abnormally copied (duplicated). The duplication occurs near the middle of the chromosome at a location designated p11.2. This duplication can have a variety of effects. Common characteristics that occur in people with a 16p11.2 duplication include a low weight; a small head size (microcephaly); and developmental delay, especially in speech and language. Affected individuals also have an increased risk of behavioral problems. However, some people with the duplication have no identified physical or behavioral abnormalities.\n\nDevelopmental delay and intellectual disability can occur in people with a 16p11.2 duplication. Approximately one-third of children with this condition have delays in developing physical skills such as sitting, crawling, or walking. The average IQ of affected individuals is about 26 points lower than that of their parents without the duplication. About 80 percent of people with a 16p11.2 duplication have problems related to speech or language. Both expressive language skills (vocabulary and the production of speech) and receptive language skills (the ability to understand speech) can be affected.\n\nOne of the most common behavioral problems associated with this chromosomal change is attention-deficit/hyperactivity disorder (ADHD). Autism spectrum disorder, which affects communication and social skills, is diagnosed in about one in five people with a 16p11.2 duplication. Affected individuals also have an increased risk of mental health problems, including schizophrenia, anxiety, and depression. Recurrent seizures are possible in this condition, although they do not occur in most affected individuals.\n\nOther abnormalities that can occur with a 16p11.2 duplication include malformations of the kidneys and urinary tract. However, there is no particular pattern of physical abnormalities that characterizes 16p11.2 duplications; signs and symptoms related to the chromosomal change vary even among affected members of the same family.|MedlinePlus Genetics|N|
C3553409|Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the GATAD1 gene.|MONDO|N|
C3553414|Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CEP135 gene.|MONDO|N|
C3553418|Women show menstrual cycle-dependent physiologic changes in relation to sex hormone levels. Because ovulation triggers a significant change in the hormonal milieu that is similar to local inflammation, a 0.5 to 1.0 degree Celsius increase in basal body temperature after ovulation is commonly associated with progesterone secretion and is believed to be triggered by the induction of several inflammatory cytokines. Rare menstrual cycle-dependent febrile episodes have been reported, some of which have shown a luteal-phase-dependent pattern (summary by Jiang et al., 2012).|OMIM|N|
C3553442|Hypertrophic cardiomyopathy (CMH) is characterized by unexplained cardiac hypertrophy: thickening of the myocardial wall in the absence of any other identifiable cause for left ventricular hypertrophy such as systemic hypertension or valvular heart disease. Myocyte hypertrophy, disarray, and fibrosis are the histopathologic hallmarks of this disorder. Clinical features are diverse and include arrhythmias, sudden cardiac death, and heart failure. With an estimated prevalence of 1 in 500, CMH is the most common cardiovascular genetic disease and the most common cause of sudden death in competitive athletes in the United States (summary by Song et al., 2006).
For a discussion of genetic heterogeneity of familial hypertrophic cardiomyopathy, see CMH1 (192600).|OMIM|N|
C3553449|EXOSC3 pontocerebellar hypoplasia (EXOSC3-PCH) is characterized by abnormalities in the posterior fossa and degeneration of the anterior horn cells. At birth, skeletal muscle weakness manifests as hypotonia (sometimes with congenital joint contractures) and poor feeding. In persons with prolonged survival, spasticity, dystonia, and seizures become evident. Within the first year of life respiratory insufficiency and swallowing difficulties are common. Intellectual disability is severe. Life expectancy ranges from a few weeks to adolescence. To date, 82 individuals (from 58 families) with EXOSC3-PCH have been described.|GeneReviews|N|
C3553450|A profound delay in the achievement of motor or mental milestones in the domains of development of a child.|HPO|N|
C3553471|Oral commissures positioned superior to the midline labial fissure.|HPO|N|
C3553476|Alar clefts most commonly occur in association with cleft lip and/or other craniofacial anomalies. The basic embryonic mechanism in alar clefts involves failure of fusion between the medial and the lateral nasal processes during the sixth to tenth weeks. The medial process gives rise to one-half of the nasal septum and the medial crus of the lower lateral alar cartilage, and the lateral process gives rise to the external wall of the nose, nasal bones, upper lateral cartilage, alae, and lateral crus of the lower lateral cartilage. The dorsum and apex of the nose, which are derived from the frontonasal process, are usually well preserved in patients with isolated alar cleft (summary by Richieri-Costa and Guion-Almeida, 2009).|OMIM|N|
C3553494|Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the AGK gene.|MONDO|N|
C3553496|Membranous nephropathy, a major cause of the nephrotic syndrome in adults, is characterized by the presence of glomerular deposits that typically contain immunoglobulin and complement components. Two major antigens, both of which are membrane glycoproteins, have been identified in human membranous nephropathy. Neutral endopeptidase (MME; 120520) is the alloantigen involved in membranous nephropathy in neonates whose mothers have a deficiency of this enzyme. The second is the M-type phospholipase A2 receptor (PLA2R1; 604939), the first antigen identified in adults with idiopathic membranous nephropathy, which is generally considered to be an autoimmune disease. In addition, autoantibodies against aldose reductase (AKR1B1; 103880), mitochondrial superoxide dismutase-2 (SOD2; 147460), and THSD7A (612249) have been found in serum and glomeruli from patients with idiopathic membranous nephropathy. Familial occurrence has been noted by Short et al. (1984) and Bockenhauer et al. (2008) (summary by Stanescu et al., 2011 and Tomas et al., 2014).|OMIM|N|
C3553512|Common variable immunodeficiency-8 with autoimmunity is an autosomal recessive disorder of immune dysregulation. Affected individuals have early childhood onset of recurrent infections, particularly respiratory infections, and also develop variable autoimmune disorders, including idiopathic thrombocytopenic purpura, autoimmune hemolytic anemia, and inflammatory bowel disease. The presentation and phenotype are highly variable, even within families (summary by Lopez-Herrera et al., 2012 and Alangari et al., 2012). Immunologic findings are also variable and may include decreased B cells, hypogammaglobulinemia, and deficiency of CD4+ T regulatory (Treg) cells (Charbonnier et al., 2015).
For a general description and a discussion of genetic heterogeneity of common variable immunodeficiency, see CVID1 (607594).|OMIM|N|
C3553517|Cornelia de Lange syndrome (CdLS) encompasses a spectrum of findings from mild to severe. Severe (classic) CdLS is characterized by distinctive facial features, growth restriction (prenatal onset; <5th centile throughout life), hypertrichosis, and upper-limb reduction defects that range from subtle phalangeal abnormalities to oligodactyly (missing digits). Craniofacial features include synophrys, highly arched and/or thick eyebrows, long eyelashes, short nasal bridge with anteverted nares, small widely spaced teeth, and microcephaly. Individuals with a milder phenotype have less severe growth, cognitive, and limb involvement, but often have facial features consistent with CdLS. Across the CdLS spectrum IQ ranges from below 30 to 102 (mean: 53). Many individuals demonstrate autistic and self-destructive tendencies. Other frequent findings include cardiac septal defects, gastrointestinal dysfunction, hearing loss, myopia, and cryptorchidism or hypoplastic genitalia.|GeneReviews|N|
C3553538|Brown-Vialetto-Van Laere syndrome-2 (BVVLS2) is an autosomal recessive progressive neurologic disorder characterized by early childhood onset of sensorineural deafness, bulbar dysfunction, and severe diffuse muscle weakness and wasting of the upper and lower limbs and axial muscles, resulting in respiratory insufficiency. Some patients may lose independent ambulation. Because it results from a defect in riboflavin metabolism, some patients may benefit from high-dose riboflavin supplementation (summary by Johnson et al., 2012; Foley et al., 2014).
For discussion of genetic heterogeneity of Brown-Vialetto-Van Laere syndrome, see BVVLS1 (211530).|OMIM|N|
C3553549|Porokeratosis is a rare skin disorder characterized by one or more annular plaques with a surrounding raised horny border that spreads centrifugally. Variants of porokeratosis have been described that differ in morphologic shapes, distribution, and clinical course (Schamroth et al., 1997). However, as noted by Sybert (2010), several families with expression of more than one variant of porokeratosis among members, and individuals expressing more than one variant, have been reported, suggesting that the distinctions among these variants may be artificial.
Mutations in the MVD gene have been found to cause multiple types of porokeratosis, which have been described as disseminated superficial actinic porokeratosis (DSAP), nonactinic disseminated superficial porokeratosis (DSP), solar facial porokeratosis, linear porokeratosis, and hyperkeratotic porokeratosis.
The preferred title of this entry was formerly 'Porokeratosis 7, Disseminated Superficial Actinic Type; POROK7.'
Disseminated superficial actinic porokeratosis (DSAP) is the most common subtype of porokeratosis. It is characterized by multiple small, annular, anhidrotic, keratotic lesions that are located predominantly on sun-exposed areas of the skin, such as the face, neck, and distal limbs. The lesions typically begin to develop in adolescence and reach near-complete penetrance by the third or fourth decade of life (summary by Wu et al., 2004 and Zhang et al., 2012).
For a discussion of genetic heterogeneity of porokeratosis, see 175800.|OMIM|N|
C3553571|CDG2K is an autosomal recessive disorder with a variable phenotype. Affected individuals show psychomotor retardation and growth retardation, and most have short stature. Other features include dysmorphism, hypotonia, eye abnormalities, acquired microcephaly, hepatomegaly, and skeletal dysplasia. Serum transferrin analysis shows a CDG type II pattern (summary by Foulquier et al., 2012).
For a general discussion of CDGs, see CDG1A (212065) and CDG2A (212066).|OMIM|N|
C3553582|Any Seckel syndrome in which the cause of the disease is a mutation in the CEP63 gene.|MONDO|N|
C3553587|Familial glucocorticoid deficiency is a rare autosomal recessive disorder characterized by an inability of the adrenal cortex to produce cortisol in response to stimulation by adrenocorticotropic hormone (ACTH). Affected individuals typically present within the first few months of life with symptoms related to cortisol deficiency, including failure to thrive, recurrent illnesses or infections, hypoglycemia, convulsions, and shock. The disease is life-threatening if untreated (summary by Meimaridou et al., 2012).
For a discussion of genetic heterogeneity of familial glucocorticoid deficiency, see GCCD1 (202200).|OMIM|N|
C3553606|Any skin basal cell carcinoma in which the cause of the disease is a mutation in the TP53 gene.|MONDO|N|
C3553607|Mitochondrial pyruvate carrier deficiency is an autosomal recessive metabolic disorder characterized by delayed psychomotor development and lactic acidosis with a normal lactate/pyruvate ratio resulting from impaired mitochondrial pyruvate oxidation (summary by Bricker et al., 2012).|OMIM|N|
C3553617|Dyskeratosis congenita and related telomere biology disorders (DC/TBD) are caused by impaired telomere maintenance resulting in short or very short telomeres. The phenotypic spectrum of telomere biology disorders is broad and includes individuals with classic dyskeratosis congenita (DC) as well as those with very short telomeres and an isolated physical finding. Classic DC is characterized by a triad of dysplastic nails, lacy reticular pigmentation of the upper chest and/or neck, and oral leukoplakia, although this may not be present in all individuals. People with DC/TBD are at increased risk for progressive bone marrow failure (BMF), myelodysplastic syndrome or acute myelogenous leukemia, solid tumors (usually squamous cell carcinoma of the head/neck or anogenital cancer), and pulmonary fibrosis. Other findings can include eye abnormalities (epiphora, blepharitis, sparse eyelashes, ectropion, entropion, trichiasis), taurodontism, liver disease, gastrointestinal telangiectasias, and avascular necrosis of the hips or shoulders. Although most persons with DC/TBD have normal psychomotor development and normal neurologic function, significant developmental delay is present in both forms; additional findings include cerebellar hypoplasia (Hoyeraal Hreidarsson syndrome) and bilateral exudative retinopathy and intracranial calcifications (Revesz syndrome and Coats plus syndrome). Onset and progression of manifestations of DC/TBD vary: at the mild end of the spectrum are those who have only minimal physical findings with normal bone marrow function, and at the severe end are those who have the diagnostic triad and early-onset BMF.|GeneReviews|N|
C3553622|Dyskeratosis congenita and related telomere biology disorders (DC/TBD) are caused by impaired telomere maintenance resulting in short or very short telomeres. The phenotypic spectrum of telomere biology disorders is broad and includes individuals with classic dyskeratosis congenita (DC) as well as those with very short telomeres and an isolated physical finding. Classic DC is characterized by a triad of dysplastic nails, lacy reticular pigmentation of the upper chest and/or neck, and oral leukoplakia, although this may not be present in all individuals. People with DC/TBD are at increased risk for progressive bone marrow failure (BMF), myelodysplastic syndrome or acute myelogenous leukemia, solid tumors (usually squamous cell carcinoma of the head/neck or anogenital cancer), and pulmonary fibrosis. Other findings can include eye abnormalities (epiphora, blepharitis, sparse eyelashes, ectropion, entropion, trichiasis), taurodontism, liver disease, gastrointestinal telangiectasias, and avascular necrosis of the hips or shoulders. Although most persons with DC/TBD have normal psychomotor development and normal neurologic function, significant developmental delay is present in both forms; additional findings include cerebellar hypoplasia (Hoyeraal Hreidarsson syndrome) and bilateral exudative retinopathy and intracranial calcifications (Revesz syndrome and Coats plus syndrome). Onset and progression of manifestations of DC/TBD vary: at the mild end of the spectrum are those who have only minimal physical findings with normal bone marrow function, and at the severe end are those who have the diagnostic triad and early-onset BMF.|GeneReviews|N|
C3553625|HCFP3 is an autosomal recessive congenital cranial dysinnervation disorder characterized by isolated dysfunction of the seventh cranial nerve resulting in facial palsy. Additional features may include orofacial anomalies, such as smooth philtrum, lagophthalmos, swallowing difficulties, and dysarthria, as well as hearing loss. There is some phenotypic overlap with Moebius syndrome (see, e.g., 157900), but patients with HCFP usually retain full eye motility or have esotropia without paralysis of the sixth cranial nerve (summary by Vogel et al., 2016).
For a phenotypic description and a discussion of genetic heterogeneity of hereditary congenital facial paresis, see 601471.|OMIM|N|
C3553637|Hyperphosphatasia with impaired intellectual development syndrome-2 (HPMRS2) is an autosomal recessive disorder characterized by moderately to severely delayed psychomotor development, facial dysmorphism, brachytelephalangy, and increased serum alkaline phosphatase (hyperphosphatasia). Some patients may have additional features, such as cardiac septal defects or seizures (summary by Krawitz et al., 2012). The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis.
For a discussion of genetic heterogeneity of hyperphosphatasia with impaired intellectual development syndrome, see HPMRS1 (239300).
For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (610293).|OMIM|N|
C3553645|Congenital myasthenic syndrome-13 (CMS13) is an autosomal recessive neuromuscular disorder characterized by onset of proximal muscle weakness in the first decade. EMG classically shows a decremental response to repeated nerve stimulation. Affected individuals show a favorable response to acetylcholinesterase (AChE) inhibitors (summary by Belaya et al., 2012).
For a discussion of genetic heterogeneity of CMS, see CMS1A (601462).|OMIM|N|
C3553656|Autosomal dominant distal hereditary motor neuronopathy-12 (HMND12) is a neurologic disorder characterized by onset in the first or second decade of distal muscle weakness and atrophy, primarily affecting the intrinsic hand muscles, but also affecting the lower legs, resulting in abnormal gait and pes cavus (summary by Beetz et al., 2012).
For a discussion of genetic heterogeneity of autosomal dominant distal HMN, see HMND1 (182960).|OMIM|N|
C3553660|Malan syndrome (MALNS) is clinically characterized by overgrowth, advanced bone age, macrocephaly, and dysmorphic facial features. Patients develop marfanoid habitus, with long and slender body, very low body mass, long narrow face, and arachnodactyly, with age. Impaired intellectual development and behavior anomalies are present (summary by Martinez et al., 2015).|OMIM|N|
C3553661|Cerebellar dysfunction with variable cognitive and behavioral abnormalities (CECBA) is an autosomal dominant neurologic disorder with significant phenotypic heterogeneity, even within families. The disorder is most often diagnosed through genetic analysis with retrospective clinical phenotyping. Symptom onset is usually in early childhood, although later onset, even in adulthood, has been reported. Most affected individuals show global developmental delay from early childhood, particularly of motor and language skills. Many have mild intellectual disability; behavioral and psychiatric abnormalities such as autism and obsessive-compulsive disorder are also often observed. The movement disorder is prominent and may include cerebellar signs such as ataxia, tremor, dysmetria, poor coordination, and dysarthria. Other abnormal movements including spasticity, myoclonus, and dystonia have been reported, thus widening the phenotypic spectrum. Brain imaging is usually normal, but may show cerebellar atrophy or nonspecific white matter lesions. Variable dysmorphic facial features may also be present (summary by Thevenon et al., 2012; Jacobs et al., 2021; Wijnen et al., 2020).|OMIM|N|
C3553676|Visceral heterotaxy-6 (HTX6) is characterized by dextrocardia with or without accompanying complex cardiovascular defects, as well as variable manifestations of visceral heterotaxy, including situs inversus totalis (Perles et al., 2012).|OMIM|N|
C3553677|Position of the liver across the middle of the body instead of being in its normal position to the right of the stomach.|HPO|N|
C3553704|Abnormally raised arch.|NCI|N|
C3553719|Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the PFN1 gene.|MONDO|N|
C3553720|C3 glomerulopathy-3 (C3G3) is an autosomal dominant kidney disease characterized by the onset of microscopic or macroscopic hematuria in the first 3 decades of life, followed by variable progression of renal disease. After age 30, about half of patients continue to have episodic hematuria while maintaining normal renal function, whereas the other half develop proteinuria and progressive renal failure or end-stage renal disease. In some cases, renal dysfunction may be triggered or exacerbated by an infectious disease, often an upper respiratory infection or pharyngitis. Some patients may also develop hypertension. Renal biopsy shows glomerular C3 deposition and mesangial proliferation with glomerulonephritis. Membranoproliferative glomerulonephritis (MPGN) may also be observed on renal biopsy. Males tend to have a more severe phenotype than females and are more likely to develop end-stage renal disease, often necessitating dialysis or renal transplant (summary by Athanasiou et al., 2011).
For a general description and discussion of genetic heterogeneity of C3G, see C3G1 (609814).|OMIM|N|
C3553722|Increased mesangial extracellular material with interspace width of over 2 mesangial cell nuclei, in one or more peripheral mesangial areas.|HPO|N|
C3553728|Multiple sclerosis-5 (MS5) is a chronic inflammatory disease of the central nervous system characterized by damage to axonal myelin sheaths and axons, commonly resulting in progressive neurologic disability beginning in early adulthood (summary by Xu et al., 2001).
For a discussion of genetic heterogeneity of multiple sclerosis (MS), see MS1 (126200).|OMIM|N|
C3553748|Adams-Oliver syndrome (AOS) is characterized by aplasia cutis congenita (ACC) of the scalp and terminal transverse limb defects (TTLD). ACC lesions usually occur in the midline of the parietal or occipital regions, but can also occur on the abdomen or limbs. At birth, an ACC lesion may already have the appearance of a healed scar. ACC lesions less than 5 cm often involve only the skin and almost always heal over a period of months; larger lesions are more likely to involve the skull and possibly the dura, and are at greater risk for complications, which can include infection, hemorrhage, or thrombosis, and can result in death. The limb defects range from mild (unilateral or bilateral short distal phalanges) to severe (complete absence of all toes or fingers, feet or hands, or more, often resembling an amputation). The lower extremities are almost always more severely affected than the upper extremities. Additional major features frequently include cardiovascular malformations/dysfunction (23%), brain anomalies, and less frequently renal, liver, and eye anomalies.|GeneReviews|N|
C3553754|Aplasia of a toe. That is, absence of all phalanges of a non-hallux digit of the foot and the associated soft tissues.|HPO|N|
C3553758|Classic Joubert syndrome (JS) is characterized by three primary findings: A distinctive cerebellar and brain stem malformation called the molar tooth sign (MTS). Hypotonia. Developmental delays. Often these findings are accompanied by episodic tachypnea or apnea and/or atypical eye movements. In general, the breathing abnormalities improve with age, truncal ataxia develops over time, and acquisition of gross motor milestones is delayed. Cognitive abilities are variable, ranging from severe intellectual disability to normal. Additional findings can include retinal dystrophy, renal disease, ocular colobomas, occipital encephalocele, hepatic fibrosis, polydactyly, oral hamartomas, and endocrine abnormalities. Both intra- and interfamilial variation are seen.|GeneReviews|N|
C3553762|Loeys-Dietz syndrome (LDS) is characterized by vascular findings (cerebral, thoracic, and abdominal arterial aneurysms and/or dissections), skeletal manifestations (pectus excavatum or pectus carinatum, scoliosis, joint laxity, arachnodactyly, talipes equinovarus, cervical spine malformation and/or instability), craniofacial features (widely spaced eyes, strabismus, bifid uvula / cleft palate, and craniosynostosis that can involve any sutures), and cutaneous findings (velvety and translucent skin, easy bruising, and dystrophic scars). Individuals with LDS are predisposed to widespread and aggressive arterial aneurysms and pregnancy-related complications including uterine rupture and death. Individuals with LDS can show a strong predisposition for allergic/inflammatory disease including asthma, eczema, and reactions to food or environmental allergens. There is also an increased incidence of gastrointestinal inflammation including eosinophilic esophagitis and gastritis or inflammatory bowel disease. Wide variation in the distribution and severity of clinical features can be seen in individuals with LDS, even among affected individuals within a family who have the same pathogenic variant.|GeneReviews|N|
C3553774|Karyomegalic tubulointerstitial nephritis (KMIN) is a rare kidney disease characterized clinically by onset in the third decade of progressive renal failure. Renal biopsy shows chronic tubulointerstitial nephritis and interstitial fibrosis associated with enlarged and atypical tubular epithelial cell nuclei (summary by Baba et al., 2006).|OMIM|N|
C3553785|Weill-Marchesani syndrome (WMS) is a connective tissue disorder characterized by abnormalities of the lens of the eye, short stature, brachydactyly, joint stiffness, and cardiovascular defects. The ocular problems, typically recognized in childhood, include microspherophakia (small spherical lens), myopia secondary to the abnormal shape of the lens, ectopia lentis (abnormal position of the lens), and glaucoma, which can lead to blindness. Height of adult males is 142-169 cm; height of adult females is 130-157 cm. Autosomal recessive WMS cannot be distinguished from autosomal dominant WMS by clinical findings alone.|GeneReviews|N|
C3553788|ATP1A3-related neurologic disorders represent a clinical continuum in which at least three distinct phenotypes have been delineated: rapid-onset dystonia-parkinsonism (RDP); alternating hemiplegia of childhood (ACH); and cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS). However, some affected individuals have intermediate phenotypes or only a few features that do not fit well into one of these major phenotypes. RDP has been characterized by: abrupt onset of dystonia over days to weeks with parkinsonism (primarily bradykinesia and postural instability); common bulbar involvement; and absence or minimal response to an adequate trial of L-dopa therapy, with few exceptions. Often fever, physiologic stress, or alcoholic binges trigger the onset of symptoms. After their initial appearance, symptoms often stabilize with little improvement; occasionally second episodes occur with abrupt worsening of symptoms. Rarely, affected individuals have reported a more gradual onset of symptoms over weeks to months. Anxiety, depression, and seizures have been reported. Age of onset ranges from four to 55 years, although a childhood variation of RDP with onset between ages nine and 14 months has been reported. AHC is a complex neurodevelopmental syndrome most frequently manifesting in infancy or early childhood with paroxysmal episodic neurologic dysfunction including alternating hemiparesis or dystonia, quadriparesis, seizure-like episodes, and oculomotor abnormalities. Episodes can last for minutes, hours, days, or even weeks. Remission of symptoms occurs with sleep and immediately after awakening. Over time, persistent neurologic deficits including oculomotor apraxia, ataxia, choreoathetosis, dystonia, parkinsonism, and cognitive and behavioral dysfunction develop in the majority of those affected; more than 50% develop epilepsy in addition to their episodic movement disorder phenotype. CAPOS (cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss) syndrome is characterized by episodes of ataxic encephalopathy and/or weakness during and after a febrile illness. Onset is between ages six months and four years. Some acute symptoms resolve; progression of sensory losses and severity vary.|GeneReviews|N|
C3553793|Spermatogenic failure-10 (SPGF10) is associated with a defective annulus, a ring structure that demarcates the midpiece and the principal piece of the sperm tail. The firm attachment of the annulus to the flagellar membrane suggests that it may supply mechanical support and prevent displacement of the caudal mitochondrial helix (summary by Kuo et al., 2012).
For a discussion of phenotypic and genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).|OMIM|N|
C3553794|A male infertility characterized by dirsuption of the process of sperm development from diploid cells into mature haploid spermatozoa.|MONDO|N|
C3553801|Autosomal dominant congenital nystagmus-7 (NYS7) is characterized by horizontal pendular nystagmus present from infancy. The cornea, iris, lens, and retina are normal (Xiao et al., 2012, Li et al., 2012).
Classic congenital or infantile nystagmus presents as conjugate, horizontal oscillations of the eyes, in primary or eccentric gaze, often with a preferred head turn or tilt. Other associated features may include mildly decreased visual acuity, strabismus, astigmatism, and occasionally head nodding. Eye movement recordings reveal that infantile nystagmus is predominantly a horizontal jerk waveform, with a diagnostic accelerating velocity slow phase. However, pendular and triangular waveforms may also be present. The nystagmus may rarely be vertical. As these patients often have normal visual acuity, it is presumed that the nystagmus represents a primary defect in the parts of the brain responsible for ocular motor control; thus the disorder has sometimes been termed 'congenital motor nystagmus' (Tarpey et al., 2006; Shiels et al., 2007).
For a discussion of genetic heterogeneity of congenital nystagmus, see NYS1 (310700).|OMIM|N|
C3553813|Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. The phenotype includes the alternative clinical designation Walker-Warburg syndrome (WWS). The disorder represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1; 128239), collectively known as 'dystroglycanopathies' (summary by Manzini et al., 2012).
For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (236670).|OMIM|N|
C3553816|Autosomal recessive spinocerebellar ataxia-13 (SCAR13) is an autosomal recessive neurologic disorder characterized by delayed psychomotor development beginning in infancy. Affected individuals show mildly to profoundly impaired intellectual development with poor or absent speech as well as gait and stance ataxia and hyperreflexia. Most individuals also have eye movement abnormalities. Brain MRI shows cerebellar atrophy and ventriculomegaly (Guergueltcheva et al., 2012).|OMIM|N|
C3553830|Any amelogenesis imperfecta in which the cause of the disease is a mutation in the ODAPH gene.|MONDO|N|
C3553831|A rare genetic neurodevelopmental disorder with primordial microcephaly, with characteristics of primary microcephaly, moderate to severe intellectual disability and global developmental delay. Variable brain malformations are common ranging from simplified gyration, to cortical malformations such as pachygyria, polymicrogyria, reduced sulcation and midline defects. Craniofacial dysmorphism (e.g. sloping forehead, high and broad nasal bridge) are related to the primary microcephaly. Short stature is frequently observed, and may be severe. Germline biallelic variants in RTTN (18q22.2) are responsible for the disease. The pattern of inheritance is autosomal recessive.|SNOMEDCT_US|N|
C3553840|Human herpesvirus-8 (HHV-8) is the etiologic agent of Kaposi sarcoma, primary effusion lymphoma, and some forms of multicentric Castleman disease (Pedergnana et al., 2012). See 148000 for general phenotypic information on these diseases, as well as information on HHV-8-associated pathogenesis.|OMIM|N|
C3553841|Isolated gonadotropin-releasing hormone (GnRH) deficiency (IGD) is characterized by inappropriately low serum concentrations of the gonadotropins LH (luteinizing hormone) and FSH (follicle-stimulating hormone) in the presence of low circulating concentrations of sex steroids. IGD is associated with a normal sense of smell (normosmic IGD) in approximately 40% of affected individuals and an impaired sense of smell (Kallmann syndrome) in approximately 60%. IGD can first become apparent in infancy, adolescence, or adulthood. Infant boys with congenital IGD often have micropenis and cryptorchidism. Adolescents and adults with IGD have clinical evidence of hypogonadism and incomplete sexual maturation on physical examination. Adult males with IGD tend to have prepubertal testicular volume (i.e., <4 mL), absence of secondary sexual features (e.g., facial and axillary hair growth, deepening of the voice), decreased muscle mass, diminished libido, erectile dysfunction, and infertility. Adult females have little or no breast development and primary amenorrhea. Although skeletal maturation is delayed, the rate of linear growth is usually normal except for the absence of a distinct pubertal growth spurt.|GeneReviews|N|
C3553842|Isolated gonadotropin-releasing hormone (GnRH) deficiency (IGD) is characterized by inappropriately low serum concentrations of the gonadotropins LH (luteinizing hormone) and FSH (follicle-stimulating hormone) in the presence of low circulating concentrations of sex steroids. IGD is associated with a normal sense of smell (normosmic IGD) in approximately 40% of affected individuals and an impaired sense of smell (Kallmann syndrome) in approximately 60%. IGD can first become apparent in infancy, adolescence, or adulthood. Infant boys with congenital IGD often have micropenis and cryptorchidism. Adolescents and adults with IGD have clinical evidence of hypogonadism and incomplete sexual maturation on physical examination. Adult males with IGD tend to have prepubertal testicular volume (i.e., <4 mL), absence of secondary sexual features (e.g., facial and axillary hair growth, deepening of the voice), decreased muscle mass, diminished libido, erectile dysfunction, and infertility. Adult females have little or no breast development and primary amenorrhea. Although skeletal maturation is delayed, the rate of linear growth is usually normal except for the absence of a distinct pubertal growth spurt.|GeneReviews|N|
C3553843|Isolated gonadotropin-releasing hormone (GnRH) deficiency (IGD) is characterized by inappropriately low serum concentrations of the gonadotropins LH (luteinizing hormone) and FSH (follicle-stimulating hormone) in the presence of low circulating concentrations of sex steroids. IGD is associated with a normal sense of smell (normosmic IGD) in approximately 40% of affected individuals and an impaired sense of smell (Kallmann syndrome) in approximately 60%. IGD can first become apparent in infancy, adolescence, or adulthood. Infant boys with congenital IGD often have micropenis and cryptorchidism. Adolescents and adults with IGD have clinical evidence of hypogonadism and incomplete sexual maturation on physical examination. Adult males with IGD tend to have prepubertal testicular volume (i.e., <4 mL), absence of secondary sexual features (e.g., facial and axillary hair growth, deepening of the voice), decreased muscle mass, diminished libido, erectile dysfunction, and infertility. Adult females have little or no breast development and primary amenorrhea. Although skeletal maturation is delayed, the rate of linear growth is usually normal except for the absence of a distinct pubertal growth spurt.|GeneReviews|N|
C3553844|Isolated gonadotropin-releasing hormone (GnRH) deficiency (IGD) is characterized by inappropriately low serum concentrations of the gonadotropins LH (luteinizing hormone) and FSH (follicle-stimulating hormone) in the presence of low circulating concentrations of sex steroids. IGD is associated with a normal sense of smell (normosmic IGD) in approximately 40% of affected individuals and an impaired sense of smell (Kallmann syndrome) in approximately 60%. IGD can first become apparent in infancy, adolescence, or adulthood. Infant boys with congenital IGD often have micropenis and cryptorchidism. Adolescents and adults with IGD have clinical evidence of hypogonadism and incomplete sexual maturation on physical examination. Adult males with IGD tend to have prepubertal testicular volume (i.e., <4 mL), absence of secondary sexual features (e.g., facial and axillary hair growth, deepening of the voice), decreased muscle mass, diminished libido, erectile dysfunction, and infertility. Adult females have little or no breast development and primary amenorrhea. Although skeletal maturation is delayed, the rate of linear growth is usually normal except for the absence of a distinct pubertal growth spurt.|GeneReviews|N|
C3553868|A Mendelian susceptibility or predisposition to herpes simplex infection induced encephalitis in which the cause of the diseas is a mutation in the TRAF3 gene.|MONDO|N|
C3553869|A Mendelian susceptibility or predisposition to herpes simplex infection induced encephalitis in which the cause of the diseas is a mutation in the TICAM1 gene.|MONDO|N|
C3553870|Microcephalic primordial dwarfism, Dauber type is a rare, genetic developmental defect during embryogenesis characterized by severe pre- and postnatal growth retardation, severe microcephaly, severe developmental delay and intelletual disability, severe adult short stature and facial dysmorphism (incl. hypotelorism, small ears, prominent nose). Other reported features include skeletal anomalies (Madelung deformity, clinodactyly, mild lumbar scoliosis, bilateral hip dysplasia) and seizures. Absence of thelarche and menarche is also associated.|ORDO|N|
C3553886|Primary microcephaly (MCPH) is a clinical diagnosis made when an individual has a head circumference more than 3 standard deviations below the age- and sex-matched population mean and mental retardation, with no other associated malformations and with no apparent etiology. Most cases of primary microcephaly show an autosomal recessive mode of inheritance (Woods et al., 2005).
For a general phenotypic description and a discussion of genetic heterogeneity of primary microcephaly, see MCPH1 (251200).|OMIM|N|
C3553887|Osteogenesis imperfecta (OI) is a connective tissue disorder characterized by bone fragility and low bone mass. Due to considerable phenotypic variability, Sillence et al. (1979) developed a classification of OI subtypes based on clinical features and disease severity: OI type I, with blue sclerae (166200); perinatal lethal OI type II, also known as congenital OI (166210); OI type III, a progressively deforming form with normal sclerae (259420); and OI type IV, with normal sclerae (166220). Most cases of OI are autosomal dominant with mutations in 1 of the 2 genes that code for type I collagen alpha chains, COL1A1 (120150) and COL1A2 (120160). Martinez-Glez et al. (2012) described osteogenesis imperfecta type XIII, an autosomal recessive form of the disorder characterized by normal teeth, faint blue sclerae, severe growth deficiency, borderline osteoporosis, and an average of 10 to 15 fractures a year affecting both upper and lower limbs and with severe bone deformity.|OMIM|N|
C3553900|The presence of extra bones within a cranial suture. Wormian bones are irregular isolated bones which appear in addition to the usual centers of ossification of the cranium.|HPO|N|
C3553915|Combined methylmalonic aciduria (MMA) and homocystinuria is a genetically heterogeneous metabolic disorder of cobalamin (cbl; vitamin B12) metabolism, which is essential for hematologic and neurologic function. Biochemically, the defect causes decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl), which results in decreased activity of the respective enzymes methylmalonyl-CoA mutase (MUT; 609058) and methyltetrahydrofolate:homocysteine methyltransferase, also known as methionine synthase (MTR; 156570). The cblJ type is phenotypically and biochemically similar to the cblF type (MAHCF; 277380) (summary by Coelho et al., 2012).|OMIM|N|
C3553929|The peroxisomal biogenesis disorder (PBD) Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by Steinberg et al., 2006).
For a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see 214100.
Individuals with PBDs of complementation group 3 (CG3) have mutations in the PEX12 gene. For information on the history of PBD complementation groups, see 214100.|OMIM|N|
C3553932|This form of autosomal recessive nonsyndromic deafness is sensorineural and shows prelingual onset (Delmaghani et al., 2012).|OMIM|N|
C3553936|The peroxisomal biogenesis disorder (PBD) Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by Steinberg et al., 2006).
For a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see 214100.
Individuals with PBDs of complementation group 4 (CG4, equivalent to CG6 and CGC) have mutations in the PEX6 gene. For information on the history of PBD complementation groups, see 214100.|OMIM|N|
C3553937|Peroxisome biogenesis disorder-4B (PBD4B) includes the overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD), which represent milder manifestations of the Zellweger syndrome spectrum (ZSS) of peroxisome biogenesis disorders (PBDs). The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy, and visual impairment. Children with the NALD presentation may reach their teens, and those with the IRD presentation may reach adulthood (summary by Waterham and Ebberink, 2012).
For a complete phenotypic description and a discussion of genetic heterogeneity of PBD(NALD/IRD), see 601539.
Individuals with mutations in the PEX6 gene have cells of complementation group 4 (CG4, equivalent to CG6 and CGC). For information on the history of PBD complementation groups, see 214100.|OMIM|N|
C3553940|The peroxisomal biogenesis disorder (PBD) Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by Steinberg et al., 2006).
For a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see 214100.
Individuals with PBDs of complementation group 5 (CG5, equivalent to CG10 and CGF) have mutations in the PEX2 gene. For information on the history of PBD complementation groups, see 214100.|OMIM|N|
C3553943|Immunodeficiency-110 (IMD110) is an autosomal recessive primary T-cell immunodeficiency syndrome characterized by progressive loss of naive T cells, recurrent bacterial, viral, and fungal infections, warts, and abscesses, and autoimmune manifestations. Patients are at risk for developing lymphoproliferative disorders or lymphoma, particularly associated with EBV. Some patients may show cardiac malformations, including atrial septal defect (Abdollahpour et al., 2012; Nehme et al., 2012).|OMIM|N|
C3553944|Usher syndrome type I (USH1) is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa (RP). Unless fitted with a cochlear implant, individuals do not typically develop speech. RP, a progressive, bilateral, symmetric degeneration of rod and cone functions of the retina, develops in adolescence, resulting in progressively constricted visual fields and impaired visual acuity.|GeneReviews|N|
C3553947|Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by Steinberg et al., 2006).
For a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see 214100.
Individuals with PBDs of complementation group 7 (CG7, equivalent to CGB) have mutations in the PEX10 gene. For information on the history of PBD complementation groups, see 214100.|OMIM|N|
C3553948|The overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) represent the milder manifestations of the Zellweger syndrome spectrum (ZSS) of peroxisome biogenesis disorders. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy, and visual impairment. Children with the NALD presentation may reach their teens, and those with the IRD presentation may reach adulthood. Some patients with PEX10 mutations have a milder disorder characterized by childhood-onset cerebellar ataxia and neuropathy without mental retardation (summary by Waterham and Ebberink, 2012).
For a complete phenotypic description and a discussion of genetic heterogeneity of PBD(NALD/IRD), see 601539.
Individuals with mutations in the PEX10 gene have cells of complementation group 7 (CG7, equivalent to CGB). For information on the history of PBD complementation groups, see 214100.|OMIM|N|
C3553951|The overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) represent the milder manifestations of the Zellweger syndrome spectrum (ZSS) of peroxisome biogenesis disorders. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy, and visual impairment. Children with the NALD presentation may reach their teens, and those with the IRD presentation may reach adulthood (summary by Waterham and Ebberink, 2012).
For a complete phenotypic description and a discussion of genetic heterogeneity of PBD(NALD/IRD), see 601539.
Individuals with mutations in the PEX26 gene have cells of complementation group 8 (CG8, equivalent to CGA). For information on the history of PBD complementation groups, see 214100.|OMIM|N|
C3553958|Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria is an extremely rare genetic disorder characterized by the unique association of enchondromatosis with D-2 hydroxyglutaric aciduria (see these terms). Clinical features include enchondromatosis (with short stature, severe metaphyseal dysplasia and mild vertebral involvement), elevated levels of urinary 2-hydroxyglutaric acid and mild developmental delay.|ORDO|N|
C3553959|Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by Steinberg et al., 2006).
For a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see 214100.
Individuals with PBDs of complementation group 9 (CG9, equivalent to CGD) have mutations in the PEX16 gene. For information on the history of PBD complementation groups, see 214100.|OMIM|N|
C3553960|The overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) represent the milder manifestations of the Zellweger syndrome spectrum (ZSS) of peroxisome biogenesis disorders. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy, and visual impairment. Children with the NALD presentation may reach their teens, and those with the IRD presentation may reach adulthood (summary by Waterham and Ebberink, 2012).
For a complete phenotypic description and a discussion of genetic heterogeneity of PBD(NALD/IRD), see 601539.
Individuals with mutations in the PEX16 gene have cells of complementation group 9 (CG9, equivalent to CGD). For information on the history of PBD complementation groups, see 214100.|OMIM|N|
C3553961|Autoinflammation, antibody deficiency, and immune dysregulation (APLAID) is an autosomal dominant systemic disorder characterized by recurrent blistering skin lesions with a dense inflammatory infiltrate and variable involvement of other tissues, including joints, the eye, and the gastrointestinal tract. Affected individuals have a mild humoral immune deficiency associated with recurrent sinopulmonary infections, but no evidence of circulating autoantibodies (summary by Zhou et al., 2012).|OMIM|N|
C3553977|Isolated gonadotropin-releasing hormone (GnRH) deficiency (IGD) is characterized by inappropriately low serum concentrations of the gonadotropins LH (luteinizing hormone) and FSH (follicle-stimulating hormone) in the presence of low circulating concentrations of sex steroids. IGD is associated with a normal sense of smell (normosmic IGD) in approximately 40% of affected individuals and an impaired sense of smell (Kallmann syndrome) in approximately 60%. IGD can first become apparent in infancy, adolescence, or adulthood. Infant boys with congenital IGD often have micropenis and cryptorchidism. Adolescents and adults with IGD have clinical evidence of hypogonadism and incomplete sexual maturation on physical examination. Adult males with IGD tend to have prepubertal testicular volume (i.e., <4 mL), absence of secondary sexual features (e.g., facial and axillary hair growth, deepening of the voice), decreased muscle mass, diminished libido, erectile dysfunction, and infertility. Adult females have little or no breast development and primary amenorrhea. Although skeletal maturation is delayed, the rate of linear growth is usually normal except for the absence of a distinct pubertal growth spurt.|GeneReviews|N|
C3553999|Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by Steinberg et al., 2006).
For a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see 214100.
Individuals with PBDs of complementation group 12 (CG12, equivalent to CGG) have mutations in the PEX3 gene. For information on the history of PBD complementation groups, see 214100.|OMIM|N|
C3554000|Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by Steinberg et al., 2006).
For a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see 214100.
Individuals with PBDs of complementation group 13 (CG13, equivalent to CGH) have mutations in the PEX13 gene. For information on the history of PBD complementation groups, see 214100.|OMIM|N|
C3554001|The overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) represent the milder manifestations of the Zellweger syndrome spectrum (ZSS) of peroxisome biogenesis disorders. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy, and visual impairment. Children with the NALD presentation may reach their teens, and those with the IRD presentation may reach adulthood (summary by Waterham and Ebberink, 2012).
For a complete phenotypic description and a discussion of genetic heterogeneity of PBD(NALD/IRD), see 601539.
Individuals with mutations in the PEX13 gene have cells of complementation group 13 (CG13, equivalent to CGH). For information on the history of PBD complementation groups, see 214100.|OMIM|N|
C3554002|Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by Steinberg et al., 2006).
For a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see 214100.
Individuals with PBDs of complementation group 14 (CG14, equivalent to CGJ) have mutations in the PEX19 gene. For information on the history of PBD complementation groups, see 214100.|OMIM|N|
C3554004|Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by Steinberg et al., 2006).
For a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see 214100.
Individuals with PBDs of complementation group K (CGK) have mutations in the PEX14 gene. For information on the history of PBD complementation groups, see 214100.|OMIM|N|
C3554018|Patients with sinoatrial node dysfunction and deafness have congenital severe to profound deafness without vestibular dysfunction, associated with episodic syncope due to intermittent pronounced bradycardia (Baig et al., 2011).
See Jervell and Lange-Nielsen syndrome (220400) for discussion of another deafness syndrome with impaired cardiac conduction.|OMIM|N|
C3554021|Isolated gonadotropin-releasing hormone (GnRH) deficiency (IGD) is characterized by inappropriately low serum concentrations of the gonadotropins LH (luteinizing hormone) and FSH (follicle-stimulating hormone) in the presence of low circulating concentrations of sex steroids. IGD is associated with a normal sense of smell (normosmic IGD) in approximately 40% of affected individuals and an impaired sense of smell (Kallmann syndrome) in approximately 60%. IGD can first become apparent in infancy, adolescence, or adulthood. Infant boys with congenital IGD often have micropenis and cryptorchidism. Adolescents and adults with IGD have clinical evidence of hypogonadism and incomplete sexual maturation on physical examination. Adult males with IGD tend to have prepubertal testicular volume (i.e., <4 mL), absence of secondary sexual features (e.g., facial and axillary hair growth, deepening of the voice), decreased muscle mass, diminished libido, erectile dysfunction, and infertility. Adult females have little or no breast development and primary amenorrhea. Although skeletal maturation is delayed, the rate of linear growth is usually normal except for the absence of a distinct pubertal growth spurt.|GeneReviews|N|
C3554042|Diamond-Blackfan anemia (DBA) is characterized by a profound normochromic and usually macrocytic anemia with normal leukocytes and platelets, congenital malformations in up to 50%, and growth deficiency in 30% of affected individuals. The hematologic complications occur in 90% of affected individuals during the first year of life. The phenotypic spectrum ranges from a mild form (e.g., mild anemia or no anemia with only subtle erythroid abnormalities, physical malformations without anemia) to a severe form of fetal anemia resulting in nonimmune hydrops fetalis. DBA is associated with an increased risk for acute myelogenous leukemia (AML), myelodysplastic syndrome (MDS), and solid tumors including osteogenic sarcoma.|GeneReviews|N|
C3554046|Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the MYBPC1 gene.|MONDO|N|
C3554047|Catecholaminergic polymorphic ventricular tachycardia (CPVT) is characterized by episodic syncope occurring during exercise or acute emotion. The underlying cause of these episodes is the onset of fast ventricular tachycardia (bidirectional or polymorphic). Spontaneous recovery may occur when these arrhythmias self-terminate. In other instances, ventricular tachycardia may degenerate into ventricular fibrillation and cause sudden death if cardiopulmonary resuscitation is not readily available. The mean onset of symptoms (usually a syncopal episode) is between age seven and 12 years; onset as late as the fourth decade of life has been reported. If untreated, CPVT is highly lethal, as approximately 30% of affected individuals experience at least one cardiac arrest and up to 80% have one or more syncopal spells. Sudden death may be the first manifestation of the disease.|GeneReviews|N|
C3554055|PBD14B is an autosomal recessive peroxisome biogenesis disorder characterized clinically by mild intellectual disability, congenital cataracts, progressive hearing loss, and polyneuropathy (Ebberink et al., 2012), all of which had been observed in patients with mild peroxisomal biogenesis disorders (e.g., Kelley et al., 1986; Poll-The et al., 1987). Additionally, recurrent migraine-like episodes following mental stress or physical exertion, not a common feature in peroxisome disorders, was reported.
Thoms and Gartner (2012) classified the disorder described by Ebberink et al. (2012) in their patient as a mild 'Zellweger syndrome (214100) spectrum' (ZSS) disorder. See PBD1B (601539) for a phenotypic description and discussion of genetic heterogeneity of less severe phenotypes on the Zellweger syndrome spectrum. See PBD9B (614879) for another atypical peroxisome biogenesis disorder.|OMIM|N|
C3554078|Branched-chain ketoacid dehydrogenase kinase deficiency (BCKDKD) is a neurodevelopmental disorder characterized by autism, impaired intellectual development, and microcephaly (Tangeraas et al., 2023).|OMIM|N|
C3554105|Perrault syndrome is characterized by sensorineural hearing loss (SNHL) in males and females and ovarian dysfunction in females. SNHL is bilateral and ranges from profound with prelingual (congenital) onset to moderate with early-childhood onset. When onset is in early childhood, hearing loss can be progressive. Ovarian dysfunction ranges from gonadal dysgenesis (absent or streak gonads) manifesting as primary amenorrhea to primary ovarian insufficiency (POI) defined as cessation of menses before age 40 years. Fertility in affected males is reported as normal (although the number of reported males is limited). Neurologic features described in some individuals with Perrault syndrome include learning difficulties and developmental delay, cerebellar ataxia, and motor and sensory peripheral neuropathy.|GeneReviews|N|
C3554108|Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings. Ectodermal dysplasia of the hair/nail type is a rare congenital condition characterized by hypotrichosis and nail dystrophy without nonectodermal or other ectodermal manifestations.|OMIM|N|
C3554111|Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings. Ectodermal dysplasia of the hair/nail type is a rare congenital condition characterized by hypotrichosis and nail dystrophy without nonectodermal or other ectodermal manifestations.|OMIM|N|
C3554113|Toenail that appears thin when viewed on end.|HPO|N|
C3554117|Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings. Ectodermal dysplasia of the hair/nail type is a rare congenital condition characterized by hypotrichosis and nail dystrophy without nonectodermal or other ectodermal manifestations.|OMIM|N|
C3554127|Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings.
Ectodermal dysplasia of the hair/nail type is a rare congenital condition characterized by hypotrichosis and nail dystrophy without nonectodermal or other ectodermal manifestations. Hypotrichosis usually occurs after birth with varying degrees of severity, ranging from mild hair loss to complete atrichia, including the loss of scalp hair, beard, eyebrows, eyelashes, axillary hair, and pubic hair. Nail dystrophy affects all 20 digits by causing short fragile nails or spoon nails (koilonychia) (summary by Lin et al., 2012).|OMIM|N|
C3554159|Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the OTOGL gene.|MONDO|N|
C3554163|Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the OTOG gene.|MONDO|N|
C3554194|Multiple types of congenital heart defects-3 (CHTD3) is an autosomal dominant condition characterized by various types of congenital heart defects and low atrial rhythm (van de Meerakker et al., 2011).
For a general phenotypic description and a discussion of genetic heterogeneity of multiple types of congenital heart defects, see 306955.|OMIM|N|
C3554195|KCNT1-related epilepsy is most often associated with two phenotypes: epilepsy of infancy with migrating focal seizures (EIMFS) and autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE). EIMFS is characterized by seizures, typically focal and asynchronous, beginning in the first six months of life with associated developmental plateau or regression. Autonomic manifestations (e.g., perioral cyanosis, flushing, apnea) are common. Seizures are intractable to multiple anticonvulsants and progress to become nearly continuous by age six to nine months. ADNFLE is characterized by clusters of nocturnal motor seizures that vary from simple arousals to hyperkinetic events with tonic or dystonic features. Individuals with KCNT1-related ADNFLE are more likely to develop seizures at a younger age, have cognitive comorbidity, and display psychiatric and behavioral problems than individuals with ADNFLE resulting from other causes. Less common seizure phenotypes in individuals with KCNT1-related epilepsy include West syndrome, Ohtahara syndrome, early myoclonic encephalopathy, leukodystrophy and/or leukoencephalopathy, focal epilepsy, and multifocal epilepsy. Additional neurologic features include hypotonia, microcephaly developing by age 12 months, strabismus, profound developmental delay, and additional movement disorders. Other systemic manifestations including pulmonary hemorrhage caused by prominent systemic-to-pulmonary collateral arteries or cardiac arrhythmia have been reported.|GeneReviews|N|
C3554209|Pontocerebellar hypoplasia type 8 is an autosomal recessive neurodevelopmental disorder characterized by severe psychomotor retardation, abnormal movements, hypotonia, spasticity, and variable visual defects. Brain MRI shows pontocerebellar hypoplasia, decreased cerebral white matter, and a thin corpus callosum (summary by Mochida et al., 2012).
For a general phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1 (607596).|OMIM|N|
C3554224|Leptin deficiency or dysfunction (LEPD) is characterized by severe early-onset obesity, hyperphagia, hypogonadotropic hypogonadism, and neuroendocrine/metabolic dysfunction (Ozata et al., 1999).|OMIM|N|
C3554225|Leptin receptor deficiency is characterized by severe early-onset obesity, major hyperphagia, hypogonadotropic hypogonadism, and neuroendocrine/metabolic dysfunction (summary by Dehghani et al., 2018).|OMIM|N|
C3554226|Pontocerebellar hypoplasia type 7 (PCH7) is a severe neurologic condition characterized by delayed psychomotor development, hypotonia, breathing abnormalities, and gonadal abnormalities (summary by Anderson et al., 2011).
For a general phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1 (607596).|OMIM|N|
C3554235|Classic Joubert syndrome (JS) is characterized by three primary findings: A distinctive cerebellar and brain stem malformation called the molar tooth sign (MTS). Hypotonia. Developmental delays. Often these findings are accompanied by episodic tachypnea or apnea and/or atypical eye movements. In general, the breathing abnormalities improve with age, truncal ataxia develops over time, and acquisition of gross motor milestones is delayed. Cognitive abilities are variable, ranging from severe intellectual disability to normal. Additional findings can include retinal dystrophy, renal disease, ocular colobomas, occipital encephalocele, hepatic fibrosis, polydactyly, oral hamartomas, and endocrine abnormalities. Both intra- and interfamilial variation are seen.|GeneReviews|N|
C3554241|Intrahepatic cholestasis of pregnancy is a reversible form of cholestasis that occurs most often in the third trimester of pregnancy and recurs in 45 to 70% of subsequent pregnancies. Symptoms include pruritus, jaundice, increased serum bile salts, and abnormal liver enzymes, all of which resolve rapidly after delivery. However, the condition is associated with fetal complications, including placental insufficiency, premature labor, fetal distress, and intrauterine death. Women with ICP are also susceptible to oral contraceptive-induced cholestasis (OCIC). Ursodeoxycholic acid (UDCA) is an effective treatment for conditions caused by ABCB4 mutations (summary by Pasmant et al., 2012).
Mutation in the ABCB4 gene accounts for about 15% of ICP cases (summary by Ziol et al., 2008).
For a discussion of genetic heterogeneity of ICP, see ICP1 (147480).|OMIM|N|
C3554245|The focal dermal dysplasias (FFDDs) are a group of related developmental defects characterized by bitemporal or preauricular skin lesions resembling aplasia cutis congenita. FFFD2 is an autosomal dominant disorder characterized by bitemporal skin lesions with variable facial findings, including thin and puckered periorbital skin, distichiasis and/or absent eyelashes, upslanting palpebral fissures, a flat nasal bridge with a broad nasal tip, large lips, and redundant facial skin. FFDD3 (227260) is characterized by the same facial features as FFDD2, but the inheritance is autosomal recessive (summary by Slavotinek et al., 2013).
For a classification and a discussion of genetic heterogeneity of FFDD, see FFDD1 (136500).|OMIM|N|
C3554246|The focal dermal dysplasias (FFDDs) are a group of related developmental defects characterized by bitemporal or preauricular skin lesions resembling aplasia cutis congenita. FFDD4 is characterized by isolated, preauricular skin lesions (summary by Slavotinek et al., 2013).
For a classification and a discussion of genetic heterogeneity of FFDD, see FFDD1 (136500).|OMIM|N|
C3554247|Carpenter syndrome-2 (CRPT2) is an autosomal recessive multiple congenital malformation disorder characterized by multisuture craniosynostosis and polysyndactyly of the hands and feet, in association with abnormal left-right patterning and other features, most commonly obesity, umbilical hernia, cryptorchidism, and congenital heart disease (summary by Twigg et al., 2012).
For a discussion of genetic heterogeneity of Carpenter syndrome, see 201000.|OMIM|N|
C3554279|Multiple types of congenital heart defects-2  (CHTD2) is characterized by variable congenital heart defects, primarily involving the valves, but also including septal defects or aneurysms, and complex defects such as tetralogy of Fallot. Dilated cardiomyopathy and myocardial noncompaction have been reported in some patients. In addition, some affected individuals exhibit facial dysmorphism and features of connective tissue disease (Thienpont et al., 2010; Ackerman et al., 2016; Ritelli et al., 2018).
For a discussion of genetic heterogeneity of CHTD, see 306955.|OMIM|N|
C3554306|Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is characterized by clusters of nocturnal motor seizures, which are often stereotyped and brief (5 seconds to 5 minutes). They vary from simple arousals from sleep to dramatic, often bizarre hyperkinetic events with tonic or dystonic features. Affected individuals may experience aura. Retained awareness during seizures is common. A minority of individuals experience daytime seizures. Onset ranges from infancy to adulthood. About 80% of individuals develop ADNFLE in the first two decades of life; mean age of onset is ten years. Clinical neurologic examination is normal and intellect is usually preserved, but reduced intellect, psychiatric comorbidity, or cognitive deficits may occur. Within a family, the manifestations of the disorder may vary considerably. ADNFLE is lifelong but not progressive. As an individual reaches middle age, attacks may become milder and less frequent.|GeneReviews|N|
C3554321|Primary familial brain calcification (PFBC) is a neurodegenerative disorder with characteristic calcium deposits in the basal ganglia and other brain areas visualized on neuroimaging. Most affected individuals are in good health during childhood and young adulthood and typically present in the fourth to fifth decade with a gradually progressive movement disorder and neuropsychiatric symptoms. The movement disorder first manifests as clumsiness, fatigability, unsteady gait, slow or slurred speech, dysphagia, involuntary movements, or muscle cramping. Neuropsychiatric symptoms, often the first or most prominent manifestations, range from mild difficulty with concentration and memory to changes in personality and/or behavior, to psychosis and dementia. Seizures of various types occur frequently, some individuals experience chronic headache and vertigo; urinary urgency or incontinence may be present.|GeneReviews|N|
C3554330|C3 glomerulopathy (C3G) is a complex ultra-rare complement-mediated renal disease caused by uncontrolled activation of the complement alternative pathway (AP) in the fluid phase (as opposed to cell surface) that is rarely inherited in a simple mendelian fashion. C3G affects individuals of all ages, with a median age at diagnosis of 23 years. Individuals with C3G typically present with hematuria, proteinuria, hematuria and proteinuria, acute nephritic syndrome or nephrotic syndrome, and low levels of the complement component C3. Spontaneous remission of C3G is uncommon, and about half of affected individuals develop end-stage renal disease (ESRD) within ten years of diagnosis, occasionally developing the late comorbidity of impaired visual acuity.|GeneReviews|N|
C3554343|PACS1 neurodevelopmental disorder (PACS1-NDD) is characterized by mild-to-severe neurodevelopmental delays. Language skills are more severely affected than motor skills. Hypotonia is reported in about a third of individuals and is noted to improve over time. Approximately 60% of individuals are ambulatory. Feeding difficulty is common, with 25% requiring gastrostomy tube to maintain appropriate caloric intake. Other common features include constipation, seizures, behavioral issues, congenital heart anomalies, short stature, and microcephaly. Common facial features include hypertelorism, downslanting palpebral fissures, bulbous nasal tip, low-set and simple ears, smooth philtrum, wide mouth with downturned corners, thin upper vermilion, and wide-spaced teeth. To date approximately 35 individuals with PACS1-NDD have been reported.|GeneReviews|N|
C3554344|Phosphohydroxylysinuria (PHLU) is characterized by elevated phosphohydroxylysine in the urine. There is no clinical phenotype associated with this finding other than the urinary metabolites. This was confirmed by population genetic studies performed by Veiga-da-Cunha et al. (2013) (Hamosh, 2013).|OMIM|N|
C3554348|Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of disorders of keratinization characterized primarily by abnormal skin scaling over the whole body. These disorders are limited to skin, with approximately two-thirds of patients presenting severe symptoms. The main skin phenotypes are lamellar ichthyosis (LI) and nonbullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur (summary by Fischer, 2009). Neither histopathologic findings nor ultrastructural features clearly distinguish between NCIE and LI. In addition, mutations in several genes have been shown to cause both lamellar and nonbullous ichthyosiform erythrodermal phenotypes (Akiyama et al., 2003). At the First Ichthyosis Consensus Conference in Soreze in 2009, the term 'autosomal recessive congenital ichthyosis' (ARCI) was designated to encompass LI, NCIE, and harlequin ichthyosis (ARCI4B; 242500) (Oji et al., 2010).
NCIE is characterized by prominent erythroderma and fine white, superficial, semiadherent scales. Most patients present with collodion membrane at birth and have palmoplantar keratoderma, often with painful fissures, digital contractures, and loss of pulp volume. In half of the cases, a nail dystrophy including ridging, subungual hyperkeratosis, or hypoplasia has been described. Ectropion, eclabium, scalp involvement, and loss of eyebrows and lashes seem to be more frequent in NCIE than in lamellar ichthyosis (summary by Fischer et al., 2000). In LI, the scales are large, adherent, dark, and pigmented with no skin erythema. Overlapping phenotypes may depend on the age of the patient and the region of the body. The terminal differentiation of the epidermis is perturbed in both forms, leading to a reduced barrier function and defects of lipid composition in the stratum corneum (summary by Lefevre et al., 2006).
In later life, the skin in ARCI may have scales that cover the entire body surface, including the flexural folds, and the scales are highly variable in size and color. Erythema may be very mild and almost invisible. Some affected persons exhibit scarring alopecia, and many have secondary anhidrosis (summary by Eckl et al., 2005).
For a general phenotypic description and discussion of genetic heterogeneity of autosomal recessive congenital ichthyosis, see ARCI1 (242300).|OMIM|N|
C3554349|Autosomal recessive congenital ichthyosis (ARCI) encompasses several forms of nonsyndromic ichthyosis. Although most neonates with ARCI are collodion babies, the clinical presentation and severity of ARCI may vary significantly, ranging from harlequin ichthyosis, the most severe and often fatal form, to lamellar ichthyosis (LI) and (nonbullous) congenital ichthyosiform erythroderma (CIE). These phenotypes are now recognized to fall on a continuum; however, the phenotypic descriptions are clinically useful for clarification of prognosis and management. Infants with harlequin ichthyosis are usually born prematurely and are encased in thick, hard, armor-like plates of cornified skin that severely restrict movement. Life-threatening complications in the immediate postnatal period include respiratory distress, feeding problems, and systemic infection. Collodion babies are born with a taut, shiny, translucent or opaque membrane that encases the entire body and lasts for days to weeks. LI and CIE are seemingly distinct phenotypes: classic, severe LI with dark brown, plate-like scale with no erythroderma and CIE with finer whiter scale and underlying generalized redness of the skin. Affected individuals with severe involvement can have ectropion, eclabium, scarring alopecia involving the scalp and eyebrows, and palmar and plantar keratoderma. Besides these major forms of nonsyndromic ichthyosis, a few rare subtypes have been recognized, such as bathing suit ichthyosis, self-improving collodion ichthyosis, or ichthyosis-prematurity syndrome.|GeneReviews|N|
C3554355|Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of disorders of keratinization characterized primarily by abnormal skin scaling over the whole body. These disorders are limited to skin, with approximately two-thirds of patients presenting severe symptoms. The main skin phenotypes are lamellar ichthyosis (LI) and nonbullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur (summary by Fischer, 2009). Neither histopathologic findings nor ultrastructural features clearly distinguish between NCIE and LI. In addition, mutations in several genes have been shown to cause both lamellar and nonbullous ichthyosiform erythrodermal phenotypes (Akiyama et al., 2003). At the First Ichthyosis Consensus Conference in Soreze in 2009, the term 'autosomal recessive congenital ichthyosis' (ARCI) was designated to encompass LI, NCIE, and harlequin ichthyosis (ARCI4B; 242500) (Oji et al., 2010).
NCIE is characterized by prominent erythroderma and fine white, superficial, semiadherent scales. Most patients present with collodion membrane at birth and have palmoplantar keratoderma, often with painful fissures, digital contractures, and loss of pulp volume. In half of the cases, a nail dystrophy including ridging, subungual hyperkeratosis, or hypoplasia has been described. Ectropion, eclabium, scalp involvement, and loss of eyebrows and lashes seem to be more frequent in NCIE than in lamellar ichthyosis (summary by Fischer et al., 2000). In LI, the scales are large, adherent, dark, and pigmented with no skin erythema. Overlapping phenotypes may depend on the age of the patient and the region of the body. The terminal differentiation of the epidermis is perturbed in both forms, leading to a reduced barrier function and defects of lipid composition in the stratum corneum (summary by Lefevre et al., 2006).
In later life, the skin in ARCI may have scales that cover the entire body surface, including the flexural folds, and the scales are highly variable in size and color. Erythema may be very mild and almost invisible. Some affected persons exhibit scarring alopecia, and many have secondary anhidrosis (summary by Eckl et al., 2005).
For a discussion of genetic heterogeneity of autosomal recessive congenital ichthyosis, see ARCI1 (242300).|OMIM|N|
C3554366|A rare subtype of autosomal dominant Charcot-Marie-Tooth disease type 2 with characteristics of adolescent to adulthood-onset of symmetrical, slowly progressive distal muscle weakness and atrophy (with a predominant weakness of the distal lower limbs) associated with reduced or absent deep tendon reflexes, pes cavus and mild to moderated deep sensory impairment. There is evidence this disease is caused by a heterozygous loss-of-function mutation in the DHTKD1 gene on chromosome 10p14.|SNOMEDCT_US|N|
C3554367|Epidermolysis bullosa simplex (EBS) is characterized by fragility of the skin (and mucosal epithelia in some instances) that results in non-scarring blisters and erosions caused by minor mechanical trauma. EBS is distinguished from other types of epidermolysis bullosa (EB) or non-EB skin fragility syndromes by the location of the blistering in relation to the dermal-epidermal junction. In EBS, blistering occurs within basal keratinocytes. The severity of blistering ranges from limited to hands and feet to widespread involvement. Additional features can include hyperkeratosis of the palms and soles (keratoderma), nail dystrophy, milia, and hyper- and/or hypopigmentation. Rare EBS subtypes have been associated with additional clinical features including pyloric atresia, muscular dystrophy, cardiomyopathy, and/or nephropathy.|GeneReviews|N|
C3554373|CHD8-related neurodevelopmental disorder with overgrowth (CHD8-NDD) is characterized by generalized overgrowth, developmental delay / intellectual disability (DD/ID), autism spectrum disorder (ASD), neuropsychiatric issues, neurologic problems, sleep disturbance, and gastrointestinal issues The most common findings are the development of macrocephaly (most often during infancy) and tall stature (most typically during puberty), which is often accompanied by ASD and/or DD/ID. Most, if not all, affected individuals have some degree of DD, most commonly speech and motor delays. When present, ID is most often in the mild-to-moderate range. Sleep disturbance is characterized by difficulty with both initiation (delayed sleep onset) and maintenance (frequent night awakenings) of sleep. The most common gastrointestinal issue is constipation with or without periods of diarrhea. Less common features are hypotonia (about 30% of affected individuals), seizures (10%-15%), dystonia (rare), and Chiari I malformation (rare).|GeneReviews|N|
C3554374|Dystonia-24 is an autosomal dominant form of focal dystonia affecting the neck, laryngeal muscles, and muscles of the upper limbs (summary by Charlesworth et al., 2012).|OMIM|N|
C3554381|Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. The brain shows cobblestone lissencephaly, a cortical malformation. The phenotype includes the alternative clinical designations Walker-Warburg syndrome (WWS) and muscle-eye-brain disease (MEB). The disorder represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1; 128239), collectively known as 'dystroglycanopathies' (summary by Vuillaumier-Barrot et al., 2012).
For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (236670).|OMIM|N|
C3554388|Hypoglycosylation of alpha-dystroglycan with O-mannosyl glycans. Alpha-dystroglycan is a functional target of O-mannosyl glycosylation and functional glycosylation of alpha-DG is essential in its interaction with the extracellular matrix.|HPO|N|
C3554398|CHCHD10-related disorders are characterized by a spectrum of adult-onset neurologic phenotypes that can include: Mitochondrial myopathy (may also be early onset): weakness, amyotrophy, exercise intolerance. Amyotrophic lateral sclerosis (ALS): progressive degeneration of upper motor neurons and lower motor neurons. Frontotemporal dementia (FTD): slowly progressive behavioral changes, language disturbances, cognitive decline, extrapyramidal signs. Late-onset spinal motor neuronopathy (SMA, Jokela type): weakness, cramps, and/or fasciculations; areflexia. Axonal Charcot-Marie-Tooth neuropathy: slowly progressive lower-leg muscle weakness and atrophy, small hand muscle weakness, loss of tendon reflexes, sensory abnormalities. Cerebellar ataxia: gait ataxia, kinetic ataxia (progressive loss of coordination of lower- and upper-limb movements), dysarthria/dysphagia, nystagmus, cerebellar oculomotor disorder. Because of the recent discovery of CHCHD10-related disorders and the limited number of affected individuals reported to date, the natural history of these disorders (except for SMAJ caused by the p.Gly66Val pathogenic variant) is largely unknown.|GeneReviews|N|
C3554399|Autosomal recessive congenital stationary night blindness is a disorder of the retina, which is the specialized tissue at the back of the eye that detects light and color. People with this condition typically have difficulty seeing and distinguishing objects in low light (night blindness). For example, they may not be able to identify road signs at night or see stars in the night sky. They also often have other vision problems, including loss of sharpness (reduced acuity), nearsightedness (myopia), involuntary movements of the eyes (nystagmus), and eyes that do not look in the same direction (strabismus).\n\nThe vision problems associated with this condition are congenital, which means they are present from birth. They tend to remain stable (stationary) over time.|MedlinePlus Genetics|N|
C3554409|Hypotrichosis-11 (HYPT11) is a form of isolated alopecia characterized by diffuse and progressive loss of hair starting in childhood. Affected individuals typically present with sparse to absent scalp hair, and may have brittle or absent eyebrows and eyelashes as well as sparse body hair, without hair shaft anomalies (summary by Pan et al., 2021).
For a general phenotypic description and a discussion of genetic heterogeneity of nonsyndromic hypotrichosis, see HYPT1 (605389).|OMIM|N|
C3554415|This autosomal recessive form of distal arthrogryposis, designated DA5D by McMillin et al. (2013), is characterized by severe camptodactyly of the hands, including adducted thumbs and wrists; mild camptodactyly of the toes; clubfoot and/or a calcaneovalgus deformity; extension contractures of the knee; unilateral ptosis or ptosis that is more severe on one side; a round-shaped face; arched eyebrows; a bulbous, upturned nose; and micrognathia. Notably, these patients do not have ophthalmoplegia.
For a general phenotypic description and discussion of genetic heterogeneity of distal arthrogryposis, see DA1A (108120).
For discussion of genetic heterogeneity of distal arthrogryposis type 5, see DA5 (108145).|OMIM|N|
C3554418|A type of knee joint contracture in which the knee lacks full expected flexion, such that the upper and lower leg cannot be brought together.|HPO|N|
C3554428|Osteogenesis imperfecta (OI) is a connective tissue disorder characterized by bone fragility and low bone mass. Due to considerable phenotypic variability, Sillence et al. (1979) developed a classification of OI subtypes based on clinical features and disease severity: OI type I, with blue sclerae (166200); perinatal lethal OI type II, also known as congenital OI (166210); OI type III, a progressively deforming form with normal sclerae (259420); and OI type IV, with normal sclerae (166220). Most cases of OI are autosomal dominant with mutations in 1 of the 2 genes that code for type I collagen alpha chains, COL1A1 (120150) and COL1A2 (120160).
Shaheen et al. (2012) described osteogenesis imperfecta type XIV (OI14), an autosomal recessive form of the disorder characterized by variable degrees of severity of multiple fractures and osteopenia, with normal teeth, sclerae, and hearing. Fractures first occur prenatally or by age 6 years.|OMIM|N|
C3554430|Reduced level of nasal nitric oxide (nNO). Current American Thoracic Society/European Respiratory Society (ATS/ERS) guidelines for nNO measurements recommend air aspiration via a nasal probe while the subject exhales through the mouth against resistance in order to maintain velum closure.|HPO|N|
C3554439|Alazami syndrome is an autosomal recessive disorder characterized by severe growth restriction present at birth, severely impaired intellectual development, and distinctive facial features. Some patients have been reported with skeletal and behavioral features (summary by Imbert-Bouteille et al., 2019).|OMIM|N|
C3554446|Any brachydactyly type A1 in which the cause of the disease is a mutation in the GDF5 gene.|MONDO|N|
C3554448|GAND syndrome is a neurodevelopmental syndrome characterized by global developmental delay apparent from infancy, with motor delay and moderate to severely impaired intellectual development. Most patients have poor speech acquisition, especially expressive language development, and may manifest signs of speech apraxia. Affected individuals have hypotonia and feeding difficulties in infancy, as well as common dysmorphic features, such as macrocephaly, frontal bossing, hypertelorism, deep-set eyes, posteriorly rotated ears, and elongated wide nose with prominent nasal tip. More variable features may include seizures, cardiac abnormalities, and nonspecific findings on brain imaging (summary by Shieh et al., 2020).|OMIM|N|
C3554449|CTNNB1 neurodevelopmental disorder (CTNNB1-NDD) is characterized in all individuals by mild-to-profound cognitive impairment and in up to 39% of reported individuals by exudative vitreoretinopathy, an ophthalmologic finding consistent with familial exudative vitreoretinopathy (FEVR). Other common findings include truncal hypotonia, peripheral spasticity, dystonia, behavior problems, microcephaly, and refractive errors and strabismus. Less common features include intrauterine growth restriction, feeding difficulties, and scoliosis.|GeneReviews|N|
C3554452|A form of Alzheimer''s disease associated with mutation(s) in the TREM2 gene, encoding triggering receptor expressed on myeloid cells 2.|NCI|N|
C3554453|Any azoospermia in which the cause of the disease is a mutation in the KLHL10 gene.|MONDO|N|
C3554456|Cis-3-hexen-1-ol (C3HEX) is present in a wide range of foods and beverages, including wine and spirits, olive oil, vegetables, fruit, and green tea. C3HEX is commonly associated with sensory characteristics such as 'green' and 'grassy.' The probability of an individual's ability to detect C3HEX at a particular intensity (the R-index) can be estimated, and the threshold for detection is normally distributed (summary by Jaeger et al., 2010).|OMIM|N|
C3554460|Colorectal cancer-12 (CRCS12) is an autosomal dominant disorder characterized by a high-penetrance predisposition to the development of colorectal adenomas and carcinomas, with a variable tendency to develop multiple and large tumors. Onset usually occurs before age 40 years. The histologic features of the tumors may be unremarkable (Palles et al., 2013) or show microsatellite instability (MSI) (Elsayed et al., 2015).
For a general phenotypic description and a discussion of genetic heterogeneity of colorectal cancer, see 114500.|OMIM|N|
C3554462|Mitochondrial DNA depletion syndrome-11 is an autosomal recessive mitochondrial disorder characterized by onset in childhood or adulthood of progressive external ophthalmoplegia (PEO), muscle weakness and atrophy, exercise intolerance, and respiratory insufficiency due to muscle weakness. More variable features include spinal deformity, emaciation, and cardiac abnormalities. Skeletal muscle biopsies show deletion and depletion of mitochondrial DNA (mtDNA) with variable defects in respiratory chain enzyme activities (summary by Kornblum et al., 2013).
For a discussion of genetic heterogeneity of autosomal recessive mtDNA depletion syndromes, see MTDPS1 (603041).|OMIM|N|
C3554478|A sub-type of autosomal recessive osteopetrosis caused by mutation(s) in the SNX10 gene, encoding sorting nexin-10.|NCI|N|
C3554496|Some individuals with left ventricular noncompaction experience no symptoms at all; others have heart problems that can include sudden cardiac death. Additional signs and symptoms include abnormal blood clots, irregular heart rhythm (arrhythmia), a sensation of fluttering or pounding in the chest (palpitations), extreme fatigue during exercise (exercise intolerance), shortness of breath (dyspnea), fainting (syncope), swelling of the legs (lymphedema), and trouble laying down flat. Some affected individuals have features of other heart defects. Left ventricular noncompaction can be diagnosed at any age, from birth to late adulthood. Approximately two-thirds of individuals with left ventricular noncompaction develop heart failure.\n\nLeft ventricular noncompaction is a heart (cardiac) muscle disorder that occurs when the lower left chamber of the heart (left ventricle), which helps the heart pump blood, does not develop correctly. Instead of the muscle being smooth and firm, the cardiac muscle in the left ventricle is thick and appears spongy. The abnormal cardiac muscle is weak and has an impaired ability to pump blood because it either cannot completely contract or it cannot completely relax. For the heart to pump blood normally, cardiac muscle must contract and relax fully.|MedlinePlus Genetics|N|
C3554499|Primary microcephaly-10 (MCPH10) is an autosomal recessive disorder characterized by extremely small head size (-9 SD) at birth and death usually by 1 year of age. Neuropathologic examination shows severe loss of neurons as well as neuronal loss of polarity and abnormal dendritic maturation (summary by Yang et al., 2012).
For a general phenotypic description and a discussion of genetic heterogeneity of primary microcephaly, see MCPH1 (251200).|OMIM|N|
C3554517|The features of Cowden syndrome overlap with those of another disorder called Bannayan-Riley-Ruvalcaba syndrome. People with Bannayan-Riley-Ruvalcaba syndrome also develop hamartomas and other noncancerous tumors.  Some people with Cowden syndrome have relatives diagnosed with Bannayan-Riley-Ruvalcaba syndrome, and other affected individuals have the characteristic features of both conditions. Based on these similarities, researchers have proposed that Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome represent a spectrum of overlapping features known as PTEN hamartoma tumor syndrome (named for the genetic cause of the conditions) instead of two distinct conditions.\n\n\n\nSome people do not meet the strict criteria for a clinical diagnosis of Cowden syndrome, but they have some of the characteristic features of the condition, particularly the cancers. These individuals are often described as having Cowden-like syndrome. Both Cowden syndrome and Cowden-like syndrome are caused by mutations in the same genes.\n\nCowden syndrome is associated with an increased risk of developing several types of cancer, particularly cancers of the breast, a gland in the lower neck called the thyroid, and the lining of the uterus (the endometrium). Other cancers that have been identified in people with Cowden syndrome include kidney cancer, colorectal cancer, and an agressive form of skin cancer called melanoma. Compared with the general population, people with Cowden syndrome develop these cancers at younger ages, often beginning in their thirties or forties. People with Cowden syndrome are also more likely to develop more than one cancer during their lifetimes compared to the general population. Other diseases of the breast, thyroid, and endometrium are also common in Cowden syndrome. Additional signs and symptoms can include an enlarged head (macrocephaly) and a rare, noncancerous brain tumor called Lhermitte-Duclos disease. A small percentage of affected individuals have delayed development, intellectual disability, or autism spectrum disorder, which can affect communication and social interaction.\n\nAlmost everyone with Cowden syndrome develops hamartomas. These growths are most commonly found on the skin and mucous membranes (such as the lining of the mouth and nose), but they can also occur in the intestine and other parts of the body. The growth of hamartomas on the skin and mucous membranes typically becomes apparent by a person's late twenties.\n\nCowden syndrome is a genetic disorder characterized by multiple noncancerous, tumor-like growths called hamartomas and an increased risk of developing certain cancers.|MedlinePlus Genetics|N|
C3554518|PIK3CA-related overgrowth spectrum (PROS) encompasses a range of clinical findings in which the core features are congenital or early-childhood onset of segmental/focal overgrowth with or without cellular dysplasia. Prior to the identification of PIK3CA as the causative gene, PROS was separated into distinct clinical syndromes based on the tissues and/or organs involved (e.g., MCAP [megalencephaly-capillary malformation] syndrome and CLOVES [congenital lipomatous asymmetric overgrowth of the trunk, lymphatic, capillary, venous, and combined-type vascular malformations, epidermal nevi, skeletal and spinal anomalies] syndrome). The predominant areas of overgrowth include the brain, limbs (including fingers and toes), trunk (including abdomen and chest), and face, all usually in an asymmetric distribution. Generalized brain overgrowth may be accompanied by secondary overgrowth of specific brain structures resulting in ventriculomegaly, a markedly thick corpus callosum, and cerebellar tonsillar ectopia with crowding of the posterior fossa. Vascular malformations may include capillary, venous, and less frequently, arterial or mixed (capillary-lymphatic-venous or arteriovenous) malformations. Lymphatic malformations may be in various locations (internal and/or external) and can cause various clinical issues, including swelling, pain, and occasionally localized bleeding secondary to trauma. Lipomatous overgrowth may occur ipsilateral or contralateral to a vascular malformation, if present. The degree of intellectual disability appears to be mostly related to the presence and severity of seizures, cortical dysplasia (e.g., polymicrogyria), and hydrocephalus. Many children have feeding difficulties that are often multifactorial in nature. Endocrine issues affect a small number of individuals and most commonly include hypoglycemia (largely hypoinsulinemic hypoketotic hypoglycemia), hypothyroidism, and growth hormone deficiency.|GeneReviews|N|
C3554519|The features of Cowden syndrome overlap with those of another disorder called Bannayan-Riley-Ruvalcaba syndrome. People with Bannayan-Riley-Ruvalcaba syndrome also develop hamartomas and other noncancerous tumors.  Some people with Cowden syndrome have relatives diagnosed with Bannayan-Riley-Ruvalcaba syndrome, and other affected individuals have the characteristic features of both conditions. Based on these similarities, researchers have proposed that Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome represent a spectrum of overlapping features known as PTEN hamartoma tumor syndrome (named for the genetic cause of the conditions) instead of two distinct conditions.\n\n\n\nSome people do not meet the strict criteria for a clinical diagnosis of Cowden syndrome, but they have some of the characteristic features of the condition, particularly the cancers. These individuals are often described as having Cowden-like syndrome. Both Cowden syndrome and Cowden-like syndrome are caused by mutations in the same genes.\n\nCowden syndrome is associated with an increased risk of developing several types of cancer, particularly cancers of the breast, a gland in the lower neck called the thyroid, and the lining of the uterus (the endometrium). Other cancers that have been identified in people with Cowden syndrome include kidney cancer, colorectal cancer, and an agressive form of skin cancer called melanoma. Compared with the general population, people with Cowden syndrome develop these cancers at younger ages, often beginning in their thirties or forties. People with Cowden syndrome are also more likely to develop more than one cancer during their lifetimes compared to the general population. Other diseases of the breast, thyroid, and endometrium are also common in Cowden syndrome. Additional signs and symptoms can include an enlarged head (macrocephaly) and a rare, noncancerous brain tumor called Lhermitte-Duclos disease. A small percentage of affected individuals have delayed development, intellectual disability, or autism spectrum disorder, which can affect communication and social interaction.\n\nAlmost everyone with Cowden syndrome develops hamartomas. These growths are most commonly found on the skin and mucous membranes (such as the lining of the mouth and nose), but they can also occur in the intestine and other parts of the body. The growth of hamartomas on the skin and mucous membranes typically becomes apparent by a person's late twenties.\n\nCowden syndrome is a genetic disorder characterized by multiple noncancerous, tumor-like growths called hamartomas and an increased risk of developing certain cancers.|MedlinePlus Genetics|N|
C3554520|Urofacial syndrome (UFS) is characterized by prenatal or infantile onset of urinary bladder voiding dysfunction, abnormal facial movement with expression (resulting from abnormal co-contraction of the corners of the mouth and eyes), and often bowel dysfunction (constipation and/or encopresis). Bladder voiding dysfunction increases the risk for urinary incontinence, megacystis, vesicoureteric reflux, hydroureteronephrosis, urosepsis, and progressive renal impairment. In rare instances, an individual who has (a) a molecularly confirmed diagnosis and/or (b) an affected relative meeting clinical diagnostic criteria manifests only the characteristic facial features or only the urinary bladder voiding dysfunction (not both). Nocturnal lagophthalmos (incomplete closing of the eyes during sleep) appears to be a common and significant finding.|GeneReviews|N|
C3554524|Any isolated microphthalmia in which the cause of the disease is a mutation in the ALDH1A3 gene.|MONDO|N|
C3554534|Mitochondrial complex IV deficiency nuclear type 6 (MC4DN6) is an autosomal recessive multisystem metabolic disorder with a highly variable phenotype. Some patients present in the neonatal period with encephalomyopathic features, whereas others present later in the first year of life with developmental regression. Manifestations include hypotonia, feeding difficulties, and global developmental delay. Many, but not all, patients develop hypertrophic cardiomyopathy, which may result in early death. Additional more variable features may include poor overall growth, microcephaly, seizures, neurodegeneration, spasticity, visual defects, retinopathy, and hepatic steatosis. Brain imaging in some patients shows features consistent with Leigh syndrome (see 256000). Laboratory studies show increased serum lactate and decreased levels and activity of mitochondrial respiratory complex IV (summary by Kennaway et al., 1990 and Oquendo et al., 2004).
For a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see 220110.|OMIM|N|
C3554538|A continuous form of lactic acidemia.|HPO|N|
C3554540|Lymphoproliferative syndrome-2, also known as CD27 deficiency, is an autosomal recessive immunodeficiency disorder associated with persistent symptomatic EBV viremia, hypogammaglobulinemia, and impairment in specific antibody function resulting from impaired T cell-dependent B-cell responses and T-cell dysfunction (summary by van Montfrans et al., 2012). The phenotype can vary significantly, from asymptomatic borderline-low hypogammaglobulinemia, to a full-blown symptomatic systemic inflammatory response with life-threatening EBV-related complications, including hemophagocytic lymphohistiocytosis, a lymphoproliferative disorder, and malignant lymphoma requiring stem cell transplantation (summary by Salzer et al., 2013).
For a discussion of genetic heterogeneity of lymphoproliferative syndrome, see XLP1 (308240).|OMIM|N|
C3554552|Persistent presence of Epstein-Barr virus in the blood.|HPO|N|
C3554572|Developmental defect characterized by undergrowth of the optic chiasm.|HPO|N|
C3554574|Malignant melanoma is a neoplasm of pigment-producing cells called melanocytes that occurs most often in the skin, but may also occur in the eyes, ears, gastrointestinal tract, leptomeninges, and oral and genital mucous membranes (summary by Habif, 2010).
For a discussion of genetic heterogeneity of malignant melanoma, see 155600.|OMIM|N|
C3554575|The mild variant of MSUD is characterized by increased plasma levels of branched-chain amino acids (BCAA) apparent at birth. Treatment with a low-protein diet free of BCAA can result in normal psychomotor development and lack of metabolic episodes; however, plasma levels of BCAA may remain elevated (summary by Oyarzabal et al., 2013).
For a general description and a discussion of genetic heterogeneity of maple syrup urine disease, see 248600.|OMIM|N|
C3554576|FILS syndrome is characterized by mild facial dysmorphism, mainly malar hypoplasia, livedo on the skin since birth, immunodeficiency resulting in recurrent infections, and short stature (summary by Pachlopnik Schmid et al., 2012).|OMIM|N|
C3554587|Telangiectases (small dilated blood vessels) located near the surface of the skin of the cheeks.|HPO|N|
C3554592|MCOPCB9 is characterized by microphthalmia and coloboma (Aldahmesh et al., 2012). MCOPS15 is characterized by microphthalmia and/or coloboma, with developmental delay in which speech appears to be more severely affected than motor abilities. Additional ocular anomalies that have been observed include ptosis, keyhole-shaped pupils, microcornea, sclerocornea, and anterior segment dysgenesis (Chassaing et al., 2016; Stephen et al., 2018; Singh et al., 2019).
For a discussion of genetic heterogeneity of colobomatous microphthalmia, see MCOPCB1 (300345). For a discussion of genetic heterogeneity of syndromic microphthalmia, see MCOPS1 (309800).|OMIM|N|
C3554593|Progressive retinal dystrophy due to retinol transport defect is a rare, genetic, metabolite absorption and transport disorder characterized by progressive rod-cone dystrophy, usually presenting with impaired night vision in childhood, progressive loss of visual acuity and severe retinol deficiency without keratomalacia. Association with ocular colobomas, severe acne and hypercholesterolemia has been reported.|ORDO|N|
C3554594|Steel syndrome is characterized by characteristic facies, dislocated hips and radial heads, carpal coalition (fusion of carpal bones), short stature, scoliosis, and cervical spine anomalies. The dislocated hips are resistant to surgical intervention (summary by Flynn et al., 2010).|OMIM|N|
C3554599|PEOA6 is characterized by muscle weakness, mainly affecting the lower limbs, external ophthalmoplegia, exercise intolerance, and mitochondrial DNA (mtDNA) deletions on muscle biopsy. Symptoms may appear in childhood or adulthood and show slow progression (summary by Ronchi et al., 2013).
For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant progressive external ophthalmoplegia, see PEOA1 (157640).|OMIM|N|
C3554605|Mitochondrial complex III deficiency nuclear type 2 is an autosomal recessive severe neurodegenerative disorder that usually presents in childhood, but may show later onset, even in adulthood. Affected individuals have motor disability, with ataxia, apraxia, dystonia, and dysarthria, associated with necrotic lesions throughout the brain. Most patients also have cognitive impairment and axonal neuropathy and become severely disabled later in life (summary by Ghezzi et al., 2011). The disorder may present clinically as spinocerebellar ataxia or Leigh syndrome, or with psychiatric disturbances (Morino et al., 2014; Atwal, 2014; Nogueira et al., 2013).
For a discussion of genetic heterogeneity of mitochondrial complex III deficiency, see MC3DN1 (124000).|OMIM|N|
C3554606|Mitochondrial complex III deficiency is a genetic condition that can affect several parts of the body, including the brain, kidneys, liver, heart, and the muscles used for movement (skeletal muscles). Signs and symptoms of mitochondrial complex III deficiency usually begin in infancy but can appear later.\n\nThe severity of mitochondrial complex III deficiency varies widely among affected individuals. People who are mildly affected tend to have muscle weakness (myopathy) and extreme tiredness (fatigue), particularly during exercise (exercise intolerance). More severely affected individuals have problems with multiple body systems, such as liver disease that can lead to liver failure, kidney abnormalities (tubulopathy), and brain dysfunction (encephalopathy). Encephalopathy can cause delayed development of mental and motor skills (psychomotor delay), movement problems, weak muscle tone (hypotonia), and difficulty with communication. Some affected individuals have a form of heart disease called cardiomyopathy, which can lead to heart failure. \n\nMost people with mitochondrial complex III deficiency have a buildup of a chemical called lactic acid in the body (lactic acidosis). Some affected individuals also have buildup of molecules called ketones (ketoacidosis) or high blood glucose levels (hyperglycemia). Abnormally high levels of these chemicals in the body can be life-threatening.\n\nMitochondrial complex III deficiency can be fatal in childhood, although individuals with mild signs and symptoms can survive into adolescence or adulthood.|MedlinePlus Genetics|N|
C3554607|Mitochondrial complex III deficiency can be fatal in childhood, although individuals with mild signs and symptoms can survive into adolescence or adulthood.\n\nMost people with mitochondrial complex III deficiency have a buildup of a chemical called lactic acid in the body (lactic acidosis). Some affected individuals also have buildup of molecules called ketones (ketoacidosis) or high blood glucose levels (hyperglycemia). Abnormally high levels of these chemicals in the body can be life-threatening.\n\nThe severity of mitochondrial complex III deficiency varies widely among affected individuals. People who are mildly affected tend to have muscle weakness (myopathy) and extreme tiredness (fatigue), particularly during exercise (exercise intolerance). More severely affected individuals have problems with multiple body systems, such as liver disease that can lead to liver failure, kidney abnormalities (tubulopathy), and brain dysfunction (encephalopathy). Encephalopathy can cause delayed development of mental and motor skills (psychomotor delay), movement problems, weak muscle tone (hypotonia), and difficulty with communication. Some affected individuals have a form of heart disease called cardiomyopathy, which can lead to heart failure. \n\nMitochondrial complex III deficiency is a genetic condition that can affect several parts of the body, including the brain, kidneys, liver, heart, and the muscles used for movement (skeletal muscles). Signs and symptoms of mitochondrial complex III deficiency usually begin in infancy but can appear later.|MedlinePlus Genetics|N|
C3554608|Mitochondrial complex III deficiency is a genetic condition that can affect several parts of the body, including the brain, kidneys, liver, heart, and the muscles used for movement (skeletal muscles). Signs and symptoms of mitochondrial complex III deficiency usually begin in infancy but can appear later.\n\nThe severity of mitochondrial complex III deficiency varies widely among affected individuals. People who are mildly affected tend to have muscle weakness (myopathy) and extreme tiredness (fatigue), particularly during exercise (exercise intolerance). More severely affected individuals have problems with multiple body systems, such as liver disease that can lead to liver failure, kidney abnormalities (tubulopathy), and brain dysfunction (encephalopathy). Encephalopathy can cause delayed development of mental and motor skills (psychomotor delay), movement problems, weak muscle tone (hypotonia), and difficulty with communication. Some affected individuals have a form of heart disease called cardiomyopathy, which can lead to heart failure. \n\nMost people with mitochondrial complex III deficiency have a buildup of a chemical called lactic acid in the body (lactic acidosis). Some affected individuals also have buildup of molecules called ketones (ketoacidosis) or high blood glucose levels (hyperglycemia). Abnormally high levels of these chemicals in the body can be life-threatening.\n\nMitochondrial complex III deficiency can be fatal in childhood, although individuals with mild signs and symptoms can survive into adolescence or adulthood.|MedlinePlus Genetics|N|
C3554609|Short ulna-dysmorphism-hypotonia-intellectual disability syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by mild to severe global development delay, severe intellectual disability, mild hypotonia, a short ulna, hirsutism of the face and extremities, minimal scoliosis, and facial dysmorphism, notably a tall broad forehead, synophrys, hypertelorism, malar hypoplasia, broad nose with thick alae nasi, low-set, small ears, long philtrum, thin upper lip and everted lower lip vermilion.|ORDO|N|
C3554610|The first signs and symptoms of cone-rod dystrophy, which often occur in childhood, are usually decreased sharpness of vision (visual acuity) and increased sensitivity to light (photophobia). These features are typically followed by impaired color vision (dyschromatopsia), blind spots (scotomas) in the center of the visual field, and partial side (peripheral) vision loss. Over time, affected individuals develop night blindness and a worsening of their peripheral vision, which can limit independent mobility. Decreasing visual acuity makes reading increasingly difficult and most affected individuals are legally blind by mid-adulthood. As the condition progresses, individuals may develop involuntary eye movements (nystagmus).\n\nThere are more than 30 types of cone-rod dystrophy, which are distinguished by their genetic cause and their pattern of inheritance: autosomal recessive, autosomal dominant, and X-linked. Additionally, cone-rod dystrophy can occur alone without any other signs and symptoms or it can occur as part of a syndrome that affects multiple parts of the body.\n\nCone-rod dystrophy is a group of related eye disorders that causes vision loss, which becomes more severe over time. These disorders affect the retina, which is the layer of light-sensitive tissue at the back of the eye. In people with cone-rod dystrophy, vision loss occurs as the light-sensing cells of the retina gradually deteriorate.|MedlinePlus Genetics|N|
C3554611|A rare genetic congenital limb malformation syndrome with characteristics of a unique combination of bilateral, symmetrical camptodactyly and clinodactyly of fifth fingers, mesoaxial camptodactyly of toes and ulnar deviation of third fingers. Additional variable manifestations include bifid toes and severe syndactyly or synpolydactyly involving all digits of hands and feet.|SNOMEDCT_US|N|
C3554612|Proximal interphalangeal (PIP) flexion deformity of the little finger. That is, the PIP joint of a little finger is bent (flexed) and cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement.|HPO|N|
C3554614|Displacement of the 3rd finger towards the ulnar side (i.e., towards the ring finger).|HPO|N|
C3554638|Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is an autosomal recessive disorder with congenital muscular dystrophy resulting in muscle weakness early in life and brain and eye anomalies. It is usually associated with delayed psychomotor development and shortened life expectancy. The phenotype includes the alternative clinical designations Walker-Warburg syndrome (WWS) and muscle-eye-brain disease (MEB). The disorder represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1; 128239), collectively known as 'dystroglycanopathies' (summary by Stevens et al., 2013).
For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (236670).|OMIM|N|
C3554639|A response indicating that a patient has or had severe cognitive impairments.|NCI|N|
C3554649|Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the CRYAB gene.|MONDO|N|
C3554656|Dyskeratosis congenita and related telomere biology disorders (DC/TBD) are caused by impaired telomere maintenance resulting in short or very short telomeres. The phenotypic spectrum of telomere biology disorders is broad and includes individuals with classic dyskeratosis congenita (DC) as well as those with very short telomeres and an isolated physical finding. Classic DC is characterized by a triad of dysplastic nails, lacy reticular pigmentation of the upper chest and/or neck, and oral leukoplakia, although this may not be present in all individuals. People with DC/TBD are at increased risk for progressive bone marrow failure (BMF), myelodysplastic syndrome or acute myelogenous leukemia, solid tumors (usually squamous cell carcinoma of the head/neck or anogenital cancer), and pulmonary fibrosis. Other findings can include eye abnormalities (epiphora, blepharitis, sparse eyelashes, ectropion, entropion, trichiasis), taurodontism, liver disease, gastrointestinal telangiectasias, and avascular necrosis of the hips or shoulders. Although most persons with DC/TBD have normal psychomotor development and normal neurologic function, significant developmental delay is present in both forms; additional findings include cerebellar hypoplasia (Hoyeraal Hreidarsson syndrome) and bilateral exudative retinopathy and intracranial calcifications (Revesz syndrome and Coats plus syndrome). Onset and progression of manifestations of DC/TBD vary: at the mild end of the spectrum are those who have only minimal physical findings with normal bone marrow function, and at the severe end are those who have the diagnostic triad and early-onset BMF.|GeneReviews|N|
C3554657|Lissencephaly-5 (LIS5) is an autosomal recessive brain malformation characterized by cobblestone changes in the cortex, more severe in the posterior region, and subcortical band heterotopia. Affected individuals have hydrocephalus, seizures, and severely delayed psychomotor development (Radmanesh et al., 2013).
For a general phenotypic description and a discussion of genetic heterogeneity of lissencephaly, see LIS1 (607432).|OMIM|N|
C3554663|Platelet-type bleeding disorder-15 is an autosomal dominant form of macrothrombocytopenia. Affected individuals usually have no or only mild bleeding tendency, such as epistaxis. Laboratory studies show decreased numbers of large platelets and anisocytosis, but the platelets show no in vitro functional abnormalities (summary by Kunishima et al., 2013).|OMIM|N|
C3554664|Restless legs syndrome (RLS) is a neurologic sleep/wake disorder characterized by uncomfortable and unpleasant sensations in the legs that appear at rest, usually at night, inducing an irresistible desire to move the legs. The disorder results in nocturnal insomnia and chronic sleep deprivation (Bonati et al., 2003).
For additional information and a discussion of heterogeneity of restless legs syndrome, see RLS1 (102300).|OMIM|N|
C3554665|Osteosclerotic metaphyseal dysplasia (OSMD) is a rare condition characterized by distinctive radiographic changes, including osteosclerosis localized predominantly to the metaphyses of the long bones. The shafts of the long bones are osteopenic. Laboratory abnormalities include elevated alkaline phosphatase levels in some, but not all, patients. Elevated urinary pyridinoline and deoxypyridinoline levels, markers of osteoclastic activity, have also been reported (Nishimura and Kozlowski, 1993; Kasapkara et al., 2013; Guo et al., 2017).
Patients with OSMD have been described who also show hypotonia, developmental delay, seizures, and later-onset spastic paraplegia; however, OSMD resulting from mutation in the LRRK1 gene does not appear to include these neurologic features (Nishimura and Kozlowski, 1993; Kasapkara et al., 2013; Guo et al., 2017).
Reviews
Howaldt et al. (2020) reviewed published reports of LRRK1-associated OSMD, and noted that patients typically present with recurrent pathologic fractures and osteosclerosis at multiple skeletal sites, predominantly at the metaphyses and vertebral bodies. Variable degrees of osteosclerosis of ribs and skull and of Erlenmeyer flask deformity of the femurs have been observed.|OMIM|N|
C3554669|An increase in bone density within the clavicle.|HPO|N|
C3554686|Immunodeficiency-11A is an autosomal recessive primary immunodeficiency characterized by normal numbers of T and B lymphocytes, but defective intracellular signaling. There is a block in B-cell differentiation with increased numbers of transitional B cells and hypogammaglobulinemia, as well as decreased numbers of regulatory T cells and defects in T-cell function (summary by Greil et al., 2013 and Stepensky et al., 2013).|OMIM|N|
C3554687|Immunodeficiency-56 is an autosomal recessive primary immunodeficiency characterized by B- and T-cell defects and variable dysfunction of NK cells. Patients tend to have normal numbers of lymphocytes, but show defective class-switched B cells, low IgG, defective antibody response, and defective T-cell responses to certain antigens (summary by Kotlarz et al., 2013).|OMIM|N|
C3554689|Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the PIK3R1 gene.|MONDO|N|
C3554690|AOA3 is an autosomal recessive progressive neurologic disorder with onset in the second decade of life (Al Tassan et al., 2012).
For a discussion of genetic heterogeneity of ataxia-oculomotor apraxia, see AOA1 (208920).|OMIM|N|
C3554691|Congenital hydrocephalus-2 (HYC2) is a congenital disorder with onset in utero. Affected individuals have hydrocephalus with variably dilated ventricles and variable neurologic sequelae. Some individuals have other brain abnormalities, including lissencephaly, thinning of the corpus callosum, and neuronal heterotopia. Most patients have delayed motor development and some have delayed intellectual development and/or seizures. Additional congenital features, including cardiac septal defects, iris coloboma, and nonspecific dysmorphic features, may be observed. Some patients die in utero, in infancy, or in early childhood, whereas others have long-term survival (summary by Shaheen et al., 2017).
For a discussion of genetic heterogeneity of congenital hydrocephalus, see 233600.|OMIM|N|
C3554721|An abnormality of the optic nerve in which the optic nerve is large and funneled and displays a conical excavation of the optic disc. The optic disc appears dysplastic.|HPO|N|
C3554724|A complete duplication affecting one or more of the phalanges of the thumb. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism.|HPO|N|
C3554774|A rare multiple congenital anomalies syndrome with characteristics of distinctive facial appearance (low frontal hairline, bilateral ptosis, prominent eyes, flat midface, broad, flat nares, Cupid''s bow upper lip vermilion and small, low-set, posteriorly rotated ears), cleft palate, conductive hearing loss, heart defects (atrial or ventricular septal defect) and mild developmental delay/intellectual disability.|SNOMEDCT_US|N|
C3639952|A balloon type pouch or bulge in the wall of a cerebral vein.|NCI|N|
C3639953|Atrioventricular septal defect in which the atrioventricular junction is shared evenly between the left ventricle and right ventricle.|NCI|N|
C3639954|Atrioventricular septal defect in which there is usually a single dominant ventricle and a hypoplastic ventricle.|NCI|N|
C3639955|A congenital heart defect in which the heart is located in the right side and the other organs are in their normal position.|NCI|N|
C3639956|The blockage of bowel contents from evacuation; the causes are attributable to non-structural impediments, such as chemical imbalances or the side effects of medications, narcotics in particular.|NCI|N|
C3639958|A stage of retinopathy of prematurity characterized by the presence of the following in at least two quadrants around the optic nerve: dilation and tortuosity of major retinal vasculature as a result of increased blood flow.|NCI|N|
C3639994|A lack of agreement of findings.|NCI|N|
C3640004|A deletion of exons 2-7 of the EGFR gene corresponding to 804 nucleotides starting at position 334 through position 1137.|NCI|N|
C3640008|A sensation of great anguish and suffering.|NCI|N|
C3640009|A sensation of discomfort or distress that is bothersome and irritating.|NCI|N|
C3640010|A sensation of extreme discomfort and anguish that is perceived as severe enough to cause one''s death.|NCI|N|
C3640011|A sensation of discomfort or distress that renders an individual unable to find any happiness.|NCI|N|
C3640012|A sensation of discomfort or distress that is frightening or scary.|NCI|N|
C3640013|A sensation of having discomfort or distress inflicted upon an individual.|NCI|N|
C3640014|A sensation of extreme discomfort and anguish that is overwhelming and unendurable.|NCI|N|
C3640015|A sensation of discomfort or distress that is very unpleasant.|NCI|N|
C3640016|A sensation of discomfort or distress from excess weight or pressure on a specific anatomical location.|NCI|N|
C3640017|An intense sensation of discomfort or distress that feels like being torn or ripped apart.|NCI|N|
C3640019|A congenital heart defect in which there is an abnormal arrangement of any of the primary blood vessels of the heart in conjunction with the notable absence of any pathologic opening between the cardiac ventricles.|NCI|N|
C3640020|A congenital heart defect in which there is an abnormal arrangement of any of the primary blood vessels of the heart in conjunction with a pathologic opening between the cardiac ventricles.|NCI|N|
C3640021|A rare congenital abnormality characterized by the complete absence of ocular tissue in both orbits.|NCI|N|
C3640022|A rare congenital abnormality characterized by the complete absence of ocular tissue in one orbit.|NCI|N|
C3640024|A developmental anomaly characterized by abnormal smallness of one eye.|HPO|N|
C3640025|Cataracts in both eyes that result from the aging process, an injury, or as a manifestation of a systemic disorder.|NCI|N|
C3640026|A cataract in one eye that results from the aging process, an injury, or as a manifestation of a systemic disorder.|NCI|N|
C3640028|Cataract in one eye that is present at birth.|NCI|N|
C3640029|An electrocardiographic finding of a tachycardia that originates in the ventricles that is present at birth.|NCI|N|
C3640030|A disorder present at birth characterized by an electrocardiographic finding of a tachycardia that originates above the ventricles.|NCI|N|
C3640031|Damage to the phrenic nerve that results in paralysis of the hemidiaphragm at birth.|NCI|N|
C3640034|A congenital abnormality in the cervical region of the spine in which the meninges protrude through a defect in the spinal column.|NCI|N|
C3640035|A congenital abnormality in the lumbar region of the spine in which the meninges protrude through a defect in the spinal column.|NCI|N|
C3640036|A congenital abnormality in the thoracic region of the spine in which the meninges protrude through a defect in the spinal column.|NCI|N|
C3640041|A lesion found in the division of a vessel into at least two branches, each of which is 1.5 mm or greater in diameter. (ACC)|NCI|N|
C3640046|An unexpected or dangerous reaction to a substance (e.g., food, environmental agent). (ACC)|NCI|N|
C3640048|Penetration of a lead through a systemic vein, coronary vein, or the myocardium. (ACC)|NCI|N|
C3640051|Acute occlusion of a peripheral blood vessel resulting from intravascular migration of material. Examples of embolic material include thrombus, fat, bone marrow, air, and amniotic fluid. (ACC)|NCI|N|
C3640053|Pathology involving the main renal arteries or extrarenal arterial branches. (ACC)|NCI|N|
C3640068|A congenital abnormality characterized by the underdevelopment of one optic nerve.|NCI|N|
C3640069|Generalized depression of the central nervous system of an infant during the perinatal period.|NCI|N|
C3640070|Ischemic necrosis of the spinal cord due to spinal artery occlusion during the birthing process.|NCI|N|
C3640071|The diagnosis assigned when a health care practitioner feels strongly the patient has necrotizing enterocolitis, but lacks definitive proof.|NCI|N|
C3640072|A pathologic fibrous band that impedes passage of intestinal contents through the ileum.|NCI|N|
C3640073|A pathologic fibrous band that impedes passage of intestinal contents through the jejunum.|NCI|N|
C3640079|A pathologic fibrous band that impedes passage of intestinal contents through the colon.|NCI|N|
C3640081|An immature state in which retinopathy of prematurity cannot be established.|NCI|N|
C3640082|Any deviation from normal in the coronary vasculature.|NCI|N|
C3640083|A pathologic fibrous net that impedes passage of intestinal contents through the colon.|NCI|N|
C3640084|Partial or complete paralysis of the facial muscles of one side of an individual''s face that is caused by trauma.|NCI|N|
C3640085|Respiratory distress in the newborn due to inhalation of blood; this is an unusual event and is sometimes linked to the non passage of meconium before delivery or mothers with antepartum hemorrhage.|NCI|N|
C3640086|A rare congenital heart anomaly in which there is coexistence of tetralogy of Fallot and complete atrioventricular septal defect. The latter is characterized by defects in the atrial and ventricular septa and a common atrioventricular valve.|NCI|N|
C3640087|A congenital defect in which there is an abnormal spatial arrangement of the internal thoraco-abdominal organs; this manifestation of the disorder presents with many accessory spleens instead of one.|NCI|N|
C3640088|A congenital defect in which there is an abnormal spatial arrangement of the internal thoraco-abdominal organs; in this manifestation of the disorder, the spleen is absent.|NCI|N|
C3640089|Impaired gas exchange by the respiratory system resulting in hypoxemia and decreased oxygenation of the tissues that may be associated with increased arterial levels of carbon dioxide; the respiratory failure is due to a neuromuscular disorder.|NCI|N|
C3640090|Impaired gas exchange by the respiratory system resulting in hypoxemia and decreased oxygenation of the tissues that may be associated with increased arterial levels of carbon dioxide; the respiratory failure is due to a central nervous system disorder.|NCI|N|
C3640091|The formation of a thrombus in the artery as a direct result of an activity associated with vascular access.|NCI|N|
C3640092|The formation of a thrombus in the vein as a direct result of an activity associated with vascular access.|NCI|N|
C3640140|Stage I includes: Any T, Any N, M0. M0: No evidence of distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C3640141|Stage I includes: T1, N0, M0. T1: Tumor size 2 cm or less in greatest dimension, limited to the thyroid gland. N0: No regional lymph node metastasis. M0: No evidence of distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C3640142|Stage II includes: Any T, Any N, M1. M1: Distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C3640143|Stage II includes: T2, N0, M0. T2: Tumor more than 2 cm but not more than 4 cm in greatest dimension, limited to the thyroid gland. N0: No regional lymph node metastasis. M0: No evidence of distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C3640147|An electrocardiographic finding that a myocardial infarction has occurred concurrently with the absence of clinical symptoms.|NCI|N|
C3640153|A molecular genetic abnormality that refers to a change in the nucleotide sequence of the PALB2 gene.|NCI|N|
C3640667|The lead has been left in situ and reused.|NCI|N|
C3640719|An indication that a study participant has been removed from the study by the parent or legal guardian.|NCI|N|
C3640764|The potential future harm that may arise from some present action or attribute or condition is moderate.|NCI|N|
C3640791|An indication or description that an extended period of hospitalization is necessary.|NCI|N|
C3640792|A sustained and substantial impairment or disruption of a person''s ability to conduct normal life functions for the remainder of his/her life.|NCI|N|
C3640793|Vaccines that the patient received within four weeks prior to the current vaccine administration date being reported.|NCI|N|
C3640813|The result of an actual line of questioning about a sign, symptom, disease, or other medical occurrence.|NCI|N|
C3640829|An electrocardiographic finding of pathologic Q waves with accompanying ST elevation in leads V3 through V6, which is suggestive of acute myocardial infarction of the anterolateral wall of the left ventricle. (CDISC)|NCI|N|
C3640830|An electrocardiographic finding of pathologic Q waves with accompanying ST elevation in leads V1 through V4, which is suggestive of acute myocardial infarction of the anteroseptal wall of the left ventricle. (CDISC)|NCI|N|
C3640831|An electrocardiographic finding of pathologic Q waves with accompanying ST elevation in leads I and aVL, which is suggestive of acute myocardial infarction of the high lateral wall of the left ventricle. (CDISC)|NCI|N|
C3640832|An electrocardiographic finding in leads V1 or V2 of an initial R wave duration greater than or equal to 40 ms, R wave greater than S wave, upright T wave, with accompanying ST elevation, which is suggestive of acute myocardial infarction of the ventricular wall of the left ventricle. Evidence of inferior or lateral myocardial infarction is usually also present. (CDISC)|NCI|N|
C3640833|An electrocardiographic finding of pathologic Q waves with accompanying ST elevation in leads V1, V2 and often V3, which is suggestive of acute myocardial infarction of the intraventricular septum. (CDISC)|NCI|N|
C3640834|An electrocardiographic finding in which two premature atrial complexes occur sequentially. (CDISC)|NCI|N|
C3640835|There are no indicators of bacterial infection in an individual who previously had an infection.|NCI|N|
C3640836|There are indicators of bacterial infection in the individual who previously had an infection.|NCI|N|
C3640837|Objective evidence of bacterial infection perceptible to the examiner by laboratory procedure.|NCI|N|
C3640840|There are no signs or symptoms of disease in the individual who previously had a disease.|NCI|N|
C3640841|There are still signs or symptoms of disease in the individual who previously had an infection.|NCI|N|
C3640850|An electrocardiographic finding where the amplitude of the R wave becomes greater than the amplitude of the S wave in the QRS complex at an unusually early point in the precordial leads, usually in leads V1 or V2. (CDISC)|NCI|N|
C3640852|Resistance to nearly all known drugs, particularly the most efficacious or non-first line drugs, used in the treatment of a particular disease.|NCI|N|
C3640853|An electrocardiographic finding of a frontal plane QRS axis from -90 to +180 degrees. (CDISC)|NCI|N|
C3640854|A lack of response to the first cycle of therapy.|NCI|N|
C3640855|A lack of response to more than one cycle of therapy.|NCI|N|
C3640856|A patient''s failure to remember to take a dose of medication.|NCI|N|
C3640857|An electrocardiographic finding that occurs when electrical activation of the atria or ventricles occurs from two separate sites. This results in a P wave or QRS complex that displays merged characteristics of beats originating from the two different sites. (CDISC)|NCI|N|
C3640858|An electrocardiographic finding of pathologic Q waves in leads I and aVL, which is suggestive of myocardial infarction of the high lateral wall of the left ventricle. (CDISC)|NCI|N|
C3640864|An electrocardiographic finding where the amplitude of the R wave does not become greater than the amplitude of the S wave until an unusually late point in the precordial leads, usually in leads V4 to V6. (CDISC)|NCI|N|
C3640865|An electrocardiographic finding suggestive of a hypertrophied left ventricle, characterized by large QRS amplitudes, ST depression and T wave inversion. (CDISC)|NCI|N|
C3640871|The medication is no longer held or possessed by the subject and is incapable of being recovered or regained.|NCI|N|
C3640872|Medications that were lost because they were put in the wrong place.|NCI|N|
C3640877|An electrocardiographic finding of premature atrial complexes which have 2 or more distinct morphologies, suggesting origin at more than one atrial site. (CDISC)|NCI|N|
C3640879|An electrocardiographic finding of an atrial tachycardia which terminates in less than 30 seconds. (CDISC)|NCI|N|
C3640881|An electrocardiographic finding of pathologic Q waves in leads V3 and V4, which is suggestive of myocardial infarction of the anterior wall of the left ventricle, without evidence of current or ongoing acute infarction. (CDISC)|NCI|N|
C3640882|An electrocardiographic finding of pathologic Q waves in leads V3 through V6, which is suggestive of myocardial infarction of the anterolateral wall of the left ventricle, without evidence of current or ongoing acute infarction. (CDISC)|NCI|N|
C3640883|An electrocardiographic finding of pathologic Q waves in leads V1 through V4, which is suggestive of myocardial infarction of the anteroseptal wall of the left ventricle, without evidence of current or ongoing acute infarction. (CDISC)|NCI|N|
C3640884|An electrocardiographic finding of pathologic Q waves in leads V1 to V6, I and aVL, which is suggestive of myocardial infarction involving the anterior and anterolateral walls of the left ventricle, without evidence of current or ongoing acute infarction. (CDISC)|NCI|N|
C3640885|An electrocardiographic finding of pathologic Q waves in leads I and aVL, which is suggestive of myocardial infarction of the high lateral wall of the left ventricle, without evidence of current or ongoing acute infarction. (CDISC)|NCI|N|
C3640886|An electrocardiographic finding of pathologic Q waves in leads III, aVF and often II, which is suggestive of myocardial infarction of the inferior wall of the left ventricle, without evidence of current or ongoing acute infarction. (CDISC)|NCI|N|
C3640887|An electrocardiographic finding of pathologic Q waves in leads V5, V6, I and aVL, which is suggestive of myocardial infarction of the lateral wall of the left ventricle, without evidence of current or ongoing acute infarction. (CDISC)|NCI|N|
C3640888|An electrocardiographic finding in leads V1 or V2 of an initial R wave duration greater than or equal to 40 ms, R wave greater than S wave, and upright T wave, which is suggestive of myocardial infarction of the posterior wall of the left ventricle, without evidence of current or ongoing acute infarction. Evidence of inferior or lateral myocardial infarction is usually also present. (CDISC)|NCI|N|
C3640889|An electrocardiographic finding, in the presence of an old or age indeterminate inferior wall myocardial infarction, of Q waves greater than or equal to 40 ms in duration in the right ventricular leads V4R through V6R. (CDISC)|NCI|N|
C3640890|An electrocardiographic finding of pathologic Q waves in leads V1, V2 and often V3, which is suggestive of myocardial infarction of the intraventricular septum, without evidence of current or ongoing acute infarction. (CDISC)|NCI|N|
C3640894|A previous episode of failure by a patient to follow medical advice, take medication as directed, or adhere to a prescribed course of treatment.|NCI|N|
C3640896|An electrocardiographic finding in which the frontal plane QRS axis cannot be calculated.|NCI|N|
C3640898|An electrocardiographic finding of ST depression and T wave inversion in the presence of increased QRS amplitude which are thought to be due to left ventricular hypertrophy.|NCI|N|
C3640899|An electrocardiographic finding of a QT interval corrected for heart rate that is shorter than the lower limit of normal. Thresholds for different age, gender, and patient populations exist. (CDISC)|NCI|N|
C3640903|A drug serum concentration below therapeutic levels.|NCI|N|
C3640907|An electrocardiographic finding of premature atrial complexes which have a single distinct morphology, suggesting origin at one atrial site.|NCI|N|
C3640911|An electrocardiographic finding of pathologic Q waves, which is suggestive of myocardial infarction of one or more regions of the heart and which is new compared to prior ECGs. No specification is provided for localization. (CDISC)|NCI|N|
C3640912|An electrocardiographic finding of pathologic Q waves in leads V3 and V4, which is suggestive of myocardial infarction of the anterior wall of the left ventricle and which is new compared to prior ECGs. (CDISC)|NCI|N|
C3640913|An electrocardiographic finding of pathologic Q waves in leads V3 through V6, which is suggestive of myocardial infarction of the anterolateral wall of the left ventricle and which is new compared to prior ECGs. (CDISC)|NCI|N|
C3640914|An electrocardiographic finding of pathologic Q waves in leads V1 through V4, which is suggestive of myocardial infarction of the anteroseptal wall of the left ventricle and which is new compared to prior ECGs. (CDISC)|NCI|N|
C3640915|An electrocardiographic finding of pathologic Q waves in leads V1 to V6, I and aVL, which is suggestive of myocardial infarction involving the anterior and anterolateral walls of the left ventricle and which is new compared to prior ECGs. (CDISC)|NCI|N|
C3640916|An electrocardiographic finding of pathologic Q waves in leads I and aVL, which is suggestive of myocardial infarction of the high lateral wall of the left ventricle and which is new compared to prior ECGs. (CDISC)|NCI|N|
C3640917|An electrocardiographic finding of pathologic Q waves in leads III, aVF and often II, which is suggestive of myocardial infarction of the inferior wall of the left ventricle and which is new compared to prior ECGs. (CDISC)|NCI|N|
C3640918|An electrocardiographic finding of pathologic Q waves in leads V5, V6, I and aVL, which is suggestive of myocardial infarction of the lateral wall of the left ventricle and which is new compared to prior ECGs. (CDISC)|NCI|N|
C3640919|An electrocardiographic finding of pathologic Q waves in leads V1, V2 and often V3, which is suggestive of myocardial infarction of the intraventricular septum and which is new compared to prior ECGs. (CDISC)|NCI|N|
C3640961|Localized tumor with incomplete gross excision; representative ipsilateral nonadherent lymph nodes negative for tumor microscopically. (cancer.gov)|NCI|N|
C3640962|Localized tumor with or without complete gross excision, with ipsilateral nonadherent lymph nodes positive for tumor. Enlarged contralateral lymph nodes must be negative microscopically. (cancer.gov)|NCI|N|
C3640977|Any disease or disorder of relevance that occurs before, during or after another illness.|NCI|N|
C3640983|A malignant germ cell tumor other than dysgerminoma that arises from the ovary.|NCI|N|
C3640997|A malignant neoplasm caused by human papillomavirus in an a patient with a history of AIDS.|NCI|N|
C3640999|An astrocytic tumor exhibiting high-grade morphological characteristics. This category includes anaplastic astrocytoma, glioblastoma, and astrocytoma, IDH-mutant, grade 4.|NCI|N|
C3641083|Complete resolution of all signs and symptoms in all affected organs or tissues in chronic Graft versus Host Disease (cGVHD).|NCI|N|
C3641084|Improvement in one or more organ or tissue without progression in other affected organs or tissue in chronic Graft versus Host Disease (cGVHD).|NCI|N|
C3641085|Change towards improvement from the pretreatment baseline, but not meeting the criteria for Complete Response or Partial Response in chronic Graft versus Host Disease (cGVHD).|NCI|N|
C3641086|Improvement in some organs, but worsening in others in chronic Graft versus Host Disease (cGVHD); this is categorized as progressive disease.|NCI|N|
C3641089|Recurrence of malignancy following hematopoietic cell transplantation, based on one or more of the following parameters: marrow morphology, flow cytometry, cytogenetic studies, including fluorescence in situ hybridization, electrophoresis, immunofixation assays, and polymerase chain reaction-based assays for disease markers, or imaging results.|NCI|N|
C3641093|Damage to the phrenic nerve that is present at birth.|NCI|N|
C3641105|Withdrawal signs and symptoms that present during the postnatal period and are caused by drug use by the pregnant mother.|NCI|N|
C3641106|A bleeding disorder that is diagnosed during childhood, with the presenting symptom of excessive bleeding.|NCI|N|
C3641116|Drug withdrawal symptoms in a fetus following maternal discontinuation or reduction of use of one or more addictive substance(s) that have caused fetal physiological dependence.|NCI|N|
C3641117|A disorder that affects the female or male reproductive system and is present at birth. Representative examples include ovarian agenesis, vaginal agenesis, and penile agenesis.|NCI|N|
C3641118|Damage to the phrenic nerve that was not present at birth.|NCI|N|
C3641119|Damage to the phrenic nerve that results in paralysis of the hemidiaphragm and was not present at birth.|NCI|N|
C3641147|A fetal affliction that has a neurological basis and manifests as a developmental disability.|NCI|N|
C3641182|An opportunistic infection caused by the human papillomavirus in a patient with AIDS.|NCI|N|
C3641196|Greater than 90% reduction of primary tumor; no metastatic tumor (as above except bone); no new bone lesions, all pre-existing lesions improved on bone scan; HVA/VMA normal.|NCI|N|
C3641197|No evidence of primary tumor, no evidence of metastases (chest, abdomen, liver, bone, bone marrow, nodes, etc.), and HVA/VMA normal.|NCI|N|
C3641198|Fifty to 90% reduction of primary tumor; 50% or greater reduction in measurable sites of metastases; 0-1 bone marrow samples with tumor; number of positive bone sites decreased by greater than 50%.|NCI|N|
C3641199|No new lesions; less than 50% reduction but less than 25% increase in any existing lesion (exclude bone marrow evaluation).|NCI|N|
C3641200|Greater than 50% reduction of any measurable lesion (primary or metastases) with, less than 50% reduction in any other site; no new lesions; less than 25% increase in any existing lesion (exclude bone marrow evaluation).|NCI|N|
C3641241|A benign neoplasm, morphologically a fibroma with osseous components.|NCI|N|
C3641242|A malignant mixed neoplasm of the liver comprising neoplastic hepatocytes and bile duct epithelial cells; both elements displaying evidence of malignancy.|NCI|N|
C3641243|A malignant neoplasm arising from the brown adipose tissue in animals, usually in the subcutis and the thoracic cavity.|NCI|N|
C3641258|An assessment of the equivocality of disease progression based on a newly identified lesion.|NCI|N|
C3641260|Not all target lesions were assessed. Or not all non-target lesions were assessed.|NCI|N|
C3641324|The most severe pain an individual can conceive of experiencing.|NCI|N|
C3641608|An unequivocal feeling of opposition.|NCI|N|
C3641612|An unequivocal feeling of concurrence.|NCI|N|
C3641643|A library of items for patient self-reporting of symptoms and side effects associated with cancer treatment trials.|NCI|N|
C3641666|A finding indicating that an excess amount of norepinephrine is secreted by a tumor.|NCI|N|
C3641667|A finding indicating that an excess amount of normetanephrine is secreted by a tumor.|NCI|N|
C3641668|A finding indicating that an excess amount of epinephrine is secreted by a tumor.|NCI|N|
C3641669|A finding indicating that an excess amount of metanephrine is secreted by a tumor.|NCI|N|
C3641670|A finding indicating that an excess amount of dopamine is secreted by a tumor.|NCI|N|
C3641671|A finding indicating that an excess amount of methoxytyramine is secreted by a tumor.|NCI|N|
C3641691|A morphologic finding indicating the presence of less than or equal to twenty five percent of clear or vacuolated cells that resemble the normal zona fasciculata in adrenocortical tumors.|NCI|N|
C3641694|A finding about one or more characteristics of adrenal cancer, following the rules of the ENSAT staging v7 classification system.|NCI|N|
C3641695|A pathologic finding about one or more characteristics of adrenal cancer, following the rules of the ENSAT staging v7 classification system.|NCI|N|
C3641696|A pathologic finding about one or more characteristics of adrenal cancer, following the rules of the ENSAT staging v7 classification system as they pertain to staging of the primary tumor.|NCI|N|
C3641697|Adrenal cancer with tumor size equal or less than 5.0 cm. There is no invasion of tissues outside the adrenal gland. (7th Ed, 2009)|NCI|N|
C3641698|Adrenal cancer with tumor size more than 5.0 cm. There is no invasion of tissues outside the adrenal gland. (7th Ed, 2009)|NCI|N|
C3641699|Adrenal cancer with tumor of any size. There is invasion of the fat that surrounds the adrenal gland. (7th Ed, 2009)|NCI|N|
C3641700|Adrenal cancer with tumor of any size. There is invasion of nearby organs such as the kidney, pancreas, spleen or liver. (7th Ed, 2009)|NCI|N|
C3641701|A pathologic finding about one or more characteristics of adrenal cancer, following the rules of the ENSAT staging v7 classification system as they pertain to staging of the lymph nodes.|NCI|N|
C3641702|Adrenal cancer with no involvement of regional lymph nodes. (7th Ed, 2009)|NCI|N|
C3641703|Adrenal cancer with involvement of regional lymph nodes. (7th Ed, 2009)|NCI|N|
C3641704|A clinical finding about one or more characteristics of adrenal cancer, following the rules of the ENSAT staging v7 classification system.|NCI|N|
C3641705|A clinical finding about one or more characteristics of adrenal cancer, following the rules of the ENSAT staging v7 classification system as they pertain to distant metastases.|NCI|N|
C3641706|Adrenal cancer with no involvement of distant organs or tissues. (7th Ed, 2009)|NCI|N|
C3641707|Adrenal cancer with involvement of distant organs or tissues such as liver, bone or brain. (7th Ed, 2009)|NCI|N|
C3641709|Stage I includes: T1, N0, M0. Tumor 5 cm or less in greatest dimension. The tumor has not invaded the surrounding tissues or organs and has not spread to lymph nodes or distant organs or tissues. (ENSAT 7th Ed, 2009)|NCI|N|
C3641710|Stage II includes: T2, N0, M0. Tumor greater than 5 cm. The tumor has not invaded surrounding tissues or organs and has not spread to lymph nodes or distant organs or tissues. (ENSAT 7th Ed, 2009)|NCI|N|
C3641711|Stage III includes: T3/T4, N0/N1, M0. Tumor of any size that has spread to the fat outside the adrenal gland or into nearby organs or tissues and/or has spread to the regional lymph nodes. (ENSAT 7th Ed, 2009)|NCI|N|
C3641712|Stage IV includes: Any T, Any N, M1. Tumor of any size that involves distant organs such as liver, bone or brain. The tumor may or may not involve nearby organs, tissues or lymph nodes. (ENSAT 7th Ed, 2009)|NCI|N|
C3641766|Of especially low value or worth.|NCI|N|
C3641779|A microscopic finding indicating that a tumor exhibits more than one line of histologic differentiation.|NCI|N|
C3641826|Intensely at odds.|NCI|N|
C3641827|To concur.|NCI|N|
C3641828|To be at odds.|NCI|N|
C3641845|A response indicating the something is as bad as can be expected or imagined.|NCI|N|
C3641849|A molecular genetic abnormality indicating the presence of a mutation in exon 11 of the KIT gene located within 4q11-q12.|NCI|N|
C3641850|A molecular genetic abnormality indicating the presence of a mutation in exon 9 of the KIT gene located within 4q11-q12.|NCI|N|
C3641851|A molecular genetic abnormality indicating the presence of a mutation in exon 13 of the KIT gene located within 4q11-q12.|NCI|N|
C3641869|Problems with the RF wireless technology characteristics and performance (e.g., frequency, output power, range, reception), wireless quality of service, wireless coexistence, security of wireless signals and data, and electromagnetic compatibility.|NCI|N|
C3642254|A rapidly growing serous adenocarcinoma that arises from the ovary. It is characterized by the presence of high grade cytologic features and frequent mitotic figures.|NCI|N|
C3642255|A slow-growing serous adenocarcinoma that arises from the ovary. It usually originates from borderline neoplastic processes or adenofibromas. It is characterized by the presence of low grade cytologic features and infrequent mitotic figures.|NCI|N|
C3642304|A non-neoplastic abnormality that affects the placenta. Representative examples include multi-lobed and bilobed placenta.|NCI|N|
C3642314|An electrocardiographic finding of pathologic Q waves in leads V3 through V6, which is suggestive of myocardial infarction of the anterolateral wall of the left ventricle. (CDISC)|NCI|N|
C3642315|An electrocardiographic finding of pathologic Q waves in leads V1 through V4, which is suggestive of myocardial infarction of the anteroseptal wall of the left ventricle. (CDISC)|NCI|N|
C3642316|An electrocardiographic finding in leads V1 or V2 of an initial R wave duration greater than or equal to 40 ms, R wave greater than S wave, and upright T wave, which is suggestive of myocardial infarction of the posterior wall of the left ventricle. Evidence of inferior or lateral myocardial infarction is usually also present. (CDISC)|NCI|N|
C3642317|An electrocardiographic finding of pathologic Q waves in leads V5, V6, I and aVL, which is suggestive of myocardial infarction of the lateral wall of the left ventricle. (CDISC)|NCI|N|
C3642318|An electrocardiographic finding of an injury in leads corresponding to the anatomic region of the posteroinferior wall of the heart.|NCI|N|
C3642319|An electrocardiographic finding of an injury in leads corresponding to the anatomic region of the apex of the heart.|NCI|N|
C3642323|A morphologic finding indicating the presence of myxoid changes in a tissue sample.|NCI|N|
C3642324|A benign mesonephric neoplasm that arises from the broad or other uterine ligaments and occurs in women with von Hippel-Lindau disease. It is a cystic lesion characterized by the presence of multiple papillary excrescences.|NCI|N|
C3642326|A rare sarcoma that arises from the cervix. This category includes low grade endometrioid stromal sarcoma and undifferentiated endocervical sarcoma.|NCI|N|
C3642327|A very rare sarcoma that arises from the cervix and is characterized by the presence of cells that resemble endometrial stromal cells.|NCI|N|
C3642329|A rare sarcoma that arises from the vagina. This category includes low grade endometrioid stromal sarcoma and undifferentiated vaginal sarcoma.|NCI|N|
C3642330|An infiltrating sarcoma that arises from the vagina. It is characterized by the presence of cells that resemble endometrial stromal cells.|NCI|N|
C3642344|A header term that includes the following breast carcinoma subtypes determined by gene expression profiling: luminal A breast carcinoma, luminal B breast carcinoma, HER2 positive breast carcinoma, basal-like breast carcinoma, triple-negative breast carcinoma, and normal breast-like subtype of breast carcinoma.|NCI|N|
C3642345|A biologic subset of breast carcinoma defined by high expression of genes characteristic of luminal epithelial cells, including estrogen receptor (ER), estrogen regulated protein LIV-1, and the transcription factors hepatocyte nuclear factor 3, HNF3A, XBP1, and GATA 3. This subtype of breast cancer is associated with a good prognosis.|NCI|N|
C3642346|A biologic subset of breast carcinoma defined by low to moderate expression of genes characteristic of luminal epithelial cells including estrogen receptor (ER), and high expression of GGH, LAPTM4B, and CCNE1. This subtype of breast cancer is associated with a good prognosis, although not as favorable as the luminal A subtype.|NCI|N|
C3642347|A biologic subset of breast carcinoma defined by high expression of genes characteristic of basal epithelial cells, including KRT5 and KRT17, annexin 8, CX3CL1, and TRIM29, and usually by lack of expression of the estrogen receptor (ER), progesterone receptor (PR), and human epidermal growth factor receptor 2 (HER2). It is the most common subtype of breast cancer associated with BRCA1 mutations, and is associated with a poor prognosis.|NCI|N|
C3642433|The reemergence of uterine corpus sarcoma after a period of remission.|NCI|N|
C3642460|Withdrawal signs and symptoms that present during the perinatal period and are caused by drug use by the pregnant mother.|NCI|N|
C3642463|An electrocardiographic finding of an injury in leads corresponding to the anatomic region of the posterolateral wall of the heart.|NCI|N|
C3642471|A biologic subset of breast carcinoma defined by high expression of many genes expressed by adipose and other non-epithelial tissues.|NCI|N|
C3642475|A sensation of discomfort or distress that worries an individual or interrupts their ability to complete desired activities.|NCI|N|
C3642476|An electrocardiographic finding of an injury in leads corresponding to the anatomic region of the subendocardial layer of the wall of the heart.|NCI|N|
C3642483|Intense concurrence.|NCI|N|
C3645536|A rare autosomal recessive congenital myopathy characterized by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy including facial weakness, ocular abnormalities (ptosis and external ophthalmoplegia) and predominant proximal muscle weakness of variable severity with possible distal involvement.|ORDO|N|
C3646072|The condition of a stem cell transplant.|NCI|N|
C3647115|A papule (circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point) that exhibits increased pigmentation (is darker) compared to the surrounding skin.|HPO|N|
C3647143|The spread of a malignant neoplasm to the ovary. This may be from a primary ovarian malignant neoplasm involving the opposite ovary, or from a malignant neoplasm at a distant site.|NCI|N|
C3647360|A nodule of the skin that exhibits an increased amount of pigmentation.|HPO|N|
C3647833|A grade 3 follicular lymphoma composed of solid sheets of centroblasts.|NCI|N|
C3647834|A grade 3 follicular lymphoma in which centrocytes are present.|NCI|N|
C3649636|A disease that has its basis in the disruption of heart development.|MONDO|N|
C3649652|Congenital absence of both lower leg and foot is a rare, non-syndromic, terminal transverse limb reduction defect characterized by unilateral or bilateral absence of both the tibia and the fibula, as well as the distal elements composing the foot.|ORPHANET|N|
C3650397|A finding of adult T-cell leukemia/lymphoma that is not growing and responds to treatment.|NCI|N|
C3650731|Disclosing information about oneself that is seen as a violation of social norms.|SNOMEDCT_US|N|
C3658208|Changes in quantitative and qualitative composition of MICROBIOTA. The changes may lead to altered host microbial interaction or homeostatic imbalance that can contribute to a disease state often with inflammation.|MSH|N|
C3658220|Long-term changes in the electrophysiological parameters and/or anatomical structures of the HEART ATRIA that result from prolonged changes in atrial rate, often associated with ATRIAL FIBRILLATION or long periods of intense EXERCISE.|MSH|N|
C3658248|A screening phenotype consisting of both elevated WAIST CIRCUMFERENCE and elevated fasting TRIGLYCERIDES level.|MSH|N|
C3658261|FEVER accompanied by a significant reduction in NEUTROPHIL count associated with CHEMOTHERAPY.|MSH|N|
C3658267|Tumors or cancer of the PROSTATE which can grow in the presence of low or residual amount of androgen hormones such as TESTOSTERONE.|MSH|N|
C3658283|A delusional disorder of belief in infestation by insects or other parasites. This FORMICATION is typically accompanied by dermatological manifestation such as PRURITUS that may lead to self-mutilation in order to remove the perceived parasites. It can be either primary or secondary to a somatic or psychiatric condition.|MSH|N|
C3658299|A group of conditions with overlapping signs and symptoms. It includes Zellweger syndrome, neonatal adrenoleukodystrophy, and infantile Refsum disease.|NCI|N|
C3658302|An acute and severe skin disease with clinical and histological features of destruction and detachment of the skin epithelium and mucous membranes. Onset may occur at any age, but the risk increases after 40 years. Three subforms have been described according to the percentage of the body surface area affected: Stevens-Johnson syndrome (less than 10%), Lyell syndrome (greater than 30%) and an intermediate form (10-29%). The initial manifestations are nonspecific: a seemingly banal rash, fever, and a burning sensation involving the eyes, mouth and genitalia. The rash rapidly progresses to become vesicular and bullous on the face and body. High fever is a constant feature. Two thirds of cases are triggered by a drug allergy. In rare cases, the disease is associated with infections or bone marrow transplantation. The remaining 25-30% of cases are classed as idiopathic. The prognosis for patients with extensive forms is poor.|SNOMEDCT_US|N|
C3658315|The conditions in which people are born, grow, live, work and age. They include socioeconomic status, education, neighborhood and physical environment, employment, and social support networks, as well as access to health care.|NCI|N|
C3658353|Unexplained neurologic condition characterized by episodes of atonic seizures, convulsions or staring spells with further cognitive decline.|MSH|N|
C3661439|Hashimoto-Pritzker histiocytosis (HPH) is a variant of Langerhans cell histiocytosis characterized by multiple disseminated skin lesions (firm, red-brown, painless papulo-nodules).|MONDO|N|
C3661483|A fetal alcohol spectrum disorder that results in most, but not all, of the growth deficiency and/or craniofacial features of fetal alcohol syndrome including central nervous system dysfunction due to prenatal alcohol exposure.|MONDO|N|
C3661878|Severe mucocutaneous reactions; skin detachment of 10 to 30 percent of body surface area most commonly triggered by medications, characterized by extensive necrosis and detachment of the epidermis.|SNOMEDCT_US|N|
C3661900|The term 'not provided' is registered in MedGen to support identification of submissions to ClinVar for which no condition was named when assessing the variant. 'not provided' differs from 'not specified', which is used when a variant is asserted to be benign, likely benign, or of uncertain significance for conditions that have not been specified.|NCBI curation|N|
C3662013|A structurally abnormal heart condition, without symptoms of heart failure, that confers a high risk of progression to symptomatic heart failure.|SNOMEDCT_US|N|
C3662124|The presence of an upwardly displaced normal cerebellar vermis, normal appearance of the fastigium, tentorium and size of the cisterna magna.|HPO|N|
C3662133|Itching sensation referred to a site distant from the stimulation site.|SNOMEDCT_US|N|
C3662139|A disease or disorder that involves the extraembryonic membrane.|MONDO|N|
C3662243|A propensity to developing an adverse reaction upon exposure to an agent at a dose otherwise tolerated by normal individuals. Revised nomenclature for allergy for global use:Report of the Nomenclature Review Committee of the World Allergy Organization, October 2003.|SNOMEDCT_US|N|
C3662262|A pathological nonimmune process generally directed towards a foreign substance, which results in tissue injury, which is usually transient. It is the realization of the pseudoallergic disposition. A variety of mechanisms such as direct histamine release, complement activation, cyclooxygenase activation and bradykinin generation may be involved.|SNOMEDCT_US|N|
C3662264|The disposition to develop a pseudoallergic reaction, the pseudoallergic reaction itself or its consequences.|SNOMEDCT_US|N|
C3662265|A type of non-immune hypersensitivity process that represents the underlying mechanism of pseudoallergic conditions.|SNOMEDCT_US|N|
C3662271|The disposition to develop a pseudoallergic reaction.|SNOMEDCT_US|N|
C3662279|A condition that confers a high risk of progression to actual heart failure but lacks actual structural or functional disorder of the heart.|SNOMEDCT_US|N|
C3662284|Acceptance of treatment; cautious behavior at times; willingness to comply with the dentist, at times with reservation, but patient follows the direct of the dentist cooperatively.|SNOMEDCT_US|N|
C3662289|Refusal of treatment, forceful crying, fearfulness, or any other overt evidence of extreme negativism.|SNOMEDCT_US|N|
C3662290|Reluctance to accept treatment, uncooperative, some evidence of negative attitude but not pronounced (sullen, withdrawn).|SNOMEDCT_US|N|
C3662304|Good rapport with the dentist, interest in the dental procedures, laughter and enjoyment.|SNOMEDCT_US|N|
C3662483|A process characterised by an initial humoral or cell-mediated immune response to a foreign antigen resulting in the production of specific antibodies and/or immune cells which may then lead to an allergic disposition.|SNOMEDCT_US|N|
C3662487|A rare systemic autoimmune disease characterized by acute onset of life-threatening thromboses in three or more organs either simultaneously or within less than a week, in the presence of serum antiphospholipid antibodies (such as lupus anticoagulant, anticardiolipin antibodies, and anti-beta2-glycoprotein 1 antibodies), and with histopathological confirmation of small-vessel occlusion in at least one affected organ. The condition occurs in a small subset of patients with antiphospholipid syndrome, often precipitated by infection, trauma, or surgery.|ORDO|N|
C3662853|Migraine triggered by an allergic inflammatory process.|SNOMEDCT_US|N|
C3665333|A rare congenital ectodermal disorder characterized by vascularizing keratitis, hyperkeratotic skin lesions and hearing loss. Patients usually present at birth with generalized erythema and ichthyosiform scaling. The skin manifestations are progressive with erythrokeratoderma characterized by well-demarcated erythematous and keratotic plaques with a verrucous appearance predominantly located on the face, scalp, ears, elbows and knees. Hearing loss is congenital, usually sensorineural and is often profound. Caused by mutations involving the N-terminus and first extracellular loop of the GJB2 gene (13q11-q12), encoding connexin-26. Most of the reported cases are sporadic, but familial cases with autosomal dominant inheritance have been reported.|SNOMEDCT_US|N|
C3665335|Cutis laxa is a collection of disorders that are typified by loose and/or wrinkled skin that imparts a prematurely aged appearance. Face, hands, feet, joints, and torso may be differentially affected. The skin lacks elastic recoil, in marked contrast to the hyperelasticity apparent in classical Ehlers-Danlos syndrome (see 130000). These properties are nearly always attributable to loss, fragmentation, or severe disorganization of dermal elastic fibers (summary by Davidson and Giro, 2002).
The clinical spectrum of autosomal recessive cutis laxa is highly heterogeneous with respect to organ involvement and severity. Type I autosomal recessive cutis laxa (ARCL1) is a specific, life-threatening disorder with organ involvement, lung atelectasis and emphysema, diverticula of the gastrointestinal and genitourinary systems, and vascular anomalies. Associated cranial anomalies, late closure of the fontanel, joint laxity, hip dislocation, and inguinal hernia have been observed but are uncommon. Diminution of elastic fibers throughout the dermis and abnormal elastin components by electron microscopy are pathognomonic (summary by Morava et al., 2009).
Classification of autosomal recessive cutis laxa is further divided into type II (ARCL2), associated with bone dystrophy, joint laxity, and developmental delay; and type III (ARCL3), or de Barsy syndrome, which presents very severe symptoms, with ocular involvement and mental retardation (summary by Davidson and Giro, 2002).
For a phenotypic description and a discussion of genetic heterogeneity of autosomal dominant cutis laxa, see 123700.
Genetic Heterogeneity of Autosomal Recessive Cutis Laxa
Also see ARCL1B (614437), caused by mutation in the FBLN4 gene (EFEMP2; 604633); ARCL1C (613177), caused by mutation in the LTBP4 gene (FAM72A; 614710); and ARCL1D (620780), caused by mutation in the FBLN3 gene (EFEMP1; 601548).
ARCL2A (219200) is caused by mutation in the ATP6V0A2 gene (611716). ARCL2B (612940) is caused by mutation in the PYCR1 gene (179035). ARCL2C (617402) is caused by mutation in the ATP6V1E1 gene (108746). ARCL2D (617403) is caused by mutation in the ATP6V1A gene (607027). ARCL2E (619451) is caused by mutation in the LTBP1 gene (150390).
ARCL3A (219150) is caused by mutation in the ALDH18A1 gene (138250). ARCL3B (614438) is caused by mutation in the PYCR1 gene (179035).|OMIM|N|
C3665342|Inherited progressive cone degeneration.|HPO|N|
C3665346|A condition in which the ability to see is impaired.|NCI|N|
C3665347|Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.|HPO|N|
C3665349|A type of hypothyroidism that results from a defect in thyroid-stimulating hormone secretion.|HPO|N|
C3665358|Excessive secretion of breast milk.|NCI|N|
C3665365|Cardiovascular disease resulting from arteriosclerosis.|NCI|N|
C3665386|Loss of visual acuity (implying that vision was better at a certain time point in life). Otherwise the term reduced visual acuity should be used (or a subclass of that).|HPO|N|
C3665405|A malignant neoplasm arising from the great vessels.|NCI|N|
C3665425|A rare hemoglobinopathy characterized by the presence of hemoglobin variants with structural abnormalities in the globin portion of the molecule which lead to auto-oxidation of heme iron, resulting in methemoglobinemia. Patients present with cyanosis for which no treatment is necessary. Mode of inheritance is autosomal dominant.|ORDO|N|
C3665426|A disease that involves the nerve fiber layer of retina.|MONDO|N|
C3665439|A cataract that produces swelling and opacity of the entire lens; cataracts are removed before maturity.|MONDO|N|
C3665473|Partial or total inability to hear sounds in both ears.|NCI|N|
C3665488|Patients with SSOAD exhibit a broad phenotypic spectrum involving short stature associated with advanced bone maturation and early-onset osteoarthritis (OA), as well as mild dysmorphic features consisting of midface hypoplasia, brachydactyly, broad great toes, and lumbar lordosis. Other features include intervertebral disc disease and osteochondritis dissecans, which is characterized by separation of articular cartilage and subchondral bone from the articular surface. Phenotypes are highly variable even among patients within the same family, and there are no apparent genotype-phenotype correlations (Dateki et al., 2017).
The term 'dissecans' comes from 'dis' meaning 'from' and 'secare' meaning 'cut off,' and is not to be confused with 'desiccans' derived from 'desiccare' meaning to 'dry up.' Dissecans refers to the appearance of part of the bone having been cut away.|OMIM|N|
C3665489|An uncommon epithelial ovarian neoplasm, distinguished from ovarian carcinomas by the absence of destructive stromal invasion, generally characterised by indolent behaviour and excellent prognosis. Most patients are asymptomatic at the time of diagnosis, and the symptoms, if present, are often nonspecific and vague, such as pelvic pain, abdominal mass or, rarely, gastrointestinal problems including early satiety or bloating. Six histological subtypes are currently recognised, based on the epithelial cell type.|SNOMEDCT_US|N|
C3665496|A heart or vascular abnormality which is inborn or present at birth.|NCI|N|
C3665593|A nevus characterised by the presence of excessive pigment.|NCI|N|
C3665596|Warts, benign growths on the skin or mucous membranes that cause cosmetic problems as well as pain and discomfort. Warts most often occur on the hands, feet, and genital areas.|HPO|N|
C3665608|Asymptomatic separation of the uterine wall, usually at the site of a prior uterine scar, that does not include the overlying serosa.|NCI|N|
C3665670|A primary or metastatic malignant neoplasm that affects the choroid, ciliary body, or iris.|NCI|N|
C3665704|Ichthyosis with confetti (IWC), also known as congenital reticular ichthyosiform erythroderma (CRIE), is a rare skin condition characterized by slowly enlarging islands of normal skin surrounded by erythematous ichthyotic patches in a reticulated pattern. The condition starts in infancy as a lamellar ichthyosis, with small islands of normal skin resembling confetti appearing in late childhood and at puberty. Histopathologic findings include band-like parakeratosis, psoriasiform acanthosis, and vacuolization of keratinocytes with binucleated cells in the upper epidermis, sometimes associated with amyloid deposition in the dermis. Ultrastructural abnormalities include perinuclear shells formed from a network of fine filaments in the upper epidermis (summary by Krunic et al., 2003).|OMIM|N|
C3665732|A morphologic variant of dermatofibrosarcoma protuberans characterized by the presence of a fibrosarcomatous component.|NCI|N|
C3665783|A type of shock characterized by inadequate cardiac preload due to obstructed venous return (e.g. pericardial tamponade, tension pneumothorax, abdominal compartment) or obstruction of arterial blood flow (e.g. pulmonary embolism).|HPO|N|
C3665812|A rare retinal vasculopathy disease characterized by idiopathic retinal vasculitis (IRV), aneurysmal dilations (A) at arteriolar bifurcations and neuroretinitis (N), which if untreated progresses to peripheral capillary non-perfusion retinal neovascularization and macular exudation, leading to severe bilateral vision loss.|SNOMEDCT_US|N|
C3665873|An increase in the length of time required for food to pass through the intestines.|HPO|N|
C3665983|Reluctance or refusal of a child to be breastfed or eat, manifested as gagging, vomiting, turning head away from food, or avoidance of sensation in or around the mouth (i.e. toothbrushing or face-washing).|HPO|N|
C3666010|Infections by the same infectious agent (e.g., virus, fungus) occurring during exposure to prophylaxis, vaccine and treatment.|MSH|N|
C3668940|The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). The mild end of the spectrum includes the phenotypes of asymptomatic increase in serum concentration of creatine phosphokinase (CK) and muscle cramps with myoglobinuria. The severe end of the spectrum includes progressive muscle diseases that are classified as Duchenne/Becker muscular dystrophy when skeletal muscle is primarily affected and as DMD-associated DCM when the heart is primarily affected. Duchenne muscular dystrophy (DMD) usually presents in early childhood with delayed motor milestones including delays in walking independently and standing up from a supine position. Proximal weakness causes a waddling gait and difficulty climbing stairs, running, jumping, and standing up from a squatting position. DMD is rapidly progressive, with affected children being wheelchair dependent by age 12 years. Cardiomyopathy occurs in almost all individuals with DMD after age 18 years. Few survive beyond the third decade, with respiratory complications and progressive cardiomyopathy being common causes of death. Becker muscular dystrophy (BMD) is characterized by later-onset skeletal muscle weakness. With improved diagnostic techniques, it has been recognized that the mild end of the spectrum includes men with onset of symptoms after age 30 years who remain ambulatory even into their 60s. Despite the milder skeletal muscle involvement, heart failure from DCM is a common cause of morbidity and the most common cause of death in BMD. Mean age of death is in the mid-40s. DMD-associated DCM is characterized by left ventricular dilation and congestive heart failure. Females heterozygous for a DMD pathogenic variant are at increased risk for DCM.|GeneReviews|N|
C3668942|The FLNB disorders include a spectrum of phenotypes ranging from mild to severe. At the mild end are spondylocarpotarsal synostosis (SCT) syndrome and Larsen syndrome; at the severe end are the phenotypic continuum of atelosteogenesis types I (AOI) and III (AOIII) and Piepkorn osteochondrodysplasia (POCD). SCT syndrome is characterized by postnatal disproportionate short stature, scoliosis and lordosis, clubfeet, hearing loss, dental enamel hypoplasia, carpal and tarsal synostosis, and vertebral fusions. Larsen syndrome is characterized by congenital dislocations of the hip, knee, and elbow; clubfeet (equinovarus or equinovalgus foot deformities); scoliosis and cervical kyphosis, which can be associated with a cervical myelopathy; short, broad, spatulate distal phalanges; distinctive craniofacies (prominent forehead, depressed nasal bridge, malar flattening, and widely spaced eyes); vertebral anomalies; and supernumerary carpal and tarsal bone ossification centers. Individuals with SCT syndrome and Larsen syndrome can have midline cleft palate and hearing loss. AOI and AOIII are characterized by severe short-limbed dwarfism; dislocated hips, knees, and elbows; and clubfeet. AOI is lethal in the perinatal period. In individuals with AOIII, survival beyond the neonatal period is possible with intensive and invasive respiratory support. Piepkorn osteochondrodysplasia (POCD) is a perinatal-lethal micromelic dwarfism characterized by flipper-like limbs (polysyndactyly with complete syndactyly of all fingers and toes, hypoplastic or absent first digits, and duplicated intermediate and distal phalanges), macrobrachycephaly, prominant forehead, hypertelorism, and exophthalmos. Occasional features include cleft palate, omphalocele, and cardiac and genitourinary anomalies. The radiographic features at mid-gestation are characteristic.|GeneReviews|N|
C3668943|Fatty acid hydroxylase-associated neurodegeneration (FAHN) is characterized early in the disease course by central nervous system involvement including corticospinal tract involvement (spasticity), mixed movement disorder (ataxia/dystonia), and eye findings (optic atrophy, oculomotor abnormalities), and later in the disease course by progressive intellectual impairment and seizures. With disease progression, dystonia and spasticity compromise the ability to ambulate, leading to wheelchair dependence. Life expectancy is variable. FAHN is considered to be a subtype of neurodegeneration with brain iron accumulation (NBIA).|GeneReviews|N|
C3669021|An air bronchogram is a pattern of air-filled (low-attenuation) bronchi on a background of opaque (high-attenuation) airless lung. The sign implies (a) patency of proximal airways and (b) evacuation of alveolar air by means of absorption (atelectasis) or replacement (eg, pneumonia) or a combination of these processes. In rare cases, the displacement of air is the result of marked interstitial expansion (eg, lymphoma).|HPO|N|
C3669121|Decreased or absent activity of the enzyme 11-beta-hydroxylase caused by loss-of-function mutations in the CYP11B1 gene, resulting in congenital adrenal hyperplasia. Clinical manifestations of this condition include virilization in 46XX infants and hypertension.|NCI|N|
C3669395|X-linked chondrodysplasia punctata 1 (CDPX1) is characterized by chondrodysplasia punctata (stippled epiphyses), brachytelephalangy (shortening of the distal phalanges), and nasomaxillary hypoplasia. Although most affected males have minimal morbidity and skeletal findings that improve by adulthood, some have significant medical problems including respiratory involvement, cervical spine stenosis and instability, mixed conductive and sensorineural hearing loss, and intellectual disability.|GeneReviews|N|
C3670526|The lymph node or group of lymph nodes that drain a particular anatomic site or organ.|NCI|N|
C3670571|A rare condition characterized by hyperplasia and hypertrophy of the pituitary gland. It is caused by hypersecretion of hypothalamic stimulating hormones.|NCI|N|
C3670629|A form of hyperkeratosis characterized by thickening of the cornified layer without retained nuclei.|HPO|N|
C3670683|Excessive formation of fibrous bands of scar tissue in between muscle fibers.|HPO|N|
C3670763|Presence of edema in subcutaneous connective tissue.|NCI|N|
C3670821|An indication that the epiphyseal plate is made of hyaline cartilage and is not yet fused by bone.|NCI|N|
C3670925|Higher than normal levels of bicarbonate in the blood.|NCI|N|
C3671015|A nonparallel arrangement of cardiac myocytes.|HPO|N|
C3671554|Passage of an increased number of stools containing mucus, a thick fluid substance secreted by mucous membranes.|HPO|N|
C3671878|Urolithiasis in which the composition of the stones is predominantly cystine.|NCI|N|
C3671880|The presence of calcium- and phosphate-containing calculi (stones) in the kidneys.|HPO|N|
C3671887|An increased concentration of sodium(1+) in the urine.|HPO|N|
C3672035|An anomalous build up of copper (Cu) in the liver.|HPO|N|
C3683483|A rare disorder characterised by a slowly progressive pure cerebellar ataxia associated with dysarthria. It has been described in 53 individuals from 26 families of Canadian origin. The mode of transmission is autosomal recessive. Positional cloning has led to the identification of several &lt;i&lt;SYNE1&lt;/i&gt; gene mutations.|ORPHANET|N|
C3686582|A finding of an empty space in a histological section of paraffin-embedded tissue created by the dissolution of cholesterol crystals.|NCI|N|
C3686778|Hyperplasia of the biliary tree, as manifested by increased size of bile ducts, dilated lumen, and histologically by an increased number of epithelial cells or hyperplasia.|HPO|N|
C3686874|An accumulation of microglial cells in nervous tissue as a result of injury.|NCI|N|
C3687252|An inflammatory infiltrate composed exclusively or predominantly of eosinophils.|NCI|N|
C3693260|An abnormal amount of urine production.|HPO|N|
C3693299|Increased width of the uvula (subjective finding).|HPO|N|
C3693346|A longer or slower than expected, or desired, amount of time between onset of symptoms and initiation of therapy.|MSH|N|
C3693482|Dermatofibrosarcoma protuberans (DFSP) is an uncommon, locally aggressive, but rarely metastasizing tumor of the deep dermis and subcutaneous tissue. It typically presents during early or middle adult life and is most frequently located on the trunk and proximal extremities (Sandberg et al., 2003).|OMIM|N|
C3694279|A viral respiratory infection that is caused by the MERS coronavirus (MERS-CoV), which most often manifests with moderate to severe respiratory symptoms, including productive cough and shortness of breath, which can progress to pneumonia and acute respiratory distress syndrome.|NCI|N|
C3694531|Phosphorylase kinase (PhK) deficiency causing glycogen storage disease type IX (GSD IX) results from deficiency of the enzyme phosphorylase b kinase, which has a major regulatory role in the breakdown of glycogen. The two types of PhK deficiency are liver PhK deficiency (characterized by early childhood onset of hepatomegaly and growth restriction, and often, but not always, fasting ketosis and hypoglycemia) and muscle PhK deficiency, which is considerably rarer (characterized by any of the following: exercise intolerance, myalgia, muscle cramps, myoglobinuria, and progressive muscle weakness). While symptoms and biochemical abnormalities of liver PhK deficiency were thought to improve with age, it is becoming evident that affected individuals need to be monitored for long-term complications such as liver fibrosis and cirrhosis.|GeneReviews|N|
C3694685|A partial or complete breakage of the epiphysis of femur.|HPO|N|
C3695063|A subtype of Charcot-Marie-Tooth type 4 with characteristics of childhood onset of slowly progressing, demyelinating sensorimotor neuropathy, focally folded myelin sheaths in nerve biopsy, reduced nerve conduction velocities and the typical Charcot-Marie-Tooth phenotype (i.e. distal muscle weakness and atrophy, and sensory loss). There is evidence this disease is caused by homozygous or compound heterozygous mutation in the SBF1 gene on chromosome 22q.|SNOMEDCT_US|N|
C3695127|An astrocytoma that occurs in the brain.|NCI|N|
C3695318|Longstanding kidney disease as a complication of hypertension.|NCI|N|
C3696376|An increased amount of 3-methylglutaconic acid in the urine.|HPO|N|
C3696894|A benign, exophytic and polypoid growth that arises from the lips or oral cavity. It is covered by hyperplastic epithelium. Some cases are caused by human papillomavirus infection.|NCI|N|
C3696898|Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is characterized by clusters of nocturnal motor seizures, which are often stereotyped and brief (5 seconds to 5 minutes). They vary from simple arousals from sleep to dramatic, often bizarre hyperkinetic events with tonic or dystonic features. Affected individuals may experience aura. Retained awareness during seizures is common. A minority of individuals experience daytime seizures. Onset ranges from infancy to adulthood. About 80% of individuals develop ADNFLE in the first two decades of life; mean age of onset is ten years. Clinical neurologic examination is normal and intellect is usually preserved, but reduced intellect, psychiatric comorbidity, or cognitive deficits may occur. Within a family, the manifestations of the disorder may vary considerably. ADNFLE is lifelong but not progressive. As an individual reaches middle age, attacks may become milder and less frequent.|GeneReviews|N|
C3696916|Where a significant amount of gingival tissue can be seen as a person smiles.|SNOMEDCT_US|N|
C3696954|Pre-capillary pulmonary hypertension is a haemodynamic condition characterized by elevated mean pulmonary artery pressure (mPAP over 20 mmHg) and pulmonary vascular resistance (PVR 3 Wood units or more) accompanied by normal pulmonary artery wedge pressure (PAWP not more than 15 mmHg).|HPO|N|
C3696967|Severe life-threatening illness resulting from infection, usually meningitis or sepsis, in an individual lacking a spleen, whether congenital asplenia or post-splenectomy.|SNOMEDCT_US|N|
C3696981|A primary or metastatic malignant neoplasm that affects the paratesticular structures.|NCI|N|
C3696995|Occurs where the relationship between the teeth of a normal jaw and a complete denture (or between two complete dentures) is not harmonious.|SNOMEDCT_US|N|
C3697021|A rare lesion characterized by multiple non-neoplastic nodular proliferations composed of cells with abundant granular eosinophilic cytoplasm (oncocytes) and/or clear cytoplasm (clear cells) in one or both parotid glands. (WHO 2017)|NCI|N|
C3697069|Enlargement of the parotid gland due to air insufflation.|SNOMEDCT_US|N|
C3697076|A difference in the height of the marginal edges of adjacent teeth.|SNOMEDCT_US|N|
C3697119|Pulmonary arterial hypertension associated with congenital heart disease (PAH-CHD) is a form of pulmonary arterial hypertension (PAH, see this term), characterized by elevated pulmonary arterial resistance leading to right heart failure occurring as a common complication of congenital heart malformations (see this term) with left to right cardiac shunts. Eisenmenger syndrome (see this term) is the most advanced form of PAH-CHD and is defined as the complete or partial reversal of an initial left-to-right shunt to a right-to-left shunt, causing cyanosis and limited exercise capacity. PAH-CHD also includes mild to moderate systemic-to-pulmonary shunts with no cyanosis at rest, patients with small defects, and those with residual PAH following corrective cardiac surgery.|ORDO|N|
C3697137|Mazabraud syndrome is a rare primary bone dysplasia (see this term) characterized by the association of fibrous dysplasia with intramuscular myxomas. Fibrous dysplasia (usually polyostotic, sometimes monostotic) occurs during the growth period and can be asymptomatic or can present with pain, skeletal deformities or fractures while intramuscular myxoma, associated with polyostotic fibrous dysplasia (see this term) is usually multifocal, typically occuring in the vicinity of skeletal lesions, and presents in adulthood as a painless soft-tissue mass (most commonly in the thigh). Although it is a benign condition, local recurrences of myxomas after incomplete excision and malignant transformation of a fibrous dysplastic lesion into osteogenic sarcoma have been reported.|ORDO|N|
C3697171|Making vocal utterances that are distressing sounding and socially inappropriate due to their intensity, frequency, duration and/or setting, as a manifestation of some form of brain disease, usually dementia.|SNOMEDCT_US|N|
C3697182|An artificial connection from artery to vein that can sustain three consecutive two-needle cannulations with no infiltrations at the prescribed needle gauge and blood flow rate.|SNOMEDCT_US|N|
C3697219|Impairments of brain function, the nerve or spinal cord that affect a specific region of the body.|NCI|N|
C3697248|Decreased vertical distance from the vermilion border of the lower lip to the inferior-most point of the chin.|HPO|N|
C3697269|15q24 microdeletion syndrome is a rare chromosomal anomaly characterized cytogenetically by a 1.7-6.1 Mb deletion in chromosome 15q24 and clinically by pre- and post-natal growth retardation, intellectual disability, distinct facial features, and genital, skeletal, and digital anomalies.|ORPHANET|N|
C3697355|A microdeletion at 16p11.2, characterized by a predisposition to obesity, developmental delay and autism spectrum disorders.|NCI|N|
C3697376|An inherited syndrome of skeletal and retinal malformations with early blindness as well as cataracts and retinal detachment.|SNOMEDCT_US|N|
C3697381|Median cleft of the upper lip and maxilla is a rare, congenital, developmental defect during embryogenesis characterized by a midline vertical cleft through the upper lip and premaxillary bone (can also involve the nasal septum and central nervous system). The phenotypic spectrum is highly variable (ranging from a simple vermillion notch to a wide complete cleft) and hypo/hypertelorism, telecanthus, monophthalmia, flat or cleft nose, wide columella, median alveolar cleft and cranial malformations may be associated.|ORDO|N|
C3697477|Pulmonary arterial hypertension associated with schistosomiasis (PAHS) is a form of pulmonary arterial hypertension (see this term) characterized by an elevated pulmonary arterial resistance leading to right heart failure, observed as a complication of a chronic schistosomiasis (see this term).|ORDO|N|
C3697516|Caries in which the lesion has removed so much of the crown that its original site of initiation cannot be determined with any certainty.|SNOMEDCT_US|N|
C3697647|A rare benign pseudocyst that extends into the submandibular space and is associated with mucus extravasation that can occur spontaneously or as the result of trauma or obstruction to the salivary gland excretory duct and spillage of mucin into the surrounding soft tissues.|SNOMEDCT_US|N|
C3697648|Characterised by upper and lower incisors that have emerged forward making the teeth and lips protrude.|SNOMEDCT_US|N|
C3697670|Spinal myoclonus is generally due to a tumor, infection, injury, or degenerative process of the spinal cord, and is characterized by involuntary rhythmic muscle contractions, usually at a rate of more than one per second. Myoclonus occurs synchronously in several muscles and can be increased in severity and frequency by fatigue or stress, but is usually unaffected by sensory stimuli. Spinal myoclonus ceases during sleep or anesthesia.|HPO|N|
C3697673|A form of pulmonary arterial hypertension characterized by elevated pulmonary arterial resistance leading to right heart failure observed as a complication of HIV infection.|ORDO|N|
C3697776|Warty leukoplakia on the oral mucosa. It is associated with a high risk for malignant transformation.|NCI|N|
C3697841|A hemangioma that arises from a salivary gland. It occurs almost exclusively in the parotid gland.|NCI|N|
C3697906|Death resulting from previously existing disease or a disease developing during pregnancy which was not associated with gestation, but which was aggravated by the unique physiologic changes of pregnancy. Examples of indirect deaths include those associated with epilepsy, diabetes, cardiac disease and hormone-dependent malignancies.|NCI|N|
C3697982|A form of pulmonary arterial hypertension (PAH) characterized by an elevated pulmonary arterial resistance leading to right heart failure observed as a complication of a connective tissue disease.|ORDO|N|
C3698087|An inflammatory necrotising lesion occurring in minor salivary glands.|SNOMEDCT_US|N|
C3698095|Silent sinus syndrome is characterised by adult-onset progressive enophthalmos due to collapse of some or all of the maxillary sinus walls.|ORDO|N|
C3698122|Ewing sarcoma characterized by the presence of large malignant cells with prominent nucleoli and irregular contours.|NCI|N|
C3698124|A form of altered taste sensation in which the affected person perceives a taste, usually an unpleasant one, in the absence of a corresponding stimulus in the environment.|HPO|N|
C3698135|Mixture of fat and blood in a joint cavity following trauma.|SNOMEDCT_US|N|
C3698186|A disorder that affects the myocardial ion channels, altering the electrical properties of the heart and changing the ECG and/or predisposing the subject to pro-arrhythmic events.|SNOMEDCT_US|N|
C3698239|Cortical myoclonus mainly affects the distal upper limbs and face, which reflects the largest cortical representations of these body areas. It is often focal, but may be multifocal, bilateral or generalized, as a consequence of intracortical and transcallosal spreading of abnormal activity. It typically occurs on voluntary action and may affect speech and gait. Cortical myoclonic jerks are stimulus sensitive, typically to touch, but sensitivity to visual stimuli is also described. Most patients with cortical myoclonus have both positive myoclonus and NM, occurring either independently or together as a complex of the two kinds of myoclonus. If cortical myoclonus is prolonged and lasts for hours, days or weeks, it is called epilepsia partials continua and is considered to be a rare form of focal epileptic status. Focal cortical myoclonus almost always points to an underlining lesion of the sensori-motor cortex, which produces hyperexcitability (e.g. vascular, inflammatory or neoplastic).|HPO|N|
C3698285|Bleeding into the tissue of the brain not due to a significant external force. Despite the word cerebral this includes all regions of brain tissue, not merely telencephalon.|SNOMEDCT_US|N|
C3698315|Pulmonary arterial hypertension associated with chronic hemolytic anemia (PAH-CHA) is a form of PAH (see this term) characterized by an elevated pulmonary arterial resistance leading to right heart failure observed as a complication of chronic hemolytic anemia.|ORDO|N|
C3698324|A disorder in which there is abnormal electrical activity in the heart associated with a genetic disorder.|SNOMEDCT_US|N|
C3698326|Superficial chemical burn or reaction to the detergent or flavouring compounds associated with use of certain brands of toothpastes.|SNOMEDCT_US|N|
C3698354|A disorder that constitutes a rare subgroup of rare pulmonary hypertension characterized by obliterative fibrosis of the small pulmonary veins and venules and/or capillary infiltration of the pulmonary interstitium leading to increased pulmonary vascular resistance and right ventricular dysfunction.|ORDO|N|
C3698372|Cemento-osseous dysplasia affecting a single tooth. (WHO 2017)|NCI|N|
C3698407|Presence of inflammation in the oral mucosa surrounding a dental implant without signs of any loss of supporting bone.|SNOMEDCT_US|N|
C3698479|PHACE is an acronym used to describe a syndrome characterised by the association of Posterior fossa brain malformations, large facial Haemangiomas, anatomical anomalies of the cerebral Arteries, aortic coarctation and other Cardiac anomalies, and Eye abnormalities. Sternal anomalies are also sometimes present, and in these cases the syndrome is referred to as PHACES. Two additional manifestations have recently been added to the clinical spectrum of PHACE syndrome: stenosis of the vessels at the base of the skull and segmental longitudinal dilations of the internal carotid artery.|ORPHANET|N|
C3698497|Thickening or cording of lymphatic tissues following axillary node biopsy or dissection.|SNOMEDCT_US|N|
C3698526|Rapidly developing osteoporosis characterised primarily by bone marrow oedema of a self-limiting nature.|SNOMEDCT_US|N|
C3698531|Segmental odontomaxillary dysplasia (SOD) is a rare disorder characterized by unilateral enlargement of the right or left maxillary alveolar bone and gingiva in the region from the back of the canines to the maxillary tuberosity. In the enlarged region, dental abnormalities such as missing teeth, abnormal spacing and delayed eruption occur.|ORDO|N|
C3698541|MED12-related disorders include the phenotypes of FG syndrome type 1 (FGS1), Lujan syndrome (LS), X-linked Ohdo syndrome (XLOS), Hardikar syndrome (HS), and nonspecific intellectual disability (NSID). FGS1 and LS share the clinical findings of cognitive impairment, hypotonia, and abnormalities of the corpus callosum. FGS1 is further characterized by absolute or relative macrocephaly, tall forehead, downslanted palpebral fissures, small and simple ears, constipation and/or anal anomalies, broad thumbs and halluces, and characteristic behavior. LS is further characterized by large head, tall thin body habitus, long thin face, prominent nasal bridge, high narrow palate, and short philtrum. Carrier females in families with FGS1 and LS are typically unaffected. XLOS is characterized by intellectual disability, blepharophimosis, and facial coarsening. HS has been described in females with cleft lip and/or cleft palate, biliary and liver anomalies, intestinal malrotation, pigmentary retinopathy, and coarctation of the aorta. Developmental and cognitive concerns have not been reported in females with HS. Pathogenic variants in MED12 have been reported in an increasing number of males and females with NSID, with affected individuals often having clinical features identified in other MED12-related disorders.|GeneReviews|N|
C3698555|Present when both the upper and lower jaws are posterior to the normal limits of the face.|SNOMEDCT_US|N|
C3710589|Cap myopathy is a very rare congenital myopathy presenting a weakness of facial and respiratory muscles associated with craniofacial and thoracic deformities, as well as weakness of limb proximal and distal muscles. Onset is at birth or in childhood, weakness progression is slow but may lead to a severe and even fatal prognosis.|ORDO|N|
C3711368|A rare, genetic, interstitial lung disease due to mutations in the CSF2R (colony-stimulating factor 2 receptor) alpha or beta subunits and characterized by alveolar accumulation of pulmonary surfactant, presenting a highly variable clinical presentation, ranging from asymptomatic to severe respiratory failure. Characteristic lung biopsy findings include periodic acid-Schiff-positive, granular eosinophilic material, enlarged foamy alveolar macrophages, and well-preserved alveolar walls. The Granulocyte-macrophage colony-stimulating factor (GM-CSF) receptor function is impaired but GM-CSF receptor autoantibodies are absent.|ORDO|N|
C3711370|A form of hereditary spastic paraplegia with onset usually in adulthood of progressive bilateral lower limb weakness and spasticity, sphincter dysfunction, decreased vibratory sense at the ankles and with additional manifestations including optical neuropathy, nystagmus, strabismus, decreased hearing, scoliosis, pes cavus, motor and sensory neuropathy, amyotrophy, blepharoptosis and ophthalmoplegia.|SNOMEDCT_US|N|
C3711371|An autosomal dominant condition caused by mutation(s) in the SPAST gene, encoding spastin. It is characterized by progressive lower extremity spasticity and weakness.|NCI|N|
C3711376|A chromosomal disorder with distinctive clinical findings characterized by early central hypotonia, developmental delay and intellectual deficit, epilepsy, and autistic behavior. Facial dysmorphism is absent or subtle and major malformations are rare. The syndrome is usually sporadic and not inherited and results from an abnormal extra chromosome in each cell containing mirror-image segments of genetic material. The isodicentric chromosome is made up of two extra copies of a segment of genetic material from chromosome 15, which is attached end-to-end. Typically this copied genetic material includes a region of the chromosome called 15q11-q13.|SNOMEDCT_US|N|
C3711381|CSF1R-related adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is characterized by executive dysfunction, memory decline, personality changes, motor impairments, and seizures. A frontal lobe syndrome (e.g., loss of judgment, lack of social inhibitors, lack of insight, and motor persistence) usually appears early in the disease course. The mean age of onset is usually in the fourth decade. Affected individuals eventually become bedridden with spasticity and rigidity. The disease course ranges from two to 30 or more years (mean: 8 years).|GeneReviews|N|
C3711382|Familial acute myeloid leukemia (AML) syndrome associated with biallelic CEBPA mutations. Patients typically present with AML as children or young adults. The familial form of AML with germline CEBPA mutation has morphological and immunophenotypic features similar to those of sporadic AML with CEBPA mutations. Overall, it has a favorable prognosis. (WHO 2017)|NCI|N|
C3711383|A clinically diverse group of rare eye disorders with genetic predisposition characterized by elevated intraocular pressure (IOP) and glaucomatous changes of the optic nerve head, leading to field defects, visual loss and blindness. It can be sub-classified as primary (congenital glaucoma, juvenile glaucoma) or secondary according to the presence or absence of systemic or other ocular anomalies (iridogoniodysgenesis, Stickler syndrome, Coats syndrome). The clinical presentation is variable and is based on age, severity of glaucoma, presence of ocular abnormalities and development of secondary IOP related abnormalities.|ORDO|N|
C3711384|A rare autosomal dominant distal hereditary motor neuropathy characterized by onset of slowly progressive distal limb weakness and atrophy between the second and fifth decades of life. Sensory involvement is typically less pronounced or absent. The severity of the condition is variable, and both lower and upper extremities may be involved.|ORDO|N|
C3711387|Autosomal recessive primary microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development with features of reduced head circumference at birth with no gross anomalies of brain architecture and variable degrees of intellectual impairment. It is more common in specific populations, e.g. northern Pakistanis. Consanguinity appears to play a role in incidence. Patients have a reduction in head circumference at birth of at least 2 standard deviations below ethnically matched, age- and sex-related mean values. Caused by mutations in MCPH1, WDR62, CDK5RAP2, CEP152, ASPM, CENPJ, STIL, CEP63, CEP135 , CASC5 and PHC1. These mutations appear to lead to reduced generation of cerebral cortical neurons during embryonic neurogenesis. Inheritance is autosomal recessive.|SNOMEDCT_US|N|
C3711389|Congenital myopathy-2A (CMYP2A) is an autosomal dominant disorder of the skeletal muscle characterized by infantile- or childhood-onset myopathy with delayed motor milestones and nonprogressive muscle weakness. Of the patients with congenital myopathy caused by mutation in the ACTA1 gene, about 90% carry heterozygous mutations that are usually de novo and cause the severe infantile phenotype (CMYP2C; 620278). Some patients with de novo mutations have a more typical and milder disease course with delayed motor development and proximal muscle weakness, but are able to achieve independent ambulation. Less frequently, autosomal dominant transmission of the disorder within a family may occur when the ACTA1 mutation produces a phenotype compatible with adult life. Of note, intrafamilial variability has also been reported: a severely affected proband may be identified and then mildly affected or even asymptomatic relatives are found to carry the same mutation. The severity of the disease most likely depends on the detrimental effect of the mutation, although there are probably additional modifying factors (Ryan et al., 2001; Laing et al., 2009; Sanoudou and Beggs, 2001; Agrawal et al., 2004; Nowak et al., 2013; Sewry et al., 2019; Laitila and Wallgren-Pettersson, 2021).
The most common histologic finding on muscle biopsy in patients with ACTA1 mutations is the presence of 'nemaline rods,' which represent abnormal thread- or rod-like structures ('nema' is Greek for 'thread'). However, skeletal muscle biopsy from patients with mutations in the ACTA1 gene can show a range of pathologic phenotypes. These include classic rods, intranuclear rods, clumped filaments, cores, or fiber-type disproportion, all of which are nonspecific pathologic findings and not pathognomonic of a specific congenital myopathy. Most patients have clinically severe disease, regardless of the histopathologic phenotype (Nowak et al., 2007; Sewry et al., 2019). ACTA1 mutations are the second most common cause of congenital myopathies classified histologically as 'nemaline myopathy' after mutations in the NEB gene (161650). ACTA1 mutations are overrepresented in the severe phenotype with early death (Laing et al., 2009).
For a discussion of genetic heterogeneity of congenital myopathy, see CMYP1A (117000).
For a discussion of genetic heterogeneity of nemaline myopathy, see NEM2 (256030).|OMIM|N|
C3711390|9q22.3 microdeletions also cause the characteristic features of Gorlin syndrome (also known as nevoid basal cell carcinoma syndrome). This genetic condition affects many areas of the body and increases the risk of developing various cancerous and noncancerous tumors. In people with Gorlin syndrome, the type of cancer diagnosed most often is basal cell carcinoma, which is the most common form of skin cancer. Most people with this condition also develop noncancerous (benign) tumors of the jaw, called keratocystic odontogenic tumors, which can cause facial swelling and tooth displacement. Other types of tumors that occur in some people with Gorlin syndrome include a form of childhood brain cancer called a medulloblastoma and a type of benign tumor called a fibroma that occurs in the heart or in a woman's ovaries. Other features of Gorlin syndrome include small depressions (pits) in the skin of the palms of the hands and soles of the feet; an unusually large head size (macrocephaly) with a prominent forehead; and skeletal abnormalities involving the spine, ribs, or skull.\n\nAbout 20 percent of people with a 9q22.3 microdeletion experience overgrowth (macrosomia), which results in increased height and weight compared to unaffected peers. The macrosomia often begins before birth and continues into childhood. Other physical changes that are sometimes associated with a 9q22.3 microdeletion include the premature fusion of certain bones in the skull (metopic craniosynostosis) and a buildup of fluid in the brain (hydrocephalus). Affected individuals can also have distinctive facial features such as a prominent forehead  with vertical skin creases, upward- or downward-slanting eyes, a short nose, and a long space between the nose and upper lip (philtrum).\n\nMany individuals with a 9q22.3 microdeletion have delayed development, particularly affecting the development of motor skills such as sitting, standing, and walking. In some people, the delays are temporary and improve in childhood. More severely affected individuals have permanent developmental disabilities along with intellectual impairment and learning problems. Rarely, seizures have been reported in people with a 9q22.3 microdeletion.\n\n9q22.3 microdeletion is a chromosomal change in which a small piece of chromosome 9 is deleted in each cell. The deletion occurs on the long (q) arm of the chromosome in a region designated q22.3. This chromosomal change is associated with delayed development, intellectual disability, certain physical abnormalities, and the characteristic features of a genetic condition called Gorlin syndrome.|MedlinePlus Genetics|N|
C3711645|Long-chain hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency and trifunctional protein (TFP) deficiency are caused by impairment of mitochondrial TFP. TFP has three enzymatic activities – long-chain enoyl-CoA hydratase, long-chain 3-hydroxyacyl-CoA dehydrogenase, and long-chain 3-ketoacyl-CoA thiolase. In individuals with LCHAD deficiency, there is isolated deficiency of long-chain 3-hydroxyacyl-CoA dehydrogenase, while deficiency of all three enzymes occurs in individuals with TFP deficiency. Individuals with TFP deficiency can present with a severe-to-mild phenotype, while individuals with LCHAD deficiency typically present with a severe-to-intermediate phenotype. Neonates with the severe phenotype present within a few days of birth with hypoglycemia, hepatomegaly, encephalopathy, and often cardiomyopathy. The intermediate phenotype is characterized by hypoketotic hypoglycemia precipitated by infection or fasting in infancy. The mild (late-onset) phenotype is characterized by myopathy and/or neuropathy. Long-term complications include peripheral neuropathy and retinopathy.|GeneReviews|N|
C3713420|Familial hyperaldosteronism is a group of inherited conditions in which the adrenal glands, which are small glands located on top of each kidney, produce too much of the hormone aldosterone. Aldosterone helps control the amount of salt retained by the kidneys. Excess aldosterone causes the kidneys to retain more salt than normal, which in turn increases the body's fluid levels and blood pressure. People with familial hyperaldosteronism may develop severe high blood pressure (hypertension), often early in life. Without treatment, hypertension increases the risk of strokes, heart attacks, and kidney failure.\n\nFamilial hyperaldosteronism is categorized into three types, distinguished by their clinical features and genetic causes. In familial hyperaldosteronism type I, hypertension generally appears in childhood to early adulthood and can range from mild to severe. This type can be treated with steroid medications called glucocorticoids, so it is also known as glucocorticoid-remediable aldosteronism (GRA). In familial hyperaldosteronism type II, hypertension usually appears in early to middle adulthood and does not improve with glucocorticoid treatment. In most individuals with familial hyperaldosteronism type III, the adrenal glands are enlarged up to six times their normal size. These affected individuals have severe hypertension that starts in childhood. The hypertension is difficult to treat and often results in damage to organs such as the heart and kidneys. Rarely, individuals with type III have milder symptoms with treatable hypertension and no adrenal gland enlargement.\n\nThere are other forms of hyperaldosteronism that are not familial. These conditions are caused by various problems in the adrenal glands or kidneys. In some cases, a cause for the increase in aldosterone levels cannot be found.|MedlinePlus Genetics|N|
C3714283|Inadequate intake of protein and/or energy over a prolonged period of time resulting in loss of fat and/or muscle stores due to chronic disease.|SNOMEDCT_US|N|
C3714284|Inadequate intake of protein and/or energy over a prolonged period of time resulting in loss of fat and/or muscle stores due to acute disease or injury.|SNOMEDCT_US|N|
C3714285|Inadequate intake of protein and/or energy over a prolonged period of time resulting in loss of fat and/or muscle stores due to starvation.|SNOMEDCT_US|N|
C3714286|Oral food/beverage intake that is inconsistent with reference standard intake for type, variety or quality.|SNOMEDCT_US|N|
C3714287|Higher intake of one or more minerals compared to established reference standards or recommendations based on physiological needs.|SNOMEDCT_US|N|
C3714288|Lower intake of one or more minerals compared to established reference standards or recommendations based on physiological needs.|SNOMEDCT_US|N|
C3714289|Higher intake of one or more vitamins compared to established reference standards or recommendations based on physiological needs.|SNOMEDCT_US|N|
C3714290|Lower intake of one or more vitamins compared to established reference standards or recommendations based on physiological needs.|SNOMEDCT_US|N|
C3714293|Higher intake of copper compared to established reference standards or recommendations based on physiological needs.|SNOMEDCT_US|N|
C3714294|Higher intake of phosphorus compared to established reference standards or recommendations based on physiological needs.|SNOMEDCT_US|N|
C3714343|Weight gain more than that which is desired or planned.|SNOMEDCT_US|N|
C3714366|Higher intake of cobalt compared to established reference standards or recommendations based on physiological needs.|SNOMEDCT_US|N|
C3714367|Higher intake of boron compared to established reference standards or recommendations based on physiological needs.|SNOMEDCT_US|N|
C3714368|Higher intake of molybdenum compared to established reference standards or recommendations based on physiological needs.|SNOMEDCT_US|N|
C3714369|Higher intake of chromium compared to established reference standards or recommendations based on physiological needs.|SNOMEDCT_US|N|
C3714370|Higher intake of manganese compared to established reference standards or recommendations based on physiological needs.|SNOMEDCT_US|N|
C3714371|Higher intake of selenium compared to established reference standards or recommendations based on physiological needs.|SNOMEDCT_US|N|
C3714372|Higher intake of iodine compared to established reference standards or recommendations based on physiological needs.|SNOMEDCT_US|N|
C3714373|Higher intake of fluoride compared to established reference standards or recommendations based on physiological needs.|SNOMEDCT_US|N|
C3714375|Higher intake of magnesium compared to established reference standards or recommendations based on physiological needs.|SNOMEDCT_US|N|
C3714377|Higher intake of sodium compared to established reference standards or recommendations based on physiological needs.|SNOMEDCT_US|N|
C3714378|Lower intake of cobalt compared to established reference standards or recommendations based on physiological needs.|SNOMEDCT_US|N|
C3714379|Lower intake of boron compared to established reference standards or recommendations based on physiological needs.|SNOMEDCT_US|N|
C3714380|Lower intake of molybdenum compared to established reference standards or recommendations based on physiological needs.|SNOMEDCT_US|N|
C3714381|Lower intake of chromium compared to established reference standards or recommendations based on physiological needs.|SNOMEDCT_US|N|
C3714382|Lower intake of manganese compared to established reference standards or recommendations based on physiological needs.|SNOMEDCT_US|N|
C3714383|Lower intake of selenium compared to established reference standards or recommendations based on physiological needs.|SNOMEDCT_US|N|
C3714384|Lower intake of iodine compared to established reference standards or recommendations based on physiological needs.|SNOMEDCT_US|N|
C3714385|Lower intake of copper compared to established reference standards or recommendations based on physiological needs.|SNOMEDCT_US|N|
C3714386|Lower intake of fluoride compared to established reference standards or recommendations based on physiological needs.|SNOMEDCT_US|N|
C3714388|Lower intake of sodium compared to established reference standards or recommendations based on physiological needs.|SNOMEDCT_US|N|
C3714389|Lower intake of phosphorus compared to established reference standards or recommendations based on physiological needs.|SNOMEDCT_US|N|
C3714390|Lower intake of magnesium compared to established reference standards or recommendations based on physiological needs.|SNOMEDCT_US|N|
C3714392|Higher intake of biotin compared to established reference standards or recommendations based on physiological needs.|SNOMEDCT_US|N|
C3714393|Higher intake of pantothenic acid compared to established reference standards or recommendations based on physiological needs.|SNOMEDCT_US|N|
C3714396|Lower intake of biotin than compared to established reference standards or recommendations based on physiological needs.|SNOMEDCT_US|N|
C3714397|Lower intake of pantothenic acid than compared to established reference standards or recommendations based on physiological needs.|SNOMEDCT_US|N|
C3714413|Higher intake of soy protein compared to established reference standards or recommendations based on physiological needs.|SNOMEDCT_US|N|
C3714414|Higher intake of psyllium compared to established reference standards or recommendations based on physiological needs.|SNOMEDCT_US|N|
C3714415|Higher intake of plant sterol ester compared to established reference standards or recommendations based on physiological needs.|SNOMEDCT_US|N|
C3714416|Higher intake of plant stanol ester compared to established reference standards or recommendations based on physiological needs.|SNOMEDCT_US|N|
C3714417|Higher intake of non-nutritive food additives compared to established reference standards or recommendations based on physiological needs.|SNOMEDCT_US|N|
C3714418|Higher intake of caffeine compared to established reference standards or recommendations based on physiological needs.|SNOMEDCT_US|N|
C3714419|Higher intake of beta glucan compared to established reference standards or recommendations based on physiological needs.|SNOMEDCT_US|N|
C3714420|Lower intake of soy protein compared to established reference standards or recommendations based on physiological needs.|SNOMEDCT_US|N|
C3714421|Lower intake of psyllium compared to established reference standards or recommendations based on physiological needs.|SNOMEDCT_US|N|
C3714422|Lower intake of plant sterol ester compared to established reference standards or recommendations based on physiological needs.|SNOMEDCT_US|N|
C3714423|Lower intake of plant stanol ester compared to established reference standards or recommendations based on physiological needs.|SNOMEDCT_US|N|
C3714424|Lower intake of beta glucan compared to established reference standards or recommendations based on physiological needs.|SNOMEDCT_US|N|
C3714425|Higher intake of bioactive substances compared to established reference standards or recommendations based on physiological needs.|SNOMEDCT_US|N|
C3714426|Lower intake of bioactive substances compared to established reference standards or recommendations based on physiological needs.|SNOMEDCT_US|N|
C3714427|Actual or observed intake of bioactive substances, including single or multiple functional food components, ingredients, dietary supplements, alcohol.|SNOMEDCT_US|N|
C3714428|Parenteral infusion that provides more calories/kcal/kJ or nutrients compared to established reference standards or recommendations based on physiological needs.|SNOMEDCT_US|N|
C3714429|Enteral infusion that provides more calories/kcal/kJ or nutrients compared to established reference standards or recommendations based on physiological needs.|SNOMEDCT_US|N|
C3714430|Parenteral infusion that provides fewer calories/kcal/kJ or nutrients compared to established reference standards or recommendations based on physiological needs.|SNOMEDCT_US|N|
C3714431|Enteral infusion that provides fewer calories/kcal/kJ or nutrients compared to established reference standards or recommendations based on physiological needs.|SNOMEDCT_US|N|
C3714432|Oral food and/or beverage intake that exceeds established reference standards or recommendations based on physiological needs.|SNOMEDCT_US|N|
C3714433|Future energy intake that is anticipated, based on observation, experience, or scientific reason, to exceed estimated energy expenditure, established reference standards, or recommendations based on physiological needs.|SNOMEDCT_US|N|
C3714434|Future energy intake that is anticipated, based on observation, experience, or scientific reason, to be less than estimated energy expenditure, established reference standards, or recommendations based on physiological needs.|SNOMEDCT_US|N|
C3714435|Oral food and/or beverage intake that is less than established reference standards or recommendations based on physiological needs.|SNOMEDCT_US|N|
C3714437|Rate of growth or growth velocity slower than expected, or weight gain that is suboptimal in comparison with goal or reference standard.|SNOMEDCT_US|N|
C3714438|Decreased need for a specific nutrient compared to established reference standards or recommendations based on physiological needs.|SNOMEDCT_US|N|
C3714497|Coughing, wheezing, or shortness of breath that is triggered by allergens, infection, or other irritants.|NCI|N|
C3714505|Localized loss of skin pigmentation, often in patches.|NCI|N|
C3714506|Meckel syndrome, also known as Meckel-Gruber syndrome, is a severe pleiotropic autosomal recessive developmental disorder caused by dysfunction of primary cilia during early embryogenesis. There is extensive clinical variability and controversy as to the minimum diagnostic criteria. Early reports, including that of Opitz and Howe (1969) and Wright et al. (1994), stated that the classic triad of Meckel syndrome comprises (1) cystic renal disease; (2) a central nervous system malformation, most commonly occipital encephalocele; and (3) polydactyly, most often postaxial. However, based on a study of 67 patients, Salonen (1984) concluded that the minimum diagnostic criteria are (1) cystic renal disease; (2) CNS malformation, and (3) hepatic abnormalities, including portal fibrosis or ductal proliferation. In a review of Meckel syndrome, Logan et al. (2011) stated that the classic triad first described by Meckel (1822) included occipital encephalocele, cystic kidneys, and fibrotic changes to the liver.
Genetic Heterogeneity of Meckel Syndrome
See also MKS2 (603194), caused by mutation in the TMEM216 gene (613277) on chromosome 11q12; MKS3 (607361), caused by mutation in the TMEM67 gene (609884) on chromosome 8q; MKS4 (611134), caused by mutation in the CEP290 gene (610142) on chromosome 12q; MKS5 (611561), caused by mutation in the RPGRIP1L gene (610937) on chromosome 16q12; MKS6 (612284), caused by mutation in the CC2D2A gene (612013) on chromosome 4p15; MKS7 (267010), caused by mutation in the NPHP3 (608002) gene on chromosome 3q22; MKS8 (613885), caused by mutation in the TCTN2 gene (613846) on chromosome 12q24; MKS9 (614209), caused by mutation in the B9D1 gene (614144) on chromosome 17p11; MKS10 (614175), caused by mutation in the B9D2 gene (611951) on chromosome 19q13; MKS11 (615397), caused by mutation in the TMEM231 gene (614949) on chromosome 16q23; MKS12 (616258), caused by mutation in the KIF14 gene (611279) on chromosome 1q32; MKS13 (617562), caused by mutation in the TMEM107 gene (616183) on chromosome 17p13; and MKS14 (619879), caused by mutation in the TXNDC15 gene (617778) on chromosome 5q31.|OMIM|N|
C3714509|Any condition related to a disturbance between proper intake and utilization of nourishment.|NCI|N|
C3714514|The invasion of an organism''s body tissues by disease-causing agents and their multiplication, as well as the reaction by the host to these organisms and/or toxins that the organisms produce.|NCI|N|
C3714517|Symptoms, physical examination results, and/or laboratory test results related to the connective and soft tissue.|NCI|N|
C3714524|A rare soft tissue sarcoma characterized by a malignant, fibroblastic lesion with variably myxoid stroma, pleomorphism, and a distinctively curvilinear vascular pattern. The majority of tumors arise in the limbs including the limb girdles, more often in dermal/subcutaneous tissues than in the underlying fascia and skeletal muscle, and usually present as a slowly growing, painless mass. Depth of the lesion and tumor grade do not influence the high rate of local recurrence, while the percentage of metastasis and tumor-associated mortality are much higher in deep-seated and high-grade neoplasms.|ORDO|N|
C3714534|A rare, genetic, hyperpigmentation of the skin disease characterized by adulthood-onset of reticular, reddish-brown to dark-brown, macular and/or comedone-like, hyperkeratotic papules with hypopigmented macules, predominantly affecting flexural areas and, on occasion, progressing to involve trunk and acral regions. Histologically, epidermal acanthosis, thin, branch-like, rete ridges, and a tendency for acantholysis and pigmentary incontinence is observed.|ORDO|N|
C3714535|Malocclusion in which the mandible is posterior to the maxilla as reflected by the relationship of the first permanent molar (distoclusion).|MSH|N|
C3714536|Past events that occurred between individuals and/or their communities.|NCI|N|
C3714542|An antiquated term that refers to a non-Hodgkin lymphoma composed of small and medium sized lymphocytes.|NCI|N|
C3714552|The property of lacking physical strength.|NCI|N|
C3714563|A type of acellular urinary casts that contain lipid droplets, oval fat bodies or cholesterol crystals, and are often associated with the free forms of these elements. Their identification may require the use of polarized light microscopy, under which fatty particles embedded into the cast matrix appear as Maltese crosses.|HPO|N|
C3714580|Hypokalemic periodic paralysis (hypoPP) is a condition in which affected individuals may experience paralytic episodes with concomitant hypokalemia (serum potassium <3.5 mmol/L). The paralytic attacks are characterized by decreased muscle tone (flaccidity) more marked proximally than distally with normal to decreased deep tendon reflexes. The episodes develop over minutes to hours and last several minutes to several days with spontaneous recovery. Some individuals have only one episode in a lifetime; more commonly, crises occur repeatedly: daily, weekly, monthly, or less often. The major triggering factors are cessation of effort following strenuous exercise and carbohydrate-rich evening meals. Additional triggers can include cold, stress/excitement/fear, salt intake, prolonged immobility, use of glucosteroids or alcohol, and anesthetic procedures. The age of onset of the first attack ranges from two to 30 years; the duration of paralytic episodes ranges from one to 72 hours with an average of nearly 24 hours. Long-lasting interictal muscle weakness may occur in some affected individuals and in some stages of the disease and in myopathic muscle changes. A myopathy may occur independent of paralytic symptoms and may be the sole manifestation of hypoPP.|GeneReviews|N|
C3714581|Multicystic dysplasia of the kidney is characterized by multiple cysts of varying size in the kidney and the absence of a normal pelvicaliceal system. The condition is associated with ureteral or ureteropelvic atresia, and the affected kidney is nonfunctional.|HPO|N|
C3714582|Inflammation of the lungs caused by the inhalation or aspiration of chemicals.|NCI|N|
C3714602|Staphylococcal toxic shock syndrome (staphylococcal TSS) is an acute disease mediated by the production of superantigenic toxins, characterized by high fever, skin rash followed by skin peeling, hypotension, vomiting, diarrhea and potentially leading to multisystem organ failure and caused by a <i>Staphylococcus aureus</i> bacterial infection.|ORDO|N|
C3714614|The condition of being stretched beyond normal dimensions.|NCI|N|
C3714618|Overproduction of thyroid hormone due to a disorder originating within the thyroid gland.|NCI|N|
C3714619|A cluster of closely related metabolic abnormalities associated with insulin resistance that confer an increased risk of the development of type 2 diabetes and cardiovascular disease. These abnormalities may include obesity, high blood pressure, abnormal cholesterol levels, proteinuria, and/or polycystic ovary syndrome.|NCI|N|
C3714625|Neuropathic pain is triggered by lesions to the somatosensory nervous system that alter its structure and function so that pain occurs spontaneously and responses to noxious and innocuous stimuli are pathologically amplified.|HPO|N|
C3714630|Infections with viruses of the genus respirovirus, family paramyxoviridae. Host cell infection occurs by adsorption, via hemagglutinin, to the cell surface.|MONDO|N|
C3714636|An inflammatory process affecting the lung parenchyma. It is a milder form of lung inflammation compared to pneumonia.|NCI|N|
C3714639|An electrocardiographic finding in which impaired conduction or automaticity within the sinus node results in the failure of impulse transmission from the sinoatrial node. This is manifested as dropped P waves during sinus rhythm. (CDISC)|NCI|N|
C3714644|A tumor (abnormal growth of tissue) of the thymus.|HPO|N|
C3714651|An encapsulated or nonencapsulated variant of papillary carcinoma of the thyroid gland characterized by the predominance of follicular structures. The malignant follicular cells display the nuclear features that characterize the papillary adenocarcinomas of the thyroid gland.|NCI|N|
C3714652|An electrocardiographic finding of an ectopic impulse originating in the ventricles. The QRS morphology of these complexes is different from those of supraventricular origin. The QRS duration is often longer and the RR interval preceding the complexes is usually shorter than that of supraventricular beats. (CDISC)|NCI|N|
C3714697|An electrocardiographic finding of intermittent failure of atrial electrical impulse conduction to the ventricles. This is manifest on the ECG by regular P waves which intermittently are not followed by QRS complexes. (CDISC)|NCI|N|
C3714712|The chemical reactions and pathways by which a cell derives energy from inorganic compounds; results in the oxidation of the compounds from which energy is released. [GOC:mah]|GO|N|
C3714739|A neoplasm characterized by the proliferation of neoplastic mesothelial cells. It usually arises from the pleura or peritoneum. This category includes malignant mesothelioma, adenomatoid tumor (benign mesothelioma), well differentiated papillary mesothelial tumor, and multicystic mesothelioma.|NCI|N|
C3714745|Impaired ability to absorb one or more nutrients from the intestine.|HPO|N|
C3714753|X-linked congenital retinoschisis (XLRS) is characterized by symmetric bilateral macular involvement with onset in the first decade of life, in some cases as early as age three months. Fundus examination shows areas of schisis (splitting of the nerve fiber layer of the retina) in the macula, sometimes giving the impression of a spoke wheel pattern. Schisis of the peripheral retina, predominantly inferotemporally, occurs in approximately 50% of individuals. Affected males typically have 20/60 to 20/120 vision. Visual acuity often deteriorates during the first and second decades of life but then remains relatively stable until the fifth or sixth decade.|GeneReviews|N|
C3714756|Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.|HPO|N|
C3714757|An older, deprecated term that encompassed three major types of autoimmune or autoinflammatory arthritis in children: systemic-onset, pauciarticular, or polyarticular arthritis. The juvenile rheumatoid arthritis classification system has been replaced by the International League of Associations for Rheumatology (ILAR) juvenile idiopathic arthritis classification system.|NCI|N|
C3714758|A rare pediatric inflammatory rheumatic disease characterized by the presence of arthritis accompanied by either psoriasis or at least two of the following supporting features; presence of nail pitting, onycholysis, dactylitis, or a family history of psoriasis in a first degree relative. Patients are younger than 16 years of age and the disease lasts longer than 6 weeks.|ORDO|N|
C3714772|Periodic (episodic or recurrent) bouts of fever.|HPO|N|
C3714796|Insufficient production of growth hormone.|NCI|N|
C3714873|Axenfeld-Rieger syndrome is an autosomal dominant disorder of morphogenesis that results in abnormal development of the anterior segment of the eye, and results in blindness from glaucoma in approximately 50% of affected individuals (Fitch and Kaback, 1978). Systemic anomalies are associated, including dental hypoplasia, failure of involution of periumbilical skin, and maxillary hypoplasia (Alkemade, 1969).
Genetic Heterogeneity of Axenfeld-Rieger Syndrome
Linkage studies indicate that a second type of Axenfeld-Rieger syndrome maps to chromosome 13q14 (RIEG2; 601499). A third form of Axenfeld-Rieger syndrome (RIEG3; 602482) is caused by mutation in the FOXC1 gene (601090) on chromosome 6p25.
See 109120 for a form of Axenfeld-Rieger syndrome associated with partially absent eye muscles, hydrocephalus, and skeletal abnormalities.|OMIM|N|
C3714896|Smith-McCort dysplasia is a rare autosomal recessive osteochondrodysplasia characterized by short trunk dwarfism with a barrel-shaped chest, rhizomelic limb shortening, and specific radiologic features including marked platyspondyly with double-humped end-plates, kyphoscoliosis, metaphyseal irregularities, laterally displaced capital femoral epiphyses, and small pelvis with a lace-like appearance of iliac crests. These clinical and radiologic features are also common to Dyggve-Melchior-Clausen syndrome (DMC; 223800), which is distinguished from SMC by the additional feature of mental retardation (summary by Dupuis et al., 2013).
For a discussion of genetic heterogeneity of Smith-McCort dysplasia, see SMC1 (607326).|OMIM|N|
C3714897|An extremely rare, complex type of hereditary spastic paraplegia, with onset in infancy of pronounced leg spasticity (leading to the inability to walk independently), reduced visual acuity due to optic atrophy and distal wasting of the hands and feet due to an axonal demyelinating sensorimotor neuropathy. Caused by mutations in the TFG gene (3q12.2) encoding protein TFG, which is thought to play a role in ER microtubular architecture and function.|SNOMEDCT_US|N|
C3714899|Proximal symphalangism-1A (SYM1A) is an autosomal dominant disorder characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and, in some cases, conductive deafness (Strasburger et al., 1965).
Genetic Heterogeneity of Proximal Symphalangism
Another form of proximal symphalangism (SYM1B; 615298) is caused by mutation in the GDF5 gene (601146).|OMIM|N|
C3714927|Multiple system atrophy (MSA) is a distinct clinicopathologic entity that manifests as a progressive adult-onset neurodegenerative disorder causing parkinsonism, cerebellar ataxia, and autonomic, urogenital, and pyramidal dysfunction in various combinations. Two main subtypes are recognized: 'subtype C,' characterized predominantly by cerebellar ataxia, and 'subtype P,' characterized predominantly by parkinsonism. MSA is characterized pathologically by the degeneration of striatonigral and olivopontocerebellar structures and glial cytoplasmic inclusions (GCIs) that consist of abnormally phosphorylated alpha-synuclein (SNCA; 163890) or tau (MAPT; 157140) (Gilman et al., 1998; Gilman et al., 2008; Scholz et al., 2009). 'Subtype C' of MSA has been reported to be more prevalent than 'subtype P' in the Japanese population (65-67% vs 33-35%), whereas 'subtype P' has been reported to be more prevalent than 'subtype C' in Europe (63% vs 34%) and North America (60% vs 13%, with 27% of cases unclassified) (summary by The Multiple-System Atrophy Research Collaboration, 2013).
MSA is similar clinically and pathologically to Parkinson disease (PD; 168600) and Lewy body dementia (127750). See also PARK1 (168601), which is specifically caused by mutation in the SNCA gene.
Pure autonomic failure manifests as orthostatic hypotension and other autonomic abnormalities without other neurologic involvement. Although there is some phenotypic overlap, the relationship of pure autonomic failure to MSA is unclear (Vanderhaeghen et al., 1970; Schatz, 1996).|OMIM|N|
C3714933|Myoadenylate deaminase deficiency (MMDD) is an autosomal recessive condition that can manifest as exercise-induced muscle pain, occasionally associated with rhabdomyolysis and/or increased serum creatine kinase, or even infantile hypotonia. However, the finding of homozygous mutations among asymptomatic individuals have suggested to some (e.g., Verzijl et al., 1998) that AMPD1 deficiency may be a harmless entity (summary by Castro-Gago et al., 2011).
Genetta et al. (2001) stated that AMPD1 deficiency is the most prevalent genetic disease in humans, the number of people heterozygous approaching 10% of Caucasians and individuals of African descent (Sabina et al., 1989). A small percentage of homozygous-deficient individuals, approximately 1.8% of the population, display symptoms of chronic fatigue and lost productivity as well as a predisposition to stress-related ailments, including heart disease and stroke, according to  Genetta et al. (2001).|OMIM|N|
C3714934|Myofibrillar myopathy refers to a genetically heterogeneous group of muscular disorders characterized by a pathologic morphologic pattern of myofibrillar degradation and abnormal accumulation of proteins involved with the sarcomeric Z disc (summary by Foroud et al., 2005).
For a general phenotypic description and a discussion of genetic heterogeneity of myofibrillar myopathy, see MFM1 (601419).|OMIM|N|
C3714935|A malignant epithelial neoplasm of the anterior pituitary gland in which the neoplastic cells stain positive with acidic dyes.|NCI|N|
C3714941|Otofaciocervical syndrome (OTFCS) is a rare disorder characterized by facial anomalies, cup-shaped low-set ears, preauricular fistulas, hearing loss, branchial defects, skeletal anomalies including vertebral defects, low-set clavicles, winged scapulae, sloping shoulders, and mild intellectual disability (summary by Pohl et al., 2013).
Genetic Heterogeneity of Otofaciocervical Syndrome
OTFCS2 (615560) is caused by mutation in the PAX1 gene (167411) on chromosome 20p11.|OMIM|N|
C3714948|Pachyonychia congenita (PC) is characterized by hypertrophic nail dystrophy, painful palmoplantar keratoderma and blistering, oral leukokeratosis, pilosebaceous cysts (including steatocystoma and vellus hair cysts), palmoplantar hyperhydrosis, and follicular keratoses on the trunk and extremities.|GeneReviews|N|
C3714949|Pachyonychia congenita (PC) is characterized by hypertrophic nail dystrophy, painful palmoplantar keratoderma and blistering, oral leukokeratosis, pilosebaceous cysts (including steatocystoma and vellus hair cysts), palmoplantar hyperhydrosis, and follicular keratoses on the trunk and extremities.|GeneReviews|N|
C3714976|Activated PI3K-delta syndrome (also known as APDS) is a disorder that impairs the immune system. Individuals with this condition often have low numbers of white blood cells (lymphopenia), particularly B cells and T cells. Normally, these cells recognize and attack foreign invaders, such as viruses and bacteria, to prevent infection. The severity of activated PI3K-delta syndrome varies widely. Some people may have multiple, severe infections while others show mild  symptoms to none at all.\n\nMost commonly, people with activated PI3K-delta syndrome develop recurrent infections that begin in childhood, particularly in the lungs, sinuses, and ears. Over time, recurrent respiratory tract infections can lead to a condition called bronchiectasis, which damages the passages leading from the windpipe to the lungs (bronchi) and can cause breathing problems. People with activated PI3K-delta syndrome may also have chronic active viral infections, such as Epstein-Barr virus, herpes simplex virus, or cytomegalovirus infections.\n\nThere are two types of activated PI3K-delta syndrome, each with different genetic causes.\n\nAnother possible feature of activated PI3K-delta syndrome is abnormal clumping of white blood cells. These clumps can lead to enlarged lymph nodes (lymphadenopathy) or an enlarged spleen (splenomegaly). The white blood cells can also build up to form solid masses (nodular lymphoid hyperplasia), usually in the moist lining of the airways or intestines. While nodular lymphoid hyperplasia is not cancerous (benign), activated PI3K-delta syndrome  increases the risk of developing forms of blood cancer called Hodgkin lymphoma and non-Hodgkin lymphoma.\n\nSome people with activated PI3K-delta syndrome develop autoimmunity, which occurs when the body attacks its own tissues and organs by mistake.|MedlinePlus Genetics|N|
C3714980|Bardet-Biedl syndrome-17 (BBS17) is an autosomal recessive ciliopathy characterized by retinitis pigmentosa, cognitive impairment, obesity, renal dysfunction, and hypogenitalism. Polydactyly, most often postaxial, is also a primary feature of BBS; in BBS17, mesoaxial polydactyly, with fused or Y-shaped metacarpals, is a distinct manifestation (Deffert et al., 2007; Schaefer et al., 2014).
For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (209900).|OMIM|N|
C3714992|Chronic mucocutaneous candidiasis is characterized by recurrent or persistent infections of the skin, nails, and oral and genital mucosae with Candida albicans, and sometimes by staphylococcal skin infections (summary by Boisson et al., 2013).
For a discussion of genetic heterogeneity of familial candidiasis, see CANDF1 (114580).|OMIM|N|
C3714995|Any dilated cardiomyopathy in which the cause of the disease is a mutation in the MYPN gene.|MONDO|N|
C3715049|Neuronal ceroid lipofuscinosis-13 (CLN13) is an autosomal recessive neurodegenerative disorder characterized by adult onset of progressive cognitive decline and motor dysfunction leading to dementia and often early death. Some patients develop seizures. Neurons show abnormal accumulation of autofluorescent material (summary by Smith et al., 2013).
Adult-onset neuronal ceroid lipofuscinosis is sometimes referred to as Kufs disease (see 204300). In a review of the classification of CLN disease, Gardner and Mole (2021) noted that the CLN13 phenotype corresponds to 'Kufs type B', which is characterized by dementia and a variety of motor signs (Smith et al., 2013).
For a discussion of genetic heterogeneity of neuronal ceroid lipofuscinosis (CLN), see CLN1 (256730).|OMIM|N|
C3715051|Craniosynostosis (CRS) is a primary abnormality of skull growth involving premature fusion of the cranial sutures such that the growth velocity of the skull often cannot match that of the developing brain. This produces skull deformity and, in some cases, raises intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability (summary by Fitzpatrick, 2013). Craniosynostosis-3 (CRS3) includes coronal, sagittal, and multisuture forms (Sharma et al., 2013).
For discussion of genetic heterogeneity of craniosynostosis, see CRS1 (123100).|OMIM|N|
C3715079|Developmental dysplasia of the hip (DDH) is a debilitating condition characterized by incomplete formation of the acetabulum leading to dislocation of the femur, suboptimal joint function, and accelerated wear of the articular cartilage, resulting in arthritis. Undetected hip dysplasia is the leading cause of osteoarthritis of the hip in young individuals, causing over 40% of cases in that age group (summary by Feldman et al., 2013).
For discussion of genetic heterogeneity of developmental dysplasia of the hip, see DDH1 (142700).|OMIM|N|
C3715082|Epidermolysis bullosa simplex (EBS) is characterized by fragility of the skin (and mucosal epithelia in some instances) that results in non-scarring blisters and erosions caused by minor mechanical trauma. EBS is distinguished from other types of epidermolysis bullosa (EB) or non-EB skin fragility syndromes by the location of the blistering in relation to the dermal-epidermal junction. In EBS, blistering occurs within basal keratinocytes. The severity of blistering ranges from limited to hands and feet to widespread involvement. Additional features can include hyperkeratosis of the palms and soles (keratoderma), nail dystrophy, milia, and hyper- and/or hypopigmentation. Rare EBS subtypes have been associated with additional clinical features including pyloric atresia, muscular dystrophy, cardiomyopathy, and/or nephropathy.|GeneReviews|N|
C3715128|Bartter syndrome with hypocalcemia is a type of Bartter syndrome characterized by hypocalcemia, hypomagnesemia and hypoparathyroidism along with features of Henle's loop dysfunction (polyuria, hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II). Bartter syndrome with hypocalcemia is a very rare manifestation of autosomal dominant hypocalcemia (ADH)|MONDO|N|
C3715155|Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the ERBB4 gene.|MONDO|N|
C3715156|Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the HNRNPA1 gene.|MONDO|N|
C3715164|In very rare cases, delayed development and intellectual disability have been reported in people with the features of Leber congenital amaurosis. Because of the visual loss, affected children may become isolated. Providing children with opportunities to play, hear, touch, understand and other early educational interventions may prevent developmental delays in children with Leber congenital amaurosis.\n\nAt least 20 genetic types of Leber congenital amaurosis have been described. The types are distinguished by their genetic cause, patterns of vision loss, and related eye abnormalities.\n\nA specific behavior called Franceschetti's oculo-digital sign is characteristic of Leber congenital amaurosis. This sign consists of affected individuals poking, pressing, and rubbing their eyes with a knuckle or finger. Poking their eyes often results in the sensation of flashes of light called phosphenes. Researchers suspect that this behavior may contribute to deep-set eyes in affected children.\n\nLeber congenital amaurosis is also associated with other vision problems, including an increased sensitivity to light (photophobia), involuntary movements of the eyes (nystagmus), and extreme farsightedness (hyperopia). The pupils, which usually expand and contract in response to the amount of light entering the eye, do not react normally to light. Instead, they expand and contract more slowly than normal, or they may not respond to light at all.\n\nLeber congenital amaurosis, also known as LCA, is an eye disorder that is present from birth (congenital). This condition primarily affects the retina, which is the specialized tissue at the back of the eye that detects light and color. People with this disorder typically have severe visual impairment beginning at birth or shortly afterward. The visual impairment tends to be severe and may worsen over time.|MedlinePlus Genetics|N|
C3715165|Left ventricular noncompaction is a heart (cardiac) muscle disorder that occurs when the lower left chamber of the heart (left ventricle), which helps the heart pump blood, does not develop correctly. Instead of the muscle being smooth and firm, the cardiac muscle in the left ventricle is thick and appears spongy. The abnormal cardiac muscle is weak and has an impaired ability to pump blood because it either cannot completely contract or it cannot completely relax. For the heart to pump blood normally, cardiac muscle must contract and relax fully.\n\nSome individuals with left ventricular noncompaction experience no symptoms at all; others have heart problems that can include sudden cardiac death. Additional signs and symptoms include abnormal blood clots, irregular heart rhythm (arrhythmia), a sensation of fluttering or pounding in the chest (palpitations), extreme fatigue during exercise (exercise intolerance), shortness of breath (dyspnea), fainting (syncope), swelling of the legs (lymphedema), and trouble laying down flat. Some affected individuals have features of other heart defects. Left ventricular noncompaction can be diagnosed at any age, from birth to late adulthood. Approximately two-thirds of individuals with left ventricular noncompaction develop heart failure.|MedlinePlus Genetics|N|
C3715192|Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL) is an autosomal dominant systemic disorder characterized by prominent loss of subcutaneous fat, a characteristic facial appearance, and metabolic abnormalities including insulin resistance and diabetes mellitus. Sensorineural deafness occurs late in the first or second decades of life (summary by Weedon et al., 2013).|OMIM|N|
C3715197|Primary congenital hypothyroidism is a type of permanent congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth.|ORDO|N|
C3715199|Any renal-hepatic-pancreatic dysplasia in which the cause of the disease is a mutation in the NPHP3 gene.|MONDO|N|
C3715208|An electrocardiographic finding of prolonged PR interval for a specific population. For adults one common threshold is a PR interval greater than 0.20 seconds. Note that other thresholds may be applicable. (CDISC)|NCI|N|
C3715216|Any retinitis pigmentosa in which the cause of the disease is a mutation in the RBP3 gene.|MONDO|N|
C3804970|A group of aortic diseases presented with acute chest pain. It commonly includes AORTIC DISSECTION; AORTIC INTRAMURAL HEMATOMA; PENETRATING ATHEROSCLEROTIC ULCER and sometimes aortic aneurysms.|MSH|N|
C3804991|A non-malignant neoplasm of the genitourinary system.|HPO|N|
C3805014|Anomaly in the weight-to-height squared ratio, calculated by dividing the individual's weight in kilograms by the square of the individual's height in meters and used as an indicator of obesity and underweight compared to averages.|HPO|N|
C3805050|A reduction in the length of time required for food to pass through the intestines.|HPO|N|
C3805052|Formation of a blood clot (thrombus) in the lumen of the splenic vein or splenic artery.|NCI|N|
C3805063|A fetal heart rate pattern characterized by a smooth, sine wave-like undulating pattern with a cycle frequency of 3 to 5 beats per minute that continues for at least 20 minutes or more.|NCI|N|
C3805083|Fibroblast proliferation and fiber expansion from the portal areas to the lobule.|HPO|N|
C3805089|Increased degradation of fibrin, associated with clot instability and bleeding|HPO|N|
C3805092|A change in the nucleotide sequence of the MTHFR gene.|NCI|N|
C3805116|A rare disorder characterized by recurrent infantile infections and absence of neutrophils in the peripheral blood.|MONDO|N|
C3805220|A baseline fetal heart rate with an amplitude range that is greater than 25 beats per minute.|NCI|N|
C3805221|A baseline fetal heart rate with a detectable amplitude range that is greater than undetectable but less than or equal to five beats per minute.|NCI|N|
C3805222|Blockage of the lumen of the pulmonary vein.|NCI|N|
C3805223|Variable decelerations that occur with greater than or equal to 50 percent of uterine contractions. They are usually associated with umbilical cord compression.|NCI|N|
C3805232|Progression of polycythemia vera characterized by decreased erythropoiesis and granulopoiesis, reticulin and collagen fibrosis of the bone marrow, leucoerythroblastic reaction in the peripheral blood, poikilocytosis, tear-drop shaped red blood cells, and splenomegaly.|NCI|N|
C3805233|Myelofibrosis that develops in a patient with history of essential thrombocythemia.|NCI|N|
C3805325|Elongated curved (S-shaped) fibulae.|HPO|N|
C3805337|Formation of abnormal, extraskeletal bony tissue in the soft tissue beneath the skin. Subcutaneous ossifications may be observed by radiography or by palpation.|HPO|N|
C3805345|A reduction in the strength and/or mass of one or more muscles.|NCI|N|
C3805373|The i and I antigens of the I blood group system (110800) are carbohydrate structures carried on glycolipids and glycoproteins and are characterized as straight or branched glycochains composed of repeating N-acetyllactosamine (LacNAc) units, respectively. Conversion of i antigen into an I-active structure requires the activity of the I-branching enzyme, beta-1,6-N-acetylglucosaminyltransferase (GCNT2; 600429), which adds the decisive GlcNAc-beta-1-6 branch onto the straight poly-LacNAc chains. Expression of the i and I antigens on red blood cells (RBCs) is reciprocal and developmentally regulated. Adult human RBCs predominantly express I antigen, whereas fetal and neonatal RBCs predominantly express i antigen. After birth, I antigen levels increase gradually as i antigen levels fall, with the normal Ii status of adult RBCs reached after about 13 to 20 months. Mutations that specifically affect 1 of the 3 variants produced by the GCNT2 gene cause the rare adult i phenotype (see 110800), in which adult RBCs are rich in i antigen and contain low levels of I antigen. Mutations that eliminate all 3 GCNT2 variants cause the adult i phenotype with congenital cataract (review by Yu and Lin, 2011).|OMIM|N|
C3805375|Oculocutaneous albinism (OCA) is a heterogeneous autosomal recessive disorder, with a worldwide prevalence of approximately 1:17,000. It manifests as a reduction or complete loss of melanin in the skin, hair, and eyes, often accompanied by eye symptoms such as photophobia, strabismus, moderate to severe visual impairment, and nystagmus (summary by Wei et al., 2013).
For a discussion of genetic heterogeneity of oculocutaneous albinism, see OCA1 (203100).
For a general phenotypic description and a discussion of genetic heterogeneity of variation in skin, hair, and eye pigmentation, see SHEP1 (227220).|OMIM|N|
C3805409|Coralliform cataracts are characterized by multiple coral-like white opacities that radiate out bilaterally in an axial direction from the center of the lens in a fusiform or spindle-shaped fashion but never actually reach the capsule (summary by Gao et al., 2005).|OMIM|N|
C3805411|Mutations in the VIM gene have been found to cause multiple types of congenital cataract, which have been described as congenital, pulverulent, and posterior polar.|OMIM|N|
C3805412|Cataract is an opacification of the lens or lens capsule in the eye and is the most common cause of childhood blindness in the world, with an incidence of 1 to 3 per 10,000 live births. If untreated in infancy or childhood, it frequently causes visual impairment and can result in irreversible amblyopia. Nuclear cataract refers to opacification within the embryonal and/or fetal nuclei of the lens (summary by Berry et al., 2013).|OMIM|N|
C3805420|A pterygium (or pterygia) occurring in the popliteal region (the back of the knee).|HPO|N|
C3805432|A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by uveal coloboma (typically bilateral) variably associated with cleft lip, palate and/or uvula, hearing impairment, and intellectual disability. The spectrum of eye involvement is also variable and includes iris coloboma extending to the choroid, disc, and/or macula, microphthalmia, cataract, and extraocular movement impairment.|ORDO|N|
C3805450|Underdevelopment of the muscuklature of the calf.|HPO|N|
C3805604|Foveal hypoplasia is defined as the lack of foveal depression with continuity of all neurosensory retinal layers in the presumed foveal area. Foveal hypoplasia as an isolated entity is a rare phenomenon; it is usually described in association with other ocular disorders, such as aniridia (106210), microphthalmia (see 251600), albinism (see 203100), or achromatopsia (see 216900). All reported cases of foveal hypoplasia have been accompanied by decreased visual acuity and nystagmus (summary by Perez et al., 2014).
Genetic Heterogeneity of Foveal Hypoplasia
Foveal hypoplasia-2 (FVH2; 609218) is caused by mutation in the SLC38A8 gene (615585) on chromosome 16q23.|OMIM|N|
C3805639|Hypertrophy (increase in size) of muscle tissue in a generalized (not localized) distribution.|HPO|N|
C3805721|A disc-shaped patch(es) of skin inflammation that is red, raised, and scaly; it typically develops on the face, scalp, and neck, and often leaves scars and dyspigmentation as a result of postinflammatory hyperpigmentation.|NCI|N|
C3805727|Primary megalencephaly is defined as a head circumference about the 98th percentile that most likely is due to brain enlargement and is not secondary to disease (review by Petersson et al., 1999).|OMIM|N|
C3805764|Absence of the biceps muscle.|HPO|N|
C3805765|Absence of the quadriceps muscle.|HPO|N|
C3805845|Lichen amyloidosis presents with multiple localized or rarely generalized, hyperpigmented grouped papules with a predilection for the shins, calves, ankles, and dorsa of the feet and thighs.|HPO|N|
C3805860|Underdevelopment of the latissimus dorsi muscle, which is involved in adduction, extension, internal rotation, and transverse extension of the shoulder and assists in movement of the scapula.|HPO|N|
C3805879|Early activation of the hypothalamic-pituitary-gonadal axis results in gonadotropin-dependent precocious puberty, also known as central precocious puberty, which is clinically defined by the development of secondary sexual characteristics before the age of 8 years in girls and 9 years in boys. Pubertal timing is influenced by complex interactions among genetic, nutritional, environmental, and socioeconomic factors. The timing of puberty is associated with risks of subsequent disease: earlier age of menarche in girls is associated with increased risk of breast cancer, endometrial cancer, obesity, type 2 diabetes, and cardiovascular disease. Central precocious puberty has also been associated with an increased incidence of conduct and behavior disorders during adolescence (summary by Abreu et al., 2013).
Genetic Heterogeneity of Central Precocious Puberty
Central precocious puberty-2 (CPPB2; 615346) is caused by mutation in the MKRN3 gene (603856) on chromosome 15q11.|OMIM|N|
C3805899|Accumulation of abnormal amounts of pigment within the trabecular meshwork.|HPO|N|
C3805901|A difference in the amount of intraocular pressure in the right and left eye.|HPO|N|
C3805911|An elevation in the ratio of the diameter of the cup of the optic disc to the total diameter of the disk. The optic disc has an orange-pink rim with a pale center (the cup) that does not contain neuroretinal tissue. An increase in this ratio therefore may indicate a decrease in the quantity of healthy neuroretinal cells.|HPO|N|
C3805917|An abnormally elevated blood pressure in the circulation of the pulmonary artery.|HPO|N|
C3805919|A recurrent hemorrhage occurring within the lung.|HPO|N|
C3805969|Atrophy of the muscles that are responsible for moving the scapula, which are the levator scapulae, the infraspinatus muscle, the teres major, the teres minor, and the supraspinatus muscle.|HPO|N|
C3805994|Abnormal shortening of the larynx in the anteroposterior (front to back) axis.|HPO|N|
C3806153|Hypochromic microcytic anemia with iron overload is a condition that impairs the normal transport of iron in cells. Iron is an essential component of hemoglobin, which is the substance that red blood cells use to carry oxygen to cells and tissues throughout the body. In this condition, red blood cells cannot access iron in the blood, so there is a decrease of red blood cell production (anemia) that is apparent at birth. The red blood cells that are produced are abnormally small (microcytic) and pale (hypochromic). Hypochromic microcytic anemia with iron overload can lead to pale skin (pallor), tiredness (fatigue), and slow growth.\n\nIn hypochromic microcytic anemia with iron overload, the iron that is not used by red blood cells accumulates in the liver, which can impair its function over time. The liver problems typically become apparent in adolescence or early adulthood.|MedlinePlus Genetics|N|
C3806174|BBS18 is an autosomal recessive ciliopathy described in a single patient and characterized by retinitis pigmentosa, obesity, kidney failure, and cognitive disability (Scheidecker et al., 2014).
For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (209900).|OMIM|N|
C3806218|Episodes of very rapid breathing.|HPO|N|
C3806221|The presence of large spherical melanosomes (1 to 6 micrometer in diameter) in the cytoplasm of melanocytes.|HPO|N|
C3806226|Deposition of calcium salts in a tissue or location in which calcification does not normally occur.|HPO|N|
C3806255|A rare genetic disease characterized by cystic fibrosis, gastritis associated with <i>Helicobacter pylori</i>, folate deficiency megaloblastic anemia, and intellectual disability. There have been no further descriptions in the literature since 1991.|ORDO|N|
C3806275|Deafness and myopia (DFNMYP) syndrome is characterized by bilateral, congenital or prelingual deafness (sensorineural hearing loss or auditory neuropathy spectrum disorder) and high myopia (>-6 diopters). In individuals with a molecularly confirmed diagnosis reported to date, hearing loss was progressive and severity ranged from moderate to profound. Vestibular testing was normal. Myopia was diagnosed at infancy or early childhood.|GeneReviews|N|
C3806285|Increased susceptibility to infections due to aspiration, as manifested by recurrent episodes of infections due to aspiration.|HPO|N|
C3806286|Reduced tendency to respond to a reduced concentration of oxygen in the blood by increasing respiration.|HPO|N|
C3806306|Subcutaneous nodules that are located in the vicinity of joints.|HPO|N|
C3806347|An increased concentration of homocystine in the blood.|HPO|N|
C3806379|Vascular connective tissue formed on the surface of an ulcer or healing wound.|NCI|N|
C3806403|Diffuse, bilateral and recently also unilateral or focal localization spike-wave occurring in slow sleep or non-rapid eye movement sleep.|HPO|N|
C3806412|Macrocephaly refers to an abnormally enlarged head inclusive of the scalp, cranial bones, and intracranial contents. Macrocephaly may be due to megalencephaly (true enlargement of the brain parenchyma), and the 2 terms are often used interchangeably in the genetic literature (reviews by Olney, 2007 and Williams et al., 2008). Autosomal recessive macrocephaly/megalencephaly syndrome is characterized by an enlarged cranium apparent at birth or in early childhood. Affected individuals have intellectual disability and may have dysmorphic facial features resulting from the macrocephaly (summary by Alfaiz et al., 2014).|OMIM|N|
C3806447|Increased concentration of taurine in the urine.|HPO|N|
C3806462|Recurrent episodes of apnea that are precipitated by factors such as illness, fatigue, or stress.|HPO|N|
C3806482|An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections.|HPO|N|
C3806510|A horizontal (flat) conformation of the ribs, the long curved bones that form the rib cage and normally progressively oblique (slanted) from ribs 1 through 9, then less slanted through rib 12.|HPO|N|
C3806511|A morphological abnormality of the scapula in which there is a flat (horizontal) inferior edge of the scapula. The entire scapula is said to resemble a square, leading to the designation sqaring of the scapula (in Figure 1 of PMID:24706940 the scapulae have a roughly rectangular shape).|HPO|N|
C3806583|Dysfunction of the urinary bladder.|HPO|N|
C3806604|Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk and with onset in infancy.|HPO|N|
C3806634|Deafness, dystonia, and cerebral hypomyelination is an X-linked recessive mental retardation syndrome characterized by almost no psychomotor development, dysmorphic facial features, sensorineural deafness, dystonia, pyramidal signs, and hypomyelination on brain imaging (summary by Cacciagli et al., 2013).|OMIM|N|
C3806670|Paroxysmal nocturnal hemoglobinuria (PNH) is an uncommon acquired hemolytic anemia that often manifests with hemoglobinuria, abdominal pain, smooth muscle dystonias, fatigue, and thrombosis. The disease results from the expansion of hematopoietic stem cells harboring a mutation in the PIGA gene, which encodes a protein required for the biosynthesis of glycosylphosphatidylinositol (GPI), a lipid moiety that attaches dozens of proteins to the cell surface. Thus, PNH cells are deficient in cell surface GPI-anchored proteins. This deficiency on erythrocytes leads to intravascular hemolysis, since certain GPI-anchored proteins (i.e., CD55 (125240) and CD59 (107271)) normally function as complement regulators. Free hemoglobin released from intravascular hemolysis leads to circulating nitrous oxide depletion and is responsible for many of the clinical manifestations of PNH, including fatigue, erectile dysfunction, esophageal spasm, and thrombosis (review by Brodsky, 2008).
Genetic Heterogeneity of Paroxysmal Nocturnal Hemoglobinuria
See also PNH2 (615399), which may be caused by germline and somatic mutation in the PIGT gene (610272) on chromosome 20q13.|OMIM|N|
C3806688|Congenital disorder of glycosylation type IIm, or developmental and epileptic encephalopathy-22 (DEE22), is an X-linked dominant severe neurologic disorder characterized by infantile-onset seizures, hypsarrhythmia on EEG, hypotonia, and developmental delay associated with severe intellectual disability and lack of speech. These features are consistent with developmental and epileptic encephalopathy (DEE). Brain malformations usually include cerebral and cerebellar atrophy. Additionally, some patients may have dysmorphic features or coarse facies (Ng et al., 2013; Kodera et al., 2013).
For a general discussion of CDGs, see CDG1A (212065) and CDG2A (212066). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350.|OMIM|N|
C3806702|A rare genetic principally axonal peripheral sensorimotor neuropathy with an X-linked dominant inheritance pattern and the childhood-onset of slowly progressive, moderate to severe, distal muscle weakness and atrophy of the lower extremities, as well as distal, pan modal sensory abnormalities, bilateral foot deformities (pes cavus, clawed toes), absent ankle reflexes and gait abnormalities (steppage gait). Females are usually asymptomatic or only present mild manifestations (mild postural hand tremor, mild wasting of hand intrinsic muscles).|SNOMEDCT_US|N|
C3806711|Approximately 40 million people take ACE inhibitors (ACEi) to treat hypertension and cardiovascular disease. A small proportion of white patients who take ACEi (0.1-0.7%) develop angioedema (AEACEI) (Israili and Hall, 1992; Vleeming et al., 1998), a potentially life-threatening side effect characterized by swelling of the face, lips, tongue, and airway that can lead to suffocation and death if severe. ACEi-associated angioedema is 4 to 5 times more prevalent among African Americans (Brown et al., 1996; Coats, 2002). Other risk factors include female sex, smoking, immunosuppressant therapy, and seasonal allergies. The pathophysiology of ACEi-associated angioedema is thought to be related to increased circulating bradykinin, which is normally degraded by ACE. During pharmacologic ACE inhibition, bradykinin is primarily degraded by aminopeptidase P (summary by Duan et al., 2005 and Woodard-Grice et al., 2010). Aminopeptidase P is encoded by 3 genes: XPNPEP1 (602443) on chromosome 10q25, XPNPEP2 (300145) on chromosome Xq25, and XPNPEP3 (613553) on chromosome 22q13.|OMIM|N|
C3806722|A rare genetic neurological disorder with characteristics of parkinsonian features (including resting or action tremor, cogwheel rigidity, hypomimia and bradykinesia) associated with variably penetrant spasticity, hyperactive deep tendon reflexes and Babinski sign. There is evidence this disease is caused by hemizygous mutation in the ATP6AP2 gene on chromosome Xp11.|SNOMEDCT_US|N|
C3806730|X-linked intellectual developmental disorder-98 (XLID98) is a neurodevelopmental disorder characterized by delayed psychomotor development, poor speech, behavioral abnormalities, poor overall growth, dysmorphic facial features, and often early-onset seizures. Some carrier females are unaffected, whereas other females with mutations are affected; males tend to be more severely affected than females. It is believed that the phenotypic variability and disease manifestations in female carriers results from skewed X-inactivation or cellular mosaicism (summary by de Lange et al., 2016).|OMIM|N|
C3806737|Any X-linked nonsyndromic deafness in which the cause of the disease is a mutation in the COL4A6 gene.|MONDO|N|
C3806742|X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome is a rare syndromic microphthalmia disorder characterized by microphthalmia with coloboma (which may involve the iris, cilary body, choroid, retina and/or optic nerve), microcephaly, short stature and intellectual disability. Other eye abnormalities such as pendular nystagmus, esotropia and ptosis may also be present. Additional associated abnormalities include kyphoscoliosis, anteverted pinnae with minimal convolutions, diastema of the incisors and congenital pes varus.|ORDO|N|
C3806745|X-linked Olmsted syndrome (OLMSX) is a rare keratinization disorder characterized by the combination of periorificial keratotic plaques and bilateral palmoplantar transgredient keratoderma. Other clinical manifestations include diffuse alopecia, leukokeratosis of the oral mucosa, onychodystrophy, hyperkeratotic linear streaks, follicular keratosis, and constriction of the digits (summary by Yaghoobi et al., 2007).
For a general phenotypic description and a discussion of genetic heterogeneity of Olmsted disease, see OLMS1 (614594).|OMIM|N|
C3806746|Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the USP9X gene.|MONDO|N|
C3806961|An abnormal enlargement (i.e. increase in measured voltage) of somatosensory evoked potentials.|HPO|N|
C3807131|Reduced differentiation between renal cortex and medulla on diagnostic imaging.|HPO|N|
C3807235|The congenital dyserythropoietic anemias (CDAs) are an uncommon and heterogeneous group of conditions characterized by increased ineffective erythropoiesis and, usually, dysplastic changes in erythroblasts. Originally, 3 types of CDA were recognized and designated CDA type I (224120), type II (224100), and type III (105600). Subsequently, a number of other types were described, as reviewed by Wickramasinghe (1997). The defining features of CDA type I are autosomal recessive inheritance, macrocytes in the peripheral blood, internuclear chromatin bridges connecting some almost completely separated erythroblasts, and an abnormal ultrastructural appearance (spongy or 'swiss-cheese' appearance) of the heterochromatin in a high proportion of the erythroblasts.|OMIM|N|
C3807295|ADCADN is an autosomal dominant neurologic disorder characterized by adult onset of progressive cerebellar ataxia, narcolepsy/cataplexy, sensorineural deafness, and dementia. More variable features include optic atrophy, sensory neuropathy, psychosis, and depression (summary by Winkelmann et al., 2012).|OMIM|N|
C3807306|An acute form of rhabdomyolysis.|HPO|N|
C3807327|Advanced sleep phase syndrome is characterized by very early sleep onset and offset (summary by Jones et al., 1999).
Genetic Heterogeneity of Advanced Sleep Phase Syndrome
See also FASPS2 (615224), caused by mutation in the CSNK1D gene (600864) on chromosome 17q25, and FASPS3 (616882), caused by mutation in the PER3 gene (603427) on chromosome 1p36.|OMIM|N|
C3807521|Amyotrophic lateral sclerosis-21 (ALS21) is an autosomal dominant neurodegenerative disorder affecting upper and lower motor neurons, resulting in muscle weakness and respiratory failure. Some patients may develop myopathic features or dementia (summary by Johnson et al., 2014).
For a discussion of genetic heterogeneity of amyotrophic lateral sclerosis, see ALS1 (105400).|OMIM|N|
C3807541|Lennox-Gastaut syndrome is a severe condition characterized by repeated seizures (epilepsy) that begin early in life. Affected individuals have multiple types of seizures, developmental delays, and particular patterns of brain activity measured by a test called an electroencephalogram (EEG). An EEG shows a slow spike-and-wave pattern during wakefulness and generalized paroxysmal fast activity during sleep.\n\nIn people with Lennox-Gastaut syndrome, epilepsy begins in early childhood, usually between ages 3 and 5. The most common seizure type is tonic seizures, which cause the muscles to stiffen (contract) uncontrollably. These seizures typically occur during sleep; they may also occur during wakefulness. Also common are atonic seizures, which are caused by a sudden loss of muscle tone. Tonic and atonic seizures can cause sudden falls that can result in serious or life-threatening injuries. Additionally, many affected individuals have atypical absence seizures, which cause a very brief partial or complete loss of consciousness. Other types of seizures have been reported less frequently in people with Lennox-Gastaut syndrome. Seizures associated with Lennox-Gastaut syndrome often do not respond well to therapy with anti-epileptic medications.\n\nAlthough each seizure episode associated with Lennox-Gastaut syndrome is usually brief, more than two-thirds of affected individuals experience prolonged periods of seizure activity (known as status epilepticus) or episodes of many seizures that occur in a cluster.\n\nAbout one-third of people with Lennox-Gastaut syndrome have normal intellectual development before seizures begin. The remainder  have intellectual disability or learning problems even before seizures arise. Intellectual problems may worsen over time, particularly if seizures are very frequent or severe. Some affected children develop additional neurological abnormalities and behavioral problems. Many are also slow to develop motor skills such as sitting and crawling. As a result of their seizures and intellectual disability, most people with Lennox-Gastaut syndrome require help with daily activities. However, a small percentage of affected adults can live independently.\n\nPeople with Lennox-Gastaut syndrome have a higher risk of death than their peers of the same age. Although the increased risk is not fully understood, it is partly due to poorly controlled seizures, pneumonia resulting from inhaling saliva (aspiration pneumonia) during a seizure, and injuries from falls. In addition, individuals with Lennox-Gastaut syndrome are at risk of sudden unexpected death in epilepsy (SUDEP), which describes sudden death with no known cause in someone with epilepsy; it is not the direct result of a seizure.|MedlinePlus Genetics|N|
C3807567|Lipodystrophies are rare disorders characterized by loss of body fat from various regions and predisposition to metabolic complications of insulin resistance and lipid abnormalities. FPLD7 is an autosomal dominant disorder with a highly variable phenotype. Additional features, including early-onset cataracts and later onset of spasticity of the lower limbs, have been noted in some patients (summary by Garg et al., 2015).
For a general phenotypic description and a discussion of genetic heterogeneity of familial partial lipodystrophy (FPLD), see 151660.|OMIM|N|
C3807726|Repeated occurrence of episodes of coughing, with each episode consisting of at least five minutes of continuous coughing.|HPO|N|
C3807873|Foveal hypoplasia is defined as the lack of foveal depression with continuity of all neurosensory retinal layers in the presumed foveal area. Foveal hypoplasia as an isolated entity is a rare phenomenon; it is usually described in association with other ocular disorders, such as aniridia (106210), microphthalmia (see 251600), albinism (see 203100), or achromatopsia (see 216900). All reported cases of foveal hypoplasia have been accompanied by decreased visual acuity and nystagmus (summary by Perez et al., 2014).
For a discussion of genetic heterogeneity of foveal hypoplasia, see FVH1 (136520).|OMIM|N|
C3807980|Recurrent episodes of apnea occurring during infancy.|HPO|N|
C3808012|Mutation in the CRYBA4 gene has been found in families with cataract described as congenital, lamellar, and nuclear.|OMIM|N|
C3808022|An intermittent form of abdominal pain.|HPO|N|
C3808039|Nemaline rods are abnormal bodies that can occur in skeletal muscle fibers. The rods can be observed on histological analysis of muscle biopsy tissue or upon electron microscopy, where they appear either as extensions of sarcomeric Z-lines, in random array without obvious attachment to Z-lines (often in areas devoid of sarcomeres) or in large clusters localized at the sarcolemma or intermyofibrillar spaces.|HPO|N|
C3808107|Mutations in the BFSP1 gene have been found to cause multiple types of cataract, which have been described as cortical, nuclear, and progressive punctate lamellar. Both autosomal dominant and autosomal recessive modes of inheritance have been reported.|OMIM|N|
C3808115|Mutations in the BFSP2 gene have been found to cause multiple types of cataract, which have been described as juvenile-onset lamellar, cortical, nuclear embryonic; and congenital nuclear, sutural, stellate, Y-sutural, and punctate cortical.|OMIM|N|
C3808270|The presence of osteophytes (bone spurs), i.e., of bony projections originating from the acetabulum.|HPO|N|
C3808300|17p13.3 microduplication syndrome is characterized by variable psychomotor delay and dysmorphic features.|ORDO|N|
C3808303|Elevated amount of bile acids in the feces.|HPO|N|
C3808377|Mutations in the CRYAB gene have been found to cause multiple types of cataract, which have been described as congenital posterior polar, congenital lamellar, and juvenile. Autosomal dominant and autosomal recessive forms have been described.
The preferred title/symbol of this entry was formerly 'Cataract, Posterior Polar, 2; CTPP2.'|OMIM|N|
C3808397|Complex cortical dysplasia with other brain malformations (CDCBM) is a disorder of aberrant neuronal migration and disturbed axonal guidance. Affected individuals have mild to severe mental retardation, strabismus, axial hypotonia, and spasticity. Brain imaging shows variable malformations of cortical development, including polymicrogyria, gyral disorganization, and fusion of the basal ganglia, as well as thin corpus callosum, hypoplastic brainstem, and dysplastic cerebellar vermis. Extraocular muscles are not involved (summary by Poirier et al., 2010).
Genetic Heterogeneity of Complex Cortical Dysplasia with Other Brain Malformations
See also CDCBM2 (615282), caused by mutation in the KIF5C gene (604593) on chromosome 2q23; CDCBM3 (615411), caused by mutation in the KIF2A gene (602591) on chromosome 5q12; CDCBM4 (615412), caused by mutation in the TUBG1 gene (191135) on chromosome 17q21; CDCBM5 (615763), caused by mutation in the TUBB2A gene (615101) on chromosome 6p25; CDCBM6 (615771), caused by mutation in the TUBB gene (191130) on chromosome 6p21; CDCBM7 (610031), caused by mutation in the TUBB2B gene (612850) on chromosome 6p25; CDCBM9 (618174), caused by mutation in the CTNNA2 gene (114025) on chromosome 2p12; CDCBM10 (618677), caused by mutation in the APC2 gene (612034) on chromosome 19p13; CDCBM11 (620156), caused by mutation in the KIF26A gene (613231) on chromosome 14q32; CDCBM12 (620316), caused by mutation in the CAMSAP1 gene (613774) on chromosome 9q34; CDCBM13 (614563), caused by mutation in the DYNC1H1 gene (600112) on chromosome 14q32; CDCBM14A (606854) and CDCBM14B (615752), caused by mutation in the ADGRG1 gene (604110) on chromosome 16q21; and CDCBM15 (618737), caused by mutation in the TUBGCP2 gene (617817) on chromosome 10q26.
The designation CDCBM8 was previously used to represent a phenotype caused by mutation in the TUBA8 gene (see 605742.0001) on chromosome 22q11; the patients with this phenotype were subsequently found to have a homozygous mutation in the SNAP29 gene (604202.0002), also on chromosome 22q11, that may have been responsible for the disorder. The same mutation in SNAP29 causes a similar disorder, CEDNIK syndrome (609528).
See also lissencephaly (e.g., LIS1, 607432), which shows overlapping features and may result from mutation in tubulin genes.|OMIM|N|
C3808414|Perrault syndrome is characterized by sensorineural hearing loss (SNHL) in males and females and ovarian dysfunction in females. SNHL is bilateral and ranges from profound with prelingual (congenital) onset to moderate with early-childhood onset. When onset is in early childhood, hearing loss can be progressive. Ovarian dysfunction ranges from gonadal dysgenesis (absent or streak gonads) manifesting as primary amenorrhea to primary ovarian insufficiency (POI) defined as cessation of menses before age 40 years. Fertility in affected males is reported as normal (although the number of reported males is limited). Neurologic features described in some individuals with Perrault syndrome include learning difficulties and developmental delay, cerebellar ataxia, and motor and sensory peripheral neuropathy.|GeneReviews|N|
C3808494|Deletions at 2p16.3 involving exons of NRXN1 are associated with susceptibility to autism, schizophrenia (SCZD17), developmental delay, intellectual disability, and dysmorphic features. The phenotype is highly variable and shows incomplete penetrance (summary by Dabell et al., 2013).
For a phenotypic description and a discussion of genetic heterogeneity of schizophrenia, see 181500.|OMIM|N|
C3808553|Bone marrow failure syndrome-1 (BMFS1) is an autosomal dominant condition characterized by early-onset aplastic anemia or pancytopenia in some patients, and adult-onset myelodysplasia in others. Deafness or labyrinthitis also has been observed in affected individuals (Kirwan et al., 2012).
Genetic Heterogeneity of Bone Marrow Failure Syndrome
See also BMFS2 (615715), caused by mutation in the ERCC6L2 gene (615667) on chromosome 9q22; BMFS3 (617052), caused by mutation in the DNAJC21 gene (617048) on chromosome 5p13; BMFS4 (618116), caused by mutation in the MYSM1 gene (612176) on chromosome 1p32; BMFS5 (618165), caused by mutation in the TP53 gene (191170) on chromosome 17p13; BMFS6 (618849), caused by mutation in the MDM4 gene (602704) on chromosome 1q32; BMFS7 (AMEDS; 619151), caused by mutation in the ADH5 gene (103710) on chromosome 4q accompanied by a specific mutation in the ALDH2 gene (100650) on chromosome 12q24; and BMFS8 (ZHS; 620501), caused by mutation in the SLC30A7 gene (611149) on chromosome 1p21.|OMIM|N|
C3808589|Autosomal dominant IRF8 deficiency, or IMD32A, causes an abnormal peripheral blood myeloid phenotype with a marked loss of CD11C (ITGAX; 151510)-positive/CD1C (188340)-positive dendritic cells, resulting in selective susceptibility to mycobacterial infections (Hambleton et al., 2011).|OMIM|N|
C3808667|Familial episodic pain syndrome-1 is an autosomal dominant neurologic disorder characterized by onset in infancy of episodic debilitating upper body pain triggered by fasting, cold, and physical stress (summary by Kremeyer et al., 2010).
Genetic Heterogeneity of Familial Episodic Pain Syndrome
See also FEPS2 (615551), caused by mutation in the SCN10A gene (604427) on chromosome 3p22, and FEPS3 (615552), caused by mutation in the SCN11A gene (604385) on chromosome 3p22.|OMIM|N|
C3808668|Intermittent pain, i.e., pain that occurs occasionally and at irregular intervals.|HPO|N|
C3808739|Congenital myasthenic syndromes are genetic disorders of the neuromuscular junction (NMJ) that are classified by the site of the transmission defect: presynaptic, synaptic, and postsynaptic. CMS8 is an autosomal recessive disorder characterized by prominent defects of both the pre- and postsynaptic regions. Affected individuals have onset of muscle weakness in early childhood; the severity of the weakness and muscles affected is variable (summary by Maselli et al., 2012).
For a discussion of genetic heterogeneity of CMS, see CMS1A (601462).|OMIM|N|
C3808761|Loss of cognitive developmental skills, as manifested by loss of developmental cognitive milestones.|HPO|N|
C3808786|Oculocutaneous albinism type VII (OCA7) is an autosomal recessive hypopigmentation disorder with predominant eye involvement including nystagmus, iris transillumination, and crossed asymmetry of the cortical visual response (Gronskov et al., 2013).
For a general phenotypic description and a discussion of genetic heterogeneity of oculocutaneous albinism, see OCA1 (203100).|OMIM|N|
C3808800|Mutations in the CRYGB gene have been found to cause multiple types of cataract, which have been described as lamellar, anterior polar, and complete.|OMIM|N|
C3808820|Chronic hepatitis associated with infection by cryptosporidia, as demonstrated (for example) by immunohistochemistry of liver tissue.|HPO|N|
C3808828|Increased susceptibility to gastroenteritis, an infectious inflammationof the stomach and small intestines manifested by signs and symptoms such as diarheas and abdominal pain, as manifested by recurrent episodes of gastroenteritis.|HPO|N|
C3808844|Osteogenesis imperfecta (OI) is a connective tissue disorder characterized by bone fragility and low bone mass. Due to considerable phenotypic variability, Sillence et al. (1979) developed a classification of OI subtypes based on clinical features and disease severity: OI type I, with blue sclerae (166200); perinatal lethal OI type II, also known as congenital OI (166210); OI type III, a progressively deforming form with normal sclerae (259420); and OI type IV, with normal sclerae (166220). Most forms of OI are autosomal dominant with mutations in one of the 2 genes that code for type I collagen alpha chains, COL1A1 (120150) and COL1A2 (120160). Keupp et al. (2013) and Pyott et al. (2013) described osteogenesis imperfecta type XV, an autosomal recessive form of the disorder characterized by early-onset recurrent fractures, bone deformity, significant reduction of bone density, short stature, and, in some patients, blue sclera. Tooth development and hearing are normal. Learning and developmental delays and brain anomalies have been observed in some patients.|OMIM|N|
C3808874|Advanced sleep phase syndrome is characterized by very early sleep onset and offset (summary by Jones et al., 1999).
For a discussion of genetic heterogeneity of advanced sleep phase syndrome, see FASPS1 (604348).|OMIM|N|
C3808876|Multiple self-healing palmoplantar carcinoma (MSPC) is characterized by recurrent keratoacanthomas in palmoplantar skin as well as in conjunctival and corneal epithelia. In addition, patients experience a high susceptibility to malignant squamous cell carcinoma (summary by Zhong et al., 2016).|OMIM|N|
C3808899|Mitochondrial complex V deficiency is a shortage (deficiency) of a protein complex called complex V or a loss of its function. Complex V is found in cell structures called mitochondria, which convert the energy from food into a form that cells can use. Complex V is the last of five mitochondrial complexes that carry out a multistep process called oxidative phosphorylation, through which cells derive much of their energy.\n\nMitochondrial complex V deficiency can cause a wide variety of signs and symptoms affecting many organs and systems of the body, particularly the nervous system and the heart. The disorder can be life-threatening in infancy or early childhood. Affected individuals may have feeding problems, slow growth, low muscle tone (hypotonia), extreme fatigue (lethargy), and developmental delay. They tend to develop elevated levels of lactic acid in the blood (lactic acidosis), which can cause nausea, vomiting, weakness, and rapid breathing. High levels of ammonia in the blood (hyperammonemia) can also occur in affected individuals, and in some cases result in abnormal brain function (encephalopathy) and damage to other organs.\n\nAnother common feature of mitochondrial complex V deficiency is hypertrophic cardiomyopathy. This condition is characterized by thickening (hypertrophy) of the heart (cardiac) muscle that can lead to heart failure. People with mitochondrial complex V deficiency may also have a characteristic pattern of facial features, including a high forehead, curved eyebrows, outside corners of the eyes that point downward (downslanting palpebral fissures), a prominent bridge of the nose, low-set ears, thin lips, and a small chin (micrognathia).\n\nSome people with mitochondrial complex V deficiency have groups of signs and symptoms that are classified as a specific syndrome. For example, mitochondrial complex V deficiency can cause a condition called neuropathy, ataxia, and retinitis pigmentosa (NARP). NARP causes a variety of signs and symptoms chiefly affecting the nervous system. Beginning in childhood or early adulthood, most people with NARP experience numbness, tingling, or pain in the arms and legs (sensory neuropathy); muscle weakness; and problems with balance and coordination (ataxia). Many affected individuals also have cognitive impairment and an eye disorder called retinitis pigmentosa that causes vision loss.\n\nA condition called Leigh syndrome can also be caused by mitochondrial complex V deficiency. Leigh syndrome is characterized by progressive loss of mental and movement abilities (developmental or psychomotor regression) and typically results in death within 2 to 3 years after the onset of symptoms. Both NARP and Leigh syndrome can also have other causes.|MedlinePlus Genetics|N|
C3808913|A schizophrenia that has material basis in a mutation of SLC1A1 on chromosome 9p24.2.|MONDO|N|
C3808920|STEAP3/TSAP6-related sideroblastic anemia is a very rare severe non-syndromic hypochromic anemia, which is characterized by transfusion-dependent hypochromic, poorly regenerative anemia, iron overload, resembling non-syndromic sideroblastic anemia (see this term) except for increased erythrocyte protoporphyrin levels.|ORDO|N|
C3808935|Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the LAMA4 gene.|MONDO|N|
C3808940|A rare genetic lipodystrophy with characteristics of abnormal subcutaneous fat distribution, resulting in preservation of visceral, neck and axillary fat and absence of lower limb and gluteofemoral subcutaneous fat. Additional clinical features are acanthosis nigricans, insulin-resistant type II diabetes mellitus, dyslipidaemia, and hypertension, leading to pancreatitis, hepatomegaly and hepatic steatosis.|SNOMEDCT_US|N|
C3808953|Any nephrotic syndrome in which the cause of the disease is a mutation in the ARHGDIA gene.|MONDO|N|
C3808964|Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is an autosomal recessive disorder with congenital muscular dystrophy resulting in muscle weakness early in life and brain and eye anomalies. It is usually associated with delayed psychomotor development and shortened life expectancy. The phenotype includes the alternative clinical designations Walker-Warburg syndrome (WWS) and muscle-eye-brain disease (MEB). The disorder represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1; 128239), collectively known as dystroglycanopathies (summary by Stevens et al., 2013).
For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (236670).|OMIM|N|
C3808971|Isolated gonadotropin-releasing hormone (GnRH) deficiency (IGD) is characterized by inappropriately low serum concentrations of the gonadotropins LH (luteinizing hormone) and FSH (follicle-stimulating hormone) in the presence of low circulating concentrations of sex steroids. IGD is associated with a normal sense of smell (normosmic IGD) in approximately 40% of affected individuals and an impaired sense of smell (Kallmann syndrome) in approximately 60%. IGD can first become apparent in infancy, adolescence, or adulthood. Infant boys with congenital IGD often have micropenis and cryptorchidism. Adolescents and adults with IGD have clinical evidence of hypogonadism and incomplete sexual maturation on physical examination. Adult males with IGD tend to have prepubertal testicular volume (i.e., <4 mL), absence of secondary sexual features (e.g., facial and axillary hair growth, deepening of the voice), decreased muscle mass, diminished libido, erectile dysfunction, and infertility. Adult females have little or no breast development and primary amenorrhea. Although skeletal maturation is delayed, the rate of linear growth is usually normal except for the absence of a distinct pubertal growth spurt.|GeneReviews|N|
C3808975|Isolated gonadotropin-releasing hormone (GnRH) deficiency (IGD) is characterized by inappropriately low serum concentrations of the gonadotropins LH (luteinizing hormone) and FSH (follicle-stimulating hormone) in the presence of low circulating concentrations of sex steroids. IGD is associated with a normal sense of smell (normosmic IGD) in approximately 40% of affected individuals and an impaired sense of smell (Kallmann syndrome) in approximately 60%. IGD can first become apparent in infancy, adolescence, or adulthood. Infant boys with congenital IGD often have micropenis and cryptorchidism. Adolescents and adults with IGD have clinical evidence of hypogonadism and incomplete sexual maturation on physical examination. Adult males with IGD tend to have prepubertal testicular volume (i.e., <4 mL), absence of secondary sexual features (e.g., facial and axillary hair growth, deepening of the voice), decreased muscle mass, diminished libido, erectile dysfunction, and infertility. Adult females have little or no breast development and primary amenorrhea. Although skeletal maturation is delayed, the rate of linear growth is usually normal except for the absence of a distinct pubertal growth spurt.|GeneReviews|N|
C3808977|Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome (CAMRQ) is a genetically heterogeneous disorder characterized by congenital cerebellar ataxia and impaired intellectual development (summary by Gulsuner et al., 2011).
For a discussion of genetic heterogeneity of CAMRQ, see CAMRQ1 (224050).|OMIM|N|
C3808981|Isolated gonadotropin-releasing hormone (GnRH) deficiency (IGD) is characterized by inappropriately low serum concentrations of the gonadotropins LH (luteinizing hormone) and FSH (follicle-stimulating hormone) in the presence of low circulating concentrations of sex steroids. IGD is associated with a normal sense of smell (normosmic IGD) in approximately 40% of affected individuals and an impaired sense of smell (Kallmann syndrome) in approximately 60%. IGD can first become apparent in infancy, adolescence, or adulthood. Infant boys with congenital IGD often have micropenis and cryptorchidism. Adolescents and adults with IGD have clinical evidence of hypogonadism and incomplete sexual maturation on physical examination. Adult males with IGD tend to have prepubertal testicular volume (i.e., <4 mL), absence of secondary sexual features (e.g., facial and axillary hair growth, deepening of the voice), decreased muscle mass, diminished libido, erectile dysfunction, and infertility. Adult females have little or no breast development and primary amenorrhea. Although skeletal maturation is delayed, the rate of linear growth is usually normal except for the absence of a distinct pubertal growth spurt.|GeneReviews|N|
C3808983|Isolated gonadotropin-releasing hormone (GnRH) deficiency (IGD) is characterized by inappropriately low serum concentrations of the gonadotropins LH (luteinizing hormone) and FSH (follicle-stimulating hormone) in the presence of low circulating concentrations of sex steroids. IGD is associated with a normal sense of smell (normosmic IGD) in approximately 40% of affected individuals and an impaired sense of smell (Kallmann syndrome) in approximately 60%. IGD can first become apparent in infancy, adolescence, or adulthood. Infant boys with congenital IGD often have micropenis and cryptorchidism. Adolescents and adults with IGD have clinical evidence of hypogonadism and incomplete sexual maturation on physical examination. Adult males with IGD tend to have prepubertal testicular volume (i.e., <4 mL), absence of secondary sexual features (e.g., facial and axillary hair growth, deepening of the voice), decreased muscle mass, diminished libido, erectile dysfunction, and infertility. Adult females have little or no breast development and primary amenorrhea. Although skeletal maturation is delayed, the rate of linear growth is usually normal except for the absence of a distinct pubertal growth spurt.|GeneReviews|N|
C3808986|Isolated gonadotropin-releasing hormone (GnRH) deficiency (IGD) is characterized by inappropriately low serum concentrations of the gonadotropins LH (luteinizing hormone) and FSH (follicle-stimulating hormone) in the presence of low circulating concentrations of sex steroids. IGD is associated with a normal sense of smell (normosmic IGD) in approximately 40% of affected individuals and an impaired sense of smell (Kallmann syndrome) in approximately 60%. IGD can first become apparent in infancy, adolescence, or adulthood. Infant boys with congenital IGD often have micropenis and cryptorchidism. Adolescents and adults with IGD have clinical evidence of hypogonadism and incomplete sexual maturation on physical examination. Adult males with IGD tend to have prepubertal testicular volume (i.e., <4 mL), absence of secondary sexual features (e.g., facial and axillary hair growth, deepening of the voice), decreased muscle mass, diminished libido, erectile dysfunction, and infertility. Adult females have little or no breast development and primary amenorrhea. Although skeletal maturation is delayed, the rate of linear growth is usually normal except for the absence of a distinct pubertal growth spurt.|GeneReviews|N|
C3808988|Fanconi anemia (FA) is characterized by physical abnormalities, bone marrow failure, and increased risk for malignancy. Physical abnormalities, present in approximately 75% of affected individuals, include one or more of the following: short stature, abnormal skin pigmentation, skeletal malformations of the upper and/or lower limbs, microcephaly, and ophthalmic and genitourinary tract anomalies. Progressive bone marrow failure with pancytopenia typically presents in the first decade, often initially with thrombocytopenia or leukopenia. The incidence of acute myeloid leukemia is 13% by age 50 years. Solid tumors – particularly of the head and neck, skin, and genitourinary tract – are more common in individuals with FA.|GeneReviews|N|
C3808991|Individuals with NGLY1-related congenital disorder of deglycosylation (NGLY1-CDDG) typically display a clinical tetrad of developmental delay / intellectual disability in the mild to profound range, hypo- or alacrima, elevated liver transaminases that may spontaneously resolve in childhood, and a complex hyperkinetic movement disorder that can include choreiform, athetoid, dystonic, myoclonic, action tremor, and dysmetric movements. About half of affected individuals will develop clinical seizures. Other findings may include obstructive and/or central sleep apnea, oral motor defects that affect feeding ability, auditory neuropathy, constipation, scoliosis, and peripheral neuropathy.|GeneReviews|N|
C3809001|Mutations in the MIP gene have been found to cause multiple types of cataract, which have been described as 'polymorphic,' progressive punctate lamellar, cortical, anterior and posterior polar, nonprogressive lamellar with sutural opacities, embryonic nuclear, and pulverulent cortical.|OMIM|N|
C3809004|CTRCT19 is characterized by autosomal dominant or recessive cataract of various types, including pulverulent, late-onset cortical pulverulent, total, nuclear, membranous, lamellar, sutural, and posterior polar cataract. Other ocular features include nystagmus, amblyopia, and esotropia. Intrafamilial and intraindividual variability has been reported (Pras et al., 2002; Ponnam et al., 2008; Berry et al., 2020; Pei et al., 2020; Wang et al., 2021; Fernandez-Alcalde et al., 2021; Berry et al., 2022).|OMIM|N|
C3809005|Cardiofaciocutaneous (CFC) syndrome is characterized by cardiac abnormalities (pulmonic stenosis and other valve dysplasias, septal defects, hypertrophic cardiomyopathy, rhythm disturbances), distinctive craniofacial appearance, and cutaneous abnormalities (including xerosis, hyperkeratosis, ichthyosis, keratosis pilaris, ulerythema ophryogenes, eczema, pigmented moles, hemangiomas, and palmoplantar hyperkeratosis). The hair is typically sparse, curly, fine or thick, woolly or brittle; eyelashes and eyebrows may be absent or sparse. Nails may be dystrophic or fast growing. Some form of neurologic and/or cognitive delay (ranging from mild to severe) is seen in all affected individuals. Neoplasia, mostly acute lymphoblastic leukemia, has been reported in some individuals.|GeneReviews|N|
C3809006|Cardiofaciocutaneous (CFC) syndrome is characterized by cardiac abnormalities (pulmonic stenosis and other valve dysplasias, septal defects, hypertrophic cardiomyopathy, rhythm disturbances), distinctive craniofacial appearance, and cutaneous abnormalities (including xerosis, hyperkeratosis, ichthyosis, keratosis pilaris, ulerythema ophryogenes, eczema, pigmented moles, hemangiomas, and palmoplantar hyperkeratosis). The hair is typically sparse, curly, fine or thick, woolly or brittle; eyelashes and eyebrows may be absent or sparse. Nails may be dystrophic or fast growing. Some form of neurologic and/or cognitive delay (ranging from mild to severe) is seen in all affected individuals. Neoplasia, mostly acute lymphoblastic leukemia, has been reported in some individuals.|GeneReviews|N|
C3809007|Cardiofaciocutaneous (CFC) syndrome is characterized by cardiac abnormalities (pulmonic stenosis and other valve dysplasias, septal defects, hypertrophic cardiomyopathy, rhythm disturbances), distinctive craniofacial appearance, and cutaneous abnormalities (including xerosis, hyperkeratosis, ichthyosis, keratosis pilaris, ulerythema ophryogenes, eczema, pigmented moles, hemangiomas, and palmoplantar hyperkeratosis). The hair is typically sparse, curly, fine or thick, woolly or brittle; eyelashes and eyebrows may be absent or sparse. Nails may be dystrophic or fast growing. Some form of neurologic and/or cognitive delay (ranging from mild to severe) is seen in all affected individuals. Neoplasia, mostly acute lymphoblastic leukemia, has been reported in some individuals.|GeneReviews|N|
C3809013|Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the KIF5C gene.|MONDO|N|
C3809031|Severe congenital neutropenia-5 is an autosomal recessive primary immunodeficiency disorder characterized primarily by neutropenia and neutrophil dysfunction, a lack of response to G-CSF, life-threatening infections, bone marrow fibrosis, and renal extramedullary hematopoiesis (summary by Vilboux et al., 2013).
For a general phenotypic description and a discussion of genetic heterogeneity of severe congenital neutropenia, see SCN1 (202700).|OMIM|N|
C3809042|Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is a autosomal recessive disorder associated with severe neurologic defects and resulting in early infantile death. The phenotype includes the alternative clinical designations Walker-Warburg syndrome (WWS) and muscle-eye-brain disease (MEB). The disorder represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1; 128239), collectively known as dystroglycanopathies (summary by Buysse et al., 2013).
For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (236670).|OMIM|N|
C3809084|Infantile myofibromatosis is a disorder of mesenchymal proliferation characterized by the development of benign tumors in the skin, muscle, bone, and viscera. Soft tissue lesions may regress spontaneously. Visceral lesions are associated with high morbidity and mortality (summary by Martignetti et al., 2013).
For a discussion of genetic heterogeneity of infantile myofibromatosis, see IMF1 (228550).|OMIM|N|
C3809087|Primary ciliary dyskinesia-21 (CILD21) is an autosomal recessive ciliopathy characterized by infantile onset of chronic sinopulmonary infections resulting from abnormal ciliary function. Electron microscopy of respiratory epithelial cells shows normal outer and inner dynein arms, but absence of nexin links and defects in the nexin-dynein regulatory complex (N-DRC). Video microscopy of patient cilia shows an increased beat frequency with decreased bending amplitude (summary by Wirschell et al., 2013).
For a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400).|OMIM|N|
C3809092|Adams-Oliver syndrome (AOS) is characterized by aplasia cutis congenita (ACC) of the scalp and terminal transverse limb defects (TTLD). ACC lesions usually occur in the midline of the parietal or occipital regions, but can also occur on the abdomen or limbs. At birth, an ACC lesion may already have the appearance of a healed scar. ACC lesions less than 5 cm often involve only the skin and almost always heal over a period of months; larger lesions are more likely to involve the skull and possibly the dura, and are at greater risk for complications, which can include infection, hemorrhage, or thrombosis, and can result in death. The limb defects range from mild (unilateral or bilateral short distal phalanges) to severe (complete absence of all toes or fingers, feet or hands, or more, often resembling an amputation). The lower extremities are almost always more severely affected than the upper extremities. Additional major features frequently include cardiovascular malformations/dysfunction (23%), brain anomalies, and less frequently renal, liver, and eye anomalies.|GeneReviews|N|
C3809104|Any proximal symphalangism in which the cause of the disease is a mutation in the GDF5 gene.|MONDO|N|
C3809105|Perrault syndrome is characterized by sensorineural hearing loss (SNHL) in males and females and ovarian dysfunction in females. SNHL is bilateral and ranges from profound with prelingual (congenital) onset to moderate with early-childhood onset. When onset is in early childhood, hearing loss can be progressive. Ovarian dysfunction ranges from gonadal dysgenesis (absent or streak gonads) manifesting as primary amenorrhea to primary ovarian insufficiency (POI) defined as cessation of menses before age 40 years. Fertility in affected males is reported as normal (although the number of reported males is limited). Neurologic features described in some individuals with Perrault syndrome include learning difficulties and developmental delay, cerebellar ataxia, and motor and sensory peripheral neuropathy.|GeneReviews|N|
C3809147|Dowling-Degos disease (DDD) is an autosomal dominant genodermatosis characterized by reticular pigmentation, usually in a flexural distribution. However, generalized DDD can also occur, with numerous hypopigmented or erythematous macules and papules on the neck, chest, and abdomen. The histopathology of DDD shows characteristic thin branch-like patterns of epidermal downgrowth (summary by Li et al., 2013).
Review of Reticulate Pigment Disorders 
Muller et al. (2012) reviewed the spectrum of reticulate pigment disorders of the skin, tabulating all reported cases of patients with Dowling-Degos disease, reticulate acropigmentation of Kitamura (RAK), reticulate acropigmentation of Dohi (DSH, RAD; 127400), Galli-Galli disease (GGD), and Haber syndrome (HS). Of 82 cases, 26 (31.7%) were clinically diagnosed as DDD, 13 (15.9%) as RAD, 11 (13.4%) as GGD, 8 (9.8%) as RAK, and 8 (9.8%) as HS; in addition, 16 (19.5%) of the cases showed overlap between DDD and RAK. Muller et al. (2012) also published photographs of an affected individual exhibiting an overlap of clinical features of DDD, GGD, RAD, and RAK. The authors noted that in reticulate disorders of the skin, the main disease entity is DDD, with a subset of cases exhibiting acantholysis (GGD), facial erythema (HS), or an acral distribution (RAD; RAK). Muller et al. (2012) concluded that all reticulate pigment diseases of the skin are varying manifestations of a single entity.
For a discussion of genetic heterogeneity of reticulate pigment disorders, see 179850.|OMIM|N|
C3809160|Shaheen syndrome is an autosomal recessive form of syndromic mental retardation. Affected individuals show severe intellectual disability, hypohidrosis, dental enamel hypoplasia, and hyperkeratosis of the palms and soles. Some may develop mild microcephaly (summary by Shaheen et al., 2013).|OMIM|N|
C3809165|Multiple mitochondrial dysfunctions syndrome-3 (MMDS3) is an autosomal recessive severe neurodegenerative disorder characterized by loss of previously acquired developmental milestones in the first months or years of life. Some affected patients have normal development in early infancy before the onset of symptoms, whereas others show delays from birth. Features included loss of motor function, spasticity, pyramidal signs, loss of speech, and cognitive impairment. The disease course is highly variable: some patients die of respiratory failure early in childhood, whereas some survive but may be bedridden with a feeding tube. Less commonly, some patients may survive and have a stable course with motor deficits and mild or even absent cognitive impairment, although there may be fluctuating symptoms, often in response to infection. Other variable features include visual problems and seizures. Brain imaging shows diffuse leukodystrophy in the subcortical region, brainstem, cerebellum, and spinal cord. Laboratory studies tend to show increased lactate and CSF glycine, and decreased activity of mitochondrial complexes I and II, although these findings are also variable. There may be additional biochemical evidence of mitochondrial dysfunction (summary by Liu et al., 2018).
For a general description and a discussion of genetic heterogeneity of multiple mitochondrial dysfunctions syndrome, see MMDS1 (605711).|OMIM|N|
C3809173|TBC1D24-related disorders comprise a continuum of features that were originally described as distinct, recognized phenotypes: DOORS syndrome (deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures). Profound sensorineural hearing loss, onychodystrophy, osteodystrophy, intellectual disability / developmental delay, and seizures. Familial infantile myoclonic epilepsy (FIME). Early-onset myoclonic seizures, focal epilepsy, dysarthria, and mild-to-moderate intellectual disability. Progressive myoclonus epilepsy (PME). Action myoclonus, tonic-clonic seizures, progressive neurologic decline, and ataxia. Early-infantile epileptic encephalopathy 16 (EIEE16). Epileptiform EEG abnormalities which themselves are believed to contribute to progressive disturbance in cerebral function. Autosomal recessive nonsyndromic hearing loss, DFNB86. Profound prelingual deafness. Autosomal dominant nonsyndromic hearing loss, DFNA65. Slowly progressive deafness with onset in the third decade, initially affecting the high frequencies.|GeneReviews|N|
C3809192|Pulmonary arterial hypertension is a progressive disorder characterized by abnormally high blood pressure (hypertension) in the pulmonary artery, the blood vessel that carries blood from the heart to the lungs. Pulmonary arterial hypertension is one form of a broader condition known as pulmonary hypertension. Pulmonary hypertension occurs when most of the very small arteries throughout the lungs narrow in diameter, which increases the resistance to blood flow through the lungs. To overcome the increased resistance, blood pressure increases in the pulmonary artery and in the right ventricle of the heart, which is the chamber that pumps blood into the pulmonary artery. Ultimately, the increased blood pressure can damage the right ventricle of the heart.\n\nSigns and symptoms of pulmonary arterial hypertension occur when increased blood pressure cannot fully overcome the elevated resistance. As a result, the flow of oxygenated blood from the lungs to the rest of the body is insufficient. Shortness of breath (dyspnea) during exertion and fainting spells are the most common symptoms of pulmonary arterial hypertension. People with this disorder may experience additional symptoms, particularly as the condition worsens.  Other symptoms include dizziness, swelling (edema) of the ankles or legs, chest pain, and a rapid heart rate.|MedlinePlus Genetics|N|
C3809198|Primary pulmonary hypertension is a rare progressive disease characterized by increased pulmonary artery pressure in the absence of common causes of pulmonary hypertension, such as chronic heart, lung, or thromboembolic disease. There is often vascular remodeling. The clinical presentation can be nonspecific, and patients often receive a diagnosis late in their clinical course (summary by Ma et al., 2013).
For a general phenotypic description and a discussion of genetic heterogeneity of primary pulmonary hypertension, see PPH1 (178600).|OMIM|N|
C3809199|Early activation of the hypothalamic-pituitary-gonadal axis results in gonadotropin-dependent precocious puberty, also known as central precocious puberty, which is clinically defined by the development of secondary sexual characteristics before the age of 8 years in girls and 9 years in boys. Pubertal timing is influenced by complex interactions among genetic, nutritional, environmental, and socioeconomic factors. The timing of puberty is associated with risks of subsequent disease: earlier age of menarche in girls is associated with increased risk of breast cancer, endometrial cancer, obesity, type 2 diabetes, and cardiovascular disease. Central precocious puberty has also been associated with an increased incidence of conduct and behavior disorders during adolescence (summary by Abreu et al., 2013).
For discussion of genetic heterogeneity of central precocious puberty, see CPPB1 (176400).|OMIM|N|
C3809209|Nemaline myopathy-8 is a severe autosomal recessive muscle disorder characterized by fetal akinesia or hypokinesia, followed by contractures, fractures, respiratory failure, and swallowing difficulties apparent at birth. Most patients die in infancy. Skeletal muscle biopsy shows numerous small nemaline bodies, often with no normal myofibrils (summary by Ravenscroft et al., 2013).
For a discussion of genetic heterogeneity of nemaline myopathy, see NEM3 (161800).|OMIM|N|
C3809210|The features of Ehlers-Danlos syndrome spondylodysplastic type 2 (EDSSPD2) include an aged appearance, developmental delay, short stature, craniofacial disproportion, generalized osteopenia, defective wound healing, hypermobile joints, hypotonic muscles, and loose but elastic skin (Okajima et al., 1999).
For a discussion of genetic heterogeneity of the spondylodysplastic type of Ehlers-Danlos syndrome, see 130070.|OMIM|N|
C3809221|MDDGB14 is an autosomal recessive congenital muscular dystrophy characterized by severe muscle weakness apparent in infancy and impaired intellectual development. Some patients may have additional features, such as microcephaly, cardiac dysfunction, seizures, or cerebellar hypoplasia. It is part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1; 128239), collectively known as  'dystroglycanopathies' (summary by Carss et al., 2013).
For a discussion of genetic heterogeneity of congenital muscular dystrophy-dystroglycanopathy type B, see MDDGB1 (613155).|OMIM|N|
C3809233|Noonan syndrome (NS) is characterized by characteristic facies, short stature, congenital heart defect, and developmental delay of variable degree. Other findings can include broad or webbed neck, unusual chest shape with superior pectus carinatum and inferior pectus excavatum, cryptorchidism, varied coagulation defects, lymphatic dysplasias, and ocular abnormalities. Although birth length is usually normal, final adult height approaches the lower limit of normal. Congenital heart disease occurs in 50%-80% of individuals. Pulmonary valve stenosis, often with dysplasia, is the most common heart defect and is found in 20%-50% of individuals. Hypertrophic cardiomyopathy, found in 20%-30% of individuals, may be present at birth or develop in infancy or childhood. Other structural defects include atrial and ventricular septal defects, branch pulmonary artery stenosis, and tetralogy of Fallot. Up to one fourth of affected individuals have mild intellectual disability, and language impairments in general are more common in NS than in the general population.|GeneReviews|N|
C3809243|An autosomal dominant hypocalcemia disease that has material basis in heterozygous mutation in the GNA11 gene on chromosome 19p13.|MONDO|N|
C3809250|Estrogen resistance (ESTRR) is characterized by absence of puberty with elevated estradiol and gonadotropic hormones, as well as markedly delayed bone maturation. Female patients show absent breast development, small uterus, and enlarged multicystic ovaries; male patients may show small testes (Bernard et al., 2017). Some patients exhibit continued growth into adulthood (Smith et al., 1994).|OMIM|N|
C3809278|CHD2-related neurodevelopmental disorders are characterized by early-onset epileptic encephalopathy (i.e., refractory seizures and cognitive slowing or regression associated with frequent ongoing epileptiform activity). Seizure onset is typically between ages six months and four years. Seizure types typically include drop attacks, myoclonus, and rapid onset of multiple seizure types associated with generalized spike-wave on EEG, atonic-myoclonic-absence seizures, and clinical photosensitivity. Intellectual disability and/or autism spectrum disorders are common.|GeneReviews|N|
C3809288|Some individuals with left ventricular noncompaction experience no symptoms at all; others have heart problems that can include sudden cardiac death. Additional signs and symptoms include abnormal blood clots, irregular heart rhythm (arrhythmia), a sensation of fluttering or pounding in the chest (palpitations), extreme fatigue during exercise (exercise intolerance), shortness of breath (dyspnea), fainting (syncope), swelling of the legs (lymphedema), and trouble laying down flat. Some affected individuals have features of other heart defects. Left ventricular noncompaction can be diagnosed at any age, from birth to late adulthood. Approximately two-thirds of individuals with left ventricular noncompaction develop heart failure.\n\nLeft ventricular noncompaction is a heart (cardiac) muscle disorder that occurs when the lower left chamber of the heart (left ventricle), which helps the heart pump blood, does not develop correctly. Instead of the muscle being smooth and firm, the cardiac muscle in the left ventricle is thick and appears spongy. The abnormal cardiac muscle is weak and has an impaired ability to pump blood because it either cannot completely contract or it cannot completely relax. For the heart to pump blood normally, cardiac muscle must contract and relax fully.|MedlinePlus Genetics|N|
C3809299|Cone-rod dystrophy is a group of related eye disorders that causes vision loss, which becomes more severe over time. These disorders affect the retina, which is the layer of light-sensitive tissue at the back of the eye. In people with cone-rod dystrophy, vision loss occurs as the light-sensing cells of the retina gradually deteriorate.\n\nThere are more than 30 types of cone-rod dystrophy, which are distinguished by their genetic cause and their pattern of inheritance: autosomal recessive, autosomal dominant, and X-linked. Additionally, cone-rod dystrophy can occur alone without any other signs and symptoms or it can occur as part of a syndrome that affects multiple parts of the body.\n\nThe first signs and symptoms of cone-rod dystrophy, which often occur in childhood, are usually decreased sharpness of vision (visual acuity) and increased sensitivity to light (photophobia). These features are typically followed by impaired color vision (dyschromatopsia), blind spots (scotomas) in the center of the visual field, and partial side (peripheral) vision loss. Over time, affected individuals develop night blindness and a worsening of their peripheral vision, which can limit independent mobility. Decreasing visual acuity makes reading increasingly difficult and most affected individuals are legally blind by mid-adulthood. As the condition progresses, individuals may develop involuntary eye movements (nystagmus).|MedlinePlus Genetics|N|
C3809301|Increased amount of pigmentation in the fovea centralis.|HPO|N|
C3809309|CMTRIC is an autosomal recessive peripheral neuropathy characterized by distal sensory impairment predominantly affecting the lower limbs and resulting in walking difficulties due to muscle weakness and atrophy. The upper limbs may also be affected. Electrophysiologic studies and sural nerve biopsy show mixed features of demyelinating and axonal neuropathy. The age at onset and the severity of the disease are variable (summary by Azzedine et al., 2013).
For a discussion of genetic heterogeneity of autosomal recessive intermediate CMT, see CMTRIA (608340).|OMIM|N|
C3809311|Atrial fibrillation is the most common sustained cardiac rhythm disturbance, affecting more than 2 million Americans, with an overall prevalence of 0.89%. The prevalence increases rapidly with age, to 2.3% between the ages of 40 and 60 years, and to 5.9% over the age of 65. The most dreaded complication is thromboembolic stroke (Brugada et al., 1997).
For a discussion of genetic heterogeneity of familial atrial fibrillation, see ATFB1 (608583).|OMIM|N|
C3809312|Atrial fibrillation is the most common sustained cardiac rhythm disturbance, affecting more than 2 million Americans, with an overall prevalence of 0.89%. The prevalence increases rapidly with age, to 2.3% between the ages of 40 and 60 years, and to 5.9% over the age of 65. The most dreaded complication is thromboembolic stroke (Brugada et al., 1997).
For a discussion of genetic heterogeneity of familial atrial fibrillation, see ATFB1 (608583).|OMIM|N|
C3809320|The nephronophthisis (NPH) phenotype is characterized by reduced renal concentrating ability, chronic tubulointerstitial nephritis, cystic renal disease, and progression to end-stage renal disease (ESRD) before age 30 years. Three age-based clinical subtypes are recognized: infantile, juvenile, and adolescent/adult. Infantile NPH can present in utero with oligohydramnios sequence (limb contractures, pulmonary hypoplasia, and facial dysmorphisms) or postnatally with renal manifestations that progress to ESRD before age 3 years. Juvenile NPH, the most prevalent subtype, typically presents with polydipsia and polyuria, growth retardation, chronic iron-resistant anemia, or other findings related to chronic kidney disease (CKD). Hypertension is typically absent due to salt wasting. ESRD develops at a median age of 13 years. Ultrasound findings are increased echogenicity, reduced corticomedullary differentiation, and renal cysts (in 50% of affected individuals). Histologic findings include tubulointerstitial fibrosis, thickened and disrupted tubular basement membrane, sporadic corticomedullary cysts, and normal or reduced kidney size. Adolescent/adult NPH is clinically similar to juvenile NPH, but ESRD develops at a median age of 19 years. Within a subtype, inter- and intrafamilial variability in rate of progression to ESRD is considerable. Approximately 80%-90% of individuals with the NPH phenotype have no extrarenal features (i.e., they have isolated NPH); ~10%-20% have extrarenal manifestations that constitute a recognizable syndrome (e.g., Joubert syndrome, Bardet-Biedl syndrome, Jeune syndrome and related skeletal disorders, Meckel-Gruber syndrome, Senior-Løken syndrome, Leber congenital amaurosis, COACH syndrome, and oculomotor apraxia, Cogan type).|GeneReviews|N|
C3809332|Immunodeficiency-7 (IMD7) is an autosomal recessive immunologic disorder characterized by onset of recurrent bacterial and viral infections in infancy or early childhood. Affected individuals may also have features of immune dysregulation, including lymphadenopathy and presence of autoantibodies. Laboratory studies show increased serum IgE, low numbers of T cells, low TCR-alpha/beta cells, and increased TCR-gamma/delta cells. The disorder often results in death in childhood, although bone marrow transplant is effective (summary by Morgan et al., 2011 and Rawat et al., 2021).|OMIM|N|
C3809339|Combined oxidative phosphorylation deficiency-16 (COXPD16) is an autosomal recessive multisystem disorder with hypertrophic cardiomyopathy as a major feature.|OMIM|N|
C3809346|A dilated cardiomyopathy that has material basis in heterozygous mutation in the MYBPC3 gene on chromosome 11p11.|MONDO|N|
C3809352|Any Meckel syndrome in which the cause of the disease is a mutation in the TMEM231 gene.|MONDO|N|
C3809356|Multiple congenital anomalies-hypotonia-seizures syndrome is an autosomal recessive disorder characterized by neonatal hypotonia, lack of psychomotor development, seizures, dysmorphic features, and variable congenital anomalies involving the cardiac, urinary, and gastrointestinal systems. Most affected individuals die before 3 years of age (summary by Maydan et al., 2011). The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis.
For a discussion of genetic heterogeneity of MCAHS, see MCAHS1 (614080).
For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (610293).|OMIM|N|
C3809369|Any paroxysmal nocturnal hemoglobinuria in which the cause of the disease is a mutation in the PIGT gene.|MONDO|N|
C3809374|Early-onset epilepsy-5 with or without developmental delay (EPEO5) is an autosomal recessive neurologic disorder characterized by the onset of various types of seizures late in the first decade or during adolescence. Focal seizures are common. Most affected individuals have developmental delay, variable impaired intellectual development, and/or behavioral and neuropsychiatric abnormalities (Stogmann et al., 2013; Abdulkareem et al., 2023).
For a discussion of genetic heterogeneity of EPEO, see 617290.|OMIM|N|
C3809383|Immunodeficiency-8 with lymphoproliferation (IMD8) is an autosomal recessive primary immunodeficiency characterized by early-childhood onset of recurrent infections and lymphoproliferative disorders, often associated with EBV infection. Laboratory studies show defects in the numbers and function of certain lymphocyte subsets, particularly T cells (Moshous et al., 2013; Stray-Pedersen et al., 2014).|OMIM|N|
C3809394|Dyschromatosis universalis hereditaria (DUH) is a rare autosomal dominant genodermatosis characterized by irregularly shaped asymptomatic hyper- and hypopigmented macules that appear in infancy or early childhood and occur in a generalized distribution over the trunk, limbs, and sometimes the face. Involvement of the palms or soles is unusual. Abnormalities of hair and nails have been reported, and DUH may be associated with abnormalities of dermal connective tissue, nerve tissue, or other systemic complications (summary by Zhang et al., 2013).
For a discussion of genetic heterogeneity of DUH, see DUH1 (127500).|OMIM|N|
C3809414|Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the KIF2A gene.|MONDO|N|
C3809420|Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBG1 gene.|MONDO|N|
C3809427|Any azoospermia in which the cause of the disease is a mutation in the NANOS1 gene.|MONDO|N|
C3809431|Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the PHC1 gene.|MONDO|N|
C3809434|RHPD2 is an autosomal recessive multisystemic disorder with severe abnormalities apparent in utero and often resulting in fetal death or death in infancy. The main organs affected include the kidney, liver, and pancreas, although other abnormalities, including cardiac, skeletal, and lung defects, may also be present. Affected individuals often have situs inversus. The disorder results from a defect in ciliogenesis and ciliary function, as well as in cell proliferation and epithelial morphogenesis; thus, the clinical manifestations are highly variable (summary by Grampa et al., 2016).
For a discussion of genetic heterogeneity of renal-hepatic-pancreatic dysplasia, see RHPD1 (208540).|OMIM|N|
C3809443|Mitochondrial DNA depletion syndrome-12B is an autosomal recessive mitochondrial disorder characterized by childhood onset of slowly progressive hypertrophic cardiomyopathy and generalized skeletal myopathy resulting in exercise intolerance, and, in some patients, muscle weakness and atrophy. Skeletal muscle biopsy shows ragged-red fibers, mtDNA depletion, and accumulation of abnormal mitochondria (summary by Echaniz-Laguna et al., 2012).
For a discussion of genetic heterogeneity of mtDNA depletion syndromes, see MTDPS1 (603041).|OMIM|N|
C3809454|Infantile hypotonia with psychomotor retardation and characteristic facies (IHPRF) is a severe autosomal recessive neurologic disorder with onset at birth or in early infancy. Affected individuals show very poor, if any, normal cognitive development. Some patients are never learn to sit or walk independently (summary by Al-Sayed et al., 2013).
Genetic Heterogeneity of Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies
See also IHPRF2 (616801), caused by mutation in the UNC80 gene (612636) on chromosome 2q34; and IHPRF3 (616900), caused by mutation in the TBCK gene (616899) on chromosome 4q24.|OMIM|N|
C3809464|Myopia, or nearsightedness, is a refractive error of the eye. Light rays from a distant object are focused in front of the retina and those from a near object are focused in the retina; therefore distant objects are blurry and near objects are clear (summary by Kaiser et al., 2004).
For a discussion of genetic heterogeneity of susceptibility to myopia, see 160700.|OMIM|N|
C3809468|Inclusion body myopathy associated with Paget disease of bone (PDB) and/or frontotemporal dementia (IBMPFD) is characterized by adult-onset proximal and distal muscle weakness (clinically resembling a limb-girdle muscular dystrophy syndrome), early-onset PDB, and premature frontotemporal dementia (FTD). Muscle weakness progresses to involve other limb and respiratory muscles. PDB involves focal areas of increased bone turnover that typically lead to spine and/or hip pain and localized enlargement and deformity of the long bones; pathologic fractures occur on occasion. Early stages of FTD are characterized by dysnomia, dyscalculia, comprehension deficits, and paraphasic errors, with minimal impairment of episodic memory; later stages are characterized by inability to speak, auditory comprehension deficits for even one-step commands, alexia, and agraphia. Mean age at diagnosis for muscle disease and PDB is 42 years; for FTD, 56 years. Dilated cardiomyopathy, amyotrophic lateral sclerosis, and Parkinson disease are now known to be part of the spectrum of findings associated with IBMPFD.|GeneReviews|N|
C3809469|Inclusion body myopathy associated with Paget disease of bone (PDB) and/or frontotemporal dementia (IBMPFD) is characterized by adult-onset proximal and distal muscle weakness (clinically resembling a limb-girdle muscular dystrophy syndrome), early-onset PDB, and premature frontotemporal dementia (FTD). Muscle weakness progresses to involve other limb and respiratory muscles. PDB involves focal areas of increased bone turnover that typically lead to spine and/or hip pain and localized enlargement and deformity of the long bones; pathologic fractures occur on occasion. Early stages of FTD are characterized by dysnomia, dyscalculia, comprehension deficits, and paraphasic errors, with minimal impairment of episodic memory; later stages are characterized by inability to speak, auditory comprehension deficits for even one-step commands, alexia, and agraphia. Mean age at diagnosis for muscle disease and PDB is 42 years; for FTD, 56 years. Dilated cardiomyopathy, amyotrophic lateral sclerosis, and Parkinson disease are now known to be part of the spectrum of findings associated with IBMPFD.|GeneReviews|N|
C3809470|Epidermolysis bullosa simplex (EBS) is characterized by fragility of the skin (and mucosal epithelia in some instances) that results in non-scarring blisters and erosions caused by minor mechanical trauma. EBS is distinguished from other types of epidermolysis bullosa (EB) or non-EB skin fragility syndromes by the location of the blistering in relation to the dermal-epidermal junction. In EBS, blistering occurs within basal keratinocytes. The severity of blistering ranges from limited to hands and feet to widespread involvement. Additional features can include hyperkeratosis of the palms and soles (keratoderma), nail dystrophy, milia, and hyper- and/or hypopigmentation. Rare EBS subtypes have been associated with additional clinical features including pyloric atresia, muscular dystrophy, cardiomyopathy, and/or nephropathy.|GeneReviews|N|
C3809482|Myopia, or nearsightedness, is a refractive error of the eye. Light rays from a distant object are focused in front of the retina and those from a near object are focused in the retina; therefore distant objects are blurry and near objects are clear (summary by Kaiser et al., 2004).
For a discussion of genetic heterogeneity of myopia, see 160700.|OMIM|N|
C3809483|Specific language impairment-5 (SLI5) is characterized by a delay in early speech acquisition and is usually associated with cerebral white matter abnormalities on brain MRI. Some individuals may show disorders in communication, consistent with autism spectrum disorder, or global developmental delay, although others ultimately show normal cognitive function. Penetrance is incomplete and expressivity is variable. This type of disorder is observed most commonly among individuals of East Asian descent (summary by Wiszniewski et al., 2013).
For a phenotypic description and a discussion of genetic heterogeneity of specific language impairment, see SLI1 (602081).|OMIM|N|
C3809490|The chromosome 3q13.31 deletion syndrome is characterized by marked developmental delay, characteristic facies with a short philtrum and protruding lips, and abnormal male genitalia (Molin et al., 2012).
Patients with Primrose syndrome (PRIMS; 259050) exhibit features overlapping those of the chromosome 3q13.31 deletion syndrome but also have ossified ear cartilage, severe muscle wasting, and abnormalities of glucose metabolism resulting in insulin-resistant diabetes mellitus in adulthood. Primrose syndrome is caused by mutation in the ZBTB20 gene (606025) on chromosome 3q13.|OMIM|N|
C3809513|Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the PRKG1 gene.|MONDO|N|
C3809522|A rare, genetic, parenchymal hepatic disease characterized by acute liver failure, that occurs in the first year of life, which manifests with failure to thrive, hypotonia, moderate global developmental delay, seizures, abnormal liver function tests, microcytic anemia and elevated serum lactate. Other associated features include hepatosteatosis and fibrosis, abnormal brain morphology, and renal tubulopathy. Minor illness exacerbates deterioration of liver failure.|ORDO|N|
C3809523|Age-related macular degeneration (ARMD) is a multifactorial disorder of the central retina that is the most prevalent cause of progressive vision loss in the developed world. As in other chronic age-related diseases, most cases result from interplay between multiple environmental and genetic factors, with a resultant spectrum of phenotypes. In rare cases, ARMD may manifest early, but there is an exponential rise in prevalence after the age of 60 years (summary by Pras et al., 2015).
For a phenotypic description and a discussion of genetic heterogeneity of age-related macular degeneration (ARMD), see 603075.|OMIM|N|
C3809526|Combined oxidative phosphorylation deficiency-17 (COXPD17) is an autosomal recessive disorder of mitochondrial dysfunction characterized by onset of severe hypertrophic cardiomyopathy in the first year of life. Other features include hypotonia, poor growth, lactic acidosis, and failure to thrive. The disorder may be fatal in early childhood (summary by Haack et al., 2013).|OMIM|N|
C3809536|Catecholaminergic polymorphic ventricular tachycardia (CPVT) is characterized by episodic syncope occurring during exercise or acute emotion. The underlying cause of these episodes is the onset of fast ventricular tachycardia (bidirectional or polymorphic). Spontaneous recovery may occur when these arrhythmias self-terminate. In other instances, ventricular tachycardia may degenerate into ventricular fibrillation and cause sudden death if cardiopulmonary resuscitation is not readily available. The mean onset of symptoms (usually a syncopal episode) is between age seven and 12 years; onset as late as the fourth decade of life has been reported. If untreated, CPVT is highly lethal, as approximately 30% of affected individuals experience at least one cardiac arrest and up to 80% have one or more syncopal spells. Sudden death may be the first manifestation of the disease.|GeneReviews|N|
C3809543|Primary ciliary dyskinesia-22 (CILD22) is an autosomal recessive disorder caused by defective structure and function of cilia or flagella. Ciliary dysfunction causes respiratory distress in term neonates, impaired mucociliary clearance, chronic cough, sinusitis, bronchiectasis, and male infertility. Defective motility of embryonic nodal cilia leads to situs abnormalities in about 50% of patients. CILD22 is characterized by defects of the inner and outer dynein arms (summary by Zariwala et al., 2013).
For a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400).|OMIM|N|
C3809548|Primary ciliary dyskinesia-23 is an autosomal recessive disorder resulting from defective ciliary motility. Affected individuals have respiratory distress and recurrent upper and lower airway infections, and they often develop bronchiectasis. About 50% of patients have situs inversus or laterality defects. Ultrastructural analysis of respiratory cilia shows defects in the outer dynein arm (summary by Hjeij et al., 2013).
For a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see 244400.|OMIM|N|
C3809553|Mitochondrial complex III deficiency nuclear type 6 (MC3DN6) is an autosomal recessive disorder caused by mitochondrial dysfunction. It is characterized by onset in early childhood of episodic acute lactic acidosis, ketoacidosis, and insulin-responsive hyperglycemia, usually associated with infection. Laboratory studies show decreased activity of mitochondrial complex III. Psychomotor development is normal (summary by Gaignard et al., 2013).
For a discussion of genetic heterogeneity of mitochondrial complex III deficiency, see MC3DN1 (124000).|OMIM|N|
C3809567|Microcornea-myopic chorioretinal atrophy-telecanthus syndrome is rare, genetic, developmental defect of the eye disease characterized by childhood onset of mild to severe myopia with microcornea and chorioretinal atrophy, typically associated with telecanthus and posteriorly rotated ears. Other variable features include early-onset cataracts, ectopia lentis, ecotpia pupilae and retinal detachment.|ORDO|N|
C3809583|Combined immunodeficiency due to MALT1 deficiency is a rare, genetic form of primary immunodeficiency characterized by growth retardation, early recurrent pulmonary infections leading to bronchiectasis, inflammatory gastrointestinal disease, and other symptoms, such as rash, dermatitis, skin infections.|ORDO|N|
C3809592|FBXL4-related encephalomyopathic mitochondrial DNA (mtDNA) depletion syndrome is a multi-system disorder characterized primarily by congenital or early-onset lactic acidosis and growth failure, feeding difficulty, hypotonia, and developmental delay. Other neurologic manifestations can include seizures, movement disorders, ataxia, autonomic dysfunction, and stroke-like episodes. All affected individuals alive at the time they were reported (median age: 3.5 years) demonstrated significant developmental delay. Other findings can involve the heart (hypertrophic cardiomyopathy, congenital heart malformations, arrhythmias), liver (mildly elevated transaminases), eyes (cataract, strabismus, nystagmus, optic atrophy), hearing (sensorineural hearing loss), and bone marrow (neutropenia, lymphopenia). Survival varies; the median age of reported deaths was two years (range 2 days – 75 months), although surviving individuals as old as 36 years have been reported. To date FBXL4-related mtDNA depletion syndrome has been reported in 50 individuals.|GeneReviews|N|
C3809606|Developmental and epileptic encephalopathy-17 (DEE17) is a severe neurologic disorder characterized by onset of intractable seizures in the first weeks or months of life. EEG often shows a burst-suppression pattern consistent with a clinical diagnosis of Ohtahara syndrome. Affected infants have very poor psychomotor development and may have brain abnormalities, such as cerebral atrophy or thin corpus callosum. Some patients may show involuntary movements (summary by Nakamura et al., 2013).
For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350.|OMIM|N|
C3809609|A rare, genetic, neurologic disease characterized by primary hyperaldosteronism presenting with early-onset, severe hypertension, hypokalemia and neurological manifestations (including seizures, severe hypotonia, spasticity, cerebral palsy and profound developmental delay/intellectual disability).|ORDO|N|
C3809624|Developmental and epileptic encephalopathy-18 (DEE18) is a severe autosomal recessive neurologic disorder characterized by lack of psychomotor development apparent from birth, dysmorphic facial features, and early onset of refractory seizures. Brain imaging shows a thick corpus callosum and persistent cavum septum pellucidum on brain imaging (summary by Basel-Vanagaite et al., 2013).
For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350.|OMIM|N|
C3809634|Primary ciliary dyskinesia-24 is an autosomal recessive disorder resulting from defects of motile cilia. It is characterized clinically by sinopulmonary infection and subfertility; situs inversus is not observed. Ultrastructural examination of mutant cilia shows defects of the central microtubule complex and radial spokes (summary by Kott et al., 2013).
For a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see 244400.|OMIM|N|
C3809641|Primary ciliary dyskinesia-25 is an autosomal recessive disorder caused by defective ciliary movement. Affected individuals have recurrent upper and lower airway disease, bronchiectasis, and decreased fertility. About half of patients show laterality defects, including situs inversus totalis. Respiratory cilia from patients show defects in the inner and outer dynein arms (summary by Tarkar et al., 2013).
For a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see 244400.|OMIM|N|
C3809645|Primary familial brain calcification (PFBC) is a neurodegenerative disorder with characteristic calcium deposits in the basal ganglia and other brain areas visualized on neuroimaging. Most affected individuals are in good health during childhood and young adulthood and typically present in the fourth to fifth decade with a gradually progressive movement disorder and neuropsychiatric symptoms. The movement disorder first manifests as clumsiness, fatigability, unsteady gait, slow or slurred speech, dysphagia, involuntary movements, or muscle cramping. Neuropsychiatric symptoms, often the first or most prominent manifestations, range from mild difficulty with concentration and memory to changes in personality and/or behavior, to psychosis and dementia. Seizures of various types occur frequently, some individuals experience chronic headache and vertigo; urinary urgency or incontinence may be present.|GeneReviews|N|
C3809651|Infantile liver failure syndrome-2 (ILFS2) is an autosomal recessive disorder characterized by recurrent episodes of acute liver failure during intercurrent febrile illness. Patients first present in infancy or early childhood, and there is complete recovery between episodes with conservative treatment (summary by Haack et al., 2015).
For a discussion of genetic heterogeneity of infantile liver failure syndrome, see ILFS1 (615438).|OMIM|N|
C3809653|Researchers have described two major types of age-related macular degeneration, known as the dry form and the wet form. The dry form is much more common, accounting for 85 to 90 percent of all cases of age-related macular degeneration. It is characterized by a buildup of yellowish deposits called drusen beneath the retina and vision loss that worsens slowly over time. The most advanced stage of dry age-related macular degeneration is known as geographic atrophy, in which areas of the macula waste away (atrophy), resulting in severe vision loss. Dry age-related macular degeneration typically affects vision in both eyes, although vision loss often occurs in one eye before the other.\n\nIn 10 to 15 percent of affected individuals, the dry form progresses to the wet form of age-related macular degeneration. The wet form is characterized by the growth of abnormal, fragile blood vessels underneath the macula. These vessels leak blood and fluid, which damages the macula and makes central vision appear blurry and distorted. The wet form of age-related macular degeneration is associated with severe vision loss that can worsen rapidly.\n\nAge-related macular degeneration mainly affects central vision, which is needed for detailed tasks such as reading, driving, and recognizing faces. The vision loss in this condition results from a gradual deterioration of light-sensing cells in the tissue at the back of the eye that detects light and color (the retina). Specifically, age-related macular degeneration affects a small area near the center of the retina, called the macula, which is responsible for central vision. Side (peripheral) vision and night vision are generally not affected, but slow adjustment of vision to darkness (dark adaptation) and reduced dim light (scotopic) vision often occur in the early stages of the disease.\n\nAge-related macular degeneration is an eye disease that is a leading cause of vision loss in older people in developed countries. Subtle abnormalities indicating changes in vision may occur in a person's forties or fifties. Distorted vision and vision loss usually become noticeable in a person's sixties or seventies and tend to worsen over time.|MedlinePlus Genetics|N|
C3809655|A rare subtype of axonal hereditary motor and sensory neuropathy characterised by early-onset axial hypotonia, generalised muscle weakness, absent deep tendon reflexes and decreased muscle mass. Electromyography reveals decreased motor nerve conduction velocities with markedly reduced sensory and motor amplitudes. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the TRIM2 gene on chromosome 4q.|SNOMEDCT_US|N|
C3809665|Spastic paraplegia-79B (SPG79B) is an autosomal recessive progressive neurologic disorder characterized by onset of spastic paraplegia and optic atrophy in the first decade of life. Additional features are variable, but may include peripheral neuropathy, cerebellar ataxia, and cognitive impairment (summary by Rydning et al., 2017).
For a discussion of genetic heterogeneity of autosomal recessive spastic paraplegia, see SPG5A (270800).|OMIM|N|
C3809672|A rare, genetic, syndromic intellectual disability disorder characterized by variable degrees of intellectual disability, behavioral problems (including attention deficit and hyperactivity disorder, autism spectrum disorder, and aggressiveness), an altered sleeping pattern, and delayed speech and language development associated with disruption of ankyrin-3 (<i>ANK3</i> gene). Additional features observed may include muscular hypotonia and spasticity. Epilepsy, chronic hunger, and dysmorphic facial features have been reported.|ORDO|N|
C3809684|Primary ciliary dyskinesia-26 is an autosomal recessive disorder caused by defective ciliary movement. Affected individuals have neonatal respiratory distress, recurrent upper and lower airway disease, and bronchiectasis. About half of patients show laterality defects, including situs inversus totalis. Respiratory cilia from patients show defects in the inner and outer dynein arms (summary by Austin-Tse et al., 2013).
For a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see 244400.|OMIM|N|
C3809686|A rare, genetic, neurodevelopmental disorder characterized by global developmental delay, borderline to severe intellectual disability, feeding difficulties, behavioral anomalies, vision anomalies and mild facial dysmorphism. Other associated features may include microcephaly, short stature, urogenital or palatal anomalies (e.g. cleft palate), minor cardiac defects, recurrent infections or hearing loss.|ORDO|N|
C3809691|Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013).
There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, 218330).
For a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 (208500).|OMIM|N|
C3809701|Primary ciliary dyskinesia-27 is an autosomal recessive disorder caused by defective ciliary movement. Affected individuals have neonatal respiratory distress, recurrent upper and lower airway disease, and bronchiectasis. Respiratory cilia from patients show defects in the inner dynein arms and nexin links. Situs inversus has not been reported in these patients (summary by Austin-Tse et al., 2013).
For a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see 244400.|OMIM|N|
C3809706|Primary ciliary dyskinesia-28 (CILD28) is an autosomal recessive disorder caused by defective ciliary movement. Affected individuals have recurrent upper and lower airway disease, bronchiectasis, and decreased fertility. About half of patients show laterality defects, including situs inversus. Respiratory cilia from patients show defects in both the inner and outer dynein arms (summary by Knowles et al., 2013).
For a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400).|OMIM|N|
C3809710|Hereditary hemorrhagic telangiectasia (HHT) is characterized by the presence of multiple arteriovenous malformations (AVMs) that lack intervening capillaries and result in direct connections between arteries and veins. The most common clinical manifestation is spontaneous and recurrent nosebleeds (epistaxis) beginning on average at age 12 years. Telangiectases (small AVMs) are characteristically found on the lips, tongue, buccal and gastrointestinal (GI) mucosa, face, and fingers. The appearance of telangiectases is generally later than epistaxis but may be during childhood. Large AVMs occur most often in the lungs, liver, or brain; complications from bleeding or shunting may be sudden and catastrophic. A minority of individuals with HHT have GI bleeding, which is rarely seen before age 50 years.|GeneReviews|N|
C3809719|A rare genetic epidermal disorder with characteristics of congenital erythroderma with severe psoriasiform dermatitis, ichthyosis, severe palmoplantar keratoderma, yellow keratosis on the hands and feet, elevated immunoglobulin E, multiple food allergies, and metabolic wasting. Other variable features may include hypotrichosis, nail dystrophy, recurrent infections, mild global developmental delay, eosinophilia, nystagmus, growth impairment and cardiac defects.|SNOMEDCT_US|N|
C3809753|Developmental delay with autism spectrum disorder and gait instability is a rare, genetic, neurological disorder characterized by infant hypotonia and feeding difficulties, global development delay, mild to moderated intellectual disability, delayed independent ambulation, broad-based gait with arms upheld and flexed at the elbow with brisk walking or running, and limited language skills. Behavior patterns are highly variable and range from sociable and affectionate to autistic behavior.|ORDO|N|
C3809768|Idiopathic CD4 lymphopenia (ICL) is a rare and heterogeneous syndrome defined by a reproducible reduction in the CD4 T-lymphocyte count (less than 300 cells per microliter or less than 20% of total T cells) in the absence of HIV infection or other known causes of immunodeficiency. ICL predisposes to infections and malignancy (summary by Gorska and Alam, 2012).|OMIM|N|
C3809776|Repeated episodes of a localized, painful cutaneous eruption related to reactivation of varicella zoster virus (VZV) and characterized by a characteristic rash in one or two adjacent dermatomes.|HPO|N|
C3809781|Cole disease (COLED) is a rare autosomal dominant disorder characterized by congenital or early-onset punctate keratoderma associated with irregularly shaped hypopigmented macules, which are typically found over the arms and legs but not the trunk or acral regions. Skin biopsies of palmoplantar lesions show nonspecific changes including hyperorthokeratosis, hypergranulosis, and acanthosis. Hypopigmented areas of skin, however, reveal a reduction in melanin content in keratinocytes but not in melanocytes, as well as hyperkeratosis and a normal number of melanocytes. Ultrastructurally, melanocytes show a disproportionately large number of melanosomes in the cytoplasm and dendrites, whereas keratinocytes show a paucity of these organelles, suggestive of impaired melanosome transfer (summary by Eytan et al., 2013). Some patients also exhibit calcinosis cutis or early-onset calcific tendinopathy (Eytan et al., 2013).|OMIM|N|
C3809798|Fuchs endothelial corneal dystrophy (FECD) is the most common genetic disorder of the corneal endothelium. Late-onset FECD is marked by thickening of Descemets membrane and excrescences, called guttae, that typically appear in the fourth or fifth decade. Disease progression results in decreased visual acuity as a result of increasing corneal edema, and end-stage disease is marked by painful epithelial bullae (summary by Riazuddin et al., 2013).
For a discussion of genetic heterogeneity of FECD, see FECD1 (136800).|OMIM|N|
C3809803|Syndromic microphthalmia-12 is a rare disease characterized by bilateral small eyeballs (microphthalmia), lungs that are too small (pulmonary hypoplasia), and a defect or hole in the diaphragm that allows the abdominal contents to move into the chest cavity (diaphragmatic hernia). Other symptoms may include: Severe global developmental delay with progressive motor impairment due to spasticity and/or uncontrolled repetitive muscular contractions (dystonia), with or without abnormal quick movements that resemble dancing (chorea), Defects of the cerebellum (Chiari type I malformation) Accumulation of cerebrospinal fluid inside the brain (hydrocephaly), Severe feeding difficulties, Mild facial dysmorphism with broad nasal root and tip, and a very small chin (micrognathia), Severe language delay, Wheelchair-bound. Syndromic microphthalmia-12 is caused by mutations in the RARB gene. There is no specific treatment for this syndrome.|MONDO|N|
C3809811|DNAJC6 Parkinson disease is a complex early-onset neurologic disorder whose core features are typical parkinsonian symptoms including bradykinesia, resting tremor, rigidity, and postural instability. The majority of individuals have juvenile onset and develop symptoms before age 21 years. Developmental delay, intellectual disability, seizures, other movement disorders (e.g., dystonia, spasticity, myoclonus), and neuropsychiatric features occur in the majority of individuals with juvenile onset and often precede parkinsonism. The onset of parkinsonian features usually occurs toward the end of the first or beginning of the second decade and the disease course is rapidly progressive with loss of ambulation in mid-adolescence in the majority of individuals. Additional features include gastrointestinal manifestations and bulbar dysfunction. A minority of individuals with DNAJC6 Parkinson disease develop early-onset parkinsonism with symptom onset in the third to fourth decade and absence of additional neurologic features.|GeneReviews|N|
C3809819|Premature fusion of the various sutures in the human neurocranium (skull vault and base) is defined as craniosynostosis (CRS). Clinical consequences include abnormal head shape and increased intracranial pressure, which may result in neurologic symptoms, developmental delay, and hearing or vision problems. Approximately 80% of cases are classified as nonsyndromic craniosynostosis and present as isolated suture fusion with no other associated anomalies. Sagittal suture fusion is the most common form of isolated craniosynostosis, accounting for 40 to 58% of all isolated cases (summary by Yagnik et al., 2012).
For a discussion of genetic heterogeneity of craniosynostosis, see CRS1 (123100).|OMIM|N|
C3809824|Parkinson disease-20 is an autosomal recessive neurodegenerative disorder characterized by young adult-onset of parkinsonism. Additional features may include seizures, cognitive decline, abnormal eye movements, and dystonia (summary by Krebs et al., 2013 and Quadri et al., 2013).
For a phenotypic description and a discussion of genetic heterogeneity of Parkinson disease, see PD (168600).|OMIM|N|
C3809827|An abnormality in which the eyes are held permanently wide open.|HPO|N|
C3809845|The musculocontractural type of Ehlers-Danlos syndrome (EDSMC2) is characterized by progressive multisystem fragility-related manifestations, including joint dislocations and deformities; skin hyperextensibility, bruisability, and fragility, with recurrent large subcutaneous hematomas; cardiac valvular, respiratory, gastrointestinal, and ophthalmologic complications; and myopathy, featuring muscle hypoplasia, muscle weakness, and an abnormal muscle fiber pattern in histology in adulthood, resulting in gross motor developmental delay (summary by Muller et al., 2013).
For a discussion of genetic heterogeneity of the musculocontractural type of Ehlers-Danlos syndrome, see EDSMC1 (601776).|OMIM|N|
C3809853|Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by severe intellectual disability with limited or absent speech and language, short stature, acquired microcephaly, kyphoscoliosis or scoliosis, and behavioral disturbances that include hyperactivity, stereotypy and aggressiveness. Facial dysmorphism, that typically includes sloping forehead, mild synophrys, deep-set eyes, strabismus, anteverted large ears, prominent nose and dental malposition, is also characteristic.|ORDO|N|
C3809860|A developmental anomaly characterized by undergrowth of the corpus cavernosum.|HPO|N|
C3809872|Any periventricular nodular heterotopia in which the cause of the disease is a mutation in the ERMARD gene.|MONDO|N|
C3809874|An inherited condition caused by mutation(s) in the PAX5 gene, encoding paired box protein Pax-5. The condition is characterized by an increased risk of developing B-cell acute lymphoblastic leukemia.|NCI|N|
C3809875|Van Maldergem syndrome is an autosomal recessive disorder characterized by intellectual disability, typical craniofacial features, auditory malformations resulting in hearing loss, and skeletal and limb malformations. Some patients have renal hypoplasia. Brain MRI typically shows periventricular nodular heterotopia (summary by Cappello et al., 2013).
For a discussion of genetic heterogeneity of Van Maldergem syndrome, see 601390.|OMIM|N|
C3809877|SHFYNG syndrome is an autosomal dominant multisystem disorder characterized by delayed psychomotor development, impaired intellectual development, hypotonia, and behavioral abnormalities. Additional features include contractures, feeding difficulties, and variable dysmorphic facial features. The severity of the disorder is highly variable: some patients may die in utero with fetal akinesia, whereas others can live with moderate disability. Some patients may have central endocrine abnormalities, such as growth hormone deficiency or hypothyroidism. Individuals are affected only if the mutation occurs on the paternal allele, since MAGEL2 is a maternally imprinted gene. Some of the features overlap with those observed in Prader-Will syndrome (PWS; 176270) (summary by Fountain et al., 2017; Jobling et al., 2018).|OMIM|N|
C3809882|Hereditary sensory and autonomic neuropathy type VII (HSAN7) is characterized by congenital absence of pain sensation resulting in recurrent injuries and self-inflicted wounds. Severe pruritis, intestinal dysmotility, and hyperhydrosis may be present (Woods et al., 2015; Salvatierra et al., 2018).
For a discussion of genetic heterogeneity of hereditary sensory and autonomic neuropathy, see HSAN1 (162400).|OMIM|N|
C3809888|Diamond-Blackfan anemia (DBA) is characterized by a profound normochromic and usually macrocytic anemia with normal leukocytes and platelets, congenital malformations in up to 50%, and growth deficiency in 30% of affected individuals. The hematologic complications occur in 90% of affected individuals during the first year of life. The phenotypic spectrum ranges from a mild form (e.g., mild anemia or no anemia with only subtle erythroid abnormalities, physical malformations without anemia) to a severe form of fetal anemia resulting in nonimmune hydrops fetalis. DBA is associated with an increased risk for acute myelogenous leukemia (AML), myelodysplastic syndrome (MDS), and solid tumors including osteogenic sarcoma.|GeneReviews|N|
C3809893|Familial episodic pain syndrome-2 is an autosomal dominant neurologic disorder characterized by adult-onset of paroxysmal pain mainly affecting the distal lower extremities (summary by Faber et al., 2012).
For a discussion of genetic heterogeneity of familial episodic pain syndrome, see 615040.|OMIM|N|
C3809899|Familial episodic pain syndrome-3 (FEPS3) is an autosomal dominant disorder characterized by early childhood onset of intense episodic pain mainly affecting the distal lower extremities, but sometimes affecting the upper extremities as well. The pain comes in cycles lasting several days, is exacerbated by fatigue, may be accompanied by sweating, and can be relieved by antiinflammatory medication. Severe episodic pain tends to diminish with age (summary by Zhang et al., 2013).
For a discussion of the genetic heterogeneity of familial episodic pain syndrome, see FEPS1 (615040).|OMIM|N|
C3809910|Arthrogryposis, impaired intellectual development, and seizures (AMRS) is an autosomal recessive disorder characterized by skeletal abnormalities, including arthrogryposis, short limbs, and vertebral malformations, impaired intellectual development, and seizures consistent with early-onset epileptic encephalopathy in some patients. Other features may include cleft palate, micrognathia, posterior embryotoxon, talipes valgus, rocker-bottom feet, and dysmorphic facies (Edmondson et al., 2017; Marini et al., 2017).|OMIM|N|
C3809918|Fibroadenoma represents a benign breast disease characterized by lobuloalveolar growth with abnormally high proliferation of the epithelium. Patients with more than 3 fibroadenomas in 1 breast are considered to have multiple fibroadenomas (summary by Bogorad et al., 2008).|OMIM|N|
C3809925|Melioidosis is infection caused by the gram-negative, flagellated soil saprophyte Burkholderia pseudomallei, which is endemic in parts of southeast Asia and northern Australia. Sepsis is a common clinical presentation of disease, and lung is the organ most commonly involved. In northern Thailand, where B. pseudomallei is the most common bloodstream isolate, the overall melioidosis mortality rate exceeds 40%, and pneumonia confers more than 2-fold increased risk of death (summary by West et al., 2013).|OMIM|N|
C3809928|Autoimmune lymphoproliferative syndrome type III is an autosomal recessive disorder of immune dysregulation. The phenotype is variable, but most patients have significant lymphadenopathy associated with variable autoimmune manifestations. Some patients may have recurrent infections. Lymphocyte accumulation results from a combination of impaired apoptosis and excessive proliferation (summary by Oliveira, 2013).
For a general description and a discussion of genetic heterogeneity of ALPS, see 601859.|OMIM|N|
C3809954|Retinitis pigmentosa (RP) is the name given to a group of hereditary retinal conditions in which degeneration of rod photoreceptors, responsible for vision under dark conditions, is more pronounced than that of cone photoreceptors, which mediate daylight vision. Individuals with RP typically experience night blindness at first, followed by progressive and unstoppable visual impairment in daytime conditions  as well. Their visual fields become reduced gradually and sight is lost from the midperiphery to the periphery, then from the midperiphery to the center, resulting eventually in complete or near-complete blindness if left untreated. Most patients show intraretinal pigment in a bone-spicule configuration around the fundus periphery as well as retinal arteriolar attenuation, elevated final dark-adapted thresholds, and reduced and delayed electroretinograms. Autosomal recessive RP is the most common form of hereditary retinal degeneration in humans (summary by Nishiguchi et al., 2013).
For a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000.|OMIM|N|
C3809965|Nephrotic syndrome type 9 (NPHS9) is an autosomal recessive chronic kidney disorder characterized by significant proteinuria resulting in hypoalbuminemia and edema. Onset is in the first or second decade of life. The disorder is steroid treatment-resistant and usually progresses to end-stage renal disease requiring transplantation. Renal biopsy shows focal segmental glomerulosclerosis (FSGS) or collapsing FSGS (summary by Ashraf et al., 2013).
For a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome and FSGS, see NPHS1 (256300).|OMIM|N|
C3809971|Asparagine synthetase deficiency (ASD) mainly presents as a triad of congenital microcephaly, severe developmental delay, and axial hypotonia followed by spastic quadriplegia. Low cerebrospinal fluid (CSF) asparagine level can help the clinician in differentiating this disorder from others. In most cases age of onset of apnea, excessive irritability, and seizures is soon after birth. Affected individuals typically do not acquire any developmental milestones. Spastic quadriplegia can lead to severe contractures of the limbs and neurogenic scoliosis. Feeding difficulties (gastroesophageal reflux disease, frequent vomiting, swallowing dysfunction, and gastroesophageal incoordination) are a significant problem in most affected individuals. A majority have cortical blindness. MRI findings are nonspecific but may include generalized atrophy and simplified gyral pattern.|GeneReviews|N|
C3809991|Common variable immunodeficiency-10 (CVID10) is an autosomal dominant primary immunodeficiency characterized by childhood-onset of recurrent infections, hypogammaglobulinemia, and decreased numbers of memory and marginal zone B cells. Some patients may develop autoimmune features and have circulating autoantibodies. An unusual feature is central adrenal insufficiency (summary by Chen et al., 2013).
For a general description and a discussion of genetic heterogeneity of common variable immunodeficiency, see CVID1 (607594).|OMIM|N|
C3810001|Combined oxidative phosphorylation deficiency-18 (COXPD18) is an autosomal recessive disorder of mitochondrial function characterized by intrauterine growth retardation, hypotonia, visual impairment, speech delay, and lactic acidosis associated with decreased mitochondrial respiratory chain activity. Affected patients may also show hematologic abnormalities, mainly macrocytic anemia (summary by Hildick-Smith et al., 2013).
For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060).|OMIM|N|
C3810012|Loeys-Dietz syndrome (LDS) is characterized by vascular findings (cerebral, thoracic, and abdominal arterial aneurysms and/or dissections), skeletal manifestations (pectus excavatum or pectus carinatum, scoliosis, joint laxity, arachnodactyly, talipes equinovarus, cervical spine malformation and/or instability), craniofacial features (widely spaced eyes, strabismus, bifid uvula / cleft palate, and craniosynostosis that can involve any sutures), and cutaneous findings (velvety and translucent skin, easy bruising, and dystrophic scars). Individuals with LDS are predisposed to widespread and aggressive arterial aneurysms and pregnancy-related complications including uterine rupture and death. Individuals with LDS can show a strong predisposition for allergic/inflammatory disease including asthma, eczema, and reactions to food or environmental allergens. There is also an increased incidence of gastrointestinal inflammation including eosinophilic esophagitis and gastritis or inflammatory bowel disease. Wide variation in the distribution and severity of clinical features can be seen in individuals with LDS, even among affected individuals within a family who have the same pathogenic variant.|GeneReviews|N|
C3810018|The presence of bilateral coxa valga.|HPO|N|
C3810023|Verheij syndrome is characterized by growth retardation, delayed psychomotor development, dysmorphic facial features, and skeletal, mainly vertebral, abnormalities. Additional variable features may include coloboma, renal defects, and cardiac defects (summary by Verheij et al., 2009 and Dauber et al., 2013).|OMIM|N|
C3810041|Any Alzheimer disease in which the cause of the disease is a mutation in the ADAM10 gene.|MONDO|N|
C3810042|Age-related macular degeneration is an eye disease that is a leading cause of vision loss in older people in developed countries. Subtle abnormalities indicating changes in vision may occur in a person's forties or fifties. Distorted vision and vision loss usually become noticeable in a person's sixties or seventies and tend to worsen over time.\n\nAge-related macular degeneration mainly affects central vision, which is needed for detailed tasks such as reading, driving, and recognizing faces. The vision loss in this condition results from a gradual deterioration of light-sensing cells in the tissue at the back of the eye that detects light and color (the retina). Specifically, age-related macular degeneration affects a small area near the center of the retina, called the macula, which is responsible for central vision. Side (peripheral) vision and night vision are generally not affected, but slow adjustment of vision to darkness (dark adaptation) and reduced dim light (scotopic) vision often occur in the early stages of the disease.\n\nIn 10 to 15 percent of affected individuals, the dry form progresses to the wet form of age-related macular degeneration. The wet form is characterized by the growth of abnormal, fragile blood vessels underneath the macula. These vessels leak blood and fluid, which damages the macula and makes central vision appear blurry and distorted. The wet form of age-related macular degeneration is associated with severe vision loss that can worsen rapidly.\n\nResearchers have described two major types of age-related macular degeneration, known as the dry form and the wet form. The dry form is much more common, accounting for 85 to 90 percent of all cases of age-related macular degeneration. It is characterized by a buildup of yellowish deposits called drusen beneath the retina and vision loss that worsens slowly over time. The most advanced stage of dry age-related macular degeneration is known as geographic atrophy, in which areas of the macula waste away (atrophy), resulting in severe vision loss. Dry age-related macular degeneration typically affects vision in both eyes, although vision loss often occurs in one eye before the other.|MedlinePlus Genetics|N|
C3810053|Immunodeficiency-16 is an autosomal recessive primary immunodeficiency associated with classic Kaposi sarcoma of childhood and poor T-cell recall immune responses due to complete functional OX40 deficiency (Byun et al., 2013).|OMIM|N|
C3810055|Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the LYRM4 gene.|MONDO|N|
C3810062|A form of congenital disorders of N-linked glycosylation with characteristics of developmental delay, intellectual disability, failure to thrive, hypotonia and seizures. Caused by mutations in the gene STT3A (11q23.3).|SNOMEDCT_US|N|
C3810072|Nagashima-type palmoplantar keratoderma is an autosomal recessive nonsyndromic diffuse palmoplantar keratosis, first described by Nagashima (1977) in the Japanese literature. It is characterized by well-demarcated diffuse erythematous hyperkeratosis that extends onto the dorsal surfaces of the palms and feet and the Achilles tendon area. Involvement of the elbows and knees has also been reported, and there is a high frequency of hyperhidrosis on the palms and soles. In contrast to other types of transgressive diffuse hyperkeratosis such as mal de Meleda (248300) and the Gamborg Nielsen type of recessive PPK (PPK Norrbotten; 244850), PPKN shows only mild hyperkeratosis that is nonprogressive after the second decade and does not involve flexion contractures or constricting bands (summary by Kubo et al., 2013).
For a discussion of phenotypic and genetic heterogeneity of palmoplantar keratoderma, see epidermolytic PPK (144200).|OMIM|N|
C3810080|A rare, genetic, syndromic intellectual disability disease characterized by progressive postnatal microcephaly and global developmental delay, as well as moderate to profound intellectual disability, difficulty or inability to walk, pyramidal signs (including spasticity, hyperreflexia and extensor plantar response) and thin corpus callosum revealed by brain imaging. Ophthalmologic signs (including nystagmus, strabismus and abnormal retinal pigmentation), foot deformity and genital anomalies may also be associated.|ORDO|N|
C3810090|A rare genetic haematologic disease characterised by decreased or undetectable serum L-ferritin with otherwise normal laboratory parameters. Clinical signs and symptoms include generalised seizures, atypical restless leg syndrome, mild neuropsychologic impairment and progressive hair loss. Asymptomatic cases have also been reported.|SNOMEDCT_US|N|
C3810100|Fanconi renotubular syndrome-3 (FRTS3) is an autosomal dominant disorder characterized by rickets, impaired growth, glucosuria, generalized aminoaciduria, phosphaturia, metabolic acidosis, and low molecular weight proteinuria (summary by Klootwijk et al., 2014).
For a general phenotypic description and a discussion of genetic heterogeneity of Fanconi renotubular syndrome, see FRTS1 (134600).|OMIM|N|
C3810107|Immunodeficiency-17 (IMD17) is an autosomal recessive primary immunodeficiency characterized by highly variable clinical severity. Some patients have onset of severe recurrent infections in early infancy that may be lethal, whereas others may be only mildly affected or essentially asymptomatic into young adulthood. More severely affected patients may have evidence of autoimmune disease or enteropathy. The immunologic pattern is similar among patients, showing partial T-cell lymphopenia, particularly of cytotoxic CD8 (see 186910)-positive cells, decreased amounts of the CD3 complex, and impaired proliferative responses to T-cell receptor (TCR)-dependent stimuli. B cells, natural killer (NK) cells, and immunoglobulins are usually normal. Although thymic output of functional naive T cells early in life is decreased, polyclonal expansion of functional memory T cells is substantial. The phenotype in some patients is reminiscent of severe combined immunodeficiency (SCID) (summary by Timon et al. (1993) and Recio et al. (2007)).|OMIM|N|
C3810127|Immunodeficiency-18 is an autosomal recessive primary immunodeficiency characterized by onset in infancy or early childhood of recurrent infections. The severity is variable, encompassing both a mild immunodeficiency and severe combined immunodeficiency (SCID), resulting in early death without bone marrow transplantation in some patients. Immunologic work-up of the IMD18 SCID patients shows a T cell-negative, B cell-positive, natural killer (NK) cell-positive phenotype, whereas T-cell development is not impaired in the mild form of IMD18 (summary by de Saint Basile et al., 2004).|OMIM|N|
C3810138|Arrhythmogenic right ventricular cardiomyopathy/dysplasia-13 (ARVD13) is characterized by progressive fibrofatty myocardial replacement, primarily of the right ventricle. The main clinical features are structural and functional abnormalities of the ventricles, electrocardiographic depolarization/repolarization changes, reentrant arrhythmias, and sudden death (summary by van Hengel et al., 2013).|OMIM|N|
C3810147|Immunodeficiency-19 (IMD19) is an autosomal recessive form of severe combined immunodeficiency (SCID) characterized by onset in early infancy of recurrent bacterial, viral, and fungal infections. Patients usually have chronic diarrhea, recurrent respiratory infections, and failure to thrive. Immunologic work-up shows a T cell-negative, B cell-positive, natural killer (NK) cell-positive phenotype. The disorder is lethal in early childhood without bone marrow transplantation (summary by Yu et al., 2011).|OMIM|N|
C3810156|Carcinomas of the biliary tract are aggressive malignancies, with 5-year survival of less than 10%. These carcinomas arise throughout the biliary tree and are anatomically classified as either intrahepatic or extrahepatic cholangiocarcinomas. Gallbladder carcinomas also arise from the biliary tree but have distinct natural histories compared to cholangiocarcinomas, suggesting different underlying tumor biology.
Cholangiocarcinoma incidence varies widely between geographic regions, reflecting the impact of different underlying etiologies. In endemic areas, liver fluke infections by O. viverrini and Clonorchis sinensis, both group I carcinogens, represent the major risk factor for cholangiocarcinomas. In nonendemic regions, other risk factors, including choledochal cysts (603003), hepatolithiasis, and primary sclerosing cholangitis (613806), are likely contributors (summary by Chan-on et al., 2013). Overall, the majority of patients lack such identifiable risk factors (summary by Jiao et al., 2013).|OMIM|N|
C3810160|Hereditary spastic paraplegia-72A (SPG72A) is a pure form of spastic paraplegia with onset of difficulty walking and stiff legs associated with hyperreflexia and extensor plantar responses in early childhood. The disorder is slowly progressive, and some patients develop the need for assistance in walking. Some patients may have pes cavus or sphincter disturbances. Cognition, speech, and ocular function are normal (summary by Esteves et al., 2014).
For a discussion of genetic heterogeneity of autosomal dominant spastic paraplegia, see SPG3A (182600).|OMIM|N|
C3810170|Autosomal dominant deafness-56 is a form of nonsyndromic sensorineural hearing loss. Hearing impairment shows postlingual onset and is progressive (summary by Zhao et al., 2013).|OMIM|N|
C3810175|Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013).
There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, 218330).
For a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 (208500).|OMIM|N|
C3810182|Abnormal appearance of the acetabulum characterized by spurs at the medial and lateral acetabular margin and in the center of the acetabulum, giving rise to shape resembling a three-pronged spear sadi to resemble a trident.|HPO|N|
C3810185|Congenital dyserythropoietic anemia type I (CDA I) is characterized by moderate-to-severe macrocytic anemia presenting occasionally in utero as severe anemia associated with hydrops fetalis but more commonly in neonates as hepatomegaly, early jaundice, and intrauterine growth restriction. Some individuals present in childhood or adulthood. After the neonatal period, most affected individuals have lifelong moderate anemia, usually accompanied by jaundice and splenomegaly. Secondary hemochromatosis develops with age as a result of increased iron absorption even in those who are not transfused. Distal limb anomalies occur in 4%-14% of affected individuals.|GeneReviews|N|
C3810194|Hereditary sensory neuropathy type IF is an autosomal dominant sensory neuropathy affecting the lower limbs. Distal sensory impairment becomes apparent during the second or third decade of life, resulting in painless ulceration of the feet with poor healing, which can progress to osteomyelitis, bone destruction, and amputation. There is no autonomic involvement, spasticity, or cognitive impairment (summary by Kornak et al., 2014).
For a discussion of genetic heterogeneity of HSN, see HSAN1A (162400).|OMIM|N|
C3810200|Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013).
There is phenotypic overlap with the cranioectodermal dysplasias (see CED1, 218330).
For a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 (208500).|OMIM|N|
C3810212|Classic Joubert syndrome (JS) is characterized by three primary findings: A distinctive cerebellar and brain stem malformation called the molar tooth sign (MTS). Hypotonia. Developmental delays. Often these findings are accompanied by episodic tachypnea or apnea and/or atypical eye movements. In general, the breathing abnormalities improve with age, truncal ataxia develops over time, and acquisition of gross motor milestones is delayed. Cognitive abilities are variable, ranging from severe intellectual disability to normal. Additional findings can include retinal dystrophy, renal disease, ocular colobomas, occipital encephalocele, hepatic fibrosis, polydactyly, oral hamartomas, and endocrine abnormalities. Both intra- and interfamilial variation are seen.|GeneReviews|N|
C3810214|Increased length of the superior cerebellar peduncle.|HPO|N|
C3810225|Autosomal recessive intellectual developmental disorder-41 (MRT41) is characterized by macrocephaly and global developmental delay. Some patients have seizures (Baple et al., 2014).|OMIM|N|
C3810265|RAB18 deficiency is the molecular deficit underlying both Warburg micro syndrome (characterized by eye, nervous system, and endocrine abnormalities) and Martsolf syndrome (characterized by similar – but milder – findings). To date Warburg micro syndrome comprises >96% of reported individuals with genetically defined RAB18 deficiency. The hallmark ophthalmologic findings are bilateral congenital cataracts, usually accompanied by microphthalmia, microcornea (diameter <10), and small atonic pupils. Poor vision despite early cataract surgery likely results from progressive optic atrophy and cortical visual impairment. Individuals with Warburg micro syndrome have severe to profound intellectual disability (ID); those with Martsolf syndrome have mild to moderate ID. Some individuals with RAB18 deficiency also have epilepsy. In Warburg micro syndrome, a progressive ascending spastic paraplegia typically begins with spastic diplegia and contractures during the first year, followed by upper-limb involvement leading to spastic quadriplegia after about age five years, often eventually causing breathing difficulties. In Martsolf syndrome infantile hypotonia is followed primarily by slowly progressive lower-limb spasticity. Hypogonadism – when present – manifests in both syndromes, in males as micropenis and/or cryptorchidism and in females as hypoplastic labia minora, clitoral hypoplasia, and small introitus.|GeneReviews|N|
C3810278|Classic Joubert syndrome (JS) is characterized by three primary findings: A distinctive cerebellar and brain stem malformation called the molar tooth sign (MTS). Hypotonia. Developmental delays. Often these findings are accompanied by episodic tachypnea or apnea and/or atypical eye movements. In general, the breathing abnormalities improve with age, truncal ataxia develops over time, and acquisition of gross motor milestones is delayed. Cognitive abilities are variable, ranging from severe intellectual disability to normal. Additional findings can include retinal dystrophy, renal disease, ocular colobomas, occipital encephalocele, hepatic fibrosis, polydactyly, oral hamartomas, and endocrine abnormalities. Both intra- and interfamilial variation are seen.|GeneReviews|N|
C3810282|PDE4D haploinsufficiency syndrome is a rare syndromic intellectual disability characterized by developmental delay, intellectual disability, low body mass index, long arms, fingers and toes, prominent nose and small chin.|ORDO|N|
C3810283|Schwannomatosis is characterized by a predisposition to develop multiple schwannomas and, less frequently, meningiomas. Individuals with schwannomatosis most commonly present between the second and fourth decade of life. The most common presenting feature is localized or diffuse pain or asymptomatic mass. Schwannomas most often affect peripheral nerves and spinal nerves. Meningiomas occur in about 5% of individuals with schwannomatosis and have only been reported in individuals with SMARCB1-related schwannomatosis. Malignancy remains a theoretic risk especially in individuals with a SMARCB1 pathogenic variant.|GeneReviews|N|
C3810285|Myopathy with extrapyramidal signs is an autosomal recessive disorder characterized by early childhood onset of proximal muscle weakness and learning disabilities. While the muscle weakness is static, most patients develop progressive extrapyramidal signs that may become disabling (summary by Logan et al., 2014). Brain MRI in 1 patient showed congenital malformations, including polymicrogyria and cerebellar dysplasia (Wilton et al., 2020).|OMIM|N|
C3810286|Dowling-Degos disease-3 (DDD3) is an autosomal dominant disorder characterized by progressive spotted and reticulate pigmentation of the flexures (summary by Li et al., 2006).
For a general phenotypic description and a discussion of genetic heterogeneity of Dowling-Degos disease, see DDD1 (179850).|OMIM|N|
C3810289|Spastic paraplegia-64 (SPG64) is a neurologic disorder characterized by childhood onset of progressive spastic paraplegia with impaired intellectual development, gait impairment, dysarthria, and white matter abnormalities on brain imaging. Some individuals show neurocognitive regression (Calame et al., 2022).
For a discussion of genetic heterogeneity of autosomal recessive SPG, see SPG5A (270800).|OMIM|N|
C3810294|Autosomal recessive spastic paraplegia-61 (SPG61) is a complicated, early-onset spastic paraplegia (summary by Chukhrova et al., 2019).|OMIM|N|
C3810295|An extremely rare and complex form of hereditary spastic paraplegia with characteristics of onset in infancy of spastic paraplegia (presenting with delayed walking and a scissors gait) associated with short stature and normal cognition. Periventricular deep white matter changes in the corpus callosum are noted on brain imaging. SPG63 is caused by a homozygous mutation in the AMPD2 gene (1p13.3) encoding AMP deaminase 2.|SNOMEDCT_US|N|
C3810313|Dowling-Degos disease-4 (DDD4) is an autosomal dominant genodermatosis characterized by progressive and disfiguring reticulate hyperpigmentation. Age of onset varies between the second and sixth decade of life (summary by Basmanav et al., 2014).
For a discussion of genetic heterogeneity of reticulate pigment disorders, see 179850.|OMIM|N|
C3810320|A temporal lobe epilepsy that has material basis in variation in the chromosome region 3q25-q26.|MONDO|N|
C3810324|A rare, genetic form of obesity characterized by morbid obesity, hypertension, type 2 diabetes mellitus and dyslipidemia leading to early coronary disease, myocardial infarction and congestive heart failure. Intellectual disability and decreased sperm counts or azoospermia have also been reported.|ORDO|N|
C3810325|Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP) is characterized by the skin findings of poikiloderma (typically beginning in the first six months and mainly localized to the face), hypohidrosis with heat intolerance, mild lymphedema of the extremities, chronic erythematous and scaly skin lesions on the extremities, sclerosis of the digits, and mild palmoplantar keratoderma. Scalp hair, eyelashes, and/or eyebrows are typically sparse. Muscle contractures are usually seen in childhood and can be present as early as age two years. The majority of affected individuals develop progressive weakness of the proximal and distal muscles of all four limbs. Some adults develop progressive interstitial pulmonary fibrosis, which can be life threatening within three to four years after respiratory symptoms appear. Other features are exocrine pancreatic insufficiency, liver impairment, hematologic abnormalities, relative short stature, and cataract.|GeneReviews|N|
C3810326|Autosomal recessive spinocerebellar ataxia-15 (SCAR15) is characterized by early-onset ataxia, cognitive impairment, dysarthria, and developmental delay. Variable features include seizures, nystagmus, and abnormal reflexes (Seidahmed et al., 2020).|OMIM|N|
C3810332|Auriculocondylar syndrome (ARCND) is a rare craniofacial disorder involving first and second pharyngeal arch derivatives and includes the key features of micrognathia, temporomandibular joint and condyle anomalies, microstomia, prominent cheeks, and question mark ears (QMEs). QMEs consist of a defect between the lobe and the upper two-thirds of the pinna, ranging from a mild indentation in the helix to a complete cleft between the lobe and helix (summary by Gordon et al., 2013).
For a general phenotypic description and discussion of genetic heterogeneity of auriculocondylar syndrome, see ARCND1 (602483).|OMIM|N|
C3810342|Immunodeficiency-20 is a rare autosomal recessive primary immunodeficiency characterized by functional deficiency of NK cells. Patient NK cells are defective in spontaneous cell cytotoxicity, but retain antibody-dependent cellular cytotoxicity. Patients typically present early in childhood with severe herpes viral infections, particularly Epstein Barr virus (EBV), and human papillomavirus (HPV) (summary by Grier et al., 2012).|OMIM|N|
C3810343|Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome is a rare, genetic, neural tube defect malformation syndrome characterized by sacral agenesis and abnormal vertebral body ossification with normal vertebral arches associated with notochord canal persistence on ultrasonography. Additional findings include bilateral clubfoot, oligohydramnios, single umbilical artery and, in some, increased nuchal translucency.|ORDO|N|
C3810349|Any Alzheimer disease in which the cause of the disease is a mutation in the PLD3 gene.|MONDO|N|
C3810350|Bone marrow failure syndrome-2 is an autosomal recessive disorder characterized by trilineage bone marrow failure, learning disabilities, and microcephaly. Cutaneous features and increased chromosome breakage are not features (Tummala et al., 2014).
For a discussion of genetic heterogeneity of BMFS, see BMFS1 (614675).|OMIM|N|
C3810354|Hyperphosphatasia with impaired intellectual development syndrome-4 (HPMRS4) is an autosomal recessive neurologic disorder characterized by severely delayed psychomotor development, impaired intellectual development, lack of speech acquisition, seizures, and dysmorphic facial features. Laboratory studies show increased serum alkaline phosphatase (summary by Howard et al., 2014). The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis.
For a discussion of genetic heterogeneity of HPMRS, see HPMRS1 (239300).
For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (610293).|OMIM|N|
C3810359|Renal hypodysplasia/aplasia belongs to a group of perinatally lethal renal diseases, including bilateral renal aplasia, unilateral renal agenesis with contralateral dysplasia (URA/RD), and severe obstructive uropathy. Renal aplasia falls at the most severe end of the spectrum of congenital anomalies of the kidney and urinary tract (CAKUT; 610805), and usually results in death in utero or in the perinatal period. Families have been documented in which bilateral renal agenesis or aplasia coexists with unilateral renal aplasia, renal dysplasia, or renal aplasia with renal dysplasia, suggesting that these conditions may belong to a pathogenic continuum or phenotypic spectrum (summary by Joss et al., 2003; Humbert et al., 2014).
For a discussion of genetic heterogeneity of renal hypodysplasia/aplasia, see RHDA1 (191830).|OMIM|N|
C3810363|Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) is an autosomal dominant disorder characterized by delayed development, moderately impaired intellectual development, and optic atrophy. Most patients also have evidence of cerebral visual impairment. Dysmorphic facial features are variable and nonspecific (summary by Bosch et al., 2014).|OMIM|N|
C3810365|Visual impairment due to central nervous system dysfunction.|NCI|N|
C3810367|Premature ovarian failure (POF), the endpoint of primary ovarian insufficiency, affects approximately 1% of women worldwide. Patients with POF present with at least a 6-month history of amenorrhea and elevated plasma levels of follicle-stimulating hormone (more than 40 mIU per milliliter). The disorder can result from premature depletion of the follicle pool, follicular atresia, follicle growth arrest, or ovarian dysgenesis (see 233300). In approximately 10 to 15% of patients with POF, a genetic cause has been determined (summary by Caburet et al., 2014).
For a general phenotypic description and a discussion of genetic heterogeneity of premature ovarian failure, see POF1 (311360).
Mutation in the STAG3 gene also causes male infertility; see spermatogenic failure-61 (SPGF61; 619672).|OMIM|N|
C3810376|Nonsyndromic primary ovarian insufficiency, which is characterized by amenorrhea with elevated gonadotropin levels, is observed in 1% of otherwise healthy women under the age of 40 years (summary by Wang et al., 2014).
For a general phenotypic description and discussion of the genetic heterogeneity of premature ovarian failure, see POF1 (311360).|OMIM|N|
C3810380|Any retinitis pigmentosa in which the cause of the disease is a mutation in the SLC7A14 gene.|MONDO|N|
C3810384|Nemaline myopathy-9 is an autosomal recessive muscle disorder characterized by onset of muscle weakness in early infancy. The phenotype is highly variable, ranging from death in infancy due to lack of antigravity movements, to slowly progressive distal muscle weakness with preserved ambulation later in childhood. Muscle biopsy shows typical rod-like structure in myofibers (summary by Gupta et al., 2013).
For a discussion of genetic heterogeneity of nemaline myopathy, see 161800.|OMIM|N|
C3810394|Pachyonychia congenita (PC) is characterized by hypertrophic nail dystrophy, painful palmoplantar keratoderma and blistering, oral leukokeratosis, pilosebaceous cysts (including steatocystoma and vellus hair cysts), palmoplantar hyperhydrosis, and follicular keratoses on the trunk and extremities.|GeneReviews|N|
C3810400|Developmental and epileptic encephalopathy-19 (DEE19) is a neurologic disorder characterized by the onset of various types of seizures in the first year of life, usually between 8 and 12 months of age. Seizures are often triggered by fever, and status epilepticus may occur. Affected individuals subsequently show mildly to moderately impaired intellectual development. Brain imaging is typically normal. The clinical phenotype is similar to that of Dravet syndrome (DRVT; 607208) (summary by Carvill et al., 2014).
For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350.|OMIM|N|
C3810401|Atrial standstill (AS) is a rare condition characterized by the absence of electrical and mechanical activity in the atria. On surface ECG, AS is distinguished by bradycardia, junctional (usually narrow complex) escape rhythm, and absence of the P wave. Nearly 50% of patients with AS experience syncope. AS can be persistent or transient, and diffuse or partial (summary by Fazelifar et al., 2005).|OMIM|N|
C3810403|Moyamoya disease-6 is a progressive vasculopathy characterized by occlusion of the terminal portion of the internal carotid arteries and its branches, and the formation of compensatory neovascularization and the moyamoya, or 'puff of smoke,' appearance of these vessels on angiogram. Affected individuals may present with ischemic strokes, intracerebral hemorrhage, or transient ischemic attacks. Patients with MYMY6 usually present early in life with achalasia. Hypertension and Raynaud phenomenon may be associated features (summary by Wallace et al., 2016; Herve et al., 2014).
For a general phenotypic description and a discussion of genetic heterogeneity of moyamoya disease, see MYMY1 (252350).|OMIM|N|
C3810404|Most children with carbonic anhydrase VA (CA-VA) deficiency reported to date have presented between day 2 of life and early childhood (up to age 20 months) with hyperammonemic encephalopathy (i.e., lethargy, feeding intolerance, weight loss, tachypnea, seizures, and coma). Given that fewer than 20 affected individuals have been reported to date, the ranges of initial presentations and long-term prognoses are not completely understood. As of 2021 the oldest known affected individual is an adolescent. Almost all affected individuals reported to date have shown normal psychomotor development and no further episodes of metabolic crisis; however, a few have shown mild learning difficulties or delayed motor skills.|GeneReviews|N|
C3810405|Complex cortical dysplasia with other brain malformations-14B (CDCBM14B) is an autosomal recessive disorder characterized by strikingly restricted polymicrogyria limited to the cortex surrounding the Sylvian fissure. Affected individuals have variable intellectual and language difficulty and seizures, but no motor disability (Bae et al., 2014).
For a discussion of genetic heterogeneity of CDCBM, see CDCBM1 (614039).|OMIM|N|
C3810406|Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency is a rare, syndromic intellectual disability characterized by intellectual disability of various severity, hypotonia, feeding difficulties, dysmorphic features, autism and behavioral issues. Growth retardation, congenital heart anomalies, gastrointestinal and genitourinary defects have been rarely associated.|ORDO|N|
C3810407|An autosomal dominant condition caused by mutation(s) in the TUBB2A gene, encoding tubulin beta-2A chain. It is characterized by cortical dysplasia and is associated with impaired intellectual development, hypotonia, global developmental delay, cortical dysplasia, and dysmorphic corpus callosum.|NCI|N|
C3810445|A form of sensorineural hearing impairment that affects primarily the lower frequencies.|HPO|N|
C3810451|A increased anteroposterior thickness of the cornea.|HPO|N|
C3810471|A pterygium (or pterygia) in the intercrural (groin) region.|HPO|N|
C3810484|Absence of the triceps muscle.|HPO|N|
C3810541|The situation that occurs when an individual must visit the Emergency Room or Department because of an adverse event.|NCI|N|
C3810813|A form of drug hypersensitivity syndrome caused by anti-convulsants.|NCI|N|
C3811055|The absence of rearrangement of at least one allele of the T-cell receptor gamma gene locus. This lack of rearrangement is characteristic of early thymocyte precursors and a lack of V(D)J recombination. This genetic profile is a predictor of induction therapy failure in children with T-cell acute lymphoblastic leukemia.|NCI|N|
C3811653|A malignant epithelial neoplasm arising from basal cells. (SEND)|NCI|N|
C3811814|An electrocardiographic finding of intermittent failure of atrial electrical impulse conduction to the ventricles, characterized by a progressively lengthening PR interval prior to the block of an atrial impulse. (CDISC)|NCI|N|
C3812172|A change in the valine at position 600 of the serine/threonine-protein kinase B-raf protein to another amino acid.|NCI|N|
C3812244|A clinical finding that refers to the spread of a neoplastic disease to anatomic sites or systems other than the original neoplastic site through the detection of low or subclinical levels of a neoplastic marker.|NCI|N|
C3812283|A ventricular tachyarrhythmia characterized by a high ventricular rate (180 and 250 beats per minute) with a regular rhythm. The electrocardiogram shows large oscillating sine wave-like complexes occurring as a result of QRS complexes and T waves being merged. The P wave is not visible.|NCI|N|
C3812410|Prior to the development of ROP in the premature infant, vascularization of the retina is incomplete or immature. In Stage 0, there is no clear demarcation line between vascularized and non-vascularized retina.|NCI|N|
C3812646|A skin hypersensitivity reaction due to exposure to a pharmacologic substance that is characterized by raised purpuric lesions, red macules, hemorrhagic blisters and ulcerations.|NCI|N|
C3812660|Extravasation of blood into the subcutaneous space.|NCI|N|
C3812874|A neoplastic clonal expansion of endometrial glands characterized by cytologic changes of the epithelium and the presence of an increased number of endometrial glands. The glands form crowded aggregates with tubular or branching patterns which are cytologically distinct from the background architectural and cytological pattern. It is associated with molecular changes seen in endometrioid endometrial carcinoma, including microsatellite instability, PAX2 inactivation, and PTEN, KRAS, and CTNNB1 gene mutations.|NCI|N|
C3812882|A response indicating that something happens or happened none of the time.|NCI|N|
C3812891|A response indicating that something happens or happened all of the time.|NCI|N|
C3812899|A breast carcinoma characterized by the formation of irregular, finger-like projections of fibrous stroma covered with neoplastic epithelial cells.|NCI|N|
C3813158|A benign neoplasm arising from the islet cells of the pancreas.|NCI|N|
C3813276|Labor in a woman who has had one or more previous cesarean births.|NCI|N|
C3813607|Effortless regurgitation of gastric contents that commonly occurs in infants, usually right after feeding or burping.|NCI|N|
C3814420|Birth at 39 weeks and 0 days through 40 weeks and 6 days.|NCI|N|
C3814530|A circumscribed, fluid-containing, epidermal elevation generally considered less than 10mm in diameter at the widest point.|HPO|N|
C3814534|A low grade osteosarcoma arising from the medullary portion of the bone. It affects the long bones and is characterized by the presence of fibroblastic stroma and osteoid production. Pain and swelling are the usual sign and symptom. The prognosis is more favorable than conventional osteosarcoma.|MONDO|N|
C3814825|Unexpected death of an infant less than one year of age, whose cause of death is not immediately obvious prior to investigation.|NCI|N|
C3814872|An electrocardiographic finding of a junctional rhythm with a heart rate which is abnormally elevated. (CDISC)|NCI|N|
C3814879|A phosphaturic mesenchymal tumor with benign histologic features. It may recur locally but does not metastasize. Complete excision is curative.|NCI|N|
C3815112|A longstanding lesion caused by death of tissue due to external pressure.|NCI|N|
C3815188|An electrocardiographic finding of a tachycardia which does not originate in the ventricles or His Purkinje system. There is an abnormally high heart rate and QRS complexes are typically narrow, but aberration or preexcitation may be present. (CDISC)|NCI|N|
C3815278|An electrocardiographic finding of two sinus beats followed by a premature ventricular complex for 3 or more consecutive cycles; a regularly irregular rhythm of normal and abnormal QRS complexes in a 2-1 ratio. (CDISC)|NCI|N|
C3815594|A status indication that a subject is already assigned to an arm of a clinical trial by chance.|NCI|N|
C3815882|A finding referring to a medical device that is no longer held or possessed; incapable of being recovered or regained.|NCI|N|
C3815900|A benign germ-cell neoplasm derived from pluripotent cells and consisting of components from one or more of the three germ-cell layers.|NCI|N|
C3816170|A malignant neoplasm composed of a mixed lymphocyte population.|NCI|N|
C3816482|A benign neoplasm of the thymus, originating from epithelial thymus cells.|NCI|N|
C3816727|A benign epithelial neoplasm with a uniform, monomorphic appearance that is dominated by basal cells. (SEND)|NCI|N|
C3816734|Absence of detectable signs or symptoms.|NCI|N|
C3825027|An anomaly of the musculoskeletal system, which consists of the bones of the skeleton, muscles, cartilage, tendons, ligaments, joints, and other connective tissue. The musculoskeletal system supports the weight of the body, maintains body position and produces movements of the body or of parts of the body.|HPO|N|
C3825673|An indication that an individual''s growth plates are fused and that bone growth has ceased.|NCI|N|
C3826890|An intraductal papillary-mucinous neoplasm of the pancreas that arises in one of the branches of the main pancreatic duct. It usually has an indolent behavior.|NCI|N|
C3826968|A term that refers to a pulmonary nodule in which part of the ground-glass opacity completely obscures the parenchyma on CT scan examination.|NCI|N|
C3826972|A morphologic finding indicating the presence of single cells or small groups of cells with prominent eosinophilic cytoplasmic granules in a tissue sample.|NCI|N|
C3826981|An intraductal papillary-mucinous neoplasm of the pancreas that arises from the main pancreatic duct.|NCI|N|
C3826988|A rare type of juvenile idiopathic inflammatory myopathy with onset before 18 years of age of chronic skeletal muscle inflammation, manifesting as progressive, proximal and distal muscle weakness and atrophy.|SNOMEDCT_US|N|
C3827194|Classification of glioblastoma into molecular subtypes as defined by gene expression profiling.|NCI|N|
C3827209|Painful red or purple patches, edematous plaques or blisters on the hands, feet, extremities or intertriginous regions; the onset can occur days to months after receiving chemotherapy.|NCI|N|
C3827231|The time when regular uterine contractions began that resulted in labor with or without the use of pharmacological and/or mechanical interventions. (reVITALize)|NCI|N|
C3827232|Abnormally high level of testosterone.|NCI|N|
C3827240|A change in the amino acid residue at position 842 in the platelet-derived growth factor receptor alpha protein where aspartic acid has been replaced by valine.|NCI|N|
C3827241|Patient did not like the question content.|NCI|N|
C3827244|A microscopic finding indicating the presence of scattered islands of pathologic processes in a tissue sample. The pathologic processes may refer to various abnormalities, including the presence of islands of malignant cells, presence of necrotic foci, and presence of islands of connective tissue that lack fibers.|NCI|N|
C3827253|A molecular subtype of glioblastoma characterized by lack of p53 mutations, chromosome 7 amplifications or deletions, and high levels of EGFR amplification.|NCI|N|
C3827254|Hypertension that predates pregnancy.|NCI|N|
C3827266|Any tumor lesion other than the largest tumor lesion targeted by therapy.|NCI|N|
C3827273|Unexpected death of a child over one year of age, which remains unexplained when all known and possible causes of death have been ruled out.|NCI|N|
C3827274|An indication or description that a subject characteristics test has occurred.|NCI|N|
C3827289|A microscopic finding indicating the presence or absence of loops forming networks in uveal melanoma.|NCI|N|
C3827293|A complex substitution where the nucleotide sequence at positions 1848 and 1849 of the coding sequence of the JAK2 gene has changed from thymine-guanine to cytosine-thymine.|NCI|N|
C3827380|The finding of a growth smaller than 5 mm x 5 mm that was not present at the previous evaluation. Its presence does not indicate disease progession but precludes a determination of complete remission based on the modified overall immune related response criteria.|NCI|N|
C3827386|A change in the amino acid residue at position 375 in the fibroblast growth factor receptor 2 protein where tyrosine has been replaced by cysteine.|NCI|N|
C3827648|A response indicating that an individual is or has been very happy most of the time.|NCI|N|
C3827657|An electrocardiographic finding of normal sinus rhythm coexisting with a regular ectopic ventricular rhythm.|NCI|N|
C3827658|An electrocardiographic finding of a normal QRS followed by a premature ventricular contraction; a rhythmic pairing of normal and atypical beats originating in the ventricles in a 1-1 ratio.|NCI|N|
C3827674|An anomaly of the U wave of the electrocardiogram (EKG). The U wave is a small (0.5 mm) deflection immediately following the T wave, usually in the same direction as the T wave. It is best seen in leads V2 and V3.|HPO|N|
C3827677|A carcinosarcoma of the uterus characterized by the presence of sarcomatous elements that arise from the tissues of the uterus.|NCI|N|
C3827678|A carcinosarcoma of the uterus characterized by the presence of sarcomatous elements composed of tissues that are not found in the uterus (e.g., bone, cartilage, skeletal muscle).|NCI|N|
C3827688|Narrowing of the luminal diameter of one or both ureters due to extrinsic pressure.|NCI|N|
C3827730|Indicates that a phlebotomist was unable to find or penetrate a blood vessel or was unable to acquire a blood sample following a successful vein stick.|NCI|N|
C3827731|Indicates that an individual is unable to self-collect a urine specimen.|NCI|N|
C3827732|Unable to meet the requirements of an individual''s disability or language.|NCI|N|
C3827733|Blockage of blood flow in the umbilical vessels.|NCI|N|
C3827773|Trial of labor in a woman with a previous cesarean delivery regardless of ultimate route of delivery.|NCI|N|
C3827791|A morphologic finding indicating the presence of an epithelial infiltrate resembling the cells of the transition zone of the prostate gland.|NCI|N|
C3827793|A common, self-limiting thyroid disorder seen in preterm infants that is characterized by abnormally low serum levels of thyroxine and free thyroxine with normal serum levels of thyroid stimulating hormone.|NCI|N|
C3827806|A colon that is longer than a normal colon, with additional bends and twists.|NCI|N|
C3827857|A red, edematous ring skin finding that may have a central dusky disk and an erythematous halo.|NCI|N|
C3827870|A translocation between chromosome 9 and chromosome 11.|NCI|N|
C3827872|A chromosomal translocation between 14q32 and 16q23. This rearrangement is associated with MAF protein overexpression in plasma cell myeloma.|NCI|N|
C3827885|Sustained donor-derived neutrophil recovery with achievement of donor chimerism equal or greater than 90%.|NCI|N|
C3827886|Sustained donor-derived neutrophil recovery with achievement of donor chimerism equal or greater than 90% at day 100.|NCI|N|
C3827956|A staff member is or was not available.|NCI|N|
C3827961|Preterm birth from 20 weeks to 36 weeks, 6 days of gestation associated with one of the following: classic preterm labor or preterm premature rupture of membranes.|NCI|N|
C3827992|A response indicating that something happens or happened some of the time.|NCI|N|
C3828188|A large intestinal glandular mucosal lesion in the mouse characterized by epithelial infoldings and ectopic crypt formation.|NCI|N|
C3828201|Loss of donor hematopoietic cells following initial engraftment.|NCI|N|
C3828222|The erroneous scheduling of an event.|NCI|N|
C3828369|An infrequent malignant neoplasm that occurs during childhood.|NCI|N|
C3828416|Injury resulting from exposure to ionizing radiation.|NCI|N|
C3828430|An electrocardiographic finding in which the QT interval corrected for heart rate using Fridericia''s formula is shortened. Thresholds for different age, gender, and patient populations exist. (CDISC)|NCI|N|
C3828431|An electrocardiographic finding in which the QT interval corrected for heart rate using Fridericia''s formula is prolonged. Thresholds for different age, gender, and patient populations exist.|NCI|N|
C3828432|An electrocardiographic finding in which the QT interval corrected for heart rate using Bazett''s formula is shortened. Thresholds for different age, gender, and patient populations exist. (CDISC)|NCI|N|
C3828433|An electrocardiographic finding in which the QT interval corrected for heart rate using Bazett''s formula is prolonged. Thresholds for different age, gender, and patient populations exist. (CDISC)|NCI|N|
C3828435|A diffuse or generalized outbreak of numerous pustules.|NCI|N|
C3828442|Abnormally absent or incomplete sexual development.|NCI|N|
C3828455|A protocol was misinterpreted.|NCI|N|
C3828462|Malfunction of a surgically-placed cardiac valve related to the valve itself or the area around the valve.|NCI|N|
C3828464|A molecular subtype of glioblastoma that is associated with younger age at presentation and is characterized by p53 mutations and PDGFRa amplifications.|NCI|N|
C3828476|Abnormally low levels of parathyroid hormone due to a disorder originating within the parathyroid glands.|NCI|N|
C3828477|Failure of initial engraftment of donor hematopoietic cells.|NCI|N|
C3828484|A microscopic finding indicating the presence of patterns formed by malignant cells outside the blood vessel circulation in uveal melanoma. The patterns are detectable using PAS stain without counterstaining with hematoxylin.|NCI|N|
C3828491|Nausea and/or vomiting co-occurring with pregnancy.|NCI|N|
C3828492|Diabetes diagnosed before current pregnancy. (reVITALize)|NCI|N|
C3828493|Unexpectedly sudden vaginal delivery.|NCI|N|
C3828503|Protrusion of the uterine fundus through the cervix when the placenta fails to detach from the uterus as it exits.|NCI|N|
C3828504|Severe loss of blood pressure leading to inadequate tissue perfusion after the delivery of the fetus.|NCI|N|
C3828505|Presence of a blood clot in the maternal vascular system which originated from a distant site during the postpartum period.|NCI|N|
C3828506|Presence of bacterially-infected tissue in the maternal vascular system which originated from a distant site during the postpartum period.|NCI|N|
C3828507|Presence of a large air bubble in the maternal vascular system which originated from a distant site during the postpartum period.|NCI|N|
C3828515|A morphologic finding indicating the presence of a malignant cellular infiltrate with poorly defined glands in a tissue sample.|NCI|N|
C3828527|A pathologic finding indicating the extent of visceral pleural invasion by a malignant neoplasm.|NCI|N|
C3828556|A change in the amino acid residue at position 1047 in the phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha isoform protein where histidine has been replaced by another amino acid.|NCI|N|
C3828557|A change in the amino acid residue at position 545 in the phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha isoform protein where glutamic acid has been replaced by another amino acid.|NCI|N|
C3828558|A change in the amino acid residue at position 542 in the phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha isoform protein where glutamic acid has been replaced by another amino acid.|NCI|N|
C3828570|An observation of the pharyngeal residue remaining after an individual swallows.|NCI|N|
C3828621|A disorder characterized by an electrocardiographic finding of three or more consecutive complexes of ventricular origin that was not present at birth in an individual under age 21. The QRS complexes are wide and have an abnormal morphology.|NCI|N|
C3828626|A variation in the amino acid sequence for the platelet-derived growth factor receptor alpha protein.|NCI|N|
C3828627|A nucleotide substitution at position 2525 of the coding sequence of the PDGFRA gene where adenine has been mutated to thymine.|NCI|N|
C3828659|Swelling and redness of the nail folds.|NCI|N|
C3828745|The last documented cervical dilation, in centimeters, when the provider orders admission. (reVITALize)|NCI|N|
C3828750|A change in the amino acid residue at position 61 in the GTPase NRas protein where glutamine has been replaced by another amino acid.|NCI|N|
C3828751|A change in the amino acid residue at position 13 in the GTPase NRas protein where glycine has been replaced by another amino acid.|NCI|N|
C3828752|A change in the amino acid residue at position 12 in the GTPase NRas protein where glycine has been replaced by another amino acid.|NCI|N|
C3828772|A response indicating that an individual does not feel limited at all.|NCI|N|
C3828803|The mother develops antibodies against red blood cell non-Rhesus antigens. This may lead to potential fetal adverse outcomes such as anemia.|NCI|N|
C3828805|A scar/healing of the myometrium that occurs after uterine injury or after non-cesarean surgery.|NCI|N|
C3828822|An electrocardiographic finding in leads V1 or V2 of an initial R wave duration greater than or equal to 40 ms, R wave greater than S wave, and upright T wave, which is suggestive of myocardial infarction of the posterior wall of the left ventricle, and which is new compared to prior ECGs. Evidence of inferior or lateral myocardial infarction is usually also present. (CDISC)|NCI|N|
C3828832|A molecular subtype of glioblastoma characterized by the expression of the neural markers NEFL, GABRA1, SYT1, and SLC12A5.|NCI|N|
C3828843|A chromosomal abnormality in which there are less than thirty chromosomes in a cell.|NCI|N|
C3828855|Nausea and vomiting occurring during the first 24 hours following chemotherapy.|NCI|N|
C3828878|A lesion having the shape of a mushroom.|NCI|N|
C3828884|Precancerous dysplastic lesions depleted of mucin in the colonic mucosa of the mouse.|NCI|N|
C3828954|A response indicating that something happens or happened most of the time.|NCI|N|
C3828985|The evaluation of the antitumor response shows that the sum of the longest diameters of target and new measurable lesions do not meet the criteria for complete remission, partial response (compared to baseline) or progressive disease (compared to nadir).|NCI|N|
C3828986|The evaluation of the antitumor response shows that the sum of the longest diameters of target and new measurable lesions increases by at least 20% (compared to nadir), and is confirmed by repeated, consecutive observations at least 4 weeks (normally done at 6 weeks) from the date first documented.|NCI|N|
C3828987|The evaluation of the antitumor response shows that the sum of the longest diameters of target and new measurable lesions has decreased by at least 30%.|NCI|N|
C3828988|The evaluation of the antitumor response shows a complete disappearance of all lesions (whether measurable or not) and no new lesions. All measurable lymph nodes also have a reduction in short axis diameter to 10 mm.|NCI|N|
C3828993|A baseline fetal heart rate with a detectable amplitude range that is greater than or equal to 6 but less than or equal to 25 beats per minute.|NCI|N|
C3829001|A chromosomal rearrangement where exons 5 through 11 or 5 through 12 of the MLL gene are duplicated and inserted upstream of exon 4 of the gene. This duplication results in transcripts and proteins that have the N-terminal region, which contains the AT hook DNA-binding motifs, and the transcriptional repression domain duplicated. This mutation is associated with myelodysplastic syndrome (MDS) and susceptibility of MDS progression to acute myeloid leukemia.|NCI|N|
C3829003|An intraductal papillary-mucinous neoplasm of the pancreas that arises primarily from the main pancreatic duct and extends to the branch ducts.|NCI|N|
C3829058|Patients in whom some, but not all, the criteria for partial response are fulfilled are classified as minimal response (MR), provided the remaining criteria satisfy the requirements for minimal response. MR requires all of the following: 1. 25-49% reduction in the level of the serum monoclonal paraprotein maintained for a minimum of 6 weeks; 2. 50-89% reduction in 24 h urinary light chain excretion, which still exceeds 200 mg/24 h, maintained for a minimum of 6 weeks; 3. for patients with non-secretory myeloma only, 25-49% reduction in plasma cells in a bone marrow aspirate and on trephine biopsy, if biopsy is performed, maintained for a minimum of 6 weeks; 4. 25-49% reduction in the size of soft tissue plasmacytomas (by radiography or clinical examination); 5. no increase in size or number of lytic bone lesions (development of a compression fracture does not exclude response) (adapted from National Comprehensive Cancer Network).|NCI|N|
C3829059|A numerical chromosomal abnormality characterized by the presence of copy number variations in less than five percent of chromosomal arms.|NCI|N|
C3829116|A carcinoma that arises from the intestinal tract of the mouse and has spread to other anatomic sites.|NCI|N|
C3829122|A molecular subtype of glioblastoma characterized by the presence of NF1 mutations.|NCI|N|
C3829174|The last recorded maternal weight prior to birth minus the last recorded weight immediately prior to pregnancy. (reVITALize)|NCI|N|
C3829182|A chromosomal abnormality in which a near-haploid cell line is masked by a co-existing hyperdiploid line.|NCI|N|
C3829183|The tumor shows lymphogenous or hematogenous metastasis to distant sites.|NCI|N|
C3829184|The tumor shows metastasis throughout the pleural and/or pericardial spaces.|NCI|N|
C3829185|The tumor shows invasion into the neighboring tissues and organs of the lower neck or upper chest.|NCI|N|
C3829186|The tumor shows invasion through the capsule and into the surrounding fatty tissue.|NCI|N|
C3829187|The tumor shows microscopic invasion into the capsule.|NCI|N|
C3829188|The tumor is completely encapsulated.|NCI|N|
C3829229|Metastasis that is clinically obvious.|NCI|N|
C3829282|A response indicating that an individual feels limited a lot.|NCI|N|
C3829283|A response indicating that an individual feels limited a little.|NCI|N|
C3829314|Birth at 41 weeks and 0 days through 41 weeks and 6 days.|NCI|N|
C3829315|Birth when a fetus is between 34 weeks and 0 days through 36 weeks and 6 days gestational age.|NCI|N|
C3829316|Death of a fetus at 16 weeks, 0 days to 19 weeks, 6 days of gestation.|NCI|N|
C3829363|A change in the amino acid residue at position 61 in the GTPase KRas protein where glutamine has been replaced by another amino acid.|NCI|N|
C3829364|A change in the amino acid residue at position 146 in the GTPase KRas protein where alanine has been replaced by another amino acid.|NCI|N|
C3829422|Able to carry on normal activity; minor signs or symptoms of disease.|NCI|N|
C3829423|Normal activity with effort; some sign or symptoms of disease.|NCI|N|
C3829424|Cares for self; unable to carry on normal activity or do active work.|NCI|N|
C3829425|Requires occasional assistance, but is able to care for most personal needs.|NCI|N|
C3829426|Requires considerable assistance and frequent medical care.|NCI|N|
C3829427|Disabled; requires special care and assistance.|NCI|N|
C3829428|Severely disabled; hospitalization is indicated, although death not imminent.|NCI|N|
C3829429|Very sick; hospitalization necessary; active support treatment is necessary.|NCI|N|
C3829430|Moribund; fatal processes progressing rapidly.|NCI|N|
C3829431|Normal; no complaints; no evidence of disease.|NCI|N|
C3829432|Dead.|NCI|N|
C3829469|A variation in the amino acid sequence for the tyrosine-protein kinase JAK2 protein.|NCI|N|
C3829470|A change in the amino acid residue at position 931 in the tyrosine-protein kinase JAK2 protein where tyrosine has been replaced by cysteine.|NCI|N|
C3829471|A change in the amino acid residue at position 617 in the tyrosine-protein kinase JAK2 protein where valine has been replaced by phenylalanine.|NCI|N|
C3829472|A change in the amino acid residue at position 938 in the tyrosine-protein kinase JAK2 protein where arginine has been replaced by leucine.|NCI|N|
C3829473|A change in the amino acid residue at position 929 in the tyrosine-protein kinase JAK2 protein where methionine has been replaced by isoleucine.|NCI|N|
C3829474|A change in the amino acid residue at position 960 in the tyrosine-protein kinase JAK2 protein where isoleucine has been replaced by valine.|NCI|N|
C3829475|A change in the amino acid residue at position 935 in the tyrosine-protein kinase JAK2 protein where glycine has been replaced by arginine.|NCI|N|
C3829476|A change in the amino acid residue at position 985 in the tyrosine-protein kinase JAK2 protein where glutamic acid has been replaced by lysine.|NCI|N|
C3829477|A nucleotide substitution at position 2792 of the coding sequence of the JAK2 gene where adenine has been mutated to guanine.|NCI|N|
C3829478|A nucleotide substitution at position 1849 of the coding sequence of the JAK2 gene where guanine has been mutated to thymine.|NCI|N|
C3829491|The presence of single tumor cells or tiny clusters of tumor cells in a pathologic specimen.|NCI|N|
C3829508|A chromosomal rearrangement where a genetic segment of chromosome 3 has been inverted.|NCI|N|
C3829512|Fetal death greater than or equal to 20 weeks of gestation during labor with Apgar scores of 0 at 1 minute, 5 minutes and beyond.|NCI|N|
C3829513|Severe loss of blood pressure leading to inadequate tissue perfusion after the onset of labor but prior to the delivery of the fetus.|NCI|N|
C3829514|The occurence of maternal fever during labor.|HPO|N|
C3829516|Infiltration of malignant glandular epithelial cells into the lamina propria of the intestine of the mouse without involvement of the submucosa.|NCI|N|
C3829517|An electrocardiographic finding of a premature ventricular complex which occurs between two normal QRS complexes which have normal timing. (CDISC)|NCI|N|
C3829543|Preterm birth from 20 weeks to 36 weeks, and 6 days of gestation that is necessitated by the medical condition of the mother or fetus.|NCI|N|
C3829547|The most clinically significant tumor lesion targeted by therapy. The lesion is typically the largest or highest graded of the tumor foci detected.|NCI|N|
C3829552|The wrong booklet was provided to an individual.|NCI|N|
C3829560|A change in the nucleotide sequence of the variable region of the immunoglobulin heavy chain locus.|NCI|N|
C3829577|Abnormally low level of progesterone.|NCI|N|
C3829578|A radiologic finding describing a region in an image with a signal lower than that of the surrounding regions.|NCI|N|
C3829579|Abnormally high level of progesterone.|NCI|N|
C3829580|A radiologic finding describing thin lines in an image with a signal higher than that of the surrounding tissue.|NCI|N|
C3829581|A radiologic finding describing a region in an image with a signal higher than that of the surrounding regions.|NCI|N|
C3829582|Abnormally high levels of aldosterone in the blood.|NCI|N|
C3829661|An area where large amounts of the radiotracer have accumulated and where there is a high level of chemical or metabolic activity.|NCI|N|
C3829672|Causes of death attributable to homicide or resulting from legal police intervention.|NCI|N|
C3829692|Inflammation of the fetal sac membranes that is characterized by neutrophilic infiltration of the amnion and chorion.|NCI|N|
C3829846|Transient blanching of the lower half of the body while in the lateral recumbent position, most commonly seen in premature or low birth weight infants.|NCI|N|
C3829994|A response indicating that an individual is or has been generally satisfied or pleased.|NCI|N|
C3830105|A sudden worsening of a condition.|NCI|N|
C3830110|An endoscopic finding indicating the presence of a wide-opened papilla filled with mucin.|NCI|N|
C3830129|A variation in the amino acid sequence for the fibroblast growth factor receptor 2 protein.|NCI|N|
C3830130|A change in the amino acid residue at position 372 in the fibroblast growth factor receptor 2 protein where serine has been replaced by cysteine.|NCI|N|
C3830131|A change in the amino acid residue at position 252 in the fibroblast growth factor receptor 2 protein where serine has been replaced by tryptophan.|NCI|N|
C3830132|A change in the amino acid residue at position 253 in the fibroblast growth factor receptor 2 protein where proline has been replaced by arginine.|NCI|N|
C3830133|A change in the amino acid residue at position 549 in the fibroblast growth factor receptor 2 protein where asparagine has been replaced by lysine.|NCI|N|
C3830134|A change in the amino acid residue at position 549 in the fibroblast growth factor receptor 2 protein where asparagine has been replaced by histidine.|NCI|N|
C3830135|A change in the amino acid residue at position 659 in the fibroblast growth factor receptor 2 protein where lysine has been replaced by glutamic acid.|NCI|N|
C3830136|A change in the amino acid residue at position 382 in the fibroblast growth factor receptor 2 protein where cysteine has been replaced by arginine.|NCI|N|
C3830137|A nucleotide substitution at position 758 of the coding sequence of the FGFR2 gene where cytosine has been mutated to guanine.|NCI|N|
C3830138|A nucleotide substitution at position 755 of the coding sequence of the FGFR2 gene where cytosine has been mutated to guanine.|NCI|N|
C3830139|A nucleotide substitution at position 1975 of the coding sequence of the FGFR2 gene where adenine has been mutated to guanine.|NCI|N|
C3830140|A nucleotide substitution at position 1647 of the coding sequence of the FGFR2 gene where thymine has been mutated to guanine.|NCI|N|
C3830141|A nucleotide substitution at position 1647 of the coding sequence of the FGFR2 gene where thymine has been mutated to adenine.|NCI|N|
C3830142|A nucleotide substitution at position 1645 of the coding sequence of the FGFR2 gene where cytosine has been mutated to guanine.|NCI|N|
C3830143|A nucleotide substitution at position 1144 of the coding sequence of the FGFR2 gene where thymine has been mutated to cytosine.|NCI|N|
C3830144|A nucleotide substitution at position 1124 of the coding sequence of the FGFR2 gene where adenine has been mutated to guanine.|NCI|N|
C3830145|A nucleotide substitution at position 1115 of the coding sequence of the FGFR2 gene where cytosine has been mutated to guanine.|NCI|N|
C3830146|A change in the nucleotide sequence of the FGFR2 gene.|NCI|N|
C3830147|An abnormality in the fetal heart rhythm associated with an increase in fetal heart rate above 160 beats per minute.|NCI|N|
C3830149|Abnormally low arterial blood oxygen concentration in a fetus.|NCI|N|
C3830277|A response indicating that an individual is or has been extremely happy and could not have been more satisfied or pleased.|NCI|N|
C3830280|A microscopic finding indicating the presence or absence of extravascular matrix loops in uveal melanoma.|NCI|N|
C3830281|Spread of uveal melanoma beyond the sclera.|NCI|N|
C3830283|An electrocardiographic finding of pathologic Q waves in leads V1 to V6, I and aVL, which is suggestive of myocardial infarction involving the anterior and anterolateral walls of the left ventricle. (CDISC)|NCI|N|
C3830290|A finding referring to a medical device that has been removed from the body, usually during a surgical procedure.|NCI|N|
C3830291|An antiquated term referring to a malignant lymphoma that is diffused and composed of small and large lymphocytes.|NCI|N|
C3830292|A malignant neoplasm of large lymphocytes, which resemble histiocytes.|NCI|N|
C3830293|A benign neoplasm composed of mesenchymal stromal cells.|NCI|N|
C3830294|A benign germ cell neoplasm of the testis. (CDISC)|NCI|N|
C3830295|A benign embryonal neoplasm of the kidney.|NCI|N|
C3830299|Bruising that is disproportionately high to the amount of trauma received or reported.|NCI|N|
C3830310|Fetal heart rate patterns not associated with maternal uterine contractions.|NCI|N|
C3830314|A well-defined area of unequivocally increased signal intensity on MRI or CT scan images compared with the normal-appearing surrounding tissues, following intravenous injection of an enhancing agent.|NCI|N|
C3830315|Irreparable damage to multiple organs/systems which is the result of chronic complications of diabetes. The affected organs/systems include the cardiovascular system, kidneys, eyes, nervous system, joints and feet.|NCI|N|
C3830317|Pregnancy loss at 6 weeks, 0 days to 9 weeks, 6 days of gestation of an embryo with crown-rump length less than 10 mm and no cardiac activity visible on ultrasonogram.|NCI|N|
C3830332|A change in the amino acid residue at position 719 in the epidermal growth factor receptor protein where glycine has been replaced by another amino acid.|NCI|N|
C3830341|Dead.|NCI|N|
C3830342|Completely disabled. Cannot carry on any selfcare. Totally confined to bed or chair.|NCI|N|
C3830343|Capable of only limited selfcare, confined to bed or chair more than 50% of waking hours.|NCI|N|
C3830344|Ambulatory and capable of all self care but unable to carry out any work activities. Up and about more than 50% of waking hours.|NCI|N|
C3830345|Restricted in physically strenuous activity but ambulatory and able to carry out work of a light or sedentary nature, e.g., light house work, office work.|NCI|N|
C3830346|Fully active, able to carry on all pre-disease performance without restriction.|NCI|N|
C3830348|A finding pertaining to the quality of an ECG recording.|NCI|N|
C3830361|Birth at 37 weeks and 0 days through 38 weeks and 6 days.|NCI|N|
C3830362|Pregnancy loss before 10th week of gestation with documentation of a confirmed pregnancy.|NCI|N|
C3830363|Death of a fetus at 10 weeks, 0 days to 15 weeks, 6 days of gestation.|NCI|N|
C3830369|Duration from rupture of membranes to birth (in hours and minutes). (reVITALize)|NCI|N|
C3830376|A morphologic finding indicating reduction in the numbers of interlobular and septal bile ducts in the liver tissue.|NCI|N|
C3830377|A morphologic finding indicating the presence of typical or atypical proliferation of biliary epithelial cells in the portal tracts of the liver.|NCI|N|
C3830391|A reaction to a drug characterized by skin findings common to lupus including photosensitivity and butterfly rash; typically it resolves after drug discontinuation.|NCI|N|
C3830466|A rare systemic and life-threatening infection associated with vaccination with the live attenuated strain of the Varicella-zoster virus, Oka.|NCI|N|
C3830467|Distant, or disseminated infection with Bacillus Calmette-Guerin (BCG) following vaccination associated with failure to contain thebacillus Calmette-Guerin (BCG) following vaccination leading to spread of BCG to many sites in the body. The tuberculosis vaccine BCG contains live attenuated Mycobacterium bovis.|HPO|N|
C3830477|An adverse event, and/or its immediate sequelae which is associated with physical or mental disabilities that affect or limit the ability of a person to perform activities of daily living (eating, ambulation, toileting, etc.).|NCI|N|
C3830518|Congenital anomalies or fetal/neonatal complications in an infant that are linked to diabetes in the mother. In infants of women with established insulin-dependent diabetes mellitus, the risk of congenital malformations is 10 times higher than that in the general population, and the rate of stillbirths is five times higher than that in the general population. Macrosomia is also a common problem among infants of women with established insulin-dependent diabetes mellitus. Excess mortality among infants of women with preexisting insulin-dependent diabetes mellitus is predominantly due to congenital malformations.|SNOMEDCT_US|N|
C3830526|Movement of a medical device to an unintended location within the body with resulting obstruction of an organ or vessel.|NCI|N|
C3830528|A finding referring to a medical device that has been demolished.|NCI|N|
C3830545|Nausea and vomiting occurring more than 24 hours following chemotherapy.|NCI|N|
C3831024|A malformation in the hand or foot that is present at birth. Representative examples include syndactyly, polydactyly, brachydactyly, and thumb hypoplasia.|NCI|N|
C3831034|A morphologic finding indicating the presence of fibrosis around an intrahepatic bile duct in the liver tissue.|NCI|N|
C3831078|Inflammation of the fetal sac membranes, characterized by otherwise unexplained fever (at or above 38 degree C (100.4F)) with one or more of the following: uterine tenderness and/or irritability, leukocytosis, fetal tachycardia, maternal tachycardia, or malodorous vaginal discharge.|NCI|N|
C3831087|Gene expression profiling that classifies uveal melanomas into a high-grade group.|NCI|N|
C3831088|Gene expression profiling that classifies uveal melanomas into a low-grade group.|NCI|N|
C3831089|Uveal melanoma with intermediate metastatic risk as defined by gene expression profiling.|NCI|N|
C3831090|Uveal melanoma with low metastatic risk as defined by gene expression profiling.|NCI|N|
C3831106|Chronic hypertension in association with preeclampsia.|NCI|N|
C3831153|Overproduction of thyroid hormones due to a disorder originating within the hypothalamic-pituitary axis.|NCI|N|
C3831255|An electrocardiographic finding of complete or incomplete right bundle branch block accompanied by ST elevation in leads V1-V3. This may be noted at rest or can be provoked by medication challenge. (CDISC)|NCI|N|
C3831292|A response indicating that an individual is or was very bothered.|NCI|N|
C3831310|A response indicating that an individual is or was bothered just a little.|NCI|N|
C3831317|The return of a booklet is or was not requested.|NCI|N|
C3831332|An electrocardiographic finding of a premature ventricular complex which occurs between two normal QRS complexes which have normal timing. (CDISC)|NCI|N|
C3831388|A molecular genetic abnormality in the kinase domain of the BCR-ABL fusion gene that results in resistance to tyrosine kinase inhibitors.|NCI|N|
C3831399|Abnormally low level of basophils in the blood.|NCI|N|
C3831472|A radiologic finding indicating the presence of new vessels on arterial phase imaging within or surrounding a lesion.|NCI|N|
C3831474|An arrhythmia that is detected on an electrocardiograph.|NCI|N|
C3831508|No specification on the details of the primary tumor growth.|NCI|N|
C3831524|An acute symptomatic tearing of the uterine wall prior to the onset of labor.|NCI|N|
C3831525|Fetal death greater than or equal to 20 weeks of gestation prior to labor with Apgar scores of 0 at 1 minute, 5 minutes and beyond.|NCI|N|
C3831526|Presence of a blood clot in the maternal vascular system which originated from a distant site during the antepartum period.|NCI|N|
C3831527|Presence of bacterially-infected tissue in the maternal vascular system which originated from a distant site during the antepartum period.|NCI|N|
C3831528|Presence of a large air bubble in the maternal vascular system which originated from a distant site during the antepartum period.|NCI|N|
C3831570|A response indicating that something happens or happened a little of the time.|NCI|N|
C3831592|A response indicating that something happens or happened a good bit of the time.|NCI|N|
C3831597|Excessive secretion of the androgen hormones dehydroepiandrosterone (DHEA), DHEA sulfate, and androstenedione, from the adrenal gland. Clinical manifestations may include virilization.|NCI|N|
C3831598|Abnormally low or absent secretion of the androgen precursor hormones dehydroepiandrosterone (DHEA), DHEA sulfate, and androstenedione, from the adrenal gland.|NCI|N|
C3831601|The deposition of lipids in tissue.|NCI|N|
C3831739|An electrocardiographic finding of pathologic Q waves with accompanying ST elevation in leads V1 to V6, I and aVL, which is suggestive of acute myocardial infarction involving the anterior and anterolateral walls of the left ventricle. (CDISC)|NCI|N|
C3831745|Causes of death attributable to accidents or their adverse events.|NCI|N|
C3831752|A clinical finding indicating the presence of a firm, indurated, or nodular lesion, which is suspicious for malignancy, during colorectal examination.|NCI|N|
C3831753|A clinical finding indicating the presence of a lesion, which is highly suspicious for malignancy, during colorectal examination.|NCI|N|
C3831784|Acute myeloid leukemia in which 80% or more of the leukemic cells are of monocytic lineage, including monoblasts, promonocytes, and monocytes. Bleeding disorders are common presenting features.|NCI|N|
C3833401|A response indicating that a person has a neutral opinion.|NCI|N|
C3836819|Migraine type caused by mutations in the SCN1A gene.|SNOMEDCT_US|N|
C3836857|Meckel-Gruber syndrome is a severe autosomal recessive ciliopathy classically defined by the triad of encephalocele, polydactyly, and renal and biliary ductal dysplasia. Clinical heterogeneity exists even within families (summary by Shaheen et al., 2011).
For a general phenotypic description and a discussion of genetic heterogeneity of Meckel syndrome, see MKS1 (249000).|OMIM|N|
C3837219|Disordered behavior associated with clinically significant distress or impairment in social, occupational or other important areas of functioning and persistent difficulty parting with possessions due to a perceived need to save the items and distress associated with discarding them. (from DSM-V) The quantity of collected items sets the behavior apart from normal collecting behaviors.|MSH|N|
C3837602|A form of facioscapulohumeral muscular dystrophy with digenic inheritance, caused by a combination of heterozygous mutation in the SMCHD1 gene and the presence of a haplotype that is permissive for DUX4.|NCI|N|
C3837958|In addition to classic type 1 (see 222100) and type 2 (see 125853) diabetes mellitus, atypical presentations are seen, particularly in populations of African ancestry. Ketosis-prone diabetes, the most common atypical form, is characterized by an acute initial presentation with severe hyperglycemia and ketosis, as seen in classic type 1 diabetes, but after initiation of insulin therapy, prolonged remission is often possible with cessation of insulin therapy and maintenance of appropriate metabolic control. Metabolic studies show a markedly blunted insulin secretory response to glucose, partially reversible with the improvement of blood glucose control. Variable levels of insulin resistance are observed, especially in obese patients. Pancreatic beta-cell autoimmunity is a rare finding, and association with type 1 susceptibility HLA alleles is variable (Sobngwi et al., 2002).|OMIM|N|
C3838076|An inherited susceptibility or predisposition to developing COPD.|MONDO|N|
C3838669|A classic form of congenital adrenal hyperplasia that is characterized by severe 21-hydroxylase deficiency, resulting in glucocorticoid and mineralocorticoid deficiency, but without clinically significant salt wasting, and with androgen excess, which causes virilization in female infants.|NCI|N|
C3838691|A rare subtype of cerebrofacial arteriovenous metameric syndrome characterized by unilateral arteriovenous malformations involving the cerebellum, pons, and mandible (lateral rhombencephalic group). The condition manifests in childhood. Common presenting signs and symptoms are progressive neurological deficit, hemorrhage, and cosmetic complaints like facial asymmetry.|ORDO|N|
C3838710|Future nutrient intake that is anticipated, based on observation, experience, or scientific reason, to exceed estimated nutrient requirement, established reference standards, or recommendations based on physiological needs.|SNOMEDCT_US|N|
C3838731|Familial hyperaldosteronism type I (HALD1), also referred to as glucocorticoid-remediable aldosteronism (GRA), is an autosomal dominant disorder characterized by hypertension, variable hyperaldosteronism, and abnormal adrenal steroid production, including 18-oxocortisol and 18-hydroxycortisol (Lifton et al., 1992). There is significant phenotypic heterogeneity, and some individuals never develop hypertension (Stowasser et al., 2000).
Genetic Heterogeneity of Familial Hyperaldosteronism
Familial hyperaldosteronism type II (HALD2; 605635) is caused by mutation in the CLCN2 gene (600570) on chromosome 3q27. Familial hyperaldosteronism type III (HALD3; 613677) is caused by mutation in the KCNJ5 gene (600734) on chromosome 11q24. Familial hyperaldosteronism type IV (HALD4; 617027) is caused by mutation in the CACNA1H gene (607904) on chromosome 16p13.|OMIM|N|
C3838758|Hyperaldosteronism type III (HALD3) is characterized by hypertension secondary to massive adrenal mineralocorticoid production. Like patients with glucocorticoid-remediable aldosteronism (GRA, or HALD1; 103900), patients with HALD3 present with childhood hypertension, elevated aldosteronism levels, and high levels of the hybrid steroids 18-oxocortisol and 18-hydroxycortisol. However, hypertension and aldosteronism in HALD3 are not reversed by administration of exogenous glucocorticoids and patients require adrenalectomy to control hypertension (Geller et al., 2008).|OMIM|N|
C3838782|A form of spastic cerebral palsy affecting all four limbs with neck and head paralysis, often accompanied by eating and breathing complications.|SNOMEDCT_US|N|
C3838784|A form of spastic cerebral palsy affecting both sides of the body; the Surveillance of Cerebral Palsy in Europe (SCPE) does not recommend the use of diplegia/quadriplegia terms, and recommends using instead the term bilateral spastic cerebral palsy and subtypes.|SNOMEDCT_US|N|
C3838786|Inflammation of the temporomandibular joint in the area located posterior to the articular disc.|SNOMEDCT_US|N|
C3838801|A condition following an arterial switch operation to correct transposition of the great arteries, in which the old aortic root becomes the new pulmonary root and where the new pulmonary valve does not prevent backflow to the right ventricle.|SNOMEDCT_US|N|
C3838808|A high-grade chondrosarcoma arising in the medulla of bone or within the cartilaginous cap of a pre-existing osteochondroma. It is characterized by the presence of increased cellularity and a greater degree of nuclear atypia, hyperchromasia, and mitotic activity as compared to grade 2 chondrosarcoma.|NCI|N|
C3838825|A locally aggressive, low grade chondrosarcoma arising in the medulla of bone or within the cartilaginous cap of a pre-existing osteochondroma in the appendicular skeleton.|NCI|N|
C3838831|A form of dyskinetic cerebral palsy with a combination of chorea and athetosis; movements are irregular, but twisting and curving.|SNOMEDCT_US|N|
C3838860|A form of Bartter syndrome characterized by maternal polyhydramnios, premature delivery, salt loss, polyuria and sensorineural deafness, associated with hypokalemic and hypochloremic metabolic alkalosis, increased levels of plasma renin and aldosterone, and low to normal blood pressure. Urinary calcium excretion rates are variable, and nephrocalcinosis is typically absent.|ORDO|N|
C3838867|Subarachnoid haemorrhage not due to rupture of aneurysm.|SNOMEDCT_US|N|
C3838874|Bleeding into the area between the arachnoid membrane and the pia mater, limited to the subarachnoid spaces around the midbrain.|SNOMEDCT_US|N|
C3838912|Ankle pain lasting less than three months.|SNOMEDCT_US|N|
C3838926|Characterised by severe headaches, with or without other acute neurological symptoms and diffuse segmental constriction of cerebral arteries.|SNOMEDCT_US|N|
C3838927|A rare, congenital, heart malformation characterized by anomalous origin of one branch of the pulmonary arteries directly from the aorta and a normal origin of the other pulmonary artery from the main pulmonary artery coming from the right ventricular outflow tract. Patients present respiratory distress, congestive heart failure and failure to thrive within the first days/months of life.|ORDO|N|
C3838947|An invasive breast carcinoma characterized by the presence of clusters of malignant cells located within artifactual clear stromal spaces that resemble vascular spaces.|NCI|N|
C3838951|An intermediate-grade chondrosarcoma arising in the medulla of bone or within the cartilaginous cap of a pre-existing osteochondroma. It is characterized by the presence of increased cellularity and a greater degree of nuclear atypia and hyperchromasia as compared to grade 1 chondrosarcoma. Mitotic activity is present.|NCI|N|
C3838965|A rare benign ovarian stromal tumor characterized by a stromal neoplasm with variable microcystic morphology, low mitotic activity, and diffuse nuclear beta-catenin and cyclin D1 immunoreactivity, while inhibin and calretinin are not expressed. Patients most commonly present with symptoms of a unilateral pelvic mass. Hormonal manifestations are usually absent. The tumor may be associated with familial adenomatous polyposis.|ORPHANET|N|
C3838993|Frontonasal arteriovenous malformation is a rare vascular anomaly characterized by abnormal communication between arteries and veins, bypassing the capillary bed, located in the frontonasal area. It may present with intermittent nasal bleeding, blurred vision, pustule formation and/or disfigurement. Overlying skin may be of normal appearance or may manifest a red, pulsatile mass with local rise of temperature. Other features may include pain, ulceration, excessive growth and/or congestive heart failure.|ORDO|N|
C3839013|A measurement of the length of the span between the anus and the base of the genitalia.|NCI|N|
C3839041|The reactivation of latent hepatitis C infection usually caused by a medicinal agent, such as an immunosuppressant.|SNOMEDCT_US|N|
C3839061|A phosphaturic mesenchymal tumor characterized by the presence of nuclear atypia, high mitotic activity, increased cellularity, marked pleomorphism, and necrosis. It usually develops in lesions that have recurred locally and metastasizes to other sites.|NCI|N|
C3839062|A usually large and aggressive tumor with perivascular epithelioid cell differentiation characterized by the presence of marked nuclear atypia, pleomorphism, increased mitotic activity, necrosis, and infiltrative margins. The most common metastatic sites are liver, lungs, lymph nodes, and bone.|NCI|N|
C3839073|An abnormality of the nipple.|HPO|N|
C3839104|Morphological alterations to squamous cells that fall short of low-grade dyskaryosis but that cannot be identified with certainty as the consequence of inflammatory, reactive, metaplastic, or hormonal processes.|SNOMEDCT_US|N|
C3839106|A rare benign chondroid and osteoid matrix-producing neoplasm of bone characterized by extensive myxoid changes. OMX originate from bony cortices and have been observed in the nasal region, as well as the tibia and radius.|HPO|N|
C3839148|A rare neurovascular malformation characterized by massive dilation of one or more dural sinuses typically associated with arteriovenous shunts. Anatomic types are the lateral type involving the jugular bulb, which presents with minimal symptoms, and the usually symptomatic midline type involving the confluens sinuum (torcular Herophili) and adjacent posterior sinuses. Complications include sinus thrombosis, venous infarction, and cerebral hemorrhage, as well as cardiac failure, macrocrania, and hydrocephalus. Spontaneous regression of the malformation may occur.|ORDO|N|
C3839159|An ectopic tooth that has erupted on the lingual aspect of the maxilla or mandible.|SNOMEDCT_US|N|
C3839166|A reactive fibrous lesion of adductor magnus and aponeurotic origin of the medial head of gastrocnemius of the distal femur.|SNOMEDCT_US|N|
C3839184|An adenocarcinoma usually arising from the ovary. It is characterized by the presence of complex micropapillary structures covered by round and cuboidal cells with a high nuclear to cytoplasmic ratio.|NCI|N|
C3839237|Acute neurological dysfunction caused by haemorrhage localised to the subcortex, basal ganglia, and the diencephalon.|SNOMEDCT_US|N|
C3839250|This is a postprocedural valvular heart disease which results in the narrowing of the orifice of the tricuspid valve of the heart. It is a relatively rare condition that causes stenosis- increased resistance to blood flow through the valve.|SNOMEDCT_US|N|
C3839265|A group of rare arteriovenous malformations characterized by unilateral vascular malformations in a metameric distribution involving the craniofacial region. Subtypes differ according to the distribution of lesions, with cerebrofacial arteriovenous metameric syndrome (CAMS) 1 (medial prosencephalic group) involving the hypothalamus and nasal region, Wyburn-Mason syndrome (lateral prosencephalic group) involving the occipital lobe, thalamus, and maxilla, and CAMS 3 (lateral rhombencephalic group) involving the cerebellum, pons, and mandible.|ORDO|N|
C3839271|A form of spastic cerebral palsy affecting three limbs; this could be both arms and a leg, or both legs and an arm. In some instances, it has referred to one upper and one lower extremity and the face.|SNOMEDCT_US|N|
C3839312|Future nutrient intake that is anticipated, based on observation, experience, or scientific reason, to be less than estimated nutrient requirement, established reference standards, or recommendations based on physiological needs.|SNOMEDCT_US|N|
C3839323|Acquired angio-oedema due to the presence of neutralising antibodies against C1 inhibitor.|SNOMEDCT_US|N|
C3839324|Condition where foot exhibits an arch when non-weight bearing but shows collapse of the arch in stance.|SNOMEDCT_US|N|
C3839361|Arthralgia of knee less than three months.|SNOMEDCT_US|N|
C3839366|Describes the time in a woman''s life as she approaches menopause. This is usually three to five years before menopause and is often marked by irregular menstrual periods and many of the symptoms of menopause, including hot flashes, mood swings, night sweats, vaginal dryness, trouble concentrating, and infertility.|NCI|N|
C3839385|This is a non-rheumatic heart valve disorder in which outflow of blood from the right ventricle of the heart is obstructed at the level of the pulmonic valve, with regurgitation.|SNOMEDCT_US|N|
C3839407|Edema in the region of the upper eyelid.|HPO|N|
C3839433|A benign nerve sheath tumor characterized by the combination of histologic features seen in schwannomas, neurofibromas, and perineuriomas.|NCI|N|
C3839452|Mandibular arteriovenous malformation is a rare vascular anomaly characterized by an abnormal connection of the arterial and venous vasculature, without capillary connections, in the mandibular area, commonly presenting with minor gingival bleeding, dental loosening, lower lip numbness, facial deformity and malocclusion. This usually high-flow vascular malformation may also present with potentially life-threatening, spontaneous, or tooth extraction-induced, hemorrhagic shock.|ORDO|N|
C3839493|Occurs where a missing tooth or delayed replacement of lost teeth leads to extrusion of the opposing teeth into the edentulous space.|SNOMEDCT_US|N|
C3839536|A form of dyskinetic cerebral palsy with irregular movements that are not repetitive or rhythmic, and tend to be more jerky and shaky.|SNOMEDCT_US|N|
C3839574|A rare benign vascular tumor characterized by rapid growth after birth (followed by spontaneous partial regression over the course of years), potentially leading to life-threatening airway obstruction due to the subglottic location. Patients present with respiratory symptoms including biphasic stridor, recurrent croup, cyanosis, apnea, and sternal and intercostal retractions. The tumor may be accompanied by cutaneous hemangiomata, especially in the lower facial ("beard") distribution.|ORDO|N|
C3839589|Osteoporosis that results from medical conditions or treatments that interfere with the attainment of peak bone mass, contributing to the structural deterioration of bone tissue.|SNOMEDCT_US|N|
C3839590|Bleeding into the area between the arachnoid membrane and the pia mater surrounding the brain. Only intrasulcal bleeding within the hemispheric convexities, it does not result from aneurysm or trauma.|SNOMEDCT_US|N|
C3839597|Continuous involuntary contraction of the masticatory muscle.|SNOMEDCT_US|N|
C3839609|Nonsyndromic premature fusion of multiple sutures.|SNOMEDCT_US|N|
C3839612|An ulcerated nodule of cornea or conjunctiva.|SNOMEDCT_US|N|
C3839635|A condition following an arterial switch operation to correct transposition of the great arteries, in which the old pulmonary root becomes the new aortic root and where the new aortic valve is narrowed.|SNOMEDCT_US|N|
C3839644|Insufficient distance between the peri-implant mucosa margin and the bone crest.|SNOMEDCT_US|N|
C3839652|A papillary carcinoma of the thyroid gland which is encapsulated and resembles an encapsulated follicular neoplasm. Capsular invasion is present. The malignant follicular cells display the nuclear features that characterize the papillary adenocarcinomas of the thyroid gland.|NCI|N|
C3839655|CPPD crystals are demonstrated in tissues or synovial fluid by definite means (for example, chemical analysis) or by compensated polarised light microscopy and typical calcifications are seen on radiographs.|SNOMEDCT_US|N|
C3839658|Forced expiratory volume in one second (FEV1)/forced vital capacity (FVC) ratio is less than lower limits of normal (LLN), but FEV1 is more than its LLN.|SNOMEDCT_US|N|
C3839675|A person''s ability to walk in corridor on unit.|SNOMEDCT_US|N|
C3839685|A tumor with perivascular epithelioid cell differentiation characterized by the absence of pleomorphism and scarcity or absence of mitotic figures.|NCI|N|
C3839690|Crowded cells with pseudostratification but little nuclear abnormality, or coarsely clumped chromatin with entirely normal architecture.|SNOMEDCT_US|N|
C3839712|A process characterised by an initial immune response to a foreign tissue antigen of the same species resulting in the production of specific immunologic memory cells, antibodies and immune effector cells which may lead to cellular destruction or transplant rejection.|SNOMEDCT_US|N|
C3839719|Typically thunderclap headache recurring over 1-2 weeks, often triggered by sexual activity, exertion, Valsalva maneuvers and/or emotion. Headache can remain the sole symptom of reversible cerebral vasoconstriction syndrome.|SNOMEDCT_US|N|
C3839737|A severe form of astigmatism.|SNOMEDCT_US|N|
C3839741|Form of acute myeloid leukaemia having a shortage of all types of mature blood cells with onset in childhood or young adulthood.|SNOMEDCT_US|N|
C3839745|An invasive, non-metastasizing neoplasm with sweat duct differentiation that arises in the area of the nipple. Local recurrences have been reported.|NCI|N|
C3839753|An anomaly of the toenail.|HPO|N|
C3839766|Awareness of an illusory extra limb in addition to the real regular limbs.|SNOMEDCT_US|N|
C3839772|Immature red blood cells (erythroid cells) in the bone marrow are abnormal in size, shape, organisation, and/or number.|SNOMEDCT_US|N|
C3839782|A rare, genetic hypertension characterized by an adult onset of increased blood pressure associated with nephropathy progressing to end-stage renal disease. Renal biopsy may show interstitial fibrosis, glomerulosclerosis and mild tubular atrophy. Increased serum creatinine and proteinuria have also been reported.|ORPHANET|N|
C3839790|Near the time of trough substance concentration after administration of a substance.|SNOMEDCT_US|N|
C3839810|Maxillary arteriovenous malformation is a rare vascular anomaly characterized by an abnormal connection of the arterial and venous vasculature, without capillary connections, in the maxillofacial area, usually presenting with chronic, intermittent, and potentially life-threatening, hemorrhage. Association with infection, pain, pressure, pulsation, swelling, facial asymmetry, headache, ocular pain, tinnitus, otalgia, epistaxis, toothache and/or teeth mobility and compressibility into their sockets is possible, although it may also be asymptomatic.|ORDO|N|
C3839822|DICER1 tumor predisposition (DICER1) is characterized by an increased risk for pleuropulmonary blastoma (PPB), pulmonary cysts, thyroid gland neoplasia (multinodular goiter, adenomas, and/or thyroid cancer), ovarian tumors (Sertoli-Leydig cell tumor, gynandroblastoma, and sarcoma), and cystic nephroma. Less commonly observed tumors include ciliary body medulloepithelioma, nasal chondromesenchymal hamartoma, embryonal rhabdomyosarcoma, pituitary blastoma, pineoblastoma, central nervous system (CNS) sarcoma, other CNS tumors, and presacral malignant teratoid tumor. The majority of tumors occur in individuals younger than age 40 years. PPB typically presents in infants and children younger than age six years. Ovarian sex cord-stromal tumors are most often diagnosed before age 40 years. Cystic nephroma generally presents in young children but has also been reported in adolescents. Additional clinical features that may be seen include macrocephaly, ocular abnormalities, structural anomalies of the kidney and collecting system, and dental anomalies (bulbous crowns).|GeneReviews|N|
C3839847|Sexual grooming is the deliberate befriending and establishing of an emotional connection with a victim in order to sexually abuse.|SNOMEDCT_US|N|
C3839852|A very rare surgically-correctable form of primary aldosteronism (PA) due to an aldosterone-secreting adrenal malignancy.|ORPHANET|N|
C3839854|Ankle pain lasting longer than three to six months.|SNOMEDCT_US|N|
C3839861|Persistent health symptoms which remain unexplained after a complete medical evaluation. A cluster of symptoms that consistently appear together but without a known cause are referred to as a MEDICALLY UNEXPLAINED SYNDROME (MUS).|MSH|N|
C3839866|A rare genetic neurovascular malformation characterized by sac-like bulging of cerebral arteries due to weakening of the endothelial layer. Familial occurrence is suspected when two or more affected first- to third-degree relatives are present in a family. Aneurysms may remain asymptomatic throughout life, or rupture and thereby cause potentially life-threatening subarachnoid hemorrhage. Patients with familial cerebral saccular aneurysm are more likely to develop more than one brain aneurysm, are at greater risk of rupture, and tend to have poorer outcome after rupture than patients with sporadic cerebral aneurysms.|SNOMEDCT_US|N|
C3839868|Acute myeloid leukemia not associated with cytogenetic abnormalities.|NCI|N|
C3839876|Narrowing of the vaginal orifice with a covering seal, occurring as a result of cutting and appositioning the labia minora and/or the labia majora, with or without excision of the clitoris for non medical reasons. (WHO, UNICEF, UNFPA, 1997)|SNOMEDCT_US|N|
C3839921|A rare developmental defect during embryogenesis characterized by multifocal dilated lymphatic vessels involving multiple organs and tissues. Patients mostly present in infancy and childhood. Clinical course and prognosis depend on the affected sites and extent of the condition, deterioration of lung function being a major cause of morbidity and mortality.|ORDO|N|
C3839942|Acute otitis media which persists after one or two empiric antimicrobial courses of treatment.|SNOMEDCT_US|N|
C3839944|A condition following an arterial switch operation to correct transposition of the great arteries, in which the old aortic root becomes the new pulmonary root and where outflow of blood from the right ventricle of the heart is obstructed at the level of the pulmonic valve.|SNOMEDCT_US|N|
C3839955|An ossifying fibromyxoid tumor characterized by the presence of high grade nuclear features or increased cellularity and more than two mitotic figures per 50 HPFs.|NCI|N|
C3839965|This is a postprocedural heart valve disorder in which outflow of blood from the right ventricle of the heart is obstructed at the level of the pulmonic valve.|SNOMEDCT_US|N|
C3839989|This refers to the postprocedural failure of the heart''s tricuspid valve to close properly during systole. As a result, with each heart beat some blood passes from the right ventricle to the right atrium, the opposite of the normal direction.|SNOMEDCT_US|N|
C3839990|Narrowing of the anterior nasal aperture (piriform or pyriform aperture), which is a pear-shaped opening in the skull that forms the bony inlet of the nose.|HPO|N|
C3839997|Edema in the region of the Lower eyelid.|HPO|N|
C3840073|Near the time of peak substance concentration after administration of a substance.|SNOMEDCT_US|N|
C3840076|A group of rare tumors of testis comprising neoplasms of pure sex cord or pure stromal type, or neoplasms with admixtures of both components in various proportions and degree of differentiation. The tumors usually present as a painless testicular mass, although some may be associated with endocrine manifestations such as precocious puberty, gynecomastia, or erectile dysfunction. Malignant behavior is seen only in a small percentage of these tumors.|ORDO|N|
C3840083|A delay in closure (ossification) of the anterior fontanelle, which generally undergoes closure around the 18th month of life.|HPO|N|
C3840096|Slow escape rhythm associated with haemodynamic collapse.|SNOMEDCT_US|N|
C3840102|A rare subtype of cerebrofacial arteriovenous metameric syndrome characterized by unilateral arteriovenous malformations involving the hypothalamus and nasal region (medial prosencephalic group). The condition manifests in childhood. Common presenting signs and symptoms are progressive neurological deficit, hemorrhage, and cosmetic complaints like facial asymmetry.|ORDO|N|
C3840105|Nonsyndromic premature fusion of a single suture.|SNOMEDCT_US|N|
C3840106|Condition with either the sacralisation of the lowest lumbar segment or the lumbarisation of the most superior sacral segment of the spine.|SNOMEDCT_US|N|
C3840120|A person''s ability to walk between locations in a room.|SNOMEDCT_US|N|
C3840121|An eating or feeding disturbance (e.g., apparent lack of interest in eating or food; avoidance based on the sensory characteristics of food; concern about aversive consequences of eating) as manifested by persistent failure to meet appropriate nutritional and/or energy needs associated with one (or more) of the following: significant weight loss (or failure to achieve expected weight gain or faltering growth in children); significant nutritional deficiency; dependence on enteral feeding or oral nutritional supplements; or marked interference with psychosocial functioning. (from DSM-V)|MSH|N|
C3840135|Acquired angioedema due to activation of the classical complement pathway related to an underlying lymphoreticular disorder particularly lymphoma or monoclonal gammopathy of unknown significance (MGUS)|SNOMEDCT_US|N|
C3840147|A less common type of cerebral palsy defined by decreased and/or fluctuating muscle tone; multiple forms of non-spastic cerebral palsy are each characterised by particular impairments; one of the main characteristics of non-spastic cerebral palsy is involuntary movement. Subtypes include ataxic and dyskinetic forms.|SNOMEDCT_US|N|
C3840190|Condition where the ulna projects more distally relative to the radius.|SNOMEDCT_US|N|
C3840194|A condition following an arterial switch operation to correct transposition of the great arteries, in which the old pulmonary root becomes the new aortic root and where the new aortic valve does not prevent backflow to the left ventricle.|SNOMEDCT_US|N|
C3840223|An exceptionally rare adenocarcinoma that arises from the rete ovarii.|NCI|N|
C3840252|An intermediate, rarely metastasizing blood vessel neoplasm that more frequently affects young adult males and usually arises in the lower limbs. In approximately half of the affected patients the tumor is painful and in two-thirds of the patients the tumor is multifocal. Morphologically it is characterized by the presence of sheets and fascicles of spindle cells with abundant eosinophilic cytoplasm and vesicular nuclei. Cytologic atypia is usually mild. Approximately 60% of the patients develop local recurrences or additional tumors in the same anatomic region.|NCI|N|
C3840558|A general term that refers to a TNM finding of a primary tumor limited to the site of growth. The definition of T1a2 TNM finding depends on the specific type of cancer to which it refers: for example, for cervical carcinoma it indicates measured stromal invasion of more than 3.0 mm and equal or less than 5.0 mm in depth.|NCI|N|
C3840595|A subjective response indicating that something is mostly false.|NCI|N|
C3840671|A response indicating a high level of satisfaction.|NCI|N|
C3840693|A response indicating the absence of sexual activity.|NCI|N|
C3840851|There was no surgical reconstruction performed.|NCI|N|
C3840984|An indication that something has very little quality, value or worth.|NCI|N|
C3841448|Showing many obvious signs of deterioration or decline.|NCI|N|
C3841449|In a much improved condition.|NCI|N|
C3841647|A response indicating that something is a little worse.|NCI|N|
C3841784|A subjective response that something happens daily or almost daily.|NCI|N|
C3841785|An indication that something is scheduled, or occurs, less than once a month.|NCI|N|
C3841798|A subjective response of poor agreement or ability.|NCI|N|
C3841905|A subjective answer of disagreement.|NCI|N|
C3842312|A response indicating that something happens or happened infrequently.|NCI|N|
C3842451|A subjective response indicating that something is not at all true.|NCI|N|
C3842553|A response indicating that an individual is able to do something with much difficulty.|NCI|N|
C3842554|A response indicating that an individual is able to do something without any difficulty.|NCI|N|
C3842591|Eastern Cooperative Oncology Group Performance Status ECOG101 Standardized Character Result 0 - Fully active, able to carry on all pre-disease performance without restriction.|NCI|N|
C3842802|A subjective response indicating that something is definitely false.|NCI|N|
C3842803|A subjective response indicating that something is mostly true.|NCI|N|
C3842804|A subjective response indicating that something is definitely true.|NCI|N|
C3843068|A subjective response indicating that an individual finds something to be somewhat difficult.|NCI|N|
C3843085|A response indicating something happens or happened at each occurrence or occasion without exception.|NCI|N|
C3843089|A response indicating that it has been less than one year since an individual smoked a cigarette.|NCI|N|
C3843197|A response indicating that something happens or happened on one or two days.|NCI|N|
C3843207|Decreased tolerance to sound.|HPO|N|
C3843211|A subjective response indicating that something is somewhat false.|NCI|N|
C3843212|A subjective response indicating that something is somewhat true.|NCI|N|
C3843224|A response indicating that an individual is in slight disagreement with something.|NCI|N|
C3843225|A response indicating that an individual is in slight agreement with something.|NCI|N|
C3843247|A response indicating that an individual has or had moderate difficulty doing something.|NCI|N|
C3843248|A response indicating that an individual is able to do something with a little difficulty.|NCI|N|
C3843272|A response indicating that something happened less than half the time.|NCI|N|
C3843336|A response indicating a moderate level of satisfaction.|NCI|N|
C3843337|A response indicating an equal level of satisfaction and dissatisfaction.|NCI|N|
C3843338|A response indicating a moderate level of dissatisfaction.|NCI|N|
C3843339|A response indicating a high level of dissatisfaction.|NCI|N|
C3843353|A response indicating that something is or was very difficult.|NCI|N|
C3843354|A subjective response indicating that an individual finds something to be extremely difficult.|NCI|N|
C3843355|A response indicating that something is or was not difficult.|NCI|N|
C3843356|A response indicating that something is or was slightly difficult.|NCI|N|
C3843357|A response indicating that sexual intercourse was not attempted.|NCI|N|
C3843789|A response indicating that 7 to 10 hours were spent on an activity.|NCI|N|
C3843790|A response indicating that 4 to 6 hours were spent on an activity.|NCI|N|
C3844034|A response indicating that an individual experiences or experienced something on some days.|NCI|N|
C3844113|A response indicating that something happens or happened almost all of the time.|NCI|N|
C3844120|A response indicating that an individual is able to do something with some difficulty.|NCI|N|
C3844126|A response indicating that an individual is able to do something for the smallest amount of effort or duration of time.|NCI|N|
C3844157|A response indicating that something happened always or almost always.|NCI|N|
C3844158|A response indicating that something happened never or almost never.|NCI|N|
C3844350|An indication that something is possible, but not uncertain.|NCI|N|
C3844690|Combat Exposure Scale CES0104 Original Result - 26-50%.|NCI|N|
C3844702|A response indicating that something was occurring or recurring nearly continually without interruption.|NCI|N|
C3844726|A subjective answer of non-agreement regarding the importance of something.|NCI|N|
C3844728|A subjective answer of mild agreement regarding the importance of something.|NCI|N|
C3844729|A subjective answer of very strong agreement regarding the importance of something.|NCI|N|
C3844738|No apparent change or worsening in lesion staging classification.|NCI|N|
C3844799|A form of ehrlichiosis associated with Ehrlichia chaffeensis, an obligate intracellular pathogen affecting monocytes and macrophages.|MONDO|N|
C3845217|An indication that an individual lives with one or more unspecified persons.|NCI|N|
C3845231|The gene product has little to no metabolic enzyme activity.|SNOMEDCT_US|N|
C3845232|The gene product metabolic enzyme activity is less than normal activity and greater than poor activity.|SNOMEDCT_US|N|
C3845234|The gene product metabolic enzyme activity is increased compared to rapid metabolizers.|SNOMEDCT_US|N|
C3845271|A change in a nucleotide sequence where nucleotides in a reference sequence are replaced by other nucleotides and which is not a substitution, inversion or conversion.|NCI|N|
C3845318|A response indicating that an individual is or was moderately limited by something.|NCI|N|
C3845368|An indication that something occurs or occurred less than once a week.|NCI|N|
C3845469|An indication that something occurs or occurred three or more times a week.|NCI|N|
C3845472|An indication that something occurs or occurred once or twice a week.|NCI|N|
C3845569|A directive to indicate a response not listed.|NCI|N|
C3845607|Combat Exposure Scale CES0104 Original Result - 51-75%.|NCI|N|
C3845714|A subjective response indicating that something is true or present several days.|NCI|N|
C3845826|An indication that a material or agent was not prescribed as part of a treatment plan.|NCI|N|
C3846374|Locally advanced cancer that has spread to nearby organs but not to distant anatomic sites. The definition of stage IIID depends on the particular type of cancer that it refers to; for example, for cutaneous melanoma, stage IIID is defined as follows: T4b, N3a/b/c, M0. T4b: Tumor measuring more than 4.0 mm in thickness. Ulceration status: With ulceration. N3a: Four or more clinically occult nodal metastasis (i.e., detected by sentinel lymph node biopsy). Presence of in-transit, satellite, and/or microsatellite metastases: No. N3b: Four or more nodal metastases, at least one of which was clinically detected, or presence of any number of matted nodes. Presence of in-transit, satellite, and/or microsatellite metastases: No. N3c: Two or more clinically occult nodal metastases. Presence of in-transit, satellite, and/or microsatellite metastases: Yes. M0: No evidence of distant metastasis. LDH level is not applicable. (partially adapted from AJCC 8th ed.)|NCI|N|
C3846387|A general term that refers to a TNM finding of a primary tumor limited to the site of growth. The definition of T1b1 TNM finding depends on the specific type of cancer to which it refers: for example, for cervical carcinoma it indicates measured stromal invasion measuring more than 5 mm in depth and equal or less than 2 cm in greatest dimension.|NCI|N|
C3846388|A general term that refers to a TNM finding of a primary tumor limited to the site of growth. The definition of T1b2 TNM finding depends on the specific type of cancer to which it refers: for example, for cervical carcinoma it indicates stromal invasion measuring more than 2 cm and equal or less than 4 cm in greatest dimension.|NCI|N|
C3846389|A general term that refers to a TNM finding of a primary tumor limited to the site of growth. The definition of T1a1 TNM finding depends on the specific type of cancer to which it refers: for example, for cervical carcinoma it indicates measured stromal invasion equal or less than 3 mm in depth.|NCI|N|
C3846720|Indicates that an assessment was not performed.|NCI|N|
C3849996|A pattern of food consumption adopted mainly by the people of North America and Western Europe. It is mainly characterized by high intake of MEAT, processed grains, DIETARY SUGARS, DAIRY PRODUCTS, and DIETARY FATS.|MSH|N|
C3850010|Referral of a sensory stimulus from one side of the body to the other.|HPO|N|
C3850039|Cortical malformations secondary to abnormal cortical maturation after CELL MIGRATION in NEUROGENESIS. This group includes injury to the cortex during later stages of cortical development such as POLYMICROGYRIA and focal cortical dysplasias.|MSH|N|
C3850040|Cortical malformations secondary to abnormal neuronal and glial CELL PROLIFERATION or APOPTOSIS in NEUROGENESIS. This group includes congenital MICROCEPHALIES; MICROLISSENCEPHALIES, megalencephalies, HEMIMEGALENCEPHALIES and cortical dysplasias with balloon cells.|MSH|N|
C3850067|A spontaneous cerebrospinal fluid leak (SCSFL) is a spontaneous and unexplained leak of the cerebrospinal fluid from the dura surrounding either the brain (cranial leak) or spine (spinal leak).|HPO|N|
C3850084|Morphological abnormalities of the cervical EPITHELIUM, usually revealed in PAP SMEAR, which do not meet the criteria for squamous CERVICAL INTRAEPITHELIAL NEOPLASIA or SQUAMOUS CELL CARCINOMAS of the CERVIX . It may be a sign of infection with certain types of human papillomavirus (HPV).or sign of a benign (not cancer) growth, such as a cyst or polyp or, in menopausal women, of low hormone levels. More testing, such as HPV test, may be needed.|MSH|N|
C3850139|Sudden death from overwork, most often as a result of acute CARDIOVASCULAR STROKE.|MSH|N|
C3850141|Sudden liver failure in the presence of underlying compensated chronic LIVER DISEASE (e.g., LIVER CIRRHOSIS; HEPATITIS; and liver injury and failure) due to a precipitating acute hepatic insult.|MSH|N|
C3850147|A biochemical phenomenon in which misfolded proteins aggregate either intra- or extracellularly. Triggered by factors such as MUTATION; POST-TRANSLATIONAL MODIFICATIONS, and environmental stress, it is generally associated with ALZHEIMER DISEASE; PARKINSON DISEASE; HUNTINGTON DISEASE; and TYPE 2 DIABETES MELLITUS.|MSH|N|
C3850155|A condition in which the external ear is underdeveloped or malformed.|NCI|N|
C3850157|Specific effects of drugs and substances on metabolic pathways such as those occurring through the CYTOCHROME P-450 ENZYME SYSTEM. These include effects that often result in DRUG INTERACTIONS; FOOD-DRUG INTERACTIONS; and HERB-DRUG INTERACTIONS.|MSH|N|
C3850166|A cytological test finding often from PAP SMEARS that shows abnormal lesions of SQUAMOUS EPITHELIAL CELLS of the CERVIX. It is a diagnostic criterion used in the Bethesda System for UTERINE CERVICAL NEOPLASMS and represents the PAP TEST result that is abnormal. Although squamous intraepithelial lesions test result does not mean UTERINE CERVICAL NEOPLASMS it requires follow-ups (e.g., HPV DNA TESTS; and COLPOSCOPY).|MSH|N|
C3850167|Morphological findings useful in differentiation and classification of results in CYTODIAGNOSIS and related techniques.|MSH|N|
C3852998|Lipedema with secondary LYMPHEDEMA involvement.|MSH|N|
C3853033|An unusual desire or craving for abnormal foods.|MSH|N|
C3853089|A subjective response indicating that something is moderately good.|NCI|N|
C3853122|The actual or perceived availability of informational, emotional, and tangible resources from others meets the individual''s needs.|SNOMEDCT_US|N|
C3853263|Body mass index (kg/m²) from 35.00 to 39.99.|SNOMEDCT_US|N|
C3853264|Body mass index (kg/m²) from 30.00 to 34.99.|SNOMEDCT_US|N|
C3853525|An auscultated finding that describes a low-frequency sound, heard late in diastole just before S1, caused by forceful atrial contractions, signifying the fourth heart sound. It is typically abnormal, except in highly trained athletes and the elderly. (ACC-AHA)|NCI|N|
C3853581|The condition of inability to eat normally treated by placement of a thin tube through the nose into the stomach that is then used to carry food.|HPO|N|
C3853779|Low platelet count associated with maternal platelet-specific alloantibodies.|HPO|N|
C3854130|A TNM stage finding term that refers to choroidal and ciliary body melanoma or conjunctival melanoma TNM staging. For choroidal and ciliary body melanoma it means tumor size category 2 with ciliary body involvement and extraocular extension 5 mm or less in largest diameter. For conjunctival melanoma it means caruncular tumor, and more than 1 quadrant of the nonbulbar conjunctiva involved. (from AJCC 8th Ed.)|NCI|N|
C3854131|A TNM finding term that refers to choroidal and ciliary body melanoma, conjunctival melanoma, or retinoblastoma TNM staging. For choroidal and ciliary body melanoma it means tumor size category 3 with ciliary body involvement and extraocular extension 5 mm or less in largest diameter. For conjunctival melanoma it means tumor of any size invading the nasolacrimal duct and/or lacrimal sac and/or paranasal sinuses. For retinoblastoma it means hyphema and/or massive vitreous hemorrhage (clinical) or full-thickness invasion into the outer third of the sclera and/or invasion into or around emissary channels (pathologic). (from AJCC 8th Ed.)|NCI|N|
C3854173|Pre-renal acute kidney injury (AKI), occurs when a sudden reduction in blood flow to the kidney (renal hypoperfusion) causes a loss of kidney function. In pre-renal acute kidney injury, there is nothing wrong with the kidney itself.|SNOMEDCT_US|N|
C3854181|A congenital, hairless plaque consisting of overgrown epidermis, sebaceous glands, hair follicles, apocrine glands and connective tissue. They are a variant of epidermal naevi. Sebaceous naevi most often appear on the scalp, but they may also arise on the face, neck or forehead. At birth, a sevaceous nevus typically appears as a solitary, smooth, yellow-orange hairless patch. Sebaceous naevi become more pronounced around adolescence, often appearing bumpy, warty or scaly.|HPO|N|
C3854357|Change in response to treatment or cure of a disorder or disease.|NCI|N|
C3854369|The presence of one or more bullae on the skin of the genital region, defined as fluid-filled blisters more than 5 mm in diameter with thin walls.|HPO|N|
C3854373|A rare life threatening acquired neurologic disease with characteristics of neuromyotonia, dysautonomia and encephalopathy with severe insomnia. Signs involving central (e.g. hallucinations, confusion, amnesia, myoclonus), autonomic (e.g. variations in blood pressure, hyperhidrosis) and peripheral (e.g. painful cramps, myokymia) hyperactivity, as well as systemic manifestations (such as weight loss, pruritus, fever), are reported. Thymoma is present in some cases.|SNOMEDCT_US|N|
C3854388|A finding of elevated serum level of FERRITIN. It is often associated with IRON OVERLOAD, repeated blood transfusions, malignancy, iron metabolic syndromes, virus infection, liver injury or dysfunction, and renal failure. Hyperferritinemia in iron metabolic syndromes (e.g., Still''s diseases, and HEMOPHAGOCYTIC SYNDROME) is referred to as dysmetabolic hyperferritinemia.|MSH|N|
C3854394|A rare multi-systemic disease with less than 10 cases described in literature. Manifests in mid-adulthood with the development of telangiectasia mostly on the face, trunk and arms, as well as with erythrocytosis that may cause a red facies and occasionally, headaches. The increased serum erythropoietin levels precede the intrapulmonary shunting. The intrapulmonary shunts cause hypoxia which slowly progresses until the person needs continuous supplemental oxygen. Blood clots, probably due to erythrocytosis, and bleeding in the brain have also been reported in some affected individuals. Monoclonal gammopathy and perinephric fluid collections are usually found incidentally and do not seem to cause any complications. The syndrome has a slow and regular progression. The cause of TEMPI syndrome is currently unknown. The abnormal plasma-cell clone and/or the monoclonal gammopathy are suggested to be triggers of the disease.|SNOMEDCT_US|N|
C3854437|A rare neuroinflammatory disorder with characteristics of brainstem-predominant encephalomyelitis, which typically presents with cerebellar and cranial nerve manifestations (gait ataxia, dysarthria, visual disorders, parasthesia), as well as brainstem, myelopathy and cognitive findings that respond to steroid treatment. Punctate curvilinear post-gadolinium contrast enhancement predominantly in the pons and cerebellum is observed on brain MRI and prominent, perivascular, CD3+ T-cell predominantly lymphocytic inflammation in neuropathology.|SNOMEDCT_US|N|
C3854542|Pinhole-sized concave depressions with hyperkeratosis in the skin of a finger or toe.|HPO|N|
C3854594|A type of anemia characterized by abnormally large erythrocytes with abnormally high amounts of hemoglobin.|HPO|N|
C3854603|A rare hematological disease characterized by maternal alloimmunisation against fetal platelet antigens that are inherited from the father and different from those present in the mother, and usually presents as a severe isolated thrombocytopenia in otherwise healthy newborns.|ORDO|N|
C3854605|The average blood pressure reading in the pulmonary artery as calculated through multiple cardiac cycles.|NCI|N|
C3854629|An abnormal increase in the thickness (diameter) of a tendon.|HPO|N|
C3863761|Fingers appear swollen and plump owing to inflammation of the complete finger.|HPO|N|
C3869849|A general term that refers to a TNM finding of a primary tumor with direct invasion of adjacent structures. The definition of T2a2 TNM finding depends on the specific type of cancer to which it refers: for example, for cervical carcinoma it indicates involvement limited to the upper two-thirds of the vagina without parametrial invasion measuring more than 4.0 cm in greatest dimension.|NCI|N|
C3869907|A mycosis fungoides/Sezary syndrome stage defined as follows: T1-4, N0-2, M0, B2. T1: Limited patches, papules, and/or plaques covering less than 10% of the skin surface. T2: Patches, papules, or plaques covering 10% or more of the skin surface. T3: One or more tumors (equal or greater than 1 cm in diameter). T4: Confluence of erythema covering 80% or more of body surface area. N0: No clinically abnormal peripheral lymph nodes; biopsy not required. N1: Clinically abnormal peripheral lymph nodes; histopathology Dutch grade 1 or National Cancer Institute (NCI) LN0-2. N2: Clinically abnormal peripheral lymph nodes; histopathology Dutch grade 2 or NCI LN3. M0: No visceral organ involvement. B2: High blood tumor burden: 1,000 per microliter or more Sezary cells with positive clone. (AJCC 8th ed.)|NCI|N|
C3869908|A mycosis fungoides/Sezary syndrome stage defined as follows: T1-4, N3, M0, B0-2. T1: Limited patches, papules, and/or plaques covering less than 10% of the skin surface. T2: Patches, papules, or plaques covering 10% or more of the skin surface. T3: One or more tumors (equal or greater than 1 cm in diameter). T4: Confluence of erythema covering 80% or more of body surface area. N3: Clinically abnormal peripheral lymph nodes; histopathology Dutch grades 3-4 or NCI LN4; clone positive or negative. M0: No visceral organ involvement. B0: Absence of significant blood involvement: 5% or less of peripheral blood lymphocytes are atypical (Sezary cells). B1: Low blood tumor burden: more than 5% of peripheral blood lymphocytes are atypical (Sezary cells) but does not meet the criteria of B2. B2: High blood tumor burden: 1,000 per microliter or more Sezary cells with positive clone. (AJCC 8th ed.)|NCI|N|
C3869910|A TNM finding indicating the spread of cancer to distant anatomic sites. The definition of M1d TNM finding depends on the specific type of cancer to which it refers: for example, for cutaneous melanoma it indicates distant metastasis to CNS with or without M1a, M1b, or M1c sites of disease. LDH level not recorded or unspecified.|NCI|N|
C3869920|A stage term referring to Hodgkin or non-Hodgkin lymphoma involving a single extralymphatic site in the absence of nodal involvement. (from AJCC 8th Ed.)|NCI|N|
C3869936|A general term that refers to a TNM finding of a primary tumor with direct invasion of adjacent structures. The definition of T2a1 TNM finding depends on the specific type of cancer to which it refers: for example, for cervical carcinoma it indicates involvement limited to the upper two-thirds of the vagina without parametrial invasion measuring 4.0 cm or less in greatest dimension.|NCI|N|
C3872645|Alteration to skin and/or mucous membrane epithelial integrity manifest by vesicular inflammation and superficial ulceration. These may be a result of disease that presents with cell and/or humoral immunity-mediated attack on epithelial-connective tissue targets.|SNOMEDCT_US|N|
C3872695|An idiopathic glomerular disease characterised by massive accumulation of atypical type III collagen fibrils within the mesangial matrix and subendothelial space of glomeruli.|SNOMEDCT_US|N|
C3872815|A rare interstitial lung disease characterized by the coexistence of emphysema and usual interstitial pneumonia, typically occurring in male smokers. Emphysema is usually encountered in the upper lobes, preceding fibrosis of the lower lobes. Patients present with severe dyspnea and markedly reduced diffusion capacity on functional testing, while spirometric values are relatively preserved. The syndrome is frequently complicated by pulmonary hypertension and acute lung injury.|ORDO|N|
C3872818|Child at risk of being neglected by others.|SNOMEDCT_US|N|
C3872820|Arrest of lung development in the pseudoglandular stage (weeks 8 to 16 of human gestation) resulting in small sized lungs, predominantly composed of bronchial and bronchiolar structures embedded in abundant loose mesenchyme that is poorly vascularized. Acinar structures are essentially absent, with no significant formation of saccules and no alveoli.|HPO|N|
C3872825|Suppression of the secretion of saliva.|SNOMEDCT_US|N|
C3872827|Inflammation of the gingivae and oral mucosa due to contact with irritants or allergens but without specification of which mechanism is involved.|SNOMEDCT_US|N|
C3872835|High muscle attachment in the mouth resulting in abnormal pull on the gingiva leading to gingival recession and/or inflammation.|SNOMEDCT_US|N|
C3872838|Structural abnormality of a valve in which the valve opening is narrowed and the valve fails to close properly.|SNOMEDCT_US|N|
C3872842|Mild Asperger''s syndrome present in an adult.|SNOMEDCT_US|N|
C3872847|Child at risk of being abused.|SNOMEDCT_US|N|
C3872848|Chronic pneumonitis of infancy is a rare pediatric form of interstitial lung disease (ILD, see this term).|ORDO|N|
C3872857|A patient speculated to have Ebola virus disease (EVD) based on symptomatology and history of exposure to the Ebola virus|SNOMEDCT_US|N|
C3872858|A patient without symptomatology or history to suggest concern for EVD.|SNOMEDCT_US|N|
C3872859|Someone who has been determined to be at high risk for developing Ebola virus disease (EVD). This may include criteria such as Center for Disease Control; 1.Percutaneous or mucous membrane exposure to blood or body fluids of an EVD patient; 2.Direct skin contact with, or exposure to blood or body fluids of, an EVD patient without appropriate personal protective equipment (PPE); 3.Processing blood or body fluids of a person with Ebola while the person was symptomatic without appropriate PPE or standard biosafety precautions; 4.Direct contact with a dead body without appropriate PPE in a country where an EVD outbreak is occurring; 5.Having lived in the immediate household and provided direct care to a person with Ebola while the person was symptomatic.|SNOMEDCT_US|N|
C3872860|Someone who has been determined to be at low risk for developing Ebola virus disease. This may include criteria such as Center for Disease Control; 1.Having been in a country with widespread Ebola virus transmission within the past 21 days and having had no known exposures; 2.Direct contact while using appropriate personal protective equipment (PPE) with a person with Ebola while the person was symptomatic; 3.Brief proximity with a person with Ebola while the person was symptomatic; 4.Travel on an aircraft with a person with Ebola while the person was symptomatic.|SNOMEDCT_US|N|
C3872861|A person with no known exposure to Ebola virus. This includes anyone who has been in a country in which an EVD outbreak occurred within the past 21 days and has had no high or low risk exposures to the Ebola virus.|SNOMEDCT_US|N|
C3872864|Based on symptomatology, the patient requires hospitalisation|SNOMEDCT_US|N|
C3872865|Based on symptomatology, the patient does not require hospitalisation|SNOMEDCT_US|N|
C3872897|Ability to perform activities to care for one''s body and bodily functions|NANDA-I|N|
C3873178|Findings similar to those in primary aldosteronism such as hypertension, hypokalemia, metabolic alkalosis, and low plasma renin activity caused by chronic ingestion of licorice (the root of glycyrrhiza glabra) and/or licorice-like compounds (such as carbenoxolone), or triazole antifungals (posaconazole and itraconazole). Plasma aldosterone levels are low rather than elevated as in primary aldosteronism.|SNOMEDCT_US|N|
C3873232|Gingival disease with an etiology other than dental plaque, such as bacterial, viral, fungal or genetic origin, due to systemic conditions, trauma, foreign body reactions, or other causes.|SNOMEDCT_US|N|
C3873241|Associates gingival fibromatosis with dental abnormalities including generalized thin hypoplastic amelogenesis imperfecta, intrapulpal calcifications and delay of tooth eruption.|SNOMEDCT_US|N|
C3873242|Excessive swallowing of saliva.|SNOMEDCT_US|N|
C3873302|A rare, acquired, interstitial lung disease, characterized by alveolar surfactant accumulation, cough, progressive dyspnea and respiratory insufficiency. The disease may be secondary to hematological disorder, toxic inhalation, and infection or may occur within the setting of immunosuppression after transplantation.|ORDO|N|
C3873343|Heiner syndrome, also called cow's milk hypersensitivity, is a food induced pulmonary hypersensiting syndrome that affects primarily infants and that is characterized by pulmonary hemosiderosis (see this term), digestive bleeding, anemia and poor growing, improving with elimination of cow's milk from the diet.|ORDO|N|
C3873357|A small vessel vasculitis restricted to the lungs that may induce diffuse alveolar haemorrhage without any underlying systemic disease.|SNOMEDCT_US|N|
C3873372|Well-differentiated fetal adenocarcinoma of the lung is a rare, primary, low-grade, bronchopulmonary neoplasm characterized by a well-circumscribed, usually large, pulmonary mass that is histologically composed of glycogen-rich neoplastic glands and tubules that resemble fetal lungs at 10 to 16 weeks of gestation and benign adjacent stroma. It typically presents with chest pain, cough, dyspnea, hemoptysis and/or generalized, non-specific symptoms, such as night sweats, lethargy, poor appetite and weight loss.|ORDO|N|
C3873401|A mucoepidermoid carcinoma that involves the trachea.|MONDO|N|
C3873402|Lipid deposits localized within the lung. Xanthomas are benign but are often an important visible sign of systemic conditions such as familial hypercholesterolemia.|HPO|N|
C3873412|Lupus erythematosus affecting oral mucosa. This may be associated with either cutaneous or systemic lupus erythematosus and presents most commonly as mucosal ulceration.|SNOMEDCT_US|N|
C3873429|A form of chronic oral candidosis involving multiple oral sites with angular cheilitis, retrocommissural leukoplakia, median rhomboid glossitis and palatal lesions.|SNOMEDCT_US|N|
C3873472|A rare, non-malformative vulvovaginal disease characterized by a combination of erosive or desquamative lichen planus (LP) of vulval, vaginal and gingival mucosae, with a high propensity for scarring and stricture formation. Additional sites of involvement are frequently observed (in particular, tongue, buccal mucosae, skin and perianal LP). Patients may be asymptomatic or, more commonly, present with pain, burning, discomfort and bleeding, dyspareunia, and seropurulent vaginal discharge.|ORDO|N|
C3873487|Illnesses due to micro-organisms and chemicals in drinking water, those caused by organisms having part of their lifecycle in water or those with water-related vectors, and others spread by aerosols containing pathogens.|MSH|N|
C3873490|A rare otorhinolaryngeal malformation characterized by a soft, fluctuant mass, abscess or draining tract along the anterior border of the lower half of sternocleidomastoid muscle, occasionally leading to development of retropharyngeal absces, acute suppurative thyroiditis, stridor, respiratory distress, odynophagia, and dysphagia. Anomaly occurs as a tract from the piriform sinus to the thyroid gland. A fourth branchial cleft fistula passes deep to the superior laryngeal nerve but superficial to the recurrent laryngeal nerve, which is the main difference in comparison to the third branchial cleft fistula.|ORDO|N|
C3873497|A respiratory infectious disorder that leads to an acute illness that requires medical attention.|NCI|N|
C3873502|A natural tooth that will be used as a retainer for a fixed prosthesis. A tooth that may have had limited previous treatment or is not perfectly aligned.|SNOMEDCT_US|N|
C3873508|The condition of a natural tooth as it relates to its position and strength to serve as an abutment for a fixed prosthesis.|SNOMEDCT_US|N|
C3873512|A natural tooth that will be used as a retainer for a fixed prosthesis. A tooth that is well aligned, but has had previous restorations or other damage to 4 or more sextants of the tooth that reduce its potential strength.|SNOMEDCT_US|N|
C3873513|A bacterial infection by Listeria monocytogenes in a sterile body compartment.|NCI|N|
C3873514|A natural tooth that will be used as a retainer for a fixed prosthesis. A tooth that is well aligned, but has had previous restorations or other damage in 1 or 2 sextants of the tooth that reduce its potential strength.|SNOMEDCT_US|N|
C3873515|A natural tooth that will be used as a retainer for a fixed prosthesis. A tooth that is well aligned, but has had previous restorations or other damage in 3 sextants of the tooth that reduce its potential strength.|SNOMEDCT_US|N|
C3873520|A natural tooth that will be used as a retainer for a fixed prosthesis. A tooth that is well aligned with no previous restorations or other damage that would compromise its strength.|SNOMEDCT_US|N|
C3873535|Embryonal rhabdomyosarcoma that has spread from its original site of growth to another anatomic site.|NCI|N|
C3873567|Any disorder affecting the peripheral nerves resulting from exposure to chemotherapeutic agents.|NCI|N|
C3873617|Continuous atrial fibrillation of greater than 12 months duration.|SNOMEDCT_US|N|
C3873618|A disorder, which is not a natural consequence or progression of any pre-existing disorder, resulting from a diagnostic procedure or any form of therapy that is not an intended or expected outcome of its use administered within a healthcare system.|SNOMEDCT_US|N|
C3873619|Partial progress has been made towards the targeted objective.|SNOMEDCT_US|N|
C3873621|There has been some digression away from the targeted objective.|SNOMEDCT_US|N|
C3873623|No progress has been made towards the targeted objective.|SNOMEDCT_US|N|
C3873624|The targeted objective cannot be achieved.|SNOMEDCT_US|N|
C3873628|Intimate partner abuse is defined as physical, sexual or psychological harm perpetrated by a current or former partner. The abuse can occur among heterosexual or same-sex couples and does not require sexual intimacy.|SNOMEDCT_US|N|
C3874311|Vomiting of material that is of fecal origin.|HPO|N|
C3874314|A rare otorhinolaryngeal malformation characterized by a soft, fluctuant mass, abscess or draining tract along the anterior border of the lower half of sternocleidomastoid muscle, occasionally leading to development of retropharyngeal absces, acute suppurative thyroiditis, stridor, respiratory distress, odynophagia,and dysphagia. Anomaly occurs as a tract from the piriform sinus to the thyroid gland. A third branchial cleft fistula passes superficial to both the superior and recurrent laryngeal nerves, which is the main difference in comparison to the fourth branchial cleft fistula.|ORDO|N|
C3874315|A rare otorhinolaryngological malformation characterized by the presence of a cyst, sinus or fistula occuring along the anterior border of the sternocleidomastoid muscle. Second branchial cleft fistulae and sinuses present with skin opening with chronic discharge and recurrent infections, whereas second branchial cleft cysts present as a painless, nontender, stable in size or slowly enlarging lateral neck masses. Cysts occasionally acutely increase in size during upper respiratory tract infection, leading to respiratory compromise, torticollis, and dysphagia.|ORDO|N|
C3874320|A rare otorhinolaryngological malformation characterized by recurrent infections, swelling, pain, discharge and abscess formation in the defect area. The anomaly results from incomplete fusion of the ventral part of the first and second branchial arch, presenting as either a fistula, sinus or cyst occurring anywhere between the external auditory canal and the mandibular angle, including parotid gland.|ORDO|N|
C3874329|ST segment elevation in leads II and/or III and/or aVF with ST segment elevation in V3R and/or V4R.|SNOMEDCT_US|N|
C3874334|A severe form of hearing impairment.|HPO|N|
C3874406|Laterognathia is understood as a lateral crossbite of individual or all side teeth with mandibular dislocation of the lower jaw''s center.|SNOMEDCT_US|N|
C3874422|An abnormal lesion or swelling seen on gallbladder imaging.|HPO|N|
C3874437|The caregiver''s attitude conflicts with the patient and/or the treatment plan.|SNOMEDCT_US|N|
C3874457|ST segment elevation in leads II and/or III and/or aVF.|SNOMEDCT_US|N|
C3874459|ST segment elevation in lead I and/or precordial leads V5-8 and/or aVL.|SNOMEDCT_US|N|
C3874460|ST segment elevation in precordial leads.|SNOMEDCT_US|N|
C3874462|ST segment elevation in precordial leads (V2-5) with ST segment elevation in leads II and/or III and/or aVF.|SNOMEDCT_US|N|
C3874464|ST segment depression in posteriorly placed precordial leads (V7-10).|SNOMEDCT_US|N|
C3874467|ST segment depression in leads V3-5.|SNOMEDCT_US|N|
C3874469|ST segment elevation in leads I and/or aVL with ST segment elevation in leads II and/or III and/or aVF.|SNOMEDCT_US|N|
C3874477|ST segment depression seen in multiple regions, including anterior, lateral and inferior.|SNOMEDCT_US|N|
C3874479|T wave inversion in leads v2-5.|SNOMEDCT_US|N|
C3874480|ST segment depression in leads II and/or III and/or aVF.|SNOMEDCT_US|N|
C3874800|At risk of injury when moving location.|SNOMEDCT_US|N|
C3874813|At risk of negative quality of life in terms of health and happiness, measured by a person''s ability to enjoy normal life activities.|SNOMEDCT_US|N|
C3874823|Nurse controlled analgesia is a technique by which the nurse or health professional licensed to administer medications, gives the patient a pre-programmed amount of an intravenous or subcutaneous analgesic solution as a bolus dose by the press of a button.|SNOMEDCT_US|N|
C3874925|Failure to follow the predictable course of grieving to resolution.|SNOMEDCT_US|N|
C3874987|A ureterocele that is located entirely within the bladder, and which may be associated with a single system, with the upper pole ureter of a completely duplicated system, or rarely associated with a lower pole ureter. (Adapted from Glassberg KI, Braren V, Duckett JW, Jacobs EC, King LR, Lebowitz RL et al. Suggested terminology for duplex systems, ectopic ureters and ureteroceles. J Urol 1984; 132(6):1153-1154.)|NCI|N|
C3875020|Potential for shallow breaths or breathing pauses lasting from a few seconds to minutes usually occurring during sleep.|PNDS|N|
C3875058|An inherited metabolic disorder that involves plasma protein metabolism malfunction.|MONDO|N|
C3875066|A purposeful and often repeated attempt to leave a healthcare setting.|SNOMEDCT_US|N|
C3875100|Mental and physical fatigue from prolonged or difficult treatment.|SNOMEDCT_US|N|
C3875102|Potential for the attitudes from the aspects of a religion to affect or guide the course of healthcare treatment recommendations or advice.|PNDS|N|
C3875114|Potential for inadequate circulation of blood causing decreased oxygenation to tissues resulting in cellular injury and inadequate tissue function.|PNDS|N|
C3875159|Potential for inadequate physiological activity of the heart to maintain adequate transportation and oxygenation of blood to the body.|PNDS|N|
C3875178|On dialysis to treat acute renal failure.|SNOMEDCT_US|N|
C3875183|Potential for inadequate physiological activity allowing the exchange of oxygen and carbon dioxide via cellular and external respirations to maintain the body''s needs.|PNDS|N|
C3875185|Potential for inadequate physiological activity of the central and/or peripheral nervous system to maintain normal affective, cognitive and neuromuscular function.|PNDS|N|
C3875242|Hypersensitivity in form of an adverse immune reaction against fungus.|HPO|N|
C3875321|The presence of inflammation of the skin. That is, an abnormality of the skin resulting from the local accumulation of fluid, plasma proteins, and leukocytes.|HPO|N|
C3875386|Physical stance often assumed by people experiencing respiratory distress or who are simply out of breath. In this position, a person sits or stands leaning forward and supports the upper body with hands on knees or other surface.|SNOMEDCT_US|N|
C3875483|A rare solid tumour like condition seen in young women, characterised by an accumulation of fluid within the ovarian stroma separating normal follicular structures.|SNOMEDCT_US|N|
C3887376|Fluctuating between male and female, or identifying as either having a gender that is in-between or beyond the two categories or as having no gender, either permanently or some of the time.|SNOMEDCT_US|N|
C3887461|A carcinoma that arises from the head and neck region. Representative examples include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma.|NCI|N|
C3887467|Impression of infrequent or difficult passage of hard, dry feces without cause.|CCC|N|
C3887479|Issues related to the ability to breastfeed.|NCI|N|
C3887485|Migraine is the most common type of chronic, episodic headache, as summarized by Featherstone (1985).
One locus for migraine with or without aura (MGR1) has been identified on chromosome 4q24. Other loci for migraine have been identified on 6p21.1-p12.2 (MGR3; 607498), 14q21.2-q22.3 (MGR4; 607501), 19p13 (MGR5; 607508), 1q31 (MGR6; 607516), 15q11-q13 (MGR7; 609179), 5q21 (with or without aura, MGR8, 609570; with aura, MGR9, 609670), 17p13 (MGR10; 610208), 18q12 (MGR11; 610209), 10q22-q23 (MGR12; 611706), and the X chromosome (MGR2; 300125).
Mutation in the KCNK18 gene (613655) on chromosome 10q25 causes migraine with aura (MGR13; 613656).
See also familial hemiplegic migraine-1 (FHM1; 141500), a subtype of autosomal dominant migraine with aura (MA).|OMIM|N|
C3887487|Supernumerary digits located at the ulnar side of the hand with a complete extra finger and extra metacarpal.|HPO|N|
C3887488|Loss of all color from the skin.|NCI|N|
C3887489|Terminal broadening of the toes (distal phalanges of the toes).|HPO|N|
C3887491|A type of pleural effusion with a exudate (extravascular fluid that has exuded out of a tissue or its capillaries due to injury or inflammation). Pleural effusions can be classified as transudates or exudates based on Light's criteria, which classify an effusion as exudate if one or more of the following are present|HPO|N|
C3887494|Hypohidrotic ectodermal dysplasia (HED) is characterized by hypotrichosis (sparseness of scalp and body hair), hypohidrosis (reduced ability to sweat), and hypodontia (congenital absence of teeth). The cardinal features of classic HED become obvious during childhood. The scalp hair is thin, lightly pigmented, and slow growing. Sweating, although present, is greatly deficient, leading to episodes of hyperthermia until the affected individual or family acquires experience with environmental modifications to control temperature. Only a few abnormally formed teeth erupt, at a later-than-average age. Physical growth and psychomotor development are otherwise within normal limits. Mild HED is characterized by mild manifestations of any or all the characteristic features.|GeneReviews|N|
C3887495|German syndrome is an autosomal recessive arthrogryposis syndrome, described in 5 cases. Three of the four known families with affected children were Ashkenazi Jews. German syndrome is characterized by arthrogryposis, hypotonia-hypokinesia sequence, and lymphedema. Patients present distinct craniofacial appearance (tall forehead and carp shaped mouth, cleft palate), contractures, and severe hypotonia manifesting as motor delay and swallowing difficulties. The disease has a severe morbidity and mortality rate and survivors present a small stature, hypotonia, frequent upper respiratory infections and psychomotor delay. There have been no further descriptions in the literature since 1987.|SNOMEDCT_US|N|
C3887496|A developmental defect resulting in the presence of fewer than the normal number of digits.|HPO|N|
C3887497|Autosomal recessive form of bifid nose.|MONDO|N|
C3887498|Incomplete duplication of the ureter.|HPO|N|
C3887499|A fluid filled sac in the kidney.|HPO|N|
C3887500|The prominence of the superficial vessels of the sclera or conjunctiva resulting in a red or pink appearance.|NCI|N|
C3887501|An inherited susceptibility or predisposition to developing aquired partial lipodystrophy.|MONDO|N|
C3887503|A bacterial infection by Listeria monocytogenes in a newborn infant up to 28 days old.|NCI|N|
C3887506|Motor hyperactivity with excessive movement of muscles of the body as a whole.|HPO|N|
C3887516|A mixed glioma that arises from the brain stem and occurs during childhood.|NCI|N|
C3887517|A gliosarcoma that arises from the brain stem and occurs during childhood.|NCI|N|
C3887518|A myxopapillary ependymoma that occurs during adulthood.|NCI|N|
C3887519|A neuroblastoma that arises from the central nervous system and occurs during childhood.|NCI|N|
C3887520|A pineoblastoma that occurs during childhood.|NCI|N|
C3887521|The reemergence of pineoblastoma in childhood after a period of remission.|NCI|N|
C3887523|Deficiency of very long-chain acyl-coenzyme A dehydrogenase (VLCAD), which catalyzes the initial step of mitochondrial beta-oxidation of long-chain fatty acids with a chain length of 14 to 20 carbons, is associated with three phenotypes. The severe early-onset cardiac and multiorgan failure form typically presents in the first months of life with hypertrophic or dilated cardiomyopathy, pericardial effusion, and arrhythmias, as well as hypotonia, hepatomegaly, and intermittent hypoglycemia. The hepatic or hypoketotic hypoglycemic form typically presents during early childhood with hypoketotic hypoglycemia and hepatomegaly, but without cardiomyopathy. The later-onset episodic myopathic form presents with intermittent rhabdomyolysis provoked by exercise, muscle cramps and/or pain, and/or exercise intolerance. Hypoglycemia typically is not present at the time of symptoms.|GeneReviews|N|
C3887524|A discontinuity of the skin exhibiting incomplete loss of the epidermis, a lesion that is moist, circumscribed, and usually depressed.|HPO|N|
C3887525|Keratosis follicularis spinulosa decalvans is an uncommon genodermatosis chiefly characterized by widespread keratosis pilaris, progressive cicatricial alopecia of the scalp, eyebrows, and eyelashes, and an excess of affected males. Photophobia, blepharitis/conjunctivitis, and corneal dystrophy are characteristic ancillary findings. It is most often inherited as an X-linked trait (summary by Castori et al., 2009).
Autosomal dominant inheritance has also been reported (KFSD; 612843).
The term 'cum ophiasi' means 'with ophiasis,' i.e., baldness in 1 or more winding streaks about the head, which comes from the Greek for snake. Decalvans refers to the loss of hair.|OMIM|N|
C3887527|A congenital anomaly characterized by a joining (fusion) of two or more cervical vertebral bodies with one another.|HPO|N|
C3887531|Limbus-to-limbus corneal thinning, often greatest in the periphery, with globular protrusion of the cornea.|HPO|N|
C3887532|The formation or development of an ulcer.|NCI|N|
C3887547|A broad classification of disorders which includes 6 subtypes (primary central sleep apnea, central sleep apnea due to Cheyne-Stokes breathing pattern, central sleep apnea due to medical condition not Cheyne-Stokes, central sleep apnea due to high-altitude periodic breathing, central sleep apnea due to drug or substance and primary sleep apnea of infancy) that are each characterized by interruptions in breathing while asleep. It is caused by improper signaling from the brainstem to respiratory muscles and is triggered by either hypoventilation or hyperventilation. In adults, this disorder may arise following a stroke, congestive heart failure, trauma, infection or the use of narcotic medications. It is more common in older males and may present as a co-morbid condition to obesity. Clinical signs include snoring, insomnia or hypersomnia, difficulty concentrating and fatigue. Recurrent episodes of hypoxia/hypoxemia have long-term detrimental effects on cardiovascular health.|NCI|N|
C3887548|Apnea resulting from depression of the respiratory centers in the medulla oblongata. There is a lack of respiratory effort rather than obstruction of airflow.|HPO|N|
C3887551|Interference or disruption of memory processes. Memory dysfunction refers to the inability to store and retrieve information. This term encompasses a large number of problems and issues associated with intellectual functioning. 2005|NCI|N|
C3887554|A type of subvalvular aortic stenosis resulting from thickening of the musculature of the interventricular septum, which results in obstruction to blood flow through the left-ventricular outflow tract.|HPO|N|
C3887558|Hemophagocytic syndrome (HPS) is a rare immune disease (see this term) and a potentially life-threatening disorder characterized by cytokine storm and overwhelming inflammation causing fever, hepatosplenomegaly, cytopenia, hypertriglyceridemia, hyperferritinemia, and hemophagocytosis in bone marrow, liver, spleen or lymph nodes. It can be either primary due to a genetic defect (primary hemophagocytic lymphohistiocytosis ; see this term), or secondary to malignancies, to infections, most commonly with viruses such as Epstein-Barr virus or cytomegalovirus, human immunodeficiency virus, or to autoimmune disorders such as systemic lupus erythematosus or adult-onset Still disease (secondary hemophagocytic lymphohistiocytosis) (see these termes).|ORDO|N|
C3887588|A rare idiopathic, benign respiratory disease characterized by submucosal cartilaginous and/or bony nodules presenting in the trachea with or without the involvement of the major bronchi; involvement is potentially anywhere along the anterior and lateral walls of the tracheobronchial tree with sparing the posterior walls.|ORDO|N|
C3887589|An old term for glycolysis. Often it is used to describe anaerobic glucose catabolism that includes the further conversion of PYRUVIC ACID to LACTIC ACID or ETHANOL.|MSH|N|
C3887590|Narrowing of the lumen of the ureter.|NCI|N|
C3887596|Arthritis that is not permanent.|MONDO|N|
C3887605|A sleep disorder characterized by the repeated occurrence of frightening dreams which precipitate awakenings from sleep; on awakening, the individual becomes fully alert and oriented and has detailed recall of the nightmare, which usually involves imminent danger or extreme embarrassment to the individual.|NCI|N|
C3887608|Congenital hydrocephalus-1 (HYC1) is characterized by onset in utero of enlarged ventricles due to a disturbance of cerebrospinal fluid accumulation. Affected individuals may have neurologic impairment (summary by Drielsma et al., 2012).
Hydrocephalus can also be caused by Arnold-Chiari malformation, atresia of foramen of Magendie, stenosis of aqueduct of Sylvius (307000), toxoplasmosis, hydranencephaly, etc. Furthermore, it develops in infancy or childhood in achondroplasia (100800) and in Hurler disease (607014).
Genetic Heterogeneity of Congenital Hydrocephalus
See also HYC2 (615219), caused by mutation in the MPDZ gene (603785) on chromosome 9p23; HYC3 (617967), caused by mutation in the WDR81 gene (614218) on chromosome 17p13; HYC4 (618667), caused by mutation in the TRIM71 gene (618570) on chromosome 3p22; and HYC5 (620241), caused by mutation in the SMARCC1 gene (601732) on chromosome 3p23.
An X-linked form of congenital hydrocephalus (HSAS, HYCX; 307000) is caused by mutation in the L1CAM gene on (308840) on chromosome Xq28.|OMIM|N|
C3887611|A state of unease is characterized by diffuse motor activity or motion, which is subject to limited control, nonproductive, or disorganized behavior.|HPO|N|
C3887612|Physical restlessness, often associated with increased motor activity.|NCI|N|
C3887628|Persistence of immune complexes in the blood circulation.|HPO|N|
C3887638|A clinical finding indicating less than normal growth in infancy.|NCI|N|
C3887639|Inflammation of the body fundic mucosa of the stomach. It results from the development of autoantibodies against the parietal and chief cells. It is associated with the presence of intestinal metaplasia and an increased risk of developing gastric carcinoma.|NCI|N|
C3887640|Proliferation of astrocytes in the area of a lesion of the central nervous system.|HPO|N|
C3887644|A microscopic finding indicating the presence of acute, subacute or chronic inflammation in a tissue sample.|NCI|N|
C3887645|A condition that is characterized by elevated serum IgE, dermatitis, and respiratory infections.|NCI|N|
C3887650|Disorder caused by an interruption of the mineralization of organic bone matrix leading to bone softening, bone pain, and weakness. It is the adult form of rickets resulting from disruption of VITAMIN D; PHOSPHORUS; or CALCIUM homeostasis.|MSH|N|
C3887651|Muscle weakness or paralysis of neurologic origin.|NCI|N|
C3887654|Adenosine deaminase 2 deficiency (DADA2) is a complex systemic autoinflammatory disorder in which vasculopathy/vasculitis, dysregulated immune function, and/or hematologic abnormalities may predominate. Inflammatory features include intermittent fevers, rash (often livedo racemosa/reticularis), and musculoskeletal involvement (myalgia/arthralgia, arthritis, myositis). Vasculitis, which usually begins before age ten years, may manifest as early-onset ischemic (lacunar) and/or hemorrhagic strokes, or as cutaneous or systemic polyarteritis nodosa. Hypertension and hepatosplenomegaly are often found. More severe involvement may lead to progressive central neurologic deficits (dysarthria, ataxia, cranial nerve palsies, cognitive impairment) or to ischemic injury to the kidney, intestine, and/or digits. Dysregulation of immune function can lead to immunodeficiency or autoimmunity of varying severity; lymphadenopathy may be present and some affected individuals have had lymphoproliferative disease. Hematologic disorders may begin early in life or in late adulthood, and can include lymphopenia, neutropenia, pure red cell aplasia, thrombocytopenia, or pancytopenia. Of note, both interfamilial and intrafamilial phenotypic variability (e.g., in age of onset, frequency and severity of manifestations) can be observed; also, individuals with biallelic ADA2 pathogenic variants may remain asymptomatic until adulthood or may never develop clinical manifestations of DADA2.|GeneReviews|N|
C3887658|Pulmonary venoocclusive disease primarily affects the postcapillary venous pulmonary vessels and may involve significant pulmonary capillary dilation and/or proliferation. PVOD is an uncommon cause of pulmonary artery hypertension (PPH; see 178600), a severe condition characterized by elevated pulmonary artery pressure leading to right heart failure and death. PVOD accounts for 5 to 10% of 'idiopathic' PPH and has an estimated incidence of 0.1 to 0.2 cases per million. The pathologic hallmark of PVOD is the extensive and diffuse occlusion of pulmonary veins by fibrous tissue, with intimal thickening present in venules and small veins in lobular septa and, rarely, larger veins. Definitive diagnosis of PVOD requires histologic analysis of a lung sample, although surgical lung biopsy is often too invasive for these frail patients. Patients with PVOD respond poorly to available therapy, therefore it is crucial to distinguish PVOD from other forms of PPH. Radiologic characteristics suggestive of PVOD on high-resolution CT of the chest include nodular ground-glass opacities, septal lines, and lymph node enlargement. In addition, because PVOD mainly affects postcapillary vasculature, it causes chronic elevation of pulmonary capillary pressure and thus promotes occult alveolar hemorrhage, which may be a characteristic feature of PVOD (summary by Montani et al., 2008).
Genetic Heterogeneity of Pulmonary Venoocclusive Disease
See also PVOD2 (234810), caused by mutation in the EIF2AK4 gene (609280) on chromosome 15q15.|OMIM|N|
C3887661|The sound produced by tissue vibrations in the nasopharynx and pharynx secondary to partial obstruction of the upper airway.|NCI|N|
C3887662|A neoplasm that occurs within the spinal canal including the spinal cord and surrounding paraspinal spaces.|NCI|N|
C3887663|An electrocardiographic finding of a regular supraventricular tachycardia due to reentry within the AV node. It is characterized by P waves which typically occur nearly simultaneously with the QRS complex, resulting in a P wave which is obscured by the QRS, merged with the QRS or which may follow the QRS. (CDISC)|NCI|N|
C3887667|A form of torticollis in which the head is drawn back, either due to a permanent contractures of neck extensor muscles, or to a spasmodic contracture.|HPO|N|
C3887668|An disease or disorder caused by infection with Trichinella spiralis.|MONDO|N|
C3887677|A granuloma caused by infectious organisms and characterized by the presence of abscess formation.|NCI|N|
C3887678|A primitive neuroectodermal neoplasm that occurs in the central nervous system.|HPO|N|
C3887688|Glare can be defined as the contrast lowering effect of stray light in a visual scene.|SNOMEDCT_US|N|
C3887709|Disorder of the optic nerve.|NCI|N|
C3887743|Wilms tumor is a form of kidney cancer that primarily develops in children. Nearly all cases of Wilms tumor are diagnosed before the age of 10, with two-thirds being found before age 5.\n\nWith proper treatment, children with Wilms tumor have a 90 percent survival rate. However, the risk that the cancer will come back (recur) is between 15 and 50 percent, depending on traits of the original tumor. Tumors usually recur in the first 2 years following treatment and develop in the kidneys or other tissues, such as the lungs. Individuals who have had Wilms tumor may experience related health problems or late effects of their treatment in adulthood, such as decreased kidney function, heart disease, and development of additional cancers.\n\nWilms tumor is often first noticed because of abdominal swelling or a mass in the kidney that can be felt upon physical examination. Some affected children have abdominal pain, fever, a low number of red blood cells (anemia), blood in the urine (hematuria), or high blood pressure (hypertension). Additional signs of Wilms tumor can include loss of appetite, weight loss, nausea, vomiting, and tiredness (lethargy).\n\nWilms tumor can develop in one or both kidneys. About 5 to 10 percent of affected individuals develop multiple tumors in one or both kidneys. Wilms tumor may spread from the kidneys to other parts of the body (metastasize). In rare cases, Wilms tumor does not involve the kidneys and occurs instead in the genital tract, bladder, abdomen, chest, or lower back. It is unclear how Wilms tumor develops in these tissues.|MedlinePlus Genetics|N|
C3887784|A decreased rate of urine production.|HPO|N|
C3887824|A finding indicating the presence of morphologic features of neoplasia in the epithelium of any part of the digestive system without evidence of invasion. These features include architectural and cytological epithelial alterations.|NCI|N|
C3887851|Projection of the tip of the dens more than 5 mm above a line joining the hard palate to the posterior lip of the foramen magnum (Chamberlain's line) or the tip of the dens is greater than 7 mm above McGregor's line (the back of the hard palate to the lowest point of the occipital squama).|HPO|N|
C3887873|A partial or complete loss of hearing in one or both ears. It is classified as conductive, sensory, or central.|NCI|N|
C3887875|An absolute or relative reduction in the extent of the normal field of vision.|NCI|N|
C3887876|Osteoarthritis is a common disease of the joints that primarily occurs in older adults. This condition is characterized by the breakdown of cartilage, the tough but flexible tissue that covers the ends of the bones at the joints and allows smooth joint movements. One or more parts of the body can be affected, most often the hands, shoulders, spine, knees, or hips.\n\nOsteoarthritis usually develops slowly, causing pain, stiffness, and restricted movement as the condition gets worse. Areas of bone no longer cushioned by cartilage rub against each other and start to break down. Further damage is caused as the body attempts to repair and rebuild these tissues. The immune system, which plays a role in healing injuries, targets these areas, and its response leads to inflammation of the joint tissues. Abnormal growths of bone (osteophytes) and other tissue can also occur, and may be visible as enlarged joints. Enlargement of the joints of the fingers is especially noticeable.\n\nPeople with osteoarthritis typically experience stiffness following periods of inactivity such as upon awakening or rising from a chair; the stiffness usually improves as they move around. In some affected individuals, the condition never causes major problems. In others, severe osteoarthritis can impair mobility and the ability to perform daily tasks, affecting quality of life and increasing the risk of other health conditions such as cardiovascular disease.\n\nOsteoarthritis is most common in middle age or late adulthood, because the cartilage at the joints naturally begins to thin as people age. However, it can occur earlier in life, especially after injuries affecting the joints such as a type of knee injury called an anterior cruciate ligament (ACL) tear. People who are overweight or whose activities are particularly stressful to the joints are also at increased risk of developing osteoarthritis.|MedlinePlus Genetics|N|
C3887892|An autosomal dominant form of bicuspid aortic valve caused by mutation(s) in the NOTCH1 gene, encoding neurogenic locus notch homolog protein 1.|NCI|N|
C3887896|Insufficient production of steroid hormones (primarily cortisol) by the adrenal glands as a result of a primary defect in the glands themselves.|HPO|N|
C3887897|Atrophoderma of Pierini and Pasini is thought to possibly represent a late stage of morphea a type of localized scleroderma. Signs and symptoms ofatrophoderma of Pierini and Pasini include multiple oval, darkened (hyperpigmented) plaques in which tissue under the skin breaks downso that there is a depression (dent) within the skin. Some findings suggest that atrophoderma of Pierini and Pasini may be associated with B burgdorferi, a bacteria that causesLyme disease, in some cases.|MONDO|N|
C3887898|Infantile spasms represent a subset of "epileptic spasms". Infantile Spasms are epileptic spasms starting in the first year of life (infancy).|HPO|N|
C3887901|A carcinoma that does not respond to treatment.|NCI|N|
C3887926|A cataract that has material basis in mutation in the region 14q22-q23.|MONDO|N|
C3887929|DFNA27 is characterized by postlingual progressive moderate to profound sensorineural hearing loss (Peters et al., 2008).|OMIM|N|
C3887930|An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 13q34.|MONDO|N|
C3887938|Normal color vision in humans is trichromatic, being based on 3 classes of cone that are maximally sensitive to light at approximately 420 nm (blue cones; 613522), 530 nm (green cones; 300821), and 560 nm (red cones; 300822). Comparison by neural circuits of light absorption by the 3 classes of cone photoreceptors allows perception of red, yellow, green, and blue colors individually or in various combinations. Dichromatic color vision is severely defective color vision based on the use of only 2 types of photoreceptors, blue plus green (protanopia; see 303900) or blue plus red (deuteranopia). Anomalous trichromacy is trichromatic color vision based on a blue, green, and an anomalous red-like photoreceptor (protanomaly), or a blue, red, and an anomalous green-like photoreceptor (deuteranomaly). The color vision defect is generally mild but may in certain cases be severe. Common variation in red-green color vision exists among both normal and color-deficient individuals (review by Deeb, 2005).|OMIM|N|
C3887939|Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the GDI1 gene.|MONDO|N|
C3887964|Autosomal dominant polycystic kidney disease (ADPKD) is generally a late-onset multisystem disorder characterized by bilateral kidney cysts, liver cysts, and an increased risk of intracranial aneurysms. Other manifestations include: cysts in the pancreas, seminal vesicles, and arachnoid membrane; dilatation of the aortic root and dissection of the thoracic aorta; mitral valve prolapse; and abdominal wall hernias. Kidney manifestations include early-onset hypertension, kidney pain, and kidney insufficiency. Approximately 50% of individuals with ADPKD have end-stage kidney disease (ESKD) by age 60 years. The prevalence of liver cysts increases with age and occasionally results in clinically significant severe polycystic liver disease (PLD), most often in females. Overall, the prevalence of intracranial aneurysms is fivefold higher than in the general population and further increased in those with a positive family history of aneurysms or subarachnoid hemorrhage. There is substantial variability in the severity of kidney disease and other extra-kidney manifestations.|GeneReviews|N|
C3887980|A type of anomalous trichromacy associated with defective long-wavelength-sensitive (L) cones, causing the sensitivity spectrum to be shifted toward medium wavelengths. This leads to difficulties especially in distinguishing red and green.|HPO|N|
C3887981|A retinitis pigmentosa that has material basis in variation in the chromosome region 16p12.3-p12.1.|MONDO|N|
C3887982|A retinitis pigmentosa that has material basis in variation in the chromosome region Xq26-q27.|MONDO|N|
C3888001|Hermansky-Pudlak syndrome (HPS) is characterized by oculocutaneous albinism, a bleeding diathesis, and, in some individuals, pulmonary fibrosis, granulomatous colitis, or immunodeficiency. Ocular findings include reduced iris pigment with iris transillumination, reduced retinal pigment, foveal hypoplasia with significant reduction in visual acuity (usually in the range of 20/50 to 20/400), nystagmus, and increased crossing of the optic nerve fibers. Hair color ranges from white to brown; skin color ranges from white to olive and is usually a shade lighter than that of other family members. The bleeding diathesis can result in variable bruising, epistaxis, gingival bleeding, postpartum hemorrhage, colonic bleeding, and prolonged bleeding with menses or after tooth extraction, circumcision, and other surgeries. Pulmonary fibrosis, a restrictive lung disease, typically causes symptoms in the early thirties and can progress to death within a decade. Granulomatous colitis is severe in about 15% of affected individuals. Neutropenia and/or immune defects occur primarily in individuals with pathogenic variants in AP3B1 and AP3D1.|GeneReviews|N|
C3888002|Pulmonary arterial hypertension is a progressive disorder characterized by abnormally high blood pressure (hypertension) in the pulmonary artery, the blood vessel that carries blood from the heart to the lungs. Pulmonary arterial hypertension is one form of a broader condition known as pulmonary hypertension. Pulmonary hypertension occurs when most of the very small arteries throughout the lungs narrow in diameter, which increases the resistance to blood flow through the lungs. To overcome the increased resistance, blood pressure increases in the pulmonary artery and in the right ventricle of the heart, which is the chamber that pumps blood into the pulmonary artery. Ultimately, the increased blood pressure can damage the right ventricle of the heart.\n\nSigns and symptoms of pulmonary arterial hypertension occur when increased blood pressure cannot fully overcome the elevated resistance. As a result, the flow of oxygenated blood from the lungs to the rest of the body is insufficient. Shortness of breath (dyspnea) during exertion and fainting spells are the most common symptoms of pulmonary arterial hypertension. People with this disorder may experience additional symptoms, particularly as the condition worsens.  Other symptoms include dizziness, swelling (edema) of the ankles or legs, chest pain, and a rapid heart rate.|MedlinePlus Genetics|N|
C3888004|Hermansky-Pudlak syndrome (HPS) is characterized by oculocutaneous albinism, a bleeding diathesis, and, in some individuals, pulmonary fibrosis, granulomatous colitis, or immunodeficiency. Ocular findings include reduced iris pigment with iris transillumination, reduced retinal pigment, foveal hypoplasia with significant reduction in visual acuity (usually in the range of 20/50 to 20/400), nystagmus, and increased crossing of the optic nerve fibers. Hair color ranges from white to brown; skin color ranges from white to olive and is usually a shade lighter than that of other family members. The bleeding diathesis can result in variable bruising, epistaxis, gingival bleeding, postpartum hemorrhage, colonic bleeding, and prolonged bleeding with menses or after tooth extraction, circumcision, and other surgeries. Pulmonary fibrosis, a restrictive lung disease, typically causes symptoms in the early thirties and can progress to death within a decade. Granulomatous colitis is severe in about 15% of affected individuals. Neutropenia and/or immune defects occur primarily in individuals with pathogenic variants in AP3B1 and AP3D1.|GeneReviews|N|
C3888007|Hermansky-Pudlak syndrome (HPS) is characterized by oculocutaneous albinism, a bleeding diathesis, and, in some individuals, pulmonary fibrosis, granulomatous colitis, or immunodeficiency. Ocular findings include reduced iris pigment with iris transillumination, reduced retinal pigment, foveal hypoplasia with significant reduction in visual acuity (usually in the range of 20/50 to 20/400), nystagmus, and increased crossing of the optic nerve fibers. Hair color ranges from white to brown; skin color ranges from white to olive and is usually a shade lighter than that of other family members. The bleeding diathesis can result in variable bruising, epistaxis, gingival bleeding, postpartum hemorrhage, colonic bleeding, and prolonged bleeding with menses or after tooth extraction, circumcision, and other surgeries. Pulmonary fibrosis, a restrictive lung disease, typically causes symptoms in the early thirties and can progress to death within a decade. Granulomatous colitis is severe in about 15% of affected individuals. Neutropenia and/or immune defects occur primarily in individuals with pathogenic variants in AP3B1 and AP3D1.|GeneReviews|N|
C3888010|Body mass index (BMI), which reflects the amount of fat, lean mass, and body build, is a heterogeneous trait influenced by both genetic and environmental factors. Several studies have estimated the heritability of body mass index to be 40 to 55% (Bouchard et al., 1998; Rice et al., 1999).
For discussion of genetic heterogeneity of BMI quantitative trait loci and their known or possible associations with variation in specific genes, see MAPPING and MOLECULAR GENETICS sections.|OMIM|N|
C3888011|Primary congenital glaucoma (PCG) is characterized by elevated intraocular pressure (IOP), enlargement of the globe (buphthalmos), edema, and opacification of the cornea with rupture of Descemet's membrane (Haab's striae), thinning of the anterior sclera and iris atrophy, anomalously deep anterior chamber, and structurally normal posterior segment except for progressive glaucomatous optic atrophy. Symptoms include photophobia, blepharospasm, and excessive tearing. Typically, the diagnosis is made in the first year of life. Depending on when treatment is instituted, visual acuity may be reduced and/or visual fields may be restricted. In untreated individuals, blindness invariably occurs.|GeneReviews|N|
C3888018|The severity of congenital hyperinsulinism varies widely among affected individuals, even among members of the same family. About 60 percent of infants with this condition experience a hypoglycemic episode within the first month of life. Other affected children develop hypoglycemia by early childhood. Unlike typical episodes of hypoglycemia, which occur most often after periods without food (fasting) or after exercising, episodes of hypoglycemia in people with congenital hyperinsulinism can also occur after eating.\n\nCongenital hyperinsulinism is a condition that causes individuals to have abnormally high levels of insulin. Insulin is a hormone that helps control levels of blood glucose, also called blood sugar. People with this condition have frequent episodes of low blood glucose (hypoglycemia). In infants and young children, these episodes are characterized by a lack of energy (lethargy), irritability, or difficulty feeding. Repeated episodes of low blood glucose increase the risk for serious complications such as breathing difficulties, seizures, intellectual disability, vision loss, brain damage, and coma.|MedlinePlus Genetics|N|
C3888024|A hallucination of an unpleasant odor.|NCI|N|
C3888026|Hermansky-Pudlak syndrome (HPS) is characterized by oculocutaneous albinism, a bleeding diathesis, and, in some individuals, pulmonary fibrosis, granulomatous colitis, or immunodeficiency. Ocular findings include reduced iris pigment with iris transillumination, reduced retinal pigment, foveal hypoplasia with significant reduction in visual acuity (usually in the range of 20/50 to 20/400), nystagmus, and increased crossing of the optic nerve fibers. Hair color ranges from white to brown; skin color ranges from white to olive and is usually a shade lighter than that of other family members. The bleeding diathesis can result in variable bruising, epistaxis, gingival bleeding, postpartum hemorrhage, colonic bleeding, and prolonged bleeding with menses or after tooth extraction, circumcision, and other surgeries. Pulmonary fibrosis, a restrictive lung disease, typically causes symptoms in the early thirties and can progress to death within a decade. Granulomatous colitis is severe in about 15% of affected individuals. Neutropenia and/or immune defects occur primarily in individuals with pathogenic variants in AP3B1 and AP3D1.|GeneReviews|N|
C3888029|An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 5q31.|MONDO|N|
C3888030|An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 1q43-q44.|MONDO|N|
C3888031|Spinocerebellar ataxia-35 (SCA35) is an autosomal dominant adult-onset neurologic disorder characterized by difficulty walking due to cerebellar ataxia. The age at onset ranges from teenage years to late adulthood, and the disorder is slowly progressive. Additional features may include hand tremor, dysarthria, hyperreflexia, and saccadic eye movements (summary by Guo et al., 2014).
For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (164400).|OMIM|N|
C3888044|Nephrogenic systemic fibrosis (NSF) is a rare systemic fibrosing condition observed in renally impaired patients and characterized by a hardening and thickening of the skin with fibrotic plaques or papules, pruritus, joint pain and stiffness, muscle weakness, limitation of range of motion, and yellowed eyes. It is generally associated with administration of gadolinium-based magnetic resonance imaging contrast agents (GBCA) in patients with kidney disease.|ORDO|N|
C3888065|Hypohidrotic ectodermal dysplasia (HED) is characterized by hypotrichosis (sparseness of scalp and body hair), hypohidrosis (reduced ability to sweat), and hypodontia (congenital absence of teeth). The cardinal features of classic HED become obvious during childhood. The scalp hair is thin, lightly pigmented, and slow growing. Sweating, although present, is greatly deficient, leading to episodes of hyperthermia until the affected individual or family acquires experience with environmental modifications to control temperature. Only a few abnormally formed teeth erupt, at a later-than-average age. Physical growth and psychomotor development are otherwise within normal limits. Mild HED is characterized by mild manifestations of any or all the characteristic features.|GeneReviews|N|
C3888076|Y-linked deafness-1 (DFNY1) is characterized by male-limited postlingual progressive sensorineural hearing loss of variable severity, with onset in the first to third decades of life (Wang et al., 2009).
Genetic Heterogeneity of Y-Linked Deafness
DFNY2 (400047) is caused by mutation in the TBL1Y gene (400033).|OMIM|N|
C3888087|A form of axonal Charcot-Marie-Tooth disease a peripheral sensorimotor neuropathy. A late onset with severe sensory loss associated with distal weakness mainly of the legs and absent or reduced deep tendon reflexes.|SNOMEDCT_US|N|
C3888088|Any Smith-McCort dysplasia in which the cause of the disease is a mutation in the DYM gene.|MONDO|N|
C3888090|A genetic disorder that usually presents in early childhood and is characterized by muscle contractions in a foot, leg, or arm that gradually spreads to other body regions.|NCI|N|
C3888093|Autosomal recessive congenital ichthyosis (ARCI) encompasses several forms of nonsyndromic ichthyosis. Although most neonates with ARCI are collodion babies, the clinical presentation and severity of ARCI may vary significantly, ranging from harlequin ichthyosis, the most severe and often fatal form, to lamellar ichthyosis (LI) and (nonbullous) congenital ichthyosiform erythroderma (CIE). These phenotypes are now recognized to fall on a continuum; however, the phenotypic descriptions are clinically useful for clarification of prognosis and management. Infants with harlequin ichthyosis are usually born prematurely and are encased in thick, hard, armor-like plates of cornified skin that severely restrict movement. Life-threatening complications in the immediate postnatal period include respiratory distress, feeding problems, and systemic infection. Collodion babies are born with a taut, shiny, translucent or opaque membrane that encases the entire body and lasts for days to weeks. LI and CIE are seemingly distinct phenotypes: classic, severe LI with dark brown, plate-like scale with no erythroderma and CIE with finer whiter scale and underlying generalized redness of the skin. Affected individuals with severe involvement can have ectropion, eclabium, scarring alopecia involving the scalp and eyebrows, and palmar and plantar keratoderma. Besides these major forms of nonsyndromic ichthyosis, a few rare subtypes have been recognized, such as bathing suit ichthyosis, self-improving collodion ichthyosis, or ichthyosis-prematurity syndrome.|GeneReviews|N|
C3888099|Bestrophinopathies, the spectrum of ophthalmic disorders caused by pathogenic variants in BEST1, are typically characterized by retinal degeneration. The four recognized phenotypes are the three autosomal dominant disorders: Best vitelliform macular dystrophy (BVMD), BEST1 adult-onset vitelliform macular dystrophy (AVMD), and autosomal dominant vitreoretinochoroidopathy (ADVIRC); and autosomal recessive bestrophinopathy (ARB). Onset is usually in the first decade (except AVMD in which onset is age 30 to 50 years). Slow visual deterioration is the usual course. Choroidal neovascularization can occur in rare cases. ADVIRC is also associated with panophthalmic involvement including nanophthalmos, microcornea, hyperopia, and narrow anterior chamber angle with angle closure glaucoma.|GeneReviews|N|
C3888102|C9orf72 frontotemporal dementia and/or amyotrophic lateral sclerosis (C9orf72-FTD/ALS) is characterized most often by frontotemporal dementia (FTD) and upper and lower motor neuron disease (MND); however, atypical presentations also occur. Age at onset is usually between 50 and 64 years (range: 20-91 years) irrespective of the presenting manifestations, which may be pure FTD, pure amyotrophic lateral sclerosis (ALS), or a combination of the two phenotypes. The clinical presentation is highly heterogeneous and may differ between and within families, causing an unpredictable pattern and age of onset of clinical manifestations. The presence of MND correlates with an earlier age of onset and a worse overall prognosis.|GeneReviews|N|
C3888103|Cleft between the helix and the lobe.|HPO|N|
C3888104|A primary glomerular disease with characteristics of proteinuria, type IV renal tubular acidosis, microscopic haematuria and hypertension that may lead to end-stage renal failure in the second to sixth decade of life. Fibronectin glomerulopathy may present at different ages, although mostly in adolescence or early adulthood, with typical features of a nephrotic syndrome including hypertension. Clustering of the disease within families indicates a genetic origin. In 40% of families, the disease is caused by heterozygous mutations in the FN1 gene (2q34) encoding fibronectin. Whole-genome linkage analysis in a large pedigree showed another disease locus on 1q32, however no specific candidate genes has been identified so far. Segregation with disease appearance in successive generations is consistent with an autosomal dominant pattern of inheritance with age-related penetrance.|SNOMEDCT_US|N|
C3888123|Autosomal dominant deafness-50 is a form of nonsyndromic hearing loss. Hearing impairment shows postlingual onset and is progressive (summary by Mencia et al., 2009).|OMIM|N|
C3888124|Mutations in the CRYBB1 gene have been found to cause multiple types of cataract, which have been described as congenital nuclear, congenital nuclear with anterior and posterior Y-suture and polar opacities, and pulverulent.
The preferred title/symbol for this entry was formerly 'Cataract, Congenital Nuclear, Autosomal Recessive 3; CATCN3.'|OMIM|N|
C3888197|Low density lipoprotein (LDL) cholesterol level quantitative trait locus 3 (LDLCQ3) represents regulation of LDL cholesterol by 3-hydroxy-3-methylglutaryl-coenzyme A (HMG-CoA) reductase (HMGCR), the rate-limiting enzyme in the cholesterol biosynthesis pathway. HMGCR is inhibited by statins, a class of cholesterol-lowering drugs whose efficacy is influenced by variation in the HMGCR gene (summary by Yu et al., 2014).|OMIM|N|
C3888198|Bestrophinopathies, the spectrum of ophthalmic disorders caused by pathogenic variants in BEST1, are typically characterized by retinal degeneration. The four recognized phenotypes are the three autosomal dominant disorders: Best vitelliform macular dystrophy (BVMD), BEST1 adult-onset vitelliform macular dystrophy (AVMD), and autosomal dominant vitreoretinochoroidopathy (ADVIRC); and autosomal recessive bestrophinopathy (ARB). Onset is usually in the first decade (except AVMD in which onset is age 30 to 50 years). Slow visual deterioration is the usual course. Choroidal neovascularization can occur in rare cases. ADVIRC is also associated with panophthalmic involvement including nanophthalmos, microcornea, hyperopia, and narrow anterior chamber angle with angle closure glaucoma.|GeneReviews|N|
C3888204|Approximately 16% of the world population is predicted to have congenital deficiency of alpha-actinin-3 based on a common nonsense polymorphism in the ACTN3 gene. Expression of alpha-actinin-3 is limited to a subset of type 2 (fast) fibers. No disease phenotype is associated with this deficiency (North et al., 1999).|OMIM|N|
C3888208|A pure form of hereditary spastic paraplegia with onset in adolescence or early adulthood of slowly progressive spastic paraplegia, proximal muscle weakness of the lower extremities and small hand muscles, hyperreflexia, spastic gait and mild urinary compromise.|SNOMEDCT_US|N|
C3888209|A rare pure or complex form of hereditary spastic paraplegia with characteristics of onset in infancy of progressive lower limb spasticity, abnormal gait, increased deep tendon reflexes and extensor plantar responses that may be associated with intellectual disability. Additional signs such as contractures in the lower limbs, amyotrophy, clubfoot and optic atrophy, have also been reported. Caused by homozygous mutation in the NT5C2 gene on chromosome 10q24.|SNOMEDCT_US|N|
C3888210|Autosomal dominant deafness-58 (DFNA58) is characterized by postlingual sensorineural deafness, with tinnitus and vestibular dysfunction additionally present in some patients (summary by Lezirovitz et al., 2020).|OMIM|N|
C3888211|Myopia, or nearsightedness, is a refractive error of the eye. Light rays from a distant object are focused in front of the retina and those from a near object are focused in the retina; therefore distant objects are blurry and near objects are clear (summary by Kaiser et al., 2004).
For a discussion of genetic heterogeneity of susceptibility to myopia, see 160700.|OMIM|N|
C3888212|Seckel syndrome is a rare autosomal recessive disorder characterized by severe pre- and postnatal growth retardation, severe microcephaly with mental retardation, and specific dysmorphic features (Faivre et al., 2002).
For a general description and a discussion of genetic heterogeneity of Seckel syndrome, see 210600.|OMIM|N|
C3888239|Hirschsprung disease can occur in combination with other conditions, such as Waardenburg syndrome, type IV; Mowat-Wilson syndrome; or congenital central hypoventilation syndrome. These cases are described as syndromic. Hirschsprung disease can also occur without other conditions, and these cases are referred to as isolated or nonsyndromic.\n\nThere are two main types of Hirschsprung disease, known as short-segment disease and long-segment disease, which are defined by the region of the intestine lacking nerve cells. In short-segment disease, nerve cells are missing from only the last segment of the large intestine (colon). This type is most common, occurring in approximately 80 percent of people with Hirschsprung disease. For unknown reasons, short-segment disease is four times more common in men than in women. Long-segment disease occurs when nerve cells are missing from most of the large intestine and is the more severe type. Long-segment disease is found in approximately 20 percent of people with Hirschsprung disease and affects men and women equally. Very rarely, nerve cells are missing from the entire large intestine and sometimes part of the small intestine (total colonic aganglionosis) or from all of the large and small intestine (total intestinal aganglionosis).\n\nEnteric nerves trigger the muscle contractions that move stool through the intestine. Without these nerves in parts of the intestine, the material cannot be pushed through, causing severe constipation or complete blockage of the intestine in people with Hirschsprung disease. Other signs and symptoms of this condition include vomiting, abdominal pain or swelling, diarrhea, poor feeding, malnutrition, and slow growth. People with this disorder are at risk of developing more serious conditions such as inflammation of the intestine (enterocolitis) or a hole in the wall of the intestine (intestinal perforation), which can cause serious infection and may be fatal.\n\nHirschsprung disease is an intestinal disorder characterized by the absence of nerves in parts of the intestine. This condition occurs when the nerves in the intestine (enteric nerves) do not form properly during development before birth (embryonic development). This condition is usually identified in the first two months of life, although less severe cases may be diagnosed later in childhood.|MedlinePlus Genetics|N|
C3888244|Most characteristically, Aicardi-Goutières syndrome (AGS) manifests as an early-onset encephalopathy that usually, but not always, results in severe intellectual and physical disability. A subgroup of infants with AGS present at birth with abnormal neurologic findings, hepatosplenomegaly, elevated liver enzymes, and thrombocytopenia, a picture highly suggestive of congenital infection. Otherwise, most affected infants present at variable times after the first few weeks of life, frequently after a period of apparently normal development. Typically, they demonstrate the subacute onset of a severe encephalopathy characterized by extreme irritability, intermittent sterile pyrexias, loss of skills, and slowing of head growth. Over time, as many as 40% develop chilblain skin lesions on the fingers, toes, and ears. It is becoming apparent that atypical, sometimes milder, cases of AGS exist, and thus the true extent of the phenotype associated with pathogenic variants in the AGS-related genes is not yet known.|GeneReviews|N|
C3888271|Autosomal dominant distal hereditary motor neuronopathy-6 (HMND6) is a neurologic disorder characterized by onset of slowly progressive distal lower limb weakness and atrophy between the second and fourth decades of life. Weakness usually begins in the calf muscles and later involves more proximal muscles. The severity is variable, and some patients have difficulty walking or running. Most also have upper limb involvement, particularly of the triceps and intrinsic hand muscles. Some patients may lose independent ambulation later in the disease course. Sensory impairment is typically not present, and cognition and bulbar function are normal (summary by Sumner et al., 2013).
For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant distal HMN (dHMN), see HMND1 (182960).|OMIM|N|
C3888307|A form of hereditary cerebral hemorrhage with amyloidosis characterized by an age of onset of 45 years of age, progressive Alzheimer's disease-like dementia, and lobar intracerebral hemorrhage in some patients. This subtype is due to a mutation in the <i>APP</i> gene (21q21.2), encoding the beta-amyloid precursor protein. This mutation causes an increased accumulation of amyloid-beta protein in the walls of the arteries and capillaries of the meninges, cerebellar cortex and cerebral cortex, leading to the weakening and eventual rupture of these vessels.|ORDO|N|
C3888308|A form of hereditary cerebral hemorrhage with amyloidosis characterized by an age of onset of 50 years of age, dementia and lobar intracerebral hemorrhage. This subtype is due to a mutation in the <i>APP</i> gene (21q21.2), encoding the beta-amyloid precursor protein. This mutation causes an increased accumulation of amyloid-beta protein in the walls of the arteries and capillaries of the meninges, cerebellar cortex and cerebral cortex, leading to the weakening and eventual rupture of these vessels.|ORDO|N|
C3888309|A form of hereditary cerebral hemorrhage with amyloidosis characterized by age of onset between 50-66 years of age, memory impairment, myoclonic jerks, expressive dysphagia, short-stepped gait, personality changes, and lobar intracerebral hemorrhages. This subtype is due to a mutation in the <i>APP</i> gene (21q21.2), encoding the beta-amyloid precursor protein. This mutation causes an increased accumulation of amyloid-beta protein in the walls of the arteries and capillaries of the meninges, cerebellar cortex and cerebral cortex, leading to the weakening and eventual rupture of these vessels.|ORDO|N|
C3888310|An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 9p23-p21.2.|MONDO|N|
C3888317|Sialidosis type 2 (ST-2) is a rare lysosomal storage disease, and the severe, early onset form of sialidosis (see this term) characterized by a progressively severe mucopolysaccharidosis-like phenotype (coarse facies, dysostosis multiplex, hepatosplenomegaly), macular cherry-red spots as well as psychomotor and developmental delay. ST-2 displays a broad spectrum of clinical severity with antenatal/congenital, infantile and juvenile presentations.|ORPHANET|N|
C3888318|An instance of myositis that is caused by an inherited genomic modification in an individual, and has an unknown cause.|MONDO|N|
C3888337|Autosomal recessive deafness-96 (DFNB96) is a form of nonsyndromic sensorineural severe to profound hearing impairment with prelingual onset (summary by Ansar et al., 2011).|OMIM|N|
C3888338|Glaucomas are a group of common neurodegenerative diseases of the optic nerve and retinal ganglion cells, characterized by progressive cupping of the optic nerve head with resultant visual field loss. Elevated intraocular pressure (IOP) is a strong risk factor for glaucoma; however, glaucoma can occur at any IOP. The most common form of glaucoma in the US is primary open-angle glaucoma (POAG; see 137760). POAG that occurs with an IOP below an arbitrary threshold of 21 mm Hg is often termed 'normal tension glaucoma' (summary by Fingert et al., 2011).
For a discussion of genetic heterogeneity of primary open angle glaucoma, see 137760.|OMIM|N|
C3888339|Otosclerosis is a hearing disorder that is associated with disordered bone remodeling in the otic capsule. The bone remodeling can result in conductive, mixed, or sensorineural hearing loss as a result of stapes footplate fixation or cochlear involvement (summary by Schrauwen et al., 2011).|OMIM|N|
C3888355|Autosomal recessive deafness-93 is characterized by moderate to severe prelingual deafness and a distinctive U-shaped audiogram (Tabatabaiefar et al., 2011).|OMIM|N|
C3888385|Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by Steinberg et al., 2006).
For a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see 214100.
Individuals with PBDs of complementation group 8 (CG8, equivalent to CGA) have mutations in the PEX26 gene. For information on the history of PBD complementation groups, see 214100.|OMIM|N|
C3888388|A response indicating that something happens or happened most of the time.|NCI|N|
C3888401|Oculocutaneous albinism is a genetically heterogeneous disorder manifested as a loss of pigmentation in the eyes, skin, and hair (summary by Kausar et al., 2013).
For a general phenotypic description and a discussion of genetic heterogeneity of oculocutaneous albinism, see OCA1 (203100).|OMIM|N|
C3888523|An autoimmune form of uveitis (disease).|MONDO|N|
C3888532|A circumscribed inflammatory lesion associated with underlying ischemic disease.|NCI|N|
C3888580|Obstruction of the bowel by an advanced malignant tumor. It is a complication especially in patients with an advanced abdominal malignant tumor.|NCI|N|
C3888631|Diabetes mellitus caused by mutation(s) in a single gene, usually presenting in childhood or early adulthood.|NCI|N|
C3888924|Glycogen storage disease (GSD) due to acid maltase deficiency, classical infantile onset (AMDI), is the most severe form of glycogen storage disease due to acid maltase deficiency. Characterized by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties, it is potentially fatal.|SNOMEDCT_US|N|
C3889038|A form of spondyloarthritis in which the predominant symptom is back pain, and where radiographic sacroiliitis might or might not be present.|SNOMEDCT_US|N|
C3889047|A reaction characterizeds by capillary dilatation, leukocytic infiltration, redness, heat, pain, swelling localized to the in the intestinal tract.|HPO|N|
C3889124|A response indicating that something occurs with little frequency or intensity.|NCI|N|
C3889136|An autoinflammatory disease caused by mutations in the TNFRSF1A gene coding for tumor necrosis factor receptor 1 (TNFR1). This results in attacks of fever, rash, peritoneal, pleural, or pericardial serositis and/or synovial inflammation along with increased acute phase reactants. Complications may include amyloidosis.|NCI|N|
C3889261|A disciplinary action has been taken against a license but its status is different from active, suspended, revoked, or resolved.|NCI|N|
C3889290|Severe - symptoms or pathological characteristics include somnolence with some arousability, inability to perform mental tasks, disorientation about time and place, marked confusion, amnesia, occasional fits of rage, present but incomprehensible speech. (Adapted from: Hepatic Encephalopathy. David C Wolf. http://emedicine.medscape.com/article/186101-overview.)|NCI|N|
C3889292|Mild - symptoms or pathological characteristics include trivial lack of awareness, shortened attention span, impaired ability to perform addition or subtraction, hypersomnia, insomnia, or inversion of sleep pattern, euphoria, depression or irritability, mild confusion, slowing of ability to perform mental tasks. (Adapted from: Hepatic Encephalopathy. David C Wolf. http://emedicine.medscape.com/article/186101-overview.)|NCI|N|
C3889474|Bardet-Biedl syndrome-16 (BBS16) is an autosomal recessive ciliopathy characterized by retinal degeneration, obesity, renal disease, and cognitive impairment. Although polydactyly is considered a primary feature of BBS overall, it has not been reported in any BBS16 patient (Billingsley et al., 2012).
For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (209900).|OMIM|N|
C3889475|Bardet-Biedl syndrome-19 (BBS19) is an autosomal recessive ciliopathy characterized by obesity, impaired intellectual development, polydactyly, renal failure, retinitis pigmentosa, and hypogonadism (Aldahmesh et al., 2014).
For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (209900).|OMIM|N|
C3889476|A group of genetically-determined conditions characterized by a wide spectrum of seizure types occurring in otherwise healthy newborn infants that start during the first week of life and spontaneously disappear between the first and twelfth months of life.|NCI|N|
C3889636|Spinocerebellar ataxia type 37 (SCA37) is characterized by adult onset, dysarthria, slowly progressive gait and limb ataxia with severe dysmetria in the lower extremities, mild dysmetria in the upper extremities, dysphagia, and abnormal ocular movements (dysmetric vertical saccades, irregular and slow vertical smooth pursuit, slow vertical optokinetic nystagmus, and oscillopsia (visual disturbance in which objects appear to oscillate). In most individuals, the initial signs/symptoms include falls, dysarthria, or clumsiness followed by a complete cerebellar syndrome. A distinctive clinical feature is the presence of altered vertical eye movements in early stages of the disease, even preceding ataxia symptoms. Clinical progression is slow and affected individuals usually become wheelchair bound between ten and 33 years after disease onset.|GeneReviews|N|
C3889979|Fevers of unknown etiology recurring over months or years.|NCI|N|
C3890167|X-linked intellectual developmental disorder-100 (XLID100) is an X-linked recessive disorder characterized by a neurodevelopmental phenotype with impaired intellectual development with or without epilepsy. The phenotypic spectrum also includes hydrocephalus, either isolated or associated with other congenital anomalies, predominantly of the brain, kidneys, and urinary tract (summary by Kalantari et al., 2021).|OMIM|N|
C3890168|Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the MID2 gene.|MONDO|N|
C3890176|A category of juvenile idiopathic arthritis defined by the presence of arthritis with a personal or family history of psoriasis, and features such as dactylitis and nail dystrophy.|NCI|N|
C3890205|A rare form of polyarticular juvenile idiopathic arthritis characterized by childhood-onset chronic arthritis of unknown cause involving five or more joints at disease onset and absence of rheumatoid factor IgM.|ORDO|N|
C3890401|Minimal - symptoms or pathological characteristics include minimal hepatic encephalopathy, lack of detectable changes in personality or behavior, minimal changes in memory, concentration and intellectual function, and absence of coordination asterixis. (Adapted from: Hepatic Encephalopathy. David C Wolf. http://emedicine.medscape.com/article/186101-overview)|NCI|N|
C3890422|A constellation of symptoms lasting months to years reported by some Lyme disease patients who had undergone previous antibiotic therapy.|NCI|N|
C3890429|A malignant tumor that originates from myeloid or lymphoid cells i.e., leukemias and lymphomas.|NCI|N|
C3890554|A sedentary activity level.|NCI|N|
C3890580|An electrocardiographic finding showing no cardiac electrical activity on the monitor or printed strip for the entire duration of the recording. (CDISC)|NCI|N|
C3890591|The nephronophthisis (NPH) phenotype is characterized by reduced renal concentrating ability, chronic tubulointerstitial nephritis, cystic renal disease, and progression to end-stage renal disease (ESRD) before age 30 years. Three age-based clinical subtypes are recognized: infantile, juvenile, and adolescent/adult. Infantile NPH can present in utero with oligohydramnios sequence (limb contractures, pulmonary hypoplasia, and facial dysmorphisms) or postnatally with renal manifestations that progress to ESRD before age 3 years. Juvenile NPH, the most prevalent subtype, typically presents with polydipsia and polyuria, growth retardation, chronic iron-resistant anemia, or other findings related to chronic kidney disease (CKD). Hypertension is typically absent due to salt wasting. ESRD develops at a median age of 13 years. Ultrasound findings are increased echogenicity, reduced corticomedullary differentiation, and renal cysts (in 50% of affected individuals). Histologic findings include tubulointerstitial fibrosis, thickened and disrupted tubular basement membrane, sporadic corticomedullary cysts, and normal or reduced kidney size. Adolescent/adult NPH is clinically similar to juvenile NPH, but ESRD develops at a median age of 19 years. Within a subtype, inter- and intrafamilial variability in rate of progression to ESRD is considerable. Approximately 80%-90% of individuals with the NPH phenotype have no extrarenal features (i.e., they have isolated NPH); ~10%-20% have extrarenal manifestations that constitute a recognizable syndrome (e.g., Joubert syndrome, Bardet-Biedl syndrome, Jeune syndrome and related skeletal disorders, Meckel-Gruber syndrome, Senior-Løken syndrome, Leber congenital amaurosis, COACH syndrome, and oculomotor apraxia, Cogan type).|GeneReviews|N|
C3890598|An ultrastructural finding in adipose tissue that indicates macrophage infiltration to sites of adipocyte necrosis.|NCI|N|
C3890602|The sensation of acute or chronic suffering in a body region.|NCI|N|
C3890719|An electrocardiographic recording that demonstrates an R-R interval that exceeds a predefined duration threshold, irrespective of the underlying rhythm.|NCI|N|
C3890733|A rare form of juvenile idiopathic arthritis characterized by distal and symmetrical polyarthritis (more than 5 joints) with presence of rheumatoid factor and possible evolution towards the appearance of erosions and joint destruction.|ORDO|N|
C3890735|The disappearance of all signs of cancer in response to treatment, accompanied by incomplete platelet recovery (platelet count is less than 100,000/uL).|NCI|N|
C3890737|A group of disorders of the innate immune system characterized by attacks of seemingly unprovoked inflammation without significant levels of either autoantibodies or autoreactive T cells more characteristic of autoimmune disease.|NCI|N|
C3890941|A pure motor axonal form of Guillain-Barré syndrome that presents with rapid onset of muscle weakness and absent reflexes. The clinical course tends to be more severe than in the more frequent, demyelinating form of Guillain-Barré syndrome. In the majority of cases, this disease occurs following Campylobacter jejuni infection, in particular following infection with strains of C jejuni that cause enteritis.|SNOMEDCT_US|N|
C3891157|An electrocardiographic finding of an escape beat following a pause that originates at the AV junction; this manifests as a QRS complex of supraventricular origin not immediately preceded by a P wave. (CDISC)|NCI|N|
C3891301|Wilms tumor is the most common renal tumor of childhood, occurring with an incidence of 1 in 10,000. It is often described as an embryonal tumor, as it arises from embryonal cells in which growth and/or differentiation have become dysregulated during development (summary by Mahamdallie et al., 2015).
For a general phenotypic description and discussion of genetic heterogeneity of Wilms tumor, see WT1 (194070).|OMIM|N|
C3891404|Digestive system neuroendocrine tumor G1 that has spread to other anatomic sites.|NCI|N|
C3891452|Seckel syndrome is a rare autosomal recessive disorder characterized by intrauterine growth retardation, dwarfism, microcephaly with mental retardation, and a characteristic 'bird-headed' facial appearance (summary by Shanske et al., 1997).
For a discussion of genetic heterogeneity of Seckel syndrome, see SCKL1 (210600).|OMIM|N|
C3891556|X-linked acrogigantism is the occurrence of pituitary gigantism in an individual heterozygous or hemizygous for a germline or somatic duplication of GPR101. X-linked acrogigantism is characterized by acceleration of linear growth in early childhood – in most cases during the first two years of life – due to growth hormone (GH) excess. Most individuals with X-linked acrogigantism present with associated hyperprolactinemia due to a mixed GH- and prolactin-secreting pituitary adenoma with or without associated hyperplasia; less commonly they develop diffuse hyperplasia of the GH- and prolactin-secreting pituitary cells without a pituitary adenoma. Most affected individuals are females. Growth acceleration is the main presenting feature; other frequently observed clinical features include enlargement of hands and feet, coarsening of the facial features, and increased appetite. Neurologic signs or symptoms are rarely present. Untreated X-linked acrogigantism can lead to markedly increased stature, with obvious severe physical and psychological sequelae.|GeneReviews|N|
C3891714|A rare neoplastic disorder characterized by benign metastatic masses increasing in size and number after chemotherapy for non-seminomatous germ cell tumors of testis or ovary. It may present at any time after chemotherapy, with a median occurrence within 24 months after treatment completion. Per definition, the resected specimen exclusively contains mature teratoma components, and serum tumor markers have normalized. The retroperitoneum is the most common site, although almost any other localization has been reported. Increased tumor size may cause mechanical compression of vital organs, with renal dysfunction, bowel ischemia and biliary obstruction as major complications.|SNOMEDCT_US|N|
C3891813|A response indicating that an individual has or had no pain.|NCI|N|
C3891815|Acute inflammation of one or more joints caused by the presence of pus within the joint cavity.|NCI|N|
C3891828|In some cases, people with permanent neonatal diabetes mellitus also have certain neurological problems, including developmental delay and recurrent seizures (epilepsy). This combination of developmental delay, epilepsy, and neonatal diabetes is called DEND syndrome. Intermediate DEND syndrome is a similar combination but with milder developmental delay and without epilepsy.\n\nIndividuals with permanent neonatal diabetes mellitus experience slow growth before birth (intrauterine growth retardation). Affected infants have hyperglycemia and an excessive loss of fluids (dehydration) and are unable to gain weight and grow at the expected rate (failure to thrive).\n\nA small number of individuals with permanent neonatal diabetes mellitus have an underdeveloped pancreas. Because the pancreas produces digestive enzymes as well as secreting insulin and other hormones, affected individuals experience digestive problems such as fatty stools and an inability to absorb fat-soluble vitamins.\n\nPermanent neonatal diabetes mellitus is a type of diabetes that first appears within the first 6 months of life and persists throughout the lifespan. This form of diabetes is characterized by high blood sugar levels (hyperglycemia) resulting from a shortage of the hormone insulin. Insulin controls how much glucose (a type of sugar) is passed from the blood into cells for conversion to energy.|MedlinePlus Genetics|N|
C3892039|BBS5 is a ciliopathy associated with severe and early-onset retinal dystrophy, postaxial polydactyly, obesity, renal dysfunction, hypogonadism, and learning difficulties (summary by Scheidecker et al., 2015). Patients described by Young et al. (1999) and Moore et al. (2005) with mutations in the BBS5 gene did not have polydactyly. The contribution of BBS5 mutations to all cases of BBS has been estimated at 2% (Li et al., 2004) and 0.40% (Zaghloul and Katsanis, 2009).
For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (209900).|OMIM|N|
C3892044|A type of arthritis that affects up to four joints in the first six months of disease.|HPO|N|
C3892045|A malignant neoplasm of the central nervous system arising from oligodendrocytes.|NCI|N|
C3892048|TBC1D24-related disorders comprise a continuum of features that were originally described as distinct, recognized phenotypes: DOORS syndrome (deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures). Profound sensorineural hearing loss, onychodystrophy, osteodystrophy, intellectual disability / developmental delay, and seizures. Familial infantile myoclonic epilepsy (FIME). Early-onset myoclonic seizures, focal epilepsy, dysarthria, and mild-to-moderate intellectual disability. Progressive myoclonus epilepsy (PME). Action myoclonus, tonic-clonic seizures, progressive neurologic decline, and ataxia. Early-infantile epileptic encephalopathy 16 (EIEE16). Epileptiform EEG abnormalities which themselves are believed to contribute to progressive disturbance in cerebral function. Autosomal recessive nonsyndromic hearing loss, DFNB86. Profound prelingual deafness. Autosomal dominant nonsyndromic hearing loss, DFNA65. Slowly progressive deafness with onset in the third decade, initially affecting the high frequencies.|GeneReviews|N|
C3892049|Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the GRXCR2 gene.|MONDO|N|
C3892050|Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the EPS8 gene.|MONDO|N|
C3896578|A rare hereditary nonpolyposis colon cancer defined in individuals meeting the Amsterdam criteria for Lynch syndrome, but lacking germline mutations in the mismatch repair genes. It is characterized by a later onset, preferential involvement of distal colon and rectum, lower risk of developing extracolonic cancer, a higher adenoma/carcinoma ratio, a higher differentiation of tumor cells, a more heterogeneous tumor architecture and an infiltrative growth pattern when compared to Lynch syndrome cases.|SNOMEDCT_US|N|
C3896584|Birth weight less than 750 grams.|NCI|N|
C3896639|Bleeding into the brain tissue adjacent to the lateral cerebral ventricles of newborn infant.|NCI|N|
C3896643|Development of diabetes after transplant, usually associated with calcineurin inhibitor use.|NCI|N|
C3896653|Chronic, diffuse, non-inflammatory musculoskeletal pain disorder associated with fatigue and sleep disturbance that can occur in childhood and adolescence. Tender points are not necessary to make the diagnosis, but if present may be less numerous than found in adults.|NCI|N|
C3896960|Pre-B acute lymphoblastic leukemia that occurs during childhood.|NCI|N|
C3896961|Pre-B acute lymphoblastic leukemia that occurs during adulthood.|NCI|N|
C3896964|Side effects of cancer treatment occurring a long time after the treatment was completed.|NCI|N|
C3896969|A rare endometrial carcinoma characterized by the presence of both malignant glandular and malignant squamous cellular components.|NCI|N|
C3896972|An indication as to whether repeat revascularization of a lesion occurred.|NCI|N|
C3896988|A bilateral visual field defect on opposite sides of the visual space of each eye (right or left).|NCI|N|
C3897004|A focal intestinal perforation without a definite cause, commonly located in the terminal ileum, lacking the transmural inflammation and/or pneumatosis typically seen in necrotizing enterocolitis.|NCI|N|
C3897007|Infection in the first month of life caused by the Herpes simplex virus.|NCI|N|
C3897021|A finding of oligoastrocytoma in childhood that has not been treated.|NCI|N|
C3897030|An indication that a record that is considered to be the accepted and final evaluation.|NCI|N|
C3897032|Infection of an infant from seven days to three months of life caused by Group B Streptococcus (Streptococcus agalactiae).|NCI|N|
C3897042|A rare slowly progressive form of systemic mastocytosis (SM) with characteristics of gradual accumulation of neoplastic mast cells in the visceral organs. Patients typically present with splenomegaly, hypercellular marrow and in most cases urticaria pigmentosa-like skin lesions. Although the aetiology is not fully understood, an activating mutation of KIT, usually KIT D816V, is found in the mast cells of virtually all cases. This mutation probably accounts for the abnormal accumulation of mast cells in organs/tissues.|SNOMEDCT_US|N|
C3897045|A rare genetic deficiency characterized by mutations in the SHOX gene and reduced expression or function of the SHOX protein. It results in the disruption of normal bone development and growth starting before birth. It manifests with skeletal abnormalities and short stature.|NCI|N|
C3897049|Meconium staining of the fetal membrane.|NCI|N|
C3897054|An indication of whether the subject has died.|NCI|N|
C3897055|Bleeding within the subarachnoid space occurring during labor and/or delivery.|NCI|N|
C3897060|The development of secondary sexual characteristics contrary to pre-pubertal phenotype (feminization in boys; virilization in girls).|NCI|N|
C3897061|Growth hormone deficiency the cause of which is present at birth.|NCI|N|
C3897062|An injury sustained during the birthing process in which the continuity is broken in the skull.|NCI|N|
C3897068|A pineal parenchymal cell neoplasm that occurs during childhood.|NCI|N|
C3897069|A rare malignant small intestinal neoplasm that occurs during childhood.|NCI|N|
C3897070|Gliomatosis cerebri that occurs during childhood.|NCI|N|
C3897071|A rare breast carcinoma that occurs during childhood.|NCI|N|
C3897073|Reduced or abnormal sight in the central visual field.|NCI|N|
C3897082|Stage IVA includes: Any T, Any N, M1a. M1a: Metastasis confined to one organ or site (e.g., liver, lung, ovary, nonregional node). (AJCC 7th ed.)|NCI|N|
C3897083|Stage IV includes: Any T, Any N, M1. M1: Distant metastasis (excludes peritoneal metastasis). (AJCC 7th Ed.)|NCI|N|
C3897084|Stage IIIA includes: For squamous cell carcinoma: (T1-2, N2, M0, Any G, Tumor location: Any); (T3, N1, M0, Any G, Tumor location: Any); (T4a, N0, M0, Any G, Tumor location: Any). T1: Tumor invades lamina propria, muscularis mucosae, or submucosa. T2: Tumor invades muscularis propria. T3: Tumor invades adventitia. T4a: Resectable tumor invading pleura, pericardium, or diaphragm. N0: No regional lymph node metastasis. N1: Metastasis in 1-2 regional lymph nodes. N2: Metastasis in 3-6 regional lymph nodes. M0: No distant metastasis. Tumor location: Location of the primary cancer site is defined by the position of the upper (proximal) edge of the tumor in the esophagus. For adenocarcinoma: (T1-2, N2, M0, Any G); (T3, N1, M0, Any G); (T4a, N0, M0, Any G). T1: Tumor invades lamina propria, muscularis mucosae, or submucosa. T2: Tumor invades muscularis propria. T3: Tumor invades adventitia. T4a: Resectable tumor invading pleura, pericardium, or diaphragm. N0: No regional lymph node metastasis. N1: Metastasis in 1-2 regional lymph nodes. N2: Metastasis in 3-6 regional lymph nodes. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C3897085|Stage IIC includes: T4b, N0, M0. T4b: Tumor directly invades or is adherent to other organs or structures. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C3897086|Increased production of androgens by the ovaries.|NCI|N|
C3897100|A cytogenetic abnormality that refers to the translocation of an FGFR family gene to a new chromosomal location.|NCI|N|
C3897104|Specifies whether the pharmacokinetic concentration result values should be excluded from the statistical analysis.|NCI|N|
C3897106|A response indicating that something occurs with a bit less frequency or intensity as previously.|NCI|N|
C3897107|The permanent failure of bone to heal, commonly due to a fracture or an osteotomy.|NCI|N|
C3897108|Idiopathic tall stature in a child when neither parent is tall in stature.|NCI|N|
C3897121|The reemergence of protoplasmic astrocytoma in childhood after a period of remission.|NCI|N|
C3897124|Early hepatocellular carcinoma. Patients are candidates for radical therapies (resection, liver transplantation, or percutaneous treatments). (HPB (Oxford) 2005; 7(1):35-41)|NCI|N|
C3897138|A translocation between chromosome 9 and chromosome 22 that may be associated with Philadelphia chromosome and increased susceptibility to several types of leukemia.|NCI|N|
C3897139|A cytogenetic abnormality that involves a translocation between chromosomes 8 and 21.|NCI|N|
C3897140|A cytogenetic abnormality that refers to the translocation involving the genes CIC (capicua transcriptional suppressor) on chromosome 19 and DUX4 (double homeobox 4) on chromosome 4 resulting in CIC-DUX4 fusion.|NCI|N|
C3897141|A chromosomal translocation involving chromosome 1 and chromosome 14.|NCI|N|
C3897142|A chromosomal translocation involving chromosome 14 and chromosome 20.|NCI|N|
C3897143|A cytogenetic abnormality that refers to the translocation involving the genes CIC (capicua transcriptional suppressor) on chromosome 19 and DUX4L (double homeobox 4-like) on chromosome 10 resulting in CIC-DUX4L fusion.|NCI|N|
C3897144|A chromosomal inversion that involves chromosome 16.|NCI|N|
C3897145|A chromosomal inversion that involves chromosome 16. It is associated with the development of acute myeloid leukemia CBFB-MYH11, acute myelomonocytic leukemia with abnormal eosinophils, and granulocytic sarcoma.|NCI|N|
C3897158|A finding of a worsening decrease in blood supply to the vital organs.|NCI|N|
C3897170|Focal areas of necrosis, with or without cysts, and diffuse areas of white matter dysmaturation with maturation arrest of the pre-oligodendroglia cells, located in the cerebral white matter.|NCI|N|
C3897171|A description of the diagnostic criterion that the subject fulfilled in order to establish a medical diagnosis.|NCI|N|
C3897172|A finding of rapid weight gain due to fluid retention.|NCI|N|
C3897186|The level of awareness of an organism during a vital signs assessment.|NCI|N|
C3897188|An indication as to whether repeat revascularization of an artery containing a lesion occurred.|NCI|N|
C3897189|An indication as to whether an artery is patent (free of TLR or restenosis) following intervention.|NCI|N|
C3897190|An indication as to whether vessel occlusion occurred 48 hours after a coronary artery bypass graft procedure|NCI|N|
C3897191|An indication as to whether vessel failure occurred.|NCI|N|
C3897199|Ischemic or hemorrhagic stroke resulting from cerebral venous thrombosis.|NCI|N|
C3897205|A fetal blood vessel in the placental membranes that extends from the cord insertion to the chorionic plate.|NCI|N|
C3897209|A change in the nucleotide sequence of the VHL gene.|NCI|N|
C3897210|A focus of thrombus adhered to the wall of an uteroplacental vessel.|NCI|N|
C3897211|The degeneration of an uteroplacental vessel with or without medial foamy macrophages.|NCI|N|
C3897214|Extravasation of urine outside the urinary collecting system.|NCI|N|
C3897216|The weight of the placenta after delivery, with membranes intact and some length of the umbilical cord attached, to the nearest gram, before draining the blood from the specimen.|NCI|N|
C3897217|A finding of metastatic squamous cell carcinoma to neck with occult primary that has not been treated.|NCI|N|
C3897218|A finding of hematopoietic or lymphoid cell neoplasm that has not been treated.|NCI|N|
C3897219|A finding of subependymal giant cell astrocytoma in childhood that has not been treated.|NCI|N|
C3897220|A finding of childhood rhabdomyosarcoma that has not been treated.|NCI|N|
C3897221|A finding of protoplasmic astrocytoma in childhood that has not been treated.|NCI|N|
C3897222|A finding of pleomorphic xanthoastrocytoma in childhood that has not been treated.|NCI|N|
C3897223|A finding of pilomyxoid astrocytoma in childhood that has not been treated.|NCI|N|
C3897224|A finding of pilocytic astrocytoma in childhood that has not been treated.|NCI|N|
C3897225|A finding of oligodendroglioma in childhood that has not been treated.|NCI|N|
C3897226|A finding of myeloid neoplasm in childhood that has not been treated.|NCI|N|
C3897227|A finding of childhood low grade astrocytic tumor that has not been treated.|NCI|N|
C3897228|A finding of childhood high grade astrocytic tumor that has not been treated.|NCI|N|
C3897229|A finding of gliosarcoma in childhood that has not been treated.|NCI|N|
C3897230|A finding of gliomatosis cerebri in childhood that has not been treated.|NCI|N|
C3897231|A finding of glioblastoma in childhood that has not been treated.|NCI|N|
C3897232|A finding of giant cell glioblastoma in childhood that has not been treated.|NCI|N|
C3897233|A finding of gemistocytic astrocytoma in childhood that has not been treated.|NCI|N|
C3897234|A finding of fibrillary astrocytoma in childhood that has not been treated.|NCI|N|
C3897235|A finding of diffuse astrocytoma in childhood that has not been treated.|NCI|N|
C3897236|A finding of cerebral astrocytoma in childhood that has not been treated.|NCI|N|
C3897237|A finding of anaplastic oligodendroglioma in childhood that has not been treated.|NCI|N|
C3897238|A finding of anaplastic oligoastrocytoma in childhood that has not been treated.|NCI|N|
C3897239|A finding of anaplastic astrocytoma in childhood that has not been treated.|NCI|N|
C3897240|A finding of central nervous system neoplasm that has not been treated.|NCI|N|
C3897244|The typical uniform coloring of the placental parenchyma irrespective of gestational age.|NCI|N|
C3897245|A category of juvenile idiopathic arthritis that does not fulfill any single category or has criteria for more than one category.|NCI|N|
C3897246|An electrocardiographic finding of a cardiac rhythm whose mechanism cannot be determined from the ECG. (CDISC)|NCI|N|
C3897248|A neutrophilic infiltrate arising from fetal vessels of the umbilical cord into the umbilical vessel wall and oriented towards the amniotic cavity.|NCI|N|
C3897250|Change in umbilical cord color resulting from postmortem changes. It indicates fetal death occurred at least 6 hours prior to delivery.|NCI|N|
C3897251|The longest measured width of the umbilical cord.|NCI|N|
C3897271|The outcome of the tumor results assessment as originally received or collected.|NCI|N|
C3897281|The standard character or string for representation and reporting of tumor results data.|NCI|N|
C3897282|An indication or description of a record that is considered to be the accepted and final evaluation for the tumor result.|NCI|N|
C3897284|A tumor where the greatest dimension is less than or equal to 2.0 cm.|NCI|N|
C3897290|The outcome of the tumor identification assessment as originally received or collected.|NCI|N|
C3897300|An indication or description of a record that is considered to be the accepted and final evaluation for the tumor identification.|NCI|N|
C3897301|A tumor where the greatest dimension is greater than or equal to 2.1 cm.|NCI|N|
C3897309|The outcome of the tumor findings assessment as originally received or collected.|NCI|N|
C3897316|An indication or description of a correlation between death and a tumor finding.|NCI|N|
C3897320|A finding obtained using FDG-PET imaging demonstrating the disappearance of metabolic tumor activity in target and non-target lesions, marked by a decrease in tumor standardized uptake value to the level of surrounding normal tissue.|NCI|N|
C3897325|The weight of the trimmed placenta to the nearest gram, with membranes severed at the disc edge and the umbilical cord cut to within 1 cm of insertion, after draining the blood from the specimen.|NCI|N|
C3897347|A disorder of decreased production of parathyroid hormone by the parathyroid gland in a newborn. It is due to maternal hyperparathyroidism. It may be characterized by hypocalcemic seizures in the first weeks of life.|NCI|N|
C3897348|A condition in a newborn characterized by a temporary decrease in right ventricular and/or left ventricular output.|NCI|N|
C3897350|Tics that are secondary to an identifiable cause.|NCI|N|
C3897366|Disruption of the tentorium cerebelli incurred during delivery.|NCI|N|
C3897377|A change in the nucleotide sequence of the TSC2 gene.|NCI|N|
C3897378|A change in the nucleotide sequence of the TSC1 gene.|NCI|N|
C3897380|A change in the nucleotide sequence of the TP53 gene.|NCI|N|
C3897422|An indication as to whether the subject had symptoms related to the clinical event of interest.|NCI|N|
C3897423|An electrocardiographic recording that demonstrates two sequential premature atrial complexes.|NCI|N|
C3897438|The outcome of the subject status assessment as originally received or collected.|NCI|N|
C3897447|Bleeding in the potential space between the skull periosteum and the scalp galea aponeurosis of a newborn infant due to shearing forces on the tentorium and deep venous system during labor and delivery.|NCI|N|
C3897448|Bleeding within the subdural space occurring during labor and/or delivery.|NCI|N|
C3897450|A collection of blood between the renal capsule and the renal parenchyma.|NCI|N|
C3897451|A focus of necrotic placental parenchyma with moderate hyalinization and fibrosis with partial absence of the necrotic chorionic villi, which is frequently 3-5 days of duration.|NCI|N|
C3897452|A focus of maternal thrombus within the placental intervillous space, often with peripheral villous compression, which is 3-5 days in age.|NCI|N|
C3897492|Disruption of the sternocleidomastoid muscle incurred during delivery.|NCI|N|
C3897493|The formation of a blood clot of a vessel or heart chamber after and due to the placement of a stent.|NCI|N|
C3897506|Stage IVC includes: Any T, Any N, M1. M1: Distant metastasis. (AJCC 7th ed.)|NCI|N|
C3897507|Stage IVC includes: Any T, Any N, M1. M1: Distant metastasis. (AJCC 7th ed.)|NCI|N|
C3897508|Stage IVC includes: Any T, Any N, M1. M1: Distant metastasis. (AJCC 7th ed.)|NCI|N|
C3897509|Stage IVC includes: Any T, Any N, M1. M1: Distant metastasis. (AJCC 7th ed.)|NCI|N|
C3897510|Stage IVC includes: Any T, Any N, M1. M1: Distant metastasis. (AJCC 7th ed.)|NCI|N|
C3897511|Stage IVB includes: T4b, Any N, M0. T4b: Very advanced disease. Tumor invades prevertebral fascia or encases carotid artery or mediastinal vessels. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C3897512|Stage IVB includes: T4b, Any N, M0. T4b: Very advanced disease. Tumor invades prevertebral fascia or encases carotid artery or mediastinal vessels. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C3897513|Stage IVB includes: Any T, Any N, M1b. M1b: Metastases in more than one organ/site or the peritoneum. (AJCC 7th ed.)|NCI|N|
C3897514|Stage IVB includes: (T4b, Any N, M0); (Any T, N3, M0). T4b: Tumor with very advanced local disease. Tumor invades lateral pterygoid muscle, pterygoid plates, lateral nasopharynx, or skull base or encases carotid artery. N3: Tumor with metastasis in a lymph node more than 6 cm in greatest dimension. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C3897515|Stage IVB includes: (T4b, Any N, M0); (Any T, N3, M0). T4b: Very advanced local disease. Tumor invades any of the following: orbital apex, dura, brain, middle cranial fossa, cranial nerves other than maxillary division of trigeminal nerve, nasopharynx, or clivus. N3: Metastasis in a lymph node, more than 6 cm in greatest dimension. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C3897516|Stage IVB includes: (Any T, N3, M0); (T4b, Any N, M0). T4b: Lip and oral cavity cancer with very advanced local disease. Tumor invades masticator space, pterygoid plates, or skull base and/or encases internal carotid artery. N3: Metastasis in a lymph node more than 6 cm in greatest dimension. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C3897517|Stage IVB includes: Any T, Any N, M1b. M1b: Metastases in more than one organ/site or the peritoneum. (AJCC 7th ed.)|NCI|N|
C3897518|Stage IVA includes: (T4a, N0, M0); (T4a, N1a, M0); (T1, N1b, M0); (T2, N1b, M0); (T3, N1b, M0); (T4a, N1b, M0). T4a: Moderately advanced local disease. Tumor of any size extending beyond the thyroid gland capsule to invade subcutaneous soft tissues, larynx, trachea, esophagus, or recurrent laryngeal nerve. T1: Tumor size 2 cm or less in greatest dimension, limited to the thyroid gland. T2: Tumor more than 2 cm but not more than 4 cm in greatest dimension, limited to the thyroid gland. T3: Tumor more than 4 cm in greatest dimension and limited to the thyroid gland, or tumor of any size with minimal extrathyroid extension (e.g., extension to sternothyroid muscle or perithyroid soft tissues). N0: No regional lymph node metastasis. N1a: Metastasis to pretracheal, paratracheal or prelaryngeal/Delphian lymph nodes (Level VI lymph nodes). N1b: Metastasis to unilateral, bilateral or contralateral cervical (Levels I, II, III, IV, or V) or retropharyngeal or superior mediastinal lymph nodes (Level VII). M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C3897519|Stage IVA includes: (T4a, N0, M0); (T4a, N1a, M0); (T1, N1b, M0); (T2, N1b, M0); (T3, N1b, M0); (T4a, N1b, M0). T4a: Moderately advanced local disease. Tumor of any size extending beyond the thyroid gland capsule to invade subcutaneous soft tissues, larynx, trachea, esophagus, or recurrent laryngeal nerve. T1: Tumor size 2 cm or less in greatest dimension, limited to the thyroid gland. T2: Tumor more than 2 cm but not more than 4 cm in greatest dimension, limited to the thyroid gland. T3: Tumor more than 4 cm in greatest dimension and limited to the thyroid gland, or tumor of any size with minimal extrathyroid extension (e.g., extension to sternothyroid muscle or perithyroid soft tissues). N0: No regional lymph node metastasis. N1a: Metastasis to pretracheal, paratracheal or prelaryngeal/Delphian lymph nodes (Level VI lymph nodes). N1b: Metastasis to unilateral, bilateral or contralateral cervical (Levels I, II, III, IV, or V) or retropharyngeal or superior mediastinal lymph nodes (Level VII). M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C3897520|Stage IVA includes: Any T, Any N, M1a. M1a: Metastasis confined to one organ or site (e.g., liver, lung, ovary, nonregional node). (AJCC 7th ed.)|NCI|N|
C3897521|Stage IVA includes: (T4a, N0, M0); (T4a, N1, M0); (T1, N2, M0); (T2, N2, M0); (T3, N2, M0); (T4a, N2, M0). T4a: Tumor with moderately advanced local disease. Tumor invades the larynx, extrinsic muscle of tongue, medial pterygoid, hard palate, or mandible. Mucosal extension to lingual surface of epiglottis from primary tumors of the base of the tongue and vallecula does not constitute invasion of larynx. T1: Tumor 2 cm or less in greatest dimension. T2: Tumor more than 2 cm but not more than 4 cm in greatest dimension. T3: Tumor measuring more than 4 centimeters in greatest dimension or extension to lingual surface of epiglottis. N0: No regional lymph node metastasis. N1: Metastasis in a single ipsilateral lymph node, 3 cm or less in greatest dimension. N2: Tumor with metastasis in a single ipsilateral lymph node, more than 3 cm but not more than 6 cm in greatest dimension, or in multiple ipsilateral lymph nodes, none more than 6 cm in greatest dimension, or in bilateral or contralateral lymph nodes, none more than 6 cm in greatest dimension. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C3897522|Stage IVA includes: (T4a, N0, M0); (T4a, N1, M0); (T1, N2, M0); (T2, N2, M0); (T3, N2, M0); (T4a, N2, M0); T4a: Maxillary sinus: Moderately advanced local disease. Tumor invades anterior orbital contents, skin of cheek, pterygoid plates, infratemporal fossa, cribriform plate, sphenoid or frontal sinuses. Nasal cavity and ethmoid sinus: Moderately advanced local disease. Tumor invades any of the following: anterior orbital contents, skin of nose or cheek, minimal extension to anterior cranial fossa, pterygoid plates, sphenoid or frontal sinuses. T1: Maxillary sinus: Tumor limited to the maxillary sinus mucosa with no erosion or destruction of bone. Nasal cavity and ethmoid sinus: Tumor restricted to any one subsite, with or without bony invasion. T2: Maxillary sinus: Tumor causing bone erosion or destruction including extension into the hard palate and/or middle nasal meatus, except extension to posterior wall of maxillary sinus and pterygoid plates. Nasal cavity and ethmoid sinus: Tumor invading two subsites in a single region or extending to involve an adjacent region within the nasoethmoidal complex, with or without bony invasion. T3: Maxillary sinus: Tumor invading any of the following: bone of the posterior wall of maxillary sinus, subcutaneous tissues, floor or medial wall of orbit, pterygoid fossa, or ethmoid sinuses. Nasal cavity and ethmoid sinus: Tumor invading the medial wall or floor of the orbit, maxillary sinus, palate, or cribriform plate. N0: No regional lymph node metastasis. N1: Metastasis in a single ipsilateral lymph node, 3 cm or less in greatest dimension. N2: Metastasis in a single ipsilateral lymph node, more than 3 cm but not more than 6 cm in greatest dimension, or in multiple ipsilateral lymph nodes, none more than 6 cm in greatest dimension, or in bilateral or contralateral lymph nodes, none more than 6 cm in greatest dimension. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C3897523|Stage IVA includes: (T4a, N0, M0); (T4a, N1, M0); (T1, N2, M0); (T2, N2, M0); (T3, N2, M0); (T4a, N2, M0). T4a: Lip and oral cavity cancer with moderately advanced local disease. Lip: Tumor invades through cortical bone, inferior alveolar nerve, floor of mouth, or skin of face, i.e., chin or nose. Oral cavity: Tumor invades adjacent structures only (e.g., through cortical bone [mandible or maxilla] into deep [extrinsic] muscle of tongue [genioglossus, hyoglossus, palatoglossus, and styloglossus], maxillary sinus, skin of face). T1: Tumor 2 cm or less in greatest dimension. T2: Tumor more than 2 cm but not more than 4 cm in greatest dimension. T3: Tumor more than 4 cm in greatest dimension. N0: No regional lymph node metastasis. N1: Metastasis in a single ipsilateral lymph node, 3 cm or less in greatest dimension. N2: Metastasis in a single ipsilateral lymph node, more than 3 cm but not more than 6 cm in greatest dimension; or in multiple ipsilateral lymph nodes, none more than 6 cm in greatest dimension; or in bilateral or contralateral lymph nodes, none more than 6 cm in greatest dimension. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C3897524|Ann Arbor Classification: Stage IV: Diffuse or disseminated involvement of one or more extralymphatic organs, with or without associated lymph node involvement; or isolated extralymphatic organ involvement in the absence of adjacent regional lymph node involvement, but in conjunction with disease in distant site(s); or any involvement of the liver or bone marrow, lungs (other than by direct extension from another site), or cerebrospinal fluid.|NCI|N|
C3897525|Stage IIIC includes: (T4a, N2a, M0); (T3-T4a, N2b, M0); (T4b, N1-N2, M0). T3: Tumor invades through the muscularis propria into pericolorectal tissues. T4a: Tumor penetrates to the surface of the visceral peritoneum. T4b: Tumor directly invades or is adherent to other organs or structures. N1: Metastasis in 1-3 regional lymph nodes. N2: Metastasis in four or more regional lymph nodes. N2a: Metastasis in 4-6 regional lymph nodes. N2b: Metastasis in seven or more regional lymph nodes. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C3897526|Stage IIIC includes: (T3c, N0, M0); (Any T, N1, M0). T3c: Peritoneal tumor beyond pelvis more than 2cm in greatest dimension and/or regional lymph node metastasis. N0: No regional lymph node metastasis. N1: Regional lymph node metastasis. M0: No distant metastasis. (AJCC 7th Ed.)|NCI|N|
C3897527|Stage IIIC includes: For squamous cell carcinoma: (T4a, N1-2, M0, Any G, Tumor location: Any); (T4b, Any N, M0, Any G, Tumor location: Any); (Any T, N3, M0, Any G, Tumor location: Any). T4a: Resectable tumor invading pleura, pericardium, or diaphragm. T4b: Unresectable tumor invading other adjacent structures, such as aorta, vertebral body, trachea, etc. N1: Metastasis in 1-2 regional lymph nodes. N2: Metastasis in 3-6 regional lymph nodes. N3: Metastasis in seven or more regional lymph nodes. M0: No distant metastasis. Tumor location: Location of the primary cancer site is defined by the position of the upper (proximal) edge of the tumor in the esophagus. For adenocarcinoma: (T4a, N1-2, M0, Any G); (T4b, Any N, M0, Any G); (Any T, N3, M0, Any G). T4a: Resectable tumor invading pleura, pericardium, or diaphragm. T4b: Unresectable tumor invading other adjacent structures, such as aorta, vertebral body, trachea, etc. N1: Metastasis in 1-2 regional lymph nodes. N2: Metastasis in 3-6 regional lymph nodes. N3: Metastasis in seven or more regional lymph nodes. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C3897528|Stage IIIB includes: (T3-T4a, N1/N1c, M0); (T2-T3, N2a, M0); (T1-T2, N2b, M0). T1: Tumor invades submucosa. T2: Tumor invades muscularis propria. T3: Tumor invades through the muscularis propria into pericolorectal tissues. T4a: Tumor penetrates to the surface of the visceral peritoneum. N1: Metastasis in 1-3 regional lymph nodes. N1c: Tumor deposit(s) in the subserosa, mesentery, or nonperitonealized pericolic or perirectal tissues without regional lymph node metastasis. N2a: Metastasis in 4-6 regional lymph nodes. N2b: Metastasis in seven or more regional lymph nodes. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C3897529|Stage IIIB includes: T3b, N0, M0. T3b: Macroscopic peritoneal tumor beyond pelvis 2 cm or less in greatest dimension. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 7th Ed.)|NCI|N|
C3897530|Stage IIIB includes: For squamous cell carcinoma: T3, N2, M0, Any G, Tumor location: Any. T3: Tumor invades adventitia. N2: Metastasis in 3-6 regional lymph nodes. M0: No distant metastasis. Tumor location: Location of the primary cancer site is defined by the position of the upper (proximal) edge of the tumor in the esophagus. For adenocarcinoma: T3, N2, M0, Any G. T3: Tumor invades adventitia. N2: Metastasis in 3-6 regional lymph nodes. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C3897531|Stage IIIA includes: (T1-T2, N1/N1c, M0); (T1, N2a, M0). T1: Tumor invades submucosa. T2: Tumor invades muscularis propria. N1: Metastasis in 1-3 regional lymph nodes. N1c: Tumor deposit(s) in the subserosa, mesentery, or nonperitonealized pericolic or perirectal tissues without regional lymph node metastasis. N2a: Metastasis in 4-6 regional lymph nodes. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C3897532|Stage IIIA includes: T3a, N0, M0. T3a: Microscopic peritoneal tumor beyond pelvis (no macroscopic tumor). N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 7th Ed.)|NCI|N|
C3897533|Stage III includes: T3, N0, M0. T3: Microscopically confirmed peritoneal tumor outside pelvis. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 7th Ed.)|NCI|N|
C3897534|Ann Arbor Classification: Stage III: Involvement of lymph node regions on both sides of the diaphragm (III), which also may be accompanied by extralymphatic extension in association with adjacent lymph node involvement (IIIE) or by involvement of the spleen (IIIS) or both (IIIE,S).|NCI|N|
C3897535|Stage IIC includes: T4b, N0, M0. T4b: Tumor directly invades or is adherent to other organs or structures. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C3897536|Stage IIB includes: T4a, N0, M0. T4a: Tumor penetrates to the surface of the visceral peritoneum. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C3897537|Stage IIA includes: T3, N0, M0. T3: Tumor invades through the muscularis propria into pericolorectal tissues. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C3897538|Stage II includes: T2, N0, M0. T2: Tumor more than 2 cm but not more than 4 cm in greatest dimension. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C3897539|Ann Arbor Classification: Stage II: Involvement of two or more lymph node regions on the same side of the diaphragm (II); or localized involvement of a single extralymphatic organ or site in association with regional lymph node involvement with or without involvement of other lymph node regions on the same side of the diaphragm (IIE).|NCI|N|
C3897540|Stage IB includes: For squamous cell carcinoma: (T1, N0, M0, G2-3, Tumor location: Any); (T2-3, N0, M0, G1, GX, Tumor location: Lower, X). T1: Tumor invades lamina propria, muscularis mucosae, or submucosa. T2: Tumor invades muscularis propria. T3: Tumor invades adventitia. N0: No regional lymph node metastasis. M0: No distant metastasis. G1: Well differentiated. GX: Grade cannot be assessed-stage grouping as G1. G2: Moderately differentiated. G3: Poorly differentiated. Tumor location: Location of the primary cancer site is defined by the position of the upper (proximal) edge of the tumor in the esophagus. For adenocarcinoma: (T1, N0, M0, G3); (T2, N0, M0, G1-2, GX). T1: Tumor invades lamina propria, muscularis mucosae, or submucosa. T2: Tumor invades muscularis propria. N0: No regional lymph node metastasis. M0: No distant metastasis. G1: Well differentiated. G2: Moderately differentiated. G3: Poorly differentiated. GX: Grade cannot be assessed-stage grouping as G1. (AJCC 7th ed.)|NCI|N|
C3897541|Stage IA includes: For squamous cell carcinoma: T1, N0, M0, G1, GX, Tumor location: Any. T1: Tumor invades lamina propria, muscularis mucosae, or submucosa. N0: No regional lymph node metastasis. M0: No distant metastasis. G1: Well differentiated. GX: Grade cannot be assessed-stage grouping as G1. Tumor location: Location of the primary cancer site is defined by the position of the upper (proximal) edge of the tumor in the esophagus. For adenocarcinoma: T1, N0, M0, G1-2, X. T1: Tumor invades lamina propria, muscularis mucosae, or submucosa. N0: No regional lymph node metastasis. M0: No distant metastasis. G1: Well differentiated. G2: Moderately differentiated. GX: Grade cannot be assessed-stage grouping as G1. (AJCC 7th ed.)|NCI|N|
C3897542|Ann Arbor Classification: Stage I: Involvement of a single lymph node region (I); or localized involvement of a single extralymphatic organ or site in the absence of any lymph node involvement (IE).|NCI|N|
C3897545|Disruption of the spleen incurred during delivery.|NCI|N|
C3897551|Showing some signs of deterioration or decline.|NCI|N|
C3897562|A condition in which a child who was born small for gestational age, fails to achieve a linear growth rate sufficient to restore height to within the normal range for the reference population.|NCI|N|
C3897563|Birth weight greater than two standard deviations below the mean for the reference population of the same sex and gestational age.|NCI|N|
C3897564|Birth weight and length greater than two standard deviations below the mean for the reference population of the same sex and gestational age.|NCI|N|
C3897565|Birth length greater than two standard deviations below the mean for the reference population of the same sex and gestational age.|NCI|N|
C3897566|Clinical course characterized by slow progression without signs of aggressive disease.|NCI|N|
C3897569|Weakness of extraocular muscle function as a result of inadequate securing of the muscle to the sclera during strabismus surgery.|NCI|N|
C3897585|The outcome of the skin response assessment as originally received or collected.|NCI|N|
C3897597|The standard character or string for representation and reporting of skin response data.|NCI|N|
C3897600|The space that occupies the distance between the shortest free edge of the fetal membranes and the disc edge.|NCI|N|
C3897615|A tic that involves one muscle or muscle group, or non-word sounds.|NCI|N|
C3897618|The length, in cm, of the shortest axis of the chorionic disc.|NCI|N|
C3897619|An electrocardiographic finding of a short or absent ST segment, resulting in a decreased QT interval, without changes in T wave morphology; this may be observed in hypercalcemia. (CDISC)|NCI|N|
C3897622|A subjective score of 9 on a scale that ranges from 0: Not Present to 10: As Bad as You Can Imagine.|NCI|N|
C3897623|A subjective score of 8 on a scale that ranges from 0: Not Present to 10: As Bad as You Can Imagine.|NCI|N|
C3897624|A subjective score of 7 on a scale that ranges from 0: Not Present to 10: As Bad as You Can Imagine.|NCI|N|
C3897625|A subjective score of 6 on a scale that ranges from 0: Not Present to 10: As Bad as You Can Imagine.|NCI|N|
C3897626|A subjective score of 5 on a scale that ranges from 0: Not Present to 10: As Bad as You Can Imagine.|NCI|N|
C3897627|A subjective score of 4 on a scale that ranges from 0: Not Present to 10: As Bad as You Can Imagine.|NCI|N|
C3897628|A subjective score of 3 on a scale that ranges from 0: Not Present to 10: As Bad as You Can Imagine.|NCI|N|
C3897629|A subjective score of 2 on a scale that ranges from 0: Not Present to 10: As Bad as You Can Imagine.|NCI|N|
C3897630|A subjective score of 1 on a scale that ranges from 0: Not Present to 10: As Bad as You Can Imagine.|NCI|N|
C3897631|A subjective score of 10 on a scale that ranges from 0: Not Present to 10: As Bad as You Can Imagine.|NCI|N|
C3897632|A subjective score of 0 on a scale that ranges from 0: Not Present to 10: As Bad as You Can Imagine.|NCI|N|
C3897648|A non-Hodgkin lymphoma that has spread to the central nervous system following the initial presentation in another nodal or extranodal site.|NCI|N|
C3897649|A Hodgkin lymphoma that has spread to the central nervous system following the initial presentation in another nodal or extranodal site.|NCI|N|
C3897661|A pathologic communication between the skin and the dural space that is located 5-25 mm from the anal verge.|NCI|N|
C3897693|A fetal blood vessel in the placental membranes that appears torn upon gross inspection of the placenta.|NCI|N|
C3897697|An ophthalmoscopic finding that refers to retinopathy of prematurity.|NCI|N|
C3897699|Any new or worsening ST or T wave changes present in two or more contiguous leads that occur when a patient is experiencing neither physical nor chemical stressors.|NCI|N|
C3897707|The outcome of the reproductive system findings assessment as originally received or collected.|NCI|N|
C3897711|An indication or description that reproductive system findings data is a derived value.|NCI|N|
C3897716|An indication or description that reproductive system findings data is a baseline value.|NCI|N|
C3897720|Thrombus formation within the arterial or venous system of a donor kidney post transplantation.|NCI|N|
C3897721|A focus of necrotic placental parenchyma with marked hyalinization and fibrosis with complete absence of the necrotic chorionic villi, which is frequently more than 7 days of duration.|NCI|N|
C3897722|A focus of maternal thrombus within the placental intervillous space, often with peripheral villous compression, which is at least 5-7 days in age.|NCI|N|
C3897729|Hodgkin lymphoma that occurs during childhood and is resistant to treatment.|NCI|N|
C3897731|The reemergence of primary peritoneal carcinoma after a period of remission.|NCI|N|
C3897732|The reemergence of pancreatic neuroendocrine carcinoma after a period of remission.|NCI|N|
C3897733|The reemergence of oropharyngeal undifferentiated carcinoma after a period of remission.|NCI|N|
C3897734|The reemergence of olfactory neuroblastoma after a period of remission.|NCI|N|
C3897735|The reemergence of a malignant extragonadal nongerminomatous germ cell tumor after a period of remission.|NCI|N|
C3897736|The reemergence of malignant extragonadal germ cell tumor after a period of remission.|NCI|N|
C3897737|The reemergence of inverted Schneiderian papilloma after a period of remission.|NCI|N|
C3897738|The reemergence of fallopian tube carcinoma after a period of remission.|NCI|N|
C3897739|The reemergence of extragonadal seminoma after a period of remission.|NCI|N|
C3897740|The reemergence of combined thymic epithelial neoplasm after a period of remission.|NCI|N|
C3897742|The reemergence of subependymal giant cell astrocytoma in childhood after a period of remission.|NCI|N|
C3897743|The reemergence of renal neoplasm in childhood after a period of remission.|NCI|N|
C3897744|The reemergence of pleomorphic xanthoastrocytoma in childhood after a period of remission.|NCI|N|
C3897745|The reemergence of pilomyxoid astrocytoma in childhood after a period of remission.|NCI|N|
C3897746|The reemergence of pilocytic astrocytoma in childhood after a period of remission.|NCI|N|
C3897747|The reemergence of oligodendroglioma in childhood after a period of remission.|NCI|N|
C3897748|The reemergence of oligoastrocytoma in childhood after a period of remission.|NCI|N|
C3897749|The reemergence of non-Hodgkin lymphoma in childhood after a period of remission.|NCI|N|
C3897750|The reemergence of gliosarcoma in childhood after a period of remission.|NCI|N|
C3897751|The reemergence of gliomatosis cerebri in childhood after a period of remission.|NCI|N|
C3897752|The reemergence of glioblastoma in childhood after a period of remission.|NCI|N|
C3897753|The reemergence of giant cell glioblastoma in childhood after a period of remission.|NCI|N|
C3897754|The reemergence of gemistocytic astrocytoma in childhood after a period of remission.|NCI|N|
C3897755|The reemergence of fibrillary astrocytoma in childhood after a period of remission.|NCI|N|
C3897756|The reemergence of diffuse astrocytoma in childhood after a period of remission.|NCI|N|
C3897757|The reemergence of childhood central nervous system embryonal neoplasm after a period of remission.|NCI|N|
C3897758|The reemergence of a childhood astrocytic tumor after a period of remission.|NCI|N|
C3897759|The reemergence of anaplastic oligodendroglioma in childhood after a period of remission.|NCI|N|
C3897760|The reemergence of anaplastic oligoastrocytoma in childhood after a period of remission.|NCI|N|
C3897761|The reemergence of anaplastic large cell lymphoma in childhood after a period of remission.|NCI|N|
C3897762|The reemergence of anaplastic astrocytoma in childhood after a period of remission.|NCI|N|
C3897763|The reemergence of borderline ovarian epithelial tumor after a period of remission.|NCI|N|
C3897775|A response indicating that something occurs with less frequency or intensity as previously.|NCI|N|
C3897776|An indication as to whether the device was set to correct for random noise generated by deflected positrons.|NCI|N|
C3897807|A response indicating that something happens or happened frequently.|NCI|N|
C3897810|Imaging findings consistent with increased intravascular blood volume in the lungs.|NCI|N|
C3897815|A carcinoma that arises from the proximal part of the urethra.|NCI|N|
C3897819|A type of hallucination that involves the perception of distorted or abnormal sensations related to one's body position or movement.|HPO|N|
C3897822|An indication as to whether the procedure is considered successful.|NCI|N|
C3897833|An indication or description of a procedure occurrence.|NCI|N|
C3897875|A fetus of 16-20 weeks gestational age that shows signs of life at birth but dies after delivery.|NCI|N|
C3897876|An abnormal accumulation of cerebrospinal fluid within the ventricles of the brain that occurs as a consequence of a central nervous system inflammation.|NCI|N|
C3897890|Three or more foci of two or more placental terminal villi showing karyorrhexis of fetal cells with preservation of the surrounding trophoblast. The villi may also show stromal hypercellularity and mineralization, and can either be hypovascular or only exhibit capillary degenerative changes. Entrapped red blood cells and red blood cell fragments are often seen.|NCI|N|
C3897891|Extravascular blood in the chorionic villi.|NCI|N|
C3897892|Increased density of placental villous stroma, often with decreased capillarization compared to what would be expected for gestational age.|NCI|N|
C3897893|Placental villous histology not typical of gestational age, with developmentally abnormal features.|NCI|N|
C3897894|The deposition of iron and/or calcium within the supporting tissues of the placenta.|NCI|N|
C3897895|Macroscopically identifiable placental parenchymal abnormality.|NCI|N|
C3897896|The presence of a small clot attached to the epithelial surface of a placental villus.|NCI|N|
C3897897|The measured or estimated height of the placental disc perpendicular to the chorionic and basal plates.|NCI|N|
C3897927|A description of the physical examination evidence of heart failure that can be classified as new or worsening.|NCI|N|
C3897928|A condition characterized by reduced or absent movement of the ipsilateral diaphragm as a consequence of an injury to the phrenic nerve or its origin in cervical roots 3 through 5 sustained during the birthing process.|NCI|N|
C3897934|An indication or description that pharmacokinetic concentration data is a baseline value.|NCI|N|
C3897936|A lingering, usually unpleasant, taste without the associated stimulus.|NCI|N|
C3897938|Oligoarticular juvenile idiopathic arthritis that never involves more than four separate joints after six months.|NCI|N|
C3897939|Persistent Mullerian duct syndrome due to deficiency of anti-Mullerian hormone.|NCI|N|
C3897940|Persistent Mullerian duct syndrome due to resistance to anti-Mullerian hormone (AMH), resulting from mutations in the AMH receptor (AMHR) gene.|NCI|N|
C3897942|Infection of the peritoneum related to a peritoneal dialysis catheter.|NCI|N|
C3897975|An electrocardiographic recording that demonstrates an R-R interval that exceeds three seconds, irrespective of the underlying rhythm.|NCI|N|
C3897980|Gynecomastia that is due to exogenous substances or disease processes.|NCI|N|
C3897990|A parietal decidual spiral vessel with small lumen caliber. The muscular wall of the vessel is not identifiable; its expected location shows foamy macrophages (atherosis).|NCI|N|
C3897992|A rare, aggressive form of morphea characterized by sclerosis of the dermis, fascia, and muscle over large parts of the body, resulting in contractures and immobility.|NCI|N|
C3897998|The outcome of the palpable masses assessment as originally received or collected.|NCI|N|
C3898042|A change in the nucleotide sequence of the PMS2 gene.|NCI|N|
C3898046|A molecular genetic abnormality indicating the presence of a mutation in exon 18 of the PDGFRA gene located within 4q11-q13.|NCI|N|
C3898047|A molecular genetic abnormality indicating the presence of a mutation in exon 14 of the PDGFRA gene located within 4q11-q13.|NCI|N|
C3898048|A molecular genetic abnormality indicating the presence of a mutation in exon 12 of the PDGFRA gene located within 4q11-q13.|NCI|N|
C3898066|A non-neoplastic or neoplastic disorder that affects the ears, nose, paranasal sinuses, oral cavity, or throat.|NCI|N|
C3898068|A plasma cell neoplasm associated with osteosclerotic and fibrotic changes in the bone trabeculae. Often, the lymph nodes show changes resembling the plasma cell variant of Castleman disease. It is often part of POEMS syndrome which is characterized by polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy, and skin changes.|NCI|N|
C3898069|A radiologic finding indicating the presence of multiple radiolucent osteolytic bone lesions observed in a patient with a diagnosis of multiple myeloma.|NCI|N|
C3898070|The outcome of the test or finding as originally received or collected.|NCI|N|
C3898072|Growth hormone deficiency due to an identifiable biological cause.|NCI|N|
C3898078|The outcome of the organ measurements as originally received or collected.|NCI|N|
C3898088|The binding of one or more ocular muscles by orbital bone pieces, resulting in decreased eye mobility.|NCI|N|
C3898089|A melanoma that arises from the structures of the orbit.|NCI|N|
C3898090|Bruising of the skin and soft tissue surrounding the eye.|NCI|N|
C3898092|Any oral disorder occurring as a consequence of injury to the mouth and lips.|NCI|N|
C3898093|Any oral disorder occurring as a consequence of radiation therapy.|NCI|N|
C3898094|Any oral disorder occurring as a consequence of chemotherapy treatment.|NCI|N|
C3898097|Any eye disorder occurring as a consequence of injury to the eye.|NCI|N|
C3898107|External material that enters the eye.|NCI|N|
C3898110|A situation in which the umbilical cord is prolapsed through the cervical canal but not through external os.|NCI|N|
C3898111|Birth trauma caused by excessive pressure to the suboccipital region of the skull resulting in separation of the occipital squama from the lateral or condylar parts of the occipital bone. It is a serious injury that may lead to subdural hemorrhage in the posterior fossa.|NCI|N|
C3898122|The normal development of male secondary sexual characteristics (such as hirsutism, deepening of the voice) in pubertal boys due to testosterone effects.|NCI|N|
C3898123|An inflammation of one or more joints, without loss of articular cartilage or destruction of subchondral bone.|NCI|N|
C3898124|Idiopathic short stature in a child when neither parent is short in stature.|NCI|N|
C3898125|A rare type of multiple myeloma in which the plasma cells synthesize but do not secrete immunoglobulins. As a result, none of the immunoglobulins appear out of the normal range. The symptoms are generally the same with those of immunoglobulin-secreting myeloma; however, the incidence of renal insufficiency is lower in non-secretory myeloma. The diagnosis can be missed because of the absence of monoclonal immunoglobulin in the serum or urine.|NCI|N|
C3898126|A non-neoplastic disorder that affects the smooth, skeletal, or cardiac muscles.|NCI|N|
C3898127|A soft tissue sarcoma that occurs during childhood and is confined to a specific site without evidence of spread to other anatomic sites.|NCI|N|
C3898130|An electrocardiographic finding of Q waves that are insufficient for the diagnosis of myocardial infarction. In such cases, a myocardial infarction may be suspected even though ECG diagnostic criteria are absent. (CDISC)|NCI|N|
C3898132|A term that refers to a broad group of diagnoses that may include any disease except for cancer or cancer related disorders.|NCI|N|
C3898137|A recently diagnosed metastatic carcinoma of unknown primary origin.|NCI|N|
C3898138|Clinical, laboratory or molecular evidence, or absence of evidence of disease in a neonate or infant.|NCI|N|
C3898139|The subjective evidence of disease perceived by the patient that can be classified as new or worsening|NCI|N|
C3898140|A finding of decreased regional heart wall motion contractility, which is new compared to prior non-invasive imaging techniques.|NCI|N|
C3898142|A finding of loss of viable myocardium, which is new compared to prior non-invasive imaging techniques.|NCI|N|
C3898144|A disorder of the nervous system related to a vascular etiology.|NCI|N|
C3898145|Secretions which may be thin or tenacious, mucoid or glairy, grayish or milky, occasionally blood tinged, that originate in the vagina and are a consequence of the residual influence of maternal estrogen.|NCI|N|
C3898146|Cardiorespiratory events that are characterized by variable combinations of cessation of breathing, decrease in blood oxygen saturation, and decreased heart rate.|NCI|N|
C3898147|Injury to the central nervous system in the newborn period that occurs when there is insufficient delivery of oxygen to all or part of the brain.|NCI|N|
C3898153|A ring of karyorrhectic debris that may exhibit dystrophic mineralization and/or identifiable fetal neutrophil infiltrate in Wharton''s jelly that is oriented towards the amniotic surface. The cord has a denser ring externally and a fainter ring centrally.|NCI|N|
C3898154|A severe and often fatal form of necrotizing enterocolitis, in which diffuse ischemia, necrosis, and pneumatosis intestinalis are evident in the small and large intestine. Short bowel syndrome is common among survivors.|NCI|N|
C3898156|The status of an individual who is serving in the National Guard.|NCI|N|
C3898157|A very rare small cell neuroendocrine carcinoma that arises from the nose and paranasal sinuses.|NCI|N|
C3898206|A change in the nucleotide sequence of the NF1 gene.|NCI|N|
C3898222|A melanoma that arises from a mucosal site.|NCI|N|
C3898224|An adenocarcinoma arising from the colon of a mouse. It can be used as a mouse model of the human disease.|NCI|N|
C3898225|The variable or non-uniform coloring of the placental parenchyma indicating variable contribution of the blood contained within the fetal vessels to the color of the parenchyma.|NCI|N|
C3898241|The outcome of the morphology assessment as originally received or collected.|NCI|N|
C3898251|An indication or description that morphology assessment data is a derived value.|NCI|N|
C3898257|An indication or description that morphology data is a baseline value.|NCI|N|
C3898279|A chronic lung disorder associated with pulmonary maldevelopment, scarring, and/or inflammation that develops in preterm neonates exposed to supplemental oxygen for at least 28 days. For infants born before 32 weeks gestation with moderate BPD, there is a supplemental oxygen requirement of less than 30% at 36 weeks postmenstrual age or earlier discharge. For infants born after 32 weeks with moderate BPD, there is a supplemental oxygen requirement of less than 30% at 56 days post-natal age or at earlier discharge.|NCI|N|
C3898280|The presence of more than one variant of morphea in a single patient.|NCI|N|
C3898352|A chronic lung disorder associated with pulmonary maldevelopment, scarring, and/or inflammation that develops in preterm neonates exposed to supplemental oxygen for at least 28 days. For infants born before 32 weeks gestation with mild BPD, there is no supplemental oxygen requirement at 36 weeks postmenstrual age or earlier discharge. For infants born after 32 weeks with mild BPD, there is no supplemental oxygen requirement at 56 days post-natal age or at earlier discharge.|NCI|N|
C3898365|The outcome of the microscopic assessment as originally received or collected.|NCI|N|
C3898375|An indication or description of a correlation between death and a microscopic finding.|NCI|N|
C3898378|The standard character or string for representation and reporting of microscopic findings data.|NCI|N|
C3898382|An indication or description that microscopic findings data is a baseline value.|NCI|N|
C3898437|The end of a device is fractured or damaged.|NCI|N|
C3898438|A part of a device has been fractured or damaged.|NCI|N|
C3898462|The tumor shows metastasis throughout the pleural and/or pericardial spaces or metastasis to distant sites.|NCI|N|
C3898463|The tumor shows invasion into the capsule.|NCI|N|
C3898465|An observation that the fetal membranes are inserted at the edge of the placental disc.|NCI|N|
C3898471|Faulty healing of bone, resulting in improper anatomical alignment.|NCI|N|
C3898472|A primary or metastatic malignant neoplasm involving the cardiovascular system.|NCI|N|
C3898473|Blockage in the biliary tract caused by a malignant neoplasm.|NCI|N|
C3898474|Symptoms, physical examination results, and/or laboratory test results related to the male reproductive system.|NCI|N|
C3898478|The presence of macroscopically visible residual tumor at the edge of a surgically excised specimen.|NCI|N|
C3898488|The outcome of the macroscopic findings assessment as originally received or collected.|NCI|N|
C3898492|An indication or description of a correlation between death and a macroscopic finding.|NCI|N|
C3898497|The standard character or string for representation and reporting of macroscopic findings data.|NCI|N|
C3898500|A change in the nucleotide sequence of the MSH6 gene.|NCI|N|
C3898547|A change in the nucleotide sequence of the MLH1 gene.|NCI|N|
C3898552|A change in the nucleotide sequence of the MEN1 gene.|NCI|N|
C3898561|A pathologic and/or clinical finding indicating the spread of a lymphomatous process to an anatomic site other than lymph nodes and skin.|NCI|N|
C3898566|A severe, persistent headache that occurs in patients with systemic lupus erythematosus, and is nonresponsive to narcotic analgesia.|NCI|N|
C3898567|An electrocardiographic finding of small QRS amplitudes (less than 500 microvolts) in all limb leads. (CDISC)|NCI|N|
C3898573|A decrease in the openness of a side branch of a blood vessel.|NCI|N|
C3898574|A decrease in the openness of a major, or great, blood vessel.|NCI|N|
C3898575|Loss of protein expression of the BRG-associated factor 250a (BAF250a). It is caused by mutation of the tumor-suppressor gene ARID1A. It is linked to tumor progression and poor prognosis in various cancers.|NCI|N|
C3898582|A form of Castleman disease that is usually asymptomatic or that may present with enlarged lymph nodes.|ORDO|N|
C3898586|A rare carcinoma that arises from the intrahepatic bile ducts and is composed of malignant glandular cells and malignant squamous cells.|NCI|N|
C3898595|An indication as to whether limb failure occurred.|NCI|N|
C3898599|A finding of diffuse metabolic activity at the primary tumor or nodal sites that is greater than background uptake but less than liver uptake, detected by PDG-PET.|NCI|N|
C3898600|A finding of focal metabolic activity at the primary or nodal sites that is greater than liver uptake, as detected by FDG-PET.|NCI|N|
C3898601|A finding of metabolic activity at the primary or nodal sites that is greater than liver uptake, but can be attributed to inflammation activity, as detected by FDG-PET.|NCI|N|
C3898605|An indication as to whether a performed procedure of a target lesion is considered successful.|NCI|N|
C3898606|An indication as to whether clinical or functional ischemia is present before lesion revascularization occurred.|NCI|N|
C3898607|An indication as to whether an appropriate clinical context was present before lesion revascularization occurred.|NCI|N|
C3898608|An indication as to whether there is re-narrowing of a lesion site following treatment of a prior stenosis, to a diameter stenosis of greater than 50% at the previously treated lesion site.|NCI|N|
C3898609|An indication as to whether lesion failure occurred.|NCI|N|
C3898620|The loss of a pregnancy between 13 and 22 weeks.|NCI|N|
C3898623|A late stage of Lyme disease that may present in untreated patients months to years after a tick bite manifested with intermittent bouts of arthralgia, arthritis and neurologic complaints.|NCI|N|
C3898625|The length, in cm, of the longest axis of the chorionic disc.|NCI|N|
C3898627|Full-thickness wound of the eyewall (cornea and/or sclera) caused by a sharp object.|NCI|N|
C3898642|A change in the amino acid residue at position 13 in the GTPase KRas protein where glycine has been replaced by another amino acid.|NCI|N|
C3898643|A change in the amino acid residue at position 12 in the GTPase KRas protein where glycine has been replaced by another amino acid.|NCI|N|
C3898644|A change in the nucleotide sequence of the KRAS gene that that results in constitutive signal transduction, which stimulates downstream signaling pathways involved in cell growth, proliferation, invasion, and metastasis. The presence of KRAS activating mutations in colorectal cancer and non-small-cell lung cancer is used identify the subgroup of patients who are most likely to respond to EGFR antagonist chemotherapy.|NCI|N|
C3898646|A molecular genetic abnormality indicating the presence of a mutation in exon 17 of the KIT gene located within 4q11-q12.|NCI|N|
C3898649|Disabling pansclerotic morphea of childhood is the most severe subtype of deep morphea within the spectrum of juvenile localized scleroderma. Patients affected by this systemic inflammatory disorder experience poor wound healing with rapidly progressive deep fibrosis involving the mucous membranes, dermis, subcutaneous fat, fascia, muscles, and bone, leading to contractures, musculoskeletal atrophy, and articular ankylosis. Systemic manifestations include cytopenias and hypogammaglobulinemia, but scleroderma-associated autoantibodies are usually not present. The disorder is associated with high morbidity and mortality due to squamous cell carcinoma, restrictive pulmonary disease, sepsis, and gangrene (Baghdassarian et al., 2023).|OMIM|N|
C3898650|A rare form of juvenile dermatomyositis that manifests with characteristic cutaneous findings for at least six months in the absence of any detectable muscle involvement.|NCI|N|
C3898652|Myocardial infarction associated with CABG. (Universal definition of myocardial infarction, Kristian Thygesen, Joseph S. Alpert and Harvey D. White on behalf of the Joint ESC/ACCF/AHA/WHF Task Force for the Redefinition of Myocardial Infarction, Eur Heart J (2007) 28 (20): 2525-2538.)|NCI|N|
C3898653|Myocardial infarction associated with stent restenosis as detected by coronary angiography or at autopsy. (Universal definition of myocardial infarction, Kristian Thygesen, Joseph S. Alpert and Harvey D. White on behalf of the Joint ESC/ACCF/AHA/WHF Task Force for the Redefinition of Myocardial Infarction, Eur Heart J (2007) 28 (20): 2525-2538.)|NCI|N|
C3898654|Myocardial infarction associated with stent thrombosis as documented by angiography or at autopsy. (Universal definition of myocardial infarction, Kristian Thygesen, Joseph S. Alpert and Harvey D. White on behalf of the Joint ESC/ACCF/AHA/WHF Task Force for the Redefinition of Myocardial Infarction, Eur Heart J (2007) 28 (20): 2525-2538.)|NCI|N|
C3898655|Myocardial infarction associated with PCI. (Universal definition of myocardial infarction, Kristian Thygesen, Joseph S. Alpert and Harvey D. White on behalf of the Joint ESC/ACCF/AHA/WHF Task Force for the Redefinition of Myocardial Infarction, Eur Heart J (2007) 28 (20): 2525-2538.)|NCI|N|
C3898656|Sudden unexpected cardiac death, including cardiac arrest, often with symptoms suggestive of myocardial ischaemia, accompanied by presumably new ST elevation, or new LBBB, or evidence of fresh thrombus in a coronary artery by angiography and/or at autopsy, but death occurring before blood samples could be obtained, or at a time before the appearance of cardiac biomarkers in the blood. (Universal definition of myocardial infarction, Kristian Thygesen, Joseph S. Alpert and Harvey D. White on behalf of the Joint ESC/ACCF/AHA/WHF Task Force for the Redefinition of Myocardial Infarction, Eur Heart J (2007) 28 (20): 2525-2538.)|NCI|N|
C3898658|Spontaneous myocardial infarction related to ischaemia due to a primary coronary event such as plaque erosion and/or rupture, fissuring, or dissection. (Universal definition of myocardial infarction, Kristian Thygesen, Joseph S. Alpert and Harvey D. White on behalf of the Joint ESC/ACCF/AHA/WHF Task Force for the Redefinition of Myocardial Infarction, Eur Heart J (2007) 28 (20): 2525-2538.)|NCI|N|
C3898659|A change in the amino acid residue at position 617 in the tyrosine-protein kinase JAK2 protein where valine has been replaced by another amino acid. A change to phenylalanine at this position is associated with polycythemia vera.|NCI|N|
C3898660|A change in the amino acid residue at position 875 in the tyrosine-protein kinase JAK2 protein where threonine has been replaced by asparagine.|NCI|N|
C3898661|A nucleotide substitution at position 2624 of the coding sequence of the JAK2 gene where cytosine has been mutated to adenine.|NCI|N|
C3898662|Occurrence of the first menstrual period in a girl before the lower limit of the normal age range for the reference population, without other signs of puberty.|NCI|N|
C3898664|An indication as to whether the subject has symptoms of ischemic discomfort.|NCI|N|
C3898693|Bleeding into the lateral cerebral ventricles and the adjacent brain tissue of a newborn infant.|NCI|N|
C3898694|Bleeding into the cerebral ventricles that occurs during labor and/or delivery.|NCI|N|
C3898700|An acute symptomatic tearing of the uterine wall after the onset of labor.|NCI|N|
C3898702|Bleeding into the brain tissue of a newborn infant.|NCI|N|
C3898706|Bleeding within the skull of a newborn infant occurring during labor and/or delivery.|NCI|N|
C3898709|An adenocarcinoma that arises from the nasal cavity and paranasal sinuses. Histologically it resembles intestinal carcinoma or adenoma. It is associated with lengthy occupational exposure to dust.|NCI|N|
C3898711|A focus of maternal thrombus within the intervillous space, often with peripheral villous compression. The clot may be wholly or minimally laminated reflecting age.|NCI|N|
C3898748|Failure to thrive due to poor intake by the infant, inadequate feeding schedule or insufficient maternal production of breast milk.|NCI|N|
C3898757|An electrocardiographic recording that does not demonstrate any significant signs of ischemia or conduction abnormalities.|NCI|N|
C3898758|A feeling of unrest and/or an inability to feel calm or relaxed.|NCI|N|
C3898764|Invasive urothelial carcinoma of the bladder which is associated with the presence of in situ or infiltrating urethral carcinoma.|NCI|N|
C3898765|Inflammation of the cornea secondary to an infectious process.|NCI|N|
C3898766|A finding of abnormal heart wall motion contractility in response to stress, and which is not seen at rest.|NCI|N|
C3898771|Increased number of syncytiotrophoblasts with clusters of apoptotic bodies compared to what would be expected for gestational age.|NCI|N|
C3898772|A finding of an increased amount of either B-type natriuretic peptide or N-terminal pro-B-type natriuretic peptide|NCI|N|
C3898773|Non-identically shaped visual field defect in the same location in both eyes.|NCI|N|
C3898774|A maternal placental surface that lacks a smooth basal plate. Missing pieces of the placental parenchyma are appreciable.|NCI|N|
C3898775|An indication as to whether there is re-narrowing of a stent implanted at a lesion site to treat a prior stenosis, to a diameter stenosis of greater than 50% within the stent.|NCI|N|
C3898794|The outcome of the immunogenicity specimen assessment as originally received or collected.|NCI|N|
C3898804|An indication or description that immunogenicity specimen assessment data is a baseline value.|NCI|N|
C3898813|Tall stature for which no underlying cause can be found.|NCI|N|
C3898814|Insufficient secretion of growth hormone for which no underlying cause can be found.|NCI|N|
C3898816|Growth failure due to medical intervention.|NCI|N|
C3898822|A change in the amino acid residue at position 172 in the isocitrate dehydrogenase [NADP], mitochondrial protein where arginine has been replaced by another amino acid. Mutations at this position are found in patients with acute myeloid leukemia following myelodysplastic syndromes and is associated with shorter overall survival.|NCI|N|
C3898823|A change in the amino acid residue at position 140 in the isocitrate dehydrogenase [NADP], mitochondrial protein where arginine has been replaced by another amino acid. Mutations at this position are found in patients with acute myeloid leukemia following myelodysplastic syndromes and is associated with shorter overall survival.|NCI|N|
C3898824|A change in the nucleotide sequence of the IDH2 gene.|NCI|N|
C3898825|A variation in the amino acid sequence for the isocitrate dehydrogenase [NADP] cytoplasmic protein.|NCI|N|
C3898826|A change in the amino acid residue at position 132 in the isocitrate dehydrogenase [NADP] cytoplasmic protein where arginine has been replaced by another amino acid. Mutations at this position occur frequently in high-grade gliomas but not in other solid tumors.|NCI|N|
C3898827|A change in the nucleotide sequence of the IDH1 gene.|NCI|N|
C3898829|Umbilical cord with apparent reduced helical coiling of the arteries around the vein.|NCI|N|
C3898830|Excessive sexual behavior.|NCI|N|
C3898832|Umbilical cord with apparent increased helical coiling of the arteries around the vein.|NCI|N|
C3898833|An immediate rejection of transplanted tissue caused by the presence of preformed antibodies to donor human leukocyte antigens.|NCI|N|
C3898835|Presence of preformed antibodies to donor human leukocyte antigen (HLA).|NCI|N|
C3898876|A finding of a hospitalization event due to a heart failure diagnosis.|NCI|N|
C3898877|Prostate carcinoma that does not respond to hormone therapy.|NCI|N|
C3898880|A bilateral visual field defect on the same side of visual space of each eye (right or left).|NCI|N|
C3898888|A staging classification system for hepatocellular carcinoma that uses variables related to tumor stage, liver functional status, physical status, and cancer-related symptoms, and links the stages with a treatment algorithm. (HPB (Oxford) 2005; 7(1):35-41)|NCI|N|
C3898892|The deposition of hemosiderin in a focus of thrombus within the placental intervillous space.|NCI|N|
C3898893|The deposition of hemosiderin along the gravid uterine wall.|NCI|N|
C3898894|The deposition of hemosiderin along the gravid uterine fundus beneath the placenta.|NCI|N|
C3898896|The presence of bacteria in the blood caused by an infected hemodialysis catheter.|NCI|N|
C3898898|A finding of heart failure through a non-invasive diagnostic technique.|NCI|N|
C3898899|A finding of heart failure through an invasive diagnostic technique.|NCI|N|
C3898900|No history of any serious disease, including the disease being investigated in the proband.|HPO|N|
C3898906|Indicates that a person''s current status of health is not known.|NCI|N|
C3898981|A response indicating that something occurs rarely or with very little intensity.|NCI|N|
C3899006|Subnormal linear growth rate in an infant, child or adolescent based on the normative values for the age and sex of the reference population; the cause of the growth failure is unknown.|NCI|N|
C3899007|Infection of an infant from birth to less than seven days of life caused by Group B Streptococcus (Streptococcus agalactiae) from a colonized mother.|NCI|N|
C3899008|The presence of microscopically visible residual tumor at the edge of a surgically excised specimen that otherwise looks macroscopically normal.|NCI|N|
C3899009|The absence of tumor cells at the edge of a surgically excised specimen, both macroscopically and microscopically.|NCI|N|
C3899010|A separation of the placenta from the uterine wall that is manifested by a retroplacental hematoma with villous compression and change in villous coloration that is reflective of lesion age.|NCI|N|
C3899073|In pregnancies with more than one fetus, the composite structure that results from the growth of two (or more) placental chorionic discs such that the placental masses abut one another and are delivered as a single unit but can manually separated into individual units.|NCI|N|
C3899081|A situation in which the umbilical cord is prolapsed through the cervix and into the vagina.|NCI|N|
C3899082|A broken ulna sustained during the birthing process.|NCI|N|
C3899083|A broken vertebra sustained during the birthing process.|NCI|N|
C3899084|A broken radius sustained during the birthing process.|NCI|N|
C3899085|A broken nasal bone sustained during the birthing process.|NCI|N|
C3899086|An injury sustained during the birthing process in which the continuity is broken in any bone that is longer in length than width.|NCI|N|
C3899087|A broken humerus sustained during the birthing process.|NCI|N|
C3899088|A broken femur sustained during the birthing process.|NCI|N|
C3899089|An injury sustained during the birthing process in which the continuity is broken in the clavicle.|NCI|N|
C3899090|A broken bone sustained during the birthing process.|NCI|N|
C3899092|Birth injury sustained during a forceps-assisted delivery.|NCI|N|
C3899098|The outcome of the food and water consumption assessment as originally received or collected.|NCI|N|
C3899113|A finding of decreased blood flow in the microcirculation of the heart.|NCI|N|
C3899119|A fetus that does not grow beyond the 10th percentile of conventionally accepted weight for gestational age and shows evidence of oligohydramnios.|NCI|N|
C3899120|A fetus that does not grow beyond the 10th percentile of conventionally accepted weight for gestational age and has abnormal Doppler studies.|NCI|N|
C3899121|A fetus that does not grow beyond the 10th percentile of conventionally accepted weight for gestational age and whose abdominal circumference falls below the tenth percentile.|NCI|N|
C3899122|A focus of thrombus adhered to the wall of a fetal stem vessel. It can be completely or partially obstructive and may lead to avascular villi.|NCI|N|
C3899123|A focus of thrombus adhered to the wall of a fetal stem vessel. It can be completely or partially obstructive and may lead to downstream villous injury and calcification.|NCI|N|
C3899124|Increased nucleated red blood cells within the fetal circulation.|NCI|N|
C3899125|A neutrophilic infiltrate arising from fetal vessels in the chorionic plate and oriented towards the amniotic cavity.|NCI|N|
C3899142|Symptoms, physical examination results, and/or laboratory test results related to the female reproductive system.|NCI|N|
C3899153|Violation of Tenon''s capsule with prolapse of orbital fat into the sub-Tenon''s space.|NCI|N|
C3899154|Germ cell tumor that arises from the testis and is diagnosed in at least two relatives.|NCI|N|
C3899155|Genetic inheritance of neuroblastoma caused by mutations in the ALK or PHOX2B genes. Familial neuroblastomas have a higher incidence of multiple primary tumors and are diagnosed at an earlier age.|NCI|N|
C3899156|Idiopathic tall stature in a child when either one or both parents is tall in stature.|NCI|N|
C3899157|Idiopathic short stature in a child when either one or both parents is short in stature.|NCI|N|
C3899159|Failure to achieve a linear growth rate sufficient to restore height to within the normative range for the reference population.|NCI|N|
C3899160|A condition characterized by reduced or absent movement of the ipsilateral face as a consequence of an injury to the seventh cranial nerve sustained during the birthing process.|NCI|N|
C3899165|A mutation in the region of the FLT3 gene that encodes the second tyrosine kinase domain of the receptor-type tyrosine-protein kinase FLT3 that causes the stabilization of the activation loop of the kinase domain. FLT3 activation loop mutations lead to constitutive tyrosine kinase activity and are associated with acute myeloid leukemia.|NCI|N|
C3899171|A constellation of disorders involving mutations of the FGFR3 gene, which result in abnormal growth of bone and cartilage; this includes achondroplasia and hypochondroplasia.|NCI|N|
C3899173|A molecular genetic abnormality indicating the presence of multiple copies of an FGFR family gene.|NCI|N|
C3899174|A molecular genetic abnormality indicating the presence of multiple copies of an FGF family gene.|NCI|N|
C3899175|A nuclear medicine finding obtained using FDG-PET imaging technique.|NCI|N|
C3899176|A change in the nucleotide sequence of the FAP gene.|NCI|N|
C3899187|Extension of a malignant neoplasm beyond the lymph node capsule.|NCI|N|
C3899192|Oligoarticular juvenile idiopathic arthritis that eventually involves more than four separate joints.|NCI|N|
C3899210|An indication or description of a collected exposure occurrence.|NCI|N|
C3899219|An indication or description of whether a collected exposure specimen was obtained from a subject that has abstained from food and possibly water for the prescribed amount of time.|NCI|N|
C3899231|A malignant tumor that arises in the brain stem or adjacent cranial nerves, consisting of variable populations of cells which demonstrate both neuronal and myoblast differentiation. (INHAND)|NCI|N|
C3899233|A malignant neoplasm of the brain or spinal cord originating from astrocytes.|NCI|N|
C3899234|A benign neoplasm in the superficial dermis with direct association to the epidermis, composed of well differentiated squamous epithelium and a central cavity filled with concentric layers of keratin; a pore (opening in the epidermis) may be present. (CDISC)|NCI|N|
C3899235|A benign tumor of the pancreas with morphologic characteristics of endocrine, acinar and ductal cells. (INHAND)|NCI|N|
C3899240|An indication as to whether type 1 and type 2 myocardial infarction is excluded as a diagnosis.|NCI|N|
C3899241|Specifies whether result values should be excluded from the calculations or statistical analysis.|NCI|N|
C3899242|Specifies whether the vital signs result values should be excluded from the statistical analysis.|NCI|N|
C3899243|Specifies whether the organ measurement result values should be excluded from the statistical analysis.|NCI|N|
C3899244|Specifies whether the laboratory test result values should be excluded from the statistical analysis.|NCI|N|
C3899245|Specifies whether the food and water consumption result values should be excluded from the statistical analysis.|NCI|N|
C3899246|Specifies whether the ECG result values should be excluded from the statistical analysis.|NCI|N|
C3899247|Specifies whether the clinical observation result values should be excluded from the statistical analysis.|NCI|N|
C3899248|Specifies whether the body weight gain result values should be excluded from the statistical analysis.|NCI|N|
C3899249|Specifies whether the body weight result values should be excluded from the statistical analysis.|NCI|N|
C3899250|An achievement of either a complete disease response, or a partial disease response of at least 6 months duration in a trial or treatment where the overall response rate is less than 10 percent.|NCI|N|
C3899262|An indication as to whether the event meets the criteria for a clinical endpoint.|NCI|N|
C3899267|A condition affecting premature infants characterized by white matter injury, which is frequently accompanied by neuronal/axonal disease, that may affect all brain parenchymal structures and is due to a combination of destructive processes as well as maturational and trophic disturbances.|NCI|N|
C3899268|An abnormally high blood pressure reading.|NCI|N|
C3899278|Recent diagnosis of rheumatoid arthritis (usually within one to two years of onset) during which treatment may be more effective and possibly improve the disease course.|NCI|N|
C3899280|An early stage of Lyme disease that may present within 3-30 days after a tick bite with a red, concentrically-expanding rash (erythema migrans), fatigue, chills, fever, headache, muscle and joint aches, and swollen lymph nodes.|NCI|N|
C3899281|Early stages of inflammatory arthritis, when the underlying diagnosis is uncertain, usually little or no joint damage has occurred. Treatment may alter the disease course (e.g., potentially avert progression to full RA or other diagnosis).|NCI|N|
C3899282|An early stage of Lyme disease that may present days to weeks after a tick bite with relapsing signs of a red, concentrically-expanding rash (erythema migrans), facial palsy, meningismus, neuralgia, heart palpitations, and dizziness.|NCI|N|
C3899311|A finding of heart failure during a visit to the emergency room or a doctor''s office.|NCI|N|
C3899319|An indication as to whether ECG interval measurements were based on the same lead.|NCI|N|
C3899322|The level of awareness of an organism during an electrocardiogram assessment.|NCI|N|
C3899325|An indication as to whether replicate ECGs for time points during the baseline portion of the study were included.|NCI|N|
C3899326|An indication as to whether replicate ECGs for time points during the on-treatment portion of the study were included.|NCI|N|
C3899331|An indication as to whether the 10-second ECGs for this study were extracted from a continuous recording.|NCI|N|
C3899332|A morphologic finding indicating the presence of dysplastic epithelial changes in an intestinal tissue sample that is affected by Crohn disease.|NCI|N|
C3899345|A carcinoma that arises from the distal part of the urethra.|NCI|N|
C3899346|A bacterial infection by Listeria monocytogenes in two or more non-contiguous sterile body compartments.|NCI|N|
C3899347|Malposition and dysfunction of a peritoneal dialysis catheter.|NCI|N|
C3899348|Abnormally high or low anti-Müllerian hormone levels.|NCI|N|
C3899349|A defect in the Anti-Muellerian hormone receptor.|NCI|N|
C3899350|Malposition of a peritoneal dialysis catheter.|NCI|N|
C3899359|The outcome of the disease response assessment as originally received or collected.|NCI|N|
C3899367|An indication or description of a record that is considered to be the accepted and final evaluation for the disease response.|NCI|N|
C3899369|The spread or migration of cancer cells through the wall of an organ into surrounding organs and/or adjacent tissues.|NCI|N|
C3899377|Bleeding originating from any part of the digestive system.|NCI|N|
C3899382|A severe hypersensitivity-like reaction occurring during dialysis due to exposure to the dialysis membrane.|NCI|N|
C3899383|Local infection involving the subcutaneously tunneled portion of a dialysis catheter.|NCI|N|
C3899384|A crack or break in a dialysis catheter caused by material weakness or mechanical compression.|NCI|N|
C3899385|Local infection at the dialysis catheter exit site.|NCI|N|
C3899386|Any issue that arises as a consequence of a problem with a patient''s dialysis access.|NCI|N|
C3899390|A device or pieces of the device remain in a patient.|NCI|N|
C3899391|An appliance or mechanism that continues to be implanted.|NCI|N|
C3899392|A status indicating that a device was introduced to the subject for use but did not meet its intended goal and was removed.|NCI|N|
C3899394|A subjective answer of very strong agreement.|NCI|N|
C3899396|A response indicating a certainty that something occurs with little frequency or intensity.|NCI|N|
C3899397|A response indicating a certainty that something occurs with much less frequency or intensity as previously.|NCI|N|
C3899398|A finding of strong focal metabolic activity at the primary or nodal sites that is greater than liver uptake, as detected by FDG-PET.|NCI|N|
C3899399|A defect in the MISR II gene.|NCI|N|
C3899401|Diminished clarity of vision with current correction (glasses and/or contacts).|NCI|N|
C3899402|Diminished clarity of vision without optical correction (glasses and/or contacts).|NCI|N|
C3899403|Reduced ability to sustain attention.|NCI|N|
C3899404|Diminished clarity of vision despite optimal optical correction (glasses and/or contacts).|NCI|N|
C3899405|Impaired ability to focus on a subject or idea.|NCI|N|
C3899406|An indication as to whether the image reconstruction took into account the time-activity curve during which the radiolabeled tracer decayed as it spread through the body during the image acquisition.|NCI|N|
C3899408|The outcome of the death diagnosis assessment as originally received or collected.|NCI|N|
C3899479|A variant form of nucleophosmin with cytoplasmic expression. These variants have either a 4-base or 9-base insertion in exon 12 of the NPM1 gene. Acute myelogenous leukemia with normal cytogenetics and cytoplasmic nucleophosmin (NPMc+ AML) constitutes about one third of the cases of primary AML in adults.|NCI|N|
C3899482|Self-injury caused by making cuts into the skin.|NCI|N|
C3899483|Intralymphatic metastasis of cutaneous melanoma between the primary melanoma site and the regional lymph node basin. (from AJCC 7th Ed.)|NCI|N|
C3899487|An ultrastructural finding in breast adipose tissue that indicates macrophage infiltration to sites of adipocyte necrosis. This finding is associated with obesity and breast tissue inflammation and may be an indicator for increased risk of neoplastic breast disease.|NCI|N|
C3899493|An indication as to whether there is a new acute reduction in flow at the original percutaneous coronary intervention site in the coronary vessel.|NCI|N|
C3899494|An angiographic finding of pathologic material in a coronary vessel, which obstructs myocardial perfusion.|NCI|N|
C3899501|Identically shaped visual field defect in the same location in both eyes.|NCI|N|
C3899502|An infection, characterized by the rash of chickenpox or shingles, that is caused by the varicella-zoster virus transmitted directly from the mother to the fetus or neonate during late pregnancy or childbirth.|NCI|N|
C3899503|Insufficient production of estrogen or testosterone in the ovaries or testes due to decreased secretion of gonadotropins as a result of pituitary or hypothalamus gland dysfunction that is present at birth.|NCI|N|
C3899504|Ovarian or testicular dysfunction associated with high levels of gonadotropins, that is present at birth.|NCI|N|
C3899505|A morphologic defect of an organ, part of an organ, or a larger region of the body that results from the extrinsic breakdown of, or an interference with, an originally normal developmental process.|NCI|N|
C3899506|A congenital lymphatic malformation usually arising from the neck and characterized by cystic dilation of the lymphatic vessels.|NCI|N|
C3899516|A tic that involves multiple muscles or muscle groups, or words or sentences.|NCI|N|
C3899519|A maternal placental surface that is smooth and without appreciable parenchymal loss.|NCI|N|
C3899523|Cognitive impairment caused by cancer treatment.|NCI|N|
C3899528|Thin rings of enhancement visible in MRI that are clustered together around breast ducts in an area that is neither a mass nor a foci.|NCI|N|
C3899606|The outcome of the clinical observation as originally received or collected.|NCI|N|
C3899621|A type of morphea in which the lesions are circular or ovoid, and may be superficial or deep. The superficial lesions can have an indurated, waxy, ivory colored center with surrounding erythema or violaceous color during the active stage. Deep lesions can be sclerotic and depressed from underlying atrophy, and may show minimal skin color changes. When there are several (greater than or equal to 4), larger (greater than 3cm) lesions on two or more body areas this is classified as ""generalized morphea"".|NCI|N|
C3899626|A lymphocytic inflammation of the uteroplacental vessels.|NCI|N|
C3899627|The presence of decidual plasma cells, scattered or in aggregate.|NCI|N|
C3899628|Increased parietal decidual lymphocytes invading the fetal chorion and/or amnion.|NCI|N|
C3899631|A focus of thrombus adhered to the wall of a fetal blood vessel in the chorionic plate.|NCI|N|
C3899632|A focus of thrombus adhered to the wall of a fetal blood vessel in the chorionic plate. It can be completely or partially obstructive and may lead to downstream villous injury and calcification.|NCI|N|
C3899637|A Hodgkin lymphoma with unfavorable prognosis that occurs during childhood.|NCI|N|
C3899638|An undifferentiated pleomorphic sarcoma that occurs during childhood.|NCI|N|
C3899640|A rare carcinoma of the thyroid gland that occurs during childhood.|NCI|N|
C3899641|A rare small cell carcinoma of the lung that occurs during childhood.|NCI|N|
C3899642|A rare carcinoma of the salivary gland that occurs during childhood.|NCI|N|
C3899643|A rare carcinoma of the rectum that occurs during childhood.|NCI|N|
C3899644|A protoplasmic astrocytoma that occurs during childhood.|NCI|N|
C3899645|A pleomorphic xanthoastrocytoma that occurs during childhood.|NCI|N|
C3899646|A pilomyxoid astrocytoma that occurs during childhood.|NCI|N|
C3899647|A rare carcinoma of the parathyroid gland that occurs during childhood.|NCI|N|
C3899648|A rare carcinoma of the paranasal sinus that occurs during childhood.|NCI|N|
C3899649|An oligoastrocytoma that occurs during childhood.|NCI|N|
C3899650|A rare non-small cell carcinoma of the lung that occurs during childhood.|NCI|N|
C3899651|A rare carcinoma of the nasal cavity that occurs during childhood.|NCI|N|
C3899652|A mixed glioma that occurs during childhood.|NCI|N|
C3899653|A rare malignant neoplasm of the penis that occurs during childhood.|NCI|N|
C3899654|A rare carcinoma of the larynx that occurs during childhood.|NCI|N|
C3899655|Langerhans cell histiocytosis that occurs during childhood.|NCI|N|
C3899656|An infectious disorder that occurs during infancy, childhood, or adolescence.|NCI|N|
C3899657|A germ cell tumor that arises from the testis or ovary and occurs during childhood.|NCI|N|
C3899658|A gliosarcoma that occurs during childhood.|NCI|N|
C3899659|A giant cell glioblastoma that occurs during childhood.|NCI|N|
C3899660|A gemistocytic astrocytoma that occurs during childhood.|NCI|N|
C3899661|A rare carcinoma of the stomach that occurs during childhood.|NCI|N|
C3899662|A fibrillary astrocytoma that occurs during childhood.|NCI|N|
C3899663|A Hodgkin lymphoma with favorable prognosis that occurs during childhood.|NCI|N|
C3899664|A rare carcinoma of the esophagus that occurs during childhood.|NCI|N|
C3899665|An epithelioid hemangioendothelioma that occurs during childhood.|NCI|N|
C3899666|An embryonal tumor with multilayered rosettes, C19MC-altered that occurs during childhood.|NCI|N|
C3899667|An ependymal tumor that occurs during childhood.|NCI|N|
C3899668|A diffuse astrocytoma that occurs during childhood.|NCI|N|
C3899669|A rare colorectal carcinoma that occurs during childhood.|NCI|N|
C3899670|A cerebral anaplastic astrocytoma that occurs during childhood.|NCI|N|
C3899671|A cerebellar anaplastic astrocytoma that occurs during childhood.|NCI|N|
C3899672|A central nervous system embryonal tumor that occurs during childhood.|NCI|N|
C3899673|A neuroendocrine tumor grade 1 that occurs during childhood.|NCI|N|
C3899674|An oligodendroglioma that arises from the brain and occurs during childhood.|NCI|N|
C3899675|A rare carcinoma of the bladder that occurs during childhood.|NCI|N|
C3899676|An anaplastic oligoastrocytoma that occurs during childhood.|NCI|N|
C3899677|A rare pheochromocytoma of the adrenal gland that occurs during childhood.|NCI|N|
C3899690|The standardized result of the measurement, test, or examination in character format.|NCI|N|
C3899692|Intracranial bleeding in the tissue of the cerebrum of a newborn infant occurring during labor and/or delivery.|NCI|N|
C3899716|An osteosarcoma of mesenchymal origin in a dog. It is the most common bone cancer in dogs, most often developing in the limbs of large or giant breed dogs. The morphologic and biologic behavior of canine osteosarcomas is similar to that of human osteosarcomas.|NCI|N|
C3899717|Melanoma occurring in a dog. It is the most common malignant tumor found in the mouths of dogs and also occurs frequently on the digits. All canine melanomas are locally invasive and malignant canine melanomas show a high rate of metastasis. Melanoma in dogs has been established as a relevant model for human melanoma.|NCI|N|
C3899731|Kidney injury caused by calcineurin inhibitor immunosuppressive therapy which may lead to diminished kidney function.|NCI|N|
C3899762|Expression of a fusion protein that results from a t(10;19)(q26;q13) translocation, which involves the human genes CIC (capicua transcriptional suppressor) and DUX4L (double homeobox 4-like).|NCI|N|
C3899763|Expression of a fusion protein that results from a t(4;19)(q35;q13) translocation, which involves the human genes CIC (capicua transcriptional suppressor) and DUX4 (double homeobox 4).|NCI|N|
C3899764|CIC-rearranged sarcoma is a high-grade round cell undifferentiated sarcoma with CIC-related gene fusions.|SNOMEDCT_US|N|
C3899844|Lack of production of functional C4 protein, due to a genetic defect requiring homozygous loss of both the C4A and C4B genetic paralogs. Approximately 75% of patients with a C4 deficiency will develop a severe systemic lupus erythematosus at an early age. Patients also present with frequent sinopulmonary infections often with Streptococcus pneumoniae.|NCI|N|
C3899910|Abnormally slow eating.|NCI|N|
C3899917|The outcome of the body weight assessment as originally received or collected.|NCI|N|
C3899925|The outcome of the body weight gain assessment as originally received or collected.|NCI|N|
C3899933|An indication or description of whether a body weight measurement was obtained from a subject that has abstained from food and possibly water for the prescribed amount of time.|NCI|N|
C3899936|The standard character or string for representation and reporting of body weight data.|NCI|N|
C3899937|An indication or description that body weight data is a baseline value.|NCI|N|
C3899957|Acellular areas of the basal plate.|NCI|N|
C3899958|Collections of degenerated nuclear fragments that are associated with tissue injury during placental abruption.|NCI|N|
C3899966|A change in the amino acid sequence of the serine/threonine protein kinase B-raf protein where a threonine residue has been inserted between the threonine at position 599 and the valine at position 600.|NCI|N|
C3899967|A genetic variation where the trinucleotide, adenine-cytosine-adenine, has been inserted between the nucleotides at positions 1797 and 1798 of the coding sequence of the BRAF gene.|NCI|N|
C3899968|A genetic variation where the trinucleotide, thymine-adenine-cytosine, has been inserted between the nucleotides at positions 1796 and 1797 of the coding sequence of the BRAF gene.|NCI|N|
C3899975|End-stage hepatocellular carcinoma. Patients will receive symptomatic treatment. (HPB (Oxford) 2005; 7(1):35-41)|NCI|N|
C3899976|End-stage hepatocellular carcinoma. Patients will receive symptomatic treatment. (HPB (Oxford) 2005; 7(1):35-41)|NCI|N|
C3899977|Advanced hepatocellular carcinoma. Patients may receive new agents in the setting of randomized controlled trials. (HPB (Oxford) 2005; 7(1):35-41)|NCI|N|
C3899978|Advanced hepatocellular carcinoma. Patients may receive new agents in the setting of randomized controlled trials. (HPB (Oxford) 2005; 7(1):35-41)|NCI|N|
C3899979|Intermediate hepatocellular carcinoma. Patients may benefit from chemoembolization. (HPB (Oxford) 2005; 7(1):35-41)|NCI|N|
C3899980|Intermediate hepatocellular carcinoma. Patients may benefit from chemoembolization. (HPB (Oxford) 2005; 7(1):35-41)|NCI|N|
C3899981|Early hepatocellular carcinoma. Patients are candidates for radical therapies (resection, liver transplantation, or percutaneous treatments). (HPB (Oxford) 2005; 7(1):35-41)|NCI|N|
C3899982|Very early hepatocellular carcinoma. Patients are optimal candidates for resection. (HPB (Oxford) 2005; 7(1):35-41)|NCI|N|
C3899983|Very early hepatocellular carcinoma. Patients are optimal candidates for resection. (HPB (Oxford) 2005; 7(1):35-41)|NCI|N|
C3899987|Focus of two or more placental terminal villi showing a total loss of villous capillaries and bland hyaline fibrosis of the villous stroma. Stromal karyorrhexis may or may not be evident.|NCI|N|
C3899988|An inherited disorder manifested only when two copies of a mutated gene are present.|NCI|N|
C3899989|An inherited disorder that manifests when one copy of a mutated gene is present.|NCI|N|
C3900008|An electrocardiographic recording that demonstrates atrial tachycardia without 1:1 atrioventricular conduction.|NCI|N|
C3900013|A response indicating that something occurs with the same frequency or intensity as previously.|NCI|N|
C3900017|Placental villous microscopic features that are typical for the gestational age at birth.|NCI|N|
C3900027|A condition of the newborn characterized by the destruction of red blood cells initiated by the transmission of antibodies from a mother to the child via the placenta against the D antigen, the most common Rhesus factor.|NCI|N|
C3900051|Lack of drive to participate in social activities or goal oriented behavior.|NCI|N|
C3900052|Loss of the amnionic epithelial surface.|NCI|N|
C3900057|Thrombus formation within the arterial or venous system of donor tissue post transplantation.|NCI|N|
C3900091|A Hodgkin lymphoma with unfavorable prognosis that occurs during adulthood.|NCI|N|
C3900094|A carcinoma of the salivary gland that occurs during adulthood.|NCI|N|
C3900095|A pleomorphic hepatocellular carcinoma that occurs during adulthood.|NCI|N|
C3900096|A pineal gland astrocytoma that occurs during adulthood.|NCI|N|
C3900097|A carcinoma of the penis that occurs during adulthood.|NCI|N|
C3900098|Myelodysplastic syndrome that occurs in adulthood.|NCI|N|
C3900099|A mixed glioma that occurs during adulthood.|NCI|N|
C3900100|Langerhans cell histiocytosis that occurs during adulthood.|NCI|N|
C3900101|A germ cell tumor that occurs during adulthood.|NCI|N|
C3900102|Fibrolamellar variant of hepatocellular carcinoma that occurs during adulthood.|NCI|N|
C3900103|A Hodgkin lymphoma with favorable prognosis that occurs during adulthood.|NCI|N|
C3900104|An epithelioid hemangioendothelioma that occurs during adulthood.|NCI|N|
C3900105|A combined hepatocellular carcinoma and cholangiocarcinoma that occurs during adulthood.|NCI|N|
C3900106|A B acute lymphoblastic leukemia that occurs during adulthood. It is characterized by the presence of lymphoblasts that carry a translocation between the BCR gene on chromosome 22 and the ABL1 gene on chromosome 9. It results in the production of the p190 kd or p210 kd fusion protein. It has an unfavorable clinical outcome.|NCI|N|
C3900107|A focus of necrotic placental parenchyma with clearly visible outlines of necrotic villous structures and absence of any hyalinization and fibrosis, which is frequently 1-2 days of duration.|NCI|N|
C3900108|An electrocardiographic finding assessment of new or presumed new significant ST-segment-T wave (ST-T) changes or new left bundle branch block consistent with acute myocardial ischemia. (Thygesen K, Alpert JS, Jaffe AS, et al.: the Writing Group on behalf of the Joint ESC/ACCF/AHA/WHF Task Force for the Universal Definition of Myocardial Infarction. J Am Coll Cardiol 60(16):1-18, 2012)|NCI|N|
C3900111|A motor sensory axonal form of Guillain-Barré syndrome. Patients present with muscle weakness and sensory deficits, similar to that of the more frequent demyelinating form of Guillain-Barré syndrome. As in other types of Guillain-Barré syndrome, an infectious disease precedes the onset of limb weakness in the majority of cases. Although the exact pathological mechanism is poorly understood the disease is associated with the presence of antiganglioside antibodies and may be caused by antibody-mediated primary axonal degeneration or antibody-mediated inhibition of voltage-gated sodium channels.|SNOMEDCT_US|N|
C3900112|A sentinel hypoxic event occurring during labor, with evidence of fetal metabolic acidosis in the fetal umbilical arterial blood; a sudden and sustained fetal bradycardia or the absence of fetal heart rate variability in the presence of persistent, late, or variable decelerations (category III tracing); previously normal Apgar scores that are 0-3 beyond 5 minutes.|NCI|N|
C3900113|A focus of maternal thrombus within the placental intervillous space, often with peripheral villous compression, which is less than 1-2 days in age.|NCI|N|
C3900114|A sudden onset of B-cell mediated immune response occurring after transplantation, directed against donor kidney alloantigens.|NCI|N|
C3900115|A sudden onset of T-cell mediated immune response occurring after transplantation, directed against donor kidney alloantigens.|NCI|N|
C3900119|Growth hormone deficiency that is not present at birth; this condition may result from a variety of causes such as intracranial tumors or their treatment, infection, trauma or other cause.|NCI|N|
C3900120|A condition characterized by reduced or absent movement of the ipsilateral face as a consequence of an injury to the seventh cranial nerve that has occurred after birth.|NCI|N|
C3900121|Absence of satiety after eating.|NCI|N|
C3900122|Acid-labile subunit deficiency is characterized by severely reduced serum insulin-like growth factor I (IGF1; 147440) and IGF-binding protein-3 (IGFBP3; 146732) concentrations that are incongruent with an associated mild growth retardation (height, -2 to -3 SD before and during puberty). Pubertal delay in boys and insulin insensitivity are common findings (summary by Domene et al., 2011).|OMIM|N|
C3900127|Placental villous histology not typical of gestational age, with features of more mature villi.|NCI|N|
C3900128|Failure of the maternal spiral arteries to be transformed by extravillous cytotrophoblast to increase blood flow into the placental intervillous spaces, which may lead to an increased risk of early-onset pre-eclampsia and fetal growth restriction.|NCI|N|
C3900135|An electrocardiographic finding of abnormal QRS complex(es) that are supraventricular in origin, and that are wide secondary to aberrant AV conduction. (CDISC)|NCI|N|
C3900137|Inadequate development of an arteriovenous fistula within three months of creation.|NCI|N|
C3900169|An electrocardiographic finding, in the absence of left ventricular hypertrophy (LVH) and left bundle branch block pattern on ECG, of either a) new (or presumed new) ST elevation at the J point in two contiguous leads with the following cut-points: greater than or equal to 0.1 mV in all leads other than leads V2-V3 where the following cut points apply: greater than or equal to 0.2 mV in men age greater than or equal to 40 years, greater than or equal to 0.25 mV in men age greater than 40 years, or greater than or equal to 0.15 mV in women; or b) new (or presumed new) horizontal or down-sloping ST depression greater than or equal to 0.05 mV in two contiguous leads, and/or T wave inversion greater than or equal to 0.1 mV in two contiguous leads with a prominent R wave, or R/S ratio greater than 1. (Thygesen K, Alpert JS, Jaffe AS, et al.: the Writing Group on behalf of the Joint ESC/ACCF/AHA/WHF Task Force for the Universal Definition of Myocardial Infarction. J Am Coll Cardiol 60(16):1-18, 2012)|NCI|N|
C3900172|A response indicating that something happens or happened a lot of the time.|NCI|N|
C3900185|A fold change based on a concentration of a specific drug expected to produce 95% inhibition of the standard growth of a viral organism, or of a biological/biochemical reaction. It is a ratio calculated by the current IC95 Treatment Result divided by the IC95 Treatment Result from the baseline visit.|NCI|N|
C3900198|Conditions in 46,XY individuals in which androgens are produced in typical amounts, but tissue response to androgens is reduced.|NCI|N|
C4011403|Hypoplastic amelogenesis imperfecta IA is characterized by enamel that may not develop to normal thickness. The enamel may have pits on the labial or buccal surfaces that are often arranged in rows and columns (see Witkop, 1989).|OMIM|N|
C4011454|Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYBA2 gene.|MONDO|N|
C4011556|An abnormality of the eyebrow.|HPO|N|
C4011711|The depth of the outer muscular layer of the small bowel is below the lower limit of normal.|HPO|N|
C4011726|Tubular aggregates in muscle, first described by Engel (1964), are structures of variable appearance consisting of an outer tubule containing either one or more microtubule-like structures or amorphous material. They are a nonspecific pathologic finding that may occur in a variety of circumstances, including alcohol- and drug-induced myopathies, exercise-induced cramps or muscle weakness, and inherited myopathies. Tubular aggregates are derived from the sarcoplasmic reticulum (Salviati et al., 1985) and are believed to represent an adaptive mechanism aimed at regulating an increased intracellular level of calcium in order to prevent the muscle fibers from hypercontraction and necrosis (Martin et al., 1997; Muller et al., 2001).
Genetic Heterogeneity of Tubular Aggregate Myopathy
See also TAM2 (615883), caused by mutation in the ORAI1 gene (610277) on chromosome 12q24.|OMIM|N|
C4011788|A form of frontotemporal dementia characterized by progressive behavioral impairment and a decline in executive function with frontal lobe-predominant atrophy.|SNOMEDCT_US|N|
C4011841|The cerebriform connective tissue nevus (CCTN) is one of the most characteristic skin findings. It commonly occurs on the soles of the feet, and frequently causes problems because of pain, pruritus, infection, bleeding,exudation, odor, and walking impairment.|HPO|N|
C4011926|White sponge nevus is a rare autosomal dominant disorder of noncornifying squamous epithelial differentiation that presents clinically as white, soft, thick plaques of the oral mucosa. Less frequently, the mucous membranes of the nose, esophagus, genitalia, and rectum are involved. Histopathologic features, including epithelial thickening, parakeratosis, extensive vacuolization of the suprabasal keratinocytes, and compact aggregates of keratin intermediate filaments in the upper spinus layers resemble those found in epidermal disorders shown to be associated with keratin defects (summary by Richard et al., 1995).
Genetic Heterogeneity of White Sponge Nevus
White sponge nevus-2 (WSN2; 615785) is caused by mutation in the KRT13 gene (148065) on chromosome 17q21.|OMIM|N|
C4011937|The concentration of alpha-aminoadipic acid in the urine, normalized for urine concentration, is above the upper limit of normal.|HPO|N|
C4011938|The amount of 2-oxoadipic acid in the urine, normaliyed for urine concentration, is above the upper limit of normal.|HPO|N|
C4011949|Immunodeficiency-27A (IMD27A) results from autosomal recessive (AR) IFNGR1 deficiency. Patients with complete IFNGR1 deficiency have a severe clinical phenotype characterized by early and often fatal mycobacterial infections. The disorder can thus be categorized as a form of mendelian susceptibility to mycobacterial disease (MSMD). Bacillus Calmette-Guerin (BCG) and environmental mycobacteria are the most frequent pathogens, and infection typically begins before the age of 3 years. Plasma from patients with complete AR IFNGR1 deficiency usually contains large amounts of IFNG (147570), and their cells do not respond to IFNG in vitro. In contrast, cells from patients with partial AR IFNGR1 deficiency, which is caused by a specific mutation in IFNGR1, retain residual responses to high IFNG concentrations. Patients with partial AR IFNGR1 deficiency are susceptible to BCG and environmental mycobacteria, but they have a milder clinical disease and better prognosis than patients with complete AR IFNGR1 deficiency. The clinical features of children with complete AR IFNGR1 deficiency are usually more severe than those in individuals with AD IFNGR1 deficiency (IMD27B), and mycobacterial infection often occurs earlier (mean age of 1.3 years vs 13.4 years), with patients having shorter mean disease-free survival. Salmonellosis is present in about 5% of patients with AR or AD IFNGR1 deficiency, and other infections have been reported in single patients (review by Al-Muhsen and Casanova, 2008).|OMIM|N|
C4011974|Coloboma is an ocular birth defect resulting from abnormal development of the eye during embryogenesis. It is defined as a congenital defect in any ocular tissue, typically presenting as absent tissue or a gap, at a site consistent with aberrant closure of the optic fissure. Failure of fusion can lead to coloboma of 1 or multiple regions of the inferior portion of the eye affecting any part of the globe traversed by the fissure, from the iris to the optic nerve, including the ciliary body, retina, and choroid. Coloboma is also frequently associated with small (microphthalmic) or absent (anophthalmic) eyes as part of an interrelated spectrum of developmental eye anomalies, and can affect either one or both eyes (summary by Kelberman et al., 2014).
For a discussion of genetic heterogeneity of ocular coloboma, see 120200.|OMIM|N|
C4012044|Abnormally low amount of sulfur in hair.|HPO|N|
C4012050|Hennekam lymphangiectasia-lymphedema syndrome (HKLLS1) is an autosomal recessive disorder characterized by generalized lymphatic dysplasia affecting various organs, including the intestinal tract, pericardium, and limbs. Additional features of the disorder include facial dysmorphism and cognitive impairment (summary by Alders et al., 2014).
Genetic Heterogeneity of Hennekam Lymphangiectasia-Lymphedema Syndrome
See also HKLLS2 (616006), caused by mutation in the FAT4 gene (612411) on chromosome 4q28, and HKLLS3 (618154), caused by mutation in the ADAMTS3 gene (605011) on chromosome 4q13.|OMIM|N|
C4012146|Desbuquois dysplasia (DBQD) is an autosomal recessive chondrodysplasia belonging to the multiple dislocation group and characterized by severe prenatal and postnatal growth retardation (stature less than -5 SD), joint laxity, short extremities, and progressive scoliosis. The main radiologic features are short long bones with metaphyseal splay, a 'Swedish key' appearance of the proximal femur (exaggerated trochanter), and advanced carpal and tarsal bone age with a delta phalanx (summary by Huber et al., 2009).
Desbuquois dysplasia is clinically and radiographically heterogeneous, and had been classified into 2 types based on the presence (type 1) or absence (type 2) of characteristic hand anomalies, including an extra ossification center distal to the second metacarpal, delta phalanx, bifid distal thumb phalanx, and dislocation of the interphalangeal joints (Faivre et al., 2004). However, patients with and without these additional hand anomalies have been reported to have mutations in the same gene (see, e.g., CANT1); thus, these features are not distinctive criteria to predict the molecular basis of DBQD (Furuichi et al., 2011). In addition, Kim et al. (2010) described another milder variant of DBQD with almost normal outwardly appearing hands, but significant radiographic changes, including short metacarpals, elongated phalanges, and remarkably advanced carpal bone age. However, there is no accessory ossification center distal to the second metacarpal, and patients do not have thumb anomalies. Similar changes occur in the feet. These patients also tend to develop precocious osteoarthritis of the hand and spine with age. This phenotype is sometimes referred to as the 'Kim variant' of DBQD (Furuichi et al., 2011).
Genetic Heterogeneity of Desbuquois Dysplasia
DBQD2 (615777) is caused by mutation in the XYLT1 gene (608124) on chromosome 16p12.
Two unrelated patients with immunodeficiency-23 (IMD23; 615816), due to mutation in the PGM3 gene (172100), were reported to have skeletal features reminiscent of DBQD.|OMIM|N|
C4012261|Incisor teeth with irregular edges said to resemble a saw.|HPO|N|
C4012268|Tetraamelia syndrome-1 (TETAMS1) is characterized by complete limb agenesis without defects of scapulae or clavicles. Other features include bilateral cleft lip/palate, diaphragmatic defect with bilobar right lung, renal and adrenal agenesis, pelvic hypoplasia, and urogenital defects (Niemann et al., 2004).
Genetic Heterogeneity of tetraamelia syndrome
Tetraamelia syndrome-2 (TETAMS2; 618021) is caused by mutation in the RSPO2 gene (610575) on chromosome 8q23.|OMIM|N|
C4012395|A form of congenital disorders of N-linked glycosylation with characteristics of neurologic abnormalities (global developmental delay in language, social skills and fine and gross motor development, intellectual disability, hypotonia, microcephaly, seizures/epilepsy), facial dysmorphism (deep set eyes, large ears, hypoplastic vermillion of upper lip, large mouth with widely spaced teeth), feeding problems often due to chewing difficulties and aversion to food with certain textures, failure to thrive, gastrointestinal abnormalities (reflux or vomiting) and strabismus. The disease is caused by mutations in the gene SSR4 (Xq28).|SNOMEDCT_US|N|
C4012409|Any pituitary gland adenoma in which the cause of the disease is a mutation in the GPR101 gene.|MONDO|N|
C4012422|Degeneration and loss of neruons in the substantia nigra of the brain.|HPO|N|
C4012454|A rare, syndromic diabetes mellitus characterized by partial pancreatic agenesis, diabetes mellitus, and heart anomalies (including transposition of the great vessels, ventricular or atrial septal defects, pulmonary stenosis, or patent ductus arteriosis).|ORDO|N|
C4012727|MPPH (megalencephaly-postaxial polydactyly-polymicrogyria-hydrocephalus) syndrome is a developmental brain disorder characterized by megalencephaly (brain overgrowth) with the cortical malformation bilateral perisylvian polymicrogyria (BPP). At birth the occipital frontal circumference (OFC) ranges from normal to 6 standard deviations (SD) above the mean for age, sex, and gestational age; in older individuals the range is from 3 to 10 SD above the mean. A variable degree of ventriculomegaly is seen in almost all children with MPPH syndrome; nearly 50% of individuals have frank hydrocephalus. Neurologic problems associated with BPP include oromotor dysfunction (100%), epilepsy (50%), and mild-to-severe intellectual disability (100%). Postaxial hexadactyly occurs in 50% of individuals with MPPH syndrome.|GeneReviews|N|
C4012746|A falcine sinus that does not involute but persists beyond birth is defined as a persistent falcine sinus. In the 20-mm embryo stage, the primitive falx cerebri contains the sagittal plexus, a meshwork of anastomotic venous channels from which the superior sagittal sinus and straight sinus are thought to develop. A persistent falcine sinus represents a persistent channel of the caudal anastomotic loops of the sagittal plexus.|HPO|N|
C4012790|Ataxia-telangiectasia-like disorder-1 is an autosomal recessive disorder characterized clinically by progressive cerebellar degeneration resulting in ataxia and oculomotor apraxia. Laboratory studies of patient cells showed increased susceptibility to radiation, consistent with a defect in DNA repair. The disorder shares some phenotypic features of ataxia-telangiectasia (AT; 208900), but telangiectases and immune deficiency are not present in ATLD1 (summary by Hernandez et al., 1993 and Stewart et al., 1999).
Genetic Heterogeneity of Ataxia-Telangiectasia-Like Disorder
See also ATLD2 (615919), caused by mutation in the PCNA gene (176740) on chromosome 20p12.|OMIM|N|
C4012968|A mild delay in the achievement of motor or mental milestones in the domains of development of a child.|HPO|N|
C4013102|Leber congenital amaurosis, also known as LCA, is an eye disorder that is present from birth (congenital). This condition primarily affects the retina, which is the specialized tissue at the back of the eye that detects light and color. People with this disorder typically have severe visual impairment beginning at birth or shortly afterward. The visual impairment tends to be severe and may worsen over time.\n\nLeber congenital amaurosis is also associated with other vision problems, including an increased sensitivity to light (photophobia), involuntary movements of the eyes (nystagmus), and extreme farsightedness (hyperopia). The pupils, which usually expand and contract in response to the amount of light entering the eye, do not react normally to light. Instead, they expand and contract more slowly than normal, or they may not respond to light at all.\n\nA specific behavior called Franceschetti's oculo-digital sign is characteristic of Leber congenital amaurosis. This sign consists of affected individuals poking, pressing, and rubbing their eyes with a knuckle or finger. Poking their eyes often results in the sensation of flashes of light called phosphenes. Researchers suspect that this behavior may contribute to deep-set eyes in affected children.\n\nAt least 20 genetic types of Leber congenital amaurosis have been described. The types are distinguished by their genetic cause, patterns of vision loss, and related eye abnormalities.\n\nIn very rare cases, delayed development and intellectual disability have been reported in people with the features of Leber congenital amaurosis. Because of the visual loss, affected children may become isolated. Providing children with opportunities to play, hear, touch, understand and other early educational interventions may prevent developmental delays in children with Leber congenital amaurosis.|MedlinePlus Genetics|N|
C4013260|A migrating focal seizure is a seizure that involves different body parts, usually without overlap, in a consecutive manner so that the offset of a seizure in one part coincides with its onset in another, even shifting multiple times between the sides of the body. They can be associated with autonomic manifestations.|HPO|N|
C4013425|A malignant, high grade neuroendocrine neoplasm that arises from the cervix. This category includes small cell and large cell neuroendocrine carcinoma.|NCI|N|
C4013429|Decreased posterolateral protrusion of the tragus.|HPO|N|
C4013473|Childhood absence epilepsy and juvenile myoclonic epilepsy are both subtypes of what has classically been called idiopathic generalized epilepsy (IGE, EIG; see 600669).
For a phenotypic description and a discussion of genetic heterogeneity of idiopathic generalized epilepsy, see 600669.
For a phenotypic description and a discussion of genetic heterogeneity of juvenile myoclonic epilepsy and childhood absence epilepsy, see ECA1 (600131) and JME (254770), respectively.|OMIM|N|
C4013560|Familial atrial fibrillation is an inherited abnormality of the heart's normal rhythm. Atrial fibrillation is characterized by episodes of uncoordinated electrical activity (fibrillation) in the heart's upper chambers (the atria), which cause a fast and irregular heartbeat. If untreated, this abnormal heart rhythm (arrhythmia) can lead to dizziness, chest pain, a sensation of fluttering or pounding in the chest (palpitations), shortness of breath, or fainting (syncope). Atrial fibrillation also increases the risk of stroke and sudden death. Complications of atrial fibrillation can occur at any age, although some people with this heart condition never experience any health problems associated with the disorder.|MedlinePlus Genetics|N|
C4013575|Telangiectasias (small dilated blood vessels located near the surface of the skin or mucous membranes) located in the trachoebronchial system.|HPO|N|
C4013648|Polymicrogyria is a condition characterized by abnormal development of the brain before birth. The surface of the brain normally has many ridges or folds, called gyri. In people with polymicrogyria, the brain develops too many folds, and the folds are unusually small. The name of this condition literally means too many (poly-) small (micro-) folds (-gyria) in the surface of the brain.\n\nPolymicrogyria can affect part of the brain or the whole brain. When the condition affects one side of the brain, researchers describe it as unilateral. When it affects both sides of the brain, it is described as bilateral. The signs and symptoms associated with polymicrogyria depend on how much of the brain, and which particular brain regions, are affected.\n\nResearchers have identified multiple forms of polymicrogyria. The mildest form  is known as unilateral focal polymicrogyria. This form of the condition affects a relatively small area on one side of the brain. It may cause minor neurological problems, such as mild seizures that can be easily controlled with medication. Some people with unilateral focal polymicrogyria do not have any problems associated with the condition.\n\nBilateral forms of polymicrogyria tend to cause more severe neurological problems. Signs and symptoms of these conditions can include recurrent seizures (epilepsy), delayed development, crossed eyes, problems with speech and swallowing, and muscle weakness or paralysis. The most severe form of the disorder, bilateral generalized polymicrogyria, affects the entire brain. This condition causes severe intellectual disability, problems with movement, and seizures that are difficult or impossible to control with medication.\n\nPolymicrogyria most often occurs as an isolated feature, although it can occur with other brain abnormalities. It is also a feature of several genetic syndromes characterized by intellectual disability and multiple birth defects. These include 22q11.2 deletion syndrome, Adams-Oliver syndrome, Aicardi syndrome, Galloway-Mowat syndrome, Joubert syndrome, and Zellweger spectrum disorder.|MedlinePlus Genetics|N|
C4013699|Familial atrial fibrillation is an inherited abnormality of the heart's normal rhythm. Atrial fibrillation is characterized by episodes of uncoordinated electrical activity (fibrillation) in the heart's upper chambers (the atria), which cause a fast and irregular heartbeat. If untreated, this abnormal heart rhythm (arrhythmia) can lead to dizziness, chest pain, a sensation of fluttering or pounding in the chest (palpitations), shortness of breath, or fainting (syncope). Atrial fibrillation also increases the risk of stroke and sudden death. Complications of atrial fibrillation can occur at any age, although some people with this heart condition never experience any health problems associated with the disorder.|MedlinePlus Genetics|N|
C4013764|Intellectual developmental disorder with language impairment and with or without autistic features is a neurodevelopmental disorder characterized by global developmental delay with moderate to severe speech delay that particularly affects expressive speech. Most patients have articulation defects, but frank verbal dyspraxia is not observed. Common dysmorphic features include broad forehead, downslanting palpebral fissures, short nose with broad tip, relative macrocephaly, frontal hair upsweep, and prominent digit pads. Gross motor skills are also delayed. Some patients have autistic features and/or behavioral problems. All reported cases have occurred de novo (review by Le Fevre et al., 2013).|OMIM|N|
C4013878|Greater than normal amount of skin surrounding the umbilicus (belly button) with protrusion of the umbilicus above the plane of the abdomen.|HPO|N|
C4013947|IMD28 is caused by autosomal recessive (AR) IFNGR2 deficiency, a rare molecular cause of susceptibility to mycobacterial disease. The clinical presentation of complete AR IFNGR2 deficiency resembles that of complete IFNGR1 deficiency (IMD27A; 209950). The disease manifests early in life, with severe, often fatal, infection. The most commonly encountered pathogens include M. bovis bacillus Calmette-Guerin (BCG), M. avium, and M. fortuitum. Complete AR IFNGR2 deficiency is characterized by an undetectable cellular response to interferon-gamma (IFNG; 147570). There is also a rare partial form of AR IFNGR2 deficiency, reported in 1 child, who retained a residual cellular response to IFNG and presented with a relatively mild infection by M. bovis BCG and M. abscessus (review by Al-Muhsen and Casanova, 2008).|OMIM|N|
C4013948|IMD29 results from autosomal recessive IL12B deficiency and is characterized by undetectable IL12B secretion from leukocytes. IL12B-deficient patients generally present with bacillus Calmette-Guerin (BCG) disease after vaccination in childhood, and at least half also have Salmonella infection. Infections with Mycobacterium tuberculosis and environmental mycobacteria have also been reported in IL12B-deficient patients. The phenotype is relatively mild, and patients have a good prognosis (review by Al-Muhsen and Casanova, 2008).|OMIM|N|
C4013949|IMD30 results from autosomal recessive IL12RB1 deficiency and is the most common form of susceptibility to mycobacterial disease. Activated T and natural killer lymphocytes from IMD30 patients do not express IL12RB1 on their surface or, more rarely, express nonfunctional IL12RB1 on their surface. IMD30 patients therefore lack responses to IL12 (see 161560) and IL23 (see 605580). The clinical presentation of IL12RB1-deficient patients is similar to that of IL12B-deficient patients (see IMD29, 614890). Bacillus Calmette-Guerin (BCG) disease and salmonellosis are the most frequent infections. Salmonellosis is present in about half of IL12RB1-deficient patients, and significant numbers of patients present with isolated salmonellosis. Severe tuberculosis has been reported in several unrelated patients, and other infections have been reported in single patients. IMD30 has low penetrance, and patients have relatively mild disease and good prognosis (review by Al-Muhsen and Casanova, 2008).|OMIM|N|
C4013950|Immunodeficiency-31A (IMD31A) results from autosomal dominant (AD) STAT1 deficiency. STAT1 is crucial for cellular responses to IFNA (147660)/IFNB (147640) (type I interferon) and IFNG (147570) (type III interferon). AD STAT1 deficiency selectively affects the IFNG pathway, but not the IFNA/IFNB pathway, and confers a predisposition to mycobacterial infections. Pathogens reported in IMD31A patients include bacillus Calmette-Guerin (BCG) and Mycobacterium avium complex, as well as Mycobacterium tuberculosis. IMD31A has low penetrance and a mild clinical phenotype with good prognosis for recovery (review by Al-Muhsen and Casanova, 2008).
Two patients with heterozygous STAT1 mutations have been reported with increased susceptibility to adult-onset herpes simplex encephalitis (HSE) without a history of other significant infections (Mork et al., 2015).|OMIM|N|
C4014233|Immunodeficiency-22 (IMD22) is an autosomal recessive disorder characterized by the onset of recurrent bacterial, viral, and fungal respiratory, gastrointestinal, and skin infections in infancy or early childhood. Immunologic workup shows severe T-cell lymphopenia, particularly affecting the CD4+ subset, and impaired proximal TCR intracellular signaling and activation. Although NK cells and B cells are normal, some patients may have hypogammaglobulinemia secondary to the T-cell defect. There are variable manifestations, likely due to the severity of the particular LCK mutation: patients may develop prominent skin lesions resembling epidermodysplasia verruciformis, gastrointestinal inflammation, and virus-induced malignancy. The disease can be fatal in childhood, but hematopoietic stem cell transplant (HSCT) may be curative (Hauck et al., 2012; Li et al., 2016; Keller et al., 2023).|OMIM|N|
C4014239|Progressive microcephaly with seizures and cerebral and cerebellar atrophy is a severe autosomal recessive neurodevelopmental and neurodegenerative disorder with onset in the first days or months of life. Patients are born with microcephaly and soon develop intractable seizures, resulting in profoundly delayed development and hypotonia (summary by Zhang et al., 2014).|OMIM|N|
C4014269|Atrial fibrillation (AF) is a supraventricular tachyarrhythmia characterized by uncoordinated atrial activation with consequent deterioration of atrial mechanical function. It is the most common sustained cardiac rhythm disturbance, and its prevalence increases as the population ages. An estimated 70,000 strokes each year are caused by atrial fibrillation (summary by Oberti et al., 2004).
For a discussion of genetic heterogeneity of atrial fibrillation, see 608583.|OMIM|N|
C4014283|Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBB gene.|MONDO|N|
C4014291|Female infertility due to zona pellucida defect is a rare, genetic, female infertility disorder characterized by the presence of abnormal oocytes that lack a zona pellucida. Affected individuals are unable to conceive despite having normal menstrual cycles and sex hormone levels, as well as no obstructions in the fallopian tubes or defects of the uterus or adnexa.|ORDO|N|
C4014294|Desbuquois dysplasia, which belongs to the multiple dislocation group of disorders, is characterized by dislocations of large joints, severe pre- and postnatal growth retardation, joint laxity, and flat face with prominent eyes. Radiologic features include short long bones with an exaggerated trochanter that gives a 'monkey wrench' appearance to the proximal femur, and advanced carpal and tarsal ossification (summary by Bui et al., 2014).
For a discussion of genetic heterogeneity of Desbuquois dysplasia, see DBQD1 (251450).|OMIM|N|
C4014299|The femoral neck region shows medial metaphyseal beaking and a significant enlargement of the lesser trochanter (with some enlargement also of the greater trochanter), producing a monkey wrench (Swedish key) configuration of the proximal femur. A monkey wrench refers to a type of adjustable wrench with one fixed and one adjustable jaw at right angles to a straight handle.|HPO|N|
C4014310|The multiple types of congenital heart defects observed in CHTD4 include atrial, ventricular, and atrioventricular septal defects, double-outlet right ventricle, tetralogy of Fallot, hypoplastic left heart syndrome, aortic stenosis, and coarctation of the aorta. Intrafamilial variability and incomplete penetrance has been reported (Al Turki et al., 2014; Qiao et al., 2018). Some patients exhibit syndromic features such as developmental delay, congenital diaphragmatic hernia, and severe gastroesophageal reflux (High et al., 2016; Upadia et al., 2018).
For a discussion of genetic heterogeneity of multiple types of congenital heart defects, see CHTD1 (306955).|OMIM|N|
C4014312|Retinitis pigmentosa (RP), also designated rod-cone dystrophy, is characterized by initial night blindness due to rod dysfunction, with subsequent progressive constriction of visual fields, abnormal color vision, and eventual loss of central vision due to cone photoreceptor involvement (summary by El Shamieh et al., 2014).
For a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000.|OMIM|N|
C4014321|White sponge nevus can be present from birth but usually first appears during early childhood. The size and location of the nevi can change over time. In the oral mucosa, both sides of the mouth are usually affected. The nevi are generally painless, but the folds of extra tissue can promote bacterial growth, which can lead to infection that may cause discomfort. The altered texture and appearance of the affected tissue, especially the oral mucosa, can be bothersome for some affected individuals.\n\nWhite sponge nevus is a condition characterized by the formation of white patches of tissue called nevi (singular: nevus) that appear as thickened, velvety, sponge-like tissue. The nevi are most commonly found on the moist lining of the mouth (oral mucosa), especially on the inside of the cheeks (buccal mucosa). Affected individuals usually develop multiple nevi. Rarely, white sponge nevi also occur on the mucosae (singular: mucosa) of the nose, esophagus, genitals, or anus. The nevi are caused by a noncancerous (benign) overgrowth of cells.|MedlinePlus Genetics|N|
C4014339|Rothmund-Thomson syndrome type 3 (RTS3) is characterized by poikiloderma, sparse hair, short stature, and skeletal defects. Patients also exhibit microcephaly, with moderate to severe neurodevelopmental delay and seizures (Averdunk et al., 2023).
For a general phenotypic description and discussion of genetic heterogeneity of Rothmund-Thomson syndrome, see RTS2 (268400).|OMIM|N|
C4014343|Neurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalities (NEDDSBA) is an autosomal recessive neurodevelopmental disorder characterized by severely delayed global development, with hypotonia, impaired intellectual development, and poor or absent speech. Most patients have spasticity with limb hypertonia and brisk tendon reflexes. Additional features include nonspecific dysmorphic facial features, structural brain abnormalities, and cortical visual impairment (summary by Bosch et al., 2015). Novarino et al. (2014) labeled the disorder 'spastic paraplegia-67' (SPG67). The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis.
For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (610293).|OMIM|N|
C4014354|Pontocerebellar hypoplasia type 9 (PCH9) is an autosomal recessive neurodevelopmental and neurodegenerative disorder characterized by severely delayed psychomotor development, progressive microcephaly, spasticity, seizures, and brain abnormalities, including brain atrophy, thin corpus callosum, and delayed myelination (summary by Akizu et al., 2013).
For a general phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1 (607596).|OMIM|N|
C4014361|Any metabolic syndrome in which the cause of the disease is a mutation in the DYRK1B gene.|MONDO|N|
C4014371|IMD23 is an autosomal recessive primary immunodeficiency syndrome characterized by onset of recurrent infections, usually respiratory or cutaneous, in early childhood. Immune workup usually shows neutropenia, lymphopenia, eosinophilia, and increased serum IgE or IgA. Neutrophil chemotactic defects have also been reported. Infectious agents include bacteria, viruses, and fungi. Many patients develop atopic dermatitis, eczema, and other signs of autoinflammation. Affected individuals may also show developmental delay or cognitive impairment of varying severity (summary by Bjorksten and Lundmark, 1976 and Zhang et al., 2014).|OMIM|N|
C4014386|Autosomal recessive intellectual developmental disorder-43 (MRT43) is characterized by impaired intellectual development, poor language skills, short stature, and dysmorphic features. Some patients may have significant motor delays (summary by Gangfuss et al., 2022).|OMIM|N|
C4014393|Keratoderma with woolly hair is a group of related conditions that affect the skin and hair and in many cases increase the risk of potentially life-threatening heart problems. People with these conditions have hair that is unusually coarse, dry, fine, and tightly curled. In some cases, the hair is also sparse. The woolly hair texture typically affects only scalp hair and is present from birth. Starting early in life, affected individuals also develop palmoplantar keratoderma, a condition that causes skin on the palms of the hands and the soles of the feet to become thick, scaly, and calloused.\n\nCardiomyopathy, which is a disease of the heart muscle, is a life-threatening health problem that can develop in people with keratoderma with woolly hair. Unlike the other features of this condition, signs and symptoms of cardiomyopathy may not appear until adolescence or later. Complications of cardiomyopathy can include an abnormal heartbeat (arrhythmia), heart failure, and sudden death.\n\nKeratoderma with woolly hair comprises several related conditions with overlapping signs and symptoms. Researchers have recently proposed classifying keratoderma with woolly hair into four types, based on the underlying genetic cause. Type I, also known as Naxos disease, is characterized by palmoplantar keratoderma, woolly hair, and a form of cardiomyopathy called arrhythmogenic right ventricular cardiomyopathy (ARVC). Type II, also known as Carvajal syndrome, has hair and skin abnormalities similar to type I but features a different form of cardiomyopathy, called dilated left ventricular cardiomyopathy. Type III also has signs and symptoms similar to those of type I, including ARVC, although the hair and skin abnormalities are often milder. Type IV is characterized by palmoplantar keratoderma and woolly and sparse hair, as well as abnormal fingernails and toenails. Type IV does not appear to cause cardiomyopathy.|MedlinePlus Genetics|N|
C4014408|Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the UQCC2 gene.|MONDO|N|
C4014414|Vulto-van Silfout-de Vries syndrome (VSVS) is an intellectual developmental disorder characterized by delayed psychomotor development, poor expressive speech, and behavioral abnormalities, including autistic features and poor eye contact. Most patients have additional nonspecific features, including hypotonia and gait abnormalities, seizures, which may be refractory, high pain threshold, and sleep disturbances (summary by Nabais Sa et al., 2019).|OMIM|N|
C4014419|The main features of Xia-Gibbs syndrome (XGS), present in a majority of affected individuals, include delayed motor milestones, speech delay with severely limited or absent speech, moderate-to-severe cognitive impairment, hypotonia, structural brain anomalies, and nonspecific dysmorphic features. Other features may include sleep apnea, movement disorders (ataxia, tremors, and bradykinesias) that often become apparent in childhood or adolescence, short stature, seizures, eye anomalies, behavioral concerns, autism spectrum disorder, scoliosis, and laryngomalacia.|GeneReviews|N|
C4014425|Cushing syndrome is a clinical designation for the systemic signs and symptoms arising from excess cortisol production. Affected individuals typically show hypertension, impaired glucose tolerance, central obesity, osteoporosis, and sometimes depression. Corticotropin-independent Cushing syndrome results from autonomous cortisol production by the adrenal glands, often associated with adrenocortical tumors. Adrenocortical tumors are most common in adult females (summary by Cao et al., 2014; Sato et al., 2014).|OMIM|N|
C4014430|Developmental and epileptic encephalopathy-21 (DEE21) is an autosomal recessive neurologic disorder characterized by the onset of intractable seizures in the first months of life. Affected individuals have severely impaired psychomotor development with poor head control and inability to fix and follow visually. Other features may include axial hypotonia, peripheral hypertonia, and cerebral atrophy or delayed myelination on brain imaging (summary by Alazami et al., 2014 and Alsahli et al., 2018).
For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350.|OMIM|N|
C4014435|A rare genetic syndromic intellectual disability characterized by global developmental delay and borderline to severe intellectual disability, autism spectrum disorder with obsessive behavior, stereotypies, hyperactivity but frequently friendly and affable personality, feeding difficulties, short stature, muscular hypotonia, microcephaly, characteristic dysmorphic features (hypertelorism, high arched eyebrows, ptosis, deep and/or broad nasal bridge, broad/prominent nasal tip, short and/or upturned philtrum, narrow mouth, and micrognathia), and skeletal anomalies (kyphosis and/or scoliosis, arthrogryposis, slender habitus and extremities). Other clinical features may include hernias, congenital heart defects, cryptorchidism and seizures.|ORDO|N|
C4014440|Mitochondrial complex III deficiency, nuclear type 8, is an autosomal recessive disorder characterized by progressive neurodegeneration with onset in childhood. Affected individuals may have normal or delayed early development, and often have episodic acute neurologic decompensation and regression associated with febrile illnesses. The developmental regression results in variable intellectual disability and motor deficits, such as hypotonia, axial hypertonia, and spasticity; some patients may lose the ability to walk independently. Laboratory studies show increased serum lactate and isolated deficiency of mitochondrial complex III in skeletal muscle and fibroblasts. Brain imaging shows a characteristic pattern of multifocal small cystic lesions in the periventricular and deep cerebral white matter (summary by Dallabona et al., 2016).
For a discussion of genetic heterogeneity of mitochondrial complex III deficiency, see MC3DN1 (124000).|OMIM|N|
C4014449|Any azoospermia in which the cause of the disease is a mutation in the TAF4B gene.|MONDO|N|
C4014454|Any azoospermia in which the cause of the disease is a mutation in the ZMYND15 gene.|MONDO|N|
C4014476|POT1 tumor predisposition (POT1-TPD) is characterized by an increased lifetime risk for multiple cutaneous melanomas, chronic lymphocytic leukemia (CLL), angiosarcoma (particularly cardiac angiosarcomas), and gliomas. Additional cancers (e.g., colorectal cancer, thyroid cancer, breast angiosarcomas) have been reported in individuals with POT1-TPD but with very limited evidence. The age of onset for first primary cutaneous melanoma ranges from 15 to 80 years. The majority of POT1 associated cancers are diagnosed in adulthood.|GeneReviews|N|
C4014479|Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome is a rare, genetic developmental defect during embryogenesis disorder characterized primarily by congenital hypopituitarism and/or postaxial polydactyly. It can be associated with short stature, delayed bone age, hypogonadotropic hypogonadism, and/or midline facial defects (e.g. hypotelorism, mild midface hypoplasia, flat nasal bridge, and cleft lip and/or palate). Hypoplastic anterior pituitary and ectopic posterior pituitary lobe are frequent findings on MRI examination.|ORDO|N|
C4014488|Pontocerebellar hypoplasia type 2E is an autosomal recessive neurodegenerative disorder characterized by profound mental retardation, progressive microcephaly, spasticity, and early-onset epilepsy (summary by Feinstein et al., 2014).
For a general phenotypic description and a discussion of genetic heterogeneity of pontocerebellar hypoplasia type 2, see PCH2A (277470).|OMIM|N|
C4014492|Developmental and epileptic encephalopathy-23 (DEE23) is an autosomal recessive neurologic disorder characterized by the onset of intractable seizures in the first months of life (range, 2-6 months). Affected individuals have severely impaired psychomotor development with poor or absent speech, cortical blindness, and dysmorphic facial features (summary by Perrault et al., 2014).|OMIM|N|
C4014501|The first signs and symptoms of cone-rod dystrophy, which often occur in childhood, are usually decreased sharpness of vision (visual acuity) and increased sensitivity to light (photophobia). These features are typically followed by impaired color vision (dyschromatopsia), blind spots (scotomas) in the center of the visual field, and partial side (peripheral) vision loss. Over time, affected individuals develop night blindness and a worsening of their peripheral vision, which can limit independent mobility. Decreasing visual acuity makes reading increasingly difficult and most affected individuals are legally blind by mid-adulthood. As the condition progresses, individuals may develop involuntary eye movements (nystagmus).\n\nThere are more than 30 types of cone-rod dystrophy, which are distinguished by their genetic cause and their pattern of inheritance: autosomal recessive, autosomal dominant, and X-linked. Additionally, cone-rod dystrophy can occur alone without any other signs and symptoms or it can occur as part of a syndrome that affects multiple parts of the body.\n\nCone-rod dystrophy is a group of related eye disorders that causes vision loss, which becomes more severe over time. These disorders affect the retina, which is the layer of light-sensitive tissue at the back of the eye. In people with cone-rod dystrophy, vision loss occurs as the light-sensing cells of the retina gradually deteriorate.|MedlinePlus Genetics|N|
C4014507|Any nephrotic syndrome in which the cause of the disease is a mutation in the EMP2 gene.|MONDO|N|
C4014516|Diarrhea-7 (DIAR7) is a protein-losing enteropathy characterized by early-onset nonbloody watery diarrhea and unresponsiveness to soy-based or elemental formulas. Patients experience failure to thrive, hypogammaglobulinemia with recurrent infections, and require albumin infusions and parenteral nutrition. Hypertriglyceridemia and digital clubbing have been observed (Stephen et al., 2016). The malabsorption can result in severe deficiency of vitamin D and other nutrients (Gupta et al., 2020).
For a discussion of genetic heterogeneity of diarrhea, see DIAR1 (214700).|OMIM|N|
C4014528|Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism (IDDMOH) is characterized by mildly impaired intellectual development and microcephaly. Patients may also have ocular malformations, ocular apraxia, or hypogonadotropic hypogonadism. The disorder shows a unique DNA methylation signature (summary by Al-Jawahiri et al., 2022).|OMIM|N|
C4014531|Developmental and epileptic encephalopathy-24 (DEE24) is a neurologic disorder characterized by onset of refractory seizures in infancy, severely impaired global development, intellectual disability, and behavioral abnormalities. Most patients have onset of variable types of seizures between 4 and 13 months of age, but earlier onset in the first days of life has also been reported. Seizures are often triggered by fever, at least initially; status epilepticus may occur (summary by Nava et al., 2014 and Marini et al., 2018).
For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350.|OMIM|N|
C4014534|Primary ciliary dyskinesia-29 is an autosomal recessive disorder characterized by early childhood onset of recurrent respiratory infections due to defective mucociliary clearance. Patients do not have situs inversus (summary by Wallmeier et al., 2014).
For a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see 244400.|OMIM|N|
C4014538|ADNP-related disorder is characterized by hypotonia, severe speech and motor delay, mild-to-severe intellectual disability, and characteristic facial features (prominent forehead, high anterior hairline, wide and depressed nasal bridge, and short nose with full, upturned nasal tip) based on a cohort of 78 individuals. Features of autism spectrum disorder are common (stereotypic behavior, impaired social interaction). Other common findings include additional behavioral problems, sleep disturbance, brain abnormalities, seizures, feeding issues, gastrointestinal problems, visual dysfunction (hypermetropia, strabismus, cortical visual impairment), musculoskeletal anomalies, endocrine issues including short stature and hormonal deficiencies, cardiac and urinary tract anomalies, and hearing loss.|GeneReviews|N|
C4014540|Colobomatous microphthalmia-rhizomelic dysplasia syndrome is a rare, genetic developmental defect during embryogenesis characterized by a range of developmental eye anomalies (including anophthalmia, microphthalmia, colobomas, microcornea, corectopia, cataract) and symmetric limb rhizomelia with short stature and contractures of large joints. Intellectual disability with autistic features, macrocephaly, dysmorphic features, urogenital anomalies (hypospadia, cryptorchidism), cutaneous syndactyly and precocious puberty may also be present.|ORDO|N|
C4014545|Tatton-Brown-Rahman syndrome (TBRS) is an overgrowth / intellectual disability syndrome characterized by length/height and/or head circumference =2 SD above the mean for age and sex, obesity / increased weight, intellectual disability that ranges from mild to severe, joint hypermobility, hypotonia, behavioral/psychiatric issues, kyphoscoliosis, and seizures. Individuals with TBRS have subtle dysmorphic features, including a round face with coarse features, thick horizontal low-set eyebrows, narrow (as measured vertically) palpebral fissures, and prominent upper central incisors. The facial gestalt is most easily recognizable in the teenage years. TBRS may be associated with an increased risk of developing acute myeloid leukemia. There are less clear associations with aortic root dilatation and increased risk of other hematologic and solid tumors.|GeneReviews|N|
C4014557|Any tubular aggregate myopathy in which the cause of the disease is a mutation in the ORAI1 gene.|MONDO|N|
C4014563|Any hypotrichosis in which the cause of the disease is a mutation in the RPL21 gene.|MONDO|N|
C4014578|Autosomal recessive amelogenesis imperfecta of the pigmented hypomaturation type is characterized by enamel of normal thickness that is hypomineralized and has a mottled appearance. The slightly soft enamel detaches easily from the dentin, and radiographs show a lack of contrast between enamel and dentin (Witkop, 1989).|OMIM|N|
C4014584|Bleeding disorder due to CalDAG-GEFI deficiency is a rare hematologic disease due to defective platelet function and characterized by mucocutaneous bleeding starting in infancy (around 18 months of age), presenting with prolonged and severe epistaxis, hematomas and bleeding after tooth extraction. Massive menorrhagia and chronic anemia have also been reported.|ORDO|N|
C4014588|Progressive leukoencephalopathy with ovarian failure is an autosomal recessive neurodegenerative disorder characterized by loss of motor and cognitive skills, usually with onset in young adulthood. Some patients may have a history of delayed motor development or learning difficulties in early childhood. Neurologic decline is severe, usually resulting in gait difficulties, ataxia, spasticity, and cognitive decline and dementia. Most patients lose speech and become wheelchair-bound or bedridden. Brain MRI shows progressive white matter signal abnormalities in the deep white matter. Affected females develop premature ovarian failure (summary by Dallabona et al., 2014).|OMIM|N|
C4014596|Familial median cleft of the upper and lower lips is a rare and isolated orofacial defect characterized by incomplete median clefts of both the lower lip (limited to the vermilion, with no muscle involvement) and upper lip (with muscle involvement), double labial frenulum and fusion of the upper gingival and upper labial mucosa (resulting in a shallow upper vestibular fold), in addition to poor dental alignment, and increased interdental distance between the lower and upper median incisors. Variable expressivity has been reported in an affected family.|ORDO|N|
C4014605|Polyglucosan body myopathy-1 (PGBM1) is an autosomal recessive disorder characterized by onset in childhood of progressive proximal muscle weakness, resulting in difficulties in ambulation. Most patients also develop progressive dilated cardiomyopathy, which may necessitate cardiac transplant in severe cases. A small subset of patients present with severe immunodeficiency and a hyperinflammatory state in very early childhood (summary by Boisson et al., 2012 and Nilsson et al., 2013).
Genetic Heterogeneity of Polyglucosan Body Myopathy
See also PGBM2 (616199), caused by mutation in the GYG1 gene (603942) on chromosome 3q24.|OMIM|N|
C4014616|Any hypotrichosis in which the cause of the disease is a mutation in the KRT71 gene.|MONDO|N|
C4014617|IMD24 is an autosomal recessive immunodeficiency characterized by the impaired capacity of activated T and B cells to proliferate in response to antigen receptor-mediated activation. Patients have early onset of severe chronic viral infections, mostly caused by herpesviruses, including Epstein-Barr virus (EBV) and varicella zoster virus (VZV); they also suffer from recurrent encapsulated bacterial infections, a spectrum typical of a combined deficiency of adaptive immunity (CID) (summary by Martin et al., 2014).|OMIM|N|
C4014621|Developmental and epileptic encephalopathy-25 with amelogenesis imperfecta (DEE25) is an autosomal recessive neurologic disorder characterized by the onset of refractory seizures in early infancy. Most patients present with seizures in the neonatal period, which is often associated with status epilepticus. However, there is phenotypic variability, and some patients have onset of seizures later in infancy. Affected individuals show global developmental delay with intellectual disability and poor speech and communication. The seizures may remit somewhat with age, but there are persistent neurologic symptoms, including ataxia, spasticity, and abnormal involuntary movements. In addition to neurologic deficits, patients also have dental anomalies with amelogenesis imperfecta (summary by Thevenon et al., 2014 and Schossig et al., 2017).
For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350.|OMIM|N|
C4014641|Diamond-Blackfan anemia (DBA) is characterized by a profound normochromic and usually macrocytic anemia with normal leukocytes and platelets, congenital malformations in up to 50%, and growth deficiency in 30% of affected individuals. The hematologic complications occur in 90% of affected individuals during the first year of life. The phenotypic spectrum ranges from a mild form (e.g., mild anemia or no anemia with only subtle erythroid abnormalities, physical malformations without anemia) to a severe form of fetal anemia resulting in nonimmune hydrops fetalis. DBA is associated with an increased risk for acute myelogenous leukemia (AML), myelodysplastic syndrome (MDS), and solid tumors including osteogenic sarcoma.|GeneReviews|N|
C4014648|CHCHD10-related disorders are characterized by a spectrum of adult-onset neurologic phenotypes that can include: Mitochondrial myopathy (may also be early onset): weakness, amyotrophy, exercise intolerance. Amyotrophic lateral sclerosis (ALS): progressive degeneration of upper motor neurons and lower motor neurons. Frontotemporal dementia (FTD): slowly progressive behavioral changes, language disturbances, cognitive decline, extrapyramidal signs. Late-onset spinal motor neuronopathy (SMA, Jokela type): weakness, cramps, and/or fasciculations; areflexia. Axonal Charcot-Marie-Tooth neuropathy: slowly progressive lower-leg muscle weakness and atrophy, small hand muscle weakness, loss of tendon reflexes, sensory abnormalities. Cerebellar ataxia: gait ataxia, kinetic ataxia (progressive loss of coordination of lower- and upper-limb movements), dysarthria/dysphagia, nystagmus, cerebellar oculomotor disorder. Because of the recent discovery of CHCHD10-related disorders and the limited number of affected individuals reported to date, the natural history of these disorders (except for SMAJ caused by the p.Gly66Val pathogenic variant) is largely unknown.|GeneReviews|N|
C4014650|Any structural anomaly of the mitochondria.|HPO|N|
C4014656|Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the RAF1 gene.|MONDO|N|
C4014660|Combined oxidative phosphorylation defect type 20 is a rare mitochondrial oxidative phosphorylation disorder characterized by variable combination of psychomotor delay, hypotonia, muscle weakness, seizures, microcephaly, cardiomyopathy and mild dysmorphic facial features. Variable types of structural brain anomalies have also been reported. Biochemical studies typically show decreased activity of mitochondrial complexes (mainly complex I).|ORDO|N|
C4014676|Ataxia-telangiectasia-like disorder-2 is an autosomal recessive syndrome resulting from defects in DNA excision repair. Affected individuals have a neurodegenerative phenotype characterized by developmental delay, ataxia, and sensorineural hearing loss. Other features include short stature, cutaneous and ocular telangiectasia, and photosensitivity (summary by Baple et al., 2014).
For a discussion of genetic heterogeneity of ATLD, see ATLD1 (604391).|OMIM|N|
C4014681|Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF4 gene.|MONDO|N|
C4014690|Miura-type epiphyseal chondrodysplasia (ECDM) is an overgrowth syndrome characterized by tall stature, arachnodactyly of the hands, macrodactyly of the great toes, scoliosis, coxa valga, and slipped capital femoral epiphysis (Miura et al., 2014). Multiple extra epiphyses are present in the hands (Boudin et al., 2018).
Mutation in the NPR3 gene (108962) results in Boudin-Mortier syndrome (BOMOS; 619543), a similar phenotype of tall stature, arachnodactyly, elongated great toes, and multiple extra epiphyses.|OMIM|N|
C4014700|The spectrum of BSCL2-related neurologic disorders includes Silver syndrome and variants of Charcot-Marie-Tooth neuropathy type 2, distal hereditary motor neuropathy (dHMN) type V, and spastic paraplegia 17. Features of these disorders include onset of symptoms ranging from the first to the seventh decade, slow disease progression, upper motor neuron involvement (gait disturbance with pyramidal signs ranging from mild to severe spasticity with hyperreflexia in the lower limbs and variable extensor plantar responses), lower motor neuron involvement (amyotrophy of the peroneal muscles and small muscles of the hand), and pes cavus and other foot deformities. Disease severity is variable among and within families.|GeneReviews|N|
C4014708|Webb-Dattani syndrome is an autosomal recessive disorder characterized by frontotemporal hypoplasia, globally delayed development, and pituitary and hypothalamic insufficiency due to hypoplastic development of these brain regions. Patients present soon after birth with multiple pituitary hormonal deficiencies and subsequently develop microcephaly, seizures, and spasticity. Other features include postretinal blindness and renal abnormalities (summary by Webb et al., 2013).|OMIM|N|
C4014722|STING-associated vasculopathy with onset in infancy is an autoinflammatory vasculopathy causing severe skin lesions, particularly affecting the face, ears, nose, and digits, and resulting in ulceration, eschar formation, necrosis, and, in some cases, amputation. Many patients have interstitial lung disease. Tissue biopsy and laboratory findings show a hyperinflammatory state, with evidence of increased beta-interferon (IFNB1; 147640) signaling (summary by Liu et al., 2014).|OMIM|N|
C4014731|An increased number of turns of the blood vessels of the nailfold with a charactereistic winded or twisted appearance of the blood vessels.|HPO|N|
C4014733|Lymphadenopathy (enlargement of lymph nodes) owing to hyperplasia of follicular (germinal) centers.|HPO|N|
C4014737|Any pancreatic agenesis in which the cause of the disease is a mutation in the PTF1A gene.|MONDO|N|
C4014738|MPPH (megalencephaly-postaxial polydactyly-polymicrogyria-hydrocephalus) syndrome is a developmental brain disorder characterized by megalencephaly (brain overgrowth) with the cortical malformation bilateral perisylvian polymicrogyria (BPP). At birth the occipital frontal circumference (OFC) ranges from normal to 6 standard deviations (SD) above the mean for age, sex, and gestational age; in older individuals the range is from 3 to 10 SD above the mean. A variable degree of ventriculomegaly is seen in almost all children with MPPH syndrome; nearly 50% of individuals have frank hydrocephalus. Neurologic problems associated with BPP include oromotor dysfunction (100%), epilepsy (50%), and mild-to-severe intellectual disability (100%). Postaxial hexadactyly occurs in 50% of individuals with MPPH syndrome.|GeneReviews|N|
C4014742|MPPH (megalencephaly-postaxial polydactyly-polymicrogyria-hydrocephalus) syndrome is a developmental brain disorder characterized by megalencephaly (brain overgrowth) with the cortical malformation bilateral perisylvian polymicrogyria (BPP). At birth the occipital frontal circumference (OFC) ranges from normal to 6 standard deviations (SD) above the mean for age, sex, and gestational age; in older individuals the range is from 3 to 10 SD above the mean. A variable degree of ventriculomegaly is seen in almost all children with MPPH syndrome; nearly 50% of individuals have frank hydrocephalus. Neurologic problems associated with BPP include oromotor dysfunction (100%), epilepsy (50%), and mild-to-severe intellectual disability (100%). Postaxial hexadactyly occurs in 50% of individuals with MPPH syndrome.|GeneReviews|N|
C4014745|Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the METTL23 gene.|MONDO|N|
C4014762|Myopia, or nearsightedness, is a refractive error of the eye. Light rays from a distant object are focused in front of the retina and those from a near object are focused in the retina; therefore distant objects are blurry and near objects are clear (summary by Kaiser et al., 2004).
For a discussion of genetic heterogeneity of myopia, see 160700.|OMIM|N|
C4014767|Hyperlipoproteinemia type ID is a rare autosomal recessive disorder characterized by impaired clearance of triglyceride (TG)-rich lipoproteins in plasma, leading to severe hypertriglyceridemia (chylomicronemia). Clinical features include eruptive xanthomas, lipemia retinalis, hepatosplenomegaly, episodes of abdominal pain, and pancreatitis. Onset usually occurs in adulthood (summary by Brahm and Hegele, 2013).
For a discussion of genetic heterogeneity of familial chylomicronemia, see 238600.|OMIM|N|
C4014795|Infantile-onset multisystem autoimmune disease-1 is characterized by early childhood onset of a spectrum of autoimmune disorders affecting multiple organs. Common manifestations include insulin-dependent diabetes mellitus and autoimmune enteropathy, or celiac disease, and autoimmune hematologic disorders. Other features include short stature and nonspecific dermatitis. More variable features include hypothyroidism, autoimmune arthritis, and delayed puberty. Some patients may show recurrent infections. The disorder results from an inborn error of cytokine signaling (summary by Flanagan et al., 2014 and Milner et al., 2015).
Genetic Heterogeneity of Infantile-Onset Multisystem Autoimmune Disease
See also ADMIO2 (617006), caused by mutation in the ZAP70 gene (176947) on chromosome 2q12, and ADMIO3 (620430), caused by mutation in the CBLB gene (604491) on chromosome 3q13.|OMIM|N|
C4014803|ACTH-independent macronodular adrenal hyperplasia-2 is an autosomal dominant tumor susceptibility with syndromic incomplete penetrance, as a second hit to the ARMC5 gene is required to develop macronodular hyperplasia (Assie et al., 2013).|OMIM|N|
C4014814|Centronuclear myopathy-5 (CNM5) is an autosomal recessive congenital myopathy characterized by severe neonatal hypotonia with respiratory insufficiency and difficulty feeding. Some patients die in infancy, and some develop dilated cardiomyopathy. Children show severely delayed motor development (summary by Agrawal et al., 2014).
For a discussion of genetic heterogeneity of centronuclear myopathy, see CNM1 (160150).|OMIM|N|
C4014821|Poretti-Boltshauser syndrome is an autosomal recessive disorder characterized by cerebellar dysplasia, cerebellar vermis hypoplasia, cerebellar cysts in most patients, high myopia, variable retinal dystrophy, and eye movement abnormalities. Affected individuals have delayed motor development and often have speech delay. Cognitive function can range from normal to intellectually disabled (summary by Aldinger et al., 2014).|OMIM|N|
C4014831|Any vesicoureteral reflux in which the cause of the disease is a mutation in the TNXB gene.|MONDO|N|
C4014833|Severe combined immunodeficiency (SCID) due to DNA-PKcs deficiency is an extremely rare type of SCID (see this term) characterized by the classical signs of SCID (severe and recurrent infections, diarrhea, failure to thrive), absence of T and B lymphocytes, and cell sensitivity to ionizing radiation.|ORDO|N|
C4014848|Nanophthalmos is characterized by axial lengths of the ocular globe that are more than 2 SDs smaller than the normal range, or less than 20 mm in adults, with a cornea and lens that are typically of normal size, associated with severe hyperopia (farsightedness) of +7.00 diopters or more. The smaller dimensions of the anterior chamber depth cause the iridocorneal angle to be typically narrow. Abnormal thickening of the scleral connective tissue is often observed (summary by Awadalla et al., 2014).
For a discussion of genetic heterogeneity of nanophthalmos, see NNO1 (600165).|OMIM|N|
C4014856|Cone-rod dystrophy is a group of related eye disorders that causes vision loss, which becomes more severe over time. These disorders affect the retina, which is the layer of light-sensitive tissue at the back of the eye. In people with cone-rod dystrophy, vision loss occurs as the light-sensing cells of the retina gradually deteriorate.\n\nThere are more than 30 types of cone-rod dystrophy, which are distinguished by their genetic cause and their pattern of inheritance: autosomal recessive, autosomal dominant, and X-linked. Additionally, cone-rod dystrophy can occur alone without any other signs and symptoms or it can occur as part of a syndrome that affects multiple parts of the body.\n\nThe first signs and symptoms of cone-rod dystrophy, which often occur in childhood, are usually decreased sharpness of vision (visual acuity) and increased sensitivity to light (photophobia). These features are typically followed by impaired color vision (dyschromatopsia), blind spots (scotomas) in the center of the visual field, and partial side (peripheral) vision loss. Over time, affected individuals develop night blindness and a worsening of their peripheral vision, which can limit independent mobility. Decreasing visual acuity makes reading increasingly difficult and most affected individuals are legally blind by mid-adulthood. As the condition progresses, individuals may develop involuntary eye movements (nystagmus).|MedlinePlus Genetics|N|
C4014863|Immunodeficiency-27B (IMD27B) results from autosomal dominant (AD) IFNGR1 deficiency. Patients with AD IFNGR1 deficiency commonly present with recurrent, moderately severe infections with environmental mycobacteria or bacillus Calmette-Guerin (BCG). In contrast with patients with complete autosomal recessive (AR) IFNGR1 deficiency (IMD27A), cells from patients with AD IFNGR1 deficiency display residual responses to IFNG in vitro, indicating that the deficiency in IFNGR1 is partial. The clinical features of AD IFNGR1 deficiency are usually less severe than those in children with complete AR IFNGR1 deficiency, and mycobacterial infection often occurs later (mean age of 13.4 years vs 1.3 years), with patients having longer mean disease-free survival. In patients with AD IFNGR1 deficiency, M. avium tends to cause unifocal or multifocal osteomyelitis. Salmonellosis is present in about 5% of patients with AR or AD IFNGR1 deficiency, and other infections have been reported in single patients (review by Al-Muhsen and Casanova, 2008).|OMIM|N|
C4014864|Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the FBXO31 gene.|MONDO|N|
C4014869|Familial partial lipodystrophy type 6 (FPLD6) is characterized by abnormal subcutaneous fat distribution, with variable excess accumulation of fat in the face, neck, shoulders, axillae, back, abdomen, and pubic region, and reduction in subcutaneous fat of the lower extremities. Progressive adult-onset myopathy is seen in some patients, and there is variable association with diabetes, hypertriglyceridemia, low high-density lipoprotein (HDL) cholesterol, and hepatic steatosis (Zolotov et al., 2017).
For a general phenotypic description and a discussion of genetic heterogeneity of familial partial lipodystrophy (FPLD), see 151660.|OMIM|N|
C4014918|Congenital aplastic deformities of the breast include amastia (total absence of breasts and nipple), athelia (absence of the nipple), and amazia (absence of the mammary gland). Most common is amastia. Bilateral absence of the breasts may occur as an isolated anomaly or may be associated with a syndrome or a cluster of other anomalies, including anhidrotic ectodermal dysplasia (305100) or Poland syndrome (173800) (summary by Papadimitriou et al., 2009).
For a discussion of genetic heterogeneity of aplasia or hypoplasia of the breasts and/or nipples, see 113700.|OMIM|N|
C4014925|Focal segmental glomerulosclerosis is a form of kidney injury defined by partial sclerosis of some, but not all, glomeruli. It is characterized clinically by significant proteinuria with or without features of nephrotic syndrome. Some patients develop end-stage renal disease (summary by Barua et al., 2014).
For a general phenotypic description and a discussion of genetic heterogeneity of focal segmental glomerulosclerosis and nephrotic syndrome, see FSGS1 (603278).|OMIM|N|
C4014934|Immunodeficiency-36 with lymphoproliferation (IMD36) is an autosomal dominant primary immunodeficiency with a highly heterogeneous clinical phenotype, characterized primarily by recurrent respiratory tract infections, lymphoproliferation, and antibody deficiency. Other features include growth retardation, mild neurodevelopmental delay, and autoimmunity. The major complication is development of B-cell lymphoma (Elkaim et al., 2016).|OMIM|N|
C4014939|Hennekam lymphangiectasia-lymphedema syndrome is an autosomal recessive disorder characterized by generalized lymphatic dysplasia affecting various organs, including the intestinal tract, pericardium, and limbs. Additional features of the disorder include facial dysmorphism and cognitive impairment (summary by Alders et al., 2014).
For a discussion of genetic heterogeneity of Hennekam lymphangiectasia-lymphedema syndrome, see HKLLS1 (235510).|OMIM|N|
C4014942|CAGSSS, which comprises cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia, is an autosomal recessive multisystemic disorder with a highly variable phenotypic spectrum. Not all of these features are always present, and almost all the features may present at different times and/or become more apparent with age. The skeletal features are consistent with spondyloepimetaphyseal dysplasia (SEMD) (summary by Vona et al., 2018).
One family had a distinctive presentation with infantile-onset intractable seizures and cortical abnormalities reminiscent of Leigh syndrome (see 256000). The correlation between genotype and phenotype remains unclear, but since the IARS2 gene is involved in mitochondrial function, heterogeneous manifestations can be expected (Takezawa et al., 2018).|OMIM|N|
C4014954|Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency is a rare, genetic, primary immunodeficiency disorder characterized by early-onset, recurrent, severe bacterial infections, granulopoiesis maturation arrest at the promyelocyte/myelocyte stage and markedly reduced absolute neutrophil counts, resulting from recessively inherited mutations in the <i>JAGN1</i> gene. Mild facial dysmorphism (i.e. triangular face), short stature, failure to thrive, hypothyroidism, developmental delay, pancreatic insufficiency and coarctation of aorta, as well as bone and urogenital abnormalities, may also be associated.|ORDO|N|
C4014958|GPIBD11 is an autosomal recessive disorder characterized by neonatal hypotonia, lack of psychomotor development, and variable seizures. Some patients may have dysmorphic features or increased serum alkaline phosphatase. The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis (summary by Hogrebe et al., 2016).
For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (610293).|OMIM|N|
C4014962|Any Fanconi syndrome in which the cause of the disease is a mutation in the HNF4A gene.|MONDO|N|
C4014970|Adams-Oliver syndrome (AOS) is characterized by aplasia cutis congenita (ACC) of the scalp and terminal transverse limb defects (TTLD). ACC lesions usually occur in the midline of the parietal or occipital regions, but can also occur on the abdomen or limbs. At birth, an ACC lesion may already have the appearance of a healed scar. ACC lesions less than 5 cm often involve only the skin and almost always heal over a period of months; larger lesions are more likely to involve the skull and possibly the dura, and are at greater risk for complications, which can include infection, hemorrhage, or thrombosis, and can result in death. The limb defects range from mild (unilateral or bilateral short distal phalanges) to severe (complete absence of all toes or fingers, feet or hands, or more, often resembling an amputation). The lower extremities are almost always more severely affected than the upper extremities. Additional major features frequently include cardiovascular malformations/dysfunction (23%), brain anomalies, and less frequently renal, liver, and eye anomalies.|GeneReviews|N|
C4014987|A rare genetic ectodermal dysplasia syndrome characterized by short stature, nail dystrophy and/or nail loss, oral mucosa and/or tongue hyperpigmentation, dentition abnormalities (delayed teeth eruption, hypodontia, enamel hypoplasia), keratoderma on the margins of the palms and soles and focal hyperkeratosis on the dorsum of the hands and feet. Additionally, dysphagia with esophageal strictures, sensorineural deafness, bronchial asthma and severe iron-deficiency anemia have also been observed.|SNOMEDCT_US|N|
C4014988|Isolated gonadotropin-releasing hormone (GnRH) deficiency (IGD) is characterized by inappropriately low serum concentrations of the gonadotropins LH (luteinizing hormone) and FSH (follicle-stimulating hormone) in the presence of low circulating concentrations of sex steroids. IGD is associated with a normal sense of smell (normosmic IGD) in approximately 40% of affected individuals and an impaired sense of smell (Kallmann syndrome) in approximately 60%. IGD can first become apparent in infancy, adolescence, or adulthood. Infant boys with congenital IGD often have micropenis and cryptorchidism. Adolescents and adults with IGD have clinical evidence of hypogonadism and incomplete sexual maturation on physical examination. Adult males with IGD tend to have prepubertal testicular volume (i.e., <4 mL), absence of secondary sexual features (e.g., facial and axillary hair growth, deepening of the voice), decreased muscle mass, diminished libido, erectile dysfunction, and infertility. Adult females have little or no breast development and primary amenorrhea. Although skeletal maturation is delayed, the rate of linear growth is usually normal except for the absence of a distinct pubertal growth spurt.|GeneReviews|N|
C4014993|Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the ANLN gene.|MONDO|N|
C4014997|Microcephaly, short stature, and impaired glucose metabolism-1 (MSSGM1) is an autosomal recessive syndrome characterized by microcephaly associated with impaired intellectual development, short stature, and early-onset diabetes or abnormalities of glucose homeostasis (Igoillo-Esteve et al., 2013; Gillis et al., 2014).
Genetic Heterogeneity of Microcephaly, Short Stature, and Impaired Glucose Metabolism
MSSGM2 (616817) is caused by mutation in the PPP1R15B gene (613257) on chromosome 1q32.
Also see Wolcott-Rallison syndrome (226980), which is characterized by multiple epiphyseal dysplasia, microcephaly, short stature, and early-onset diabetes mellitus and is caused by mutation in the EIF2AK3 gene (604032) on chromosome 2p11.|OMIM|N|
C4015009|A decreased concentration of free (unbound) carnitine in the blood.|HPO|N|
C4015016|Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC151 gene.|MONDO|N|
C4015019|Neu-Laxova syndrome-2 (NLS2) is a rare autosomal recessive disorder characterized by a recognizable pattern of severe congenital malformations leading to prenatal or early postnatal lethality. Affected individuals have abnormal craniofacial features, microcephaly, intrauterine growth retardation, ichthyosis, flexion deformities, limb malformations, and edema of the hands and feet. Some patients have malformations of the central nervous system, such as abnormal gyration (summary by Acuna-Hidalgo et al., 2014).
For a discussion of genetic heterogeneity of Neu-Laxova syndrome, see NLS1 (256520).|OMIM|N|
C4015038|Presynaptic congenital myasthenic syndrome-7A with distal motor neuropathy (CMS7A) is an autosomal dominant neuromuscular disorder characterized by onset of foot deformities, delayed motor development, and slowly progressive distal muscle weakness resulting in gait difficulties in early childhood. Other features may include hyporeflexia, muscle atrophy, and upper limb involvement. Electrophysiologic studies show low compound muscle action potentials (CMAPs), consistent with a distal hereditary motor neuropathy (dHMN), as well as a decremental response to repetitive stimulation, indicating presynaptic defects at the neuromuscular junction (NMJ), consistent with myasthenic syndrome (summary by Fionda et al., 2021). The complex phenotype of patients with dominant SYT2 mutations likely results from impairment of 2 fundamental functions of SYT2: (1) disturbance of calcium-dependent synchronous presynaptic neurotransmitter release, resulting in a myasthenic disorder, and (2) disruption of exocytosis and endocytosis, causing a degenerative process affecting peripheral motor nerve terminals and resulting in a motor neuropathy (Maselli et al., 2021).
For a discussion of genetic heterogeneity of CMS, see CMS1A (601462).
For a discussion of genetic heterogeneity of dHMN, see 182960.|OMIM|N|
C4015050|Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the CLIC5 gene.|MONDO|N|
C4015052|Vestibular areflexia can be measured as the absence of the caloric nystagmus response in electronystagmography.|HPO|N|
C4015067|Autoinflammation with infantile enterocolitis is an autosomal dominant disorder characterized by onset of recurrent flares of autoinflammation in early infancy. Affected individuals tend to have poor overall growth and gastrointestinal symptoms in infancy associated with laboratory evidence of activated inflammation. This initial presentation is followed by recurrent febrile episodes with splenomegaly and sometimes hematologic disturbances, arthralgias, or myalgias. The disorder results from overactivation of an arm of the immune response system (Romberg et al., 2014; Canna et al., 2014).|OMIM|N|
C4015070|Dysregulation of the innate immune system characterized by systemic pathobiology, i.e., with symptoms that can affect the entire body.|HPO|N|
C4015080|Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CENPE gene.|MONDO|N|
C4015098|A reduction in the degree of glycosylation of alpha-dystroglycan in muscle tissue.|HPO|N|
C4015108|A rare hereditary ataxia characterized by recurrent episodes of ataxia with variable frequency and duration, associated with slurred speech, generalized muscle weakness and balance disturbance. Other symptoms may occur between episodes, including intention tremor, gait ataxia, mild dysarthria, myokymia, migraine and nystagmus.|SNOMEDCT_US|N|
C4015119|Developmental and epileptic encephalopathy-26 (DEE26) is a neurologic disorder characterized by onset of variable types of seizures late in infancy or in the first years of life. Affected children show developmental delay with intellectual disability, poor speech, and behavioral abnormalities. EEG shows multifocal epileptic discharges, and may show hypsarrhythmia (summary by Torkamani et al., 2014).
For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350.|OMIM|N|
C4015124|Any familial congenital mirror movements in which the cause of the disease is a mutation in the DNAL4 gene.|MONDO|N|
C4015128|Porokeratosis is a rare skin disorder characterized by one or more annular plaques with a surrounding raised horny border that spreads centrifugally. Variants of porokeratosis have been described that differ in morphologic shape, distribution, and clinical course (Schamroth et al., 1997). However, as noted by Sybert (2010), the existence of several families with expression of more than one variant of porokeratosis among members, and individuals expressing more than one variant, suggest that the distinctions among these variants may be artificial.
Disseminated superficial actinic porokeratosis (DSAP) is the most common subtype of porokeratosis. It is characterized by multiple small, annular, anhidrotic, keratotic lesions that are located predominantly on sun-exposed areas of the skin, such as the face, neck, and distal limbs. The lesions typically begin to develop in adolescence and reach near-complete penetrance by the third or fourth decade of life (summary by Wu et al., 2004 and Zhang et al., 2012).
For a discussion of genetic heterogeneity of porokeratosis, see 175800.|OMIM|N|
C4015130|Any neonatal inflammatory skin and bowel disease in which the cause of the disease is a mutation in the EGFR gene.|MONDO|N|
C4015136|An increased susceptibility to bronchiolitis as manifested by a history of recurrent bronchiolitis.|HPO|N|
C4015141|SETBP1 haploinsufficiency disorder (SETBP1-HD) is characterized by hypotonia and mild motor developmental delay; intellectual abilities ranging from normal to severe disability; speech and language disorder; behavioral problems (most commonly attention/concentration deficits and hyperactivity, impulsivity), and refractive errors and strabismus. Typically children with SETBP1-HD whose intellect is in the normal or borderline range (IQ 80-90) were diagnosed following genetic testing for behavioral problems and/or severe speech and language disorders (respectively: the inability to produce sounds in words correctly, and deficits in the understanding and/or expression of words and sentences). To date, 47 individuals with SETBP1-HD have been reported.|GeneReviews|N|
C4015146|Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies is a rare, genetic, retinal dystrophy disorder characterized by decreased central retinal sensitivity associated with hyper-reflectivity of ganglion cells and nerve fiber layer with loss of optic nerve fibers manifesting with photophobia, optic disc pallor and progressive loss of central vision with preservation of peripheral visual field.|ORDO|N|
C4015156|Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CDK6 gene.|MONDO|N|
C4015160|Pontocerebellar hypoplasia type 1C is a severe autosomal recessive neurodegenerative disorder characterized by severe muscle weakness and failure to thrive apparent in the first months of life. Affected infants showed delayed psychomotor development, often with visual and hearing impairment, and may die of respiratory failure. Brain imaging typically shows cerebellar hypoplasia, hypoplasia of the corpus callosum, and immature myelination (summary by Boczonadi et al., 2014).
For a phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1A (607596).|OMIM|N|
C4015167|Autosomal dominant intellectual developmental disorder-30 with speech delay and behavioral abnormalities (MRD30) is characterized by developmental delay apparent from early infancy. Cognitive impairment is variable; many patients are able to attend special schools. Behavioral abnormalities, including ADHD, autistic features, and aggression are commonly observed. Additional features may include various types of seizures, hypotonia, mild skeletal defects, feeding difficulties, and dysmorphic features (Yates et al., 2020; Oates et al., 2021).|OMIM|N|
C4015172|Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD) is an autosomal recessive syndromic disorder characterized by onset of severe sideroblastic anemia in the neonatal period or infancy. Affected individuals show delayed psychomotor development with variable neurodegeneration. Recurrent periodic fevers without an infectious etiology occur throughout infancy and childhood; immunologic work-up shows B-cell lymphopenia and hypogammaglobulinemia. Other more variable features include sensorineural hearing loss, retinitis pigmentosa, nephrocalcinosis, and cardiomyopathy. Death in the first decade may occur (summary by Wiseman et al., 2013).|OMIM|N|
C4015183|Any type 2 diabetes mellitus in which the cause of the disease is a mutation in the TBC1D4 gene.|MONDO|N|
C4015184|A form of limb-girdle muscular dystrophy presenting in infancy with muscle weakness and delayed motor development (eventually learning to walk at 18 months of age) followed by progressive proximal weakness, pseudohypertrophy of calf muscles, mild facial weakness and borderline intelligence.|SNOMEDCT_US|N|
C4015186|A rare disorder of ketone body transport characterized by recurrent episodes of ketoacidosis provoked by fasting or infections in the first years of life. The episodes are typically preceded by poor feeding and vomiting and are associated with dehydration, in severe cases also with decreased consciousness and insufficient respiratory drive. Hypoglycemia is observed only infrequently. Patients with homozygous mutations tend to present at a younger age, have more profound ketoacidosis, and may show mild to moderate developmental delay in addition.|SNOMEDCT_US|N|
C4015195|Any primary immunodeficiency disease in which the cause of the disease is a mutation in the BCL10 gene.|MONDO|N|
C4015202|Palmoplantar keratoderma and woolly hair (PPKWH) is an autosomal recessive disorder characterized by the presence of these cardinal features and the absence of cardiomyopathy symptoms or findings on echocardiography and electrocardiogram. Palmoplantar keratoderma is of the striate type; hair is generally sparse; and leukonychia is present (Ramot et al., 2014).|OMIM|N|
C4015203|The presence of wooly hair on the scalp. The term wooly hair refers to an abnormal variant of hair that is fine, with tightly coiled curls, and often hypopigmented. Optical microscopy may reveal the presence of tight spirals and a clear diameter reduction as compared with normal hair. Electron microscopy may show flat, oval hair shafts with reduced transversal diameter.|HPO|N|
C4015214|Immune dysregulation with autoimmunity, immunodeficiency, and lymphoproliferation (IDAIL) is an autosomal dominant complex immune disorder with highly variable presentation and clinical manifestations. Prominent features include recurrent infections often associated with hypogammaglobulinemia, autoimmune features such as autoimmune cytopenias, and abnormal lymphocytic infiltration of nonlymphoid organs, including the lungs, brain, and gastrointestinal tract, resulting in enteropathy. Laboratory studies often show lymphopenia and abnormal T and B cell subsets. The variable features are a result of impaired function of Treg cells, which play a role in immune homeostasis (summary by Kuehn et al., 2014; Schwab et al., 2018, and Lopez-Nevado et al., 2021).
The disorder shows overlapping features with autoimmune lymphoproliferative syndrome (ALPS); for a general description and a discussion of genetic heterogeneity of ALPS, see 601859.|OMIM|N|
C4015235|While many affected individuals have features only of GPP (called GPP alone), some develop features of another skin condition called psoriasis vulgaris (PV), either before or after GPP appears. PV, the most common form of psoriasis, is characterized by red, scaly patches of skin (plaques) on parts of the body.\n\nGeneralized pustular psoriasis (GPP) is a severe form of a skin disorder called psoriasis. GPP and other forms of psoriasis are caused by abnormal inflammation. Inflammation is a normal immune system response to injury and foreign invaders (such as bacteria). However, when inflammation is abnormal and uncontrolled, it can damage the body's tissues and organs. Individuals with GPP have repeated episodes in which large areas of skin become red and inflamed and develop small pus-filled blisters (pustules). The skin problems can be accompanied by fever, extreme tiredness (fatigue), muscle weakness, an increased number of white blood cells, and other signs of inflammation throughout the body (systemic inflammation). The inflammation problems subside and reappear often. Episodes can be triggered by infection, exposure to or withdrawal from certain medications, menstruation, or pregnancy, although the trigger is often unknown. GPP can be life-threatening if not treated.|MedlinePlus Genetics|N|
C4015242|A rare genetic syndromic rod-cone dystrophy disorder with characteristics of psychomotor developmental delay from early childhood, intellectual disability, short stature, mild facial dysmorphism (e.g. upslanted palpebral fissures, hypoplastic alae nasi, malar hypoplasia, attached earlobes), excessive dental spacing and malocclusion, juvenile cataract and ophthalmologic findings of atypical retinitis pigmentosa (i.e. salt-and-pepper retinopathy, attenuated retinal arterioles, generalised rod-cone dysfunction, mottled macula, peripapillary sparing of retinal pigment epithelium).|SNOMEDCT_US|N|
C4015253|Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the UQCC3 gene.|MONDO|N|
C4015261|A rare genetic disease with characteristics of childhood onset of multiple endocrine manifestations in combination with central and peripheral nervous system abnormalities. Reported signs and symptoms include postnatal growth retardation, moderate intellectual disability, hypogonadotropic hypogonadism, insulin-dependent diabetes mellitus, central hypothyroidism, demyelinating sensorimotor polyneuropathy, cerebellar and pyramidal signs. Progressive hearing loss and a hypoplastic pituitary gland have also been described. Brain imaging shows moderate white matter abnormalities.|SNOMEDCT_US|N|
C4015276|A rare hereditary periodic fever syndrome with characteristics of infantile or childhood onset of episodes of fever and cold-induced urticaria-like rash and arthralgia. Ocular features such as conjunctivitis and uveitis may also be present. Presentation is typically mild and symptoms resolve without treatment in most cases.|SNOMEDCT_US|N|
C4015283|Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the NDST1 gene.|MONDO|N|
C4015285|A rare genetic cardiac disease characterized by variably expressed atrial tachyarrhythmia (such as atrial flutter, paroxysmal or chronic atrial fibrillation, ectopic atrial tachycardia, or multifocal atrial tachycardia), infra-Hisian conduction system disease, and vulnerability to dilated cardiomyopathy. Age of onset ranges between childhood and adulthood.|ORDO|N|
C4015293|IMD38 predisposes individuals to severe clinical disease upon infection with weakly virulent mycobacteria, including Mycobacterium bovis Bacille Calmette-Guerin (BCG) vaccines (Bogunovic et al., 2012). Patients do not experience severe disease in response to viral infection. Affected individuals have intracranial calcification (Zhang et al., 2015).|OMIM|N|
C4015301|Autosomal recessive spinocerebellar ataxia-17 (SCAR17) is a neurologic disorder characterized by onset of gait ataxia and cerebellar signs in early childhood. Patients also have variably impaired intellectual development (summary by Evers et al., 2016).|OMIM|N|
C4015307|Perrault syndrome is characterized by sensorineural hearing loss (SNHL) in males and females and ovarian dysfunction in females. SNHL is bilateral and ranges from profound with prelingual (congenital) onset to moderate with early-childhood onset. When onset is in early childhood, hearing loss can be progressive. Ovarian dysfunction ranges from gonadal dysgenesis (absent or streak gonads) manifesting as primary amenorrhea to primary ovarian insufficiency (POI) defined as cessation of menses before age 40 years. Fertility in affected males is reported as normal (although the number of reported males is limited). Neurologic features described in some individuals with Perrault syndrome include learning difficulties and developmental delay, cerebellar ataxia, and motor and sensory peripheral neuropathy.|GeneReviews|N|
C4015316|GRIN2B-related neurodevelopmental disorder is characterized by mild to profound developmental delay / intellectual disability (DD/ID) in all affected individuals. Muscle tone abnormalities (spasticity and/or hypotonia, occasionally associated with feeding difficulties), as well as epilepsy and autism spectrum disorder (ASD) / behavioral issues, are common. Other infantile- or childhood-onset findings include microcephaly; dystonic, dyskinetic, or choreiform movement disorder; and/or cortical visual impairment. Brain MRI reveals a malformation of cortical development in a minority of affected individuals. To date, fewer than 100 individuals with GRIN2B-related neurodevelopmental disorder have been reported.|GeneReviews|N|
C4015323|Hypomyelinating leukodystrophy-9 is an autosomal recessive neurologic disorder characterized by onset of delayed psychomotor development, spasticity, and nystagmus in the first year of life. Additional neurologic features such as ataxia and abnormal movements may also occur. Brain imaging shows diffuse hypomyelination affecting all regions of the brain (summary by Wolf et al., 2014).
For a general phenotypic description and a discussion of genetic heterogeneity of HLD, see 312080.|OMIM|N|
C4015342|Macular dystrophies are inherited retinal dystrophies in which various forms of deposits, pigmentary changes, and atrophic lesions are observed in the macula lutea, the cone-rich region of the central retina. Vitelliform macular dystrophies (VMDs) form a subset of macular dystrophies characterized by round yellow deposits, usually at the center of the macula and containing lipofuscin, a chemically heterogeneous pigment visualized by autofluorescence imaging of the fundus (summary by Manes et al., 2013). Vitelliform macular dystrophy-4 is characterized by late-onset moderate visual impairment, small satellite drusen-like lesions in the foveal area, preservation of retinal pigment epithelium (RPE) reflectivity, deposits above the RPE between the ellipsoid and outer segment interdigitation lines on spectral-domain optical coherence tomography (SD-OCT), and normal or borderline results on electrooculography (EOG) (Meunier et al., 2014). In most families with VMD4 caused by compound heterozygous or homozygous mutations in IMPG1, asymptomatic heterozygous carriers have been found to have fundus changes (Manes et al., 2013; Brandl et al., 2017).
Brandl et al. (2017) examined patients VMD4, caused by mutation in the IMPG1 gene, and VMD5 (616152), caused by mutation in the IMPG2 gene, and observed strikingly similar phenotypic characteristics. They noted that retinal lesions progressed in consecutive stages, with the initial development of a single vitelliform lesion in the central macula, with detachment of the neurosensory retina and hyperreflective material located above a preserved Bruch membrane/RPE on SD-OCT. Next, resorption of the hyperreflective material occurs, leaving behind a dome-shaped, optically empty cavity; alternatively, the foveal cavity formed by retinal detachment may become successively filled with material. Finally, there is collapse of the cavity with central retinal atrophy and loss of RPE, resulting in the most pronounced loss of visual acuity. The authors also noted that symptoms tended to be more severe in those with IMPG1 mutations.
For a discussion of genetic heterogeneity of vitelliform macular dystrophy, see VMD1 (153840).|OMIM|N|
C4015343|Macular dystrophies are inherited retinal dystrophies in which various forms of deposits, pigmentary changes, and atrophic lesions are observed in the macula lutea, the cone-rich region of the central retina. Vitelliform macular dystrophies (VMDs) form a subset of macular dystrophies characterized by round yellow deposits, usually at the center of the macula and containing lipofuscin, a chemically heterogeneous pigment visualized by autofluorescence imaging of the fundus (summary by Manes et al., 2013). Vitelliform macular dystrophy-5 (VMD5) is characterized by late-onset moderate visual impairment, preservation of retinal pigment epithelium (RPE) reflectivity, deposits above the RPE between the ellipsoid and outer segment interdigitation lines on spectral-domain optical coherence tomography (SD-OCT), and normal or borderline results on electrooculopathy (EOG) (Meunier et al., 2014).
Brandl et al. (2017) examined patients with IMPG2- and IMPG1 (602870)-associated VMD (see VMD4; 616151) and observed strikingly similar phenotypic characteristics. They noted that retinal lesions progressed in consecutive stages, with the initial development of a single vitelliform lesion in the central macula, with detachment of the neurosensory retina and hyperreflective material located above the seemingly preserved Bruch membrane/RPE seen on SD-OCT. Next, resorption of the hyperreflective material occurs, leaving behind a dome-shaped, optically empty cavity; alternatively, the foveal cavity formed by retinal detachment may become successively filled with material. Finally, there is collapse of the cavity with central retinal atrophy and loss of RPE, resulting in the most pronounced loss of visual acuity. The authors also noted that symptoms tended to be more severe in those with IMPG1 mutations.
For a discussion of genetic heterogeneity of vitelliform macular dystrophy, see VMD1 (153840).|OMIM|N|
C4015344|Peroxisomal fatty acyl-CoA reductase-1 disorder (PFCRD) is an autosomal recessive disorder characterized by onset in infancy of severely delayed psychomotor development, growth retardation with microcephaly, and seizures. Some patients may have congenital cataracts and develop spasticity later in childhood. Biochemical studies tend to show decreased plasmalogen, consistent with a peroxisomal defect. The disorder is reminiscent of rhizomelic chondrodysplasia punctata (see, e.g., RCDP1, 215100), although the characteristic skeletal abnormalities observed in RCDP are absent (Buchert et al., 2014).|OMIM|N|
C4015349|Charcot-Marie-Tooth disease type 2S is a relatively pure form of autosomal recessive axonal neuropathy characterized by onset in the first decade of slowly progressive distal muscle weakness and atrophy affecting the lower and upper limbs. Patients have decreased reflexes and variable distal sensory impairment (summary by Cottenie et al., 2014).
For a phenotypic description and a discussion of genetic heterogeneity of axonal CMT, see CMT2A1 (118210).|OMIM|N|
C4015357|PURA-related neurodevelopmental disorders include PURA syndrome, caused by a heterozygous pathogenic sequence variant in PURA, and 5q31.3 deletion syndrome, caused by a genomic 5q31.3 deletion encompassing all or part of PURA.
PURA-related neurodevelopmental disorders are characterized by moderate-to-severe neurodevelopmental delay with absence of speech in most and lack of independent ambulation in many. Early-onset problems can include hypotonia, hypothermia, hypersomnolence, feeding difficulties, excessive hiccups, recurrent central and obstructive apneas, epileptic seizures, abnormal nonepileptic movements (dystonia, dyskinesia, and dysconjugate eye movements), and abnormal vision. Congenital heart defects, urogenital malformations, skeletal abnormalities, and endocrine disorders occur, but are less common.|GeneReviews|N|
C4015360|Nemaline myopathy-10 (NEM10) is an autosomal recessive severe congenital myopathy characterized by early-onset generalized muscle weakness and hypotonia with respiratory insufficiency and feeding difficulties. Many patients present antenatally with decreased fetal movements, and most die of respiratory failure in early infancy (summary by Yuen et al., 2014). Patients with a stable and much milder disease course have been described (Schatz et al., 2018).
For a discussion of genetic heterogeneity of nemaline myopathy, see NEM3 (161800).|OMIM|N|
C4015368|Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the MFAP5 gene.|MONDO|N|
C4015388|Microcephaly and chorioretinopathy-2 is an autosomal recessive developmental disorder characterized by delayed psychomotor development, visual impairment, and short stature (summary by Martin et al., 2014).
For a discussion of genetic heterogeneity of microcephaly and chorioretinopathy, see MCCRP1 (251270).|OMIM|N|
C4015395|Generalized epilepsy with febrile seizures plus-9 is an autosomal dominant neurologic disorder characterized by onset of febrile and/or afebrile seizures in early childhood, usually before age 3 years. Seizure types are variable and include generalized tonic-clonic, atonic, myoclonic, complex partial, and absence. Most patients have remission of seizures later in childhood with no residual neurologic deficits, but rare patients may show mild developmental delay or mild intellectual disabilities (summary by Schubert et al., 2014).
For a general phenotypic description and a discussion of genetic heterogeneity of GEFS+, see 604233.|OMIM|N|
C4015405|A rare isolated hereditary giant platelet disorder characterized by severe thrombocytopenia and thrombopathy due to defects in proplatelet formation and platelet activation in homozygous patients. Clinical manifestation are recurrent bleeding episodes including epistaxis, spontaneous hematomas, and menorrhagia.|ORDO|N|
C4015409|A rare genetic disorder of sex development characterized by primary amenorrhea, short stature, delayed bone age, decreased levels of estradiol, elevated levels of follicle-stimulating hormone and luteinizing hormone, absent or underdeveloped uterus and ovaries, delayed development of pubic and axillary hair and normal 46,XX karyotype.|SNOMEDCT_US|N|
C4015420|Progressive myoclonic epilepsy-7 (EPM7) is a neurologic disorder characterized by onset of severe progressive myoclonus and infrequent tonic-clonic seizures in the first or second decades of life. Most patients become wheelchair-bound; some patients may have cognitive decline (summary by Muona et al., 2015).
For a discussion of genetic heterogeneity of progressive myoclonic epilepsy, see EPM1A (254800).|OMIM|N|
C4015436|Combined cerebellar and peripheral ataxia with hearing loss and diabetes mellitus (ACPHD) is an autosomal recessive multisystem disorder including defects in glucose metabolism, diffuse neurodegeneration, multiple hormone deficiencies, severe growth retardation with possible growth hormone deficiencies, and subtle osseous changes suggesting early-onset bone dysplasia (summary by Ozon et al., 2020).|OMIM|N|
C4015444|Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the FMN2 gene.|MONDO|N|
C4015452|Polyglucosan body myopathy-2 is an autosomal recessive disorder characterized by proximal muscle weakness of the lower limbs resulting in gait disturbances. Some patients also have involvement of the upper limbs and/or distal muscle weakness. The age at onset is highly variable, and the disorder is slowly progressive. Muscle biopsy shows accumulation of polyglucosan, which contains abnormally long and poorly branched glucosyl chains and is variably resistant to digestion by alpha-amylase (summary by Malfatti et al., 2014).
For a discussion of genetic heterogeneity of PGBM, see PGBM1 (615895).|OMIM|N|
C4015461|Ruijs et al. (2003) reported a Moroccan boy with a chromosomal breakage who died of hepatocellular carcinoma at age 17 years. The boy was noted to have growth retardation at age 3 years; at age 7 he was found to have thoracic kyphosis, frontal bossing, and a delayed bone age of approximately 3 years. He underwent surgery for severe bilateral posterior subcapsular cataracts at age 14. Examination at age 15 showed short stature and low weight, with premature graying of scalp hair, small frontotemporal diameter, small deep-set eyes, bulbous nose with high nasal bridge, small upper lip, and micrognathia. In addition, he had thoracic kyphoscoliosis, sloping shoulders, mild pectus excavatum, moderate bilateral contractures of both elbows, bilateral clinodactyly, and pes planus. At age 17, he developed abdominal pain, and ultrasonography revealed a liver mass; biopsy confirmed hepatocellular carcinoma. Because of the advanced stage, no treatment was possible, and he died 2 months later. Although his parents were not known to be consanguineous, they originated from the same small Moroccan village.
Lessel et al. (2014) studied 2 brothers from a nonconsanguineous Australian family of European ancestry who exhibited low body weight, micrognathia, triangular face, muscular atrophy, lipodystrophy, bilateral simian creases, delayed bone age, and mild joint restrictions in the fingers and elbows. In addition, both brothers developed early-onset hepatocellular carcinoma, at ages 16 and 14 years, respectively. The older brother died at age 18 from complications of acute fulminant hepatic failure. Analysis of patient tumor biopsies showed strong focal accumulations of cancer biomarkers as well as a high proliferative index compared to healthy liver or to cells from idiopathic hepatocellular carcinoma.|OMIM|N|
C4015474|Syndrome with characteristics of sick sinus syndrome and intestinal pseudo-obstruction. The heart and digestive issues develop at the same time, usually by age 20. The syndrome is caused by mutations in the SGO1 gene. This gene provides instructions for making part of a protein complex cohesin. This protein complex helps control the placement of chromosomes during cell division. Research suggests that SGO1 gene mutations may result in a cohesin complex that is less able to hold sister chromatids together, resulting in decreased chromosomal stability during cell division. This instability is thought to cause senescence of cells in the intestinal muscle and in the sinoatrial node, resulting in problems maintaining proper rhythmic movements of the heart and intestines.|SNOMEDCT_US|N|
C4015495|Cerebellofaciodental syndrome is an autosomal recessive neurodevelopmental disorder characterized by delayed development, intellectual disability, abnormal facial and dental findings, and cerebellar hypoplasia (summary by Borck et al., 2015).|OMIM|N|
C4015505|Autosomal recessive spinocerebellar ataxia-18 is a neurologic disorder characterized by delayed psychomotor development, severely impaired gait due to cerebellar ataxia, ocular movement abnormalities, and intellectual disability. Brain imaging shows progressive cerebellar atrophy (summary by Hills et al., 2013).|OMIM|N|
C4015512|Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the TUBA4A gene.|MONDO|N|
C4015513|CHCHD10-related disorders are characterized by a spectrum of adult-onset neurologic phenotypes that can include: Mitochondrial myopathy (may also be early onset): weakness, amyotrophy, exercise intolerance. Amyotrophic lateral sclerosis (ALS): progressive degeneration of upper motor neurons and lower motor neurons. Frontotemporal dementia (FTD): slowly progressive behavioral changes, language disturbances, cognitive decline, extrapyramidal signs. Late-onset spinal motor neuronopathy (SMA, Jokela type): weakness, cramps, and/or fasciculations; areflexia. Axonal Charcot-Marie-Tooth neuropathy: slowly progressive lower-leg muscle weakness and atrophy, small hand muscle weakness, loss of tendon reflexes, sensory abnormalities. Cerebellar ataxia: gait ataxia, kinetic ataxia (progressive loss of coordination of lower- and upper-limb movements), dysarthria/dysphagia, nystagmus, cerebellar oculomotor disorder. Because of the recent discovery of CHCHD10-related disorders and the limited number of affected individuals reported to date, the natural history of these disorders (except for SMAJ caused by the p.Gly66Val pathogenic variant) is largely unknown.|GeneReviews|N|
C4015519|Developmental and epileptic encephalopathy-28 (DEE28) is an autosomal recessive severe neurologic disorder characterized by the onset of refractory seizures in the first months of life. Affected individuals have severe axial hypotonia and profoundly impaired psychomotor development. More severely affected patients have acquired microcephaly, poor or absent visual contact, and retinal degeneration; early death may occur (summary by Mignot et al., 2015).
For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350.|OMIM|N|
C4015525|Lissencephaly-6 (LIS6) is an autosomal recessive neurodevelopmental disorder characterized by severe microcephaly and developmental delay. Brain imaging shows variable malformations of cortical development, including lissencephaly, pachygyria, and hypoplasia of the corpus callosum (summary by Mishra-Gorur et al., 2014).
For a general description and a discussion of genetic heterogeneity of lissencephaly, see LIS1 (607432).|OMIM|N|
C4015537|Individuals with ETV6 thrombocytopenia and predisposition to leukemia most often present with a lifelong history of thrombocytopenia, which is usually in the mild to moderate range. No syndromic features or associations are consistently shared across pedigrees. Affected individuals also have a moderate risk of developing a hematologic malignancy (with B-cell acute lymphoblastic leukemia [B-ALL] being the most common) and possibly other malignant solid tumors, particularly colorectal cancer.|GeneReviews|N|
C4015542|The nephronophthisis (NPH) phenotype is characterized by reduced renal concentrating ability, chronic tubulointerstitial nephritis, cystic renal disease, and progression to end-stage renal disease (ESRD) before age 30 years. Three age-based clinical subtypes are recognized: infantile, juvenile, and adolescent/adult. Infantile NPH can present in utero with oligohydramnios sequence (limb contractures, pulmonary hypoplasia, and facial dysmorphisms) or postnatally with renal manifestations that progress to ESRD before age 3 years. Juvenile NPH, the most prevalent subtype, typically presents with polydipsia and polyuria, growth retardation, chronic iron-resistant anemia, or other findings related to chronic kidney disease (CKD). Hypertension is typically absent due to salt wasting. ESRD develops at a median age of 13 years. Ultrasound findings are increased echogenicity, reduced corticomedullary differentiation, and renal cysts (in 50% of affected individuals). Histologic findings include tubulointerstitial fibrosis, thickened and disrupted tubular basement membrane, sporadic corticomedullary cysts, and normal or reduced kidney size. Adolescent/adult NPH is clinically similar to juvenile NPH, but ESRD develops at a median age of 19 years. Within a subtype, inter- and intrafamilial variability in rate of progression to ESRD is considerable. Approximately 80%-90% of individuals with the NPH phenotype have no extrarenal features (i.e., they have isolated NPH); ~10%-20% have extrarenal manifestations that constitute a recognizable syndrome (e.g., Joubert syndrome, Bardet-Biedl syndrome, Jeune syndrome and related skeletal disorders, Meckel-Gruber syndrome, Senior-Løken syndrome, Leber congenital amaurosis, COACH syndrome, and oculomotor apraxia, Cogan type).|GeneReviews|N|
C4015552|Any congenital fibrosis of extraocular muscles in which the cause of the disease is a mutation in the COL25A1 gene.|MONDO|N|
C4015555|Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the CRB2 gene.|MONDO|N|
C4015557|Amelogenesis imperfecta type IH is characterized by hypoplastic and hypomineralized tooth enamel that may be rough, pitted, and/or discolored (Wang et al., 2014 and Poulter et al., 2014).|OMIM|N|
C4015558|Temple syndrome is a short stature disorder of imprinting. The cardinal features are low birth weight, hypotonia and motor delay, feeding problems early in life, early puberty, and significantly reduced final height. Facial features include a broad forehead and short nose with a wide nasal tip, and the majority of patients have small hands and feet. However, many of the clinical features are nonspecific, making diagnosis difficult. In addition, isodisomy may uncover recessive disorders, which may influence the phenotype in maternal uniparental disomy of chromosome 14 (UPD14mat) cases (summary by Ioannides et al., 2014).|OMIM|N|
C4015596|Congenital myasthenic syndrome-15 is one of a heterogeneous group of disorders that arise from impaired signal transmission at the neuromuscular synapse and are characterized by fatigable muscle weakness (summary by Cossins et al., 2013).
For a discussion of genetic heterogeneity of CMS, see CMS1A (601462).|OMIM|N|
C4015597|Congenital myasthenic syndrome-14 is an autosomal recessive neuromuscular disorder characterized by onset of limb-girdle muscle weakness in early childhood. The disorder is slowly progressive, and some patients may become wheelchair-bound. There is no respiratory or cardiac involvement. Treatment with anticholinesterase medication may be beneficial (summary by Cossins et al., 2013).
For a discussion of genetic heterogeneity of CMS, see CMS1A (601462).|OMIM|N|
C4015610|Osteogenesis imperfecta type XVI (OI16) is characterized by prenatal onset of multiple fractures of ribs and long bones, blue sclerae, decreased ossification of the skull, and severe demineralization. Heterozygous family members may exhibit recurrent fractures with minimal trauma, osteopenia, and blue sclerae (Keller et al., 2018; Lindahl et al., 2018).|OMIM|N|
C4015624|Vacuolar myopathy with CASQ1 aggregates is an autosomal dominant mild muscle disorder characterized by adult onset of muscle cramping and weakness as well as increased levels of serum creatine kinase (CK). The disorder is not progressive, and some patients may be asymptomatic (summary by Rossi et al., 2014).|OMIM|N|
C4015635|Charcot-Marie-Tooth disease type 2T (CMT2T) is a slowly progressive autosomal recessive sensorimotor peripheral neuropathy with onset in middle age (Higuchi et al., 2016).
For a phenotypic description and a discussion of genetic heterogeneity of axonal CMT, see CMT2A1 (118210).|OMIM|N|
C4015643|Combined oxidative phosphorylation deficiency-24 (COXPD24) is an autosomal recessive mitochondrial disorder with wide phenotypic variability. Most patients present in infancy with delayed neurodevelopment, refractory seizures, hypotonia, and hearing impairment due to auditory neuropathy. Less common features may include cortical blindness, renal dysfunction, and/or liver involvement, suggestive of Alpers syndrome (MTDPS4A; 203700). Patients with the severe phenotype tend to have brain abnormalities on imaging, including cerebral atrophy and hyperintensities in the basal ganglia and brainstem, consistent with Leigh syndrome. Laboratory values may be normal or show increased lactate and evidence of mitochondrial respiratory chain defects, particularly in muscle. Some patients achieve little developmental milestones and may die in infancy or early childhood. However, some patients have a less severe phenotype manifest only by myopathy (summary by Sofou et al., 2015, Vanlander et al., 2015, and Mizuguchi et al., 2017).
For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060).|OMIM|N|
C4015671|Long QT syndrome (LQTS) is a cardiac electrophysiologic disorder, characterized by QT prolongation and T-wave abnormalities on the EKG that are associated with tachyarrhythmias, typically the ventricular tachycardia torsade de pointes (TdP). TdP is usually self-terminating, thus causing a syncopal event, the most common symptom in individuals with LQTS. Such cardiac events typically occur during exercise and emotional stress, less frequently during sleep, and usually without warning. In some instances, TdP degenerates to ventricular fibrillation and causes aborted cardiac arrest (if the individual is defibrillated) or sudden death. Approximately 50% of untreated individuals with a pathogenic variant in one of the genes associated with LQTS have symptoms, usually one to a few syncopal events. While cardiac events may occur from infancy through middle age, they are most common from the preteen years through the 20s. Some types of LQTS are associated with a phenotype extending beyond cardiac arrhythmia. In addition to the prolonged QT interval, associations include muscle weakness and facial dysmorphism in Andersen-Tawil syndrome (LQTS type 7); hand/foot, facial, and neurodevelopmental features in Timothy syndrome (LQTS type 8); and profound sensorineural hearing loss in Jervell and Lange-Nielson syndrome.|GeneReviews|N|
C4015686|Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the ZBTB42 gene.|MONDO|N|
C4015695|Long QT syndrome (LQTS) is a cardiac electrophysiologic disorder, characterized by QT prolongation and T-wave abnormalities on the EKG that are associated with tachyarrhythmias, typically the ventricular tachycardia torsade de pointes (TdP). TdP is usually self-terminating, thus causing a syncopal event, the most common symptom in individuals with LQTS. Such cardiac events typically occur during exercise and emotional stress, less frequently during sleep, and usually without warning. In some instances, TdP degenerates to ventricular fibrillation and causes aborted cardiac arrest (if the individual is defibrillated) or sudden death. Approximately 50% of untreated individuals with a pathogenic variant in one of the genes associated with LQTS have symptoms, usually one to a few syncopal events. While cardiac events may occur from infancy through middle age, they are most common from the preteen years through the 20s. Some types of LQTS are associated with a phenotype extending beyond cardiac arrhythmia. In addition to the prolonged QT interval, associations include muscle weakness and facial dysmorphism in Andersen-Tawil syndrome (LQTS type 7); hand/foot, facial, and neurodevelopmental features in Timothy syndrome (LQTS type 8); and profound sensorineural hearing loss in Jervell and Lange-Nielson syndrome.|GeneReviews|N|
C4015701|A rare genetic developmental defect during embryogenesis malformation syndrome with characteristics of intrauterine growth restriction, flexion arthrogryposis of all joints, severe microcephaly, renal cystic dysplasia/agenesis/hypoplasia and complex malformations of the brain (cerebral and cerebellar hypoplasia, vermis, corpus callosum and/or occipital lobe agenesis, with or without arhinencephaly), as well as of the genitourinary tract (ureteral agenesis/hypoplasia, uterine hypoplasia and/or vaginal atresia), leading to fetal demise.|SNOMEDCT_US|N|
C4015704|Underdevelopment of the ureter.|HPO|N|
C4015710|Tenorio syndrome (TNORS) is characterized by overgrowth, macrocephaly, and impaired intellectual development. Some patients may have mild hydrocephaly, hypoglycemia, and inflammatory diseases resembling Sjogren syndrome (270150) (summary by Tenorio et al., 2014).|OMIM|N|
C4015728|Infantile-onset multisystem neurologic, endocrine, and pancreatic disease-1 (IMNEPD1) is an autosomal recessive multisystemic disorder with variable expressivity. The core features usually include global developmental delay with impaired intellectual development and speech delay, ataxia, sensorineural hearing loss, and pancreatic insufficiency. Additional features may include peripheral neuropathy, postnatal microcephaly, dysmorphic facial features, and cerebellar atrophy. However, some patients may not display all features (summary by Picker-Minh et al., 2016, Sharkia et al., 2017).
Genetic Heterogeneity of Infantile-Onset Multisystem Neurologic, Endocrine, and Pancreatic Disease
See also IMNEPD2 (619418), caused by mutation in the YARS1 gene (603623) on chromosome 1p35.|OMIM|N|
C4015729|Peeling skin syndrome-3 (PSS3) is characterized by asymptomatic lifelong and continuous shedding of the stratum corneum of the epidermis. Symptoms start during the second half of the first decade of life and consist of generalized white scaling occurring over the upper and lower extremities (Cabral et al. (2012)).
For a discussion of genetic heterogeneity of peeling skin syndrome, see PSS1 (270300).|OMIM|N|
C4015932|Decreased or absent activity of the enzyme carbonic anhydrase 1, due to loss-of-function mutation(s) in the gene CA1.|NCI|N|
C4015949|Osteogenesis imperfecta type IIC presents with varying thickness of the ribs, discontinuous beading of the ribs, malformed scapula and ischia, and long bones with thin shafts and expanded metaphyses. Type IIC is extremely rare. Appearances have been reported in fetuses with mutations in the MESD gene (15q25). The disease is either autosomal dominant or autosomal recessive depending on the gene involved. Autosomal dominant cases occur either sporadically or due to germline mosaicism.|SNOMEDCT_US|N|
C4016019|A very rare genetic syndrome characterized by reduced replicative DNA ligase I. It results in immunodeficiency and cellular hypersensitivity to DNA-damaging agents.|NCI|N|
C4016054|A rare severe and life-threatening genetic disease occurring during the neonatal period. The disease has characteristics of classical Marfan syndrome manifestations in addition to facial dysmorphism (megalocornea, iridodonesis, ectopia lentis, crumpled ears, loose redundant skin giving a ''senile'' facial appearance), flexion joint contractures, pulmonary emphysema and a severe, rapidly progressive cardiovascular disease (including ascending aortic dilatation and severe mitral and/or tricuspid valve insufficiency). Additionally, skeletal manifestations (arachnodactyly, dolichostenomelia, pectus deformities) are also associated.|SNOMEDCT_US|N|
C4016255|An inherited susceptibility or predisposition to developing exfoliation syndrome.|MONDO|N|
C4016301|A rare genetic polymalformative syndrome with increased risk of developing cancer, with characteristics of a Noonan-like phenotype, including typical dysmorphic facial features (such as high forehead, hypertelorism, downslanting palpebral fissures, ptosis, low-set ears, prominent philtrum and short neck with or without pterygium colli), thoracic abnormalities, congenital heart defects and short stature, associated with a very frequent occurrence of juvenile myelomonocytic leukemia. Developmental delay, ectodermal anomalies, joint laxity and hypotonia may also be associated. Caused by heterozygous mutation in the CBL gene.|SNOMEDCT_US|N|
C4016325|Untreated complete plasminogen activator inhibitor 1 (PAI-1) deficiency is characterized by mild-to-moderate bleeding, although in some instances bleeding can be life threatening. Most commonly, delayed bleeding is associated with injury, trauma, or surgery; spontaneous bleeding does not occur. While males and females with complete PAI-1 deficiency are affected equally, females may present more frequently with clinical manifestations or earlier in life than males due to menorrhagia and postpartum hemorrhage. Fewer than ten families with complete PAI-1 deficiency have been reported to date. The incidence of complete PAI-1 deficiency is higher than expected in the genetic isolate of the Old Order Amish population of eastern and southern Indiana due to a pathogenic founder variant. In one family from this Old Order Amish population, seven individuals had cardiac fibrosis ranging from minimal-to-moderate (6 individuals) to severe (1).|GeneReviews|N|
C4016368|An autosomal recessive hereditary neuromuscular disorder with characteristics of central cores on muscle biopsy and clinical features of a congenital myopathy. Typical presentation is in infancy with hypotonia and motor developmental delay and predominantly proximal weakness pronounced in the hip girdle. Caused by mutations in the skeletal muscle ryanodine receptor (RYR1) gene, encoding the principal skeletal muscle sarcoplasmic reticulum calcium release channel (RyR1). Altered excitability and/or changes in calcium homeostasis within muscle cells due to mutation-induced conformational changes in the RyR protein are considered to be the main pathogenetic mechanism(s).|SNOMEDCT_US|N|
C4016420|An inherited susceptibility or predisposition to developing capillary infantile hemangioma.|MONDO|N|
C4016601|A rare myelodysplastic syndrome (MDS) characterized by ineffective hemopoiesis affecting one or more blood cell lineages (myeloid, erythroid or megakaryocytic) leading to peripheral blood cytopenias and an increased risk of developing leukaemia.|ORDO|N|
C4016741|Immunodeficiency-32B is an autosomal recessive primary immunodeficiency characterized by recurrent infections resulting from variable defects in immune cell development or function, including monocytes, dendritic cells, and natural killer (NK) cells. Patients have particular susceptibility to viral disease (summary by Mace et al., 2017).|OMIM|N|
C4016819|3-Methylglutaconic aciduria type I (MGCA1) is a rare autosomal recessive disorder of leucine catabolism. The metabolic landmark is urinary excretion of 3-methylglutaconic acid (3-MGA) and its derivatives 3-methylglutaric acid (3-MG) and 3-hydroxyisovaleric acid (3-HIVA). Two main presentations have been described: one with onset in childhood associated with the nonspecific finding of psychomotor retardation, and the other with onset in adulthood of a progressive neurodegenerative disorder characterized by ataxia, spasticity, and sometimes dementia; these patients develop white matter lesions in the brain. However, some asymptomatic pediatric patients have been identified by newborn screening and show no developmental abnormalities when reexamined later in childhood (summary by Wortmann et al., 2010).
Genetic Heterogeneity and Classification of Methylglutaconic Aciduria
Methylglutaconic aciduria is a clinically and genetically heterogeneous disorder. Type II MGCA (MGCA2), also known as Barth syndrome (BTHS; 302060), is caused by mutation in the tafazzin gene (TAZ; 300394) on chromosome Xq28. It is characterized by mitochondrial cardiomyopathy, short stature, skeletal myopathy, and recurrent infections; cognitive development is normal. Type III MGCA (MGCA3; 258501), caused by mutation in the OPA3 gene (606580) on chromosome 19q13, involves optic atrophy, movement disorder, and spastic paraplegia. In types II and III, the elevations of 3-methylglutaconate and 3-methylglutarate in urine are modest. Type IV MGCA (MGCA4; 250951) represents an unclassified group of patients who have severe psychomotor retardation and cerebellar dysgenesis. Type V MGCA (MGCA5; 610198), caused by mutation in the DNAJC19 gene (608977) on chromosome 3q26, is characterized by early-onset dilated cardiomyopathy with conduction defects, nonprogressive cerebellar ataxia, testicular dysgenesis, and growth failure in addition to 3-methylglutaconic aciduria (Chitayat et al., 1992; Davey et al., 2006). Type VI MGCA (MGCA6; 614739), caused by mutation in the SERAC1 gene (614725) on chromosome 6q25, includes deafness, encephalopathy, and a Leigh-like syndrome. Type VII MGCA (MGCA7B, 616271 and MGCA7A, 619835), caused by mutation in the CLPB gene (616254) on chromosome 11q13, includes cataracts, neurologic involvement, and neutropenia. Type VIII MGCA (MGCA8; 617248) is caused by mutation in the HTRA2 gene (606441) on chromosome 2p13. Type IX MGCA (MGCA9; 617698) is caused by mutation in the TIMM50 gene (607381) on chromosome 19q13.
Eriguchi et al. (2006) noted that type I MGCA is very rare, with only 13 patients reported in the literature as of 2003.
Wortmann et al. (2013) proposed a pathomechanism-based classification for 'inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature.'|OMIM|N|
C4016948|Imerslund-Grasbeck syndrome-2 (IGS2) is an autosomal recessive disorder characterized by onset of megaloblastic anemia associated with decreased serum vitamin B12 (cobalamin, Cbl) in infancy or early childhood. Low molecular weight (LMW) proteinuria is frequently present, but usually occurs later and is usually mild or subclinical. Patients often present with vague symptoms, including failure to thrive, loss of appetite, fatigue, lethargy, and/or recurrent infections. Treatment with vitamin B12 results in sustained clinical improvement of the anemia. The proteinuria is nonprogressive, and affected individuals do not have deterioration of kidney function; correct diagnosis is important to prevent unnecessary treatment. The disorder results from a combination of vitamin B12 deficiency due to selective malabsorption of the vitamin, and impaired reabsorption of LMW proteins in the proximal renal tubule. These defects are caused by disruption of the AMN/CUBN (602997) complex that forms the 'cubam' receptor responsible for intestinal uptake of B12/GIF (CBLIF; 609342). In the kidney, AMN/CUBN interacts with the endocytic receptor megalin (LRP2; 600073), which is important for the reabsorption of plasma proteins (summary by Grasbeck, 2006, De Filippo et al., 2013, and Storm et al., 2013).
For a discussion of genetic heterogeneity of Imerslund-Grasbeck syndrome, see 261100.|OMIM|N|
C4017127|Canavan disease is a rare inherited disorder that damages the ability of nerve cells (neurons) in the brain to send and receive messages. This disease is one of a group of genetic disorders called leukodystrophies. Leukodystrophies disrupt the growth or maintenance of the myelin sheath, which is the covering that protects nerves and promotes the efficient transmission of nerve impulses.\n\nNeonatal/infantile Canavan disease is the most common and most severe form of the condition. Affected infants appear normal for the first few months of life, but by age 3 to 5 months, problems with development become noticeable. These infants usually do not develop motor skills such as turning over, controlling head movement, and sitting without support. Other common features of this condition include weak muscle tone (hypotonia), an unusually large head size (macrocephaly), and irritability. Feeding and swallowing difficulties, seizures, and sleep disturbances may also develop.\n\nThe mild/juvenile form of Canavan disease is less common. Affected individuals have mildly delayed development of speech and motor skills starting in childhood. These delays may be so mild and nonspecific that they are never recognized as being caused by Canavan disease.\n\nThe life expectancy for people with Canavan disease varies. Most people with the neonatal/infantile form live only into childhood, although some survive into adolescence or beyond. People with the mild/juvenile form do not appear to have a shortened lifespan.|MedlinePlus Genetics|N|
C4017171|Trichothiodystrophy is a rare autosomal recessive disorder in which patients have brittle, sulfur-deficient hair that displays a diagnostic alternating light and dark banding pattern, called 'tiger tail banding,' under polarizing microscopy. TTD patients display a wide variety of clinical features, including cutaneous, neurologic, and growth abnormalities. Common additional clinical features are ichthyosis, intellectual/developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections. There are both photosensitive and nonphotosensitive forms of the disorder. Patients with TTD have not been reported to have a predisposition to cancer (summary by Faghri et al., 2008).
For a discussion of genetic heterogeneity of TTD, see 601675.|OMIM|N|
C4017377|Any spondyloepimetaphyseal dysplasia with joint laxity in which the cause of the disease is a mutation in the B3GALT6 gene.|MONDO|N|
C4017540|An inherited susceptibility or predisposition to developing allergic rhinitis.|MONDO|N|
C4018849|An abnormal fear-induced behavior includes observable actions. This behavior is characterized by abnormal responses to fear or abnormal fear levels. Examples of such behavior include avoiding fear-inducing situations.|HPO|N|
C4018858|The J wave is a positive convex deflection that occurs at the junction of the QRS complex and ST segment, the J-point.|HPO|N|
C4018860|A type of pituitary adenoma that produces growth hormone.|HPO|N|
C4018871|An abnormality of the respiratory system, which include the airways, lungs, and the respiratory muscles.|HPO|N|
C4018905|At a point before the usual, expected, or specified time.|NCI|N|
C4018912|The patient''s decision about an intervention or a procedure offered.|NCI|N|
C4018978|Tumors or cancer found specifically in one human BREAST, but not in both.|MSH|N|
C4019019|Problem associated with an incorrect image orientation on the device display.|NCI|N|
C4019084|The presence of developmental dysplasia of the pancreas.|HPO|N|
C4019128|The pregnancy status of an individual at the time of an illness or condition.|NCI|N|
C4019167|Persistent difficulty with speech sound production such that it interferes with verbal communication.|MSH|N|
C4019436|The presence of circulating autoantibodies to phospholipids.|HPO|N|
C4020660|Increased width of the proximal phalanx of the 4th finger.|HPO|N|
C4020690|An abnormality of the conduction of electrical impulses by peripheral (motor or sensory) nerves. This finding is elicited by a nerve conduction study (NCS).|HPO|N|
C4020703|The presence of a piece lung tissue which is not attached to the pulmonary blood supply and does not communicate with the other lung tissue (not connected to the standard bronchial airways and not performing a function in respiration).|HPO|N|
C4020704|The presence of a neoplasm of the testis with origin in a Sertoli cell.|HPO|N|
C4020705|A condition characterized by dilatation of the Bowman space and affecting more than 5% of the glomeruli.|NCI|N|
C4020716|An abnormal functionality of the male genital system.|HPO|N|
C4020718|Increased width of the nasal ridge.|HPO|N|
C4020720|A developmental anomnaly characterized by underdevelopment of the posterior communicating artery.|HPO|N|
C4020725|Coronary disease that has not progressed to the point of causing significant occlusion (blockage) of the coronary arteries.|HPO|N|
C4020730|An abnormal increase in intracellular lipid droplets In a muscle. The number and size of these drops can increase with somd disorders of lipid metabolism affecting muscle. See PMID 20691590 for histological images.|HPO|N|
C4020731|A deviation from the normal concentration of creatine in the blood circulation. Creatine is a derivative of glycine having methyl and amidino groups attached to the nitrogen. Creatine is naturally produced from amino acids, primarily in liver and kidney, and acts as an energy source for cells, primarly for muscle cells.|HPO|N|
C4020735|An increased concentration of vanillylmandelic acid in the urine.|HPO|N|
C4020736|An increased concentration of homovanillic acid in the urine.|HPO|N|
C4020740|Bending or curvature of a fourth toe in the tibial direction (i.e., towards the big toe).|HPO|N|
C4020750|Underdevelopment of the vestibular nerve.|HPO|N|
C4020755|An abnormality of the fontanelle.|HPO|N|
C4020770|An abnormality of the premaxilla (the embryonic structure that forms the anterior part of the maxilla) causing it to appear relatively small in size compared to the other parts of the maxilla or other facial structures.|HPO|N|
C4020784|A cone-shaped appearance of the epiphysis of the proximal phalanx of the little finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx.|HPO|N|
C4020797|Median longitudinal length of the ear more than two standard deviations below the mean in the presence of some, but not all, parts of the normal ear.|HPO|N|
C4020800|A reduction in the activity of the mitochondrial respiratory chain complex IV, which is part of the electron transport chain in mitochondria.|HPO|N|
C4020815|Agenesis of incisor.|HPO|N|
C4020818|An abnormal conical morphology of the primary or permanent mandibular incisors.|HPO|N|
C4020825|Irregular surface of the normally relatively smooth capital femoral epiphysis.|HPO|N|
C4020828|Increased bone density affecting the bones of the spine (vertebral column).|HPO|N|
C4020831|An abnormal union between bones or parts of bones of the hand.|HPO|N|
C4020834|Ossification of hand bones at an earlier age than normal.|HPO|N|
C4020847|An abnormality of the bony pelvic girdle, which is a ring of bones connecting the vertebral column to the femurs.|HPO|N|
C4020862|An anomaly of erythroid lineage cells, that is, of the erythropoietic cells in the lineage leading to and including erythrocytes.|HPO|N|
C4020869|A structural abnormality of the abdomen ('belly'), that is, the part of the body between the pelvis and the thorax.|HPO|N|
C4020870|An abnormality of the hip joint.|HPO|N|
C4020900|An abnormality of the arm.|HPO|N|
C4020901|Increased side-to-side width of the xiphoid process of the sternum.|HPO|N|
C4020902|A deviation from normal of the concentration of 2-oxoglutaric acid in the urine.|HPO|N|
C4020903|Partial or complete duplication of one or more phalanx of little toe.|HPO|N|
C4020904|The presence of multiple sausage-shaped swellings of the myelin sheath (The Latin tomaculum means sausage).|HPO|N|
C4020905|Dissolution or degeneration of bone tissue of one or more phalanges of the thumb.|HPO|N|
C4020906|Failure to form (agenesis) of one or more epiphyses of the big toe.|HPO|N|
C4020907|The presence of spots or rounded patches of abnormally increased density of metaphyseal bone.|HPO|N|
C4020908|A darker than expected signal on magnetic resonance imaging emanating from the cerebral white matter.|HPO|N|
C4020909|Insertion of the posterior columella superior to the nasal base.|HPO|N|
C4020910|Increased protrusion of the antihelical ridge, proximal to its bifurcation, relative to the prominence of the helix.|HPO|N|
C4020911|The presence of one or more dendritic corneal epithelial ulcers characterized by a treelike branching linear pattern with feathery edges and terminal bulbs. Herpetiform corneal ulcers can be identified by fluorescein staining.|HPO|N|
C4020912|Flaring (increase of width with a splayed appearance) of the humeral metaphysis.|HPO|N|
C4020914|An abnormality of the vomer.|HPO|N|
C4020915|Folds or ridges within the concha that are distinct from the crus helix.|HPO|N|
C4020916|Vertical crease fold situated below the vermilion border of the lower lip and above the fatty pad of the chin with the face at rest.|HPO|N|
C4020917|Absence of nail of little finger.|HPO|N|
C4020918|Different levels of maturation of different bones.|HPO|N|
C4020919|Dense radiopaque bands of bone which are thicker than the adjacent diaphyseal cortex and may form at the metaphysis of growing bones. They appear on radiographs as bone that is more radiopaque that the adjacent diaphyseal cortex.|HPO|N|
C4020921|An increase in size of the subarachnoid space associated with the lateral cerebral sulcus (Sylvian fissure).|HPO|N|
C4020923|An elevation in bone density in one or more distal phalanges of the toes. Sclerosis is normally detected on a radiograph as an area of increased opacity.|HPO|N|
C4020924|An elevation in bone density in one or more middle phalanges of the toes. Sclerosis is normally detected on a radiograph as an area of increased opacity.|HPO|N|
C4020925|An elevation in bone density in one or more proximal phalanges of the toes. Sclerosis is normally detected on a radiograph as an area of increased opacity.|HPO|N|
C4020926|An elevation in bone density in one or more phalanges of the big toe. Sclerosis is normally detected on a radiograph as an area of increased opacity.|HPO|N|
C4020927|An elevation in bone density in one or more phalanges of the fifth toe. Sclerosis is normally detected on a radiograph as an area of increased opacity.|HPO|N|
C4020928|An elevation in bone density in one or more phalanges of the fourth toe. Sclerosis is normally detected on a radiograph as an area of increased opacity.|HPO|N|
C4020929|An elevation in bone density in one or more phalanges of the third toe. Sclerosis is normally detected on a radiograph as an area of increased opacity.|HPO|N|
C4020930|An elevation in bone density in one or more phalanges of the second toe. Sclerosis is normally detected on a radiograph as an area of increased opacity.|HPO|N|
C4020931|An elevation in bone density in one or more foot bones. Sclerosis is normally detected on a radiograph as an area of increased opacity.|HPO|N|
C4020932|An elevation in bone density in one or more phalanges of the toes. Sclerosis is normally detected on a radiograph as an area of increased opacity.|HPO|N|
C4020934|An elevation in bone density in one or more phalanges of the fifth finger. Sclerosis is normally detected on a radiograph as an area of increased opacity.|HPO|N|
C4020935|An elevation in bone density in one or more phalanges of the fourth finger. Sclerosis is normally detected on a radiograph as an area of increased opacity.|HPO|N|
C4020936|An elevation in bone density in one or more phalanges of the third finger. Sclerosis is normally detected on a radiograph as an area of increased opacity.|HPO|N|
C4020937|An elevation in bone density in one or more phalanges of the second finger. Sclerosis is normally detected on a radiograph as an area of increased opacity.|HPO|N|
C4020938|An elevation in bone density in one or more proximal phalanges of the fingers. Sclerosis is normally detected on a radiograph as an area of increased opacity.|HPO|N|
C4020939|An elevation in bone density in one or more middle phalanges of the fingers. Sclerosis is normally detected on a radiograph as an area of increased opacity.|HPO|N|
C4020940|An elevation in bone density in one or more distal phalanges of the fingers. Sclerosis is normally detected on a radiograph as an area of increased opacity.|HPO|N|
C4020941|An elevation in bone density in one or more phalanges of the fingers. Sclerosis is normally detected on a radiograph as an area of increased opacity.|HPO|N|
C4020942|Increased prominence of the xiphoid process of the sternum.|HPO|N|
C4020943|A cleft of the xiphoid process of the sternum.|HPO|N|
C4020944|An abnormality of the Common bile duct, a tube-like anatomic structure in the human gastrointestinal tract, formed by the union of the Common hepatic duct and the Cystic duct from the gall bladder.|HPO|N|
C4020945|Persistence of the embryonic dorsal or sciatic vein system that normally should have involuted around the tenth to twelfth week of intrauterine life.|HPO|N|
C4020946|An abnormality of the plantar part of foot, that is of the soles of the feet.|HPO|N|
C4020947|Telangiectases (small dilated blood vessels) located on the skin of sole of foot.|HPO|N|
C4020948|The presence of telangiectases on the skin of palm of hand.|HPO|N|
C4020949|Abnormalities in the intensity, frequency, or duration of emotional experiences.|HPO|N|
C4020950|A tumor (abnormal growth of tissue) of the male external genitalia.|HPO|N|
C4020952|An abnormality of the development of the fingernails.|HPO|N|
C4020953|An anomaly of one or more epiphyses of one or more vertebrae.|HPO|N|
C4020954|A horizontal cleft of the face, varying from slight widening of the mouth, to a cleft extending to the ear.|HPO|N|
C4020955|An abnormality of the Arachnoid mater.|HPO|N|
C4020956|An increase in the degree of curvature of the cornea compared to normal.|HPO|N|
C4020957|Abnormal structure or form of trabecular bone.|HPO|N|
C4020958|Coarse appearance of the components of the network of osseous tissue that makes up the cancellous structure of a bone, i.e., thickening of the (usually fine) white lines that are produced by trabeculae in radiograms.|HPO|N|
C4020959|An abnormality of the pigmentation of the mucosa of the mouth.|HPO|N|
C4020960|An anomaly of the color of the nail.|HPO|N|
C4020961|A displacement of the external urethral orifice from its normal position (in males normally placed at the tip of glans penis, in females normally placed about 2.5 cm behind the glans clitoridis and immediately in front of that of the vagina).|HPO|N|
C4020963|The nostrils (the paired channels of the nose) are not present.|HPO|N|
C4020964|A fibrous cardiac diverticulum refers to an aneurysm and usually appears as an isolated congenital anomaly.|HPO|N|
C4020966|An abnormality of the formation and mineralization of one or more vertebrae.|HPO|N|
C4020967|An abnormality of the forebrain, which has as its parts the telencephalon, diencephalon, lateral ventricles and third ventricle.|HPO|N|
C4020968|An abnormal site of the kidney.|HPO|N|
C4020969|Inflammation of the eye, parts of the eye or the periorbital region.|HPO|N|
C4020972|Bony fusion of the middle and proximal phalanges of the 2nd toe.|HPO|N|
C4020973|Bony fusion of the middle and proximal phalanges of the 5th toe.|HPO|N|
C4020974|Bony fusion of the middle and proximal phalanges of the 4th toe.|HPO|N|
C4020975|Bony fusion of the middle and proximal phalanges of the 3rd toe.|HPO|N|
C4020976|Partial duplication of the proximal phalanx of fifth toe.|HPO|N|
C4020977|Partial duplication of proximal phalanx of third toe.|HPO|N|
C4020978|Partial duplication of the middle phalanx of the 5th toe.|HPO|N|
C4020979|Partial duplication of middle phalanx of fourth toe.|HPO|N|
C4020980|Partial duplication of middle phalanx of third toe.|HPO|N|
C4020981|Partial duplication of the distal phalanx of little toe.|HPO|N|
C4020982|Partial duplication of the distal phalanx of fourth toe.|HPO|N|
C4020983|Partial duplication of distal phalanx of third toe.|HPO|N|
C4020984|Complete duplication of the proximal phalanx of fifth toe.|HPO|N|
C4020985|Complete duplication of the middle phalanx of the 5th toe.|HPO|N|
C4020986|Complete duplication of middle phalanx of fourth toe.|HPO|N|
C4020987|Complete duplication of middle phalanx of third toe.|HPO|N|
C4020988|Complete duplication of the distal phalanx of little toe.|HPO|N|
C4020989|Complete duplication of the distal phalanx of fourth toe.|HPO|N|
C4020990|Complete duplication of distal phalanx of third toe.|HPO|N|
C4020991|Partial or complete duplication of the proximal phalanx of fifth toe.|HPO|N|
C4020992|Partial or complete duplication of the proximal phalanx of fourth toe.|HPO|N|
C4020993|Partial or complete duplication of proximal phalanx of third toe.|HPO|N|
C4020994|Partial or complete duplication of the middle phalanx of the 5th toe.|HPO|N|
C4020995|Partial or complete duplication of middle phalanx of fourth toe.|HPO|N|
C4020996|Partial or complete duplication of middle phalanx of third toe.|HPO|N|
C4020997|Partial or complete duplication of the distal phalanx of little toe.|HPO|N|
C4020998|Partial or complete duplication of the distal phalanx of fourth toe.|HPO|N|
C4020999|Partial or complete duplication of distal phalanx of third toe.|HPO|N|
C4021000|Developmental hypoplasia of the proximal phalanx of fifth toe.|HPO|N|
C4021001|Developmental hypoplasia of the proximal phalanx of fourth toe.|HPO|N|
C4021002|Abnormal reduction in length of proximal phalanx of third toe.|HPO|N|
C4021003|Developmental hypoplasia of the middle phalanx of the 5th toe.|HPO|N|
C4021004|Developmental hypoplasia of the middle phalanx of fourth toe.|HPO|N|
C4021005|Developmental hypoplasia of the middle phalanx of third toe.|HPO|N|
C4021006|Developmental hypoplasia of the distal phalanx of little toe.|HPO|N|
C4021007|Developmental hypoplasia of the distal phalanx of fourth toe.|HPO|N|
C4021008|Developmental hypoplasia of the distal phalanx of third toe.|HPO|N|
C4021009|Absence of proximal phalanx of third toe, owing to a congenital defect of development.|HPO|N|
C4021010|Developmental aplasia of the middle phalanx of third toe.|HPO|N|
C4021011|Developmental aplasia of the distal phalanx of third toe.|HPO|N|
C4021012|Developmental hypoplasia of one or more phalanx of little toe.|HPO|N|
C4021013|Developmental hypoplasia of one or more phalanx of fourth toe.|HPO|N|
C4021014|Developmental hypoplasia of the phalanx of third toe.|HPO|N|
C4021015|The distal interphalangeal joint of the 2nd toe cannot be straightened actively or passively.|HPO|N|
C4021016|The proximal interphalangeal joint of the fifth toe cannot be straightened actively or passively.|HPO|N|
C4021017|The proximal interphalangeal joint of the 4th toe cannot be straightened actively or passively.|HPO|N|
C4021018|The proximal interphalangeal joint of the 3rd toe cannot be straightened actively or passively.|HPO|N|
C4021019|The proximal interphalangeal joint of the 2nd toe cannot be straightened actively or passively.|HPO|N|
C4021020|Clefting (gap or groove) of the upper lip affecting the lateral portions of the upper lip rather than the midline/median region.|HPO|N|
C4021021|Cerebral eosinophilic, discrete, intracytoplasmatic inclusions of unknown significance.|HPO|N|
C4021022|Presence of abundant argyrophilic grains and coiled bodies on microscopic examination of brain tissue.|HPO|N|
C4021024|Unusual regions of densely packed membranous tubules known as tubular aggregates which present as membranous inclusions, derived from membranes of sarcoplasmic reticulum and mitochondria, containing miscellaneous proteins with a variety of enzymatic activities.|HPO|N|
C4021025|The carpus consists of the scaphoid, lunate, triquetal, pisiform, captitate, hamate, trapezoid, and trapezium bones. The tarsus consists of the talus, calcaneus, cuboid, cuneiform, and navicular bones. This term applies if there is any fusion among the bones of the carpus or tarsus.|HPO|N|
C4021026|An abnormality of the structure or form of the tendons, also often called sinews.|HPO|N|
C4021027|An abnormality of the medullary cavity (medulla, innermost part), which is the central cavity of bone shafts where red bone marrow and/or yellow bone marrow (adipose tissue) is stored.|HPO|N|
C4021028|A band of bone material of decreased density forming alongside the surface of the cortical bone with thickening of the periosteum. Callus formation in the affected area is common and gives the appearance of a false fracture.|HPO|N|
C4021029|An unusually happy demeanor over time, which can also be observed during inappropriate situations that should, for example, cause distress, fear, or anger.|HPO|N|
C4021032|A deviation from the normal concentration of cobalamin (vitamin B12) in the blood. Vitamin B12 is one of the eight B vitamins.|HPO|N|
C4021036|Any deviation from the normal overall count of natural killer (NK) cells in the circulation or a deviation from the normal distribution of NK cell subtypes.|HPO|N|
C4021037|Any deviation from the normal concentration of folate in the blood circulation.|HPO|N|
C4021038|A deviation from the normal concentration of renin in the blood, a central hormone in the control of blood pressure and various other physiological functions.|HPO|N|
C4021039|Lack of CD4+CD25+ T regulatory cells.|HPO|N|
C4021040|One or more brown punctate macules on the skin of the genitalia.|HPO|N|
C4021041|The occurence of an elevated body temperature of the mother during pregnancy.|HPO|N|
C4021042|Limitation of wrist and finger extension on asking patient to form a prayer sign. This is a result of progressive wrist and finger flexion contractures.|HPO|N|
C4021043|Immunohistochemistry shows accumulation of desmin protein in the muscle biopsy.|HPO|N|
C4021044|The presence of autoantibodies (immunoglobulins) in the serum that react against muscle specific kinase (anti-MuSK Ab).|HPO|N|
C4021045|The variation in the time interval between the two action potentials of the same motor unit is called jitter. This term therefore applies to increased variability in the interval between successive action potentials of the same motor unit, which is measured by electromyography (EMG).|HPO|N|
C4021046|An anomaly in the communication from a neuron to a target across a synapse in the peripheral nervous system.|HPO|N|
C4021047|The vestibulo-ocular reflex is responsible for the stabilization of the retinal image during movement. The visual vestibular ocular reflex (VVOR) or visual enhanced VOR, maintains ocular stability during head motion by generating compensatory eye movement opposite to head movement, and is a major component of visual vestibular interaction. This feature is an impairment of this reflex, manifested as the combined impairment of the three compensatory eye movement reflexes, namely the vestibulo-ocular reflex (VOR), smooth pursuit (SP) and optokinetic reflex (OKR).|HPO|N|
C4021048|Dorsal extension of the big toe, sometimes accompanied by fanning of the other toes, elicited by compressing the calf muscles (a normal response is no movement of the big toe).|HPO|N|
C4021049|Increased amount of peripheral myelination.|HPO|N|
C4021050|Increase in diameter of the veins located underneath the skin of the abdomen.|HPO|N|
C4021051|The presence of autoantibodies (immunoglobulins) in the serum that react against mitochondria.|HPO|N|
C4021053|A decreased amount of dystrophin in muscle fiber tissue.|HPO|N|
C4021054|A decreased amount of collagen VI in muscle tissue. Collagen VI is a primarily associated with the extracellular matrix of skeletal muscle.|HPO|N|
C4021055|Lack of merosin protein in the muscle biopsy.|HPO|N|
C4021056|Presence of struvite (magnesium ammonium phosphate) containing calculi (kidney stones).|HPO|N|
C4021057|Divergence of digits along the A/P axis (in the plane of the palm).|HPO|N|
C4021058|An anomaly identified by motor evoked potentials (MEPs) in the leg.|HPO|N|
C4021059|An anomaly identified by motor evoked potentials (MEPs) in the arm.|HPO|N|
C4021060|Overgrowth of the outer labia.|HPO|N|
C4021061|Formation of excess connective tissue in the testicle.|HPO|N|
C4021062|Increased pigmentation (skin color) of the scrotum.|HPO|N|
C4021063|Presence of multiple trichilemmomata, a benign tumor originating from the outer root sheath of the hair follicle.|HPO|N|
C4021065|Increased bulk of tissue alongside the nose. The fullness can be caused by both bony and soft tissues.|HPO|N|
C4021066|Bigonial distance (lower facial width) more than 2 standard deviations below the mean (objective); or an apparently decreased width of the lower jaw (mandible) when viewed from the front (subjective).|HPO|N|
C4021067|A cranial suture that is in addition to canonical membrane-covered openings in the incompletely ossified skull of the fetus or newborn infant.|HPO|N|
C4021068|A kinked appearance of the brainstem, i.e., an exaggerated flexure.|HPO|N|
C4021069|An anomaly in the process of intramembranous ossification by which flat bones (cranial bones of the skull, i.e., the frontal, parietal, occipital, and temporal bones, and the clavicles) are formed.|HPO|N|
C4021070|A developmental anomaly in which the mastoid process fails to form and is thus found to be congenitally absent.|HPO|N|
C4021071|Failure to develop of the small intestine.|HPO|N|
C4021072|Agenesis of canine tooth.|HPO|N|
C4021073|Abnormal structure of the gastrointestinal tract.|HPO|N|
C4021074|A severe form of conductive hearing impairment.|HPO|N|
C4021075|The presence of a moderate form of conductive hearing impairment.|HPO|N|
C4021076|An abnormal build up of iron (Fe) in brain tissue.|HPO|N|
C4021077|An anomaly of the suspensory ligament of lens, also known as the ciliary zonule. These ligaments represent a series of fibers connecting the ciliary body and lens of the eye, holding the lens in place.|HPO|N|
C4021078|An decreased concentration of chloride in the urine.|HPO|N|
C4021079|A partial duplication of the ureter where the duplicated ureters fuse to a single ureter before their insertion into the bladder.|HPO|N|
C4021080|Increased concentration of beta-alanine in the blood.|HPO|N|
C4021081|Absent nail of big toe.|HPO|N|
C4021082|Muscle fibers degeneration resulting in fatty replacement of skeletal muscle fibers|HPO|N|
C4021083|An anomaly in the communication from a neuron to a target across a synapse. This is a four step process, comprising (i) synthesis and storage of neurotransmitters; (ii) neurotransmitter release; (iii) activation of postsynaptic receptors by the neurotransmitter; and (iv) inactivation of the neurotransmitter. Thus, this term is defined as an anomaly of neurotransmitter metabolic process.|HPO|N|
C4021084|Congenital absence of the optic nerve.|HPO|N|
C4021085|A structural abnormality of the brain, which has as its parts the forebrain, midbrain, and hindbrain.|HPO|N|
C4021086|A structural abnormality of the biliary tree.|HPO|N|
C4021087|An abnormality of actions or reactions of a person taking place during interactions with others.|HPO|N|
C4021088|Protruding heel bone, or calcaneus.|HPO|N|
C4021089|Overgrowth of the choroid plexus.|HPO|N|
C4021090|A greater than normal concentration of citrate(3-) in the urine.|HPO|N|
C4021092|An abnormal regulation of the sweat glands by the sympathetic nervous system associated with abnormal perspiration.|HPO|N|
C4021093|Concentration of the complement component C9 in the blood circulation below the lower limit of normal.|HPO|N|
C4021094|Abnormal transferrin isoform profile consistent with a type II congenital disorder of glycosylation.|HPO|N|
C4021095|Any structural anomaly of the hypothalamus.|HPO|N|
C4021096|A structural or developmental anomaly of any of the tissues involved in the genital system.|HPO|N|
C4021098|An anomaly of the natural killer cell, which is a lymphocyte that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors. It also regulates immune responses via cytokine release and direct contact with other cells.|HPO|N|
C4021099|An increase in heart rate with standing of 30 beats per minute or more.|HPO|N|
C4021100|Increased width of the cross sectional diameter of the fibula.|HPO|N|
C4021101|An abnormal concentration of creatinine in the blood.|HPO|N|
C4021102|An abnormal catecholamine concentration in the blood.|HPO|N|
C4021103|A functional anomaly of the acinar gland portion of the pancreas that secretes digestive enzymes.|HPO|N|
C4021106|Increased activity of coagulation factor V, Factor V, which is activated to factor Va by means of minute amounts of thrombin (and inactivated by larger amounts of thrombin). Activated factor V (fVa) is a cofactor in the formation of the prothrombinase complex.|HPO|N|
C4021107|Absence of any measurable level of sperm in his semen, resulting from a defect in the production of spermatozoa in the testes. This can be differentiated from obstructive azoospermia on the basis of testicular biopsy.|HPO|N|
C4021108|An abnormality of the shape of the thoracic vertebra T12 such that it is wedge-shaped (narrow towards the front).|HPO|N|
C4021110|Proximal mislocalization of the big toe from its normal position.|HPO|N|
C4021111|Underdevelopment (hypoplasia) of the fifth toe.|HPO|N|
C4021112|A type of anemia related to a reduction in the average life span of red blood cells in the peripheral circulation, which is normally around 120 days.|HPO|N|
C4021113|A deviation from the normal count of T cells.|HPO|N|
C4021114|Nasal tip positioned to one side of the midline.|HPO|N|
C4021115|Distance between the philtral ridges, measured just above the vermilion border, more than 2 standard deviations below the mean. Alternatively, an apparently decreased distance between the ridges of the philtrum.|HPO|N|
C4021116|Pit in the midline of the philtral groove.|HPO|N|
C4021117|Absence of the usual parallel position of philtral ridges.|HPO|N|
C4021118|Narrow ridge in the midline of the philtral groove.|HPO|N|
C4021119|Prominence of a triangular soft tissue area of the philtrum with the apex to the columella.|HPO|N|
C4021120|A reduced ability to identify precisely the site of a touch. This test is usually carried out by asking a patient, whose eyes are closed or covered, to touch the same site with a fingertip.|HPO|N|
C4021121|A type of pituitary adenoma that produces thyroid stimulating hormone (TSH).|HPO|N|
C4021122|A type of pituitary adenoma that produces gonadotropins.|HPO|N|
C4021123|Abnormal development of the neurohypophysis during embryonic growth and development.|HPO|N|
C4021124|Overproduction of adrenocorticotropic hormone (ACTH), which generally leads secondarily to overproduction of cortisol by the adrenal cortex.|HPO|N|
C4021125|An hormonally active adrenocortical adenoma, that is, an adenoma that secretes excessive amounts of adrenal hormones.|HPO|N|
C4021126|An hormonally inactive adrenocortical adenoma, that is, an adenoma that does not secrete excessive amounts of adrenal hormones.|HPO|N|
C4021127|Adrenal insufficiency secondary to a defect in corticotropin-releasing hormone production.|HPO|N|
C4021128|Type 4 total anomalous pulmonary venous connection.|HPO|N|
C4021129|Type 3 total anomalous pulmonary venous connection.|HPO|N|
C4021130|Type 2 total anomalous pulmonary venous connection.|HPO|N|
C4021131|Type 1 total anomalous pulmonary venous connection.|HPO|N|
C4021132|Supraventricular tachycardia in which an accessory pathway connecting the atria and ventricles, apart from the AV node, participates as a necessary part of a reentrant mechanism.|HPO|N|
C4021133|Left ventricular non-compaction (LVNC) is characterized by prominent left ventricular trabeculae and deep inter-trabecular recesses. The myocardial wall is often thickened with a thin, compacted epicardial layer and a thickened endocardial layer. In some patients, LVNC is associated with left ventricular dilatation and systolic dysfunction, which can be transient in neonates.|HPO|N|
C4021134|Anomalous origin of one pulmonary artery from the ascending aorta with the contralateral pulmonary artery arising from the right ventricle.|HPO|N|
C4021135|Truncus arteriosus (single great artery leaving the base of the heart, giving rise to the coronary, pulmonary, and systemic arteries) whereby the aortic arch is hypoplastic or interrupted, and a large patent ductus arteriosus is present.|HPO|N|
C4021136|Truncus arteriosus (single great artery leaving the base of the heart, giving rise to the coronary, pulmonary, and systemic arteries) whereby one of the two pulmonary artery branched does not arise from the common pulmonary trunk, but instead from the ductus arteriosus or directly from the aorta.|HPO|N|
C4021137|Truncus arteriosus (single great artery leaving the base of the heart, giving rise to the coronary, pulmonary, and systemic arteries) with each pulmonary artery arising separate from each other on the posterior or lateral aspect of the truncus.|HPO|N|
C4021141|The left common carotid artery has a common origin with the innominate artery.|HPO|N|
C4021142|A congenital stenotic mitral valvular anomaly with a ring of tissue above the mitral valve.|HPO|N|
C4021143|Anomalous mitral valve arcade is diagnosed based on the following features (1) An adequately sized mitral valve orifice; (2) short, thick, and poorly differentiated chordae with direct union of the papillary muscles to the anterior leaflet; (3) narrow or nearly nonexistent spaces between the abnormal chordae; and (4) greater differentiation of the chordae attached to the posterior papillary muscle.|HPO|N|
C4021144|Sharply demarcated hyperpigmentation which is congenital.|HPO|N|
C4021145|Sharply demarcated hyperpigmentation which is congenital found in around 3-5% of the population and of no functional significance.|HPO|N|
C4021146|Increased pigmentation of the fundus|HPO|N|
C4021147|Generalized reduced transparency of the stroma of the cornea.|HPO|N|
C4021148|An abnormality of the medulla oblongata, the lower half of the brainstem.|HPO|N|
C4021149|An abnormally low concentration of maternal serum human chorionic gonadotropin as compared to normal values for gestational-age.|HPO|N|
C4021150|An abnormally high concentration of maternal serum human chorionic gonadotropin as compared to normal values for gestational-age.|HPO|N|
C4021151|A type of disproportionate short stature characterized by a short trunk but a average-sized limbs that is lethal at birth.|HPO|N|
C4021152|An abnormality of myelination of nerves in the central nervous system.|HPO|N|
C4021153|Absence of the vestibular nerve|HPO|N|
C4021154|Increased size of the cochlear duct, i.e., of a duct that communicates between the perilymphatic space and the subarachnoid space, and transmits a vein from the cochlea to join the internal jugular.|HPO|N|
C4021155|An abnormality of the Internal acoustic meatus, i.e., of the canal in the petrous part of the temporal bone through which the cranial nerve VII and cranial nerve VIII traverse.|HPO|N|
C4021156|Increased size of the semicircular canal.|HPO|N|
C4021157|An abnormality of the skin that is not localized to any one particular region.|HPO|N|
C4021158|Cleft of the upper lip that does not go all the way from the bottom of the upper lip until the nasal cavity.|HPO|N|
C4021160|Asymmetry of the posterior part of the skull.|HPO|N|
C4021161|Craniosynostosis involving at least 2 cranial sutures, where the exact pattern of sutures fused has not been precisely specified.|HPO|N|
C4021162|Premature synostosis of only one lambdoid suture.|HPO|N|
C4021163|Premature synostosis of both lambdoid sutures.|HPO|N|
C4021164|Synostosis affecting the right and the left coronal suture.|HPO|N|
C4021165|An abnormality of size or shape of the long bones.|HPO|N|
C4021166|A crease that connects the proximal and distal transverse palmar creases.|HPO|N|
C4021167|The gradual reduction in girth of the toe from proximal to distal.|HPO|N|
C4021168|Toes that are disproportionately narrow (reduced girth) for the hand/foot size or build of the individual.|HPO|N|
C4021169|The absence of a phalangeal segment of a toe or hallux.|HPO|N|
C4021170|An abnormality of the hindbrain, also known as the rhombencephalon.|HPO|N|
C4021171|Increase posterolateral protrusion of the tragus.|HPO|N|
C4021172|A complete or partial duplication of the tragus; expected to lie anterior to the normal tragus.|HPO|N|
C4021173|Increased height of the tragal ridge with a shallow indentation at the apex, giving the appearance of a double peak.|HPO|N|
C4021174|Presence of some auricular structures, but none of these structures conform to recognized ear components.|HPO|N|
C4021175|Presence of all the normal ear components and the median longitudinal length more than two standard deviations below the mean.|HPO|N|
C4021176|Interruption between the ascending helix and the crus helix, allowing the ascending helix to be attached directly to the mastoid.|HPO|N|
C4021177|Positioning of the anterior surface of the ear lobe in a more coronal plane than the remainder of the ear.|HPO|N|
C4021178|Linear, circumferential indentation in the convexity of the outer surface of the helix.|HPO|N|
C4021179|Small expansion of the helical fold at the junction of the superior and descending portions of the helix.|HPO|N|
C4021180|Small defect of the helical fold that lies at the junction of the superior and descending portions of the helix.|HPO|N|
C4021181|Widening, rather than tapering, of the crus at its posterior border near the antihelix.|HPO|N|
C4021182|The anterior origin of the crus encompasses the superior margin of the tragus, the crus overrides the upper portion of the conchal cavum and ends at the antihelix.|HPO|N|
C4021183|Curving course of the crus of the helix, approaching or joining the antitragus.|HPO|N|
C4021184|Extension of the ridge of the crus helix across the ear and connection of the crus to the antihelix.|HPO|N|
C4021185|Continuum between the tragus and ascending helix, without any evidence of a posterior extension (crus) towards the concha.|HPO|N|
C4021186|Reduction in the anterosuperior prominence of the area between the bottom of the incisura and the inner margin of the antihelix.|HPO|N|
C4021187|Double rather than single peak of the antitragus.|HPO|N|
C4021188|Increased protrusion of the superior crus relative to the prominence of a normal antihelix stem.|HPO|N|
C4021189|Decreased protrusion of the superior crus relative to the prominence of a normal antihelix stem.|HPO|N|
C4021190|An abnormality of the superior crus of the antihelix is the upper cartilaginous ridge arising at the bifurcation of the antihelix that ends beneath the fold of the ascending helix, and separates the concha from the triangular fossa.|HPO|N|
C4021191|An abnormality of the inferior crus of the antihelix is the lower cartilaginous ridge arising at the bifurcation of the antihelix that ends beneath the fold of the ascending helix, and separates the concha from the triangular fossa.|HPO|N|
C4021192|Decreased protrusion of the antihelical ridge, proximal to its bifurcation, relative to the prominence of a normal helix.|HPO|N|
C4021193|Posterior curving of the antihelix from its origin at the antitragus, traveling initially almost perpendicular to the descending helix and obscuring some of the concha.|HPO|N|
C4021194|Decreased protrusion of the inferior crus relative to the prominence of the antihelix stem.|HPO|N|
C4021195|Increased protrusion of the inferior crus relative to the prominence of the antihelix stem.|HPO|N|
C4021196|Increased width of the inferred cross-section of the inferior crus.|HPO|N|
C4021197|Antihelix protrusion directed more anteriorly than laterally, forming a shelf overlying the posterior concha.|HPO|N|
C4021198|EEG without electrical activity.|HPO|N|
C4021199|EEG discharges recorded in particular areas of a localized (focal) abnormality in cerebral electrical activity recorded along the scalp by electroencephalography (EEG).|HPO|N|
C4021201|Gastric duplication is a usually cystic malformation of gastrointestinal tract, usually attached to the greater curvature of the stomach and has no communication with the stomach.|HPO|N|
C4021202|An abnormality of the nasal dorsum, also known as the nasal ridge.|HPO|N|
C4021203|Agenesis of molar tooth.|HPO|N|
C4021205|An abnormality of the systemic arterial tree, which consists of the aorta and other systemic arteries.|HPO|N|
C4021206|Increased amount of chromosomal breaks in cultured blood lymphocytes or other cells induced by treatment with ionizing radiation.|HPO|N|
C4021207|An abnormality of the cerebral subcortex.|HPO|N|
C4021208|A deviation from the normal count of B cells, i.e., the cells that are formed in the bone marrow, migrate to the peripheral lymphatic system, and mature into plasma cells or memory cells.|HPO|N|
C4021209|Any deviation from the normal concentration of a fatty acid anion in the blood circulation.|HPO|N|
C4021210|A structural abnormality of the fetal circulation system. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes.|HPO|N|
C4021211|Periodically recurring abnormalities in the EEG.|HPO|N|
C4021212|Periodically occurring generalized periodic complexes.|HPO|N|
C4021213|An abnormal localized reduction in amplitude of the cerebral electrical activity recorded along the scalp by electroencephalography (EEG).|HPO|N|
C4021214|An abnormal generalized reduction in amplitude of the cerebral electrical activity recorded along the scalp by electroencephalography (EEG).|HPO|N|
C4021215|Periodic lateralized epileptiform discharges (PLEDs)are periodic, lateralized, and epileptiform. PLEDs show a relatively constant interval between discharges (0.5 to 3 seconds).|HPO|N|
C4021217|Diffuse slowing of cerebral electrical activity recorded along the scalp by electroencephalography (EEG).|HPO|N|
C4021218|Focal (localized) slow activity reflects focal dysfunction, not diffuse dysfunction (i.e., encephalopathy).|HPO|N|
C4021219|An abnormality in cerebral electrical activity recorded along the scalp by electroencephalography (EEG) and being identified at multiple locations (foci).|HPO|N|
C4021220|Trophic changes is a term used to describe abnormalities in the area of pain that include primarily wasting away of the skin, tissues, or muscle, thinning of the bones, and changes in how the hair or nails grow, including thickening or thinning of hair or brittle nails.|HPO|N|
C4021221|A reduced sense of touch (tactile sensation). This is usually tested with a wisp of cotton or a fine camel's hair brush, by asking patients to say 'now' each time they feel the stimulus.|HPO|N|
C4021222|A reduced ability to discriminate between different temperatures.|HPO|N|
C4021223|Abnormality of the seventh cranial nerve sometimes also referred to as the facial nerve.|HPO|N|
C4021224|Abnormality of the twelfth cranial nerve.|HPO|N|
C4021225|Abnormality of the eleventh cranial nerve.|HPO|N|
C4021226|Any structural abnormality of the fifth cranial nerve.|HPO|N|
C4021227|Reduced bulkiness of the crease or fold of skin running from the lateral margin of the nose, where nasal base meets the skin of the face, to a point just lateral to the corner of the mouth (cheilion or commissure).|HPO|N|
C4021228|A tumor (abnormal growth of tissue) of a gonad.|HPO|N|
C4021229|Insertion of the posterior columella below the nasal base.|HPO|N|
C4021230|Positioning of a lacrimal punctum other than at the medial margins of the eyelid.|HPO|N|
C4021231|Absence of a digit or of one or more phalanges of a toe.|HPO|N|
C4021232|A developmental abnormality characterized by the absence (aplasia) of a metatarsal bone.|HPO|N|
C4021233|Abnormal prominence of the corneal nerve fibers.|HPO|N|
C4021234|Syndactyly with fusion of toes two to four.|HPO|N|
C4021235|Syndactyly with fusion of toes one to five (complete syndactyly of all toes of the foot).|HPO|N|
C4021236|Syndactyly with fusion of the fingers two to four.|HPO|N|
C4021238|Mirror image duplication of digits affecting the feet.|HPO|N|
C4021239|Mirror image duplication of digits affecting the hands only.|HPO|N|
C4021240|An abnormally increased level of alkaline phosphatase, tissue-nonspecific isozyme in the blood.|HPO|N|
C4021241|An abnormality of the formation and mineralization of any bone of the skeleton of foot.|HPO|N|
C4021242|Underdevelopment of the zygomatic bone. That is, a reduction in size of the zygomatic bone, including the zygomatic process of the temporal bone of the skull, which forms part of the zygomatic arch.|HPO|N|
C4021243|An abnormality of the thalamus.|HPO|N|
C4021244|An abnormality of the formation and mineralization of any bone of the skeleton of hand.|HPO|N|
C4021245|Patchy (irregular) changes in bone mineral density with patches of bone showing an increased density side to side with patches that are affected by reduction of mineral density. This is sometimes referred to as a moth-eaten appearance on x-rays.|HPO|N|
C4021246|An abnormality of the formation and mineralization of an epiphysis.|HPO|N|
C4021247|An abnormality of the Falx cerebri.|HPO|N|
C4021248|Any abnormality of a metatarsal bone epiphysis.|HPO|N|
C4021249|Absence of the anterior pituitary gland resulting from a developmental defect.|HPO|N|
C4021250|A cystic lesion originating within the brain.|HPO|N|
C4021251|The presence of developmental dysplasia of the femoral head.|HPO|N|
C4021252|Any abnormality of the proximal epiphysis of the femur.|HPO|N|
C4021253|An abnormally wavy surface or edge of the clavicles.|HPO|N|
C4021254|A soft tissue continuity in the A/P axis between two fingers that extends distally to at least the level of the proximal interphalangeal joints, or a soft tissue continuity in the A/P axis between two fingers that lies significantly distal to the flexion crease that overlies the metacarpophalangeal joint of the adjacent fingers.|HPO|N|
C4021255|Paralysis of voluntary muscles means loss of contraction due to interruption of one or more motor pathways from the brain to the muscle fibers. Although the word paralysis is often used interchangeably to mean either complete or partial loss of muscle strength, it is preferable to use paralysis or plegia for complete or severe loss of muscle strength, and paresis for partial or slight loss. Paralysis due to lesions of the principle motor tracts is related to a lesion in the corticospinal, corticobulbar or brainstem descending (subcorticospinal) neurons.|HPO|N|
C4021256|An abnormal increase in quantity or strength of fetal movements.|HPO|N|
C4021257|Absence of the tarsal bones.|HPO|N|
C4021258|An abnormality of dermatoglyphs on the toes and soles, i.e., an abnormality of the patterns of ridges of the skin of sole of foot.|HPO|N|
C4021259|An abnormal limitation of knee joint mobility.|HPO|N|
C4021260|An abnormally increased length of the metacarpal bones.|HPO|N|
C4021261|A narrow segment of significantly reduced circumference of a digit.|HPO|N|
C4021262|The absence of the major creases of the palm (distal transverse crease, proximal transverse crease, or thenar crease).|HPO|N|
C4021263|Pelvic asymmetry refers to asymmetric positioning of landmarks on the two sides of the pelvis and may have a structural or functional etiology.|HPO|N|
C4021264|A structural abnormality of the interventricular septum.|HPO|N|
C4021265|Reduced length of the proximal phalanx of second toe as a result of developmental hypoplasia.|HPO|N|
C4021266|Reduced length of the middle phalanx of second toe as a result of developmental hypoplasia.|HPO|N|
C4021267|Reduced length of the distal phalanx of the second toe as a result of developmental hypoplasia.|HPO|N|
C4021268|Absence of distal phalanx of the second toe as a result of developmental aplasia.|HPO|N|
C4021269|Reduced length of one or more phalanx of second toe as a result of developmental hypoplasia.|HPO|N|
C4021270|Partial duplication of proximal phalanx of second toe.|HPO|N|
C4021271|Complete duplication of proximal phalanx of second toe.|HPO|N|
C4021272|Partial or complete duplication of the distal phalanx of second toe.|HPO|N|
C4021273|Partial or complete duplication of middle phalanx of second toe.|HPO|N|
C4021274|Partial or complete duplication of proximal phalanx of second toe.|HPO|N|
C4021275|Patchy (irregular) increase in bone density of one or more of the phalanges of the fifth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays.|HPO|N|
C4021276|A deviation from the normal straight form of one or more phalanges of the fifth toe.|HPO|N|
C4021277|An abnormal morphology of one or more phalanges of the fifth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.|HPO|N|
C4021278|Partial or complete duplication of phalanx of fourth toe.|HPO|N|
C4021279|Patchy (irregular) increase in bone density of one or more of the phalanges of the fourth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays.|HPO|N|
C4021280|A deviation from the normal straight form of one or more phalanges of the fourth toe.|HPO|N|
C4021281|An abnormal morphology of one or more phalanges of the fourth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.|HPO|N|
C4021282|Partial or complete duplication of phalanx of third toe.|HPO|N|
C4021283|Patchy (irregular) increase in bone density of one or more of the phalanges of the third toe. This can take on many forms depending on severity and distribution as can be seen on x-rays.|HPO|N|
C4021284|A deviation from the normal straight form of one or more phalanges of the third toe.|HPO|N|
C4021285|An abnormal morphology of one or more phalanges of the third toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.|HPO|N|
C4021286|Partial or complete duplication of a phalanx of second toe.|HPO|N|
C4021287|Patchy (irregular) increase in bone density of one or more of the phalanges of the second toe. This can take on many forms depending on severity and distribution as can be seen on x-rays.|HPO|N|
C4021288|A deviation from the normal straight form of one or more phalanges of the second toe.|HPO|N|
C4021289|An abnormal morphology of one or more phalanges of the second toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.|HPO|N|
C4021290|One or more bent (flexed) joints of the fifth toe that cannot be straightened actively or passively.|HPO|N|
C4021292|One or more bent (flexed) joints of the fourth toe that cannot be straightened actively or passively.|HPO|N|
C4021294|One or more bent (flexed) joints of the third toe that cannot be straightened actively or passively.|HPO|N|
C4021296|One or more bent (flexed) joints of the second toe that cannot be straightened actively or passively.|HPO|N|
C4021298|Absence of the scapulae.|HPO|N|
C4021299|Any abnormality of dentin.|HPO|N|
C4021300|Increased size and/or number of soft tissue folds on the palatal side of the maxillary alveolar ridge.|HPO|N|
C4021301|Distal epiphyses of the hand are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs.|HPO|N|
C4021303|A triangular appearance of the epiphyses of the phalanges of the fingers of the hand.|HPO|N|
C4021304|The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of phalanges of the fingers.|HPO|N|
C4021305|Abnormally small size of the epiphyses of the phalanges of the fingers with respect to age-dependent norms.|HPO|N|
C4021306|A secondary ossification center in the phalanges of the hand that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.|HPO|N|
C4021307|Irregular radiographic opacity of the epiphyses of the phalanges of the fingers.|HPO|N|
C4021308|Fragmented appearance of the epiphyses of the phalanges of the fingers.|HPO|N|
C4021309|Bracket epiphysis refers to an abnormality in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.|HPO|N|
C4021310|Absence of one or more epiphyses of the phalanges of the fingers.|HPO|N|
C4021311|One or more bent (flexed) joints of the first (big) toe that cannot be straightened actively or passively.|HPO|N|
C4021312|Partial/complete duplication of a proximal phalanx of toe.|HPO|N|
C4021313|Patchy (irregular) increase in bone density of one or more of the proximal phalanges of the toes. This can take on many forms depending on severity and distribution as can be seen on x-rays.|HPO|N|
C4021314|Dissolution or degeneration of bone tissue of the proximal toe phalanx.|HPO|N|
C4021315|A deviation from the normal straight shape of a proximal phalanx of one or more toes.|HPO|N|
C4021316|An abnormal morphology of one or more of the proximal phalanges of the toes, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.|HPO|N|
C4021317|Absence (agenesis) or underdevelopment of the proximal phalanx of the toe.|HPO|N|
C4021318|Partial or complete duplication of a middle phalanx of toe.|HPO|N|
C4021319|Patchy (irregular) increase in bone density of one or more of the middle phalanges of the toes. This can take on many forms depending on severity and distribution as can be seen on x-rays.|HPO|N|
C4021320|A deviation from the normal straight form of one or more middle toe phalanges.|HPO|N|
C4021321|An abnormal morphology of one or more middle phalanges of the toes, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.|HPO|N|
C4021322|A partial or complete duplication of one or more distal phalanx of toe.|HPO|N|
C4021323|Patchy (irregular) increase in bone density of one or more of the distal phalanges of the toes. This can take on many forms depending on severity and distribution as can be seen on x-rays.|HPO|N|
C4021324|A deviation from the normal straight form of one or more distal toe phalanges.|HPO|N|
C4021325|An abnormal morphology of one or more distal phalanges of the toes, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.|HPO|N|
C4021326|Absence or underdevelopment of the distal phalanges of the toes.|HPO|N|
C4021327|A morphological anomaly of one or more proximal phalanges of one or more toes.|HPO|N|
C4021328|Partial/complete duplication of one or more phalanx of toe.|HPO|N|
C4021329|Uneven (irregular) increase in bone density of one or more of the phalanges of the foot.|HPO|N|
C4021330|A deviation from the normal straight form of one or more toe phalanges.|HPO|N|
C4021331|An abnormal morphology of one or more phalanges of the toes, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.|HPO|N|
C4021332|The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of phalanges of the toes.|HPO|N|
C4021333|The presence of a supernumerary toe (not a hallux) involving the third or fourth metatarsal with associated osseous syndactyly.|HPO|N|
C4021334|Underdevelopment (hypoplasia) of a phalanx of big toe.|HPO|N|
C4021335|Underdevelopment (hypoplasia) of the distal phalanx of big toe.|HPO|N|
C4021336|Complete duplication of one or more phalanx of big toe.|HPO|N|
C4021338|Increased width of proximal phalanx of big toe.|HPO|N|
C4021340|Patchy (irregular) increase in bone density of one or more phalanges of the big toe. This can take on many forms depending on severity and distribution as can be seen on x-rays.|HPO|N|
C4021341|A deviation from the normal straight form of one or more phalanges of the big toe.|HPO|N|
C4021342|An abnormal morphology of one or more phalanges of the big toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.|HPO|N|
C4021343|An increase in width in one or more phalanges of the big toe.|HPO|N|
C4021344|Displacement of the big toe from its normal position.|HPO|N|
C4021345|The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the first metacarpal bone.|HPO|N|
C4021346|This term applies if one or more of the middle phalanges of the hand are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated.|HPO|N|
C4021347|This term applies if one or more of the proximal phalanges of the hand are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated.|HPO|N|
C4021348|A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the distal phalanges of the hand. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones.|HPO|N|
C4021349|This term applies if one or more of the phalanges of the hand are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated.|HPO|N|
C4021350|Partial duplication of the distal phalanx of little finger, seen on x-rays as a broad and/or bifid phalanx.|HPO|N|
C4021351|Partial or complete duplication of the fifth proximal phalanx of hand.|HPO|N|
C4021352|Partial or complete duplication of the fifth middle phalanx of hand.|HPO|N|
C4021353|Partial or complete duplication of the distal phalanx of little finger.|HPO|N|
C4021354|This term applies if one or more of the phalanges of the 5th finger are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated.|HPO|N|
C4021355|Partial duplication of the distal phalanx of ring finger, seen on x-rays as a broad and/or bifid phalanx.|HPO|N|
C4021356|Partial or complete duplication of the fourth proximal phalanx of hand.|HPO|N|
C4021357|Partial or complete duplication of the middle phalanx of ring finger.|HPO|N|
C4021358|Partial or complete duplication of the distal phalanx of ring finger.|HPO|N|
C4021359|This term applies if one or more of the phalanges of the 4th finger are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated.|HPO|N|
C4021360|Partial duplication of the distal phalanx of middle finger, seen on x-rays as a broad and/or bifid phalanx.|HPO|N|
C4021361|Partial or complete duplication of the third proximal phalanx of hand.|HPO|N|
C4021362|Partial or complete duplication of the middle phalanx of middle finger.|HPO|N|
C4021363|Partial or complete duplication of the distal phalanx of middle finger.|HPO|N|
C4021364|This term applies if one or more of the phalanges of the 3rd finger are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated.|HPO|N|
C4021365|Partial duplication of the distal phalanx of index finger, seen on x-rays as a broad and/or bifid phalanx.|HPO|N|
C4021366|Partial or complete duplication of the middle phalanx of index finger.|HPO|N|
C4021367|Partial or complete duplication of the distal phalanx of index finger.|HPO|N|
C4021368|Partial or complete duplication of the second proximal phalanx of hand.|HPO|N|
C4021369|This term applies if one or more of the phalanges of the 2nd finger are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated.|HPO|N|
C4021370|Complete or partial duplication of the phalanges of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx), a partially fused appearance of the two bones (bifid), two separate bones appearing side to side, or completely duplicated phalanges (proximal and distal phalanx of the thumb and/or 1st metacarpal). In contrast to the phalanges of the digits 2-5 (proximal, middle and distal), the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.|HPO|N|
C4021372|The presence of more than two nostrils.|HPO|N|
C4021373|The presence of a size difference between the left and right cornea.|HPO|N|
C4021374|Absence of the middle ear ossicles, malleus, incus, and stapes.|HPO|N|
C4021375|Attachment of the lobe to the side of the face at the lowest point of the lobe without curving upward.|HPO|N|
C4021376|A notched form of the helix of the ear. That is, a defect in the continuity of the helix, which may occur at any point along its length.|HPO|N|
C4021377|The presence of an abnormally prominent of the crus of the helix. That is, development of the crus helix to the same degree as an average antihelix stem or helix.|HPO|N|
C4021378|Developmental hypoplasia of the crus of the helix. That is, flatter and/or shorter crus helix than average.|HPO|N|
C4021379|An abnormal horizontal axis orientation of the crus of the helix. That is, the main axis of the crus of the helix is perpendicular to the medial longitudinal axis of the ear, instead of sloping inferoposteriorly.|HPO|N|
C4021380|An abnormality of the crus of the helix, which is the horizontal piece of cartilage located outside the ear canal that divides the upper and lower parts of the ear.|HPO|N|
C4021381|Uneven increase in bone density of the proximal phalanges of the hand.|HPO|N|
C4021382|Uneven (irregular) increase in bone density of one or more of the middle phalanges of the hand.|HPO|N|
C4021383|Increased width of the middle phalanx of finger.|HPO|N|
C4021384|Uneven (irregular) increase in bone density of the distal phalanges of the hand.|HPO|N|
C4021385|Any anomaly of distal phalanx of finger.|HPO|N|
C4021386|An anomaly of the joint that connects the upper and the lower arm.|HPO|N|
C4021388|An anomaly of one or more metaphyses of the arms.|HPO|N|
C4021389|A structural abnormality of a diaphysis of the arm.|HPO|N|
C4021390|Fusion of two or more phalangeal bones of the hand.|HPO|N|
C4021391|Increased width of the phalanges of the hand.|HPO|N|
C4021392|Complete or nearly complete soft tissue fusion of the alveolar ridges.|HPO|N|
C4021394|Developmental hypoplasia of the antihelix.|HPO|N|
C4021395|An abnormality of the antihelix.|HPO|N|
C4021396|A benign or malignant neoplasm (tumor) originating in striated muscle, either skeletal muscle or cardiac muscle.|HPO|N|
C4021397|Fusion of the 1st metacarpal with another bone. In contrast to the proximal phalanges of the digits 2 to 5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.|HPO|N|
C4021398|Fusion involving two or more metacarpal bones (A synostosis of the first metacarpal and the proximal phalanx of the thumb can also be observed, note that the first metacarpal bone corresponds to a proximal phalanx).|HPO|N|
C4021399|An abnormal union between bones or parts of bones of the fingers. The synonymous term "symphalangism of the hand" may be translated as fusions of bones of varying digree, that involve at least one phalangeal bone of the hand. If bony fusions are referred to as "Symphalangism" the fusion occurs in a proximo-distal axis. Fusions of bones of the fingers in a radio-ulnar axis are referred to as "bony" Syndactyly.|HPO|N|
C4021401|The presence of abnormal punctate (speckled, dot-like) calcifications in one or more of the epiphyses of the thumb.|HPO|N|
C4021402|Abnormally small size of one or more of the epiphyses of the thumb with respect to age-dependent norms.|HPO|N|
C4021403|Sclerosis of one or more of the epiphyses of the thumb, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.|HPO|N|
C4021404|Uneven radiographic opacity of the one or more epiphyses of the thumb.|HPO|N|
C4021405|Epiphysis of the thumb having multiple bony fragments.|HPO|N|
C4021406|Abnormally large size of the epiphyses of the thumb with respect to age-dependent norms.|HPO|N|
C4021407|A cone-shaped appearance of the epiphyses of the thumb, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx.|HPO|N|
C4021408|Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the thumb with respect to age-dependent norms.|HPO|N|
C4021409|A cone-shaped appearance of the epiphysis of the distal phalanx of the thumb of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx.|HPO|N|
C4021410|Abnormality of the epiphysis of the distal phalanx of the thumb. This epiphysis is located on the proximal end of the phalanx.|HPO|N|
C4021411|Hypoplastic (short) thumb phalanx.|HPO|N|
C4021412|Abnormal shape of one or more phalanges of the thumb such that affected phalanges resemble a triangle.|HPO|N|
C4021413|An uneven increase in bone density of one or more of the phalanges of the thumb.|HPO|N|
C4021414|A deviation from the normal straight shape of a thumb phalanx.|HPO|N|
C4021415|An abnormal morphology of one or more phalanges of the thumb, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.|HPO|N|
C4021416|Absence of the distal/terminal phalanx of the thumb.|HPO|N|
C4021417|Dissolution or degeneration of bone tissue of the distal phalanx of the thumb.|HPO|N|
C4021418|Absence of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.|HPO|N|
C4021419|Triangular shaped proximal phalanx of the thumb.|HPO|N|
C4021420|Dissolution or degeneration of bone tissue of the proximal phalanx of the thumb.|HPO|N|
C4021421|An anomaly of the shape or form of the proximal phalanx of the thumb.|HPO|N|
C4021422|Any anomaly of the distal phalanx of thumb.|HPO|N|
C4021423|Partial duplication of the first metacarpal bone.|HPO|N|
C4021424|Complete or partial duplication of the proximal phalanx of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx), a partially fused appearance of the two bones, or two separate bones appearing side to side. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.|HPO|N|
C4021425|Complete or partial duplication of the distal phalanx of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx), a partially fused appearance of the two bones, or two separate bones appearing side to side.|HPO|N|
C4021426|Partail or complete duplication of the first metacarpal bone.|HPO|N|
C4021427|Complete duplication of the distal phalanx of the thumb. On x-ray two separate bones appear side to side.|HPO|N|
C4021428|A structural anomaly of one or more phalanges of the thumb.|HPO|N|
C4021429|Abnormality of one or all of the epiphyses of the proximal, and distal phalanges of the thumb and/or the 1st metacarpal.|HPO|N|
C4021430|Hypoplasia (congenital reduction in size) of the proximal phalanx of the second finger.|HPO|N|
C4021431|Any structural anomaly of the vestibulocochlear nerve. The vestibulocochlear nerve consists of the vestibular and cochlear nerves, also known as cranial nerve eight (CN VIII). Each nerve has distinct nuclei within the brainstem. The vestibular nerve is primarily responsible for maintaining body balance and eye movements, while the cochlear nerve is responsible for hearing.|HPO|N|
C4021432|Triangular shaped proximal phalanx of the 2nd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.|HPO|N|
C4021433|Dissolution or degeneration of bone tissue of the proximal phalanx of the 2nd finger.|HPO|N|
C4021434|Increased width of the proximal phalanx of the 2nd finger.|HPO|N|
C4021435|Hypoplasia (congenital reduction in size) of the middle phalanx of the second finger, also known as the index finger.|HPO|N|
C4021436|Absence of the middle phalanx of the index (2nd) finger.|HPO|N|
C4021437|Dissolution or degeneration of bone tissue of the middle phalanx of the 2nd finger.|HPO|N|
C4021438|Hypoplasia (congenital reduction in size) of the distal phalanx of the second finger.|HPO|N|
C4021440|Fusion of the terminal/distal and middle phalanges of the 2nd finger.|HPO|N|
C4021441|Dissolution or degeneration of bone tissue of the distal phalanx of the 2nd finger.|HPO|N|
C4021442|Uneven (irregular) increase in bone density of one or more of the phalanges of the 2nd finger.|HPO|N|
C4021445|Triangular shaped phalanges of the 2nd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.|HPO|N|
C4021450|Abnormality of the phalanges of the 2nd (index) finger.|HPO|N|
C4021451|Chronic loss of joint motion of the proximal interphalangeal joint of the 2nd finger due to structural changes in non-bony tissue.|HPO|N|
C4021452|Chronic loss of joint motion in the 2nd finger due to structural changes in non-bony tissue. The term camptodactyly of the 2nd finger is used if the distal and/or proximal interphalangeal joints are affected.|HPO|N|
C4021453|Absent 2nd (index) finger.|HPO|N|
C4021457|An abnormality of the proximal phalanx of the second finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.|HPO|N|
C4021460|Sclerosis of the epiphysis of the distal phalanx of the 2nd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.|HPO|N|
C4021461|Absence of the epiphysis located at the proximal end of the distal phalanx of the 2nd finger.|HPO|N|
C4021465|A secondary ossification center in the second finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.|HPO|N|
C4021466|An abnormality of the second finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.|HPO|N|
C4021467|Chronic loss of joint motion of the proximal interphalangeal joint of the 3rd finger due to structural changes in non-bony tissue.|HPO|N|
C4021468|Displacement of the 2nd finger from its normal position.|HPO|N|
C4021469|Hypoplastic/small 3rd (middle) finger.|HPO|N|
C4021470|Hypoplasia (congenital reduction in size) of the proximal phalanx of the third finger.|HPO|N|
C4021471|Uneven (irregular) increase in bone density of one or more of the phalanges of the third finger.|HPO|N|
C4021472|Dissolution or degeneration of bone tissue of the phalanges of the 3rd finger.|HPO|N|
C4021473|Increased width of the phalanges of the 3rd finger.|HPO|N|
C4021474|Hypoplasia (congenital reduction in size) of the middle phalanx of the third finger.|HPO|N|
C4021475|Absence of the middle phalanx of the middle (3rd) finger.|HPO|N|
C4021476|Increased width of the middle phalanx of the 3rd finger.|HPO|N|
C4021477|Fusion of the terminal/distal and middle phalanges of the 3rd finger.|HPO|N|
C4021478|Dissolution or degeneration of bone tissue of the distal phalanx of the 3rd finger.|HPO|N|
C4021479|A triangular appearance of the epiphyses of the 3rd finger of the hand.|HPO|N|
C4021480|A secondary ossification center in the third finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.|HPO|N|
C4021481|Uneven increase in bone density of one or more of the phalanges of the fourth (ring) finger.|HPO|N|
C4021482|A triangular appearance of the epiphyses of the 4th finger of the hand.|HPO|N|
C4021483|A triangular appearance of the epiphyses of the 5th finger of the hand.|HPO|N|
C4021484|Uneven increase in bone density of one or more of the phalanges of the 5th finger.|HPO|N|
C4021487|A triangular appearance of the epiphysis of the proximal phalanx of the 3rd finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat.|HPO|N|
C4021488|Abnormally large size of the epiphysis located at the proximal end of the proximal phalanx of the 3rd finger with respect to age-dependent norms.|HPO|N|
C4021489|A triangular appearance of the epiphysis of the distal phalanx of the 3rd finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat.|HPO|N|
C4021490|A triangular appearance of the epiphysis of the middle phalanx of the 3rd finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat.|HPO|N|
C4021491|A secondary ossification center in the middle phalanx of the third finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.|HPO|N|
C4021492|Chronic loss of joint motion in the 3rd finger due to structural changes in non-bony tissue. The term camptodactyly of the 3rd finger is used if the distal and/or proximal interphalangeal joints are affected.|HPO|N|
C4021493|Displacement of the 3rd finger from its normal position.|HPO|N|
C4021494|Abnormality of the phalanges of the 3rd (middle) finger.|HPO|N|
C4021495|Fusion of the terminal/distal and middle phalanges of the 4th finger.|HPO|N|
C4021496|Hypoplastic/small proximal phalanx of the fourth finger.|HPO|N|
C4021497|Hypoplastic/small middle phalanx of the 4th finger, also known as the ring finger.|HPO|N|
C4021498|Absence of the middle phalanx of the ring (4th) finger.|HPO|N|
C4021499|Hypoplastic/small distal phalanx of the fourth finger.|HPO|N|
C4021502|Hypoplasia (congenital reduction in size) of the fourth finger, also known as the ring finger.|HPO|N|
C4021503|Chronic loss of joint motion of the proximal interphalangeal joint of the 4th finger due to structural changes in non-bony tissue. That is, the PIP joint of a fourth finger is bent (flexed) and cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement.|HPO|N|
C4021504|Chronic loss of joint motion in the 4th finger due to structural changes in non-bony tissue. The term camptodactyly of the 4th finger is used if the distal and/or proximal interphalangeal joints are affected.|HPO|N|
C4021505|A triangular appearance of the epiphysis of the proximal phalanx of the ring finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat.|HPO|N|
C4021506|An abnormality of the proximal phalanx of the fourth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.|HPO|N|
C4021507|A triangular appearance of the epiphysis of the distal phalanx of the ring finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat.|HPO|N|
C4021508|Increased width of the proximal phalanx of the 5th finger.|HPO|N|
C4021509|Hypoplastic/small proximal phalanx of the fifth finger.|HPO|N|
C4021510|A triangular appearance of the epiphysis of the middle phalanx of the ring finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat.|HPO|N|
C4021511|A triangular appearance of the epiphysis of the middle phalanx of the little finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat.|HPO|N|
C4021512|Abnormality of the epiphysis of the distal phalanx of the fifth finger. This epiphysis is located on the proximal end of the phalanx.|HPO|N|
C4021513|Absence of the epiphyses of the metacarpal bones, which are normally located at the distal ends of the metacarpals.|HPO|N|
C4021514|The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the metacarpals.|HPO|N|
C4021515|Displacement of the 5th finger from its normal position.|HPO|N|
C4021516|Abnormality of the phalanges of the 4th (ring) finger.|HPO|N|
C4021517|Increased width of the middle phalanx of the 5th finger.|HPO|N|
C4021518|A triangular appearance of the epiphysis of the proximal phalanx of the little finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat.|HPO|N|
C4021519|A triangular appearance of the epiphysis of the distal phalanx of the little finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat.|HPO|N|
C4021520|Any structural anomaly of a cerebral artery. The cerebral arteries comprise three main pairs of arteries and their branches, which supply the cerebrum of the brain. These are the anterior cerebral artery, the middle cerebral artery, and the posterior cerebral artery.|HPO|N|
C4021522|This term applies to all changes in bone mineral density of the tarsal bones, which (depending on severity) can be seen on x-rays as a change in density and or structure of the bone.|HPO|N|
C4021523|Muscular atrophy involving the muscles of the upper limbs.|HPO|N|
C4021524|An abnormality of adipose tissue, which is loose connective tissue composed of adipocytes.|HPO|N|
C4021525|An abnormality of the formation and mineralization of any bone of the bony pelvis.|HPO|N|
C4021526|Rhabdomyolysis induced by exercise.|HPO|N|
C4021527|Decreased strength of the abdominal musculature.|HPO|N|
C4021528|Atrophy of the muscles of the pelvic girdle (also known as hip girdle), i.e., the gluteal muscles, the lateral rotators, the adductors, the psoas major and the iliacus muscle.|HPO|N|
C4021529|Aplasia or developmental hypoplasia of all or part of the middle ear.|HPO|N|
C4021530|A malformation of the laryngeal cartilage.|HPO|N|
C4021531|Increase in thickness of the wall of the urinary bladder. This finding may be seen in conditions such as bladder outlet obstruction and may be accompanied by increased trabeculation of the bladder wall musculature.|HPO|N|
C4021532|An abnormality of the stapes, a stirrup-shaped ossicle in the middle ear.|HPO|N|
C4021533|A severe form of sensorineural hearing impairment.|HPO|N|
C4021534|The presence of sensorineural deafness with late onset.|HPO|N|
C4021535|A form of sensorineural hearing impairment with infantile onset.|HPO|N|
C4021536|A mild form of conductive hearing impairment.|HPO|N|
C4021537|A type of conductive deafness with congenital onset.|HPO|N|
C4021538|The presence of a mild form of sensorineural hearing impairment.|HPO|N|
C4021539|Permanent indentation on the posteromedial aspect of the helix that may be sharply or indistinctly delineated.|HPO|N|
C4021540|An abnormal reduction of the anterioposterior diameter of the vertebral body.|HPO|N|
C4021541|Anterior tongue-like protrusions of the vertebral bodies of the lumbar spine.|HPO|N|
C4021542|Repeated loss, or shedding, of the nails of the fingers and toes.|HPO|N|
C4021543|Any abnormal process of ossification of the metatarsal bones, which normally are each ossified from two centers|HPO|N|
C4021544|An abnormality of the formation and mineralization of any of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones.|HPO|N|
C4021545|A reduction in immunoglobulin levels of the IgG2 subclass in the blood circulation.|HPO|N|
C4021546|An abnormality of the mitochondria in muscle tissue.|HPO|N|
C4021547|The presence of intracellular inclusion bodies (aggregates of stainable substances, usually proteins) in neutrophils. Cytoplasmic neutrophil inclusions (oval, basophilic) are also known as Doehle bodies.|HPO|N|
C4021548|Adrenal insufficiency secondary to a defect in the ACTH receptor.|HPO|N|
C4021549|Increased levels of thyroxine without evidence of clinical thyroid disease.|HPO|N|
C4021550|An elevated concentration of follicle-stimulating hormone in the blood.|HPO|N|
C4021551|No secondary sexual characteristics are present at puberty.|HPO|N|
C4021552|An increased concentration of ammonia in the blood not associated with symptoms such as encephalopathy.|HPO|N|
C4021553|Episodes of muscle weakness associated with reduced levels of potassium in the blood.|HPO|N|
C4021554|Defective ossification in an irregular pattern of the seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones.|HPO|N|
C4021555|Bending or curvature of a third toe in the tibial direction (i.e., towards the big toe).|HPO|N|
C4021556|Osteolysis affecting the talus.|HPO|N|
C4021559|Retinitis pigmentosa inversa is form of retinal degeneration characterized by areas of retinal/chorioretinal degeneration with pigment migration in the macular area (in contrast to retinitis pigmentosa which, at early disease stages, predominantly affects the retinal periphery).|HPO|N|
C4021560|A type of sutural cataract in which the opacity follows the posterior Y suture.|HPO|N|
C4021561|A dark-adapted bright flash electroretinogram in which the b-wave that is of markedly lower amplitude than the associated a-wave (source|HPO|N|
C4021563|Failure of attachment of the retina during development.|HPO|N|
C4021564|Underdevelopment of the lacrimal puncta.|HPO|N|
C4021565|Punctate opacification (reduced transparency) of the corneal stroma.|HPO|N|
C4021566|A kind of cataract that progresses with age.|HPO|N|
C4021567|The presence of distinct colors in the central (pupillary) zone of the iris than in the mid-peripheral (ciliary) zone.|HPO|N|
C4021568|A type of cataract characterized by punctate, dust-like opacities within the cortical region of the lens.|HPO|N|
C4021569|The presence of an increased number of twists and turns of retinal blood vessels (arteries, arterioles, veins, venules).|HPO|N|
C4021570|Absence of the combined rod-and-cone response on electroretinogram.|HPO|N|
C4021571|An abnormality of the vestibulo-ocular reflex (VOR). The VOR attempts to keep the image stable on the retina. Ideally passive or active head movements in one direction are compensated for by eye movements of equal magnitude.|HPO|N|
C4021574|The presence of fewer than normal sweat glands.|HPO|N|
C4021576|A type of ichthyosiform erythroderma with postnatal onset.|HPO|N|
C4021577|An abnormality of somatosensory evoked potentials (SSEP), i.e., of the electrical signals of sensation going from the body to the brain in response to a defined stimulus. Recording electrodes are placed over the scalp, spine, and peripheral nerves proximal to the stimulation site. Clinical studies generally use electrical stimulation of peripheral nerves to elicit potentials. SSEP testing determines whether peripheral sensory nerves are able to transmit sensory information like pain, temperature, and touch to the brain. Abnormal SSEPs can result from dysfunction at the level of the peripheral nerve, plexus, spinal root, spinal cord, brain stem, thalamocortical projections, or primary somatosensory cortex.|HPO|N|
C4021578|An abnormality characterized by chronic impairment of the normal functioning of the axons.|HPO|N|
C4021580|A progressive degree of muscular rigidity (continuous contraction of muscles with constant resistance to passive movement).|HPO|N|
C4021581|Muscular atrophy of distal arm muscles.|HPO|N|
C4021582|Peripheral sensory neuropathy affecting primarily distal sensation.|HPO|N|
C4021583|A reduced sense of touch (tactile sensation) on the skin of the distal limbs. This is usually tested with a wisp of cotton or a fine camel's hair brush, by asking patients to say 'now' each time they feel the stimulus.|HPO|N|
C4021584|Atrophy (wasting, decrease in size of cells or tissue) affecting the frontotemporal cerebrum.|HPO|N|
C4021585|A loss or impairment of the sensation of the relative position of parts of the body and joint position occuring at distal joints.|HPO|N|
C4021587|Chest wall pain in the area of the costochondral junctions.|HPO|N|
C4021588|Abnormal increase in density of the tissue at the costochondral junctions.|HPO|N|
C4021589|Lack of development of the glenoid fossa, also known as the glenoid cavity, which is the articular surface of the scapula that articulates with the head of the humerus.|HPO|N|
C4021590|Prematurely closed sternal sutures.|HPO|N|
C4021591|The presence of reduced numbers of intrahepatic bile duct than normal.|HPO|N|
C4021593|An anomaly of one or more epiphyses of a limb.|HPO|N|
C4021595|An anomaly of one or more epiphyses of one or both legs.|HPO|N|
C4021596|Any abnormality of the primary tooth.|HPO|N|
C4021597|Formation of bone in the patella later than normal.|HPO|N|
C4021598|A bending or abnormal curvature of the distal portion of the tibia.|HPO|N|
C4021599|An abnormal flattening of the distal epiphysis of femur.|HPO|N|
C4021600|The presence of abnormal punctate (speckled, dot-like) calcifications in the distal epiphysis of the ulna.|HPO|N|
C4021601|Premature tooth eruption of the permanent dentition.|HPO|N|
C4021602|A type of dental misalignment with crowded central incisors, i.e., of maxillary secondary incisor, or of maxillary central primary incisor.|HPO|N|
C4021603|Increased space between the primary teeth. Note this phenotype should be distinguished from increased space due purely to microdontia.|HPO|N|
C4021605|Abnormal shortening of all middle phalanges of toes.|HPO|N|
C4021606|The presence of a supernumerary finger (not a thumb) involving the third or fourth metacarpal with associated osseous syndactyly.|HPO|N|
C4021607|The term proximal symphalangism refers to a bony fusion of the middle and proximal phalanges of the digits of the hand, in other words the proximal interphalangeal joint (PIJ) is missing which can be seen either on x-rays or as an absence of the proximal interphalangeal finger creases.|HPO|N|
C4021608|Hypoplasia of all of the distal phalanx of finger.|HPO|N|
C4021609|Delay in the process of formation and maturation of the epiphysis of one or more phalanx.|HPO|N|
C4021610|Bilateral lack of development of the lungs.|HPO|N|
C4021611|An anomaly of epiphysis, which is the expanded articular end of a long bone that developes from a secondary ossification center, and which during the period of growth is either entirely cartilaginous or is separated from the shaft by a cartilaginous disk.|HPO|N|
C4021612|Absence (due to failure to form) or underdevelopment of the bones of the hand.|HPO|N|
C4021613|Abnormality of one or all of the epiphyses of the phalanges of the hand. Note that this includes the epiphysis of the 1st metacarpal. In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5 (whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits).|HPO|N|
C4021614|Abnormalities affecting the phalanx of finger.|HPO|N|
C4021615|Any abnormal shape or structure of the metacarpal bones.|HPO|N|
C4021616|Rhomboid or triangular shaped 5th (little) finger middle phalanx.|HPO|N|
C4021617|An abnormally reduced degree of pneumatization (i.e., formation of air cells) in the mastoid process with respect to age-dependent norms.|HPO|N|
C4021618|Combined syndactyly and polydactyly of the great toe.|HPO|N|
C4021619|A dislocation of the head of the radius from its socket in the elbow joint in an ulnar direction.|HPO|N|
C4021620|Bending or curvature of a second toe in the tibial direction (i.e., towards the big toe).|HPO|N|
C4021621|Absence of the distal interphalangeal flexion creases of the fourth finger.|HPO|N|
C4021622|A soft tissue continuity in the anteroposterior axis between the toes 2, 3, and 4.|HPO|N|
C4021623|The presence of abnormal punctate (speckled, dot-like) calcifications in one or more epiphyses during the neonatal period.|HPO|N|
C4021624|An increase in bone density affecting the basicranium (base of the skull).|HPO|N|
C4021625|An abnormal narrowing of the spinal canal related to a reduction in the interpedicular distance (i.e., the distance measured between the pedicles on frontal [coronal] imaging).|HPO|N|
C4021627|A bilateral form of triphalangeal thumb.|HPO|N|
C4021628|Underdevelopment (hypoplasia) of the third toe.|HPO|N|
C4021629|Acalvaria is an extremely rare congenital malformation characterized by an absence of flat bones of skull, dura mater, and associated muscles in the presence of normal cranial contents and facial bones.|HPO|N|
C4021630|Increased cross-section (diameter) of the long bones. Note that widening may primarily affect specific regions of long bones (e.g., diaphysis or metaphysis), but this should be coded separately.|HPO|N|
C4021632|Telangiectases (small dilated blood vessels) located near the surface of the skin in a butterfly midface distribution.|HPO|N|
C4021633|A focal type of palmoplantar keratoderma in which only certain areas of the palms and soles are affected.|HPO|N|
C4021634|An anomaly of the form or number of cells in the bone marrow.|HPO|N|
C4021635|A form of poikilocytosis in which the abnormally shaped erythrocytes have notches that results in projections that look like horns.|HPO|N|
C4021636|Concentration of the complement component factor B in the blood circulation below the lower limit of normal.|HPO|N|
C4021637|Abnormality of the nostril.|HPO|N|
C4021638|Lack of the cartilage of the nasal septum.|HPO|N|
C4021639|Aplasia (congenital absence) of the pectoralis minor on only one side of the chest.|HPO|N|
C4021640|Developmental hypoplasia of the intestine.|HPO|N|
C4021641|Absence of gastric intrinsic factor, which is normally produced by the parietal cells of the stomach, and is required for the absorption of vitamin B12.|HPO|N|
C4021642|An abnormality of the Achilles tendon.|HPO|N|
C4021643|An impairment of galactose metabolism.|HPO|N|
C4021644|Recurrent episodes of decreased concentration of glucose in the blood occurring during the infantile period.|HPO|N|
C4021646|Bleeding that persists longer than the normal time following a surgical procedure.|HPO|N|
C4021647|An abnormal increase in the binding affinity of hemoglobin for oxygen.|HPO|N|
C4021648|A kind of hemolytic anemia that is induced by the ingestion of fava beans.|HPO|N|
C4021649|Short (hypoplastic) fifth metatarsal bone.|HPO|N|
C4021650|Underdevelopment of the Third metatarsal bone leading to a short (hypoplastic) third metatarsal bone.|HPO|N|
C4021651|Underdevelopment of the nasal bone.|HPO|N|
C4021652|An abnormality of the shape of the thoracic vertebra T11 such that it is wedge-shaped (narrow towards the front).|HPO|N|
C4021653|Reduced or lacking hair growth in a generalized distribution.|HPO|N|
C4021655|An anomaly in the ability to perceive and distinguish scents (odors).|HPO|N|
C4021656|A deviation from the normal concentration of a fatty acid in the blood circulation.|HPO|N|
C4021657|This term applies to all changes in bone mineral density which (depending on severity) can be seen on x-rays as a change in density and or structure of the bone. Changes may affect all bones of the organism, just certain bones or only parts of bones and include decreased mineralisation as may be seen in osteoporosis or increased mineralisation and or ossification as in osteopetrosis, exostoses or any kind of atopic calicfications of different origin and distribution. The overall amount of mineralization of the bone-organ can be measured as the amount of matter per cubic centimeter of bones, usually measured by densitometry of the lumbar spine or hip. The measurements are usually reported as g/cm3 or as a Z-score (the number of standard deviations above or below the mean for the patient's age and sex). Note that measurement with this method does not reflect local changes in other bones, and as such might not be correct with regard the hole bone-organ.|HPO|N|
C4021660|Any deviation from the normal concentration of a sulfur amino acid in the blood circulation.|HPO|N|
C4021661|An abnormality of macrophages.|HPO|N|
C4021662|An abnormality of the endocardium.|HPO|N|
C4021663|Any abnormality of the skeletal muscle cell. Muscle fibers are subdivided into two types. Type I fibers are fatigue-resistant and rich in oxidative enzymes (they stain light with the myosin ATPase reaction), and type II fibers are fast-contracting, fatigue-prone, and rich in glycolytic enzymes (these fibers stain darkly). Normal muscle tissue has a random distribution of type I and type II fibers.|HPO|N|
C4021664|The presence of any abnormality affecting the abdominal wall.|HPO|N|
C4021665|Fusion of the second metacarpal-trapezoid.|HPO|N|
C4021668|Formation of bone tissue of trapezoid is less than expected for age.|HPO|N|
C4021669|Formation of bone tissue of trapezium is less than expected for age.|HPO|N|
C4021670|Formation of bone tissue of scaphoid is less than expected for age.|HPO|N|
C4021671|Increased size of carpal bones.|HPO|N|
C4021672|Curved appearance of the distal phalanx of the 5th (little) finger.|HPO|N|
C4021673|Abnormality of the distal phalanx of the 5th (little) finger.|HPO|N|
C4021674|Sclerosis of the epiphysis of the distal phalanx of the little finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.|HPO|N|
C4021675|A cone-shaped appearance of the epiphysis of the distal phalanx of the little finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx.|HPO|N|
C4021676|Fusion of two or more bones of the 5th finger.|HPO|N|
C4021677|Dissolution or degeneration of bone tissue of the phalanges of the 5th finger.|HPO|N|
C4021678|An abnormality affecting one or both 5th fingers.|HPO|N|
C4021679|Fusion of two or more bones of the 4th finger.|HPO|N|
C4021681|Hypoplasia (congenital reduction in size) of the distal phalanx of the third finger.|HPO|N|
C4021682|An anomaly of the third finger.|HPO|N|
C4021683|An anomaly of the second finger, also known as the index finger.|HPO|N|
C4021684|Osteosclerosis affecting one or more bones of the hand.|HPO|N|
C4021685|Pattern of hand-wrist development does not fit the normal sequence of ossification of the individual bones of the hand.|HPO|N|
C4021686|Ossification of hand bones is less advanced than would be expected according to age-adjusted norms.|HPO|N|
C4021687|Increase in width (breadth) of the ulnar metaphysis.|HPO|N|
C4021688|Irregularity of the normally smooth surface of the metaphysis of the ulna.|HPO|N|
C4021690|Increase in width of the diaphysis of radius.|HPO|N|
C4021691|Increase in width (breadth) of the radial metaphysis.|HPO|N|
C4021692|Irregularity of the normally smooth surface of the metaphysis of the radius.|HPO|N|
C4021693|Abnormal increase in width of the epiphyseal growth plate of the radius.|HPO|N|
C4021697|Osteosclerosis (increased density related to increased bone mass) of the ulna.|HPO|N|
C4021698|Increased width of the radius.|HPO|N|
C4021700|Abnormally wide bone of the skeleton of forearm.|HPO|N|
C4021701|Absence of one or more forearm bones associated with congenital failure of development.|HPO|N|
C4021703|Irregularity of the normally smooth surface of the metaphysis at the distal end of the humerus (at the elbow).|HPO|N|
C4021704|Increased width of the humeral diaphysis.|HPO|N|
C4021708|Increased width of the humeral epiphyseal growth plate.|HPO|N|
C4021710|Increased width of the humeral epiphysis.|HPO|N|
C4021711|The presence of abnormal punctate (speckled, dot-like) calcifications in the humeral epiphysis.|HPO|N|
C4021712|A delay in the process of formation and maturation of the humeral epiphysis.|HPO|N|
C4021713|Lack of formation of bone in the epiphysis of the humerus.|HPO|N|
C4021714|An anomaly of the humeral epiphysis.|HPO|N|
C4021719|Increased width (breadth) of metaphyses of the arms.|HPO|N|
C4021721|The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones of the arm.|HPO|N|
C4021723|Developmental hypoplasia (shortening) of middle phalanx of toe.|HPO|N|
C4021724|An abnormally reduced activity of the enzyme cytochrome C oxidase in muscle tissue.|HPO|N|
C4021725|An abnormality of glycoprotein metabolism related to a decreased level of alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity.|HPO|N|
C4021726|The presence of abnormal electromyographic patterns indicative of myopathy, such as small-short polyphasic motor unit potentials.|HPO|N|
C4021727|The presence of characteristic findings of denervation on electromyography (fibrillations, positive sharp waves, and giant motor unit potentials).|HPO|N|
C4021728|A compound muscle action potential (CMAP) is a type of electromyography (EMG). CMAP refers to a group of almost simultaneous action potentials from several muscle fibers in the same area evoked by stimulation of the supplying motor nerve and are recorded as one multipeaked summated action potential. This abnormality refers to a greater than normal decrease in the amplitude during the course of the investigation.|HPO|N|
C4021729|An increase in the amount of very-low-density lipoprotein cholesterol in the blood.|HPO|N|
C4021730|The formation of bullae (blisters) with cleavage in the lamina lucida layer of the skin.|HPO|N|
C4021731|A type of megaloblastic anemia that improves upon administration of pyrimidine supplements such as uridylic acid and cytidylic acid.|HPO|N|
C4021732|The prothrombin consumption test measures the formation of intrinsic thromboplastin by determining the residual serum prothrombin after blood clotting is complete. If there is a defect in the process, less prothrombin will be converted to thrombin than normal (less prothrombin is consumed). This test may be abnormal with conditions including deficiency of factors VIII or IX, with circulating anticoagulants, thrombocytopenia.|HPO|N|
C4021733|An increased concentration of lysine in the urine.|HPO|N|
C4021734|A functional anomaly of mitochondria.|HPO|N|
C4021735|An abnormality of the hip bone.|HPO|N|
C4021736|The concentration of methylcobalamin in the blood circulation is below the lower limit of normal. Methylcobalamin is a form of vitamin B12.|HPO|N|
C4021737|Increased amount of chromosomal breaks in cultured blood lymphocytes or other cells induced by treatment with DNA cross-linking agents such as diepoxybutane and mitomycin C.|HPO|N|
C4021738|An anomaly of the the pubic bone, i.e., of the ventral and anterior of the three principal components (pubis, ilium, ischium) of the hip bone.|HPO|N|
C4021739|An abnormality of the acetabulum, i.e., the Acetabular part of hip bone, which together with the head of the femur forms the hip joint.|HPO|N|
C4021740|An abnormal increased in the concentration of corticotropin, also known as adrenocorticotropic hormone (ACTH), in the blood.|HPO|N|
C4021741|An abnormality of compact bone (also known as cortical bone), which forms the dense surface of bones.|HPO|N|
C4021742|An abnormality of the humerus (i.e., upper arm bone).|HPO|N|
C4021743|Abnormality of the patella (knee cap).|HPO|N|
C4021744|Abnormality of the wrist, the structure connecting the hand and the forearm.|HPO|N|
C4021745|Abnormality originating in one or more muscles, i.e., of the set of muscles of body.|HPO|N|
C4021746|An abnormality of the ilium, the largest and uppermost bone of the pelvis.|HPO|N|
C4021747|The presence of normal overall immunoglobulin levels with deficiency of specific immunoglobulins directed against bacterial polysaccharides.|HPO|N|
C4021748|A structural abnormality of B cells.|HPO|N|
C4021749|Disseminated multifocal hemangiomatous or lymphangiomatous lesions of the skeleton. The lesions are lytic, well-defined, round or oval lesions within the medullary cavity, and they have an intact cortex, and manifest variable peripheral sclerosis and may exhibit endosteal scalloping.|HPO|N|
C4021750|Any anomaly of the structure of the femur.|HPO|N|
C4021751|Increased susceptibility to Klebsiella infections, as manifested by recurrent episodes of Klebsiella infection.|HPO|N|
C4021752|An increased susceptibility to Aspergillus infections, as manifested by a history of recurrent episodes of Aspergillus infections.|HPO|N|
C4021753|An abnormality of the immune system.|HPO|N|
C4021754|Abnormality of the sella turcica, a saddle-shaped depression in the sphenoid bone at the base of the human skull.|HPO|N|
C4021755|An abnormality of the midbrain, which has as its parts the tectum, cerebral peduncle, midbrain tegmentum and cerebral aqueduct.|HPO|N|
C4021756|Increased width of the superior cerebellar peduncle.|HPO|N|
C4021757|The presence of complexes of repetitive spikes and waves in EEG.|HPO|N|
C4021758|Delayed myelination in the central nervous system.|HPO|N|
C4021759|A generalized myoclonic seizure is a type of generalized motor seizure characterized by bilateral, sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus.|HPO|N|
C4021760|Any structural anomaly of the lung.|HPO|N|
C4021761|Any structural abnormality of the pyramidal tract, whose chief element, the corticospinal tract, is the only direct connection between the brain and the spinal cord. In addition to the corticospinal tract, the pyramidal system includes the corticobulbar, corticomesencephalic, and corticopontine tracts.|HPO|N|
C4021762|Any structural abnormality of the telencephalon, which is also known as the cerebrum.|HPO|N|
C4021763|An abnormality of the glabella.|HPO|N|
C4021764|An abnormality of the viscera of the abdomen.|HPO|N|
C4021765|A structural abnormality of the central nervous system.|HPO|N|
C4021766|A reduction in the expression of CD43 on the cell surface of lymphocytes.|HPO|N|
C4021767|Decreased cell membrane concentration of glycoprotein IIb-IIIa.|HPO|N|
C4021769|Underdevelopment (hypoplasia) of the second toe.|HPO|N|
C4021770|Bending or curvature of a toe in the tibial direction (i.e., towards the big toe).|HPO|N|
C4021771|Short distance from the end of the toe to the most distal interphalangeal crease or distal interphalangeal joint flexion point, i.e., abnormally short distal phalanx of toe.|HPO|N|
C4021773|This term applies for all abnormalities of the big toe, also called hallux.|HPO|N|
C4021774|Camptodactyly is a painless flexion contracture of the proximal interphalangeal (PIP) joint that is usually gradually progressive. This term refers to camptodactyly of one or more toes.|HPO|N|
C4021775|A form of sensorineural hearing impairment that affects primarily the higher frequencies.|HPO|N|
C4021777|An abnormality of the larynx.|HPO|N|
C4021780|An abnormality of the liver.|HPO|N|
C4021781|An abnormality of the function of the electrical signals with which nerve cells communicate with each other or with muscles as measured by electrophysiological investigations.|HPO|N|
C4021782|An abnormality of the fingernails.|HPO|N|
C4021783|An abnormality of the thenar eminence, i.e., of the muscle on the palm of the human hand just beneath the thumb.|HPO|N|
C4021784|Chronic loss of joint motion in an interphalangeal joint of a finger due to structural changes in non-bony tissue.|HPO|N|
C4021786|Atypically scarred skin .|HPO|N|
C4021787|An abnormality of the structure or form of the diaphysis, i.e., of the main or mid-section (shaft) of a long bone.|HPO|N|
C4021789|Any abnormality of the vertebral column.|HPO|N|
C4021790|An abnormality of the skeletal system.|HPO|N|
C4021791|Any anomaly of the costochondral junction. The costochondral junctions are located between the distal part of the ribs and the costal cartilages, which are bars of hyaline cartilage that connect the ribs to the sternum.|HPO|N|
C4021792|Any abnormality of the clavicles (collar bones).|HPO|N|
C4021793|An abnormality of the renin-angiotensin system.|HPO|N|
C4021794|Abnormality of the adrenal glands, i.e., of the endocrine glands located at the top of the kindneys.|HPO|N|
C4021795|An abnormality of the tricarboxylic acid cycle.|HPO|N|
C4021796|Abnormal fat accumulation in the kidneys.|HPO|N|
C4021797|Any abnormality of the thorax (the region of the body formed by the sternum, the thoracic vertebrae and the ribs).|HPO|N|
C4021798|Abnormalities in eye contact, communicative facial expressions, gesture use, or the use of others' bodies to communicate convey shared meanings within a culture that replace or supplement verbal communication.|HPO|N|
C4021799|Behavior characterized by an abnormal limitation to a few interests and activities.|HPO|N|
C4021800|An abnormality of the dental enamel.|HPO|N|
C4021801|Abnormality of tear production.|HPO|N|
C4021803|An abnormality of the eyelids.|HPO|N|
C4021804|An abnormality of the Ala of nose.|HPO|N|
C4021805|Abnormality of the nasal bridge, which is the saddle-shaped area that includes the nasal root and the lateral aspects of the nose. It lies between the glabella and the inferior boundary of the nasal bone, and extends laterally to the inner canthi.|HPO|N|
C4021806|A form of sensorineural deafness with either congenital onset or infantile onset, i.e., before the acquisition of speech.|HPO|N|
C4021807|Any structural abnormality of the external acoustic tube (also known as the auditory canal).|HPO|N|
C4021808|An abnormality of the lobule of pinna.|HPO|N|
C4021809|An abnormality of the inner ear.|HPO|N|
C4021810|Abnormal location of the ear.|HPO|N|
C4021811|An anomaly of the midface, which is a region and not an anatomical term. It extends, superiorly, from the inferior orbital margin to, inferiorly, the level of nasal base. It is formed by the maxilla (upper jaw) and zygoma and cheeks and malar region. Traditionally, the nose and premaxilla are not included in the midface.|HPO|N|
C4021812|An abnormality of the head.|HPO|N|
C4021814|Extra fold of tissue extending from the alveolar ridge to the inner surface of the upper or lower lip.|HPO|N|
C4021815|Any abnormality of the palate, i.e., of roof of the mouth.|HPO|N|
C4021816|Any abnormality of the gingiva (also known as gums).|HPO|N|
C4021817|An abnormality of head and neck.|HPO|N|
C4021818|An abnormality of the ovary.|HPO|N|
C4021819|A phenotypic abnormality.|HPO|N|
C4021820|An abnormal functionality of the genital system.|HPO|N|
C4021821|An abnormality of the urinary system.|HPO|N|
C4021822|Any structural abnormality of the female external genitalia.|HPO|N|
C4021823|Ambiguous genitalia in an individual with XY genetic gender.|HPO|N|
C4021824|Combined syndactyly and polydactyly of the foot on the lateral side (i.e., on the side of the little toe).|HPO|N|
C4021826|An abnormality of the renal tubules.|HPO|N|
C4021827|Craniosynostosis of all calvarial sutures.|HPO|N|
C4021828|An abnormally advanced degree of pneumatization (i.e., formation of air cells) in the mastoid process with respect to age-dependent norms.|HPO|N|
C4021829|Decreased width of nail.|HPO|N|
C4021832|An abnormality of the calf, i.e. of the posterior part of the lower leg.|HPO|N|
C4021833|Increased concentration of uracil in the urine.|HPO|N|
C4021834|Any abnormality of the parietal bone of the skull.|HPO|N|
C4021835|Presence of a lipoma in the region of the sacrum.|HPO|N|
C4021838|Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the fibula, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone.|HPO|N|
C4021839|A deviation from the normal contents of the platelet alpha granules, which normally contain adenosine triphosphate (ATP), adenosine diphosphate (ADP), serotonin, calcium, and pyrophosphate, which are secreted when platelets are activated.|HPO|N|
C4021840|An anomaly of the invaginations of the surface membrane that form the open canalicular system (OCS). The OCS serve as the pathway for transport of substances into the cells and as conduits for the discharge of alpha granule products secreted during the platelet release reaction.|HPO|N|
C4021843|An elevated concentration of free 3,3',5-triiodo-L-thyronine in the blood circulation.|HPO|N|
C4021844|Absence or underdevelopment of the cerebral white matter.|HPO|N|
C4021845|Oral-motor apraxia is the inability to volitionally sequence oral movements of the speech structure for nonspeech tasks in the absence of neuromuscular deficits such as paralysis or muscle weakness. Oral-motor apraxia is diagnosed when, despite intact sensory motor function an individual is unable to use these effector systems under voluntary control.|HPO|N|
C4021846|An abnormality of the function of the middle ear.|HPO|N|
C4021847|Abnormal morphology of collagen fibers in cartilage. In cartilage, collagen II, actually a collagen II:IX:XI heterofibril, is by far the most important type of collagen. A number of abnormalities may be appreciated by electron micrography or biochemical investigations, including sparse collagen fibers in the cartilage matrix.|HPO|N|
C4021848|An abnormality of the process of DNA repair, that is, of the process of restoring DNA after damage.|HPO|N|
C4021849|A hamartoma (disordered proliferation of mature tissues) of the conjunctiva.|HPO|N|
C4021850|An abnormally increased sensitivity to the effects of ionizing radiation.|HPO|N|
C4021851|Reduction in diameter of the humerus.|HPO|N|
C4021853|The presence of developmental dysplasia of the vertebral column.|HPO|N|
C4021856|An abnormality of the line of Schwalbe.|HPO|N|
C4021859|A deviation from the normal count of CD4-positive, CD25-positive, alpha-beta regulatory T cells.|HPO|N|
C4021861|Abnormality of the midnasal cavity which includes the cavity between the nares and the choanae.|HPO|N|
C4021864|An abnormal increase in the length of the tibia.|HPO|N|
C4021865|Increased length of the distal phalanx of finger.|HPO|N|
C4021867|Lack of formation of the palatine bone.|HPO|N|
C4021868|An abnormality of the palpebral conjunctiva.|HPO|N|
C4021869|An abnormality of the ethmoid bone|HPO|N|
C4021871|An abnormality of the palatine bone.|HPO|N|
C4021873|An abnormality of the frontal bone.|HPO|N|
C4021874|Absence of a localized portion of the ear that cannot be described by a more precise term (e.g., absent ear lobe).|HPO|N|
C4021875|Increased vertical distance from the vermillion border of the lower lip to the inferior-most point of the chin.|HPO|N|
C4021885|Any complex of structural, architectural, contractile or electrophysiological changes affecting the atria with the potential to produce clinically relevant manifestations.|HPO|N|
C4021898|Increased muscle tone observed in the arms of the affected person.|HPO|N|
C4021899|The presence of premature sister chromatid segregation.|HPO|N|
C4021901|A tumor (abnormal growth of tissue) of adipose tissue.|HPO|N|
C4021904|An abnormal size of the palpebral fissures for example unusually long or short palpebral fissures.|HPO|N|
C4021905|The presence of an abnormal shape of the palpebral fissure.|HPO|N|
C4021906|Flaring (widening) of the epiphysis.|HPO|N|
C4021907|A type of dysharmonic skeletal maturation in which there is an acceleration in skeletal maturation whose degree differs markedly in different bones.|HPO|N|
C4021908|Increase in size of the hippocampus.|HPO|N|
C4021909|Abnormal difference in size between the left and right lateral cerebral ventricles.|HPO|N|
C4021910|Decreased width of the foramen obturatorium. The foramen obturatorium (also known as the obturator foramen) is a hole located between the ischium and pubis bones of the pelvis.|HPO|N|
C4021911|Any structural abnormality of the medulla of the kidney.|HPO|N|
C4021918|An elevation in bone density in the distal phalanx of the third toe. Sclerosis is normally detected on a radiograph as an area of increased opacity.|HPO|N|
C4021922|An elevation in bone density in the middle phalanx of the third toe. Sclerosis is normally detected on a radiograph as an area of increased opacity.|HPO|N|
C4021926|An elevation in bone density in the proximal phalanx of the third toe. Sclerosis is normally detected on a radiograph as an area of increased opacity.|HPO|N|
C4021927|An elevation in bone density in the proximal phalanx of the second toe. Sclerosis is normally detected on a radiograph as an area of increased opacity.|HPO|N|
C4021929|An elevation of bone density in the proximal phalanx of the thumb.|HPO|N|
C4021930|An elevation of bone density in the distal phalanx of the thumb.|HPO|N|
C4021943|An abnormality of the xiphoid process of the sternum.|HPO|N|
C4021945|An abnormality in the size of the ocular globe (eyeball).|HPO|N|
C4021946|An abnormality in the placement of the ocular globe (eyeball).|HPO|N|
C4021947|Increased length and width of one half of the tounge.|HPO|N|
C4021948|An abnormality of the palm, that is, of the front of the hand.|HPO|N|
C4021952|An abnormally flat sella turcica.|HPO|N|
C4021953|Decreased ossification of the vertebral bodies.|HPO|N|
C4021954|Hypoplasia of the triceps muscle.|HPO|N|
C4021955|Absence of the musculature.|HPO|N|
C4021956|Absence or underdevelopment of the eyebrow.|HPO|N|
C4021957|An increased susceptibility to cutaneous abscess formation, as manifested by a medical history of recurrent cutaneous abscesses.|HPO|N|
C4021958|Vitamin K is a fat-soluble vitamin with a role in promoting the coagulation cascade.|HPO|N|
C4021960|An abnormal increase in the total number of T cells detected in the blood.|HPO|N|
C4021961|A tumor (abnormal growth of tissue) of the nail.|HPO|N|
C4021964|Congenital absence or underdevelopment of the colon.|HPO|N|
C4021966|An abnormality of the region around the nails of the fingers or toes.|HPO|N|
C4021967|Aplasia of the pancreas.|HPO|N|
C4021968|A congenital underdevelopment (aplasia or hypoplasia) of the pancreas.|HPO|N|
C4021969|The absence of the normal curvature of the vertebral column.|HPO|N|
C4021970|Lack of separation of the upper and lower lips.|HPO|N|
C4021972|A rare birth defect in women where the urethra and vagina both open into a common channel.|HPO|N|
C4021974|A structural anomaly of the vessel that contains or conveys lymph fluid.|HPO|N|
C4021975|An abnormality of the tonsils.|HPO|N|
C4021976|An anomaly of the lymphatic system, a network of lymphatic vessels that carry a clear fluid called lymph unidirectionally towards either the right lymphatic duct or the thoracic duct, which in turn drain into the right and left subclavian veins respectively.|HPO|N|
C4021980|An anomaly of the joint between the trochlear notch of ulna and the trochlea of humerus, which is part of the elbow joint.|HPO|N|
C4021982|Abnormal eating habits involve excessive or insufficient consumption of food, or any other abnormal pattern of food consumption.|HPO|N|
C4021984|An abnormality of the soft palate.|HPO|N|
C4021987|Any structural anomaly of the cementum, which is the mineralized connective tissue covering the dental root. The cementum allows anchoring of the fibers of the periodontal ligament. Cementum is secreted by cementoblasts, which may be, later on, embedded in the cementum. Cementum can be acellular (along the two third coronal portion of the root) and cellular (in the apical and interradicular part of the root).|HPO|N|
C4021988|Any structural abnormality of the lumbar vertebral column.|HPO|N|
C4021989|An abnormality of the thoracic vertebral column.|HPO|N|
C4021990|An abnormality of the microglial cells. They are also known as brain-resident macrophages or Hortega cells.|HPO|N|
C4021991|An abnormality of astrocytes.|HPO|N|
C4021992|One of the three types of glia cells that, with the nerve cells, compose the central nervous system and are characterized by sheetlike processes that wrap around individual axons to form the myelin sheath of nerve fibers.|HPO|N|
C4021993|An abnormality of the glia cell.|HPO|N|
C4021994|An abnormality of the pia mater.|HPO|N|
C4021997|An abnormality of Sharpey's fibers (bone fibers, or perforating fibers), which are a matrix of connective tissue consisting of bundles of strong collagenous fibers connecting periosteum to bone.|HPO|N|
C4022001|An anomaly of the cerebral blood vessels.|HPO|N|
C4022002|Failure to close of the chest and abdominal wall likely caused by the failure of the ventral wall to close during week 4 of development.|HPO|N|
C4022004|A rare paranglioma of the lung, tumors that arise from extra-adrenal chromaffin cells.|HPO|N|
C4022005|A paraganglioma (a neuroendocrine neoplasm) originating in a carotid artery.|HPO|N|
C4022007|A congenital malformation with a cleft (gap or opening) in the midline of the face.|HPO|N|
C4022009|A structural anomaly of the corpus cavernosum, the erectile tissue of the penis.|HPO|N|
C4022010|A seizure during pregnancy.|HPO|N|
C4022011|The presence of a neoplasm of the testis with origin in a Leydig cell.|HPO|N|
C4022012|Death between the age of 16 and 40 years.|HPO|N|
C4022013|The presence of many cysts in the glomerulus of the kidney related to dilatation of the Bowman's capsule.|HPO|N|
C4022014|A medical history of exposure during the fetal period to hyperphenylalaninemia because the mother had phenylketonuria with inadequate control during pregnancy.|HPO|N|
C4022015|The presence of calcium deposition in cartilage.|HPO|N|
C4022016|An abnormality of the retractable fold of skin that covers the tip of the penis.|HPO|N|
C4022018|Presence of small, permanently dilated blood vessels near the surface of the skin, visible as small focal red lesions.|HPO|N|
C4022020|Telangiectasia of the mucosa, the mucous membranes which are involved in absorption and secretion that line cavities that are exposed to the external environment and internal organs.|HPO|N|
C4022022|Triplication of the spinal cord - extremely rare.|HPO|N|
C4022023|Coexistence of two hemicords, at variable levels, causing splaying of the posterior vertebral elements. Results in neurological deficits in lower limb or perineum.|HPO|N|
C4022024|Difference in length or size between the right and left arm.|HPO|N|
C4022025|A growth pattern that displays an abnormal difference between the left and the right side.|HPO|N|
C4022027|An anomaly of the supraorbital portion of the frontal bones.|HPO|N|
C4022028|An abnormality of fascia.|HPO|N|
C4022030|The appearance of abnormal valgus deformity in one knee in association with varus deformity in the other.|HPO|N|
C4022032|An abnormality of phosphate homeostasis or concentration in the body.|HPO|N|
C4022036|An anomaly in the metabolism of a vitamin.|HPO|N|
C4022037|The concentration of vitamin B8 in the blood circulation is below the lower limit of normal.|HPO|N|
C4022038|The concentration of vitamin B5 in the blood circulation is below the lower limit of normal.|HPO|N|
C4022041|A decreased concentration of ammonia in the blood.|HPO|N|
C4022058|Patchy (irregular) increase in bone density of the distal phalanx of the fifth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays.|HPO|N|
C4022059|Uneven increase in bone density of the distal phalanx of the fourth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays.|HPO|N|
C4022061|Uneven increase in bone density of the proximal phalanx of the fifth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays.|HPO|N|
C4022062|Uneven increase in bone density of the proximal phalanx of the fourth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays.|HPO|N|
C4022064|Uneven increase in bone density of the middle phalanx of the fifth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays.|HPO|N|
C4022065|Uneven increase in bone density of the middle phalanx of the fourth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays.|HPO|N|
C4022076|A deviation from the normal straight form of the distal phalanx of the fifth toe.|HPO|N|
C4022077|A deviation from the normal straight form of the distal phalanx of the fourth toe.|HPO|N|
C4022078|A deviation from the normal straight form of the distal phalanx of the third toe.|HPO|N|
C4022079|A deviation from the normal straight form of the proximal phalanx of the fifth toe.|HPO|N|
C4022080|A deviation from the normal straight form of the proximal phalanx of the fourth toe.|HPO|N|
C4022081|A deviation from the normal straight form of the proximal phalanx of the third toe.|HPO|N|
C4022082|A deviation from the normal straight form of the middle phalanx of the fifth toe.|HPO|N|
C4022083|A deviation from the normal straight form of the middle phalanx of the fourth toe.|HPO|N|
C4022084|A deviation from the normal straight form of the middle phalanx of the third toe.|HPO|N|
C4022085|An abnormal morphology of the distal phalanx of the fifth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.|HPO|N|
C4022086|An abnormal morphology of the distal phalanx of the fourth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.|HPO|N|
C4022087|An abnormal morphology of the distal phalanx of the third toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.|HPO|N|
C4022088|An abnormal morphology of the proximal phalanx of the fifth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.|HPO|N|
C4022089|An abnormal morphology of the proximal phalanx of the fourth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.|HPO|N|
C4022090|An abnormal morphology of the proximal phalanx of the third toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.|HPO|N|
C4022091|An abnormal morphology of the middle phalanx of the fifth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.|HPO|N|
C4022092|An abnormal morphology of the middle phalanx of the fourth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.|HPO|N|
C4022093|An abnormal morphology of the middle phalanx of the third toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.|HPO|N|
C4022105|Complete duplication of proximal phalanx of third toe.|HPO|N|
C4022114|Absence (agenesis) or underdevelopment of the proximal phalanx of the 5th toe.|HPO|N|
C4022115|Absence (agenesis) or underdevelopment of the proximal phalanx of the 4th toe.|HPO|N|
C4022116|Absence (agenesis) or underdevelopment of the proximal phalanx of the 3rd toe.|HPO|N|
C4022126|The joint between the fifth metatarsal and the proximal phalanx of the fifth toe cannot be straightened actively or passively.|HPO|N|
C4022127|The joint between the fourth metatarsal and the proximal phalanx of the fourth toe cannot be straightened actively or passively.|HPO|N|
C4022128|The joint between the third metatarsal and the proximal phalanx of the third toe cannot be straightened actively or passively.|HPO|N|
C4022129|The joint between the second metatarsal and the proximal phalanx of the 2nd toe cannot be straightened actively or passively.|HPO|N|
C4022130|The distal interphalangeal joint of the 5th toe cannot be straightened actively or passively.|HPO|N|
C4022131|The distal interphalangeal joint of the 4th toe cannot be straightened actively or passively.|HPO|N|
C4022132|The distal interphalangeal joint of the 3rd toe cannot be straightened actively or passively.|HPO|N|
C4022145|Fusion involving carpal and metacarpal bones.|HPO|N|
C4022146|Juvenile aseptic necrosis comprises a group of orthopedic diseases characterized by interruption of the blood supply of a bone, followed by localized bony necrosis most often of the epiphyses of bones of children or teenagers.|HPO|N|
C4022148|An abnormality of the dentate nucleus.|HPO|N|
C4022149|Nuclear or cytoplasmic aggregates of stainable substances within cells of the brain.|HPO|N|
C4022150|Cerebral inflammation involving a granulomatous response, i.e., a non-specific inflammatory response involving granulomas, defined as a compact organized collection of mature mononuclear phagocytes including epithelioid and giant cells.|HPO|N|
C4022151|The presence of a germ cell tumor of the cerebrum.|HPO|N|
C4022152|Bands of scar-like tissue that hve formed within a cerebral ventricle.|HPO|N|
C4022153|Atrophy of one side of the brain, characterized by findings including thinning of the cerebral cortex, reduced volume of the cerebral white matter with abnormal myelination, and enlargement of the ispilateral fourth ventricle.|HPO|N|
C4022155|Subsarcolemmal, eosinophilic glass-like regions in the cytoplasm of muscle fibers. Hyaline bodies show significant reactivity to myofibrillar ATPase after acid pre-incubation and with immunohistochemistry, show intense reactivity with only slow myosin heavy chain. Electron microscopy of the affected areas show a lack of myofibrils and a uniform, finely granular matrix, sometimes suggesting a filamentous nature, containing few scattered nuclei and mitochondria.|HPO|N|
C4022156|The presence of inclusion bodies within the nucleus of muscle cells. Inclusion bodies are aggregates (deposits) or stainable material, usually misfolded proteins.|HPO|N|
C4022157|The presence of inclusion bodies within the cytoplasm of muscle cells. Inclusion bodies are aggregates (deposits) or stainable material, usually misfolded proteins.|HPO|N|
C4022161|An increased volume of the endomysium, which is a connective tissue sheath that surrounds each muscule fiber. Together, bundles of muscle fibers form a fasciculus, surrounded by another layer of connective tissue called the perimysium.|HPO|N|
C4022162|The presence of amyloid deposition in the nerves of the peripheral nervous system.|HPO|N|
C4022163|An abnormal increase (delay) in the somatosensory central conduction time (CCT), which can be measured from the peak of N13 to the peak of N20 (peak CCT) or from the onset of N11 to the onset of N20 (onset CCT).|HPO|N|
C4022166|The presence of spontaneous bursts of rapidly firing potentials that recur at regular intervals of 2-10 per second and are unaffected by voluntary effort. This is an electromyographic (EMG) finding.|HPO|N|
C4022167|The presence of reduced conduction velocity of motor nerves on electromyography.|HPO|N|
C4022168|An electromyographic finding associated with erratic or absent neuromuscular transmission with erratic, moment-to-moment changes in the shape of the motor unit potential (MUP).|HPO|N|
C4022169|High frequency discharges in electromyography (EMG) that vary in amplitude and frequency, waxing and waning continuously with firing frequencies ranging from 150/second down to 20/second and producing a sound that has been referred to as a dive bomber sound.|HPO|N|
C4022170|Continuous electromyographic activity of motor units at rest, i.e., without voluntary movement of the muscles.|HPO|N|
C4022171|Benign congenital lesions of the periauricular soft tissue consisting of a blind-ending narrow tube or pit.|HPO|N|
C4022172|A small, skin-lined tract that leads from the surface to deep within the tissues.|HPO|N|
C4022173|Hyponasal speech is when there is an abnormally reduced nasal airflow during speech often in a setting of nasal obstruction or congestion.|HPO|N|
C4022174|An abnormality resulting from a defect or disruption of dorsoventral patterning that normally happens during early development of the limbs. A disruption of the normal development of the dorsoventral axis may lead to a variable spectrum of different phenotypic abnormalities that may affect the nails and or palmar and dorsal side of the hands and/or feet, ultimately changing the normal dorsoventral appearance of the affected limbs.|HPO|N|
C4022175|Depression located paramedially on the vermilion of a lip.|HPO|N|
C4022176|Depression located on the vermilion of the upper lip, usually paramedian.|HPO|N|
C4022180|The presence of multiple lipomas located in the central nervous system.|HPO|N|
C4022181|Calcium deposition affecting the Meninges.|HPO|N|
C4022182|Ectopic respiratory epithelium presenting as a superficial lesion in the skin usually localized unilateral in the skin of the forearm and associated with ipsilateral hand malformations.|HPO|N|
C4022184|An abnormal union between bones or parts of bones of the upper limbs.|HPO|N|
C4022188|The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the proximal phalanx of the 5th toe.|HPO|N|
C4022190|A pseudoepiphysis (an accessory epiphysis that does not significantly contribute to the longitudinal growth of a tubular bone) located in the proximal phalanx of the fifth toe.|HPO|N|
C4022199|The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the middle phalanx of the 5th toe.|HPO|N|
C4022201|A pseudoepiphysis (an accessory epiphysis that does not significantly contribute to the longitudinal growth of a tubular bone) located in the middle phalanx of the fifth toe.|HPO|N|
C4022210|The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the distal phalanx of the 5th toe.|HPO|N|
C4022221|The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the proximal phalanx of the 4th toe.|HPO|N|
C4022223|A pseudoepiphysis (an accessory epiphysis that does not significantly contribute to the longitudinal growth of a tubular bone) located in the proximal phalanx of the fourth toe.|HPO|N|
C4022232|The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the middle phalanx of the 4th toe.|HPO|N|
C4022234|A pseudoepiphysis (an accessory epiphysis that does not significantly contribute to the longitudinal growth of a tubular bone) located in the middle phalanx of the fourth toe.|HPO|N|
C4022243|The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the distal phalanx of the 4th toe.|HPO|N|
C4022253|Fragmented appearance of the epiphyses.|HPO|N|
C4022255|The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the proximal phalanx of the 3rd toe.|HPO|N|
C4022257|A pseudoepiphysis (an accessory epiphysis that does not significantly contribute to the longitudinal growth of a tubular bone) located in the proximal phalanx of the third toe.|HPO|N|
C4022266|The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the middle phalanx of the 3rd toe.|HPO|N|
C4022277|The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the distal phalanx of the 3rd toe.|HPO|N|
C4022287|Abnormality of the growth of the axillary hair. Axillary hair is part of the secondary sexual hair, which normally ensues during puberty.|HPO|N|
C4022288|Abnormality of the growth of the pubic hair. Pubic hair is part of the secondary sexual hair, which normally ensues during puberty.|HPO|N|
C4022290|The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the 2nd toe.|HPO|N|
C4022292|A pseudoepiphysis (an accessory epiphysis that does not significantly contribute to the longitudinal growth of a tubular bone) located in the proximal phalanx of the second toe.|HPO|N|
C4022301|The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the middle phalanx of the 2nd toe.|HPO|N|
C4022303|A pseudoepiphysis (an accessory epiphysis that does not significantly contribute to the longitudinal growth of a tubular bone) located in the middle phalanx of the second toe.|HPO|N|
C4022312|The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 2nd toe.|HPO|N|
C4022335|The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 5th toe.|HPO|N|
C4022338|Epiphyses of the 5th toe are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs.|HPO|N|
C4022346|The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 4th toe.|HPO|N|
C4022349|Epiphyses of the 4th toe are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs.|HPO|N|
C4022357|The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 3rd toe.|HPO|N|
C4022360|Epiphyses of the 3rd toe are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs.|HPO|N|
C4022368|The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 2nd toe.|HPO|N|
C4022371|Epiphyses of the 2nd toe are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs.|HPO|N|
C4022378|A broad appearance of the fifth toe.|HPO|N|
C4022379|A broad appearance of the fourth toe.|HPO|N|
C4022380|A broad appearance of the third toe.|HPO|N|
C4022381|A broad appearance of the second toe.|HPO|N|
C4022382|An Abnormality of cortical bone leading to an abnormal thickness of the cortex of affected bones.|HPO|N|
C4022383|Scalp hair whose growth is slower than normal.|HPO|N|
C4022384|An abnormality of the hair of head.|HPO|N|
C4022385|Accessory ectopic thyroid tissue arising from remnants of the thyroglossal duct anywhere along the path of the thyroglossal duct tract.|HPO|N|
C4022386|A form of hypersociability that presents as mostly inappropriate friendliness towards others.|HPO|N|
C4022387|A type of repetitive behavior in which the affected individual repeatedly waves the hands and/or arms rhythmically.|HPO|N|
C4022388|A cataract which is found in the back outer layer of the lens. This type often develops more rapidly.|HPO|N|
C4022391|A Malignant mesothelioma of the testis.|HPO|N|
C4022392|An early onset of puberty, in this case early does not refer to precocious.|HPO|N|
C4022393|An increased amount of 3-aminoisobutyric acid in the urine.|HPO|N|
C4022395|Any structural anomaly of the central compartment of the thoracic cavity.|HPO|N|
C4022397|Defect or defects of the morphogenesis of the left heart identifiable at birth.|HPO|N|
C4022399|Abnormally decreased concentration of hydrogencarbonate in the urine.|HPO|N|
C4022403|A structural anomaly of the substantia nigra, which is a midbrain dopaminergic nucleus which has a critical role in modulating motor movement and reward functions as part of the basal ganglia circuitry.|HPO|N|
C4022404|Aplasia (absence) of the lymphatic vessels.|HPO|N|
C4022413|An increased amount of carboxylic acid in the urine.|HPO|N|
C4022414|An increased amount of 3-hydroxybutyric acid in the urine.|HPO|N|
C4022419|Any abnormality in the serum transferrin saturation, which is calculated by dividing the serum iron level by total iron-binding capacity.|HPO|N|
C4022423|An abnormality of the composition of sweat or the levels of its components.|HPO|N|
C4022426|An abnormality in the reflexive contraction of the middle-ear muscles in response to sound stimulation.|HPO|N|
C4022443|A tumor (abnormal growth of tissue) of the outer ear.|HPO|N|
C4022447|Any structural abnormality of the tympanic membrane|HPO|N|
C4022449|Any deviation from the normal circulating creatine kinase concentration.|HPO|N|
C4022450|Any deviation from the normal concentration of calcium in the blood circulation.|HPO|N|
C4022453|Any structural anomaly of the ulna, a bone of the forearm the extends from the elbow to the little finger.|HPO|N|
C4022459|A decrease in the amount of adipose tissue.|NCI|N|
C4022476|Painless and spontaneous separation of a toenail from the nail bed.|HPO|N|
C4022477|Thickened fingernails.|HPO|N|
C4022498|Lack of skin pigmentation (coloring) of the chest.|HPO|N|
C4022501|An increased number of CD4-positive, CD25-positive regulatory T cells.|HPO|N|
C4022502|A structural anomaly of a CD4-positive, CD25-positive, alpha-beta T cell. These cells are regulatory T cells.|HPO|N|
C4022503|A structuraly anomaly of T cells that express an alpha-beta T cell receptor.|HPO|N|
C4022505|A reduced ability of the skin of the fingertips to wrinkle when exposed to stimuli such as soaking in water or application of EMLA cream (the fingertip remains smooth).|HPO|N|
C4022506|The presence of cartilage cells (chondrocytes) that are substantially increased in size and contain more than one nucleus and are located within the resting zone of the epiphyseal cartilage.|HPO|N|
C4022507|Decreased number of osteoclasts in bone tissue.|HPO|N|
C4022508|An anomaly in the number of osteoclasts in bone tissue, bone-resorbing cells that develop from macrophages. This finding can be observed by histological examination of bone tissue.|HPO|N|
C4022509|An anomaly in the number of macrophages.|HPO|N|
C4022510|Fissure within the spinal cord of the neck.|HPO|N|
C4022511|Underdevelopment of the vertebral artery on both sides.|HPO|N|
C4022512|An anomaly of the vertebral artery, the major artery of the neck that originates from the subclavian artery and merges to form the single midline basilar artery in a complex called the vertebrobasilar system.|HPO|N|
C4022513|An increase in the vertical distance between adjacent vertebral bodies, observed as an increase in the intervertebral disk space.|HPO|N|
C4022515|An anomalous structure of the periosteum, i.e., of the membrane that covers the outer surface of bones.|HPO|N|
C4022516|Displacement or malalignment of one or more joints in the lower extremity (leg).|HPO|N|
C4022517|Displacement or malalignment of one or more joints in the upper extremity (arm).|HPO|N|
C4022518|The presence of a splayed (i.e.,flared) metaphyseal segment of the distal fibula.|HPO|N|
C4022519|The presence of a splayed (i.e.,flared) metaphyseal segment of the distal tibia.|HPO|N|
C4022520|The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones of the leg.|HPO|N|
C4022521|The presence of 11 instead of the normal 12 thoracic vertebrae.|HPO|N|
C4022523|A deviation from the normal number of vertebrae in the spinal column.|HPO|N|
C4022524|Underdevelopment of the anterior commissure.|HPO|N|
C4022525|An anomaly of the anterior commissure, a bundle of nerve fibers that connect the two cerebral hemispheres across the midline. The anterior commissure plays a role in pain sensation and contains decussating fibers from the olfactory tracts.|HPO|N|
C4022526|Presence of only 10 (instead of the usual 12) pairs of ribs.|HPO|N|
C4022527|An anomaly of the metaphysis of the distal femur (close to the knee).|HPO|N|
C4022532|Irregularity of the normally smooth surface of a metaphysis of a fibula.|HPO|N|
C4022533|Irregularity of the normally smooth surface of a metaphysis of a tibia.|HPO|N|
C4022534|Irregularity of the normally smooth surface of one or more metaphyses of a bone of the leg.|HPO|N|
C4022535|Atrophy of the superior cerebellar peduncle.|HPO|N|
C4022536|Abnormal splayed configuration (spreading out) of the superior cerebellar peduncle.|HPO|N|
C4022537|A form of macrogloassia (increased size of the tongue) characterized by a broad based root of the tongue but a small tongue tip, giving the appearance of a triangle.|HPO|N|
C4022538|Fusion of cervical vertebrae at C3 and C4, caused by a failure in the normal segmentation or division of the cervical vertebrae during the early weeks of fetal development.|HPO|N|
C4022539|Underdeveloped pedicle of the fifth lumbar vertebra.|HPO|N|
C4022540|Underdeveloped vertebral pedicle.|HPO|N|
C4022541|Abnormal morphology of a vertebral pedical.|HPO|N|
C4022542|Scrotum in a position other than the usual position inferior to the base of the penis.|HPO|N|
C4022543|Additional scrotum, or part of a scrotum in an abnormal location.|HPO|N|
C4022544|Decrease in the level of adenosine deaminase (ADA), an enzyme involved in purine metabolism, within erythrocytes. ADA is involved in the catabolism of adenosine.|HPO|N|
C4022545|An altered level of any enzyme to act as catalysts within erythrocytes. This term includes changes due to altered activity of an enzyme.|HPO|N|
C4022546|This term refers to an inappropriate low 2,3-DPG concentration in erythrocytes. 2,3-diphosphoglycerate (2,3-DPG) controls the movement of oxygen from red blood cells to tissues. Anemia is usually accompanied by an increased level of 2,3-DPG in order to promote tissue oxygenation.|HPO|N|
C4022547|Increase in the level of adenosine deaminase (ADA), an enzyme involved in purine metabolism, within erythrocytes. ADA is involved in the catabolism of adenosine.|HPO|N|
C4022548|Increased growth of callus, the bony and cartilaginous material that forms a connecting bridge across a bone fracture during fracture healing.|HPO|N|
C4022549|Deposition of calcium salts in the fibrous sheet that connects the radius and the ulna.|HPO|N|
C4022551|Distance between left and right side of the flaccid penis at the attachment to the skin above the pubic symphysis more than 2 standard deviations above the mean for age.|HPO|N|
C4022552|Penile width more than 2 standard deviations (SD) below the mean for age. Alternatively circumference of the flaccid penis more than 2 SD below the mean for age. Alternatively, apparently decreased penile width for age.|HPO|N|
C4022553|Localized or generalized decreased genital pigmentation.|HPO|N|
C4022554|Localized or generalized increased genital pigmentation.|HPO|N|
C4022555|The presence of multiple polyps in the small intestine.|HPO|N|
C4022556|The presence of multiple polyps in the large intestine.|HPO|N|
C4022557|A reduced ability of a T cell population to expand by cell division following T cell activation.|HPO|N|
C4022558|Complete lack of mature B cells, that is, of B cells that have left the bone marrow.|HPO|N|
C4022559|Complete lack of memory B cells, that is, of mature B cell type that is long-lived, readily activated upon re-encounter of its antigenic determinant, and has been selected for expression of higher affinity immunoglobulin.|HPO|N|
C4022560|The term splanchnic vein thrombosis encompasses Budd-Chiari syndrome (hepatic vein thrombosis), extrahepatic portal vein obstruction (EHPVO), and mesenteric vein thrombosis; the word splanchnic is used to refer to the visceral organs (of the abdominal cavity).|HPO|N|
C4022561|The occurence of fever in a mother during the first trimester of pregnancy.|HPO|N|
C4022562|Underdevelopment of the musculature of the upper arm, which may include the deltoid, the triceps, the biceps, and the brachioradialis.|HPO|N|
C4022563|Abnormalities of the overall muscle bulk based on clinical observation.|HPO|N|
C4022564|An increased creatine kinase level more than 50X above the upper normal level.|HPO|N|
C4022565|An increased CPK level between 4X and 50X above the upper normal level.|HPO|N|
C4022566|Elevated glycogen content in the sarcoplasm (cytoplasm) of muscle fibers.|HPO|N|
C4022567|An increased amount of glycogen in muscle tissue found specifically in lysosomes.|HPO|N|
C4022568|The presence of disorganized areas called cores in the center of muscle fibers. There is a typical appearance of the biopsy on light microscopy, where the muscle cells have cores that are devoid of mitochondria and specific enzymes. Cores are typically well demarcated and centrally located, but may occasionally be multiple and of eccentric.|HPO|N|
C4022569|Immunohistochemistry shows accumulation of valosin-containing protein in the muscle biopsy.|HPO|N|
C4022570|A deviation from normal in the expression of valosin-containing protein in muscle tissue. Valosin-containing protein is an ubiquitously expressed multifunctional 100-kD protein that is a member of the AAA+ (ATPase associated with various activities) protein family.|HPO|N|
C4022571|Immunohistochemistry shows accumulation of myotilin protein in the muscle biopsy.|HPO|N|
C4022572|A deviation from normal in the expression of myotilin in muscle tissue. Myotilin is a 57kDa cytoskeletal protein.|HPO|N|
C4022573|A deviation from normal in the expression of desmin in muscle tissue. Desmin is an 53-kDa protein.|HPO|N|
C4022574|Difficulty in performing the correct execution of limbs movements in absence of motor impairment.|HPO|N|
C4022575|Reduction of goal-directed behaviors linked to the impairment in frontal executive functions (planning of an action for example).|HPO|N|
C4022576|Reduced velocity and acceleration in the pupillary light response.|HPO|N|
C4022577|The presence of autoantibodies (immunoglobulins) in the serum that react against voltage-gated calcium channels.|HPO|N|
C4022578|The presence of autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside-monosialic acid (GM1), which is a type of glycosphingolipid with one sialic acid. GM1 is located on the outer layer of the plasma membrane, and plays a vital role in neurogenesis, nerve development, differentiation and repair after injury.|HPO|N|
C4022579|A compound muscle action potential (CMAP) is a type of electromyography (EMG). CMAP refers to a group of almost simultaneous action potentials from several muscle fibers in the same area evoked by stimulation of the supplying motor nerve and are recorded as one multipeaked summated action potential. This abnormality refers to an abnormal increase in the amplitude during the course of the investigation.|HPO|N|
C4022580|Lack of improvement of muscle strength in response to administration of an acetylcholine esterase inhibitor.|HPO|N|
C4022581|Improvement of muscle strength in response to administration of an acetylcholine esterase inhibitor.|HPO|N|
C4022582|Specific drugs interfere selectively with the different cellular mechanisms involved in neuromuscular transmission (synthesis, storage, release, action and inactivation of transmitter). The response of a patient to a specific drug can therefore be useful information for the differential diagnosis.|HPO|N|
C4022583|A type of weakness of a skeletal muscle of proximal part of a limb that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.|HPO|N|
C4022584|A type of weakness of a skeletal muscle in the neck that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.|HPO|N|
C4022585|A type of weakness of a skeletal muscle of distal part of a limb that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.|HPO|N|
C4022586|A type of weakness of skeletal muscle that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.|HPO|N|
C4022587|A type of weakness of the muscles involved in breathing (respiration) that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.|HPO|N|
C4022588|A type of weakness of the muscles involved in swallowing that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.|HPO|N|
C4022589|A type of weakness of the muscles involved in speech that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.|HPO|N|
C4022590|A type of weakness of the muscles involved in chewing that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.|HPO|N|
C4022591|A type of weakness of the bulbar muscles (muscles of the mouth and throat responsible for speech and swallowing) that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.|HPO|N|
C4022592|Reduced muscle tone of oral musculature. In infants, this feature may be associated with difficulties in breast feeding, and may affect the latch, jaw motions, tongue placement, lip seal, suck/swallow/breathe pattern and overall feeding behavior.|HPO|N|
C4022593|Tremor classified by the affected body part.|HPO|N|
C4022594|An isometric tremor occurs with muscle contraction against a rigid stationary object (e.g., when making a fist).|HPO|N|
C4022595|Loss of strength in all four limbs. Tetraplegia refers to a complete loss of strength, whereas Tetraparesis refers to an incomplete loss of strength.|HPO|N|
C4022596|An anomaly in the magnitude of the action potential along a peripheral nerve, that is, of the rapid rise and fall of the electrical membrane potential of the nerve.|HPO|N|
C4022598|Loss of myelin from peripheral nerves in a pattern that differs between right and left.|HPO|N|
C4022599|Elevated thickness of the myelin sheath of peripheral nerves, in a regular and concentric fashion.|HPO|N|
C4022600|Congenital absence of the myelin sheath on a nerve.|HPO|N|
C4022601|Presence of a pseudoaneurysm in the artery that supplies the gallbladder and cystic duct with blood. A pseudoaneurysm, also known as a false aneurysm, forms when blood leaks through a breach of the arterial wall but is contained by the adventitia or surrounding perivascular soft tissue.|HPO|N|
C4022602|The presence of an increased number of twists and turns of the temporal artery.|HPO|N|
C4022603|Abnormality of vascular function.|HPO|N|
C4022604|Abnormally large size of glomeruli.|HPO|N|
C4022605|A structural anomaly of the liver located predominantly in the hepatocytes as opposed to stromal cells.|HPO|N|
C4022606|Complete lack of abdominal sounds as assayed by examination of the abdomen with a stethoscope.|HPO|N|
C4022607|An anomaly in the placement or shape of the hairline (trichion) on the back of the head (neck), that is, the border between skin on the back of the head that has head hair.|HPO|N|
C4022608|Recurrent or excessive bleeding from the mouth.|HPO|N|
C4022609|An abnormal high amount of bleeding following the procedure of taking a blood sample.|HPO|N|
C4022610|An abnormally increased degree of bleeding following a superfical injury to the surface of the skin.|HPO|N|
C4022611|Bleeding that persists for a longer than usual time following circumcision.|HPO|N|
C4022612|Abnormal response to ristocetin as manifested by increased aggregation of platelets upon addition of low-dose ristocetin to platelet-rich plasma.|HPO|N|
C4022614|Complete absence of all von Willebrand factor multimers.|HPO|N|
C4022615|Detection of abnormal ultra-large von Willebrand factor multimers.|HPO|N|
C4022617|Deviation from the normal von Willebrand factor multimer pattern.|HPO|N|
C4022619|Abnormal response to ristocetin as manifested by reduced or lacking aggregation of platelets upon addition of ristocetin to platelet-poor plasma.|HPO|N|
C4022620|An anomaly of the inner mucous membrane of the uterus.|HPO|N|
C4022621|A decreased amount of lamin A/C in muscle tissue. This feature can be shown by immunohistochemistry or Western blotting of muscle tissue.|HPO|N|
C4022622|A deviation from the normal amount of lamin A/C in muscle tissue. The LMNA gene gives rise to at least three splicing isoforms including the two main isoforms, lamin A and lamin C. These are constitutive components of the fibrous nuclear lamina and have different roles, ranging from mechanical nuclear membrane maintenance to gene regulation.|HPO|N|
C4022623|Immunohistochemistry reveals reduced perlecan protein in the muscle biopsy. Perlecan is a basement membrane-specific heparan sulfate proteoglycan core protein (HSPG) also known as heparan sulfate proteoglycan 2 (HSPG2).|HPO|N|
C4022624|Western blot reveals reduced calpain-3 protein in the muscle biopsy tissue.|HPO|N|
C4022625|Western blot shows complete lack of calpain-3 protein in the muscle biopsy tissue.|HPO|N|
C4022626|A deviation from normal in the amount of calpain-3 in muscle tissue. Calpains are intracellular nonlysosomal cysteine proteases modulated by calcium ions. A typical calpain is a heterodimer composed of two distinct subunits, one large (over 80 kDa) and the other small (30 kDa). While only one gene encoding the small subunit has been demonstrated, there are many genes for the large one. CAPN3 is similar to ubiquitous Calpain 1 and 2 (m-calpain and micro-calpain), but contains specific insertion sequences (NS, IS1 and IS2). Calpains cleave target proteins to modify their properties, rather than breaking down the substrates.|HPO|N|
C4022627|Immunohistochemistry reveals reduced emerin protein in the muscle biopsy.|HPO|N|
C4022628|Immunohistochemistry shows complete lack of emerin protein in the muscle biopsy.|HPO|N|
C4022629|A deviation from normal of the amount of the inner nuclear membrane protein emerin in muscle tissue.|HPO|N|
C4022630|Immunohistochemistry reveals reduced dysferlin protein in the muscle biopsy.|HPO|N|
C4022631|Immunohistochemistry shows complete lack of dysferlin protein in the muscle biopsy.|HPO|N|
C4022632|A deviation from normal in the expression of dysferlin in muscle tissue. Dysferlin is an ubiquitous 230-kDa transmembrane protein involved in calcium-mediated sarcolemma resealing.|HPO|N|
C4022633|A deviation from normal of muscle alpha-dystroglcan expression. Alpha-dystroglycan is a heavily glycosylated peripheral-membrane component of the dystrophin-associated glycoprotein complex (DAPC), which, in addition to laminin alpha2, binds perlecan and agrin in the extracellular matrix, whereas beta-dystroglycan, derived from the same gene, is a transmembrane protein that links to dystrophin intracellularly.|HPO|N|
C4022634|Abnormally reduced amount of delta sarcoglycan in muscle.|HPO|N|
C4022635|Immunohistochemistry shows complete lack of delta sarcoglycan protein in the muscle biopsy.|HPO|N|
C4022636|Immunohistochemistry shows complete lack of gamma sarcoglycan protein in the muscle biopsy.|HPO|N|
C4022637|Immunohistochemistry reveals reduced gamma sarcoglycan protein in the muscle biopsy.|HPO|N|
C4022638|Immunohistochemistry reveals reduced beta sarcoglycan protein in the muscle biopsy.|HPO|N|
C4022639|Immunohistochemistry shows complete lack of beta sarcoglycan protein in the muscle biopsy.|HPO|N|
C4022640|Deviation from normal in the amount of delta sarcoglycan in muscle. The alpha, beta, gamma, and delta sarcoglycans are components of the dystrophin-complex. They are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a cluster of conserved cysteines.|HPO|N|
C4022641|Deviation from normal in the amount of gamma sarcoglycan in muscle. The alpha, beta, gamma, and delta sarcoglycans are components of the dystrophin-complex. They are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a cluster of conserved cysteines.|HPO|N|
C4022642|Deviation from normal in the amount of beta sarcoglycan in muscle. The alpha, beta, gamma, and delta sarcoglycans are components of the dystrophin-complex. They are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a cluster of conserved cysteines.|HPO|N|
C4022643|A decreased amount of alpha sarcoglycan in muscle. Immunohistochemistry reveals reduced alpha sarcoglycan protein in the muscle biopsy.|HPO|N|
C4022644|Lack of alpha sarcoglycan in muscle. Immunohistochemistry reveals absent alpha sarcoglycan protein in the muscle biopsy.|HPO|N|
C4022645|Deviation from normal in the amount of alpha sarcoglycan in muscle. The alpha, beta, gamma, and delta sarcoglycans are components of the dystrophin-complex. They are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a cluster of conserved cysteines.|HPO|N|
C4022646|Immunohistochemistry reveals reduced alpha dystroglycan protein in the muscle biopsy. Alpha-dystroglycan is a heavily glycosylated peripheral-membrane component of the dystrophin-associated glycoprotein complex (DAPC), which, in addition to laminin alpha2, binds perlecan and agrin in the extracellular matrix, whereas beta-dystroglycan, derived from the same gene, is a transmembrane protein that links to dystrophin intracellularly.|HPO|N|
C4022647|Lack of dystrophin in muscle tissue. Immunohistochemistry reveals absent dystrophin protein in the muscle biopsy.|HPO|N|
C4022648|A deviation from normal in the amount of dystrophin in muscle fiber tissue. Dystrophin is located at the muscle sarcolemma in a membrane-spanning protein complex that connects the cytoskeleton to the basal lamina.|HPO|N|
C4022649|A reduced amount of laminin beta 1 in muscle fiber tissue. Laminin 2 is a major component of the basal lamina of skeletal muscle cells. It is a heterotrimer composed of 3 chains|HPO|N|
C4022650|A deviation from normal of the amount of laminin beta 1 in muscle fiber tissue. Laminin 2 is a major component of the basal lamina of skeletal muscle cells. It is a heterotrimer composed of 3 chains|HPO|N|
C4022651|A reduced amount of merosin in muscle fibers. This feature is usually assessed by immunohistochemical examination of muscle biopsy tissue.|HPO|N|
C4022652|An anomalous amount of merosin in muscle fibers. Merosin is a basement membrane-associated protein found in placenta, striated muscle, and peripheral nerve.|HPO|N|
C4022653|An anomalous amount of protein present in or on the surface of muscle fibers. This feature may be appreciate upon immunohistochemical investigation of muscle biopsy tissue.|HPO|N|
C4022655|Decreased concentration of lactate in the cerebrospinal fluid.|HPO|N|
C4022656|Abnormal concentration of lactate in the cerebrospinal fluid.|HPO|N|
C4022657|Abnormal consumption of fluids with excessive or insufficient consumption of fluid or any other abnormal pattern of fluid consumption.|HPO|N|
C4022658|Multiple pointlike areas of high T2 signal observed upon magnetic resonance imaging of the periventricular cerebral white matter.|HPO|N|
C4022659|An abnormal reduction in mitochondrial DNA content of cells.|HPO|N|
C4022660|The presence of an antibody in the blood circulation that is directed against the organism's own cells or tissues.|HPO|N|
C4022661|When viewed on end (with the tip of the toe pointing toward the examiner's eye) the curve of the toenail forms a tighter curve of convexity.|HPO|N|
C4022662|A morphological anomaly of the lateral ventricle.|HPO|N|
C4022663|A congenital anomaly characterized by a joining (fusion) of two or more lumbar vertebral bodies with one another.|HPO|N|
C4022664|A congenital anomaly characterized by a joining (fusion) of two or more thoracic vertebral bodies with one another.|HPO|N|
C4022665|Inability of the kidneys to produce either concentrated or dilute urine.|HPO|N|
C4022666|An incomplete absence of the foot, with no bony elements distal to the tarsals, but with preservation of some or all of the tarsals.|HPO|N|
C4022667|Significant reduction in both length and girth of the toe compared to the contralateral toe, or alternatively, compared to a typical toe size for an age-matched individual.|HPO|N|
C4022668|The absence of all phalanges of a digit and the associated metacarpal /metatarsal.|HPO|N|
C4022669|Lack of a palpable nasal cartilage.|HPO|N|
C4022670|A morphological anomaly of the nasal cartilage.|HPO|N|
C4022671|Flattening instead of curving or rounded superior helix, allowing the superior helix to run more horizontally than usual.|HPO|N|
C4022672|Small indentation in the lower part of the ascending helix, concha, or in the crus helix.|HPO|N|
C4022673|Small cartilaginous prominence on the posterior concha.|HPO|N|
C4022674|Small protrusion within the pinna.|HPO|N|
C4022675|Elevated sexual desire in female|HPO|N|
C4022676|Diminished sexual desire in female.|HPO|N|
C4022677|The persistent of recurrent difficulty, delay in, or absence of attaining orgasm following sufficient sexual stimulation and arousal.|HPO|N|
C4022679|Abnormality in single fiber EMG recording, a technique that allows identification of action potentials (APs) from individual muscle fibers.|HPO|N|
C4022681|Abnormality observed upon electromyography when nerve studied is electrically stimulated six to ten times at 2 or 3 Hertz.|HPO|N|
C4022682|An involuntary and painless delay in the relaxation of skeletal muscle following contraction or electrical stimulation that is induced by exposure to cold.|HPO|N|
C4022683|Slowed relaxation of muscles in the arm.|HPO|N|
C4022684|Slowed relaxation of muscles in the leg.|HPO|N|
C4022685|Slowed relaxation of muscles in the jaw.|HPO|N|
C4022686|Slowed relaxation of muscles in the face.|HPO|N|
C4022687|An anomaly identified by motor evoked potentials (MEPs). MEPs are measured following single-pulse or repetitive transcranial magnetic stimulation and can be used for the assessment of the excitability of the motor cortex and the integrity of conduction along the central and peripheral motor pathways.|HPO|N|
C4022688|Muscle hypertrophy affecting the scapular muscles.|HPO|N|
C4022689|Muscle hypertrophy affecting the paraspinal muscles.|HPO|N|
C4022690|Muscle hypertrophy affecting the muscles of the neck.|HPO|N|
C4022691|Hypertrophy of one or more muscles innervated by the facial nerve (the seventh cranial nerve).|HPO|N|
C4022692|Hair on the neck extends less inferiorly than usual.|HPO|N|
C4022693|Posterior malposition of the anus.|HPO|N|
C4022694|An anomaly of the neck of the uterus (lower part of the uterus), called the uterine cervix.|HPO|N|
C4022695|An anomaly of the outer labia.|HPO|N|
C4022696|An anomaly of the labia minora, the folds of skin between the outer labia.|HPO|N|
C4022697|A structural anomaly of the secretory duct of the testicle that carries spermatozoa from the epididymis to the prostatic urethra where it terminates to form ejaculatory duct.|HPO|N|
C4022698|Spermatozoa with very small cranial ends devoid of any nuclear material, that is, lacking a typical sperm head.|HPO|N|
C4022699|A structural abnormality of the sperm tail.|HPO|N|
C4022700|A structural abnormality of the sperm mid-piece.|HPO|N|
C4022701|A structural abnormality of the sperm neck.|HPO|N|
C4022702|A structural abnormality of the sperm head.|HPO|N|
C4022703|A structural anomaly of a male reproductive cell.|HPO|N|
C4022704|Any structural anomaly of a reproductive cell.|HPO|N|
C4022705|Decreased number or density of the folded ridges (wrinkles) of skin of the scrotum.|HPO|N|
C4022706|Increased number or density of the folded ridges (wrinkles) of skin of the scrotum.|HPO|N|
C4022707|Anomaly of the folded ridges (wrinkles) of skin of the scrotum.|HPO|N|
C4022708|Hypospadias with location of the urethral meatus in the middle of the inferior shaft of the penis.|HPO|N|
C4022709|Hepatic fibrosis that reaches from a portal area to another portal area.|HPO|N|
C4022710|Presence of a unitary trichilemmoma, a benign tumor originating from the outer root sheath of the hair follicle.|HPO|N|
C4022713|Noncompaction cardiomyopathy that affects both ventricles.|HPO|N|
C4022714|A predominantly right ventricular variant of isolated noncompaction cardiomyopathy.|HPO|N|
C4022715|Underdevelopment of part or all of the female external reproductive organs (which include the mons pubis, labia majora, labia minora, Bartholin glands, and clitoris).|HPO|N|
C4022716|Underdevelopment of the breast on both sides.|HPO|N|
C4022717|Decreased distance between the attachments of the alae nasi to the face.|HPO|N|
C4022718|An anomaly of the nasal base, which can be conceived of as an imaginary line between the most lateral points of the external inferior attachments of the alae nasi to the face.|HPO|N|
C4022719|One-sided weakness of the muscles of facial expression and eye closure.|HPO|N|
C4022720|Multiple areas of darker than expected signal on magnetic resonance imaging emanating from the cerebral white matter that surrounds the cerebral ventricles.|HPO|N|
C4022721|A lack of bone mineralization of one or more body of thoracic vertebra.|HPO|N|
C4022722|An anomaly of the process of formation of bone in the humerus.|HPO|N|
C4022723|A type of hearing impairment affecting primarily the middle frequencies of sound (1000 Hz to 3000 Hz).|HPO|N|
C4022724|Hearing loss that occurs acutely and resolves completely.|HPO|N|
C4022726|A structural anomaly of the ciliary body.|HPO|N|
C4022727|A lacy pattern or iris pigmentation that resembles the spokes of a bicycle wheel.|HPO|N|
C4022728|A deviation from normal of the relation between the upper and the lower segment of the body, where the lower segment is defined as the length between the top of pubic symphysis to floor, and the upper segment is defined as the top of head to top of pubic symphysis.|HPO|N|
C4022729|Increased length of the arm span (length from one end of an individual's arms measured at the fingertips to the other when raised parallel to the ground at shoulder height at a one-hundred eighty degree angle).|HPO|N|
C4022730|Decreased length of the arm span (length from one end of an individual's arms measured at the fingertips to the other when raised parallel to the ground at shoulder height at a one-hundred eighty degree angle).|HPO|N|
C4022731|A deviation from normal of the length of the arm span (length from one end of an individual's arms measured at the fingertips to the other when raised parallel to the ground at shoulder height at a one-hundred eighty degree angle)|HPO|N|
C4022732|A deviation from normal size of the placenta.|HPO|N|
C4022733|An increase in size of the anatomic space between the arachnoid membrane and pia mater in the region surrounding the cerebrum.|HPO|N|
C4022734|An increase in size of the anatomic space between the arachnoid membrane and pia mater in the region surrounding the cerebellum.|HPO|N|
C4022735|The presence of atrophy (wasting) of the cerebral white matter.|HPO|N|
C4022736|A reduced ability to participate in the back-and-forth flow of social interaction appropriate to culture and developmental level, which is normally characterized by an influence of the behavior of one person on the behavior of another person. This results in difficulty interacting with others through emotional, physical, or verbal communication.|HPO|N|
C4022737|A deviation from normal of the neurological development of a child, which may include any or all of the aspects of the development of personal, social, gross or fine motor, and cognitive abilities.|HPO|N|
C4022738|Neurodevelopmental delay (NDD) refers to delays in the maturation of the brain and central nervous system; infants and young children with NDD may experience delays in the development of one or more skills including gross motor abilities, fine-motor coordination, language abilities and ability to solve increasingly complex problems.|HPO|N|
C4022739|A structural anomaly of a neuron. Neurons are electrically excitable cells that transmit signals throughout the body. Neurons employ both electrical and chemical components in the transmission of information. Neurons are connected to other neurons at synapses and connected to effector organs or cells at neuroeffector junctions.|HPO|N|
C4022740|An increased polymorphonuclear cell count in the cerebrospinal fluid.|HPO|N|
C4022741|Abnormal increase in size of the brainstem.|HPO|N|
C4022742|Increased amount of myelin in the central nervous system.|HPO|N|
C4022743|A darker than expected T2 signal on magnetic resonance imaging (MRI) of the basal ganglia. This term refers to a diffuse hypointensity affecting all of the basal ganglia.|HPO|N|
C4022744|A darker than expected T2 signal on magnetic resonance imaging (MRI) of the basal ganglia. This term refers to a localized hypointensity affecting a particular region of the basal ganglia.|HPO|N|
C4022745|A deviation from normal signal on magnetic resonance imaging (MRI) of the basal ganglia.|HPO|N|
C4022746|A darker than expected T2 signal on magnetic resonance imaging (MRI) of the brainstem. This term refers to a diffuse hypointensity affecting the entire brainstem.|HPO|N|
C4022747|A darker than expected T2 signal on magnetic resonance imaging (MRI) of the brainstem. This term refers to a localized hypointensity affecting a particular region of the brainstem.|HPO|N|
C4022748|A lighter than expected T2 signal on magnetic resonance imaging (MRI) of the brainstem. This term refers to a localized hyperintensity affecting a particular region of the brainstem.|HPO|N|
C4022749|A deviation from normal signal on magnetic resonance imaging (MRI) of the brainstem.|HPO|N|
C4022750|Fingernail that appears thin when viewed on end.|HPO|N|
C4022751|Abnormal anatomic location of the anterior pituitary gland.|HPO|N|
C4022752|An eccentric abnormal localized widening (dilatation) of the descending thoracic aorta that involves only a portion of the circumference of the vessel wall|HPO|N|
C4022753|A concentric abnormal localized widening (dilatation) of the descending thoracic aorta that involves the full circumference of the vessel wall|HPO|N|
C4022754|An abnormally decreased potassium concentration in the blood occurring periodically with a return to normal between the episodes.|HPO|N|
C4022755|Abnormal functionality of the gastrointestinal tract.|HPO|N|
C4022756|A profound (essentially complete) form of hearing impairment.|HPO|N|
C4022757|The presence of a moderate form of hearing impairment.|HPO|N|
C4022758|The presence of a mild form of hearing impairment.|HPO|N|
C4022759|A delay in the process of formation and maturation of the epiphysis of one or more vertebrae.|HPO|N|
C4022760|A deviation from normal in the ratio of choline to creatine in the brain identified by magnetic resonance spectroscopy (MRS).|HPO|N|
C4022761|A decrease in the level of N-acetyl aspartate in the brain identified by magnetic resonance spectroscopy (MRS).|HPO|N|
C4022762|An increase in the level of lactate in the brain identified by magnetic resonance spectroscopy (MRS).|HPO|N|
C4022763|An increase in the level of choline-containing compounds in the brain identified by magnetic resonance spectroscopy (MRS).|HPO|N|
C4022764|An anomaly of metabolism in the brain identified by magnetic resonance spectroscopy (MRS).|HPO|N|
C4022765|Abnormality in the space in the meninges beneath the arachnoid membrane and above the pia mater that contains the cerebrospinal fluid.|HPO|N|
C4022766|A functional anomaly of the large intestine.|HPO|N|
C4022767|A structural abnormality of a diaphysis of the leg.|HPO|N|
C4022768|Focal proliferation of glial cells in the cerebellum.|HPO|N|
C4022769|Decreased size of the basal ganglia.|HPO|N|
C4022770|A deviation from normal signal on magnetic resonance imaging (MRI) of the thalamus.|HPO|N|
C4022771|A reduction in the quantity of space occupied by the thalamus.|HPO|N|
C4022772|An increase in the quantity of space occupied by the thalamus.|HPO|N|
C4022773|Deviation from the normal range of size of the thalamus.|HPO|N|
C4022774|A lighter than expected T2 signal on magnetic resonance imaging (MRI) of the thalamus. This term refers to a localized hyperintensity affecting a particular region of the thalamus.|HPO|N|
C4022775|A darker than expected T2 signal on magnetic resonance imaging (MRI) of the thalamus. This term refers to a localized hypointensity affecting a particular region of the thalamus.|HPO|N|
C4022776|A darker than expected T2 signal on magnetic resonance imaging (MRI) of the thalamus. This term refers to a diffuse hypointensity affecting the entire thalamus.|HPO|N|
C4022777|An anomaly in the amount or timing of melatonin secretion by the pineal gland. Note that melatonin is also synthesized by multiple tissues outside of the pineal gland.|HPO|N|
C4022778|A functional abnormality of the pineal gland.|HPO|N|
C4022779|An abnormal elevation in the quantity of three-dimensional space taken up by the pineal gland.|HPO|N|
C4022780|An abnormal reduction in the quantity of three-dimensional space taken up by the pineal gland.|HPO|N|
C4022781|An abnormal increase or decrease in the quantity of three-dimensional space taken up by the pineal gland.|HPO|N|
C4022782|A structural abnormality of the pineal gland.|HPO|N|
C4022783|An anomaly of the pineal gland,a small endocrine gland in the brain that produces melatonin.|HPO|N|
C4022784|An increase in the distance between vertebral pedicles, which are the two short, thick processes, which project backward, one on either side, from the upper part of the vertebral body, at the junction of its posterior and lateral surfaces.|HPO|N|
C4022785|An anomalous build up of iron (Fe) in the substantia nigra.|HPO|N|
C4022787|An anomalous build up of copper (Cu) in the brain.|HPO|N|
C4022788|A failure to develop of the upper vagina.|HPO|N|
C4022789|An abnormal motion of a segment of the left ventricle during the cardiac cycle.|HPO|N|
C4022790|A large reduction in the fraction of blood pumped from the left ventricle with each cardiac cycle. The normal range in adults is at over 50 percent, and a severe reduction is defined as less than 30 percent.|HPO|N|
C4022791|A medium reduction in the fraction of blood pumped from the left ventricle with each cardiac cycle, defined as a left ventricular ejection fraction of 30-39 percent.|HPO|N|
C4022792|A diminution of the volumetric fraction of blood pumped out of the ventricle with each cardiac cycle.|HPO|N|
C4022793|A small reduction in the fraction of blood pumped from the left ventricle with each cardiac cycle. The normal range in adults is at least 50 percent, and a mild reduction is defined as 40-49 percent.|HPO|N|
C4022794|Reduced uptake of [18F]-fluorodeoxyglucose (FDG) in the parietal cortex as measured by positron emission tomography (PET) brain scan.|HPO|N|
C4022795|Reduced uptake of [18F]-fluorodeoxyglucose (FDG) in the hypothalamus as measured by positron emission tomography (PET) brain scan.|HPO|N|
C4022796|Reduced uptake of [18F]-fluorodeoxyglucose (FDG) in the thalamus as measured by positron emission tomography (PET) brain scan.|HPO|N|
C4022797|Reduced uptake of [18F]-fluorodeoxyglucose (FDG) in the prefrontal cortex as measured by positron emission tomography (PET) brain scan.|HPO|N|
C4022798|An anomaly detectable in [18F]-fluorodeoxyglucose (FDG) positron emission tomography (PET) brain scans. Glucose uptake measured with FDG-PET is a marker of neuronal metabolic activity.|HPO|N|
C4022799|A functional brain anomaly detectable by positron emission tomography (PET). PET scanning is a method for functional brain imaging, and its measurements reflect the amount of brain activity in the various regions of the brain.|HPO|N|
C4022802|Abnormal concentration of dopamine in the cerebrospinal fluid (CSF).|HPO|N|
C4022803|A abnormal increase in the inflammatory response to injury or infection.|HPO|N|
C4022804|An abnormal reduction in the inflammatory response to injury or infection.|HPO|N|
C4022805|Any anomaly of the inflammatory response, a response to injury or infection characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages.|HPO|N|
C4022806|An elevated concentration of lactate in the caudate nucleus. This finding can be elicited by magnetic resonance spectroscopy imaging.|HPO|N|
C4022807|Decreased amount of pigmentation in the fovea centralis.|HPO|N|
C4022808|Cerebellar agenesis is defined by the near complete absence of cerebellar tissue with only remnants of the anterior vermis, flocculus, and/or middle cerebellar peduncles.|HPO|N|
C4022809|A deviation from the norm of the intracranial pressure.|HPO|N|
C4022810|A structural anomaly of the nervous system.|HPO|N|
C4022811|A functional anomaly of the nervous system.|HPO|N|
C4022812|Reduction in the amount of blood flow to the iris.|HPO|N|
C4022813|Shedding of the pigment granules that normally adhere to the back of the iris into the aqueous humor.|HPO|N|
C4022814|An anomaly of the trabecular meshwork, which is the porelike structure surrounding the entire circumference of the anterior chamber at the base of the cornea and near the ciliary body. The trabecular mesh work is responsible for draining the aqueous humor into the canal of Schlemm.|HPO|N|
C4022815|Deposition of fibrillar material that can be found on all anterior segment structures bathed by aqueous humor.|HPO|N|
C4022816|A developmental anomaly associated with the failure of rectum, vagina, and bladder to separate.|HPO|N|
C4022817|Presence of a many diverticula (sac or pouch) in the wall of the urinary bladder.|HPO|N|
C4022819|Presence of leukocyte casts (cylindrical structures produced by the kidney in certain disease states) in the urine.|HPO|N|
C4022820|Elevated concentration of SO4(2-), i.e., sulfate, in the urine.|HPO|N|
C4022821|Abnormal concentration of sulfate in the urine.|HPO|N|
C4022823|An abnormal concentration of magnesium the urine.|HPO|N|
C4022824|An abnormally decreased sodium concentration in the urine.|HPO|N|
C4022825|An abnormal concentration of sodium in the urine.|HPO|N|
C4022826|High urine chloride in the presence of hypochloridemia.|HPO|N|
C4022827|An abnormal concentration of chloride in the urine.|HPO|N|
C4022828|An abnormal phosphate concentration in the urine.|HPO|N|
C4022829|An abnormal concentration of potassium(1+) in the urine.|HPO|N|
C4022830|Severely increased levels of protein in the urine (1000-3000 mg per day in adults).|HPO|N|
C4022831|Moderately increased levels of protein in the urine (500-1000 mg per day in adults).|HPO|N|
C4022832|Mildly increased levels of protein in the urine (150-500 mg per day in adults).|HPO|N|
C4022833|An abnormality in the concentration of electrolytes in the urine.|HPO|N|
C4022834|A form of nephrotic syndrome that does not respond to any immunosuppresive treatment.|HPO|N|
C4022835|A two-sided form of atrophy of the kidney.|HPO|N|
C4022836|A single cyst located in the kidney.|NCI|N|
C4022838|A structural anomaly of the nephron.|HPO|N|
C4022839|A type of proximal renal tubulopathy characterized by resorption defects leading to glycosuria, aminoaciduria, tubular proteinuria, renal hypophosphatemia, and urate tubular hyporeabsorption with bicarbonate loss and resulting acidosis.|HPO|N|
C4022840|Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the ulna, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone.|HPO|N|
C4022841|Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the radius, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone.|HPO|N|
C4022842|Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the tibia, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone.|HPO|N|
C4022843|Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the foot, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone.|HPO|N|
C4022844|Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the hand, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone.|HPO|N|
C4022845|A ratio of serum triiodothyronine (T3) to thyroxine (T4) in the blood that is lower than normal.|HPO|N|
C4022846|A ratio of serum triiodothyronine (T3) to thyroxine (T4) in the blood that is higher than normal.|HPO|N|
C4022847|A ratio of serum triiodothyronine (T3) to thyroxine (T4) in the blood that deviates from normal.|HPO|N|
C4022848|EEG with focal sharp transient waves in the centrotemporal region of the brain (also known as the central sulcus), i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave.|HPO|N|
C4022849|Absence of thumb nail.|HPO|N|
C4022850|A thumbnail that is diminished in length and width, i.e., underdeveloped thumb nail.|HPO|N|
C4022851|Presence of an elevated number of projections from nuclei of neutrophils. These projections can have the shape of hooks, tags, or clubs.|HPO|N|
C4022852|Lack of specific granules in neutrophils.|HPO|N|
C4022853|The presence of varices (enlarged and convoluted blood vessels) in the colon.|HPO|N|
C4022854|A lipoma (a benign tumor composed of adipose tissue) located in the conjunctiva.|HPO|N|
C4022855|Anomalous movements of the eyes that occur without the subject wanting them to happen.|HPO|N|
C4022856|A deviation from equal (50%) inactivation of each parental X chromosome in maternal cells.|HPO|N|
C4022857|Concentration of fructose 1,6-bisphosphate aldolase in the blood circulation below the lower limit of normal.|HPO|N|
C4022858|Concentration of fructose 1,6-bisphosphate aldolase in the blood circulation above the upper limit of normal.|HPO|N|
C4022859|An epidermoid cyst in the armpit.|HPO|N|
C4022860|The presence of circulating autoantibodies to anticardiolipin in the mother.|HPO|N|
C4022861|A deviation from the normal count of dense granules per thrombocyte.|HPO|N|
C4022862|A deviation from the normal count of alpha granules per thrombocyte.|HPO|N|
C4022863|A deviation from the normal contents of the platelet alpha granules, which normally contain hemostatic proteins such as fibrinogen, von Willebrand factor, and growth factors such as platelet-derived growth factor.|HPO|N|
C4022864|A lack of platelet alpha granules. This typically results in the gray appearance of platelets in giemsa stained blood smears.|HPO|N|
C4022865|An anomalous location and arrangement of platelet alpha granules.|HPO|N|
C4022866|A deviation from the normal discoid platelet shape.|HPO|N|
C4022867|A form of telangiectasis characterized by a central elevated red dot the size of a pinhead, representing an arteriole, with numerous small blood vessels that radiate out thereby resembling the legs of a spider. Characteristically, compression of the central arteriole causes the entire lesion to blanch, and the lesion quickly refills once the compression is released.|HPO|N|
C4022868|An anomaly of the circle of Willis, also known as the cerebral arterial circle.|HPO|N|
C4022869|Activity or concentration of catalase in the blood circulation below the lower limit of normal.|HPO|N|
C4022870|A pale yellow discoloration of the entire optic disc.|HPO|N|
C4022871|An increased amount of cerebrospinal fluid (CSF) in the subarachnoid space.|HPO|N|
C4022872|An abnormally decreased amount of thyroxin-binding globulin (TBG) in blood. TBG is responsible for carrying the thyroid hormones thyroxine (T4) and 3,5,3'-triiodothyronine (T3) in the bloodstream.|HPO|N|
C4022873|An abnormally decreased size of the pituitary gland.|HPO|N|
C4022874|A deviation from the normal size of the pituitary gland.|HPO|N|
C4022875|An anomaly of the internal capsule, which is an area of white matter in the brain that separates the caudate nucleus and the thalamus from the putamen and the globus pallidus.|HPO|N|
C4022876|An anomaly of the white matter of brainstem.|HPO|N|
C4022877|A wartlike (with multiple small elevated projections) papule.|HPO|N|
C4022878|A separation of the layers within the wall of the descending aorta. Tears in the intimal layer result in the propagation of dissection (proximally or distally) secondary to blood entering the intima-media space.|HPO|N|
C4022879|A decrease in the maximum amount of pressure of expired air achieved by a person after a full inspiration.|HPO|N|
C4022880|A decrease in the maximum amount of negative pressure a person can generate during an inhalation.|HPO|N|
C4022881|An anomaly of the intracellular membrane complexes known as the dense tubular system.|HPO|N|
C4022882|An arachnoid cyst that progressively enlarges from an abnormality in the membrane of Liliequist or in the interpeduncular cistern, and typically, expands from the prepontine space, displacing the floor of the third ventricle upwards, the pituitary stalk and optic chiasm upwards and forwards, and the mammillary bodies upwards and backwards.|HPO|N|
C4022883|An arachnoid cyst located within the ventricular system.|HPO|N|
C4022884|An arachnoid cyst located at the margin of the cerebellum and pons.|HPO|N|
C4022885|Defective structure, size or content of dense granules, platelet organelles that contain granules proaggregatory factors such as adenosine diphosphate (ADP), adenosine triphosphate (ATP), ionized calcium, histamine and serotonin.|HPO|N|
C4022886|Defective structure, size or content of alpha granules, platelet organelles that contain several growth factors destined for release during platelet activation at sites of vessel wall injury.|HPO|N|
C4022887|A venous angioma of the frontal lobe of the brain.|HPO|N|
C4022888|An anomaly of cerebral veins.|HPO|N|
C4022889|A wavering, unsteady voice that reflects involuntary and approximately sinusoidal oscillation of motor unit firings of laryngeal muscles. Vocal tremor results in low frequency modulations of voice frequency or amplitude and intermittent voice instability.|HPO|N|
C4022890|The presence of normal overall immunoglobulin levels with deficiency of specific immunoglobulins directed against pneumococci.|HPO|N|
C4022891|An increased level of iron in liver tissues.|HPO|N|
C4022892|An above normal level of saturation of serum transferrin with iron.|HPO|N|
C4022893|A structural anomaly of the inferior portion of the vermis of cerebellum.|HPO|N|
C4022894|Calcification, that is, pathological deposition of calcium salts in the tunica media of small arteries.|HPO|N|
C4022895|Calcification, that is, pathological deposition of calcium salts in the tunica media of medium-sized (muscular or distributive) arteries.|HPO|N|
C4022896|Calcification, that is, pathological deposition of calcium salts in the tunica media of arteries.|HPO|N|
C4022898|A chronic loss of wrist joint motion on one side only.|HPO|N|
C4022899|A chronic loss of wrist joint motion on the right and left sides.|HPO|N|
C4022900|Inflammation of the synovial membrane of the sacroiliac joint.|HPO|N|
C4022901|A reduced concentration of 5-methyltetrahydrofolate(2-) in the cerebrospinal fluid (CSF). 5-methyltetrahydrofolate is the active folate metabolite.|HPO|N|
C4022902|A functional abnormality of the biliary tree.|HPO|N|
C4022903|A functional anomaly of the gallbladder.|HPO|N|
C4022904|A structural anomaly of the gallbladder.|HPO|N|
C4022905|Reduction in length of the ventral (lower) skin of prepuce of penis.|HPO|N|
C4022906|A failure to meet one or more age-related milestones of social behavior.|HPO|N|
C4022907|Intermittent and recurrent bouts of a subjective feeling of tiredness characterized by a lack of energy and motivation.|HPO|N|
C4022908|Underdevelopment of the cerebral white matter.|HPO|N|
C4022909|An increased degree of femoral version, which is defined as the angular difference between axis of femoral neck and transcondylar axis of the knee. Thus, femoral anteversion is an inward twisting of the femur that causes the knees and feet to turn inward.|HPO|N|
C4022910|An abnormally high level of blood oxygen.|HPO|N|
C4022911|Wasting or decrease in size of all or part of the duodenum.|HPO|N|
C4022912|The presence of a V-shaped indentation (notch) in the primary central incisor.|HPO|N|
C4022913|A deviation from normal of the concentration of citrate(3-) in the urine.|HPO|N|
C4022914|A lower than normal concentration of 2-oxoglutaric acid in the urine.|HPO|N|
C4022915|A greater than normal concentration of 2-oxoglutaric acid in the urine.|HPO|N|
C4022916|An abnormal concentration of aldolase in the serum. Aldolase is an enzyme responsible for converting fructose 1,6-bisphosphate into the triose phosphates dihydroxyacetone phosphate and glyceraldehyde 3-phosphate.|HPO|N|
C4022917|Allergy to iodine contrast media used in radiological studies.|HPO|N|
C4022918|Reduced intensity of muscle tendon reflexes in jaw.|HPO|N|
C4022919|Muscular hypotonia of one or more limbs.|HPO|N|
C4022920|A delay in the development of skills required to feed oneself in the toddler period (between one and three years of age).|HPO|N|
C4022921|Reduced carnitine O-palmitoyltransferase (CPT II; EC 2.3.1.21) activity or level, leading to a reduced activity of the reaction|HPO|N|
C4022924|A functional anomaly of the eye.|HPO|N|
C4022925|A structural anomaly of the globe of the eye, or bulbus oculi.|HPO|N|
C4022927|Bony defects situated along the cranial suture lines or at the junction of the bone plates of the skull.|HPO|N|
C4022928|An reduced addition of sialic acids to O-linked glycans.|HPO|N|
C4022929|An anomaly of the addition of sialic acids to O-linked glycans.|HPO|N|
C4022930|Increased addition of fucose sugar units to O-linked glycans.|HPO|N|
C4022931|A reduction of the addition of fucose sugar units to O-linked glycans.|HPO|N|
C4022932|An anomaly of the addition of fucose sugar units to O-linked glycans.|HPO|N|
C4022933|An anomaly of protein O-linked glycosylation, i.e., of the process in which a carbohydrate or carbohydrate derivative unit is added to a protein via the hydroxyl group of a serine or threonine residue.|HPO|N|
C4022934|Increased addition of mannose to N-linked glycans.|HPO|N|
C4022935|Reduced addition of mannose to N-linked glycans.|HPO|N|
C4022936|An anomaly of the addition of mannose to N-linked glycans.|HPO|N|
C4022937|Increased addition of fucose sugar units to N-linked glycans.|HPO|N|
C4022938|Decreased addition of fucose sugar units to N-linked glycans.|HPO|N|
C4022939|An anomaly of the addition of fucose sugar units to N-linked glycans.|HPO|N|
C4022940|Increased addition of sialic acids to N-linked glycans.|HPO|N|
C4022941|Decreased addition of sialic acids to N-linked glycans.|HPO|N|
C4022942|An anomaly of the addition of sialic acids to N-linked glycans.|HPO|N|
C4022943|A reduction in the amount of galactose residues of N-glycans.|HPO|N|
C4022944|An anomaly of protein N-linked glycosylation, i.e., an abnormality of the protein glycosylation process in which a carbohydrate or carbohydrate derivative unit is added to a protein via a nitrogen atom in an amino acid residue in a protein.|HPO|N|
C4022945|An anomaly of a protein glycosylation process, i.e., of a protein modification process that results in the addition of a carbohydrate or carbohydrate derivative unit to a protein amino acid, e.g. the addition of glycan chains to proteins.|HPO|N|
C4022946|An anomaly of a glycosylation process, i.e., a process involved in the covalent attachment of a glycosyl residue to a substrate molecule.|HPO|N|
C4022947|A reduction in the number of calories used per unit time.|HPO|N|
C4022948|An increase in the number of calories used per unit time.|HPO|N|
C4022949|Any anomaly in the utilization of energy (calories).|HPO|N|
C4022950|An anomaly in the processes involved in the maintenance of an internal equilibrium.|HPO|N|
C4022951|An abnormality of the metabolism of folic acid, which is also known as vitamin B9.|HPO|N|
C4022953|A structural abnormality of the autonomic nervous system.|HPO|N|
C4022954|An anomaly of the celiac artery.|HPO|N|
C4022955|Lack of skin pigmentation (coloring) of the arms and legs.|HPO|N|
C4022956|Lack of skin pigmentation (coloring) of the abdomen.|HPO|N|
C4022957|An anomaly of the process of rib bone formation.|HPO|N|
C4022958|Narrowing or constriction of the aorta localized to the region of the descending trunk of arch of aorta.|HPO|N|
C4022959|Failure of the ureter to undergo development.|HPO|N|
C4022960|Increased length of the middle phalanx of finger.|HPO|N|
C4022961|Reduced diameter of the proximal phalanx of finger.|HPO|N|
C4022962|Reduced diameter of the distal phalanx of finger.|HPO|N|
C4022963|Reduced diameter of the middle phalanx of finger.|HPO|N|
C4022964|Abnormality of the occipital bone of the skull.|HPO|N|
C4022965|An abnormal pigmentation pattern of the external genitalia.|HPO|N|
C4022966|A congenital defect with an abnormal joining of the gums of the upper and lower jaw.|HPO|N|
C4022967|Decreased secretion of luteinizing hormone-releasing hormone by the hypothalamus.|HPO|N|
C4022968|An abnormal functionality of the hypothalamus.|HPO|N|
C4022969|Reduced size of the proximal epiphysis of the tibia.|HPO|N|
C4022970|Reduced size of the Distal epiphysis of femur.|HPO|N|
C4022971|Reduced concentration of serine in the blood.|HPO|N|
C4022973|An abnormally reduced concentration of glycine in the blood.|HPO|N|
C4022975|A type of autosomal dominant inheritance involving a gene that is imprinted with maternal silencing.|HPO|N|
C4022976|A type of autosomal dominant inheritance involving a gene that is imprinted with paternal silencing.|HPO|N|
C4022977|An increase in the combined thickness of the intima and media of the carotid artery.|HPO|N|
C4022978|Intermittent episodes of increased resistance to the passage of air in the upper airway.|HPO|N|
C4022979|A decreased amount of glycogen in muscle tissue.|HPO|N|
C4022980|Any anomaly in the amount of glycogen in muscle tissue.|HPO|N|
C4022981|Absence of the radial spokes of the axoneme of the respiratory cilium.|HPO|N|
C4022982|Absence of the two central microtubules of motile cilia with a 9+2 microtubuluar configuration.|HPO|N|
C4022983|Any anomaly of the normal motility of motile cilia. Evaluation of ciliary beat frequency and ciliary beat pattern requires high-speed videomicroscopy of freshly obtained ciliary biopsies that are maintained in culture media under controlled conditions.|HPO|N|
C4022984|Any functional anomaly of the respiratory motile cilia.|HPO|N|
C4022985|A structural anomaly of the two central microtubules of motile cilia with a 9+2 microtubuluar configuration.|HPO|N|
C4022986|Complete absence of the dynein arms of respiratory motile cilia, that is, absence of the inner and the outer dynein arms, which normally are situated inside and outside of the peripheral microtubules of motile cilia. This feature is usually appreciated by electron microscopy.|HPO|N|
C4022987|Abnormal arrangement of the structures of the axoneme, which is the cytoskeletal structure that forms the inner core of the motile cilium and displays a canonical 9+2 microtubular pattern of motile cilia studded with dynein arms.|HPO|N|
C4022988|Absence of the inner dynein arms of respiratory motile cilia, which normally are situated within the peripheral microtubules of motile cilia. This feature is usually appreciated by electron microscopy.|HPO|N|
C4022989|Absence of the outer dynein arms of respiratory motile cilia, which normally are situated outside of the peripheral microtubules of motile cilia. This feature is usually appreciated by electron microscopy.|HPO|N|
C4022990|An anomaly of the dynein arms of motile cilia. This feature is usually appreciated by electron microscopy.|HPO|N|
C4022991|Any structural anomaly of the pseudostratified ciliated epithelium that lines much of the conducting portion of the airway, including part of the nasal cavity and larynx, the trachea, and bronchi.|HPO|N|
C4022992|A structural anomaly of the respiratory system.|HPO|N|
C4022993|An electrocardiographic anomaly of the ST segment, which is the segment that connects the QRS complex and the T wave. The ST segment normally has a duration of 80 to 120 ms, is flat and at the same level (isoelectric) as the PR and TP segment.|HPO|N|
C4022994|Anosmia for one particular odor.|HPO|N|
C4022995|Development of the reproductive system is inconsistent with the chromosomal sex.|HPO|N|
C4022996|Anomaly of primary or secondary sexual development or characteristics.|HPO|N|
C4022997|Reduced number of primary teeth.|HPO|N|
C4022998|The presence of multiple hemangiomas in the arachnoid.|HPO|N|
C4022999|The presence of multiple epithelioid cell granulomas consist of highly differentiated mononuclear phagocytes (epithelioid cells and giant cells) and lymphocytes, not exhibiting caseation (a form of necrosis in which the tissue changes into a dry, amorphous mass said to resemble cheese).|HPO|N|
C4023000|The concentration of porphobilinogen in the urine, normalized for urine concentration, is above the upper limit of normal.|HPO|N|
C4023003|Recurrent infection involving the vulva, vagina, and adjacent crural areas, whereby the causative agent belongs to the genus Candida.|HPO|N|
C4023004|An increase in the concentration of bile acid in the blood.|HPO|N|
C4023005|An anomaly of clotting factor II, which is known as prothrombin, a vitamin K-dependent proenzyme that functions in the blood coagulation cascade.|HPO|N|
C4023006|The presence of more than 5 juvenile polyps of the colon. The term juvenile polyps refer to a special histopathology and not the age of onset as the polyp might be diagnosed at all ages. The juvenile polyp has a spherical appearance and is microscopically characterized by overgrowth of an oedematous lamina propria with inflammatory cells and cystic glands.|HPO|N|
C4023007|Concentration of protoporphyrins in erythrocytes above the upper limit of normal.|HPO|N|
C4023008|An entrapment neuropathy of the ulnar nerve in the cubital tunnel (in the elbow) characterized by numbness in the ring and little fingers and weakness of the intrinsic muscles in the hand.|HPO|N|
C4023009|Injury to the median nerve caused by its entrapment at the wrist as it traverses through the carpal tunnel. Clinically, constrictive median neuropathy is characterized by pain, paresthesia, and weakness in the median nerve distribution of the hand.|HPO|N|
C4023010|Presence of multiple hyperplastic polyps in the colon. Hyperplastic polyps are generally about 5 mm in size and show hyperplastic mucosal proliferation.|HPO|N|
C4023011|A form of focal dystonia affecting the face and especially the jaw that is induced by the act of speaking. It is an involuntary contraction of the masticatory muscles, resulting in dysarthria or dysphagia.|HPO|N|
C4023012|A functional anomaly of the natural killer cell.|HPO|N|
C4023013|Habitual repetitive movement of the entire body, front to back or side to side.|HPO|N|
C4023015|A separation (dissection) of the layers of the common carotid artery wall.|HPO|N|
C4023016|A separation (dissection) of the layers of the external carotid artery wall.|HPO|N|
C4023017|A separation (dissection) of the layers of the intracranial portion of the internal carotid artery wall.|HPO|N|
C4023018|Atrophy of the cerebral subcortical white and gray matter, termed subcortical atrophy, reflects loss of nerve cells in the basal ganglia or fibers in the deep white matter.|HPO|N|
C4023019|Abnormality/dysplasia of a single myeloid cell (erythroid, granulocytic, or megakaryocytic).|HPO|N|
C4023020|Myelodysplasia with dysplastic changes in two of the myeloid lineages|HPO|N|
C4023021|Myelodysplasia with dysplastic changes in two or more of the myeloid lineages|HPO|N|
C4023022|Decreased quantity of von Willebrand factor.|HPO|N|
C4023023|Decreased quantity or activity of von Willebrand factor. Von Willebrand factor mediates the adhesion of platelets to the collagen exposed on endothelial cell surfaces.|HPO|N|
C4023026|Any structural anomaly of megakaryocytes. Mature blood platelets are released from the cytoplasm of megakaryocytes, which are bone-marrow resident cells.|HPO|N|
C4023031|An anomaly of cells involved in the formation of a granulocytes, that is, of the granulocytopoietic cell.|HPO|N|
C4023033|A deviation from the normal count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow.|HPO|N|
C4023035|Death of cells in the basal ganglia. This finding can be confirmed by autopsy. It can be suspected with hyperintensities within the basal ganglia on FLAIR and T2-sequences on magnetic resonance imaging.|HPO|N|
C4023036|Deviation from normal concentration of albumin in the blood.|HPO|N|
C4023037|An abnormality of the concentration of corticosterone in the blood.|HPO|N|
C4023038|An abnormality of the concentration of a glucocorticoid in the blood.|HPO|N|
C4023039|Disproportionate shortening of the proximal segment of the leg (i.e. the femur).|HPO|N|
C4023040|Atrophy of the occipital cortex.|HPO|N|
C4023041|Atrophy of the parietal cortex.|HPO|N|
C4023042|An anomaly of the mitochondrion, the membranous cytoplasmic organelle the interior of which is subdivided by cristae. The mitochondrion is a self replicating organelle that is the site of tissue respiration.|HPO|N|
C4023043|A deviation from the normal number of mitochondria per cell.|HPO|N|
C4023044|A congenital inclusion cysts that arises from the inclusion of ectodermally committed cells at the time of neural tube closure (3rd-5th week of embryogenesis). The capsule of dermoid cysts consists of simple epithelium supported by collagen. In thicker parts, the lining is supplemented with dermis containing hair follicles, sebaceous glands, and apocrine glands.|HPO|N|
C4023045|A congenital inclusion cysts that arises from ectodermal cells that normally form skin cells being left behind in the nervous system during development.|HPO|N|
C4023046|A deviation from the normal size of the pancreas.|HPO|N|
C4023047|A function abnormality of the endocrine pancreas.|HPO|N|
C4023048|An anomaly of the function of the pancreas.|HPO|N|
C4023050|An anomaly in the surface contour of mitochondria.|HPO|N|
C4023051|Any abnormality of the size of the skeletal muscle cell.|HPO|N|
C4023052|Nuclear or cytoplasmic aggregates that show positive staining with antibodies against ubiquitin within cells of the brain.|HPO|N|
C4023053|Atrophy of the cerebellum affecting primarily the Purkinje cell layer.|HPO|N|
C4023054|Atrophy of the cerebellum affecting primarily the granular cell layer.|HPO|N|
C4023055|Any anomaly of the conduction of motor nerve impulses in the central nervous system.|HPO|N|
C4023056|Blockade of impulses at a focal site along the course of a motor axon.|HPO|N|
C4023057|An abnormal distribution of N-acylglycines in the urine. There are numerous different N-acylglycines, and this term refers to pathological alterations in their level or distribution.|HPO|N|
C4023059|An increased concentration of chondroitin sulfate (CHEBI:37397) in the urine.|HPO|N|
C4023060|An increased concentration of keratan sulfate in the urine.|HPO|N|
C4023061|Increased excretion of glycopeptides in the urine. Glycopeptides are peptides with carbohydrate moieties covalently attached to the side chains of the amino acid residues.|HPO|N|
C4023062|Increased concentration of disaccharide in the urine.|HPO|N|
C4023063|Presence of multiple cystic changes in multiple areas or multiple bones.|HPO|N|
C4023064|A reduced concentration of calcifediol in the blood. Calcifediol is also known as calcidiol, 25-hydroxycholecalciferol and 25-Hydroxyvitamin D3.|HPO|N|
C4023065|A reduced concentration of calcitriol in the blood. Calcitriol is also known as 1,25-dihydroxycholecalciferol or 1,25-dihydroxyvitamin D3.|HPO|N|
C4023066|Wasting of the pectoral muscles, i.e., of the pectoralis major and pectoralis minor.|HPO|N|
C4023067|Wasting of the sternocleidomastoid muscle, the muscle in the anterior part of the neck that acts to flex and rotate the head.|HPO|N|
C4023068|Abnormally increased concentration of cortisol in the urine.|HPO|N|
C4023069|An abnormal concentration of a hormone in the urine.|HPO|N|
C4023070|Deviation from the normal concentration of ornithine in the blood circulation.|HPO|N|
C4023071|Elevated concentration of galactose in the blood.|HPO|N|
C4023072|Persistence of blood flow through the ductus venosus for longer than the normal time after birth.|HPO|N|
C4023073|EEG with focal sharp transient waves of a duration less than 80 msec in the temporal region.|HPO|N|
C4023074|EEG with focal sharp transient waves of a duration less than 80 msec in the parietal region.|HPO|N|
C4023075|EEG with focal sharp transient waves of a duration less than 80 msec in the occipital region.|HPO|N|
C4023076|EEG with focal sharp transient waves of a duration less than 80 msec in the frontal region.|HPO|N|
C4023077|EEG with focal sharp transient waves of a duration less than 80 msec in the central region.|HPO|N|
C4023078|EEG with focal sharp transient waves in the temporal region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave.|HPO|N|
C4023079|EEG with focal sharp transient waves in the parietal region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave.|HPO|N|
C4023080|EEG with focal sharp transient waves in the occipital region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave.|HPO|N|
C4023081|EEG with focal sharp transient waves in the frontal region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave.|HPO|N|
C4023082|EEG with focal sharp transient waves in the central region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave.|HPO|N|
C4023083|A focal cognitive seizure characterized by an alteration of actual perception involving visual, auditory, somatosensory, olfactory, and/or gustatory phenomena as the initial semiological manifestation.|HPO|N|
C4023084|A focal cognitive seizure characterized by hallucination as the initial semiological manifestation.|HPO|N|
C4023085|A focal cognitive seizure characterized by memory phenomena such as feelings of familiarity (deja vu) and unfamiliarity (jamais vu) as the initial semiological manifestation.|HPO|N|
C4023087|Affective, mnemonic or composite perceptual auras with subjective qualities similar to those experienced in life but are recognized by the subject as occurring outside of actual context.|HPO|N|
C4023088|EEG with repetitive generalized sharp transient waves of a duration less than 80 msec.|HPO|N|
C4023089|Abnormally increased level of blood lactate following a meal.|HPO|N|
C4023090|A reduction in the ability of neutrophils to kill bacteria.|HPO|N|
C4023091|An abnormal form or size of neutrophils.|HPO|N|
C4023093|A functional abnormality of neutrophils.|HPO|N|
C4023094|Formation of abnormal bony tissue within ligament tissue.|HPO|N|
C4023095|Formation of abnormal bony tissue within tendon tissue.|HPO|N|
C4023096|Formation of abnormal bony tissue within muscle tissue.|HPO|N|
C4023097|A type of pigment gallstone that is brown, containing calcium fatty acids. These stones are softer than black pigment gallstones.|HPO|N|
C4023098|A type of pigment gallstone that is hard and black, containing calcium carbonate and calcium phosphates.|HPO|N|
C4023099|The concentration of dopamine in the urine, normalized for urine concentration, is above the upper limit of normal.|HPO|N|
C4023100|Partial or complete loss of hearing following ingestion of aminoglycoside antibiotics.|HPO|N|
C4023101|An elevated concentration of luteinizing hormone in the blood.|HPO|N|
C4023102|An increased concentration of citrulline in the blood.|HPO|N|
C4023104|History of repeated intermittent involuntary muscle contractions that were painful.|HPO|N|
C4023105|Absence of any measurable level of sperm in his semen, due to a hypothalamic or pituitary abnormality diagnosed with hypo-gonadotropic-hypogonadism. The diagnosis is made on the basis of low LH and FSH levels and low or normal testosterone levels.|HPO|N|
C4023106|Absence of any measurable level of sperm in his semen, resulting from post-testicular obstruction or retrograde ejaculation. This can be differentiated from obstructive azoospermia on the basis of testicular biopsy.|HPO|N|
C4023107|Hypoplasia (underdevelopment) of the pectoralis minor on only one side of the chest.|HPO|N|
C4023108|An abnormality of the pectoral muscle, comprising the pectoralis major, a thick, fan-shaped muscle of the anterior chest and the pectoralis minor, a thin, triangular muscle situated underneath the pectoralis major.|HPO|N|
C4023109|A lymphoproliferative abnormality of the intestine characterized by numerous visible mucosal nodules measuring up to, and rarely exceeding, 0.5 cm in diameter Histologically, hyperplastic lymphoid follicles with large germinal centers are seen in the lamina propria and superficial submucosa. There is enlargement of the mucosal B cell follicles caused by hyperplasia of the follicle centers; surrounded by a normal appearing mantle zone. Disease may involve the stomach, the entire small intestine, and the large intestine.|HPO|N|
C4023110|The presence of multiple granulomas in the liver as based on pathological examination. Granulomas are small 0.5 to 2 mm collections of modified macrophages called epithelioid cells usually surrounded by lymphocytes.|HPO|N|
C4023111|An acute episode of pneumonia due to the aspiration (breathing in) of food, liquid, or gastric contents into the upper respiratory tract.|HPO|N|
C4023112|Acute inflammation of the lung due to an infection.|HPO|N|
C4023113|A type of vasculitis (inflammation of blood vessel walls) that affects blood vessels that are smaller than arteries, i.e., arterioles, venules, and capilllaries.|HPO|N|
C4023114|An abnormality of the shape of the lumbar vertebra L2 such that it is wedge-shaped (narrow towards the front).|HPO|N|
C4023115|A soft tissue continuity in the A/P axis between fingers 3 and 4.|HPO|N|
C4023116|Underdeveloped nails of the fifth toes.|HPO|N|
C4023117|A decreased concentration of total carnitine in the blood.|HPO|N|
C4023118|Decreased concentration of urate in the urine.|HPO|N|
C4023120|An anomaly of the superior cerebellar peduncle.|HPO|N|
C4023121|An anomaly of the cerebellar peduncles. The superior, middle, and inferior cerebellar peduncles emerge from the cerebellum. The superior cerebellar penduncles connect the cerebellum to the midbrain, the middle cerebellar peduncles connect the cerebellum to the pons, and the inferior cerebellar peduncle connects the medulla spinalis and medulla oblongata with the cerebellum.|HPO|N|
C4023122|Presence of an additional phalanx-like bone, producing an extra, wedge-shaped bone at the base of the proximal phalanx of the third finger.|HPO|N|
C4023123|Developmental hypoplasia (shortening) of proximal phalanx of toe.|HPO|N|
C4023124|One or more digit that appears disproportionately short compared to the hand/foot, whereby either the entire digit or a specific phalanx is shortened.|HPO|N|
C4023125|A reduction in the activity of the mitochondrial proton-transporting ATP synthase complex, which makes ATP via oxidative phosphorylation, and is sometimes described as Complex V of the electron transport chain.|HPO|N|
C4023126|An increased or decreased activity of the mitochondrial respiratory chain.|HPO|N|
C4023127|Atrophy of the extensor digitorum longus muscles, which mediate extension of the toes.|HPO|N|
C4023128|Abnormal calcification in the cardiovascular system.|HPO|N|
C4023129|Excessive, increased hair growth located in the thoracic region.|HPO|N|
C4023130|Excessive, increased hair growth located in the lumbar region.|HPO|N|
C4023131|An anomaly of the glenoid fossa, also known as the glenoid cavity, which is the articular surface of the scapula that articulates with the head of the humerus.|HPO|N|
C4023132|An anomaly of a metacarpophalangeal joint.|HPO|N|
C4023133|Abnormal reduction in length affecting all phalanges.|HPO|N|
C4023134|Abnormally flat shape of the heads of the metacarpal bones.|HPO|N|
C4023135|Missing radius bone on one side only associated with congenital failure of development.|HPO|N|
C4023136|A reduction in the ratio of production of alpha globin to that of beta globin. This is the major abnormality in the various forms of alpha thalassemia.|HPO|N|
C4023137|A reduction in the ratio of production of beta globin to that of alpha globin. This is the major abnormality in the various forms of beta thalassemia.|HPO|N|
C4023138|Hemoglobin A (HbA) contains two globin alpha chains and two globin beta chains. HbA is normally the main adult hemoglobin, representing about 96-98 percent of all hemoglobin. This term represents a decreased in the proportion of HbA below this limit, and can be seen in various forms of thalassemia.|HPO|N|
C4023139|An abnormality of the level of activity of circulating fibrinogen.|HPO|N|
C4023141|Abnormal response to thromboxane as manifested by reduced or lacking aggregation of platelets upon addition of thromboxane A2 receptor agonists.|HPO|N|
C4023142|Prolonged or protracted bleeding following an invasive procedure or intervention.|HPO|N|
C4023143|Significant bleeding or hemorrhage without significant precipitating factor.|HPO|N|
C4023144|Bleeding sufficiently severe as to require red cell transfusion (WHO Grade 3 or 4).|HPO|N|
C4023145|Abnormal bleeding of the umbilical stump following separation of the cord at approximately 7-10 days after birth.|HPO|N|
C4023146|An anomaly of alpha or dense granules or platelet lysosomes.|HPO|N|
C4023147|Decreased cell membrane concentration of P2Y12 receptor.|HPO|N|
C4023148|Decreased cell membrane concentration of glycoprotein VI.|HPO|N|
C4023149|An acute form of disseminated intravascular coagulation. Acute DIC can occur following sudden exposure of blood to procoagulants, with the compensatory hemostatic mechanisms becoming overwhelmed.|HPO|N|
C4023150|Decreased cell membrane concentration of the glycoprotein complex Ib-IX-V.|HPO|N|
C4023151|Presence of reduced amount of a membrane protein on the cell membrane of platelets. This feature is typically measured by flow cytometry.|HPO|N|
C4023152|Anomalous size of platelets. Most normal sized platelets are 1.5 to 3 micrometers in diameter. Large platelets are 4 to 7 micrometers. Giant platelets are larger than 7 micrometers and usually 10 to 20 micrometers.|HPO|N|
C4023153|Abnormal response to thrombin or thrombin mimetics as manifested by reduced or lacking aggregation of platelets upon addition of thrombin (or thrombin mimetics).|HPO|N|
C4023154|Abnormal response to ristocetin as manifested by reduced or lacking aggregation of platelets upon addition of ristocetin.|HPO|N|
C4023155|Abnormal response to arachidonic acid as manifested by reduced or lacking aggregation of platelets upon addition of arachidonic acid.|HPO|N|
C4023156|An anomaly of the ilium ala. This is the large expanded portion of the ilum which bounds the greater pelvis laterally.|HPO|N|
C4023157|An abnormally increased diphosphate(4-) concentration in the blood. Diphosphate(4-), as ester with two phosphate groups, is also known as pyrophosphate.|HPO|N|
C4023158|Any structural anomaly of the connective tissue bundles in the extracellular matrix of bone tissue that are composed of collagen, and play a role in tissue strength and elasticity.|HPO|N|
C4023159|Decreased activity of coagulation factor IX. Factor IX, which itself is activated by factor Xa or factor VIIa to form factor IXa, activates factor X into factor Xa.|HPO|N|
C4023160|Accumulation of serous fluid (pale yellow and transparent fluid) in the pericardial sac.|HPO|N|
C4023161|Any anomaly in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance.|HPO|N|
C4023162|Short (hypoplastic) second metatarsal bone.|HPO|N|
C4023163|An abnormality of the appendicular skeletal system, consisting of the of the limbs, shoulder and pelvic girdles.|HPO|N|
C4023165|An abnormality of the form, structure, or size of the skeletal system.|HPO|N|
C4023166|A functional anomaly of T cells.|HPO|N|
C4023167|Detectable but decreased IgA levels that are more than 2 standard deviations below normal age-adjusted means.|HPO|N|
C4023168|Delayed maturation and calcification of the talus.|HPO|N|
C4023169|A noninflammatory, progressive occlusion of the intracranial carotid arteries owing to the formation of netlike collateral arteries arising from the circle of Willis.|HPO|N|
C4023170|Abnormality of the oral mucosa.|HPO|N|
C4023171|Horizontal crease or fold situated below the vermilion border of the lower lip and above the fatty pad of the chin, with the face at rest.|HPO|N|
C4023172|Increased width of the midpoint of the mandible (mental protuberance) and overlying soft tissue.|HPO|N|
C4023174|Absence of the normal opening of the choana (the posterior nasal aperture) as a result of an obstructing choanal membrane that may be thin and strandlike or thick and pluglike.|HPO|N|
C4023175|A cleft of the muscular (soft) portion of the palate that is covered by mucous membrane. Soft-palate submucous clefts are characterized by a midline deficiency or lack of muscle tissue.|HPO|N|
C4023176|Basal encephalocele is an encephalocele that occurs along the cribriform plate or through the sphenoid bone. The mass may appear in the nasal cavity, nasopharynx, epipharynx, sphenoid sinus, posterior orbit, or pterygopalatine fossa. The important distinction from other types is that no external tumor is visible except in those rare instances of herniations so large that they protrude through the mouth or nares.|HPO|N|
C4023177|Lipofuscin (age pigment) is a brown-yellow, electron-dense, autofluorescent material that accumulates progressively over time in lysosomes of postmitotic cells, such as neurons and cardiac myocytes. This term pertains if there is an increase in the accumulation of lipofuscin (also known as autofluorescent lipoprotein) more than expected for the age of the patient.|HPO|N|
C4023178|A reduced ability to distinguish tactile sensations at points that are very close to one another. This can be tested by using special calipers whose points can be set from 2mm to several centimeters apart.|HPO|N|
C4023179|A type of myotonia that worsens with repeated muscle contractions.|HPO|N|
C4023180|Atrophy (wasting) affecting primary type 1 muscle fibers. This feature in general can only be observed on muscle biopsy.|HPO|N|
C4023181|A structural abnormality of a skeletal muscle.|HPO|N|
C4023182|A functional abnormality of a skeletal muscle.|HPO|N|
C4023184|The presence of an embryonal neoplasm of the kidney that primarily affects children.|HPO|N|
C4023185|Neoplasm categorized according to the anatomical site of origin of the neoplasm.|HPO|N|
C4023186|Neoplasm categorized according to type of histological abnormality.|HPO|N|
C4023187|Loss-of-function thyroid-stimulating hormone receptor (TSHR) defect.|HPO|N|
C4023188|Gain-of-function thyroid-stimulating hormone receptor (TSHR) defect.|HPO|N|
C4023189|Reduced sensitivity of thyroid follicle cells to stimulation by biologically active thyroid-stimulating hormone (TSH).|HPO|N|
C4023190|Absence of a lobe of the thyroid gland related to a failure of its embryologic development.|HPO|N|
C4023195|A structural abnormality of the thyroid gland.|HPO|N|
C4023196|An abnormal anatomical location of the parathyroid gland.|HPO|N|
C4023197|Abnormal embryonic development of the parathyroid gland.|HPO|N|
C4023198|A functional abnormality of the parathyroid gland.|HPO|N|
C4023199|A structural abnormality of the parathyroid gland.|HPO|N|
C4023200|A spindled-to-epithelioid, oncocytic, nonendocrine neoplasm of the anterior hypophysis that manifests in adults and follows a benign clinical course. Pituitary spindle cell oncocytomas are firm, fibrous, and adherent to surrounding structures and are highly vascular.|HPO|N|
C4023202|Underdevelopment of the neurohypophysis.|HPO|N|
C4023203|Absence of the neurohypophysis owing to a developmental defect.|HPO|N|
C4023204|An abnormality of the neurohypophysis, which is also known as the posterior lobe of the hypophysis.|HPO|N|
C4023205|A tumor (abnormal growth of tissue) of the adenohypophysis, which is also known as the anterior lobe of the pituitary gland.|HPO|N|
C4023206|An abnormality of the adenohypophysis, which is also known as the anterior lobe of the pituitary gland.|HPO|N|
C4023207|Hypercortisolemia associated with a overproduction of ACTH (often from a tumor), leading secondarily to overproduction of cortisol.|HPO|N|
C4023208|A form of primary hyperaldosteronism in which the overproduction of aldosterone cannot be suppressed by the administration of dexamethasone or similar glucocorticoids.|HPO|N|
C4023209|A form of primary hyperaldosteronism in which the overproduction of aldosterone can be suppressed by the administration of dexamethasone.|HPO|N|
C4023210|Adrenal insufficiency secondary to a defect in the corticotropin-releasing hormone receptor.|HPO|N|
C4023211|Adrenal insufficiency secondary to a defect in ACTH production.|HPO|N|
C4023212|A functional abnormality of the adrenal glands.|HPO|N|
C4023213|Any structural anomaly of the adrenal glands.|HPO|N|
C4023214|An abnormality of the concentration of cortisol in the blood.|HPO|N|
C4023215|An abnormality of sensation related to CNS function. Assuming the primary sensory modalities are intact and the patient is alert and cooperative, the presence of an abnormality of sensory function may indicate a lesion of a parietal cortex, the thalamocortical projections to the parietal cortex, or the spinal cord.|HPO|N|
C4023216|An abnormality in the range and ease of motion of joints across their normal range.|HPO|N|
C4023217|Clonus at the elbow joint, i.e., an exaggerated phasic stretch reflex characterized by repetitive, rhythmic contractions at the elbow, generated by rapid passive stretch at the elbow joint.|HPO|N|
C4023219|Defect or defects of the morphogenesis of the right heart identifiable at birth.|HPO|N|
C4023221|Libman-Sacks valvular lesions are sterile fibrofibrinous vegetations that favor the left-sided heart valves and usually form on the ventricular surface of the mitral valve.|HPO|N|
C4023222|An abnormality of the sinoatrial (SA) node in the right atrium. THe SA node acts as the pacemaker of the heart.|HPO|N|
C4023231|Supraventricular tachycardia with an accessory connection mediated pathway that is called concealed becasue it is not seen on the ECG during sinus rhythm.|HPO|N|
C4023232|The superior vena cava passes below the aortic arch.|HPO|N|
C4023234|A type of tetralogy of Fallot with pulmonary atresia in which all pulmonary blood flow is derived from major aortopulmonary collateral arteries (MAPCA).|HPO|N|
C4023237|Interrupted inferior vena cava with azygous continuation is the result of connection failure between the right subcardinal vein and the right vitelline vein. Consequently, venous blood from the caudal part of the body reaches the heart via the azygous vein and superior vena cava.|HPO|N|
C4023238|A persistent left superior vena cava (PLSVC) that drains into the left atrium instead of the right atrium via the coronary sinus, resulting in a right to left sided shunt.|HPO|N|
C4023242|A double outlet right ventricle with a ventricular spetal defect (a hole between the two bottom chambers (ventricles) of the heart), that is considered to be closely related to the pulmonary origin. There is associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches.|HPO|N|
C4023243|A double outlet right ventricle with a ventricular spetal defect (a hole between the two bottom chambers (ventricles) of the heart), that is considered to be closely related to the aortic origin. There is not associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches.|HPO|N|
C4023244|A double outlet right ventricle with a ventricular spetal defect (a hole between the two bottom chambers (ventricles) of the heart), that is considered to be closely related to the aortic origin. There is associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches.|HPO|N|
C4023245|A double outlet right ventricle with a non-committed ventricular septal defect (VSD), which is a VSD that is anatomically related to, or close to, neither great vessel, being separated from both by considerable muscle, but there is not accompanying pulmonary stenosis; the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches.|HPO|N|
C4023246|A double outlet right ventricle with a non-committed ventricular septal defect (VSD), which is a VSD that is anatomically related to, or close to, neither great vessel, being separated from both by considerable muscle, and also has a pulmonary stenosis; abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches.|HPO|N|
C4023247|A double outlet right ventricle with a subaortic ventritricular septal defect (a hole between the two bottom chambers (ventricles) of the heart), that extends anterosuperiorly and are closely related to the pulmonary artery as well, are considered to be doubly committed. There is not associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches.|HPO|N|
C4023248|Abnormal persistent patency of the ductus arteriosus when birth was at less than 37 weeks completed gestation.|HPO|N|
C4023249|Abnormal persistent patency of the ductus arteriosus in postnatal life when birth was at 37 completed weeks of gestation or greater.|HPO|N|
C4023250|Narrowing or constriction of the aorta localized at the insertion of the ductus arteriosus, i.e., to the juxtaductal region of aortic arch.|HPO|N|
C4023251|The presence of a single coronary artery ostium from which both coronary arteries arise.|HPO|N|
C4023252|A coronary artery begins (branches off from) the pulmonary artery rather than as normal from the root of the aorta.|HPO|N|
C4023253|Isolated abnormalities of the coronary artery origins. This may be in associated with other structural heart malformations but not the patterns of complex structural heart malformations which result in abnormal course of the coronary arteries.|HPO|N|
C4023254|Lack of a part of the pericardium over the diaphragmatic surface of the heart. It is a congenital defect, not the result of a pericardectomy. Pericardium is present on other parts of the heart.|HPO|N|
C4023255|A congenital anomaly with lack of part of the pericardium on the lefthand side of the heart.|HPO|N|
C4023256|A congenital anomaly with complete lack of the pericardium on the lefthand side of the heart.|HPO|N|
C4023257|A congenital anomaly with lack of part of the pericardium on the righthand side of the heart.|HPO|N|
C4023258|No pericardium is present on the righthand side of the heart. It is a congenital absence of pericardium rather than the result of a pericardectomy.|HPO|N|
C4023259|No pericardium over the diaphragmatic surface of the heart. It is a congenital defect, not the result of a pericardectomy. Pericardium is present on other parts of the heart.|HPO|N|
C4023261|A developmental defect of the pericardium with congenital onset.|HPO|N|
C4023262|Aorto-ventricular tunnel is a congenital, extracardiac channel which connects the ascending aorta above the sinotubular junction to the cavity of the left, or (less commonly) right ventricle.|HPO|N|
C4023263|A type of muscular ventricular septal defect characterized by the presence of multiple small defects in the ventricular septum.|HPO|N|
C4023264|A muscular ventricular septal defect located at the apex of the heart.|HPO|N|
C4023265|A type of ventricular septal defect communicating directly between the left ventricle and right atrium. This is anatomically possible because the normal tricuspid valve is more apically displaced than the mitral valve.|HPO|N|
C4023266|An abnormality of the abdominal situs, i.e., of the sidedness of the abdomen and its organs.|HPO|N|
C4023267|An abnormality of the pulmonary situs, i.e., of the sidedness of the morphological right and left lungs, in which both lungs have the morphology of a left lung.|HPO|N|
C4023268|An abnormality of the pulmonary situs, i.e., of the sidedness of the morphological right and left lungs, in which both lungs have the morphology of a right lung.|HPO|N|
C4023269|An abnormality of the pulmonary situs, i.e., of the sidedness of the morphological right and left lungs, in which the morphology of both left and right lungs is the same.|HPO|N|
C4023270|Mirror image arrangement of the mainstem bronchi with the right pulmonary artery posterior to the right upper lobe bronchus and the left pulmonary artery anterior to the left upper lobe bronchus.|HPO|N|
C4023271|An abnormality of the pulmonary situs, i.e., of the sidedness of the morphological right and left lungs, which is defined by characteristics such as the number of lobes per lung and the relationship of the pulmonary arteries to their bronchi.|HPO|N|
C4023272|A congenitally corrected transposition of the great arteries with a ventricular septal defect|HPO|N|
C4023273|Abnormal plane of direction of the heart from the base to the apex in the midline. Left sided is normal.|HPO|N|
C4023274|Abnormal plane of direction of the heart from the base to the apex towards the right. Left sided is normal.|HPO|N|
C4023275|Abnormal plane of direction of the heart from the base to the apex. Left sided is normal.|HPO|N|
C4023277|The ring may be completed by the ductal ligament.|HPO|N|
C4023278|Aortic arch crosses the left mainstem bronchus. The first branch is the right carotid artery, the second branch is the left carotid artery, the third branch is the subclavian artery, the fourth branch is the right subclavian artery arising from the posteromedial aspect of the distal aortic arch and continuing posterior to the esophagus to the right hand side of the body.|HPO|N|
C4023279|Aortic arch crosses the right mainstem bronchus. The left carotid artery is the first branch, right carotid artery the second branch and right subclavian artery as the third branch.|HPO|N|
C4023280|The subclavian artery arises from ductus arteriosus. While the ductus arteriosus is patent its blood supply comes from the ductus, hence from the pulmonary artery. After it closes, the blood supply is retrogradely from the vertebral artery via the circle of Willis.|HPO|N|
C4023282|A deviance from the norm of the origin or course of the right brachiocephalic artery, the left common carotid artery, the left subclavian artery or the proximal vertebral arteries.|HPO|N|
C4023283|Congenital malformation of the ventral wall with partial or total evisceration of the heart outside the thoracic cavity and displacement partially into the abdominal cavity.|HPO|N|
C4023284|Congenital malformation of the thoracic wall with partial or total displacement of the heart outside the thoracic cavity. This feature is associated with sternal cleft or absence of the sternum.|HPO|N|
C4023285|A type of ectopia cordis with the heart partially in the cervical region with a defect of the superior portion of the sternum.|HPO|N|
C4023286|A type of ectopia cordis with the heart partially in the cervical region and without a defect of the sternum.|HPO|N|
C4023287|Displacement of the heart outside the thoracic cavity and into the abdomen.|HPO|N|
C4023288|Abnormally short chordae tendineae of the mitral valve.|HPO|N|
C4023289|A specific combination of heart defects with a primum atrial septal defect, cleft anterior mitral valve leaflet, and an inlet ventricular septal defect. There are two valve annuli and two valve orifices.|HPO|N|
C4023290|A specific combination of heart defects including a primum atrial septal defect and cleft anterior mitral valve leaflet. There is not an inlet ventricular septal defect present. There are two valve annuluses and two valve orifices.|HPO|N|
C4023291|A specific combination of heart defects with a primum atrial septal defect, cleft anterior mitral valve leaflet, and inlet ventricular defect. There is one valve annulus and two valve orifices.|HPO|N|
C4023292|A tricuspid valve that has failed to open.|HPO|N|
C4023293|An atrioventricular valve that has failed to open (atretic).|HPO|N|
C4023295|Cleft in the anterior mitral valve leaflet not associated with an atrioventricular canal defect.|HPO|N|
C4023297|Anomalous insertion of the chordae tendinae or papillary muscles into the contralateral ventricle in the presence of a ventricular septum defect.|HPO|N|
C4023298|An atrioventricular valve that empties into both ventricles. The valve overrides the interventricular septum above a ventricular septum defect.|HPO|N|
C4023301|The condition in which both atria are joined to a single ventricle each by its own atrioventricular valve. The morphology of this ventricle does not allow one to determine if it corresponds to the left or right ventricle.|HPO|N|
C4023302|The condition in which both atria are joined to a single ventricle each by its own atrioventricular valve.|HPO|N|
C4023306|A deviance in the normal connections between two cardiac segements.|HPO|N|
C4023309|Criss-cross atrioventricular valves with a rare cardiac malformation characterized by the two ventricles lying one above the other instead of side by side.|HPO|N|
C4023310|Crossing of the inflow streams of the two ventricles, due to an apparent twisting of the heart about its long axis.|HPO|N|
C4023312|Mirror image atrial arrangement, with morphologic right atrium on the left hand side and morphologic left atrium on the right hand side.|HPO|N|
C4023313|Abnormality of the spatial relationship of the cardiac segments to other components of the heart.|HPO|N|
C4023314|An abnormal shape of the lens.|HPO|N|
C4023316|Individuals with anomalous trichromacy possess three types of cones, but one of the three types of cones has an abnormal spectral sensitivity compared to normal cones.|HPO|N|
C4023317|Individuals affected by dichromacy possess only two types of cones, instead of three.|HPO|N|
C4023318|The condition of having both rods and cones, but only a single kind of cone. Affected individuals have good pattern vision in daylight, but cannot distinguish between colors.|HPO|N|
C4023319|Inability to make fine depth discriminations from parallax provided by the two eyes' different positions on the head.|HPO|N|
C4023320|An abnormality of binocular vision, that is of the ability to synthesize the visual inputs from both eyes to a single image with perception of depth.|HPO|N|
C4023321|Splitting of the retina in the macular region.|HPO|N|
C4023322|Pale often indistinct lesions of the macula.|HPO|N|
C4023324|Congenital absence of the fovea.|HPO|N|
C4023326|Abnormality of the corneal epithelium, that is of the epithelial tissue that covers the front of the cornea.|HPO|N|
C4023327|Reduced transparency of the central portion of the corneal stroma.|HPO|N|
C4023328|An abnormality of the stroma of cornea, also known as the substantia propria of cornea.|HPO|N|
C4023329|A reduction in the number of corneal endothelial cells.|HPO|N|
C4023330|Abnormality of Descemet's membrane, which is the basement membrane of the corneal endothelium.|HPO|N|
C4023331|Abnormal migration of corneal endothelium.|HPO|N|
C4023332|Abnormality of the corneal endothelium, that is, the single layer of cells on the inner surface of the cornea.|HPO|N|
C4023333|An abnormal anteroposterior thickness of the cornea.|HPO|N|
C4023334|Developmental abnormality in which the lens and cornea are not separated.|HPO|N|
C4023336|Abnormality of the lacrimal gland, i.e., of the almond-shaped gland that secretes the aqueous layer of the tear film for each eye.|HPO|N|
C4023337|An abnormality of the lacrimal punctum, an opening on the eyelid close to the medial canthus that drains tears from the conjunctival sac into the lacrimal duct in the same eyelid.|HPO|N|
C4023338|Complete loss of hearing related to a sensorineural defect.|HPO|N|
C4023339|Persistence of the stapedial artery, which normally regresses during embryonic life.|HPO|N|
C4023340|Sensorineural hearing impairment with childhood onset.|HPO|N|
C4023342|Feeding problem necessitating gastrostomy tube feeding.|HPO|N|
C4023343|Feeding problem necessitating nasogastric tube feeding.|HPO|N|
C4023344|Absence or underdevelopment of the gallbladder.|HPO|N|
C4023345|A lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) affecting the duodenum.|HPO|N|
C4023346|A lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) affecting the small intestine.|HPO|N|
C4023349|An abnormality of the malleus, an ossicle in the middle ear.|HPO|N|
C4023350|An abnormality of the incus, an ossicle in the middle ear.|HPO|N|
C4023351|Hyposegmented (hypolobulated) or bilobed neutrophil nuclei.|HPO|N|
C4023352|Cognitive, psychiatric, or memory anomaly.|HPO|N|
C4023354|An anomaly of the control or production of movement in the central nervous system.|HPO|N|
C4023355|Rhabdomyolysis induced by intake of alcohol.|HPO|N|
C4023356|Rhabdomyolysis induced by anesthesia.|HPO|N|
C4023357|A medical history of exposure of the mother of a child or fetus to a teratogenic substance during pregnancy.|HPO|N|
C4023358|A medical history of a fetus or child born to a mother with an autoimmune disease.|HPO|N|
C4023359|An abnormally elevated or decreased level of a maternal serum marker analytes used in screening for aneuploidy.|HPO|N|
C4023360|An abnormally low concentration of serum PAPP-A (pregnancy associated plasma protein A), as compared to normal values for gestational-age.|HPO|N|
C4023361|Increase in the levels of maternal serum alpha-fetoprotein levels during pregnancy.|HPO|N|
C4023362|Fifth finger clinodactyly is defined by a hypoplastic or absent mid-phalanx of the fifth digit. Ultrasound identification of the fetal hand must first be undertaken and then appropriate magnification accomplished. The evaluation requires stretching of the 5 fingers. The diagnosis is established when the middle phalanx of the fifth finger is markedly smaller than normal or absent, which often causes the finger to be curved inward (PMID:16100637).|HPO|N|
C4023363|On prenatal ultrasound, the nasal bone is a thin echogenic line within the bridge of the fetal nose. The fetus is imaged facing the transducer with the fetal face strictly in the midline. The angle of insonation is 90 degrees, with the longitudinal axis of the nasal bone as the reference line. Calibres are placed at each end of the nasal bone. Absence of the nasal bone or measurements below 2.5th percentile are considered significant (PMID:16100637).|HPO|N|
C4023364|A short humerus length is defined as a length below the 2.5th percentile for gestational age or as a measurement less than 0.9 of that predicted by the measured biparietal diameter. The humerus should be measured with the bone perpendicular to the ultrasound beam and with epiphyseal cartilages visible but not included in the measurement (PMID:16100637).|HPO|N|
C4023365|The cisterna magna is measured on a transaxial view of the fetal head angled 15 degrees caudal to the canthomeatal line. The anterior/posterior diameter is taken between the inferior/posterior surface of the vermis of the cerebellum to the inner surface of the cranium. An enlarged cisternal magna is defined by an anterior/posterior diameter of 10 mm or more (PMID:16100637).|HPO|N|
C4023366|An finding upon obstetric ultrasound examination performed at around 16 to 20 weeks of gestation that is abnormal but not clearly identifiable as a fetal anatomic malformation or growth restriction. Such findings are known as soft markers since they are associated with increased risk for fetal aneuploidy or other disorders.|HPO|N|
C4023367|An abnormality of chloride homeostasis or concentration in the body.|HPO|N|
C4023369|Structural anomaly of the fetal membranes (also known as the amniochorionic or placental membranes), which comprise a vital intrauterine compartment, where they perform mechanical, immune, and endocrine functions to promote growth of the fetus and protection from environmental adversity. Amniochorionic membranes anatomically consist of a single layer of cuboidal amnion epithelial cells, chorionic trophoblasts, and scattered fibroblasts connected by a layer of type IV collagen-rich extracellular matrix.|HPO|N|
C4023370|Intrauterine growth retardation that is at least 3 standard deviations (SD) below average, but not as low as 4 SD, corrected for sex and gestational age.|HPO|N|
C4023373|Demyelination of peripheral sensory nerves.|HPO|N|
C4023374|Delayed myelination in the peripheral nervous system.|HPO|N|
C4023375|Wasting of the tibialis anterior muscle.|HPO|N|
C4023376|An abnormality of the dorsal columns, i.e., of the dorsal portion of the gray substance of the spinal cord. The dorsal column consists of the fasciculus gracilis and fasciculus cuneatus and itself is part of the dorsal funiculus.|HPO|N|
C4023377|Any anomaly of the cohclear nerve, which is the part of the vestibulocochlear nerve that is responsible for transmitting auditory signals from the inner ear to the cochlear nuclei within the brainstem and ultimately to the primary auditory cortex within the temporal lobe.|HPO|N|
C4023378|Absence or underdevelopment of the cochlea, a spiral shaped cavity in the inner ear, owing to a developmental defect.|HPO|N|
C4023381|A structural anomaly of the internal part of the ear.|HPO|N|
C4023382|An abnormality of the function of the inner ear.|HPO|N|
C4023383|Reduction in diameter of the internal auditory canal.|HPO|N|
C4023384|Aplasia of the internal auditory canal.|HPO|N|
C4023385|Absence of the semicircular canal.|HPO|N|
C4023386|An abnormality of the morphology of the semicircular canal.|HPO|N|
C4023387|Dilatation of the vestibule of the inner ear.|HPO|N|
C4023388|Underdevelopment of the vestibule of the inner ear.|HPO|N|
C4023389|Complete absence of the vestibule of the inner ear.|HPO|N|
C4023390|Absence of the cochlea, a spiral shaped cavity in the inner ear, owing to a developmental defect.|HPO|N|
C4023391|Incomplete partition I is also known as cystic cochleovestibular malformation, where the cochlea has no bony modiolus, resulting in an empty cystic cochlea. This is accompanied by a dilated cystic vestibule with developmental arrest at the fifth week of gestation.|HPO|N|
C4023392|Incomplete formation of the cochlear partition. The scala vestibuli and scala tympani separated by the cochlear partition, except in the apical turn where the two scalae are in continuity via the helicotrema.|HPO|N|
C4023393|Increased susceptibility to viral skin infections, as manifested by recurrent episodes of viral skin infections.|HPO|N|
C4023394|Increased susceptibility to cutaneous fungal infections, as manifested by recurrent episodes of cutaneous fungal infections.|HPO|N|
C4023395|Reduced pigmentation of hair in patches.|HPO|N|
C4023396|Hair whose growth rate deviates from the norm.|HPO|N|
C4023397|An abnormal amount of hair.|HPO|N|
C4023398|A congenital abnormality of the distribution of hair growth.|HPO|N|
C4023399|An abnormality of the distribution of hair growth that is acquired during the course of life.|HPO|N|
C4023400|Reduced pigmentation of hair diffusely.|HPO|N|
C4023402|An abnormality of the skin that is restricted to a particular body region.|HPO|N|
C4023403|Formation of excess fibrous connective tissue in the tunica intima (innermost layer) of arteries.|HPO|N|
C4023404|Any structural abnormality of the abducens nerve.|HPO|N|
C4023405|An abnormality involving the movement of the eye outwards.|HPO|N|
C4023406|An abnormality of the vermilion border, the sharp demarcation between the lip (red colored) and the adjacent normal skin.|HPO|N|
C4023407|An abnormality of the outline, configuration, or contour of the mouth.|HPO|N|
C4023409|Bilateral temporal scarlike defects, which are said to resemble forceps marks.|HPO|N|
C4023411|Unilateral underdevelopment of the facial tissues, including muscles and bones.|HPO|N|
C4023412|Any anomaly of a cranial suture, that is one of the six membrane-covered openings in the incompletely ossified skull of the fetus or newborn infant.|HPO|N|
C4023413|Asymmetry of the anterior part of the skull.|HPO|N|
C4023414|Premature synostosis of only the right lambdoid suture.|HPO|N|
C4023415|Premature synostosis of only the left lambdoid suture.|HPO|N|
C4023416|Unicoronal synostosis affecting only the right coronal suture.|HPO|N|
C4023417|Synostosis affecting only the left coronal suture.|HPO|N|
C4023418|Synostosis affecting only one of the coronal sutures.|HPO|N|
C4023419|A nail plate that has a longitudinal separation with partially separated nails, each with a separate lateral radius of curvature.|HPO|N|
C4023420|Extension of the proximal transverse crease (five finger crease) to the ulnar edge of the palm.|HPO|N|
C4023421|The contour of the foot in lateral profile has a convex shape.|HPO|N|
C4023422|For children from birth to 16 years of age the length of the palm is more than the 97th centile; or, the length of the palm appears relatively long compared to the finger length or the limb length.|HPO|N|
C4023423|The absence of a phalangeal segment of a finger.|HPO|N|
C4023424|A soft tissue prominence of the ventral aspects of the fingertips or toe tips.|HPO|N|
C4023425|EEG with sharp slow waves in the central region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave.|HPO|N|
C4023426|EEG with sharp slow waves in the frontal region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave.|HPO|N|
C4023427|EEG with sharp slow waves in the temporal region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave.|HPO|N|
C4023428|EEG with sharp slow waves in the parietal region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave.|HPO|N|
C4023429|EEG with sharp slow waves in the occipital region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave.|HPO|N|
C4023430|A type of aganglionic megacolon in which the aganglionic segment extends proximal to the sigmoid.|HPO|N|
C4023431|A type of aganglionic megacolon in which the aganglionic segment does not extend beyond the upper sigmoid.|HPO|N|
C4023432|An abnormality of the metencephalon. The metencephalon is the part of the hindbrain that consists of the pons and the cerebellum.|HPO|N|
C4023434|An abnormality of calcium concentration in the urine.|HPO|N|
C4023435|An abnormal amount of hydrogencarbonate in the urine.|HPO|N|
C4023436|A type of pulmonary sequestration that occurs within the visceral pleura of normal lung tissue, usually without communication with the tracheobronchial tree.|HPO|N|
C4023438|Increased susceptibility to mycobacterial infections, as manifested by recurrent episodes of mycobacterial infection.|HPO|N|
C4023439|Lack of convexity or prominence of the contour of the ridge between the bottom of the incisura and the confluence of the ascending helix and crus helix.|HPO|N|
C4023440|Discontinuity in the convexity of the inferior margin of the lobe.|HPO|N|
C4023441|A type of cryptotia associated with reduction in size of the antihelix and inferior crus that are affected.|HPO|N|
C4023442|A type of cryptotia associated with reduction in size of the antihelix and superior crus.|HPO|N|
C4023443|Absence of the anterosuperior prominence of the area between the bottom of the incisura and the inner margin of the antihelix.|HPO|N|
C4023444|Positioning of the antitragus at an angle perpendicular to the plane of the ear (oriented away from the plane of the ear).|HPO|N|
C4023445|An abnormality of the stem of the antihelix, which is the part below the bifurcation of the antihelix into the inferior and superior crura.|HPO|N|
C4023446|Antihelical ridge that forms an acute angle between the antitragus and its bifurcation (stem) instead of a gently curving arc.|HPO|N|
C4023447|Supernumerary ridge or crus of the ear arising from the antihelix.|HPO|N|
C4023448|No discernible ridge between concha and triangular fossa and helix.|HPO|N|
C4023449|Elevated ridge(s) of skin starting well below the medial aspect of the lower lid that curves gradually upward toward and/or across the nasal bridge.|HPO|N|
C4023450|Eyelashes that draw the attention of the viewer due to increased density and/or length and/or curl without meeting the criteria of trichomegaly.|HPO|N|
C4023451|An eyebrow that extends laterally beyond the orbital rim rather than turning gently downward at that location.|HPO|N|
C4023452|An abnormal elevation of the C-reactive protein level in the blood circulation.|HPO|N|
C4023453|Absence or underdevelopment of the eyelid.|HPO|N|
C4023454|Linear vertical groove in the midline of the forehead, extending from hairline to glabella.|HPO|N|
C4023455|Posterior positioning of the glabella, i.e., of the midline forehead between the supraorbital ridges.|HPO|N|
C4023456|Vertical soft tissue creases in the midline of the forehead, often extending from the hairline to the brow, and seen with facial expression or when the face is at rest.|HPO|N|
C4023457|Facial height (length) is more than two standard deviations below the mean (objective); or an apparent decrease in the height (length) of the face (subjective).|HPO|N|
C4023458|An abnormal shape of the frontal part of the head.|HPO|N|
C4023459|An abnormal shape of occiput.|HPO|N|
C4023460|Hypsarrhythmia occurring in one hemisphere.|HPO|N|
C4023461|Occurrence of generalized epileptiform discharges during photic stimulation.|HPO|N|
C4023462|Occurrence of epileptiform discharges in occipital, central, temporal and parietal regions during photic stimulation.|HPO|N|
C4023463|Occurence of epileptiform discharges in occipital and central regions during photic stimulation.|HPO|N|
C4023464|Occurrence of epileptiform discharges in occipital regions during photic stimulation.|HPO|N|
C4023465|Slowing in occipital areas of the scalp EEG.|HPO|N|
C4023466|Generalized slowing of EEG activity at frequencies between 0.5-3 Hz.|HPO|N|
C4023467|Generalized slowing of EEG activity at frequencies between 4-7 Hz.|HPO|N|
C4023468|Slowing at frequencies between 7.5 and 8.5 Hz.|HPO|N|
C4023469|Non-continuous diffuse slowing of electroencephalographic patterns.|HPO|N|
C4023470|EEG showing diffuse slowing without interruption.|HPO|N|
C4023471|EEG with abnormally slow frequencies.|HPO|N|
C4023472|EEG frequency is abnormally increased.|HPO|N|
C4023473|EEG with abnormal amplitude.|HPO|N|
C4023474|Generalized epileptiform discharges of different shapes and frequencies.|HPO|N|
C4023475|EEG with generalized sharp transient waves of a duration between 80 and 200 msec followed by a slow wave.|HPO|N|
C4023476|EEG discharges recorded on the entire scalp typically seen in persons with epilepsy.|HPO|N|
C4023477|EEG with focal sharp transient waves of a duration less than 80 msec followed by a slow wave.|HPO|N|
C4023478|EEG with focal sharp transient waves of a duration between 80 and 200 msec.|HPO|N|
C4023479|EEG with focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave.|HPO|N|
C4023480|Focal spikes occurring for several seconds.|HPO|N|
C4023481|EEG with focal sharp transient waves of a duration less than 80 msec.|HPO|N|
C4023482|Focal epileptiform discharges of different shapes and frequencies.|HPO|N|
C4023483|Epileptiform discharges being identified at multiple locations in one hemisphere.|HPO|N|
C4023484|Epileptiform discharges identified at multiple locations temporarily in both hemispheres and temporarily in one hemisphere.|HPO|N|
C4023485|Epileptiform discharges being identified at multiple locations in both hemispheres.|HPO|N|
C4023486|Focal EEG discharges that secondarily spread to both hemispheres and can then be recorded over the entire scalp.|HPO|N|
C4023487|Focal epileptiform discharges with spreading to the hemisphere on the same side of the brain.|HPO|N|
C4023488|Focal epileptiform discharges with spreading to contralateral hemisphere but without secondary generalization.|HPO|N|
C4023489|Generalized epileptiform discharges induced by hyperventilation (overbreathing) in cerebral electrical activity recorded along the scalp by electroencephalography (EEG).|HPO|N|
C4023490|Focal epileptiform discharges induced by hyperventilation (overbreathing) in cerebral electrical activity recorded along the scalp by electroencephalography (EEG).|HPO|N|
C4023491|Epileptiform activity refers to distinctive EEG waves or complexes distinguished from background activity found in in a proportion of human subjects with epilepsy, but which can also be found in subjects without seizures. Interictal epileptiform activity refers to such activity that occurs in the absence of a clinical or subclinical seizure.|HPO|N|
C4023492|EEG dominated by diffuse beta waves (>13 Hz) with occipitally localized alpha waves (8-13 Hz).|HPO|N|
C4023493|EEG dominated by diffuse beta-waves (>13 Hz).|HPO|N|
C4023494|EEG dominated by diffuse alpha-waves (8-13Hz).|HPO|N|
C4023495|EEG background activity at 4-5/second.|HPO|N|
C4023496|An EEG with constitutional variants contains waves that are rare or unusual but not generally pathologic.|HPO|N|
C4023497|A focal seizure characterized at onset by predominantly proximal limb or axial muscles producing irregular sequential ballistic movements, such as pedaling, pelvic thrusting, thrashing, rocking movements.|HPO|N|
C4023498|A type of focal non-motor seizure characterized by an arrest or pause of activities, freezing, or immobilization as the predominant semiological feature throughout the seizure.|HPO|N|
C4023499|Generalized clonic seizure is a type of generalized motor seizure characterized by sustained bilateral jerking, either symmetric or asymmetric, that is regularly repetitive and involves the same muscle groups.|HPO|N|
C4023501|A type of focal motor seizure characterized by sudden, brief (<100 ms) involuntary single or multiple contraction(s) of muscles(s) or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus.|HPO|N|
C4023506|A type of focal autonomic seizure characterized by symptoms or signs pertaining to the gastrointestinal system as the initial semiological feature.|HPO|N|
C4023509|An autonomic seizure is a type of focal non-motor seizure characterized by alteration of autonomic nervous system function as the initial semiological feature.|HPO|N|
C4023510|Typical absence seizures starting before the age of 4 years.|HPO|N|
C4023511|Atypical absence status epilepticus is a type of generalized non-convulsive status epilepticus without coma that is semiologically a prolonged atypical absence seizure.|HPO|N|
C4023512|Myoclonic absence seizure is a type of generalized non-motor (absence) seizure characterized by an interruption of ongoing activities, a blank stare and rhythmic three-per-second myoclonic movements, causing ratcheting abduction of the upper limbs leading to progressive arm elevation, and associated with 3 Hz generalized spike-wave discharges on the electroencephalogram. Duration is typically 10-60 s. Whilst impairment of consciousness may not be obvious the ILAE classified this seizure as a generalized non-motor seizure in 2017.|HPO|N|
C4023515|A dialeptic seizure is a type of seizure characterized predominantly by reduced responsiveness or awareness and with subsequent at least partial amnesia of the event.|HPO|N|
C4023516|A seizure that occurs in the context of a brain insult (systemic, toxic, or metabolic) and may not recur when the underlying cause has been removed or the acute phase has elapsed.|HPO|N|
C4023517|A type of age-related cataract consisting of granular opacities occurring mainly in the central posterior cortex just under the posterior capsule.|HPO|N|
C4023518|An abnormality of the skin adnexa (skin appendages), which are specialized skin structures located within the dermis and focally within the subcutaneous fatty tissue, comprising three histologically distinct structures|HPO|N|
C4023519|Pale reddish slightly elevated papules and plaques of 0.5-3 cm in diameter and not accompanied by pruritus.|HPO|N|
C4023520|Absence or developmental hypoplasia of the sweat glands.|HPO|N|
C4023521|A furuncle (boil) is a skin infection involving an entire hair follicle and nearby skin tissue. Chronic furunculosis refers to recurrent episodes of furuncles, often caused by recurrent staphylococcus infection.|HPO|N|
C4023522|Any abnormality of the morphology of the major calices or minor calices of the kidney.|HPO|N|
C4023523|A bilateral form of fetal pyelectasis.|HPO|N|
C4023524|A condition characterized by necrosis of the mucosal and submucosal layers of the esophagus not related to ingestion of caustic or other injurious agents. Endoscopically, there is a dark lesion ('black esophagus') distributed in a circumferential manner in the distal one-third of the esophagus with or without exudates. There is involvement of the distal esophagus ending sharply at the gastroesophageal junction.|HPO|N|
C4023525|An abnormality of the melanosomes, i.e., of the cellular organelles in which melanin pigments are synthesized and stored within melanocytes (the cells that produce pigment in the dermis).|HPO|N|
C4023526|An abnormality of the morphology of the epidermis.|HPO|N|
C4023527|Any abnormality of the physiological function of the skin.|HPO|N|
C4023528|Any morphological abnormality of the skin.|HPO|N|
C4023529|An abnormality in the production or cellular release of tumor necrosis factor.|HPO|N|
C4023530|The concentration of an interleukin (a class of cytokines) is outside the limits of normal.|HPO|N|
C4023531|The concentration of an interferon is outside the limits of normal.|HPO|N|
C4023532|An abnormality in the production or cellular release of a chemokine (a class of cytokines).|HPO|N|
C4023533|An impairment in the production by leukocytes of NFKB1-dependent cytokines such as tumor necrosis factor-alpha and interferon-alpha.|HPO|N|
C4023534|An abnormality in the production or cellular release of a cytokine (i.e., any of the non-antibody proteins made by inflammatory leukocytes and some non-leukocytic cells that affect the behavior of other cells).|HPO|N|
C4023535|Abnormality of the cytokine levels in the blood, i.e., an abnormality of any of the non-antibody proteins made by inflammatory leukocytes and some non-leukocytic cells that affect the behavior of other cells.|HPO|N|
C4023536|An abnormality of the concentration or function of circulating immune proteins.|HPO|N|
C4023537|An abnormality in the amount of volume occupied by intravascular blood.|HPO|N|
C4023539|Developmental dysplasia of dentin or both the primary dentition and the permanent dentition.|HPO|N|
C4023540|A form of hypomineralization of enamel characterized by a chalky appearance of the enamel with orange, brown, or white color.|HPO|N|
C4023541|A form of hypomineralization of enamel characterized by reduced calcification.|HPO|N|
C4023542|An abnormal conical morphology of either maxillary primary incisor tooth or maxillary permanent incisor tooth or both.|HPO|N|
C4023543|An abnormal conical morphology of the primary incisor.|HPO|N|
C4023544|Increased size of the incisor tooth.|HPO|N|
C4023545|An abnormality of morphology of premolar tooth.|HPO|N|
C4023546|An abnormality of canine tooth.|HPO|N|
C4023547|An abnormality of molar tooth.|HPO|N|
C4023548|An abnormality of premolar tooth.|HPO|N|
C4023549|A green staining of teeth.|HPO|N|
C4023550|A localized form of developmental hypoplasia of the dental enamel.|HPO|N|
C4023551|A developmental defect of tooth color.|HPO|N|
C4023552|An abnormality of morphology of permanent molar.|HPO|N|
C4023553|An abnormality of morphology of molar tooth.|HPO|N|
C4023554|The presence of an altered number of the incisor teeth.|HPO|N|
C4023555|An abnormality of morphology of the incisor tooth.|HPO|N|
C4023556|Misaligned incisor.|HPO|N|
C4023557|An abnormality of the structure or composition of the teeth.|HPO|N|
C4023558|Developmental dysplasia of dentin affecting only the primary dentition.|HPO|N|
C4023559|A localized form of periodontitis.|HPO|N|
C4023560|A generalized form of periodontitis.|HPO|N|
C4023561|Agenesis of either mandibular second permanent molar or maxillary second permanent molar.|HPO|N|
C4023562|Agenesis of either maxillary first permanent molar or mandibular first permanent molar or both.|HPO|N|
C4023563|Agenesis of secondary molar tooth.|HPO|N|
C4023564|Agenesis of mandibular premolar.|HPO|N|
C4023565|Agenesis of maxillary premolar.|HPO|N|
C4023566|Agenesis of premolar tooth.|HPO|N|
C4023567|Agenesis of one or more upper lateral secondary incisor.|HPO|N|
C4023568|Agenesis of one or more maxillary lateral incisor, comprising the maxillary lateral primary incisor.|HPO|N|
C4023569|Agenesis of lower secondary incisor.|HPO|N|
C4023570|Agenesis of lower primary incisor.|HPO|N|
C4023571|Agenesis of upper central primary incisor.|HPO|N|
C4023572|Agenesis of upper secondary incisor.|HPO|N|
C4023573|The presence of an altered number of of permanent teeth.|HPO|N|
C4023574|An abnormal concentration of corticotropin in the blood.|HPO|N|
C4023575|An abnormal concentration of potassium.|HPO|N|
C4023576|Aplasia or developmental hypoplasia of the cervical vertebral column.|HPO|N|
C4023577|An abnormality of the intrahepatic bile duct.|HPO|N|
C4023578|An abnormality of renal absorption.|HPO|N|
C4023579|An altered ability of the kidneys to void urine and/or specific substances.|HPO|N|
C4023580|An abnormality of the cortex of the kidney.|HPO|N|
C4023581|An impairment of a fructose metabolic process.|HPO|N|
C4023583|An abnormality of the homeostasis (concentration) of iron cation.|HPO|N|
C4023584|An abnormality of the homeostasis (concentration) of transition element cation.|HPO|N|
C4023585|An abnormality of blood circulation.|HPO|N|
C4023586|Aplasia or developmental hypoplasia of the vagina.|HPO|N|
C4023587|Abnormal functionality of the cardiovascular system.|HPO|N|
C4023588|An abnormality of the gastrointestinal tract.|HPO|N|
C4023591|The concentration or activity of an enzyme in the blood circulation is outside of the limits of the normal range.|HPO|N|
C4023592|An abnormality of the metabolism of mucopolysaccharide.|HPO|N|
C4023593|An abnormality of chromosome condensation.|HPO|N|
C4023594|An abnormality of the cell cycle.|HPO|N|
C4023595|An abnormality in a cellular process.|HPO|N|
C4023597|An abnormality of the concentration of glucose in the blood.|HPO|N|
C4023598|Abnormality of glucose homeostasis.|HPO|N|
C4023601|An abnormality of the neck musculature.|HPO|N|
C4023604|An increase in the number of spontaneous sister chromatid exchanges observed in cell culture of lymphocytes or other cells.|HPO|N|
C4023607|Abnormality of the striatum, which is the largest nucleus of the basal ganglia, comprising the caudate, putamen and ventral striatum, including the nucleus accumbens.|HPO|N|
C4023608|An abnormality of the abdominal musculature.|HPO|N|
C4023609|An abnormality of blood coagulation, common pathway.|HPO|N|
C4023610|An abnormality of the intrinsic pathway (also known as the contact activation pathway) of the coagulation cascade.|HPO|N|
C4023611|An abnormality of the extrinsic pathway (also known as the tissue factor pathway) of the coagulation cascade.|HPO|N|
C4023612|An abnormality of the morphology or counts of the cells that make up the immune system.|HPO|N|
C4023614|A type of multifactorial inheritance governed by the simultaneous action of two gene loci.|HPO|N|
C4023615|An abnormal increase or decrease in the level of lipoprotein cholesterol in the blood.|HPO|N|
C4023616|A functional abnormality of the immune system.|HPO|N|
C4023618|An abnormality of myeloid leukocytes.|HPO|N|
C4023619|Absence of the Lutheran antigen (a type I integral membrane glycoprotein) from the surface of red blood cells.|HPO|N|
C4023620|An abnormality of an erythrocyte cell surface molecule.|HPO|N|
C4023621|An abnormality of glycolipid metabolism.|HPO|N|
C4023622|An abnormality of liposaccharide metabolism.|HPO|N|
C4023625|By the 14th week of gestation it is nearly always possible to visualized the fluid-filled fetal stomach bubble on prenatal sonography. This term refers to the absence of a normal fetal stomach bubble on fetal ultrasonography performed at around 16 to 20 weeks' gestation.|HPO|N|
C4023628|A kind of ventriculomegaly occurring in the fetal period and usually diagnosed by prenatal ultrasound. Cerebral ventriculomegaly is defined by atrial measurements 10 mm or more. Mild ventriculomegaly (MVM) is defined as measurements between 10 and 15 mm. Measurements are obtained from an axial plane at the level of the thalamic nuclei just below the standard image to measure the BPD (PMID:16100637).|HPO|N|
C4023629|An abnormality of the third ventricle.|HPO|N|
C4023630|An abnormality of the fourth ventricle.|HPO|N|
C4023631|A first-trimester prenatal ultrasound finding of abnormal blood flow in the umbilical vein.|HPO|N|
C4023632|A first-trimester prenatal ultrasound finding of abnormal blood flow in the ductus venosus.|HPO|N|
C4023633|An abnormality of the renal pelvis.|HPO|N|
C4023634|A finding of a focus of increased echogenicity upon prenatal ultrasound examination of the fetus. The foci may be present in one or both ventricles. Echogenic intracardiac focus (EICF) is defined as a focus of echogenicity comparable to bone, in the region of the papillary muscle in either or both ventricles of the fetal heart.|HPO|N|
C4023635|Absence of the nasal bone.|HPO|N|
C4023636|Absence or underdevelopment of the nasal bone.|HPO|N|
C4023637|An abnormality of the nasal bone, comprising the left nasal bone and the right nasal bone.|HPO|N|
C4023638|An abnormality of the external nose.|HPO|N|
C4023639|An abnormality of the nasal skeleton.|HPO|N|
C4023640|An abnormality of the lower urinary tract.|HPO|N|
C4023641|An abnormality of the upper urinary tract.|HPO|N|
C4023643|An abnormality of a nucleobase metabolic process.|HPO|N|
C4023644|An abnormal concentration of sodium.|HPO|N|
C4023645|An abnormality of monovalent inorganic cation homeostasis.|HPO|N|
C4023646|An abnormality of cation homeostasis.|HPO|N|
C4023648|An abnormality of divalent inorganic cation homeostasis.|HPO|N|
C4023650|A cataract that affects the posterior part of the cortex of the lens.|HPO|N|
C4023651|An abnormality of a homocysteine metabolic process.|HPO|N|
C4023654|An abnormality of an alanine metabolic process.|HPO|N|
C4023655|An abnormality of a pyruvate family amino acid metabolic process.|HPO|N|
C4023656|Any deviation from the normal circulation of valine in the blood circulation.|HPO|N|
C4023657|An increased concentration of isoleucine in the blood.|HPO|N|
C4023659|Any deviation from the normal concentration of arginine in the blood circulation.|HPO|N|
C4023660|Any deviation from the normal concentration of lysine in the blood circulation.|HPO|N|
C4023662|An abnormality of a histidine metabolic process.|HPO|N|
C4023665|Any deviation from the normal concentration of methionine in the blood circulation.|HPO|N|
C4023666|Any deviation from the normal concentration of threonine in the blood circulation.|HPO|N|
C4023669|An elevated urinary concentration of sarcosine.|HPO|N|
C4023671|Any deviation from the normal concentration of a serine family amino acid in the blood circulation.|HPO|N|
C4023672|Any deviation from the normal concentration of phenylalanine in the blood circulation.|HPO|N|
C4023674|Morbus Koehler is a Juvenile aseptic necrosis affecting the Os naviculare pedis.|HPO|N|
C4023675|Shortening of the extremities affecting primarily the distal parts of the limbs (hands and feet) in relation to the other segments of the limbs.|HPO|N|
C4023676|Nuchal translucency is the sonographic appearance of subcutaneous accumulation of liquid in the back of the fetal neck in the first trimester of pregnancy (11-14 gestational weeks of pregnancy).|HPO|N|
C4023678|A type of strabismus in which the fixating eye is always the same one, while the other eye is constantly deviated. Monocular strabismus is to be distinguished from alternating strabismus, in which either of the eyes 'squints' at different times.|HPO|N|
C4023679|An abnormal level of a circulating protein in the blood.|HPO|N|
C4023680|A type of dyssynergia affecting eye movements and characterized by the inability to smoothly follow a visual target across the visual field.|HPO|N|
C4023681|A type of motor delay characterized by a delay in acquiring the ability to control the fingers and hands.|HPO|N|
C4023682|Epileptiform discharges induced by hyperventilation (overbreathing) in cerebral electrical activity recorded along the scalp by electroencephalography (EEG).|HPO|N|
C4023683|Complexes of spikes (<70 ms) and sharp waves (70-200 ms), which are sharp transient waves that have a strong association with epilepsy, in cerebral electrical activity recorded along the scalp by electroencephalography (EEG).|HPO|N|
C4023684|The presence of complexes of spikes and waves (>3.5 Hz) in electroencephalography (EEG).|HPO|N|
C4023685|The presence of complexes of spikes and waves (2.5-3.5 Hz) in electroencephalography (EEG).|HPO|N|
C4023686|The presence of complexes of slow spikes and slow waves (<2.5 Hz) in electroencephalography (EEG).|HPO|N|
C4023687|Multifocal slowing of cerebral electrical activity recorded along the scalp by electroencephalography (EEG).|HPO|N|
C4023688|An increased concentration of copper in the urine.|HPO|N|
C4023689|An abnormal concentration of copper.|HPO|N|
C4023690|Spontaneous pain is a kind of neuropathic pain which occurs without an identifiable trigger.|HPO|N|
C4023691|Pain is an unpleasant sensation that can range from mild, localized discomfort to agony, whereby the physical part of pain results from nerve stimulation and is often accompanied by an emotional component. This term groups abnormalities in pain sensation presumed to result from abnormalities related to the specific nerve fibers that carry the pain impulses to the brain.|HPO|N|
C4023692|An overlap of the bony plates of the skull in an infant, with or without early closure.|HPO|N|
C4023693|Focal emotional seizure with crying (dacrystic) is characterized by the presence of stereotyped crying, this may be accompanied by lacrimation, sad facial expression and sobbing. The subjective emotion of sadness may or may not be present.|HPO|N|
C4023694|Hair growth from a single point on the scalp in any location other than lateral to the midline and close to the vertex of the skull.|HPO|N|
C4023695|More than two clockwise hair whorls.|HPO|N|
C4023696|Decreased width of the uvula.|HPO|N|
C4023697|Increased length of the uvula.|HPO|N|
C4023698|Inner aspect of the upper lip vermilion (normally apposing the teeth) visible in a frontal view, i.e., the presence of an everted upper lip.|HPO|N|
C4023699|Increased pigmentation, either focal or generalized, of the skin surrounding the vermilion of the lips.|HPO|N|
C4023700|A glioma affecting the cerebellum.|HPO|N|
C4023701|Reduced ability affecting mainly visuospatial cognition which may be tested using pattern construction (for example by Differential Ability Scales, which test a person's strengths and weaknesses across a range of intellectual abilities).|HPO|N|
C4023702|Underdevelopment of the interstitial (Leydig) cells of the testis. These cells produce testosterone.|HPO|N|
C4023704|Acromial dimples are skin depressions overlying the acromial process of the scapula. They are thought to arise from the entrapment of tissue between a bony structure and the uterine wall. The skin and bone become compressed and tethering results when the pressure is released. They are usually bilateral and are an isolated finding warranting no further investigation (summary by Liu and Nanan, 2008).
Acromial dimples occur as a virtually consistent feature of 18q deletion (Insley, 1967).|OMIM|N|
C4023705|Marked widening of the trachea.|HPO|N|
C4023706|Marked widening of the major bronchi that may be predispose to chronic respiratory tract infection.|HPO|N|
C4023707|Marked widening of the trachea and major bronchi that may be predispose to chronic respiratory tract infection.|HPO|N|
C4023709|The presence of a cyst, fistula, or abscess in the sacrococcygeal region (gluteal crease) characteristically accompanied by hair and skin folds.|HPO|N|
C4023710|Abnormal thickening of the skin localized to the palm of the hand.|HPO|N|
C4023711|An abnormality of the premaxilla, the most anterior part of the maxilla that usually bears the central and lateral incisors and includes the anterior nasal spine and inferior aspect of the piriform rim. The premaxilla contains the bone and teeth of the primary palate.|HPO|N|
C4023712|Absence of the premaxilla, which is the embryonic structure that forms the anterior part of the maxilla.|HPO|N|
C4023713|Absence or underdevelopment of the premaxilla.|HPO|N|
C4023716|Nodular changes affecting the eyelids may have many different causes such as cystic lesions (chalaziae, hordeolae), lipogranulomas, melanomas, infectious diseases (Molluscum contagiosum) and many more.|HPO|N|
C4023717|The eyebrows extend towards - or even all the way down to - the margin of the upper eyelid.|HPO|N|
C4023718|A developmental defect characterized by absence of the retina.|HPO|N|
C4023719|Rupture of the eyeball not due to trauma.|HPO|N|
C4023721|An abnormality of the distribution of hair growth.|HPO|N|
C4023722|An abnormality of the texture of the hair.|HPO|N|
C4023723|Syndactyly with fusion of toes three to five.|HPO|N|
C4023724|Syndactyly with fusion of toes two to five.|HPO|N|
C4023725|Syndactyly with fusion of toes one to four.|HPO|N|
C4023726|Syndactyly with fusion of toes one and two.|HPO|N|
C4023727|Syndactyly with fusion of fingers three to five.|HPO|N|
C4023728|Syndactyly with fusion of fingers one to five (complete syndactyly of all fingers of the hand).|HPO|N|
C4023729|Syndactyly with fusion of fingers one to four.|HPO|N|
C4023730|Syndactyly with fusion of fingers one to three.|HPO|N|
C4023731|Syndactyly with fusion of fingers four and five.|HPO|N|
C4023732|Syndactyly with fusion of fingers one and two.|HPO|N|
C4023733|A nuclear cataract with a triangular form.|HPO|N|
C4023734|A type of congenital cataract in which the opacity follows the anterior or posterior Y suture.|HPO|N|
C4023735|A Lamellar cataract with a pulverulent (punctate, "dust-like" opacities) appearance.|HPO|N|
C4023736|Syndactyly with fusion of fingers two to five.|HPO|N|
C4023737|An abnormally reduced level of alkaline phosphatase, placental type in the blood.|HPO|N|
C4023738|An abnormally reduced level of alkaline phosphatase, intestinal type in the blood.|HPO|N|
C4023739|An abnormally reduced level of liver isoforms of alkaline phosphatase in the blood.|HPO|N|
C4023740|An abnormally reduced level of kidney isoforms of alkaline phosphatase in the blood.|HPO|N|
C4023741|An abnormally reduced level of bone isoforms of alkaline phosphatase in the blood.|HPO|N|
C4023742|An abnormally reduced level of alkaline phosphatase, tissue-nonspecific isozyme in the blood.|HPO|N|
C4023743|An abnormally increased level of alkaline phosphatase, placental type in the blood.|HPO|N|
C4023744|An abnormally increased level of alkaline phosphatase, intestinal type in the blood.|HPO|N|
C4023745|An abnormally increased level of kidney isoforms of alkaline phosphatase, tissue-nonspecific isozyme in the blood.|HPO|N|
C4023746|Enuresis occurring during waking hours of the day.|HPO|N|
C4023747|The presence of an abnormal curvature of the vertebral column.|HPO|N|
C4023748|An abnormality of the third metatarsal bone.|HPO|N|
C4023749|An abnormality of the zygomatic bone.|HPO|N|
C4023751|Underdevelopment of the anterior nasal spine of maxilla.|HPO|N|
C4023752|An abnormality of the Diencephalon, which together with the cerebrum (telencephalon) makes up the forebrain.|HPO|N|
C4023753|A developmental defect characterized by the absence of the third ventricle.|HPO|N|
C4023754|Patchy (irregular) changes in bone mineral density. These changes can either be patchy reduction or increase of mineral density as seen on x-rays. Depending on the pathomechanism and the underlying disease, these changes can either appear solely as reduction or increase or as a combination of both (patches of bone showing an increased density while others are affected by reduction of mineral density).|HPO|N|
C4023755|Patchy (irregular) reduction in bone density. This can take on many forms depending on severity and distribution as can be seen on x-rays.|HPO|N|
C4023756|A developmental defect characterized by aplasia of the Falx cerebri.|HPO|N|
C4023757|An abnormality of the Dura mater.|HPO|N|
C4023758|An abnormality of the Meninges, including any abnormality of the Dura mater, the Arachnoid mater, and the Pia mater.|HPO|N|
C4023759|An abnormal degree of flatness of the Ala of nose, which can be defined as a reduced nasal elevation index (lateral depth of the nose from the tip of the nose to the insertion of the nasal ala in the cheek x 100 divided by the side-to-side breadth of the nasal alae).|HPO|N|
C4023760|Any abnormal increase or reduction in skin elasticity.|HPO|N|
C4023761|Absence of the distal phalanges of the toes.|HPO|N|
C4023762|Absence or abnormal closure of the midnasal cavity.|HPO|N|
C4023763|Abnormality of the nasal cavity (the cavity includes and starts at the nares and reaches all the way through to the and includes the choanae, the posterior nasal apertures).|HPO|N|
C4023764|An abnormally increased level of liver isoforms of alkaline phosphatase, tissue-nonspecific isozyme in the blood.|HPO|N|
C4023765|Reduced ability to perceive certain odorants (implies that the sense of smell is maintained for other classes of odorants).|HPO|N|
C4023766|Reduced ability to detect any qualitative olfactory sensation.|HPO|N|
C4023767|Inability to perceive certain odorants (implies that the sense of smell is maintained for other classes of odorants).|HPO|N|
C4023768|Inability to detect any qualitative olfactory sensation.|HPO|N|
C4023769|Any abnormality of the epiphyses of the feet.|HPO|N|
C4023770|Any abnormality affecting the cortex of the humerus.|HPO|N|
C4023771|Absence or underdevelopment of the anterior pituitary gland, also known as the adenohypophysis.|HPO|N|
C4023772|Any abnormality of the proximal epiphysis of the ulna.|HPO|N|
C4023773|Any abnormality of the distal epiphysis of the ulna.|HPO|N|
C4023774|Any abnormality of the distal epiphysis of the humerus.|HPO|N|
C4023775|Any abnormality of the proximal epiphysis of the humerus.|HPO|N|
C4023776|Any abnormality of the distal epiphysis of the radius.|HPO|N|
C4023777|Any abnormality of the proximal epiphysis of the radius.|HPO|N|
C4023778|Any abnormality of the distal epiphysis of the fibula.|HPO|N|
C4023779|Any abnormality of the proximal epiphysis of the fibula.|HPO|N|
C4023782|Any abnormality of the proximal epiphysis of the tibia.|HPO|N|
C4023783|Any abnormality of the distal epiphysis of the femur.|HPO|N|
C4023784|Longitudinal epiphyseal bracket or bracket epiphysis is an uncommon disorder of growth. Alternatively known as a delta phalanx, it is due to an anomalous secondary ossification center that extends longitudinally along the diaphysis. Although rare, longitudinal epiphyseal bracket most commonly manifests in the hands as clinodactyly and in the feet as hallux varus.|HPO|N|
C4023786|An abnormal elevation of phytanic acid.|HPO|N|
C4023787|An abnormally low concentration of serum alpha-fetoprotein as compared to normal values for gestational-age.|HPO|N|
C4023788|A hamartoma (disordered proliferation of mature tissues) which can originate from any tissue of the eye.|HPO|N|
C4023789|Y-shaped metatarsals are the result of a partial fusion of two metatarsal bones, with the two arms of the Y pointing in the distal direction. Y-shaped metatarsals may be seen in combination with polydactyly.|HPO|N|
C4023790|This term applies if the Epiglottis is absent or hypoplastic.|HPO|N|
C4023791|An abnormality of the clivus, which is the inclined bony region of the posterior cranial fossa located between the sella turcica and the foramen magnum.|HPO|N|
C4023792|Weakness of both lower extremities with sparing of the upper extremities. Paraplegia refers to a severe or complete loss of strength, whereas paraparesis refers to a relatively mild loss of strength.|HPO|N|
C4023793|A degree of pneumatization that is increased compared to age-related norms.|HPO|N|
C4023794|An abnormally small sella turcica.|HPO|N|
C4023795|The presence of ectopic thymus tissue. Normally, cells of the ventral bud of the third pharyngeal pouch detach and migrate in the eighth gestational week caudally and medially towards the location of the mature thyroid. They migrate further retrosternally into the superior mediastinum. There are two main ways ectopic thymus tissue can develop. Either cells detach along the descensus path and proliferate, thereby forming accessory thymus tissue, or the entire gland fails to descend.|HPO|N|
C4023796|Absence or underdevelopment of the thymus.|HPO|N|
C4023797|Deposition of calcium salts in the pituitary gland.|HPO|N|
C4023798|An ability of the toe joints to move beyond their normal range of motion.|HPO|N|
C4023799|A difference in size or shape between the left and right foot.|HPO|N|
C4023800|An abnormal limitation of the mobility of the ankle joint.|HPO|N|
C4023801|A bending or abnormal curvature of the fibula.|HPO|N|
C4023802|The ability of the knee joint to extend beyond its normal range of motion (the lower leg is moved beyond a straight position with respect to the thigh).|HPO|N|
C4023803|Abnormal increase in size of the lower limbs (due to an increase of the size of cells).|HPO|N|
C4023804|Amniotic constriction rings affecting the legs.|HPO|N|
C4023805|Shortening of the legs predominantly affecting terminal parts of the leg in relation to the upper and middle arm segments.|HPO|N|
C4023806|Absence or underdevelopment of the palmar creases.|HPO|N|
C4023807|An abnormality of the hypothenar eminence, i.e., of the muscles on the ulnar side of the palm of the hand (i.e., on the side of the little finger).|HPO|N|
C4023808|The ability of the elbow joint to move beyond its normal range of motion.|HPO|N|
C4023809|Amniotic constriction rings affecting the arms.|HPO|N|
C4023810|Shortening of the arms predominantly affecting terminal parts of the arm in relation to the upper and middle limb segments.|HPO|N|
C4023811|Abnormality of the urachus.|HPO|N|
C4023812|Aplasia (absence) of the urinary bladder.|HPO|N|
C4023813|Absence or underdevelopment of the urinary bladder.|HPO|N|
C4023814|An abnormality in the synthesis or catabolism of heme. Heme is composed of ferrous iron and protoporphyrin IX and is an essential molecule as the prosthetic group of hemeproteins such as hemoglobin, myoglobin, mitochondrial and microsomal cytochromes.|HPO|N|
C4023815|Increased urinary excretion of oligosaccharides (low molecular weight carbohydrate chains composed of at least three monosaccharide subunits), derived from a partial degradation of glycoproteins.|HPO|N|
C4023817|Absence or underdevelopment of the testes.|HPO|N|
C4023818|Aplasia or developmental hypoplasia of the ovary.|HPO|N|
C4023819|Abnormality of the male genital system.|HPO|N|
C4023820|Abnormality of the female genital system.|HPO|N|
C4023822|An abnormality of the sacrosciatic notch, i.e., the deep indentation in the posterior border of the hip bone at the point of union of the ilium and ischium.|HPO|N|
C4023823|Absence or underdevelopment of the spleen.|HPO|N|
C4023824|A bifid or bifurcated appearance of the femur as seen on x-rays, possible appearing as a more or less severe bowing of the upper leg. Might be associated with hip dysplasia on the affected side.|HPO|N|
C4023825|In contrast to forms of polydactyly where the supernumerary digit (this can either be a rudimentary or a completely 'normal' digit) is either located postaxial (on the ulnar side of the hand, next to the little finger), preaxial (on the radial side of the hand, next to the thumb) or mesoaxial (somewhere central, between thumb and little finger), a supernumerary digit may also be placed ectopically, meaning anywhere else except post-,meso- or preaxial. In the literature this is sometimes referred to as Disorganisation-like Syndrome (OMIM223200).|HPO|N|
C4023826|In contrast to forms of polydactyly where the supernumerary digit (this can either be a rudimentary or a completely 'normal' digit) is either located postaxial (on the fibular side of the foot, next top the little toe), preaxial (on the tibial side of the foot, next to the big toe) or mesoaxial (somewhere central, between big and little toe), a supernumerary digit may also be placed ectopically, meaning anywhere else except post-,meso- or preaxial. In the literature this is sometimes referred to as Disorganisation-like Syndrome (OMIM223200).|HPO|N|
C4023830|Complete duplication of a phalanx of second toe.|HPO|N|
C4023831|Partial duplication of a phalanx of second toe.|HPO|N|
C4023832|Partial duplication of middle phalanx of second toe.|HPO|N|
C4023833|Complete duplication of middle phalanx of second toe.|HPO|N|
C4023834|Partial duplication of the distal phalanx of second toe.|HPO|N|
C4023835|Complete duplication of the distal phalanx of second toe.|HPO|N|
C4023840|A deviation from the normal straight form of the distal phalanx of the 2nd toe.|HPO|N|
C4023841|An abnormal morphology of the distal phalanx of the second toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.|HPO|N|
C4023848|A deviation from the normal straight form of the middle phalanx of the 2nd toe.|HPO|N|
C4023849|An abnormal morphology of the middle phalanx of the second toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.|HPO|N|
C4023856|A deviation from the normal straight form of the proximal phalanx of the 2nd toe.|HPO|N|
C4023857|An abnormal morphology of the proximal phalanx of the 2nd toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.|HPO|N|
C4023859|Absence (agenesis) or underdevelopment of the proximal phalanx of the 2nd toe.|HPO|N|
C4023876|An anomaly of the proximal phalanx of third toe.|HPO|N|
C4023887|Fusion of the interphalangeal joints of the 2nd toe.|HPO|N|
C4023903|An anomaly of a phalanx of second toe.|HPO|N|
C4023905|An anomaly of the little toe.|HPO|N|
C4023906|An anomaly of the fourth toe.|HPO|N|
C4023907|An anomaly of the third toe.|HPO|N|
C4023908|An anomaly of the second toe.|HPO|N|
C4023909|Absence or underdevelopment of the abdominal musculature.|HPO|N|
C4023910|Absence or underdevelopment of the diaphragm.|HPO|N|
C4023911|Absence or underdevelopment of the breasts.|HPO|N|
C4023912|The congenital absence of the sternum.|HPO|N|
C4023913|An outpouching of the spinal meninges.|HPO|N|
C4023914|Any abnormality of the spinal meninges, the system of membranes (dura mater, the arachnoid mater, and the pia mater) which envelops the spinal cord.|HPO|N|
C4023915|An abnormal decrease in the pitch of the voice.|HPO|N|
C4023916|Absence or underdevelopment of the tongue.|HPO|N|
C4023917|Underdevelopment or absence of the uvula.|HPO|N|
C4023918|Distance between the labial point of the incisive papilla to the midline junction of the hard and soft palate more than 2 SD below the mean (objective) or apparently decreased length of the hard palate (subjective).|HPO|N|
C4023919|Any abnormality of the sublingual glands, which are the salivary glands that are located beneath the floor of the mouth anterior to the submandibular glands.|HPO|N|
C4023920|Any abnormality of the submandibular glands, which are the salivary glands that are located beneath the floor of the mouth, superior to the digastric muscles.|HPO|N|
C4023921|Fibrous band between the mucosal surfaces of the upper and lower alveolar ridges.|HPO|N|
C4023926|A secondary ossification center in the proximal phalanges of the hand that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.|HPO|N|
C4023927|Epiphyses of the proximal phalanges of the hand are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs.|HPO|N|
C4023932|An abnormality of the proximal phalanges of the hand in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.|HPO|N|
C4023937|A secondary ossification center in the middle phalanges of the hand that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.|HPO|N|
C4023938|Epiphyses of the middle phalanges of the hand are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs.|HPO|N|
C4023940|Fragmented appearance of the epiphyses of the middle phalanges of the hand.|HPO|N|
C4023942|An abnormality of the middle phalanges of the hand in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.|HPO|N|
C4023947|A secondary ossification center in the distal phalanges of the hand that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.|HPO|N|
C4023952|An abnormality of the distal phalanges of the hand in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.|HPO|N|
C4023956|Any anomaly of distal epiphysis of phalanx of finger.|HPO|N|
C4023957|The normal epiphysis of the fifth metacarpal is localized at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present.|HPO|N|
C4023958|Any abnormality of the epiphysis of the fifth metacarpal bone.|HPO|N|
C4023959|The normal epiphysis of the fourth metacarpal is localized at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present.|HPO|N|
C4023960|Any abnormality of the epiphysis of the 4th metacarpal bone.|HPO|N|
C4023961|The normal epiphysis of the third metacarpal is localized at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present.|HPO|N|
C4023962|Any abnormality of the epiphysis of the third metacarpal bone.|HPO|N|
C4023964|Any abnormality of the epiphysis of the second metacarpal bone.|HPO|N|
C4023965|A foot deformity resulting due to an abnormality affecting the bones of the foot (as well as muscle and soft tissue). In contrast if only the muscle and soft tissue are affected the term positional foot deformity applies.|HPO|N|
C4023966|The joint between the first metatarsal and the proximal phalanx of the first (big) toe cannot be straightened actively or passively.|HPO|N|
C4023967|The interphalangeal joint of the big toe cannot be straightened actively or passively.|HPO|N|
C4023968|Chronic loss of joint motion in the tarsometatarsal joint of the hallux due to structural changes in non-bony tissue. The tarsometatarsal joints of the feet are also called Lisfranc's joints.|HPO|N|
C4023971|An increase in width of one ore more proximal toe phalanges.|HPO|N|
C4023980|Increased width of the distal phalanx of toe of one or more toes.|HPO|N|
C4023986|Increased width of phalanx of one or more toes.|HPO|N|
C4023997|Absence of the epiphyses of the phalanges of the toes.|HPO|N|
C4024004|The epiphysis of the 1st metatarsal appears hard and dense like ivory. An ivory epiphysis has a uniformly dense appearance on radiographs.|HPO|N|
C4024008|A conical (cone-shaped) appearance of the epiphysis of the first metatarsal of the foot.|HPO|N|
C4024009|The epiphysis of the 1st metatarsal surrounds the diaphysis, having a bracket-like form.|HPO|N|
C4024010|Failure to form (agenesis) of the epiphysis of the 1st metatarsal.|HPO|N|
C4024012|The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the distal phalanx of the hallux.|HPO|N|
C4024020|The epiphysis of the distal phalanx of the hallux surrounds the diaphysis, having a bracket-like form.|HPO|N|
C4024021|Failure to form (agenesis) of the epiphysis of the distal phalanx of the hallux.|HPO|N|
C4024023|The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the proximal phalanx of the hallux.|HPO|N|
C4024025|A pseudoepiphysis (an accessory epiphysis that does not significantly contribute to the longitudinal growth of a tubular bone) located in the proximal phalanx of the big toe.|HPO|N|
C4024031|The epiphysis of the proximal phalanx of the hallux surrounds the diaphysis, having a bracket-like form.|HPO|N|
C4024032|Failure to form (agenesis) of the epiphysis of the proximal phalanx of the hallux.|HPO|N|
C4024033|In contrast to the metatarsals 2-5, the first metatarsal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5, whereas the proximal phalanx of the big toe is equivalent to the middle phalanges of the other digits. This term applies to abnormalities affecting the proximal phalanx of the hallux.|HPO|N|
C4024034|In contrast to the metatarsals 2-5, the first metatarsal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5, whereas the proximal phalanx of the big toe is equivalent to the middle phalanges of the other digits. This term applies to abnormalities of the epiphysis of the first metatarsal bone.|HPO|N|
C4024037|The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the hallux.|HPO|N|
C4024049|A developmental defect consisting in the duplication of part of the first metatarsal bone.|HPO|N|
C4024050|A developmental defect consisting in the complete duplication of the first metatarsal bone.|HPO|N|
C4024052|Partial duplication of the proximal phalanx of big toe.|HPO|N|
C4024053|Complete duplication of the proximal phalanx of big toe.|HPO|N|
C4024054|Partial or complete duplication of the proximal phalanx of big toe.|HPO|N|
C4024059|A deviation from the normal straight form of the proximal phalanx of the big toe.|HPO|N|
C4024060|An abnormal morphology of the proximal phalanx of the big toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.|HPO|N|
C4024066|A deviation from the normal straight form of the distal phalanx of the big toe.|HPO|N|
C4024067|An abnormal morphology of the distal phalanx of the big toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.|HPO|N|
C4024068|An increase in width of the distal phalanx of the big toe.|HPO|N|
C4024073|Dissolution or degeneration of bone tissue of the first metatarsal.|HPO|N|
C4024074|A deviation from the normal straight shape of a proximal phalanx of the 1st metatarsal bone.|HPO|N|
C4024075|An abnormal morphology of the firstmetatarsal bone, which is short and wide and tapers distally, and lacks the normal diaphyseal constriction.|HPO|N|
C4024076|Absence or underdevelopment of the first metatarsal bone.|HPO|N|
C4024082|An anomaly of the first metatarsal bone.|HPO|N|
C4024084|An abnormal shape or form of the proximal phalanx of the big toe.|HPO|N|
C4024085|Aplasia or Hypoplasia affecting the 5th metacarpal.|HPO|N|
C4024086|Absence of the fourth long bone of the hand.|HPO|N|
C4024087|Aplasia or Hypoplasia affecting the 4th metacarpal.|HPO|N|
C4024088|Absence of the third long bone of the hand.|HPO|N|
C4024089|Aplasia or Hypoplasia affecting the 3rd metacarpal.|HPO|N|
C4024090|Absence of the second long bone of the hand.|HPO|N|
C4024091|Aplasia or Hypoplasia affecting the 2nd metacarpal.|HPO|N|
C4024092|This term applies to a triangular shaped 1st metacarpal.|HPO|N|
C4024093|Uneven increase in bone density within the 1st metacarpal.|HPO|N|
C4024094|Dissolution or degeneration of bone tissue of the 1st metacarpal.|HPO|N|
C4024095|A deviation from the normal straight shape of the first metacarpal.|HPO|N|
C4024096|The presence of short and wide 1st metacarpal which tapers distally ("bullet shaped").|HPO|N|
C4024097|Increased width of the 1st metacarpal. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.|HPO|N|
C4024098|Aplasia or Hypoplasia affecting the 1st metacarpal. In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5 (whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits).|HPO|N|
C4024100|Abnormally small size of the epiphysis of the 1st metacarpal with respect to age-dependent norms.|HPO|N|
C4024101|The epiphysis of the first metacarpal is localized at the proximal end of the metacarpal bone although an accessory epiphysis may be located at the distal end of the metacarpal.|HPO|N|
C4024102|The epiphysis of the 1st metacarpal appears hard and dense like ivory. An ivory epiphysis has a uniformly dense appearance on radiographs.|HPO|N|
C4024103|Uneven radiographic opacity of the epiphysis of the 1st metacarpal.|HPO|N|
C4024104|Epiphysis of the 1st metacarpal having multiple bony fragments.|HPO|N|
C4024105|Abnormally large size of the epiphyses of the 1st metacarpal with respect to age-dependent norms.|HPO|N|
C4024106|A cone-shaped appearance of the epiphysis of the 1st metacarpal, producing a 'ball-in-a-socket' appearance.|HPO|N|
C4024107|An epiphysis that curves around from its transverse orientation to a longitudinal one from proximal to distal along one side of the phalanx, thus resembling the letter 'C' and forming a bracket around the diaphysis. This results in a so called delta phalanx characterized by a triangular or trapezoidal shaped bone with a C-shaped epiphyseal plate.|HPO|N|
C4024109|In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5 (whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits). The epiphysis of the first metacarpal is localized at the proximal end (as seen in the proximal phalanges of the other digits), whereas the epiphyses of the other metacarpal bones are located at the distal end. This term applies if the epiphysis of the 1st metacarpal is in any way abnormal, referring to age and gender depending norms, as seen on x-rays.|HPO|N|
C4024110|Any abnormality of the fifth metacarpal bone.|HPO|N|
C4024111|Any abnormality of the fourth metacarpal bone.|HPO|N|
C4024112|Any abnormality of the third metacarpal bone.|HPO|N|
C4024113|Any abnormality of the second metacarpal bone.|HPO|N|
C4024114|A structural anomaly of the first metacarpal.|HPO|N|
C4024115|A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the middle phalanges of the hand. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones.|HPO|N|
C4024116|A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the proximal phalanges of the hand. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones.|HPO|N|
C4024117|A complete duplication affecting one or more of the middle phalanges of the hand. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accessory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a pseudoepiphysis (see corresponding terms) sometimes also referred to as hyperphalangism.|HPO|N|
C4024118|A complete duplication affecting one or more of the distal phalanges of the hand.|HPO|N|
C4024119|A complete duplication affecting one or more of the proximal phalanges of the hand. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism.|HPO|N|
C4024120|A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the hand. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones.|HPO|N|
C4024121|A complete duplication affecting one or more of the phalanges of the hand. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, is a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism.|HPO|N|
C4024122|Partial or complete duplication of the fifth proximal phalanx of hand, seen on x-rays as a broad and/or bifid phalanx.|HPO|N|
C4024123|Partial duplication of the fifth middle phalanx of hand, seen on x-rays as a broad and/or bifid phalanx.|HPO|N|
C4024124|Complete duplication of the fifth proximal phalanx of hand.|HPO|N|
C4024125|Complete duplication of the fifth middle phalanx of hand.|HPO|N|
C4024126|Complete duplication of the distal phalanx of little finger.|HPO|N|
C4024127|A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the 5th finger. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones.|HPO|N|
C4024128|A complete duplication affecting one or more of the phalanges of the 5th finger. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism.|HPO|N|
C4024129|Partial duplication of the fourth proximal phalanx of hand, seen on x-rays as a broad and/or bifid phalanx.|HPO|N|
C4024130|Partial duplication of the middle phalanx of ring finger, seen on x-rays as a broad and/or bifid phalanx.|HPO|N|
C4024131|Complete duplication of the fourth proximal phalanx of hand.|HPO|N|
C4024132|Complete duplication of the middle phalanx of ring finger.|HPO|N|
C4024133|Complete duplication of the distal phalanx of ring finger.|HPO|N|
C4024134|A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the 4th finger. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones.|HPO|N|
C4024135|A complete duplication affecting one or more of the phalanges of the 4th finger. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism.|HPO|N|
C4024137|Partial duplication of the third proximal phalanx of hand, seen on x-rays as a broad and/or bifid phalanx.|HPO|N|
C4024138|Partial duplication of the middle phalanx of middle finger, seen on x-rays as a broad and/or bifid phalanx.|HPO|N|
C4024139|Complete duplication of the third proximal phalanx of hand.|HPO|N|
C4024140|Complete duplication of the middle phalanx of middle finger.|HPO|N|
C4024141|Complete duplication of the distal phalanx of middle finger|HPO|N|
C4024142|A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the 3rd finger. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones.|HPO|N|
C4024143|A complete duplication affecting one or more of the phalanges of the 3rd finger. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism.|HPO|N|
C4024145|A complete duplication affecting one or more of the phalanges of the 2nd finger. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, is a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism.|HPO|N|
C4024146|A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the 2nd finger. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones.|HPO|N|
C4024147|Partial duplication of the second proximal phalanx of hand, seen on x-rays as a broad and/or bifid phalanx.|HPO|N|
C4024148|Complete duplication of the second proximal phalanx of hand.|HPO|N|
C4024149|Partial duplication of the middle phalanx of index finger, seen on x-rays as a broad and/or bifid phalanx.|HPO|N|
C4024150|Complete duplication of the middle phalanx of index finger.|HPO|N|
C4024151|Complete duplication of the distal phalanx of index finger.|HPO|N|
C4024153|The presence of an asymmetric mouth.|HPO|N|
C4024154|Lack or loss of the soft tissues between the zygomata and mandible.|HPO|N|
C4024155|Abnormally narrow nasal septum.|HPO|N|
C4024156|Absence or underdevelopment of the nasal septum.|HPO|N|
C4024157|Asymmetry or size difference between the left and right nostril.|HPO|N|
C4024158|A structural abnormality of the columella.|HPO|N|
C4024159|Underdevelopment or absence of the nose or parts thereof.|HPO|N|
C4024160|Persistence of the hyaloid artery, which is the embryonic artery that runs from the optic disc to the posterior lens capsule may persist; the site of attachment may form an opacity. The hyaloid artery is a branch of the ophthalmic artery, and usually regresses completely before birth.|HPO|N|
C4024161|Aplasia or developmental hypoplasia of the tragus.|HPO|N|
C4024162|An abnormality of the tragus.|HPO|N|
C4024163|Abnormality of the temporal bone of the skull, which is situated at the sides and base of the skull roughly underlying the region of the face known as the temple.|HPO|N|
C4024164|Decreased thickness of the helix of the ear.|HPO|N|
C4024165|Abnormally prominent ear helix.|HPO|N|
C4024166|Distortion of the course of the normal folds of the ear and the appearance of supernumerary crura and folds.|HPO|N|
C4024168|Increased thickness of the external ear.|HPO|N|
C4024169|The presence of telangiectasia of the ear.|HPO|N|
C4024170|Abnormally increased hair growth with a localized distribution.|HPO|N|
C4024171|Abnormality of the growth of secondary sexual hair, which normally ensues during puberty. In males, secondary sexual hair usually comprises body hair, including underarm, abdominal, chest, and pubic hair. In females, secondary sexual hair usually comprises a lesser degree of body hair, most prominently underarm and pubic hair.|HPO|N|
C4024172|An abnormality of hair pigmentation (color).|HPO|N|
C4024174|Abnormally wide (broad) distal phalanx of finger of all fingers.|HPO|N|
C4024175|The presence of cerebellar signs and symptoms such as lack of balance associated with quadrupedal gait (locomotion on all four extremities with a 'bear-like' gait with the legs held straight).|HPO|N|
C4024180|Short and wide proximal phalanges that taper distally . Bullet-shaped phalanges lack the normal diaphyseal constriction.|HPO|N|
C4024181|Increased width of the proximal phalanges of the finger.|HPO|N|
C4024184|Fusion of a middle phalanx of a finger with another bone.|HPO|N|
C4024187|Any of the middle phalanges with short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.|HPO|N|
C4024189|Short and wide distal phalanges that taper distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.|HPO|N|
C4024191|An anomaly of middle phalanx of finger.|HPO|N|
C4024192|The distal parts of the limbs are missing leading to a stump formation.|HPO|N|
C4024196|Peromelia affecting only the lower limbs. That is, the distal parts of the leg are missing leading to stump formation.|HPO|N|
C4024197|Amelia of one or both legs.|HPO|N|
C4024199|Peromelia affecting only the upper limbs. That is, the distal parts of the arm are missing leading to stump formation.|HPO|N|
C4024200|Amelia of one or both upper limbs.|HPO|N|
C4024201|A form of heart failure characterized by reduced cardiac output. This may be seen in patients with heart failure owing to ischemic heart disease, hypertension, cardiomyopathy, and other causes.|HPO|N|
C4024202|The absence of one or more teeth from the normal series by a failure to develop|HPO|N|
C4024203|Absence of one or more of the phalanges of the hand.|HPO|N|
C4024204|Presence of a bifid sacral bone.|HPO|N|
C4024206|Absence or underdevelopment of the quadriceps muscle.|HPO|N|
C4024207|Absence or underdevelopment involving the musculature of the thigh.|HPO|N|
C4024208|Absence or underdevelopment of the triceps muscle.|HPO|N|
C4024209|Absence or underdevelopment of the biceps muscle.|HPO|N|
C4024210|A zone of darker pigmentation around the central part of the iris with a roughly cloverleaf or flower shape.|HPO|N|
C4024212|Pyramidal skinfold extending from the base to the top of the nails is a rare and distinctive anomaly seen in popliteal pterygia syndrome.|HPO|N|
C4024213|Absence of the pectoralis major muscle.|HPO|N|
C4024214|An abnormality of the spinal dura mater, which is the outermost of the three layers of the meninges surrounding the spinal cord.|HPO|N|
C4024215|Absence of the parotid gland.|HPO|N|
C4024216|Pseudarthrosis, or "false joint" of the tibia is the result of a developmental failure in the tibia progressing to spontaneous fracture and subsequent fibrous nonunion. The fracture is rarely present at birth but commonly develops during the first 18 months of life.|HPO|N|
C4024217|A neurofibroma (benign peripheral nerve sheath tumor) localized in the spine.|HPO|N|
C4024218|The presence of a hamartoma of the cerebrum.|HPO|N|
C4024219|A lesion located beneath a fingernail or toenail.|HPO|N|
C4024220|Hypomelanotic macules ("ash leaf spots") are white or lighter patches of skin that may appear anywhere on the body and are caused by a lack of melanin. White ash leaf-shaped macules are considered to be characteristic of tuberous sclerosis.|HPO|N|
C4024221|A cystadenoma, an epithelial tumor, that originates within the head of the epididymis.|HPO|N|
C4024222|An abnormality of the epididymis.|HPO|N|
C4024223|A hemangioblastoma of the spinal cord.|HPO|N|
C4024229|Chronic cerebrospinal fluid (CSF) lymphocytosis is defined as the finding, in at least two serial CSF examinations, of more than 5 cells per cubic millimeter.|HPO|N|
C4024230|Chronic loss of joint motion in one or more distal interphalangeal joints of the fingers.|HPO|N|
C4024232|An abnormality of the thumb in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.|HPO|N|
C4024233|Absence of one or more epiphyses of the thumb.|HPO|N|
C4024234|A triangular appearance of the epiphysis of the distal phalanx of the thumb of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat.|HPO|N|
C4024235|The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the thumb.|HPO|N|
C4024236|Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the thumb with respect to age-dependent norms.|HPO|N|
C4024237|A pseudoepiphysis (which is a secondary ossification center distinct from the normal epiphysis) of the distal phalanx of the thumb.|HPO|N|
C4024238|Sclerosis of the epiphysis of the distal phalanx of the thumb, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.|HPO|N|
C4024239|Uneven radiographic opacity of the epiphysis of the distal phalanx of the thumb.|HPO|N|
C4024240|Epiphysis of the distal phalanx of the thumb having multiple bony fragments.|HPO|N|
C4024241|An abnormality of the distal phalanx of the thumb in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.|HPO|N|
C4024242|Absence of the epiphysis located at the proximal end of the distal phalanx of the thumb.|HPO|N|
C4024243|A triangular appearance of the epiphysis of the proximal phalanx of the thumb of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.|HPO|N|
C4024244|The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.|HPO|N|
C4024245|Abnormally small size of the epiphysis located at the proximal end of the proximal phalanx of the thumb with respect to age-dependent norms.|HPO|N|
C4024246|A pseudoepiphysis (which is a secondary ossification center distinct from the normal epiphysis) of the proximal phalanx of the thumb.|HPO|N|
C4024247|Sclerosis of the epiphysis of the proximal phalanx of the thumb, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.|HPO|N|
C4024248|Irregular radiographic opacity of the epiphysis of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.|HPO|N|
C4024249|Epiphysis of the proximal phalanx of the thumb having multiple bony fragments.|HPO|N|
C4024250|Abnormally large size of the epiphysis located at the proximal end of the proximal phalanx of the thumb with respect to age-dependent norms. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.|HPO|N|
C4024251|A cone-shaped appearance of the epiphysis of the proximal phalanx of the thumb of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.|HPO|N|
C4024252|An abnormality of the proximal phalanx of the thumb in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.|HPO|N|
C4024253|Absence of the epiphysis located at the proximal end of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.|HPO|N|
C4024254|This term applies if the epiphysis of the proximal phalanx of the thumb, which is located at the proximal end of the phalanx, does not appear in concordance with gender and age dependant norms as seen on x-rays. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.|HPO|N|
C4024255|The absence of a phalangeal segment of a thumb.|HPO|N|
C4024257|Triangular shaped distal phalanx of the thumb. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.|HPO|N|
C4024258|An uneven increase in bone density of the distal phalanx of the thumb.|HPO|N|
C4024259|A deviation from the normal straight shape of the distal phalanx of the thumb.|HPO|N|
C4024260|Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the thumb is affected.|HPO|N|
C4024262|Fusion of the proximal phalanx of the thumb with the 1st metacarpal.|HPO|N|
C4024263|Fusion of a phalanx of the thumb with another bone.|HPO|N|
C4024264|An uneven increase in bone density of the proximal phalanx of the thumb.|HPO|N|
C4024265|A deviation from the normal straight shape of the proximal phalanx of the thumb.|HPO|N|
C4024266|Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the thumb is affected.|HPO|N|
C4024267|Increased width of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.|HPO|N|
C4024268|This term applies if the proximal phalanx of the thumb is either small/hypoplastic or absent. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.|HPO|N|
C4024269|Chronic loss of joint motion of the carpometacarpal joint of the thumb due to structural changes in non-bony tissue. This joint is formed by the first metacarpal and the trapezial bone and is also called Articulatio carpometacarpalis pollicis, carpometacarpal articulation of thumb, carpometacarpal joint of thumb or first carpometacarpal articulation. Seldom referred to as thumb saddle joint.|HPO|N|
C4024270|Insertion of thumb at a more distal location than normal.|HPO|N|
C4024271|Complete duplication of the first metacarpal bone.|HPO|N|
C4024272|This term applies if the proximal phalanx of the thumb is partially duplicated. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx) to a partially fused appearance of the two bones. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.|HPO|N|
C4024273|Complete duplication of the proximal phalanx of the thumb. On x-ray two separate bones appear side to side. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.|HPO|N|
C4024274|Fusion of the proximal phalanx of the 2nd finger with the 2nd metacarpal.|HPO|N|
C4024275|Absence of the proximal phalanx of the 2nd finger.|HPO|N|
C4024276|The presence of a peripheral schwannoma.|HPO|N|
C4024277|Fusion of the proximal phalanx of the 2nd finger with another bone.|HPO|N|
C4024278|Uneven (irregular) increase in bone density of the proximal phalanx of the second finger.|HPO|N|
C4024279|Curved appearance of the proximal phalanx of the 2nd finger.|HPO|N|
C4024280|Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the 2nd finger is affected.|HPO|N|
C4024282|Fusion of the proximal and middle phalanges of the 2nd finger.|HPO|N|
C4024283|Triangular shaped middle phalanx of the 2nd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.|HPO|N|
C4024284|Fusion of the middle phalanx of the 2nd finger with another bone.|HPO|N|
C4024285|Uneven (irregular) increase in bone density of the middle phalanx of the second finger.|HPO|N|
C4024286|Curved appearance of the middle phalanx of the 2nd finger.|HPO|N|
C4024287|Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the middle phalanx of the 2nd finger is affected.|HPO|N|
C4024288|Increased width of the middle phalanx of the second finger.|HPO|N|
C4024289|Triangular shaped distal phalanx of the 2nd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.|HPO|N|
C4024290|Uneven (irregular) increase in bone density of the distal phalanx of the second finger.|HPO|N|
C4024291|Curved appearance of the distal phalanx of the 2nd finger.|HPO|N|
C4024292|Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the 2nd finger is affected.|HPO|N|
C4024293|Increased width of the distal phalanx of the 2nd finger.|HPO|N|
C4024295|Underdevelopment of the pharynx.|HPO|N|
C4024296|An tongue-like extension of hair towards the cheeks, in which hair growth extends in front of the ear to the lateral cheekbones.|HPO|N|
C4024297|The hairline refers to the outline of hair of the head. An abnormality of the hairline can refer to an unusually low or high border between areas of the scalp with and without hair or to abnormal projections of scalp hair.|HPO|N|
C4024300|A second finger with short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.|HPO|N|
C4024301|Chronic loss of joint motion of the metacarpophalangeal joint of the 2nd finger due to structural changes in non-bony tissue.|HPO|N|
C4024302|Chronic loss of joint motion of the distal interphalangeal joint of the 2nd finger due to structural changes in non-bony tissue.|HPO|N|
C4024305|A secondary ossification center in the proximal phalanx of the second finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.|HPO|N|
C4024313|A secondary ossification center in the middle phalanx of the second finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.|HPO|N|
C4024318|An abnormality of the middle phalanx of the second finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.|HPO|N|
C4024319|A triangular appearance of the epiphysis of the distal phalanx of the 2nd finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat.|HPO|N|
C4024320|The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 2nd finger.|HPO|N|
C4024321|Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the 2nd finger with respect to age-dependent norms.|HPO|N|
C4024322|A secondary ossification center in the distal phalanx of the second finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.|HPO|N|
C4024323|Irregular radiographic opacity of the epiphysis of the distal phalanx of the 2nd finger.|HPO|N|
C4024324|Fragmented appearance of the epiphysis of the distal phalanx of the 2nd finger.|HPO|N|
C4024325|Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the 2nd finger with respect to age-dependent norms.|HPO|N|
C4024326|A cone-shaped appearance of the epiphysis of the distal phalanx of the 2nd finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx.|HPO|N|
C4024327|An abnormality of the distal phalanx of the second finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.|HPO|N|
C4024328|A triangular appearance of the epiphyses of the 2nd finger of the hand.|HPO|N|
C4024329|The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 2nd finger.|HPO|N|
C4024330|Abnormally small size of the epiphyses of the 2nd finger with respect to age-dependent norms.|HPO|N|
C4024331|Sclerosis of the epiphyses of the 2nd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.|HPO|N|
C4024332|Irregular radiographic opacity of the epiphyses of the 2nd finger.|HPO|N|
C4024333|Fragmented appearance of the epiphyses of the 2nd finger.|HPO|N|
C4024334|Abnormally large size of the epiphyses of the 2nd finger with respect to age-dependent norms.|HPO|N|
C4024335|A cone-shaped appearance of the epiphyses of the 2nd finger of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx.|HPO|N|
C4024336|Absence of the epiphyses of the 2nd finger.|HPO|N|
C4024338|Displacement of the hand or of fingers of the hand from their normal position.|HPO|N|
C4024339|Fusion of the proximal phalanx of the 3rd finger with the 3rd metacarpal.|HPO|N|
C4024340|Fusion of the proximal and middle phalanges of the 3rd finger.|HPO|N|
C4024341|Fusion of the proximal phalanx of the 4th finger with the 4th metacarpal.|HPO|N|
C4024342|Fusion of the proximal and middle phalanges of the 4th finger.|HPO|N|
C4024343|Chronic loss of joint motion of the metacarpophalangeal joint of the 3rd finger due to structural changes in non-bony tissue.|HPO|N|
C4024344|Chronic loss of joint motion of the distal interphalangeal joint of the 3rd finger due to structural changes in non-bony tissue.|HPO|N|
C4024345|Displacement of the 3rd finger towards the radial side (i.e., towards the thumb).|HPO|N|
C4024346|Absent 3rd finger.|HPO|N|
C4024347|Absence of the proximal phalanx of the 3rd finger.|HPO|N|
C4024349|Triangular shaped proximal phalanx of the 3rd (middle) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.|HPO|N|
C4024350|Fusion of the proximal phalanx of the 3rd finger with another bone.|HPO|N|
C4024351|Uneven (irregular) increase in bone density of the proximal phalanx of the third finger.|HPO|N|
C4024352|Dissolution or degeneration of bone tissue of the proximal phalanx of the 3rd finger.|HPO|N|
C4024353|Curved appearance of the proximal phalanx of the 3rd finger.|HPO|N|
C4024354|Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the 3rd finger is affected.|HPO|N|
C4024355|Increased width of the proximal phalanx of the 3rd finger.|HPO|N|
C4024357|Triangular shaped phalanges of the 3rd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.|HPO|N|
C4024358|Fusion of two or more bones of the 3rd finger.|HPO|N|
C4024359|Curved appearance of the phalanges of the 3rd finger.|HPO|N|
C4024360|A third finger with short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.|HPO|N|
C4024362|Triangular shaped middle phalanx of the 3rd (middle) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.|HPO|N|
C4024363|Fusion of the middle phalanx of the 3rd finger with another bone.|HPO|N|
C4024364|Uneven (irregular) increase in bone density of the middle phalanx of the third finger.|HPO|N|
C4024365|Dissolution or degeneration of bone tissue of the middle phalanx of the 3rd finger.|HPO|N|
C4024366|Curved appearance of the middle phalanx of the 3rd (middle) finger.|HPO|N|
C4024367|Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the middle phalanx of the 3rd finger is affected.|HPO|N|
C4024368|Absence of the distal phalanx of the middle (3rd) finger.|HPO|N|
C4024369|Curved appearance of the distal phalanx of the 3rd finger.|HPO|N|
C4024370|Triangular shaped distal phalanx of the 3rd (middle) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.|HPO|N|
C4024371|Uneven (irregular) increase in bone density of the distal phalanx of the third finger.|HPO|N|
C4024372|Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the 3rd finger is affected.|HPO|N|
C4024373|Increased width of the distal phalanx of the 3rd finger.|HPO|N|
C4024375|The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 3rd finger.|HPO|N|
C4024376|Abnormally small size of the epiphyses of the 3rd finger with respect to age-dependent norms.|HPO|N|
C4024377|Sclerosis of the epiphyses of the 3rd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.|HPO|N|
C4024378|Irregular radiographic opacity of the epiphyses of the 3rd finger.|HPO|N|
C4024379|Fragmented appearance of the epiphyses of the 3rd finger.|HPO|N|
C4024380|Abnormally large size of the epiphyses of the 3rd finger with respect to age-dependent norms.|HPO|N|
C4024381|A cone-shaped appearance of the epiphyses of the 3rd finger of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx.|HPO|N|
C4024382|An abnormality of the third finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.|HPO|N|
C4024383|Absence of the epiphyses of the 3rd finger.|HPO|N|
C4024385|Triangular shaped phalanges of the 4th finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.|HPO|N|
C4024386|A fourth finger with short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.|HPO|N|
C4024387|Increased width of the phalanges of the 4th finger.|HPO|N|
C4024388|The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 4th finger.|HPO|N|
C4024389|Abnormally small size of the epiphyses of the 4th finger with respect to age-dependent norms.|HPO|N|
C4024390|A secondary ossification center in the fourth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.|HPO|N|
C4024391|Sclerosis of the epiphyses of the 4th finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.|HPO|N|
C4024392|Irregular radiographic opacity of the epiphyses of the 4th finger.|HPO|N|
C4024393|Fragmented appearance of the epiphyses of the 4th finger.|HPO|N|
C4024394|Abnormally large size of the epiphyses of the 4th finger with respect to age-dependent norms.|HPO|N|
C4024395|A cone-shaped appearance of the epiphyses of the 4th finger of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx.|HPO|N|
C4024396|An abnormality of the fourth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.|HPO|N|
C4024397|Absence of one or more epiphyses of the 4th finger.|HPO|N|
C4024398|The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 5th finger.|HPO|N|
C4024399|Abnormally small size of the epiphyses of the 5th finger with respect to age-dependent norms.|HPO|N|
C4024400|A secondary ossification center in the fifth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.|HPO|N|
C4024401|Sclerosis of the epiphyses of the 5th finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.|HPO|N|
C4024402|Irregular radiographic opacity of the epiphyses of the 5th finger.|HPO|N|
C4024403|Fragmented appearance of the epiphyses of the 5th finger.|HPO|N|
C4024404|Abnormally large size of the epiphyses of the 5th finger with respect to age-dependent norms.|HPO|N|
C4024405|A cone-shaped appearance of the epiphyses of the 5th finger of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx.|HPO|N|
C4024406|An abnormality of the fifth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.|HPO|N|
C4024407|Absence of one or more epiphyses of the 5th finger.|HPO|N|
C4024408|Rhomboid or triangular shaped 5th (little) finger distal phalanx.|HPO|N|
C4024409|Triangular shaped phalanges of the 5th (little) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.|HPO|N|
C4024410|Aplasia/Hypoplasia of the phalanges of the 5th finger.|HPO|N|
C4024411|A fifth finger with short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.|HPO|N|
C4024412|Increased width of the phalanges of the 5th finger.|HPO|N|
C4024414|The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the 3rd finger.|HPO|N|
C4024415|Abnormally small size of the epiphysis located at the proximal end of the proximal phalanx of the 3rd finger with respect to age-dependent norms.|HPO|N|
C4024416|A secondary ossification center in the proximal phalanx of the third finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.|HPO|N|
C4024417|Sclerosis of the epiphysis of the proximal phalanx of the 3rd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.|HPO|N|
C4024418|Irregular radiographic opacity of the epiphysis of the proximal phalanx of the 3rd finger.|HPO|N|
C4024419|Fragmented appearance of the epiphysis of the proximal phalanx of the 3rd finger.|HPO|N|
C4024420|A cone-shaped appearance of the epiphysis of the proximal phalanx of the 3rd finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx.|HPO|N|
C4024421|An abnormality of the proximal phalanx of the third finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.|HPO|N|
C4024422|Absence of the epiphysis located at the proximal end of the proximal phalanx of the 3rd finger.|HPO|N|
C4024423|The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 3rd finger.|HPO|N|
C4024424|Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the 3rd finger with respect to age-dependent norms.|HPO|N|
C4024425|A secondary ossification center in the distal phalanx of the third finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.|HPO|N|
C4024426|Sclerosis of the epiphysis of the distal phalanx of the 3rd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.|HPO|N|
C4024427|Irregular radiographic opacity of the epiphysis of the distal phalanx of the 3rd finger.|HPO|N|
C4024428|Fragmented appearance of the epiphysis of the distal phalanx of the 3rd finger.|HPO|N|
C4024429|Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the 3rd finger with respect to age-dependent norms.|HPO|N|
C4024430|A cone-shaped appearance of the epiphysis of the distal phalanx of the 3rd finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx.|HPO|N|
C4024431|An abnormality of the distal phalanx of the third finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.|HPO|N|
C4024432|Absence of the epiphysis located at the proximal end of the distal phalanx of the 3rd finger.|HPO|N|
C4024436|The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the middle phalanx of the 3rd finger.|HPO|N|
C4024437|Abnormally small size of the epiphysis located at the proximal end of the middle phalanx of the 3rd finger with respect to age-dependent norms.|HPO|N|
C4024438|Sclerosis of the epiphysis of the middle phalanx of the 3rd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.|HPO|N|
C4024439|Irregular radiographic opacity of the epiphysis of the middle phalanx of the 3rd finger.|HPO|N|
C4024440|Fragmented appearance of the epiphysis of the middle phalanx of the 3rd finger.|HPO|N|
C4024441|Abnormally large size of the epiphysis located at the proximal end of the middle phalanx of the 3rd finger with respect to age-dependent norms.|HPO|N|
C4024442|A cone-shaped appearance of the epiphysis of the middle phalanx of the 3rd finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx.|HPO|N|
C4024443|An abnormality of the middle phalanx of the third finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.|HPO|N|
C4024444|Absence of the epiphysis located at the proximal end of the middle phalanx of the 3rd finger.|HPO|N|
C4024445|Abnormality of one or all of the epiphyses of the proximal, middle, and distal phalanges of the 3rd finger.|HPO|N|
C4024446|A small/hypoplastic or absent/aplastic 3rd (middle) finger.|HPO|N|
C4024447|Triangular shaped proximal phalanx of the 4th (ring) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.|HPO|N|
C4024448|Fusion of the proximal phalanx of the 4th finger with another bone.|HPO|N|
C4024449|Uneven (irregular) increase in bone density of the proximal phalanx of the fourth finger.|HPO|N|
C4024450|Dissolution or degeneration of bone tissue of the proximal phalanx of the 4th finger.|HPO|N|
C4024451|Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the 4th finger is affected.|HPO|N|
C4024452|Triangular shaped middle phalanx of the 4th (ring) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.|HPO|N|
C4024453|Fusion of the middle phalanx of the 4th finger with another bone.|HPO|N|
C4024454|Uneven (irregular) increase in bone density of the middle phalanx of the fourth finger.|HPO|N|
C4024455|Triangular shaped distal phalanx of the 4th (ring) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.|HPO|N|
C4024456|Uneven (irregular) increase in bone density of the distal phalanx of the fourth finger.|HPO|N|
C4024457|Dissolution or degeneration of bone tissue of the distal phalanx of the 4th finger.|HPO|N|
C4024458|Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the 4th finger is affected.|HPO|N|
C4024460|Absence of the proximal phalanx of the ring (4th) finger.|HPO|N|
C4024461|Dissolution or degeneration of bone tissue of the middle phalanx of the 4th finger.|HPO|N|
C4024462|Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the middle phalanx of the 4th finger is affected.|HPO|N|
C4024463|Increased width of the middle phalanx of the 4th finger.|HPO|N|
C4024464|Increased width of the distal phalanx of the 4th finger.|HPO|N|
C4024465|Absence of the distal phalanx of the ring (4th) finger.|HPO|N|
C4024468|Curved appearance of the middle phalanx of the 4th (ring) finger.|HPO|N|
C4024469|Curved appearance of the distal phalanx of the 4th (ring) finger.|HPO|N|
C4024470|Curved appearance of the phalanges of the 4th (ring) finger.|HPO|N|
C4024472|Absent 4th finger.|HPO|N|
C4024473|Displacement of the 4th finger towards the radial side (i.e., towards the thumb).|HPO|N|
C4024474|Displacement of the 4th finger towards the ulnar side (i.e., towards the 5th finger).|HPO|N|
C4024475|Chronic loss of joint motion of the metacarpophalangeal joint of the 4th finger due to structural changes in non-bony tissue.|HPO|N|
C4024476|Chronic loss of joint motion of the distal interphalangeal joint of the 4th finger due to structural changes in non-bony tissue.|HPO|N|
C4024477|Displacement of the 4th finger from its normal position.|HPO|N|
C4024478|A small/hypoplastic or absent/aplastic 4th (ring) finger.|HPO|N|
C4024479|The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the 4th finger.|HPO|N|
C4024480|Abnormally small size of the epiphysis located at the proximal end of the proximal phalanx of the 4th finger with respect to age-dependent norms.|HPO|N|
C4024481|A secondary ossification center in the proximal phalanx of the fourth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.|HPO|N|
C4024482|Sclerosis of the epiphysis of the proximal phalanx of the ring finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.|HPO|N|
C4024483|Irregular radiographic opacity of the epiphysis of the proximal phalanx of the 4th finger.|HPO|N|
C4024484|Fragmented appearance of the epiphysis of the proximal phalanx of the 4th finger.|HPO|N|
C4024485|Abnormally large size of the epiphysis located at the proximal end of the proximal phalanx of the 4th finger with respect to age-dependent norms.|HPO|N|
C4024486|A cone-shaped appearance of the epiphysis of the proximal phalanx of the ring finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx.|HPO|N|
C4024487|Absence of the epiphysis located at the proximal end of the proximal phalanx of the 4th finger.|HPO|N|
C4024488|The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 4th finger.|HPO|N|
C4024489|Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the 4th finger with respect to age-dependent norms.|HPO|N|
C4024490|A secondary ossification center in the distal phalanx of the fourth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.|HPO|N|
C4024491|Sclerosis of the epiphysis of the distal phalanx of the ring finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.|HPO|N|
C4024492|Irregular radiographic opacity of the epiphysis of the distal phalanx of the 4th finger.|HPO|N|
C4024493|Fragmented appearance of the epiphysis of the distal phalanx of the 4th finger.|HPO|N|
C4024494|Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the 4th finger with respect to age-dependent norms.|HPO|N|
C4024495|A cone-shaped appearance of the epiphysis of the distal phalanx of the ring finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx.|HPO|N|
C4024496|An abnormality of the distal phalanx of the fourth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.|HPO|N|
C4024497|Absence of the epiphysis located at the proximal end of the distal phalanx of the 4th finger.|HPO|N|
C4024501|Absence of the distal phalanx of the little (5th) finger.|HPO|N|
C4024502|Triangular shaped distal phalanx of the 5th (little) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.|HPO|N|
C4024503|Patchy increase in bone density of the distal phalanx of the 5th finger.|HPO|N|
C4024504|Dissolution or degeneration of bone tissue of the distal phalanx of the 5th finger.|HPO|N|
C4024505|Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the 5th finger is affected.|HPO|N|
C4024506|Increased width of the distal phalanx of the 5th finger.|HPO|N|
C4024508|Absent 5th (little) finger.|HPO|N|
C4024509|Rhomboid or triangular shaped 5th (little) finger proximal phalanx.|HPO|N|
C4024510|Fusion of the proximal phalanx of the 5th finger with the 5th metacarpal.|HPO|N|
C4024511|Triangular shaped proximal phalanx of the 5th (little) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.|HPO|N|
C4024512|Fusion of the proximal phalanx of the 5th finger with another bone.|HPO|N|
C4024513|Patchy increase in bone density of the proximal phalanx of the 5th finger.|HPO|N|
C4024514|Dissolution or degeneration of bone tissue of the proximal phalanx of the 5th finger.|HPO|N|
C4024515|Curved appearance of the proximal phalanx of the 5th finger.|HPO|N|
C4024516|Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the 5th finger is affected.|HPO|N|
C4024517|Absence of the proximal phalanx of the little (5th) finger.|HPO|N|
C4024518|The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the middle phalanx of the 4th finger.|HPO|N|
C4024519|Abnormally small size of the epiphysis located at the proximal end of the middle phalanx of the 4th finger with respect to age-dependent norms.|HPO|N|
C4024520|A secondary ossification center in the middle phalanx of the fourth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.|HPO|N|
C4024521|Sclerosis of the epiphysis of the middle phalanx of the ring finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.|HPO|N|
C4024522|Irregular radiographic opacity of the epiphysis of the middle phalanx of the 4th finger.|HPO|N|
C4024523|Fragmented appearance of the epiphysis of the middle phalanx of the 4th finger.|HPO|N|
C4024524|Abnormally large size of the epiphysis located at the proximal end of the middle phalanx of the 4th finger with respect to age-dependent norms.|HPO|N|
C4024525|A cone-shaped appearance of the epiphysis of the middle phalanx of the ring finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx.|HPO|N|
C4024526|An abnormality of the middle phalanx of the fourth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.|HPO|N|
C4024527|Absence of the epiphysis located at the proximal end of the middle phalanx of the 4th finger.|HPO|N|
C4024528|The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the middle phalanx of the 5th finger.|HPO|N|
C4024529|Abnormally small size of the epiphysis located at the proximal end of the middle phalanx of the 5th finger with respect to age-dependent norms.|HPO|N|
C4024530|A secondary ossification center in the middle phalanx of the fifth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.|HPO|N|
C4024531|Sclerosis of the epiphysis of the middle phalanx of the little finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.|HPO|N|
C4024532|Irregular radiographic opacity of the epiphysis of the middle phalanx of the 5th finger.|HPO|N|
C4024533|Fragmented appearance of the epiphysis of the middle phalanx of the 5th finger.|HPO|N|
C4024534|Abnormally large size of the epiphysis located at the proximal end of the middle phalanx of the 5th finger with respect to age-dependent norms.|HPO|N|
C4024535|A cone-shaped appearance of the epiphysis of the middle phalanx of the little finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx.|HPO|N|
C4024536|An abnormality of the middle phalanx of the fifth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.|HPO|N|
C4024537|Absence of the epiphysis located at the proximal end of the middle phalanx of the 5th finger.|HPO|N|
C4024538|Fragmented appearance of the epiphysis of the proximal phalanx of the 5th finger.|HPO|N|
C4024539|The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the 5th finger.|HPO|N|
C4024540|A secondary ossification center in the proximal phalanx of the fifth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.|HPO|N|
C4024541|Irregular radiographic opacity of the epiphysis of the proximal phalanx of the 5th finger.|HPO|N|
C4024542|An abnormality of the proximal phalanx of the fifth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.|HPO|N|
C4024543|Abnormally small size of the epiphyses located at the distal end of the metacarpals in respect to age-dependent norms.|HPO|N|
C4024544|Absence or underdevelopment (hypoplasia) of the proximal phalanx of the little (5th) finger.|HPO|N|
C4024545|Sclerosis of the epiphyses of the metacarpals, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.|HPO|N|
C4024546|Irregular radiographic opacity of the epiphyses of the metacarpals.|HPO|N|
C4024547|Fragmented appearance of the epiphyses of the metacarpals.|HPO|N|
C4024548|A secondary ossification center in the distal phalanx of the fifth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.|HPO|N|
C4024549|An abnormality of the distal phalanx of the fifth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.|HPO|N|
C4024550|Chronic loss of joint motion of the metacarpophalangeal joint of the 5th finger due to structural changes in non-bony tissue.|HPO|N|
C4024551|Chronic loss of joint motion of the distal interphalangeal joint of the 5th finger due to structural changes in non-bony tissue.|HPO|N|
C4024552|Triangular shaped middle phalanx of the 5th (little) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.|HPO|N|
C4024553|Displacement of the 5th finger towards the ulnar side.|HPO|N|
C4024554|Fusion of the middle phalanx of the 5th finger with another bone.|HPO|N|
C4024555|Patchy increase in bone density of the middle phalanx of the 5th finger.|HPO|N|
C4024556|Abnormality of one or all of the epiphyses of the proximal, middle, and distal phalanges of the 4th finger.|HPO|N|
C4024557|Curved appearance of the middle phalanx of the 5th finger.|HPO|N|
C4024558|A triangular appearance of the epiphyses of the metacarpals. Thess epiphyses are located at the distal end of the metacarpals.|HPO|N|
C4024559|Dissolution or degeneration of bone tissue of the middle phalanx of the 5th finger.|HPO|N|
C4024560|Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the middle phalanx of the 5th finger is affected.|HPO|N|
C4024561|Irregular radiographic opacity of the epiphysis of the distal phalanx of the 5th finger.|HPO|N|
C4024562|Fragmented appearance of the epiphysis of the distal phalanx of the 5th finger.|HPO|N|
C4024563|The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 5th finger.|HPO|N|
C4024564|Absence of the epiphysis located at the proximal end of the proximal phalanx of the 5th finger.|HPO|N|
C4024565|Abnormally small size of the epiphysis located at the proximal end of the proximal phalanx of the 5th finger with respect to age-dependent norms.|HPO|N|
C4024566|Abnormally large size of the epiphysis located at the proximal end of the proximal phalanx of the 5th finger with respect to age-dependent norms.|HPO|N|
C4024567|Sclerosis of the epiphysis of the proximal phalanx of the little finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.|HPO|N|
C4024568|Abnormality of the epiphysis of the proximal phalanx of the fifth finger. This epiphysis is located on the proximal end of the phalanx.|HPO|N|
C4024569|Abnormality of one or all of the epiphyses of the proximal, middle, and distal phalanges of the 5th finger.|HPO|N|
C4024570|Abnormality of the proximal phalanx of the little (5th) finger.|HPO|N|
C4024571|Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the 5th finger with respect to age-dependent norms.|HPO|N|
C4024572|Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the 5th finger with respect to age-dependent norms.|HPO|N|
C4024577|An abnormal union between bones or parts of bones lower limbs.|HPO|N|
C4024580|A disease or lesion affecting the muscles of the thorax.|HPO|N|
C4024583|An increase in adipose tissue mass by hyperplastic growth (increase in the number of adipocytes) or by hypertrophic growth (increase in the size of adipocytes occurring primarily by lipid accumulation within the cell).|HPO|N|
C4024585|Absence (due to failure to form) or underdevelopment of bones of the axial skeleton.|HPO|N|
C4024586|An abnormality of the axial skeleton, which comprises the skull, the vertebral column, the ribs and the sternum.|HPO|N|
C4024587|Absence or underdevelopment of a cranial sinus or sinuses.|HPO|N|
C4024588|Absence or underdevelopment of frontal sinus.|HPO|N|
C4024589|Absence or underdevelopment of the mandible.|HPO|N|
C4024590|Absence or underdevelopment of the maxilla.|HPO|N|
C4024592|Absence (due to failure to form) or underdevelopment of one or more components of the skeleton.|HPO|N|
C4024596|Abnormal ossification (bone tissue formation) affecting the pubic bone, also known as the pubis.|HPO|N|
C4024599|Chronic accumulation and overgrowth of the fungus Candida albicans on the mucous membranes of the mouth, generally manifested as associated with creamy white lesions on the tongue or inner cheeks, occasionally spreading to the gums, tonsils, palate or oropharynx.|HPO|N|
C4024603|Muscular atrophy involving the quadriceps muscle.|HPO|N|
C4024604|Atrophy of the muscles of the ankle.|HPO|N|
C4024605|Generalized weakness of the muscles of the arms and legs.|HPO|N|
C4024606|Loss (reduction of previously present) of subcutaneous adipose tissue in the gluteal region.|HPO|N|
C4024607|Sudden and involuntary contractions of one or more muscles of the leg brought on by physical exertion.|HPO|N|
C4024609|Decreased activity of the mitochondrial respiratory chain.|HPO|N|
C4024611|Muscular atrophy that does not display a progression in severity with time.|HPO|N|
C4024612|Muscle weakness affecting the tibialis anterior muscle.|HPO|N|
C4024613|Progressive muscular atrophy affecting muscles in the distal portions of the extremities.|HPO|N|
C4024615|A loss of adipose tissue.|HPO|N|
C4024616|A moderate degree of slow or limited growth after birth, being between three and four standard deviations below age- and sex-related norms.|HPO|N|
C4024617|Underdevelopment of the ischiopubic ramus, which is comprised of the inferior pubic ramus and the inferior ramus of the ischium.|HPO|N|
C4024618|Increased size of the ilium ala.|HPO|N|
C4024619|Increased width of the femoral head.|HPO|N|
C4024620|The sacroiliac joint in the bony pelvis connects the sacrum and the ilium of the pelvis, which are joined by strong ligaments. The notch is located directly superior to the joint. This term refers to a increase in the lateral dimension of the notch.|HPO|N|
C4024621|Developmental acceleration of ossification of the proximal epiphysis of the femur.|HPO|N|
C4024622|Abnormally wide morphology of the proximal epiphysis of the femur.|HPO|N|
C4024623|Increased width of the proximal part of the shaft (metaphysis) of the femur.|HPO|N|
C4024624|Any structural abnormality of the renal artery.|HPO|N|
C4024625|Aplasia or developmental hypoplasia of the inner ear.|HPO|N|
C4024626|The presence of aplasia or developmental hypoplasia of all or part of the external ear.|HPO|N|
C4024627|The presence of aplasia or developmental hypoplasia of the ear.|HPO|N|
C4024628|Absence of the epiglottis.|HPO|N|
C4024630|The presence of a partially duplicated kidney.|HPO|N|
C4024631|Renal hypophosphatemia is defined as reduced serum phosphate (e.g., below 0.70 mmol/l) and an inappropriately high renal phosphate excretion.|HPO|N|
C4024632|Unusual gonadal development in a person with a 46,XY male karyotype, leading to a more female sex differentiation.|HPO|N|
C4024636|Deposition of calcium salts in gonadal tissue.|HPO|N|
C4024639|Presence of a single diverticulum (sac or pouch) in the wall of the urinary bladder.|HPO|N|
C4024640|Absence or developmental hypoplasia of the uterus.|HPO|N|
C4024644|The presence of many cysts in the medulla of the kidney.|HPO|N|
C4024646|Aplasia or developmental hypoplasia of the fallopian tube.|HPO|N|
C4024653|A developmental anomaly of the ureter.|HPO|N|
C4024654|A form of sensorineural hearing impairment with onset after the acquisition of speech.|HPO|N|
C4024655|A condition in which the superior portion of the helix is folded over to a lesser degree than normal.|HPO|N|
C4024656|Complete lack of functioning of the vestibular apparatus.|HPO|N|
C4024658|Any structural abnormality of the coccyx.|HPO|N|
C4024660|Aplasia or developmental hypoplasia of the sacral bone.|HPO|N|
C4024664|The presence of a moderate form of sensorineural hearing impairment.|HPO|N|
C4024668|Early closure (ossification) of the anterior fontanelle, which generally undergoes closure around the 18th month of life.|HPO|N|
C4024670|Decreased ossification of the cervical vertebral bodies, i.e., of the Cervical vertebrae set.|HPO|N|
C4024675|Any abnormality of the atlas and the axis.|HPO|N|
C4024677|An abnormality of the shape of the lumbar vertebra L1 such that it is wedge-shaped (narrow towards the front).|HPO|N|
C4024678|The presence of punctiform calcification of the bone of the vertebral bodies.|HPO|N|
C4024679|Thickened toenails.|HPO|N|
C4024680|Detachment of the distal fingernails from the nail bed.|HPO|N|
C4024681|A thickening of the stratum corneum, the outer layer of the skin, in the region surrounding the nails.|HPO|N|
C4024682|A nail of the fifth finger that is diminished in length and width, i.e., underdeveloped nail of little finger.|HPO|N|
C4024683|Chronic infection of the nails by Candida species.|HPO|N|
C4024686|Concentration of vitamin A in the blood circulation outside limits of normal.|HPO|N|
C4024688|An abnormality of the talus.|HPO|N|
C4024689|An abnormality of the calcaneus, also known as the heel bone, one of the or heel bone, one of the components of the tarsus of the foot which make up the heel.|HPO|N|
C4024691|A neonatal decreased concentration of proteins in the blood.|HPO|N|
C4024692|Decreased activity of coagulation factor XIII (also known as fibrin stabilizing factor). Activated Factor XIII cross-links fibrin polymers solidifying the clot.|HPO|N|
C4024693|Reduced ability to transform factor X into its activated form factor Xa.|HPO|N|
C4024694|An abnormality of adhesion of thrombocytes. Normally, platelets adhere to collagen in the vascular subendothelium within seconds of injury via a receptor made up of glycoprotein Ia and IIa and GPVI and to vWF via receptor GPIb/IX/V. The adherent platelets then release granules that lead to platelet activation and aggregation.|HPO|N|
C4024696|Underdevelopment of the dilatator pupillae.|HPO|N|
C4024698|An increased urine level of any amino acid carrying two amino groups (Asparagine, glutamine and lysine, cystine, ornithine).|HPO|N|
C4024699|A partial reduction in level of the complement component Factor D in circulation.|HPO|N|
C4024701|Decreased activity of von Willebrand factor. Von Willebrand factor mediates the adhesion of platelets to the collagen exposed on endothelial cell surfaces.|HPO|N|
C4024702|Reduced activity of coagulation factor X. The extrinsic and intrinsic pathways converge at factor X (fX). The extrinsic pathway activates fX by means of d factor VII with its cofactor, tissue factor. The intrinsic pathway activates fX by means of the tenase complex (Ca2+ and factors VIIIa, IXa and X) on the surface of activated platelets. Factor Xa in turn activates prothrombin (factor II) to thrombin (factor IIa).|HPO|N|
C4024703|Abnormal response to collagen or collagen-mimetics as manifested by reduced or lacking aggregation of platelets upon addition collagen or collagen-mimetics.|HPO|N|
C4024704|Increased alkaline phosphatase measured within leukocytes.|HPO|N|
C4024705|A reduction in the activity of the mitochondrial respiratory chain complex II, which is part of the electron transport chain in mitochondria.|HPO|N|
C4024707|Degeneration of the olivary bodies, prominent oval structures in the medulla oblongata.|HPO|N|
C4024708|A partial reduction in level of the complement component Factor H in circulation.|HPO|N|
C4024710|Atrophy (wasting) of the cerebellar cortex.|HPO|N|
C4024711|An abnormality of zinc ion homeostasis.|HPO|N|
C4024717|Developmental hypoplasia of the adrenal medulla.|HPO|N|
C4024718|The presence of multiple pancreatic islet cell adenomas.|HPO|N|
C4024720|An abnormal reduction in the Arden ratio, which is the ratio between the light peak and the dark trough of the smoothed (physiologic) EOG record.|HPO|N|
C4024722|Reduced activity of coagulation factor VII. Factor VII is part of the extrinsic coagulation pathway, which is initiated at the site of injury in response to the release of tissue factor (fIII). Tissue factor and activated factor VII catalyze the activation of factor X.|HPO|N|
C4024723|Reduced proportion of helper T cells relative to the total number of T cells.|HPO|N|
C4024724|Alkaline phosphatase levels measured within leukocytes is below detectable levels.|HPO|N|
C4024725|The concentration of 2-hydroxydicarboxylic acid in the urine, normalized for urine concentration, is above the upper limit of normal.|HPO|N|
C4024726|Excessive amounts of mucopolysaccharide in the urine.|HPO|N|
C4024727|Abnormal response to epinephrine as manifested by reduced or lacking aggregation of platelets upon addition of epinephrine.|HPO|N|
C4024728|Delayed maturation and calcification of the calcaneus.|HPO|N|
C4024730|Synostosis of the calcaneus with the navicular bone.|HPO|N|
C4024731|Limitation of the ability to bend the toes.|HPO|N|
C4024733|An anomaly of the fifth metatarsal bone.|HPO|N|
C4024734|An abnormally low concentration of serum conjugated estriol as compared to normal values for gestational-age.|HPO|N|
C4024735|Virilization (deepening of voice, facial hirsutism and scalp hair loss) with onset during pregnancy (usually towards the end of the first trimester) and regression several months post-partum.|HPO|N|
C4024738|Absence or underdevelopment of the lens.|HPO|N|
C4024739|Absence or underdevelopment of the anterior segment of the eye.|HPO|N|
C4024741|Congenital absence or underdevelopment of the fovea centralis.|HPO|N|
C4024746|Absence or underdevelopment of the uvea, the pigmented middle layer of the eye consisting of the iris and ciliary body together with the choroid.|HPO|N|
C4024747|Any abnormality of the blood vessels of the conjunctiva.|HPO|N|
C4024748|Absence or underdevelopment of the iris.|HPO|N|
C4024750|An anomaly of the space between the medial and lateral canthi of the two open eyelids.|HPO|N|
C4024751|An abnormality of an extraocular muscle.|HPO|N|
C4024753|A structural abnormality of retinal vasculature.|HPO|N|
C4024755|Microscopic aneurysms of the retinal arterioles near the central part of the fundus, visible as small round dark red dots on the retinal surface (not arising from visible vessels) that are by definition less than the diameter of the major optic veins as they cross the optic disc.|HPO|N|
C4024756|Abnormality of macular or foveal pigmentation.|HPO|N|
C4024757|Congenital malformation of the lacrimal duct associated with incomplete development of the bony nasolacrimal canal or craniofacial anomalies.|HPO|N|
C4024758|Retinal exudate within the retinal tissue itself.|HPO|N|
C4024759|Decreased amount of pigmentation in the macula lutea.|HPO|N|
C4024761|Blockage of retinal arteriole, generally associated with interruption of blood flow and oxygen delivery to affected regions of the retina.|HPO|N|
C4024762|A spectrum of fundoscopic appearances characterized by the development of a variety of patterns of deposits predominantly in the macular area. The deposits are typically bilateral, relatively symmetrical, yellow/white and associated with changes at the level of the retinal pigment epithelium. With time, retinal atrophy may occur. A number of pattern dystrophy subtypes have been described including butterfly-shaped dystrophy, reticular dystrophy (net-like pattern) and fundus pulverulentus (granular, mottled pigmentation).|HPO|N|
C4024765|Chorioretinal atrophy concentrated around the optic papilla (i.e., the optic nerve head).|HPO|N|
C4024767|A type of posterior cortical cataract characterized by dense lenticular opacities.|HPO|N|
C4024769|A type of retinal reticular pigmentation that forms a polygonal, netlike arrangement of hyperpigmented lines forming geometric patterns in the fundus.|HPO|N|
C4024770|Congenital abnormal dilation of the pupil on both sides.|HPO|N|
C4024771|Separation of the inner layers of the retina (neural retina) from the pigment epithelium occuring near the outer limit (periphery) of the retina.|HPO|N|
C4024772|Anomaly of the visual evoked potentials elicited by a flash stimulus, generally a flash of light subtending an angle of at least 20 degrees of the visual field and presented in a dimly lit room.|HPO|N|
C4024773|A congenital defect resulting in absence of the lacrimal duct.|HPO|N|
C4024776|A type of of patterned retinal dystrophy that shows a reticular pattern of pigmentation.|HPO|N|
C4024777|Congenital absence of the extraocular muscles.|HPO|N|
C4024780|A shape created by an acute downward arching of the upper eyelid and upward arching of the lower eyelid, toward the medial canthus, which gives the outline of the palpebral fissures the configuration of an almond. Thus, the maximum distance between the fissures is offset from, and medial to, the center point.|HPO|N|
C4024781|Fibrosis of only some of the external ocular muscles such that the eyes of affected individuals are partially or completely fixed in a strabismic position.|HPO|N|
C4024784|Deposition of hyaline extracellular material (amyloid) into the vitreous humor, which can manifest as vitreous opacities and reduced visual acuity.|HPO|N|
C4024785|Increased length of the upper eyelashes.|HPO|N|
C4024789|Nonprogressive restriction of movement of the external ocular muscles such that the eyes of affected individuals are partially or completely fixed in a strabismic position. Residual eye movements are significantly limited.|HPO|N|
C4024790|Inability to see well at night or in poor light with onset in adulthood.|HPO|N|
C4024794|A supranuclear gaze palsy is an inability to look in a horizontal direction as a result of cerebral impairment. There is a loss of the voluntary aspect of eye movements, but, as the brainstem is still intact, all the reflex conjugate eye movements are normal.|HPO|N|
C4024795|A form of uveitis that is not associated with the formation of granulomas.|HPO|N|
C4024799|Mottled (spotted or blotched with different shades) pigmentary abnormality of the macula lutea.|HPO|N|
C4024800|Wasting (atrophy) of the retinal pigment epithelium present in small, isolated areas.|HPO|N|
C4024803|A type of retinal neovascularization that affects the posterior pole of the retina.|HPO|N|
C4024809|Abnormal development of the choroid and retina.|HPO|N|
C4024810|A chronic irritative conjunctivitis, which commonly presents with general irritation and redness of the eyes, with a burning, dry, or foreign-body sensation of the eyes.|HPO|N|
C4024814|Underdevelopment of the lower eyelid.|HPO|N|
C4024817|Vitelliform maculopathy is a sharply demarcated lesion caused by the accumulation of material, often lipofuscin in the subretinal space underlying the macula.|HPO|N|
C4024821|Opacity of the entire lens nucleus.|HPO|N|
C4024822|A congenital defect of development characterized by absence of the lacrimal gland.|HPO|N|
C4024823|Congenital abnormality of the extraocular muscles.|HPO|N|
C4024824|Lack of eyelashes on the lower lid.|HPO|N|
C4024825|Tractional retinal detachment at the periphery of the retina.|HPO|N|
C4024829|Naevus flammeus localized in the skin of the neck. This is one of the most common birthmarks and present in approximately 25% of all newborns.|HPO|N|
C4024832|An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body because of decreased osmotic pressure of plasma (hypoproteinemia).|HPO|N|
C4024838|The presence of multiple subcutaneous lipoma that cause pain.|HPO|N|
C4024841|A neurofibroma (benign peripheral nerve sheath tumor) localized in the palm of the hand.|HPO|N|
C4024843|A form of atopic dermatitis with onset in adulthood characterized by atopic red face, chronic lichenified eczema on the trunk, subacute or psoriasiform dermatitis.|HPO|N|
C4024844|Seborrheic dermatitis that is not localized to any one particular region.|HPO|N|
C4024848|Lack of skin pigmentation (coloring) of the anterior chest.|HPO|N|
C4024850|Loss of hair in the occipital region of the scalp with congenital onset.|HPO|N|
C4024851|A palmoplantar keratosis characterized by keratoses with a "raindrop" pattern on the palmoplantar surface, skin lesions which may involve the whole of the palmoplantar surface, or may be more restricted in their distribution.|MONDO|N|
C4024856|Loose and sagging skin of the fingers.|HPO|N|
C4024857|Tiny bumps of thickened skin (hyperkeratosis) on the palms of the hands.|HPO|N|
C4024862|Increased susceptibility to staphylococcal infections, as manifested by recurrent episodes of staphylococcal infections.|HPO|N|
C4024867|Increased amount of keratin (visible as white scales) surrounding hair follicles.|HPO|N|
C4024868|Keratinization of the bulbar conjunctiva near the limbus (corneoscleral junction), resulting in a raised spot.|HPO|N|
C4024871|Prominent thoracic and abdominal veins.|HPO|N|
C4024873|Lichenification affecting primarily flexural areas of the skin.|HPO|N|
C4024874|Inability to sweat on the same side of the face that is affected by ptosis and miosis. This is a feature of Horner syndrome.|HPO|N|
C4024876|A type of blistering that affects the skin of the palms of the hands and the soles of the feet.|HPO|N|
C4024881|The presence of two to five cafe-au-lait macules.|HPO|N|
C4024882|Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the oral mucosa.|HPO|N|
C4024889|Photosensitivity of the skin occurring early in life.|HPO|N|
C4024894|An abnormality of the septum pellucidum, which is a thin, triangular, vertical membrane separating the lateral ventricles of the brain.|HPO|N|
C4024896|Wasting involving the motor neuron.|HPO|N|
C4024898|The presence of atrophy (wasting) of the cerebrum, also known as the telencephalon, the largest and most highly developed part of the human brain.|HPO|N|
C4024905|A structural abnormality of the pons.|HPO|N|
C4024906|Focal seizure characterized at onset by clonic movements affecting half of the face.|HPO|N|
C4024910|Nystagmus consisting of horizontal to-and-fro eye movements, in which the movement in one direction is faster than in the other.|HPO|N|
C4024913|Agenesis of the midbrain.|HPO|N|
C4024914|A symmetric loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system.|HPO|N|
C4024915|Alternating and recurrent weakness of the external ocular muscles.|HPO|N|
C4024920|A reduction in the amplitude of sensory nerve action potential in distal nerve segments. This feature is measured by nerve conduction studies.|HPO|N|
C4024921|Muscular atrophy affecting the lower limb.|HPO|N|
C4024922|Presence of irregular redundant loops of focally folded myelin in a peripheral nerve.|HPO|N|
C4024924|The formation of the formation of fibrofatty lesions in the wall of an artery located in the brain.|HPO|N|
C4024925|Recurrent episodes of severe hypersomnia are accompanied by cognitive and behavioral disturbances, including confusion, derealization, apathy, compulsive eating, and hypersexuality.|HPO|N|
C4024926|A lighter than expected T2 signal on magnetic resonance imaging (MRI) of the basal ganglia. This term refers to a localized hyperintensity affecting a particular region of the basal ganglia.|HPO|N|
C4024927|Reduced amount of myelin in the nervous system resulting from defective myelinogenesis in the peripheral nervous system.|HPO|N|
C4024928|A complete lack of the ability to track objects with the ocular smooth pursuit system, a class of rather slow eye movements that minimizes retinal target motion.|HPO|N|
C4024930|A diffuse loss of myelin from nerve fibers in the central nervous system.|HPO|N|
C4024931|Stiffness of the limbs (a condition in which muscles cannot be moved quickly without accompanying pain or spasm) occurring in an asymmetric pattern.|HPO|N|
C4024933|Acute progressive areflexic weakness and mild sensory changes resulting from myelin breakdown and axonal degeneration.|HPO|N|
C4024935|A particular type of dementia characterized by a pattern of mental defects consisting prominently of forgetfulness, slowness of thought processes, and personality or mood change.|HPO|N|
C4024936|Atrophy of the temporal cortex.|HPO|N|
C4024938|A loss of myelin from the internode regions along myelinated nerve fibers from segments of the peripheral nervous system.|HPO|N|
C4024941|An increase in size of the third ventricle.|HPO|N|
C4024943|A reduction in the amplitude of sensory nerve action potential. This feature is measured by nerve conduction studies.|HPO|N|
C4024945|Generalized atrophy or hypoplasia of the cerebrum.|HPO|N|
C4024951|A morphological abnormality of the metencephalon.|HPO|N|
C4024952|The formation of small cavities in the tissue of the basal ganglia.|HPO|N|
C4024954|A type of gliosis that occurs in the vicinity of injured neurons.|HPO|N|
C4024956|Deficit in grammar, including syntax and morphology.|HPO|N|
C4024957|Proximal spinal muscular atrophy, i.e., muscular weakness and atrophy related to loss of the motor neurons of the spinal cord and brainstem.|HPO|N|
C4024958|Relatively short-lived periods of psychosis are characterized by the sudden onset of severe disturbances in perception, thinking, and behavior. These episodes typically last for a brief duration, generally ranging from a few days to a few weeks, and are often triggered by a significant stressor or traumatic event.|HPO|N|
C4024959|The presence of developmental dysplasia of the cortex of frontal lobe and the cortex of parietal lobe.|HPO|N|
C4024960|Excessive number of small gyri (convolutions) on the surface of one side of the brain.|HPO|N|
C4024962|Stiffness (a condition in which muscles cannot be moved quickly without accompanying pain or spasm) of the axial musculature.|HPO|N|
C4024964|Curvilinear intracellular accumulation of autofluorescent lipopigment storage material within axons.|HPO|N|
C4024965|Atrophy of the frontal cortex.|HPO|N|
C4024966|The presence of calcium deposition within brain structures that is present already at the time of birth.|HPO|N|
C4024971|A diffuse loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system.|HPO|N|
C4024972|A symmetric and progressive loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system.|HPO|N|
C4024976|The occurrence of repeated episodes of generalized muscular hypotonia.|HPO|N|
C4024978|Perceptual experiences that are vivid, intense, and sensory in nature occur in the absence of corresponding stimuli from the external environment.|HPO|N|
C4024979|The presence of a papillary adenocarcinoma of the ovary.|HPO|N|
C4024983|The presence of a carcinoma in the renal pelvis.|HPO|N|
C4024985|A neurofibroma (benign peripheral nerve sheath tumor) localized adjacent to the spine.|HPO|N|
C4024987|A paraganglioma (previously refered to as chemodectoma) located in the retroperitoneal space. Paragangliomas (also known as extra-adrenal pheochromocytomas) are rare tumors that arise from extra-adrenal chromaffin cells. Paragangliomas are characterized by secretions of excessive catecholamines, including epinephrine, norepinephrine and dopamine, which may lead to clinical symptoms, including episodic hypertension, tachycardia and diaphoresis. However, between 40 and 50% of paragangliomas are non-functional.|HPO|N|
C4024993|Absence or underdevelopment of the clavicles (collar bones).|HPO|N|
C4024994|An abnormality of the hepatic vasculature.|HPO|N|
C4024995|An abnormality of an atrioventricular valve.|HPO|N|
C4025000|Steatosis in the myocardium.|HPO|N|
C4025001|Abnormally short chordae tendineae of the tricuspid valve.|HPO|N|
C4025002|A benign tumor of connective tissue containing mucous or gelatinous material (myxoma) localized in the pumonic valve.|HPO|N|
C4025003|Abnormal tortuous (i.e., twisted) form of the aorta.|HPO|N|
C4025004|A form of ventricular preexcitation due to the presence of multiple accessory pathways for cardiac conduction.|HPO|N|
C4025005|An abnormality of filling of a ventricle with blood during diastole.|HPO|N|
C4025007|Inflammation of the coronary arteries involving a granulomatous response, i.e., a non-specific inflammatory response involving granulomas, defined as a compact organized collection of mature mononuclear phagocytes including epithelioid and giant cells.|HPO|N|
C4025010|An abnormal morphology of the ribs consisting of shorted, abnormally curved ribs. On posteroanterior chest radiography, the ribs show a curvature resembling that of a coat hanger (clothes hanger).|HPO|N|
C4025013|Osteosclerosis of ribs (increased density related to increased bone mass).|HPO|N|
C4025016|An abnormally straight configuration of the clavicle, a tubular bone which normally is doubly curved .|HPO|N|
C4025018|An abnormal reduction in the number of mitochondria in hepatocytes.|HPO|N|
C4025020|An acute form of hepatic steatosis.|HPO|N|
C4025021|An abnormal increase in the amount of intracellular lipid droplets in hepatocytes.|HPO|N|
C4025022|Decreased activity of complex III of the mitochondrion in the liver.|HPO|N|
C4025023|A type of pulmonary sequestration that is completely enclosed in its own pleural sac, occurring above, within, or below the diaphragm, and without communication with the tracheobronchial tree.|HPO|N|
C4025026|An abnormality of the pulmonary lymphatic chain.|HPO|N|
C4025031|Absence (due to failure to form) or underdevelopment of the humerus.|HPO|N|
C4025032|Absence (due to failure to form) or underdevelopment of one or more forearm bones.|HPO|N|
C4025033|Absence or underdevelopment of the carpal bones.|HPO|N|
C4025034|An anomaly of a growth plate of a femur.|HPO|N|
C4025035|Absence (due to failure to form) or underdevelopment of the bones of the upper limbs.|HPO|N|
C4025037|Absence (due to failure to form) or underdevelopment of the bones of the lower limbs.|HPO|N|
C4025040|An anomaly of the femoral metaphysis.|HPO|N|
C4025042|An abnormality of the dental pulp.|HPO|N|
C4025043|An abnormality of the islet of Langerhans, i.e., of the regions of the pancreas that contain its endocrine cells. These are the alpha cells, which produce glucagon, the beta cells, which produce insulin and amylin, the delta cells, which produce somatostatin, the PP cells, which produce pancreatic polypeptide, and the epsilon cells, which produce ghrelin.|HPO|N|
C4025045|Anomaly of the contour of the proximal epiphysis of the tibia such that its normally smooth appearance is irregular.|HPO|N|
C4025046|Radial dysplasia, also known as radial longitudinal deficiency, includes radial clubhand and is a disfiguring, and potentially disabling, congenital limb anomaly. The entire upper limb may be involved, although the defect is most evident in the forearm and hand. Affected children suffer a variable degree of hypoplasia or absence of the preaxial skeleton and soft tissues, in particular the thumb, radius, and dorsoradial soft tissues. The hand is usually radially deviated and subluxated off the distal aspect of the ulna, the ulna may be shortened and have a bow-shaped deformity, and there is no true wrist (radiocarpal) joint in Bayne2 type-III and IV radial dysplasia.|HPO|N|
C4025047|An anomaly of the metaphysis of the proximal femur (close to the hip).|HPO|N|
C4025048|Increased length of the radius.|HPO|N|
C4025050|Anomaly of the contour of the Distal epiphysis of femur such that its normally smooth appearance is irregular.|HPO|N|
C4025052|The femur is shortened and displays flaring (widening) of the metaphyses.|HPO|N|
C4025053|Increased width of the diaphysis of long bones.|HPO|N|
C4025054|Agenesis of lower secondary incisor or lower primary incisor.|HPO|N|
C4025055|Developmental hypoplasia of the tooth germ, i.e., of the structure that forms in odontogenesis that will develop into a tooth.|HPO|N|
C4025056|Lack of tooth eruption of the secondary dentition.|HPO|N|
C4025057|Mineralized substance filling the entire dental pulp space.|HPO|N|
C4025058|An abnormality of morphology of the incisor tooth in which the tooth is shaped like a screwdriver blade, i.e., having a rhomboid shape.|HPO|N|
C4025059|An abnormality of morphology of primary molar.|HPO|N|
C4025060|A tooth crown with its mesial and distal sides converging or tapering toward the incisal edge causing severe reduction of mesiodistal diameter|HPO|N|
C4025061|An abnormality of the morphology of secondary premolar tooth.|HPO|N|
C4025062|The presence of a supernumerary, i.e., extra, maxillary incisor, either the primary maxillary incisor or the permanent maxillary incisor.|HPO|N|
C4025065|A generalized form of microdontia.|HPO|N|
C4025067|Dagger-shaped calcifications in the dental pulp.|HPO|N|
C4025068|Agenesis of upper secondary incisor or of upper central primary incisor.|HPO|N|
C4025069|The presence of multiple embedded tooth germs which have failed to erupt.|HPO|N|
C4025070|A generalized form of developmental hypoplasia of the dental enamel.|HPO|N|
C4025071|Small/hypoplastic or absent/aplastic fingers.|HPO|N|
C4025072|A small/hypoplastic or absent/aplastic 2nd finger.|HPO|N|
C4025073|Abnormality of one or all of the epiphyses of the proximal, middle, and distal phalanges of the 2nd finger.|HPO|N|
C4025074|A small/hypoplastic or absent/aplastic 5th finger.|HPO|N|
C4025077|Decreased width of the metacarpal bones (that is, reduced diameter).|HPO|N|
C4025078|A reduction in diameter of the distal phalanx of finger towards the distal end such that the tip of the phalanx comes to a point (this feature can be observed on radiograms).|HPO|N|
C4025080|Presence of an additional phalanx-like bone, producing an extra, wedge-shaped bone at the base of the proximal phalanx of the second finger.|HPO|N|
C4025081|Alteration of the normally smooth radiographic contour of phalanges producing an irregular appearance.|HPO|N|
C4025083|The middle phalanx of finger resembles a thimble, a small metal cap to protect the finger while sewing that has a broad (proximal) base and narrower top, whereby both base and top are flat.|HPO|N|
C4025084|Phalanges of the fingers becoming thinner toward the distal end.|HPO|N|
C4025086|Irregular morphology of one or more metacarpal bones.|HPO|N|
C4025087|Increased length of multiple or a single phalanx of finger.|HPO|N|
C4025088|Increased side-to-side width of the metacarpal epiphyses.|HPO|N|
C4025089|Congenital hypoplasia of proximal phalanx of finger or all fingers.|HPO|N|
C4025090|Increased length of the proximal phalanx of finger.|HPO|N|
C4025091|Metacarpal that becomes thinner toward the distal end.|HPO|N|
C4025092|Increased mobility of one ore more metacarpophalangeal joint.|HPO|N|
C4025093|Severely shortened metacarpal with a cuboidal appearance.|HPO|N|
C4025094|A reduction in phenylalanine 4-monooxygenase level.|HPO|N|
C4025095|A decreased concentration of arginine in the blood.|HPO|N|
C4025100|Abnormal arrangement of the structures of the motile cilium.|HPO|N|
C4025102|An abnormality of corticomedullary differentiation (CMD) on diagnostic imaging such as magnetic resonance imaging, computer tomography, or sonography. CMD is a difference in the visualization of cortex and medulla.|HPO|N|
C4025105|An anomaly of the outer shell (cortex) of a hand bone.|HPO|N|
C4025107|Any abnormality of the epiphyses of the phalanges or metacarpal bones.|HPO|N|
C4025109|Any structural anomaly of the hand.|HPO|N|
C4025112|Duplication of the metacarpal I bones.|HPO|N|
C4025113|A developmental defect characterized by the abnormal fusion of the proximal tibia and fibula.|HPO|N|
C4025114|Absence of a digit or of one or more phalanges of a finger.|HPO|N|
C4025115|A lack of bone mineralization of one or more body of cervical vertebra.|HPO|N|
C4025117|Fusion of a metacarpal bone with the proximal phalanx of the finger distal to it across the corresponding metacarpophalangeal joint.|HPO|N|
C4025121|An enchondroma is a benign growth of cartilage that develops within the medullary cavity of bone. Enchondromatosis refers to the presence of multiple enchondromas, and this term refers to the presence of multiple enchondromas within the medulla of metaphyseal bone. Radiographically an enchondroma presents a an oval, linear, or pyramidal osteolytic (radiolucent) lesion with well defined margins.|HPO|N|
C4025122|A form of triphalangeal thumb that can be placed opposite the fingers of the same hand.|HPO|N|
C4025125|Generalized deposition of calcium salts within the cerebrum.|HPO|N|
C4025126|An abnormally round shape of the middle phalanx of the finger.|HPO|N|
C4025132|Abnormally short distal phalanx of toe of all toes.|HPO|N|
C4025133|Abnormal thickening of the cortex of the diaphyseal region of long bones.|HPO|N|
C4025136|A flattened vertebral body shape with reduced distance beween the vertebral endplates affecting the lumbar spine.|HPO|N|
C4025139|Bending or curvature of the distal phalanx of little finger in the radial direction (i.e., towards the 4th finger).|HPO|N|
C4025141|An abnormally small and flat configuration of the posterior cranial fossa.|HPO|N|
C4025145|An abnormal irregularity of cortical bone.|HPO|N|
C4025148|The ability of the thumb joints to move beyond their normal range of motion.|HPO|N|
C4025149|Abnormal reduction in length of all metacarpal bones.|HPO|N|
C4025156|A tongue-like protusion from the anterior aspect of lumbar vertebral bodies.|HPO|N|
C4025159|Deposition of calcium salts on both sides of the cerebrum.|HPO|N|
C4025160|Extreme thickening of the cortex of long bones.|HPO|N|
C4025161|A foot deformity resulting due to an abnormality affecting the muscle and soft tissue. In contrast if the bones of the foot are affected the term structural foot deformity applies.|HPO|N|
C4025162|Multiple exostoses originating in the fingers and toes.|HPO|N|
C4025163|Moderate osteoporosis.|HPO|N|
C4025164|Sclerosis (abnormal hardening) of cortical bone, characterized by increased radiodensity.|HPO|N|
C4025165|A soft tissue continuity in the anteroposterior axis between the second to the fifth fingers that extends distally to at least the level of the proximal interphalangeal joints.|HPO|N|
C4025166|Underdevelopment of the ulna on both sides.|HPO|N|
C4025169|Bony fusion of the posterior part of the L5 vertebral body with the sacrum.|HPO|N|
C4025170|Osteoporosis affecting predominantly the vertebrae.|HPO|N|
C4025171|An anomalous trapezoidal appearance of a vertebral body. A trapezoid is a four-sided shape that has two sides that are parallel and two sides that are not parallel. In this case, the two lateral sides of the vertebra are parallel, and the top and the bottom are slanted with respect to each other such that the vertebra is shorter in the fron or back than on the other side.|HPO|N|
C4025172|The ability of the interphalangeal joints to move beyond their normal range of motion.|HPO|N|
C4025174|Large hypermelanotic macules with jagged borders.|HPO|N|
C4025175|Loss of all scalp hair with congenital onset.|HPO|N|
C4025176|A type of proximal renal tubulopathy characterized by resorption defects leading to glycosuria, aminoaciduria, tubular proteinuria, renal hypophosphatemia, and urate tubular hyporeabsorption without bicarbonate loss.|HPO|N|
C4025177|Normal hemoglobin synthesis is characterized by production of equal amounts of alpha and beta globins. This term refers to a deviation from this pattern and is the main characteristic of the various forms of thalassemia.|HPO|N|
C4025179|An abnormality of the zygomatic arch, also known as the cheek bone.|HPO|N|
C4025180|The frontal suture divides the two halves of the frontal bone of the skull in infants and children and generally undergoes fusion by the age of six. A persistent frontal suture is referred to as a "metopic suture".|HPO|N|
C4025181|A form of lymphoid leukemia or lymphoma in which too many T-cell lymphoblasts are found in the blood, bone marrow, and tissues. Leukemia or lymphoma classification depends on which feature is more prominent.|HPO|N|
C4025182|A form of hemolytic anemia that can be triggered by exertion.|HPO|N|
C4025186|A type of T-cell lymphoma in which cancerous T-cells may present in the blood (leukemia), lymph nodes (lymphoma), skin or in multiple areas.|HPO|N|
C4025187|Increased megakaryocyte number, i.e., of platelet precursor cells, present in the bone marrow.|HPO|N|
C4025188|A reduction in the ability of neutrophils to kill the gram-positive bacteria, staphylococcus, which is commonly known as staph.|HPO|N|
C4025189|The frontal suture divides the two halves of the frontal bone in infants and usually fuses by the age of six years. The suture runs from the bregma (the point on the skull at which the coronal suture is intersected perpendicularly by the sagittal suture) to the nasion or nasal root. This term applies if the suture is widely patent from bregma to nasal root.|HPO|N|
C4025190|An abnormality of the epiglottis.|HPO|N|
C4025191|A deviation in any aspect of the alternative complement pathway.|HPO|N|
C4025193|Abnormally increased density of craniofacial bone tissue.|HPO|N|
C4025194|Lack (aplasia) of the ethmoidal sinus.|HPO|N|
C4025195|An increased density in the cranial sutures following obliteration.|HPO|N|
C4025196|Increased susceptibility to systemic pyogenic infections, as manifested by recurrent episodes of systemic pyogenic infections.|HPO|N|
C4025197|Lack of detectible CD8-positive T cells|HPO|N|
C4025198|Increased susceptibility to infection by gram-negative bacteria, as manifested by a medical history of repeated or frequent infections by these agents.|HPO|N|
C4025199|Persistent overgrowth of Candida albicans in the gastrointestinal tract.|HPO|N|
C4025201|An abnormal reduction of the cell motility of neutrophils.|HPO|N|
C4025202|Increased susceptibility to protozoan infections, as manifested by recurrent episodes of protozoan infection.|HPO|N|
C4025204|Increased susceptibility to Haemophilus influenzae infections as manifested by recurrent episodes of infection by Haemophilus influenzae.|HPO|N|
C4025207|Increased susceptibility to herpesvirus, as manifested by recurrent episodes of herpesvirus.|HPO|N|
C4025208|A primary immune deficiency that is characterized by defects or deficiencies of T-lymphocytes that causes specific susceptibility to intracellular micro-organisms.|HPO|N|
C4025211|Any structural abnormality of the carotid arteries, including the common carotid artery and its' arterial branches.|HPO|N|
C4025212|Abnormal bladder function (increased urge or frequency of urination or urge incontinence) resulting from abnormal functioning of the autonomic nervous system.|HPO|N|
C4025213|An abnormality of the complement system.|HPO|N|
C4025215|An abnormality of the gestures or movements executed with the facial muscles with which emotions such as fear, joy, sadness, surprise, and disgust can be expressed.|HPO|N|
C4025217|Formation of excess fibrous connective tissue in the tunica intima (innermost layer) of arteries in the pulmonary circulation.|HPO|N|
C4025218|A type of vasculitis (inflammation of blood vessel walls) affecting large arteries such as the aorta and branches of the aorta.|HPO|N|
C4025224|An abnormality of the jejunum, i.e., of the middle section of the small intestine.|HPO|N|
C4025228|Failure to form of portions of the abdominal musculature.|HPO|N|
C4025230|The presence of degenerative changes of the liver.|HPO|N|
C4025231|A form of chronic pancreatitis that is characterized by calcification.|HPO|N|
C4025235|Increased susceptibility to Giardia lamblia infection of the intestine, as manifested by a medical history of multiple episodes of Giardia lamblia intestinal infection.|HPO|N|
C4025237|Interphalangeal joint stiffness is a perceived sensation of tightness in the interphalangeal joints when attempting to move them after a period of inactivity.|HPO|N|
C4025238|A sensation of stiffness in the joints that occurs following waking up in the morning.|HPO|N|
C4025240|Abnormally flat shape of the heads of the metatarsal bones.|HPO|N|
C4025244|An impairment of the electrical continuity between the atria and ventricles.|HPO|N|
C4025246|Any structural abnormality of a cardiac atrium.|HPO|N|
C4025249|Any structural abnormality of the intervertebral disk.|HPO|N|
C4025250|An abnormality of the sacral bone.|HPO|N|
C4025251|Any abnormality of the vertebral end plates, which are the top and bottom portions of the vertebral bodies that interface with the vertebral disks.|HPO|N|
C4025253|The presence of streaks (bands) of abnormally increased density of metaphyseal bone.|HPO|N|
C4025257|Developmental hypoplasia (shortening) of all phalanges of the foot.|HPO|N|
C4025259|The humerus is shortened and displays flaring (widening) of the metaphyses.|HPO|N|
C4025261|Absence or underdevelopment of the proximal epiphysis of the femur.|HPO|N|
C4025263|Coarctation of the aorta is a narrowing or constriction of a segment of the abdominal aorta.|HPO|N|
C4025264|Recurrent bleeding into the parenchyma of the brain.|HPO|N|
C4025265|Calcification, that is, pathological deposition of calcium salts in the tunica media of large (conduit) arteries.|HPO|N|
C4025267|A separation (dissection) of the layers of the extracranial portion of the internal carotid artery wall.|HPO|N|
C4025268|Increased pressure in the pre-hepatic portal vein.|HPO|N|
C4025269|Calcification, that is, pathological deposition of calcium salts, affecting arteries distributed throughout the body.|HPO|N|
C4025270|Arteriosclerosis (increased thickness, increased stiffness, loss of elasticity) of the small arteries of the brain.|HPO|N|
C4025272|Narrowing of peripheral arteries with reduction of blood flow to the limbs. This feature may be quantified as an ankle-brachial index of less than 0.9, and may be manifested clinically as claudication.|HPO|N|
C4025274|An abnormality of magnesium ion homeostasis.|HPO|N|
C4025276|A form of lactic acidemia with congenital onset.|HPO|N|
C4025277|A form of lactic acidemia that occurs following exercise or exertion.|HPO|N|
C4025278|A form of lactic acidemia that occurs in relation to stress or infection.|HPO|N|
C4025279|A state of respiratory distress that requires a life saving intervention in the form of gaining airway access and instituting positive pressure ventilation.|HPO|N|
C4025280|Increased susceptibility to respiratory infections in early life, as manifested by recurrent episodes of respiratory infections.|HPO|N|
C4025282|Abnormal platelet response to ADP as manifested by reduced or lacking aggregation of platelets upon addition of ADP.|HPO|N|
C4025284|An abnormality of coagulation related to a decreased concentration of vitamin K-dependent protein S. Protein S is a cofactor of protein C.|HPO|N|
C4025285|The presence of erythrocytes that are sphere-shaped and reduced in size.|HPO|N|
C4025286|Repeated episodes of obstruction of blood flow due to an embolus, i.e., blood clot that has traveled from its point of origin within the blood stream.|HPO|N|
C4025287|A type of megaloblastic anemia that does not improve upon administration of folate. Since vitamin B12 acts by promoting recycling of folate, administration of vitamin B12 also does not improve this type of anemia.|HPO|N|
C4025288|An excessive division of the lobes of the nucleus of a neutrophil.|HPO|N|
C4025289|A form of hemolytic anemia that is triggered by ingestion of certain drugs.|HPO|N|
C4025291|Underdevelopment of the small intestine.|HPO|N|
C4025292|Fluid retention and edema in the intestine caused by a compromised lymphatic system.|HPO|N|
C4025295|Hairy elbows is a rare form of localized hypertrichosis. The lanugo type of hair usually appears in infancy, becomes coarser during early childhood, and regresses at adolescence (summary by Visser et al., 2002).|OMIM|N|
C4025296|Fragile, easily breakable scalp hair.|HPO|N|
C4025298|Polymorphic ventricular arrhythmias of varying morphologythat do not exist under resting conditions but appear only upon physical exercise or catecholamine administration.|HPO|N|
C4025299|A form of atrioventricular (AV) dissociation (i.e., the atria and the ventricles are under the control of two separate pacemakers) with congenital onset.|HPO|N|
C4025300|An abnormality of the normal developmental rotation of the kidney leading to an abnormal axial orientation of the kidney.|HPO|N|
C4025301|Fusion of the C5 and C6 cervical vertebrae.|HPO|N|
C4025302|Anterior tongue-like protrusions of thoracic vertebral bodies.|HPO|N|
C4025303|Increased size of the vertebral pedicle.|HPO|N|
C4025304|The closed form of spina bifida with incomplete closure of S1 with intact overlying skin.|HPO|N|
C4025306|Anterior tongue-like protrusions of the lower thoracic vertebral bodies.|HPO|N|
C4025308|The closed form of spina bifida with incomplete closure of the vertebra L5 with intact overlying skin.|HPO|N|
C4025309|Three ossification sites are present in typical vertebral bodies (C3-L5)|HPO|N|
C4025313|Excessive, increased hair growth located in the sacral region.|HPO|N|
C4025316|Reduced or lacking hair growth in the temporal region (i.e., around the temples on the side of the skull).|HPO|N|
C4025317|Bilateral absence (atresia) of the posterior nasal aperture (choana).|HPO|N|
C4025319|Stagnation of head growth seen as flattening of the head circumference curve.|HPO|N|
C4025320|Asymmetry of the bones of the skull and the face.|HPO|N|
C4025321|Hyperostosis (bony overgrowth) of the mandible.|HPO|N|
C4025322|An abnormal increase (delay) in the conduction time of the brainstem auditory-evoked response.|HPO|N|
C4025323|A rudimentary tag of ear tissue often containing a core of cartilage and located just in back of the auricle (outer part of the ear).|HPO|N|
C4025324|An abnormality of the cheek- one of two bilateral soft tissue facial structures in the region of the face inferior to the eyes and between the nose and the ear. "Buccal" means relating to the cheek. The cheek is part of the midface|HPO|N|
C4025326|An abnormality of the pylorus.|HPO|N|
C4025327|Congenital atresia of the pylorus.|HPO|N|
C4025328|An abnormality of alkaline phosphatase level.|HPO|N|
C4025329|Abnormality of the anal canal.|HPO|N|
C4025330|Abnormality of glycosaminoglycan metabolism.|HPO|N|
C4025331|Abnormally reduced concentration of a purine compound. Purine compounds are aromatic heterocyclic compounds containing a purine moiety, which is formed a pyrimidine-ring ring fused to an imidazole ring.|HPO|N|
C4025332|Abnormally elevated concentration of a purine compound. Purine compounds are aromatic heterocyclic compounds containing a purine moiety, which is formed a pyrimidine-ring ring fused to an imidazole ring.|HPO|N|
C4025334|An abnormality of glycolysis.|HPO|N|
C4025335|Any deviation from the normal concentration of tryptophan in the blood circulation.|HPO|N|
C4025336|Any deviation from the normal concentration of a nitrogen compound in the blood circulation.|HPO|N|
C4025339|An abnormal concentration of leptin in the blood.|HPO|N|
C4025347|Reduced function of the muscles required to generate subatmospheric pressure in the thoracic cavity during breathing|HPO|N|
C4025350|An abnormality of glycosphingolipid metabolism.|HPO|N|
C4025351|Abnormality of galactoside metabolism. A galactoside is a glycoside (a sugar moiety bound to some other moiety) containing galactose.|HPO|N|
C4025352|Any deviation from the normal concentration of a aromatic amino acid in the blood circulation.|HPO|N|
C4025355|An abnormality of the anterior segment of the eyeball (which comprises the structures in front of the vitreous humor|HPO|N|
C4025356|Any structural anomaly of the vitreous body.|HPO|N|
C4025357|An abnormal increase or decrease of weight or an abnormal distribution of mass in the body.|HPO|N|
C4025358|A reticulocyte abnormality.|HPO|N|
C4025359|Developmental defect characterized by an anomalous anatomic location of the heart.|HPO|N|
C4025362|An abnormality of the gastric mucous membrane.|HPO|N|
C4025363|A partial dislocation affecting some or all of the metacarpophalangeal joints.|HPO|N|
C4025375|Abnormal formation of new bone on the surface of a bone of the hand.|HPO|N|
C4025380|A partial dislocation of some or all of the small joints of the hand.|HPO|N|
C4025387|Underdevelopment of the trapezoid.|HPO|N|
C4025389|Underdevelopment of the trapezium.|HPO|N|
C4025390|An anomaly of trapezium.|HPO|N|
C4025394|Underdevelopment of the scaphoid.|HPO|N|
C4025401|Carpal bones with irregular or fragmented margins.|HPO|N|
C4025403|The bone-in-bone sign is a radiographic finding produced by increased sclerosis (abnormally dense bone) occurring intermittently with zones of relatively normal bone density. This term should be used to describe such a finding in the carpal bones.|HPO|N|
C4025404|A partial dislocation of the proximal interphalangeal joint of the little finger.|HPO|N|
C4025405|Abnormality of the epiphysis of the middle phalanx of the fifth finger. This epiphysis is located on the proximal end of the phalanx.|HPO|N|
C4025407|Curved phalanges of the 5th (little) finger.|HPO|N|
C4025408|Abnormality of the phalanges of the 5th (little) finger.|HPO|N|
C4025409|Osteolytic defects of the phalanges of the 4th (ring) finger.|HPO|N|
C4025411|This term groups together three conditions that presumably represent different degrees of severity of a midline defect of the nose or nasal tip.|HPO|N|
C4025412|An abnormal groove on the midline of the nose that may extend to the nasal tip.|HPO|N|
C4025414|Wrist is bent inward toward the thumb because of a congenital defect associated with shortening or absence of the radius.|HPO|N|
C4025419|A sloped configuration of the metaphysis (shaft) of the ulna.|HPO|N|
C4025424|Any structural abnormality of the portion of the ulna between the epiphysis and the diaphysis.|HPO|N|
C4025430|Any structural abnormality of the olecranon, a bony eminence of the proximal ulna.|HPO|N|
C4025434|An anomaly of the radial diaphysis.|HPO|N|
C4025441|The presence of a splayed (i.e.,flared) metaphyseal segment of the radius.|HPO|N|
C4025446|A premature fusion of the epiphyseal plates of the radius. Epiphyseal plates are located at the distal and proximal ends of the long bones, in this case of the radius and premature fusion will have an effect on the growh of the radial bone, inhibiting or at least disturbing the normal growth and development of the bone.|HPO|N|
C4025457|The distal epiphysis (rounded portion of bone at the far end of the radius distal to the growth plate) has an abnormal cone-shaped appearance.|HPO|N|
C4025460|Increased width of the ulna.|HPO|N|
C4025481|A bending or abnormal curvature affecting either the radius, the ulna, or both.|HPO|N|
C4025482|A descriptive term for a forearm bone that appears to have an additional bone within it on radiography.|HPO|N|
C4025487|A delay in the process of formation and maturation of the epiphysis of one or more long bones that are part of the elbow.|HPO|N|
C4025501|An abnormal irregularity of the cortical surface of the diaphysis (shaft) of the humerus.|HPO|N|
C4025502|An anomaly of the humeral diaphysis.|HPO|N|
C4025526|Ossification of the humeral epiphysis at an earlier age than normal.|HPO|N|
C4025536|Destruction of an area of humerus bone due to a disease process, such as cancer.|HPO|N|
C4025538|Presence of more than one exostosis originating in one or noth humerus bones. An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage, and arises from a bone that develops from cartilage.|HPO|N|
C4025545|Clefting affecting the humerus.|HPO|N|
C4025547|An elevation in bone density in one or more diaphyses of the arms. Sclerosis is normally detected on a radiograph as an area of increased opacity.|HPO|N|
C4025560|A delay in the process of formation and maturation of the epiphysis of one or more long bones of the upper limbs.|HPO|N|
C4025561|Formation of calcified tissue in the soft tissues surrounding the shoulder.|HPO|N|
C4025568|Multiple small zones of sarcomeric disorganization and lack of oxidative activity (known as minicores) in type 1 and type 2 muscle fibers.|HPO|N|
C4025569|A body habitus that is tall, slim and underweight, with long legs and long arms (i.e., arm span exceeds height by 5 cm or more).|HPO|N|
C4025570|Congenital underdevelopment of lymph vessels.|HPO|N|
C4025571|The presence of abnormal muscle fiber size such that type 1 fibers are smaller than type 2 fibers.|HPO|N|
C4025572|Recurrent episodes of muscle flaccidity, a type of paralysis in which a muscle becomes soft and yields to passive stretching.|HPO|N|
C4025573|An abnormal, increased fatiguability of the musculature.|HPO|N|
C4025574|A type of genetic anticipation observed predominantly upon transmission from affected males.|HPO|N|
C4025575|Myotonia that occurs after a period of rest and decreases with continuing exercise.|HPO|N|
C4025576|Spontaneous, repetitive electrical activity demonstrated by electromyography (EMG).|HPO|N|
C4025577|Absence of the epiphysis located at the proximal end of the distal phalanx of the 5th finger.|HPO|N|
C4025578|Lack of strength of the proximal musculature occurring late in the clinical course.|HPO|N|
C4025581|Muscular atrophy affecting the muscles of the pelvis.|HPO|N|
C4025582|An abnormal reduction in dihydropyrimidine dehydrogenase (NADP+) level.|HPO|N|
C4025583|Metachromasia (also known as metachromacy) is a characteristic color change which certain aniline dyes exhibit when bound to particular substances or when concentrated in solution. For example, the basic dye toluidine blue becomes distinctly pink when bound to cartilage matrix. In the sense used here, the metachromasia refers to a change in color not observed with normal tissues, anomalous staining with the cationic dyes toluidine blue O and Alcian blue resulting from excessive amounts of the polyanionic glycosaminoglycans.|HPO|N|
C4025584|Abnormality of glycoside metabolism.|HPO|N|
C4025585|An increased concentration of lactic acid in the urine.|HPO|N|
C4025586|A deficiency of the electron transfer flavoprotein-ubiquinone oxidoreductase.|HPO|N|
C4025587|Activity or concentration of 4-hydroxyphenylpyruvate dioxygenase in the blood circulation below the lower limit of normal.|HPO|N|
C4025588|Onset of signs or symptoms of disease between the age of 5 and 15 years.|HPO|N|
C4025589|If positive, the ferric chloride test indicates an increased concentration of phenols in the urine or blood.|HPO|N|
C4025590|The presence of foam cells that contain lamellar inclusion bodies.|HPO|N|
C4025591|Lack of urothione (the urinary metabolite of molybdenum cofactor) in the urine.|HPO|N|
C4025593|An abnormally increased sodium concentration in the cytosol.|HPO|N|
C4025594|A positive response to the regitine blocking test consisting of a substantial reduction in blood pressure following administration of regitine, indicative of the presence of increased levels of epinephrine and norepinephrine in the circulation, which is seen in pheochromocytoma-associated hypertension.|HPO|N|
C4025595|Rhabdomyolysis induced by a viral infection.|HPO|N|
C4025596|Any abnormality of the soft tissues, including both connective tissue (tendons, ligaments, fascia, fibrous tissues, and fat).|HPO|N|
C4025597|An abnormally increased number of mitochondria in the cytoplasma adjacent to the sarcolemma (muscle cell membrane), whereby the mitochondria also possess an abnormal morphology.|HPO|N|
C4025598|Excretion of glycosaminoglycan in the urine. Glycosaminoglycans are long unbranched polysaccharides consisting of a repeating disaccharide unit.|HPO|N|
C4025599|An increased level of iduronate-2-sulfatase activity in the blood.|HPO|N|
C4025600|An abnormal reduction in xanthine dehydrogenase level.|HPO|N|
C4025601|Decreased level of acetaldehyde dehydrogenase (ALDH). ALDH and alcohol dehydrogenase (ADH) are the primary enzymes involved in alcohol metabolism.|HPO|N|
C4025602|Level of ornithine in the urine above the upper limit of normal.|HPO|N|
C4025603|An increased concentration of glutaric acid in the blood.|HPO|N|
C4025604|An increase in the reabsorption of calcium by the renal tubulus that is not associated with increased parathormone levels.|HPO|N|
C4025605|A reduction of the ratio of renal calcium clearance to creatinine clearance to below 0.01.|HPO|N|
C4025606|An elevated concentration of a gonadotropin hormone (stimulating hormone or luteinizing hormone) in the urine, consistent with the diagnosis of primary hypogonadism.|HPO|N|
C4025607|An abnormally increased diphosphate(4-) concentration in the urine. Diphosphate(4-), as ester with two phosphate groups, is also known as pyrophosphate.|HPO|N|
C4025609|Electromyographic (EMG) findings characteristic of axonal neuropathy, with normal or slightly decreased nerve conduction velocities, normal or slightly prolonged distal latencies, but significantly reduced motor potentials and sensory amplitudes. There may be spontaneous activity upon needle EMG studies, such as increased insertional activity, positive sharp waves, and fibrillation potentials.|HPO|N|
C4025610|Defective structure and function of myelin sheaths. Dysmyelination is distinguished from demyleination where there is destruction or damage of previously normal myelination.|HPO|N|
C4025611|Undetectable serum immunoglobulin A level at a value < 5 mg/dL (0.05 g/L).|HPO|N|
C4025612|A heterogeneous increase in IgM immunoglobulins characterized by a diffuse band on serum electrophoresis.|HPO|N|
C4025613|An increased rate of premature chromosome condensation.|HPO|N|
C4025614|Evidence of chronic denervation on electromyography.|HPO|N|
C4025615|A reduction in the size of nerve terminals.|HPO|N|
C4025616|Reduced amount of myelin in the central nervous system resulting from defective myelinogenesis.|HPO|N|
C4025617|An anomaly of the atlantoaxial joint, i.e., of the joint between the first (atlas) and second (axis) cervical vertebrae.|HPO|N|
C4025618|Any abnormality of the neuromuscular junction, which is the synapse between the motor end plate of a motor neuron and the skeletal muscle fibers.|HPO|N|
C4025619|Atrophic changes of axons of the peripheral nervous system.|HPO|N|
C4025620|An abnormality of the femoral head.|HPO|N|
C4025621|An abnormality of the femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft).|HPO|N|
C4025623|An increased concentration of cystine within cells. This finding can be demonstrated on leukocytes, but is not specific to blood cells.|HPO|N|
C4025624|An increase in the number of chromosome sets per cell in bone marrow cells.|HPO|N|
C4025625|Normal peripheral blood lymphocytes, when stimulated by phytohemagglutinin (PHA) are cytotoxic for homologous and heterologous cells but not for autologous cells in monolayer culture. The cytotoxic effect is thought to be indicative of the immunological competence of the lymphocytes.|HPO|N|
C4025628|An abnormality of the process of endochondral ossification, which is a type of replacement ossification in which bone tissue replaces cartilage.|HPO|N|
C4025629|An abnormal increase in catecholamine concentration in the blood.|HPO|N|
C4025630|Any anomaly in the composite material or the layered arrangement of the bony skeleton.|HPO|N|
C4025635|A increased concentration of arginine in the urine.|HPO|N|
C4025636|An abnormal decrease in orotidine 5'-phosphate decarboxylase level.|HPO|N|
C4025637|Abnormally elevated level of the enzyme phosphoribosyl pyrophosphatesynthetase, which catalyzes the synthesis of PP-ribose-P from ATP and ribose-5-phosphate.|HPO|N|
C4025641|A decreased rate of pyruvate carboxylase activity.|HPO|N|
C4025642|The intracellular accumulation of autofluorescent storage material.|HPO|N|
C4025643|An increased level of a dibasic amino acid in the urine. Dibasic amino acids are usually refered to simply as basic aminoacids because they contain basic side chains at neutral pH. These are arginine (Arg), lysine (Lys), and histidine (His).|HPO|N|
C4025647|An abnormality of the spinocerebellar tracts, a set of axonal fibers originating in the spinal cord and terminating in the ipsilateral cerebellum. The spinocerebellar tract convey information to the cerebellum about limb and joint position (proprioception). They comprise the ventral spinocerebellar tract, the anterior spinocerebellar tract, and the posterior spinocerebellar tract.|HPO|N|
C4025648|An abnormality of the myelination of motor and sensory peripheral nerves. These are axons for motor nerves and dendrites for sensory nerves in the strict anatomic sense.|HPO|N|
C4025649|Reduced activity of coagulation factor VIII. Factor VIII (fVIII) is a cofactor in the intrinsic clotting cascade that is activated to fVIIIa in the presence of minute quantities of thrombin. fVIIIa acts as a receptor, for factors IXa and X.|HPO|N|
C4025650|Any deviation from the normal concentration of a lipid in the blood circulation.|HPO|N|
C4025651|Overproduction of the hormone of cortisol by the adrenal cortex, resulting in a characteristic combination of clinical symptoms termed Cushing syndrome, with truncal obesity, a round, full face, striae atrophicae and acne, muscle weakness, and other features.|HPO|N|
C4025652|Concentration of a hormone in the blood circulation outside of normal limits.|HPO|N|
C4025653|The presence of an abnormal decrease or increase of one or more amino acids in the blood circulation.|HPO|N|
C4025655|An abnormality of the composition of urine or the levels of its components.|HPO|N|
C4025656|Any deviation from the normal concentration of cholesterol in the blood circulation.|HPO|N|
C4025657|Trophic changes occurring in a limb.|HPO|N|
C4025659|An abnormality of the shoulder, which is defined as the structures surrounding the shoulder joint where the humerus attaches to the scapula.|HPO|N|
C4025660|An anomaly of the joint that connects the foot with the leg.|HPO|N|
C4025663|Abnormality of the tibia (shinbone).|HPO|N|
C4025664|An anomaly of the calf bone (fibula), one of the two bones of the calf.|HPO|N|
C4025665|Absence or underdevelopment of tissue in the central nervous system.|HPO|N|
C4025666|An abnormality of the lower arm.|HPO|N|
C4025667|Congenital absence of a part of the vermis of cerebellum.|HPO|N|
C4025670|An abnormality of chromosome segregation.|HPO|N|
C4025671|Recurrent bouts of sudden, severe apnea that may be life-threatening.|HPO|N|
C4025672|Impaired production of memory cells, the B cells that persist for years or an entire lifetime and which confer rapid and enhanced response to secondary challenge.|HPO|N|
C4025673|Increased susceptibility to infections with Burkholderia cepacia, as manifested by recurrent episodes of infection with this agent.|HPO|N|
C4025675|An abnormality of the radius.|HPO|N|
C4025676|An abnormality of the knee joint or surrounding structures.|HPO|N|
C4025678|A structural anomaly of the trachea.|HPO|N|
C4025679|Punctate (speckled, dot-like) deposition of calcium of calcium salts in the articular cartilage (cartilage located in joints).|HPO|N|
C4025680|Any morphological abnormality of cartilage.|HPO|N|
C4025681|Increased susceptibility to enteroviral infections, as manifested by recurrent episodes of enteroviral infection.|HPO|N|
C4025682|Increased susceptibility to Serratia marcescens infections, as manifested by recurrent episodes of Serratia marcescens infection.|HPO|N|
C4025683|Underdevelopment of the lymph nodes.|HPO|N|
C4025684|An increased susceptibility to abscess formation, as manifested by a medical history of recurrent abscesses.|HPO|N|
C4025686|An abnormality of the process of ossification of the skull.|HPO|N|
C4025687|Any abnormality of the foramen magnum.|HPO|N|
C4025688|An abnormality of the base of the skull, which forms the floor of the cranial cavity and separates the brain from other facial structures. The skull base is made up of five bones|HPO|N|
C4025689|An abnormality of the frontal sinus, one of the mucosa-lined, normally air-filled paranasal sinuses of the bones of the skull. The frontal sinus is located within the frontal bone.|HPO|N|
C4025691|Abnormality of the morphology (structure) of the calvaria (skullcap), that is, of that part of the skull that is made up of the superior portions of the frontal bone, occipital bone, and parietal bones and covers the cranial cavity that contains the brain.|HPO|N|
C4025693|A type of hypertension associated with pheochromocytoma.|HPO|N|
C4025695|The aortic arch crosses the right mainstem bronchus and not the left mainstem bronchus, but does not result in the creation of a vascular ring. The first branch is the left brachiocephalic artery which divides into the left carotid artery and left subclavian artery, the second branch is the right carotid artery, the third branch is the right subclavian artery.|HPO|N|
C4025698|An abnormality of the peritoneum.|HPO|N|
C4025699|An abnormality of the stomach.|HPO|N|
C4025700|Developmental dysplasia of the hair.|HPO|N|
C4025701|Any structural abnormality of the cerebral cortex.|HPO|N|
C4025702|Impaired ability to repeat non-word sounds. Nonword repetition (NWR) is a measure of short-term phonological memory.|HPO|N|
C4025703|Deposition of calcium salts within small blood vessels of the brain.|HPO|N|
C4025704|Abnormality of the corticospinal tract, which is the chief element of the pyramidal system (the principle motor tract) and is the only direct connection between the cerebrum and the spinal cord.|HPO|N|
C4025705|The presence, on T2-weighted magnetic resonance imaging, of markedly low signal intensity of the globus pallidus that surrounds a central region of high signal intensity in the anteromedial globus pallidus, producing an eye-of-the-tiger appearance. The sign is thought to represent iron accumulation in the globus pallidus.|HPO|N|
C4025706|An abnormality of the globus pallidus.|HPO|N|
C4025707|Any structural anomaly that affects the motor neuron.|HPO|N|
C4025711|Any structural abnormality of the caudate nucleus.|HPO|N|
C4025712|An anomaly of the vermis of cerebellum.|HPO|N|
C4025713|A neurological disorder marked by a sudden recurrent uncontrollable compulsion to sleep|HPO|N|
C4025714|An abnormality of the autonomic nervous system.|HPO|N|
C4025715|Any abnormality of the large intestine.|HPO|N|
C4025716|An abnormality of the duodenum, i.e., the first section of the small intestine.|HPO|N|
C4025717|A structural abnormality of the small intestine.|HPO|N|
C4025718|Loss of scalp hair at an earlier than normal age.|HPO|N|
C4025719|Defective development of the vermis of cerebellum.|HPO|N|
C4025720|Pseudobulbar affect (PBA) is characterized by uncontrolled crying or laughing which may be disproportionate or inappropriate to the social context. Thus, there is a disparity between the patient's emotional expression and his or her emotional experience.|HPO|N|
C4025722|A structural abnormality of the spinal cord (myelon).|HPO|N|
C4025723|Any structural anomaly that affects the upper motor neuron.|HPO|N|
C4025724|Any structural abnormality of the cerebral ventricles.|HPO|N|
C4025726|An abnormality of the pulmonary pleura, the thin, transparent membrane which covers the lungs and lines the inside of the chest walls.|HPO|N|
C4025727|An abnormality of the upper respiratory tract.|HPO|N|
C4025728|Lipofuscin, a generic term applied to autofluorescent lipopigment, is a mixture of protein and lipid that accumulates in most aging cells, particularly those involved in high lipid turnover (e.g., the adrenal medulla) or phagocytosis of other cell types (e g., the retinal pigment epithelium or RPE; macrophage). This term pertains if there is an increase in the neuronal accumulation of lipofuscin (also known as autofluorescent lipoprotein) more than expected for the age of the patient.|HPO|N|
C4025730|Atrophy of the cortex of the kidney.|HPO|N|
C4025731|Venous or arterial thrombosis (formation of blood clots) of spontaneous nature and which cannot be fully explained by acquired risk (e.g. atherosclerosis).|HPO|N|
C4025732|An abnormality that involves the tubules and interstitial tissue of the kidney.|HPO|N|
C4025733|An abnormality of the mesangium, i.e., of the central part of the renal glomerulus between capillaries.|HPO|N|
C4025734|Any anomaly of the scalp, the skin an subcutaneous tissue of the head on which head hair grows.|HPO|N|
C4025740|The spontaneous detachment of a foot from the body due to long standing pathology.|HPO|N|
C4025741|Bending or curvature of a fifth toe in the tibial direction (i.e., towards the big toe).|HPO|N|
C4025745|Abnormalities of the metatarsal bones (i.e. of five tubular bones located between the tarsal bones of the hind- and mid-foot and the phalanges of the toes).|HPO|N|
C4025746|Congenital occlusion of a tube in the genital tract.|HPO|N|
C4025747|An abnormality of the morphology of the toes, such that the tips of the toes are prominent and bulbous.|HPO|N|
C4025749|An abnormality of the spleen.|HPO|N|
C4025750|A structural anomaly of the nasopharynx.|HPO|N|
C4025751|An abnormality of the pancreas.|HPO|N|
C4025752|An abnormality of a cardiac ventricle.|HPO|N|
C4025753|Any structural anomaly of the tricuspid valve.|HPO|N|
C4025754|An abnormality of the pericardium, i.e., of the fluid filled sac that surrounds the heart and the proximal ends of the aorta, vena cava, and the pulmonary artery.|HPO|N|
C4025756|An abnormality of the aorta.|HPO|N|
C4025758|A structural anomaly of the muscle layer of the heart wall.|HPO|N|
C4025759|Any structural anomaly of the mitral valve.|HPO|N|
C4025760|Hypercortisolemia associated with a primary defect of the adrenal gland leading to overproduction of cortisol.|HPO|N|
C4025761|An abnormality of the integument, which consists of the skin and the superficial fascia.|HPO|N|
C4025763|A morphological anomaly of the rib cage.|HPO|N|
C4025769|Absence or underdevelopment of the muscles of the upper arm.|HPO|N|
C4025770|Absence or underdevelopment of the musculature of the upper limbs.|HPO|N|
C4025772|Absence or underdevelopment of the muscles of the shoulder.|HPO|N|
C4025773|Absence or underdevelopment of the musculature.|HPO|N|
C4025774|Syndactyly with fusion of toes one to three.|HPO|N|
C4025785|An anomaly of the musculature of foot.|HPO|N|
C4025787|A localized defect in the bone of the skull resulting from abnormal embryological development. The defect is covered by normal skin. In some cases, skull x-rays have shown underlying lytic bone lesions which have closed before the age of one year.|HPO|N|
C4025788|Head movements associated with nystagmus, that may represent an attempt to compensate for the involuntary eye movements and to improve vision.|HPO|N|
C4025789|A pattern of thinking and perceiving characterized by a loss of contact with reality, leading to significant changes in thoughts, perceptions, and behaviors.|HPO|N|
C4025790|Impairment of certain skills such as reading or writing, coordination, self-control, or attention that interfere with the ability to learn. The impairment is not related to a global deficiency of intelligence.|HPO|N|
C4025791|Generalised myoclonic seizure provoked by flashing or flickering light.|HPO|N|
C4025792|EEG shows spikes (<80 ms) and waves, which are recorded over the entire scalp and do not have a specific frequency.|HPO|N|
C4025795|Decreased length of the tubular bones of the hand, that is, the phalanges and metacarpals.|HPO|N|
C4025796|An abnormal structure of the tip (end) of a finger.|HPO|N|
C4025797|An abnormality of the fetus or the birth of the fetus, excluding structural abnormalities.|HPO|N|
C4025798|An abnormality of the placenta (the organ that connects the developing fetus to the uterine wall) or of the umbilical cord (the cord that connects the fetus to the placenta).|HPO|N|
C4025799|An abnormal hand position characterized by hyperextension of the fourth and fifth fingers at the metacarpophalangeal joints and flexion of the interphalangeal joints of the same fingers such that they are curled towards the palm.|HPO|N|
C4025802|Any abnormality of the size or morphology of the cornea.|HPO|N|
C4025804|Any structural abnormality of the fundus of the eye.|HPO|N|
C4025805|Jaundice that is sometimes present, sometimes not.|HPO|N|
C4025810|An abnormality of the dermatoglyphs, i.e., an abnormality of the patterns of ridges of the skin of palm of hand.|HPO|N|
C4025811|A type of pallor that is secondary to the presence of anemia.|HPO|N|
C4025814|An abnormality of one or more metaphysis, i.e., of the somewhat wider portion of a long bone that is adjacent to the epiphyseal growth plate and grows during childhood.|HPO|N|
C4025818|The bones of the skeleton undergo a series of characteristic changes in size, shape, and calcification from fetal life until puberty. An abnormality of this process can include delayed or accelerated skeletal maturation, or deviation of some, but not all bones from the expected patterns of maturation.|HPO|N|
C4025819|Abnormality of the pituitary gland (also known as hypophysis), which is an endocrine gland that protrudes from the bottom of the hypothalamus at the base of the brain. The pituitary gland secretes the hormones ACTH, TSH, PRL, GH, endorphins, FSH, LH, oxytocin, and antidiuretic hormone. The secretion of hormones from the anterior pituitary is under the strict control of hypothalamic hormones, and the posterior pituitary is essentially an extension of the hypothalamus, so that hypothalamus and pituitary gland may be regarded as a functional unit.|HPO|N|
C4025821|A condition of reduced function of the anterior pituitary gland characterized by decreased secretion of one or more of the pituitary hormones growth hormone, thyroid-stimulating hormone, adrenocorticotropic hormone, prolactin, luteinizing hormone, and follicle-stimulating hormone.|HPO|N|
C4025822|An abnormality of the parathyroid gland.|HPO|N|
C4025823|An abnormality of the endocrine system.|HPO|N|
C4025824|An anomaly of the adnexa, uterus, and vagina (in female) or seminal tract and prostate (in male).|HPO|N|
C4025826|An abnormality of the urethra, i.e., of the tube which connects the urinary bladder to the outside of the body.|HPO|N|
C4025827|The presence of immunoglobulin A deposits in the glomerulus.|HPO|N|
C4025828|Any abnormality of the scapula, also known as the shoulder blade.|HPO|N|
C4025829|An abnormality of the breast.|HPO|N|
C4025830|Progressive deterioration of peripheral axons.|HPO|N|
C4025831|A structural abnormality of the peripheral nervous system, which is composed of the nerves that lead to or branch off from the central nervous system. This includes the cranial nerves (olfactory and optic nerves are technically part of the central nervous system).|HPO|N|
C4025833|An abnormality of the Incisor tooth.|HPO|N|
C4025835|An abnormality of the nasolacrimal drainage system, which serves as a conduit for tear flow from the external eye to the nasal cavity.|HPO|N|
C4025836|Any structural abnormality of the choroid.|HPO|N|
C4025837|An abnormality of the region situated around the orbit of the eye.|HPO|N|
C4025838|An anomaly of the pharynx, i.e., of the tubular structure extending from the base of the skull superiorly to the esophageal inlet inferiorly.|HPO|N|
C4025839|An anomaly in the placement or shape of the hairline (trichion) on the forehead, that is, the border between skin on the forehead that has head hair and that does not.|HPO|N|
C4025840|An abnormality of the sclera.|HPO|N|
C4025842|An abnormality of the uvea, the vascular layer of the eyeball.|HPO|N|
C4025843|An abnormality in the process of focusing of light by the eye in order to produce a sharp image on the retina.|HPO|N|
C4025844|An abnormality of the choroid and retina.|HPO|N|
C4025845|An abnormality of the iris, which is the pigmented muscular tissue between the cornea and the lens, that is perforated by an opening called the pupil.|HPO|N|
C4025846|Abnormality of eyesight (visual perception).|HPO|N|
C4025847|An abnormality of the conjunctiva.|HPO|N|
C4025849|An abnormality of the fovea centralis, the central area of the macula that mediates central, high resolution vision and contains the largest concentration of cone cells in the retina.|HPO|N|
C4025850|An increased amount of subcutaneous fat tissue around the neck.|HPO|N|
C4025852|An abnormality of the nasal tip.|HPO|N|
C4025853|Telangiectasia of the nasal mucosa.|HPO|N|
C4025855|Abnormality of the choanae (the posterior nasal apertures).|HPO|N|
C4025857|With incomplete partition II, the cochlea consists of 1.5 turns; the apical and middle cochlea turns are undifferentiated and form a cystic apex. The vestibule is normal while the vestibular aqueduct is always enlarged. Developmental arrest occurs at the seventh week of gestation.|HPO|N|
C4025858|An abnormality of the cochlea.|HPO|N|
C4025860|An abnormality of the sensory perception of sound.|HPO|N|
C4025862|An abnormality of the Maxilla (upper jaw bone).|HPO|N|
C4025864|An abnormality of the chin, i.e., of the inferior portion of the face lying inferior to the lower lip and including the central prominence of the lower jaw.|HPO|N|
C4025865|An anomaly of a muscle that is innervated by the facial nerve (the seventh cranial nerve).|HPO|N|
C4025867|An anomaly of the forehead.|HPO|N|
C4025868|An increased amount of subcutaneous fat tissue in the face.|HPO|N|
C4025870|Any abnormality of the mandible, the bone of the lower jaw.|HPO|N|
C4025871|An abnormality of the face.|HPO|N|
C4025872|An abnormality of the mastoid process, which is the conical prominence projecting from the undersurface of the mastoid portion of the temporal bone.|HPO|N|
C4025873|Abnormality of the paranasal (cranial) sinuses, which are air-filled spaces that are located within the bones of the skull and face and communicate with the nasal cavity. They comprise the maxillary sinuses, the frontal sinuses, the ethmoid sinuses, and the sphenoid sinuses.|HPO|N|
C4025874|Any abnormality of the size of the skull.|HPO|N|
C4025875|An abnormality of the anterior fontanelle, i.e., the cranial fontanelle that is located at the intersection of the coronal and sagittal sutures.|HPO|N|
C4025876|Any abnormality of the fontanelles (the regions covered by a thick membrane that normally ossify in the first two years of life) or the cranial sutures (the fibrous joints in which the articulating bones or cartilages of the skull are connected by sutural ligaments).|HPO|N|
C4025877|Presence of telangiectases in the oral cavity.|HPO|N|
C4025878|Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the tongue.|HPO|N|
C4025880|Any abnormality of the parotid glands, which are the salivary glands that are located in the subcutaneous tissues of the face overlying the mandibular ramus and anterior and inferior to the external ear.|HPO|N|
C4025881|An abnormality of the lingual frenulum, that is of the small fold of mucous membrane that attaches the tongue to the floor of the mouth, or the presence of accessory frenula in the oral cavity.|HPO|N|
C4025883|An abnormality of the lower lip.|HPO|N|
C4025884|An abnormality of the upper lip.|HPO|N|
C4025885|Abnormality of the uvula, the conic projection from the posterior edge of the middle of the soft palate.|HPO|N|
C4025886|A severe form of periodontitis.|HPO|N|
C4025887|Abnormality of the oral cavity, i.e., the opening or hollow part of the mouth.|HPO|N|
C4025888|An abnormality of the ovulation cycle.|HPO|N|
C4025889|A structural anomaly of the glomerulus.|HPO|N|
C4025890|Congenital anomaly characterized by closure or failure to develop an opening in the urethra in females.|HPO|N|
C4025891|Ambiguous genitalia in an individual with XX genetic gender.|HPO|N|
C4025892|An anomaly of the labia, the externally visible portions of the vulva.|HPO|N|
C4025893|Any structural abnormality of the clitoris.|HPO|N|
C4025894|Congenital anomaly characterized by closure or failure to develop an opening in the urethra in males.|HPO|N|
C4025895|Any structural abnormality of the scrotum, i.e., the sac that contains the testes, epididymis, and the lower part of the spermatic cord.|HPO|N|
C4025896|Abnormality of the male external sex organ.|HPO|N|
C4025897|Any structural abnormality of male external genitalia.|HPO|N|
C4025900|An abnormality of the female internal genitalia.|HPO|N|
C4025901|Deviation from the norm of height with respect to that which is expected according to age and gender norms.|HPO|N|
C4032686|An indication that no complication occurred.|NCI|N|
C4034374|The modulus of elasticity of the liver, representing the resistance of the liver to deformation. Liver stiffness has been shown to be a surrogate marker of advanced fibrosis and cirrhosis. Liver stiffness, measured by transient elastography, is an independent predictor of liver failure, hepatocellular carcinoma, and mortality in cirrhotic patients coinfected with the human immunodeficiency virus or acquired immune deficiency syndrome, and hepatitis C virus.|NCI|N|
C4035149|A subjective response indicating that something is always true.|NCI|N|
C4035152|A subjective response indicating that an individual is able to do something, but with a lot of trouble.|NCI|N|
C4035162|A response indicating that an individual has stopped trying, or knew they could not do this activity because of their shortness of breath.|NCI|N|
C4035176|An indication that a patient is missing from an in-patient facility.|NCI|N|
C4035618|Conditions did not meet a quantitative measure necessary for testing or reporting.|NCI|N|
C4035634|Combat Exposure Scale CES0103 Original Result - 1-2 times.|NCI|N|
C4035866|An indication that a patient remains in an in-patient hospital.|NCI|N|
C4035872|An indication that a patient left an in-patient facility while alive.|NCI|N|
C4035875|A visit to an ambulatory care facility.|NCI|N|
C4035876|An indication that vital sign data came from an individual or record within a healthcare delivery setting.|NCI|N|
C4036142|A response indicating that something is a lot better.|NCI|N|
C4036143|A response indicating that something is a lot worse.|NCI|N|
C4036144|A response indicating that an individual has not done an activity for some reason not listed.|NCI|N|
C4036199|A response indicating a moderate level of confidence.|NCI|N|
C4036309|A subjective response indicating that something is usually true.|NCI|N|
C4036310|A subjective response indicating that something is sometime true.|NCI|N|
C4036313|A subjective response indicating that an individual is able to do something, but with some trouble.|NCI|N|
C4036314|A subjective response indicating that an individual is able to do something, but with a little trouble.|NCI|N|
C4036315|A subjective response indicating that an individual is able to do something without trouble.|NCI|N|
C4038592|Loss of posterior buccal vestibule.|SNOMEDCT_US|N|
C4038606|A tongue position where the tongue is pulled back in the mouth altering the shape of the sublingual space.|SNOMEDCT_US|N|
C4038633|A measure of the slope of the occlusal plane on the right to the Frankfort horizontal in degrees, related to tooth eruption.|SNOMEDCT_US|N|
C4038670|A horizontal streak found on the inner surface of the cheek at the level of the biting plane. It usually extends from the commissure to the posterior teeth and can extend to the inner lip mucosa and corners of the mouth. It is a common finding and most likely associated with pressure, frictional irritation, or sucking trauma from the facial surfaces of the teeth.|SNOMEDCT_US|N|
C4038681|Hyperplastic epithelial cells with nodular distribution.|SNOMEDCT_US|N|
C4038730|Disorder characterized by persistent airflow limitation with several features usually associated with asthma and several features usually associated with COPD; identified by the features that it shares with both asthma and COPD.|SNOMEDCT_US|N|
C4038738|Abnormally flat (obtuse) angle of the mandible. The angle of the mandibular, located at the junction between the body and the ramus of the mandible, is normally close to being a right angle. This terms describes an abnormal increase of this angle such that the mandible appears flatter than normal.|HPO|N|
C4038795|A flat mandibular plane angle correlates with short anterior facial vertical dimensions (height) and anterior deep bite malocclusion.|SNOMEDCT_US|N|
C4038872|A benign vasoproliferative lesion in which lymph node sinuses become converted to anastomosing endothelial-lined channels.|SNOMEDCT_US|N|
C4038886|Chemical, biochemical and/or electrochemical actions causing the degradation of the hard tissue of the tooth.|SNOMEDCT_US|N|
C4038895|The upper canine is positioned distally to the embrasure between the lower canine and first premolar, the canine occlusion is called Class III.|SNOMEDCT_US|N|
C4038931|Confirmatory presence of bacterial microorganisms.|NCI|N|
C4038952|A carcinoma that arises from the thymus and has spread from its original site of growth to another anatomic site.|NCI|N|
C4038969|A measure of the slope of the occlusal plane on the left to the Frankfort horizontal in degrees, related to tooth eruption.|SNOMEDCT_US|N|
C4038980|The surface is not intact with visible breakdown (hole) and extensive loss of mineral, extensive localized demineralization where there is observable localized breakdown or distinct cavity (hole).|SNOMEDCT_US|N|
C4038991|Carious lesion of interproximal origin arising on any approximal smooth surface of the tooth contacting an adjacent tooth.|SNOMEDCT_US|N|
C4039020|Residual alveolar bone height of 11-15mm measured at the least vertical height of the mandible.|SNOMEDCT_US|N|
C4039118|The edentulous span is confined to a single arch.|SNOMEDCT_US|N|
C4039166|Unusually large or small tooth with abnormalities of the crown form or root configuration.|SNOMEDCT_US|N|
C4039167|The upper canine is positioned mesial to the embrasure between the lower canine and first premolar, the canine occlusion is called Class II.|SNOMEDCT_US|N|
C4039194|The surface remains intact with visible change, loss of mineral, localized demineralization where there is no observable localized breakdown or distinct cavity (hole).|SNOMEDCT_US|N|
C4039246|A past medical history of hematopoietic stem cell transplantation involving myeloablative chemoradiotherapy followed by stem cell rescue with autologous or human leukocyte antigen (HLA)-matched stem cells derived from a donor.|HPO|N|
C4039341|Past history of artificial enlargement of breast due to choice.|SNOMEDCT_US|N|
C4039410|Position and activity of the tongue that can effect the stability and retention of a mandibular complete denture.|SNOMEDCT_US|N|
C4039413|Infections with bacteria of the genus fusobacterium.|MONDO|N|
C4039679|Extreme cant to the condylar head beyond the usual normal range.|SNOMEDCT_US|N|
C4039695|The form and arrangement of the occlusal contacts in natural and artificial dentition.|SNOMEDCT_US|N|
C4039706|Palatal vault morphology that does not resist vertical or horizontal movement of the denture base.|SNOMEDCT_US|N|
C4039713|An indication that the patient''s condition is undetermined.|NCI|N|
C4039754|Upper respiratory tract infection symptoms include: laryngitis, pharyngitis, nasal congestion, rhinorrhea, sneezing and coryza.|SNOMEDCT_US|N|
C4039776|Migraine is due to low estrogen level during the contraceptive pill-free interval.|SNOMEDCT_US|N|
C4039788|Edentulous areas are found in both arches and the physiologic abutment support is compromised.|SNOMEDCT_US|N|
C4039848|Arrested carious lesion that is not advancing.|SNOMEDCT_US|N|
C4039859|The distance between the angle of the throat and soft tissue menton greater than 51mm+/-6mm.|SNOMEDCT_US|N|
C4039869|No significant morphology affecting the coronal morphology of the teeth.|SNOMEDCT_US|N|
C4039930|Angle formed by the junction of the posterior and lower borders of the lower jaw is above average.|SNOMEDCT_US|N|
C4039932|Finding of shortened, hypertonic pelvic floor musculature|SNOMEDCT_US|N|
C4039941|Undesirable contact of opposing occlusal surfaces on the nonworking side.|SNOMEDCT_US|N|
C4039962|Hamular notch is well defined to establish the posterior extension of the denture base.|SNOMEDCT_US|N|
C4039969|Pathology that affects the coronal morphology of 4 or more teeth in all sextants.|SNOMEDCT_US|N|
C4039999|Pathology that affects the coronal morphology of three or less teeth in a sextant.|SNOMEDCT_US|N|
C4040039|Angle formed by the junction of the posterior and lower borders of the lower jaw is below average.|SNOMEDCT_US|N|
C4040043|A rare histopathological disorder of unknown etiology characterized by the deposition of a subepithelial collagen band with accompanying inflammatory infiltrate.|SNOMEDCT_US|N|
C4040045|Condition where roots of adjacent teeth approximate each other resulting in minimal bone between teeth.|SNOMEDCT_US|N|
C4040105|Any posterior maxillary or mandibular span that is greater than 3 missing teeth or 2 molars; any edentulous span including anterior and posterior areas of 3 or more missing teeth.|SNOMEDCT_US|N|
C4040139|The shape of ridge following loss of teeth; the residual ridge morphology is the most objective criteria for the maxilla on examination of the oral cavity since measurement of the residual bone height by radiography is not reliable.|SNOMEDCT_US|N|
C4040152|A history of a first-degree relative with Marfan syndrome.|NCI|N|
C4040173|The distance between the angle of the throat and soft tissue menton less than 51mm+/-6mm.|SNOMEDCT_US|N|
C4040180|Hyperplastic, mobile anterior ridge that offers minimum support and stability of the denture base.|SNOMEDCT_US|N|
C4040290|Dental caries involving a discrete area of tooth not including an existing restoration.|SNOMEDCT_US|N|
C4040310|Palatal vault morphology that offers minimal resistance to vertical and horizontal movement of the denture base.|SNOMEDCT_US|N|
C4040336|Carious lesion of pit and fissure origin in occlusal areas and buccal or lingual pits.|SNOMEDCT_US|N|
C4040348|A past medical history of having had a surgical procedure to remove the adrenal glands.|HPO|N|
C4040474|A history of exposure during pregnancy of the mother of a fetus or child to ethanol (alcohol).|HPO|N|
C4040476|Residual bone height of 21mm or greater measured at the least vertical height of the mandible.|SNOMEDCT_US|N|
C4040478|For the permanent dentition having 32 teeth. For the primary dentition having 20 teeth.|SNOMEDCT_US|N|
C4040501|Woody tongue includes the involvement of the sublingual space causing elevation, posterior enlargement and protrusion of the tongue.|SNOMEDCT_US|N|
C4040569|Residual bone height of 16-20mm measured at the least vertical height of the mandible.|SNOMEDCT_US|N|
C4040739|The phenotypic spectrum of SERAC1 deficiency comprises MEGD(H)EL syndrome (3-methylglutaconic aciduria with deafness-dystonia, [hepatopathy], encephalopathy, and Leigh-like syndrome), juvenile-onset complicated hereditary spastic paraplegia (in 1 consanguineous family), and adult-onset generalized dystonia (in 1 adult male). MEGD(H)EL syndrome is characterized in neonates by hypoglycemia and a sepsis-like clinical picture for which no infectious agent can be found. During the first year of life feeding problems, failure to thrive, and/or truncal hypotonia become evident; many infants experience (transient) liver involvement ranging from undulating transaminases to prolonged hyperbilirubinemia and near-fatal liver failure. By age two years progressive deafness, dystonia, and spasticity prevent further psychomotor development and/or result in loss of acquired skills. Affected children are completely dependent on care for all activities of daily living; speech is absent.|GeneReviews|N|
C4040818|A lesion as a result of galvanic current in the oral cavity due to the presence of two or more dissimilar metals in dental restorations that are bathed in saliva, or a single metal restoration and two electrolytes, saliva and pulp tissue fluid, thus producing an electrolytic cell and an electric current. When such restorations touch each other, the current may be high enough to irritate the dental pulp and cause sharp pain. The anodic restoration or areas of a restoration are subject to electrolytic corrosion.|SNOMEDCT_US|N|
C4040876|Characterised by spillage of melanin from the basal keratinocytes into the underlying connective tissue of the lips.|SNOMEDCT_US|N|
C4040897|Mobile removable partial denture in the vertical direction.|SNOMEDCT_US|N|
C4040984|Residual vertical bone height of 10mm or less measured at the least vertical height of the mandible.|SNOMEDCT_US|N|
C4041026|A less aggressive and self-limited pathologic process that can develop without any obvious eliciting factor and is characterized by exposed necrotic bone involving the lingual mandible approximately at the level of the mylohyoid ridge.|SNOMEDCT_US|N|
C4041080|A disorder characterised by a decline primarily in intellectual function due to disease of the brain caused by a variety of acquired conditions such as cerebrovascular disease, Alzheimer''s disease, infections, adverse drug reactions and trauma.|SNOMEDCT_US|N|
C4041128|Hyperplastic, redundant anterior ridge.|SNOMEDCT_US|N|
C4041163|Decreased or absent display of maxillary and/or the mandibular incisal edge at rest.|SNOMEDCT_US|N|
C4041203|Loss of access hole filling material in screw-retained implants.|SNOMEDCT_US|N|
C4041319|A finding of mandible bone height in edentulous patients by examination of the oral cavity in prosthodontics; part of prosthodontic classification in assessment for dentures/devices.|SNOMEDCT_US|N|
C4041347|The edentulous span is confined to a single arch and one of the following: Any anterior maxillary span that does not exceed 2 missing incisors; any anterior mandibular span that does not exceed 4 missing incisors; or any posterior maxillary or mandibular span that does not exceed 2 premolars or 1 premolar and 1 molar.|SNOMEDCT_US|N|
C4041376|Pathology that affects the coronal morphology of 4 or more teeth in three or more sextants.|SNOMEDCT_US|N|
C4041431|A distal placement of the mandibular molar, a mesial relationship of the maxillary, or a combination of the two. The mesiobuccal cusp of the maxillary first molar occludes mesial to the buccal groove of the mandibular first molar, usually near the embrasure between the mandibular molar and second premolar. Subdivision of any malocclusion category denotes a unilateral malocclusion classification.|SNOMEDCT_US|N|
C4041465|The edentulous span is in both arches and one of the following: Any anterior maxillary span that does not exceed 2 missing incisors; any anterior mandibular span that does not exceed 4 missing incisors; any posterior maxillary or mandibular span that does not exceed 2 premolars or 1 premolar and 1 molar; or the maxillary or mandibular canine is missing.|SNOMEDCT_US|N|
C4041508|Decreased display of the maxillary incisal during a posed smile. Normal display should involve the whole maxillary incisors and interdental gingiva.|SNOMEDCT_US|N|
C4041527|Increased display of maxillary and/or mandibular incisal edge when the jaws are at rest. This translates to >1.91 mm for men and 3.40 mm in women for the maxilla; and >1.23 mm for men and 0.49 mm in women for the mandible.|SNOMEDCT_US|N|
C4041529|The upper canine is positioned in the embrasure between the lower canine and first premolar, the canine occlusion is called Class I.|SNOMEDCT_US|N|
C4041558|Congenital nonprogressive cone-rod synaptic disorder (CRSD) is characterized by stable low vision, nystagmus, photophobia, a normal or near-normal fundus appearance, and no night blindness. Electroretinography shows an electronegative waveform response to scotopic bright flash, near-normal to subnormal rod function, and delayed and/or decreased to nonrecordable cone responses (Traboulsi, 2013; Khan, 2014).|OMIM|N|
C4042755|Excessive or unnecessary utilization of health services by patients or physicians.|MSH|N|
C4042763|Postoperative morbidity in patients recovering from general anesthesia where a depressed neuromuscular response due to residual PARESIS continues beyond a defined ANESTHESIA RECOVERY PERIOD.|MSH|N|
C4042784|A group of disorders characterized by physiological and psychological disturbances in appetite or food intake.|MSH|N|
C4042788|Tumors or cancer found specifically in the human left BREAST.|MSH|N|
C4042789|Tumors or cancer found specifically in the human right BREAST.|MSH|N|
C4042798|Persistent detrimental effects from treatment for a condition. Included are effects from surgery such as POSTOPERATIVE COMPLICATIONS, and from DRUG THERAPY, such as CHEMICALLY INDUCED DISORDERS, or other THERAPEUTICS. Failure to attain a desired outcome from treatment for the condition is not considered an adverse effect.|MSH|N|
C4042805|Congenital anomaly in which both kidneys are located on the same side often fused.|MSH|N|
C4042834|Emotional distress caused by repeated or prolonged expression of compassion or empathy. It may occur in individuals working in care giving professions.|MSH|N|
C4042861|A sub-PHENOTYPE of obese individuals who have a risk for CARDIOVASCULAR DISEASES between that of healthy individuals with normal weight and unhealthy individuals with obesity.|MSH|N|
C4042866|A transient exacerbation of symptoms of an existing disease or condition.|MSH|N|
C4042891|Abnormal sleep-wake schedule or pattern associated with the CIRCADIAN RHYTHM which affect the length, timing, and/or rigidity of the sleep-wake cycle relative to the day-night cycle.|MSH|N|
C4042906|A salivary gland carcinoma that has material basis in a chromosomal translocation that results in an ETV6-NTRK3 fusion gene.|MONDO|N|
C4042908|An indication that antibodies have developed and become detectable in the serum.|NCI|N|
C4042924|These disorders are related to both SCHIZOPHRENIA SPECTRUM AND OTHER PSYCHOTIC DISORDERS and DEPRESSIVE DISORDER in terms of symptomatology, family history, and genetics. (DSM-5).|MSH|N|
C4042925|Disorders in which exposure to a traumatic or stressful event is explicitly a diagnostic criterion.|MSH|N|
C4042933|Diagnosed when there are specific deficits in an individual''s ability to perceive or process information efficiently and accurately. This disorder first manifests during the years of formal schooling and is characterized by persistent and impairing difficulties with learning foundational academic skills in reading, writing, and/or math. The individual''s performance of the affected academic skills is well below average for age, or acceptable performance levels are achieved only with extraordinary effort. Specific learning disorder may occur in individuals identified as intellectually gifted and manifest only when the learning demands or assessment procedures (e.g., timed tests) pose barriers that cannot be overcome by their innate intelligence and compensatory strategies. For all individuals, specific learning disorder can produce lifelong impairments in activities dependent on the skills, including occupational performance. (from DSM-V)|MSH|N|
C4042945|Acute form of MALNUTRITION which usually affects children, characterized by a very low weight for height (below -3z scores of the median World Health Organization standards), visible severe wasting, or occurrence of nutritional EDEMA. It can be a direct or indirect cause of fatality in children suffering from DIARRHEA and PNEUMONIA. Do not confuse with starvation, a condition in which the body is not getting enough food, usually for extended periods of time.|MSH|N|
C4045968|Low ambient oxygen tension associated with ALTITUDE.|MSH|N|
C4045969|Limitations, challenges, and impediments to healthcare practice and patient recovery.|MSH|N|
C4046039|Remedial treatment or preventive procedures of a disease which is done too frequently or excessively often from OVERDIAGNOSIS.|MSH|N|
C4046048|Granulomatous hypophysitis is rare pathology that mimics pituitary adenoma.|MONDO|N|
C4047814|Body mass index 5 percentile to less than 85 percentile.|SNOMEDCT_US|N|
C4048179|An electrocardiographic finding of pathologic Q waves, which is suggestive of myocardial infarction of one or more regions of the heart, without evidence of current or ongoing acute infarction. No specification is provided for localization. (CDISC)|NCI|N|
C4048181|Diminished ability to maintain the integument|CCC|N|
C4048184|A non-neoplastic or neoplastic disorder affecting the trochlear nerve (IVth cranial nerve).|NCI|N|
C4048194|A non-neoplastic proliferation of morphologically bland C-cells with a diffuse growth pattern in the thyroid gland.|NCI|N|
C4048195|Autosomal dominant hypocalcemia is characterized by low levels of calcium in the blood (hypocalcemia). Affected individuals can have an imbalance of other molecules in the blood as well, including too much phosphate (hyperphosphatemia) or too little magnesium (hypomagnesemia). Some people with autosomal dominant hypocalcemia also have low levels of a hormone called parathyroid hormone (hypoparathyroidism). This hormone is involved in the regulation of calcium levels in the blood. Abnormal levels of calcium and other molecules in the body can lead to a variety of signs and symptoms, although about half of affected individuals have no associated health problems.\n\nThe most common features of autosomal dominant hypocalcemia include muscle spasms in the hands and feet (carpopedal spasms) and muscle cramping, prickling or tingling sensations (paresthesias), or twitching of the nerves and muscles (neuromuscular irritability) in various parts of the body. More severely affected individuals develop seizures, usually in infancy or childhood. Sometimes, these symptoms occur only during episodes of illness or fever.\n\nSome people with autosomal dominant hypocalcemia have high levels of calcium in their urine (hypercalciuria), which can lead to deposits of calcium in the kidneys (nephrocalcinosis) or the formation of kidney stones (nephrolithiasis). These conditions can damage the kidneys and impair their function. Sometimes, abnormal deposits of calcium form in the brain, typically in structures called basal ganglia, which help control movement.\n\nA small percentage of severely affected individuals have features of a kidney disorder called Bartter syndrome in addition to hypocalcemia. These features can include a shortage of potassium (hypokalemia) and magnesium and a buildup of the hormone aldosterone (hyperaldosteronism) in the blood. The abnormal balance of molecules can raise the pH of the blood, which is known as metabolic alkalosis. The combination of features of these two conditions is sometimes referred to as autosomal dominant hypocalcemia with Bartter syndrome or Bartter syndrome type V.\n\nThere are two types of autosomal dominant hypocalcemia distinguished by their genetic cause. The signs and symptoms of the two types are generally the same.|MedlinePlus Genetics|N|
C4048196|Beta-mannosidosis is an autosomal recessive lysosomal storage disease of glycoprotein catabolism caused by a deficiency of lysosomal beta-mannosidase activity. The most severely affected patients show developmental delay and mental retardation, but there are differing levels of severity and some patients may have comparatively mild disease (Bedilu et al., 2002) The disorder was first described in goats (Jones and Dawson, 1981), who have a more severe neurodegenerative disorder than that seen in humans.|OMIM|N|
C4048200|A papillary intralymphatic angioendothelioma that occurs during childhood.|NCI|N|
C4048234|An undifferentiated soft tissue sarcoma characterized by the presence of a malignant spindle cell infiltrate with amphophilic or palely eosinophilic cytoplasm.|NCI|N|
C4048267|A morphologic finding referring to the presence of vacuoles within the cytoplasm of the cells.|NCI|N|
C4048268|A form of loss of vision caused by damage to the visual cortex rather than a defect in the eye.|HPO|N|
C4048270|An abnormally decreased level of immunoglobulin in blood.|HPO|N|
C4048273|Atrophy of the choroid and retinal layers of the fundus.|HPO|N|
C4048283|A disorder characterized by the failure to use developmentally expected speech sounds that are appropriate for the individual''s age (i.e., the individual makes errors in sound production or use or omits sounds such as final consonants).|NCI|N|
C4048297|A condition characterized by abnormal proliferation of fibrous tissue in the compartment posterior to the peritoneum, for which no underlying cause has been identified.|NCI|N|
C4048303|A benign, intermediate, or malignant bone tumor characterized by the presence of osteoclast-like giant cells. Clinical presentation includes pain, edema, and decreased range of motion in the affected joint.|NCI|N|
C4048304|An undifferentiated soft tissue sarcoma characterized by the presence of uniform round or ovoid malignant cells with a high nuclear to cytoplasmic ratio.|NCI|N|
C4048306|Multiple endocrine neoplasia type 2 (MEN2) includes the following phenotypes: MEN2A, FMTC (familial medullary thyroid carcinoma, which may be a variant of MEN2A), and MEN2B. All three phenotypes involve high risk for development of medullary carcinoma of the thyroid (MTC); MEN2A and MEN2B involve an increased risk for pheochromocytoma; MEN2A involves an increased risk for parathyroid adenoma or hyperplasia. Additional features in MEN2B include mucosal neuromas of the lips and tongue, distinctive facies with enlarged lips, ganglioneuromatosis of the gastrointestinal tract, and a marfanoid habitus. MTC typically occurs in early childhood in MEN2B, early adulthood in MEN2A, and middle age in FMTC.|GeneReviews|N|
C4048328|A tumor of the uterine cervix.|HPO|N|
C4048549|A gonadal or extragonadal malignant neoplasm that arises from germ cells. Representative examples include embryonal carcinoma, yolk sac tumor, and seminoma.|NCI|N|
C4048572|A morphological abnormality visible upon biopsy of the germinal epithelium of the testis in which the cellularity of the germinal epithelium is reduced in general, so that all stages of germ cells (spermatogonia, spermatocytes, and spermatids) are present but reduced in number. This term applies to biopsies with some tubules showing diminished amounts of qualitatively complete spermatogenesis in combination with a vast majority of tubules that lack germ cells.|HPO|N|
C4048700|An uncommon variant of rhabdomyosarcoma with sclerosing morphology. It usually arises from the limbs.|NCI|N|
C4048704|An autosomally dominant inherited form of palmoplantar keratoderma that is characterized by a non-gradient diffuse pattern and often, hyperhidrosis of the palms of the hands and soles of the feet. It does not extend beyond the palms, knucklels pads, nails, and the soles.|NCI|N|
C4048705|An increased concentration of methionine in the blood.|HPO|N|
C4048706|A response indicating that an individual is unable to do something.|NCI|N|
C4048747|A rare form of juvenile idiopathic arthritis characterized by distal and symmetrical polyarthritis (more than 5 joints) with presence of rheumatoid factor and possible evolution towards the appearance of erosions and joint destruction.|ORPHANET|N|
C4048750|Reduced motility through the sphincter of Oddi, resulting in impedance of bile and pancreatic juice flow from the common bile duct into the duodenum.|HPO|N|
C4048751|A benign neoplasm or hamartoma composed of melanocytes.|NCI|N|
C4048808|An electrocardiographic finding of supraventricular tachycardia involving the sinus node in which a patient has an atypically high heart rate which cannot be explained by factors such as fever, exercise, hypovolemia, etc.|NCI|N|
C4048809|Schwannomatosis is characterized by a predisposition to develop multiple schwannomas and, less frequently, meningiomas. Individuals with schwannomatosis most commonly present between the second and fourth decade of life. The most common presenting feature is localized or diffuse pain or asymptomatic mass. Schwannomas most often affect peripheral nerves and spinal nerves. Meningiomas occur in about 5% of individuals with schwannomatosis and have only been reported in individuals with SMARCB1-related schwannomatosis. Malignancy remains a theoretic risk especially in individuals with a SMARCB1 pathogenic variant.|GeneReviews|N|
C4048826|Infections with bacteria LEPTOSPIRA INTERROGANS.|MSH|N|
C4048833|Sharp pointed superior portion of the ear, with variable overfolding of the helix.|HPO|N|
C4049004|Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the NHS gene.|MONDO|N|
C4049006|A dysgammaglobulinemia characterized by low or undetectable serum levels of immunoglobulin class A (IgA). It is the most common primary antibody deficiency. It may be inherited or the reversible sequela of infection or certain drugs. It may be caused by decreased or inefficient class-switching from progenitor B cells without any corresponding decreases in the other isotypes. Though affected persons may be asymptomatic, low levels of IgA will reduce the immune system''s ability to combat infection where IgA is normally secreted, at mucosal surfaces. Selective IgA deficiency is seen in greater proportion among patients with autoimmune disorders.|NCI|N|
C4049066|Any cone-rod dystrophy in which the cause of the disease is a mutation in the DRAM2 gene.|MONDO|N|
C4049090|Androgenetic alopecia is characterized by a loss of hair from the scalp that follows a defined pattern (Hamilton, 1951). It occurs in women as well as in men. It is caused by a shortening of the anagen (growth) phase and miniaturization of the hair follicle, which results in the formation of progressively thinner, shorter hair (Bergfeld, 1995). In men, the condition is often referred to as male pattern baldness (MPB) and appears to be androgen-dependent (Hamilton, 1942). The condition is hereditary, and follows a pattern that may be consistent with an autosomal dominant trait (Osborn, 1916).
Linkage evidence for an autosomal locus on 3q26 (AGA1) has been identified (Hillmer et al., 2008). See 300710 (AGA2) for a discussion of X linkage of androgenetic alopecia. A third locus has been found on chromosome 20p11 (AGA3; 612421).|OMIM|N|
C4049139|A response indicating that something is a little better.|NCI|N|
C4049181|A form of spondyloarthritis that is found in some patients with inflammatory bowel disease.|NCI|N|
C4049202|A hereditary disorder that leads to a selective defect in renal or intestinal magnesium absorption, resulting in a low serum magnesium concentration.|NCI|N|
C4049241|This syndrome has characteristics of hyperlaxity of the skin involving the entire body. It has been described in six patients. The phenotype is linked to a deficiency in vitamin K-dependent clotting factors and the syndrome has been associated with mutations in the GGCX gene. This gene encodes gamma-glutamyl carboxylase, an enzyme that has already been implicated in congenital vitamin K-dependent clotting factor deficiencies. This syndrome should be distinguished from pseudoxanthoma elasticum and cutis laxa in which the excessive skin folding is limited to specific zones.|SNOMEDCT_US|N|
C4049259|Breast adenocarcinoma that does not respond to hormone therapy.|NCI|N|
C4049262|This syndrome describes an explosive-onset, potentially fatal acute epileptic encephalopathy that develops in previously healthy children and adolescents following the onset of a non-specific febrile illness. Usually presents in 3-15 year olds that have previously been healthy and developmentally normal. It always comes after a simple febrile illness. Manifestations include the sudden onset of convulsive and recurrent focal seizures. This is followed by refractory focal epilepsy along with a decline in memory and cognition. Psychiatric disorders and occasionally motor disability can be present in some cases. In serious cases, the disease progression can lead to a vegetative or semi-conscious state or even death. There may be a genetic cause for the disease, as seen in Dravet syndrome, but as yet no causative genes have been identified.|SNOMEDCT_US|N|
C4049276|Systolic anterior motion of the mitral valve (SAM) is a paradoxical motion of the anterior, and occasionally posterior, mitral valve leaflet towards the left ventricular outflow tract (LVOT) during systole.|HPO|N|
C4049282|Narrowing of the larynx, commonly occuring during viral respiratory tract infections, in particular in children, leads to symptoms such as hoarseness, a barking cough, stridor, and sometimes dyspnea and respiratory failure.|HPO|N|
C4049312|A focal defect in the elastic lamina of the aortic wall that leads to localized medial disruption and potential rupture.|HPO|N|
C4049328|Renal medullary carcinoma is a rare, aggressive subtype of renal cell carcinoma characterized by a large, white or tan, firm, infiltrative tumor with microabscess-like foci centered in the renal medulla, typically presenting with hematuria, abdominal/flank pain, weight loss and fever. It is associated with sickle cell trait and disease and metastasis to the bones and lungs is common at time of diagnosis.|ORDO|N|
C4049342|An infection of bone of the foot.|HPO|N|
C4049375|Transitory imbalance that may be caused by exercise, tachycardia, or emotion. It is characterised by angina because of the increased oxygen demand.|SNOMEDCT_US|N|
C4049455|A rare acquired idiopathic dermal tissue disorder characterised by numerous asymptomatic 2-3 millimetre yellowish, non-follicular papules that tend to converge into cobblestone-like plaques. The plaques are distributed symmetrically over the posterior neck, supraclavicular region, axillae, and sometimes abdomen. Unlike pseudoxanthoma elasticum, these skin lesions show select elimination (absence or marked loss) of elastic fibres in the papillary dermis and there is no systemic involvement.|SNOMEDCT_US|N|
C4049489|A condition characterized by the presence of functioning endometrial tissue in the lung, pleura, chest wall, and/or diaphragm.|NCI|N|
C4049507|The reemergence of urothelial carcinoma after a period of remission.|NCI|N|
C4049592|An eccentric abnormal localized widening (dilatation) of the abdominal aorta that involves only a portion of the circumference of the vessel wall.|HPO|N|
C4049599|A DNA repair abnormality caused by mutations in one or more genes that are involved in homologous recombination repair. Deficient homologous recombination is associated with numerous neoplastic diseases and developmental disorders related to chromosomal nondisjunction.|NCI|N|
C4049612|A decrease in the number of bone marrow plasma cells to protocol-defined level(s).|NCI|N|
C4049615|Enlargement of the diameter of the ureter, which can be partial or complete.|NCI|N|
C4049618|A benign myoepithelioma characterized by the presence of a minor ductal component.|NCI|N|
C4049622|A finding of diffuse metabolic activity at the primary tumor or nodal sites that is greater than background uptake but less than liver uptake.|NCI|N|
C4049629|A primarily uterine reaction with generally indistinct borders and two recognizable regions. These regions are an antimesometrial region containing closely packed mesenchymal cells and a mesometrial region containing mesometrial cells with long cytoplasmic processes and abundant glycogen. (INHAND)|NCI|N|
C4049636|Gene expression cluster 1 as determined by Recognition of Outliers by Sampling Ends (ROSE) in high-risk B-precursor acute lymphoblastic leukemia.|NCI|N|
C4049637|A decrease in signs of cancer, supported by molecular analysis.|NCI|N|
C4049638|A small vessel vasculitis characterized by neutrophilic inflammation predominantly limited to the superficial cutaneous postcapillary venules and without systemic vasculitis or glomerulonephritis. Typical presentation is of unifocal or multifocal palpable purpura on the lower extremities.|ORDO|N|
C4049650|Familial glucocorticoid deficiency is an autosomal recessive disorder resulting from defects in the action of adrenocorticotropic hormone (ACTH) to stimulate glucocorticoid synthesis in the adrenal. Production of mineralocorticoids by the adrenal is normal. Patients present in early life with low or undetectable cortisol and, because of the failure of the negative feedback loop to the pituitary and hypothalamus, grossly elevated ACTH levels (summary by Clark et al., 2009).
Genetic Heterogeneity of Familial Glucocorticoid Deficiency
Familial glucocorticoid deficiency-2 (GCCD2; 607398) is caused by mutation in the MRAP gene (609196) on chromosome 21q22. GCCD3 (609197) has been mapped to chromosome 8q11.2-q13.2. GCCD4 with or without mineralocorticoid deficiency (614736) is caused by mutation in the NNT gene (607878) on chromosome 5p12. GCCD5 (617825) is caused by mutation in the TXNRD2 gene (606448) on chromosome 22q11.|OMIM|N|
C4049653|The formation of a clot within a stent more than one year after the stent is placed. (Cutlip DE, Windecker S, Mehran R, et al. Clinical End Points in Coronary Stent Trials: A Case for Standardized Definitions. Circulation. 2007;115:2344-2351)|NCI|N|
C4049701|Nephrotic syndrome in which there is relapse occurring two or more times in the first six months, or four or more times in a year.|NCI|N|
C4049702|Segmental scarring of the glomerulus, which may result in isolated proteinuria or nephrotic syndrome, which affects only part of the glomerulus and only some of the glomeruli. Additionally, the Not Otherwise Specified classification excludes FSGS tip, perihilar, collapsing, and cellular variants. (D''Agati VD, et al. ""Pathologic Classification of Focal Segmental Glomerulosclerosis: A Working Proposal."" Am J Kidney Dis 43.2 (2004): 368-82.)|NCI|N|
C4049705|A response indicating that a person''s extremity pain is at a moderate level: not continuous but disabling when present and requiring occasional or intermittent use of narcotic (or equivalent) medication.|NCI|N|
C4049706|A subjective score of 3 on a perceived exertion scale that ranges from 0: Nothing at all to 10: Maximal.|NCI|N|
C4049710|Gene expression cluster 4 as determined by Recognition of Outliers by Sampling Ends (ROSE) in high-risk B-precursor acute lymphoblastic leukemia.|NCI|N|
C4049711|A lung adenocarcinoma characterized by the presence of mildly and moderately differentiated adenocarcinoma cells across the alveolar walls with at least one focus of invasive carcinoma measuring more than 5 mm in greatest dimension.|NCI|N|
C4049712|The formation of a clot within a stent greater than 24 hours but less than thirty days after the stent is placed. (Cutlip DE, Windecker S, Mehran R, et al. Clinical End Points in Coronary Stent Trials: A Case for Standardized Definitions. Circulation. 2007;115:2344-2351)|NCI|N|
C4049713|A subjective score of 10 on a perceived exertion scale that ranges from 0: Nothing at all to 10: Maximal.|NCI|N|
C4049714|Familial glucocorticoid deficiency is an autosomal recessive disorder resulting from resistance to the action of adrenocorticotropin (ACTH) on the adrenal cortex, which stimulates glucocorticoid production. Affected individuals are deficient in cortisol and, if untreated, are likely to succumb to hypoglycemia or overwhelming infection in infancy or childhood (summary by Metherell et al., 2005).
For a general phenotypic description and a discussion of genetic heterogeneity of familial glucocorticoid deficiency, see GCCD1 (202200).|OMIM|N|
C4049796|Any structural anomaly of the heart and blood vessels.|HPO|N|
C4049799|An electrocardiographic tracing demonstrating atrial fibrillation that is present during the entire recording.|NCI|N|
C4049822|The absence of change or mild changes of metabolic tumor activity in all relevant lesions based on a pre-defined threshold.|NCI|N|
C4049863|The summary or conclusion of the most important radiologic findings.|NCI|N|
C4049867|A rare tumor-like lesion of the hands and feet characterized by the presence of hemorrhagic fibrous tissue, hemosiderin deposition, osteoclast-like giant cells which are irregularly distributed, and reactive bone formation. Pain and swelling are the most frequent symptoms. It may recur following curettage, but is usually cured after a second procedure.|NCI|N|
C4049883|A ureterocele with a small, obstructive orifice.|NCI|N|
C4049940|An electrocardiographic tracing demonstrating three normal QRS complexes followed by a premature ventricular contraction over the course of three or more consecutive cycles; a regularly irregular rhythm of normal to abnormal QRS complexes in a 3-1 ratio.|NCI|N|
C4049993|Chronic tubulointerstitial disease resulting from aristolochic acid.|NCI|N|
C4050003|A response indicating: I don''t even know my arm/leg is there; my arm/leg is back to normal as far as I am concerned; I rarely or never think about my arm/leg.|NCI|N|
C4050004|A response indicating: I''m very aware of my arm/leg; my arm/leg feels like an alien part; my arm/leg has a mind of its own; I hide or cover my arm/leg; it seems that my arm/leg is not part of me.|NCI|N|
C4050005|A response indicating: I''ve got to accept my arm/leg the way it is; I''m learning how to use my arm/leg more and just trying to not really concentrate on it, but try to adapt my arm/leg to different ways of life; I''m going to have to learn to live with arm/leg the way it is now.|NCI|N|
C4050006|A response indicating: I never realized I could do so many things with my arm/leg; I''m used to my arm/leg now, it''s part of me; it''s amazing what you can learn to do.|NCI|N|
C4050008|A subjective response indication that an individual is neither satisfied nor dissatisfied.|NCI|N|
C4050012|A ureterocele in which the orifice is distal to the external urinary sphincter.|NCI|N|
C4050019|A decrease in the size and the extent of tissue involvement by cancer, based on physical exam, such as palpation.|NCI|N|
C4050064|Ring chromosome 5 syndrome is a rare chromosomal anomaly syndrome, with high phenotypic variability, principally characterized by a neonatal mewing cry, severe developmental delay and intellectual disability, short stature, hypotonia, dysmorphic features (incl. microcephaly, facial asymmetry, hypertelorism, epicanthal folds, abnormal ears, micro/retrognathia), congenital cardiac anomalies (such as atrial and ventricular septal defect, tricuspid insufficiency, hypoplastic aorta) and skeletal abnormalities (e.g. hypoplastic thumbs, anomalous ulna/radius, dysplastic metacarpals and phalanges).|ORDO|N|
C4050094|The disappearance of all signs of cancer based on physical exam, such as palpation.|NCI|N|
C4050122|An electrocardiographic tracing demonstrating intermittent atrial fibrillation in the presence of sinus rhythm, junctional rhythm, or an atrial paced rhythm.|NCI|N|
C4050123|A decrease in the ability of cells to respond to damaged DNA and to repair the damage. This DNA repair deficiency can be caused by mutations in the genes involved in the DNA damage response and/or DNA repair.|NCI|N|
C4050131|A response indicating that a person finds their extremity to be emotionally acceptable.|NCI|N|
C4050147|An intraosseous benign tumor of notochord origin that arises in the bones of the base of the skull, vertebral bodies, sacrum or coccyx. It contains vacuolated tumor cells without atypia, but lacks myxoid matrix, necrosis, and lobular architecture, which are features that characterize its malignant counterpart, chordoma. Most lesions are incidental findings.|NCI|N|
C4050154|A response indicating that a person has no ability to lift their arm and hand.|NCI|N|
C4050155|A response indicating that a person requires no physical support.|NCI|N|
C4050156|A biochemical reaction that covalently attaches a nitro group to the carbon at position 3 of the side chain benzene ring of L-tyrosine.|NCI|N|
C4050171|A finding of aviremia at a predetermined time point after the end of planned or actual treatment.|NCI|N|
C4050175|The disappearance of cancer in response to treatment, including platelet and white blood cell counts returning to normal levels, a non-palpable spleen, and no immature white blood cells present in the blood unless it is a regenerating marrow following treatment.|NCI|N|
C4050178|A decrease of metabolic tumor activity in all relevant lesions, based on a pre-defined threshold.|NCI|N|
C4050223|An increase of metabolic tumor activity in all relevant lesions, based on pre-defined thresholds, or the development of new lesions.|NCI|N|
C4050242|The disappearance of all signs of cancer, supported by pathological examination.|NCI|N|
C4050248|A subjective score of 11 on a perceived exertion scale that ranges from 6: No exertion at all to 20: Maximal exertion.|NCI|N|
C4050249|A finding of metabolic activity at the primary or nodal sites that is greater than liver uptake, but can be attributed to inflammation activity.|NCI|N|
C4050250|A finding of focal metabolic activity at the primary or nodal sites that is greater than liver uptake.|NCI|N|
C4050301|Confirmatory presence of parasitic microorganisms.|NCI|N|
C4050307|A finding of disappearance of metabolic tumor activity in target and non-target lesions, marked by a decrease in tumor standardized uptake value to the level of surrounding normal tissue.|NCI|N|
C4050308|The disappearance of all signs of cancer, supported by molecular analysis.|NCI|N|
C4050309|A finding indicating the involvement of the central nervous system by a malignant neoplasm.|NCI|N|
C4050313|Gene expression cluster 2 as determined by Recognition of Outliers by Sampling Ends (ROSE) in high-risk B-precursor acute lymphoblastic leukemia.|NCI|N|
C4050314|Gene expression cluster 3 as determined by Recognition of Outliers by Sampling Ends (ROSE) in high-risk B-precursor acute lymphoblastic leukemia.|NCI|N|
C4050315|Gene expression cluster 7 as determined by Recognition of Outliers by Sampling Ends (ROSE) in high-risk B-precursor acute lymphoblastic leukemia.|NCI|N|
C4050319|A focal lesion within the uterus consisting of markedly hypertrophied stromal cells with cytoplasmic glycogen and prominent nuclei.|NCI|N|
C4050364|The disappearance of all signs of cancer, including the absence of a detectable disease-related genetic abnormality, as determined by techniques such as karyotyping or FISH, in response to treatment.|NCI|N|
C4050405|A microscopic finding indicating the presence of a cellular infiltrate or isolated cells that have features suspicious for malignancy.|NCI|N|
C4050407|Glomerulonephritis in the context of granulomatosis with polyangiitis in which anti-neutrophil cytoplasm antibody (ANCA) is almost always present.|NCI|N|
C4050413|A gene expression subtype of acute lymphoblastic leukemia characterized by its expression level of the DDIT4L gene.|NCI|N|
C4050414|A finding of aviremia at a specified timepoint, early during the treatment period.|NCI|N|
C4050416|The confirmed disappearance of all signs of cancer, and absence of molecular or cytogenetic marker of disease, in response to treatment with additional biochemical, immunological and histopathological analyses to verify the CR.|NCI|N|
C4050462|A finding of strong focal metabolic activity at the primary or nodal sites that is greater than liver uptake.|NCI|N|
C4050465|A response indicating that a person''s extremity pain is severe: continuous and disabling and requiring continuous use of narcotic (or equivalent) medication.|NCI|N|
C4050466|A subjective score of 5 on a perceived exertion scale that ranges from 0: Nothing at all to 10: Maximal.|NCI|N|
C4050469|A subjective score of 2 on a perceived exertion scale that ranges from 0: Nothing at all to 10: Maximal.|NCI|N|
C4050504|A rare, well circumscribed, non-encapsulated tumor that arises in the oral cavity, most often the anterior tongue. It is characterized by the presence of round to spindle cells in a chondromyxoid or hyalinized stroma. Recurrences have been observed in a minority of patients.|NCI|N|
C4050513|A finding indicating that there is an improvement in the measures of disease burden, meeting a predetermined threshold, but not meeting partial response criteria.|NCI|N|
C4050549|The formation of a clot within a stent less than 24 hours after the stent is placed. (Cutlip DE, Windecker S, Mehran R, et al. Clinical End Points in Coronary Stent Trials: A Case for Standardized Definitions. Circulation. 2007;115:2344-2351)|NCI|N|
C4050550|The formation of a clot within a stent greater than thirty days but less than one year after the stent is placed. (Cutlip DE, Windecker S, Mehran R, et al. Clinical End Points in Coronary Stent Trials: A Case for Standardized Definitions. Circulation. 2007;115:2344-2351)|NCI|N|
C4050568|Acute leukemia patients are stratified into the high risk group when their minimal residual disease levels are higher than 0.05%.|NCI|N|
C4050581|A response indicating that a person has enthusiastic emotional acceptance of their extremity.|NCI|N|
C4053505|A non-invasive serous neoplasm that arises from the ovary and shows greater cellular proliferation and cytologic atypia as compared to benign ovarian serous tumors, but less as compared to low-grade ovarian serous carcinoma.|NCI|N|
C4053514|A very rare benign lesion that arises from the sinonasal tract. It usually affects infants and children. It presents as a polypoid mass and is composed of cartilage, myxoid stroma, and other mesenchymal elements.|NCI|N|
C4053516|A non-invasive neoplasm that arises from the ovary and is composed of gastrointestinal-type, mucin-containing epithelial cells. It shows greater cellular proliferation and cytologic atypia as compared to benign ovarian mucinous tumors.|NCI|N|
C4053521|A non-encapsulated, slow-growing, locally aggressive subcutaneous tumor characterized by the presence of adipocytes, hemosiderin-laden spindle cells, hemosiderin-laden macrophages, osteoclast-like giant cells, and scattered chronic inflammatory cells. It usually arises from the dorsum of the foot, ankle, dorsum of the hand, thigh, calf, or cheek. It may recur if it is not completely excised but does not metastasize.|NCI|N|
C4053528|A very rare, nonrhabdoid, intraventricular tumor with relatively favorable prognosis. It is characterized by the presence of neuroepithelial cells forming cribriform patterns, trabeculae, epithelial membrane antigen immunopositivity on epithelial surfaces, and loss of nuclear INI 1 expression.|NCI|N|
C4053530|A rare dermal and subcutaneous lesion that results from the aberrant development of neural crest-derived melanocytes. It affects the head and neck with a predilection for the scalp. It presents as a slowly enlarging multinodular plaque. Morphologically is characterized by the presence of melanocytes and structures with schwannian differentiation in the dermis and subcutaneous tissue.|NCI|N|
C4053713|An undifferentiated high grade pleomorphic sarcoma that arises from the bone and occurs during childhood.|NCI|N|
C4053714|An undifferentiated high grade pleomorphic sarcoma that arises from the bone and occurs during adulthood.|NCI|N|
C4053730|A cytogenetic abnormality that refers to the translocation of the short arm (p11) of chromosome 11 and the short arm (p11) of chromosome 16. It results in a FUS-CREB3L1 fusion.|NCI|N|
C4053732|The determination of the presence of actual or potential neoplastic tissue which has been left outside the boundary of a resected specimen within the patient.|NCI|N|
C4053740|A finding of both karyocytomegaly and multinucleated hepatocytes in the same lesion.|NCI|N|
C4053741|A molecular genetic abnormality indicating the presence of a mutation in exon 14 of the KIT gene located within 4q11-q12.|NCI|N|
C4053745|Kidney damage resulting from exposure to calcineurin inhibitors.|NCI|N|
C4053752|A response that is neither favorable nor unfavorable.|NCI|N|
C4053754|An acute myeloid leukemia associated with inv(3)(q21.3q26.2) resulting in the reposition of a distal GATA2 enhancer to activate MECOM expression. It may present de novo or follow a myelodysplastic syndrome. The clinical course is aggressive.|NCI|N|
C4053762|The underdevelopment of otherwise normal renal parenchyma, characterized by decreased nephron size and possibly a decreased number of nephrons at birth.|NCI|N|
C4053765|Kidney disease associated with Schistosoma infection. Injury to the kidney may be a result of immunologically mediated glomerular or interstitial injury and/or a result of reflux nephropathy.|NCI|N|
C4053766|Rhizomelic dysplasia is proximal shortening of the limb. In the upper limb this is shortening of the humerus and in the lower limb the femur.|SNOMEDCT_US|N|
C4053769|Disease progression occurring after a partial response.|NCI|N|
C4053775|A congenital abnormality of the pituitary that is responsible for pituitary deficiency with usual manifestation of a triad of very thin or interrupted pituitary stalk, an ectopic (or absent) posterior pituitary and hypoplasia or aplasia of the anterior pituitary. In the majority of cases no genetic cause is found, however, the presence of familial forms and the association with microphallus and congenital abnormalities, particularly of the eyes, suggest an antenatal origin.|SNOMEDCT_US|N|
C4053778|A group of cell that show altered characteristics in comparison to normal cell types and are confined to a specific area of the sample.|NCI|N|
C4053780|An improvement of neutrophil count as a response to treatment.|NCI|N|
C4053782|Clinical and/or laboratory evidence of reemergence of acute myeloid leukemia less than 12 months from diagnosis.|NCI|N|
C4053784|A molecular genetic abnormality indicating deregulation of the ERG oncogene.|NCI|N|
C4053792|Glomerulonephritis in which anti-neutrophil cytoplasm antibody (ANCA) is almost always present and vasculitis is limited to the kidney.|NCI|N|
C4053795|A pituitary neuroendocrine tumor/microadenoma not associated with a hormonal syndrome.|NCI|N|
C4053796|Kidney damage resulting from exposure to non-steroidal anti-inflammatory drugs (NSAIDs).|NCI|N|
C4053803|The amount of time required to reach a specific tidal volume as measured from the start of exhalation.|NCI|N|
C4053804|A corpus luteum-like structure with a retained oocyte and variably luteinized granulosa cells.|NCI|N|
C4053811|A subjective response indicating that an individual is somewhat satisfied.|NCI|N|
C4053813|A chromosomal translocation involving the ETV6 gene on chromosome 12p13 and HLXB9 gene on chromosome 7q36.|NCI|N|
C4053814|A chromosomal abnormality consisting of the translocation of 5q32 with 17q21.|NCI|N|
C4053815|A cytogenetic abnormality that refers to the translocation of the short arm (p36) of chromosome 1 and the long arm (q23-25) of chromosome 3. It is associated with WWTR1/CAMTA1 fusions.|NCI|N|
C4053816|A chromosomal translocation involving the PAX7 gene on chromosome 1p36 and the FOXO1 gene on chromosome 13q14.|NCI|N|
C4053819|A cytogenetic abnormality that refers to the translocation involving the genes C11orf95 on chromosome 11 and MKL2 on chromosome 16 resulting in C11orf95-MKL2 fusion.|NCI|N|
C4053823|Kidney damage resulting from exposure to mechanistic target of rapamycin (mTOR) kinase inhibitors.|NCI|N|
C4053826|The average rate of pressure change over time within the left ventricle, which is used as a measurement of left ventricular contractility.|NCI|N|
C4053855|A fusion protein that results from a t(1;3)(p36;q23-25). This fusion protein expression is seen in virtually all cases of epithelioid hemangioendothelioma and is unique to this neoplasm.|NCI|N|
C4053857|A group of conditions comprising dysfunction of the storage and elimination of urine.|NCI|N|
C4053862|A description of the change in viral disease status in response to treatment.|NCI|N|
C4053863|The subject remains viremic during the treatment period and the decrease in viral load from baseline at a specified timepoint is above a predetermined threshold.|NCI|N|
C4053864|The subject remains viremic during the treatment period and the decrease in viral load from baseline at a specified timepoint is below or equal to a predetermined threshold.|NCI|N|
C4053865|The subject remains viremic during the treatment period.|NCI|N|
C4053866|A finding of aviremia at the end of the planned or actual end of treatment period.|NCI|N|
C4053867|A recurrence of the same virus after a finding of aviremia at the end of planned or actual treatment.|NCI|N|
C4053869|The subject becomes viremic during the treatment period after a period of treatment-induced aviremia or has an increase in viral load from nadir above a predetermined threshold during the treatment period.|NCI|N|
C4053870|Birth before 32 completed weeks of gestation (28 up to but not including 32 weeks).|HPO|N|
C4053871|Partial response with additional serum and urine M-protein reduction, but not meeting complete response.|NCI|N|
C4053872|Death of a live newborn during the first 24 hours of life|NCI|N|
C4053878|An electrocardiographic tracing demonstrating three or more consecutive QRS complexes of ventricular origin, irrespective of rate.|NCI|N|
C4053891|A surgically created external opening into the urinary tract.|NCI|N|
C4053892|The folding of a ureter, which results in the impediment of urine flow.|NCI|N|
C4053895|An increase in tumor size, based on a pre-defined threshold, or the development of new lesion(s), marked central fill-in of a lesion, or new enhancement of a previously homogeneously hypoattenuating nonenhancing mass.|NCI|N|
C4053897|An undifferentiated soft tissue sarcoma which cannot be further characterized.|NCI|N|
C4053898|An undifferentiated soft tissue sarcoma characterized by the presence of a malignant cellular infiltrate with epithelioid morphology.|NCI|N|
C4053899|An electrocardiographic finding of a rhythm that cannot be determined from the EKG, but that clearly does not originate in the ventricles or His Purkinje system. Typically, the QRS complexes are narrow, but aberration or preexcitation may be present.|NCI|N|
C4053901|A disease process that is increasing in scope or severity but the criteria for progressive disease is not met.|NCI|N|
C4053902|An exacerbation of ulcerative colitis.|NCI|N|
C4053907|An inherited form of tylosis that presents by one year and is characterized by benign palmoplantar keratoderma.|NCI|N|
C4053908|An inherited form of tylosis that presents between 5-14 years of age and is characterized by focal areas of nonepidermolytic palmoplantar keratoderma. Individuals have an increased incidence of esophageal carcinoma.|NCI|N|
C4053910|An evaluation of the change in tumor antigen quantity in response to the therapy.|NCI|N|
C4053934|Segmental glomerulopathy of localized intracapillary foam cells with adjacent, often vacuolated glomerular epithelial cells confluent to the origin of the proximal tubule.|NCI|N|
C4053936|Subnormal production of thyroglobulin, the glycoprotein precursor of thyroid hormones, presumed to result from loss-of-function mutation(s) in the TG gene.|NCI|N|
C4053937|The sensation of constriction or contraction in the throat area.|NCI|N|
C4053942|A finding indicating the involvement of the testis by a malignant neoplasm.|NCI|N|
C4053943|Less than expected testicular size.|NCI|N|
C4053944|Gross hematuria that occurs at the end of, or immediately after voiding.|NCI|N|
C4053945|A focus of hepatocytes containing well delineated circular clear spaces in the liver, often near mesenteric attachments such as the falciform ligament.|NCI|N|
C4053952|Systemic lupus erythematosus nephritis, with global or segmental subepithelial immune deposits or their morphologic sequelae by light microscopy and by immunofluorescence or electron microscopy, with or without mesangial alterations. (Weening, Jan J. et al. (2004). The Classification of Glomerulonephritis in Systemic Lupus Erythematosus Revisited. Journal of the American Society of Nephrology 15(2), 241-50.)|NCI|N|
C4053953|A subclass of lupus nephritis with at least 90% of glomeruli globally sclerosed without residual activity.|HPO|N|
C4053954|A subclass of lupus nephritis with normal glomeruli by light microscopy, but mesangial immune deposits by immunofluorescence.|HPO|N|
C4053955|A subclass of lupus nephritis with active or inactive diffuse, segmental or global endocapillary or extracapillary glomerulonephritis involving at least 50% of all glomeruli, typically with diffuse subendothelial immune deposits, with or without mesangial alterations.|HPO|N|
C4053956|Systemic lupus erythematosus nephritis characterized by active or inactive diffuse, segmental endo- or extracapillary glomerulonephritis that involves 50% or more of all glomeruli. (Weening, Jan J. et al. (2004). The Classification of Glomerulonephritis in Systemic Lupus Erythematosus Revisited. Journal of the American Society of Nephrology 15(2), 241-50.)|NCI|N|
C4053957|Systemic lupus erythematosus nephritis, characterized by active or inactive diffuse, global endo- or extracapillary glomerulonephritis that involves 50% or more of all glomeruli. (Weening, Jan J. et al. (2004). The Classification of Glomerulonephritis in Systemic Lupus Erythematosus Revisited. Journal of the American Society of Nephrology 15(2), 241-50.)|NCI|N|
C4053958|A subclass of lupus nephritis with purely mesangial hypercellularity of any degree or mesangial matrix expansion by lightmicroscopy, with mesangial immune deposits. A few isolated subepithelial or subendothelial deposits may be visible by immunoflourescence or electron microscopy, but not by light microscopy.|HPO|N|
C4053959|A subclass of lupus nephritis with active or inactive focal, segmental or global endocapillary or extracapillary glomerulonephritis involving less than 50% of all glomeruli, typically with focal subendothelial immune deposits, with or without mesangial alterations|HPO|N|
C4053961|Syringomyelia associated with accumulation of cerebrospinal fluid in the spinal cord.|NCI|N|
C4053964|An electrocardiographic tracing demonstrating supraventricular tachycardia of greater than thirty seconds duration. Different thresholds, for rate and/or duration, may apply to different patient populations.|NCI|N|
C4053967|An electrocardiographic tracing demonstrating three or more consecutive QRS complexes of supraventricular origin, irrespective of rate.|NCI|N|
C4053982|The reemergence of a disorder as diagnosed by clinical and/or laboratory evidence following two or more documented periods of remission.|NCI|N|
C4053995|The size and extent of tissue involvement by cancer is neither decreasing nor increasing, based on CT scan and criteria-defined assessments.|NCI|N|
C4053999|An uncommon variant of rhabdomyosarcoma with spindle cell or sclerosing morphology. It affects both children and adults and it is more common in males.|NCI|N|
C4054000|Persistence of mature elongating spermatids in the seminiferous tubules after the normal stage of physiologic release.|NCI|N|
C4054001|Stoppage of flow of sperm due to obstruction.|NCI|N|
C4054006|A subjective response indicating that an individual is somewhat dissatisfied.|NCI|N|
C4054017|An electrocardiographic tracing demonstrating the simultaneous occurrence of a slowing sinus rate and AV block.|NCI|N|
C4054031|Subnormal concentration of the glycoprotein, sex hormone-binding globulin (SHBG), the primary transport protein for androgens and estrogens in serum, resulting in reduced concentrations of total sex steroids, but minimal change in concentrations of free sex steroids.|NCI|N|
C4054043|A chondrosarcoma arising within the cartilaginous cap of a pre-existing osteochondroma.|NCI|N|
C4054044|Hemophagocytic lymphohistiocytosis due to infections, autoimmune disorders, or underlying malignancies. Signs and symptoms include fever, lymphadenopathy, hepatomegaly, splenomegaly, and pancytopenia.|NCI|N|
C4054045|Collapsing glomerulopathy for which an underlying cause has been identified.|NCI|N|
C4054046|A chondrosarcoma that arises in a pre-existing enchondroma.|NCI|N|
C4054048|A tumor with perivascular epithelioid cell differentiation characterized by the presence of cords of neoplastic cells in a densely collagenous stroma.|NCI|N|
C4054065|A change or slight modification in the epithelial cells along the respiratory tract.|NCI|N|
C4054066|Renal tubular acidosis associated with sensorineural hearing loss, and which is typically associated with recessive mutations.|NCI|N|
C4054067|Tubular dysgenesis resulting from maternal exposure to a class of drugs known as angiotensin converting enzyme (ACE) inhibitors or angiotensin receptor blockers (ARB).|NCI|N|
C4054078|The return of a disease after a period of complete remission or partial remission.|NCI|N|
C4054079|The return of a disease after a period of complete remission.|NCI|N|
C4054080|A side effect of a drug or other treatment that is serious enough to necessitate a dose modification.|NCI|N|
C4054081|A reluctance to place any body weight on a limb, which is most commonly secondary to pain or discomfort.|NCI|N|
C4054083|Malignant germ cell tumor resistant to treatment.|NCI|N|
C4054084|A malignant germ cell tumor that occurs during childhood and is resistant to treatment.|NCI|N|
C4054085|Acute lymphoblastic leukemia that occurs in childhood and does not respond to treatment.|NCI|N|
C4054086|A megaureter in which there is retrograde flow of urine and a concomitant, episodic obstruction resulting from ureteral folding.|NCI|N|
C4054087|A megaureter that demonstrates retrograde urine flow without ureteral obstruction.|NCI|N|
C4054112|The reemergence of undifferentiated high grade pleomorphic sarcoma of bone in childhood after a period of remission.|NCI|N|
C4054113|The reemergence of lymphomatoid granulomatosis in childhood after a period of remission.|NCI|N|
C4054114|The reemergence of undifferentiated high grade pleomorphic sarcoma of bone in adulthood after a period of remission.|NCI|N|
C4054120|A tumor of the rat that arises from nerve tissue outside of the central nervous system.|NCI|N|
C4054121|An insulin-producing neuroendocrine tumor arising from beta cells of the rat pancreas.|NCI|N|
C4054122|A benign or malignant neuroendocrine neoplasm of the rat sympathetic nervous system that secretes catecholamines. It arises from the chromaffin cells of the rat adrenal medulla.|NCI|N|
C4054123|A broad classification for uncommon disorders in which the development of neoplasms occur in association with a characteristic set of signs or symptoms. These disorders commonly have a genetic basis. The types of neoplasms themselves are not necessarily uncommon.|NCI|N|
C4054125|An evaluation of the radiologic response of the disease to the therapy.|NCI|N|
C4054127|Tissue damage to the glomerulus and renal tubules resulting from irradiation, which is characterized by vascular endothelial damage, mesangial damage, platelet aggregation in the capillary loops, thickening of the glomerular arteriolar intimal layer, and atrophic tubules.|NCI|N|
C4054129|Gene expression cluster 8 as determined by Recognition of Outliers by Sampling Ends (ROSE) in high-risk B-precursor acute lymphoblastic leukemia.|NCI|N|
C4054130|Gene expression cluster 6 as determined by Recognition of Outliers by Sampling Ends (ROSE) in high-risk B-precursor acute lymphoblastic leukemia.|NCI|N|
C4054142|The measurement of the ability of the lung to store energy, which is required for passive expiration. Reactance consists of two components: the negative component reflects capacitive behavior (C) and corresponds to both the thoraco-pulmonary elasticity and to changes in the available lung volumes in the distal compartments of the lung; the positive component of reactance has inertial characteristics (I) describing the moving air column in the bronchial tree.|NCI|N|
C4054143|A measure of the lung''s ability to stretch and expand, either statically, the change in volume for a given applied pressure, or dynamically, the elasticity of the lung at any given time during the actual movement of air.|NCI|N|
C4054144|A parenchymal lesion, which may appear neoplastic in origin, that results from abnormal architecture of the renal calyx.|NCI|N|
C4054147|Deficiency or dysfunction of the enzyme prohormone convertase 1 associated with loss-of-function mutation(s) in the PCSK1 gene.|NCI|N|
C4054148|There is an increase in the size and extent of tissue involvement by cancer, based on CT scan and criteria-defined assessments.|NCI|N|
C4054149|Disease progression or the return of a disease after a period of remission, occurring after a hematologic improvement.|NCI|N|
C4054154|A non-Hodgkin lymphoma that arises from the bone, without lymph node or other extranodal involvement. The femur, spine, and pelvic bones are the most frequently affected areas. The majority of cases are diffuse large B-cell lymphomas. Most patients present with pain in the affected area. Systemic symptoms are rare.|NCI|N|
C4054155|Collapsing glomerulopathy for which no underlying cause has been identified.|NCI|N|
C4054156|Pre-existing nephrotic syndrome.|NCI|N|
C4054162|A posterior urethral valve, presumed to result from incomplete canalization of the urethra, that is located immediately distal to the vera montanum.|NCI|N|
C4054163|A posterior urethral valve extending from the vera montanum towards the distal meatus.|NCI|N|
C4054164|Death between 28 days and 1 year of life.|NCI|N|
C4054168|An infection at an anatomic location used for vascular access.|NCI|N|
C4054170|Obesity associated with variations in multiple genes.|NCI|N|
C4054176|An anomaly in the pituitary stalk that can be developmental, inflammatory, infiltrative, iatrogenic or traumatic.|NCI|N|
C4054188|B acute lymphoblastic leukemia characterized by a gene-expression profile similar to that of BCR-ABL1-positive B acute lymphoblastic leukemia, absence of the pathognomonic BCR-ABL1 rearrangement, alterations of lymphoid transcription factor genes, and a poor outcome.|NCI|N|
C4054192|An intracranial edema that develops around a tumor in the meninges or brain.|NCI|N|
C4054195|A relative measurement (percentage) of in situ component present in a carcinoma compared to the entire malignant cellular proliferation.|NCI|N|
C4054205|The diffusion capacity of the lungs for carbon monoxide adjusted for hemoglobin concentration, expressed as a proportion of the predicted normal value.|NCI|N|
C4054206|The diffusion capacity of the lungs for carbon monoxide adjusted for the ratio of hemoglobin concentration to alveolar volume, and expressed as a proportion of the predicted normal value.|NCI|N|
C4054207|The degree to which inhaled carbon monoxide diffuses from the alveoli into the blood, expressed as a proportion of the predicted normal value.|NCI|N|
C4054208|The calculated ratio of the lung''s alveolar volume with respect to its diffusion capacity for carbon monoxide, expressed as a proportion of the predicted normal value.|NCI|N|
C4054210|Congenital curvature of the penis.|NCI|N|
C4054224|Glomerulonephritis in the context of systemic, small vessel vasculitis in which anti neutrophil cytoplasm antibody (ANCA) is almost always present.|NCI|N|
C4054225|Glomerulonephritis in the context of eosinophilic-rich granulomatosis with polyangiitis, eosinophilia, asthma and commonly anti-neutrophil cytoplasmic antibody.|NCI|N|
C4054226|Glomerulonephritis with paucity of glomerular staining for immunoglobulins that may be accompanied by systemic, small vessel vasculitis containing no anti neutrophil cytoplasm antibody (ANCA).|NCI|N|
C4054230|An evaluation of the pathologic response of the disease to the therapy.|NCI|N|
C4054244|A decrease in the size and extent of tissue involvement by cancer, based on CT scan and criteria-defined assessments.|NCI|N|
C4054245|Mixed attenuation and some homogeneity of the metastases with a partially resolved peripheral rim.|NCI|N|
C4054251|An abnormality of the pancreatic and biliary ducts in which their junction occurs above the duodenal wall.|NCI|N|
C4054275|An immunohistochemical test result that indicates overexpression of PD-L1 in a tissue sample of a primary or metastatic malignant neoplasm.|NCI|N|
C4054278|Postnatal Hydronephrosis with the following clinical findings: 1) calyceal dilation and the ureter are the same as those in UTD P2, 2) the renal parenchymal is thinned, has increased echogenicity and/or has decreased corticomedullary differentiation, or 3) the bladder is abnormal (wall thickening, ureterocele, posterior urethral dilation). Cases in which there are parenchymal abnormalities but the APRPD is less than 15 mm, are classified as UTD P3. (Adapted from: Hiep T. Nguyen, Carol B. Benson, Bryann Bromley, Jeffrey B. Campbell, Jeanne Chow, Beverly Coleman, Christopher Cooper, Jude Crino, Kassa Darge, C.D. Anthony Herndon, Anthony O. Odibo, Michael J.G. Somers, Deborah R. Stein; Multidisciplinary consensus on the classification of prenatal and postnatal urinary tract dilation (UTD classification system); Pediatric Urology; December 2014 Volume 10, Issue 6, Pages 982-998)|NCI|N|
C4054279|Postnatal Hydronephrosis with the following clinical findings: 1) APRPD is greater than or equal to 15 mm, 2) the calyces may be dilated centrally and peripherally, 3) or a dilated ureter is visible, 4) the parenchymal thickness and appearance is normal, and 5) the bladder is normal. Cases in which there is peripheral calyceal dilation but the APRPD is less than 15 mm are classified as UTD P2. (Adapted from: Hiep T. Nguyen, Carol B. Benson, Bryann Bromley, Jeffrey B. Campbell, Jeanne Chow, Beverly Coleman, Christopher Cooper, Jude Crino, Kassa Darge, C.D. Anthony Herndon, Anthony O. Odibo, Michael J.G. Somers, Deborah R. Stein; Multidisciplinary consensus on the classification of prenatal and postnatal urinary tract dilation (UTD classification system); Pediatric Urology; December 2014 Volume 10, Issue 6, Pages 982-998)|NCI|N|
C4054281|Postnatal Hydronephrosis with the following clinical findings: 1) APRPD is 10 to less than 15 mm, 2) central calyceal dilation may be present, but peripheral calyceal dilation is considered to increase risk, 3) renal parenchyma should have normal thickness and appearance, 4) the ureter is not seen, and 5) the bladder is normal. If there is central calyceal dilation but the APRPD is less than 10 mm, it is still considered UTD P1. (Adapted from: Hiep T. Nguyen, Carol B. Benson, Bryann Bromley, Jeffrey B. Campbell, Jeanne Chow, Beverly Coleman, Christopher Cooper, Jude Crino, Kassa Darge, C.D. Anthony Herndon, Anthony O. Odibo, Michael J.G. Somers, Deborah R. Stein; Multidisciplinary consensus on the classification of prenatal and postnatal urinary tract dilation (UTD classification system); Pediatric Urology; December 2014 Volume 10, Issue 6, Pages 982-998)|NCI|N|
C4054283|The volume of oxygen consumed by the body per heartbeat while at rest.|NCI|N|
C4054287|A rare benign ovarian stromal tumor characterized by a stromal neoplasm with variable microcystic morphology, low mitotic activity, and diffuse nuclear beta-catenin and cyclin D1 immunoreactivity, while inhibin and calretinin are not expressed. Patients most commonly present with symptoms of a unilateral pelvic mass. Hormonal manifestations are usually absent. The tumor may be associated with familial adenomatous polyposis.|ORDO|N|
C4054313|The anatomic location of a surgically created ostomy.|NCI|N|
C4054314|Pain at the site of an ostomy.|NCI|N|
C4054315|An abnormal enlargement of an organ, particularly an organ of the abdominal cavity.|NCI|N|
C4054318|Hypo-attenuation of the metastases which may appear pseudocystic, perfectly homogeneous, and devoid of a recognizable peripheral rim.|NCI|N|
C4054324|A megaureter in which there is obstruction to the flow of urine at the ureterovesical junction.|NCI|N|
C4054325|Diffuse glomerular (greater than 50% of glomeruli) hypertrophy (greater than 250 micron diameter) that occurs in the context of obesity.|NCI|N|
C4054328|A measurement of the total number of birth events at which the gestational age of the neonate is less than 37 weeks and 0 days.|NCI|N|
C4054330|A measurement of the total number of birth events at which the gestational age of the neonate is 39 weeks and 0 days through 40 weeks and 6 days.|NCI|N|
C4054331|A measurement of the total number of birth events at which the gestational age of the neonate is 37 weeks and 0 days through 38 weeks and 6 days.|NCI|N|
C4054335|A value that specifies the relationship of a value to a normal range or reference range of values.|NCI|N|
C4054337|An electrocardiographic tracing demonstrating supraventricular tachycardia of less than thirty seconds duration. Different thresholds, for rate and/or duration, may apply to different patient populations.|NCI|N|
C4054339|A megaureter in which there is no obstruction at the ureterovesical junction and no vesicoureteral reflux.|NCI|N|
C4054340|A megaureter in which there is no obstruction at the ureterovesical junction.|NCI|N|
C4054343|The deviation of the existing water-tissue diffusion pattern from that of a perfect Gaussian curve, which is usually demonstrated via an image finding derived from a form of magnetic resonance imaging, known as diffusional kurtosis imaging.|NCI|N|
C4054344|A pituitary neuroendocrine tumor/macroadenoma not associated with a hormonal syndrome.|NCI|N|
C4054345|A leiomyosarcoma arising from an anatomic site other than skin.|NCI|N|
C4054348|Following a previous assessment of progressive disease unconfirmed (PDu) of non-target lesion(s), the subsequent required assessment does not confirm progressive disease.|NCI|N|
C4054349|A response indicating that an individual has or had no shortness of breath.|NCI|N|
C4054356|Deficiency or dysfunction of the type 2 receptor for neurotropic tyrosine kinase associated with loss-of-function mutation(s) in the NTKR2 gene.|NCI|N|
C4054360|Nephrotic syndrome in which proteinuria has decreased by at least 50% and below the nephrotic range cutoff from disease onset, but does not normalize following a defined course of treatment.|NCI|N|
C4054361|Nephrotic syndrome attributed to mutation(s) in the WT1 gene.|NCI|N|
C4054362|Nephrotic syndrome associated with a toxoplasmosis infection.|NCI|N|
C4054363|Nephrotic syndrome attributed to mutation(s) in the TRPC6 gene.|NCI|N|
C4054364|Nephrotic syndrome associated with a syphilis infection.|NCI|N|
C4054365|Nephrotic syndrome associated with a simian virus 40 infection.|NCI|N|
C4054366|Nephrotic syndrome attributed to mutation(s) in the SMARCAL1 gene.|NCI|N|
C4054367|Nephrotic syndrome attributed to mutation(s) in the SCARB2 gene.|NCI|N|
C4054368|Nephrotic syndrome characterized by recurrent proteinuria by dipstick of first morning urine: 2+ or greater for three days or longer, or the presence of edema with proteinuria of any duration following a remission.|NCI|N|
C4054369|Nephrotic syndrome associated with a parvovirus B19 infection.|NCI|N|
C4054370|Nephrotic syndrome attributed to mutation(s) in the PTPRO gene.|NCI|N|
C4054371|Nephrotic syndrome attributed to mutation(s) in the PLCE1 gene.|NCI|N|
C4054372|Nephrotic syndrome attributed to mutation(s) in the PDSS2 gene.|NCI|N|
C4054373|Nephrotic syndrome attributed to mutation(s) in the NPHS2 gene.|NCI|N|
C4054374|Nephrotic syndrome attributed to mutation(s) in the NEIL1 gene.|NCI|N|
C4054375|Nephrotic syndrome associated with malaria.|NCI|N|
C4054376|Nephrotic syndrome attributed to mutation(s) in the MYO1E gene.|NCI|N|
C4054377|Nephrotic syndrome attributed to mutation(s) in the MEFV gene.|NCI|N|
C4054378|Nephrotic syndrome attributed to mutation(s) in the LMX1B gene.|NCI|N|
C4054379|Nephrotic syndrome attributed to mutation(s) in the LAMB2 gene.|NCI|N|
C4054380|Nephrotic syndrome associated with an infectious process.|NCI|N|
C4054381|Nephrotic syndrome attributed to mutation(s) in the ITGB4 gene.|NCI|N|
C4054382|Nephrotic syndrome attributed to mutation(s) in the ITGA3 gene.|NCI|N|
C4054383|Nephrotic syndrome attributed to mutation(s) in the INF2 gene.|NCI|N|
C4054384|Nephrotic syndrome associated with human immunodeficiency virus infection.|NCI|N|
C4054385|Nephrotic syndrome associated with a hepatitis C infection.|NCI|N|
C4054386|Nephrotic syndrome associated with hepatitis B.|NCI|N|
C4054387|Nephrotic syndrome associated with Epstein-Barr infection.|NCI|N|
C4054388|Nephrotic syndrome attributed to mutation(s) in the EMP2 gene.|NCI|N|
C4054389|Nephrotic syndrome attributed to mutation(s) in the DGKE gene.|NCI|N|
C4054390|Nephrotic syndrome associated with a cytomegalovirus infection.|NCI|N|
C4054391|Nephrotic syndrome attributed to mutation(s) in the CUBN gene.|NCI|N|
C4054392|Nephrotic syndrome attributed to mutation(s) in the CRB2 gene.|NCI|N|
C4054393|Nephrotic syndrome attributed to mutation(s) in the COQ6 gene.|NCI|N|
C4054394|Nephrotic syndrome attributed to mutation(s) in the COQ2 gene.|NCI|N|
C4054395|Nephrotic syndrome attributed to mutation(s) in the CFH gene.|NCI|N|
C4054396|Nephrotic syndrome attributed to mutation(s) in the CD2AP gene.|NCI|N|
C4054397|Nephrotic syndrome attributed to mutation(s) in the ARHGDIA gene.|NCI|N|
C4054398|Nephrotic syndrome attributed to mutation(s) in the ARHGAP24 gene.|NCI|N|
C4054399|Nephrotic syndrome attributed to mutation(s) in the ANLN gene.|NCI|N|
C4054400|Nephrotic syndrome attributed to mutation(s) in the ADCK4 gene.|NCI|N|
C4054401|Nephrotic syndrome attributed to mutation(s) in the ACTN4 gene.|NCI|N|
C4054402|Kidney damage resulting from tacrolimus.|NCI|N|
C4054403|Kidney damage resulting from cisplatin.|NCI|N|
C4054404|Kidney damage resulting from ciclosporin.|NCI|N|
C4054405|Kidney damage resulting from analgesic drugs.|NCI|N|
C4054406|Kidney damage resulting from amphotericin.|NCI|N|
C4054407|Kidney damage resulting from aminoglycosides.|NCI|N|
C4054408|Nephropathy associated with rhabdomyolysis.|NCI|N|
C4054409|A benign or malignant lesion that occurs in the neonatal period.|NCI|N|
C4054418|A subgroup of complete response of multiple myeloma or plasma cell leukemia. It is characterized by less than 5% plasma cells in the bone marrow, unmeasurable serum and urine monoclonal proteins by electrophoresis, and positive serum and/or urine immunofixation.|NCI|N|
C4054426|A molecular abnormality indicating rearrangement of the NUP98 gene.|NCI|N|
C4054465|An evaluation of the morphologic response of the disease to the therapy.|NCI|N|
C4054466|The disappearance of all cells with morphologic characteristics of leukemia, accompanied by bone marrow recovery, in response to treatment. Hematologic recovery is not required. Leukemia free state can be a hypocellular marrow.|NCI|N|
C4054467|The disappearance of all signs of cancer, supported by morphological analysis.|NCI|N|
C4054468|The disappearance of all cells with morphologic characteristics of cancer, accompanied by incomplete bone marrow recovery, as evidenced by persistent anemia, thrombocytopenia or neutropenia.|NCI|N|
C4054476|Obesity associated with an identifiable mutation in a single gene.|NCI|N|
C4054479|An evaluation of the molecular response of the disease to the therapy.|NCI|N|
C4054481|A response indicating that an individual has or had moderate shortness of breath.|NCI|N|
C4054482|Birth at 32 to 36 completed weeks of gestation.|HPO|N|
C4054484|A morphologic finding indicating the presence of a mixture of embryonal and alveolar components in a rhabdomyosarcoma.|NCI|N|
C4054486|A minor decrease in signs of cancer, supported by pathological examination and based on pre-defined thresholds.|NCI|N|
C4054523|A response indicating that an individual has or had mild shortness of breath.|NCI|N|
C4054526|The rarest histopathologic subtype of Schwannoma. The reported cases have been located in the gastrointestinal submucosa or subcutaneous tissue. Morphologically it is characterized by the presence of a microcyst-rich network of spindle cells with minimal amount of cytoplasm and Antoni A tissue.|NCI|N|
C4054530|An evaluation of the metabolic response of the disease to the therapy.|NCI|N|
C4054531|Partial or complete dissolution of the mesangial matrix, identified by reduced staining on a periodic acid-Schiff (PAS) or silver stain.|HPO|N|
C4054533|A hamartoma characterized by the presence of collections of non-neoplastic arachnoidal cells.|NCI|N|
C4054534|A rare vascular malformation in the cerebral cortex and overlying leptomeninges. It can occur sporadically or in association with neurofibromatosis type 2.|NCI|N|
C4054536|Membranous nephropathy due to thrombospondin type-1 domain-containing protein 7A (THSD7A) antibodies.|NCI|N|
C4054537|Membranous nephropathy due to phospholipase 2 receptor (PLA2R) antibodies.|NCI|N|
C4054538|Membranous nephropathy due to neural endopeptidase (NEP) antibodies.|NCI|N|
C4054539|Membranous nephropathy in the context of malignancy.|NCI|N|
C4054540|Glomerulonephritis with electron dense deposits in the glomerular baseement membrane, associated with an infection known to cause membranous nephropath and after exclusion of alternative causes.|SNOMEDCT_US|N|
C4054541|Membranous nephropathy associated with exposure to a drug.|NCI|N|
C4054542|Membranous nephropathy associated with an autoimmune disorder.|NCI|N|
C4054543|A lupus nephritis subclass with global or segmental subepithelial immune deposits or their morphological sequelae by light microscopy and by immunofluorescence or electron microscopy, with or without mesangial alterations. May occur in combination with class III or IV, in which case both classes are diagnosed. May show advanced sclerosis|HPO|N|
C4054544|Glomerulonephritis similar in appearance under light microscopy to membranoproliferative glomerulonephritis (MPGN) I, but with subepithelial or transmembranous and subendothelial deposits on electron microscopy.|NCI|N|
C4054545|An abnormality in the biochemical pathway involving the melanocortins, a group of peptide hormones associated with anorexogenic signaling in the brain and hypothalamus.|NCI|N|
C4054546|Deficiency or dysfunction of the melanocortin 4 receptor, associated with loss-of-function mutation(s) in the MCFR4 gene.|NCI|N|
C4054547|A condition characterized by a large capacity, thin-walled bladder and megaureter(s).|NCI|N|
C4054549|An inherited form of cystic kidney disease that leads to fibrosis and impaired renal function as a result of defects in the MUC1 gene, which encodes mucin 1.|NCI|N|
C4054550|An inherited form of cystic kidney disease leading to fibrosis and impaired renal function that is caused by mutations in the UMOD gene, which encodes uromodulin/Tamm-Horsfall mucoprotein.|NCI|N|
C4054574|An electrocardiographic tracing demonstrating sinus bradycardia, with a heart rate lower than an acceptable, predetermined threshold. Different thresholds, for rate and/or duration, may apply to different patient populations.|NCI|N|
C4054575|A benign mesenchymal neoplasm characterized by the presence of spindle shaped myofibroblasts and mast cells in a collagenous stroma. It is histologically identical to the myofibroblastoma of breast. It usually arises from the subcutaneous tissue and the most common sites of involvement are the inguinal/groin, paratesticular, and vulvovaginal areas.|NCI|N|
C4054576|A giant cell tumor that arises from the bone and is characterized by the presence of a malignant cellular component.|NCI|N|
C4054577|A malignant myoepithelioma characterized by the presence of a minor ductal component.|NCI|N|
C4054578|Hypertensive nephropathy secondary to malignant hypertension.|NCI|N|
C4054579|A fibrohistiocytic neoplasm that metastasizes to other anatomic sites.|NCI|N|
C4054580|A major decrease in signs of cancer, supported by pathological examination and based on pre-defined thresholds.|NCI|N|
C4054588|An autoimmune condition affecting the posterior pituitary gland, which is characterized by lymphocytic infiltration, and which often presents as diabetes insipidus.|NCI|N|
C4054590|An exacerbation of the chronic disease lupus.|NCI|N|
C4054600|An undifferentiated high grade pleomorphic sarcoma of bone that occurs in childhood and has not spread to other anatomic sites.|NCI|N|
C4054601|An undifferentiated high grade pleomorphic sarcoma of bone that occurs in adulthood and has not spread to other anatomic sites.|NCI|N|
C4054602|Kidney damage resulting from lithium which may include distal or collecting tubular cysts, proteinuria, interstitial nephritis and nephrogenic diabetes insipidus.|NCI|N|
C4054651|Interstitial nephritis due to Leptospira, which may be associated with non-oliguric acute kidney injury.|NCI|N|
C4054654|A rare leiomyosarcoma that arises from the deep soft tissue in the retroperitoneum or abdominal cavity.|NCI|N|
C4054658|The minimum rate of positive pressure (systolic) change within the left ventricle during a unit time.|NCI|N|
C4054659|The maximum rate of positive pressure (systolic) change within the left ventricle during a unit time.|NCI|N|
C4054660|The maximum rate of negative pressure (diastolic) change within the left ventricle during a unit time.|NCI|N|
C4054663|Delivery of a dead fetus greater than 28 weeks gestational age and/or greater than 1,000 grams birth weight.|NCI|N|
C4054664|Clinical and/or laboratory evidence of late reemergence of a disorder after a period of remission.|NCI|N|
C4054665|Clinical and/or laboratory evidence of reemergence of acute myeloid leukemia greater than or equal to 12 months from diagnosis.|NCI|N|
C4054666|Clinical and/or laboratory evidence of reemergence of acute lymphoblastic leukemia greater than or equal to 18 months (extramedullary) or 36 months (marrow) from diagnosis.|NCI|N|
C4054667|Chromosomal breakage that generates 10 Mb or larger fragments. The quantification of these breaks can be used as a surrogate measure for genomic instability, which may be caused by mutation of DNA repair genes, including BRCA1 or BRCA2.|NCI|N|
C4054682|A pituitary neuroendocrine tumor that produces luteinizing hormone (LH).|NCI|N|
C4054691|A surgically created external opening into the jejunum.|NCI|N|
C4054694|An osteoma that develops on the surface of the bone.|NCI|N|
C4054695|Disease that is characterised clinically by neonatal hyperpigmentation, hypoglycaemia, failure to thrive, and recurrent infections and biochemically by glucocorticoid deficiency without mineralocorticoid deficiency. The disease usually presents in infancy or early childhood. Hypoglycaemic crises resulting in convulsions can lead to coma or death if untreated and recurrent hypoglycaemia may lead to neurological sequelae. Most cases are caused by defects in the adrenocorticotropin receptor, or its signalling pathway resulting in a failure of the cells of zona fasciculata in the adrenal cortex to respond appropriately to adrenocorticotrophic hormone, leading to a glucocorticoid deficiency. These defects are most commonly caused by mutations in MC2R (18p11.2) and MRAP (21q22.1). Other mutations reported include MCM4 (8q12-q13), NNT (5p12) and TXNRD2 (22q11.21). Inherited in an autosomal recessive manner.|SNOMEDCT_US|N|
C4054699|A morphologic finding indicating the presence of an invasive component of carcinoma cells that measures more than 5 mm in greatest dimension.|NCI|N|
C4054705|A soft tissue neoplasm of uncertain differentiation which is locally aggressive but rarely metastasizes.|NCI|N|
C4054706|A non-metastasizing, locally aggressive, bone-forming neoplasm.|NCI|N|
C4054707|A benign but locally aggressive giant cell tumor that arises from the bone.|NCI|N|
C4054708|A locally aggressive or rarely metastasizing cartilaginous matrix-producing neoplasm characterized by the presence of neoplastic chondrocytes.|NCI|N|
C4054709|A locally aggressive or rarely metastasizing neoplasm that arises from the bone.|NCI|N|
C4054716|Narrowing of the infundibulum to the calyx, which produces an impediment to urine flow.|NCI|N|
C4054724|An infiltrating lipoma that affects skeletal muscle. It has a higher rate of local recurrence.|NCI|N|
C4054725|A benign or malignant lesion that occurs in infancy.|NCI|N|
C4054726|An acute lymphoblastic or acute myeloid leukemia that occurs in infancy.|NCI|N|
C4054727|An acute lymphoblastic leukemia that occurs in infancy.|NCI|N|
C4054728|An acute lymphoblastic leukemia without rearrangement of the MLL (KMT2A) gene that occurs in infancy.|NCI|N|
C4054729|An acute lymphoblastic leukemia with rearrangement of the MLL (KMT2A) gene that occurs in infancy.|NCI|N|
C4054731|Death of the patient due to the toxic side effects of induction therapy.|NCI|N|
C4054734|Epispadias with urinary incontinence.|NCI|N|
C4054736|New onset nephrotic syndrome.|NCI|N|
C4054737|The disappearance of all signs of cancer, supported by the absence of phenotypically aberrant plasma cells (clonal) in bone marrow. (Rajkumar SV, Harousseau J, Durie B et al, Consensus recommendations for the uniform reporting of clinical trials: report of the International Myeloma Workshop Consensus Panel 1. Blood. 2011; 117(18):4691-4695)|NCI|N|
C4054742|A surgically created external opening into the ileum.|NCI|N|
C4054743|A condition characterized by deposition of IgM antibody in the glomerulus.|NCI|N|
C4054745|IgA nephropathy co-occurring with infectious disease.|NCI|N|
C4054747|Necrosis of the renal papillae, for which no underlying cause has been identified.|NCI|N|
C4054748|Obesity resulting from medical treatment or intervention.|NCI|N|
C4054752|Myelodysplastic syndrome characterized by decreased cellularity in the bone marrow.|NCI|N|
C4054753|A finding of both hypertrophy and karyomegaly in the same lesion.|NCI|N|
C4054754|A finding of both hypertrophy and hyperplasia in the same lesion.|NCI|N|
C4054755|A finding of both hyperplastic and metaplastic changes in a pathologic process.|NCI|N|
C4054756|Abnormally high level of lactate in the blood.|NCI|N|
C4054771|A continuous, ambulatory electrocardiographic recording during which one or more electrodes are disconnected, at least temporarily, resulting in one or more invalid ECG waveforms.|NCI|N|
C4054778|A congenital abnormality found in Fisher 344 rats characterized by grossly visible nodule(s) usually located on the median lobe of the liver.|NCI|N|
C4054790|An assessment of the diffusion capacity of the lungs for carbon monoxide adjusted for hemoglobin concentration.|NCI|N|
C4054791|The diffusion capacity of the lungs for carbon monoxide adjusted for the ratio of hemoglobin concentration to alveolar volume.|NCI|N|
C4054793|An evaluation of the hematologic response of the disease to the therapy.|NCI|N|
C4054794|An improvement of platelet count as a response to treatment.|NCI|N|
C4054795|An improvement in erythrocyte count as a response to treatment.|NCI|N|
C4054897|A term that refers to germinoma, seminoma, or dysgerminoma.|NCI|N|
C4054899|A finding of both germ cell depletion and germ cell degeneration.|NCI|N|
C4054900|Disturbance of cellular integrity and deterioration of germ cells.|NCI|N|
C4054911|A rhabdomyosarcoma characterized by the presence of chromosomal translocation t(1;13)(p36;q14) that results in PAX7-FOXO1 gene fusion; or translocation t(2;13)(q35;q14) that results in PAX3-FOXO1 gene fusion.|NCI|N|
C4054912|An alveolar rhabdomyosarcoma characterized by the presence of chromosomal translocation t(1;13)(p36;q14) that results in PAX7-FOXO1 gene fusion; or translocation t(2;13)(q35;q14) that results in PAX3-FOXO1 gene fusion. Approximately 80% of alveolar rhabdomyosarcomas are fusion-positive.|NCI|N|
C4054913|A rhabdomyosarcoma characterized by the absence of chromosomal translocation t(1;13)(p36;q14) or t(2;13)(q35;q14) and therefore the absence of PAX7-FOXO1 or PAX3-FOXO1 gene fusion.|NCI|N|
C4054914|An alveolar rhabdomyosarcoma characterized by the absence of chromosomal translocation t(1;13)(p36;q14) or t(2;13)(q35;q14) and therefore the absence of PAX7-FOXO1 or PAX3-FOXO1 gene fusion.|NCI|N|
C4054916|A pituitary neuroendocrine tumor/microadenoma associated with a hormonal syndrome.|NCI|N|
C4054917|A pituitary neuroendocrine tumor/macroadenoma associated with a hormonal syndrome.|NCI|N|
C4054925|An electrocardiographic tracing demonstrating frequent premature atrial contractions that exceed an acceptable, predetermined threshold. Different thresholds may apply to different patient populations.|NCI|N|
C4054935|A calculated ratio of the forced expiratory volume in one second to the largest observed expired volume during the first six seconds of a forced vital capacity (FVC) maneuver.|NCI|N|
C4054941|Reduced or absent function of the receptor for follicle stimulating hormone associated with a mutation in the FSHR gene.|NCI|N|
C4054943|A variant of FSGS characterized by scarring of the glomerulus adjacent to the origin of the proximal convoluted tubule; this occurs in the absence of collapsing and perihilar FSGS. (D''Agati VD, et al. ""Pathologic Classification of Focal Segmental Glomerulosclerosis: A Working Proposal."" Am J Kidney Dis 43.2 (2004): 368-82.)|NCI|N|
C4054944|A variant of FSGS characterized by scarring of the glomerulus where at least 50% of the scars are adjacent to the hilum and must have hyalinosis; this excludes cellular, tip and collapsing FSGS. (D''Agati VD, et al. ""Pathologic Classification of Focal Segmental Glomerulosclerosis: A Working Proposal."" Am J Kidney Dis 43.2 (2004): 368-82.)|NCI|N|
C4054945|A variant of FSGS characterized by glomerular tuft collapse, which may result in scarring. (D''Agati VD, et al. ""Pathologic Classification of Focal Segmental Glomerulosclerosis: A Working Proposal."" Am J Kidney Dis 43.2 (2004): 368-82.)|NCI|N|
C4054946|A variant of FSGS characterized by hypercellularity of the glomerulus; this excludes the tip and collapsing FSGS. (D''Agati VD, et al. ""Pathologic Classification of Focal Segmental Glomerulosclerosis: A Working Proposal."" Am J Kidney Dis 43.2 (2004): 368-82.)|NCI|N|
C4054953|The reemergence of a disorder as diagnosed by clinical and/or laboratory evidence following a single documented period of remission.|NCI|N|
C4054987|No new lesions(s) and a decrease in tumor size, or a reduction in central necrosis or attenuation in one or more enhancing lesions, based on pre-defined thresholds.|NCI|N|
C4055017|Early development of isosexual secondary characteristics in boys, due to autosomal dominant mutations in the LHCGR gene.|NCI|N|
C4055018|Hemolytic uremic syndrome associated with an inherited defect, but which is not associated with shiga toxin-producing enterobacteria.|NCI|N|
C4055021|A pituitary neuroendocrine tumor that produces follicle-stimulating hormone (FSH).|NCI|N|
C4055046|Birth when a fetus is less than 28 weeks gestational age.|NCI|N|
C4055047|A finding indicating the involvement of sites other than the bone marrow by a hematopoietic neoplasm.|NCI|N|
C4055054|A finding of both erosion and ulceration in the same lesion.|NCI|N|
C4055060|A surgically created external opening into the intestine.|NCI|N|
C4055062|A composite lung function endpoint that is composed of peak inspiratory and peak expiratory flows, expiration time, and relaxation time, is used to measure the occurrence and prolongation of apnea periods, and is scaled to inspiratory/expiratory strength to account for breathing variability.|NCI|N|
C4055065|The period of time between the end of inhalation and the active start of expiration.|NCI|N|
C4055066|The period of time between the end of exhalation and the active start of inspiration.|NCI|N|
C4055069|A response indicating that a person emotionally dislikes their extremity.|NCI|N|
C4055085|Delivery of a dead fetus greater than 22 weeks but less than 28 weeks gestational age, and/or whose birth weight is greater than 500 grams but less than 1,000 grams.|NCI|N|
C4055086|Clinical and/or laboratory evidence of early reemergence of a disorder after a period of remission.|NCI|N|
C4055087|Clinical and/or laboratory evidence of reemergence of acute lymphoblastic leukemia less than 18 months (extramedullary) or 36 months (marrow) from diagnosis.|NCI|N|
C4055102|Expression of fusion protein EWSR1-CREB1 resulting from a t(2;22)(q33;q12). It is present in the vast majority of angiomatoid fibrous histiocytoma cases.|NCI|N|
C4055108|Fecal constipation or impaction resulting in bowel and bladder dysfunction.|NCI|N|
C4055110|A surgically created external opening into the duodenum.|NCI|N|
C4055115|Thyroid peroxidase system defect due to presumed mutation(s) in the DUOX2 gene, resulting in decreased activity of dual oxidase 2.|NCI|N|
C4055116|A rare, progressive disorder characterized by abnormally high blood pressure in the pulmonary artery caused by obstruction and obliteration of the small pulmonary arteries due to drugs or toxins. The stimulant appetite suppressant aminorex fumarate and other stimulant anorectics such as the serotonin reuptake inhibitor dexfenfluramine, as well as other agents, including illegal substances have been reported as causative agents.|NCI|N|
C4055125|The loss of tension or continuity of sutures.|NCI|N|
C4055126|An enzyme deficiency in the androgen biosynthesis pathway, resulting in the underproduction of one or more androgens by the adrenal glands and/or gonads.|NCI|N|
C4055127|A catheter that has moved from its intended location.|NCI|N|
C4055129|A conversion from one disease diagnosis to another, which may be considered a progression to a worsening state.|NCI|N|
C4055140|The calculated ratio of the lung''s alveolar volume with respect to its diffusion capacity for carbon monoxide.|NCI|N|
C4055141|Glomerulonephritis characterized by endocapillary proliferation and the presence of inflammatory cells affecting 50% or more of all glomeruli.|NCI|N|
C4055150|A response indicating that an individual has not done something in the past 7 days.|NCI|N|
C4055156|Condition comprising congenital nephrotic syndrome with associated WT1 gene mutation with either intersex disorder or Wilms tumor.|NCI|N|
C4055157|A finding that generally has features of degeneration and regeneration.|NCI|N|
C4055158|A finding that generally has features of degeneration and atrophy.|NCI|N|
C4055159|An electrocardiographic tracing that is generated by cardioversion or defibrillation.|NCI|N|
C4055160|Circumscribed morphea in which the lesions are found in the deep dermis, panniculus, fascia, or superficial muscle.|NCI|N|
C4055161|The loss of elasticity of the bladder wall with increased urine volume.|NCI|N|
C4055166|Decreased activity of the nuclear receptor protein DAX1, caused by mutation(s) in the NR0B1 gene (on the X chromosome), resulting in adrenal hypoplasia congenita that may be associated with hypogonadotropic hypogonadism.|NCI|N|
C4055168|An evaluation of the cytogenetic response of the disease to the therapy.|NCI|N|
C4055169|A partial decrease in abnormal karyotype, based on pre-defined thresholds.|NCI|N|
C4055170|No change in abnormal karyotype, based on pre-defined thresholds.|NCI|N|
C4055171|A minor decrease in abnormal karyotype, based on pre-defined thresholds.|NCI|N|
C4055172|A minimal decrease in abnormal karyotype, based on pre-defined thresholds.|NCI|N|
C4055173|A surgically created external opening into the anterior wall of the bladder.|NCI|N|
C4055178|Cryoglobulinemia glomerulonephritis associated with chronic disease, often inflammatory conditions.|NCI|N|
C4055182|A common, usually encapsulated benign nerve sheath tumor composed of well-differentiated Schwann cells.|NCI|N|
C4055183|Kidney damage resulting from exposure to contrast agents.|NCI|N|
C4055185|Epispadias with urinary continence.|NCI|N|
C4055188|Neurogenic bladder, the cause of which is present at birth.|NCI|N|
C4055189|Nephrotic syndrome associated with syphilis, most commonly presenting in the first three months of life.|NCI|N|
C4055190|Nephrotic syndrome associated with toxoplasmosis, most commonly presenting in the first three months of life.|NCI|N|
C4055191|Nephrotic syndrome associated with rubella, most commonly presenting in the first three months of life.|NCI|N|
C4055192|Nephrotic syndrome presenting within the first three months of life, and which is associated with an infectious process.|NCI|N|
C4055193|Nephrotic syndrome within the first three months of life, characterized by scarring of the glomerulus, in which only part of the glomerulus is involved, and less than 50% of the glomeruli are affected.|NCI|N|
C4055194|Nephrotic syndrome associated with a cytomegalovirus infection, most commonly presenting in the first three months of life.|NCI|N|
C4055195|Thyroid stimulating hormone (TSH) deficiency associated with mutations(s) in the TSHB gene that encodes thyrotropin subunit beta.|NCI|N|
C4055204|A subjective score of 4 on a confidence scale that ranges from 1: Not at all confident to 7: Extremely confident.|NCI|N|
C4055212|The disappearance of all signs of cancer, based on CT scan and criteria-defined assessments.|NCI|N|
C4055221|Inflammation of the colon resulting from Clostridium Sordelli.|NCI|N|
C4055223|An evaluation of the clinical response of the disease to the therapy.|NCI|N|
C4055225|Any clinical change to a subject as determined by a non-invasive imaging procedure.|NCI|N|
C4055237|A spontaneous, age-related renal disease of rats, characterized by morphological changes such as degeneration of the epithelium lining of the tubules, thickening of glomerular, Bowman and proximal tubular basement membranes, and lesions in the glomeruli leading to mesangial overload and glomerulosclerosis.|NCI|N|
C4055242|A spindle cell rhabdomyosarcoma occurring in children.|NCI|N|
C4055243|A periosteal osteosarcoma occurring in childhood.|NCI|N|
C4055244|Lymphomatoid granulomatosis that occurs during childhood.|NCI|N|
C4055245|Langerhans cell histiocytosis that occurs during childhood and does not involve the bone marrow, spleen, liver, or lung.|NCI|N|
C4055246|Langerhans cell histiocytosis that occurs during childhood and involves the bone marrow, spleen, liver, or lung.|NCI|N|
C4055247|An extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue that occurs during childhood.|NCI|N|
C4055248|An acute myeloid leukemia that occurs in childhood and is characterized by the rearrangement of the NUP98 gene.|NCI|N|
C4055249|A rare acute myeloid leukemia that occurs in childhood and is characterized by deletion of chromosome 7.|NCI|N|
C4055250|A rare acute myeloid leukemia that occurs in childhood and is characterized primarily by deletions of 5q.|NCI|N|
C4055251|Acute myeloid leukemias that occur in childhood and do not fulfill the criteria for inclusion in the group of acute myeloid leukemias which have recurrent genetic abnormalities or myelodysplastic changes, or are therapy-related. This category includes entities classified according to the French-American-British classification scheme.|NCI|N|
C4055261|Kidney damage resulting from exposure to chemotherapeutic drugs.|NCI|N|
C4055264|An accumulation of cell fragments.|NCI|N|
C4055265|Inflammation associated with the use of a catheter.|NCI|N|
C4055278|Hemangiosarcoma occurring in a dog. It is an incurable tumor of vascular endothelial cells and occurs more commonly in dogs beyond middle age, and is especially common in certain breeds. Most hemangiosarcomas do not have a known cause.|NCI|N|
C4055340|The amount of cancer antigen 125 is reduced by 75% from protocol-defined baseline value(s).|NCI|N|
C4055341|The amount of cancer antigen 125 is reduced by 50% from protocol-defined baseline value(s).|NCI|N|
C4055342|One of the two forms of C3 glomerulopathy, dense deposit disease, can also be associated with other conditions unrelated to kidney function. For example, people with dense deposit disease may have acquired partial lipodystrophy, a condition characterized by a lack of fatty (adipose) tissue under the skin in the upper part of the body. Additionally, some people with dense deposit disease develop a buildup of yellowish deposits called drusen in the light-sensitive tissue at the back of the eye (the retina). These deposits usually appear in childhood or adolescence and can cause vision problems later in life.\n\nResearchers have identified two major forms of C3 glomerulopathy: dense deposit disease and C3 glomerulonephritis. Although the two disorders cause similar kidney problems, the features of dense deposit disease tend to appear earlier than those of C3 glomerulonephritis, usually in adolescence. However, the signs and symptoms of either disease may not begin until adulthood.\n\nThe kidney problems associated with C3 glomerulopathy tend to worsen over time. About half of affected individuals develop end-stage renal disease (ESRD) within 10 years after their diagnosis. ESRD is a life-threatening condition that prevents the kidneys from filtering fluids and waste products from the body effectively.\n\nC3 glomerulopathy is a group of related conditions that cause the kidneys to malfunction. The major features of  C3 glomerulopathy include high levels of protein in the urine (proteinuria), blood in the urine (hematuria), reduced amounts of urine, low levels of protein in the blood, and swelling in many areas of the body. Affected individuals may have particularly low levels of a protein called complement component 3 (or C3) in the blood.|MedlinePlus Genetics|N|
C4055343|Expression of a fusion protein that results from a t(11;16)(q13;p13) translocation, which involves the human genes ZFTA and MKL2.|NCI|N|
C4055350|Presumed deficiency of brain-derived neurotropic factor (BDNF), associated with loss-of-function mutation(s) in the BDNF gene.|NCI|N|
C4055371|A non-invasive serous neoplasm that arises from the ovary and shows micropapillary and/or cribriform architectural patterns. It is composed of round epithelial cells with scant cytoplasm and moderate nuclear atypia.|NCI|N|
C4055372|A group of lesions that affect the bone and have the appearance and cytogenetic or molecular characteristics of neoplasms but the clinical behavior is suggestive of a non-neoplastic process.|NCI|N|
C4055373|A finding indicating the involvement of the bone marrow and other anatomic sites, which may include the peripheral blood, lymph nodes, and/or extranodal sites, by a hematopoietic neoplasm.|NCI|N|
C4055374|A low-grade malignant blood vessel neoplasm arising from the bone. It is characterized by the presence of epithelioid endothelial cells. The neoplastic cells are arranged in cords and nests, which are embedded in a myxoid to hyalinized stroma.|NCI|N|
C4055377|Non-coordinated, reflexive contraction of the bladder and sphincter relaxation.|NCI|N|
C4055379|Kidney damage resulting from exposure to bisphosphonates.|NCI|N|
C4055395|A molecular abnormality indicating the presence of rearrangement mutations in either the BRCA1 gene at 17q21 or the BRCA2 gene at 13q12.3.|NCI|N|
C4055430|Abnormally large, misshapen and/or clumped vacuoles containing cell debris in the testis, or present in stages of spermatogenesis when not normally seen.|NCI|N|
C4055438|A condition in which a previously descended testicle permanently moves out of the scrotum.|NCI|N|
C4055452|Kidney damage resulting from exposure to antimicrobials.|NCI|N|
C4055463|Hydronephrosis that occurs in a fetus.|NCI|N|
C4055466|An angiosarcoma that arises from the soft tissues, usually in the deep muscles of the lower extremities, retroperitoneum, mediastinum, and mesentery.|NCI|N|
C4055470|A morphologic variant of embryonal rhabdomyosarcoma. It is characterized by the presence of large hyperchromatic and anaplastic cells.|NCI|N|
C4055477|Increase in eosinophilic cytoplasmic droplets of alpha 2u-globulin in the S2 segment of the proximal tubules in the cortex with exfoliation of cells, an increase in mitotic figures in affected portions of the proximal tubules, tubular basophilia in some cases, and formation of granular casts at the junction of the inner and outer stripes of the medulla. (INHAND)|NCI|N|
C4055482|The inhibition of normal respiration by physical obstruction(s) to the airway.|NCI|N|
C4055487|A benign mesenchymal neoplasm arising from skeletal muscle and occurring in adults.|NCI|N|
C4055488|A finding of dysplasia in the adnexal appendages.|NCI|N|
C4055493|An acute myeloid leukemia in infancy characterized by t(7;12)(q36;p13) and fusion of the homeobox gene HLXB9 (MNX1) with the ETV6 gene.|NCI|N|
C4055494|Acute myeloid leukemia with the variant RARA t(5;17)(q35;q21) and the expression of NPM1-RARA fusion protein.|NCI|N|
C4055495|An acute myeloid leukemia associated with t(3;3)(q21.3;q26.2) resulting in the reposition of a distal GATA2 enhancer to activate MECOM expression. It may present de novo or follow a myelodysplastic syndrome. The clinical course is aggressive.|NCI|N|
C4055496|Acute myeloid leukemia with the variant RARA t(17;17)(q21;q21) and the expression of STAT5B-RARA fusion protein.|NCI|N|
C4055497|Unique gene expression-based patient cluster groups in high-risk B-precursor acute lymphoblastic leukemia determined by Recognition of Outliers by Sampling Ends (ROSE).|NCI|N|
C4055498|Gene expression-based patient cluster groups in acute lymphoblastic leukemia.|NCI|N|
C4055500|A benign fibroblastic neoplasm that arises from acral sites, usually the periungual area of the digits. It is characterized by the proliferation of spindled and stellate-shaped fibroblasts in the dermis in a myxoid or collagenous stroma. Nuclear atypia is usually minimal. It usually presents as a solitary and slow-growing dome-shaped mass on a digit. The recurrence rate is low.|NCI|N|
C4055501|Neurogenic bladder, the cause of which is not present at birth.|NCI|N|
C4055502|Hypogonadotropic hypogonadism, the cause of which is not present from birth.|NCI|N|
C4055503|An infection with the Cytomegalovirus that is not present from birth.|NCI|N|
C4055504|Central hypothyroidism, the cause of which is not present at birth.|NCI|N|
C4055505|Adrenocorticotropic hormone (ACTH) deficiency, the cause of which is not present at birth.|NCI|N|
C4055506|A state characterized by the gradual increase in entities or substances.|NCI|N|
C4055508|A supernumerary tissue in addition to normal tissues.|NCI|N|
C4055510|The absence of change in the overall attenuation of the metastasis and in the peripheral rim, suggesting a lack of response to treatment.|NCI|N|
C4055511|The lack of any bowel movements.|NCI|N|
C4055622|Antenatal hydronephrosis with the following clinical findings: 1) an anterior-posterior renal pelvis diameter (APRPD) of greater than or equal to 7mm at less than 28 weeks, 2) greater than or equal to10 mm at greater than or equal to 28 weeks, or 3) any one of the following findings: a)dilation of peripheral calyces, b) abnormal parenchymal thickness or appearance, c) visibly dilated ureter, d) an abnormal bladder, or e) the presence of oligohydramnios suspected to be related to the urinary tract. (Adapted from: Hiep T. Nguyen, Carol B. Benson, Bryann Bromley, Jeffrey B. Campbell, Jeanne Chow, Beverly Coleman, Christopher Cooper, Jude Crino, Kassa Darge, C.D. Anthony Herndon, Anthony O. Odibo, Michael J.G. Somers, Deborah R. Stein; Multidisciplinary consensus on the classification of prenatal and postnatal urinary tract dilation (UTD classification system); Pediatric Urology; December 2014 Volume 10, Issue 6, Pages 982-998)|NCI|N|
C4055623|Antenatal hydronephrosis with the following clinical findings: 1) an anterior-posterior renal pelvis diameter (APRPD) of 4 to less than 7 mm at less than 28 weeks, 2) to less than10 mm at greater than or equal to 28 weeks, and 3) may have central calyceal dilation. (Adapted from: Hiep T. Nguyen, Carol B. Benson, Bryann Bromley, Jeffrey B. Campbell, Jeanne Chow, Beverly Coleman, Christopher Cooper, Jude Crino, Kassa Darge, C.D. Anthony Herndon, Anthony O. Odibo, Michael J.G. Somers, Deborah R. Stein; Multidisciplinary consensus on the classification of prenatal and postnatal urinary tract dilation (UTD classification system); Pediatric Urology; December 2014 Volume 10, Issue 6, Pages 982-998)|NCI|N|
C4062457|Cardiac stroke volume index is the the volume of blood ejected per beat divided by body surface area, hence units of measurement are ml/m square - (cardiac) stroke volume index is therefore a more precise individual measurement.|SNOMEDCT_US|N|
C4062502|The functional state of the body or body systems.|NCI|N|
C4063051|The characteristics of a person or community that affect their capacity to anticipate, confront, repair, and recover from the effects of a natural or human-caused disaster.(https://www.ncbi.nlm.nih.gov/pmc/articles/PMC71 79070/)|MSH|N|
C4064341|A type of abnormal interest characterized by a persistent and intense focus on parts of a toy/object. For example, affected individuals may spin the wheels on a toy car rather than drive the toy car.|HPO|N|
C4064943|Production of sound done without will or conscious control. Involuntary vocalizations include tics, stereotypies vocalizations as part of dystonia or chorea, continuous vocalizing behaviors such as groaning or grunting, pathological laughter and crying, and others.|HPO|N|
C4065471|A condition in which a child is chronically irritable and experiences frequent, severe temper outbursts that seem grossly out of proportion to the situation.|SNOMEDCT_US|N|
C4067209|The reemergence of acute biphenotypic leukemia after a period of remission.|NCI|N|
C4068344|A molecular abnormality indicating rearrangement of the RARA gene.|NCI|N|
C4068350|A molecular abnormality indicating rearrangement of the ALK gene.|NCI|N|
C4068423|A molecular abnormality indicating rearrangement of the immunoglobulin heavy (IGH) gene locus.|NCI|N|
C4068826|A heart murmur that has an auditory quality in which the flow sounds highly turbulent.|NCI|N|
C4068836|Loosely hanging without visible support.|NCI|N|
C4068931|A type of strabismus in which the visual axis of one eye is lower than that of the other.|HPO|N|
C4068932|A type of strabismus in which the visual axis of one eye is higher than that of the other.|HPO|N|
C4072828|Severe loss of visual acuity within hours or days. This is characteristic of Leber hereditary optic neuropathy.|HPO|N|
C4072868|Chorioretinal atrophy along the retinal veins.|HPO|N|
C4072882|The presence of an abnormally large pelvis.|HPO|N|
C4072884|A coloboma of the ciliary body.|HPO|N|
C4072885|An elevated circulating testosterone level in the blood.|HPO|N|
C4072886|An anomaly of the circulating level of a gonadotropin, that is, of a protein hormone secreted by gonadotrope cells of the anterior pituitary of vertebrates. The primary gonadotropins are luteinizing hormone (LH) and follicle-stimulating hormone (FSH).|HPO|N|
C4072887|A reduction of the circulating level of a gonadotropin, that is, of a protein hormone secreted by gonadotrope cells of the anterior pituitary of vertebrates. The primary gonadotropins are luteinizing hormone (LH) and follicle-stimulating hormone (FSH).|HPO|N|
C4072889|A reduction of the circulating level of follicle-stimulating hormone (FSH).|HPO|N|
C4072890|A reduction in the circulating level of luteinizing hormone (LH).|HPO|N|
C4072891|An anomaly of the circulating level of follicle-stimulating hormone (FSH).|HPO|N|
C4072892|An anomaly in the blood concentration of an androgen, that is, of a steroid hormone that controls development and maintenance of masculine characteristics. The androgens include testosterone and Dehydroepiandrosterone.|HPO|N|
C4072893|An elevation of the blood concentration of an androgen, that is, of a steroid hormone that controls development and maintenance of masculine characteristics. The androgens include testosterone and Dehydroepiandrosterone.|HPO|N|
C4072894|A reduction in the blood concentration of an androgen, that is, of a steroid hormone that controls development and maintenance of masculine characteristics. The androgens include testosterone and Dehydroepiandrosterone.|HPO|N|
C4072895|A well-circumscribed, intensely pruritic, raised wheal (edema of the superficial skin) typically 1 to 2 cm in diameter.|HPO|N|
C4072896|An anomalous level of insulin-like growth factor 1 (IGF1) in the blood circulation.|HPO|N|
C4072897|A reduced level of insulin-like growth factor 1 (IGF1) in the blood circulation.|HPO|N|
C4072899|Abnormal levels of interferon gamma measured in the blood circulation.|HPO|N|
C4072900|An elevation in the concentration of interferon gamma measured in the blood circulation.|HPO|N|
C4072901|Any deviation from the normal concentration in the blood circulation of an icosanoid (also known as eicosanoids). These are signaling molecules derived from oxidation of 20-carbon fatty acids. Most are produced from arachidonic acid, a 20-carbon polyunsaturated fatty acid (5,8,11,14-eicosatetraenoic acid).|HPO|N|
C4072902|A reduction in the level of carnitine in muscle tissue.|HPO|N|
C4072903|Delivery by Caesarian section representing the first time the mother has delivered by Caesarian section.|HPO|N|
C4072904|Delivery by Caesarian section representing where the mother has already had a previous Cesarean delivery, and this is a repeat Cesarean birth.|HPO|N|
C4072905|The Odon device is an instrument for assisted vaginal deliveries that is applied on the head of the baby and used to apply traction to assist the birth process.|HPO|N|
C4072906|Hyperphalangy is a digit morphology in which increased numbers of phalanges are arranged linearly within a digit. That is, there is an accessory phalanx that is arranged linearly with the other phalanges.|HPO|N|
C4072907|An accessory phalanx of the index (second) finger that is arranged linearly with the other phalanges. Hyperphalangy of the index finger results from an accessory ossification center at the metacarpophalangeal joint, resulting in radial deviation of the index finger. Note that this term refers only to this type of hyperphalangy.|HPO|N|
C4072908|Vaginal delivery following induction of labor, a procedure used to stimulate uterine contractions during pregnancy before labor begins on its own.|HPO|N|
C4072909|A deviation in the normal proportion of naive B cells (CD19+/CD27-/IgD+/IgM+) relative to the total number of B cells. Naive B cells represent one of the subtypes of B cells in the peripheral blood, and are B cells that have not been exposed to antigen.|HPO|N|
C4072910|An elevation above the normal proportion of naive B cells (CD19+/CD27-/IgD+/IgM+) relative to total number of B cells. Naive B cells represent one of the subtypes of B cells in the peripheral blood, and are B cells that have not been exposed to antigen.|HPO|N|
C4072911|A reduction below normal proportion of naive B cells (CD19+/CD27-/IgD+/IgM+) relative to total number of B cells. Naive B cells represent one of the subtypes of B cells in the peripheral blood, and are B cells that have not been exposed to antigen.|HPO|N|
C4072912|A deviation of the normal proportion of memory B cells in circulation relative to total number of B cells. Memory B cells develop from naive B cells. Upon antigen rechallenge, memory B cells rapidly expand and differentiate into plasma cells under the cognate control of memory Th cells (Phase IV).|HPO|N|
C4072913|A reduction in the normal proportion of memory B cells (CD19+/CD27+) in circulation relative to the total number of B cells. Memory B cells develop from naive B cells. Upon antigen rechallenge, memory B cells rapidly expand and differentiate into plasma cells under the cognate control of memory Th cells (Phase IV).|HPO|N|
C4072914|An elevation in the proportion of memory B cells (CD19+/CD27+) in circulation relative to the total number of B cells. Memory B cells develop from naive B cells. Upon antigen rechallenge, memory B cells rapidly expand and differentiate into plasma cells under the cognate control of memory Th cells (Phase IV).|HPO|N|
C4072915|A deviation from normal proportion of immature B cells (CD19+/ CD21low) in circulation relative to total number of B cells. Immature B cells (IgM+) are still in final stages of development within the bone marrow. Naive B cells are those which have left the bone marrow, before they bind to the antigen for which they're specific (IgM+/IgD+).|HPO|N|
C4072916|An elevation in the proportion above normal of immature B cells (CD19+/ CD21low) in circulation relative to total number of B cells. Immature B cells (IgM+) are still in final stages of development within the bone marrow. Naive B cells are those which have left the bone marrow, before they bind to the antigen for which they're specific (IgM+/IgD+).|HPO|N|
C4072917|A reduction in normal proportion of immature B cells (CD19+/ CD21low)in circulation relative to total number of B cells. Immature B cells (IgM+) are still in final stages of development within the bone marrow. Naive B cells are those which have left the bone marrow, before they bind to the antigen for which they're specific (IgM+/IgD+).|HPO|N|
C4072918|A deviation in the normal proportion of transitional B cells (CD19+/CD38high/IgMhigh) in circulation relative to the total number of B cells. B cells originate from precursors in the bone marrow, and the first cells which migrate to the peripheral blood have been classified as transitional B cells.|HPO|N|
C4072919|A reduction in the normal proportion of transitional B cells (CD19+/CD38high/IgMhigh) in circulation relative to the total number of B cells. B cells originate from precursors in the bone marrow, and the first cells which migrate to the peripheral blood have been classified as transitional B cells.|HPO|N|
C4072920|An elevation in the normal proportion of transitional B cells (CD19+/CD38high/IgMhigh) in circulation relative to the total number of B cells. B cells originate from precursors in the bone marrow, and the first cells which migrate to the peripheral blood have been classified as transitional B cells.|HPO|N|
C4072921|A deviation of the normal proportion of marginal zone B cells (CD19+/CD27+/IgM+/IgD+) in circulation relative to the total number of B cells.|HPO|N|
C4072922|A reduction in the normal proportion of marginal zone B cells (CD19+/CD27+/IgM+/IgD+) in circulation relative to the total number of B cells.|HPO|N|
C4072923|An elevation in the normal proportion of marginal zone B cells (CD19+/CD27+/IgM+/IgD+) in circulation relative to the total number of B cells.|HPO|N|
C4072924|A deviation of the normal proportion of class-switched memory B cells (CD19+/CD27+/IgM-/IgD-) in circulation relative to the total number of B cells. Marginal zone B cells undergo limited somatic hypermutation and produce high-affinity IgM and some IgG, whereas class-switched memory B cells synthetize IgG, IgM, and IgA.|HPO|N|
C4072925|A reduction in the normal proportion of class-switched memory B cells (CD19+/CD27+/IgM+/IgD+) relative to the total number of B cells. Marginal zone B cells undergo limited somatic hypermutation and produce high-affinity IgM and some IgG, whereas class-switched memory B cells synthetize IgG, IgM, and IgA.|HPO|N|
C4072928|Reduced ability of lexical discrimination, which refers to the process of distinguishing a stimulus word from other phonologically similar words. Lexical discrimination can be defined as the process of correctly identifying words in the mental lexicon to match the phonological input of a stimulus.|HPO|N|
C4072929|Platelets are replete with secretory granules, which are critical to normal platelet function. Among the three types of platelet secretory granules - alpha-granules, dense granules, and lysosomes - the alpha-granule is the most abundant. Granule contents must be released from their intracellular repository in order to achieve their physiologic function, and this term refers to a functional defect in granule secretion.|HPO|N|
C4072930|Abnormal release of dense granules from platelets.|HPO|N|
C4072931|Abnormal secretion of the platelet dense-granule content adenosine triphosphate (ATP).|HPO|N|
C4072932|Abnormal release of alpha granule contents from platelets.|HPO|N|
C4072933|Abnormal release of lysosome contents from platelets.|HPO|N|
C4072934|Deviation from normal of the ratio of adenosine triphosphate (ATP) to adenosine diphosphate (ADP) within platelets.|HPO|N|
C4072935|A malignant epithelial tumor with a glandular organization that originates in the jejunum.|HPO|N|
C4072936|A malignant epithelial tumor with a glandular organization that originates in the ileum.|HPO|N|
C4072937|A low-grade variant of squamous cell carcinoma of the tongue with a warty (verrucous) appearance.|HPO|N|
C4072939|A cyst of the ovary that exhibits deposition of calcium salts.|HPO|N|
C4072940|A benign central bone tumor of the jaw composed of fibrous connective tissue within which bone is formed.|HPO|N|
C4072941|A melanoma that originates in the anal margin.|HPO|N|
C4072944|A type of mesenteric cyst that is lined with a thin endothelium or mesothelium and filled with chylous and lymphatic fluid.|HPO|N|
C4072955|No detectable response to the light-adapted 3.0 ERG (single-flash cone response). This type of ERG measures responses of the cone system; a-waves arise from cone photoreceptors and cone off-bipolar cells; the b-wave comes from On- and Off-cone bipolar cells.|HPO|N|
C4072957|An anomalous response to a pattern electroretinogram (PERG), a particular kind of ERG obtained in response to contrast modulation of patterned visual stimuli at constant mean luminance-typically contrast-reversing gratings or checkerboards-whose characteristics are fundamentally different from those of the traditional ERG in response to diffuse flashes of light.|HPO|N|
C4072973|An abnormal reduction in the amplitude of the a-wave.|HPO|N|
C4072981|An anomaly of the pigmentation in the fovea centralis.|HPO|N|
C4072982|Small, red dots in the superficial retinal layers (it is difficult to distinguish between small hemorrhages and microaneurysms).|HPO|N|
C4072983|Any structural anomaly of the blood vessels of the macula.|HPO|N|
C4072985|Fluffy white patch on the macula, representing localized areas of dense white swelling of the retinal nerve fiber layer. They often have a zigzag internal structure, a feathered edge but an otherwise well-delineated form and an approximately 1 mm dimension; they project slightly into the vitreous and sometimes deflect retinal vessels.|HPO|N|
C4072986|Abnormal increase in retinal thickness in the macular area observed on fundoscopy or fundus imaging.|HPO|N|
C4072988|Crystalline deposits in the macula.|HPO|N|
C4072990|Clumped pigmentary changes of nummular appearance (i.e., thought to resemble the shape of a coin or multiple coins stuck together) at the level of the retinal pigment epithelium.|HPO|N|
C4072992|Crystalline deposits in the retina.|HPO|N|
C4072999|A diminution of the peripheral visual field whereby at least 50 degrees of central field are preserved in all meridians.|HPO|N|
C4073004|Peripheral visual field constriction with <10 degrees central field preserved.|HPO|N|
C4073073|Fundus autofluorescence (FAF) is a non-invasive retinal imaging modality used in clinical practice to provide a density map of lipofuscin, the predominant ocular fluorophore, in the retinal pigment epithelium. Autofluorescent patterns result from the complex interaction of fluorophores such a lipofuscin, which release an autofluorescent signal, and elements such as melanin and rhodopsin, which absorb the excitation beam and attenuate autofluorescence. Other structures such as retinal vessels and the crystalline lens may also influence autofluorescence through blocking and interference.|HPO|N|
C4073074|An abnormality observed by retinal fluorescein angiography, which involves the intravenous injection of fluorescein dye followed by fluorescent imaging of the fundus immediately after injection and for up to ten minutes thereafter. It can be used to study various retinal abnormalities including especially anomalies of the choroidal and retinal circulation.|HPO|N|
C4073079|Loss of the outer nuclear layer (photoreceptor layer) as assessed by ocular coherence tomography.|HPO|N|
C4073101|Increased amount of autofluorescence in the macula as ascertained by fundus autofluorescence imaging.|HPO|N|
C4073102|Decreased amount of autofluorescence in the macula as ascertained by fundus autofluorescence imaging.|HPO|N|
C4073113|Vitreous haze is the obscuration of fundus details by vitreous cells and protein exudation.|HPO|N|
C4073114|Any cystic lesion associated with the umbilical cord.|HPO|N|
C4073115|Focal dilation of the umbilical vein.|HPO|N|
C4073116|Branching of the umbilical cord before its insertion into the placenta.|HPO|N|
C4073117|The presence of inflammatory cells such as lymphocytes and macrophages in the vitreous.|HPO|N|
C4073118|Vestigial vitreous gel occupying the immediate retrolental space and minimal to no discernable gel in the central vitreous cavity, giving the appearance of an empty vitreous cavity.|HPO|N|
C4073119|A cyst that is localized in the region of the orbit and exhibits an epithelial lining with a keratin-filled lumen. Hair follicles are one of the adnexal structures that are commonly found in walls of dermoid cysts.|HPO|N|
C4073120|A structural anomaly of the adjacent structures (i.e., adnexa) of the eye, defined as the lacrimal apparatus, the extraocular muscles and the eyelids, eyelashes, eyebrows and the conjunctiva.|HPO|N|
C4073121|A hamartoma (disordered proliferation of mature tissues) which can originate from any tissue of the orbital region.|HPO|N|
C4073122|Any anomaly of the ring of fibrous tissue that surrounds the optic nerve at its entrance at the apex of the orbit. The common tendinous ring, also known as the annulus of Zinn or annular tendon, is the origin for five of the seven extraocular muscles.|HPO|N|
C4073123|Chronic loss of joint motion of the proximal interphalangeal joint of the 2nd, 3rd, 4th, and 5th fingers due to structural changes in non-bony tissue.|HPO|N|
C4073124|A congenital auricular deformity, which is mainly characterized by a bulging appearance of the anterosuperior portion of the auricle, a convexly protruded cavum conchae, and a slit-like narrowing of the orifice of the external auditory meatus.|HPO|N|
C4073125|A hypopigmented spot in the shape of a leaf from the mountain ash tree.|HPO|N|
C4073126|A deviation from the normal circulating concentration of adiponectin, a 30-kDa complement C1-related protein that is the most abundant secreted protein expressed in adipose tissue, and that plays a crucial role in the regulation of insulin sensitivity and glucose metabolism.|HPO|N|
C4073127|A reduced circulating concentration of adiponectin, a 30-kDa complement C1-related protein that is the most abundant secreted protein expressed in adipose tissue.|HPO|N|
C4073128|An elevated circulating concentration of adiponectin, a 30-kDa complement C1-related protein that is the most abundant secreted protein expressed in adipose tissue.|HPO|N|
C4073129|A deviation from the normal concentration of glucagon in the blood circulation.|HPO|N|
C4073130|A condition in which both eyes beat outward simultaneously.|HPO|N|
C4073141|Any deviation from the normal concentration of a phospholipid in the blood circulation.|HPO|N|
C4073148|The inability to maintain postures or positions (such as keeping eyes closed, protruding the tongue, maintaining conjugate gaze steadily in a fixed direction, or making a prolonged 'ah' sound) without repeated prompts.|HPO|N|
C4073149|A subset of motor impersistence, defined as the inability to perform more than two of the simple voluntary acts simultaneously, such as closing the eyes and protruding the tongue.|HPO|N|
C4073150|Recurrent abnormal consumption of food, liquids, or objects that could have negative consequences for the individual.|HPO|N|
C4073151|Abnormal concentration of neopterin in the cerebrospinal fluid (CSF).|HPO|N|
C4073152|Increased concentration of neopterin in the cerebrospinal fluid (CSF).|HPO|N|
C4073153|Decreased concentration of neopterin in the cerebrospinal fluid (CSF).|HPO|N|
C4073154|Any deviation from the normal concentration of neopterin in the blood circulation.|HPO|N|
C4073155|Abnormal concentration of biopterin in the cerebrospinal fluid (CSF).|HPO|N|
C4073156|Concentration of biopterin in the cerebrospinal fluid (CSF) above the upper limit of normal.|HPO|N|
C4073157|Concentration of biopterin in the cerebrospinal fluid (CSF) below the lower limit of normal.|HPO|N|
C4073158|A deviation from the normal concentration of biopterin in the blood circulation.|HPO|N|
C4073159|An abnormality of the skin of the palm, that is, the skin of the front of the hand.|HPO|N|
C4073160|An abnormal concentration of insulin in the body.|HPO|N|
C4073162|An increased concentration of hemoglobin A1c (HbA1c), which is the product of nonenzymatic attachment of a hexose molecule to the N-terminal amino acid of the hemoglobin molecule. This reaction is dependent on blood glucose concentration, and therefore reflects the mean glucose concentration over the previous 8 to 12 weeks. The HbA1c level provides a better indication of long-term glycemic control than one-time blood or urinary glucose measurements.|HPO|N|
C4073163|Lack of natural killer cells, a type of lymphocyte in the innate immune system that contains cytoplasmic granzymes, i.e., small granules with perforin and proteases that allow natural killer cells to form pores in the cell membrane of the target cell through which the granzymes and associated molecules can enter, inducing apoptosis.|HPO|N|
C4073168|A deviation from the normal serum concentration/activity of lactate dehydrogenase (LDH), which catalyzes the reduction of pyruvate to form lactate.|HPO|N|
C4073169|Concentration of the complement component C4 in the blood circulation below the lower limit of normal.|HPO|N|
C4073171|Concentration of acylcarnitine in the blood circulation above the upper limit of normal.|HPO|N|
C4073172|An elevated concentration in the blood of hemoglobin A2 (HbA2), which is a normal variant of hemoglobin A that consists of two alpha and two delta chains and is normally present at low levels in adults but may be increased in beta thalassemia.|HPO|N|
C4073173|An abnormal amount of oxygen passes into the blood from the lungs and/or an abnormal amount of carbon dioxide passes from the blood into the lungs.|HPO|N|
C4073174|Increased ability of the lungs to transfer gas from inspired air to the bloodstream as measured by the diffusing capacity of the lungs for carbon monoxide (DLCO) test.|HPO|N|
C4073175|Reduced ability of the lungs to transfer gas from inspired air to the bloodstream as measured by the diffusing capacity of the lungs for carbon monoxide (DLCO) test.|HPO|N|
C4073176|Any abnormality of the brachial nerve plexus.|HPO|N|
C4073177|Any abnormality of the lumbosacral nerve plexus.|HPO|N|
C4073178|An abnormal appearance of hair under polarizing microscopy (using crossed polarizers), whereby hair shafts show striking alternating bright and dark bands, often referred to as tiger tail banding.|HPO|N|
C4073180|An anomaly of the size of the testicle (the male gonad).|HPO|N|
C4073184|Increased density of hairs, i.e., and elevated number of hairs per unit area.|HPO|N|
C4073185|Abnormality of the first branch of the internal carotid artery.|HPO|N|
C4073187|Any abnormality of the part of the nervous system that consists of the nerves and ganglia outside of the brain and spinal cord.|HPO|N|
C4073188|Any abnormality of the part of the peripheral nervous system associated with sensation and skeletal muscle voluntary control of body movements.|HPO|N|
C4073189|Any abnormality of the somatic nerve plexus.|HPO|N|
C4073190|Any abnormality of the masticatory muscle.|HPO|N|
C4073191|Any abnormality of the mouth floor.|HPO|N|
C4073192|Any abnormality of the submandibular region, the region between the mandible and the hyoid bone contains the submandibular and sublingual glands, suprahyoid muscles, submandibular ganglion, and lingual artery.|HPO|N|
C4073193|An abnormality of nerve cell cluster or a group of nerve cell bodies located in the autonomic nervous system.|HPO|N|
C4073194|An abnormality of nerve cell cluster or a group of nerve cell bodies located in the peripheral autonomic nervous system.|HPO|N|
C4073195|An abnormality of nerve cell cluster or a group of nerve cell bodies located in the autonomic nervous system of the cranium.|HPO|N|
C4073196|An abnormality of one or more of the five muscles of the soft palate.|HPO|N|
C4073197|An abnormality of any of the muscles of the pharynx.|HPO|N|
C4073198|An abnormality of the tensor veli palatini muscle|HPO|N|
C4073199|An abnormality of the uvular muscle|HPO|N|
C4073200|An abnormality of the muscles of the structure of the nose.|HPO|N|
C4073201|An abnormality of any of the muscles of facial expression, which are innervated by the seventh (VII) cranial nerve and control facial expression.|HPO|N|
C4073202|An abnormality of the levator labii superioris alaeque nasi muscle.|HPO|N|
C4073203|An abnormality of the common carotid arteries, which provide the arterial supply to the head and neck and give rise to the internal carotid artery and the external carotid artery.|HPO|N|
C4073204|An abnormality of the sphenoid sinus, one of the mucosa-lined, normally air-filled paranasal sinuses of the bones of the skull. The sphenoid sinus is located within the sphenoid bone.|HPO|N|
C4073205|An abnormality of the maxillary sinus, one of the mucosa-lined, normally air-filled paranasal sinuses of the bones of the skull. The maxillary sinus is located within the skeleton of the midface, lateral to the nasal cavity.|HPO|N|
C4073206|An abnormality of an external jugular vein of the neck.|HPO|N|
C4073207|Two-sided or bilateral weakness of the muscles of facial expression and eye closure.|HPO|N|
C4073210|An abnormality of the premaxilla (the embryonic structure that forms the anterior part of the maxilla) causing it to appear relatively large in size compared to the other parts of the maxilla or other facial structures.|HPO|N|
C4073211|Any structural anomaly of an inner ear epithelium.|HPO|N|
C4073212|An abnormality of a mandibular ramus.|HPO|N|
C4073213|Abnormal function of the frontalis muscle, which covers parts of the forehead and is responsible for raising the eyebrows.|HPO|N|
C4073214|An abnormality of a masseter muscle.|HPO|N|
C4073215|An abnormality of a medial pterygoid muscle.|HPO|N|
C4073216|An abnormality of a mentalis muscle.|HPO|N|
C4073217|An abnormality of a mylohyoid muscle.|HPO|N|
C4073218|An abnormality of a nasalis muscle.|HPO|N|
C4073219|An abnormality of an orbicularis oris muscle.|HPO|N|
C4073220|An abnormality of a palatoglossus muscle.|HPO|N|
C4073221|An abnormality of a palatopharyngeus muscle.|HPO|N|
C4073222|An abnormality of the platysma muscle.|HPO|N|
C4073223|An abnormality of a procerus.|HPO|N|
C4073224|An abnormality of a risorius muscle.|HPO|N|
C4073225|An abnormality of the styloglossus muscle.|HPO|N|
C4073226|An abnormality of a temporalis muscle.|HPO|N|
C4073227|An abnormality of a zygomaticus major muscle.|HPO|N|
C4073228|An abnormality of a buccal mucosa.|HPO|N|
C4073229|An abnormality of a zygomaticus minor muscle.|HPO|N|
C4073230|An abnormality of a buccal fat pad.|HPO|N|
C4073231|An abnormality of a cartilage of external ear.|HPO|N|
C4073232|An abnormality of the angular artery, the terminal branch of the facial artery.|HPO|N|
C4073233|Any structural abnormality of a facial artery, one of the branches of the external carotid artery.|HPO|N|
C4073234|An abnormality of a ciliary ganglion.|HPO|N|
C4073236|An abnormality of a buccinator muscle.|HPO|N|
C4073237|An abnormality of a depressor anguli oris muscle.|HPO|N|
C4073238|An abnormality of a depressor labii inferioris.|HPO|N|
C4073239|An abnormality of an orbit of skull.|HPO|N|
C4073240|An abnormality of a central retinal artery.|HPO|N|
C4073241|Any abnormality of nasopharyngeal adenoids.|HPO|N|
C4073242|An abnormality of a cartilage of nasal septum.|HPO|N|
C4073243|Abnormality of the plexus of the ventral rami of the first four cervical spinal nerves which are located from C1 to C4 cervical segment in the neck.|HPO|N|
C4073244|An abnormality of a blood vessel of the head, including branches of the arterial and venous systems of the head.|HPO|N|
C4073245|An abnormality of a blood vessel of the neck, including branches of the arterial and venous systems of the neck.|HPO|N|
C4073246|Any structural abnormality of a cricoid cartilage, that is, of the ring-shaped cartilage of the larynx.|HPO|N|
C4073247|An abnormality of a dorsal nasal artery.|HPO|N|
C4073248|An abnormality of an ethmoid sinus.|HPO|N|
C4073249|An abnormality of an external carotid artery.|HPO|N|
C4073250|Any structural abnormality of a jugular vein.|HPO|N|
C4073251|An abnormality of a facial vein.|HPO|N|
C4073252|An abnormality of a frontal process of the maxilla bone.|HPO|N|
C4073253|An abnormality of a genioglossus muscle.|HPO|N|
C4073255|Any structural anomaly of the glossopharyngeal nerve, the ninth paired cranial nerve (CN IX).|HPO|N|
C4073256|Any structural anomaly of a great auricular nerve.|HPO|N|
C4073257|An abnormality of a greater palatine artery.|HPO|N|
C4073258|An abnormality of an odontoid tissue.|HPO|N|
C4073259|An abnormality of a hyoglossus muscle.|HPO|N|
C4073260|Any structural abnormality of the hyoid bone (hyoid), a small U-shaped (horseshoe-shaped) solitary bone, situated in the midline of the neck anteriorly at the base of the mandible and posteriorly at the fourth cervical vertebra.|HPO|N|
C4073261|A structural anomaly of the hypopharyx, which is the most inferior portion of the pharynx. The hypopharynx continues from the oropharynx at the pharyngoepiglottic fold superiorly and extends inferiorly to the level of the inferior aspect of the cricoid cartilage, which marks the beginning of the cervical esophagus.|HPO|N|
C4073263|An abnormality of an inferior alveolar nerve.|HPO|N|
C4073264|An abnormality of an artery of lower lip.|HPO|N|
C4073265|An abnormality of an inferior oblique extraocular muscle.|HPO|N|
C4073266|An abnormality of an inferior rectus extraocular muscle.|HPO|N|
C4073267|An abnormality of an inferior thyroid vein.|HPO|N|
C4073268|An abnormality of an infraorbital artery.|HPO|N|
C4073269|A structural abnormality of an infra-orbital nerve. The infraorbital nerve arises from the maxillary branch of the trigeminal nerve and normally traverses the orbital floor in the infraorbital canal.|HPO|N|
C4073270|An abnormality of an internal jugular vein.|HPO|N|
C4073271|An abnormality of an intrinsic muscle of tongue.|HPO|N|
C4073272|An abnormality of a lacrimal artery.|HPO|N|
C4073273|An abnormality of a lacrimal sac.|HPO|N|
C4073274|Any structural abnormality of a lateral crico-arytenoid muscle, which extends from the lateral cricoid cartilage to the muscular process of the arytenoid cartilage, and can adduct the vocal cords, which closes the rima glottidis and thereby protects the airway.|HPO|N|
C4073275|An abnormality of a lateral pterygoid muscle.|HPO|N|
C4073276|An abnormality of a lateral rectus extra-ocular muscle.|HPO|N|
C4073277|An abnormality of a levator anguli oris.|HPO|N|
C4073278|An abnormality of a levator labii superioris.|HPO|N|
C4073279|An abnormality of a levator palpebrae superioris.|HPO|N|
C4073280|An abnormality of a levator veli palatini.|HPO|N|
C4073281|Any structural abnormality of a lingual artery.|HPO|N|
C4073282|Any structural anomaly of a lingual nerve.|HPO|N|
C4073283|An abnormality of a lingual tonsil.|HPO|N|
C4073284|An abnormality of a mandible condylar process.|HPO|N|
C4073285|An abnormality of a mandible coronoid process.|HPO|N|
C4073286|A structural abnormality of a mandibular symphysis.|HPO|N|
C4073287|An abnormality of an anterior ethmoidal artery.|HPO|N|
C4073288|An increase in the normal proportion of class-switched memory B cells (CD19+/CD27+/IgM+/IgD+) relative to the total number of B cells. Marginal zone B cells undergo limited somatic hypermutation and produce high-affinity IgM and some IgG, whereas class-switched memory B cells synthetize IgG, IgM, and IgA.|HPO|N|
C4073289|Any structural anomaly of the muscular columns which project from the inner surface of the right and left ventricles of the heart (cardiac trabeculae, trabeculae carneae).|HPO|N|
C4074771|Complete inability to conceive or induce conception.|MSH|N|
C4075259|Potential for inadequate physiological activity of the urinary system to excrete fluids and waste and maintain blood pressure and fluid and electrolyte balance.|PNDS|N|
C4075260|Gingival redness and swelling.|SNOMEDCT_US|N|
C4075286|Potential for physical harm, damage to skin and soft tissue, eyes, reproductive system and circulatory system and loss of hair sustained from ionizing radiation.|PNDS|N|
C4075311|Gingivitis involving less than 30% of the gingiva.|SNOMEDCT_US|N|
C4075412|Inflammation characterized by gingival redness and swelling with bleeding on probing (provocation).|SNOMEDCT_US|N|
C4075490|Potential for inadequate physiological activity of the gastrointestinal tract and organs causing discomfort or interference with the breaking down of food for absorption and elimination of wastes.|PNDS|N|
C4075501|Sexual activity has occurred in the six months prior to the current time.|SNOMEDCT_US|N|
C4075508|Sexual activity has occurred in the month prior to the current time.|SNOMEDCT_US|N|
C4075516|Sexual activity has occurred in the year prior to the current time.|SNOMEDCT_US|N|
C4075524|Gingivitis involving the entire mouth or more than 30 percent of the surfaces.|SNOMEDCT_US|N|
C4075530|Failure of neuromuscular block reversal agents to antagonise a neuro muscular blocking drug.|SNOMEDCT_US|N|
C4075565|Partial or complete paralysis of the trigeminal nerve.|NCI|N|
C4075603|Chronic hepatitis B with negative hepatitis B surface antigen and low level viral replication but positive hepatitis B virus deoxyribonucleic acid test.|SNOMEDCT_US|N|
C4075633|Local contributing factors include improperly contoured restorations, missing or worn restorations, or gingival architecture that is unusual and allows for accumulation of food debris.|SNOMEDCT_US|N|
C4075715|A form of sexual abuse where the child is sexually exploited for money, power or status.|SNOMEDCT_US|N|
C4075794|A new narcotic or psychotropic drug that is not controlled by the United Nations drug conventions, but which may pose a public health threat comparable to that posed by substances listed in these conventions.|SNOMEDCT_US|N|
C4075851|An autoimmune hepatitis that is characterized by primary biliary cirrhosis clinical, biochemical, and histologic characteristics with antinuclear antibody positive sera.|MONDO|N|
C4076023|History of high blood pressure and protein in urine during pregnancy.|SNOMEDCT_US|N|
C4076097|A circadian sleep disorder that occurs when work schedules force people to be awake when their circadian rhythms dictate that they should be sleeping. It is classified as a Circadian Rhythm Disorder (CRD) and is extrinsic, i.e. caused by external behavioral factors.|MONDO|N|
C4076164|Inability to evacuate bowels properly, characterised by difficulty passing motions and a sensation of blockage or incomplete emptying.|SNOMEDCT_US|N|
C4076165|A rare ophthalmic disorder characterized by idiopathic orbital inflammation in which the specific target tissue is the optic nerve sheath. Patients typically present with ocular pain, pain on eye movement, visual symptoms with loss of vision progressing over several weeks, dyschromatopsia, and variable visual field defects. Orbital signs and symptoms may be present and include ptosis, ophthalmoplegia, and exophthalmos. Optic disc edema is observed in most cases. The condition is usually unilateral.|ORDO|N|
C4076240|Decalcification of bone or abnormal bone development due to chronic KIDNEY DISEASES, in which 1,25-DIHYDROXYVITAMIN D3 synthesis by the kidneys is impaired, leading to reduced negative feedback on PARATHYROID HORMONE. The resulting SECONDARY HYPERPARATHYROIDISM eventually leads to bone disorders.|MSH|N|
C4076472|Person has been witness to an adult misusing substances.|SNOMEDCT_US|N|
C4076485|Person has been witness to an adult misusing alcohol.|SNOMEDCT_US|N|
C4076686|A systolic blood pressure >=150 mm Hg or diastolic blood pressure >=90 mm Hg while lying down.|SNOMEDCT_US|N|
C4076726|Clusters of enlarged lymph nodes which are small, often hard and usually of no clinical concern. They have a similar feel to buckshot or pellets.|SNOMEDCT_US|N|
C4081841|Ileal neuroendocrine tumor is a rare, primary, malignant, epithelial neoplasm of the small intestine arising from enterochromaffin cells in the ileum (usually the terminal ileum). Clinical behavior depends on the histologic grade, but initially it is generally characterized by vague abdominal symptoms (cramping, bloating, diarrhea) with insidious onset, although sometimes it could present with signs of bowel obstruction/perforation or gastrointestinal bleeding. Diagnosis in advanced stages with regional or distant spread is common, but signs of carcinoid syndrome (flushing, sweating, diarrhea) are usually not apparent until hepatic metastasis has occurred.|ORPHANET|N|
C4082144|A condition in which the anterior part of the foot rotates outward away from the midline of the body and the heel remains straight.|HPO|N|
C4082167|An auto inflammatory syndrome with characteristics of recurrent febrile episodes associated with aphthous stomatitis, pharyngitis and cervical adenitis. Usually presents during early childhood with recurrent episodes of fever during which children appear very ill. Aphthous stomatitis presents with relatively painless small, round and shallow lesions on the tongue and oral mucosa that recover completely in 10-14 days. Most patients present with tonsillitis, occasionally with white exudates and a general pharyngitis. Episodes recur every 3-5 weeks, often in a predictable fashion with patients describing a mild malaise the day before recurrence. An idiopathic inflammatory condition.|SNOMEDCT_US|N|
C4082168|A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the thumb. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones.|HPO|N|
C4082169|The metatarsals are deviated medially (tibially), that is, the bones in the front half of the foot bend or turn in toward the body.|HPO|N|
C4082171|Carbamoyl phosphate synthetase I deficiency is an autosomal recessive inborn error of metabolism of the urea cycle which causes hyperammonemia. There are 2 main forms: a lethal neonatal type and a less severe, delayed-onset type (summary by Klaus et al., 2009).
Urea cycle disorders are characterized by the triad of hyperammonemia, encephalopathy, and respiratory alkalosis. Five disorders involving different defects in the biosynthesis of the enzymes of the urea cycle have been described: ornithine transcarbamylase deficiency (311250), carbamyl phosphate synthetase deficiency, argininosuccinate synthetase deficiency, or citrullinemia (215700), argininosuccinate lyase deficiency (207900), and arginase deficiency (207800).|OMIM|N|
C4082172|A cavity within the cerebral hemisphere, filled with cerebrospinal fluid, that communicates directly with the ventricular system.|HPO|N|
C4082173|A rare, genetic or acquired, cerebral malformation characterized by an intracerebral fluid-filled cyst or cavity with or without communication between the ventricle and subarachnoid space. Clinical manifestations depend on location and severity and may include hemiparesis, seizures, intellectual disability, and dystonia.|ORDO|N|
C4082174|A type of central congenital hypothyroidism, a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones due to a deficiency in TSH synthesis.|ORPHANET|N|
C4082185|A benign fluid filled simple cyst of bone filled with serous fluid.|HPO|N|
C4082197|Charcot-Marie-Tooth disease type 4 (CMT4) belongs to the genetically heterogeneous group of CMT peripheral sensorimotor polyneuropathy diseases. Type 4 is less common and often limited to certain ethnic groups. Patients present with the typical CMT phenotype along with typical features of progressive, distally accentuated weakness and atrophy of muscles innervated by the peroneal nerve in the lower limbs, followed by weakness and atrophy of hands, sensory loss, and characteristic foot abnormalities.|SNOMEDCT_US|N|
C4082199|A transient reduction in the number of erythroblasts in the circulation.|HPO|N|
C4082299|Bulbar weakness (or bulbar palsy) refers to bilateral impairment of function of the lower cranial nerves IX, X, XI and XII, which occurs due to lower motor neuron lesion either at nuclear or fascicular level in the medulla or from bilateral lesions of the lower cranial nerves outside the brain-stem. Bulbar weakness is often associated with difficulty in chewing, weakness of the facial muscles, dysarthria, palatal weakness and regurgitation of fluids, dysphagia, and dysphonia.|HPO|N|
C4082304|The absence of six or more teeth from the normal series by a failure to develop.|HPO|N|
C4082761|Any abnormality of bones of the arms or legs.|HPO|N|
C4082764|invasion and growth of microorganisms in the gastrointestinal system; may be clinically inapparent or result in local cellular injury.|CSP|N|
C4082769|A degenerative brain disease linked to a history of repetitive head impacts such as those experienced in contact and collision sports or combat military service.|SNOMEDCT_US|N|
C4082793|A syndrome of intellectual disability/multiple congenital malformations that is caused by the total or partial duplication of the short arm of chromosome 10. Around 50 cases have been described in the literature. The anomalies are present at birth. Children are usually dolichocephalic with a high and prominent forehead, contrasting with a small face. Osteoarticular anomalies are frequent, including ligament hyperlaxity, flexion deformations of limbs, and club feet. Cardiac, renal, ocular and bone malformations have been reported. The majority of cases are a result of the malsegregation of a familial balanced translocation. The most frequent break point is located at the level of p11 band, but it can be more distal and result in partial trisomy.|SNOMEDCT_US|N|
C4082794|Deletion of a part of the short arm of chromosome X (Xp22) associated with short stature, chondrodysplasia punctata, ichthyosis, mental deficiency, and elements of Kallmann syndrome (a disorder of hypothalamic function and reduced pituitary gonadotropic activity with resulting hypogonadism and agenesis or hypoplasia of the olfactory bulb with olfactory disorders).|JABL|N|
C4082832|An electrocardiographic finding of an ectopic impulse originating in the atria and not specifically in the sinus node. The P wave morphology of these complexes is often different from a sinus P wave and the RR intervals preceding these complexes is also shorter than those of the regular beats. (CDISC)|NCI|N|
C4082928|Formation of a blood clot (thrombus) in the lumen of a mesenteric vein or mesenteric artery.|NCI|N|
C4082933|Hypersensitivity in form of an adverse immune reaction against animal proteins.|HPO|N|
C4082937|A fulminating disease of neonates in which there is extensive mucosal ulceration, pseudomembrane formation, submucosal hemorrhage, and necrosis usually of the right colon, cecum, terminal ileum, and appendix, possibly due to perinatal intestinal ischemia and bacterial invasion. Progression can lead to necrosis, perforation and/or scarring of the intestinal tract.|NCI|N|
C4082951|Progressive spinal muscular atrophy, i.e., muscular weakness and atrophy related to loss of the motor neurons of the spinal cord and brainstem.|HPO|N|
C4082952|Lack of development of one lung.|HPO|N|
C4082954|Underdevelopment or reduced size of the heart right ventricle, often due to a reduced number of cells.|HPO|N|
C4083008|Guillain-Barre syndrome (GBS) is an acute inflammatory demyelinating polyneuropathy characterized most commonly by symmetric limb weakness and loss of tendon reflexes. It is a putative autoimmune disorder presenting after an infectious illness, most commonly Campylobacter jejuni, a gram-negative bacterium that causes acute enteritis (Yuki and Tsujino, 1995; Koga et al., 2005). Approximately 1 in 1,000 individuals develops GBS after C. jejuni infection (Nachamkin, 2001).
Although rare familial cases have been reported, GBS is considered to be a complex multifactorial disorder with both genetic and environmental factors rather than a disorder following simple mendelian inheritance (Geleijns et al., 2004).|OMIM|N|
C4083045|Parkinson's disease is a progressive disorder of the nervous system. The disorder affects several regions of the brain, especially an area called the substantia nigra that controls balance and movement.\n\nOften the first symptom of Parkinson's disease is trembling or shaking (tremor) of a limb, especially when the body is at rest. Typically, the tremor begins on one side of the body, usually in one hand. Tremors can also affect the arms, legs, feet, and face. Other characteristic symptoms of Parkinson's disease include rigidity or stiffness of the limbs and torso, slow movement (bradykinesia) or an inability to move (akinesia), and impaired balance and coordination (postural instability). These symptoms worsen slowly over time.\n\nParkinson's disease can also affect emotions and thinking ability (cognition). Some affected individuals develop psychiatric conditions such as depression and visual hallucinations. People with Parkinson's disease also have an increased risk of developing dementia, which is a decline in intellectual functions including judgment and memory.\n\nGenerally, Parkinson's disease that begins after age 50 is called late-onset disease. The condition is described as early-onset disease if signs and symptoms begin before age 50. Early-onset cases that begin before age 20 are sometimes referred to as juvenile-onset Parkinson's disease.|MedlinePlus Genetics|N|
C4083048|Spondylocostal dysostosis (SCDO), defined radiographically as multiple segmentation defects of the vertebrae (M-SDV) in combination with abnormalities of the ribs, is characterized clinically by: a short trunk in proportion to height; short neck; non-progressive mild scoliosis in most affected individuals, and occasionally, more significant scoliosis. Respiratory function in neonates may be compromised by reduced size of the thorax. By age two years lung growth may improve sufficiently to support relatively normal growth and development; however, even then life-threatening complications can occur, especially pulmonary hypertension in children with severely restricted lung capacity from birth. Males with SCDO appear to be at increased risk for inguinal hernia.|GeneReviews|N|
C4083056|A basal cell carcinoma of the skin that often appears as elevated nodules which may become ulcerated.|MONDO|N|
C4083072|An electrocardiographic finding of an acute myocardial infarction which produces characteristic elevations of the ST segment of the ECG.|NCI|N|
C4083076|An abnormally increased head circumference in a growing child. Head circumference is measured with a nonelastic tape and comprises the distance from above the eyebrows and ears and around the back of the head. The measured HC is then plotted on an appropriate growth chart.|HPO|N|
C4083256|A sausage shape with cracks in the surface; normal stool.|NCI|N|
C4083296|Reactive astrocytic proliferation often associated with degenerative, inflammatory or neoplastic changes in the central nervous system.|NCI|N|
C4084708|Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the CRYM gene.|MONDO|N|
C4084709|Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MET gene.|MONDO|N|
C4084712|DFNA67 is a form of nonsyndromic sensorineural hearing loss. Onset ranges from the first to the fourth year of life. Hearing loss initially affects high frequencies, with variable progression. There are no vestibular symptoms (Xing et al., 2015; Thoenes et al., 2015).|OMIM|N|
C4084795|A blood concentration of prostate specific antigen below 5 ng/mL.|NCI|N|
C4084821|Charcot-Marie-Tooth disease type 2U (CMT2U) is an autosomal dominant neurologic disorder characterized by late-adult onset of distal sensory impairment resulting in distal muscle weakness and atrophy affecting the upper and lower limbs. The disorder is slowly progressive (summary by Gonzalez et al., 2013).
For a phenotypic description and a discussion of genetic heterogeneity of axonal CMT, see CMT2A1 (118210).|OMIM|N|
C4084822|Classic Joubert syndrome (JS) is characterized by three primary findings: A distinctive cerebellar and brain stem malformation called the molar tooth sign (MTS). Hypotonia. Developmental delays. Often these findings are accompanied by episodic tachypnea or apnea and/or atypical eye movements. In general, the breathing abnormalities improve with age, truncal ataxia develops over time, and acquisition of gross motor milestones is delayed. Cognitive abilities are variable, ranging from severe intellectual disability to normal. Additional findings can include retinal dystrophy, renal disease, ocular colobomas, occipital encephalocele, hepatic fibrosis, polydactyly, oral hamartomas, and endocrine abnormalities. Both intra- and interfamilial variation are seen.|GeneReviews|N|
C4084840|Fanconi anemia (FA) is characterized by physical abnormalities, bone marrow failure, and increased risk for malignancy. Physical abnormalities, present in approximately 75% of affected individuals, include one or more of the following: short stature, abnormal skin pigmentation, skeletal malformations of the upper and/or lower limbs, microcephaly, and ophthalmic and genitourinary tract anomalies. Progressive bone marrow failure with pancytopenia typically presents in the first decade, often initially with thrombocytopenia or leukopenia. The incidence of acute myeloid leukemia is 13% by age 50 years. Solid tumors – particularly of the head and neck, skin, and genitourinary tract – are more common in individuals with FA.|GeneReviews|N|
C4084841|Classic Joubert syndrome (JS) is characterized by three primary findings: A distinctive cerebellar and brain stem malformation called the molar tooth sign (MTS). Hypotonia. Developmental delays. Often these findings are accompanied by episodic tachypnea or apnea and/or atypical eye movements. In general, the breathing abnormalities improve with age, truncal ataxia develops over time, and acquisition of gross motor milestones is delayed. Cognitive abilities are variable, ranging from severe intellectual disability to normal. Additional findings can include retinal dystrophy, renal disease, ocular colobomas, occipital encephalocele, hepatic fibrosis, polydactyly, oral hamartomas, and endocrine abnormalities. Both intra- and interfamilial variation are seen.|GeneReviews|N|
C4084842|Classic Joubert syndrome (JS) is characterized by three primary findings: A distinctive cerebellar and brain stem malformation called the molar tooth sign (MTS). Hypotonia. Developmental delays. Often these findings are accompanied by episodic tachypnea or apnea and/or atypical eye movements. In general, the breathing abnormalities improve with age, truncal ataxia develops over time, and acquisition of gross motor milestones is delayed. Cognitive abilities are variable, ranging from severe intellectual disability to normal. Additional findings can include retinal dystrophy, renal disease, ocular colobomas, occipital encephalocele, hepatic fibrosis, polydactyly, oral hamartomas, and endocrine abnormalities. Both intra- and interfamilial variation are seen.|GeneReviews|N|
C4084843|Classic Joubert syndrome (JS) is characterized by three primary findings: A distinctive cerebellar and brain stem malformation called the molar tooth sign (MTS). Hypotonia. Developmental delays. Often these findings are accompanied by episodic tachypnea or apnea and/or atypical eye movements. In general, the breathing abnormalities improve with age, truncal ataxia develops over time, and acquisition of gross motor milestones is delayed. Cognitive abilities are variable, ranging from severe intellectual disability to normal. Additional findings can include retinal dystrophy, renal disease, ocular colobomas, occipital encephalocele, hepatic fibrosis, polydactyly, oral hamartomas, and endocrine abnormalities. Both intra- and interfamilial variation are seen.|GeneReviews|N|
C4084859|Radiological appearance of increased density around the walls of a bronchus or large bronchiole. This feature is thought to be related to edema involving the bronchial wall as well as the peribronchial interstitial space. If the cross section of a bronchus is captured in a radiograph or computed tomography image, it is said to have the appearance of a donut because of the central lucency representing the airway of the bronchus surrounded by a circular region of increased density.|HPO|N|
C4084883|The abnormal formation of bone or bony substance.|NCI|N|
C4084914|A response indicating that an individual expects to, or is expected to, live less than twenty years.|NCI|N|
C4085185|Mushy pieces with ragged edges.|NCI|N|
C4085196|An indication that something is growing at an intermediate rate.|NCI|N|
C4085199|A type of exocardia in which the heart develops outside of the body.|NCI|N|
C4085229|A non-specified abnormality; an abnormality that is not included in a specified grouping of abnormalities.|NCI|N|
C4085243|Male EBP disorder with neurologic defects (MEND) is an X-linked recessive disorder representing a continuous phenotypic spectrum with variable manifestations associated with a defect in sterol biosynthesis. Features include intellectual disability, short stature, scoliosis, digital abnormalities, cataracts, and dermatologic abnormalities. Not all patients show all features, and the severity is highly variable. Molecular studies indicate that affected males are hemizygous for a nonmosaic hypomorphic EBP allele. Carrier females are generally clinically asymptomatic, but may show biochemical abnormalities (summary by Arnold et al., 2012 and Barboza-Cerda et al., 2014).|OMIM|N|
C4085248|Osteofibrous dysplasia (OSFD) is a tumor-like bone lesion that usually presents as a painless swelling or anterior bowing of the tibia (Park et al., 1993), although pain may occur in up to 25% of cases and presentation may follow pathologic fracture. Most reports of osteofibrous dysplasia describe isolated tibial lesions, although a significant subgroup describe isolated and ipsilateral fibular involvement. Cases with ulnar and radial involvement have been reported (summary by Hunter and Jarvis, 2002).
OSFD is characterized by radiolucent lesions located at the periosteal surface of the diaphyseal cortex, almost exclusively of the tibia and fibula. These lesions are congenital and spontaneously resolve during skeletal maturation; the residuum is most commonly mild bowing at the affected site. Prior to their resolution, secondary complications such as nonunion fractures and pseudoarthrosis formation can occur. Histologically, OSFD lesions exhibit 'zonal architecture' characterized by spindle-shaped fibroblast-like cells in the center of the lesions that are progressively replaced with peripherally located, more differentiated cells from the osteoblastic lineage. The cells lying at the center of the lesions stain for markers of undifferentiated mesenchymal cell states, whereas bridging zones of osteoid with surface osteoblasts and embedded osteocytic cells are interspersed between the lesions. In OSFD, the unossified zones eventually mineralize after replacement with normal osteoid and, finally, bone. This histologic progression corresponds with the clinical and radiographic resolution of the lesions (summary by Gray et al., 2015).
Hunter and Jarvis (2002) noted that there may be a relationship between osteofibrous dysplasia and adamantinoma of long bones (102660), although the latter condition usually presents at a later age.|OMIM|N|
C4085249|Optic atrophy-8 (OPA8) is an autosomal dominant neurologic disorder characterized by progressive visual loss during the first or second decade of life. Some patients may have additional features, mainly late-onset sensorineural hearing loss.
For a discussion of genetic heterogeneity of optic atrophy, see OPA1 (165500).|OMIM|N|
C4085250|Paget disease of bone-6 is an autosomal dominant disorder characterized by adult onset of bone pain associated with polyostotic bone lesions primarily affecting the axial skeleton. A subset of patients can develop coronary artery disease and/or malignant giant cell tumor (GCT) of the bone, which arises within the Paget bone lesions (summary by Divisato et al., 2016).
For a general phenotypic description and a discussion of genetic heterogeneity of Paget disease of bone, see 167250.|OMIM|N|
C4085251|Paget disease is a metabolic bone disease characterized by focal abnormalities of increased bone turnover affecting one or more sites throughout the skeleton, primarily the axial skeleton. Bone lesions in this disorder show evidence of increased osteoclastic bone resorption and disorganized bone structure. See reviews by Ralston et al. (2008) and Ralston and Albagha (2014).
For a discussion of genetic heterogeneity of Paget disease of bone, see 167250.|OMIM|N|
C4085252|Paget disease is a metabolic bone disease characterized by focal abnormalities of increased bone turnover affecting one or more sites throughout the skeleton, primarily the axial skeleton. Bone lesions in this disorder show evidence of increased osteoclastic bone resorption and disorganized bone structure. See reviews by Ralston et al. (2008) and Ralston and Albagha (2014).
Genetic Heterogeneity of Paget Disease of Bone
Also see PDB2 (602080), caused by mutation in the TNFRSF11A gene (603499) on chromosome 18q21; PDB4 (606263), mapped to chromosome 5q31; PDB5 (239000), caused by mutation in the TNFRSF11B gene (602643) on chromosome 8q24; and PDB6 (616833), caused by mutation in the ZNF687 gene (610568) on chromosome 1q21.
Suggestive linkage of a form of PDB to chromosome 6p (PDB1) was reported by Fotino et al. (1977); however, further studies did not confirm linkage to this site (Moore and Hoffman, 1988; Nance et al., 2000; Good et al., 2001).|OMIM|N|
C4085325|A finding that indicates an anatomic structure is partially or completely turned inside out.|NCI|N|
C4085370|A superficial fibromatosis arising from the soft tissue of the palm. It is characterized by the presence of spindle-shaped fibroblasts, and an infiltrative growth pattern. It predominantly affects adult males.|MONDO|N|
C4085555|A subjective answer of the highest degree of agreement.|NCI|N|
C4085556|A response indicating that an individual is in extreme agreement with something.|NCI|N|
C4085564|A congenital anatomic defect characterised by a facial cleft that extends from the mouth to the orbit of the eye.|NCI|N|
C4085582|An inherited condition caused by mutation(s) in the DDX3X gene, encoding ATP-dependent RNA helicase DDX3X. It is characterized by severe intellectual disability and variable neurologic features.|NCI|N|
C4085590|The first signs and symptoms of cone-rod dystrophy, which often occur in childhood, are usually decreased sharpness of vision (visual acuity) and increased sensitivity to light (photophobia). These features are typically followed by impaired color vision (dyschromatopsia), blind spots (scotomas) in the center of the visual field, and partial side (peripheral) vision loss. Over time, affected individuals develop night blindness and a worsening of their peripheral vision, which can limit independent mobility. Decreasing visual acuity makes reading increasingly difficult and most affected individuals are legally blind by mid-adulthood. As the condition progresses, individuals may develop involuntary eye movements (nystagmus).\n\nThere are more than 30 types of cone-rod dystrophy, which are distinguished by their genetic cause and their pattern of inheritance: autosomal recessive, autosomal dominant, and X-linked. Additionally, cone-rod dystrophy can occur alone without any other signs and symptoms or it can occur as part of a syndrome that affects multiple parts of the body.\n\nCone-rod dystrophy is a group of related eye disorders that causes vision loss, which becomes more severe over time. These disorders affect the retina, which is the layer of light-sensitive tissue at the back of the eye. In people with cone-rod dystrophy, vision loss occurs as the light-sensing cells of the retina gradually deteriorate.|MedlinePlus Genetics|N|
C4085597|CHOPS syndrome is a disorder involving multiple abnormalities that are present from birth (congenital). The name "CHOPS" is an abbreviation for a list of features of the disorder including cognitive impairment, coarse facial features, heart defects, obesity, lung (pulmonary) involvement, short stature, and skeletal abnormalities.\n\nChildren with CHOPS syndrome have intellectual disability and delayed development of skills such as sitting and walking. Characteristic facial features include a round face; thick hair; thick eyebrows that grow together in the middle (synophrys); wide-set, bulging eyes with long eyelashes; a short nose; and down-turned corners of the mouth.\n\nMost affected individuals are born with a heart defect called patent ductus arteriosus (PDA). The ductus arteriosus is a connection between two major arteries, the aorta and the pulmonary artery. This connection is open during fetal development and normally closes shortly after birth. However, the ductus arteriosus remains open, or patent, in babies with PDA. If untreated, this heart defect causes infants to breathe rapidly, feed poorly, and gain weight slowly; in severe cases, it can lead to heart failure. Multiple heart abnormalities have sometimes been found in children with CHOPS syndrome. In addition to PDA, affected individuals may have ventricular septal defect, which is a defect in the muscular wall (septum) that separates the right and left sides of the heart's lower chamber.\n\nPeople with CHOPS syndrome have abnormalities of the throat and airways that cause momentary cessation of breathing while asleep (obstructive sleep apnea). These abnormalities can also cause affected individuals to breathe food or fluids into the lungs accidentally, which can lead to a potentially life-threatening bacterial lung infection (aspiration pneumonia) and chronic lung disease. Affected individuals are shorter than more than 97 percent of their peers and are overweight for their height. They also have skeletal differences including unusually short fingers and toes (brachydactyly) and abnormally-shaped spinal bones (vertebrae).\n\nOther features that can occur in CHOPS syndrome include a small head size (microcephaly); hearing loss; clouding of the lens of the eye (cataract); a single, horseshoe-shaped kidney; and, in affected males, undescended testes (cryptorchidism).|MedlinePlus Genetics|N|
C4085625|Loss of all or part of the products of conception prior to the scheduled c-section date or expected delivery date.|NCI|N|
C4085634|A congenital heart malformation characterised by incomplete separation of the truncus arteriosus and the aorticopulmonary trunk, resulting in communication between the aorta and pulmonary trunk.|NCI|N|
C4085643|A subjective answer of a degree of agreement that is approximately halfway between the highest and lowest degrees of agreement.|NCI|N|
C4085651|Separate hard lumps, hard to pass; indicative of severe constipation.|NCI|N|
C4085652|Lumpy and sausage-like; indicative of constipation.|NCI|N|
C4085653|Like a smooth, soft sausage or snake; normal stool.|NCI|N|
C4085654|Soft blobs with clear-cut edges, passed easily.|NCI|N|
C4085655|A subjective response indicating that an individual is unsure if they are satisfied or dissatisfied.|NCI|N|
C4085873|Luscan-Lumish syndrome (LLS) is characterized by macrocephaly, intellectual disability, speech delay, low sociability, and behavioral problems. More variable features include postnatal overgrowth, obesity, advanced carpal ossification, developmental delay, and seizures (Luscan et al., 2014; Lumish et al., 2015)|OMIM|N|
C4085920|Atherosclerotic Cardiovascular Disease 10-Year Risk Estimator (ASCVD 10-Year Risk Estimator) Risk score.|NCI|N|
C4085923|ASSIGN Cardiovascular Disease 10-Year Risk Score (ASSIGN Score) Risk score.|NCI|N|
C4085928|An aberrant or malpositioned long, narrow slit or groove that divides a tissue into distinct areas.|NCI|N|
C4085929|A flexure that is deviating from the norm or outwith the bounds of what is considered normal.|NCI|N|
C4085930|The formation of a lobe of tissue that is aberrant in comparison to normal anatomy.|NCI|N|
C4085931|An origin that is deviating from the norm or outwith the bounds of what is considered normal.|NCI|N|
C4085932|Any line of sutures that deviates from its normal anatomical location.|NCI|N|
C4085933|The lack of a long, narrow slit or groove that divides a tissue into distinct areas.|NCI|N|
C4085997|A finding of a lack of symmetry between two or more bilateral aligned primary ossific nuclei (ossification centers), typically indicated by greater stain uptake in one or more primary ossification centers as compared to others.|NCI|N|
C4086026|A finding indicating that that an anatomic space or cavity is filled with blood.|NCI|N|
C4086027|A finding that the apex of the tail is rounded or dulled.|NCI|N|
C4086043|Liquid consistency with no solid pieces; indicative of diarrhea.|NCI|N|
C4086110|JFK Coma Recovery Scale-Revised (CRS-R) Total score.|NCI|N|
C4086112|Somatic point mutations or frameshift mutations in the CXCR4 gene that result in the truncation of between 10 and 19 amino acid residues from the carboxyl terminus of C-X-C chemokine receptor type 4 protein (CXCR-4) and are associated with Waldenstrom Macroglobulinemia. These mutations are similar to those found in the hereditary disease WHIM (warts, hypogammaglobulinemia, infections, and myelokathexis) syndrome and encode a constitutively active form of the CXCR-4 protein.|NCI|N|
C4086114|Mammary carcinoma occurring in a dog.|NCI|N|
C4086123|The level of awareness of an organism during a cardiovascular system assessment.|NCI|N|
C4086133|The outcome of the cardiovascular system assessment as originally received or collected.|NCI|N|
C4086143|A finding referring to incomplete or absent chondrogenesis.|NCI|N|
C4086144|Joined together by cartilage.|NCI|N|
C4086146|A congenital abnormality characterized by the abnormal development of the lower portion of the body. Findings include hypoplastic lower extremities, defects of the caudal vertebrae, sacrum and neural tube, or maldeveloped gastrointestinal or genital organs.|NCI|N|
C4086147|A developmental abnormality characterized by the complex protrusion of viscera outside the abdominal wall.|NCI|N|
C4086149|A radiologic finding indicating the presence of radio-opaque areas in the central parts of lung lobules.|NCI|N|
C4086151|An anaplastic ependymoma that occurs during childhood.|NCI|N|
C4086152|An astrocytoma that occurs during childhood.|NCI|N|
C4086153|An atypical choroid plexus papilloma that occurs during childhood.|NCI|N|
C4086154|A central nervous system ganglioneuroblastoma that occurs during childhood.|NCI|N|
C4086155|A choriocarcinoma occurring in children.|NCI|N|
C4086156|An embryonal carcinoma occurring in children.|NCI|N|
C4086157|A nodular ganglioneuroblastoma that occurs during childhood.|NCI|N|
C4086158|A ganglioneuroblastoma that occurs during childhood.|NCI|N|
C4086159|A gastrointestinal stromal tumor (GIST) occurring in childhood. Pediatric GISTs differ biologically from adult GISTs in that only 11% of pediatric GISTs have activating mutations of KIT and PDGFRA.|NCI|N|
C4086160|A germinomatous germ cell tumor occurring in children.|NCI|N|
C4086161|An immature teratoma occurring in children.|NCI|N|
C4086162|A malignant neoplasm that affects the kidney and occurs in childhood.|NCI|N|
C4086163|A mature teratoma occurring in children.|NCI|N|
C4086164|A mixed germ cell tumor occurring in children.|NCI|N|
C4086165|A neuroblastoma that occurs during childhood.|NCI|N|
C4086166|A nongerminomatous germ cell tumor occurring in children.|NCI|N|
C4086167|A mixed germ cell tumor that arises from the ovary and occurs in children.|NCI|N|
C4086168|A nongerminomatous germ cell tumor that arises in the ovary and occurs in children.|NCI|N|
C4086169|A pineal parenchymal tumor of intermediate differentiation that occurs during childhood.|NCI|N|
C4086170|A seminoma occurring in children.|NCI|N|
C4086171|A small intestinal carcinoma occurring in childhood.|NCI|N|
C4086172|A small intestinal leiomyosarcoma occurring in childhood.|NCI|N|
C4086173|An immature teratoma that arises from the testis and occurs in children.|NCI|N|
C4086174|A mature teratoma that arises from the testis and occurs in children.|NCI|N|
C4086175|A non-seminomatous germ cell tumor that arises in the testis and occurs in children.|NCI|N|
C4086176|A follicular thyroid gland carcinoma occurring in childhood.|NCI|N|
C4086177|A medullary thyroid gland carcinoma occurring in childhood.|NCI|N|
C4086178|A papillary thyroid gland carcinoma occurring during childhood.|NCI|N|
C4086185|A congenital abnormality consisting of a fissure in the midline of the upper jawbone.|NCI|N|
C4086186|An indication as to whether the subject was admitted to a healthcare clinic.|NCI|N|
C4086188|Relapse of multiple myeloma or plasma cell leukemia is defined as follows: Development of new soft tissue plasmacytomas or bone lesions; Definite increase in the size of existing plasmacytomas or bone lesions. A definite increase is defined as a 50% (and at least 1 cm) increase as measured serially by the sum of the products of the cross-diameters of the measurable lesion; Hypercalcemia (> 11.5 mg/dL) [2.65 mmol/L]; Decrease in hemoglobin of > 2 g/dL [1.25 mmol/L]; and rise in serum creatinine by 2 mg/dL or more [177 mmol/L or more]. (International Myeloma Working Group (IMWG) Uniform Response Criteria for Multiple Myeloma. <http://myeloma.org/ArticlePage.action?articleId=2994>)|NCI|N|
C4086206|A finding in which the walls of a tube or tubular organ have contorted or buckled into its cavity or channel.|NCI|N|
C4086208|Absence of residual disease based on pre-defined thresholds and MRD negativity by laboratory techniques.|NCI|N|
C4086229|A finding that the tail is curved or coiled into a circular shape.|NCI|N|
C4086254|Mutation located after the C-helix of the tyrosine kinase domain of EGFR.|NCI|N|
C4086255|A nucleotide substitution at position 2303 of the coding sequence of the EGFR gene where guanine has been mutated to thymine.|NCI|N|
C4086256|A change in the amino acid residue at position 768 in the epidermal growth factor receptor protein where serine has been replaced by isoleucine.|NCI|N|
C4086258|A birth event that occurs prior to the scheduled c-section date or expected delivery date.|NCI|N|
C4086259|A death of the embryo occurring inside the uterus.|NCI|N|
C4086263|An implantation site that contains no discernible embryonic or placental tissue but may contain remnants of the implantation.|NCI|N|
C4086268|A worsening of a problem, condition, or disease.|NCI|N|
C4086272|A benign neoplasm containing two or more cell types arising from the mesenchymal and epithelial components.|NCI|N|
C4086273|A sex cord-stromal tumor that arises from the testis or ovary and does not metastasize.|NCI|N|
C4086274|A benign polyp with prominent, hyperplastic glandular structures.|NCI|N|
C4086275|A smooth muscle neoplasm with malignant charcateristics that arises from the mesovarium.|NCI|N|
C4086276|A malignant sex cord-stromal neoplasm that arises from the testis or ovary and is composed of a mix of cell types.|NCI|N|
C4086277|A carcinoma that arises from neuroepithelial tissues of the olfactory epithelium.|NCI|N|
C4086278|A malignant mesenchymal neoplasm that arises from a pre-existing benign fibroadenoma.|NCI|N|
C4086279|A benign neoplasm arising from the submucosa and composed of large eosinophilic epithelioid and spindle cells. (INHAND)|NCI|N|
C4086288|An abnormal communication between the external auditory canal and the adjacent tissues.|NCI|N|
C4086295|Framingham Heart Study Cardiovascular Disease 10-Year Risk Score (FCVD1-Framingham CVD 10-Year Risk Score) Risk score.|NCI|N|
C4086299|An indication that something is growing at a fast rate.|NCI|N|
C4086315|Excessive blood loss within the first trimester but prior to onset of labor.|NCI|N|
C4086316|A tag or fold of skin or mucous tissue that extends from an anatomical structure without bony support.|NCI|N|
C4086333|A question about the frequency of an individual''s erections.|NCI|N|
C4086360|A morphologic finding indicating the presence of germinoma, dysgerminoma, or seminoma germ cells.|NCI|N|
C4086365|Formation of a blood clot (thrombus) in the lumen of the vein that carries blood away from the testis or ovary.|NCI|N|
C4086367|The amount of maternal body weight gained over a period of time where the weight at the end of the interval is adjusted for the gravid uterus weight. This is derived by subtracting the maternal body weight adjusted for the gravid uterus from the total maternal body weight.|NCI|N|
C4086443|A condition characterized by the absence of either lateral half of a sternebra.|NCI|N|
C4086444|Formation of a blood clot (thrombus) in the lumen of the veins in the liver or hepatic artery.|NCI|N|
C4086446|Pathology analysis not related to the pathologic prescreen review determined a specific histological subtype that is different from the original pathology report.|NCI|N|
C4086447|The pathologic prescreen review for this project determined that the histologic subtype is different from the pathology report.|NCI|N|
C4086449|A finding that the tail has an approximate 180 degree bend or curve.|NCI|N|
C4086503|Having a chromosomal number greater than the normal diploid number, with the status of chromosomes 4 and 10 unknown.|NCI|N|
C4086504|Describes areas on an x-ray or CT scan that show up as darker than surrounding tissues.|NCI|N|
C4086510|A molecular abnormality indicating the presence of gene rearrangement(s) of the immunoglobulin heavy chain (IGH) locus in the regions encoding the diversity and/or joining regions.|NCI|N|
C4086511|A molecular abnormality indicating the presence of gene rearrangement(s) of the IGH locus in the regions encoding the variable, diversity and/or joining regions.|NCI|N|
C4086513|A subjective score of 1 on a scale that ranges from 0: Not at all important to 4: Extremely important.|NCI|N|
C4086514|A subjective score of 2 on a scale that ranges from 0: Not at all important to 4: Extremely important.|NCI|N|
C4086515|A subjective score of 3 on a scale that ranges from 0: Not at all important to 4: Extremely important.|NCI|N|
C4086519|Incomplete formation of cartilage.|NCI|N|
C4086520|The inconsistency was caused because macrodissection was performed at the tissue source site to select a region containing an acceptable diagnosis, and the sample histological subtype of the resulting sample was different from the original pathology report.|NCI|N|
C4086524|A cytogenetic abnormality that refers to the allelic gain of an internal part of chromosome 21. It is a rare high-risk chromosomal abnormality that occurs in approximately 2-5% of pediatric patients with B-cell precursor Acute Lymphoblastic Leukemia. This abnormality has been associated with a poor outcome in patients treated by standard protocols.|NCI|N|
C4086529|An ossification site not localized to the main ossification area, as indicated by staining, but is still considered to be within the margins of a normal bone precursor.|NCI|N|
C4086533|A syndrome caused by Kaposi sarcoma-associated herpesvirus (KSHV) infection. It manifests with fever, weight loss, and fluid retention in the legs or abdomen. Patients are at risk of developing KSHV-related cancers including Kaposi sarcoma and lymphoma.|NCI|N|
C4086534|A finding that the tail has a localized undulation.|NCI|N|
C4086543|A response indicating that an individual expects to, or is expected to, live less than five years.|NCI|N|
C4086544|A response indicating that an individual expects to, or is expected to, live less than ten years.|NCI|N|
C4086551|A measurement of the concentration of iron in the liver as an estimate of body iron load.|NCI|N|
C4086564|The pressure and/or displacement of adjacent tissues that results from the growth of a mass.|NCI|N|
C4086578|A description or characterization of the duration of a microscopic finding.|NCI|N|
C4086580|A radiologic finding that describes the movement of the brain beyond the center line.|NCI|N|
C4086585|Absence of residual disease based on laboratory techniques.|NCI|N|
C4086586|Presence of residual disease based on pre-defined thresholds and quantifiable MRD positivity by laboratory techniques.|NCI|N|
C4086587|Presence of residual disease based on pre-defined thresholds and return of quantifiable MRD positivity after a period of MRD negativity.|NCI|N|
C4086588|An assessment of the minimal residual disease response to therapy.|NCI|N|
C4086593|A subjective response indicating that something is moderately worse.|NCI|N|
C4086605|The agent, stimulus, activity, or event that causes stress with an acute frequency, which has the highest level of severity.|NCI|N|
C4086606|The agent, stimulus, activity, or event that causes stress with a chronic frequency, which has the highest level of severity.|NCI|N|
C4086607|A carcinoma arising from the epithelium of the renal parenchyma or the renal pelvis of a mouse.|NCI|N|
C4086608|Plasma cell myeloma occurring in a mouse.|NCI|N|
C4086609|A mouse chromosomal abnormality consisting of the presence of a third copy of chromosome 16 in somatic cells. Mice that are trisomic for chromosome 16 offer a genetic model for studies relevant to Down syndrome.|NCI|N|
C4086611|A lysosomal storage disease characterized by multiple bone formation abnormalities, progressive joint stiffness, developmental abnormalities, hearing loss, hepatosplenomegaly, increased acne, enlarged tongue, and cornea clouding due to accumulation of lipid substances.|NCI|N|
C4086623|A radiologic finding indicating the presence of a solitary, round, circumscribed shadow in the lung on chest x-ray.|NCI|N|
C4086629|A subjective answer of non-agreement regarding the certainty of something.|NCI|N|
C4086632|A subjective answer of weak agreement regarding the certainty of something.|NCI|N|
C4086715|Patient Health Questionnaire - 15 (PHQ-15) Total score.|NCI|N|
C4086720|The concentration of prostate specific antigen in a sample.|NCI|N|
C4086724|A skin lesion characterized by the presence of scaly papules and plaques.|NCI|N|
C4086744|Abnormal skin pigmentation.|NCI|N|
C4086746|An abnormal flow pattern where the portal venous flow is from the periphery of the liver towards the porta and backwards along the portal vein. It is most typically associated with liver disease.|NCI|N|
C4086760|Presence of quantifiable residual disease based on laboratory techniques.|NCI|N|
C4086765|Malignant meningioma occurring in a rat. Spontaneously occurring meningiomas in the rat are histologically similar to human meningiomas.|NCI|N|
C4086766|A malignant peripheral nerve sheath tumor occurring in a rat.|NCI|N|
C4086767|Plasma cell myeloma occurring in a rat.|NCI|N|
C4086769|A subjective score of 0 on a scale that ranges from 0: I am not ready to quit to 10: I am ready to quit now.|NCI|N|
C4086770|A subjective score of 10 on a scale that ranges from 0: I am not ready to quit to 10: I am ready to quit now.|NCI|N|
C4086771|A subjective score of 1 on a scale that ranges from 0: I am not ready to quit to 10: I am ready to quit now.|NCI|N|
C4086772|A subjective score of 2: I think I need to consider quitting some day on a scale that ranges from 0: I am not ready to quit to 10: I am ready to quit now.|NCI|N|
C4086773|A subjective score of 3 on a scale that ranges from 0: I am not ready to quit to 10: I am ready to quit now.|NCI|N|
C4086774|A subjective score of 4: I think I should quit but I''m not quite ready on a scale that ranges from 0: I am not ready to quit to 10: I am ready to quit now.|NCI|N|
C4086775|A subjective score of 5 on a scale that ranges from 0: I am not ready to quit to 10: I am ready to quit now.|NCI|N|
C4086776|A subjective score of 6: I am thinking about cutting down or quitting on a scale that ranges from 0: I am not ready to quit to 10: I am ready to quit now.|NCI|N|
C4086777|A subjective score of 7 on a scale that ranges from 0: I am not ready to quit to 10: I am ready to quit now.|NCI|N|
C4086778|A subjective score of 8: I have cut down or am seriously thinking of quitting on a scale that ranges from 0: I am not ready to quit to 10: I am ready to quit now.|NCI|N|
C4086779|A subjective score of 9 on a scale that ranges from 0: I am not ready to quit to 10: I am ready to quit now.|NCI|N|
C4086782|The reemergence of acute myeloid leukemia with myelodysplasia-related changes after a period of remission.|NCI|N|
C4086798|Clinical and/or laboratory evidence of reemergence of a malignancy after a period of remission.|NCI|N|
C4086799|A pregnancy result for a female that had all intrauterine deaths.|NCI|N|
C4086804|The level of awareness of an organism during a respiratory system assessment.|NCI|N|
C4086815|The outcome of the respiratory system assessment as originally received or collected.|NCI|N|
C4086829|Lack of the prior infectious complications or malignancy that preceded a transplant|NCI|N|
C4086830|Reynolds Cardiovascular Disease 10-Year Risk Score (Reynolds CVD 10-Year Risk Score) Risk score.|NCI|N|
C4086836|A molecular genetic abnormality that refers to the mutation of the SMO gene located on chromosome 7q32.3.|NCI|N|
C4086851|A condition found in some polyzygotic pregnancies where two or more fetuses share a single placenta.|NCI|N|
C4086857|An indication that something is growing at a slow rate.|NCI|N|
C4086863|A response indicating that an individual is or was somewhat bothered.|NCI|N|
C4086874|Sutures commonly found within the parietal and occipital bones of the skull due to their multiple ossification centers. These sutures exhibit a zigzag pattern with interdigitations and sclerotic borders similar to, and join and merge with the major sutures.|NCI|N|
C4086875|An extraneous, additional long narrow slit or groove that divides an organ into lobes, or tissues and bone into parts.|NCI|N|
C4086879|A global deterioration of health status providing evidence of disease progression not covered by disease response criteria (eg. RECIST).|NCI|N|
C4086902|Excessive blood loss within the third trimester but prior to onset of labor.|NCI|N|
C4086908|A finding that a tooth has not emerged.|NCI|N|
C4086914|Death due to complications following an organ transplant.|NCI|N|
C4086922|The absence of bone tissue.|NCI|N|
C4086928|A question about whether an individual uses or used heroin.|NCI|N|
C4086945|The point during exercise at which pulmonary ventilation becomes disproportionately high with respect to oxygen consumption.|NCI|N|
C4086946|An indication that something is growing at a very fast rate.|NCI|N|
C4086949|An indication that something is growing at a very slow rate.|NCI|N|
C4086951|A finding that the blood vessels are arising from the same location.|NCI|N|
C4086961|West Haven Hepatic Encephalopathy Grade (West Haven Criteria) Grade.|NCI|N|
C4086965|Hepatocellular carcinoma (HCC) occurring in a woodchuck, usually as a result of chronic infection by the woodchuck hepatitis virus. The woodchuck model of viral-induced HCC provides an animal model that resembles the complex human liver environment of HCC in the context of chronic hepatitis B viral infection.|NCI|N|
C4087006|An intermixed ganglioneuroblastoma that occurs during childhood.|NCI|N|
C4087047|A death of the fetus occurring inside the uterus.|NCI|N|
C4087051|A congenital neural tube closure defect resulting in protrusion of the brain, the meninges, and the ventricular system through an opening in the skull, usually involving the squamous part of the occipital bone.|NCI|N|
C4087058|Presence of non-quantifiable residual disease based on laboratory techniques.|NCI|N|
C4087096|A myxopapillary ependymoma that occurs during childhood.|NCI|N|
C4087124|A clinical disease characterized by elevated serum IgG4 concentration and tumefaction or tissue infiltration by IgG4-positive plasma cells.|SNOMEDCT_US|N|
C4087141|Squamous cell carcinoma of the skin which has spread to other anatomic sites.|NCI|N|
C4087174|Bilateral striatal necrosis (BSN) encompasses a heterogeneous group of neurologic disorders with different causation. Familial infantile striatal degeneration is rare and can be inherited as an autosomal recessive or mitochondrial (see 500003) disorder. The familial form has an insidious onset and a slowly progressive course; the sporadic form is associated with acute systemic illness. Many features of BSN overlap with Leigh syndrome (see 256000) and certain metabolic disorders, including glutaric acidemia I (231670) and methylmalonic aciduria (251000). See also Aicardi-Goutieres syndrome (225750) (Mito et al., 1986; De Meirleir et al., 1995).
Genetic Heterogeneity of Striatonigral Degeneration
Childhood-onset striatonigral degeneration (617054) is caused by mutation in the VAC14 gene (604632) on chromosome 16q22.
See also adult-onset autosomal dominant striatal degeneration (ADSD; 609161), caused by mutation in the PDE8B gene (603390) on chromosome 5q13, and early-onset dystonia-37 with striatal lesions (DYT37; 620427), caused by mutation in the NUP54 gene (607607) on chromosome 4q21.|OMIM|N|
C4087175|Sporadic infantile bilateral necrosis is the sporadic form of infantile bilateral striatal necrosis (IBSN; see this term), a syndrome of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis.|ORDO|N|
C4087225|An adverse event resulting from an immune system reaction to a drug or device. It can affect any organ or system.|NCI|N|
C4087263|Persistent depressive disorder is a chronic mood disorder characterized by persistent depressed mood present for a least two years, for most of the day and for more days than not.|SNOMEDCT_US|N|
C4087267|Dyspnea as a result of bending forward while not holding one's breath; dyspnea or shortness of breath onset within 30 seconds of bending forward.|HPO|N|
C4087273|A form of primary membranoproliferative glomerulonephritis characterized by the presence in renal biopsy samples of a glomerulonephritis with sole (or at least dominant) glomerular immunofluorescence staining for C3. Non-specific alterations or proliferative patterns with C3-dominant glomerular staining are also possible. Based upon electron microscopic findings, C3 glomerulopathy (C3G) may be further classified as C3 glomerulonephritis (C3GN) or Dense deposit disease (DDD).|ORDO|N|
C4087275|Visceral venous thrombosis is an acute, subacute, or chronic complication often occurring in patients with inherited or acquired thrombophilia.|SNOMEDCT_US|N|
C4087301|A rare skin disease characterised by transient wrinkling of the skin, oedema, formation of whitish papules, pruritus, burning sensation or pain on the palms and/or soles in response to contact with water. The duration of exposure and water temperature affect the rate of development and intensity of the lesions. The condition is more common in females than in males and frequently occurs in patients with cystic fibrosis.|SNOMEDCT_US|N|
C4087347|A clinically and genetically heterogeneous group of neurodegenerative diseases characterized by a slowly progressive ataxia of gait, stance and limbs, dysarthria and/or oculomotor disorder, due to cerebellar degeneration in the absence of coexisting diseases. The degenerative process can be limited to the cerebellum (ADCA type 3) or may additionally involve the retina (ADCA type 2), optic nerve, ponto-medullary systems, basal ganglia, cerebral cortex, spinal tracts or peripheral nerves (ADCA type 1). In ACDA type 4, a cerebellar syndrome is associated with epilepsy.|ORDO|N|
C4087393|Marginal zone lymphoma which does not respond to treatment.|NCI|N|
C4087468|A carcinoma that arises from the urothelial lining of the renal pelvis. It is associated with tobacco use and usually presents with gross or microscopic hematuria. Urothelial carcinomas of the renal pelvis are usually of higher grade and higher stage compared to bladder urothelial carcinomas.|NCI|N|
C4087469|Myxoid liposarcoma that has spread to other anatomic sites.|NCI|N|
C4087471|A cholangiocarcinoma that has metastasized to other anatomic sites.|NCI|N|
C4087488|Fat infiltration in the pancreas.|HPO|N|
C4225153|POLG-related disorders comprise a continuum of overlapping phenotypes that were clinically defined long before their molecular basis was known. Most affected individuals have some, but not all, of the features of a given phenotype; nonetheless, the following nomenclature can assist the clinician in diagnosis and management. Onset of the POLG-related disorders ranges from infancy to late adulthood. Alpers-Huttenlocher syndrome (AHS), one of the most severe phenotypes, is characterized by childhood-onset progressive and ultimately severe encephalopathy with intractable epilepsy and hepatic failure. Childhood myocerebrohepatopathy spectrum (MCHS) presents between the first few months of life and about age three years with developmental delay or dementia, lactic acidosis, and a myopathy with failure to thrive. Other findings can include liver failure, renal tubular acidosis, pancreatitis, cyclic vomiting, and hearing loss. Myoclonic epilepsy myopathy sensory ataxia (MEMSA) now describes the spectrum of disorders with epilepsy, myopathy, and ataxia without ophthalmoplegia. MEMSA now includes the disorders previously described as spinocerebellar ataxia with epilepsy (SCAE). The ataxia neuropathy spectrum (ANS) includes the phenotypes previously referred to as mitochondrial recessive ataxia syndrome (MIRAS) and sensory ataxia neuropathy dysarthria and ophthalmoplegia (SANDO). About 90% of persons in the ANS have ataxia and neuropathy as core features. Approximately two thirds develop seizures and almost one half develop ophthalmoplegia; clinical myopathy is rare. Autosomal recessive progressive external ophthalmoplegia (arPEO) is characterized by progressive weakness of the extraocular eye muscles resulting in ptosis and ophthalmoparesis (or paresis of the extraocular muscles) without associated systemic involvement; however, caution is advised because many individuals with apparently isolated arPEO at the onset develop other manifestations of POLG-related disorders over years or decades. Of note, in the ANS spectrum the neuropathy commonly precedes the onset of PEO by years to decades. Autosomal dominant progressive external ophthalmoplegia (adPEO) typically includes a generalized myopathy and often variable degrees of sensorineural hearing loss, axonal neuropathy, ataxia, depression, parkinsonism, hypogonadism, and cataracts (in what has been called "chronic progressive external ophthalmoplegia plus," or "CPEO+").|GeneReviews|N|
C4225154|Mitochondrial complex IV deficiency nuclear type 9 (MC4DN9) is an autosomal recessive multisystem metabolic disorder characterized by neonatal hypertrophic cardiomyopathy resulting in death in early infancy. Patient tissues show decreased levels and activity of mitochondrial respiratory complex IV (summary by Huigsloot et al., 2011).
For a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see 220110.|OMIM|N|
C4225155|Sideroblastic anemia-3 is an autosomal recessive hematologic disorder characterized by onset of anemia in adulthood. Affected individuals show signs of systemic iron overload, and iron chelation therapy may be of clinical benefit (summary by Liu et al., 2014).
For a discussion of genetic heterogeneity of sideroblastic anemia, see SIDBA1 (300751).|OMIM|N|
C4225156|Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the COL4A3BP gene.|MONDO|N|
C4225157|NTHL1 tumor syndrome is characterized by an increased lifetime risk for colorectal cancer (CRC), breast cancer, and colorectal polyposis. Colorectal polyps can be adenomatous, hyperplastic, and/or sessile serrated. Duodenal polyposis has also been reported. Additional cancers reported in individuals with NTHL1 tumor syndrome include endometrial cancer, cervical cancer, urothelial carcinoma of the bladder, meningiomas, unspecified brain tumors, basal cell carcinomas, head and neck squamous cell carcinomas, and hematologic malignancies. The cumulative lifetime risk of developing extracolonic cancer by age 60 years has been estimated at 35% to 78%.|GeneReviews|N|
C4225158|A rare autosomal dominant cerebellar ataxia type III disorder with characteristics of adult-onset progressive imbalance and loss of coordination associated with an ataxic gait. Mild atrophy of the cerebellar vermis has been reported on brain magnetic resonance imaging.|SNOMEDCT_US|N|
C4225159|Reducing-body myopathy (RBM) is a rare myopathy characterized pathologically by the presence of intracytoplasmic inclusion bodies strongly stained by menadione-linked alpha-glycerophosphate dehydrogenase (MAG) in the absence of substrate, alpha-glycerophosphate. The term 'reducing body' refers to the reducing activity of the inclusions to nitroblue tetrazolium (NBT) in the absence of substrate. This condition is also commonly associated with rimmed vacuoles and cytoplasmic bodies. The clinical features of RBM are variable; a severe form has onset in infancy or early childhood and results in severe disability or early death (RBMX1A; 300717), and a less severe form has onset in late childhood or adulthood (RBMX1B) (summary by Liewluck et al., 2007 and Shalaby et al., 2009).|OMIM|N|
C4225160|THPM2 is associated with severe hematopoietic toxicity when patients are treated with standard doses of thiopurines, a class of antineoplastic/immunosuppressant agents that consists of mercaptopurine, thioguanine, and azathioprine. Thiopurines are prodrugs that require extensive metabolism in order to exert their cytotoxic action. Thiopurines are converted into cytotoxic thioguanine nucleotides (TG), which are incorporated into DNA and cause cell death. NUDT15 inactivates thiopurine metabolites and negatively regulates cytotoxicity (summary by Moriyama et al., 2016). The NUDT15 deficiency trait follows an additive genetic mode of inheritance, with the severity of the phenotype proportional to the cumulative number of risk alleles in NUDT15.
For a discussion of genetic heterogeneity of poor thiopurine metabolism, see THPM1 (610460).|OMIM|N|
C4225162|Complex lethal osteochondrodysplasia of the Symoens-Barnes-Gistelinck type is characterized by severe skeletal osteopenia, microcephaly, multiple fractures, and congenital anomalies including ascites, pleural effusion, and intracranial ventriculomegaly (Symoens et al., 2015).|OMIM|N|
C4225163|Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the OPA1 gene.|MONDO|N|
C4225164|Autosomal dominant Robinow syndrome (ADRS) is characterized by skeletal findings (short stature, mesomelic limb shortening predominantly of the upper limbs, and brachydactyly), genital abnormalities (in males: micropenis / webbed penis, hypoplastic scrotum, cryptorchidism; in females: hypoplastic clitoris and labia majora), dysmorphic facial features (widely spaced and prominent eyes, frontal bossing, anteverted nares, midface retrusion), dental abnormalities (including malocclusion, crowding, hypodontia, late eruption of permanent teeth), bilobed tongue, and occasional prenatal macrocephaly that persists postnatally. Less common findings include renal anomalies, radial head dislocation, vertebral abnormalities such as hemivertebrae and scoliosis, nail dysplasia, cardiac defects, cleft lip/palate, and (rarely) cognitive delay. When present, cardiac defects are a major cause of morbidity and mortality. A variant of Robinow syndrome, associated with osteosclerosis and caused by a heterozygous pathogenic variant in DVL1, is characterized by normal stature, persistent macrocephaly, increased bone mineral density with skull osteosclerosis, and hearing loss, in addition to the typical features described above.|GeneReviews|N|
C4225165|Nephrotic syndrome type 13 is a steroid-resistant form of nephrotic syndrome with focal segmental glomerulosclerosis (Braun et al., 2016).|OMIM|N|
C4225166|Nephrotic syndrome type 12 (NPHS12) is an autosomal recessive renal disorder caused by defects in the renal glomerular filter. Affected individuals have onset of progressive renal failure in the first years of life. Renal biopsy typically shows focal segmental glomerulosclerosis (FSGS) (summary by Braun et al., 2016).
For a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome, see NPHS1 (256300).|OMIM|N|
C4225168|Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the LMAN2L gene.|MONDO|N|
C4225169|Advanced sleep phase syndrome is characterized by early sleep time (sleep onset) and early morning awakening (sleep offset) (summary by Zhang et al., 2016).
For a discussion of genetic heterogeneity of advanced sleep phase syndrome, see FASPS1 (604348).|OMIM|N|
C4225170|Hypomyelinating leukodystrophy-13 is an autosomal recessive neurodegenerative disorder characterized by infantile onset of delayed psychomotor development, axial hypotonia, and spasticity associated with delayed myelination and periventricular white matter abnormalities on brain imaging. More variable neurologic deficits, such as visual impairment, may also occur. Some patients may experience cardiac failure during acute illness (summary by Edvardson et al., 2016).
For a general phenotypic description and a discussion of genetic heterogeneity of HLD, see 312080.|OMIM|N|
C4225173|Common variable immunodeficiency-13 (CVID13) is an autosomal dominant primary immunodeficiency disorder characterized by recurrent bacterial infections, mainly affecting the respiratory tract, and associated with hypogammaglobulinemia and decreased numbers of B cells. The age at onset of clinical features can range from infancy to adulthood, and some patients may have a mild disorder or even remain clinically asymptomatic (summary by Kuehn et al., 2016).
For a general description and a discussion of genetic heterogeneity of common variable immunodeficiency, see CVID1 (607594).|OMIM|N|
C4225174|DDX41-associated familial myelodysplastic syndrome and acute myeloid leukemia (MDS/AML) is characterized by an increased risk of myeloid neoplasms, lymphoid neoplasms, adult-onset single- or multiple-lineage cytopenias (including aplastic anemia), and red blood cell macrocytosis. The most common myeloid neoplasms include MDS, AML, and therapy-related myeloid neoplasms. Chronic myelomonocytic leukemia, chronic myeloid leukemia, and myeloproliferative neoplasms are less common. Lymphoid neoplasms include non-Hodgkin lymphoma, Hodgkin lymphoma, multiple myeloma, chronic lymphocytic leukemia, and acute lymphoblastic leukemia.|GeneReviews|N|
C4225176|Spinal muscular atrophy with congenital bone fractures is an autosomal recessive severe neuromuscular disorder characterized by onset of severe hypotonia with fetal hypokinesia in utero. This results in congenital contractures, consistent with arthrogryposis multiplex congenita, and increased incidence of prenatal fracture of the long bones. Affected infants have difficulty breathing and feeding and often die in the first days or months of life (summary by Knierim et al., 2016).
For a discussion of genetic heterogeneity of spinal muscular atrophy with congenital bone fractures, see SMABF1 (616866).|OMIM|N|
C4225177|Spinal muscular atrophy with congenital bone fractures is an autosomal recessive severe neuromuscular disorder characterized by onset of severe hypotonia with fetal hypokinesia in utero. This results in congenital contractures, consistent with arthrogryposis multiplex congenita, and increased incidence of prenatal fracture of the long bones. Affected infants have difficulty breathing and feeding and often die in the first days or months of life (summary by Knierim et al., 2016).
Genetic Heterogeneity of Spinal Muscular Atrophy With Congenital Bone Fractures
See also SMABF2 (616867), caused by mutation in the ASCC1 gene (614215) on chromosome 10q22.|OMIM|N|
C4225178|Childhood-onset spasticity with hyperglycinemia is an autosomal recessive disorder characterized by onset of slowly progressive spasticity that results in impaired gait in the first decade of life. Imaging of the central nervous system shows leukodystrophy and/or lesions in the upper spinal cord. More variable features include visual defects and mild learning disabilities. Serum glycine is increased, but CSF glycine is only mildly increased or normal; serum lactate is normal. The disorder represents a form of 'variant' nonketotic hyperglycinemia and is distinct from classic nonketotic hyperglycinemia (NKH, or GCE; 605899), which is characterized by significantly increased CSF glycine. Several forms of 'variant' NKH, including SPAHGC, appear to result from defects of mitochondrial lipoate biosynthesis (summary by Baker et al., 2014).|OMIM|N|
C4225179|Cowden syndrome is a genetic disorder characterized by multiple noncancerous, tumor-like growths called hamartomas and an increased risk of developing certain cancers.\n\nAlmost everyone with Cowden syndrome develops hamartomas. These growths are most commonly found on the skin and mucous membranes (such as the lining of the mouth and nose), but they can also occur in the intestine and other parts of the body. The growth of hamartomas on the skin and mucous membranes typically becomes apparent by a person's late twenties.\n\nCowden syndrome is associated with an increased risk of developing several types of cancer, particularly cancers of the breast, a gland in the lower neck called the thyroid, and the lining of the uterus (the endometrium). Other cancers that have been identified in people with Cowden syndrome include kidney cancer, colorectal cancer, and an agressive form of skin cancer called melanoma. Compared with the general population, people with Cowden syndrome develop these cancers at younger ages, often beginning in their thirties or forties. People with Cowden syndrome are also more likely to develop more than one cancer during their lifetimes compared to the general population. Other diseases of the breast, thyroid, and endometrium are also common in Cowden syndrome. Additional signs and symptoms can include an enlarged head (macrocephaly) and a rare, noncancerous brain tumor called Lhermitte-Duclos disease. A small percentage of affected individuals have delayed development, intellectual disability, or autism spectrum disorder, which can affect communication and social interaction.\n\nSome people do not meet the strict criteria for a clinical diagnosis of Cowden syndrome, but they have some of the characteristic features of the condition, particularly the cancers. These individuals are often described as having Cowden-like syndrome. Both Cowden syndrome and Cowden-like syndrome are caused by mutations in the same genes.\n\n\n\nThe features of Cowden syndrome overlap with those of another disorder called Bannayan-Riley-Ruvalcaba syndrome. People with Bannayan-Riley-Ruvalcaba syndrome also develop hamartomas and other noncancerous tumors.  Some people with Cowden syndrome have relatives diagnosed with Bannayan-Riley-Ruvalcaba syndrome, and other affected individuals have the characteristic features of both conditions. Based on these similarities, researchers have proposed that Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome represent a spectrum of overlapping features known as PTEN hamartoma tumor syndrome (named for the genetic cause of the conditions) instead of two distinct conditions.|MedlinePlus Genetics|N|
C4225180|EVEN-plus syndrome (EVPLS) is characterized by prenatal-onset short stature, vertebral and epiphyseal changes, microtia, midface hypoplasia with flat nose and triangular nares, cardiac malformations, and other findings including anal atresia, hypodontia, and aplasia cutis. The features overlap those reported in patients with CODAS syndrome (600373; Royer-Bertrand et al., 2015).|OMIM|N|
C4225181|Scapulohumeroperoneal myopathy is an autosomal dominant muscle disorder characterized by slowly progressive muscle weakness and atrophy affecting both proximal and distal muscles of the upper and lower limbs. Onset is usually in the first decade and can be as early as infancy, although some patients do not notice symptoms until young adulthood. There is marked variability in severity (summary by Zukosky et al., 2015).|OMIM|N|
C4225182|Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the SIPA1L3 gene.|MONDO|N|
C4225183|Any brachydactyly type A1 in which the cause of the disease is a mutation in the BMPR1B gene.|MONDO|N|
C4225184|Lymphatic malformation-6 is a form of generalized lymphatic dysplasia (GLD), which is characterized by a uniform, widespread lymphedema affecting all segments of the body, with systemic involvement such as intestinal and/or pulmonary lymphangiectasia, pleural effusions, chylothoraces and/or pericardial effusions. In LMPHM6, there is a high incidence of nonimmune hydrops fetalis (NIHF) with either death or complete resolution of the neonatal edema, but childhood onset of lymphedema with or without systemic involvement also occurs. Mild facial edema is often present. Patients have normal intelligence and no seizures (summary by Fotiou et al., 2015).
For a discussion of genetic heterogeneity of lymphatic malformation, see 153100.|OMIM|N|
C4225186|Parkinson disease-23 is a progressive neurodegenerative disorder characterized by young-adult onset of parkinsonism associated with progressive cognitive impairment leading to dementia and dysautonomia. Some individuals have additional motor abnormalities. Affected individuals become severely disabled within a few decades (summary by Lesage et al., 2016).|OMIM|N|
C4225188|Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the GMNN gene.|MONDO|N|
C4225190|Congenital disorder of glycosylation type IIp (CDG2P) is an autosomal recessive metabolic disorder characterized by mild liver dysfunction, which may be found incidentally during adolescence. Laboratory abnormalities include elevated liver enzymes and alkaline phosphatase, coagulation factor deficiencies, hypercholesterolemia, and low ceruloplasmin. Serum isoelectric focusing of proteins shows a combined defect of N- and O-glycosylation, suggestive of a Golgi defect (summary by Jansen et al., 2016).
For an overview of congenital disorders of glycosylation, see CDG1A (212065) and CDG2A (212066).|OMIM|N|
C4225191|Congenital disorder of glycosylation type IIo (CDG2O) is an autosomal recessive metabolic disorder characterized by infantile onset of progressive liver failure, hypotonia, and delayed psychomotor development. Laboratory abnormalities include elevated liver enzymes, coagulation factor deficiencies, hypercholesterolemia, and low ceruloplasmin. Serum isoelectric focusing of proteins shows a combined defect of N- and O-glycosylation, suggestive of a Golgi defect (summary by Jansen et al., 2016).
For a general discussion of CDGs, see CDG1A (212065).|OMIM|N|
C4225192|Autosomal recessive muscular dystrophy with cardiomyopathy and triangular tongue (MDRCMTT) is an autosomal recessive muscle disorder characterized by onset of severe and progressive muscle weakness and atrophy in childhood, resulting in loss of independent ambulation. Patients may also have dilated cardiomyopathy and have macroglossia with a small tip, resulting in a triangular appearance of the tongue (summary by Warman Chardon et al., 2015).|OMIM|N|
C4225193|A rare genetic neurological disorder with characteristics of congenital microcephaly, severe intellectual disability, hypertonia at birth lessening with age, ataxia and specific dysmorphic facial features including hirsutism, low anterior hairline and bitemporal narrowing arched thick and medially sparse eyebrows, long eyelashes, lateral upper eyelids swelling and a skin fold partially covering the inferior eyelids, low-set posteriorly rotated protruding ears, anteverted nares and a full lower lip. Brain imaging shows partial to almost complete agenesis of the corpus callosum and variable degrees of cerebellar hypoplasia. Caused by homozygous mutation in the FRMD4A gene on chromosome 10p13.|SNOMEDCT_US|N|
C4225194|Any IgA glomerulonephritis in which the cause of the disease is a mutation in the SPRY2 gene.|MONDO|N|
C4225195|Microcephaly, short stature, and impaired glucose metabolism-2 (MSSGM2) is an autosomal recessive syndrome characterized by microcephaly associated with impaired intellectual development, and short stature. Patients develop diabetes in the second or third decade of life, and hypothyroidism and delayed puberty have also been reported (Abdulkarim et al., 2015; Kernohan et al., 2015).
For a discussion of genetic heterogeneity of microcephaly, short stature, and impaired glucose metabolism, see MSSGM1 (616033).|OMIM|N|
C4225196|Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome is a rare, genetic, non-dystrophic congenital myopathy disorder characterized by a neonatal-onset of severe generalized hypotonia associated with mild psychomotor delay, congenital strabismus with abducens nerve palsy, and atrial and/or ventricular septal defects. Cryptorchidism is commonly reported in male patients and muscle biopsy typically reveals increased variability in muscle fiber size.|ORDO|N|
C4225197|Maternal genes play a critical role in the very early stages of embryonic development because of the lag in transcribing genes derived from the male pronucleus. TLE6 mutations are a rare cause of human female-limited fertility and appear to represent the earliest known human embryonic lethality that is due to a single gene mutation. In affected women, ovulation proceeds normally and the retrieved oocytes appear normal, but zygote formation is severely impaired (Alazami et al., 2015).
For a general phenotypic description and discussion of genetic heterogeneity of OZEMA, see 615774.|OMIM|N|
C4225201|Hyperphosphatasia with impaired intellectual development syndrome-6 (HPMRS6) is an autosomal recessive multisystem disorder characterized by global developmental delay, dysmorphic features, seizures, and congenital cataracts. Severity is variable, and the disorder may show a range of phenotypic and biochemical abnormalities, including increased serum alkaline phosphatase levels (summary by Ilkovski et al., 2015). The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis.
For a discussion of genetic heterogeneity of HPMRS, see HPMRS1 (239300).
For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (610293).|OMIM|N|
C4225202|Lamb-Shaffer syndrome is a neurodevelopmental disorder characterized by global developmental delay, intellectual disability, poor expressive speech, and mild dysmorphic facial features. Additional variable skeletal abnormalities may also be present (summary by Nesbitt et al., 2015).|OMIM|N|
C4225203|UNC80 deficiency is characterized by hypotonia, strabismus, oral motor dysfunction, postnatal growth deficiency, and developmental delay. The majority of individuals do not learn to walk. All individuals lack expressive language; however, many have expressive body language, and a few have used signs to communicate. Seizures may develop during infancy or childhood. Additional features can include nystagmus, extremity hypertonia, a high-pitched cry, repetitive and self-stimulatory behaviors, constipation, clubfeet, joint contractures, and scoliosis. For most individuals the UNC80 deficiency syndrome is not progressive. Individuals have slow acquisition of skills and do not have a loss of skills suggestive of neurodegeneration.|GeneReviews|N|
C4225205|Spinocerebellar ataxia-42 (SCA42) is an autosomal dominant neurologic disorder characterized predominantly by gait instability and additional cerebellar signs such as dysarthria, nystagmus, and saccadic pursuits. The age at onset and severity of the disorder is highly variable. The disorder is slowly progressive (Coutelier et al., 2015).
For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (164400).|OMIM|N|
C4225208|Impaired intellectual development and distinctive facial features with or without cardiac defects (MRFACD) is an autosomal dominant, complex syndromic neurodevelopmental disorder characterized by delayed psychomotor development, poor speech acquisition, distinctive dysmorphic facial features, including frontal bossing, upslanting palpebral fissures, depressed nasal bridge with bulbous tip, and macrostomia. There is variable penetrance of cardiac malformations, ranging from no malformations to patent foramen ovale to septal defects and/or transposition of the great arteries (summary by Adegbola et al., 2015).|OMIM|N|
C4225209|Any cleft lip/palate in which the cause of the disease is a mutation in the DLX4 gene.|MONDO|N|
C4225210|Any inherited oocyte maturation defect in which the cause of the disease is a mutation in the TUBB8 gene.|MONDO|N|
C4225211|HTRA1 disorder is a phenotypic spectrum in which some individuals have few to no symptoms and others manifest with the more severe CARASIL (cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy) phenotype. Those who have a heterozygous HTRA1 pathogenic variant may have mild neurologic findings (sometimes identified only on neuroimaging) or mild-to-moderate neurologic signs and symptoms of CARASIL. In this chapter, the term "classic CARASIL" refers to the more severe phenotype associated with biallelic pathogenic variants, and "HTRA1 cerebral small vessel disease" (HTRA1-CSVD) refers to the milder phenotype associated with a heterozygous HTRA1 pathogenic variant. Classic CARASIL is characterized by early-onset changes in the deep white matter of the brain observed on MRI, and associated neurologic findings. The most frequent initial symptom is gait disturbance from spasticity beginning between ages 20 and 40 years. Forty-four percent of affected individuals have stroke-like episodes before age 40 years. Mood changes (apathy and irritability), pseudobulbar palsy, and cognitive dysfunction begin between ages 20 and 50 years. The disease progresses slowly following the onset of neurologic symptoms. Scalp alopecia and acute mid- to lower-back pain (lumbago) before age 30 years are characteristic. The most frequent initial symptom in individuals with HTRA1-CSVD is slowly progressive gait disturbance after age 40 years, which may be followed by the development of mood changes and cognitive dysfunction. A majority of affected individuals have a stroke-like episode after age 40 years. Spondylosis and alopecia are seen in a minority of individuals with HTRA1-CSVD.|GeneReviews|N|
C4225212|Any Seckel syndrome in which the cause of the disease is a mutation in the TRAIP gene.|MONDO|N|
C4225214|Any wooly hair in which the cause of the disease is a mutation in the KRT25 gene.|MONDO|N|
C4225215|Spastic paraplegia and psychomotor retardation with or without seizures is an autosomal recessive complex neurodevelopmental disorder with onset in infancy. Affected children show hypotonia followed by severely impaired global development and significant motor disability. Most develop seizures in childhood and have speech delay. Other features, such as ocular abnormalities, foot deformities, hypoplasia of the corpus callosum, and decreased white matter, are more variable (summary by Hollstein et al., 2015).|OMIM|N|
C4225217|Autosomal visceral heterotaxy-7 is an autosomal recessive developmental disorder characterized by complex congenital heart malformations and/or situs inversus and caused by defects in the normal left-right asymmetric positioning of internal organs. The phenotype is variable (summary by Guimier et al., 2015).
For a discussion of the genetic heterogeneity of visceral heterotaxy, see HTX1 (306955).|OMIM|N|
C4225218|Familial Behcet-like autoinflammatory syndrome-1 (AIFBL1) is an autosomal dominant monogenic autoinflammatory disease characterized predominantly by painful and recurrent mucosal ulceration affecting the oral mucosa, gastrointestinal tract, and genital areas. The onset of symptoms is usually in the first decade, although later onset has been reported. Additional more variable features include skin rash, uveitis, and polyarthritis, consistent with a systemic hyperinflammatory state. Many patients have evidence of autoimmune disease. Rare patients may also have concurrent features of immunodeficiency, including recurrent infections with low numbers of certain white blood cells or impaired function of immune cells. The disorder results from a failure of mutant TNFAIP3 to suppress the activation of inflammatory cytokines in the NFKB (see 164011) signaling pathway; treatment with tumor necrosis factor (TNFA; 191160) inhibitors may be beneficial. Although some of the clinical features of AIFBL1 resemble those of Behcet disease (109650), the more common form of Behcet disease is believed to be polygenic, typically shows later onset in early adulthood, and has symptoms usually restricted to the mucosa (summary by Zhou et al., 2016; Aeschlimann et al., 2018, and Kadowaki et al., 2018).
Genetic Heterogeneity of AIFBL
See also AIFBL2 (301074), caused by mutation in the ELF4 gene (300775) on chromosome Xq26, and AIFBL3 (618287), caused by mutation in the RELA gene (164014) on chromosome 11q13.|OMIM|N|
C4225220|Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the HNMT gene.|MONDO|N|
C4225221|Radioulnar synostosis with amegakaryocytic thrombocytopenia (RUSAT) is characterized by thrombocytopenia that progresses to pancytopenia, in association with congenital proximal fusion of the radius and ulna that results in extremely limited pronation and supination of the forearm (summary by Niihori et al., 2015).
For a discussion of genetic heterogeneity of radioulnar synostosis with amegakaryocytic thrombocytopenia, see RUSAT1 (605432).|OMIM|N|
C4225222|Takenouchi-Kosaki syndrome is a highly heterogeneous autosomal dominant complex congenital developmental disorder affecting multiple organ systems. The core phenotype includes delayed psychomotor development with variable intellectual disability, dysmorphic facial features, and cardiac, genitourinary, and hematologic or lymphatic defects, including thrombocytopenia and lymphedema. Additional features may include abnormalities on brain imaging, skeletal anomalies, and recurrent infections. Some patients have a milder disease course reminiscent of Noonan syndrome (see, e.g., NS1, 163950) (summary by Martinelli et al., 2018).|OMIM|N|
C4225223|Hereditary essential tremor-5 is an autosomal dominant neurologic disorder characterized by kinetic, intention, and/or postural tremor mainly affecting the upper limbs. The age at onset and severity are highly variable, even within families (summary by Hor et al., 2015).
For a general phenotypic description and a discussion of genetic heterogeneity of hereditary essential tremor, see ETM1 (190300).|OMIM|N|
C4225225|Congenital symmetric circumferential skin creases is characterized by the folding of excess skin, which leads to ringed creases, primarily of the limbs. Affected individuals also exhibit intellectual disability, cleft palate, and dysmorphic features (summary by Isrie et al., 2015).
For a discussion of genetic heterogeneity of congenital symmetric circumferential skin creases, see CSCSC1 (156610).|OMIM|N|
C4225226|Primary coenzyme Q10 (CoQ10) deficiency is usually associated with multisystem involvement, including neurologic manifestations such as fatal neonatal encephalopathy with hypotonia; a late-onset slowly progressive multiple-system atrophy-like phenotype (neurodegeneration with autonomic failure and various combinations of parkinsonism and cerebellar ataxia, and pyramidal dysfunction); and dystonia, spasticity, seizures, and intellectual disability. Steroid-resistant nephrotic syndrome (SRNS), the hallmark renal manifestation, is often the initial manifestation either as isolated renal involvement that progresses to end-stage renal disease (ESRD), or associated with encephalopathy (seizures, stroke-like episodes, severe neurologic impairment) resulting in early death. Hypertrophic cardiomyopathy (HCM), retinopathy or optic atrophy, and sensorineural hearing loss can also be seen.|GeneReviews|N|
C4225228|Nephrotic syndrome type 11 (NPHS11) is an autosomal recessive disorder of the kidney with onset in the first decade of life. The disorder is progressive and usually results in end-stage renal disease necessitating renal transplantation, although some patients may have a slightly milder phenotype (Miyake et al., 2015).
For a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome, see NPHS1 (256300).|OMIM|N|
C4225229|Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, axial hypotonia, palate abnormalities (including cleft palate and/or high and narrow palate), dysmorphic facial features (including prominent forehead, hypertelorism, downslanting palpebral fissures, wide nasal bridge, thin lips and widely spaced teeth), and short stature. Additional manifestations may include digital anomalies (such as brachydactyly, clinodactyly, and hypoplastic toenails), a single palmar crease, lower limb hypertonia, joint hypermobility, as well as ocular and urogenital anomalies.|ORDO|N|
C4225230|Primary ciliary dyskinesia-33 is an autosomal recessive disorder characterized by recurrent upper and lower respiratory infections due to defective ciliary clearance and resulting in chronic lung disease. Some patients may have recurrent ear infections resulting in conductive hearing impairment. Examination of respiratory cilia shows subtle movement defects. Laterality defects have not been reported (summary by Olbrich et al., 2015).
For a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400).|OMIM|N|
C4225231|Any tooth agenesis in which the cause of the disease is a mutation in the LRP6 gene.|MONDO|N|
C4225233|Retinal dystrophy and iris coloboma with or without cataract (RDICC) is characterized by early-onset chorioretinal dystrophy that is variably associated with other eye anomalies, including iris coloboma and/or congenital or early-onset cataract. Congenital glaucoma has also been observed (Conte et al., 2015; Jedlickova et al., 2023).|OMIM|N|
C4225234|Congenital disorder of glycosylation type IIn (CDG2N) is an autosomal recessive severe multisystem developmental disorder characterized by delayed psychomotor development apparent from infancy, hypotonia, and variable additional features, such as short stature, seizures, visual impairment, and cerebellar atrophy. Serum transferrin analysis shows a CDG type II pattern (summary by Boycott et al., 2015 and Park et al., 2015).
For a discussion of genetic heterogeneity of CDG type II, see CDG2A (212066).|OMIM|N|
C4225235|Congenital myasthenic syndrome-19 (CMS19) is an autosomal recessive disorder resulting from a defect in the neuromuscular junction, causing generalized muscle weakness, exercise intolerance, and respiratory insufficiency. Patients present with hypotonia, feeding difficulties, and respiratory problems soon after birth, but the severity of the weakness and disease course is variable (summary by Logan et al., 2015).
For a discussion of genetic heterogeneity of CMS, see CMS1A (601462).|OMIM|N|
C4225237|Rhizomelic chondrodysplasia punctata (RCDP) is a peroxisomal disorder characterized by disproportionately short stature primarily affecting the proximal parts of the extremities, a typical facial appearance including a broad nasal bridge, epicanthus, high-arched palate, dysplastic external ears, and micrognathia, congenital contractures, characteristic ocular involvement, dwarfism, and severe mental retardation with spasticity. Biochemically, plasmalogen synthesis and phytanic acid alpha-oxidation are defective. Most patients die in the first decade of life (summary by Wanders and Waterham, 2005).
For a discussion of genetic heterogeneity of rhizomelic chondrodysplasia punctata, see 215100.|OMIM|N|
C4225238|Any Parkinson disease in which the cause of the disease is a mutation in the CHCHD2 gene.|MONDO|N|
C4225239|A rare genetic syndromic intellectual disability characterised by several dysmorphic features, hypotonia, developmental delay, intellectual disability, behavioural problems, visual and hearing abnormalities, constipation, and feeding difficulties. Common dysmorphic features include coarse facies, broad forehead, synophrys, bushy eyebrows, deep-set eyes, downslanting palpebral fissures, epicanthus, depressed nasal bridge, bulbous nasal tip, posteriorly rotated ears, full cheeks, thin upper lip, inverted nipples and hirsutism. Behavioural problems tend to be dominated by attention deficit hyperactivity disorder, but anxiety, aggressive outbursts and autistic features may also present.|SNOMEDCT_US|N|
C4225240|Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the HOMER2 gene.|MONDO|N|
C4225241|Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the KITLG gene.|MONDO|N|
C4225242|In dehydrated hereditary stomatocytosis (DHS), also known as hereditary xerocytosis, red blood cells exhibit altered intracellular cation content and cellular dehydration, resulting in increased erythrocyte mean corpuscular hemoglobin concentration (MCHC) and decreased erythrocyte osmotic fragility. Blood films show various cell shape abnormalities, the most characteristic being the stomatocyte, with a straight or crescent-shaped central pallor (summary by Rapetti-Mauss et al., 2015).
For discussion of clinical and genetic heterogeneity of the stomatocytoses, see DHS1 (194380).|OMIM|N|
C4225246|Charcot-Marie-Tooth disease type 4K is an autosomal recessive demyelinating peripheral neuropathy characterized by onset in the first decade of distal muscle weakness and atrophy associated with impaired distal sensation. Both upper and lower limbs are affected. Affected individuals may also have nystagmus and late-onset cerebellar ataxia. Laboratory studies show increased serum lactate and isolated mitochondrial complex IV deficiency (summary by Echaniz-Laguna et al., 2013).
For a phenotypic description and a discussion of genetic heterogeneity of autosomal recessive demyelinating Charcot-Marie-Tooth disease, see CMT4A (214400).|OMIM|N|
C4225247|Hypomyelinating leukodystrophy-12 (HLD12) is an autosomal recessive neurologic disorder characterized by severely delayed or even lack of psychomotor development that becomes apparent in the first months of life. Patients are markedly disabled, with acquired microcephaly, lack of speech, and often lack of spontaneous movement due to hypotonia and spasticity. Brain imaging shows delayed myelination (summary by Edvardson et al., 2015).
For a general phenotypic description and a discussion of genetic heterogeneity of HLD, see 312080.
In a review of the pathogenesis of disorders with prominent dystonia or opisthotonic posturing as a feature, Monfrini et al. (2021) classified HLD12 as belonging to a group of neurologic disorders termed 'HOPS-associated neurologic disorders (HOPSANDs), which are caused by mutations in genes encoding various components of the autophagic/endolysosomal system, including VPS11.|OMIM|N|
C4225248|Seizures, scoliosis, and macrocephaly/microcephaly syndrome (SSMS) is an autosomal recessive neurodevelopmental disorder characterized by global developmental delay apparent from early infancy, impaired intellectual development, behavioral problems, poor or absent speech, seizures, dysmorphic facial features with macro- or microcephaly, and skeletal abnormalities, including scoliosis and delayed bone age. Other features may include hypotonia, gastrointestinal problems, and exostoses (summary by Gentile et al., 2019).|OMIM|N|
C4225250|Spastic paraplegia-75 (SPG75) is an autosomal recessive, slowly progressive neurodegenerative disorder characterized by onset of spastic paraplegia and cognitive impairment in childhood (summary by Lossos et al., 2015).
For a discussion of genetic heterogeneity of autosomal recessive SPG, see SPG5A (270800).|OMIM|N|
C4225252|Immunodeficiency-45 (IMD45) is an autosomal recessive immunologic disorder with specific clinical features. Patients may present with life-threatening respiratory infections with COVID-19 or influenza and with severe adverse reactions (e.g., meningoencephalitis and hemophagocytic lymphohistiocytosis) to live attenuated viral vaccination. Laboratory studies show impaired response to alpha-interferon (see 147660), impaired type I interferon signature after stimulation, and heightened vulnerability to multiple viruses in vitro (summary by Duncan et al., 2015; Passarelli et al., 2020; Duncan et al., 2022).|OMIM|N|
C4225254|Spastic tetraplegia, thin corpus callosum, and progressive microcephaly is an autosomal recessive neurodevelopmental disorder characterized by onset of those features and severely impaired global development in early infancy. Most patients are unable to achieve independent walking or speech; some patients have seizures (summary by Srour et al., 2015 and Heimer et al., 2015).|OMIM|N|
C4225255|Yuan-Harel-Lupski syndrome is a complex neurodevelopmental disorder characterized by global developmental delay and early-onset peripheral neuropathy. The disorder comprises features of both demyelinating Charcot-Marie-Tooth disease type 1A (CMT1A; 118220), which results from duplication of the PMP22 gene on 17p12, and Potocki-Lupski syndrome (PTLS; 610883), which results from duplication of a slightly proximal region on 17p11.2 that includes the RAI1 gene. These 2 loci are about 2.5 Mb apart. The resultant YUHAL phenotype may be more severe in comparison to the individual contributions of each gene, with particularly early onset of peripheral neuropathy and features of both central and peripheral nervous system involvement (summary by Yuan et al., 2015).|OMIM|N|
C4225256|Developmental and epileptic encephalopathy-35 (DEE35) is an autosomal recessive neurodegenerative disorder characterized by onset of seizures in the first months of life associated with essentially no normal development. Brain imaging shows a characteristic pattern consistent with lack of myelination of early structures, including the posterior limb of the internal capsule, brainstem tracts, and tracts to the primary visual and motor cortices. Many patients die in early childhood (summary by Kevelam et al., 2015)
For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350.|OMIM|N|
C4225257|SLC12A5-related epilepsy of infancy with migrating focal seizures (SLC12A5-EIMFS), reported to date in nine children, is characterized by onset of seizures before age six months and either developmental delay or developmental regression with seizure onset. Of these nine children, six had severe developmental delay with no progress of abilities and three made notable neurodevelopmental progress. Eight had postnatal microcephaly and hypotonia. In most children epilepsy begins as focal motor seizures (typically involving head and eye deviation) that become multifocal and intractable to conventional anti-seizure medication (ASM).|GeneReviews|N|
C4225258|Progressive myoclonic epilepsy-10 (EPM10) is an autosomal recessive neurodegenerative disorder characterized by onset of progressive myoclonus, ataxia, spasticity, dysarthria, and cognitive decline in the first decade of life. The severity is variable, but some patients may become mute and bedridden with psychosis (summary by Turnbull et al., 2012).
For a general phenotypic description and a discussion of genetic heterogeneity of progressive myoclonic epilepsy, see EPM1A (254800).|OMIM|N|
C4225259|Smith-Kingsmore syndrome (SKS) is a rare autosomal dominant syndromic intellectual disability syndrome characterized by macrocephaly, seizures, umbilical hernia, and facial dysmorphic features including frontal bossing, midface hypoplasia, small chin, hypertelorism with downslanting palpebral fissures, depressed nasal bridge, smooth philtrum, and thin upper lip (Smith et al., 2013; Baynam et al., 2015).|OMIM|N|
C4225260|Immunodeficiency-44 (IMD44) is an autosomal recessive primary immunodeficiency characterized by increased susceptibility to viral infections and adverse multisystemic reaction to vaccination in some patients. Affected individuals appear to have defects in mitochondrial fission and fusion (summary by Shahni et al., 2015).|OMIM|N|
C4225262|Porokeratosis is a rare skin disorder characterized by one or more annular plaques with a surrounding raised horny border that spreads centrifugally. Variants of porokeratosis have been described that differ in morphologic shapes, distribution, and clinical course (Schamroth et al., 1997). However, as noted by Sybert (2010), several families with expression of more than one variant of porokeratosis among members, and individuals expressing more than one variant, have been reported, suggesting that the distinctions among these variants may be artificial.
Mutations in the FDPS gene have been found to cause multiple types of porokeratosis, which have been described as disseminated superficial actinic porokeratosis (DSAP) and nonactinic disseminated superficial porokeratosis (DSP).
For a discussion of genetic heterogeneity of porokeratosis, see 174800.|OMIM|N|
C4225263|Senior-Loken syndrome-9 is an autosomal recessive disorder characterized by early-onset nephronophthisis and pigmentary retinopathy. Additional more variable features can include liver defects, skeletal anomalies, and obesity (summary by Bizet et al., 2015).
For a phenotypic description and a discussion of genetic heterogeneity of Senior-Loken syndrome, see 266900.|OMIM|N|
C4225267|Heimler syndrome, which represents the mildest end of the peroxisomal biogenesis disorder spectrum (see PBD1A, 214100), is a rare autosomal recessive disorder characterized by sensorineural hearing loss, enamel hypoplasia of the secondary dentition, and nail abnormalities (Ratbi et al., 2015).
For a discussion of genetic heterogeneity of Heimler syndrome, see HMLR1 (234580).|OMIM|N|
C4225268|Autosomal dominant cutis laxa-3 is characterized by thin skin with visible veins and wrinkles, cataract or corneal clouding, clenched fingers, pre- and postnatal growth retardation, and moderate intellectual disability. In addition, patients exhibit a combination of muscular hypotonia with brisk muscle reflexes (Fischer-Zirnsak et al., 2015).
For a general phenotypic description and discussion of genetic heterogeneity of autosomal dominant cutis laxa, see ARCL1 (123700).|OMIM|N|
C4225269|Craniosynostosis is a primary abnormality of skull growth involving premature fusion of the cranial sutures such that the growth velocity of the skull often cannot match that of the developing brain. This produces skull deformity and, in some cases, raises intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability (summary by Fitzpatrick, 2013). Craniosynostosis-6 is a bicoronal form associated with bony defects in the sagittal, metopic, or lambdoid sutures (Twigg et al., 2015).
For a discussion of genetic heterogeneity of craniosynostosis, see CRS1 (123100).
Structural brain anomalies with impaired intellectual development and craniosynostosis (BAIDCS; 618736) is an allelic disorder.|OMIM|N|
C4225270|Kosaki overgrowth syndrome (KOGS) is characterized by a facial gestalt involving prominent forehead, proptosis, downslanting palpebral fissures, broad nasal bridge, thin upper lip, and pointed chin. Affected individuals are tall, with an elongated lower segment, and have large hands and feet. Skin is hyperelastic and fragile. Patients exhibit progressive dilatory and vascular changes in basilar/vertebral and coronary arteries starting in the teenage years (Takenouchi et al., 2015; Takenouchi et al., 2021).|OMIM|N|
C4225271|Adams-Oliver syndrome (AOS) is characterized by aplasia cutis congenita (ACC) of the scalp and terminal transverse limb defects (TTLD). ACC lesions usually occur in the midline of the parietal or occipital regions, but can also occur on the abdomen or limbs. At birth, an ACC lesion may already have the appearance of a healed scar. ACC lesions less than 5 cm often involve only the skin and almost always heal over a period of months; larger lesions are more likely to involve the skull and possibly the dura, and are at greater risk for complications, which can include infection, hemorrhage, or thrombosis, and can result in death. The limb defects range from mild (unilateral or bilateral short distal phalanges) to severe (complete absence of all toes or fingers, feet or hands, or more, often resembling an amputation). The lower extremities are almost always more severely affected than the upper extremities. Additional major features frequently include cardiovascular malformations/dysfunction (23%), brain anomalies, and less frequently renal, liver, and eye anomalies.|GeneReviews|N|
C4225273|Spondyloepiphyseal dysplasia with accumulation of glycoprotein in chondrocytes has been designated the 'Stanescu type.' Clinical hallmarks include progressive joint contracture with premature degenerative joint disease, particularly in the knee, hip, and finger joints. Interphalangeal joints of the hands are swollen due to osseous distention of the metaphyseal ends of the phalanges. Affected individuals may be relatively tall despite the presence of a short trunk. Radiologically, there is generalized platyspondyly with mild modification of the endplates, hypoplastic pelvis, epiphyseal flattening with metaphyseal splaying of the long bones, and enlarged phalangeal epimetaphyses of the hands. In addition, the proximal femora are characteristically broad and elongated with striking coxa valga (summary by Nishimura et al., 1998).|OMIM|N|
C4225274|Au-Kline syndrome is characterized by developmental delay and hypotonia with moderate-to-severe intellectual disability, and typical facial features that include long palpebral fissures, ptosis, shallow orbits, large and deeply grooved tongue, broad nose with a wide nasal bridge, and downturned mouth. There is frequently variable autonomic dysfunction (gastrointestinal dysmotility, high pain threshold, heat intolerance, recurrent fevers, abnormal sweating). Congenital heart disease, hydronephrosis, palate abnormalities, and oligodontia are also reported in the majority of affected individuals. Additional complications can include craniosynostosis, feeding difficulty, vision issues, osteopenia, and other skeletal anomalies.|GeneReviews|N|
C4225275|An autosomal dominant condition caused by mutation(s) in the CHAMP1 gene, encoding chromosome alignment-maintaining phosphoprotein 1. It is characterized by moderate to severe intellectual disability with poor speech acquisition. Variable dysmorphic features may be present as well.|NCI|N|
C4225276|Neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities (NEDHSB) is an autosomal recessive disorder characterized by severe neurologic impairment including impaired intellectual development, epilepsy, microcephaly, abnormal muscle tone, and sensorineural hearing loss. Most affected individuals are nonambulatory, cannot sit unassisted, and have no speech development. More variable features include feeding difficulties, poor growth, cortical visual impairment, spasticity, scoliosis, immunodeficiency, and thrombocytopenia (Tanaka et al., 2015).|OMIM|N|
C4225277|Common variable immunodeficiency-12 with autoimmunity (CVID12) is an autosomal dominant complex immunologic disorder with multisystem involvement. CVID12 is mainly a primary immunodeficiency characterized by recurrent infections and associated with hypogammaglobulinemia. Notably, about half of patients develop autoimmune features, including cytopenia, as well as generalized inflammation and lymphoproliferation manifest as lymphadenopathy or hepatosplenomegaly. A smaller percentage of affected individuals (less than 20%) develop cancer, most commonly solid tumors, including lymphoma. Age at onset and disease severity are highly variable, even within the same family. There is also incomplete penetrance, such that mutation carriers may be asymptomatic, even if they have hypogammaglobulinemia. The gene involved, NFKB1, encodes a transcription factor that regulates the expression of target genes involved in the immune system, thus defining the phenotype as a disorder of immune dysregulation (summary by Fliegauf et al., 2015; Lorenzini et al., 2020).
For a general description and a discussion of genetic heterogeneity of common variable immunodeficiency, see CVID1 (607594).|OMIM|N|
C4225278|POT1 tumor predisposition (POT1-TPD) is characterized by an increased lifetime risk for multiple cutaneous melanomas, chronic lymphocytic leukemia (CLL), angiosarcoma (particularly cardiac angiosarcomas), and gliomas. Additional cancers (e.g., colorectal cancer, thyroid cancer, breast angiosarcomas) have been reported in individuals with POT1-TPD but with very limited evidence. The age of onset for first primary cutaneous melanoma ranges from 15 to 80 years. The majority of POT1 associated cancers are diagnosed in adulthood.|GeneReviews|N|
C4225279|Spondylocostal dysostosis (SCDO), defined radiographically as multiple segmentation defects of the vertebrae (M-SDV) in combination with abnormalities of the ribs, is characterized clinically by: a short trunk in proportion to height; short neck; non-progressive mild scoliosis in most affected individuals, and occasionally, more significant scoliosis. Respiratory function in neonates may be compromised by reduced size of the thorax. By age two years lung growth may improve sufficiently to support relatively normal growth and development; however, even then life-threatening complications can occur, especially pulmonary hypertension in children with severely restricted lung capacity from birth. Males with SCDO appear to be at increased risk for inguinal hernia.|GeneReviews|N|
C4225280|Noonan syndrome (NS) is characterized by characteristic facies, short stature, congenital heart defect, and developmental delay of variable degree. Other findings can include broad or webbed neck, unusual chest shape with superior pectus carinatum and inferior pectus excavatum, cryptorchidism, varied coagulation defects, lymphatic dysplasias, and ocular abnormalities. Although birth length is usually normal, final adult height approaches the lower limit of normal. Congenital heart disease occurs in 50%-80% of individuals. Pulmonary valve stenosis, often with dysplasia, is the most common heart defect and is found in 20%-50% of individuals. Hypertrophic cardiomyopathy, found in 20%-30% of individuals, may be present at birth or develop in infancy or childhood. Other structural defects include atrial and ventricular septal defects, branch pulmonary artery stenosis, and tetralogy of Fallot. Up to one fourth of affected individuals have mild intellectual disability, and language impairments in general are more common in NS than in the general population.|GeneReviews|N|
C4225281|Any retinitis pigmentosa in which the cause of the disease is a mutation in the BBS2 gene.|MONDO|N|
C4225282|Noonan syndrome (NS) is characterized by characteristic facies, short stature, congenital heart defect, and developmental delay of variable degree. Other findings can include broad or webbed neck, unusual chest shape with superior pectus carinatum and inferior pectus excavatum, cryptorchidism, varied coagulation defects, lymphatic dysplasias, and ocular abnormalities. Although birth length is usually normal, final adult height approaches the lower limit of normal. Congenital heart disease occurs in 50%-80% of individuals. Pulmonary valve stenosis, often with dysplasia, is the most common heart defect and is found in 20%-50% of individuals. Hypertrophic cardiomyopathy, found in 20%-30% of individuals, may be present at birth or develop in infancy or childhood. Other structural defects include atrial and ventricular septal defects, branch pulmonary artery stenosis, and tetralogy of Fallot. Up to one fourth of affected individuals have mild intellectual disability, and language impairments in general are more common in NS than in the general population.|GeneReviews|N|
C4225284|Dyskeratosis congenita and related telomere biology disorders (DC/TBD) are caused by impaired telomere maintenance resulting in short or very short telomeres. The phenotypic spectrum of telomere biology disorders is broad and includes individuals with classic dyskeratosis congenita (DC) as well as those with very short telomeres and an isolated physical finding. Classic DC is characterized by a triad of dysplastic nails, lacy reticular pigmentation of the upper chest and/or neck, and oral leukoplakia, although this may not be present in all individuals. People with DC/TBD are at increased risk for progressive bone marrow failure (BMF), myelodysplastic syndrome or acute myelogenous leukemia, solid tumors (usually squamous cell carcinoma of the head/neck or anogenital cancer), and pulmonary fibrosis. Other findings can include eye abnormalities (epiphora, blepharitis, sparse eyelashes, ectropion, entropion, trichiasis), taurodontism, liver disease, gastrointestinal telangiectasias, and avascular necrosis of the hips or shoulders. Although most persons with DC/TBD have normal psychomotor development and normal neurologic function, significant developmental delay is present in both forms; additional findings include cerebellar hypoplasia (Hoyeraal Hreidarsson syndrome) and bilateral exudative retinopathy and intracranial calcifications (Revesz syndrome and Coats plus syndrome). Onset and progression of manifestations of DC/TBD vary: at the mild end of the spectrum are those who have only minimal physical findings with normal bone marrow function, and at the severe end are those who have the diagnostic triad and early-onset BMF.|GeneReviews|N|
C4225285|Klippel-Feil syndrome-4 with nemaline myopathy and facial dysmorphism (KFS4) is an autosomal recessive disorder characterized mainly by severe hypotonia apparent from infancy. Klippel-Feil anomaly is primarily defined by fusion of the cervical spine, with associated low posterior hairline and limited neck mobility being observed in about half of patients (summary by Alazami et al., 2015).
For a general description and a discussion of genetic heterogeneity of Klippel-Feil syndrome, see KFS1 (118100).|OMIM|N|
C4225286|Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013).
There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, 218330).
For a discussion of genetic heterogeneity of short-rib thoracic dysplasia with or without polydactyly, see SRTD1 (208500).|OMIM|N|
C4225287|Any retinitis pigmentosa in which the cause of the disease is a mutation in the HGSNAT gene.|MONDO|N|
C4225288|In patients with SSMED, short stature and microcephaly are apparent at birth, and there is progressive postnatal growth failure. Endocrine dysfunction, including hypergonadotropic hypogonadism, multinodular goiter, and diabetes mellitus, is present in affected adults. Progressive ataxia has been reported in some patients, with onset ranging from the second to fifth decade of life. In addition, a few patients have developed tumors, suggesting that there may be a predisposition to tumorigenesis. In contrast to syndromes involving defects in other components of the nonhomologous end-joining (NHEJ) complex (see, e.g., 606593), no clinically overt immunodeficiency has been observed in SSMED, although laboratory analysis has revealed lymphopenia or borderline leukopenia in some patients (Murray et al., 2015; Bee et al., 2015; de Bruin et al., 2015; Guo et al., 2015).|OMIM|N|
C4225289|A rare genetic neurological disorder with characteristics of childhood-onset severe myoclonic and tonic-clonic seizures and early-onset ataxia leading to severe gait disturbances associated with normal to slightly diminished cognition. Scoliosis, diffuse muscle atrophy and subcutaneous fat loss, as well as developmental delay, may be associated. Brain MRI may reveal complete agenesis of the corpus callosum, ventriculomegaly, interhemispheric cysts and simplified gyration (frontally).|SNOMEDCT_US|N|
C4225291|Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, and congenital muscular dystrophy. The phenotype includes the alternative clinical designation Walker-Warburg syndrome (WWS), which is associated with death in infancy. The disorder represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1), collectively known as 'dystroglycanopathies' (summary by Geis et al., 2013 and Riemersma et al., 2015).
For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (236670).|OMIM|N|
C4225292|Nonmedullary thyroid cancer (NMTC) comprises cancer of follicular cell origin and accounts for more than 95% of all cases of thyroid cancer. Familial NMTC accounts for 3 to 9% of all cases of thyroid cancer and has an autosomal dominant mode of inheritance. Most cases of familial NMTC are papillary thyroid cancer (PTC), which is the most common type of thyroid cancer (summary by Gara et al., 2015).
For a general phenotypic description and a discussion of genetic heterogeneity of NMTC, see NMTC1 (188550).|OMIM|N|
C4225293|Nonmedullary thyroid cancer (NMTC) refers to neoplasms originating from the thyroid follicular cells and represents 80 to 95% of all thyroid cancers. Approximately 5% of NMTC occurs on the background of a familial predisposition. Although papillary thyroid carcinoma (PTC) is usually the most frequent thyroid lesion in NMTC families, multinodular goiter (MNG) and follicular thyroid adenoma also occur (summary by Pereira et al., 2015).
For a general phenotypic description and a discussion of genetic heterogeneity of NMTC, see NMTC1 (188550).|OMIM|N|
C4225294|A Mendelian susceptibility or predisposition to herpes simplex infection induced encephalitis in which the cause of the diseas is a mutation in the IRF3 gene.|MONDO|N|
C4225295|PI4KA-related disorder is a clinically variable disorder characterized primarily by neurologic dysfunction (limb spasticity, developmental delay, intellectual disability, seizures, ataxia, nystagmus), gastrointestinal manifestations (multiple intestinal atresia, inflammatory bowel disease), and combined immunodeficiency (leukopenia, variable immunoglobulin defects). Age of onset is typically antenatal or in early childhood; individuals can present with any combination of these features. Rare individuals present with later-onset hereditary spastic paraplegia. Brain MRI findings can include hypomyelinating leukodystrophy, cerebellar hypoplasia/atrophy, thin or dysplastic corpus callosum, and/or perisylvian polymicrogyria.|GeneReviews|N|
C4225296|An autosomal dominant condition caused by mutation(s) in the MYT1L gene, encoding myelin transcription factor 1-like protein. It is characterized by intellectual disability and mild dysmorphic facial features.|NCI|N|
C4225297|Achromatopsia is characterized by reduced visual acuity, pendular nystagmus, increased sensitivity to light (photophobia), a small central scotoma, eccentric fixation, and reduced or complete loss of color discrimination. All individuals with achromatopsia (achromats) have impaired color discrimination along all three axes of color vision corresponding to the three cone classes: the protan or long-wavelength-sensitive cone axis (red), the deutan or middle-wavelength-sensitive cone axis (green), and the tritan or short-wavelength-sensitive cone axis (blue). Most individuals have complete achromatopsia, with total lack of function of all three types of cones. Rarely, individuals have incomplete achromatopsia, in which one or more cone types may be partially functioning. The manifestations are similar to those of individuals with complete achromatopsia, but generally less severe. Hyperopia is common in achromatopsia. Nystagmus develops during the first few weeks after birth followed by increased sensitivity to bright light. Best visual acuity varies with severity of the disease; it is 20/200 or less in complete achromatopsia and may be as high as 20/80 in incomplete achromatopsia. Visual acuity is usually stable over time; both nystagmus and sensitivity to bright light may improve slightly. Although the fundus is usually normal, macular changes (which may show early signs of progression) and vessel narrowing may be present in some affected individuals. Defects in the macula are visible on optical coherence tomography.|GeneReviews|N|
C4225298|Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the RIPOR2 gene.|MONDO|N|
C4225299|RCAD is associated with a combination of diabetes and kidney or urinary tract abnormalities (unrelated to the elevated blood glucose), most commonly fluid-filled sacs (cysts) in the kidneys. However, the signs and symptoms are variable, even within families, and not everyone with RCAD has both features. Affected individuals may have other features unrelated to diabetes, such as abnormalities of the pancreas or liver or a form of arthritis called gout.\n\nGCK-MODY is a very mild type of the condition. People with this type have slightly elevated blood glucose levels, particularly in the morning before eating (fasting blood glucose). However, affected individuals often have no symptoms related to the disorder, and diabetes-related complications are extremely rare.\n\nHNF1A-MODY and HNF4A-MODY have similar signs and symptoms that develop slowly over time. Early signs and symptoms in these types are caused by high blood glucose and may include frequent urination (polyuria), excessive thirst (polydipsia), fatigue, blurred vision, weight loss, and recurrent skin infections. Over time uncontrolled high blood glucose can damage small blood vessels in the eyes and kidneys. Damage to the light-sensitive tissue at the back of the eye (the retina) causes a condition known as diabetic retinopathy that can lead to vision loss and eventual blindness. Kidney damage (diabetic nephropathy) can lead to kidney failure and end-stage renal disease (ESRD). While these two types of MODY are very similar, certain features are particular to each type. For example, babies with HNF4A-MODY tend to weigh more than average or have abnormally low blood glucose at birth, even though other signs of the condition do not occur until childhood or young adulthood. People with HNF1A-MODY have a higher-than-average risk of developing noncancerous (benign) liver tumors known as hepatocellular adenomas.\n\nThe different types of MODY are distinguished by their genetic causes. The most common types are HNF1A-MODY (also known as MODY3), accounting for 50 to 70 percent of cases, and GCK-MODY (MODY2), accounting for 30 to 50 percent of cases. Less frequent types include HNF4A-MODY (MODY1) and renal cysts and diabetes (RCAD) syndrome (also known as HNF1B-MODY or MODY5), which each account for 5 to 10 percent of cases. At least ten other types have been identified, and these are very rare.\n\nMaturity-onset diabetes of the young (MODY) is a group of several conditions characterized by abnormally high levels of blood glucose, also called blood sugar. These forms of diabetes typically begin before age 30, although they can occur later in life. In MODY, elevated blood glucose arises from reduced production of insulin, which is a hormone produced in the pancreas that helps regulate blood glucose levels. Specifically, insulin controls how much glucose (a type of sugar) is passed from the blood into cells, where it is used as an energy source.|MedlinePlus Genetics|N|
C4225300|Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the LSS gene.|MONDO|N|
C4225301|Osteogenesis imperfecta (OI) is a group of genetic disorders that mainly affect the bones. The term "osteogenesis imperfecta" means imperfect bone formation. People with this condition have bones that break (fracture) easily, often from mild trauma or with no apparent cause. Multiple fractures are common, and in severe cases, can occur even before birth. Milder cases may involve only a few fractures over a person's lifetime.\n\nThere are at least 19 recognized forms of osteogenesis imperfecta, designated type I through type XIX. Several types are distinguished by their signs and symptoms, although their characteristic features overlap. Increasingly, genetic causes are used to define rarer forms of osteogenesis imperfecta. Type I (also known as classic non-deforming osteogenesis imperfecta with blue sclerae) is the mildest form of osteogenesis imperfecta. Type II (also known as perinatally lethal osteogenesis imperfecta) is the most severe. Other types of this condition, including types III (progressively deforming osteogenesis imperfecta) and IV (common variable osteogenesis imperfecta with normal sclerae), have signs and symptoms that fall somewhere between these two extremes.\n\nOther types of osteogenesis imperfecta are more severe, causing frequent bone fractures that are present at birth and result from little or no trauma. Additional features of these types can include blue sclerae of the eyes, short stature, curvature of the spine (scoliosis), joint deformities (contractures), hearing loss, respiratory problems, and a disorder of tooth development called dentinogenesis imperfecta. Mobility can be reduced in affected individuals, and some may use a walker or wheelchair. The most severe forms of osteogenesis imperfecta, particularly type II, can include an abnormally small, fragile rib cage and underdeveloped lungs. Infants with these abnormalities may have life-threatening problems with breathing and can die shortly after birth.\n\nThe milder forms of osteogenesis imperfecta, including type I, are characterized by bone fractures during childhood and adolescence that often result from minor trauma, such as falling while learning to walk. Fractures occur less frequently in adulthood. People with mild forms of the condition typically have a blue or grey tint to the part of the eye that is usually white (the sclera), and about half develop hearing loss in adulthood. Unlike more severely affected individuals, people with type I are usually of normal or near normal height.|MedlinePlus Genetics|N|
C4225302|Hereditary motor and sensory neuropathy type VIB is an autosomal recessive complex progressive neurologic disorder characterized mainly by early-onset optic atrophy resulting in progressive visual loss and peripheral axonal sensorimotor neuropathy with highly variable age at onset and severity. Affected individuals may also have cerebellar or pontocerebellar atrophy on brain imaging, and they may show abnormal movements such as ataxia, dysmetria, and myoclonus (summary by Abrams et al., 2015).
For a general phenotypic description and a discussion of genetic heterogeneity of HMSN6, see HMSN6A (601152).|OMIM|N|
C4225303|Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the ADGRG6 gene.|MONDO|N|
C4225304|Mitochondrial complex IV deficiency nuclear type 13 (MC4DN13) is an autosomal recessive metabolic disorder characterized by the onset of hypertrophic cardiomyopathy soon after birth. Affected individuals have hypotonia, weakness, and failure to thrive, resulting in death in infancy. Laboratory studies show increased serum lactate and decreased levels and activity of mitochondrial respiratory complex IV (summary by Baertling et al., 2015).
For a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see 220110.|OMIM|N|
C4225305|POLR3-related leukodystrophy, a hypomyelinating leukodystrophy with specific features on brain MRI, is characterized by varying combinations of four major clinical findings: Neurologic dysfunction, typically predominated by motor dysfunction (progressive cerebellar dysfunction, and to a lesser extent extrapyramidal [i.e., dystonia], pyramidal [i.e., spasticity] and cognitive dysfunctions). Abnormal dentition (delayed dentition, hypodontia, oligodontia, and abnormally placed or shaped teeth). Endocrine abnormalities such as short stature (in ~50% of individuals) with or without growth hormone deficiency, and more commonly, hypogonadotropic hypogonadism manifesting as delayed, arrested, or absent puberty. Ocular abnormality in the form of myopia, typically progressing over several years and becoming severe. POLR3-related leukodystrophy and 4H leukodystrophy are the two recognized terms for five previously described overlapping clinical phenotypes (initially described as distinct entities before their molecular basis was known). These include: Hypomyelination, hypodontia, hypogonadotropic hypogonadism (4H syndrome); Ataxia, delayed dentition, and hypomyelination (ADDH); Tremor-ataxia with central hypomyelination (TACH); Leukodystrophy with oligodontia (LO); Hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum (HCAHC). Age of onset is typically in early childhood but later-onset cases have also been reported. An infant with Wiedemann-Rautenstrauch syndrome (neonatal progeroid syndrome) was recently reported to have pathogenic variants in POLR3A on exome sequencing. Confirmation of this as a very severe form of POLR3-related leukodystrophy awaits replication in other individuals with a clinical diagnosis of Wiedemann-Rautenstrauch syndrome.|GeneReviews|N|
C4225307|Silver-Russell syndrome-3 (SRS3) is characterized by intrauterine growth retardation with relative macrocephaly, followed by feeding difficulties and postnatal growth restriction. Dysmorphic facial features include triangular face, prominent forehead, and low-set ears. Other variable features include limb defects, genitourinary and cardiovascular anomalies, hearing impairment, and developmental delay (Begemann et al., 2015; Yamoto et al., 2017).
For a discussion of genetic heterogeneity of Silver-Russell syndrome, see SRS1 (180860).|OMIM|N|
C4225308|Hereditary sensory and autonomic neuropathy type VIII is an autosomal recessive neurologic disorder characterized by congenital insensitivity to pain resulting in ulceration to the fingers, tongue, lips, and other distal appendages. Affected individuals may also have decreased sweating and tear production (summary by Chen et al., 2015).
For a discussion of genetic heterogeneity of hereditary sensory and autonomic neuropathy, see HSAN1A (162400).|OMIM|N|
C4225309|Autosomal recessive generalized intermediate epidermolysis bullosa simplex 5D (EBS5D) is characterized by generalized skin blistering that heals with scarring and hyperpigmentation. Nail dystrophy is severe. Mucous membranes, heart, and muscle are spared (Gostynska et al., 2015).
For a discussion of genetic heterogeneity of the subtypes of EBS, see EBS1A (131760).|OMIM|N|
C4225310|Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities (NEDMISBA) is an autosomal recessive disorder characterized by a spectrum of neurologic abnormalities apparent from early infancy. Affected individuals have impaired intellectual development with poor speech, progressive microcephaly, and appendicular spasticity. Brain imaging usually shows abnormalities, including enlarged ventricles, white matter defects, and atrophy or hypoplasia of brain tissue. Some patients have a more severe phenotype with seizures, lack of developmental milestones, and early death (summary by Harel et al., 2018).|OMIM|N|
C4225311|Primary ciliary dyskinesia-32 is an autosomal recessive disorder caused by defective structure and function of cilia. Ciliary dysfunction causes respiratory distress in term neonates, impaired mucociliary clearance, chronic respiratory infections, bronchiectasis, and infertility. The ciliary defect affects the central pair complex and radial spokes of the 9+2 motile cilia; affected individuals do not have situs abnormalities (summary by Jeanson et al., 2015).
For a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400).|OMIM|N|
C4225312|Autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions-2 (PEOB2) is a mitochondrial disorder characterized by adult onset of progressive external ophthalmoplegia, exercise intolerance, muscle weakness, and signs and symptoms of spinocerebellar ataxia, such as impaired gait and dysarthria. Some patients may have respiratory insufficiency. Laboratory studies are consistent with a defect in mtDNA replication (summary by Reyes et al., 2015).
For a discussion of genetic heterogeneity of autosomal recessive PEO, see PEOB1 (258450).|OMIM|N|
C4225313|Bethlem myopathy-2 (BTHLM2) is characterized by congenital hypotonia and myopathy. Motor development is delayed, but muscle strength improves with age, and patients are able to achieve ambulation. Proximal joint contractures that improve over time, as well as joint hyperlaxity, are also present. Muscle biopsy shows mild variability in fiber diameter, without degeneration or regeneration (Zou et al., 2014; Hicks et al., 2014).
For a discussion of genetic heterogeneity of Bethlem myopathy, see BTHLM1 (158810).|OMIM|N|
C4225314|Ullrich congenital muscular dystrophy-2 (UCMD2) is a severe autosomal recessive disorder characterized by joint hypermobility, proximal contractures, and muscle weakness precluding ambulation (summary by Zou et al., 2014).
For a discussion of genetic heterogeneity of Ullrich congenital muscular dystrophy, see UCMD1A (254090).|OMIM|N|
C4225315|Any retinitis pigmentosa in which the cause of the disease is a mutation in the ZNF408 gene.|MONDO|N|
C4225316|Familial exudative vitreoretinopathy is a hereditary disorder that can cause vision loss that worsens over time. This condition affects the retina, the specialized light-sensitive tissue that lines the back of the eye. In people with this disorder, blood vessels do not fully develop at the outer edges (periphery) of the retina, which reduces the blood supply to this tissue. This prolonged reduction in blood supply (chronic ischemia) causes continued damage to the retina and can lead to worsening of the condition. \n\nThe signs and symptoms of familial exudative vitreoretinopathy vary widely, even within the same family. In many affected individuals, the retinal abnormalities never cause any vision problems. Other people with this condition develop abnormal vessels that leak. This  causes chronic inflammation which, over time, can lead to fluid under the retina (exudate). A reduction in the retina's blood supply causes the retina to fold, tear, or separate from the back of the eye (retinal detachment). The resulting retinal damage can lead to vision loss and blindness. Other eye abnormalities are also possible, including eyes that do not look in the same direction (strabismus) and a visible whiteness (leukocoria) in the normally black pupil.\n\nSome people with familial exudative vitreoretinopathy also have a condition known as osteoporosis-pseudoglioma syndrome, which is characterized by reduced bone density. People with this condition have weakened bones and an increased  risk of fractures.|MedlinePlus Genetics|N|
C4225317|The Cincinnati type of acrofacial dysostosis is a ribosomopathy characterized by a spectrum of mandibulofacial dysostosis phenotypes, with or without extrafacial skeletal defects (Weaver et al., 2015). In addition, a significant number of neurologic abnormalities have been reported, ranging from mild delays to refractory epilepsy, as well as an increased incidence of congenital heart defects, primarily septal in nature (Smallwood et al., 2023).|OMIM|N|
C4225318|A temporal lobe epilepsy characterized by autosomal dominant inheritance of complex partial seizures with occasional secondary generalization and that has material basis in heterozygous mutation in the GAL gene on chromosome 11q13.|MONDO|N|
C4225319|Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the EDC3 gene.|MONDO|N|
C4225320|Developmental and epileptic encephalopathy-50 (DEE50) is an autosomal recessive progressive neurodegenerative neurometabolic disorder characterized by delayed psychomotor development, early-onset refractory seizures, severe developmental regression, and normocytic anemia. Onset is within the first months or years of life. Evidence suggests that affected children can have a favorable response to treatment with uridine (summary by Koch et al., 2017).
For a discussion of genetic heterogeneity of DEE, see 308350.|OMIM|N|
C4225321|Any Zimmermann-Laband syndrome in which the cause of the disease is a mutation in the ATP6V1B2 gene.|MONDO|N|
C4225323|Basel-Vanagaite-Smirin-Yosef syndrome is an autosomal recessive multiple congenital anomaly disorder characterized by severely delayed psychomotor development resulting in mental retardation, as well as variable eye, brain, cardiac, and palatal abnormalities (summary by Basel-Vanagaite et al., 2015).|OMIM|N|
C4225324|Any chronic mucocutaneous candidiasis in which the cause of the disease is a mutation in the IL17RC gene.|MONDO|N|
C4225325|Frontotemporal dementia and/or amyotrophic lateral sclerosis-4 is an autosomal dominant neurodegenerative disorder characterized by adult or late adult onset of cognitive impairment, behavioral abnormalities, and speech apraxia and/or upper and lower motor neuron signs. The phenotype is highly variable (summary by Freischmidt et al., 2015).
For a discussion of genetic heterogeneity of FTDALS, see FTDALS1 (105550).|OMIM|N|
C4225326|Frontotemporal dementia and/or amyotrophic lateral sclerosis-3 is an autosomal dominant neurodegenerative disorder characterized by adult or late adult onset of cognitive impairment, behavioral abnormalities, and speech apraxia and/or upper and lower motor neuron signs. Some patients may also develop Paget disease of bone. The phenotype is highly variable, even within families (summary by Rea et al., 2014).
For a discussion of genetic heterogeneity of FTDALS, see FTDALS1 (105550).|OMIM|N|
C4225327|Autosomal dominant epilepsy with auditory features (ADEAF) is a focal epilepsy syndrome with auditory symptoms and/or receptive aphasia as prominent ictal manifestations. The most common auditory symptoms are simple unformed sounds including humming, buzzing, or ringing; less common forms are distortions (e.g., volume changes) or complex sounds (e.g., specific songs or voices). Ictal receptive aphasia consists of a sudden onset of inability to understand language in the absence of general confusion. Less commonly, other ictal symptoms may occur, including sensory symptoms (visual, olfactory, vertiginous, or cephalic) or motor, psychic, and autonomic symptoms. Most affected individuals have focal to bilateral tonic-clonic seizures, usually accompanied by "focal aware" and "focal impaired-awareness" seizures, with auditory symptoms as a major focal aware seizure manifestation. Some persons have seizures precipitated by sounds such as a ringing telephone. Age at onset is usually in adolescence or early adulthood (range: age 4-50 years). The clinical course of ADEAF is benign. Seizures are usually well controlled after initiation of medical therapy.|GeneReviews|N|
C4225328|Immunodeficiency-40 is an autosomal recessive primary form of combined immunodeficiency mainly affecting T-cell number and function, with other more variable defects in B-cell and NK-cell function. Patients have onset of severe invasive bacterial and viral infections in early childhood and may die without bone marrow transplantation (summary by Dobbs et al., 2015).|OMIM|N|
C4225330|Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the RBP4 gene.|MONDO|N|
C4225331|46,XY females with gonadal dysgenesis have streak gonads but look like normal females at birth. They do not develop secondary sexual characteristics at puberty and do not menstruate. They are chromatin-negative and are usually of normal stature, without the somatic stigmata of Turner syndrome (see 163950) (summary by Mann et al., 1983).
For a discussion of genetic heterogeneity of 46,XY sex reversal, see SRXY1 (400044).|OMIM|N|
C4225332|Hypomyelinating leukodystrophy-10 is an autosomal recessive neurologic disorder characterized by postnatal progressive microcephaly, severely delayed psychomotor development, and hypomyelination on brain imaging (summary by Nakayama et al., 2015).
For a general phenotypic description and a discussion of genetic heterogeneity of HLD, see 312080.|OMIM|N|
C4225333|Hypomagnesemia, seizures, and impaired intellectual development-1 (HOMGSMR1) is characterized by onset of seizures associated with low serum magnesium in the first year of life. Affected individuals show variable degrees of delayed psychomotor development (summary by Arjona et al., 2014).
Genetic Heterogeneity of Hypomagnesemia, Seizures, and Impaired Intellectual Development
HOMGSMR2 (618314) is caused by mutation in the ATP1A1 gene (182310) on chromosome 1p13.|OMIM|N|
C4225335|Primary familial brain calcification (PFBC) is a neurodegenerative disorder with characteristic calcium deposits in the basal ganglia and other brain areas visualized on neuroimaging. Most affected individuals are in good health during childhood and young adulthood and typically present in the fourth to fifth decade with a gradually progressive movement disorder and neuropsychiatric symptoms. The movement disorder first manifests as clumsiness, fatigability, unsteady gait, slow or slurred speech, dysphagia, involuntary movements, or muscle cramping. Neuropsychiatric symptoms, often the first or most prominent manifestations, range from mild difficulty with concentration and memory to changes in personality and/or behavior, to psychosis and dementia. Seizures of various types occur frequently, some individuals experience chronic headache and vertigo; urinary urgency or incontinence may be present.|GeneReviews|N|
C4225336|Dystonia-27 (DYT27) is an autosomal recessive neurologic disorder characterized by onset of segmental isolated dystonia mainly affecting the craniocervical region and upper limbs in the first 2 decades of life (summary by Zech et al., 2015).|OMIM|N|
C4225337|Developmental and epileptic encephalopathy-33 (DEE33) is a neurologic disorder characterized by the onset of various types of seizures in the first months of life. Affected individuals show severe global developmental delay with impaired intellectual development and poor or absent speech (summary by de Ligt et al., 2012).
For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350.|OMIM|N|
C4225338|Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the SASS6 gene.|MONDO|N|
C4225339|A rare hereditary palmoplantar keratoderma characterized by focal hyperkeratotic lesions on the palms and soles. Histopathologic examination reveals prominent hyperkeratosis, thickened stratum spinosum with reduced stratum granulosum, disadhesion of cells in the suprabasal layers, elongation of rete ridges, and sparse lymphocyte infiltration in the dermis.|ORDO|N|
C4225340|Brugada syndrome is characterized by cardiac conduction abnormalities (ST segment abnormalities in leads V1-V3 on EKG and a high risk for ventricular arrhythmias) that can result in sudden death. Brugada syndrome presents primarily during adulthood, although age at diagnosis may range from infancy to late adulthood. The mean age of sudden death is approximately 40 years. Clinical presentations may also include sudden infant death syndrome (SIDS; death of a child during the first year of life without an identifiable cause) and sudden unexpected nocturnal death syndrome (SUNDS), a typical presentation in individuals from Southeast Asia. Other conduction defects can include first-degree AV block, intraventricular conduction delay, right bundle branch block, and sick sinus syndrome.|GeneReviews|N|
C4225341|Myoclonic dystonia-26 (DYT26) is an autosomal dominant neurologic disorder characterized by onset of myoclonic jerks affecting the upper limbs in the first or second decade of life. The disorder is progressive, and patients later develop dystonia with predominant involvement of the craniocervical regions and sometimes the trunk and/or lower limbs. Dystonia dominates the clinical picture (summary by Mencacci et al., 2015).|OMIM|N|
C4225342|Any retinitis pigmentosa in which the cause of the disease is a mutation in the IFT172 gene.|MONDO|N|
C4225343|Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the EEF1A2 gene.|MONDO|N|
C4225344|Trichothiodystrophy is a rare autosomal recessive disorder in which patients have brittle, sulfur-deficient hair that displays a diagnostic alternating light and dark banding pattern, called 'tiger tail banding,' under polarizing microscopy. TTD patients display a wide variety of clinical features, including cutaneous, neurologic, and growth abnormalities. Common additional clinical features are ichthyosis, intellectual/developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections. There are both photosensitive and nonphotosensitive forms of the disorder. Patients with TTD have not been reported to have a predisposition to cancer (summary by Faghri et al., 2008).
For a discussion of genetic heterogeneity of TTD, see 601675.|OMIM|N|
C4225345|A congenital stationary night blindness characterized by autosomal recessive inheritance that has material basis in homozygous mutation in the GNAT1 gene on chromosome 3p21.|MONDO|N|
C4225346|Dyskeratosis congenita and related telomere biology disorders (DC/TBD) are caused by impaired telomere maintenance resulting in short or very short telomeres. The phenotypic spectrum of telomere biology disorders is broad and includes individuals with classic dyskeratosis congenita (DC) as well as those with very short telomeres and an isolated physical finding. Classic DC is characterized by a triad of dysplastic nails, lacy reticular pigmentation of the upper chest and/or neck, and oral leukoplakia, although this may not be present in all individuals. People with DC/TBD are at increased risk for progressive bone marrow failure (BMF), myelodysplastic syndrome or acute myelogenous leukemia, solid tumors (usually squamous cell carcinoma of the head/neck or anogenital cancer), and pulmonary fibrosis. Other findings can include eye abnormalities (epiphora, blepharitis, sparse eyelashes, ectropion, entropion, trichiasis), taurodontism, liver disease, gastrointestinal telangiectasias, and avascular necrosis of the hips or shoulders. Although most persons with DC/TBD have normal psychomotor development and normal neurologic function, significant developmental delay is present in both forms; additional findings include cerebellar hypoplasia (Hoyeraal Hreidarsson syndrome) and bilateral exudative retinopathy and intracranial calcifications (Revesz syndrome and Coats plus syndrome). Onset and progression of manifestations of DC/TBD vary: at the mild end of the spectrum are those who have only minimal physical findings with normal bone marrow function, and at the severe end are those who have the diagnostic triad and early-onset BMF.|GeneReviews|N|
C4225347|Dyskeratosis congenita and related telomere biology disorders (DC/TBD) are caused by impaired telomere maintenance resulting in short or very short telomeres. The phenotypic spectrum of telomere biology disorders is broad and includes individuals with classic dyskeratosis congenita (DC) as well as those with very short telomeres and an isolated physical finding. Classic DC is characterized by a triad of dysplastic nails, lacy reticular pigmentation of the upper chest and/or neck, and oral leukoplakia, although this may not be present in all individuals. People with DC/TBD are at increased risk for progressive bone marrow failure (BMF), myelodysplastic syndrome or acute myelogenous leukemia, solid tumors (usually squamous cell carcinoma of the head/neck or anogenital cancer), and pulmonary fibrosis. Other findings can include eye abnormalities (epiphora, blepharitis, sparse eyelashes, ectropion, entropion, trichiasis), taurodontism, liver disease, gastrointestinal telangiectasias, and avascular necrosis of the hips or shoulders. Although most persons with DC/TBD have normal psychomotor development and normal neurologic function, significant developmental delay is present in both forms; additional findings include cerebellar hypoplasia (Hoyeraal Hreidarsson syndrome) and bilateral exudative retinopathy and intracranial calcifications (Revesz syndrome and Coats plus syndrome). Onset and progression of manifestations of DC/TBD vary: at the mild end of the spectrum are those who have only minimal physical findings with normal bone marrow function, and at the severe end are those who have the diagnostic triad and early-onset BMF.|GeneReviews|N|
C4225348|Infants with ISCA2-related mitochondrial disorder (IRMD) typically attain normal development in the first months of life. At age three to seven months, affected individuals usually present with a triad of neurodevelopmental regression, nystagmus with optic atrophy, and diffuse white matter disease. As the disease progresses, global psychomotor regression continues at a variable pace and seizures may develop. Affected children become vegetative within one to two years. During their vegetative state, which may persist for years, affected individuals are prone to recurrent chest infections that may require ventilator support. Most affected individuals die during early childhood.|GeneReviews|N|
C4225349|A rare mandibulofacial dysostosis with the association with scalp alopecia and sparse eyebrows and eyelashes. Craniofacial dysmorphic features include zygomatic and mandibular dysplasia or hypoplasia, cleft palate, micrognathia, dental anomalies, auricular dysmorphism and eyelid anomalies among others. Patients may experience limited jaw mobility, glossoptosis, upper airway obstruction and conductive hearing loss.|SNOMEDCT_US|N|
C4225350|Developmental and epileptic encephalopathy-32 (DEE32) is a neurologic disorder characterized by the onset of various seizure types, including febrile and myoclonic seizures, between about 5 and 17 months of age after normal early development. Thereafter, patients manifest global developmental delay or developmental regression with impaired intellectual development and poor or absent speech. Some may be able to attend special schools. Other features include ataxia with difficulty walking, deficient fine motor skills, tremor, and dysarthria. The seizures are initially refractory in some cases, but may remit later during childhood; however, neurologic deficits persist (summary by Syrbe et al., 2015).
For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350.|OMIM|N|
C4225351|White-Sutton syndrome is a neurodevelopmental disorder characterized by a wide spectrum of cognitive dysfunction, developmental delays (particularly in speech and language acquisition), hypotonia, autism spectrum disorder, and other behavioral problems. Additional features commonly reported include seizures, refractive errors and strabismus, hearing loss, sleep disturbance (particularly sleep apnea), feeding and gastrointestinal problems, mild genital abnormalities in males, and urinary tract involvement in both males and females.|GeneReviews|N|
C4225352|PPP2R1A-related neurodevelopmental disorder (NDD) is characterized by: severe, persistent hypotonia; developmental delay with variable intellectual outcomes, typically in the moderate-to-severe intellectual disability range; seizures (more commonly seen in individuals with microcephaly and/or severe intellectual disability); attention-deficit/hyperactivity disorder and other behavioral problems (anxiousness, repetitive movements, self-injurious or destructive behavior, and autism spectrum disorder); feeding and swallowing issues; and dysmorphic features of the head and face. A minority of affected individuals have ear anomalies, hearing loss, ptosis, generalized joint hypermobility, and patent ductus arteriosus. Brain MRI findings are nonspecific but typically include complete or partial agenesis of the corpus callosum. Nonprogressive ventriculomegaly may be seen in a subset of affected individuals and is often associated with specific pathogenic variants in PPP2R1A: c.544C>T (p.Arg182Trp) and c.547C>T (p.Arg183Trp).|GeneReviews|N|
C4225353|Parkinson disease-21 (PARK21) is an autosomal dominant form of typical adult-onset Parkinson disease characterized by tremor, rigidity, bradykinesia, postural instability, and good response to levodopa treatment (summary by Vilarino-Guell et al., 2014).
For a phenotypic description and a discussion of genetic heterogeneity of Parkinson disease, see PD (168600).|OMIM|N|
C4225354|A rare syndromic intellectual disability with characteristics of hypotonia, global developmental delay, limited or absent speech, intellectual disability, macrocephaly, mild dysmorphic features, seizures and autism spectrum disorder. Associated ophthalmologic, heart, skeletal and central nervous system anomalies have been reported.|SNOMEDCT_US|N|
C4225356|Dyskeratosis congenita and related telomere biology disorders (DC/TBD) are caused by impaired telomere maintenance resulting in short or very short telomeres. The phenotypic spectrum of telomere biology disorders is broad and includes individuals with classic dyskeratosis congenita (DC) as well as those with very short telomeres and an isolated physical finding. Classic DC is characterized by a triad of dysplastic nails, lacy reticular pigmentation of the upper chest and/or neck, and oral leukoplakia, although this may not be present in all individuals. People with DC/TBD are at increased risk for progressive bone marrow failure (BMF), myelodysplastic syndrome or acute myelogenous leukemia, solid tumors (usually squamous cell carcinoma of the head/neck or anogenital cancer), and pulmonary fibrosis. Other findings can include eye abnormalities (epiphora, blepharitis, sparse eyelashes, ectropion, entropion, trichiasis), taurodontism, liver disease, gastrointestinal telangiectasias, and avascular necrosis of the hips or shoulders. Although most persons with DC/TBD have normal psychomotor development and normal neurologic function, significant developmental delay is present in both forms; additional findings include cerebellar hypoplasia (Hoyeraal Hreidarsson syndrome) and bilateral exudative retinopathy and intracranial calcifications (Revesz syndrome and Coats plus syndrome). Onset and progression of manifestations of DC/TBD vary: at the mild end of the spectrum are those who have only minimal physical findings with normal bone marrow function, and at the severe end are those who have the diagnostic triad and early-onset BMF.|GeneReviews|N|
C4225357|Developmental and epileptic encephalopathy-31A (DEE31A) is an autosomal dominant neurologic disorder characterized by the global developmental delay apparent in early infancy. Most individuals have onset of various types of refractory seizures in the first months or years of life, which exacerbates the psychomotor deficits. Patients have hypotonia and profound intellectual disability with absent speech and inability to walk or ataxic gait. Some patients may have additional features, including dysmorphic features or cortical visual impairment (summary by the EuroEPINOMICS-RES Consortium et al., 2014 and Deciphering Developmental Disorders Study, 2015).
For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350.|OMIM|N|
C4225358|Any primary immunodeficiency disease in which the cause of the disease is a mutation in the IRF7 gene.|MONDO|N|
C4225359|Lissencephaly-7 with cerebellar hypoplasia (LIS7) is a severe neurodevelopmental disorder characterized by lack of psychomotor development, facial dysmorphism, arthrogryposis, and early-onset intractable seizures resulting in death in infancy (Magen et al., 2015).
For a general description and a discussion of genetic heterogeneity of lissencephaly, see LIS1 (607432).|OMIM|N|
C4225360|Developmental and epileptic encephalopathy-30 (DEE30) is a severe neurologic disorder characterized by onset of refractory seizures soon after birth or in the first months of life. Seizure types include early myoclonic encephalopathy (EME), Ohtahara syndrome, and infantile spasms; most are refractory to treatment. Patients with earlier seizure onset make essentially no developmental progress and may die in infancy. Those with later onset show profoundly impaired global development with absent speech, poor eye contact, inability to walk, behavioral abnormalities, and feeding difficulties that may require a feeding tube (summary by Hansen et al., 2015).
For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350.|OMIM|N|
C4225361|Developmental and epileptic encephalopathy-29 (DEE29) is an autosomal recessive neurologic disorder characterized by the onset of refractory myoclonic seizures in the first months of life. Affected individuals have poor overall growth, congenital microcephaly with cerebral atrophy and impaired myelination on brain imaging, spasticity with abnormal movements, peripheral neuropathy, and poor visual fixation (summary by Simons et al., 2015).
For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350.|OMIM|N|
C4225362|Any microcephaly and chorioretinopathy in which the cause of the disease is a mutation in the TUBGCP4 gene.|MONDO|N|
C4225363|Autosomal dominant Robinow syndrome (ADRS) is characterized by skeletal findings (short stature, mesomelic limb shortening predominantly of the upper limbs, and brachydactyly), genital abnormalities (in males: micropenis / webbed penis, hypoplastic scrotum, cryptorchidism; in females: hypoplastic clitoris and labia majora), dysmorphic facial features (widely spaced and prominent eyes, frontal bossing, anteverted nares, midface retrusion), dental abnormalities (including malocclusion, crowding, hypodontia, late eruption of permanent teeth), bilobed tongue, and occasional prenatal macrocephaly that persists postnatally. Less common findings include renal anomalies, radial head dislocation, vertebral abnormalities such as hemivertebrae and scoliosis, nail dysplasia, cardiac defects, cleft lip/palate, and (rarely) cognitive delay. When present, cardiac defects are a major cause of morbidity and mortality. A variant of Robinow syndrome, associated with osteosclerosis and caused by a heterozygous pathogenic variant in DVL1, is characterized by normal stature, persistent macrocephaly, increased bone mineral density with skull osteosclerosis, and hearing loss, in addition to the typical features described above.|GeneReviews|N|
C4225364|Congenital myasthenic syndrome-18 (CMS18) is an autosomal dominant presynaptic neuromuscular disorder characterized by early-onset muscle weakness and easy fatigability associated with delayed psychomotor development and ataxia (summary by Shen et al., 2014).
For a discussion of genetic heterogeneity of CMS, see CMS1A (601462).|OMIM|N|
C4225365|Maturity-onset diabetes of the young (MODY) is a group of several conditions characterized by abnormally high levels of blood glucose, also called blood sugar. These forms of diabetes typically begin before age 30, although they can occur later in life. In MODY, elevated blood glucose arises from reduced production of insulin, which is a hormone produced in the pancreas that helps regulate blood glucose levels. Specifically, insulin controls how much glucose (a type of sugar) is passed from the blood into cells, where it is used as an energy source.\n\nThe different types of MODY are distinguished by their genetic causes. The most common types are HNF1A-MODY (also known as MODY3), accounting for 50 to 70 percent of cases, and GCK-MODY (MODY2), accounting for 30 to 50 percent of cases. Less frequent types include HNF4A-MODY (MODY1) and renal cysts and diabetes (RCAD) syndrome (also known as HNF1B-MODY or MODY5), which each account for 5 to 10 percent of cases. At least ten other types have been identified, and these are very rare.\n\nHNF1A-MODY and HNF4A-MODY have similar signs and symptoms that develop slowly over time. Early signs and symptoms in these types are caused by high blood glucose and may include frequent urination (polyuria), excessive thirst (polydipsia), fatigue, blurred vision, weight loss, and recurrent skin infections. Over time uncontrolled high blood glucose can damage small blood vessels in the eyes and kidneys. Damage to the light-sensitive tissue at the back of the eye (the retina) causes a condition known as diabetic retinopathy that can lead to vision loss and eventual blindness. Kidney damage (diabetic nephropathy) can lead to kidney failure and end-stage renal disease (ESRD). While these two types of MODY are very similar, certain features are particular to each type. For example, babies with HNF4A-MODY tend to weigh more than average or have abnormally low blood glucose at birth, even though other signs of the condition do not occur until childhood or young adulthood. People with HNF1A-MODY have a higher-than-average risk of developing noncancerous (benign) liver tumors known as hepatocellular adenomas.\n\nGCK-MODY is a very mild type of the condition. People with this type have slightly elevated blood glucose levels, particularly in the morning before eating (fasting blood glucose). However, affected individuals often have no symptoms related to the disorder, and diabetes-related complications are extremely rare.\n\nRCAD is associated with a combination of diabetes and kidney or urinary tract abnormalities (unrelated to the elevated blood glucose), most commonly fluid-filled sacs (cysts) in the kidneys. However, the signs and symptoms are variable, even within families, and not everyone with RCAD has both features. Affected individuals may have other features unrelated to diabetes, such as abnormalities of the pancreas or liver or a form of arthritis called gout.|MedlinePlus Genetics|N|
C4225367|Congenital myasthenic syndrome associated with AChR deficiency is a disorder of the postsynaptic neuromuscular junction (NMJ) clinically characterized by early-onset muscle weakness with variable severity. Electrophysiologic studies show low amplitude of the miniature endplate potential (MEPP) and current (MEPC) resulting from deficiency of AChR at the endplate. Treatment with cholinesterase inhibitors or amifampridine may be helpful (summary by Engel et al., 2015).
For a discussion of genetic heterogeneity of CMS, see CMS1A (601462).|OMIM|N|
C4225368|Congenital myasthenic syndrome associated with AChR deficiency is a disorder of the postsynaptic neuromuscular junction (NMJ) clinically characterized by early-onset muscle weakness with variable severity. Electrophysiologic studies show low amplitude of the miniature endplate potential (MEPP) and current (MEPC) resulting from deficiency of AChR at the endplate. Patients may show a favorable response to amifampridine (summary by Engel et al., 2015).
For a discussion of genetic heterogeneity of CMS, see CMS1A (601462).|OMIM|N|
C4225369|Fast-channel congenital myasthenic syndrome (FCCMS) is a disorder of the postsynaptic neuromuscular junction (NMJ) characterized by early-onset progressive muscle weakness. The disorder results from kinetic abnormalities of the AChR channel, specifically from abnormally brief opening and activity of the channel, with a rapid decay in endplate current and a failure to reach the threshold for depolarization. Treatment with pyridostigmine or amifampridine may be helpful; quinine, quinidine, and fluoxetine should be avoided (summary by Sine et al., 2003 and Engel et al., 2015).
For a discussion of genetic heterogeneity of CMS, see CMS1A (601462).|OMIM|N|
C4225370|Congenital myasthenic syndrome associated with AChR deficiency is a disorder of the postsynaptic neuromuscular junction (NMJ) clinically characterized by early-onset muscle weakness with variable severity. Electrophysiologic studies show low amplitude of the miniature endplate potential (MEPP) and current (MEPC) resulting from deficiency of AChR at the endplate. Treatment with acetylcholinesterase inhibitors or amifampridine may be helpful (summary by Engel et al., 2015).
For a discussion of genetic heterogeneity of CMS, see CMS1A (601462).|OMIM|N|
C4225371|Fast-channel congenital myasthenic syndrome (FCCMS) is a disorder of the postsynaptic neuromuscular junction (NMJ) characterized by early-onset progressive muscle weakness. The disorder results from kinetic abnormalities of the acetylcholine receptor channel, specifically from abnormally brief opening and activity of the channel, with a rapid decay in endplate current and a failure to reach the threshold for depolarization. Treatment with pyridostigmine or amifampridine may be helpful; quinine, quinidine, and fluoxetine should be avoided (summary by Sine et al., 2003 and Engel et al., 2015).
For a discussion of genetic heterogeneity of CMS, see CMS1A (601462).|OMIM|N|
C4225372|Slow-channel congenital myasthenic syndrome (SCCMS) is a disorder of the postsynaptic neuromuscular junction (NMJ) characterized by early-onset progressive muscle weakness. The disorder results from kinetic abnormalities of the AChR channel, specifically from prolonged opening and activity of the channel, which causes prolonged synaptic currents resulting in a depolarization block. This is associated with calcium overload, which may contribute to subsequent degeneration of the endplate and postsynaptic membrane. Treatment with quinine, quinidine, or fluoxetine may be helpful; acetylcholinesterase inhibitors and amifampridine should be avoided (summary by Engel et al., 2015).
For a discussion of genetic heterogeneity of CMS, see CMS1A (601462).|OMIM|N|
C4225373|Congenital myasthenic syndrome associated with AChR deficiency is a disorder of the postsynaptic neuromuscular junction (NMJ) characterized clinically by early-onset muscle weakness with variable severity. Electrophysiologic studies show low amplitude of the miniature endplate potential (MEPP) and current (MEPC) resulting from deficiency of AChR at the endplate. Treatment with cholinesterase inhibitors or amifampridine may be helpful (summary by Engel et al., 2015).
For a discussion of genetic heterogeneity of CMS, see CMS1A (601462).|OMIM|N|
C4225374|Slow-channel congenital myasthenic syndrome (SCCMS) is a disorder of the postsynaptic neuromuscular junction (NMJ) characterized by early-onset progressive muscle weakness. The disorder results from kinetic abnormalities of the acetylcholine receptor channel, specifically from prolonged opening and activity of the channel, which causes prolonged synaptic currents resulting in a depolarization block. This is associated with calcium overload, which may contribute to subsequent degeneration of the endplate and postsynaptic membrane. Treatment with quinine, quinidine, or fluoxetine may be helpful; cholinesterase inhibitors and amifampridine should be avoided (summary by Engel et al., 2015).
For a discussion of genetic heterogeneity of CMS, see CMS1A (601462).|OMIM|N|
C4225375|Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the DPP6 gene.|MONDO|N|
C4225376|Any Senior-Loken syndrome in which the cause of the disease is a mutation in the WDR19 gene.|MONDO|N|
C4225377|Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the LRP4 gene.|MONDO|N|
C4225378|An asphyxiating thoracic dystrophy that has material basis in homozygous mutation in the CEP120 gene on chromosome 5q23.|MONDO|N|
C4225379|Lipoyl transferase 1 deficiency is a very rare inborn error of metabolism disorder, with a highly variable phenotype, typically characterized by neonatal to infancy-onset of seizures, psychomotor delay, and abnormal muscle tone that may include hypo- and/or hypertonia, resulting in generalized weakness, dystonic movements, and/or progressive respiratory distress, associated with severe lactic acidosis and elevated lactate, ketoglutarate and 2-oxoacids in urine. Additional manifestations may include dehydration, vomiting, signs of liver dysfunction, extrapyramidal signs, spastic tetraparesis, brisk deep tendon reflexes, speech impairment, swallowing difficulties, and pulmonary hypertension.|ORDO|N|
C4225380|Singleton-Merten syndrome-2 is characterized by variable expression of glaucoma, aortic calcification, and skeletal abnormalities, without dental anomalies (summary by Jang et al., 2015).
For a general phenotypic description and discussion of genetic heterogeneity of Singleton-Merten syndrome, see SGMRT1 (182250).|OMIM|N|
C4225381|A rare genetic skin disease characterized by generalized skin peeling, leukonychia, acral punctate keratoses coalescing into focal keratoderma on the weight-bearing areas, angular cheilitis and knuckle pads with multiple hyperkeratotic micropapules. The skin appears dry and scaly with superficial exfoliation and underlying erythema. Histopathologic examination of affected skin areas shows hyperkeratosis, acanthosis and intraepidermal clefting with irregular acantholysis. Additional systemic abnormalities are absent.|SNOMEDCT_US|N|
C4225382|Cole-Carpenter syndrome-2 (CLCRP2) is a skeletal dysplasia associated with low bone mass or an osteogenesis imperfecta-like syndrome. It is characterized by bone fragility with craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features such as marked frontal bossing, midface hypoplasia, and micrognathia (summary by Takeyari et al., 2018).|OMIM|N|
C4225383|Lichtenstein-Knorr syndrome is an autosomal recessive neurologic disorder characterized by postnatal onset of severe progressive sensorineural hearing loss and progressive cerebellar ataxia. Features usually develop in childhood or young adulthood (summary by Guissart et al., 2015). Some patients with SLC9A1 mutations may not have deafness (Iwama et al., 2018)|OMIM|N|
C4225384|Optic atrophy-9 (OPA9) is characterized by onset of decreased visual acuity and optic disc pallor in the first decade of life, with severely reduced visual acuity and color vision deficits observed in the third decade. Although initially described as an autosomal recessive disease (Metodiev et al., 2014; Kelman et al., 2018; Gibson et al., 2020), autosomal dominant cases of OPA9 have also been reported (Charif et al., 2021).
Mutation in the ACO2 gene also causes a neurodegenerative disorder, infantile cerebellar-retinal degeneration (ICRD; 614559), of which optic atrophy is a feature.
Dominant and Recessive OPA9
From a cohort of approximately 1,000 patients with optic atrophy, Charif et al. (2021) identified 50 probands with dominant mutations in the ACO2 gene, and 11 patients with biallelic variants. There was no significant difference in distribution of mutation type, with two-thirds of all variants being missense mutations in both groups, and nonsense, frameshift, and splice site mutations comprising the remaining third. Age at onset of symptoms occurred during the first 2 decades, without significant difference between dominant and recessive cases. Visual acuity was significantly more affected in recessive cases than in dominant ones, with more than 60% of eyes from the recessive group having a visual acuity lower than 20/200, whereas more than 80% of eyes from the dominant group had a visual acuity above 20/200. Analysis of the optic disc as well as retinal nerve fiber layer thickness measurements indicated a preferential involvement of the temporal quadrant in both patient groups. Assessment of color vision revealed highly variable alterations, including protan, deutan, and tritan types of dyschromatopsia. Some patients had additional retinal changes, including macular microcysts as well as macular dystrophy in 1 case. Extraocular symptoms were observed in 6 (12%) of the dominant cases and in 3 (27%) of the recessive cases, including hearing impairment in 2 dominant cases, and late-onset cerebellar ataxia in 1 dominant case and in 1 recessive case.|OMIM|N|
C4225385|Lethal congenital contracture syndrome-8 (LCCS8), an axoglial form of arthrogryposis multiplex congenita, is characterized by congenital distal joint contractures, reduced fetal movements, and severe motor paralysis leading to death early in the neonatal period (Laquerriere et al., 2014).
For a general phenotypic description and a discussion of genetic heterogeneity of lethal congenital contracture syndrome, see LCCS1 (253310).|OMIM|N|
C4225386|Lethal congenital contracture syndrome-7, an axoglial form of arthrogryposis multiplex congenita (AMC), is characterized by congenital distal joint contractures, polyhydramnios, reduced fetal movements, and severe motor paralysis leading to death early in the neonatal period (Laquerriere et al., 2014).
For a general phenotypic description and a discussion of genetic heterogeneity of lethal congenital contracture syndrome, see LCCS1 (253310).|OMIM|N|
C4225388|Neurodevelopmental disorder with spastic paraplegia and microcephaly (NEDSPM) is an autosomal recessive neurologic syndrome characterized by delayed psychomotor development with delayed walking, moderately to severely impaired intellectual development, and poor or absent speech. More severely affected individuals show poor overall growth with progressive microcephaly, axial hypotonia, oromotor dysfunction with drooling, joint contractures, and spastic paraplegia resulting in walking difficulties. Some patients may develop seizures; nonspecific dysmorphic features have also been reported (summary by Hengel et al., 2018 and Ouyang et al., 2019).|OMIM|N|
C4225389|Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the UNC45B gene.|MONDO|N|
C4225390|Any congenital bile acid synthesis defect in which the cause of the disease is a mutation in the ABCD3 gene.|MONDO|N|
C4225391|Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency (ECHS1D) represents a clinical spectrum in which several phenotypes have been described: The most common phenotype presents in the neonatal period with severe encephalopathy and lactic acidosis and later manifests Leigh-like signs and symptoms. Those with presentation in the neonatal period typically have severe hypotonia, encephalopathy, or neonatal seizures within the first few days of life. Signs and symptoms typically progress quickly and the affected individual ultimately succumbs to central apnea or arrhythmia. A second group of affected individuals present in infancy with developmental regression resulting in severe developmental delay. A third group of affected individuals have normal development with isolated paroxysmal dystonia that may be exacerbated by illness or exertion. Across all three groups, T2 hyperintensity in the basal ganglia is very common, and may affect any part of the basal ganglia.|GeneReviews|N|
C4225393|A rare disorder with characteristics of neurological problems and neutropenia. Onset of symptoms is in early childhood and severity varies widely among affected individuals. In the most severely affected individuals, features are apparent in infancy and sometimes at birth. Associated with congenital cataracts or cataracts in infancy. The disease is caused by mutations in the CLPB gene which is likely to reduce or eliminate the amount of functional CLPB protein. The severity of the disease may be related to the amount of functional protein that remains. Inherited in an autosomal recessive pattern.|SNOMEDCT_US|N|
C4225394|Amelogenesis imperfecta type IF (AI1F) is characterized by hypoplastic enamel of the primary and secondary dentition. The teeth may appear rough and discolored, and the tooth enamel may be absent, pitted, or of varying thickness (Poulter et al. (2014)).|OMIM|N|
C4225395|A rare genetic syndromic intellectual disability characterized by global developmental delay, moderate to severe intellectual disability, motor and language impairment, behavioral abnormalities (with mood instability, aggression and self-mutilation) and progressive hand tremor. Facial dysmorphism includes narrow palpebral fissures, large ears, long philtrum and prominent chin.|SNOMEDCT_US|N|
C4225396|Arboleda-Tham syndrome (ARTHS) is an autosomal dominant disorder with the core features of impaired intellectual development, speech delay, microcephaly, cardiac anomalies, and gastrointestinal complications (summary by Kennedy et al., 2019).|OMIM|N|
C4225397|Ataxia-oculomotor apraxia-4 (AOA4) is an autosomal recessive neurologic disorder characterized by onset of dystonia and ataxia in the first decade. Additional features include oculomotor apraxia and peripheral neuropathy. Some patients may show cognitive impairment. The disorder is progressive, and most patients become wheelchair-bound in the second or third decade (summary by Bras et al., 2015).
For a discussion of genetic heterogeneity of ataxia-oculomotor apraxia, see AOA1 (208920).|OMIM|N|
C4225398|CLIFAHDD is a congenital disorder characterized by congenital contractures of the limbs and face, resulting in characteristic facial features, hypotonia, and variable degrees of developmental delay. All reported cases have occurred de novo (summary by Chong et al., 2015).|OMIM|N|
C4225400|Interstitial lung and liver disease is an autosomal recessive disorder characterized by onset of respiratory insufficiency and progressive liver disease in infancy or early childhood. Pathologic examination of lung lavage is consistent with pulmonary alveolar proteinosis (summary by Hadchouel et al., 2015).|OMIM|N|
C4225402|Premature ovarian failure-10 (POF10) represents a syndrome characterized by primary amenorrhea, hypergonadotropic ovarian insufficiency, and genomic instability in somatic cells.
For a general phenotypic description and discussion of genetic heterogeneity of premature ovarian failure, see POF1 (311360).
For a discussion of genetic heterogeneity of age at natural menopause, see MENOQ1 (300488).|OMIM|N|
C4225405|Fast-channel congenital myasthenic syndrome (FCCMS) is a disorder of the postsynaptic neuromuscular junction (NMJ) characterized by early-onset progressive muscle weakness. The disorder results from kinetic abnormalities of the acetylcholine receptor (AChR) channel, specifically from abnormally brief opening and activity of the channel, with a rapid decay in endplate current and a failure to reach the threshold for depolarization. Treatment with pyridostigmine or amifampridine may be helpful; quinine, quinidine, and fluoxetine should be avoided (summary by Sine et al., 2003 and Engel et al., 2015).
For a discussion of genetic heterogeneity of CMS, see CMS1A (601462).|OMIM|N|
C4225407|Any peeling skin syndrome in which the cause of the disease is a mutation in the CSTA gene.|MONDO|N|
C4225408|Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TCAP gene.|MONDO|N|
C4225410|Nonmedullary thyroid cancer (NMTC) comprises thyroid cancers of follicular cell origin and accounts for more than 95% of all thyroid cancer cases. The remaining cancers originate from parafollicular cells (medullary thyroid cancer, MTC; 155240). NMTC is classified into 4 groups: papillary, follicular, Hurthle cell (607464), and anaplastic. Approximately 5% of NMTC is hereditary, occurring as a minor component of a familial cancer syndrome (e.g., familial adenomatous polyposis 175100, Carney complex 160980) or as a primary feature (familial NMTC or FNMTC). Papillary thyroid cancer (PTC) is the most common histologic subtype of FNMTC, accounting for approximately 85% of cases (summary by Vriens et al., 2009).
For a general phenotypic description and a discussion of genetic heterogeneity of NMTC, see NMTC1 (188550).|OMIM|N|
C4225411|Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS28 gene.|MONDO|N|
C4225412|Spondylo-ocular syndrome is a very rare association of spinal and ocular manifestations that is characterized by dense cataracts, and retinal detachment along with generalized osteoporosis and platyspondyly. Mild craniofacial dysphormism has been reported including short neck, large head and prominent eyebrows.|ORDO|N|
C4225413|Slow-channel congenital myasthenic syndrome (SCCMS) is a disorder of the postsynaptic neuromuscular junction (NMJ) characterized by early-onset progressive muscle weakness. The disorder results from kinetic abnormalities of the acetylcholine receptor channel, specifically from prolonged opening and activity of the channel, which causes prolonged synaptic currents resulting in a depolarization block. This is associated with calcium overload, which may contribute to subsequent degeneration of the endplate and postsynaptic membrane. Treatment with quinine, quinidine, or fluoxetine may be helpful; acetylcholinesterase inhibitors and amifampridine should be avoided (summary by Engel et al., 2015).
For a discussion of genetic heterogeneity of CMS, see CMS1A (601462).|OMIM|N|
C4225415|MLASA3 is a severe mitochondrial disorder with early infantile presentation of transfusion-dependent sideroblastic anemia in the setting of failure to thrive, hearing loss, epilepsy, stroke-like episodes, and severe developmental delay (summary by Burrage et al., 2014).
For a general phenotypic description and a discussion of genetic heterogeneity of MLASA, see MLASA1 (600462).|OMIM|N|
C4225416|Female-restricted X-linked syndromic intellectual developmental disorder-99 (MRXS99F) is an X-linked dominant neurodevelopmental disorder characterized by delayed psychomotor development and mild to moderate intellectual disability. Affected females can have a wide range of additional congenital anomalies, including scoliosis, postaxial polydactyly, mild cardiac or urogenital anomalies, dysmorphic facial features, and mild structural brain abnormalities (summary by Reijnders et al., 2016).|OMIM|N|
C4225417|X-linked syndromic intellectual developmental disorder-34 (MRXS34) is an X-linked recessive neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability with poor speech, dysmorphic facial features, and mild structural brain abnormalities, including thickening of the corpus callosum (summary by Mircsof et al., 2015).|OMIM|N|
C4225418|X-linked syndromic intellectual developmental disorder-33 (MRXS33) is an X-linked recessive neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, and characteristic facial features (summary by O'Rawe et al., 2015).|OMIM|N|
C4225419|Ritscher-Schinzel syndrome (RSS) is a clinically recognizable condition that includes the cardinal findings of craniofacial features, cerebellar defects, and cardiovascular malformations resulting in the alternate diagnostic name of 3C syndrome. Dysmorphic facial features may include brachycephaly, hypotonic face with protruding tongue, flat appearance of the face on profile view, short midface, widely spaced eyes, downslanted palpebral fissures, low-set ears with overfolding of the upper helix, smooth or short philtrum, and high or cleft palate. Affected individuals also typically have a characteristic metacarpal phalangeal profile showing a consistent wavy pattern on hand radiographs. RSS is associated with variable degrees of developmental delay and intellectual disability. Eye anomalies and hypercholesterolemia may be variably present.|GeneReviews|N|
C4225420|Trichothiodystrophy-5 (TTD5) is an X-linked disorder characterized by sparse and brittle hair, facial dysmorphism, global developmental delays, growth deficiency, hypogonadism, and structural brain abnormalities (summary by Mendelsohn et al., 2020).
For a general phenotypic description and a discussion of genetic heterogeneity of trichothiodystrophy, see TTD1 (601675).|OMIM|N|
C4225421|Microphthalmia with linear skin defects (MLS) syndrome is characterized by unilateral or bilateral microphthalmia and/or anophthalmia and linear skin defects, usually involving the face and neck, which are present at birth and heal with age, leaving minimal residual scarring. Other findings can include a wide variety of other ocular abnormalities (e.g., corneal anomalies, orbital cysts, cataracts), central nervous system involvement (e.g., structural anomalies, developmental delay, infantile seizures), cardiac concerns (e.g., hypertrophic or oncocytic cardiomyopathy, atrial or ventricular septal defects, arrhythmias), short stature, diaphragmatic hernia, nail dystrophy, hearing impairment, and genitourinary malformations. Inter- and intrafamilial variability is described.|GeneReviews|N|
C4225422|Diamond-Blackfan anemia (DBA) is characterized by a profound normochromic and usually macrocytic anemia with normal leukocytes and platelets, congenital malformations in up to 50%, and growth deficiency in 30% of affected individuals. The hematologic complications occur in 90% of affected individuals during the first year of life. The phenotypic spectrum ranges from a mild form (e.g., mild anemia or no anemia with only subtle erythroid abnormalities, physical malformations without anemia) to a severe form of fetal anemia resulting in nonimmune hydrops fetalis. DBA is associated with an increased risk for acute myelogenous leukemia (AML), myelodysplastic syndrome (MDS), and solid tumors including osteogenic sarcoma.|GeneReviews|N|
C4225423|Reducing-body myopathy (RBM) is a rare myopathy characterized pathologically by the presence of intracytoplasmic inclusion bodies strongly stained by menadione-linked alpha-glycerophosphate dehydrogenase (MAG) in the absence of substrate, alpha-glycerophosphate. The term 'reducing body' refers to the reducing activity of the inclusions to nitroblue tetrazolium (NBT) in the absence of substrate. This condition is also commonly associated with rimmed vacuoles and cytoplasmic bodies. The clinical features of RBM are variable; a severe form has onset in infancy or early childhood and results in severe disability or early death, and a less severe form has onset in late childhood or adulthood (RBMX1B; 300718) (summary by Liewluck et al., 2007 and Shalaby et al., 2009).|OMIM|N|
C4225424|A rare genetic eye disease with characteristics of optic disc anomalies (bilateral colobomatous optic discs, retinal vessels arising from the peripheral optic disc) and macular atrophy. Peripapillary chorioretinal atrophy and chorioretinal and iris coloboma have also been described. Patients present with horizontal nystagmus and poor visual acuity.|SNOMEDCT_US|N|
C4225426|Nonmedullary thyroid cancer (NMTC) comprises thyroid cancers of follicular cell origin and accounts for more than 95% of all thyroid cancer cases. The remaining cancers originate from parafollicular cells (medullary thyroid cancer, MTC; 155240). NMTC is classified into 4 groups: papillary, follicular, Hurthle cell (607464), and anaplastic. Approximately 5% of NMTC is hereditary, occurring as a minor component of a familial cancer syndrome (e.g., familial adenomatous polyposis, 175100, Carney complex, 160980) or as a primary feature (familial NMTC or FNMTC). Papillary thyroid cancer (PTC) is the most common histologic subtype of FNMTC, accounting for approximately 85% of cases (summary by Vriens et al., 2009).
Follicular thyroid cancer (FTC) accounts for approximately 15% of NMTC and is defined by invasive features that result in infiltration of blood vessels and/or full penetration of the tumor capsule, in the absence of the nuclear alterations that characterize papillary carcinoma. FTC is rarely multifocal and usually does not metastasize to the regional lymph nodes but tends to spread via the bloodstream to the lung and bones. An important histologic variant of FTC is the oncocytic (Hurthle cell, oxyphilic) follicular carcinoma composed of eosinophilic cells replete with mitochondria (summary by Bonora et al., 2010).
For a general phenotypic description and a discussion of genetic heterogeneity of NMTC, see NMTC1 (188550).|OMIM|N|
C4225427|Singleton-Merten syndrome (SGMRT) is an uncommon autosomal dominant disorder characterized by abnormalities of blood vessels, teeth, and bone. Calcifications of the aorta and aortic and mitral valves occur in childhood or puberty and can lead to early death. Dental findings include delayed primary tooth exfoliation and permanent tooth eruption, truncated tooth root formation, early-onset periodontal disease, and severe root and alveolar bone resorption associated with dysregulated mineralization, leading to tooth loss. Osseous features consist of osteoporosis, either generalized or limited to distal extremities, distal limb osteolysis, widened medullary cavities, and easy tearing of tendons from bone. Less common features are mild facial dysmorphism (high anterior hair line, broad forehead, smooth philtrum, thin upper vermilion border), generalized muscle weakness, psoriasis, early-onset glaucoma, and recurrent infections. The disorder manifests with variable inter- and intrafamilial phenotypes (summary by Rutsch et al., 2015).
Genetic Heterogeneity of Singleton-Merten Syndrome
An atypical form of Singleton-Merten syndrome (SGMRT2; 616298) is caused by mutation in the DDX58 gene (609631) on chromosome 9p21.|OMIM|N|
C4225428|Sideroblastic anemia comprises a heterogeneous group of inherited and acquired disorders characterized by ineffective erythropoiesis. Anemia, if present, may be microcytic or macrocytic. Sometimes a dimorphic picture is observed in which 2 populations of erythrocytes can be detected in peripheral blood smears. The presence of ringed sideroblasts (erythroblasts containing pathologic mitochondrial iron deposits) in bone marrow is pathognomonic for sideroblastic anemia (van Waveren Hogervorst et al., 1987; Schmitz-Abe et al., 2015).
For a discussion of genetic heterogeneity of sideroblastic anemia, see SIDBA1 (300751).|OMIM|N|
C4225429|Classic Ehlers-Danlos syndrome (cEDS) is a connective tissue disorder characterized by skin hyperextensibility, atrophic scarring, and generalized joint hypermobility (GJH). The skin is soft and doughy to the touch, and hyperextensible, extending easily and snapping back after release (unlike lax, redundant skin, as in cutis laxa). The skin is fragile, as manifested by splitting of the dermis following relatively minor trauma, especially over pressure points (knees, elbows) and areas prone to trauma (shins, forehead, chin). Wound healing is poor, and stretching of scars after apparently successful primary wound healing is characteristic. Complications of joint hypermobility, such as dislocations of the shoulder, patella, digits, hip, radius, and clavicle, usually resolve spontaneously or are easily managed by the affected individual. Other features include hypotonia with delayed motor development, fatigue and muscle cramps, and easy bruising. Mitral valve prolapse can occur infrequently, but tends to be of little clinical consequence. Aortic root dilatation has been reported, appears to be more common in young individuals, and rarely progresses.|GeneReviews|N|
C4225449|A rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 14 that results in a predisposition to a number of adult-onset myeloproliferative neoplasms, including acute myeloid leukaemia, chronic myelomonocytic leukaemia and myeloproliferative neoplasms especially essential thrombocythemia. Progression to myelofibrosis and secondary acute myeloid leukaemia can be observed.|SNOMEDCT_US|N|
C4225669|The 10q22.3-q23.2 region is characterized by a complex set of low-copy repeats (LCRs), which can give rise to various genomic changes mediated by nonallelic homologous recombination (NAHR). Recurrent deletions of chromosome 10q22.3-q23.2, including the BMPR1A gene (601299) have been associated with dysmorphic facies, developmental delay, and multiple congenital anomalies. Some patients with deletions that extend distally to include the PTEN gene (601728) have a more severe phenotype with infantile/juvenile polyposis, macrocephaly, dysmorphic facial features, and developmental delay (summary by van Bon et al., 2011).|OMIM|N|
C4225671|VATER is a mnemonically useful acronym for the nonrandom association of vertebral defects (V), anal atresia (A), tracheoesophageal fistula with esophageal atresia (TE), and radial or renal dysplasia (R). This combination of associated defects was pointed out by Quan and Smith (1972). Nearly all cases have been sporadic.
VACTERL is an acronym for an expanded definition of the association that includes cardiac malformations (C) and limb anomalies (L). The VACTERL association is a spectrum of various combinations of its 6 components, which can be a manifestation of several recognized disorders rather than a distinct anatomic or etiologic entity (Khoury et al., 1983).
Also see VATER/VACTERL association with hydrocephalus (VACTERL-H; 276950) and VACTERL with or without hydrocephalus (VACTERLX; 314390).|OMIM|N|
C4227331|An increase in cell size, enhanced protein synthesis, and heightened organization of the sarcomere within cardiac myocytes.|HPO|N|
C4227845|Failure of oocytes to proceed through the stages of meiosis with stoppage at the first metaphase stage.|HPO|N|
C4229071|Increased diameter (caliber) of intrahepatic bile ducts (bile ducts that transport bile between the Canals of Hering and the interlobar bile ducts).|HPO|N|
C4229185|Increased duration of the central motor conduction time (CMCT). The CMCT estimates the conduction time of corticospinal fibers between motor cortex and spinal (or bulbar) motoneurons. It includes the times for excitation of cortical cells, conduction via the corticobulbar-corticospinal tract and excitation of the motoneuron sufficient to reach its firing threshold. CMCT is calculated by subtracting the peripheral conduction time from the MEP latency recorded after cortical stimulation.|HPO|N|
C4230397|Swelling of the hand at the knuckles, that gives the fingers a spindle shape (i.e., a round stick with tapered end and a broader base).|HPO|N|
C4230513|Increased number of vacuoles (membrane-bound organelles that areempty of cytoplasm, lined with a membrane, and filled with fluid) in keratinocytes.|HPO|N|
C4230625|Reduced level of the compound muscle action potential (CMAP), which is recorded following electrical stimulation of a nerve from surface electrodes overlying a muscle supplied by that nerve.|HPO|N|
C4230952|A developmental defect characterized by underdevelopment of the cochlear nerve.|HPO|N|
C4231238|A type of oligozoospermia characterized by a total number of more than 30 but less than 39 million sperm in the ejaculate or a concentration of more than 10 but less than 15 million sperm per milliliter.|HPO|N|
C4231432|Ringed creases of the skin of the extremities related to folding of excess skin.|HPO|N|
C4255008|The development of two or more cartilage capped bony outgrowths of the long bones.Develop and increase in size in the first decade of life, ceasing to grow when the growth plates close at puberty. The number may vary significantly within and between families. The majority are asymptomatic and located in bones that develop from cartilage, especially the long bones of the extremities, predominantly around the knee. The most important complication is malignant transformation towards secondary peripheral chondrosarcoma. Germline mutations in EXT1 or EXT2, are found in almost 90% of patients. An autosomal dominant disorder.|SNOMEDCT_US|N|
C4255010|A myocardial infarction that does not produce elevations in the ST segments of the ELECTROCARDIOGRAM. ST segment elevation of the ECG is often used in determining the treatment protocol (see also ST Elevation Myocardial Infarction).|MSH|N|
C4255043|A developmental disorder of the eye with manifestation of unilateral or bilateral microphthalmia associated with ocular coloboma.|SNOMEDCT_US|N|
C4255088|A genetic disorder with characteristics of the appearance of numerous cysts spread throughout the liver. Women are predominantly affected and have a larger number of cysts than affected males. Cysts are undetectable early in life and usually appear after the age of 40 years. Their number and size increases with age. Symptoms depend on the mass (compression effect) some patients are asymptomatic. Liver function is usually normal. There is no portal hypertension. Extrahepatic manifestations are very rare and may include intracranial aneurysms (usually small sized and at a low risk of rupture) and mitral leaflet abnormalities. Liver cysts result from overgrowth of biliary epithelium or from dilatation of peribiliary glands. Some cases occur sporadically, but most are inherited as an autosomal dominant trait.|SNOMEDCT_US|N|
C4255193|Impairment of the vestibular function of both inner ears which can cause difficulties with balance, gait, VERTIGO, and visual blurring.|MSH|N|
C4255215|A congenital malformation of the tricuspid valve characterized by leaflet deformation.|HPO|N|
C4255334|Thrombomodulin is a cofactor in the thrombin induced activation of Protein C. In the case of deficiency there will be less Protein C and tendency to clot|HPO|N|
C4255374|A rare variant of lichen planopilaris with characteristic of symmetrical progressive band-like anterior hair loss of the scalp. Prevalence is unknown. It most commonly affects postmenopausal women, although it has also been reported in men and premenopausal women. Progressive recession of the frontal and temporal hairline is observed. Approximately half of all cases also have eyebrow loss; less often there is hair loss in other parts of the body. It is only very rarely associated with classic lichen planus lesions elsewhere. It is suggested that the disease could have a hormonal origin, but to date the precise cause remains unknown.|SNOMEDCT_US|N|
C4255450|Defined by the presence of pancreatic cancer in two or more first-degree relatives. In familial cases, disease onset occurs before 50 years of age, earlier than for the other forms of pancreatic cancer. Prognosis is poor.|SNOMEDCT_US|N|
C4263625|The beginning coordinate of the range (inclusive), given as an integer offset from the start of the sequence. (BRIDG)|NCI|N|
C4264252|The quantitative measurement of the effective regurgitant orifice area of a cardiac valve.|NCI|N|
C4264446|A carcinoma characterized by the presence of more than one malignant epithelial histologic pattern.|NCI|N|
C4264447|Includes diffuse and signet-ring cell carcinoma and other variants|LNC|N|
C4264465|A response indicating that an individual is or has been mostly dissatisfied.|NCI|N|
C4264482|A response indicating that something happens or happened about half of the time.|NCI|N|
C4264483|A response indicating that something happens or happened less than one in five times.|NCI|N|
C4264619|A finding indicating the detection of less than the normal number of copies of a gene or genetic/genomic segment in a sample.|NCI|N|
C4264620|The gene product metabolic enzyme activity is fully functional.|SNOMEDCT_US|N|
C4264621|The gene product metabolic enzyme activity is greater than normal but less than an ultrarapid metaboliser.|SNOMEDCT_US|N|
C4264622|A genetic variant that is not expected to contribute to the development of a disease, but the scientific evidence may be insufficient to prove this conclusively.|NCI|N|
C4267893|A rare haematologic disease characterised by symptoms of mast cell activation in the absence of cutaneous findings, as well as absence of diagnostic criteria of systemic mastocytosis with tryptase levels of less than 20 mg/ml and normal to low burden of mast cells. Bone marrow biopsy reveals the presence of monoclonal mast cells carrying the KIT D816V mutation and/or expressing CD25. Symptoms include recurrent episodes of flushing, headache, hypotension, abdominal cramping, nausea, diarrhoea, cardiac arrhythmia, bronchoconstriction and bleeding diathesis.|SNOMEDCT_US|N|
C4267894|Mast cell activation syndrome where neither an allergy or other underlying disease is association, nor KIT-mutated mast cells are detectable.|MONDO|N|
C4267895|Mast cell activation syndrome where an underlying inflammatory disease is present, often in the form of an IgE-dependent allergy, but there are no KIT-mutated mast cells.|MONDO|N|
C4268580|Acute separation of the periodontal tissue from the root by 1-2 millimetres of clinical attachment loss in less than 30% of sites as measured from the cementoenamel junction to the base of the probable pocket (gingival sulcus).|SNOMEDCT_US|N|
C4268581|Acute separation of the periodontal tissue from the root by 3-4 millimeters of clinical attachment loss in less than 30% of sites as measured from the cementoenamel junction to the base of the probable pocket (gingival sulcus).|SNOMEDCT_US|N|
C4268582|Acute separation of the periodontal tissue from the root by 5 millimetres or more of clinical attachment loss in less than 30% of sites as measured from the cementoenamel junction to the base of the probable pocket (gingival sulcus).|SNOMEDCT_US|N|
C4268584|Acute separation of the periodontal tissue from the root by 3-4 millimetres of clinical attachment loss in greater than 30% of sites as measured from the cementoenamel junction to the base of the probable pocket (gingival sulcus).|SNOMEDCT_US|N|
C4268585|Acute separation of the periodontal tissue from the root by 5 millimetres or more of clinical attachment loss in greater than 30% of sites as measured from the cementoenamel junction to the base of the probable pocket (gingival sulcus).|SNOMEDCT_US|N|
C4268587|Chronic separation of the periodontal tissue from the root by 1-2 millimetres of clinical attachment loss in less than 30% of sites as measured from the cementoenamel junction to the base of the probable pocket (gingival sulcus).|SNOMEDCT_US|N|
C4268588|Chronic separation of the periodontal tissue from the root by 3-4 millimetres of clinical attachment loss in less than 30% of sites as measured from the cementoenamel junction to the base of the probable pocket (gingival sulcus).|SNOMEDCT_US|N|
C4268589|Chronic separation of the periodontal tissue from the root by 5 millimetres or more of clinical attachment loss in less than 30% of sites as measured from the cementoenamel junction to the base of the probable pocket (gingival sulcus).|SNOMEDCT_US|N|
C4268591|Chronic separation of the periodontal tissue from the root by 1-2 millimetres of clinical attachment loss in greater than 30% of sites as measured from the cementoenamel junction to the base of the probable pocket (gingival sulcus).|SNOMEDCT_US|N|
C4268592|Chronic separation of the periodontal tissue from the root by 3-4 millimetres of clinical attachment loss in greater than 30% of sites as measured from the cementoenamel junction to the base of the probable pocket (gingival sulcus).|SNOMEDCT_US|N|
C4268593|Chronic separation of the periodontal tissue from the root by 5 millimetres or more of clinical attachment loss in greater than 30% of sites as measured from the cementoenamel junction to the base of the probable pocket (gingival sulcus).|SNOMEDCT_US|N|
C4268599|An eosinophilic gastrointestinal disorder triggered by food that is non-IgE-mediated.|MONDO|N|
C4270714|The state of being in an upright position continuing for a time greater than what would be considered normal. (ACC-AHA)|NCI|N|
C4270809|Acute separation of the periodontal tissue from the root by 1-2 millimetres of clinical attachment loss in greater than 30% of sites as measured from the cementoenamel junction to the base of the probable pocket (gingival sulcus).|SNOMEDCT_US|N|
C4272018|A rare autosomal anomaly due to the presence of an extra copy of chromosome 4 in a fraction of all cells with a variable phenotype. Typical characteristics are intrauterine growth retardation, low birth weight/length/head circumference, mild intellectual deficit, congenital heart defects, hypertrophic cardiomyopathy, dysmorphic features (asymmetry of the face, eyebrow anomalies, low-set, posterior rotated, dysplastic ears, micro-/retrognathia), characteristic thumb abnormalities (aplasia, hypoplasia) and skin abnormalities (hypo/hyperpigmentation). Delayed puberty may be associated.|SNOMEDCT_US|N|
C4272578|Infantile malignant osteopetrosis is a rare congenital disorder of bone resorption characterised by generalised skeletal densification.|ORDO|N|
C4272579|An autosomal dominant form of osteopetrosis due to mutation(s) in the CLCN7 gene, encoding H(+)/Cl(-) exchange transporter 7. Clinical features include sclerosis involving the spine, the pelvis, and the base of the skull. Complications can include optic nerve compression, dental abscesses, anemia, and bone fragility. One third of individuals who carry a CLCN7 mutation have a normal skeletal phenotype.|NCI|N|
C4272690|A spectrum of primary, secondary, and idiopathic disorders involving MAST CELLS and characterized by an aberrant release of mast cell mediators which result in multiple and variable inflammatory and allergic symptoms. These disorders are associated with various mutations in tyrosine kinase KIT (PROTO-ONCOGENE PROTEINS C-KIT) and other genes, underlying conditions, and responses to allergic or non-allergic triggers of mast cell stimulation and degranulation such as local anesthetics, lactam antibiotics, muscle relaxants, specific foods, environmental toxins, physical conditions such as vibration, cold, pressure, and stress.|MSH|N|
C4272717|An indication that an individual lives with their sibling.|NCI|N|
C4272718|An indication that an individual lives with a legal guardian other than those listed elsewhere.|NCI|N|
C4273131|A rare genetic multiple congenital anomalies syndrome with characteristics of second branchial arch anomalies (branchial cysts and fistulae), malformations of the outer, middle and inner ear associated with sensorineural, mixed or conductive hearing loss and the absence of renal abnormalities. Typical ear findings consist of malformed auricles (lop or cupped ears), preauricular pits and/or tags, and middle and/or inner ear dysplasias (including cochlear, vestibular and semicircular channel hypoplasia, malformation of the ossicles and of middle ear space).|SNOMEDCT_US|N|
C4273437|Reintubation of a patient due to acute respiratory failure following extubation.|SNOMEDCT_US|N|
C4273494|The clinical situation in which a conventionally trained anaesthesiologist experiences difficulty with mask ventilation, difficulty with tracheal intubation or both.|SNOMEDCT_US|N|
C4273557|The occurrence of abnormal involuntary movements that are incongruent with a known neurologic cause and are significantly improved on neurological exam with distraction or non-physiologic maneuvers. The disorder is defined by its clinical appearance, rather than by any causative speculation.|SNOMEDCT_US|N|
C4273655|A primary immunodeficiency with characteristics of increased susceptibility to pyogenic bacterial infections, including invasive pneumococcal, invasive staphylococcal and pseudomonas disease. Only 24 cases have been reported. The disease presents in childhood with recurrent, life-threatening, pyogenic bacterial infections. This predisposition to life-threatening infections seems transient and lasts during the first 10 years of life in the cases reported so far. Myeloid differentiation primary response 88 (MyD88) deficiency results from mutations in the MYD88 gene (3p22-3p21.3) which generally abolishes the cytokine responses of the blood cells. Transmission is autosomal recessive.|SNOMEDCT_US|N|
C4273658|A variant of lichen planopilaris characterized by the clinical triad of progressive cicatricial (scarring) alopecia of the scalp, follicular keratotic papules on glabrous skin, and variable alopecia of the axillae and groin. It is a very rare disease but the exact prevalence is not known. It mainly affects women during adulthood (30-60 years of age). Scarring alopecia presents as small confluent patches that are atrophic and cicatricial in the center but erythematous and squamous around the edges. Follicular keratosis presents as pruritic, red-brown, follicular spiny papules on the trunk and extremities. Generally, the three clinical features appear simultaneously but in some cases, scalp alopecia precedes the follicular keratosis. Etiology is unknown.|SNOMEDCT_US|N|
C4273659|A demyelinating polyneuropathy characterized clinically by sensory ataxia, tremor, paresthesia, and impaired gait.|SNOMEDCT_US|N|
C4273660|Characterized by early neonatal onset of hypotonia, hypertrophic cardiomyopathy and apneic spells within hours after birth accompanied by lactic acidosis, hyperammonemia and 3-methylglutaconic aciduria. Most patients who survive the neonatal period have mild cranio-facial dysmorphism with low set ears, prominent nasal bridge and retrognathia, persisting muscular hypotonia and moderate psychomotor developmental delay. The result of an isolated decrease in the tissue content and activity of mitochondrial FoF1 ATP synthase caused by depressed biosynthesis of the enzyme. This enzyme defect is present in all tissues and is due to autosomal recessive mutations in the TMEM70 gene (8q21.11), encoding ancillary factor of ATP synthase biogenesis.|SNOMEDCT_US|N|
C4273669|A rare lymphoma of the lung defined as a clonal lymphoid proliferation affecting one or both lungs in a patient with no detectable extrapulmonary involvement at diagnosis or during the subsequent 3 months. Comprises low grade/indolent B cell forms, the most frequent form represented by the marginal B-cell lymphoma of mucosa associated lymphoid tissue (MALT lymphoma) and other non-MALT low grade lymphomas; and more rarely high-grade B-cell and lymphomatoid granulomatosis. Very rare and represents only 3-4% of extranodal non-Hodgkin lymphoma.|SNOMEDCT_US|N|
C4273672|A permanent thyroid deficiency that is present from birth, characterised by low levels of thyroid hormones caused by disorders in the development or function of the pituitary. The clinical manifestations can be subtle, probably as a result of trans-placental passage of some maternal thyroid hormone or due to the fact that many infants have some thyroid production of their own. Goitre is always absent. Slow linear growth and developmental delay are usually apparent by 4-6 months of age. Without treatment hypothyroidism results in severe intellectual deficit and short stature. The hypothyroidism is caused by mutations in genes regulating pituitary gland development including HESX1, LHX3, LHX4, POU1F1 and PROP1 (3p21.2-p21.1, 9q34.3, 1q25, 3p11 and 5q).|SNOMEDCT_US|N|
C4273673|Decreased response to thyroid hormones in peripheral tissues, with normal response in the pituitary gland.|NCI|N|
C4273674|A rare cause of glomerulonephritis characterized by glomerular accumulation of non-amyloid fibrils in the mesangium and the glomerular (and rarely tubular) basement membrane, and mainly presenting with renal insufficiency, micro-hematuria and nephritic range proteinuria. Etiology is unknown. The disease is generally considered idiopathic but it may be associated with secondary causes such as monoclonal or oligoclonal gammopathy, hepatitis B and C infections, autoimmune diseases and malignancies.|SNOMEDCT_US|N|
C4273676|A rare chromosomal anomaly with clinical manifestations of mild to severe intellectual deficit, severe developmental delay, hypotonia with tendency to develop progressive hypertonia over time, minor facial anomalies and agenesis of the corpus callosum. Thirty to fifty percent of individuals have autism. An inverted duplication with a terminal deletion of the short arm of chromosome 8 mostly occurs as either an inverted duplication from centromere to D8S552 with a pter deletion from D8S349 or as an inverted duplication from 8p11.2 or 8p21 to D8S552, with a telomeric deletion from D8349. The input of the 8p deletion to the clinical picture appears less significant than the 8p inversion duplication rearrangement. To date, all invdupdel(8p) have occurred de novo.|SNOMEDCT_US|N|
C4273683|Autosomal recessive limb girdle muscular dystrophy type 2C (LGMD2C) is a limb girdle muscular dystrophy with manifestations of limb-girdle weakness, calf hypertrophy, diaphragmatic weakness and variable cardiac abnormalities. Ambulation may be lost by the age 12.|SNOMEDCT_US|N|
C4273714|Nephrotic syndrome with often-early onset defined by severe proteinuria with low serum albumin and possible edema. This disease is rare but severe as it usually progresses to end-stage renal failure. Mutations in the NPHS2 gene (chromosome 1q25-q31 and encoding podocine) have been found to be involved in autosomal recessive forms of the disease. Mutations in the podocine gene have also been detected in later-onset forms and in apparently sporadic forms. Mutations in the ACTN4 gene, coding for alpha-actinine 4, have been reported in autosomal dominant forms. Familial forms of idiopathic steroid-resistant nephrotic syndrome do not respond to any treatment with steroids or immunosuppressive drugs and the disease progress to terminal renal failure.|SNOMEDCT_US|N|
C4273730|A very rare mitochondrial disease with clinical characteristic of cardioencephalomyopathy resulting in death in infancy.|SNOMEDCT_US|N|
C4273742|A form of severe combined immunodeficiency with severe and recurrent infections, associated with diarrhoea and failure to thrive. The disease is characterised by a lack of circulating T and NK (Natural Killer) cells and normal number of B lymphocytes. Results from a defect in the JAK3 gene encoding an intracellular tyrosine kinase, the Janus activating kinase 3 required for cytokine-mediated signalling. Transmission is autosomal recessive.|SNOMEDCT_US|N|
C4273747|Combined pituitary hormone deficiency is a condition that causes a shortage (deficiency) of several hormones produced by the pituitary gland, which is located at the base of the brain. A lack of these hormones may affect the development of many parts of the body. The first signs of this condition include a failure to grow at the expected rate and short stature that usually becomes apparent in early childhood.\n\nPeople with combined pituitary hormone deficiency may have hypothyroidism, which is underactivity of the butterfly-shaped thyroid gland in the lower neck. Hypothyroidism can cause many symptoms, including weight gain and fatigue. Other features of combined pituitary hormone deficiency include delayed or absent puberty and lack the ability to have biological children (infertility). The condition can also be associated with a deficiency of the hormone cortisol. Cortisol deficiency can impair the body's immune system, causing individuals to be more susceptible to infection.\n\nRarely, people with combined pituitary hormone deficiency have intellectual disability; a short, stiff neck; or underdeveloped optic nerves, which carry visual information from the eyes to the brain.|MedlinePlus Genetics|N|
C4273748|A type of primary congenital hypothyroidism a permanent thyroid hormone deficiency that is present from birth, which results from inborn errors of thyroid hormone synthesis. Clinical manifestations are those of other forms of congenital hypothyroidism. In addition to features of hypothyroidism, patients can present with goitre. Caused by hereditary defects in the steps of thyroid hormone synthesis and secretion, the majority of which are transmitted in an autosomal recessive manner but at least one condition has autosomal dominant inheritance.|SNOMEDCT_US|N|
C4273754|A patient under general anaesthesia with muscle relaxation who cannot be intubated by direct laryngoscopy and in whom mask ventilation is difficult and impossible.|SNOMEDCT_US|N|
C4273756|A rare disorder with characteristics of sclerosis of the intrahepatic portal veins, non-cirrhotic portal hypertension, asymptomatic splenomegaly and recurrent variceal bleeding. Most commonly, the condition is detected in investigating a fortuitous finding of hypersplenism or splenomegaly. Main histopathologic findings are periportal fibrosis, occlusion of small portal veins, sclerosis of the portal venous system, and proliferation of small vascular channels within/around portal tracts. The disease is slowly progressive. Exposure to toxic substances or drugs, autoimmune and connective tissue diseases, systemic or intraabdominal infections, and clotting abnormalities have been incriminated. A genetic background has been suggested.|SNOMEDCT_US|N|
C4273767|Dental implant which has never achieved osseointegration.|SNOMEDCT_US|N|
C4273829|A form of autosomal dominant optic atrophy with characteristics of progressive and isolated visual loss in the first decade of life, decreased reflexes in the lower limbs and a mild cerebellar stance.|SNOMEDCT_US|N|
C4273860|Fetal iodine syndrome is a group of symptoms that may be observed in a fetus or newborn when the mother was exposed during pregnancy to inappropriate (excessive or insufficient) amounts of iodine, a nonmetallic halogen element. Maternal iodine can be readily transferred to the fetus, and chronic maternal exposure to iodine can lead to hypothyroidism and goiter in the offspring. The majority of the reported fatalities caused by iodine intoxication resulted from the use of iodine-containing expectorants during pregnancy. Based on these observations, the repeated or routine use of iodine-containing products is not recommended during pregnancy. In addition to the problems associated with iodine intoxication, iodine deficiency during pregnancy may be severe enough to produce hypothyroidism in the fetus.|SNOMEDCT_US|N|
C4273897|A chromosomal anomaly characterised by an intellectual deficiency, progressive microcephaly, seizures, growth delay, distinct facial dysmorphic features and various midline defects including cardiac, corpus callosum, gastro-oesophageal and urogenital anomalies.|SNOMEDCT_US|N|
C4273898|An idiopathic condition in which the bladder and bladder outlet are normal but the ureter is dilated to some extent. It may be obstructed, refluxing or unobstructed and not refluxing. Prevalence is unknown, but is the second most common cause of neonatal hydronephrosis. About half of cases are asymptomatic and are discovered on routine antenatal ultrasound. The cause is unknown but it may be due to high fetal urine outflow, changes in the ureter pre and postnatal or transient anatomical obstructions that improve with postnatal development, such as ureteral folds. Not known to be hereditary, but families with more than one affected member have been described.|SNOMEDCT_US|N|
C4273899|Congenital plasminogen activator inhibitor type 1 (PAI-1) deficiency is a rare genetic bleeding disorder characterised by premature lysis of haemostatic clots and a moderate bleeding tendency. Both partial and total PAI-1 deficiencies are extremely rare disorders. PAI-1 is the physiological inhibitor of tissue-type plasminogen activator (t-PA), the main source of intravascular fibrinolysis. Affected patients carry one (heterozygote) or two (homozygote) alleles with a mutation in the SERPINE1 gene (7q22.1), resulting in partial or total antigenic PAI-1 deficiency. Transmitted as autosomal recessive traits.|SNOMEDCT_US|N|
C4273913|Idiopathic congenital hypothyroidism is a type of primary congenital hypothyroidism whose cause and prevalence are unknown. Clinical manifestations are those of other forms of congenital hypothyroidism. Goiter is always absent. Ultrasound examination and thyroid scintigraphy show a thyroid gland of normal shape and size in the normal, eutopic location. Idiopathic congenital hypothyroidism can be diagnosed after exclusion of the known causes of congenital hypothyroidism.|SNOMEDCT_US|N|
C4273914|A type of transient congenital hypothyroidism a thyroid hormone deficiency that is not permanent. Patients may present with symptoms similar to those of permanent congenital hypothyroidism or they may be asymptomatic. It is caused by the transfer of maternal thyroid stimulating hormone (TSH) blocking antibodies, which can block the TSH receptor in the neonatal thyroid resulting in hypothyroidism in the infant. The effect can last up to 3-6 months after birth as maternal antibody levels fall. Treatment with l-thyroxine is usually required during this period.|SNOMEDCT_US|N|
C4273952|A very rare neonatal epileptic encephalopathy disorder with clinical characteristics of myoclonic and clonic, or clonic seizures associated with apnea occurring several hours to 5 days after birth and responding to folinic acid.|SNOMEDCT_US|N|
C4273958|Melanocortin 4 receptor (MC4R) deficiency is the commonest form of monogenic obesity identified so far. MC4R deficiency is characterised by severe obesity, an increase in lean body mass and bone mineral density, increased linear growth in early childhood, hyperphagia beginning in the first year of life and severe hyperinsulinaemia, in the presence of preserved reproductive function. MC4R is a G protein-coupled receptor involved in the hypothalamic leptin-melanocortin signalling pathway. Activation of the MC4R plays a key role in the maintenance of energy homeostasis and is associated with suppression of food intake.|SNOMEDCT_US|N|
C4273962|A renal tubulopathy characterized by renal tubular resistance to aldosterone, characterized by hyponatremia, metabolic acidosis and hyperkalemia and manifesting as dehydration, secondary to urinary tract malformation and infections in infants.|SNOMEDCT_US|N|
C4273963|Deficient lacrimation ranging from a complete absence of tears to hyposecretion of tears that is present from birth. Prevalence is unknown. Transmission is usually autosomal recessive, but dominant transmission has also been described. Artificial tears are the first treatment option, needed to avoid corneal sequelae.|SNOMEDCT_US|N|
C4273965|One of the most severe forms of congenital adrenal hyperplasia, it is extremely rare. Congenital anomalies are typically seen in the perinatal period. Boys are not virilised and demonstrate a complete girl phenotype. The external genitalia of girls are normal. Hypoglycaemic seizures, vomiting or symptoms of dehydration are common manifestations. This disease is due to a mutation in the STAR gene, which encodes for a protein that regulates steroid hormone synthesis. The disease follows an autosomal recessive pattern of inheritance.|SNOMEDCT_US|N|
C4273966|Papular mucinosis of infancy is a rare paediatric non progressive form of localised lichen myxoedematosus characterised by the development of firm opalescent mucinous papules on the upper arms and the trunk.|SNOMEDCT_US|N|
C4273967|Discrete papular lichen myxedematosus is a rare chronic, slowly progressive form of localized lichen myxedematosus characterized by the development of a few to multiple small symmetrical skin-colored mucinous papules on the limbs and trunk.|SNOMEDCT_US|N|
C4273968|A rare form of localized lichen myxedematosus characterized by the development of skin-colored mucinous nodules on the limbs and trunk, with mild or absent papular eruption.|SNOMEDCT_US|N|
C4273969|An acquired form of intestinal lymphangiectasia manifesting as a protein-losing enteropathy due to another disorder such as Crohn disease, congestive heart failure, sarcoidosis, Turner syndrome and often in patients who have undergone a Fontan operation. It is characterized by malabsorption, diarrhea, edema due to hypoproteinemia, steatorrhea and serosal effusions.|SNOMEDCT_US|N|
C4273986|The presence of diffuse palmoplantar keratoderma without associated symptoms. The syndrome has been described in multiple families from the northernmost county of Sweden (Norrbotten). The palmoplantar keratoderma found in the Gamborg-Nielsen type disease is milder than that found in Mal de Meleda but more severe than that found in Thost-Unna palmoplantar keratoderma. Transmission is autosomal recessive.|SNOMEDCT_US|N|
C4273988|An inherited epileptic syndrome characterized by cortical hand tremors, myoclonic jerks and occasional generalized or focal seizures with a non-progressive or very slowly progressive disease course, and no signs of early dementia or cerebellar ataxia. Usually presents in the second decade of life with a minor cortical hand tremor. Mapped to at least 4 different chromosomal loci. Transmitted autosomal dominantly and penetrance is high|SNOMEDCT_US|N|
C4273990|This syndrome is characterized by epilepsy, learning difficulties, macrocephaly, and aggressive behavior. It has been described in males from a four-generation kindred. It is transmitted as an X-linked recessive trait and is likely to be caused by mutations in the gene encoding synapsin I (Xp11.3-q12).|SNOMEDCT_US|N|
C4274016|Syndrome with the association of arthropathy of interphalangeal, metacarpophalangeal and metatarsophalangeal joints with brachydactyly of the middle and distal phalanges. It has been described in numerous members from five generations of one large family. Inheritance is autosomal dominant.|SNOMEDCT_US|N|
C4274017|Steroid-resistant, sporadic idiopathic nephrotic syndrome, is a heterogeneous entity. Nephrotic syndrome is characterized by marked proteinuria, with reduced plasmatic levels of albumin, and potentially with edema.|MONDO|N|
C4274018|This syndrome consists of the association of congenital nephronophthisis leading to renal failure, and hepatic fibrosis. It has been described in five members of one family, two of whom died from renal failure. The association of Boichis syndrome with tapetoretinal degeneration and intellectual deficit has also been reported in one family: the so-called Senior-Boichis syndrome could be in fact the same entity, and was later reported in a 12 year-old child.|SNOMEDCT_US|N|
C4274019|A form of diazoxide-sensitive diffuse hyperinsulinism caused by a lowered threshold for insulin release. Characterised by excessive/uncontrolled insulin secretion and recurrent episodes of profound hypoglycaemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae. Activating mutations of GCK (7p15.3-p15.1) that encodes glucokinase have been identified as the cause.|SNOMEDCT_US|N|
C4274029|The association of biliary atresia and splenic abnormalities. Cardiac defect, situs inversus and a preduodenal portal vein can also be present. It represents the embryonal or syndromic form of biliary atresia. It affects newborns or infants and is characterised by jaundice, pale stools, dark urine, failure to thrive, hepatomegaly, coagulopathy, anaemia and often palpable spleen.|SNOMEDCT_US|N|
C4274074|A rare neurological mitochondrial DNA-related disorder characterised clinically by progressive paediatric-onset dystonia with variable degrees of severity.|SNOMEDCT_US|N|
C4274075|Describes a spectrum of phenotypes with manifestations similar but milder than those seen in GRACILE syndrome and that can be associated with encephalopathy and psychiatric disorders. The prevalence is unknown, several cases have been described, presentation is variable. Most of the characteristics of GRACILE syndrome are present but they are often less severe. Signs of disturbances in iron metabolism have been described. Most infants die during the neonatal period. In those who survive, encephalopathy and psychiatric disorders have been described. This disease is due to different mutations in the BCS1L gene (2q35) encoding a protein essential in the assembly of complex III in the mitochondrial respiratory chain. Inherited autosomal recessively.|SNOMEDCT_US|N|
C4274077|A non-syndromic, microcytic/hypochromic sideroblastic anemia, present from early infancy and characterized by severe microcytic anemia, which is not pyridoxine responsive, and increased serum ferritin. To date, fewer than 30 unrelated genetically characterized individuals have been reported. Clinical features are those of anemia and iron overload and include pallor, fatigue, weakness, breathlessness, splenomegaly, hyperglycemia, glucose intolerance and skin hyperpigmentation. Patients need blood transfusions to survive and do not respond to treatment with pyridoxine. Caused by a homozygous or compound heterozygous mutation in the SLC25A38 gene located on chromosome 3p22.1. The SLC25A38 gene mutation is transmitted as an autosomal recessive trait.|SNOMEDCT_US|N|
C4274078|A form of diazoxide-sensitive diffuse hyperinsulinism characterised by macrosomia, transient or persistent hyperinsulinaemic hypoglycaemia, responsiveness to diazoxide and a propensity to develop maturity-onset diabetes of the young subtype 1. The disease frequently presents as neonatal hypoglycaemia. All patients are responsive to medical management with diazoxide. Family history of diabetes is usually, but not always present. Caused by mutations in HNF4A gene (20q13.12). The transmission is autosomal dominant with variable penetrance.|SNOMEDCT_US|N|
C4274079|Anomaly of bile acid synthesis with manifestation of fat malabsorption, neonatal cholestasis and growth failure. Prevalence is unknown. Only 8 cases have been reported. Patients present with a history of neonatal cholestasis, fat and fat-soluble vitamin malabsorption and growth failure. Several mutations in the bile acid-CoA ligase gene have been found in most patients with this defect. The mode of transmission of these mutations is not known.|SNOMEDCT_US|N|
C4274080|A form of diazoxide-sensitive diffuse hyperinsulinism characterised by hypoglycaemic episodes that are usually mild, escaping detection during infancy and usually a good clinical response to diazoxide. Autosomal dominant hyperinsulinism due to SUR1 deficiency usually has a milder phenotype when compared to that resulting from recessive K-ATP mutations.|SNOMEDCT_US|N|
C4274081|A form of diazoxide-sensitive diffuse hyperinsulinism characterized by hypoglycemic episodes that are usually mild, escaping detection during infancy, and usually a good clinical response to diazoxide, (but some are diazoxide resistant). Usually has a milder phenotype when compared to that resulting from recessive K+ channel mutations.|SNOMEDCT_US|N|
C4274082|Caused by abnormal insulin production by b-cells in the pancreas that can be diffuse or focal and is characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), recurrent episodes of profound hypoglycemia and resistance to medical management with diazoxide.|SNOMEDCT_US|N|
C4274083|A life-threatening syndrome with manifestation of progressive and painful skin ulcerations associated with calcification of medium-size and small cutaneous arterial vessels. It affects mainly patients on dialysis or after renal transplantation.|SNOMEDCT_US|N|
C4274084|An autosomal recessive leukodystrophy sharing identical clinical and radiological features as X-linked Pelizaeus-Merzbacher disease. Prevalence is unknown. It is characterized by early-onset nystagmus, delayed motor milestones, progressive spasticity, ataxia, and diffuse leukodystrophy on magnetic resonance imaging.|SNOMEDCT_US|N|
C4274085|Refers to cases of recessive X-linked ichthyosis (RXLI) that are associated with extracutaneous manifestations as part of a syndrome. It affects almost exclusively males. Cutaneous manifestations include hyperkeratosis and scaling of the skin. Non cutaneous manifestations may be corneal opacity, late puberty, cryptorchidism and a higher frequency of testicular cancer. Manifestations due to contiguous gene syndrome include neurological abnormalities such as epilepsy and hyposmia, intellectual deficit and/or short stature. Transmission is X-linked recessive.|SNOMEDCT_US|N|
C4274086|Denotes the presence of a lesion on the cervical margin of the tooth that is not caries.|SNOMEDCT_US|N|
C4274118|The most frequent subtype of Joubert syndrome with manifestation of neurological features of Joubert Syndrome associated with retinal dystrophy. Prevalence is unknown. Age of onset and severity of retinal involvement are variable, ranging from congenital to progressive retinopathy with partial conservation of vision. To date, the most frequently mutated gene in this subtype is AHI1 (6q23.2), which accounts for about 20% of cases, following autosomal recessive inheritance.|SNOMEDCT_US|N|
C4274221|An extremely rare type of severe combined immunodeficiency characterised by the classical signs of severe combined immunodeficiency (severe and recurrent infections, diarrhoea, failure to thrive), absence of T and B lymphocytes and cell sensitivity to ionising radiation.|SNOMEDCT_US|N|
C4274223|An infectious embryofetopathy that has been reported to cause spontaneous abortion, stillbirth, malformations and acute systemic illness in the newborn. The clinical manifestations of congenital infection ranges from asymptomatic to benign, febrile to severe illness consisting of variable combinations of sepsis, hepatitis, coagulopathy, myocarditis, pneumonitis and meningoencephalitis.|SNOMEDCT_US|N|
C4274225|A parasitic disease caused by Cyclospora cayetanensis, a recently discovered coccidia that was initially described in Peru and then in most intertropical zones. The prevalence is unknown. Infection occurs through ingestion of contaminated food or water and leads to abdominal pain, anorexia and diarrhoea, which may resolve spontaneously in immunocompetent individuals but may persist in a chronic form in immunocompromised subjects, leading to a decline in their general state of health. The diagnosis is made by parasitological examination of the stools.|SNOMEDCT_US|N|
C4274282|A severe form of microphthalmia with characteristics of a small eye with a short axial length, severe hyperopia, an elevated lens/eye ratio, and a high incidence of angle-closure glaucoma. Nanophthalmia is generally bilateral. Strabism is present in most patients. Mutations in the MFRP gene (11q23.1) have been found to be responsible for the hereditary form with recessive transmission. Chromosomal anomalies involving chromosome 11p and 2q11-14 have been identified for autosomal dominant forms of nanophthalmia. It may be inherited as an autosomal dominant or recessive trait, or may occur sporadically.|SNOMEDCT_US|N|
C4274283|A rare congenital heart malformation of unknown etiology that is characterized by an extremely dilated right atrium. It is usually asymptomatic and fortuitously discovered by echocardiography or chest radiography and can be sometimes associated with other anomalies such as atrial arrhythmias (e.g. atrial flutter, atrial fibrillation, supraventricular tachycardia), severe tricuspid regurgitation, or atrial thrombus that could lead to potentially life-threatening thromboembolic complications.|SNOMEDCT_US|N|
C4274284|A rare benign autosomal dominant disorder of fat tissue proliferation with characteristic of presence of multiple small lipomas of 2 to 5 cm in diameter in the middle third of the body (i.e. the forearms, trunk, and upper thighs), and which are generally painless and can be easily removed provided that they are not too numerous or confluent. There have been no further descriptions in the literature since 1984.|SNOMEDCT_US|N|
C4274291|Infective dermatitis associated with HTLV-1 is a rare and severe chronic disease characterized by recurrent chronic eczema (with erythematous, scaly and crusted lesions) mainly affecting seborrheic areas (e.g. scalp, forehead, eyelids, paranasal and periauricular skin, neck, axillae, and groin), a generalized fine papular rash, chronic nasal discharge with crusting of the anterior nares, and non-virulent <i>Staphylococcus aureus</i> or beta-hemolytic <i>Streptococcus</i> infections, thought to be a result of HTLV-1-induced immunosuppression. Lymphadenopathy, anemia, mild to moderate pruritus and increased incidence of other infections (e.g. crusted scabies) have also been reported in some patients. Patients may subsequently develop other HTLV-1 associated conditions such as adult T-cell leukemia/lymphoma and tropical spastic paraparesis (see these terms).|ORDO|N|
C4274302|A debilitating tiredness or total lack of energy, often reported as the most common symptom in individuals with cancer. Cancer fatigue can result from chemotherapy, radiation therapy, surgery, and other treatments; chemotherapy-induced anemia is a very frequent cause. -- 2004|NCI|N|
C4274304|A rare haemorrhagic disorder caused by congenital deficiency of alpha2 antiplasmin, leading to dysregulated fibrinolysis and is characterised by a haemorrhagic tendency presenting from childhood with prolonged bleeding and ecchymoses following minor trauma and spontaneous bleeding episodes. Inherited in an autosomal recessive manner.|SNOMEDCT_US|N|
C4274306|A rare hyperthyroidism characterised by mild to severe hyperthyroidism, presence of goitre, absence of features of autoimmunity, frequent relapses while on treatment and a positive family history.|SNOMEDCT_US|N|
C4274324|An inborn error of metabolism characterised by abnormal urinary excretion of myoglobin due to acute destruction of skeletal muscle fibres. The exact prevalence remains unknown. In the majority of cases, the disease manifests in childhood and is often triggered by exertion or infection. Mutations in the mitochondrial DNA-encoded cytochrome C oxidase genes (MT-CO1 and MT-CO2) should be considered in patients with recurrent myoglobinuria.|SNOMEDCT_US|N|
C4274326|A respiratory disease caused by the deposition of hemosiderin-laden macrophages in lungs as a result of repeated alveolar hemorrhage secondary to another disease. Seen in dysimmunitary disorders for example Heiner syndrome, thrombotic disorders and cardiovascular disorders such as mitral stenosis. It manifests as a triad of hemoptysis, anemia and diffuse parenchymal infiltrates on chest radiography.|SNOMEDCT_US|N|
C4274328|FRAXE is a form of nonsyndromic X-linked intellectual disability with characteristic of mild intellectual deficit. The estimated prevalence in the general population is between 1 in 100,000 and 1 in 150,000. FRAXE manifests in individuals with more than 200 CCG repeats in the 5'' UTR of the AFF2 gene (Xq28).|SNOMEDCT_US|N|
C4274329|FRAXF syndrome was originally identified in a family with developmental delay and an expanded CCG repeat at the folate-sensitive FRAXF fragile site. Since this initial description, FRAXF has been associated with a range of manifestations but no clear phenotype has been established. Prevalence is unknown. The FRAXF fragile site is located at Xq28 within the 5''UTR of the TMEM185A gene.|SNOMEDCT_US|N|
C4274331|A type of cutaneous amyloidosis that is characterized clinically by waxy, purpuric plaques and nodules and histologically by amyloid deposits in the dermis and subcutaneous tissue.|HPO|N|
C4274332|Rare neuroendocrine neoplasms represented by paragangliomas (occurring in any paraganglia from the skull base to the pelvic floor) and phaeochromocytomas. Can be either hypersecreting (catecholamines) or non-secreting. There are no validated markers of malignancy (rate around 15%); the only criterion is the presence of metastases. Hereditary disease is caused by mutations in the SDHD, SDHC, SDHB, SDHA and SDHAF2 (or SDH5) genes (11q23, 1q21, 1p36.1-p35, 5p15 and 11q31.1 respectively). Transmission is autosomal dominant. The disease may be fatal, but some have lived with malignant PCC/PGL for 20 years or more.|SNOMEDCT_US|N|
C4274335|A rare X-linked genetic epilepsy syndrome affecting females. The syndrome has characteristics of seizures starting in the first years of life and intellectual disability and may resemble Dravet syndrome. In families with this disease, male carriers are unaffected despite the X-linked inheritance.|SNOMEDCT_US|N|
C4274336|Congenital deficiency in alpha-fetoprotein is a benign genetic condition characterized by a dramatically decreased level of alpha-fetoprotein in fetus or neonate.|ORPHANET|N|
C4274343|A rare rectal disease characterised by rectal bleeding, abdominal pain, passage of mucous, sensation of incomplete evacuation, straining at defaecation and rectal prolapse, secondary to ischaemic changes in the rectum.|SNOMEDCT_US|N|
C4274345|The syndrome is associated with a broad clinical spectrum, of which behavioral disorders and poor social interaction seem to be the most consistent. Only five patients have been reported to date. All patients have behavioral disorders suggesting that some of the genes within the duplication interval may be candidates for the autistic spectrum. Intellectual skills range from normal to mild intellectual deficiency. Other features are variable with no striking common phenotypic features.|SNOMEDCT_US|N|
C4274352|A chronic type of intestinal failure with characteristics of a nonfunctioning small bowel that may be reversible or irreversible. The body is unable to maintain energy and nutritional needs through absorption of food or nutrients via the intestinal tract despite being metabolically stable. This necessitates long-term parenteral feeding.|SNOMEDCT_US|N|
C4274355|A form of Parkinson disease with age of onset of more than 50 years, tremor at rest, gait complaints and falls, bradykinesia, rigidity and painful cramps. Patients usually present a low risk of developing non-motor symptoms, dystonia, dyskinesia and levodopa-induced dyskinesia. The exact aetiology is still unknown but mutations in the genes SNCA (4q21.3-q22), LRRK2 (12q12), and VPS35 (16q12) have been implicated in its pathogenesis. Transmission is autosomal dominant.|SNOMEDCT_US|N|
C4274356|A benign or malignant neoplasm arising primarily in the inner lining, muscle layer, or the surrounding pericardium of the heart. They can be primary or metastatic. Primary cardiac neoplasms are rare in children. The vast majority of primary cardiac neoplasms in children are benign, whilst approximately 10% are malignant. In contrast, the majority of secondary neoplasms are malignant.|SNOMEDCT_US|N|
C4274357|This infection causes no clinical manifestations in the majority of infants. Indeed, the occurrence of congenital infection with Epstein-Barr virus has never been demonstrated conclusively and must be very rare. One case has been reported to present after birth with multiple congenital anomalies (micrognathia, cryptorchidism, central cataracts), dystrophy and multiple areas of metaphysitis of the long bones at birth. A low birth weight was also reported.|SNOMEDCT_US|N|
C4274358|An extremely rare inherited tumour syndrome within the familial nonmedullary thyroid cancer group.|SNOMEDCT_US|N|
C4274414|A rare form of gastric carcinoma characterized by a latent EBV infection in gastric carcinoma cells, diffuse-type histology, a proximal location (in the body and cardia of the stomach) and a relatively favorable prognosis.|ORDO|N|
C4274421|Salivary gland type cancer of the breast describes a group of uncommon neoplasms, usually seen in the salivary glands but occurring in the breast, with a variable clinicopathologic spectrum and divided into those with myoepithelial differentiation and those without.|SNOMEDCT_US|N|
C4274424|A rare ovarian germ cell malignant tumor arising from primordial germ cells, usually presenting with nausea, vomiting, abdominal pain, menstrual irregularities, and characterized by fast growth pattern, metastasis to lung, liver and brain and production of human chorionic gonadotrophin. It is apparently chemoresistant and has a worse prognosis than gestational choriocarcinoma.|SNOMEDCT_US|N|
C4274433|Caused by the Lujo virus, a zoonotic disease from Zambia, Africa, whose reservoir is unknown. Characterized by fever and hemorrhagic manifestations with an extremely high fatality rate of 80% and a moderate to high level of nosocomial transmission.|SNOMEDCT_US|N|
C4274434|Caused by the Chapare virus discovered from a small outbreak in Cochabamba, Bolivia between 2003 and 2004. An acute viral haemorrhagic fever characterised by fever, myalgia, arthralgia, and multiple haemorrhagic signs. About a third of untreated cases go on to develop more severe symptoms with delirium, coma and convulsions and death.|SNOMEDCT_US|N|
C4274450|Sexual exploitation is a form of sexual abuse. Sexual exploitation of children and young people under 18 involves exploitative situations, contexts and relationships where young people receive something for example drugs, alcohol, accommodation as a result of them performing or others performing on them, sexual activities. In sexual exploitation there is financial gain from abuse.|SNOMEDCT_US|N|
C4274470|A very rare kinetic eyelid anomaly that can affect the upper or lower eyelid, presents at birth, that in some cases can result in corneal exposure, and that may be associated with accessory levator muscle slips.|SNOMEDCT_US|N|
C4274472|Vascular access induced steal syndrome due to a functioning arteriovenous fistula or graft.|SNOMEDCT_US|N|
C4274494|A rare malignant sex cord stromal tumor of ovary of unknown histological lineage, occurring in adult women, characterized, in most cases, by manifestations of androgen excess (hirsutism, hair loss, amenorrhea, or oligomenorrhea) and, occasionally, Cushing syndrome.|ORDO|N|
C4274507|The spontaneous self-limiting hygroma of infancy.|SNOMEDCT_US|N|
C4274509|An intestinal disease characterized by an overproduction of bile acids due to a synthesis defect which leads to chronic watery diarrhea.|SNOMEDCT_US|N|
C4274528|A chromosomal anomaly with characteristics of severe developmental delay and/or intellectual disability, typical facial dysmorphic features, brain anomalies, seizures, cleft palate, clubfeet, nail hypoplasia and congenital heart disease.|SNOMEDCT_US|N|
C4274647|A well-defined and clinically recognisable syndrome characterised by moderate to severe developmental delay, short stature, facial dysmorphism and variable limb defects. It has been reported in 20 patients. Dysmorphic features include microcephaly, downslanting palpebral fissures, flat and long philtrum, micrognathia and low-set and dysplastic ears. The spectrum of limb defects ranges from monodactylous ectrodactyly, brachydactyly and syndactyly to camptodactyly. The lower limbs tend to be more often and more severely affected than the upper limbs.|SNOMEDCT_US|N|
C4274665|A form of primary progressive aphasia with characteristics of impaired single-word retrieval and naming and impaired repetition with spared single-word comprehension and object knowledge.|SNOMEDCT_US|N|
C4274729|Tubular duplication of the oesophagus is a rare congenital malformation where a second structure with individual lumen and stratified squamous mucosa and muscularis mucosa lies within or adjacent to the true oesophagus causing dysphagia, nausea, vomiting, retrosternal pain and respiratory problems (stridor and recurrent pneumonia) and usually presenting in children.|SNOMEDCT_US|N|
C4274730|Polyrrhinia is an extremely rare, major congenital malformation with characteristic of complete duplication of the nose resulting in two fully developed noses often associated with choanal atresia, causing respiratory distress and necessitating surgical repair.|SNOMEDCT_US|N|
C4274731|A type of epilepsy that presents between 2 and 14 years of age with the triad of frequent eyelid myoclonia, with or without absences, induced by eye closure and photic stimulation. Eyelid myoclonia is often most prominent on awakening. Generalized tonic-clonic seizures occur in the majority of cases but are usually infrequent. The electroencephalogram shows bursts of 3 to 6 Hz generalized spike-wave or polyspike-and-wave which are often triggered by eye closure and/or photic stimulation, with a normal background.|SNOMEDCT_US|N|
C4274732|Very rare poorly-defined bone disease with manifestation of ischial aplasia or hypoplasia, vertebral anomalies (vertebral malsegmentation, kyphoscoliosis), and in some patients, non-distinctive facial dysmorphism.|SNOMEDCT_US|N|
C4274753|This syndrome has characteristics of profound conductive deafness due to stapedial abnormalities associated with variable malformations of the external ears and facial paralysis. It has been described in three siblings and their mother. Inheritance is autosomal dominant.|SNOMEDCT_US|N|
C4274756|This syndrome is characterized by bilateral moderate-to-severe sensorineural hearing loss and salivary gland insensitivity to aldosterone resulting in hyponatremia. It has been described in two brothers. Transmission appeared to be autosomal recessive.|SNOMEDCT_US|N|
C4274761|A very rare and mild form of spondylocostal dysostosis with characteristics of vertebral and costal segmentation defects, often with a reduction in the number of ribs.|SNOMEDCT_US|N|
C4274782|A rare pterygium inherited autosomal dominantly, which develops in early adulthood. With characteristics of a wing-like bulbar thickening of the conjunctiva in the interpalpebral fissure area that can be cured by surgical excision.|SNOMEDCT_US|N|
C4274783|This syndrome has characteristics of growth and developmental delay, mild to moderate neurologic abnormalities, and pili torti. It has been described in a brother and his sister born to consanguineous Puerto Rican parents.|SNOMEDCT_US|N|
C4274784|This syndrome has characteristics of severe short stature with disproportionately short legs, small hands, clinodactyly, valvular heart disease and dysmorphism (ptosis, high-arched palate, abnormal dentition). It has been described in a mother and two daughters. This syndrome is probably transmitted as an autosomal dominant trait.|SNOMEDCT_US|N|
C4274785|This syndrome has characteristics of short stature, sensorineural deafness, mutism, facial dysmorphism and abnormal neutrophil chemotaxis (leading to recurrent infections). It has been described in two siblings.|SNOMEDCT_US|N|
C4274786|This syndrome has characteristics of osteoporosis, macrocephalus, brachytelephalangy, and hyperextensibility of the joints. Congenital amaurosis and intellectual deficit have also been reported. This syndrome has been described in three members of one family.|SNOMEDCT_US|N|
C4274793|A genetic variant of Mendelian susceptibility to mycobacterial diseases with characteristics of mild bacillus Calmette-Guérin (BCG) infections and recurrent Salmonella infections. The prevalence is unknown. Over 140 cases have been reported in the world. Disease onset usually occurs in patients before the age of 12 with the appearance of BCG disease, usually after receiving the vaccination. Over half of patients with this variant experience an additional infection with non-typhoidal Salmonella. Caused by mutations in the IL12RB1 gene (19p13.1) subunit that encodes for the IL-12R-beta1 chain. These mutations impair the IL-12/IL-23 pathway essential for production of IFN-beta and the resulting immunity against Salmonella and BCG infections. Inherited in an autosomal recessive manner.|SNOMEDCT_US|N|
C4274798|An extremely rare fatal central nervous system malformation occurring during embryogenesis presenting prenatally on the ultrasound with holoprosencephaly and fetal hypokinesia as major features. Other manifestations include microcephaly, multiple contractures, intrauterine growth restriction. An X-linked recessive inheritance has been suggested.|SNOMEDCT_US|N|
C4274800|This syndrome has features of microcornea, glaucoma and absent frontal sinuses. Less than 10 cases have been described so far. The mode of transmission appears to be autosomal dominant.|SNOMEDCT_US|N|
C4274803|Periodontitis caused by the anatomic shape of the dental restoration and not the substance used.|SNOMEDCT_US|N|
C4274833|Anatomical variation from normal tooth structure in shape, form or location.|SNOMEDCT_US|N|
C4274837|Syndrome with the association of mullerian duct and distal limb anomalies. It has been described in five individuals from one family. Females presented with anomalies ranging from a vaginal septum to complete duplication of uterus and vagina, and males presented with micropenis. The limb anomalies varied from postaxial polydactyly to severe upper limb hypoplasia with split hand. The mode of transmission is autosomal dominant.|SNOMEDCT_US|N|
C4274838|This syndrome associates upper limb defects (hypoplastic thumb with hypoplasia of the metacarpal bone and phalanges and delayed bone maturation), developmental delay, central hearing loss, unilateral poorly developed antihelix, bilateral choroid coloboma and growth retardation. This syndrome has been reported in two siblings. The inheritance is probably autosomal recessive.|SNOMEDCT_US|N|
C4274839|Limb body wall complex (LBWC) is a syndrome with features of severe multiple congenital anomalies. Clinical manifestations vary widely and include limb defects and visceral malformations, spinal abnormalities, absent diaphragm, bowel atresia and renal agenesis. Karyotypes have been reported as normal and no correlations with gender, parental age and teratogenic agents have been found. The principal theories are an extrinsic origin by early amniotic rupture, or a vascular origin due to an early vascular accident during embryological development. Single cases of familial occurrence have been documented. LBWC is fatal, with death occurring antenatally or early in the neonatal period.|SNOMEDCT_US|N|
C4274840|This syndrome has manifestation of a diffuse non-epidermolytic palmoplantar keratoderma with frequent fungal infections. Prevalence in the general population is estimated at 1 in 40,000 but is much higher in northern Sweden. Transmission is autosomal dominant and the causative gene has been localized to chromosome 12q11-q13.|SNOMEDCT_US|N|
C4274843|A very rare syndromic limb malformation described in two distantly related boys. Its features are described as absence deformity of the left leg, progressive scoliosis, short stature, congenital cataract associated with dysplasia of the optic nerve. No intellectual deficit has been observed.|SNOMEDCT_US|N|
C4274844|A very rare multiple congenital anomalies syndrome described in three brothers of one South-African family, and with features of hypospadias and intellectual deficit, in association with microcephaly, craniofacial dysmorphism, joint laxity and beaked nails|SNOMEDCT_US|N|
C4274853|A rare copper-overload liver disease with rapidly progressive liver cirrhosis from the first few years of life leading to hepatic insufficiency. Specific pathological aspects; pericellular fibrosis, inflammatory infiltration, hepatocyte necrosis, absence of steatosis, poor regeneration and histochemical copper staining.|SNOMEDCT_US|N|
C4274888|This syndrome is characterized by cleft lip and palate, profound sensorineural deafness and a sacral lipoma. It has been described in two brothers of Chinese origin born to non-consanguineous parents. Additional findings include appendages on the heel and thigh, or anterior sacral meningocele and dislocated hip. The mode of inheritance is probably autosomal or X-linked recessive.|SNOMEDCT_US|N|
C4274889|A rare autosomal dominant disorder characterised by a generalised enlargement of the gingiva occurring at birth or during childhood that is associated with generalised hypertrichosis developing at birth, during the first years of life, or at puberty and predominantly affecting the face, upper limbs, and midback.|SNOMEDCT_US|N|
C4274899|This syndrome has features of infantile hypotonia followed by onset of ataxia, cataract and intellectual deficit by preschool age. Cerebral atrophy also reported. It has been described in four patients from two families.|SNOMEDCT_US|N|
C4274900|This syndrome is characterized by cataracts and short stature associated with variable anomalies, including aberrant oral frenula, a characteristic facial appearance (posteriorly angulated ears, upslanting palpebral fissures, small nose, ptosis and epicanthal folds) cavernous hemangiomas and hernias. It has been described in a mother and her two children. It is transmitted as an autosomal dominant trait.|SNOMEDCT_US|N|
C4274902|A rare chromosomal anomaly from a variable part of chromosome 8. The phenotype of mosaic or non-mosaic supernumerary r(8)/mar(8) ranges from almost normal to variable degrees of minor abnormalities, and growth and intellectual disability overlapping with the well-known mosaic trisomy 8 syndrome.|SNOMEDCT_US|N|
C4274967|A surgically correctable form of primary hyperaldosteronism characterized by renin suppression, unilateral aldosterone hypersecretion, and moderate to severe hypertension secondary to hyperplasia of the adrenal gland. May be associated with hypokalemia, which, when present, may be symptomatic with muscular weakness, cramps, paresthesia or palpitations with or without atrial fibrillation.The etiology is not known. Unilateral adrenalectomy abolishes aldosterone hypersecretion and hypokalemia in most patients.|SNOMEDCT_US|N|
C4274968|Familial autosomal dominant form of arrhythmogenic right ventricular dysplasia, a heart muscle disease with life-threatening ventricular arrhythmias and left bundle branch block configuration that may manifest with palpitations, ventricular tachycardia, syncope and sudden fatal attacks.|SNOMEDCT_US|N|
C4274970|A mild localised form of skeletal dysplasia characterised by delayed, irregular ossification of femoral capital epiphysis. Clinical manifestations may include a waddling gait, genu valgum, hip pain and restricted movement, although these manifestations are usually transient and the majority of patients are asymptomatic.|SNOMEDCT_US|N|
C4274976|Attachment loss of greater than 2 millimeters between the gingival epithelium and the cementoenamel junction in the absence of infection or inflammation.|SNOMEDCT_US|N|
C4274985|A rare congenital facial abnormality with manifestation of failed development of the external nose on one side that is replaced by a tubular structure composed of skin and soft tissue usually attached at the inner canthus of the eye. The disorder is therefore often associated with maldevelopment of the nasal cavity or paranasal sinuses of the affected side. Also associated with other craniofacial abnormalities such as orbital anomalies and cleft lip/palate.|SNOMEDCT_US|N|
C4274989|A severe form of lissencephaly with cerebellar hypoplasia with main features microcephaly of at least 3 standard deviations and a thick cortex associated with complete absence of the corpus callosum.|SNOMEDCT_US|N|
C4274991|A form of lissencephaly with cerebellar hypoplasia with main features of pronounced microcephaly, intellectual disability, spastic diplegia and moderate to severe cerebellar hypoplasia involving both vermis and hemispheres.|SNOMEDCT_US|N|
C4274992|A severe form of lissencephaly with cerebellar hypoplasia with main features of severe microcephaly, cleft palate, and severe cerebellar and brainstem hypoplasia leading to neonatal death.|SNOMEDCT_US|N|
C4274993|A form of lissencephaly with cerebellar hypoplasia with main features of subtle microcephaly, hypotonia and neurological and cognitive development delay. Hippocampal malformation is a characteristic feature on imaging.|SNOMEDCT_US|N|
C4274995|Lissencephaly with cerebellar hypoplasia (LCH) is a variant form of lissencephaly and involves a heterogeneous group of cortical malformations without severe congenital microcephaly (>-3 SD). LCH is characterized by cerebellar underdevelopment ranging from vermian hypoplasia to total aplasia with classical or cobblestone lissencephaly. The phenotypic features of LCH include small head circumference (between -2 and -3 standard deviations (SD) forage) at birth and postnatally, moderate to severe intellectual disability, hypotonia and spasticity. Seizures are often observed and infantile spasms have been reported in some rare cases. LCH has been classified into six subgroups according to neuroradiographic properties and are classified LCH type A to F.|ORDO|N|
C4275006|RAVINE syndrome is an extremely rare genetic neurological disorder reported in a small number of patients in a specific community on Reunion Island (France) with manifestation of infantile anorexia, irrepressible and repeated vomiting, acute brainstem dysfunction, severe failure to thrive, and progressive encephalopathy with MRI showing vanishing of posterior fossa along with supra-tentorial periventricular white-matter hyperintensities and basal ganglion anomalies.|SNOMEDCT_US|N|
C4275008|A form of potassium-aggravated myotonia which shows dramatic improvement with the use of acetazolamide. Symptoms generally manifest during childhood (before 10 years old), with myotonia of the facial, limbs and/or intercostal muscles that is triggered by potassium ingestion, fasting and mildly by cold exposure and exercise. Muscle stiffness is generally painful. Acetazolamide-responsive myotonia is a sodium muscle channelopathy due to missense mutations of the SCN4A gene, encoding the alpha subunit of the skeletal muscle voltage-gated sodium channel Nav1.4. Transmission is autosomal dominant.|SNOMEDCT_US|N|
C4275019|A rare neurometabolic disorder with features of seizures, progressive encephalopathy and lens dislocation. The prevalence is unknown but is very rare. Symptoms usually occur within the first week after birth with feeding difficulties, vomiting and seizures which are difficult to control. The majority of patients exhibit facial dysmorphism. The course is progressive, with spasticity, severe intellectual deficit, and microcephaly seen in survivors. Lens dislocation usually occurs late in infancy but has been observed as early as two months of age. A late onset form with a milder phenotype has also been described. Caused by a mutation in the SUOX gene (12q13.13). The disease follows an autosomal recessive pattern of inheritance.|SNOMEDCT_US|N|
C4275027|Main features described as symmetrical bradykinesia, predominantly axial rigidity, postural instability with early falls and cognitive decline with prominent features of frontal lobe dysfunction. Prevalence is unknown, but a higher number of cases have been described in the French West Indies. This form of atypical parkinsonism may be related to exposure to tropical plants containing mitochondrial complex I inhibitors. Guadelupian parkinsonism may actually be a tauopathy identical or closely related to progressive supranuclear palsy. Most patients are L-dopa unresponsive.|SNOMEDCT_US|N|
C4275028|A very rare chromosomal anomaly in which both copies of chromosome 20 are inherited from the father. The main features described are high birth weight and/or early-onset obesity, relative macrocephaly, and tall stature. Most patients were ascertained through sporadic pseudohypoparathyroidism type 1b and have paternal UPD20 involving variable segments of the long arm of chromosome 20.|SNOMEDCT_US|N|
C4275029|The Mulchandani-Bhoj-Conlin syndrome (MBCS) is characterized by prenatal growth restriction, severe short stature with proportional head circumference, and profound feeding difficulty (Mulchandani et al., 2016).|OMIM|N|
C4275062|A congenital enteropathy presenting with early-onset severe intractable diarrhoea sometimes causing irreversible intestinal failure. Infants develop a watery diarrhoea within the first days after birth and the diarrhoea persists in spite of bowel rest and parenteral nutrition. Some infants are reported to have associated choanal, rectal or oesophageal atresia. Autosomal recessive transmission but the causative gene has not been yet identified.|SNOMEDCT_US|N|
C4275063|Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis is a type 2 collagen-related bone disorder characterized by precocious, generalized osteoarthritis (with onset as early as childhood) and mild, dysplastic spinal changes (flattening of vertebrae, irregular endplates and wedge-shaped deformities) resulting in a mildly short trunk.|ORPHANET|N|
C4275064|Pituitary deficiency due to a disorder that involves the sella turcica, a bony structure at the base of the brain that surrounds and protects the pituitary gland.|SNOMEDCT_US|N|
C4275066|A severely disabling disease with manifestation of progressive groin pain, a limping gait, leg length discrepancy, collapse of the subchondral bone, limitation of hip function and eventual degeneration of the hip joint requiring total hip arthroplasty. Familial forms appear to be very rare, with only three families identified so far. Age of onset in these familial cases ranges from 15-48. Transmission in familial cases is autosomal dominant and mutations in the type II collagen gene (COL2A1) have been detected in affected family members.|SNOMEDCT_US|N|
C4275067|Hereditary transthyretin related systemic amyloidosis with predominant cardiac involvement resulting from myocardial infiltration of abnormal amyloid protein. Prevalence is unknown, patients present during adulthood with restrictive cardiomyopathy. Over 80 pathogenetic mutations in the TTR gene (18q12.1) have been reported so far. Transmitted as an autosomal dominant trait.|SNOMEDCT_US|N|
C4275068|This syndrome is characterised by chronic diarrhoea in infancy or childhood in association with intestinal glucoamylase deficiency. The prevalence is unknown. Patients with chronic diarrhoea and glucoamylase deficiency may also display other disaccharidase deficiencies (sucrase, and lactase) and signs of small intestinal mucosal injury (secondary glucoamylase deficiency). No causative mutations in the maltase-glucoamylase gene have been identified so far. Patients generally respond to a starch-free diet.|SNOMEDCT_US|N|
C4275075|Refers to a heterogeneous group of cases that are clinically diagnosed as Werner syndrome but that do not carry WRN gene mutations. Similar to classical Werner Syndrome caused by WRN mutations, patients generally exhibit an aged appearance and common age-related disorders at earlier ages compared to the general population. Compared to Werner Syndrome, it has an earlier age of onset (early 20s or earlier) and a more rapid rate of progression.|SNOMEDCT_US|N|
C4275076|Chondrodysplasia punctata syndrome with stippled epiphyses, mild facial anomalies, short stature, and ocular colobomata. Congenital heart disease and central nervous system anomalies are also reported.|SNOMEDCT_US|N|
C4275078|Primary progressive freezing gait is a rare, heterogeneous, progressively incapacitating neurodegenerative disease characterized by freezing of gait (usually during the first 3 years), later associating postural instability, eventually resulting in a wheelchair-bound state. Other features may include mild bradykinesia, rigidity, postural tremor, hyperreflexia, speech disorder and dementia. The disease is unresponsive to dopaminergic treatments.|ORDO|N|
C4275079|A rare progressive neurodegenerative disorder with typical onset between 50 and 65 years of age. Manifestation is of progressive impairment of higher visual processing skills and other posterior cortical functions without any evidence of ocular abnormalities. Prevalence is unknown, largely due to the lack of awareness of the syndrome and the inaccurate terminology referring to it. Alzheimer''s disease is the most common underlying pathology, but cases attributable to Dementia with Lewy Bodies, corticobasal degeneration or prion disease have also been reported.|SNOMEDCT_US|N|
C4275090|A rare rhythm disorder with sustained tachycardia in newborns and infants and an atrial rate often at around 440 beats/minute. May manifest as asymptomatic tachycardia, congestive heart failure or hydrops.|SNOMEDCT_US|N|
C4275100|Rare syndrome with manifestations of mirror polydactyly, vertebral hypersegmentation and severe congenital limb deficiencies. Duodenal atresia and absent thymus also reported. So far, it has been described in four unrelated infants, it is suggested that the syndrome is caused by defective expression of a developmental control gene.|SNOMEDCT_US|N|
C4275113|Infancy-onset olivopontocerebellar atrophy, sensorineural deafness and speech impairment. It has been described in less than 15 children. Most cases were sporadic, but autosomal recessive inheritance was suggested in three cases.|SNOMEDCT_US|N|
C4275138|A group of symptoms which may be observed in the fetus or newborn when the mother has taken indomethacin, a nonsteroidal anti-inflammatory drug during pregnancy. The drug crosses the human placenta readily throughout gestation, but its effects on the embryo/fetus vary according to the stage of pregnancy.|SNOMEDCT_US|N|
C4275139|Cerebellar hypoplasia-tapetoretinal degeneration syndrome is a rare syndrome with a cerebellar malformation as a major feature characterized by cerebellar hypoplasia, bilateral retinal pigmentary changes, intellectual disability that can range from mild to moderate and pronounced language development delay. It presents with early developmental delay, central and peripheral non-progressive visual impairment or asymptomatic retinal changes, hypotonia, non-progressive ataxia and nystagmus.|ORDO|N|
C4275141|A rare epilepsy typically characterized by isolated focal motor and somatosensory seizures. Less frequently other focal seizure types, with or without secondary generalization, have been described. The seizures usually happen when the patient is awake and take a benign course. The condition is transitory, interictal examinations are normal, and there is usually no family history of epilepsy.|ORDO|N|
C4275151|A diagnosis of exclusion, when neither associated malformations nor family history are present, and in the absence of mutations of genes known to be involved in classic lissencephaly. Clinically patients present with the common features of classic lissencephaly such as developmental delay, intellectual disability, and seizures.|SNOMEDCT_US|N|
C4275152|Neoplasm of the heart that manifests in adults, 75% of heart tumours are benign, with myxoma being the most common benign tumour.|SNOMEDCT_US|N|
C4275153|A rare condition characterised by generalised, partial, target tissue resistance to glucocorticoids. The clinical spectrum of the condition is broad, ranging from asymptomatic to severe cases of hyperandrogenism, fatigue and/or mineralocorticoid excess. The molecular basis of glucocorticoid resistance has been ascribed to mutations in the GR gene.|SNOMEDCT_US|N|
C4275171|A very rare chromosomal disorder of unknown prevalence with characteristics of multiple craniofacial (microcephaly and eye, ear, and nose deformities), limb and other multiple organ abnormalities, growth and motor retardation and intellectual deficit. The syndrome is frequently lethal. The deletions include 17(q21.3q23), 17(q21.3q24.2), 17(q23.q24.3) and 17(q23.1q24.2).|SNOMEDCT_US|N|
C4275172|Abdominal aortic aneurysm is a multifactorial disorder with multiple genetic and environmental risk factors. The disorder may occur as part of a heritable syndrome or in isolation (summary by Kuivaniemi et al., 2003).
Genetic Heterogeneity of Abdominal Aortic Aneurysm
Mapped loci for abdominal aortic aneurysm include AAA1 on chromosome 19q13; AAA2 (609782) on chromosome 4q31; AAA3 (611891) on chromosome 9p21; and AAA4 (614375) on chromosome 12q13.|OMIM|N|
C4275179|A form of Parkinson disease with age of onset between 21 and 45 years, rigidity, painful cramps followed by tremor, bradykinesia, dystonia, gait complaints, falls and other non-motor symptoms. A slow disease progression and a more pronounced response to dopaminergic therapy are also observed in most forms. The exact etiology is still unknown. Gene mutations have been implicated in some cases, most cases are sporadic however familial cases have been reported in which an autosomal recessive mode of inheritance has been suggested.|SNOMEDCT_US|N|
C4275180|A rare inherited defect of the final step of aldosterone biosynthesis (conversion of deoxycorticosterone to aldosterone). It is due to mutations of the /CYP11B2/ (aldosterone synthase) gene and usually presents in infancy as a life-threatening electrolyte imbalance.|SNOMEDCT_US|N|
C4275183|Congenital lactic acidosis is defined by the presence of a metabolic acidosis due to the accumulation of lactic acid in blood. Congenital defects of any one of the multiple enzymatic steps of pyruvate utilisation induce accumulation of pyruvate and lactate, but usually to levels that do not provoke metabolic acidosis. Lactic acidosis is therefore an extreme situation, due either to very severe defects or to acute metabolic crisis associated with less severe defects. It occurs mostly in neonates or very young infants, with polypnoea, severe hypotonia, lethargy, and vomiting, after a silent period during which the children were considered as normal. Facial dysmorphism and cerebral malformations may be noted, as well as diverse organ involvement such as hypertrophic myocardiopathy, tubulopathy, or liver insufficiency.|SNOMEDCT_US|N|
C4275241|A rare genetic eye disease characterized by abnormal proliferation of retinal tissue resulting in the formation of retinal folds, thereby causing gliosis and, clinically, variable degrees of visual impairment. No clinical findings other than those associated with the eyes have been demonstrated.|ORDO|N|
C4275242|Sensorineural hearing loss which develops suddenly over a period of hours or a few days. It varies in severity from mild to total deafness. Sudden deafness can be due to head trauma, vascular diseases, infections, or can appear without obvious cause or warning.|MONDO|N|
C4275243|Potential for an imbalance of electrolyte levels outside the therapeutic range, providing a susceptibility to compromised health.|PNDS|N|
C4275250|A group of anomalies that may result from maternal infection and subsequent fetal infection with the Herpes virus. The virus causes recurrent cutaneous infections in adults, often involving the lips or the genitalia. Herpes infections in other organs, such as the liver or central nervous system, are less frequent. Pregnancy complications including preterm delivery, intrauterine growth retardation, and neonatal infection have been attributed to the Herpes virus. Exposure of the fetus to Herpes virus at the time of delivery carries a serious risk of infection for the newborn.|SNOMEDCT_US|N|
C4275251|Acquired developmental anomaly syndrome characterised by skin, neural, ocular, limbs and growth defects secondary to Varicella-Zoster virus infection.|SNOMEDCT_US|N|
C4275281|A teratogenic disorder associated with intrauterine exposure to phenobarbital during the first trimester of pregnancy. Infants are usually asymptomatic but at an increased risk of intellectual disability, tetralogy of Fallot, unilateral cleft lip, hypoplasia of the mitral valve and some other mild abnormalities such as hypertelorism.|SNOMEDCT_US|N|
C4277512|Abnormal accumulation of lymph in the arm, shoulder and breast area associated with surgical treatment (e.g., MASTECTOMY) or radiation treatment of breast cancer.|MSH|N|
C4277533|A tear or separation of the layers by a blood vessel typically involving vessels under pressure, i.e., ARTERIES, e.g., AORTA. Tearing of the TUNICA INTIMA layer of a blood vessel may lead to interstitial HEMORRHAGE. Dissection between the tunica intima and TUNICA MEDIA causes luminal occlusion. Dissection at the media, or between the media and the outer ADVENTITIA causes aneurismal dilation.|MSH|N|
C4277538|A cytogenetic abnormality characterized by the occurrence of a large number of chromosomal rearrangements that are restricted to sites in one or a few chromosomes. Chromothripsis may result from a single catastrophic event that causes multiple double-strand breaks, which are subsequently repaired or reassembled by error-prone DNA repair pathways or through aberrant DNA replication mechanisms.|NCI|N|
C4277572|Inter-role conflict in which work and family demands are mutually incompatible so that meeting demands in one prevents you from meeting demands in the other.|MSH|N|
C4277599|Difference between observed and ideal DELIVERY OF HEALTH CARE and healthcare outcomes that reflect the current state of knowledge.|MSH|N|
C4277639|Acute onset of fever accompanied by seizures, cerebral inflammation and a change in mental status (e.g., confusion, disorientation, and coma).|MSH|N|
C4277642|Mental fatigue experienced by health care providers who encounter numerous alerts and reminders from the use of CLINICAL DECISION SUPPORT SYSTEMS. As the numbers of alerts and reminders designed to provide meaningful assistance to the patient care process increases, many health personnel may ignore them.|MSH|N|
C4277682|A spectrum of clinical liver diseases ranging from mild biochemical abnormalities to ACUTE LIVER FAILURE, caused by drugs, drug metabolites, herbal and dietary supplements and chemicals from the environment.|MSH|N|
C4277690|A genetic disorder of the cellular cilia or the cilia anchoring structures, the basal bodies, or of ciliary function.|MONDO|N|
C4277733|A statistically significant minimum set of clinical outcomes that demonstrates a clinical benefit of an intervention or treatment.|MSH|N|
C4277745|Inflammation (tendinitis) or degeneration (tendinosis) of the tendons of the elbow.|MSH|N|
C4279957|Infections with bacteria LEPTOSPIRA POMONA.|MSH|N|
C4280290|Absence or underdevelopment of the nasopharyngeal adenoids.|HPO|N|
C4280680|A neurenteric cyst located within the skull.|HPO|N|
C4280681|Feeding problem necessitating gastrojejunal tube feeding.|HPO|N|
C4280682|Tiny, repetitive muscle contractions in the eyelids, causing the appearance of twitching.|HPO|N|
C4280683|A malignant epithelial tumor with a glandular organization that originates in the intestines.|HPO|N|
C4280684|A region of high intensity (brightness) observed upon magnetic resonance imaging (MRI) scans of the spinal cord.|HPO|N|
C4280687|Abnormal increase in muscle size and mass of one or both arms not due to training.|HPO|N|
C4280689|An abnormal decrease in the size of nasopharyngeal adenoids.|HPO|N|
C4280690|Absence of the nasopharyngeal adenoids as a developmental defect.|HPO|N|
C4280691|Underdevelopment of the nasopharyngeal adenoids.|HPO|N|
C4280692|A deviation in the size of nasopharyngeal adenoids.|HPO|N|
C4280697|A cutaneous indentation resulting from tethering of the skin to underlying structures (bone) of the hand.|HPO|N|
C4280698|Reduced prothrombin antigen as measured by ELISA assay. Prothrombin is a vitamin K-dependent coagulation factor that is proteolytically cleaved to form thrombin.|HPO|N|
C4280699|Reduced level of plasminogen activator inhibitor 1 antigen.|HPO|N|
C4280700|Reduced activity of plasminogen activator inhibitor 1. This protein down-regulates fibrinolysis in the circulation by inhibiting the two major plasminogen activators|HPO|N|
C4280701|Abnormally decreased length of time required for an in vitro clot to dissolve in the absence of the normal plasmin inhibitors. This test is a clinical assay used to measure fibrinolysis. The euglobulin fraction of plasma is precipitated and used to form clot by addition of thrombin; after clot forms the rate of clot breakdown (fibrinolysis) can be monitored.|HPO|N|
C4280702|Reduced antithrombin antigen. A reduced level of antithrombin may lead to an increased risk of thrombus formation.|HPO|N|
C4280703|Reduced activity of alpha-2-antiplasmin. This protein inactivates the protease plasmin that drives fibrinolysis.|HPO|N|
C4280704|Increased time to coagulation in the Russell's viper venom assay|HPO|N|
C4280705|Abnormally increased length of time required for an in vitro clot to dissolve in the absence of the normal plasmin inhibitors. This test is a clinical assay used to measure fibrinolysis. The euglobulin fraction of plasma is precipitated and used to form clot by addition of thrombin; after clot forms the rate of clot breakdown (fibrinolysis) can be monitored.|HPO|N|
C4280706|Increased platelet agglutination in response to low-dose ristocetin|HPO|N|
C4280707|An increased VWF propeptide to VWF antigen indicates that deficiency of VWF is not due to impaired synthesis but due to rapid clearance. The VWF propeptide is measured by ELISA.|HPO|N|
C4280708|Increased plasma vitamin K epoxide after vitamin K supplementation is present in VKCFD (vitamin K-dependent clotting factor deficiency) type 2, but not in VKCFD type 1.|HPO|N|
C4280709|An impairment of the migration of neutrophils towards chemoattractants as part of the innate immune response|HPO|N|
C4280710|Impaired binding of factor VIII to von Willebrand Factor. This is determined using a modified ELISA assay.|HPO|N|
C4280711|The presence of intraceullar inclusion bodies (aggregates of stainable substances, usually proteins) in leukocytes.|HPO|N|
C4280712|Abnormal bleeding related to a procedure or trauma which does not start at the time of the initial insult, but after delay by at least 24 hours.|HPO|N|
C4280714|The tPA protein catalyzes the conversion of plasiminogen to plasmin, and thus break down of clots. When there is a deficiency there will be an increase of thrombosis|HPO|N|
C4280715|A decreased level of Plasminogen|HPO|N|
C4280716|Decrease of these levels result in increased inhibition of fibrinolysis and reduced inhibition of coagulation|HPO|N|
C4280717|An abnormality of coagulation related to a decreased concentration of heparin co-factor II|HPO|N|
C4280718|A decrease in high molecular weight von Willebrand factor multimers.|HPO|N|
C4280719|Clincial phenotype characterized by delayed bleeding accelerated break down of blood clot (fibrinolysis)|HPO|N|
C4280721|An increased tendency towards thrombosis in the mother during a pregnancy.|HPO|N|
C4280724|A elevation in the rate of apoptosis in lymphocytes.|HPO|N|
C4280725|A anomaly in the rate of programmed cell death (apoptosis) in lymphocytes.|HPO|N|
C4280726|Increased susceptibility to parasitic infections, as manifested by recurrent episodes of parasitic infection.|HPO|N|
C4280729|Abnormally low FEV1/FVC (FEV1 - forced expiratory volume in 1 second; FVC forced vital capacity).|HPO|N|
C4280730|A functional anomaly of that portion of the cardiosvascular system that carries deoxygenated blood from the heart to the lungs and returns oxygenated blood back to the heart.|HPO|N|
C4280731|Oxygen saturation less than 95% on exertion or arterial partial pressure of oxygen falling by more than 1kPa.|HPO|N|
C4280732|The presence of autoantibodies (immunoglobulins) in the serum that react against the centromeres or centromere components.|HPO|N|
C4280733|An abnormality of the cardiac ventricular function.|HPO|N|
C4280734|Osteoarthritis of facet joints in the spine. Degeneration of cartilage in the facet joints results in bone rubbing on bone and reactive new bone formation visible on X-ray.|HPO|N|
C4280735|An anomaly of the small joints located between and behind adjacent vertebrae.|HPO|N|
C4280736|Abnormally increased size of the knee joint.|HPO|N|
C4280737|Abnormal increased size of the elbow joint.|HPO|N|
C4280738|Increased concentration of amyloid in the cerebrospinal fluid (CSF).|HPO|N|
C4280739|Reduced concentration of amyloid in the cerebrospinal fluid (CSF).|HPO|N|
C4280740|Abnormal concentration of amyloid in the cerebrospinal fluid (CSF).|HPO|N|
C4280741|The presence of autoantibodies (immunoglobulins) in the serum that react against topoisomerase I.|HPO|N|
C4280742|An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the eye that is worse in certain directions of gaze and during prolonged gaze holding.|HPO|N|
C4280743|Reduced amplitude of the pulse pressure (systolic blood pressure minus diastolic blood pressure).|HPO|N|
C4280744|An anomaly of venous function.|HPO|N|
C4280745|Heliotrope rash is a violaceous discoloration of the eyelids associated with periorbital edema.|HPO|N|
C4280746|Absent response to a pattern electroretinogram (PERG).|HPO|N|
C4280747|Incidents in which a piece of food or other objects get stuck in the upper airway and provoke coughing, gagging, inability to talk, and difficulty breathing.|HPO|N|
C4280748|Change in the color of the fundus from red in the dark-adapted state to golden immediately or shortly after the onset of the light. The color of the fundus reflex in the light adapted state has also been described as golden-yellow, gray-white, and yellow-white. This reflex can appear either homogeneous or in streaks in the fundus. The retinal vessels appear to be protruding in contrast to the radiant background. Dark adaptation leads to disappearance of the unusual fundus coloration [Digital Journal of Ophthalmology 2008; Volume 14, Number 14].|HPO|N|
C4280749|Upper eyelid partly covered by skin when eyes are open.|HPO|N|
C4280750|Lower eyelid partly covered by skin when eyes are open.|HPO|N|
C4280751|Nails that slope upward at the free edge.|HPO|N|
C4280752|Severe nail curvature, causing the tip of the nail to point downwards with respect to the axis of the finger. Beaked nails are caused by resorption of the distal digit.|HPO|N|
C4280753|A phenomenon of orange colored oral tonsils. This feature is characteristic of Tangier disease and illustrated will by Figure 1 of PMID:19470903.|HPO|N|
C4280754|Any functional anomaly of the tongue.|HPO|N|
C4280755|Any structural anomaly of the tongue.|HPO|N|
C4280756|The cuticle (properly known as the eponychium, or the medial nail fold or the proximal nail fold), is the thickened layer of skin surrounding fingernails and toenails. Its function is to protect the area between the nail and epidermis from exposure to bacteria. This term refers to the presence of and irregular edge or outline of the cuticle.|HPO|N|
C4280757|Nails whose growth is quicker than normal.|HPO|N|
C4280758|Lack of the lunula at the base of a nail. The lunula is the crescent-shaped whitish area of the bed of a fingernail or toenail.|HPO|N|
C4280759|A decreased ability of the eye to adjust and thereby enable sharp vision of objects at different distances.|HPO|N|
C4280760|An anomaly in the process of visual accommodation, which is the process of adjustment of the eye to enable sharp vision of objects at different distances. Accommodation is mediated by contraction of the ciliary muscles, which alter the convexity of the lens and, consequently, its refractive power.|HPO|N|
C4280761|The stria terminalis is a slender, compact fiber bundle that connects the amygdala (amygdaloid body) with the hypothalamus and other basal forebrain regions. The bed nucleus of the stria terminalis is a limbic forebrain structure that receives heavy projections from, among other areas, the basolateral amygdala, and projects in turn to hypothalamic and brainstem target areas that mediate many of the autonomic and behavioral responses to aversive or threatening stimuli. This term refers to an anomaly of the bed nucleus.|HPO|N|
C4280762|A diminished volume of the central part of the bed nucleus of the stria terminalis.|HPO|N|
C4280763|An elevated concentration of C-peptide in the circulation. Since C-peptide is secreted in equimolar amounts to insulin, this feature correlates with increased insulin secretion.|HPO|N|
C4280764|A decreased concentration of C-peptide in the circulation. Since C-peptide is secreted in equimolar amounts to insulin, this feature correlates with reduced insulin secretion.|HPO|N|
C4280765|An anomolous circulating concentration of the connecting (C) peptide, which links the insulin A and B chains in proinsulin, providing thereby a means to promote their efficient folding and assembly in the endoplasmic reticulum during insulin biosynthesis. After cleavage of proinsulin, C-peptide is stored with insulin in the soluble phase of the secretory granules and is subsequently released in equimolar amounts with insulin, providing a useful independent indicator of insulin secretion.|HPO|N|
C4280766|Abnormal enlargement in the upper jaw (maxilla) or in the lower jaw (mandible).|HPO|N|
C4280767|A structural anomaly of the jaw, the bony structure of the mouth that consists of the mandible and the maxilla.|HPO|N|
C4280768|An anomolous earwax color. Earwax (cerumen) is usually light to dark brown or orange in color.|HPO|N|
C4280769|Any anomaly of the cerumen (ear wax), the yellowish waxy substance secreted in the ear canal.|HPO|N|
C4280770|A lymphangioma (congenital malformation consisting of focal proliferations of well-differentiated lymphatic tissue in multi cystic or sponge like structures) located within the mediastinum, i.e., the central compartment of the thoracic cavity that is surrounded by loose connective tissue. Mediastinal lymphangioma is a slow growing mass with benign features, and accounts for 1% of all mediastinal tumors.|HPO|N|
C4280771|The concentration of interleukin-6 in the blood circulation is above the upper limit of normal.|HPO|N|
C4280773|A higher than normal levels of the fatty acids which can occur in plasma as a result of lipolysis in adipose tissue or when plasma triacyglycerols are taken into tissues.|HPO|N|
C4280774|An anomaly of the protein C anticoagulant pathway, which serves as a major system for controlling thrombosis, limiting inflammatory responses, and potentially decreasing endothelial cell apoptosis in response to inflammatory cytokines and ischemia. A natural anticoagulant system denoted the protein C pathway exerts its anticoagulant effect by regulating the activity of FVIIIa and FVa. The vitamin K-dependent protein C is the key component of the pathway. Activated protein C (APC) cleaves and inhibits coagulation cofactors FVIIIa and FVa, which result in downregulation of the activity of the coagulation system. The endothelial protein C receptor stimulates the T-TM-mediated activation of protein C on the endothelial cell surface. The two cofactors, protein S and the intact form of FV, enhance the anticoagulant activity of APC.|HPO|N|
C4280775|An abnormal magnetic resonance tomography signal from a vertebral endplate with a low signal on T1 and T2-weighted sequences. Modic type III signals are thought to correspond to subchondral sclerosis seen on plain radiographs.|HPO|N|
C4280776|An abnormal magnetic resonance tomography signal from a vertebral endplate with a high signal on T1-weighted sequences and high- or isointense signal on T2 sequences. Modic type II signals are thought to indicate fatty replacement in the bone marrow.|HPO|N|
C4280777|An abnormal magnetic resonance tomography signal from a vertebral endplate with a low signal on T1-weighted sequences and high signal on T2-weighted sequences. Modic type I changes are thought to represent bone marrow edema and inflammation.|HPO|N|
C4280778|An abnormal magnetic resonance tomography signal from a vertebral endplate according to a widely used classification published by Dr. Michael Modic.|HPO|N|
C4280779|A sheet like projection that can result from uterine synechiae that has been encompassed by the expanding chorion and amnion.|HPO|N|
C4280781|An increase in mean adipocyte cell size. This feature can be measured by determining the average cell diameter of adipocytes microscopically using abdominal subcutaneous adipose tissue obtained by biopsy.|HPO|N|
C4280782|A tooth abscess that occurs at the tip of the root (apex) of a tooth.|HPO|N|
C4280783|Reddish, brown opalescent discoloration of teeth in normal light.|HPO|N|
C4280784|A teratoma located in the craniofacial region.|HPO|N|
C4280785|Loss of one twin occurring after midgestation (17 weeks gestation).|HPO|N|
C4280786|Intraventricular hemorrhage that occurs in a preterm infant and that shows parenchymal extension.|HPO|N|
C4280787|Intraventricular hemorrhage that occurs in a preterm infant and that has extension into dilated ventricles.|HPO|N|
C4280788|Intraventricular hemorrhage that occurs in a preterm infant and that has extension into normal-sized ventricles and typically fills less than 50% of the volume of the ventricle.|HPO|N|
C4280789|Intraventricular hemorrhage that occurs in a premature infant.|HPO|N|
C4280790|A type of persistence of the hyaloid vascular system associated with a retrolental mass that may lead to fetal cataract.|HPO|N|
C4280791|Persistence of a posterior remnant of the hyaloid artery located at the optic disc.|HPO|N|
C4280792|An accessory (not normally present) muscle bundle in the right ventricle which obstructs the right ventricular outflow tract.|HPO|N|
C4280793|A type of sacrococcygeal teratoma that is predominantly intrapelvic with a small external, buttock mass.|HPO|N|
C4280794|A type of sacrococcygeal teratoma that is predominantly external but has a large intrapelvic component.|HPO|N|
C4280795|A type of sacrococcygeal teratoma that is predominantly external and projects from the sacrococcygeal region and presents with distortion of the buttocks.|HPO|N|
C4280796|An abdominal wall defected related to a developmental anomaly of the allantois, which is an embryonic structure that develops as a diverticulum off the yolk sac at about 16 days post fertilization. During further development, the allantois becomes incorporated into the body of the embryo, connecting the ventral aspect of the urogenital sinus (which will develop into the upper pole of the urinary bladder) to the external portion of the umbilicus. Upon further development, the lumen of the allantois becomes obliterated and forms a thick fibrous cord called the urachus, which connects the apex of the bladder to the umbilicus. In adults, the urachus is known as the median umbilical ligament. Failure of the allantoic cavity to obliterate can result of one of four conditions|HPO|N|
C4280797|A herniation of meninges through a congenital bone defect in the skull in the parietal region.|HPO|N|
C4280798|A herniation of meninges through a congenital bone defect in the skull at the junction of the frontal and ethmoidal bones.|HPO|N|
C4280799|A neurenteric cyst located in the spine.|HPO|N|
C4280800|Dilation and elongation of the penile urethra associated with absence or hypoplasia of the corpora spongiosa and cavernosa.|HPO|N|
C4280801|Cyst on the surface of the placenta consisting of amnion and chorion.|HPO|N|
C4280802|Substantial narrowing or blockage of small pulmonary veins as a result of disorganized smooth muscle hypertrophy and collagen matrix deposition.|HPO|N|
C4280804|Mechanical percussion (i.e., striking a muscle with a reflex hammer) leads to spreading waves of muscle contractions that begin proximally and spread laterally across the muscle.|HPO|N|
C4280805|In the NBT test, neutrophils change the colorless compound NBT into a compound with a deep blue color. If this test is negative (i.e., no blue color is produced), then this indicates a defect in superoxide-generating NADPH oxidase activity with inability to efficiently kill phagocytized bacteria.|HPO|N|
C4281559|The X-linked otopalatodigital (X-OPD) spectrum disorders, characterized primarily by skeletal dysplasia, include the following: Otopalatodigital syndrome type 1 (OPD1). Otopalatodigital syndrome type 2 (OPD2). Frontometaphyseal dysplasia type 1 (FMD1). Melnick-Needles syndrome (MNS). Terminal osseous dysplasia with pigmentary skin defects (TODPD). In OPD1, most manifestations are present at birth; females can present with severity similar to affected males, although some have only mild manifestations. In OPD2, females are less severely affected than related affected males. Most males with OPD2 die during the first year of life, usually from thoracic hypoplasia resulting in pulmonary insufficiency. Males who live beyond the first year of life are usually developmentally delayed and require respiratory support and assistance with feeding. In FMD1, females are less severely affected than related affected males. Males do not experience a progressive skeletal dysplasia but may have joint contractures and hand and foot malformations. Progressive scoliosis is observed in both affected males and females. In MNS, wide phenotypic variability is observed; some individuals are diagnosed in adulthood, while others require respiratory support and have reduced longevity. MNS in males results in perinatal lethality in all recorded cases. TODPD, seen only in females, is characterized by a skeletal dysplasia that is most prominent in the digits, pigmentary defects of the skin, and recurrent digital fibromata.|GeneReviews|N|
C4281561|An usually supportive primary person (family member, significant other, or close friend) provides insufficient, ineffective, or compromised support, comfort, assistance, or encouragement that may be needed by the client to manage or master adaptive tasks related to his or her health challenge.|NANDA-I|N|
C4281574|A subjective response indicating that something is or was a large amount.|NCI|N|
C4281601|A developmental defect resulting in the presence of fewer than the normal number of toes.|HPO|N|
C4281741|Increased numbers of mesangial cells per glomerulus, defined as more than 3 nuclei fully surrounded by matrix in one or more mesangial areas, not including perihilar region, on a standard 3-micron-thick tissue section, best evaluated on periodic acid-Schiff (PAS) stain.|HPO|N|
C4281748|The unintentional discharge of a substance from a container or enclosed space.|NCI|N|
C4281749|Endometriosis that affects the vagina. It is characterized by the presence of endometrial stroma with or without endometrial-type glands in the vagina.|NCI|N|
C4281771|Decreased diameter of eyebrow hairs.|HPO|N|
C4281785|A type of epilepsy that presents with daily typical absence seizures usually between 4 to 10 years of age in an otherwise normal child. Absence seizures are brief but may occur in clusters and are provoked by hyperventilation. Development and cognition are typically normal. Neurological examination is normal. The electroencephalogram shows 2.5 to 4 Hz generalised spike-wave and a normal background.|SNOMEDCT_US|N|
C4281786|The presence of foam cells, a type of macrophage that localizes to fatty deposits on blood vessel walls, where they ingest low-density lipoproteins and become laden with lipids, giving them a foamy appearance.|HPO|N|
C4281802|any of various brain diseases in humans and animals in which areas of the brain slowly degenerate and take on a spongy appearance.|CSP|N|
C4281993|Respiratory difficulty as newborn.|HPO|N|
C4281994|The reemergence of lymphoplasmacytic lymphoma after a period of remission.|NCI|N|
C4282073|Presence of an abnormal type of hemoglobin characterized by the subsitution of a glutamic acid residue at position 7 following the initial methionine residue by a valine (the mutation causative of sickle cell disease). The mutation promotes the polymerization of the HbS under conditions of low oxygen concentration. HbS can be identified by multiple methodologies including hemoglobin electrophoresis and high-performance liquid chromatography.|HPO|N|
C4282128|Persistent patency of the ductus arteriosus, or patent ductus arteriosus (PDA), is the second most common congenital heart disease, affecting approximately 1 in 1,600 to 5,000 live births in the U.S. (Mitchell et al., 1971). In fetal life, the ductus arteriosus, a muscular artery, shunts blood from the pulmonary artery to the aorta, bypassing the lungs. Its abrupt closure at birth establishes the mature circulatory pattern and represents a dramatic example of vascular remodeling. Failure of this normal process results in persistent PDA, which left untreated can result in pulmonary hypertension and heart failure. Closure of the ductus is a complex process. Aspects of this process are regulated by oxygen tension and a decrease in levels of hormones such as prostaglandin E2. PDA occurring in preterm infants often closes spontaneously or in response to inhibitors of prostaglandin biosynthesis (Ramsay et al., 1987). Term PDA typically has not been regarded as a genetic disorder, because it most often occurs sporadically. Nonetheless, term PDA recurs among 5% of sibs of PDA cases (Polani and Campbell, 1960; Lamy et al., 1957), suggesting a genetic component to disease pathogenesis that has typically been presumed to be multifactorial. That single genes can influence this trait has been demonstrated by a mouse model of PDA resulting from disruption of the prostaglandin E2 receptor (Nguyen et al., 1997) and by rare syndromic forms of PDA such as Char syndrome (169100), an autosomal dominant disorder caused by mutations in the transcription factor TFAP2B (601601) (Mani et al., 2002).
Genetic Heterogeneity of Patent Ductus Arteriosus
Autosomal dominant forms of patent ductus arteriosus include PDA2 (617035), caused by mutation in the TFAP2B gene (601601) on chromosome 6p12, and PDA3 (617039), caused by mutation in the PRDM6 gene (616982) on chromosome 5q23.
Hajj and Dagle (2012) reviewed the genetics of patent ductus arteriosus in both term and preterm infants, and discussed possible environmental risk factors as well as animal models of PDA.|OMIM|N|
C4282165|The presence of an enlarged lymph node.|NCI|N|
C4282208|A pruritic rash that occurs as consequence of cercariae penetration of the skin after aquatic exposure to animal (usually avian) schistosomes, often in countries non-endemic to human schistosomiasis. The condition is non-invasive and responsive to symptomatic treatment.|NCI|N|
C4282398|Sialidosis is an autosomal recessive disorder characterized by the progressive lysosomal storage of sialylated glycopeptides and oligosaccharides caused by a deficiency of the enzyme neuraminidase. Common to the sialidoses is the accumulation and/or excretion of sialic acid (N-acetylneuraminic acid) covalently linked ('bound') to a variety of oligosaccharides and/or glycoproteins (summary by Lowden and O'Brien, 1979). The sialidoses are distinct from the sialurias in which there is storage and excretion of 'free' sialic acid, rather than 'bound' sialic acid; neuraminidase activity in sialuria is normal or elevated. Salla disease (604369) is a form of 'free' sialic acid disease.
Classification
Lowden and O'Brien (1979) provided a logical nosology of neuraminidase deficiency into sialidosis type I and type II. Type I is the milder form, also known as the 'normosomatic' type or the cherry red spot-myoclonus syndrome. Sialidosis type II is the more severe form with an earlier onset, and is also known as the 'dysmorphic' type. Type II has been subdivided into juvenile and infantile forms. Other terms for sialidosis type II are mucolipidosis I and lipomucopolysaccharidosis.|OMIM|N|
C4283745|Disease with characteristics of delayed motor development, hypotonia and progressive neurodegeneration. To date, it has been described in four boys. The syndrome is caused by mutations affecting the two alleles of the HIBCH gene, encoding 3-hydroxyisobutyryl-CoA hydrolase which is caused by homozygous or compound heterozygous mutation in the HIBCH gene on chromosome 2q32.|SNOMEDCT_US|N|
C4283785|A finding of complete pharyngeal contraction during swallowing.|NCI|N|
C4283786|A finding of oral residue remaining on palate after an individual swallows.|NCI|N|
C4283806|A change in the nucleotide sequence of the PMS1 gene.|NCI|N|
C4283807|A change in the nucleotide sequence of the MSH2 gene.|NCI|N|
C4283818|A finding of oral residue remaining on tongue after an individual swallows.|NCI|N|
C4283841|An autosomal recessive immunodeficiency caused but mutation(s) in the ITK gene, encoding tyrosine-protein kinase ITK/TSK. It is characterized by the early childhood onset of Epstein-Barr virus (EBV)-associated immune dysregulation leading to lymphoma, lymphomatoid granulomatosis, hemophagocytic lymphohistiocytosis, and/or hypogammaglobulinemia.|NCI|N|
C4283842|A response indicating that an individual stayed off cigarettes less than one month since their diagnosis.|NCI|N|
C4283843|A response indicating that it has been less than one month since an individual smoked a cigarette.|NCI|N|
C4283844|A response indicating that an individual stayed off cigarettes more than one year since their diagnosis.|NCI|N|
C4283845|A response indicating that it has been more than one year since an individual smoked a cigarette.|NCI|N|
C4283846|An NIH skin score that has increased by 1 or more points, except 0 to 1.|NCI|N|
C4283847|Either a decrease by 10% predicted absolute value of %FEV1 or an NIH lung symptom score that has increased by 1 or more points, except 0 to 1.|NCI|N|
C4283858|A WHO grade 3 pleomorphic xanthoastrocytoma characterized by the presence of five or more mitoses per 10 high-power fields. Necrosis may be present. Patients have shorter survival rates when compared to those with WHO grade 2 pleomorphic xanthoastrocytoma.|NCI|N|
C4283859|An autosomal dominant genetic disorder caused by mutations in the CDKN2A gene, encoding cyclin-dependent kinase inhibitor 2A. The condition is characterized by cutaneous malignant melanoma associated with this genetic alteration.|NCI|N|
C4283893|Autosomal dominant deafness-66 is a form of nonsyndromic sensorineural hearing impairment with widely variable age at onset (Nyegaard et al., 2015).|OMIM|N|
C4283894|Tonne-Kalscheuer syndrome (TOKAS) is an X-linked recessive multiple congenital anomaly disorder with 2 main presentations. Most patients exhibit global developmental delay apparent from early infancy, impaired intellectual development, speech delay, behavioral abnormalities, and abnormal gait. Affected individuals also have dysmorphic facial features that evolve with age, anomalies of the hands, feet, and nails, and urogenital abnormalities with hypogenitalism. A subset of more severely affected males develop congenital diaphragmatic hernia in utero, which may result in perinatal or premature death. Carrier females may have very mild skeletal or hormonal abnormalities (summary by Frints et al., 2019).
Also see Fryns syndrome (229850), an autosomal recessive disorder with overlapping features.|OMIM|N|
C4283941|An assessment of an individual''s oral impairment during swallowing.|NCI|N|
C4284020|Atelectasis of an entire lung.|NCI|N|
C4284035|A decrease in the size and extent of tissue involvement by cancer, accompanied by an increase in blood lymphocyte count above a predetermined threshold.|NCI|N|
C4284040|Ovarian cancer involving 1 or both ovaries with cytologically or histologically confirmed spread to the peritoneum outside the pelvis and/or metastasis to the retroperitoneal lymph nodes. (FIGO, 2014)|NCI|N|
C4284088|MIRAGE syndrome is an acronym for the major findings of myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy. Cytopenias are typically seen soon after birth; thrombocytopenia is the most common followed by anemia and pancytopenia. Recurrent infections from early infancy include pneumonia, urinary tract infection, gastroenteritis, meningitis, otitis media, dermatitis, subcutaneous abscess, and sepsis. Reported genital phenotypes in those with 46,XY karyotype included hypospadias, microphallus, bifid shawl scrotum, ambiguous genitalia, or complete female genitalia. Hypoplastic or dysgenetic ovaries have been reported in females. Gastrointestinal complications include chronic diarrhea and esophageal dysfunction. Moderate-to-severe developmental delay is reported in most affected individuals. Autonomic dysfunction and renal dysfunction are also reported.|GeneReviews|N|
C4284093|Fanconi anemia (FA) is characterized by physical abnormalities, bone marrow failure, and increased risk for malignancy. Physical abnormalities, present in approximately 75% of affected individuals, include one or more of the following: short stature, abnormal skin pigmentation, skeletal malformations of the upper and/or lower limbs, microcephaly, and ophthalmic and genitourinary tract anomalies. Progressive bone marrow failure with pancytopenia typically presents in the first decade, often initially with thrombocytopenia or leukopenia. The incidence of acute myeloid leukemia is 13% by age 50 years. Solid tumors – particularly of the head and neck, skin, and genitourinary tract – are more common in individuals with FA.|GeneReviews|N|
C4284144|A response indicating that no time was spent on an activity.|NCI|N|
C4284179|A response indicating that an individual used videos to quit smoking cigarettes.|NCI|N|
C4284284|A condition associated with mutation(s) in the DNAJC5 gene, encoding dnaJ homolog subfamily C member 5. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments.|NCI|N|
C4284375|A response indicating that an individual doesn''t know or remember if they stayed off cigarettes since their diagnosis.|NCI|N|
C4284376|A response indicating that an individual doesn''t know and/or remember how long it has been since they last smoked a cigarette.|NCI|N|
C4284395|A finding of residue on pharyngeal wall following swallowing.|NCI|N|
C4284413|Severe fever with thrombocytopenia syndrome (SFTS) is a newly emerging infectious disease.|SNOMEDCT_US|N|
C4284414|Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the LOX gene.|MONDO|N|
C4284416|A change in the amino acid residue at position 515 in the thrombopoietin receptor protein where tryptophan has been replaced by lysine.|NCI|N|
C4284417|A change in the amino acid residue at position 515 in the thrombopoietin receptor protein where tryptophan has been replaced by leucine.|NCI|N|
C4284579|An observation of an individual''s larygeal elevation during swallowing.|NCI|N|
C4284588|A pure or complex form of hereditary spastic paraplegia with characteristics of onset in the first decade of life of spastic paraparesis (more prominent in lower than upper extremities) and unsteady gait, as well as increased deep tendon reflexes, amyotrophy, cerebellar ataxia and flexion contractures of the knees in some.|SNOMEDCT_US|N|
C4284592|Spastic paraplegia, intellectual disability, nystagmus, and obesity (SINO) is an autosomal dominant neurologic disorder characterized by rapid growth in infancy, global developmental delay, spastic paraplegia, variable ophthalmologic defects, and dysmorphic facial features (summary by Josifova et al., 2016).|OMIM|N|
C4284594|Band heterotopia (BH) is a neuronal migration disorder in which aberrantly located neurons, in the form of a band in the brain white matter, are present below a cortex that appears relatively normal by magnetic resonance imaging (MRI). Clinically, patients show severe developmental delay with intellectual disability, seizures, hypotonia, and hydrocephalus (Kielar et al., 2014, Shaheen et al., 2017).|OMIM|N|
C4284595|The ductus arteriosus is a muscular artery connecting the pulmonary artery and the aorta during fetal life, shunting blood away from the lungs. It normally occludes shortly after birth. Failure of ductal closure results in PDA, one of the most common congenital heart defects, affecting 1 in 2,000 to 1 in 5,000 full-term infants and constituting 5% to 7% of all congenital heart defects (summary by Mani et al., 2005). PDA can be an isolated anomaly or occur in association with other congenital anomalies (summary by Khetyar et al., 2008).
For a discussion of genetic heterogeneity of isolated PDA, see PDA1 (607411).|OMIM|N|
C4284790|Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A), which includes both the more severe Walker-Warburg syndrome (WWS) and the slightly less severe muscle-eye-brain disease (MEB), is a genetically heterogeneous autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and early death. The phenotype commonly includes cobblestone (type II) lissencephaly, cerebellar malformations, and retinal malformations. More variable features include macrocephaly or microcephaly, hypoplasia of midline brain structures, ventricular dilatation, microphthalmia, cleft lip/palate, and congenital contractures (Dobyns et al., 1989). Those with a more severe phenotype characterized as Walker-Warburg syndrome often die within the first year of life, whereas those characterized as having muscle-eye-brain disease may rarely acquire the ability to walk and to speak a few words. These are part of a group of disorders resulting from defective glycosylation of DAG1 (128239), collectively known as 'dystroglycanopathies' (Godfrey et al., 2007).
Genetic Heterogeneity of Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies (Type A)
Muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is genetically heterogeneous and can be caused by mutation in other genes involved in DAG1 glycosylation: see MDDGA2 (613150), caused by mutation in the POMT2 gene (607439); MDDGA3 (253280), caused by mutation in the POMGNT1 gene (606822); MDDGA4 (253800), caused by mutation in the FKTN gene (607440); MDDGA5 (613153), caused by mutation in the FKRP gene (606596); MDDGA6 (613154), caused by mutation in the LARGE gene (603590); MDDGA7 (614643), caused by mutation in the ISPD gene (CRPPA; 614631); MDDGA8 (614830) caused by mutation in the GTDC2 gene (POMGNT2; 614828); MDDGA9 (616538), caused by mutation in the DAG1 gene (128239); MDDGA10 (615041), caused by mutation in the TMEM5 gene (RXYLT1; 605862); MDDGA11 (615181), caused by mutation in the B3GALNT2 gene (610194); MDDGA12 (615249), caused by mutation in the SGK196 gene (POMK; 615247); MDDGA13 (615287), caused by mutation in the B3GNT1 gene (B4GAT1; 605517); and MDDGA14 (615350), caused by mutation in the GMPPB gene (615320).|OMIM|N|
C4284791|A finding of residue on tongue base following swallowing.|NCI|N|
C4284917|Decreased activity of the enzyme 3-beta-hydroxysteroid dehydrogenase, associated with mutation(s) in the HSD3B2 gene. The lack of activity of this enzyme produces a type of congenital adrenal hyperplasia.|NCI|N|
C4284930|An observation of the location of pharyngeal residue remaining after an individual swallows.|NCI|N|
C4284931|An observation of the location of oral residue remaining after an individual swallows.|NCI|N|
C4285062|A finding of an absent pharyngeal stripping wave.|NCI|N|
C4285066|A rare B-cell non-Hodgkin lymphoma that is characterized by the abnormal rearrangement of two genes, MYC gene and either BCL2 or BCL6 genes. Patients with this type of lymphoma usually respond poorly to standard treatments and have a poor prognosis.|NCI|N|
C4285075|An observation of an individual''s lip closure during swallowing.|NCI|N|
C4285106|Ovarian cancer involving one or both ovaries with pelvic extension (below the pelvic brim) or primary peritoneal cancer. (FIGO, 2014)|NCI|N|
C4285107|A nucleotide substitution at position *97 in the 3'' untranslated region of the F2 gene where guanine has been mutated to adenine.|NCI|N|
C4285231|Methemoglobinemia and ambiguous genitalia (METAG) is due to isolated 17,20-lyase deficiency, defined by apparently normal 17-alpha-hydroxylase activity but severely reduced 17,20-lyase activity of the CYP17A1 enzyme (609300), which results in sex steroid deficiency but normal glucocorticoid and mineralocorticoid reserve. The clinical phenotype is characterized by male undermasculinization, with absent or disturbed pubertal development in both 46,XY and 46,XX individuals. Mild to severe methemoglobinemia has been reported in these patients (Idkowiak et al., 2012).
Other autosomal recessive methemoglobinemias include types I and II (see 250800), caused by mutation in the CYB5R3 gene (613213). Isolated 17,20-lyase deficiency can also be caused by mutation in the CYP17A1 gene (609300), and mutation in the POR gene can manifest clinically as isolated 17,20-lyase deficiency (see 124015.0016).|OMIM|N|
C4285348|Ovarian cancer with macroscopic, extrapelvic, peritoneal metastasis equal or less than 2 cm +/- positive retroperitoneal lymph nodes. Includes extension to capsule of liver/spleen. (FIGO, 2014)|NCI|N|
C4285597|A type of acelluar casts with positive myoglobin staining A that have a surface composed of granules, which can vary in size. The granules can be rather heterogeneous, ranging from fine (finely granular cast) up to coarse (coarsely granular cast), dark, clear, and pigmented.|HPO|N|
C4285706|A reperfusion syndrome characterized by various pathophysiological processes after CARDIAC ARREST. It may include post-cardiac arrest brain injury (HYPOXIA-ISCHEMIA, BRAIN), cardiocirculatory dysfunction, (e.g., systemic ISCHEMIA), HYPERGLYCEMIA; MULTIPLE ORGAN FAILURE and delayed death.|MSH|N|
C4285731|A central nervous system plasma cell myeloma involving the leptomeninges.|NCI|N|
C4285755|A malignant, high grade neuroendocrine neoplasm that arises from the bladder. This category includes small cell and large cell neuroendocrine carcinoma.|NCI|N|
C4285782|An excessive, irrational, and debilitating fear of carrying out a physical movement due to a feeling of vulnerability to painful injury or reinjury.|HPO|N|
C4285866|A rare condition characterized by bone marrow fat cell atrophy, loss of hematopoietic cells, and bone marrow deposition of extracellular gelatinous substances containing mucopolysaccharides rich in hyaluronic acid. The pathogenesis is unknown. It presents with weight loss and anemia. It has been associated with infections, alcoholism, anorexia nervosa, cachexia, end stage renal disease, and cancers.|NCI|N|
C4285888|A change in the nucleotide sequence of the PIK3CD gene.|NCI|N|
C4285890|An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in a carotid artery.|HPO|N|
C4285914|Polyneuropathy and myopathy arising in intensive care unit patients.|NCI|N|
C4286026|A change in the nucleotide sequence of the MSH3 gene.|NCI|N|
C4286050|A change in the nucleotide sequence of the MLH3 gene.|NCI|N|
C4287589|A non-invasive serous carcinoma arising from the fallopian tube.|NCI|N|
C4287594|A rare, high grade sarcoma that arises from the endometrial stroma. It is characterized by round cell morphology. It was previously also known as undifferentiated uterine sarcoma. In 2014, high grade endometrial stromal sarcoma was reclassified and is currently considered a distinct and rare neoplasm. It appears to have a prognosis that falls between low grade endometrial stromal sarcoma and undifferentiated sarcoma.|NCI|N|
C4287827|A category of staging terms for ovarian cancer according to the International Federation of Gynecology and Obstetrics (FIGO), 2014. AJCC ovarian cancer stage terms from the 6th and 7th editions that are synonymous to the FIGO ovarian cancer staging classification of 2014 are included as preferred terms.|NCI|N|
C4287828|A category of staging terms for ovarian cancer according to the American Joint Committee on cancer (AJCC) 6th and 7th editions. International Federation of Gynecology and Obstetrics (FIGO) ovarian cancer staging terms prior to 2014 are included in this category if synonymous with the AJCC terms.|NCI|N|
C4287831|A cytogenetic abnormality that involves a translocation between chromosomes 11 and 14.|NCI|N|
C4287832|A malignant solid neoplasm that has spread from its original site of growth to another anatomic site.|NCI|N|
C4287833|The measurement of the average rate of blood flow across an area or tissue.|NCI|N|
C4287835|A nucleotide substitution at position 794 of the coding sequence of the MYD88 gene where thymine has been mutated to cytosine.|NCI|N|
C4287837|A response indicating that an individual experiences or experienced some shortness of breath.|NCI|N|
C4287838|A decrease by 50% for ALT, alkaline phosphatase, and total bilirubin.|NCI|N|
C4287840|Tuberculosis disease that is caused by a pre-extensively drug-resistant strain of Mycobacterium tuberculosis.|NCI|N|
C4287841|A subjective score of 3 on a scale that ranges from 0: Did Not Interfere to 10: Interfered Completely.|NCI|N|
C4287846|An uncommon benign polypoid or nodular mesenchymal neoplasm that arises in the vulvar region. It is characterized by the presence of oval or spindle-shaped cells in a collagenous stroma and is separated from the epidermis by a variably thick Grenz zone.|NCI|N|
C4287847|An extremely rare malignant mesenchymal neoplasm of the vulva exhibiting skeletal muscle differentiation with an alveolar pattern.|NCI|N|
C4287849|A benign lesion characterized by the presence of rounded, lobular aggregates of endocervical glands in the cervical wall.|NCI|N|
C4287854|A variation in the amino acid sequence for the fibroblast growth factor receptor 3 protein.|NCI|N|
C4287860|A finding of complete esophageal clearance following swallowing.|NCI|N|
C4287861|A score of 1+ on a comparative scale that ranges from 3+: Very much better to -3: Very much worse.|NCI|N|
C4287862|A variation in the amino acid sequence for the thrombopoietin receptor protein.|NCI|N|
C4287865|A score of 4 on the COXEN Sensitivity Scale.|NCI|N|
C4287866|A score of 30 on the COXEN Sensitivity Scale.|NCI|N|
C4287867|A score of 15 on the COXEN Sensitivity Scale.|NCI|N|
C4287868|A category of mesenchymal gynecologic neoplasms. It includes endometrial stromal nodule, endometrioid stromal sarcoma, and undifferentiated sarcoma. Endometrial stromal nodule has been described in the uterine corpus only. Histologically, it is characterized by the lack of infiltration of the surrounding tissues. Endometrioid stromal sarcoma affects the uterine corpus, and rarely, the ovaries, cervix, vagina, peritoneum, and retroperitoneum. In the uterine corpus it is classified as low grade or high grade endometrial stromal sarcoma. In the remainder of the anatomic sites it is classified as low grade endometrioid stromal sarcoma. Undifferentiated sarcoma was previously also known as high grade endometrial stromal sarcoma. In 2014, high grade endometrial stromal sarcoma was reclassified and is currently considered a distinct and rare neoplasm that affects the uterine corpus only. It appears to have a prognosis that falls between low grade endometrial stromal sarcoma and undifferentiated sarcoma. The latter affects the uterine corpus and rarely the remainder of the anatomic sites.|NCI|N|
C4287874|The direct transmission of an infectious agent to a host by a spray of a relatively large (greater than five microns), short range respiratory aerosol.|NCI|N|
C4287877|A subjective score of 1 on a severity scale that ranges from 0: Not at all severe to 10: most severe.|NCI|N|
C4287881|A response indicating that this is an individual''s first visit to the clinic.|NCI|N|
C4287887|The state when a recipient of a hematopoietic stem cell transplant is not fully matched with their donor for HLA-A, HLA-B, HLA-C, and HLA-DRB1.|NCI|N|
C4287892|An immunohistochemical finding indicating the presence of growth hormone and prolactin producing cells in a tumor.|NCI|N|
C4287893|An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the gastroesophageal junction. It is characterized by the presence of malignant small cells.|NCI|N|
C4287895|A rare serous adenofibroma arising from the broad ligament.|NCI|N|
C4287896|A non-invasive clear cell adenofibromatous neoplasm that arises from the ovary. It is characterized by the presence of atypia in the glandular epithelium.|NCI|N|
C4287897|The integral of all of the flow velocities during the time of blood flow across or within a specified area.|NCI|N|
C4287901|Cervical metaplasia in which the cervical squamous epithelium resembles benign urothelium as a result of a lack of cellular maturation.|NCI|N|
C4287903|A qualitative assesment of the movement of the cardiac muscle, either as a whole or at one or more specific anatomical locations.|NCI|N|
C4287905|A change in the nucleotide sequence of the BRCA2 gene that is associated with increased risk of disease.|NCI|N|
C4287906|The maximum rate of the annular motion during early diastole (passive ventricular filling).|NCI|N|
C4287907|A change in the nucleotide sequence of the STK11 gene.|NCI|N|
C4287910|A subjective rating score of 3 on a linear analogue scale with anchor point descriptions of 0: As bad as it can be and 10: As good as it can be.|NCI|N|
C4287914|A finding of escape beyond the vermilion border during swallowing.|NCI|N|
C4287919|A constellation of findings in male mice characterized by ulceration and/or inflammation of the penis and prepuce, proteinaceous material with inflammatory cells, spermatozoa or desquamated urothelial cells forming a plug in the urethra and generally dilatation of the bladder, hydroureter and hydronephrosis.|NCI|N|
C4287920|The area of the vena contracta of the mitral valve.|NCI|N|
C4287921|A change in the amino acid residue at position 681 in the platelet-derived growth factor receptor beta protein where threonine has been replaced by isoleucine.|NCI|N|
C4287924|Any conservative mutation in the coding region of the TP53 gene that maintains the structure and function of the p53 protein.|NCI|N|
C4287925|A finding of no laryngeal vestibular closure; wide column air/contrast in laryngeal vestibule.|NCI|N|
C4287928|The indirect transmission of an infectious agent to a host via inanimate objects such as food, water, biologic products, or fomites.|NCI|N|
C4287929|A response indicating that an individual used a text message-based smoking cessation program to quit smoking cigarettes.|NCI|N|
C4287932|A change in the nucleotide sequence of the IDH1 or IDH2 gene.|NCI|N|
C4287935|A cytogenetic abnormality that involves a translocation between chromosomes 8 and 14.|NCI|N|
C4287936|A cytogenetic abnormality that involves a translocation between chromosomes 6 and 9.|NCI|N|
C4287937|A cytogenetic abnormality that involves a translocation between chromosomes 6 and 11.|NCI|N|
C4287938|A cytogenetic abnormality that refers to the translocation of the short arm (p16) of chromosome 4 and the long arm (q32) of chromosome 14.|NCI|N|
C4287939|A cytogenetic abnormality that involves a translocation between chromosomes 4 and 11.|NCI|N|
C4287940|A cytogenetic abnormality that involves a translocation occurring within chromosome 3.|NCI|N|
C4287941|A cytogenetic abnormality that involves a translocation between chromosomes 2 and 13.|NCI|N|
C4287942|A cytogenetic abnormality that involves a translocation between chromosomes 21 and 22.|NCI|N|
C4287943|A cytogenetic abnormality that involves a translocation between chromosomes 1 and 19.|NCI|N|
C4287944|A cytogenetic abnormality that involves a translocation between chromosomes 1 and 13.|NCI|N|
C4287945|A cytogenetic abnormality that involves a translocation occurring within chromosome 16.|NCI|N|
C4287946|A cytogenetic abnormality that involves a translocation between chromosomes 15 and 17.|NCI|N|
C4287947|A cytogenetic abnormality that involves a translocation between chromosomes 14 and 18.|NCI|N|
C4287948|A cytogenetic abnormality that involves a translocation between chromosomes 12 and 21.|NCI|N|
C4287949|A cytogenetic abnormality that involves a translocation between chromosomes 11 and 22.|NCI|N|
C4287950|A cytogenetic abnormality that refers to the translocation of the long arm (q22) of chromosome 10 and the short arm (p13) of chromosome 17. It results in an YWHAE-FAM22 fusion. It has been described in high grade endometrial stromal sarcomas and a subset of clear cell sarcomas of the kidney.|NCI|N|
C4287956|Expression of fusion protein YWHAE-FAM22 transcripts resulting from a t(10;17)(q22;p13). The translocation results in rearrangement of the YWHAE gene on chromosome 17 and FAM22 gene on chromosome 10. It has been described in high grade endometrial stromal sarcomas and a subset of clear cell sarcomas of the kidney.|NCI|N|
C4287971|A finding of a wide column of contrast or air between tongue base and posterior pharyngeal wall during swallowing.|NCI|N|
C4287976|A rare variant of papillary thyroid gland carcinoma characterized by the presence of eosinophilic large cells lining the papillae and a brisk lymphoplasmacytic infiltrate in the papillary stalks.|NCI|N|
C4287997|A group of malignant gliomas that includes anaplastic astrocytoma, anaplastic oligodendroglioma, anaplastic oligoastrocytoma, and anaplastic ependymoma.|NCI|N|
C4287998|A rare yolk sac tumor that arises from the vulva.|NCI|N|
C4287999|An intraepithelial lesion of the vulvar squamous epithelium associated with HPV infection. It is characterized by maturation abnormalities and nuclear hyperchromasia that are confined to the basement membrane.|NCI|N|
C4288000|A rare small cell neuroendocrine carcinoma that arises from the vulva.|NCI|N|
C4288001|A benign glandular neoplasm that arises from the vulva. It presents as a mass or cystic lesion in or adjacent to the interlabial sulcus. It is characterized by the presence of complex branching papillae with fibrovascular stalks, lined by uniform columnar epithelial secretory cells and myoepithelial cells.|NCI|N|
C4288002|A neuroendocrine carcinoma that arises from the vulva. This category includes small cell and large cell neuroendocrine carcinoma. Most small cell neuroendocrine carcinomas of the vulva are Merkel cell carcinomas.|NCI|N|
C4288003|A Merkel cell carcinoma that arises from the vulva. It usually presents as a cutaneous nodular lesion. Most small cell neuroendocrine carcinomas of the vulva are Merkel cell carcinomas.|NCI|N|
C4288004|A benign, atypical, or dysplastic melanocytic nevus that arises from the vulva.|NCI|N|
C4288005|An uncommon benign neoplasm of the vulva, composed of lobules of mature adipocytes.|NCI|N|
C4288006|A high grade neuroendocrine carcinoma that arises from the vulva. It is characterized by the presence of malignant large cells.|NCI|N|
C4288007|A keratoacanthoma that arises from the vulva. It grows rapidly and may regress spontaneously. It is considered a variant of well-differentiated squamous cell carcinoma with distinct clinical behavior.|NCI|N|
C4288008|A rare germ cell tumor that arises from the vulva.|NCI|N|
C4288009|A lipoma of the vulva with a predominant fibrous component.|NCI|N|
C4288010|A benign epithelial-stromal neoplasm that arises from the vulva and resembles the breast fibroadenoma.|NCI|N|
C4288011|A rare adenocarcinoma of intestinal type that arises from the vulva. The morphological features are those of a mucinous adenocarcinoma.|NCI|N|
C4288012|A rare adenocarcinoma arising from vulvar skin sweat glands.|NCI|N|
C4288013|A primary invasive malignant epithelial neoplasm of the vulva showing morphological features of recognized breast adenocarcinomas. (WHO, 2014)|NCI|N|
C4288014|The volume of blood remaining in a receptacle chamber at end ventricular systole.|NCI|N|
C4288015|The volume of blood remaining in a receptacle chamber at end ventricular diastole.|NCI|N|
C4288020|A response indicating that an individual is or was very tired.|NCI|N|
C4288021|A response indicating that an individual is or was very short of breath.|NCI|N|
C4288022|A score of 4 on the Combs Prognostic Index scale.|NCI|N|
C4288023|A response indicating that an individual is or was very energetic.|NCI|N|
C4288024|A response indicating a usual walking pace that is very brisk or striding, 4 mph or faster.|NCI|N|
C4288028|The indirect transmission of an infectious agent to a host via another living organism, either through purely mechanical means (e.g., insect bite) or by that organism supporting the growth or changes in the agent that make it infectious to the host.|NCI|N|
C4288032|A rare benign lesion that arises from the vagina. It is characterized by the presence of squamous epithelial and tubular structures in a fibrovascular stroma.|NCI|N|
C4288033|Vaginal metaplasia in which the vaginal surface squamous epithelium resembles benign transitional urothelium.|NCI|N|
C4288034|A rare benign cystic teratoma that arises from the vagina. It presents as a slow growing cyst in the vaginal wall that contains sebaceous material and hair. The cyst is lined by squamous epithelium. Skin adnexal structures and sometimes smooth and skeletal muscle are present.|NCI|N|
C4288035|Vulvovaginal rhabdomyosarcoma is a rare vulvovaginal tumour, a highly malignant soft tissue sarcoma composed of cells with round to oval or spindle-shaped nuclei and eosinophilic cytoplasm that may show differentiation towards striated muscle cells. It usually affects children and presents with a vulvar or vaginal mass that may be polypoid or grape-like (embryonal subtype) and associated with bleeding and ulceration.|ORDO|N|
C4288036|A rare squamous cell carcinoma that arises from the vagina resembling transitional cell carcinoma of the urinary tract.|NCI|N|
C4288037|A rare neuroendocrine carcinoma that arises from the vagina. This category includes small cell and large cell neuroendocrine carcinoma.|NCI|N|
C4288038|An uncommon, benign, well circumscribed mesenchymal neoplasm that grows beneath the vaginal epithelium. It is characterized by the presence of cells containing bland ovoid, spindle, or stellate-shaped nuclei in a collagenous stroma.|NCI|N|
C4288039|A rare, aggressive neuroendocrine carcinoma that arises from the vagina and is characterized by the presence of malignant cells with abundant cytoplasm, large nuclei, and prominent nucleoli.|NCI|N|
C4288040|A germ tumor that arises from the vagina.|NCI|N|
C4288041|A rare benign lesion characterized by the presence of endocervical-type glands in the vaginal wall.|NCI|N|
C4288046|A usually benign neoplasm that arises from the uterine corpus. It resembles ovarian sex cord tumors. It lacks a component of recognizable endometrial stroma and the JAZF1-SUZ12 fusion which is characteristic of the endometrial stromal neoplasms.|NCI|N|
C4288047|Rhabdomyosarcoma of the corpus uteri is an extremely rare, highly malignant soft tissue sarcoma located in the uterine body and arising from primitive mesenchymal cells displaying variable degrees of skeletal muscle differentiation. It most often presents with abnormal vaginal discharge or dysfunctional uterine bleeding, abdominal pain and lower abdominal mass. Association with DICER1 syndrome has been reported.|ORDO|N|
C4288048|An epithelial neoplasm with neuroendocrine differentiation that arises from the uterine corpus. It includes neuroendocrine tumor G1 (carcinoid tumor), small cell carcinoma pulmonary type, and large cell neuroendocrine carcinoma.|NCI|N|
C4288049|A variant of leiomyoma arising from the uterine corpus. It is characterized by conspicuous zonal edema. Hyalinization may also be present.|NCI|N|
C4288050|A benign or malignant germ cell tumor that arises from the uterine corpus. Representative examples include teratoma and yolk sac tumor.|NCI|N|
C4288051|A category of benign or malignant mesenchymal neoplasms that arises from the uterine corpus. This category includes the endometrial stromal nodule which is benign and non-invasive, the endometrial stromal sarcoma, and the undifferentiated uterine sarcoma. The endometrial stromal sarcoma is an invasive malignant neoplasm, further subdivided into low grade and high grade endometrial stromal sarcoma. Undifferentiated uterine sarcoma was previously also known as high grade endometrial stromal sarcoma. In 2014, high grade endometrial stromal sarcoma was reclassified and is currently considered a distinct and rare neoplasm. It appears to have a prognosis that falls between low grade endometrial stromal sarcoma and undifferentiated sarcoma.|NCI|N|
C4288052|A very rare and well-differentiated neuroendocrine tumor that arises from the uterine corpus.|NCI|N|
C4288056|A response indicating that an individual used a telephone help line or quit line to quit smoking cigarettes.|NCI|N|
C4288057|A response indicating that an individual used the support of friends and family to quit smoking cigarettes.|NCI|N|
C4288058|A response indicating that an individual used a quit tobacco clinic, class, or support group to quit smoking cigarettes.|NCI|N|
C4288059|A response indicating that an individual used an internet or web-based program to quit smoking cigarettes.|NCI|N|
C4288060|A response indicating that an individual used books and/or pamphlets to quit smoking cigarettes.|NCI|N|
C4288064|An NIH upper GI score that has increased by 1 or more points, except 0 to 1.|NCI|N|
C4288065|An NIH upper GI score that has decreased by 1 or more points.|NCI|N|
C4288066|An NIH upper GI score of 0 after previous GvHD involvement.|NCI|N|
C4288067|A solid neoplasm that is not amenable to surgical resection.|NCI|N|
C4288069|A finding of unilateral bulging on pharyngeal contraction during swallowing.|NCI|N|
C4288070|The state when a recipient of a hematopoietic stem cell transplantation is not fully matched with their unrelated adult volunteer donor for HLA-A, HLA-B, HLA-C, and HLA-DRB1 and either the recipient or donor is heterozygous at one locus. Occurs when only the donor or recipient is homozygous.|NCI|N|
C4288080|A condition of decreased or absent presence of protein unc-13 homolog D. Deficiency of this protein is associated with familial hemophagocytic lymphohistiocytosis 3.|NCI|N|
C4288084|A response indicating that 2 to 3 hours were spent on an activity.|NCI|N|
C4288085|A response indicating that 2 to 5 hours were spent on an activity.|NCI|N|
C4288086|A response that indicates climbing two or less flights of stairs daily.|NCI|N|
C4288087|A response indicating that 21 to 40 hours were spent on an activity.|NCI|N|
C4288088|A response indicating that 20 to 59 minutes were spent on an activity.|NCI|N|
C4288091|Tubulocystic renal cell carcinoma is an extremely rare subtype of renal cell carcinoma most frequently characterized by a small, solitary, well-circumscribed, unencapsulated renal tumor composed of multiple small to medium-sized cysts with a white or gray, spongy ("bubble wrap-like") cut surface. Patients are usually asymptomatic or could manifest with abdominal pain, abdominal distension and/or hematuria. Progression, recurrence and metastasis rarely occur although lymph node, bone, pleura and liver metastases have been reported.|ORDO|N|
C4288092|Replacement of the endocervical-type epithelium of the cervix by benign tubal or endometrioid epithelium.|NCI|N|
C4288093|Benign proliferation of the fallopian tube epithelium.|NCI|N|
C4288099|The width of the vena contracta of the tricuspid valve.|NCI|N|
C4288100|The area of the vena contracta of the tricuspid valve.|NCI|N|
C4288102|The measured area of the backflow of blood into the right atrium.|NCI|N|
C4288103|A quantitative measurement of the amount of retrograde blood flow across the orifice of the tricuspid valve expressed as a percentage of the anterograde flow.|NCI|N|
C4288104|A relative measurement (ratio or percentage) the tricuspid regurgitant jet area to the right atrial area.|NCI|N|
C4288108|An erosion through the tracheal wall into an artery.|NCI|N|
C4288109|A finding of trace residue within or on pharyngeal structures following swallowing.|NCI|N|
C4288110|A finding of trace residue lining oral structures after swallowing.|NCI|N|
C4288111|A finding of a trace column of contrast or air between tongue base and posterior pharyngeal wall during swallowing.|NCI|N|
C4288112|A finding of a trace column of contrast or air between soft palate and pharyngeal wall during swallowing.|NCI|N|
C4288116|A finding of timely and efficient chewing and mashing prior to swallowing.|NCI|N|
C4288130|A response that indicates climbing three to four flights of stairs daily.|NCI|N|
C4288131|A response indicating that something happens or happened on three or four days.|NCI|N|
C4288137|A response that indicates climbing ten to 14 flights of stairs daily.|NCI|N|
C4288141|A condition of decreased or absent presence of telomerase reverse transcriptase. Deficiency of this protein is associated with autosomal dominant dyskeratosis congenital 2, autosomal recessive dyskeratosis congenita 4, telomere-related pulmonary fibrosis, and bone marrow failure 1.|NCI|N|
C4288142|A condition of decreased or absent presence of telomerase RNA component. Deficiency of telomerase RNA component is associated with autosomal dominant dyskeratosis congenita 1, telomere-related pulmonary fibrosis, and bone marrow failure 2.|NCI|N|
C4288144|The qualitative measurement of the severity of the systolic anterior motion of a cardiac cusp.|NCI|N|
C4288146|A subjective score of 9 on a scale that ranges from 0: Did Not Interfere to 10: Interfered Completely.|NCI|N|
C4288147|A subjective score of 8 on a scale that ranges from 0: Did Not Interfere to 10: Interfered Completely.|NCI|N|
C4288148|A subjective score of 7 on a scale that ranges from 0: Did Not Interfere to 10: Interfered Completely.|NCI|N|
C4288149|A subjective score of 6 on a scale that ranges from 0: Did Not Interfere to 10: Interfered Completely.|NCI|N|
C4288150|A subjective score of 5 on a scale that ranges from 0: Did Not Interfere to 10: Interfered Completely.|NCI|N|
C4288151|A subjective score of 4 on a scale that ranges from 0: Did Not Interfere to 10: Interfered Completely.|NCI|N|
C4288152|A subjective score of 2 on a scale that ranges from 0: Did Not Interfere to 10: Interfered Completely.|NCI|N|
C4288153|A subjective score of 1 on a scale that ranges from 0: Did Not Interfere to 10: Interfered Completely.|NCI|N|
C4288154|A subjective score of 10 on a scale that ranges from 0: Did Not Interfere to 10: Interfered Completely.|NCI|N|
C4288155|A subjective score of 0 on a scale that ranges from 0: Did Not Interfere to 10: Interfered Completely.|NCI|N|
C4288171|A pathologic process that affects the loose connective tissue beneath the mucosa.|NCI|N|
C4288182|A response indicating that an individual is still doing an activity.|NCI|N|
C4288183|A response indicating that an individual stayed off cigarettes less than one day since their diagnosis.|NCI|N|
C4288184|A response indicating that an individual stayed off cigarettes the entire time since their diagnosis.|NCI|N|
C4288192|A response indicating that an individual is or was somewhat tired.|NCI|N|
C4288193|A response indicating that an individual is or has been somewhat dissatisfied or unhappy.|NCI|N|
C4288194|A response indicating that an individual has or had some energy.|NCI|N|
C4288202|A response indicating that an individual smoked at least one puff of a cigarette today.|NCI|N|
C4288203|A response indicating that an individual smoked a cigarette some days.|NCI|N|
C4288204|A response indicating that an individual smoked a cigarette every day.|NCI|N|
C4288212|A finding of slowed tongue motion during swallowing.|NCI|N|
C4288213|A finding of slow prolonged chewing or mashing with complete re-collection prior to swallowing.|NCI|N|
C4288215|An NIH skin score that has decreased by 1 or more points.|NCI|N|
C4288217|An NIH skin score of 0 after previous GvHD involvement.|NCI|N|
C4288218|A response indicating that 61 to 90 hours were spent on an activity.|NCI|N|
C4288219|A response indicating that 6 to 10 hours were spent on an activity.|NCI|N|
C4288233|A subjective score of 9 on a severity scale that ranges from 0: Not at all severe to 10: most severe.|NCI|N|
C4288234|A subjective score of 8 on a severity scale that ranges from 0: Not at all severe to 10: most severe.|NCI|N|
C4288235|A subjective score of 7 on a severity scale that ranges from 0: Not at all severe to 10: most severe.|NCI|N|
C4288236|A subjective score of 6 on a severity scale that ranges from 0: Not at all severe to 10: most severe.|NCI|N|
C4288237|A subjective score of 5 on a severity scale that ranges from 0: Not at all severe to 10: most severe.|NCI|N|
C4288238|A subjective score of 4 on a severity scale that ranges from 0: Not at all severe to 10: most severe.|NCI|N|
C4288239|A subjective score of 3 on a severity scale that ranges from 0: Not at all severe to 10: most severe.|NCI|N|
C4288240|A subjective score of 2 on a severity scale that ranges from 0: Not at all severe to 10: most severe.|NCI|N|
C4288241|A subjective score of 10 on a severity scale that ranges from 0: Not at all severe to 10: most severe.|NCI|N|
C4288242|A subjective score of 0 on a severity scale that ranges from 0: Not at all severe to 10: most severe.|NCI|N|
C4288243|A rare non-invasive tumor that arises from the broad ligament. It is characterized by the presence of serous epithelial cell proliferation and cytological atypia.|NCI|N|
C4288260|A condition of decreased or absent presence of syntaxin-binding protein 2. Deficiency of this protein is associated with familial hemophagocytic lymphohistiocytosis type 5.|NCI|N|
C4288261|A mutation in the STAT3 gene that results in an increase in cytokine-related function. STAT3 mutations of this type are associated with infantile-onset multisystem autoimmune disease.|NCI|N|
C4288262|A mutation in the STAT1 gene that results in an increase in cytokine-related functions associated with IFN-alpha/beta, IFN-gamma, IFN-delta, and IL-27. STAT1 mutations of this type are associated with autosomal dominant immunodeficiency 31C.|NCI|N|
C4288264|A variation in the amino acid sequence for the succinate dehydrogenase [ubiquinone] flavoprotein subunit, mitochondrial protein.|NCI|N|
C4288265|A change in the amino acid sequence at position 544 of the the succinate dehydrogenase [ubiquinone] flavoprotein subunit, mitochondrial protein where arginine has been replaced by tryptophan.|NCI|N|
C4288266|A nucleotide substitution at position 1660 of the coding sequence of the SDHA gene where cytosine has been mutated to thymine.|NCI|N|
C4288267|A change in the nucleotide sequence of the SDHA gene.|NCI|N|
C4288293|A finding of residue on valleculae following swallowing.|NCI|N|
C4288294|A finding of residue on pyriform sinuses following swallowing.|NCI|N|
C4288295|A finding of oral residue remaining on lateral sulci after an individual swallows.|NCI|N|
C4288296|A finding of oral residue remaining on floor of mouth after an individual swallows.|NCI|N|
C4288297|A finding of residue on aryepiglottic folds following swallowing.|NCI|N|
C4288298|A finding of residue collection on oral structures after swallowing.|NCI|N|
C4288301|A finding of repetitive or disorganized tongue motion during swallowing.|NCI|N|
C4288302|Acute lymphoblastic leukemia that occurs in adulthood and does not respond to treatment.|NCI|N|
C4288303|A malignant solid neoplasm that has recurred after a period of remission.|NCI|N|
C4288304|The reemergence of non-squamous non-small cell lung carcinoma after a period of remission.|NCI|N|
C4288305|The reemergence of glioblastoma after a period of remission.|NCI|N|
C4288306|The reemergence of a gastrointestinal stromal tumor after a period of remission.|NCI|N|
C4288307|A qualitative assessment of the status of a biological specimen with regards to a cellular receptor.|NCI|N|
C4288313|A cytogenetic abnormality that refers to any translocation involving the RET gene.|NCI|N|
C4288322|A response indicating that an individual is or was quite a bit of tired.|NCI|N|
C4288323|A response indicating that an individual has or had quite a bit of energy.|NCI|N|
C4288324|A response indicating that an individual is or was quite a bit short of breath.|NCI|N|
C4288329|A subjective rating score of 9 on a linear analogue scale with anchor point descriptions of 0: As bad as it can be and 10: As good as it can be.|NCI|N|
C4288330|A subjective rating score of 8 on a linear analogue scale with anchor point descriptions of 0: As bad as it can be and 10: As good as it can be.|NCI|N|
C4288331|A subjective rating score of 7 on a linear analogue scale with anchor point descriptions of 0: As bad as it can be and 10: As good as it can be.|NCI|N|
C4288332|A subjective rating score of 6 on a linear analogue scale with anchor point descriptions of 0: As bad as it can be and 10: As good as it can be.|NCI|N|
C4288333|A subjective rating score of 5 on a linear analogue scale with anchor point descriptions of 0: As bad as it can be and 10: As good as it can be.|NCI|N|
C4288334|A subjective rating score of 4 on a linear analogue scale with anchor point descriptions of 0: As bad as it can be and 10: As good as it can be.|NCI|N|
C4288335|A subjective rating score of 2 on a linear analogue scale with anchor point descriptions of 0:As bad as it can be and 10: As good as it can be.|NCI|N|
C4288336|A subjective rating score of 1 on a linear analogue scale with anchor point descriptions of 0: As bad as it can be and 10: As good as it can be.|NCI|N|
C4288337|A subjective rating score of 10 on a linear analogue scale with anchor point descriptions of 0: As bad as it can be and 10: As good as it can be.|NCI|N|
C4288338|A subjective rating score of 0 on a linear analogue scale with anchor point descriptions of 0: As bad as it can be and 10: As good as it can be.|NCI|N|
C4288341|The measured width of the backflow of blood into the right ventricular outflow tract.|NCI|N|
C4288342|A relative measurement (ratio or percentage) of the pulmonic regurgitant jet width to the right ventricular outflow tract diameter.|NCI|N|
C4288343|The determination of whether blood flow in the pulmonary veins is greater during ventricular systole or diastole.|NCI|N|
C4288344|The width of the vena contracta of the pulmonic valve.|NCI|N|
C4288345|The area of the vena contracta of the pulmonic valve.|NCI|N|
C4288361|A morphologic finding indicating the presence of an exuberant proliferation of fibroblasts and myofibroblasts in the stroma of a tumor sample.|NCI|N|
C4288371|A serous adenocarcinoma that arises from the lining of the peritoneum. It is characterized by low grade histopathologic features.|NCI|N|
C4288372|A serous adenocarcinoma that arises from the lining of the peritoneum. It is characterized by high grade histopathologic features.|NCI|N|
C4288373|Supranormal glucocorticoid concentrations resulting from a condition originating within the adrenal gland.|NCI|N|
C4288374|An abscess that develops in the tissues within the prevertebral fascia.|NCI|N|
C4288375|There is evidence of disease without evidence of unequivocal progression.|NCI|N|
C4288378|A rare, benign, non-neoplastic reactive lesion that develops in the vagina at the site of a prior operative procedure. It is composed of spindle cells, small blood vessels, and chronic inflammation.|NCI|N|
C4288379|A rare, benign, non-neoplastic reactive lesion that develops in the cervix at the site of a prior operative procedure. It is composed of spindle cells, small blood vessels, and chronic inflammation.|NCI|N|
C4288380|A finding of posterior escape of less than half of bolus during swallowing.|NCI|N|
C4288381|A finding of posterior escape of greater than half of bolus during swallowing.|NCI|N|
C4288383|A score of 3 on the Combs Prognostic Index scale.|NCI|N|
C4288384|A numerical chromosomal abnormality characterized by the presence of more than two copies of chromosome 7 in a cell.|NCI|N|
C4288395|A finding of a pharyngeal stripping wave present but diminished.|NCI|N|
C4288396|A finding of a pharyngeal stripping wave present and complete.|NCI|N|
C4288397|An assessment of an individual''s pharyngeal impairment during swallowing.|NCI|N|
C4288403|A rare, usually benign fibroblastic neoplasm that arises from the peritoneum. It is characterized by the presence of prominent hemangiopericytoma-like vessels.|NCI|N|
C4288404|A desmoplastic small round cell tumor that occurs in the abdominal and/or pelvic peritoneum.|NCI|N|
C4288406|A very rare peripheral T-cell lymphoma with pathologic and clinical features posing difficulty in its exact diagnosis and classification.|NCI|N|
C4288409|A condition of decreased or absent presence of perforin. Deficiency of this protein is associated with T-cell lymphoblastic lymphoma, aplastic anemia, hemophagocytic lymphohistiocytosis familial type 2, autoimmune lymphoproliferative syndrome and other lymphoproliferative disorders, including various forms of lymphoma.|NCI|N|
C4288414|Fibromatosis that occurs in the pelvis. It affects almost always females. It is characterized by the presence of elongated spindle-shaped fibroblasts, collagenous stroma formation, and an infiltrative growth pattern. It recurs if incompletely resected but lacks metastatic potential.|NCI|N|
C4288418|The maximum rate of blood flow across a cardiac valve during early diastole (passive ventricular filling).|NCI|N|
C4288419|The measurement of the maximum rate of blood flow across an area or tissue.|NCI|N|
C4288420|The maximum rate of blood flow across a cardiac valve during late diastole (active ventricular filling).|NCI|N|
C4288444|A finding of minimal superior movement of thyroid cartilage with minimal approximation of arytenoids to epiglottic petiole during swallowing.|NCI|N|
C4288445|A finding of partial superior movement of thyroid cartilage/partial approximation of arytenoids to epiglottic petiole during swallowing.|NCI|N|
C4288447|A finding of partial inversion of epiglottis during swallowing.|NCI|N|
C4288448|A finding of partial distension or partial duration of pharyngoesophageal segment opening during swallowing; partial obstruction of flow.|NCI|N|
C4288449|A finding of partial anterior movement of hyoid during swallowing.|NCI|N|
C4288453|A change in the nucleotide sequence of the PRSS2 gene.|NCI|N|
C4288454|A change in the nucleotide sequence of the PRSS1 gene.|NCI|N|
C4288530|A variation in the amino acid sequence of the platelet-derived growth factor receptor beta protein.|NCI|N|
C4288531|A change in the nucleotide sequence of the PDGRFB gene.|NCI|N|
C4288538|Difference of sex development characterized by the presence of ovarian and testicular tissue in the same individual. The clinical manifestations of the condition, which can be associated with 46,XX, 46,XY or 46,XX/46,XY mosaic karyotype, are variable.|NCI|N|
C4288539|A response indicating that over 90 hours were spent on an activity.|NCI|N|
C4288540|A non-metastasizing cystic mixed epithelial neoplasm that arises from the ovary. It is characterized by the presence of more than one epithelial cell type, most often serous and endocervical-type mucinous.|NCI|N|
C4288541|A non-metastasizing mixed epithelial neoplasm that arises from the ovary. It is characterized by the presence of more than one epithelial cell type, most often serous and endocervical-type mucinous and prominent fibrous stroma.|NCI|N|
C4288542|A retiform Sertoli-Leydig cell tumor that arises from the ovary. It is characterized by the presence of an epithelial and/or mesenchymal heterologous component.|NCI|N|
C4288543|A rare usually bilateral luteinized thecoma that arises from the ovary and is associated with sclerosing peritonitis. It occurs mostly in premenopausal women. The ovarian tumor is benign but patients may develop intestinal obstruction due to the sclerosing peritonitis.|NCI|N|
C4288544|A category of rare neoplasms that arise from the ovary. It includes low grade endometrioid stromal sarcoma and undifferentiated sarcoma.|NCI|N|
C4288545|A rare benign mesothelial tumor that arises from the ovary. It is characterized by the presence of gland-like structures.|NCI|N|
C4288550|A high-grade carcinoma that arises from the oropharynx. It is characterized by the presence of malignant cells which bear minimal resemblance to the cells from which they arose.|NCI|N|
C4288551|A high-grade variant of squamous cell carcinoma that arises from the oropharynx. It is characterized by the presence of small malignant cells with hyperchromatic nuclei and scant amount of cytoplasm forming lobules with peripheral palisading.|NCI|N|
C4288552|An observation of oral residue remaining after an individual swallows.|NCI|N|
C4288554|A response indicating that 1 to 1 1/2 hours were spent on an activity.|NCI|N|
C4288555|A response indicating that 1 to 4 minutes were spent on an activity.|NCI|N|
C4288557|A response indicating that one hour (60 minutes) was spent on an activity.|NCI|N|
C4288558|An oligodendroglioma carrying IDH gene family mutation and combined whole-arm losses of 1p and 19q (1p/19q codeletion).|NCI|N|
C4288582|A response indicating that an individual is or was not at all tired.|NCI|N|
C4288583|A response indicating that an individual is or was not at all short of breath.|NCI|N|
C4288584|A response indicating a usual walking pace that is normal or average, 2-2.9 mph.|NCI|N|
C4288590|Failure to thrive caused by inadequate intake due to environmental influences, stimulus deprivation- poverty, feeding techniques, or psychological reason, and without any apparent growth-inhibiting organic disorder.|NCI|N|
C4288593|A rare morphologic variant of papillary thyroid gland carcinoma characterized by the presence of abundant and cellular stroma resembling nodular fasciitis, fibromatosis, or other proliferative myofibroblastic processes. (WHO)|NCI|N|
C4288594|Nodular/lobular proliferation of normal Bartholin gland tissue and ducts.|NCI|N|
C4288595|A finding of no visible posterior motion of tongue base during swallowing.|NCI|N|
C4288596|A finding of no visible initiation of pharyngeal swallow at any location.|NCI|N|
C4288597|A finding of no superior movement of thyroid cartilage during swallowing.|NCI|N|
C4288598|A finding of no labial escape during swallowing.|NCI|N|
C4288599|A finding of no inversion of epiglottis during swallowing.|NCI|N|
C4288600|A response indicating that an individual has or had no energy at all.|NCI|N|
C4288601|A finding of no distension of pharyngoesophageal segment opening during swallowing with total obstruction of flow.|NCI|N|
C4288602|A finding of no contrast between tongue base and posterior pharyngeal wall during swallowing.|NCI|N|
C4288603|A finding of no bolus between soft palate/pharyngeal wall during swallowing.|NCI|N|
C4288604|A finding of no anterior movement of hyoid during swallowing.|NCI|N|
C4288607|A response indicating that an individual never smoked cigarettes regularly.|NCI|N|
C4288608|A response indicating that an individual is never did an activity.|NCI|N|
C4288609|Nephrotic syndrome in which there is a relapse occurring less than twice in the first six months, or less than four times in a year.|NCI|N|
C4288610|A localized pathological or traumatic structural change due to insertion and/or withdrawal of a needle.|NCI|N|
C4288611|A response indicating that something happens or happened nearly every day for two weeks.|NCI|N|
C4288618|A finding of a narrow column of contrast or air between tongue base and posterior pharyngeal wall during swallowing.|NCI|N|
C4288625|A very rare NK-cell lymphoma with pathologic and clinical features posing difficulty in its exact diagnosis and classification.|NCI|N|
C4288709|A subtype of adrenal hyperplasia, based on histopathologic features, in which there are multiple nodules.|NCI|N|
C4288714|An NIH modified Oral Mucosa Rating Scale (OMRS) score that has increased by 2 or more points.|NCI|N|
C4288715|An NIH modified Oral Mucosa Rating Scale (OMRS) score that has decreased by 2 or more points.|NCI|N|
C4288716|An NIH modified Oral Mucosa Rating Scale (OMRS) score of 0 following previous GvHD involvement.|NCI|N|
C4288717|A non-seminomatous germ cell tumor arising from the testis of a mouse, characterized by the presence of various tissues corresponding to the different germinal layers (endoderm, mesoderm, and ectoderm).|NCI|N|
C4288718|An indication that something happens or happened most or almost most of the time.|NCI|N|
C4288725|An indication that something happens or happened moderately or much of the time.|NCI|N|
C4288726|A response indicating that an individual is or was moderately tired.|NCI|N|
C4288727|A response indicating that an individual is or was moderately energetic.|NCI|N|
C4288729|A score of 2 on the Combs Prognostic Index scale.|NCI|N|
C4288730|Failure to thrive due to both organic and non-organic causes.|NCI|N|
C4288731|The width of the vena contracta of the mitral valve.|NCI|N|
C4288732|The measured area of the backflow of blood into the left atrium.|NCI|N|
C4288733|A relative measurement (ratio or percentage) of the mitral regurgitant jet area to left atrial area.|NCI|N|
C4288734|The ratio of the peak early diastolic transmitral velocity to the peak mitral annular motion velocity.|NCI|N|
C4288735|The ratio of the rate of blood flow during early diastole to the rate of blood flow during late diastole.|NCI|N|
C4288737|The cross sectional diameter a cardiovascular structure measured in the minor axis at end ventricular systole.|NCI|N|
C4288738|The cross sectional diameter a cardiovascular structure measured in the minor axis at end ventricular diastole.|NCI|N|
C4288740|A finding of minimal to no tongue motion during swallowing.|NCI|N|
C4288741|A finding of minimal to no pharyngeal clearance following swallowing.|NCI|N|
C4288742|A finding of minimal to no esophageal clearance.|NCI|N|
C4288743|A finding of minimal to no clearance of bolus after swallowing.|NCI|N|
C4288744|A finding of minimal distension or minimal duration of pharyngoesophageal segment opening during swallowing; marked obstruction of flow.|NCI|N|
C4288745|A finding of minimal chewing or mashing with majority of bolus unchewed prior to swallowing.|NCI|N|
C4288749|An aggressive variant of lung adenocarcinoma that exhibits a micropapillary architectural pattern. The prognosis is usually poor.|NCI|N|
C4288754|A carcinoma that arises from the urothelium and has spread from its original site of growth to another anatomic site.|NCI|N|
C4288755|A non-squamous non-small cell carcinoma that arises from the lung and has metastasized to another anatomic site.|NCI|N|
C4288763|Membranous nephropathy due to another medical condition.|NCI|N|
C4288772|A microscopic finding indicating the presence of mammary gland type morphological features in a tumor sample.|NCI|N|
C4288773|A rare malignant phyllodes tumor arising from the vulva.|NCI|N|
C4288774|A malignant neoplasm with perivascular epithelioid cell differentiation arising from the uterine corpus. The neoplasm is usually a large size, and charcaterized by the presence of marked nuclear atypia, pleomorphism, increased mitotic activity, necrosis, and infiltrative margins. The most common metastatic sites are lungs, lymph nodes, and bone. Patients present with a pelvic mass or abnormal bleeding.|NCI|N|
C4288775|A rare malignant mesenchymal neoplasm that arises from the cervix.|NCI|N|
C4288777|A finding of the majority of contrast within or on pharyngeal structures following swallowing.|NCI|N|
C4288778|A finding of the majority of bolus remaining after swallowing.|NCI|N|
C4288779|A major congenital anomaly is a structural or functional defect with the following three characteristics: 1) Of prenatal origin; 2) Present at the time of live birth or fetal demise, or in utero; 3) Affecting (or has the propensity to affect) the health, survival, or physical or cognitive functioning of the individual.|NCI|N|
C4288780|The cross sectional diameter of a cardiovascular structure measured along the major axis at end ventricular systole.|NCI|N|
C4288781|The cross sectional diameter of a cardiovascular structure measured along the major axis at end ventricular diastole.|NCI|N|
C4288784|A variation in the amino acid sequence of the myeloid differentiation primary response protein MyD88.|NCI|N|
C4288785|A change in the amino acid residue at position 265 in the myeloid differentiation primary response protein MyD88 where leucine has been replaced by proline.|NCI|N|
C4288786|A change in the nucleotide sequence of the MYD88 gene.|NCI|N|
C4288789|A nucleotide substitution at position 1544 of the coding sequence of the MPL gene where guanine has been mutated to thymine.|NCI|N|
C4288790|A complex substitution where the nucleotide sequence at positions 1543 and 1545 of the coding sequence of the MPL gene has changed from thymine-guanine-guanine to adenine-adenine-adenine.|NCI|N|
C4288791|A complex substitution where the nucleotide sequence at positions 1543 and 1544 of the coding sequence of the MPL gene has changed from thymine-guanine to adenine-adenine.|NCI|N|
C4288792|A change in the nucleotide sequence of the MPL gene.|NCI|N|
C4288794|A molecular genetic abnormality indicating the presence of a mutation in exon 14 of the MET gene located in the vicinity of 7q31.|NCI|N|
C4288798|Either an increase by 10% predicted absolute value of %FEV1 or an NIH lung symptom score that has decreased by 1 or more points.|NCI|N|
C4288799|Either normal %FEV1, alkaline phosphatase, and total bilirubin after previous elevation of 1 or more or an NIH lung symptom score of 0 following GvHD involvement.|NCI|N|
C4288802|An NIH lower GI score that has increased by 1 or more points, except 0 to 1.|NCI|N|
C4288803|An NIH lower GI score that has decreased by 1 or more points.|NCI|N|
C4288804|An NIH lower GI score of 0 after previous GvHD involvement.|NCI|N|
C4288806|A slow-growing serous adenocarcinoma that arises from the fallopian tube. It is characterized by the presence of low grade cytologic features and infrequent mitotic figures.|NCI|N|
C4288807|A slow-growing serous adenocarcinoma that arises from the broad ligament. It is characterized by the presence of low grade cytologic features and infrequent mitotic figures.|NCI|N|
C4288810|The unplanned closing of a stoma.|NCI|N|
C4288813|Lobular proliferations of benign-appearing small to moderate sized endocervical glands in the inner half of the cervical stroma. The glands are lined by columnar epithelial cells which contain pyloric gland-type mucin. There is minimal atypia and mitotic figures are rare. Some cases have been associated with adenocarcinoma in situ/high grade cervical glandular intraepithelial neoplasia and gastric-type adenocarcinomas.|NCI|N|
C4288815|An increase by two times the upper limit of normal for ALT, alkaline phosphatase, and total bilirubin.|NCI|N|
C4288816|Normal ALT, alkaline phosphatase, and total bilirubin after previous elevation of 1 or more following GvHD involvement.|NCI|N|
C4288824|The integral of all of the flow velocities within the left ventricular outflow tract during ventricular systole.|NCI|N|
C4288825|The measurement of the maximum rate of blood flow measured in the left ventricular outflow tract during systole.|NCI|N|
C4288846|Prosthetic valve endocarditis that occurs several months to years following valve replacement.|NCI|N|
C4288847|The assessment of the largest cross-sectional thickness of a tissue.|NCI|N|
C4288848|The largest cross sectional diameter measured at end ventricular diastole.|NCI|N|
C4288858|A variation in the amino acid sequence for the mast/stem cell growth factor receptor Kit protein.|NCI|N|
C4288859|A change in the amino acid residue at position 816 in the mast/stem cell growth factor receptor Kit protein where aspartic acid has been replaced by valine.|NCI|N|
C4288860|A nucleotide substitution at position 2447 of the coding sequence of the KIT gene where adenine has been mutated to thymine.|NCI|N|
C4288861|A molecular genetic abnormality indicating the presence of a mutation in exon 8 of the KIT gene located within 4q11-q12.|NCI|N|
C4288864|A NIH joint and fascia score that has increased by 1 or more points or a decrease in P-ROM score by 1 point for any site.|NCI|N|
C4288865|A NIH Joint and Fascia score that has decreased by 1 or more points or an increase in P-ROM score by 1 point for any site.|NCI|N|
C4288866|Both an NIH joint and fascia score of 0 and a P-ROM score of 25 after previous GvHD involvement by at least 1 measure.|NCI|N|
C4288880|A finding of interlabial escape during swallowing, but no progression to anterior lip.|NCI|N|
C4288884|An observation of an individual''s initiation of pharyngeal swallow.|NCI|N|
C4288885|A finding of pharyngeal swallow initiated with bolus head in valleculae.|NCI|N|
C4288886|A finding of pharyngeal swallow initiated with bolus head in the pyriform sinus.|NCI|N|
C4288887|A finding of pharyngeal swallow initiated with bolus head at posterior angle of ramus.|NCI|N|
C4288888|A finding of pharyngeal swallow initiated with bolus head at posterior laryngeal surface of epiglottis.|NCI|N|
C4288890|Hidradenitis that is caused by an infectious agent, usually a bacterium.|NCI|N|
C4288891|A T-acute lymphoblastic leukemia that occurs in infancy.|NCI|N|
C4288892|An acute undifferentiated leukemia that occurs in infancy.|NCI|N|
C4288893|An acute biphenotypic leukemia that occurs in infancy.|NCI|N|
C4288894|The transmission of an infectious agent from a source to a host through an intermediary such as inanimate objects (vehicles) or living organisms (vectors).|NCI|N|
C4288896|A finding indicating an increase in the numbers of epithelial cells that have been transformed into mucus-secreting cells. This does not include the normal increase in mucification seen in the estrous cycle.|NCI|N|
C4288897|A finding of incomplete pharyngeal contraction during swallowing.|NCI|N|
C4288898|A finding of incomplete laryngeal vestibular closure; narrow column air/contrast in laryngeal vestibule.|NCI|N|
C4288902|An observation of an individual''s tongue control during bolus hold.|NCI|N|
C4288903|An observation of an individual''s tongue base retraction during swallowing.|NCI|N|
C4288904|An observation of an individual''s soft palate elevation during swallowing.|NCI|N|
C4288905|An observation of an individual''s pharyngoesophageal segment opening during swallowing.|NCI|N|
C4288906|An observation of an individual''s pharyngeal stripping wave during swallowing.|NCI|N|
C4288907|An observation of an individual''s pharyngeal contraction during swallowing.|NCI|N|
C4288908|An observation of an individual''s laryngeal vestibular closing and height of swallowing.|NCI|N|
C4288909|An observation of an individual''s esophageal clearance after swallowing in an upright position.|NCI|N|
C4288910|An observation of an individual''s epiglottic movement during swallowing.|NCI|N|
C4288911|An observation of an individual''s bolus transport and lingual motion during swallowing.|NCI|N|
C4288912|An observation of an individual''s bolus preparation and/or mastication prior to swallowing.|NCI|N|
C4288913|An observation of an individual''s anterior hyoid excursion during swallowing.|NCI|N|
C4288914|A condition of compromised immune function resulting from an uncharacterized defect.|NCI|N|
C4288921|Chronic degenerative changes in the kidney characterized by thickened and inflamed glomeruli and proteinurea, the cause of which is unknown.|NCI|N|
C4288922|Iatrogenic botulism is the most recent man-made form of botulism (see this term), a rare acquired neuromuscular junction disease with descending flaccid paralysis caused by botulinum neurotoxins (BoNTs), and it may occur as an adverse event after therapeutic or cosmetic use.|ORDO|N|
C4288927|A condition of decreased or absent presence or activity of interferon gamma receptor 1. Deficiency of this protein is associated with immunodeficiency 27A and immunodeficiency 27B.|NCI|N|
C4288928|A change in the amino acid residue at position 132 in the isocitrate dehydrogenase [NADP] cytoplasmic protein where arginine has been replaced by histidine.|NCI|N|
C4288929|A complex substitution where the nucleotide sequence at positions 395 and 396 of the coding sequence of the IDH1 gene has changed from thymine-guanine to adenine-cytosine.|NCI|N|
C4288930|A nucleotide substitution at position 395 of the coding sequence of the IDH1 gene where guanine has been mutated to adenine.|NCI|N|
C4288933|A transient condition associated with urinary tract infections in infants presenting with hyponatremia and hyperkalemia, mimicking low concentrations of aldosterone.|NCI|N|
C4288934|An autosomal dominant condition presenting with hyponatremia and hyperkalemia, mimicking low concentrations of aldosterone, associated with loss-of-function mutation(s) in the NR3C2 gene, encoding the mineralocorticoid receptor.|NCI|N|
C4288935|A condition of decreased or absent presence or activity of V(D)J recombination-activating protein 1. Deficiency of this protein is associated with Omenn syndrome, severe combined immunodeficiency, b cell-negative, combined cellular and humoral immune defects with granulomas, and alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity.|NCI|N|
C4288936|A genetically heterogynous condition characterized by hyperkalemia, hyperchloremic acidosis, low or suppressed renin activity, and normal to high concentrations of aldosterone. Mutations in genes (for example WNK1 or WNK4), regulating Na-Cl cotransporters (NCC), Na-K-Cl cotransporters (NKCC2), or the renal outer medullary potassium (ROMK) channel have been identified as causative in this condition. The primary abnormality is thought to be a specific defect of the renal secretory mechanism for potassium, which limits the kaliuretic response to, but not the sodium and chloride reabsorptive effect of, mineralocorticoid.|NCI|N|
C4288955|The state when recipients of hematopoietic stem cell transplantations are not fully matched with their unrelated adult volunteer donors for HLA-A, HLA-B, HLA-C, and HLA-DRB1 and the homozygous recipient is receiving a graft from a heterozygous donor.|NCI|N|
C4288956|The transmission of a disease from one individual to another.|NCI|N|
C4288960|A rapidly growing serous adenocarcinoma that arises from the fallopian tube. It is characterized by the presence of high grade cytologic features and frequent mitotic figures.|NCI|N|
C4288973|A response indicating that an individual has stopped doing an activity.|NCI|N|
C4288979|A response indicating that an individual has not smoked since they have been diagnosed with cancer.|NCI|N|
C4288980|A response indicating that an individual has not been treated for cancer.|NCI|N|
C4288981|A response indicating that an individual has not had surgery for cancer.|NCI|N|
C4288982|A response indicating that an individual has not completed treatment for cancer.|NCI|N|
C4288983|A response indicating that an individual has not been diagnosed with cancer.|NCI|N|
C4288999|A response indicating that an individual is or has been happy most of the time.|NCI|N|
C4289018|A variation in the amino acid sequence for the histone h3 protein.|NCI|N|
C4289019|A change in the amino acid residue at position 27 in histone H3 where lysine has been replaced by methionine.|NCI|N|
C4289020|The histopathological evaluation of staining in tissue based on the H Score scoring system (McCarty KS Jr, Miller LS, Cox EB, et al. Estrogen receptor analyses: correlation of biochemical and immunohistochemical methods using monoclonal antireceptor antibodies. Arch Pathol Lab Med. 1985;109(8):716-721).|NCI|N|
C4289025|A pituitary neuroendocrine tumor that produces both growth hormone and prolactin.|NCI|N|
C4289026|The state when a recipient of a hematopoietic stem cell transplantation is not fully matched with their unrelated adult volunteer donor for HLA-A, HLA-B, HLA-C, and HLA-DRB1 and the heterozygous recipient is receiving a graft from a homozygous donor.|NCI|N|
C4289027|A score of 1 on the Combs Prognostic Index scale.|NCI|N|
C4289031|A clinician overall severity score that has increased by 2 or more points on a 0-10 scale.|NCI|N|
C4289032|A clinician overall severity score that has decreased by 2 or more points on a 0-10 scale.|NCI|N|
C4289033|A clinician overall severity score 0 following GvHD response.|NCI|N|
C4289034|A glioblastoma characterized by the presence of well-demarcated nodules which contain primitive cells exhibiting neuronal differentiation.|NCI|N|
C4289035|A poorly differentiated squamous cell carcinoma that arises from the gingiva. It is characterized by the presence of malignant pleomorphic spindle cells.|NCI|N|
C4289043|Gemistocytic astrocytoma carrying IDH mutations.|NCI|N|
C4289044|An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the gastroesophageal junction. According to the size of the malignant cells, the prominence of the nucleoli, and the amount of cytoplasm, it is classified either as small or large cell neuroendocrine carcinoma.|NCI|N|
C4289045|An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the gastroesophageal junction. It is characterized by the presence of malignant large cells.|NCI|N|
C4289253|A response indicating that an individual is or was full of energy.|NCI|N|
C4289265|A response indicating that 41 to 60 hours were spent on an activity.|NCI|N|
C4289270|A response indicating that something happens or happened between five and seven days.|NCI|N|
C4289271|A response indicating that 5 to 19 minutes were spent on an activity.|NCI|N|
C4289272|A response that indicates climbing five to nine flights of stairs daily.|NCI|N|
C4289275|A response that indicates climbing 15 or more flights of stairs daily.|NCI|N|
C4289294|Metaplastic mucinous changes in the fallopian tube epithelium. It may be seen in association with gynecological, appendiceal, or colonic mucinous tumors, or chronic inflammation.|NCI|N|
C4289295|An exceedingly rare lymphoma that arises from the fallopian tube.|NCI|N|
C4289307|A variation in the amino acid sequence for the receptor-type tyrosine-protein kinase FLT3 protein.|NCI|N|
C4289308|A change in the amino acid residue at position 835 in the receptor-type tyrosine-protein kinase FLT3 protein where asparagine has been replaced by another amino acid.|NCI|N|
C4289309|A change in the nucleotide sequence of the FLT3 gene.|NCI|N|
C4289310|Ovarian cancer with hepatic and/or splenic parenchymal metastasis, metastasis to extra-abdominal organs (including inguinal lymph nodes and lymph nodes outside of the abdominal cavity). (FIGO, 2014)|NCI|N|
C4289311|Ovarian cancer with pleural effusion with positive cytology. (FIGO, 2014)|NCI|N|
C4289313|Ovarian cancer with microscopic, extrapelvic (above the brim) peritoneal involvement +/- positive retroperitoneal lymph nodes. (FIGO, 2014)|NCI|N|
C4289316|Ovarian cancer with positive retroperitoneal lymph nodes only. Metastasis greater than 10 mm. (FIGO, 2014)|NCI|N|
C4289318|Ovarian cancer with positive retroperitoneal lymph nodes only. Metastasis equal or less than 10 mm. (FIGO, 2014)|NCI|N|
C4289319|Ovarian cancer with positive retroperitoneal lymph nodes only. (FIGO, 2014)|NCI|N|
C4289321|Stage IC ovarian cancer with malignant cells in the ascites or peritoneal washings. (FIGO, 2014)|NCI|N|
C4289323|Stage IC ovarian cancer with capsule rupture before surgery or tumor on ovarian surface. (FIGO, 2014)|NCI|N|
C4289325|Stage IC ovarian cancer with surgical spill. (FIGO, 2014)|NCI|N|
C4289326|A change in the amino acid residue at position 373 in the fibroblast growth factor receptor 3 protein where tyrosine has been replaced by cysteine.|NCI|N|
C4289327|A change in the amino acid residue at position 371 in the fibroblast growth factor receptor 3 protein where serine has been replaced by cysteine.|NCI|N|
C4289328|A change in the amino acid residue at position 249 in the fibroblast growth factor receptor 3 protein where serine has been replaced by cysteine.|NCI|N|
C4289329|A change in the amino acid residue at position 284 in the fibroblast growth factor receptor 3 protein where arginine has been replaced by cysteine.|NCI|N|
C4289330|A change in the amino acid residue at position 380 in the fibroblast growth factor receptor 3 protein where glycine has been replaced by arginine.|NCI|N|
C4289331|A change in the amino acid residue at position 370 in the fibroblast growth factor receptor 3 protein where glycine has been replaced by cysteine.|NCI|N|
C4289332|A nucleotide substitution at position 746 of the coding sequence of the FGFR3 gene where cytosine has been mutated to guanine.|NCI|N|
C4289333|A nucleotide substitution at position 742 of the coding sequence of the FGFR3 gene where cytosine has been mutated to thymine.|NCI|N|
C4289334|A nucleotide substitution at position 1138 of the coding sequence of the FGFR3 gene where guanine has been mutated to adenine.|NCI|N|
C4289335|A nucleotide substitution at position 1118 of the coding sequence of the FGFR3 gene where adenine has been mutated to guanine.|NCI|N|
C4289336|A nucleotide substitution at position 1111 of the coding sequence of the FGFR3 gene where adenine has been mutated to thymine.|NCI|N|
C4289337|A nucleotide substitution at position 1108 of the coding sequence of the FGFR3 gene where guanine has been mutated to thymine.|NCI|N|
C4289482|A change in the nucleotide sequence of the F2 gene.|NCI|N|
C4289483|An NIH eye score that has increased by 1 or more points, except 0 to 1.|NCI|N|
C4289484|An NIH eye score that has decreased by 1 or more points.|NCI|N|
C4289485|An NIH eye score of 0 after previous GvHD involvement.|NCI|N|
C4289486|A response indicating that an individual is or was extremely tired.|NCI|N|
C4289487|A response indicating that an individual is or was extremely short of breath.|NCI|N|
C4289489|A malignant neoplasm arising from foci of atypical fibroblast-like cells in the interstitium of the outer stripe of the outer medulla of the kidney. (INHAND)|NCI|N|
C4289490|A malignant neoplasm arising from neuroendocrine cells with evidence of invasion.|NCI|N|
C4289491|A benign neoplasm arising from neuroendocrine cells.|NCI|N|
C4289492|A benign neoplasm composed of Sertoli cells arranged in tubules intermixed with pleomorphic Leydig cells.|NCI|N|
C4289493|A benign neoplasm arising from pluripotent mesodermal cells of the Mullerian ducts. (INHAND)|NCI|N|
C4289494|A benign epithelial neoplasm arising from the endometrium.|NCI|N|
C4289555|A score of 0 on the Combs Prognostic Index scale.|NCI|N|
C4289565|An NIH esophagus score that has increased by 1 or more points, except 0 to 1.|NCI|N|
C4289566|An NIH esophagus score that has decreased by 1 or more points.|NCI|N|
C4289567|An NIH esophagus score of 0 after previous GvHD involvement.|NCI|N|
C4289568|A finding of esophageal retention with retrograde flow through the pharyngoesophageal segment.|NCI|N|
C4289569|A finding of esophageal retention with retrograde flow below the pharyngoesophageal segment.|NCI|N|
C4289570|A finding of esophageal retention following swallowing.|NCI|N|
C4289571|An assessment of an individual''s esophageal impairment during swallowing.|NCI|N|
C4289572|A finding of escape to nostril with or without emission during swallowing.|NCI|N|
C4289573|A finding of escape to nasopharynx during swallowing.|NCI|N|
C4289574|A finding of escape to nasal cavity during swallowing.|NCI|N|
C4289575|A finding of escape to lateral buccal cavity/floor of mouth during swallowing.|NCI|N|
C4289576|A finding of escape progressing to mid-chin during swallowing.|NCI|N|
C4289577|A finding of escape from interlabial space or lateral juncture during swallowing, but no extension.|NCI|N|
C4289578|A finding of escape beyond mid-chin during swallowing.|NCI|N|
C4289580|An IDH-wildtype glioblastoma characterized by the presence of large epithelioid cells with abundant eosinophilic cytoplasm, vesicular chromatin, and prominent nucleoli.|NCI|N|
C4289581|A rare ependymal tumor characterized by the presence of a <i>RELA</i> fusion gene. This supratentorial grade II or III ependymoma most often occurs in children and young adults. Histopathological features are variable, but a distinctive vascular pattern of branching capillaries or clear-cell change are common. Patients may present with focal neurological deficits, seizures, or features of raised intracranial pressure. Prognosis is worse than in other supratentorial ependymomas.|ORDO|N|
C4289585|A category of rare neoplasms that arise from the vagina. It includes low grade endometrioid stromal sarcoma and undifferentiated sarcoma.|NCI|N|
C4289586|A category of rare neoplasms that arise from the cervix. It includes low grade endometrioid stromal sarcoma and undifferentiated endocervical sarcoma.|NCI|N|
C4289587|Dense diffuse and superficial infiltration of the endometrium by lymphoid cells. It is typically seen in association with chronic endometritis.|NCI|N|
C4289588|A high grade neuroendocrine carcinoma that arises from the endometrium. It is composed of large polygonal cells arranged in well-demarcated nests, trabeculae or cords with peripheral palisading.|NCI|N|
C4289589|A carcinoma that arises from the endometrium and is characterized by the presence of an undifferentiated carcinomatous component and a second component of either FIGO grade 1 or 2 endometrioid carcinoma.|NCI|N|
C4289590|An infection caused by an infectious agent that is present on or in the host prior to the start of the infection.|NCI|N|
C4289593|A response indicating that 11 to 20 hours were spent on an activity.|NCI|N|
C4289594|A response indicating that 11 or more hours were spent on an activity.|NCI|N|
C4289597|Replacement of the endocervical epithelium with benign-appearing prostatic glands.|NCI|N|
C4289599|A response indicating a usual walking pace that is easy or casual, less than 2 mph.|NCI|N|
C4289600|Prosthetic valve endocarditis that occurs days to weeks after surgery.|NCI|N|
C4289601|A cytogenetic abnormality that refers to a translocation involving the EWSR1 gene.|NCI|N|
C4289650|A change in the nucleotide sequence of the EPCAM gene.|NCI|N|
C4289654|A molecular genetic abnormality indicating the presence of a mutation in exon 21 of the EGFR gene.|NCI|N|
C4289655|A molecular genetic abnormality indicating the presence of a mutation in exon 20 of the EGFR gene.|NCI|N|
C4289656|A molecular genetic abnormality indicating the presence of a mutation in exon 19 of the EGFR gene.|NCI|N|
C4289657|In-frame deletions occurring within the exon 19-encoded part of the epidermal growth factor receptor (EGFR) kinase domain. These mutations are commonly seen in non-small cell lung cancer and are associated with increased sensitivity to EGFR tyrosine kinase inhibitors.|NCI|N|
C4289658|A molecular genetic abnormality indicating the presence of a mutation in exon 18 of the EGFR gene.|NCI|N|
C4289671|A response indicating that an individual doesn''t know or is not sure whether they smoked a cigarette.|NCI|N|
C4289679|Any mutation of the TP53 gene that results in a nonconservative mutation within the key DNA-binding domain (L2-L3 region) of the p53 protein, or a stop codon in any region.|NCI|N|
C4289681|A finding of disorganized chewing or mashing with solid pieces of bolus unchewed prior to swallowing.|NCI|N|
C4289682|The transmission of an infectious agent from a source (e.g., person, animal, or surface) to a host without an intermediary.|NCI|N|
C4289684|A morphologic finding indicating the presence of dilated cystic spaces in the stroma of a neoplasm.|NCI|N|
C4289687|A finding of diffuse residue following swallowing.|NCI|N|
C4289688|A diffuse midline glioma characterized by the presence of histone H3 K27M mutation.|NCI|N|
C4289689|A benign band-like proliferation of tightly-packed, small to medium sized endocervical glands below the surface of the endocervical canal.|NCI|N|
C4289690|A glioma that has diffusely infiltrated the surrounding central nervous system tissues.|NCI|N|
C4289691|Diffuse astrocytoma lacking mutations in IDH1 or IDH2 genes.|NCI|N|
C4289692|IDH-mutant astrocytoma characterized by the presence of well-differentiated fibrillary glial cells diffusely infiltrating the central nervous system.|NCI|N|
C4289697|A response indicating that an individual didn''t smoke a cigarette at all.|NCI|N|
C4289700|A change in the nucleotide sequence of the BRCA1 gene that is associated with increased risk of disease.|NCI|N|
C4289701|A finding of delayed initiation of tongue motion during swallowing.|NCI|N|
C4289702|A morphologic finding indicating the presence of a high grade undifferentiated malignant cellular infiltrate and a second component of a low grade malignant cellular infiltrate in a tissue sample.|NCI|N|
C4289705|A nucleotide substitution at position 957 of the coding sequence of the DRD2 gene where cytosine has been mutated to thymine.|NCI|N|
C4289706|A nucleotide insertion of a cytosine between positions -486 and -485 in the 5'' promoter region of the DRD2 gene.|NCI|N|
C4289707|A change in the nucleotide sequence of the DRD2 gene.|NCI|N|
C4289708|A change in the nucleotide sequence of the DOCK8 gene.|NCI|N|
C4289712|The qualitative measurement of the severity of a thickening cardiac valve cusp.|NCI|N|
C4289714|The qualitative measurement of the severity of tethering of a cardiac valve cusp.|NCI|N|
C4289716|The qualitative measurement of the severity of restricted motion of a cardiac valve cusp.|NCI|N|
C4289718|The time point during the cardiac cycle when the prolapse of of one or more cusps occurs.|NCI|N|
C4289719|The qualitative measurement of the severity of a prolapsing cardiac valve cusp.|NCI|N|
C4289721|The time point during the cardiac cycle when the flail of one or more cusps occurs.|NCI|N|
C4289722|The qualitative measurement of the severity of a flailing cardiac valve cusp.|NCI|N|
C4289724|The qualitative measurement of the severity of doming of a cardiac cusp.|NCI|N|
C4289729|The cross-sectional thickness of a tissue measured at end ventricular systole.|NCI|N|
C4289730|The cross-sectional thickness of a tissue measured at end ventricular diastole.|NCI|N|
C4289731|The cross sectional diameter measured at mid ventricular systole.|NCI|N|
C4289732|The cross sectional diameter measured at end ventricular systole.|NCI|N|
C4289733|The cross sectional diameter measured at end ventricular diastole.|NCI|N|
C4289734|A thyroid gland carcinoma characterized by the presence of cribriform, trabecular, follicular, papillary, and solid growth patterns and squamoid morulae formation. It may occur with familial adenomatous polyposis or sporadically.|NCI|N|
C4289744|The transmission of an infectious agent via touch.|NCI|N|
C4289747|A lesion that demonstrates both cystic and solid components; the solid components can range from thin walls (septae) to a solid tissue mass.|NCI|N|
C4289748|A finding of complete superior movement of thyroid cartilage with complete approximation of arytenoids to epiglottic petiole during swallowing.|NCI|N|
C4289750|A finding of complete pharyngeal clearance following swallowing.|NCI|N|
C4289753|A finding of complete oral clearance after swallowing.|NCI|N|
C4289754|A finding of complete laryngeal vestibular closure; no air/contrast in laryngeal vestibule.|NCI|N|
C4289755|A finding of complete inversion of epiglottis during swallowing.|NCI|N|
C4289757|A finding of complete distension and complete duration of pharyngoesophageal segment opening during swallowing; no obstruction of flow.|NCI|N|
C4289758|A finding of complete anterior movement of hyoid during swallowing.|NCI|N|
C4289762|A score of 0 on a comparative scale that ranges from 3+: Very much better to -3: Very much worse.|NCI|N|
C4289765|A score of -1 on a comparative scale that ranges from 3+: Very much better to -3: Very much worse.|NCI|N|
C4289767|The presence of microorganisms (not contamination) on a body surface, including the skin and mucosal surfaces (e.g., respiratory, gastrointestinal, and urogenital tracts). Colonization implies the lack of signs or symptoms of infection but often precedes infection.|NCI|N|
C4289768|An adenoma that arises from the colon. It is characterized by the presence of severe epithelial dysplasia.|NCI|N|
C4289769|A finding of collection of residue within or on pharyngeal structures following swallowing.|NCI|N|
C4289770|A finding of cohesive bolus between tongue to palatal seal during swallowing.|NCI|N|
C4289771|A measure of drug sensitivity and resistance predictions for bladder cancers based on the COXEN gene expression profile method.|NCI|N|
C4289791|Chronic eosinophilic leukemia characterized by the rearrangement of the PDGFRA gene, most often resulting in the formation of FIP1L1-PDGFRA fusion transcripts.|NCI|N|
C4289792|An on-going Epstein-Barr virus (EBV) infection characterized by repeated infectious mononucleosis-like symptoms, a very high titer of anti-EBV antibodies, and high levels of Epstein-Barr virus nucleic acids. Patients with CAEBV often develop progressive cellular and humoral immunodeficiency with pancytopenia and hypogammaglobulinemia.|NCI|N|
C4289798|An infectious disorder that occurs in childhood.|NCI|N|
C4289806|An ectopic pregnancy implanted in a previous cesarean (hysterotomy) scar, surrounded by myometrium and connective tissue.|NCI|N|
C4289807|A yolk sac tumor that arises from the cervix. Patients present with abnormal vaginal bleeding and a polypoid, friable mass, protruding into the vagina.|NCI|N|
C4289808|A cervical adenocarcinoma characterized by the presence of a prominent villoglandular pattern.|NCI|N|
C4289809|A rare highly malignant soft tissue sarcoma located in the uterine cervix and arising from primitive mesenchymal cells displaying skeletal muscle differentiation. It most often presents with abnormal vaginal discharge or dysfunctional uterine bleeding, abdominal pain and/or a cervical mass protruding into the vagina. Association with DICER1 syndrome has been reported.|SNOMEDCT_US|N|
C4289810|A neuroendocrine neoplasm that arises from the cervix. This category includes neuroendocrine tumor grade 1, neuroendocrine tumor grade 2, and neuroendocrine carcinoma (small cell and large cell neuroendocrine carcinoma).|NCI|N|
C4289812|A benign endocervical gland proliferation characterized by the presence of closely packed glands composed of columnar to cuboidal cells with subnuclear mucin vacuoles. It is associated with progestins or pregnancy.|NCI|N|
C4289813|The presence of embryonic remnants of mesonephric ducts in the cervix and their benign hyperplastic proliferations.|NCI|N|
C4289814|A rare malignant neoplasm with nerve sheath differentiation arising from the cervix.|NCI|N|
C4289815|A well-differentiated, intermediate grade neuroendocrine neoplasm arising from the cervix.|NCI|N|
C4289816|A well-differentiated, low grade neuroendocrine neoplasm that arises from the cervix.|NCI|N|
C4289817|A rare malignant mesenchymal tumour of smooth muscle origin, macroscopically appearing as a large, poorly circumscribed mass, often protruding from the cervical canal or expanding it circumferentially. The most common presenting symptoms are vaginal discharge or bleeding, pain in the lower abdomen and a bulky cervical mass. There is a reported tendency to metastasise haematogenously, especially to the lungs, peritoneum, bones and the liver.|SNOMEDCT_US|N|
C4289818|An uncommon benign smooth muscle neoplasm that arises from the cervix.|NCI|N|
C4289819|A benign lesion characterized by the presence of endocervical-type glands in the outer half of the cervical wall.|NCI|N|
C4289820|A highly aggressive malignant vascular neoplasm that arises from the cervix and shows endothelial cell differentiation.|NCI|N|
C4289821|A carcinoma that arises from the cervix and is characterized by the presence of a cervical adenocarcinoma variant and a neuroendocrine carcinoma component.|NCI|N|
C4289828|A finding of low concentrations of testosterone in a subject''s serum that results from the use of surgical or chemical castration procedures.|NCI|N|
C4289833|The anatomic trajectory of the retrograde blood flow from a cardiac valve.|NCI|N|
C4289836|A malignant neoplasm that affects dogs, arising from transitional epithelium.|NCI|N|
C4289837|A malignant mesenchymal neoplasm that affects dogs. It arises from muscle, fat, fibrous tissue, bone, cartilage, and blood vessels.|NCI|N|
C4289838|A malignant mesenchymal neoplasm arising from skeletal muscle that occurs in dogs.|NCI|N|
C4289839|A malignant epithelial neoplasm arising from the prostate gland of a dog.|NCI|N|
C4289840|A tumor composed of mast cells that occurs in dogs.|NCI|N|
C4289841|A malignant lymphoproliferative disorder that affects dogs. It is characterized by the clonal proliferation of B- or T-lymphocytes in the lymph nodes, bone marrow, and/or extranodal sites.|NCI|N|
C4289842|A carcinoma that arises from the lung in dogs and is characterized by the presence of malignant glandular epithelial cells.|NCI|N|
C4289843|An acute or chronic malignant (clonal) hematologic disorder, arising from hematopoietic stem cells in dogs. It is characterized by the presence of primitive or atypical myeloid or lymphoid cells in the bone marrow and the blood.|NCI|N|
C4289844|A malignant neoplasm that affects dogs, characterized by the presence of malignant cells with morphologic and immunophenotypic characteristics similar to those seen in mature histiocytes.|NCI|N|
C4289845|A malignant tumor arising from hepatocytes that occurs in dogs.|NCI|N|
C4289846|A brain or spinal cord tumor arising from glial cells that occurs in dogs.|NCI|N|
C4289847|GM1-gangliosidosis that occurs in dogs, caused by mutation(s) in the GLB1 gene, encoding beta-galactosidase.|NCI|N|
C4289851|A change in the nucleotide sequence of the CTRC gene.|NCI|N|
C4289853|A score of 9 on the COXEN Sensitivity Scale.|NCI|N|
C4289854|A score of 8 on the COXEN Sensitivity Scale.|NCI|N|
C4289855|A score of 7 on the COXEN Sensitivity Scale.|NCI|N|
C4289856|A score of 6 on the COXEN Sensitivity Scale.|NCI|N|
C4289857|A score of 5 on the COXEN Sensitivity Scale.|NCI|N|
C4289858|A score of 40 on the COXEN Sensitivity Scale.|NCI|N|
C4289859|A score of 3 on the COXEN Sensitivity Scale.|NCI|N|
C4289860|A score of 39 on the COXEN Sensitivity Scale.|NCI|N|
C4289861|A score of 38 on the COXEN Sensitivity Scale.|NCI|N|
C4289862|A score of 37 on the COXEN Sensitivity Scale.|NCI|N|
C4289863|A score of 36 on the COXEN Sensitivity Scale.|NCI|N|
C4289864|A score of 35 on the COXEN Sensitivity Scale.|NCI|N|
C4289865|A score of 34 on the COXEN Sensitivity Scale.|NCI|N|
C4289866|A score of 33 on the COXEN Sensitivity Scale.|NCI|N|
C4289867|A score of 32 on the COXEN Sensitivity Scale.|NCI|N|
C4289868|A score of 31 on the COXEN Sensitivity Scale.|NCI|N|
C4289869|A score of 2 on the COXEN Sensitivity Scale.|NCI|N|
C4289870|A score of 29 on the COXEN Sensitivity Scale.|NCI|N|
C4289871|A score of 28 on the COXEN Sensitivity Scale.|NCI|N|
C4289872|A score of 27 on the COXEN Sensitivity Scale.|NCI|N|
C4289873|A score of 26 on the COXEN Sensitivity Scale.|NCI|N|
C4289874|A score of 25 on the COXEN Sensitivity Scale.|NCI|N|
C4289875|A score of 24 on the COXEN Sensitivity Scale.|NCI|N|
C4289876|A score of 23 on the COXEN Sensitivity Scale.|NCI|N|
C4289877|A score of 22 on the COXEN Sensitivity Scale.|NCI|N|
C4289878|A score of 21 on the COXEN Sensitivity Scale.|NCI|N|
C4289879|A score of 20 on the COXEN Sensitivity Scale.|NCI|N|
C4289880|A score of 1 on the COXEN Sensitivity Scale.|NCI|N|
C4289881|A score of 19 on the COXEN Sensitivity Scale.|NCI|N|
C4289882|A score of 18 on the COXEN Sensitivity Scale.|NCI|N|
C4289883|A score of 17 on the COXEN Sensitivity Scale.|NCI|N|
C4289884|A score of 16 on the COXEN Sensitivity Scale.|NCI|N|
C4289885|A score of 14 on the COXEN Sensitivity Scale.|NCI|N|
C4289886|A score of 13 on the COXEN Sensitivity Scale.|NCI|N|
C4289887|A score of 12 on the COXEN Sensitivity Scale.|NCI|N|
C4289888|A score of 11 on the COXEN Sensitivity Scale.|NCI|N|
C4289889|A score of 10 on the COXEN Sensitivity Scale.|NCI|N|
C4289890|An epigenetic modification involving methylation of CpG islands in the promoter region of the CHFR gene.|NCI|N|
C4289893|A change in the nucleotide sequence of the CDKN2A gene.|NCI|N|
C4289899|A change in the nucleotide sequence of the CALR gene.|NCI|N|
C4289902|Expression of a fusion protein that results from the fusion of RELA and ZFTA genes. It is present in the majority of supratentorial ependymomas in children.|NCI|N|
C4289905|A non-invasive, precancerous lesion in the bronchial epithelium. Depending on the morphologic features it is classified as columnar cell dysplasia, basal cell dysplasia, squamous dysplasia, or bronchial epithelial dysplasia with transitional differentiation.|NCI|N|
C4289907|A rare serous cystadenoma arising from the broad ligament.|NCI|N|
C4289908|A rare serous cystadenofibroma arising from the broad ligament.|NCI|N|
C4289909|A rare serous adenocarcinoma that arises from the broad ligament.|NCI|N|
C4289910|A response indicating a usual walking pace that is brisk, 3-3.9 mph.|NCI|N|
C4289911|A finding of brisk tongue motion during swallowing.|NCI|N|
C4289914|Instances where blood pressure is outside of established parameters.|NCI|N|
C4289920|A finding of bilateral bulging on pharyngeal contraction during swallowing.|NCI|N|
C4289922|The state when a recipient of a hematopoietic stem cell transplantation is not fully matched with their unrelated adult volunteer donor for HLA-A, HLA-B, HLA-C, and HLA-DRB1 and both are heterozygous for different alleles at one locus.|NCI|N|
C4289927|A benign neoplasm with perivascular epithelioid cell differentiation arising from the uterine corpus. It is characterized by the absence of pleomorphism and scarcity or absence of mitotic figures. It usually affects perimenopausal women. Patients present with a pelvic mass or abnormal bleeding.|NCI|N|
C4289928|A rare benign mesenchymal neoplasm that arises from the cervix.|NCI|N|
C4289944|A change in the nucleotide sequence of the BAP1 gene.|NCI|N|
C4289946|A precursor B acute lymphoblastic leukemia (B-ALL) which does not have the cytogenetic abnormality t(9;22)(q34;q11.2). Most cases of ALL do not have this translocation.|NCI|N|
C4289955|A precancerous lesion characterized by the presence of atypical glandular epithelial features in foci of endometriosis. Atypical endometriosis has been observed in contiguity with carcinomas.|NCI|N|
C4289962|The 2-dimensional surface enclosed within a boundary and measured at end ventricular systole.|NCI|N|
C4289963|The 2-dimensional surface enclosed within a boundary and measured at end ventricular diastole.|NCI|N|
C4289966|The width of the vena contracta of the aortic valve.|NCI|N|
C4289967|The area of the vena contracta of the aortic valve.|NCI|N|
C4289968|The measured width of the backflow of blood into the left ventricular outflow tract.|NCI|N|
C4289969|A relative measurement (ratio or percentage) of the aortic regurgitant jet width to left ventricular outflow tract diameter.|NCI|N|
C4289976|The maximum rate of the annular motion during late diastole (active ventricular filling).|NCI|N|
C4289979|An anaplastic oligodendroglioma carrying IDH gene family mutation and combined whole-arm losses of 1p and 19q (1p/19q codeletion).|NCI|N|
C4289980|Anaplastic astrocytoma lacking mutations in IDH1 or IDH2 genes.|NCI|N|
C4289981|IDH-mutant astrocytoma characterized by the presence of increased mitotic activity and anaplastic features.|NCI|N|
C4289983|A score developed by Allred et al. (1998) for the proportion of tumor cells that are positive for a given biomarker. The proportion score is assigned based on the biomarker positivity measurement.|NCI|N|
C4289984|A score developed by Allred et al. (1998) for the average staining intensity for all stained protein-positive cells.|NCI|N|
C4289986|An autosomal recessive condition due to mutation(s) in the CYP11B2 gene that results in decreased activity of mitochondrial cytochrome P450 11B2 with reduced aldosterone synthesis and salt wasting.|NCI|N|
C4289987|Aldosterone synthase deficiency characterized by decreased conversion of 18-hydroxycorticosterone to aldosterone.|NCI|N|
C4289988|Aldosterone synthase deficiency characterized by decreased conversion of corticosterone to 18-hydroxycorticosterone.|NCI|N|
C4289991|A very rare form of botulism, a rare acquired neuromuscular junction disease with descending flaccid paralysis caused by botulinum neurotoxins (BoNTs), and is due to intestinal colonization by <i>Clostridium botulinum</i> leading to toxin-mediated infection with toxemia.|ORDO|N|
C4289994|A disorder characterized by abnormal inflammation of various tissues, particularly the blood vessels, with intermittent. fevers, areas of net-like, mottled skin discoloration (livedo racemosa), hepatosplenomegaly, and recurrent strokes.|NCI|N|
C4289999|Acute myeloid leukemia characterized by the presence of a FLT3-internal tandem duplication (ITD) mutation. Patients with this mutation usually present with more aggressive disease and have higher rates of relapse after remission.|NCI|N|
C4290000|An acute onset of focal limb weakness that is associated mainly with gray matter abnormalities or CSF pleocytosis, but which is without an apparent cause.|NCI|N|
C4290002|A mutation in a RAS family gene (HRAS, KRAS or NRAS) that causes the encoded GTPase to be resistant to GTP hydrolysis and results in constitutive activation of its activity and downstream pathways.|NCI|N|
C4290003|A change in the nucleotide sequence of any one of the genes encoding proteins in the phosphatidylinositol 3-kinase (PI3K) family that results in constitutive PI3K activity and aberrant activation of PI3K-dependent signaling pathways.|NCI|N|
C4290005|A finding of one kidney after the loss of the second, whether due to injury, disease or surgery.|NCI|N|
C4290008|Inflammatory myofibroblastic tumor that arises from the abdominal cavity.|NCI|N|
C4290026|A response indicating that an individual is or was a little tired.|NCI|N|
C4290027|A response indicating that an individual is or was a little short of breath.|NCI|N|
C4290028|A response indicating that an individual has or had a little energy.|NCI|N|
C4290029|A subjective response indicating that something is or was a fair amount.|NCI|N|
C4290033|Ovotesticular differences of sex development in individuals with 46,XY/46,XX mosaic karyotype.|NCI|N|
C4290064|A cancer involving a cartilage tissue.|MONDO|N|
C4293668|Deterioration of enteric neurons with impairment of enteric neuronal structure. Typical neuropathological findings include qualitative (e.g., neuronal swelling, intranuclear inclusions, axonal degeneration) and quantitative (e.g., reduction in the number of neurons) abnormalities of the enteric neurons.|HPO|N|
C4293671|An abnormality of the enteric nervous system, which comprises two types of ganglia, the myenteric (Auerbach's) and submucosal (Meissner's) plexuses. The enteric nervous system functions to control gut movement, fluid exchange between the gut and its lumen, and local blood flow.|HPO|N|
C4293672|Folds of membranous tissue (peritoneum, mesothelium) attached to the wall of the abdomen and enclosing viscera. Examples include the mesentery for the small intestine; the transverse mesocolon, which attaches the transverse portion of the colon to the back wall of the abdomen; and the mesosigmoid, which enfolds the sigmoid portion of the colon. Cells of the same embryologic origin also surround the other organs of the body such as the lungs (pleura) or the heart (pericardium).|HPO|N|
C4293674|Marked rugae formation of the skin of the labia majora.|HPO|N|
C4293675|Supernumerary clitoris.|HPO|N|
C4293676|The presence of autoantibodies (immunoglobulins) in the serum that react against a 60-kd peptide contained in the liver cytosolic fraction.|HPO|N|
C4293677|The presence of autoantibodies (immunoglobulins) in the serum that react against P450 2D6, a cytochrome P450 mono-oxygenase. Anti-LKM-1 antibodies are considered to be a diagnostic marker of autoimmune hepatitis type 2 (AIH2).|HPO|N|
C4293678|A type of primitive reflex that is elicited by repetitive tapping on the forehead. Normal subjects usually blink in response to the first several taps, but if blinking persists, the response is abnormal and considered to be a sign of frontal release. Persistent blinking is also known as Myerson's sign.|HPO|N|
C4293679|Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching over the skin of the breast.|HPO|N|
C4293680|Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching over the skin of the hand.|HPO|N|
C4293681|Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching over the skin of the abdomen.|HPO|N|
C4293682|A deviation from the normal amount of time required for food to pass through the intestines.|HPO|N|
C4293683|No fall in mean pulmonary arterial pressure (mPAP) falls by at least 10 mmHg to an absolute value less than 40 mmHg without a degradation in cardiac output (CO) in response to a short-acting vasoactive agent such as adenosine, epoprostenol, or inhaled nitric oxide.|HPO|N|
C4293684|Pulmonary vasodilator testing is performed during right-heart catheterization and involves a short-acting vasoactive agent such as adenosine, epoprostenol, or inhaled nitric oxide. The current definition of a normal (positive) response is a drop in mean pulmonary artery pressure of at least 10 mm Hg (or 20 percent) to below 40 mm Hg.|HPO|N|
C4293685|Areas of brighter than expected signal on magnetic resonance imaging emanating from locations distant from the ventricular system.|HPO|N|
C4293686|Areas of brighter than expected signal on magnetic resonance imaging emanating from the cerebral white matter that surrounds the cerebral ventricles.|HPO|N|
C4293687|Substantially shortened length of the small intestine as a result of a developmental defect.|HPO|N|
C4293688|The presence of autoantibodies (immunoglobulins) in the serum that react against C3 convertase (C3bBb).|HPO|N|
C4293689|Anomalous form of the proerythroblast, i.e., the immature, nucleated erythrocyte occupying the stage of erythropoeisis that follows formation of erythroid progenitor cells. This cell is CD71-positive, has both a nucleus and a nucleolus, and lacks hematopoeitic lineage markers.|HPO|N|
C4293690|Abnormal form of the progenitor cells committed to the erythroid lineage.|HPO|N|
C4293691|A structural anomaly of the digestive system.|HPO|N|
C4293692|A functional anomaly of the digestive system.|HPO|N|
C4293693|A structural anomaly of nerves of the enteric nervous system.|HPO|N|
C4293694|Rectovestibular fistula with a normal anus is known as H-type fistula or double termination of the alimentary tract.|HPO|N|
C4293695|A congenital malformation characterized by an abnormal connection (fistula) between the rectum and the vulval vestibule, at the lower aspect of the vaginal opening.|HPO|N|
C4293696|An increased concentration of prostate specific antigen (PSA) in the circulation.|HPO|N|
C4293697|A functional anomaly of the tiny blood vessels that connect arterioles with venules and whose walls act as semipermeable membranes that mediate the diffusion of fluids and gases between the blood circulation and body tissues.|HPO|N|
C4293698|A structural anomaly of the tiny blood vessels that connect arterioles with venules and whose walls act as semipermeable membranes that mediate the diffusion of fluids and gases between the blood circulation and body tissues.|HPO|N|
C4293700|Small, hard cyst-like nodules, freely moveable in the subcutis over the bony prominences of the legs and arms, which have an outer calcified layer with a translucent core on x-ray.|HPO|N|
C4293701|Diffusely widened perivascular spaces in the basal ganglia, affecting especially the corpus striatum. Status cribrosum is usually symmetrical, with the perivascular spaces showing CSF signal and without diffusion restriction. The word cribriform means sievelike, with multiple perforations.|HPO|N|
C4293702|Partial or complete loss of foveal tissue that was once present.|HPO|N|
C4293703|The upper incisors deviate from the normal angle of being roughly parallel to the surface of the face and instead slant outwards.|HPO|N|
C4293704|Downward movement of the trachea during inspiration due to downward traction on the tracheobronchial tree.|HPO|N|
C4293705|An abnormal anatomic position of the fovea, the small, central pit composed of closely packed cones that is located in the macula of the retina.|HPO|N|
C4293706|A structural anomaly of the capillary blood vessels in the renal glomerulus.|HPO|N|
C4293707|Widening of the wall of capillary blood vessels in the glomerulus. This feature may be produced by deposits and other changes affecting either subepithelial and subendothelial regions or the glomerular basement membrane itself.|HPO|N|
C4293708|Repeated episodes of headache with rapid onset, reaching a peak within minutes and of short duration (less than one hour) with pain that is throbbing, pulsating, or bursting in quality.|HPO|N|
C4296616|Deleterious experiences in first 18 years of life.|MSH|N|
C4296880|An imputed date that includes the month of observation.|NCI|N|
C4296896|A rare genetic intestinal disease with the presence of multiple (usually large) hyperplastic/serrated colorectal polyps, usually with a pancolonic distribution. Histology reveals hyperplastic polyps, sessile serrated adenomas (most common), traditional serrated adenomas or mixed polyps. It is associated with an increased personal and familial (first-degree relatives) risk of colorectal cancer. There is evidence this disease is caused by heterozygous mutation in the RNF43 gene on chromosome 17q22.|SNOMEDCT_US|N|
C4296979|An indication that it is known that an individual used smoked tobacco products, but it is unknown if they also used smokeless tobacco products.|NCI|N|
C4296980|An indication that individual only used both smoked and smokeless tobacco products.|NCI|N|
C4296981|An indication that individual used only smokeless tobacco products.|NCI|N|
C4296982|An indication that individual used only tobacco products that are smoked.|NCI|N|
C4301960|Squamous cell carcinoma of the anal canal is a rare epithelial intestinal neoplasm, arising from squamous epithelial cells in the anal canal, with variable macroscopic appearance, ranging from small, benign lesions (that mimick fissures, hemorrhoids or anorectal fistulae) to a large, exophytic or ulcerating tumor localized within the anal canal. Patients may be asymptomatic or present difficulty to defecate, anal bleeding, pain and/or discharge, and often have a history of chronic anal fistulae and abscesses, Crohn''s disease, hemorrhoids, or, especially in younger patients, immunosuppression (such as HIV infection). Association with HPV infection is commonly reported.|ORPHANET|N|
C4302012|Meets clinical case definition and has supportive or presumptive laboratory results that are consistent with the diagnosis, yet do not meet the criteria for laboratory confirmation.|SNOMEDCT_US|N|
C4302020|Meets clinical case definition; signs and symptoms with are consistent or compatible with a particular disease.|SNOMEDCT_US|N|
C4302055|A congenitally anomalous enlarged optic disc (surface area greater than 2.50 square millimeters). It is considered to be a normal variant without physiological defects.|HPO|N|
C4302087|The presence of infarcted brain tissue without a history of transient neurologic or stroke symptoms. The disorder occurs as a result of cessation of blood supply to the brain with subclinical and asymptomatic outcome due to the area of damage being very small or the cessation of supply occurring in a non-eloquent area of the brain.|SNOMEDCT_US|N|
C4302104|Renal papillary necrosis in a patient with type 1 or type 2 diabetes.|SNOMEDCT_US|N|
C4302106|Intact or non-intact area of persistent nonblanching deep red, maroon, or purple discolouration or epidermal separation with an underlying dark wound bed or blood blister.|SNOMEDCT_US|N|
C4302109|A rare systemic autoimmune disease characterized by cholestasis and diffuse cholangiographic abnormalities with circular and symmetrical bile duct wall thickening, and elevated serum IgG4 levels. Characteristic histopathological findings include dense infiltration of IgG4-positive plasma cells and extensive fibrosis in the bile duct wall. A marked response to steroid therapy is typical. Patients present with jaundice, cholangitis, pruritis, and sometimes associated findings of autoimmune pancreatitis, sialadenitis, and retroperitoneal fibrosis.|ORDO|N|
C4302112|A type of ataxia that is acquired during the lifetime of the individual.|MONDO|N|
C4302195|A group of rare genetic, vitamin D metabolism disorders characterized by hypocalcemia and rickets, and comprising of hypocalcemic vitamin D dependent rickets (VDDR-I) and hypocalcemic vitamin D resistant rickets (HVDRR). Characteristic clinical features include slow growth, bone pain and bone deformities. HVDRR is associated with resistance to vitamin D treatment.|ORDO|N|
C4302200|Central or secondary congenital hypothyroidism is a type of permanent congenital hypothyroidism (see this term) characterized by permanent thyroid hormone deficiency that is present from birth and secondary to a disorder in the thyroid-stimulating hormone (TSH) - thyrotropin-releasing hormone (TRH) system.|ORDO|N|
C4302243|Type 1 autoimmune pancreatitis is a form of autoimmune pancreatitis seen in elderly males (>60 years) and presenting with abdominal pain, steatorrhea, obstructive jaundice and other organ (bile duct, kidneys and retroperitoneum) involvement. It is thought to be due to an immunoglobulin G4 (IgG4)-associated systemic disease.|ORDO|N|
C4302263|A rare intestinal disease characterized by chronic or relapsing subileus or ileus resulting from multiple unexplained fibrous structures and multiple shallow (i. e. limited to the mucosa or submucosa) ulcerations of the small intestine (mainly the ileum), in the absence of signs of a systemic inflammatory reaction. Patients may present with chronic iron-deficiency anemia due to chronic intestinal blood loss, chronic recurrent abdominal pain, fatigue, edema, or growth retardation. Extraintestinal manifestations such as Sicca syndrome, polyarthralgia, or Raynaud's phenomenon may also be observed.|ORDO|N|
C4302342|Hemolytic uremic syndrome with either a family history of hemolytic uremic syndrome or a genetic mutation known to cause hemolytic uremic syndrome, or both.|SNOMEDCT_US|N|
C4302494|A person who habitually uses nicotine, whether by smoking or other delivery system (such as electronic cigarette).|SNOMEDCT_US|N|
C4302507|Syndrome with characteristics of microtia with thickened ear lobes, micrognathia and conductive hearing loss due to congenital ossicular anomalies. It has been described in two families. The mode of inheritance is autosomal dominant.|SNOMEDCT_US|N|
C4302508|A rare hematological disorder, seen almost exclusively in males, characterized by moderate to severe thrombocytopenia with hemorrhages with or without the presence of mild to severe anemia. The disease affects mainly males as females are usually asymptomatic or have only mild symptoms. It presents in infancy or in neonates (in severe cases) with patients bruising easily along with further manifestations of thrombocytopenia. The disease is caused by mutations in the GATA1 (Xp11.23) gene encoding GATA1, a transcriptional regulator involved in erythropoiesis and megakaryocytopoiesis. Different mutations found in this gene account for a variable phenotypic spectrum of disorders.|SNOMEDCT_US|N|
C4302514|Inherited distal renal tubular acidosis combined with sensorineural deafness.|SNOMEDCT_US|N|
C4302525|Syndrome with the association of bilateral macular coloboma, cleft palate, and hallux valgus. It has been described in a brother and sister. Pelvic, limb and digital anomalies were also reported. Transmission is autosomal recessive.|SNOMEDCT_US|N|
C4302529|An extremely rare autosomal dominant association reported in a single Swiss family with clinical characteristics of juvenile cataract associated with bilateral microcornea and renal glucosuria without other renal tubular defects.|SNOMEDCT_US|N|
C4302530|This syndrome has characteristics of hypoplastic corpus callosum, microcephaly, severe intellectual deficit, preauricular skin tags, camptodactyly, growth retardation, and recurrent bronchopneumonia. It has been described in four patients in two families. Transmission is autosomal recessive.|SNOMEDCT_US|N|
C4302546|Syndrome with characteristics of intellectual deficit, blindness caused by ocular malformations (microphthalmia, microcornea and sclerocornea), short stature, dysmorphic facial features (narrow nasal bridge and prominent ears), hypotrichosis, and malaligned teeth. It has been described in two siblings (brother and sister) and is likely to be transmitted as an autosomal recessive trait.|SNOMEDCT_US|N|
C4302547|A rare subtype of dystrophic epidermolysis bullosa that shows no blistering and that has characteristics of dystrophic or absent nails. Prevalence is unknown. Approximately ten families have been reported to date. However, this variant may be overlooked because of negligible clinical implications. Onset is usually at birth or during infancy. Except from nail involvement, no other cutaneous or extracutaneous symptoms are observed. Nail deformity is often limited to toenails that can appear thickened and shortened. Caused by mutations within the type VII collagen gene (COL7A1). It usually follows an autosomal dominant pattern of inheritance. One family with an autosomal recessive inheritance has also been reported.|SNOMEDCT_US|N|
C4302548|A rare skeletal dysplasia with characteristics of anisospondyly and multiple enchondromas in vertebrae and the metaphyseal and diaphyseal parts of long tubular bones, leading to kyphoscoliosis and lower limb asymmetry.|SNOMEDCT_US|N|
C4302549|The association of short stature due to mesomelic shortening of the limbs and Madelung deformity with hereditary nephritis. The syndrome was originally described in male and female members from four generations of one large kindred. The females appeared to be more severely affected than the males, with a sex ratio (female to male) of 4:1. The skeletal anomalies closely resembled those of Leri-Weill dyschondrosteosis. The mode of transmission was reported as autosomal dominant.|SNOMEDCT_US|N|
C4302550|Syndrome with the association of bilateral Duane anomaly type 3, severe scoliosis of early onset, congenital myopathy with hypotonia without muscular weakness, delayed motor development, and short stature. It has been described in one pair of siblings. The Duane type 3 anomaly consists of eye abduction and adduction palsy, globe retraction and narrowing of the palpebral fissure. Muscular biopsy shows aspecific myopathy. Intellectual development is normal. The syndrome is most likely inherited in an autosomal recessive manner.|SNOMEDCT_US|N|
C4302551|Distal trisomy of the short arm of chromosome 6 has characteristics of pre and postnatal growth retardation, a pattern of specific facial features (mostly of the eyes), microcephaly, and developmental delay. The duplicated region almost always includes 6pter, with proximal breakpoints ranging from 6p21 to 6p25. Interstitial duplications of 6p have also been reported with different phenotypes depending on their size and location. Most cases of distal trisomy 6p result from missegregation of a familial balanced translocation, or pericentric inversion, and are accompanied by another chromosomal imbalance. Intrachromosomal duplications or de novo translocations are also observed.|SNOMEDCT_US|N|
C4302552|A rare congenital urogenital anomaly characterized by the presence of double uterus (didelphys, bicornuate or septum-complete or partial), unilateral cervico-vaginal obstruction and ipsilateral renal anomalies (renal agenesis and/or other urinary tract anomalies). Patients are usually diagnosed at puberty after menarche due to recurrent severe dysmenorrhea, chronic pelvic pain, excessive foul smelling mucopurulent discharge, spotting and intermenstrual bleeding (depending on the existence of uterine or vaginal communications). Fever, dyspareunia, and a palpable abdominal, pelvic or vaginal mass (mucocolpos or pyocolpos) may also be present.|SNOMEDCT_US|N|
C4302582|Syndrome with the association of skin mastocytosis (appearing as diffuse pigmentation), short stature, microcephaly, conductive hearing loss, and dysmorphic features. It has been described in only two (female) cases: one with normal mental development born to consanguineous parents and the other with severe psychomotor retardation born to unrelated parents.|SNOMEDCT_US|N|
C4302592|An extremely rare autosomal recessive disorder with characteristics of bilateral facial palsy with masked facies, sensorineural hearing loss, dysmorphic features (midfacial retrusion, low-set ears) and strabismus.|SNOMEDCT_US|N|
C4302597|A rare disorder characterised by the combination of autoimmune intestinal disease, epileptic seizures and cerebral calcifications. Coeliac disease and epilepsy manifest at a variable age. Coeliac disease can present in a typical form with onset in the first 2 years of life. Coeliac disease may also present in silent or latent forms, which are characterised in the absence of gastrointestinal symptoms, by dermatitis herpetiformis, dental enamel defects or autoimmune thyroiditis. Epilepsy onset is between infancy and adulthood. Most patients present with occipital epileptic seizures, the course being highly variable, with benign, drug-resistant, or epileptic encephalopathy forms. It is not known if epilepsy and/or cerebral calcifications are a consequence of coeliac disease. This syndrome is associated with the HLA-DQ2 and HLA-DQ8 genes.|SNOMEDCT_US|N|
C4302604|Congenital nephrotic syndrome with evidence of diffuse mesangial sclerosis on histology or with DNA evidence of a genetic mutation associated with diffuse mesangial sclerosis.|SNOMEDCT_US|N|
C4302653|Neurodisability describes a group of congenital or acquired long-term conditions that are attributed to impairment of the brain and/or neuromuscular system and create functional limitations.|SNOMEDCT_US|N|
C4302667|Autosomal dominant intermediate Charcot-Marie-Tooth disease E with focal segmental glomerulonephritis is characterized by the neurologic features of CMT, including distal muscle weakness and atrophy and distal sensory loss, and the features of FSGS, including proteinuria, progression to end-stage renal disease, and a characteristic histologic pattern on renal biopsy (summary by Boyer et al., 2011).
Isolated focal segmental glomerulosclerosis-5 (FSGS5; 613237) is also caused by heterozygous mutation in the INF2 gene.
For a discussion of genetic heterogeneity of CMTDI, see 606482.|OMIM|N|
C4302668|A polymorphic disorder with characteristics of ataxia, sensorineural deafness and narcolepsy with cataplexy and dementia. Disease onset occurs in adulthood from the ages of 30-40. Mild brain atrophy with cerebellum involvement is visible with magnetic resonance imaging. Caused by a mutation in the DNA methyltransferase (DNMT1) gene located on chromosome 19p13.2. It encodes an enzyme essential for the repression of transcriptional activity in numerous postmitotic cells.|SNOMEDCT_US|N|
C4302669|A form of amyloidosis with characteristics of the accumulation and extensive visceral deposition of beta 2 microglobulin leading to progressive gastrointestinal dysfunction, Sjögren syndrome and autonomic neuropathy.|SNOMEDCT_US|N|
C4302671|An extremely rare autosomal dominant immunological disorder with characteristics of variable enteropathy, endocrine disorders (e.g. type 1 diabetes mellitus, hypothyroidism), immune dysregulation with pulmonary and blood-borne bacterial infections and fungal infections (chronic mucocutaneous candidiasis) developing in infancy. Other manifestations include short stature, eczema, hepatosplenomegaly, delayed puberty and osteoporosis/osteopenia.|SNOMEDCT_US|N|
C4302672|Syndrome marked by the presence of a unilateral angioma on the face and autistic developmental problems with characteristics of language delay and atypical social interactions. So far, the syndrome has been described in four children.|SNOMEDCT_US|N|
C4302673|Syndrome with a combination of symmetric severe distal limb reduction deficiencies affecting all four limbs (oligodactyly), microretrognathia, and microstomia with or without cleft palate. It has been reported in four patients; two of them were siblings and had moderate intellectual deficiency. Two non-related subjects also had severe myopia, bilateral conductive hearing loss and a renal change, referred to as oligomeganephronia, or renal hypoplasia. A 10q24 duplication or triplication was detected in all these patients, similar to the duplication detected in an isolated form of split hand foot malformation.|SNOMEDCT_US|N|
C4302677|A very rare dysmorphic disorder with characteristics of hypoplasia and coloboma of the alar cartilages and telecanthus described in 2 sisters. No new cases with similar features have been reported since 1976.|SNOMEDCT_US|N|
C4302678|An extremely rare and fatal association syndrome with characteristics of absence of the mandible, cerebral malformations with facial anomalies related to a defect in cleavage in the embryonic brain (e.g. synophthalmia, malformed and low-set ears fused in midline, agenesis of the olfactory bulbs, microstomia, hypoglossia/aglossia) and situs inversus partialis or totalis.|SNOMEDCT_US|N|
C4302679|A developmental anomaly syndrome with characteristics of coloboma of the iris and optic nerve, facial dysmorphism (high forehead, micro retrognathia, low-set ears) intellectual deficit, agenesis of the corpus callosum, sensorineural hearing loss, skeletal anomalies and short stature. Caused by mutation in the IGBP1 gene.|SNOMEDCT_US|N|
C4302680|This syndrome combines agammaglobulinemia with marked microcephaly, significant developmental delay, craniosynostosis, a severe dermatitis, cleft palate, narrowing of the choana and blepharophimosis. It has been described in three siblings, two males and one female, born to nonconsanguineous parents. Transmission is probably autosomal recessive. It has been suggested that this syndrome represents a new form of agammaglobulinemia due to a defect in early B-cell maturation.|SNOMEDCT_US|N|
C4302684|Congenital nephrotic syndrome with evidence of an underlying congenital infection (e.g. syphilis, toxoplasmosis, rubella, hepatitis B).|SNOMEDCT_US|N|
C4302744|This syndrome has characteristics of X-linked intellectual disability, microcephaly, optical atrophy with impaired vision or blindness, a severe hearing defect, facial dysmorphology, spasticity, epileptic seizures and restricted joint movement. It has been described in seven children from two generations of a Swedish family. All patients died in during early childhood.|SNOMEDCT_US|N|
C4302746|A very rare heart-hand syndrome that has characteristics of a variety of cardiovascular anomalies including patent arterial duct, bicuspid aortic valve and pseudocoarctation of the aorta in conjunction with hand anomalies such as brachydactyly and ulnar ray derivative i.e. fifth metacarpal hypoplasia. Transmission is most likely autosomal dominant although X-linked dominance could not be excluded.|SNOMEDCT_US|N|
C4302748|This syndrome has characteristics of sex reversal in males with a 46, XX (SRY-negative) karyotype, palmoplantar hyperkeratosis and a predisposition to squamous cell carcinoma. To date, five cases (four of whom were brothers) have been described.|SNOMEDCT_US|N|
C4302768|A status of immunisation which is suboptimal for a person.|SNOMEDCT_US|N|
C4302794|Chronic kidney disease associated with chronic infection.|SNOMEDCT_US|N|
C4302795|Chronic kidney disease developing as a result of removal of kidney tissue (including partial nephrectomy and radical nephrectomy) for the treatment of renal tumor.|SNOMEDCT_US|N|
C4302796|Focal and segmental glomerulosclerosis in a patient with sickle cell disease.|SNOMEDCT_US|N|
C4302801|Focal and segmental glomerulosclerosis in association with long-term treatment with lithium carbonate, after exclusion of alternative causes.|SNOMEDCT_US|N|
C4302813|This syndrome has characteristics of tall stature, learning difficulties and facial dysmorphism. So far, it has been described in six families. The syndrome is caused by mutations in the RNF135 (ring finger protein 135) gene.|SNOMEDCT_US|N|
C4302814|Glomerulonephritis with electron dense deposits in the glomerular baseement membrane, associated with treatment with a drug known to be associated with membranous nephropathy and after exclusion of alternative causes.|SNOMEDCT_US|N|
C4302815|This syndrome has characteristics of sclerosing bone dysplasia, ichthyosis vulgaris and premature ovarian failure. The bone disorder affects all metaphyseal-diaphyseal regions of the long bones, the skull, and the metacarpals. It has been described in three adult sisters presenting with swelling of the limbs and occasional mild pain in the legs.|SNOMEDCT_US|N|
C4302818|Syndrome with characteristics of osteosclerosis, developmental delay and craniosynostosis. It has been reported in 13 patients from a four-generation family. Osteosclerosis was constant and most pronounced in the cranial base and calvarium. Craniosynostosis was reported in four patients and a mild developmental delay in three patients. Dysmorphic features were constant and included macrocephaly, brachycephaly, wide and high forehead, hypertelorism, prominent cheekbones and prominent jaw. A missense mutation A214T in the low-density lipoprotein receptor related protein 5 gene.|SNOMEDCT_US|N|
C4302823|Osteopenia-myopia-hearing loss-intellectual disability-facial dysmorphism syndrome is characterized by severe hypertelorism, brachycephaly, abnormal ears, sloping shoulders, enamel hypoplasia, osteopaenia with frequent fractures, severe myopia, mild to moderate sensorineural hearing loss and mild intellectual deficit. It has been described in two brothers born to first-cousin parents. No chromosomal anomalies were detected. Transmission appears to be autosomal recessive or X-linked.|MONDO|N|
C4302824|This syndrome has characteristics of osteogenesis imperfecta, wormian bones, optic atrophy, retinopathy, seizures and severe developmental delay. It has been described in two siblings born to consanguineous parents.|SNOMEDCT_US|N|
C4302825|This syndrome has characteristics of severe dwarfism, progressive scoliosis and bilateral dislocation of the hip, associated with sensorineural deafness and retinitis pigmentosa. Radiographs show diffuse osteoporosis, severe bone-age delay and dysplasia of the femoral head. It has been described in two patients. Transmission is autosomal dominant variable penetrance.|SNOMEDCT_US|N|
C4302826|This syndrome has characteristics of hypomineralisation of the cranial bones, thoracic dystrophy, hypotonia and abnormal and slender long bones due to an alteration in remodelling during ossification. It has been described in two brothers and was present at birth. The surviving boy displayed progressive osteopenia, slow healing of the periostal anomalies, hepatic angiomas, a thoracic deformity, delayed tooth eruption, progressive microcephaly with dilation of the cerebral ventricles and mental and motor delay.|SNOMEDCT_US|N|
C4302830|Chronic kidney disease developing de novo in a person who has previously donated a kidney for the purposes of kidney transplanataion.|SNOMEDCT_US|N|
C4302831|Pre-renal acute kidney injury caused by reduction in circulating blood volume, distinct from other potential causes of pre-renal acute kidney injury, e.g. sepsis, decreased arterial blood pressure.|SNOMEDCT_US|N|
C4302832|Acute kidney injury caused by heart failure. Also known as Cardiorenal syndrome type 1.|SNOMEDCT_US|N|
C4302835|Potential complication following surgery|SNOMEDCT_US|N|
C4302840|Obstructive nephropathy which has developed in a patient with bladder cancer.|SNOMEDCT_US|N|
C4302857|Glomerulonephritis with electron dense deposits in the glomerular baseement membrane in a patient with cancer, after exclusion of other possible causes of membranous glomerulonephritis.|SNOMEDCT_US|N|
C4302859|Renal papillary necrosis in a patient with sickle cell disease or sickle cell trait.|SNOMEDCT_US|N|
C4302862|Obstructive nephropathy which has developed in a patient with evidence of prostatic carcinoma.|SNOMEDCT_US|N|
C4302864|Obstructive nephropathy which has developed in a patient with evidence of bladder outflow obstruction caused by benign prostatic hypertrophy.|SNOMEDCT_US|N|
C4302868|Obstructive nephropathy which has developed in a patient with a history of spinal cord injury or disease.|SNOMEDCT_US|N|
C4302876|A rare non-progressive form of cone photoreceptor dysfunction characterized by reduced visual acuity, normal retinal appearance and absent or reduce cone responses on electroretinography but normal color vision. The syndrome is very rare with only 14 cases reported in the literature so far. The causative gene has not been identified. The reason for the presence of normal color vision despite the reduced visual acuity and electrophysiological evidence of severe cone dysfunction is uncertain. It has been proposed that patients may have reduced numbers of normal functioning cones with preservation of the three cone types in normal proportions thereby enabling normal color vision.|SNOMEDCT_US|N|
C4302879|Syndrome with characteristics of precocious obesity, congenital hypothyroidism, neonatal colitis, cardiac hypertrophy, craniosynostosis and developmental delay. It has been described in two brothers, one of who died within the first month of life. The parents of the two children were nonconsanguineous and in good health however the pregnancies were complicated by maternal HELLP syndrome (Hemolysis, Elevated Liver enzymes and Low Platelets). The mode of inheritance has not yet been clearly established.|SNOMEDCT_US|N|
C4302893|MPPH (megalencephaly-postaxial polydactyly-polymicrogyria-hydrocephalus) syndrome is a developmental brain disorder characterized by megalencephaly (brain overgrowth) with the cortical malformation bilateral perisylvian polymicrogyria (BPP). At birth the occipital frontal circumference (OFC) ranges from normal to 6 standard deviations (SD) above the mean for age, sex, and gestational age; in older individuals the range is from 3 to 10 SD above the mean. A variable degree of ventriculomegaly is seen in almost all children with MPPH syndrome; nearly 50% of individuals have frank hydrocephalus. Neurologic problems associated with BPP include oromotor dysfunction (100%), epilepsy (50%), and mild-to-severe intellectual disability (100%). Postaxial hexadactyly occurs in 50% of individuals with MPPH syndrome.|GeneReviews|N|
C4302897|Syndrome with characteristics of hypogonadotropic hypogonadism associated with gonadotropin-releasing hormone (GnRH) deficiency, anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs) and complex congenital cardiac malformations (double-outlet right ventricle, dilated cardiomyopathy, right aortic arch). It represents a distinct clinical entity from Kallmann syndrome. Less than 10 cases have been described so far.|SNOMEDCT_US|N|
C4302907|A developmental defect that may be asymptomatic or lead to cerebrovascular lesions. It is a rare malformation, with only around hundred cases reported in the literature. When symptoms are present, they are caused by cerebrovascular insufficiency, compression of the brain by vessels that dilate to compensate for the absence of the internal carotid artery, or the presence of an aneurysm. Associated intracranial aneurysms occur in 25 to 35% of patients.|SNOMEDCT_US|N|
C4302916|This syndrome has characteristics of prenatal linear growth deficiency, hypertrophied alveolar ridges, redundant nuchal skin, postaxial polydactyly and cryptorchidism. Mullerian duct remnants, lymphangiectasis and renal anomalies are also present. Three cases have been described. A small penis was observed in two of these cases. The syndrome is likely to be an autosomal recessive or X-linked trait. All the reported patients died neonatally of hepatic failure.|SNOMEDCT_US|N|
C4302917|This syndrome is characterised by the variable association of a cerebrovascular malformation, foot lymphoedema and primary pulmonary hypertension. It has been described in a woman and four of her children.|SNOMEDCT_US|N|
C4302918|A very rare syndrome with characteristics of unilateral complete or partial lung agenesis, congenital cardiac defects and ipsilateral thumb anomalies. It has been described in 7 patients. Cardiac abnormalities are variable and mainly consist of atrial septal defect, anomalous pulmonary venous return or patent ductus arteriosus. Thumb anomalies include triphalangeal, proximally placed, hypoplastic or reduplicated thumb. One patient had a preaxial polydactyly with a rudimentary thumb. Other malformations can be also observed. The affected patients have normal intellectual development.|SNOMEDCT_US|N|
C4302919|This syndrome is characterised by immune deficiency, gonadal dysgenesis and fatal lung fibrosis. So far, it has been described in two sisters born to consanguineous parents. Both karyotypes were normal female (46,XX). No genetic anomalies could be identified by comparative genome hybridisation analysis of their genomes or by analysis of genes known to be associated with these types of anomalies.|SNOMEDCT_US|N|
C4302920|An extremely rare form of genetic lipodystrophy, reported in 3 patients from one family to date, characterized by generalized congenital lipodystrophy, low birth weight, progressive sensorineural deafness occurring in childhood, intellectual deficit, progressive osteopenia, delayed skeletal maturation, skeletal abnormalities described as slender, undermineralized tubular bones and dense metaphyseal striations in the distal femur, ulna and radius of older patients. Autosomal recessive inheritance has been suggested.|SNOMEDCT_US|N|
C4303067|Syndrome with the association of microgastria and limb reduction defect. Most of the 50 cases of congenital microgastria reported in the literature are associated with other multiple congenital anomalies. Isolated congenital microgastria is an extremely rare condition; only three cases have been reported in the literature so far. The clinical manifestations of congenital microgastria depend on the stage at which the embryologic development of the stomach is arrested. The microgastria-limb reduction association is believed to arise as a result of aberrant mesodermal development in the fourth or fifth week of embryonic life. The outcome for most of the reported patients with severe microgastria was either death or extreme malnutrition.|SNOMEDCT_US|N|
C4303068|Familial and de novo recurrent Xp11.22-p11.23 microduplication has been recently identified in males and females. To date, twelve patients have been described. All patients show moderate to severe intellectual deficit and speech delay. Seizures, early puberty and lower-extremity anomalies, including pes planus or cavus, fifth toe hypoplasia, and syndactyly, are common. Most affected females show preferential activation of the duplicated X chromosome. Duplications are mediated by nonallelic homologous recombination or Alu-mediated recombination.|SNOMEDCT_US|N|
C4303071|A genetic variant of mendelian susceptibly to mycobacterial disease with characteristics of a complete deficiency in interferon gamma receptor 2, leading to an undetectable response to interferon gamma and consequently to severe and often fatal infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria. The prevalence is unknown. Only ten children have been identified to date. This disease is caused by mutations in IFNGR2 on chromosome 21q22.1-22.2 which encodes the IFN-gamma receptor signal transducing chain, essential for IFN-gamma mediated immunity. Two clinically indistinguishable forms have been reportedly defined by the presence or absence of protein expression on the cell surface.|SNOMEDCT_US|N|
C4303079|Syndrome with the association of hypogonadotropic hypogonadism and frontoparietal alopecia. It has been described in six members (four males and two females) of a consanguineous Lebanese family. In addition to frontoparietal alopecia, the remaining scalp hair was also sparse and axillary and pubic hair was absent. Despite the family history of consanguinity, autosomal dominant inheritance with reduced penetrance was considered as the most likely mode of transmission.|SNOMEDCT_US|N|
C4303080|A rare autosomal dominantly inherited disease of childhood characterized by hypoproliferative anemia, hyperuricemia and slowly progressing kidney failure due to dysregulation of the renin-angiotensin system.|SNOMEDCT_US|N|
C4303081|Hypertrichosis-acromegaloid facial appearance syndrome (HAFF) is a very rare multiple congenital abnormality syndrome manifesting from birth with progressive hypertrichosis congenita terminalis (thick scalp hair extending onto the forehead with generalized increased body hair) associated with a typical acromegaloid facial appearance (thick eyebrows, prominent supraorbital ridges, broad nasal bridge, anteverted nares, long and large philtrum, and prominent mouth with full lips) appearing during childhood. HAFF seems to belong to a spectrum of phenotypes with the clinically overlapping acromegaloid facial appearance syndrome and hypertrichotic osteochondrodysplasia, CantC9 type.|MONDO|N|
C4303082|A form of diazoxide-sensitive diffuse hyperinsulinism characterized by hypoglycemic episodes from the neonatal period, a good clinical response to diazoxide and a probable transient nature of the disease with spontaneous resolution.|SNOMEDCT_US|N|
C4303135|An disease or disorder caused by infection with Enterovirus C.|MONDO|N|
C4303162|Autoimmune hepatitis characterized by the presence of antibodies to soluble liver or liver-pancreas antigens.|MONDO|N|
C4303163|A form of autoimmune hepatitis characterized by clinical presentation as cryptogenic hepatitis, interface hepatitis on histological examination, elevated serum aminotransferase levels, hypergammaglobulinemia/elevated immunoglobulin G, and presence of circulating autoantibodies, specifically antibodies to liver kidney microsome type 1 (anti-LKM1) and anti-liver cytosol type 1 (anti-LC1) antibodies. The disease typically manifests in childhood or adolescence with an acute onset, often with acute liver failure. Long-term immunosuppression is usually required. Reported concurrent autoimmune diseases are autoimmune thyroiditis, diabetes mellitus, and vitiligo.|ORDO|N|
C4303164|A form of autoimmune hepatitis characterized by clinical presentation as cryptogenic hepatitis, interface hepatitis on histological examination, elevated serum aminotransferase levels, hypergammaglobulinemia/elevated immunoglobulin G, and presence of circulating autoantibodies, specifically antinuclear antibodies (ANA), anti-smooth muscle antibodies (anti-SMA), and/or anti-soluble liver antigen/liver pancreas antigen antibodies (anti-SLA/LP). The disease predominantly develops at a post-pubertal age and most commonly takes a chronic course, although acute or acute severe presentation may also be observed. Typical concurrent autoimmune diseases are autoimmune thyroiditis and rheumatic diseases.|ORDO|N|
C4303207|A congenital developmental abnormality of the jejunum where there are multiple gaps in the intestine due to a mesenteric defect with elements of type I, type II and type III atresia creating a morphological appearance of a string of sausages; the intestine is always reduced in length.|SNOMEDCT_US|N|
C4303208|A congenital developmental abnormality of the jejunum where there is a gap in the intestine due to a mesenteric defect associated with abnormal mesenteric arterial supply and a distal intestinal segment spiral deformity, frequently described as having an apple peel appearance; the intestine is reduced in length.|SNOMEDCT_US|N|
C4303226|Gastric linitis plastica (gastric LP) is a malignant, diffuse, infiltrative gastric adenocarcinoma.|ORDO|N|
C4303254|Breast solid papillary carcinoma characterized by the presence of nodules with rounded, well-circumscribed contours and a distribution pattern consistent with an in situ process. (WHO 2019)|NCI|N|
C4303267|An angiosarcoma that arises from the breast parenchyma and is not associated with radiation exposure.|NCI|N|
C4303284|The absence of one or more breasts, the cause of which is not present at birth.|NCI|N|
C4303422|A rare and very aggressive neoplastic disease emerging after a primary acute or chronic active EBV infection. It presents with persisting fever and malaise, hepatosplenomegaly with or without lymphadenopathy, liver failure, severe pancytopenia and a rapid progression towards multi-organ failure and hemophagocytic syndrome with a fatal issue. It is characterized by clonal proliferation of EBV-infected T cells with an activated cytotoxic phenotype.|ORDO|N|
C4303473|A mitochondrial fatty acid oxidation disorder characterized by hyperinsulinemic hypoglycemia with seizures, and in one case fulminant hepatic failure. Less than 10 cases have been reported to date. The disease can present in infancy or early childhood. It presents with the manifestations of hyperinsulinemic hypoglycemia with vomiting, lethargy and seizures. Complications include coma and sudden death. It has responded well to diazoxide. It is caused by a mutation in the HADH gene (4q22-q26) encoding the SCHAD protein that has a dual function both as an enzyme and an inhibitor of glutamate dehydrogenase. The mode of inheritance is autosomal recessive.|SNOMEDCT_US|N|
C4303474|A very rare autosomal dominant form of familial hyperinsulinism characterized clinically in the single reported family by postprandial hypoglycemia, fasting hyperinsulinemia, an elevated serum insulin-to-C peptide ratio and a variable age of onset.|SNOMEDCT_US|N|
C4303475|A form of diazoxide-sensitive diffuse hyperinsulinism, characterized by transient or persistent hyperinsulinemic hypoglycemia in infancy that is responsive to diazoxide, evolving in to maturity-onset diabetes of the young subtype 1 later in life.|SNOMEDCT_US|N|
C4303476|Syndrome with the association of congenital hydrocephalus, centripetal obesity, hypogonadism, intellectual deficit and short stature. It has been described in two males from one family. An X-linked recessive mode of inheritance was suggested.|SNOMEDCT_US|N|
C4303478|A life-threatening disorder, believed to be a cardiovascular clinical variant manifestation of Behcet disease, with the association of multiple pulmonary artery aneurysms and peripheral venous thrombosis. Prevalence is unknown but fewer than 30 cases have been reported in the literature since its first description in 1959 by Hughes and Stovin. Patients (mostly men aged 12-40 years) generally present with the nonspecific signs of pulmonary artery aneurysms, following a history of peripheral venous thrombosis. Other associated signs may include fever and intracranial hypertension. Aneurysms can occur anywhere in the systemic circulation. Recurrent phlebitis also commonly involves the large vessels, resulting in thrombus formation. In general, there is a predisposition for thrombus formation affecting the peripheral veins. It is assumed the disease is a form of vasculitis following a similar mechanism of pathogenesis to that thought to be involved in Behcet disease.|SNOMEDCT_US|N|
C4303479|An inborn error of vitamin B12 (cobalamin) metabolism characterised by megaloblastic anaemia, encephalopathy and sometimes, developmental delay, and associated with homocystinuria and hyperhomocysteinemia. There are three types of homocystinuria without methylmalonic aciduria; cblE, cblG and cblD-variant 1 (cblDv1). These disorders are caused by a functional deficiency of the cytoplasmic enzyme methionine synthase (MS), which catalyses remethylation of homocysteine to form methionine.|SNOMEDCT_US|N|
C4303481|This syndrome has characteristics of Hirschsprung disease and absence or hypoplasia of the nails and distal phalanges of the thumbs and great toes (type D brachydactyly). It has been described in four males from one family (two brothers and two maternal uncles). Transmission appears to be X-linked recessive but autosomal dominant inheritance with incomplete penetrance in females cannot be ruled out.|SNOMEDCT_US|N|
C4303482|An exceedingly rare form of prion disease with characteristics of neuropathological features of Alzheimer disease including memory impairment and depression, related to abnormal prion protein (PrP) caused by a gene mutation in PRNP. Patients present with a prolonged, atypical course (absence of myoclonus or ataxia) unlike other forms of prion disease, with severe neurofibrillary tangle pathology and high levels of cerebral amyloidosis.|SNOMEDCT_US|N|
C4303524|A rare, congenital, non-syndromic esophageal malformation characterized by tubular or spherical cystic masses that have a double layer of surrounding smooth muscle lined with squamous or enteric epithelium, and are continuous or contiguous to the esophagus. The cyst is typically distally located and may or may not communicate with the esophageal lumen. Most become symptomatic presenting with a wide range of symptoms including dysphagia, non-productive cough, chest pain or failure to thrive. Others like palpitations due cardiac arrhythmia, thoracic back pain, and fever due to mediastinitis, have also been reported.|ORDO|N|
C4303527|A rare human prion disease characterized by accumulation of abnormal prion protein markedly less protease-resistant than in other prion diseases, depending on the genotype at codon 129 of the prion protein gene. No mutations are found in the coding sequence of the gene. Neuropathological analysis shows spongiform change and prion protein deposition with microplaques in the cerebellum. Patients present with slowly progressive cognitive and motor decline, psychiatric symptoms, ataxia, myoclonus, or tremor, among others. The disease is fatal and transmissible to other individuals.|ORDO|N|
C4303540|An instance of primary ovarian failure that is acquired during the lifetime of the individual.|MONDO|N|
C4303545|Goossens-Devriendt syndrome has characteristics of intrauterine growth retardation, a congenital heart defect, postaxial polydactyly, brain malformation, abnormal hair with temporal balding and marked facial dysmorphism. It has been reported in two siblings from unrelated parents. One of the siblings died and the surviving patient showed postnatal growth retardation and severe developmental delay.|SNOMEDCT_US|N|
C4303546|An infantile-onset neurometabolic disease with characteristics of dystonia, parkinsonism, nonambulation, autonomic dysfunction, developmental delay and mood disturbances. The prevalence is unknown. It has been described in 8 patients from one Saudi Arabian family to date. Caused by a mutation in the SLC18A2 gene (10q25), encoding the vesicular monoamine transporter 2 (VMAT2) which is responsible for the transport of dopamine and serotonin into synaptic vesicles. Mutations in this gene lead to the impairment of VMAT2 and consequently to problems with motor control, autonomic functioning and mood regulation. It is inherited in an autosomal recessive manner.|SNOMEDCT_US|N|
C4303548|This syndrome associates progressive visual loss with scoliosis or kyphoscoliosis and arachnodactyly of the fingers and toes. The syndrome has been described in four patients (three males and one female) from the same family. The male patients presented with the complete phenotype while the female patient suffered only from blindness. No mutations were found in the FBN1, TGFBR1 and TGFBR2 genes that are associated with other syndromes presenting similar clinical findings.|SNOMEDCT_US|N|
C4303549|This syndrome has characteristics of bilateral congenital blepharoptosis, ectopia lentis and high myopia. It has been described in three members of one family (in a mother and her two daughters). Transmission appears to be autosomal dominant.|SNOMEDCT_US|N|
C4303550|Syndrome with the association of blepharophimosis and ptosis, V-esotropia and weakness of extraocular and frontal muscles, syndactyly of the toes, short stature, prognathism, hypertrophy and fusion of the eyebrows. It has been described in six members of three related families. Transmission is autosomal recessive.|SNOMEDCT_US|N|
C4303551|Syndrome with the association of bilateral microtia, severe to profound hearing impairment and cleft palate. It has been described in four individuals from a consanguineous Iranian family. The syndrome is caused by point mutations in the HOXA2 gene, a gene that has already been shown to be involved in development of the auditory system in mice.|SNOMEDCT_US|N|
C4303552|An extremely rare form of carbohydrate deficient glycoprotein syndrome with, in the single reported case to date, seizures, some dysmorphic features, axial hypotonia, slight peripheral hypertonia and hyperreflexia.|SNOMEDCT_US|N|
C4303566|This syndrome has characteristics of sensory and autonomic axonal neuropathy, sensorineural hearing loss and persistent global developmental delay. It has been described in four individuals from a consanguineous Lebanese family. Onset occurred in infancy with moderate developmental delay, hypotonia and areflexia. Other less constant findings included weakness, variable dysmorphic features, unsteadiness, and optic atrophy. Transmission appears to be autosomal recessive.|SNOMEDCT_US|N|
C4303568|An extremely rare genetic glycogen storage disease reported in one patient to date. Clinical signs included muscle weakness, cardiac arrhythmia associated with accumulation of abnormal storage material in the heart and glycogen depletion in skeletal muscle. Caused by compound heterozygous mutation in the glycogenin 1 (GYG1) gene, which encodes glycogenin-1, on chromosome 3q24.|SNOMEDCT_US|N|
C4303569|A disorder belonging to the group of oromandibular-limb hypogenesis syndromes with the presence of an intraoral band of variable thickness attaching the tongue to the hard palate or maxillary alveolar ridge. The syndrome is very rare with less than 30 cases reported in the literature so far. Associated anomalies include cleft palate (in which case the tongue may be attached to the nasal septum), mandibular hypoplasia, upper-lip hypoplasia, hypodontia and variable limb anomalies (oligodactyly, syndactyly and polydactyly as well as more severe limb malformations). The syndrome appears to be sporadic.|SNOMEDCT_US|N|
C4303570|This syndrome is characterized by the association of global developmental delay, osteopenia and skin anomalies. To date, only three cases (two brothers and one unrelated girl) have been reported. Central nervous system anomalies manifest as poor language skills, inappropriate behavior (temper tantrums, aggressiveness), concentration and attention span difficulties and impulsiveness. Intellectual deficit was reported in two out of the three cases. Skin anomalies were hyperkeratosis, granular layer thickening, and sweat gland and melanocyte abnormalities.|SNOMEDCT_US|N|
C4303571|A form of combined immunodeficiency characterised by recurrent viral, bacterial, mycobacterial and fungal infections from birth, chronic diarrhoea, pneumonia, meningitis, enteritis, gastrointestinal candidiasis, sepsis and otitis media. All patients present with ectodermal dysplasia that is characterised by hypocalcified amelogenesis imperfecta and leads to the loss of soft dental enamel. In addition, patients present at birth with congenital myopathy, which is characterised by non-progressive generalised muscular dysplasia. Caused by mutations in the ORAI1 and STIM1 genes (12q24 and 11p15.5). Transmission is autosomal recessive.|SNOMEDCT_US|N|
C4303588|Syndrome with the association of diffuse palmoplantar keratoderma and acrocyanosis. It has been described in eight members of one family and in two sporadic cases. The mode of inheritance in the familial cases was autosomal dominant.|SNOMEDCT_US|N|
C4303589|Syndrome with the association of classical diaphragmatic hernia (Bochdalek type), severe lung hypoplasia and variable associated malformations. It has been reported only once in four successive fetuses (two females and two males) born to a nonconsanguineous couple. The spectrum of malformations is wide and includes omphalocele (one case), severe limb hypoplasia (two cases), syndactyly of the toes (two cases), extra spleen (one case) and an ossification defect of the skull (one case).|SNOMEDCT_US|N|
C4303590|This syndrome is characterised by the association of midline malformations, sensory hearing loss, and a delayed-onset generalised dystonia syndrome. It has been described in two monozygotic twins. The syndrome is caused by a missense point mutation in the gene coding for beta-actin, a nonmuscle actin isoform. Mutations in nonmuscle actin isoforms may be associated with developmental anomalies and neurological disorders such as dystonia.|SNOMEDCT_US|N|
C4303592|Syndrome with the association of dentinogenesis imperfecta, delayed tooth eruption, facial dysmorphism, small stature, sensorineural hearing loss and mild intellectual deficit. It has been described in two brothers born to consanguineous parents. Transmission is autosomal recessive.|SNOMEDCT_US|N|
C4303593|A very rare, generally severe form of neonatal diabetes mellitus with characteristics of a triad of developmental delay, epilepsy, and neonatal diabetes. Fewer than 40 cases have been reported to date. DEND syndrome represents the most severe end of the neonatal diabetes mellitus spectrum. The associated neurologic features range from mild psychomotor retardation to severe developmental delay. Patients also have therapy-resistant epilepsy and muscle hypotonia. Caused in most cases by gain of channel function mutations in the KCNJ11 gene (11p15.1), encoding a subunit of the ATP-sensitive potassium (KATP) channel. Rare reports of specific mutations in the ABCC8 gene (11p15.1) have also been associated with DEND. The pattern of inheritance of DEND syndrome is either de novo mutation, dominant, or very rarely recessive.|SNOMEDCT_US|N|
C4303612|Short stature due to primary acid-labile subunit (ALS) deficiency is characterised by moderate postnatal growth deficit, markedly low circulating levels of insulin-like growth factor 1 (IGF-1) and insulin-like growth factor binding protein 3 (IGFBP-3) and hyperinsulinaemia, in the absence of growth hormone (GH) deficiency or GH insensitivity. Less than 10 cases have been reported in the literature so far. It is caused by homozygous inactivating mutations of the ALS gene (IGFALS; 16p13.3). Primary ALS deficiency is inherited in an autosomal recessive manner.|SNOMEDCT_US|N|
C4303613|This syndrome has characteristics of short stature, anterior pituitary hormone deficiency, small sella turcica and a hypoplastic anterior hypophysis associated with pointed cerebellar tonsils. It has been described in three generations of large French kindred. Ectopia of the posterior hypophysis was observed in some patients. The syndrome is transmitted as a dominantly inherited trait and is caused by a germline mutation within the LIM-homeobox transcription factor LHX4 gene (1q25).|SNOMEDCT_US|N|
C4303621|This syndrome has characteristics of bilateral shortening of the fifth fingers and fifth metacarpals. It has been described in several members of one family. Some members of the family also had spherocytosis and insulin resistance. Transmission is autosomal dominant.|SNOMEDCT_US|N|
C4303632|Thoracic insufficiency syndrome is a complex condition involving congenital chest wall deformities that affect normal breathing and lung growth. It results from serious defects affecting the ribs or chest wall, such as severe scoliosis or rib fusion, and various hypoplastic thorax syndromes such as Jeune Syndrome and Jarcho-Levin syndrome.|SNOMEDCT_US|N|
C4303665|A genetic variant of Mendelian susceptibility to mycobacterial disease with characteristics of mild bacillus Calmette-Guérin (BCG) infections and recurrent Salmonella infections. The prevalence is unknown. The disease presents in early childhood. BCG is the most common infection encountered, usually after receiving the vaccination. Non-typhoidal Salmonella infections are also seen in half of all cases. Caused by homozygous mutations in the IL12B gene on chromosome 5q31.1-q33.1 which encodes for the IL-12p40 subunit. There are 9 different IL12B mutant alleles identified, including 2 small insertions, 3 small deletions, 2 splice site mutations, 1 large deletion and 1 nonsense mutation.|SNOMEDCT_US|N|
C4303670|Syndrome with the association of proximal fusion of the radius and ulna and congenital amegakaryocytic thrombocytopenia. Less than 10 cases have been reported in the literature so far. The syndrome is transmitted as an autosomal dominant trait and is caused by mutations in the HOXA11 gene (7p15).|SNOMEDCT_US|N|
C4303736|An extremely rare syndrome described in three members of a family (a mother and her two children) with the association of various ocular abnormalities (partial or complete aniridia, ptosis, pendular nystagmus, corneal pannus, persistent pupillary membrane, lenticular opacities, foveal hypoplasia and low visual acuity) with various systemic anomalies including intellectual disability and obesity in the two children and alopecia, cardiac abnormalities and frequent spontaneous abortion in the mother. There have been no further descriptions in the literature since 1986.|SNOMEDCT_US|N|
C4303737|This syndrome is characterised by severe immunodeficiency, osteopetrosis, lymphoedema and anhidrotic ectodermal dysplasia. It has been described in a few unrelated male patients born to mothers with mild incontinentia pigmenti. The first two reported children died before three years of age from multiple infections with Gram-positive cocci, Gram-negative bacilli, mycobacteria, and fungi. The syndrome is classified as a X-linked osteopetrosis and is caused by mutations in the IKBKG (NEMO) gene (Xq28).|SNOMEDCT_US|N|
C4303739|Syndrome with characteristics of severe retinal dystrophy marked by visual impairment and profound photophobia without night blindness. Eye examination suggested a cone-rod type of congenital amaurosis. Trichomegaly, bushy eyebrows with synophrys and excessive facial and body hair were also reported. The syndrome has been described in two female cousins both born to consanguineous parents.|SNOMEDCT_US|N|
C4303740|This syndrome has characteristics of the association of total alopecia (present at birth), mild intellectual deficit and hypergonadotropic hypogonadism. It has been described in two brothers born to non consanguineous parents of Caucasian origin. Electroencephalogram findings were normal in both cases. Autosomal recessive transmission was considered likely but an X-linked recessive mode of inheritance could not be excluded.|SNOMEDCT_US|N|
C4303742|A form of ectodermal dysplasia syndrome with characteristics of short stature of prenatal onset, alopecia, ichthyosis, photophobia, ectrodactyly, seizures, scoliosis, multiple contractures, fusions of various bones, particularly elbows, carpals, metacarpals, and spine, intellectual disability and facial dysmorphism.|SNOMEDCT_US|N|
C4303743|An event lasting less than a minute in an infant younger than 1 year of age reported by an observer that is now resolved. Including one or more of the following: cyanosis or pallor; absent, decreased, or irregular breathing; marked change in tone (hypertonia or hypotonia); and altered level of responsiveness. Diagnosed only when there is no explanation for a qualifying event after a history and physical examination and used to evaluate patients who are at lower risk for a subsequent event or serious underlying disorder.|SNOMEDCT_US|N|
C4303758|Fibular dimelia accompanied by complete tibial agenesis and mirror polydactyly or foot duplication is a rare developmental anomaly reported in at least 11 cases. It can be isolated or associated with ulnar dimelia, facial abnormalities and sacrococcygeal teratoma. The cause is unknown, but has been suggested that a teratogenic event occurs as developmental specification reaches the level of the future knee. A central role for the mesenchymal precursor, from which chondro-osseous morphology emerges, has also been suggested. Treatment is surgical and prosthesis is needed in order to improve the quality of life of affected children.|SNOMEDCT_US|N|
C4303759|This syndrome has characteristics of fibular aplasia and ectrodactyly. Less than 50 familial and sporadic cases have been reported in the literature. Shortening of the femur, a curved tibia, severe foot anomalies and pathologies of the hip, knee and ankle may also be present. The disorder is probably inherited as an autosomal dominant trait, with reduced penetrance, especially in females.|SNOMEDCT_US|N|
C4303760|An extremely rare clinically heterogenous disorder described in about 5 patients to date. Clinical signs included hypotonia, lactic acidosis, and hepatic insufficiency, with progressive encephalomyopathy or hypertrophic cardiomyopathy.|SNOMEDCT_US|N|
C4303761|A type of thrombocytosis, a sustained elevation of platelet numbers, which affects the platelet/megakaryocyte lineage and may create a tendency for thrombosis and hemorrhage but does not cause myeloproliferation. The disease usually presents at birth but can be discovered at any time during life and thus can affect all ages. Familial thrombocytosis is caused by germline mutations in the THPO gene (3q26.3-q27) or in the MPL (MPL S505N) gene (1p34).|SNOMEDCT_US|N|
C4303785|A lysosomal storage disease belonging to the group of sphingolipidoses. It is very rare with less than 10 cases reported in the literature so far. Clinically, it is a severe neurovisceral disease manifesting immediately after birth and following a rapidly progressive fatal course. The neurological signs and symptoms include hypotonia, massive myoclonic bursts, abnormal ocular movements and dystonia. Grand mal seizures and seizures triggered by tactile stimuli have been described. Patients also develop hepatosplenomegaly. Death usually occurs from respiratory failure following repeated pulmonary infections. The disease is caused by mutations in the PSAP gene (10q21) leading to absence or non-functionality of the prosaposin protein. The mode of inheritance is autosomal recessive.|SNOMEDCT_US|N|
C4303788|A form of Ehlers-Danlos syndrome (EDS) with characteristics of severe kyphoscoliosis in conjunction with sensorineural hearing impairment and normal urinary pyridinoline excretion.|SNOMEDCT_US|N|
C4303789|Ehlers-Danlos syndrome is a group of disorders that affect connective tissues supporting the skin, bones, blood vessels, and many other organs and tissues. Defects in connective tissues cause the signs and symptoms of these conditions, which range from mildly loose joints to life-threatening complications.\n\nThe various forms of Ehlers-Danlos syndrome have been classified in several different ways. Originally, 11 forms of Ehlers-Danlos syndrome were named using Roman numerals to indicate the types (type I, type II, and so on). In 1997, researchers proposed a simpler classification (the Villefranche nomenclature) that reduced the number of types to six and gave them descriptive names based on their major features. In 2017, the classification was updated to include rare forms of Ehlers-Danlos syndrome that were identified more recently. The 2017 classification describes 13 types of Ehlers-Danlos syndrome.\n\nMany people with the Ehlers-Danlos syndromes have soft, velvety skin that is highly stretchy (elastic) and fragile. Affected individuals tend to bruise easily, and some types of the condition also cause abnormal scarring. People with the classical form of Ehlers-Danlos syndrome experience wounds that split open with little bleeding and leave scars that widen over time to create characteristic "cigarette paper" scars. The dermatosparaxis type of the disorder is characterized by loose skin that sags and wrinkles, and extra (redundant) folds of skin may be present.\n\nAn unusually large range of joint movement (hypermobility) occurs in most forms of Ehlers-Danlos syndrome, and it is a hallmark feature of the hypermobile type. Infants and children with hypermobility often have weak muscle tone (hypotonia), which can delay the development of motor skills such as sitting, standing, and walking. The loose joints are unstable and prone to dislocation and chronic pain. In the arthrochalasia type of Ehlers-Danlos syndrome, infants have hypermobility and dislocations of both hips at birth.\n\nOther types of Ehlers-Danlos syndrome have additional signs and symptoms. The cardiac-valvular type causes severe problems with the valves that control the movement of blood through the heart. People with the kyphoscoliotic type experience severe curvature of the spine that worsens over time and can interfere with breathing by restricting lung expansion. A type of Ehlers-Danlos syndrome called brittle cornea syndrome is characterized by thinness of the clear covering of the eye (the cornea) and other eye abnormalities. The spondylodysplastic type features short stature and skeletal abnormalities such as abnormally curved (bowed) limbs. Abnormalities of muscles, including hypotonia and permanently bent joints (contractures), are among the characteristic signs of the musculocontractural and myopathic forms of Ehlers-Danlos syndrome. The periodontal type causes abnormalities of the teeth and gums.\n\nBleeding problems are common in the vascular type of Ehlers-Danlos syndrome and are caused by unpredictable tearing (rupture) of blood vessels and organs. These complications can lead to easy bruising, internal bleeding, a hole in the wall of the intestine (intestinal perforation), or stroke. During pregnancy, women with vascular Ehlers-Danlos syndrome may experience rupture of the uterus. Additional forms of Ehlers-Danlos syndrome that involve rupture of the blood vessels include the kyphoscoliotic, classical, and classical-like types.|MedlinePlus Genetics|N|
C4303792|A rare form of combined immunodeficiency with characteristics of microcephaly, growth retardation and T and B cell lymphopenia. Patients present in childhood with growth retardation, microcephaly, urogenital and bone malformations, dysmorphic features, including bird-like facial dysmorphism, and features of combined immunodeficiency. Some patients may also present with autoimmune cytopenia. This disease is caused by mutations in the NHEJ1 (or Cernunos) gene (2q35). The resulting defect of Cernunnos/XLF, a core protein of the non-homologous end-joining (NHEJ) pathway, affects the major mechanism of DNA double-strand break repair. Transmission is autosomal recessive.|SNOMEDCT_US|N|
C4303793|A rare syndrome with the association of congenital hypertrichosis in the anterior cervical region, peripheral sensory and motor neuropathy. It has been described in three members of the same family and in one unrelated boy. Associated features in the familial cases include retinal anomalies, spina bifida, kyphoscoliosis and hallux valgus, while that in the non-familial case includes developmental delay. An autosomal recessive mode of inheritance is suggested. There have been no further descriptions in the literature since 1993.|SNOMEDCT_US|N|
C4303808|A rare inflammatory bowel disease with characteristics of early cutaneous photosensitivity manifesting by sun-induced facial erythematous and vesicular lesions and severe recurrent colitis that leads to untreatable diarrhoea. There have been no further descriptions in the literature since 1991.|SNOMEDCT_US|N|
C4303809|A form of syndromic craniosynostosis with characteristics of craniosynostosis, mild facial dysmorphism (prominent supraorbital ridges, mild proptosis and maxillary hypoplasia) and calcification of the basal ganglia. The disease is associated with a favourable neurological outcome, normal intelligence and is inherited in an autosomal recessive manner.|SNOMEDCT_US|N|
C4303859|A poly-malformation syndrome with characteristics of craniosynostosis, Poland anomaly, cranio-fronto-nasal dysplasia and genital and breast anomalies. Less than ten cases have been described so far.|SNOMEDCT_US|N|
C4303860|A rare developmental disorder, that unifies the overlapping autosomal recessive disorders previously known as Carnevale, Mingarelli, Malpuech and Michels syndromes. The syndrome has characteristics of a spectrum of developmental anomalies that include distinctive facial dysmorphism, cleft lip and/or palate, craniosynostosis, learning disability, radioulnar synostosis and genital and vesicorenal anomalies. Less common features reported include anterior chamber defects, cardiac anomalies, caudal appendage, umbilical hernia/omphalocele and diastasis recti.|SNOMEDCT_US|N|
C4303861|A rare cranial malformation syndrome with characteristics of premature closure of both lambdoid sutures and the posterior sagittal suture resulting in abnormal skull contour and dysmorphic facial features. Short stature, developmental delay, epilepsy and oculomotor dyspraxia have also been reported. Associated anomalies include enlargement of the cerebral ventricles, agenesis of the corpus callosum, Arnold-Chiari malformation type I, venous anomalies of skull and hydrocephalus.|SNOMEDCT_US|N|
C4303862|This syndrome has characteristics of craniofacial dysplasia, cone-shaped physes of the hands and feet and neurological manifestations resembling cerebral palsy. It has been described in one family. The syndrome appeared to be transmitted as a dominant trait.|SNOMEDCT_US|N|
C4303863|A well-defined entity within the group of auto inflammatory disorders, it is a rare disease with 49 cases documented so far. It affects mainly young adults and is characterised by recurrent attacks of fever and deep abscess-like collections, most frequently localised in the abdomen. Aseptic abscesses may be either isolated or associated with an underlying condition such as relapsing polychondritis or inflammatory bowel disease. Antibiotics fail to cure the patients but dramatic improvements are seen with corticosteroids and immunosuppressive drugs.|SNOMEDCT_US|N|
C4303864|A multiple malformation syndrome with characteristics of atresia of the auditory canal together with ventricular septal defect, anteriorly displaced anus, mild clubfoot and intellectual deficit. It has been described only once, in two sisters.|SNOMEDCT_US|N|
C4303886|A card carried in order to alert others in an emergency situation that the card holder has diabetes.|SNOMEDCT_US|N|
C4303949|Central bilateral macrogyria (rolandic and perisylvian) is a neuronal migration disorder with characteristics of pseudobulbar palsy, developmental delay, mild intellectual disability and epilepsy. It has been described in at least four children.|SNOMEDCT_US|N|
C4303970|This syndrome has characteristics of non-compaction of the ventricular myocardium, bradycardia, pulmonary valve stenosis and secundum atrial septal defect. Laterality sequence anomalies are also present. So far, the syndrome has been described in nine members from three generations of the same family. Transmission is autosomal dominant and linkage to chromosome 6p24.3-21.2 was reported.|SNOMEDCT_US|N|
C4303971|Cap polyposis (CP) is characterised by multiple inflammatory polyps that predominantly affect the rectosigmoid area and manifest primarily as rectal bleeding with abnormal transit, constipation or diarrhoea. To date, around 67 cases have been described in the world literature. The aetiology of CP is still unclear but some causes such as lower colonic mucosal prolapse, mucosal ischaemia, inflammation, abnormal colonic motility, repeated trauma to the colonic mucosa caused by straining, infection and immune disorders have been proposed. CP is not a premalignant condition.|SNOMEDCT_US|N|
C4303980|Respiratory failure causing high level of carbon dioxide in the blood.|SNOMEDCT_US|N|
C4303989|A developmental anomaly with characteristics of brachytelephalangy, distinct craniofacial features (prominent square forehead, telecanthus, small nose, malar hypoplasia, smooth philtrum and thin upper lip), and relative to other family members, a short stature. These features may be associated with anosmia and hypogonadotropic hypogonadism (considered as Kallman syndrome). This anomaly has been described in a mother and her son and there have been no further descriptions in the literature since 1986.|SNOMEDCT_US|N|
C4303990|A recently described syndrome associating a brachydactyly type A4 (short middle phalanges of the second and fifth fingers and absence of middle phalanges of the second to fifth toes) and a syndactyly of the second and third toes. Metacarpals and metatarsals anomalies are common. This syndrome has been described in two families. It is caused by HOXD13 mutations in 2q31-q32. Inherited as an autosomal dominant trait.|SNOMEDCT_US|N|
C4303991|A form of brachydactyly that presents with the characteristic features of brachydactyly type A2 (shortening of the middle phalanges of the index finger and, sometimes, of the little finger) and type D (shortening of the distal phalanx of the thumb) plus various additional features. It has been reported in one family.|SNOMEDCT_US|N|
C4303992|A type of brachydactyly characterized by absent middle phalanges of digits 2 to 5.|HPO|N|
C4303993|Bone dysplasia Azouz type is a form of generalized enchondromatosis with involvement of the spine (so called spondyloenchondromatosis). Spondyloenchondromatosis is a very rare skeletal dysplasia characterized by severe platyspondyly, and mild involvement of hands and feet.|MONDO|N|
C4304021|This syndrome has characteristics of congenital thrombocytopenia associated with the presence of large platelets. To date less than 10 cases are reported. The syndrome is caused by mutations in the integrin, beta 3 ITGB3, tubulin, beta-1TUBB1 and actinin, alpha1 ACTN1 genes. These mutations lead to abnormal proplatelets and thrombocytopenia. Transmission is autosomal dominant.|SNOMEDCT_US|N|
C4304022|A very rare and atypical form of Chédiak-Higashi syndrome, a genetic disorder with characteristics of partial oculocutaneous albinism, severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. Missense mutations in the LYST lysosomal gene (1q42.1-q42.2) appear to cause this form of Chédiak-Higashi syndrome. Inherited in an autosomal recessive manner.|SNOMEDCT_US|N|
C4304023|This syndrome has characteristics of progressive ataxia beginning during childhood, deafness and intellectual deficit. It has been described in two families. The clinical picture is similar to that seen in Richards-Rundle syndrome.|SNOMEDCT_US|N|
C4304024|A rare association syndrome, reported in several members of two families to date with characteristics of arterial dissection, occurring at an early age and presenting with a range of manifestations depending on the vascular territory involved, in association with cystic medial necrosis and multiple lentigines.|SNOMEDCT_US|N|
C4304026|Syndrome with characteristics of moderate to profound hearing loss in both ears and severe nearsightedness (high myopia). The hearing loss may be described as sensorineural or it may be caused by auditory neuropathy. The hearing loss is either present at birth or begins in infancy, before the child learns to speak. This syndrome is caused by mutations in the SLITRK6 gene. The protein produced from this gene is found primarily in the inner ear and the eye. SLITRK6 gene mutations result in an abnormally short SLITRK6 protein that is not anchored properly to the cell membrane meaning the protein is unable to function normally. Impaired SLITRK6 protein function leads to abnormal nerve development in the inner ear and improperly controlled eyeball growth.|SNOMEDCT_US|N|
C4304030|This syndrome has characteristics of moderate intellectual deficit, brachycephaly, typical facies (thin lips and microstomia), ectomorphic habitus with extremely long, thin fingers and toes and hypoplastic external genitalia. It has been described in three patients.|SNOMEDCT_US|N|
C4304031|An extremely rare association syndrome, described in only two brothers to date (one of which died at 2 months of age), characterised by aplasia cutis congenita of the vertex and generalised oedema (as well as hypoproteinaemia and lymphopenia) due to intestinal lymphangiectasia. There have been no further descriptions in the literature since 1985.|SNOMEDCT_US|N|
C4304032|This syndrome has characteristics of the association of aplasia cutis congenita with high myopia, congenital nystagmus and cone-rod dysfunction. It has been described in two siblings (brother and sister). Transmission is autosomal dominant.|SNOMEDCT_US|N|
C4304033|An extremely rare malformation syndrome with characteristics of the association of partial distal aphalangia with syndactyly, duplication of metatarsal IV, microcephaly, and mild intellectual disability.|SNOMEDCT_US|N|
C4304034|An increase in anti-human leukocyte antigen (anti-HLA) mostly seen in chronic renal failure patients that have undergone haemodialysis and polytransfusion. Other factors leading to anti-HLA hyperimmunisation are renal transplantation and pregnancy. Anti-HLA hyperimmunisation is a major factor in acute graft rejection. It can be limited by administrating erythropoietin for the treatment of chronic renal failure related anaemia, which reduces the number of transfusions required.|SNOMEDCT_US|N|
C4304035|A multiple congenital anomalies syndrome reported in the offsprings of a consanguineous couple with characteristics of multiple congenital skeletal, muscular, ocular and cardiac abnormalities. An autosomal recessive inheritance with variable expressivity was suspected. There have been no further descriptions in the literature since 1992.|SNOMEDCT_US|N|
C4304036|The association of ankylosing vertebral hyperostosis with hyperkeratosis of the soles and palms. It has been described in at least eight patients, in four sibships spanning two generations of a Greek-Cypriot family. Six other members of the family presented with palmoplantar hyperkeratosis alone. This syndrome is likely to be transmitted as an autosomal dominant trait. It is distinct from diffuse idiopathic skeletal hyperostosis (DISH), which is not a rare disease.|SNOMEDCT_US|N|
C4304037|A rare variant of cutaneous lichen planus with characteristics of both annular and atrophic lichen planus features in the same lesion. Fewer than ten cases have been reported in the literature. Small violaceous papules develop on the trunk and extremities with an atrophic center and a raised hyperpigmented border. Patients are generally middle-aged and have no past history of cutaneous lesions. Histopathologically, the peripheral border has the typical features of lichen planus, while the centre of the lesion shows loss of rete ridges. There is loss of elastic fibers within the papillary dermis, both centrally and peripherally.|SNOMEDCT_US|N|
C4304054|A very rare non-syndromic autosomal recessive pyridoxine-refractory sideroblastic anemia due to a splice defect of glutaredoxin-5 (GLRX5) described in a single patient with adult onset microcytic hypochromic anemia with liver iron overload and type 2 diabetes.|SNOMEDCT_US|N|
C4304055|A type of arthrogryposis with characteristics of congenital cleft palate, microcephaly, craniostenosis and arthrogryposis. Additional features include facial dysmorphism. Velopharyngeal insufficiency with difficulties in swallowing, increased secretion of the nose and throat, prominent occiput, generalised muscular hypotonia with mild cyanosis and no spontaneous movements, seizures, torticollis, areflexia, intellectual disability, hypertrichosis of the lower extremities, and scleroedema are also observed. The disease often leads to early death. Transmission is autosomal recessive. No new cases have been described since 1983.|SNOMEDCT_US|N|
C4304057|A very rare mitochondrial respiratory chain deficiency described in fewer than 10 infants, primarily of middle Eastern descent, with clinical characteristics of transient but life-threatening liver failure with elevated liver enzymes, jaundice, vomiting, coagulopathy, hyperbilirubinaemia, and lactic acidaemia.|SNOMEDCT_US|N|
C4304058|The acute onset of bilateral iris depigmentation, pigment dispersion in the anterior chamber and heavy pigment deposition in the anterior chamber angle of the eye. Patients typically present with acute and usually severe photophobia, blurred vision, red eye and ocular discomfort or pain with a usually self-limiting clinical course. Cases often occur after a flu-like illness, upper respiratory tract infection, and after the use of oral moxifloxacin.|SNOMEDCT_US|N|
C4304094|Reported as a new type of acrofacial dysostosis due to the presence of manifestations not usually seen in Nager syndrome such as microcephaly, blepharophimosis, microtia, a peculiar beaked nose, cleft lip and palate, symmetrical involvement of the thumbs and great toes and developmental delay.|SNOMEDCT_US|N|
C4304106|A rare developmental defect with characteristics of an anomalous connection of trachea with left hepatic duct presenting with respiratory distress, recurrent respiratory infections and biliary expectoration or vomitus.|SNOMEDCT_US|N|
C4304146|The patient''s mother is a victim of domestic violence.|SNOMEDCT_US|N|
C4304196|A malformation disorder with characteristics of sagittal craniosynostosis, Dandy-Walker malformation, hydrocephalus, craniofacial dysmorphism (including dolichocephaly, hypertelorism, micrognathia, positional ear deformity) and variable developmental delay. The inheritance pattern appears to be autosomal dominant.|SNOMEDCT_US|N|
C4304260|Renal papillary necrosis in a patient with a long history of regular analgesic drug use.|SNOMEDCT_US|N|
C4304283|Circulatory collapse of obscure cause which occurs in surgical patients who are thought to have a normal blood volume but in whom adequate circulation cannot be maintained.|SNOMEDCT_US|N|
C4304293|An abnormal dark-yellow color of the urine.|HPO|N|
C4304301|A limb-girdle muscular dystrophy with characteristics of skeletal and cardiac myopathy with cardiac conduction defects and muscle cytoplasmic inclusions.|SNOMEDCT_US|N|
C4304304|A limb girdle muscular dystrophy caused by myotilin deficiency with characteristics of limb-girdle weakness in combination with dysarthria.|SNOMEDCT_US|N|
C4304307|This syndrome is characterized by the association of intractable diarrhea of infancy with choanal atresia. Short stature, a prominent and broad nasal bridge, micrognathia, single palmar creases, chronic corneal inflammation, cytopenia, and abnormal hair texture were also reported. So far, the syndrome has been described in three children from the same family. The absence of intellectual deficit and immune deficiency allow this syndrome to be distinguished from other forms of intractable diarrhea of infancy described previously.|SNOMEDCT_US|N|
C4304308|This syndrome is characterized by sleep apnea associated with glaucoma. It has been described in five members of a family (the mother and four of her children).|SNOMEDCT_US|N|
C4304315|This syndrome has characteristics of congenital absence of the teeth and sparse or absent hair. Taurodontia is also present in the majority of cases. The syndrome has been described in less than 15 patients from different families.|SNOMEDCT_US|N|
C4304344|The association of amelogenesis imperfecta and a microscopically typical hair dysplasia has been found in several members of a family in two generations. Transmission is X-linked.|SNOMEDCT_US|N|
C4304347|Timothy syndrome is a multi-system disorder with characteristics of cardiac, hand, facial and neurodevelopmental features that include QT prolongation, webbed fingers and toes, flattened nasal bridge, low-set ears, small upper jaw, thin upper lip, and characteristic features of autism or autistic spectrum disorders. Timothy syndrome is caused by mutations in the CACNA1C gene. It is inherited as autosomal dominant trait. Researchers have identified two forms of Timothy syndrome. Type 1, which is also known as the classic type, includes all of the characteristic features described above. Type 2, or the atypical type, causes a more severe form of long QT syndrome and a greater risk of arrhythmia and sudden death. Unlike the classic type, the atypical type does not appear to cause webbing of the fingers or toes.|SNOMEDCT_US|N|
C4304396|This syndrome is characterised by congenital intestinal atresia, umbilical cord ulceration and severe intrauterine haemorrhage. Around 15 cases have been described so far. The aetiology is unknown.|SNOMEDCT_US|N|
C4304397|A very rare malformation syndrome with characteristics of hypoplasia of ulna associated with hypoplastic to absent fourth and/or fifth digits, hypoplasia of fibula, short stature and facial dysmorphism.|SNOMEDCT_US|N|
C4304398|A very rare syndrome with characteristics of mesomelic shortness of the forearms, bilateral clubfeet, aplasia or hypoplasia of all nails and severe psychomotor retardation. It has been reported in two siblings. The family is suggestive of autosomal recessive inheritance. Prognosis is poor.|SNOMEDCT_US|N|
C4304399|This syndrome is characterised by hypokalaemic metabolic alkalosis secondary to a tubulopathy, hypomagnesaemia with hypermagnesuria, severe hypercalciuria and dilated cardiomyopathy. It has been described in two patients, a father and his daughter. The condition shows some similarities to the Gitelman and Bartter syndromes. The mode of transmission appears to be autosomal dominant.|SNOMEDCT_US|N|
C4304400|This syndrome has characteristics of axonal sensory and autonomic neuropathy with hearing loss. It has been described in a large five-generation Chinese family. Onset occurred in the second decade of life with mild to severe hearing impairment due to degeneration of the auditory nerve, followed by late-onset of a diffuse and progressive peripheral sensory neuropathy. The causative gene was mapped to the AUNX1 locus on chromosome Xq23-27.3. Transmission was X-linked recessive.|SNOMEDCT_US|N|
C4304401|A rare genetic bone disorder with characteristics of chondrodysplasia, intrauterine growth retardation, hydrocephaly and facial dysmorphism in the affected males. The disease is severe and probably lethal in males, the clinical picture in females is less severe. The disease is due to a mutation in the histone deacetylase 6 HDAC6 gene (Xp11.3-q13.1) that causes a nucleotide substitution in the 3'' untranslated region (UTR) of the HDAC6 transcript. This mutation lies in the seed sequence of microRNA-433 (hsa-miR-433) and abolishes the post-transcriptional regulation of HDAC6 expression by hsa-miR-433, resulting in the overexpression of the HDAC6 protein. Inheritance is X-linked dominant.|SNOMEDCT_US|N|
C4304402|This syndrome has characteristics of facial dysmorphology, neuropathic visceral dysmotility, neurogenic megacystis, intracerebral calcifications and developmental delay. It has been described in two siblings (brother and sister) born to consanguineous parents. The girl also had microcephaly and multicystic kidneys. The boy had a more extensive neuropathic visceral disorder, leading clinically to chronic intestinal pseudo-obstruction syndrome.|SNOMEDCT_US|N|
C4304406|This syndrome has characteristics of intellectual deficit affecting both sexes, macrocephaly, and macroorchidism in the majority of affected males. It has been described in 12 individuals from two generations of one family. Other males from this family did not display intellectual deficit but did present macroorchidism and macrocephaly. Transmission is X-linked and the causative gene has been located to the q12-q21 region of the X chromosome.|SNOMEDCT_US|N|
C4304407|This syndrome is characterized by severe intellectual deficit, acromegaly and hyperactivity. The syndrome has been described in two half-brothers. Dysarthria, aggressive behavior, a characteristic facies (an acromegalic and triangular face with a long nose) and macroorchidism were also present. The mother displayed moderate intellectual deficit and milder facial anomalies. Central nervous system anomalies were identified in the two boys: subarachnoid cysts and hyperdensity in the pontine region.|SNOMEDCT_US|N|
C4304408|This syndrome has characteristics of cardiac arrhythmias (ventricular extrasystoles manifesting as bigeminy or multifocal tachycardia with syncopal episodes), perodactyly (hypoplasia and/or agenesis of the distal phalanges of the toes) and Pierre-Robin sequence. It has initially been reported in six patients from three generations of one family. Four affected members of another family manifesting a similar constellation of clinical features have recently been reported. An additional feature may be an antimongoloid slant of the palpebral fissures.|SNOMEDCT_US|N|
C4304411|Syndrome complex that has characteristics of the cutaneous features of xeroderma pigmentosum together with the systemic and neurological features of Cockayne syndrome. Less than 30 cases have been described to date. The disease manifests during infancy. Patients present with cutaneous UV-sensitive lesions that generally develop into skin cancer and also develop characteristic Cockayne syndrome manifestations such as microcephaly, hydrocephalus, cachexia, premature ageing, dwarfism, skin atrophy, arteriosclerosis, progressive hearing loss, cognitive deficit, spasticity, ataxia, pigmentary retinopathy and optic atrophy. Affected individuals have mutations in one of three XP genes: ERCC3 (2q21), ERCC2 (19q13.3), or ERCC5 (13q22-q34). Transmission is autosomal recessive.|SNOMEDCT_US|N|
C4304413|Describes a rare group of immunodeficiencies due to specific mutations in the inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma (IKBKG) or the cytochrome b-245, beta polypeptide (CYBB) genes. The clinical manifestation is mycobacterial infections occurring in males. Diagnosis is made by laboratory analysis. Low levels of IFN-gamma and IL-12 production by the patients'' mononuclear cells upon phytohaemagglutinin (PHA) are detected in those with an IKBKG mutation. In addition, an impaired IL-12 production by monocytes upon PHA stimulation by activated T cells is shown. Impaired NADPH activity is demonstrated in vitro in macrophages and B-cell lines in those with a CYBB mutation. A mutational analysis is necessary to identify the exact causative genes involved allowing for the implementation of a specific treatment plan.|SNOMEDCT_US|N|
C4304428|Drugs for dementia can be initiated by a specialist but continued to be prescribed by a general practitioner/primary care physician under a shared care prescribing arrangement.|SNOMEDCT_US|N|
C4304442|Supports use of dictaphone to capture information given in a consultation. Required when information that is important from the healthcare professional that is usually given in written format cannot be provided in this manner and is required to be recorded by the healthcare professional onto a personal audio recording device.|SNOMEDCT_US|N|
C4304499|A skeletal dysplasia with characteristics of epiphyseal dysplasia (usually mild) associated with progressive myopia, retinal thinning, crenated cataracts, conductive deafness and stubby digits. It has been described in one family in which the mother and three of her four children were affected. The condition is caused by a mutation in the COL2A1 gene (12q13.11-q13.2) and is transmitted in an autosomal dominant manner.|SNOMEDCT_US|N|
C4304500|A skeletal dysplasia with characteristics of multiple epiphyseal dysplasia, macrocephaly and facial dysmorphism. It has been described in 4 children from one Omani family. Dysmorphic features consist of macrocephaly with frontal bossing, hypertelorism, flat malar region, low-set ears and short neck. The disease gene has been mapped to the telomeric region of the long arm of chromosome 15. The condition is transmitted in an autosomal recessive manner.|SNOMEDCT_US|N|
C4304501|A very rare syndrome with the association of gingival fibromatosis and craniofacial dysmorphism. It has been described in two siblings. Craniofacial dysmorphism consists of relative macrocephaly, bushy eyebrows with synophrys, hypertelorism, downslanting palpebral fissures, flattened nasal bridge and high arched palate. The patients have normal intellect.The condition seems to be hereditary, transmitted as an autosomal recessive trait.|SNOMEDCT_US|N|
C4304503|An exceedingly rare autosomal recessive immune disease with characteristics of thumb aplasia, short stature with skeletal abnormalities and combined immunodeficiency described in three sibships from two possibly related families. The skeletal abnormalities included unfused olecranon and the immunodeficiency manifested with severe chickenpox and chronic candidiasis. No new cases have been reported since 1978.|SNOMEDCT_US|N|
C4304504|Syndrome associated with unusual and characteristic multi-organ clinical features, which include hearing loss, congenital heart defects, intellectual disability, hypotonia in infancy and Duane anomaly. It has been described in two patients. The lack of recurrent breakpoints in these two cases and the absence of any low-copy repeats pairs that flank these de novo events do not support non-allelic homologous recombination as the mutation mechanism. The 8q12 region includes CHD7 and it is proposed that this gene, associated with CHARGE syndrome by haploinsufficiency, causes a different phenotype by gain-of-dosage.|SNOMEDCT_US|N|
C4304505|A contiguous gene syndrome with characteristics of the association of congenital spherocytosis, dysmorphic features, growth delay and hypogonadotropic hypogonadism. It has been described in 8 patients to date. Common dysmorphic features include micrognathia, microcephaly, preauricular pits, high-arched palate and abnormal ears. All patients except one have intellectual deficit. The syndrome is caused by deletions of the proximal part of the short arm of chromosome 8 (8p11.1 to 8p21). The deletions can be cytogenetically detected and their size is variable. The loss of the ankyrin-1 gene (ANK1) results in congenital spherocytosis.|SNOMEDCT_US|N|
C4304514|Syndrome marked by a characteristic facial dysmorphism, short neck and psychomotor retardation, generally associated with a range of non-specific malformations. Isolated terminal 6q deletion syndrome is very rare with less than 20 cases being reported in the literature. The most frequent craniofacial anomalies include microcephaly, broad nose with prominent nasal root and bulbous nasal tip, large ears that may be malformed and low-set and a characteristic downturned mouth. The most commonly described neurological features are psychomotor retardation, hypotonia and seizures. Retinal anomalies are also common. The breakpoints are located between chromosome regions 6q25.3 and 6q26, within the fragile site FRA6E.|SNOMEDCT_US|N|
C4304526|The newly described syndrome is associated with microcephaly, short stature, developmental delay and delayed bone maturation. It has been reported in two unrelated patients. There is no remarkable facial dysmorphism. The clinical picture is opposite to that of patients with Sotos syndrome. The breakpoints of the duplication in both patients map to the proximal and distal low-copy repeats which flank the Sotos critical region. These findings support a non-allelic homologous recombination as the mechanism of duplication, and a dosage effect of the Sotos gene NSD1 (5q35).|SNOMEDCT_US|N|
C4304527|A recently described syndrome with characteristics of developmental delay, facial dysmorphism and hearing loss. It has been diagnosed in 4 patients. All of them presented with microcephaly, developmental delay, dysmorphic features and hearing loss, two of them had agenesis of the corpus callosum. Dysmorphic features include midface hypoplasia, hypertelorism, broad nasal root and posteriorly rotated ears.This syndrome is caused by an interstitial deletion encompassing 6q25.2-q25.3. These de novo deletions have a variable size with the smallest region of overlap of 3.52 Mb.|SNOMEDCT_US|N|
C4304528|A newly described syndrome associated with a variable clinical phenotype including developmental delay, facial dysmorphism, short neck and diverse malformations. Eight cases have been reported to date. The most common facial features include eye anomalies: strabismus, deeply set eyes, and epicanthic folds and ear anomalies such as over-folded helices and low-set ears. Reported patients have deletions of variable size. The critical region for the 6p22 deletion phenotype is 2.2 Mb and encompasses 12 genes; their function is still largely unknown.|SNOMEDCT_US|N|
C4304529|The newly described syndrome includes severe intellectual deficit with no speech, stereotypic movements and epilepsy. To date, fourteen patients have been reported. Miscellaneous dysmorphic facial features are present in all cases, but some common features are noticed, high and wide forehead, pronounced eyebrows, anteverted nostrils, short and prominent philtrum, down-turned corners of the mouth and small chin. Stereotypic movements and poor eye contact are present in many patients, suggesting the diagnosis of autism spectrum disorder. The size of deletions varies, the minimal common deleted region encompasses only MEF2C, suggesting that haploinsufficiency of MEF2C is responsible for the phenotype.|SNOMEDCT_US|N|
C4304530|A newly described syndrome associated with facial dysmorphism, progressive growth restriction, severe intellectual deficit and absent or severely delayed speech. It has been reported in nine unrelated patients. The most common facial feature includes high or broad forehead, hypertelorism and short philtrum. Short hands and feet are frequently observed. The microdeletion critical region encompasses two candidate genes, PRKG2 and RASGEF1B, in which haploinsufficiency could participate to the phenotype.|SNOMEDCT_US|N|
C4304531|A recently described syndrome with characteristics of a variable phenotype involving moderate to severe intellectual deficit, significant speech delay, persistent feeding difficulties, growth retardation and dysmorphic features. It has been described in fewer than 25 patients to date. Facial features include downslanting palpebral fissures, low-set ears and prominent nasal bridge. Most patients also have a high-arched palate or cleft palate. Some individuals have an ectodermal dysplasia-like phenotype, with thin, transparent skin and abnormalities of the hair and teeth. The size of the deletions is variable from 35 kb to 10.4 Mb. Haploinsufficiency of SATB2 is responsible for several of the clinical features.|SNOMEDCT_US|N|
C4304532|The newly described syndrome includes severe intellectual deficit with pronounced speech delay, behavioural abnormalities including hyperactivity and inappropriate laughter, short stature and seizures. To date, fifteen patients have been reported. Dysmorphic features include microcephaly, wide and open mouth, a tented upper lip, and prominent incisors. The majority of cases present with stereotypic repetitive behaviour, disturbed sleep pattern and a broad-based gait. Skeletal abnormalities include generalised brachydactyly with small hands and feet. The size of the deletions is variable the critical region includes a single gene, MBD5.|SNOMEDCT_US|N|
C4304537|The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growth and developmental delay, facial dysmorphism, and lactic acidemia. It has been described in seven patients from three families of a small Bedouin clan. Dysmorphic features include frontal bossing, almond-shaped eyes, long eyelashes, depressed nasal bridge, and large, posteriorly rotated ears. Renal lithiasis occurs at an early age in all patients. Reduced activity of the respiratory chain complexes I, III, IV and V was found in patients examined. The syndrome is caused by homozygous deletion of at least four contiguous genes on chromosome 2: SLC3A1, PREPL, PPM1B and C2orf34 (2p21).|SNOMEDCT_US|N|
C4304538|A recently described syndrome with characteristics of developmental delay and facial dysmorphism. Dysmorphic features include receding forehead, telecanthus, epicanthic fold, short and down-slanting palpebral fissures, ptosis, broad and high nasal bridge, retrognathia, flat philtrum, small mouth with high, narrow palate and everted lower lip. This syndrome is caused by an interstitial deletion 2p15p16.1 (present in mosaic in one patient). These de novo deletions have a variable size from 570 kb to 5.7 Mb and encompass several genes. Haploinsufficiency of these genes could contribute to the phenotype.|SNOMEDCT_US|N|
C4304539|A recently described syndrome with characteristics of Wolff-Parkinson-White syndrome, variable developmental delay and facial dysmorphism. Dysmorphic features include macrocephaly, hypertelorism, down-slanting palpebral fissures and microstomia. This syndrome is caused by an interstitial deletion encompassing 20p12.3. All these deletions except one occurred de novo and have a variable size with the smallest region of overlap including only one gene, BMP2, which is a good candidate gene for explaining the phenotype of Wolff-Parkinson-White syndrome.|SNOMEDCT_US|N|
C4304540|A newly described syndrome associated with facial dysmorphism, developmental delay, in particular of expressive speech, seizures and hypotonia. It has been reported in four unrelated patients. The most common facial features include microcephaly, hypertelorism and thin upper lip. An abnormal corpus callosum (agenesis, hypogenesis or slightly reduced thickness) is observed in all affected patients.|SNOMEDCT_US|N|
C4304577|The 19q13.11 microdeletion has characteristics of several major features including pre and postnatal growth retardation, slender habitus, severe postnatal feeding difficulties, microcephaly, intellectual deficit with speech disturbance, hypospadias and ectodermal dysplasia presented by scalp aplasia, thin and sparse hair, eyebrows and eyelashes, thin and dry skin and dysplastic nails. To date, the syndrome has been identified in five patients. Haploinsufficiency of one or more genes in the 19q13.11 region could cause this microdeletion syndrome.|SNOMEDCT_US|N|
C4304578|An extremely rare chromosomal anomaly with characteristics of severe speech and language delay, intellectual deficiency, autism spectrum disorder. Less than 10 cases have been reported to date. The syndrome is caused by a hemizygous interstitial microdeletion on the short arm of chromosome 1, occurring mostly de novo, that implicates DPYD (dihydropyrimidine dehydrogenase) and MIR137 genes associated with miRNA pathways.|SNOMEDCT_US|N|
C4304579|A newly described syndrome characterised by moderate to severe developmental delay, language delay, bilateral sensorineural and/or conductive hearing loss and facial dysmorphism. It has been reported in 6 patients to date. Facial dysmorphism includes brachycephaly, anteverted nares and ear malformations. Cardiac defects and abnormal behaviour characterised by auto and hetero-aggressivity and hyperactivity can be observed. This interstitial microdeletion was identified by comparative genomic hybridisation microarray and its size is variable.|SNOMEDCT_US|N|
C4304581|This syndrome has characteristics of neonatal blisters, milia and congenital absence of dermatoglyphics on the hands and feet. It has been reported in two kindreds (one of which contained 13 affected individuals spanning three generations) and in an unrelated individual. Some affected patients also showed bilateral partial flexion contractures of the fingers and toes, and webbing of the toes. The syndrome is inherited as an autosomal dominant trait.|SNOMEDCT_US|N|
C4304591|A recently described syndrome with characteristics of developmental delay, microcephaly, short stature, heart defects and limb abnormalities. The syndrome is caused by an interstitial deletion encompassing 17q23.1q23.2. The underlying mechanism is non-allelic homologous recombination. Parental FISH testing in five of the seven cases confirmed a de novo origin. The minimal deletion region of 2.2 Mb encompasses 2 transcription factors, TBX2 and TBX4, which are good candidate genes for explaining the phenotype.|SNOMEDCT_US|N|
C4304594|A recently described syndrome associated with variable developmental delay, facial dysmorphism, seizures and autistic spectrum disorder. This syndrome is caused by an interstitial deletion encompassing 16q24.3. They vary in size the common region of overlap is only 90 kb and comprises two candidates genes, ANKRD11 (Ankyrin Repeat Domain 11) and ZNF778 (Zinc Finger 778).|SNOMEDCT_US|N|
C4304595|A recently described syndrome associated with variable clinical features including behavioural abnormalities, developmental delay, congenital heart defects and skeletal anomalies. This syndrome is caused by interstitial duplications encompassing 16p13.11. The size of the rearrangements is variable. The underlying mechanism is non-allelic homologous recombination. The microduplications appear de novo or are inherited from mildly affected or completely normal parents, suggesting that the microduplication has incomplete penetrance and variable expressivity. As the duplication is present in phenotypically normal parents of patients, as well as in the general population, the clinical significance of the 16p13.11 microduplication is still unclear.|SNOMEDCT_US|N|
C4304596|A recently described syndrome characterised by developmental delay, microcephaly, epilepsy, short stature, facial dysmorphism and behavioural problems. Facial features include down-slanting palpebral fissures, short nose, low-set ears, wide mouth and thin upper lip. Variable congenital anomalies can also be observed. This syndrome is caused by an interstitial deletion encompassing 16p13.11. The underlying mechanism is non-allelic homologous recombination. Microdeletions appear de novo or are inherited from mildly affected or completely normal parents in an autosomal dominant manner, suggesting that the microdeletion has incomplete penetrance and variable expressivity.|SNOMEDCT_US|N|
C4304597|A recently described syndrome with characteristics of developmental delay and facial dysmorphism. Facial features include flat facies, downslanting palpebral fissures, low-set and malformed ears. Orofacial clefting, heart defects, short stature, feeding difficulties and hypotonia can be observed. This syndrome is caused by an interstitial deletion encompassing 16p11.2-p12.2. These deletions arise de novo and are flanked by segmental duplications suggesting that the underlying mechanism is non-allelic homologous recombination.|SNOMEDCT_US|N|
C4304607|A sighted guide is a person that escorts a visually impaired individual and assists them with for example reading of signs.|SNOMEDCT_US|N|
C4304641|This syndrome has characteristics of variable psychomotor delay and dysmorphic features. It has been recently described in less than ten patients. Clinical presentation is variable but it is possible to delineate a common clinical spectrum comprising mild to moderate psychomotor delay, hypotonia and discrete craniofacial dysmorphic features including a high forehead with frontal bossing, a small nose and a small mouth. The microduplication encompasses the same region that is deleted in Miller-Dieker (17p13 deletion) syndrome. The variable size of this de novo duplication indicates that mechanisms other than nonallelic homologous recombination may be responsible.|SNOMEDCT_US|N|
C4304668|Benign exophthalmos syndrome is characterized by slowly progressive unilateral exophthalmos and ipsilateral mucosal turbinate hypertrophy, without intraorbital or intranasal lesions.|MONDO|N|
C4304669|Palmoplantar keratoderma and congenital alopecia-1 (PPKCA1) is a rare autosomal dominant disorder characterized by severe hyperkeratosis and congenital alopecia. Nail changes occur in some patients (summary by Castori et al., 2010).
Also see PPKCA2 (212360), an autosomal recessive disorder characterized by congenital alopecia and progressive hyperkeratosis resulting in sclerodactyly, severe contractures and tapering of the digits, and pseudoainhum formation.|OMIM|N|
C4304670|DYT-GNAL caused by a heterozygous GNAL pathogenic variant has been reported in more than 60 individuals to date. It is characterized by adult-onset isolated dystonia (i.e., no neurologic abnormalities other than tremor are evident on neurologic examination). The dystonia is most commonly focal and segmental, and rarely generalized. Dystonia is typically cervical in onset and commonly progresses to the cranial region (oromandibular/jaw, larynx, eyelids) and/or to one arm. Tremor reported in DYT-GNAL may be dystonic (i.e., occurring in a body part that shows at least minimal signs of dystonia) and may precede or follow the onset of dystonia. Intra- and interfamilial variability is considerable. DYT-GNAL caused by biallelic GNAL pathogenic variants, reported to date in two sibs from a consanguineous family, is characterized by mild intellectual disability and childhood-onset hypertonia that progresses to generalized dystonia.|GeneReviews|N|
C4304672|A form of axonal Charcot-Marie-Tooth disease, a peripheral motor and sensory neuropathy with characteristics of congenital pstosis and early cataract. Associated with a mildly progressive peripheral neuropathy of variable onset from birth to the sixth decade, pes cavus, reduced to absent ankle tendon reflexes and sometimes neutropenia.|SNOMEDCT_US|N|
C4304673|A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. In the single family reported to date, onset is between 15 and 33 years. Patients present with a symmetric distal weakness of legs and occasionally of the hands, absent or reduced tendon reflexes, distal legs sensory loss and frequently a pes cavus. Progression is slow.|SNOMEDCT_US|N|
C4304688|Decline of physiological, mental or physical functional process applied to any age range and any baseline status.|SNOMEDCT_US|N|
C4304704|A multiple congenital anomalies syndrome described in a father and son with the association of cleft palate, peculiar facies (asymmetrical appearance, inner epicanthal folds, short nose, anteverted nostrils, low and back-oriented ears, thin upper lip and micrognathism), short stature, short neck , vertebral anomalies and intellectual disability. The transmission is presumed to be autosomal dominant. There have been no further descriptions in the literature since 1993.|SNOMEDCT_US|N|
C4304715|A severe anomaly of bile acid synthesis with manifestation of severe neonatal cholestatic liver disease. To date, only 2 cases of this disorder have been reported. Caused by mutations in the 7-alpha hydroxylase gene (CYP7B1, 8q21.3). The deficiency in oxysterol 7-alpha-hydroxylation leads to the accumulation of hepatotoxic unsaturated monohydroxy bile acids. The mode of transmission is presumed to be autosomal recessive.|SNOMEDCT_US|N|
C4304716|A rare developmental defect with characteristics of an anomalous connection of bronchus with left hepatic duct presenting with respiratory distress, recurrent respiratory infections and biliary expectoration or vomitus.|SNOMEDCT_US|N|
C4304724|A subtype of junctional epidermolysis bullosa the condition occurs in childhood or young adulthood. 22 patients in 12 families have been reported to date. Blistering occurs at first around nails, accompanied by nail dystrophy and shedding, and then affects the hands and feet and, to a lesser extent, the elbows, knees, along with atrophic scarring. Other manifestations include disappearance of dermatoglyphs and palmoplantar hyperhidrosis. Extracutaneous involvement is restricted to soft tissue abnormalities of the oral cavity and enamel defects with development of caries. COL17A1 mutations have recently been described in an affected family. The condition follows an autosomal recessive pattern of inheritance.|SNOMEDCT_US|N|
C4304725|Leber plus disease describes patients with the clinical features of Leber''s hereditary optic neuropathy in combination with other serious systemic or neurological abnormalities. These abnormalities include: postural tremor, motor disorder, multiple sclerosis-like syndrome, spinal cord disease, skeletal changes, Parkinsonism with dystonia, anarthria, dystonia, motor and sensory peripheral neuropathy, spasticity and mild encephalopathy. It is caused by maternally inherited mitochondrial DNA (mtDNA) mutations.|SNOMEDCT_US|N|
C4304727|Sudden unexpected death in epilepsy (SUDEP) is a sudden, unexpected, witnessed or unwitnessed, non-traumatic and non-drowning death, occurring in benign circumstances, in an individual with epilepsy, with or without evidence for a seizure and excluding documented status epilepticus, in which postmortem examination has not revealed a cause of death.|HPO|N|
C4304738|Syndrome with characteristics of cleft soft palate, severe oligodontia of the deciduous teeth, absence of the permanent dentition, bilateral conductive deafness due to fixation of the footplate of the stapes, short halluces with a wide space between the first and second toes, and fusion of carpal and tarsal bones. It has been described in two sisters of Swedish extraction. An autosomal recessive mode of inheritance is likely. There have been no further descriptions in the literature since 1971.|SNOMEDCT_US|N|
C4304743|The association of leucoencephalopathy and metaphyseal chondrodysplasia has been reported in four men from a three-generation family. Onset manifests by spastic paraplegia at the age of 2, followed by tremor, ataxia, optic atrophy, and spastic tetraparesis. Transmission is X-linked and the gene responsible of the disease may be located at Xq25-q27.|SNOMEDCT_US|N|
C4304744|This disease is a non-progressive neurological disorder marked by intellectual deficit, spasticity and motor retardation associated with characteristic MRI findings of anterior bilateral temporal lobe cysts and multilobar leucoencephalopathy. So far, around 30 cases have been reported in the literature. Onset occurs in the first few months of life. Sensorineural deafness and microcephaly have also been reported.|SNOMEDCT_US|N|
C4304745|An extremely rare lethal form of chondrodysplasia with characteristics of severe micromelic dwarfism, short and incurved limbs with normal hands and feet, facial dysmorphism (disproportionately large skull, frontal prominence, slightly flattened nasal bridge and short neck), muscular hypotonia, hyperlaxity of the extremities, and a narrow thorax. Most patients die of respiratory distress during the first hours or weeks of life. There have been no further descriptions in the literature since 1988.|SNOMEDCT_US|N|
C4304746|Waters-West syndrome is characterised by the association of lethal non-spherocytic, non-immune haemolytic anaemia with abnormalities of the external genitalia (micropenis and hypospadias), flat occiput, dimpled earlobes, deep plantar creases, and increased space between the first and second toes. It has been described only once in two brothers who died a few hours after birth. The second-born infant had massive ascites and hepatosplenomegaly. The mother had two spontaneous abortions but gave birth to a normal girl, suggesting an autosomal or X-linked recessive mode of inheritance.|SNOMEDCT_US|N|
C4304748|An extremely rare arthrogryposis syndrome, described in only two pairs of siblings from two unrelated families to date with the association of arthrogryposis, congenital torticollis, dysmorphic facial features (i.e. asymmetry of the face, myopathic facial movements, ptosis, posteriorly rotated ears, cleft palate), progressive scoliosis and episodes of malignant hyperthermia. There have been no further descriptions in the literature since 1988.|SNOMEDCT_US|N|
C4304819|The syndrome is characterised by generalised multiple steatocystoma and natal teeth. It has been described in a five-generation Chinese family with at least 21 affected patients. The same condition has been reported in one additional sporadic case. Autosomal dominant inheritance has been suggested.|SNOMEDCT_US|N|
C4304823|This syndrome is characterized by white plaque-like lesions involving the macula but sparing the peripapillary areas of both eyes. It has been described in five patients. In contrast to patients with macular serpiginous choroiditis presenting with similar lesions, the five patients reported so far had good visual acuity until the onset of choroidal neovascularization or pigmentary mottling. The macular lesions fade after several months or years, but the vascular anomalies persist leading to a loss of central vision.|SNOMEDCT_US|N|
C4304829|An X-linked ciliary dysfunction disorder of both the respiratory epithelium and photoreceptors of the retina. This leads to ocular problems including mild night blindness, constriction of the visual field and scotopic and photopic ERG responses reduced to 30-60%. It is also associated with primary ciliary dyskinesia manifestations including chronic bronchorrhea with bronchoectasis and chronic sinusitis along with sensorineural hearing loss.|SNOMEDCT_US|N|
C4304831|An extremely rare disorder described in one family to date that has characteristics of progressive, late onset, autosomal dominant sensorineural hearing loss, QT interval prolongation and mild cardiac hypertrophy.|SNOMEDCT_US|N|
C4304832|Primary pigmented nodular adrenocortical disease (PPNAD) is a form of bilateral adrenocortical hyperplasia that is often associated with adrenocorticotrophin hormone independent Cushing syndrome. The disease has characteristics of small to normal sized adrenal glands containing multiple small cortical pigmented nodules. A substantial proportion of patients present during early childhood (2-3 years). More than 90% of reported cases of PPNAD occur as one of the manifestations of Carney complex. The condition is inherited in an autosomal dominant manner and can be associated with mutations in the PRKAR1A, PDE11A and PDE8B genes.|SNOMEDCT_US|N|
C4304839|Progressive non-infectious anterior vertebral fusion (PAVF) is an early childhood spinal disorder with characteristics of the gradual onset of thoracic and/or lumbar spine ankylosis often in conjunction with kyphosis with distinctive radiological features. Prevalence is unknown, but PAVF (mostly isolated cases) has been reported in approximately 80-100 cases. Neurological abnormalities are exceptional. PAVF can occur isolated or less frequently, as part of a syndrome. Syndrome associated manifestations include facial dysmorphism, absence of one cervical vertebrae, radio-ulnar synostosis, exostosis.|SNOMEDCT_US|N|
C4304840|Progressive cavitating leucoencephalopathy has characteristics of acute episodes of neurological deficit (ataxia, dysarthria, seizures) with irritability and opisthotonus followed by either steady deterioration or alternating periods of rapid progression and prolonged periods of stability. So far around 20 patients have been reported in the literature. Onset occurs in infancy or early childhood. The mode of transmission is autosomal recessive.|SNOMEDCT_US|N|
C4304887|This syndrome has manifestations of the association of spondylometaphyseal dysplasia (marked by platyspondyly, shortening of the tubular bones and progressive metaphyseal irregularity and cupping), with postnatal growth retardation and progressive visual impairment due to cone-rod dystrophy. So far, it has been described in eight individuals. Transmission appears to be autosomal recessive.|SNOMEDCT_US|N|
C4304888|Disease with characteristics of short trunk dwarfism, progressive involvement of the spine and epiphyses and mild-to-moderate intellectual deficit.The syndrome has been described in three daughters born to healthy consanguineous parents. The skeletal disorder usually manifests in late childhood. Typical radiographic features include platyspondyly, abnormal lumbar vertebrae and degenerative large joint changes. Autosomal recessive transmission has been suggested.|SNOMEDCT_US|N|
C4304896|Hair that can be removed without resistance.|SNOMEDCT_US|N|
C4304914|Symmetrical thalamic calcifications are clinically distinguished by a low Apgar score, spasticity or marked hypotonia, weak or absent cry, poor feeding and facial diplegia or weakness. It is an extremely rare condition, with about 30 cases described in the literature. The calcifications are revealed by computed tomography scanning. The prognosis is very poor.|SNOMEDCT_US|N|
C4304915|This syndrome is characterised by mild to severe intellectual deficit associated with variable clinical manifestations including spasticity, cryptorchidism, maxillary hypoplasia, alopecia areata, epilepsy, short stature, impaired speech and behavioural problems. To date, it has been described in less than 15 families. Transmission is X-linked recessive and the syndrome is caused by mutations in the JARID1C (SMCX) gene encoding a JmjC-domain protein with histone demethylase activity.|SNOMEDCT_US|N|
C4304917|This syndrome has characteristics of intellectual deficit, epilepsy, facial dysmorphism and progressive joint contractures. It has been described in two boys. Hypotonia and feeding problems at birth were also reported. The mode of transmission is X-linked.|SNOMEDCT_US|N|
C4304918|This syndrome is characterized by severe intellectual deficit, hypotonia, mild facial dysmorphism and aggressive behavior. It has been described in 10 male members spanning four generations of one family. The facial dysmorphism includes a high forehead, prominent ears, and a small pointed chin. Height and head circumference are reduced. This disorder is transmitted as an X-linked recessive trait and the causative gene maps to Xp22.|SNOMEDCT_US|N|
C4304919|This syndrome is characterised by moderate intellectual deficit, bilateral single palmar creases, seizures, variable hypogammaglobulinaemia and characteristic features (synophrys, prognathism, and hirsutism). It has been reported in three males from two generations of one family. All underwent progressive neurological deterioration.This syndrome is transmitted as an X-linked trait, and the causative gene is located between Xq21.33 and Xq23.|SNOMEDCT_US|N|
C4304934|This syndrome has characteristics of intellectual deficit associated with facial dysmorphism, patella luxation and abnormal growth of the teeth. It has been described in eight males from multiple generations of one family. The locus for the causative gene for this syndrome has been located to the region between p11.22 and p21.1 on the X chromosome.|SNOMEDCT_US|N|
C4304935|This syndrome has characteristics of moderate intellectual deficit, marked cubitus valgus, mild microcephaly, a short philtrum, deep-set eyes, downslanting palpebral fissures and multiple naevi. Less than ten individuals have been described so far. Transmission is thought to be X-linked recessive.|SNOMEDCT_US|N|
C4304936|X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome is characterized by intellectual and motor deficit, spastic quadriparesis and agenesis of the corpus callosum, without craniofacial abnormalities or seizures. It has been described in four male members of a family. The mode of inheritance is most likely X-linked recessive.|MONDO|N|
C4304937|A rare syndromic form of cerebellar dysgenesis with characteristics of moderate to severe intellectual deficit and cerebellar abnormalities. OPHN1 syndrome is very rare. To date, up to 12 families have been reported. Affected male patients present moderate to severe intellectual disability, hypotonia, severe developmental delay, early-onset complex partial or tonic-clonic seizures, strabismus, dysmetria and occasionally ataxia. Cryptorchidism and genital hypoplasia have been reported. Various mutations including deletions and splice site mutations in the OPHN1 gene (Xq12) have been reported in patients with this syndrome. Transmission appears to follow an X-linked semi-dominant pattern.|SNOMEDCT_US|N|
C4304962|A rare genetic skin disorder with characteristics of congenital alopecia and palmoplantar hyperkeratosis. It is usually associated with cataracts, progressive sclerodactyly and pseudo-ainhum. To date the syndrome has been reported in two families (seven affected individuals) plus an additional sporadic patient was likely affected by the same condition. Usually presents during infancy with manifestations of fading of facial, scalp and body hair within the first months of life without subsequent re-growth. Body and facial keratosis pilaris are additional features that appear in the following years. Skin thickening of palms and soles develops during infancy and may have an unusual pattern affecting the two sides of fingers and palms, but usually sparing the palmar surfaces.|SNOMEDCT_US|N|
C4304964|This syndrome has characteristics of mild intellectual deficit, congenital cataract, progressive sensorineural deafness and ataxia. It has been described in two sisters. The inheritance is likely to be autosomal recessive.|SNOMEDCT_US|N|
C4304968|This syndrome has characteristics of neonatal trigonocephaly and multiple anomalies including craniosynostosis, shallow orbits, unusual nose, deviation of the terminal phalanges of fingers and broad toes with duplication of the terminal phalanx. It has been described in a mother and her son. It is transmitted as an autosomal dominant trait.|SNOMEDCT_US|N|
C4304969|This syndrome has characteristics of trigonocephaly, brachycephaly, bulbous nose (bifid at the tip), micrognathia, macrostomia, hypotonia and relatively broad metatarsals and phalanges. It has been described in a brother and his sister born to consanguineous parents.|SNOMEDCT_US|N|
C4304995|A squamous cell carcinoma that has recurred after a period of remission.|NCI|N|
C4304998|Extreme sensitivity to tickling.|SNOMEDCT_US|N|
C4304999|A recently described syndrome with characteristics of developmental delay, hypotonia and facial dysmorphism. It has been clinically and molecularly described in 3 patients. All three children have similar dysmorphic features, including widely-spaced eyes, short nose with flat nasal bridge, long philtrum, prominent Cupid''s bow, full lower lip and similar auricular anomalies. This syndrome is caused by an interstitial deletion encompassing 14q11.2.|SNOMEDCT_US|N|
C4305000|Orbital leiomyoma is a rare benign smooth muscle tumor arising from the walls of orbital vessels characterized by its slow growth and well encapsulated nature. It is usually located in an extraconal position, commonly manifesting with painless proptosis. The tumor is composed of spindle cells arranged in a fibrous stroma rich in dilated sinusoidal capillaries. The nuclei of tumor cells are oval with blunted ends and there are no mitotic figures.|SNOMEDCT_US|N|
C4305001|Partial agenesis of the pancreas is an absence of a critical mass of pancreatic tissue. It is a rare disorder with only around 50 cases being reported in the literature so far. The severity of the disease depends on the amount of functional pancreatic tissue present. Pancreatic agenesis is commonly associated with other malformations, in particular pancreaticobiliary duct anomalies or more rarely, polysplenia. In the majority of cases, patients are diagnosed after reporting abdominal pain. Agenesis of the dorsal pancreas usually manifests as diabetes. Pancreatic agenesis has been associated with mutations in the PDX1 gene (13q12.1), which encodes the insulin promoter factor-1 (IPF-1) transcription factor.|SNOMEDCT_US|N|
C4305002|VACTERL is an acronym for Vertebral anomalies, Anal atresia, Congenital cardiac disease, Tracheo-oesophageal fistula, Renal anomalies, and Limb defects. VACTERL associated with hydrocephalus has rarely been reported and is thought to be an autosomal recessive anomaly. The condition is described as a uniformly lethal or developmentally devastating disorder distinct from the VATER association.|SNOMEDCT_US|N|
C4305003|This syndrome is characterized by coloboma of the iris, bilateral cleft lip and palate and intellectual deficiency of varying degree. A wide variability in clinical expression is observed. Some patients also present with microphthalmia, cataract, glaucoma, ptosis, sensorineural hearing loss and hematuria. To date, 12 cases have been described from three generations of a single family. Transmission is autosomal dominant.|SNOMEDCT_US|N|
C4305021|This syndrome has characteristics of X-linked intellectual deficit and mild variable manifestations, including short stature, small head circumference, sloping forehead, hearing loss, abnormally shaped ears, and small testes. It has been described in eight affected males from three generations.|SNOMEDCT_US|N|
C4305022|This syndrome has characteristics of intellectual deficiency, short stature, seizures and small hands and feet. It has been described in six males from three generations of one family. Three of them also had cataracts and or glaucoma and two of them had cleft palate. The locus has been mapped to the terminal 8 Mb of Xq28.|SNOMEDCT_US|N|
C4305023|Characterised by marked neonatal hypotonia, progressive quadriparesis, severely delayed developmental milestones (walking at 3 years of age), gastrooesophageal reflux, and stereotypic movements of the hands, esotropia and infantile autism. It has been described in two related males, whereas female carriers were unaffected. Pericentric inversion inv(X)(q13;p22) has been identified it results in the absence of the product of the KIAA2022 gene, highly expressed in the brain.|SNOMEDCT_US|N|
C4305024|X-linked intellectual deficit Cilliers type has characteristics of mild intellectual deficit associated with short stature, hypergonadotropic hypogonadism, microcephaly and mild facial dysmorphism (deep-set eyes, prominent supraorbital ridges, a high nasal bridge and large ears). It has been described in four males from one family. The syndrome is mapped to the Xq25-q26 region of the X-chromosome. The syndrome is transmitted in an X-linked recessive manner.|SNOMEDCT_US|N|
C4305025|Disorder with characteristics of severe intellectual deficit, microcephaly, exotropia and low digital arches. It has been described in four male members of one family. Joint hypermobility, distal muscle wasting, hypogonadism and rocker bottom feet were also reported. Low digital arches and exotropia were described in several female members of the family. Transmission is X-linked and the causative gene has been mapped to Xq13-q22.|SNOMEDCT_US|N|
C4305026|This syndrome has characteristics of the association of dysmorphism with intellectual deficit. It has been described in four generations of one family. Premature death was reported in the affected males. Transmission is X-linked recessive and the causative gene has been located to the q28 region of the X chromosome.|SNOMEDCT_US|N|
C4305027|X-linked intellectual disability Schimke type has characteristics of intellectual deficit, growth retardation with short stature, deafness and ophthalmoplegia. Choreoathetosis with muscle spasticity generally appears during childhood. It has been described in four boys, three of whom were from the same family. Transmission is X-linked.|SNOMEDCT_US|N|
C4305028|This syndrome has characteristics of severe intellectual deficit with mutism, epilepsy, growth retardation and recurrent infections. It has been described in three males from three generations of one family. The causative gene has been located to the 11p region of the X chromosome.|SNOMEDCT_US|N|
C4305072|Van Esch-O'Driscoll syndrome (VEODS) is characterized by varying degrees of intellectual disability, moderate to severe short stature, microcephaly, hypogonadism, and variable congenital malformations (Van Esch et al., 2019).|OMIM|N|
C4305075|This syndrome has manifestations of intellectual deficit, short stature and characteristic facies (hypertelorism, prominent forehead, frontal bossing, a broad nasal tip and anteverted nares). It has been described in four males from three generations of the same family. Two females from this family also displayed intellectual deficit and the characteristic facies. Transmission is X-linked.|SNOMEDCT_US|N|
C4305076|This syndrome is characterized by severe intellectual deficit with hyperactivity, language delay, congenital hip luxation, short stature, kyphosis and recurrent respiratory infections. Aggressive behavior and frequent epileptic seizures may also be present. The syndrome has been described in four boys from the same family. Transmission is X-linked and is caused by mutations in the KIAA1202 gene, localized to the Xp11.2 region.|SNOMEDCT_US|N|
C4305077|This syndrome has characteristics of intellectual deficit, hypotonia, absent deep tendon reflexes, tapered fingers and excessive fingerprint arches, genu valgum, a characteristic face and small teeth. It has been described in four males from two generations of one family. The causative gene appears to be located in the q13 region of the X chromosome.|SNOMEDCT_US|N|
C4305078|This syndrome is characterized by mild to borderline intellectual deficit associated with cleft lip/palate. Preaxial polydactyly, large hands and cryptorchidism are sometimes present. The syndrome has been described in seven boys from two families. Transmission is X-linked and the syndrome is caused by mutations in the PHF8 gene, localized to the p11.21 region of the X chromosome.|SNOMEDCT_US|N|
C4305081|This syndrome is characterized by the association of severe intellectual deficit with microcephaly, strabismus and short stature. It has been described in three boys from two unrelated families. Transmission is X-linked recessive and the causative gene has been localized to the q12-Xq21.31 region of the X-chromosome.|SNOMEDCT_US|N|
C4305085|This syndrome has manifestations of moderate intellectual deficit, obesity, macroorchidism and a characteristic facies (large ears, a prominent lower lip and puffy eyelids). It has been described in nine boys from two families. Transmission is X-linked and the causative gene has been localized to the q21.3-q27 region of the X chromosome.|SNOMEDCT_US|N|
C4305088|This syndrome has characteristics of microcephaly, intellectual deficit, growth retardation and hypogenitalism. It has been described in four boys from one family. A characteristic facies and ophthalmologic anomalies were also present and included microphthalmia, microcornea and cataract. Transmission is X-linked.|SNOMEDCT_US|N|
C4305103|A recently described syndrome with characteristics of short stature, hypogonadism, developmental delay and facial dysmorphism. Facial features include deep-set eyes, bulbous nasal tip and thin lips. Hypogonadism is due to primary gonadal failure. Patients also had some features that are probably caused by testosterone deficiency such as a high-pitched voice, sparse body hair and small hands and feet. Carrier females present with a short stature and early menopause. This syndrome is caused by an Xq27.3q28 interstitial duplication encompassing the FMR1 and AFF2 genes but not the MECP2 gene. Transmission is X-linked.|SNOMEDCT_US|N|
C4305104|An extremely rare mitochondrial disorder with characteristics of facial dysmorphism similar to that seen in Zellweger syndrome. These features include frontal bossing, high forehead, up slanting palpebral fissures, hypoplastic supraorbital ridges, and epicanthal folds and in addition, pale skin, profound hypotonia, developmental delay and minor metabolic anomalies. No peroxisomal defects have been reported. Transmission is thought to be autosomal recessive.|SNOMEDCT_US|N|
C4305131|This syndrome is characterized by the association of total bilateral congenital cataract with the secondary occurrence of glaucoma appearing at ages varying between 10 and 40 years. This very rare syndrome has only been described in three families, one of which contained a few dozen affected individuals spanning eight generations. The disorder is transmitted as an autosomal dominant trait and is caused by dysfunction of the PITX3 gene (localized to 10q25). This gene codes for a transcription factor involved in the development of the lens and anterior segment of the eye.|SNOMEDCT_US|N|
C4305133|This syndrome is characterized by generalized hypotonia, psychomotor deficit, congenital ataxia and recurrent bronchopulmonary infections. It has been described in seven males from three generations of a family. Five of them died during the first years of life and the remaining patients developed myoclonic encephalopathy and macular degeneration. The locus has been mapped to Xp22.33-pter.|SNOMEDCT_US|N|
C4305134|A rare X-linked intellectual disability syndrome with characteristics of psychomotor delay, intellectual deficit, hydrocephalus, and mild facial anomalies. Prevalence is unknown, but the syndrome was originally described in a large Scottish family. Mutations in the AP1S2 gene (Xp22), coding for a subunit of the clathrin-associated adaptor protein complex involved in intracellular protein trafficking and synaptic vesicle recycling, have been identified in seven families.|SNOMEDCT_US|N|
C4305135|This syndrome is an X-linked neurodegenerative disorder with characteristics of intellectual deficit, blindness, convulsions, spasticity, mild hypomyelination and early death. It has been described in about ten male members from two generations of one family. The genetic defect responsible for the disorder is located in the pericentromeric region of the X chromosome, Xp11.3-q12.|SNOMEDCT_US|N|
C4305139|This syndrome has characteristics of ataxia, apraxia, intellectual deficit and or seizures. It has been described in nine males in two unrelated Danish families. It is transmitted as an X-linked recessive syndrome with partial clinical expression in obligate female carriers.|SNOMEDCT_US|N|
C4305140|This syndrome has characteristics of mild intellectual deficit, failure to thrive, short stature and osteopoikilosis. It has been described in four unrelated patients. The syndrome appears to be caused by a heterozygous deletion at chromosome region 12q14, which was detected in three of the four patients. The deleted region contains the LEMD3 gene: mutations in this gene have already been implicated in osteopoikilosis.|SNOMEDCT_US|N|
C4305147|The Nishimura type of spondyloepiphyseal dysplasia (SEDN) is characterized by disproportionate short stature with short limbs, small hands and feet, and midface hypoplasia with small nose. Radiologic hallmarks include mild spondylar dysplasia, delayed epiphyseal ossification of the hip and knee, and severe brachydactyly with cone-shaped phalangeal epiphyses (Grigelioniene et al., 2019).|OMIM|N|
C4305148|An extremely rare type of spondyloepiphyseal dysplasia described in several members of a single family to date and with characteristics of short stature, vertebral and femoral abnormalities, cervical instability and neurological manifestations secondary to anomalies of the odontoid process.|SNOMEDCT_US|N|
C4305149|Spondyloepiphyseal dysplasia MacDermot type has characteristics of short stature, femoral epiphyseal dysplasia, mild vertebral changes and sensorineural deafness. The syndrome has been described in a family in which females in four successive generations were affected. Myopia and retinal detachment were present in adult life.|SNOMEDCT_US|N|
C4305153|A congenital cortical development anomaly due to abnormal neuronal migration involving neocortical and hippocampal lamination, corpus callosum, cerebellum and brainstem. A large clinical spectrum can be observed, from children with severe epilepsy and intellectual and motor deficit to cases with severe cerebral dysgenesis in the antenatal period leading to pregnancy termination due to the severity of the prognosis.|SNOMEDCT_US|N|
C4305155|A form of familial primary hypomagnesemia characterized by low serum magnesium values but normal urinary magnesium values. The typical clinical features are recurrent muscle cramps, episodes of tetany, tremor, and muscle weakness, especially in distal limbs. The disease is potentially fatal. The disease has only been described in one large Brazilian kindred with 46 family members, of whom 21 were affected. Caused by a N255D mutation in the KCNA1 gene (12p13), which encodes the voltage-gated potassium channel Kv1.1. Mutations in KCNA1 result in a nonfunctional channel protein, with a dominant negative effect on wild-type Kv1.1 channel function, which is involved in the maintenance of membrane voltage and optimal function of the TRPM6 channel. Transmission is autosomal dominant.|SNOMEDCT_US|N|
C4305156|A form of peeling skin syndrome that presents with a generalized distribution. It comprises two sub-types: the non-inflammatory (PSS type A) and the inflammatory (PSS type B) forms.|SNOMEDCT_US|N|
C4305230|A recently described syndrome with characteristics of developmental delay, short stature and facial dysmorphism. Dysmorphic features include bi-temporal narrowing, smooth philtrum, pointed chin and dysmorphic ears. All reported patients had a cleft palate, whereas congenital heart defects or epilepsy are observed in patients with large deletions. Deletions are located within chromosome band 15q14, distal to the Prader-Willi/Angelman region. They have a variable size with the smallest deletion being 1.6 Mb in length.|SNOMEDCT_US|N|
C4305240|A recently described syndrome with characteristics of severe intellectual deficit, with a normal neonatal period, followed by a phase of regression at the age of 3-6 months. The phenotype includes other features: postnatal growth retardation and microcephaly, hypotonia, epilepsy, stereotypic movements and feeding problems. Dysmorphic features associate prominent metopic suture, bilateral epicanthic folds, bulbous nasal tip, tented upper lip, everted lower lip and large ears. This syndrome is caused by an interstitial deletion encompassing 14q12. They have a variable size and include FOXG1 as the gene responsible for the intellectual deficit and severe microcephaly.|SNOMEDCT_US|N|
C4305253|The absence or dramatic reduction of circulating human serum albumin (HSA) with less than 50 cases reported in the literature so far. In the majority of cases the disorder is diagnosed in adulthood. Although albumin is the most abundant plasma protein and has many functions, patients present with only a few mild clinical signs and biochemical abnormalities, HSA is either absent or present at very low levels (<1 g/L) but liver function is normal and there is an absence of conditions leading to significant protein loss. The disorder appears to be more severe in the fetus or during early infancy. Transmitted as an autosomal recessive trait and consanguinity has been shown in all reported cases, the disorder is caused by homozygous or compound heterozygous mutations in the gene coding for HSA (ALB; 4q13.3).|SNOMEDCT_US|N|
C4305254|This syndrome has characteristics of severe microcephaly, agyria, agenesis of the corpus callosum, cerebellar hypoplasia, facial dysmorphism and epiphyseal stippling of the metacarpal bones. It has been described in two brothers. The syndrome is transmitted as an autosomal recessive trait and may be an allelic variant of Neu-Laxova syndrome and Lissencephaly type III with cystic dilations of the cerebellum and fetal akinesia sequence.|SNOMEDCT_US|N|
C4305255|This syndrome has characteristics of the association of microencephaly, agenesis of the corpus callosum, brainstem hypoplasia, cystic cerebellum and fetal akinesia sequence. Less than 10 cases have been described so far. The syndrome is transmitted as an autosomal recessive trait and may be an allelic variant of Neu-Laxova syndrome and lissencephaly type III with metacarpal bone dysplasia.|SNOMEDCT_US|N|
C4305257|Mixed autoimmune hemolytic anemia (mixed AIHA) is a type of autoimmune hemolytic anemia defined by the presence of both warm and cold autoantibodies, which have a deleterious effect on red blood cells at either body temperature or at lower temperatures. Diagnosis is based on clinical or laboratory evidence of hemolytic anemia and the detection of autoantibodies, usually both IgG and IgM, with the direct anti-globulin test (DAT) showing a pattern of IgG with complement C3, and the presence of cold agglutinins (IgM) in the serum at a significant titer. The disease responds to corticosteroids, and may be followed by remission, but usually runs a chronic course with intermittent exacerbations.|SNOMEDCT_US|N|
C4305258|This syndrome has characteristics of the association of acanthosis nigricans, insulin resistance, severe muscle cramps and acral hypertrophy. At least five cases have been described in the literature so far. Enlargement of the kidneys was also reported in some cases. Transmission is autosomal recessive.|SNOMEDCT_US|N|
C4305259|This syndrome has characteristics of hypertrophic cardiomyopathy, muscular hypotonia and the presence of lactic acidosis at birth. It has been described in two sisters (both of whom died within the first year of life) from a non-consanguineous Turkish family. The syndrome is caused by a homozygous point mutation in the exon 3A of the SLC25A3 gene encoding a mitochondrial membrane transporter.|SNOMEDCT_US|N|
C4305274|A congenital abnormality in which the eyelids are absent and skin covers the ocular bulb, which is often microphthalmic. Six cases of complete bilateral cryptophthalmia have been described. Transmission is autosomal dominant.|SNOMEDCT_US|N|
C4305275|A rare form of thyroid dysgenesis characterized by complete absence of thyroid tissue that results in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth.|ORPHANET|N|
C4305276|Distal monosomy 6p is responsible for a distinct chromosome deletion syndrome with a recognisable clinical picture including intellectual deficit, ocular abnormalities, hearing loss, and facial dysmorphism. Pure deletions have been described in less than 10 patients. Breakpoints are within 6p24-pter subtelomeric bands.|SNOMEDCT_US|N|
C4305277|A chromosomal anomaly involving terminal deletion of the long arm of chromosome 10 resulting in characteristics of facial dysmorphism, pre and postnatal growth retardation, cardiac and genital anomalies and developmental delay. Prevalence is unknown but around 40 cases have been described in the literature so far. Genital abnormalities have been mostly reported in males, psychomotor retardation (generally described as mild) was present in all reported cases. Distal monosomy 10q results from a subterminal 10q deletion with breakpoints in the 10q25 or 10q26 band leading to partial monosomy for the genes located in this area. Most of the reported cases involved de novo terminal deletions resulting from abnormal non-allelic homolog recombination during meiosis.|SNOMEDCT_US|N|
C4305323|A primary microangiopathy confined to the skin with characteristics of multiple and widespread telangiectasia. It is a rare disorder with less than 20 cases reported in the literature to date. Most patients present in adulthood with symmetrical telangiectasia appearing on the lower extremities and later progressing to the trunk and upper extremities. Thought to be associated with collagen abnormalities in the skin microvasculature.|SNOMEDCT_US|N|
C4305324|A variant of self-healing collodion baby with manifestation of the presence at birth of a collodion membrane only at the extremities. Only 2 cases were described in the literature. In both cases, the babies healed soon after birth. In one case, molecular analysis was performed that revealed mutations in the TGM1 gene encoding transglutaminase 1, an enzyme involved in the cornification of the stratum corneum.|SNOMEDCT_US|N|
C4305343|Encompasses heterozygous overlapping microdeletions on chromosome 8q21.11 resulting in intellectual disability, facial dysmorphism comprising a round face, ptosis, short philtrum, Cupid''s bow and prominent low-set ears, nasal speech and mild finger and toe anomalies. The prevalence is unknown but 8q21.11 microdeletion syndrome is rare. Microdeletions appear de novo or are inherited from affected parents in an autosomal dominant manner.|SNOMEDCT_US|N|
C4305359|Potential for trauma to skin or mucous membranes caused by heat or extreme temperatures during operative procedure.|SNOMEDCT_US|N|
C4305375|A platelet granule disorder with manifestation of thrombocytopenia with giant platelets resulting in increased propensity for bleeding.|SNOMEDCT_US|N|
C4305376|A rare and isolated orofacial defect with manifestation of incomplete median clefts of both the lower lip (limited to the vermilion, with no muscle involvement) and upper lip (with muscle involvement), double labial frenulum and fusion of the upper gingival and upper labial mucosa (resulting in a shallow upper vestibular fold), in addition to poor dental alignment, and increased interdental distance between the lower and upper median incisors. Variable expressivity has been reported in an affected family.|SNOMEDCT_US|N|
C4305378|An exceedingly rare autosomal recessive neurological disorder reported only in a few families so far. It has characteristics of the association of early onset achalasia (manifesting in infancy) with severe intracranial angiopathy that is consistent with Moyamoya angiopathy in most cases. Other variable associated manifestations include hypertension, Raynaud phenomenon and livedo reticularis.|SNOMEDCT_US|N|
C4305467|A neoplasm with neuroendocrine differentiation that arises from the pancreas. It includes neuroendocrine tumors and neuroendocrine carcinomas.|NCI|N|
C4305468|Middle ear neuroendocrine tumor is a rare, otorhinolaryngologic tumor characterized by a mixed glandular and non-glandular histological features and positive immunostaining for pancytokeratin, vimentin, synaptophysin and islet-1 protein. Common signs and symptoms are hearing loss, mass, pain, discharge, equilibrium disturbances, tinnitus and nerve paralysis.|ORDO|N|
C4305511|A tooth with a crown that narrows from proximal toward the incisal edge. Tapering of teeth typically involves incisors.|HPO|N|
C4305545|An obstruction in the ureter leading to bladder outlet obstruction. Special criteria are used for lower urinary tract obstruction (LUTO) in the fetus. Prenatal LUTO has classically been suspected on the basis of three ultrasonographic findings|HPO|N|
C4305568|Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 2, a form of MRKH syndrome (see this term), is characterized by congenital aplasia of the uterus and upper 2/3 of the vagina that is associated with at least one other malformation such as renal, vertebral, or, less commonly, auditory and cardiac defects. The acronym MURCS (MÜllerian duct aplasia, Renal dysplasia, Cervical Somite anomalies) is also used.|ORDO|N|
C4305579|An extremely rare form of corneal dystrophy with manifestation of variable patterns of opacification in the Bowman layer of the cornea that extend anteriorly into the epithelium with decreased to normal visual acuity. Onset is in the first to second decade of life. Patients develop painful erosions that are less severe than those in Reis-Bucklers corneal dystrophy and Thiel-Behnke corneal dystrophy. Visual acuity is normal or sometimes slightly decreased. The condition has a progressive course. An autosomal dominant pattern of inheritance has been reported.|SNOMEDCT_US|N|
C4310232|Infantile hypercalcemia is characterized by severe hypercalcemia, failure to thrive, vomiting, dehydration, and nephrocalcinosis. An epidemic of idiopathic infantile hypercalcemia occurred in the United Kingdom in the 1950s after the implementation of an increased prophylactic dose of vitamin D supplementation; however, the fact that most infants receiving the prophylaxis remained unaffected suggested that an intrinsic hypersensitivity to vitamin D might be implicated in the pathogenesis (summary by Schlingmann et al., 2011).
Genetic Heterogeneity
Infantile hypercalcemia-2 (HCINF2; 616963) is caused by mutation in the SLC34A1 gene (182309) on chromosome 5q35.|OMIM|N|
C4310473|Infantile hypercalcemia is characterized by severe hypercalcemia with failure to thrive, vomiting, dehydration, and nephrocalcinosis (summary by Schlingmann et al., 2016).
For a general phenotypic description and a discussion of genetic heterogeneity of infantile hypercalcemia, see HCINF1 (143880).|OMIM|N|
C4310614|Autoinflammation, panniculitis, and dermatosis syndrome (AIPDS) is an autosomal recessive autoinflammatory disease characterized by neonatal onset of recurrent fever, erythematous rash with painful nodules, painful joints, and lipodystrophy. Additional features may include diarrhea, increased serum C-reactive protein (CRP), leukocytosis, and neutrophilia in the absence of any infection. Patients exhibit no overt primary immunodeficiency (Damgaard et al., 2016 and Zhou et al., 2016).|OMIM|N|
C4310616|Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings.
Hypohidrotic, or anhidrotic, ectodermal dysplasia (HED/EDA) is characterized by a triad of signs comprising sparse hair (hypotrichosis), abnormal or missing teeth (anodontia or hypodontia), and inability to sweat (anhidrosis or hypohidrosis). Typical clinical manifestations also include dryness of the skin, eyes, airways, and mucous membranes presumably due to the defective development of several exocrine glands. Hypohidrotic ectodermal dysplasia can be associated with dysmorphic features (forehead bumps, rings under the eyes, everted nose, and prominent lips) and occasionally with absent nipples (summary by Cluzeau et al., 2011).|OMIM|N|
C4310617|Intellectual developmental disorder with dysmorphic facies and ptosis (IDDDFP) is an autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, delayed language, and dysmorphic facial features, most notably ptosis/blepharophimosis. Additional features may include poor growth, hypotonia, and seizures (summary by Mattioli et al., 2017).
See also chromosome 3p deletion syndrome (613792).|OMIM|N|
C4310618|EBF3 neurodevelopmental disorder (EBF3-NDD) is associated with developmental delay (DD) / intellectual disability (ID), speech delay, gait or truncal ataxia, hypotonia, behavioral problems, and facial dysmorphism. Variability between individuals with EBF3-NDD is significant. Although all affected children have DD noted in early infancy, intellect generally ranges from mild to severe ID, with two individuals functioning in the low normal range. Less common issues can include genitourinary abnormalities and gastrointestinal and/or musculoskeletal involvement. To date, 42 symptomatic individuals from 39 families have been reported.|GeneReviews|N|
C4310619|Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the IMPA1 gene.|MONDO|N|
C4310620|Yao syndrome (YAOS) is an autoinflammatory disease characterized by periodic fever, dermatitis, arthritis, and swelling of the distal extremities, as well as gastrointestinal and sicca-like symptoms. The disorder is associated with specific NOD2 variants (and Shen, 2017).|OMIM|N|
C4310621|Autosomal recessive congenital ichthyosis (ARCI) encompasses several forms of nonsyndromic ichthyosis. Although most neonates with ARCI are collodion babies, the clinical presentation and severity of ARCI may vary significantly, ranging from harlequin ichthyosis, the most severe and often fatal form, to lamellar ichthyosis (LI) and (nonbullous) congenital ichthyosiform erythroderma (CIE). These phenotypes are now recognized to fall on a continuum; however, the phenotypic descriptions are clinically useful for clarification of prognosis and management. Infants with harlequin ichthyosis are usually born prematurely and are encased in thick, hard, armor-like plates of cornified skin that severely restrict movement. Life-threatening complications in the immediate postnatal period include respiratory distress, feeding problems, and systemic infection. Collodion babies are born with a taut, shiny, translucent or opaque membrane that encases the entire body and lasts for days to weeks. LI and CIE are seemingly distinct phenotypes: classic, severe LI with dark brown, plate-like scale with no erythroderma and CIE with finer whiter scale and underlying generalized redness of the skin. Affected individuals with severe involvement can have ectropion, eclabium, scarring alopecia involving the scalp and eyebrows, and palmar and plantar keratoderma. Besides these major forms of nonsyndromic ichthyosis, a few rare subtypes have been recognized, such as bathing suit ichthyosis, self-improving collodion ichthyosis, or ichthyosis-prematurity syndrome.|GeneReviews|N|
C4310622|Anterior segment dysgeneses (ASGD or ASMD) are a heterogeneous group of developmental disorders affecting the anterior segment of the eye, including the cornea, iris, lens, trabecular meshwork, and Schlemm canal. The clinical features of ASGD include iris hypoplasia, an enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, an abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface (summary by Cheong et al., 2016).|OMIM|N|
C4310623|Anterior segment dysgeneses (ASGD or ASMD) are a heterogeneous group of developmental disorders affecting the anterior segment of the eye, including the cornea, iris, lens, trabecular meshwork, and Schlemm canal. The clinical features of ASGD include iris hypoplasia, an enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, an abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface (summary by Cheong et al., 2016).
Anterior segment dysgenesis is sometimes divided into subtypes including aniridia (see 106210), Axenfeld and Rieger anomalies, iridogoniodysgenesis, Peters anomaly, and posterior embryotoxon (Gould and John, 2002).
Patients with ASGD6 have been reported with the Peters anomaly subtype.
Peters anomaly consists of corneal opacity, defects in the posterior structures of the cornea, and iridocorneal and/or keratolenticular adhesions. Over 50% of patients develop glaucoma in childhood (summary by Vincent et al., 2001).|OMIM|N|
C4310624|Congenital bile acid synthesis defect-6 (CBAS6) is characterized by persistent hypertransaminasemia and accumulation of C27 bile acids (summary by Alonso-Pena et al., 2022).
For a general phenotypic description and a discussion of genetic heterogeneity of congenital bile acid synthesis defects, see CBAS1 (607765).|OMIM|N|
C4310626|Any retinitis pigmentosa in which the cause of the disease is a mutation in the REEP6 gene.|MONDO|N|
C4310627|MPSPS is an autosomal recessive inborn error of metabolism resulting in a multisystem disorder with features of the mucopolysaccharidosis lysosomal storage diseases (see, e.g., 607016). Patients present in infancy or early childhood with respiratory difficulties, cardiac problems, anemia, dysostosis multiplex, renal involvement, coarse facies, and delayed psychomotor development. Most patients die of cardiorespiratory failure in the first years of life (summary by Kondo et al., 2017).|OMIM|N|
C4310628|Optic atrophy-11 (OPA11) is an autosomal recessive disorder characterized by delayed psychomotor development, intellectual disability, ataxia, optic atrophy, and leukoencephalopathy on brain imaging. Laboratory studies are consistent with mitochondrial dysfunction (summary by Hartmann et al., 2016).
For a discussion of genetic heterogeneity of optic atrophy, see OPA1 (165500).|OMIM|N|
C4310629|LMPHM7 is an autosomal dominant disorder with variable expressivity. Some patients may develop severe nonimmune lymphatic-related hydrops fetalis (LRHF) in utero, resulting in early death, whereas others may have milder manifestations, such as atrial septal defect (ASD) or varicose veins as adults. The hydrops and/or swelling improves spontaneously in those who survive the neonatal period (summary by Martin-Almedina et al., 2016).
For a discussion of genetic heterogeneity of lymphatic malformation, see 153100.|OMIM|N|
C4310630|Amelogenesis imperfecta is an inherited defect of dental enamel formation that shows both clinical and genetic heterogeneity. In the hypoplastic type of AI, the enamel is of normal hardness but does not develop to normal thickness. The thinness of the enamel makes the teeth appear small. Radiographically, enamel contrasts normally from dentin. The surface of the enamel can vary, showing smooth, rough, pitted, or local forms (Witkop, 1988).|OMIM|N|
C4310631|Epidermolysis bullosa simplex (EBS) is characterized by fragility of the skin (and mucosal epithelia in some instances) that results in non-scarring blisters and erosions caused by minor mechanical trauma. EBS is distinguished from other types of epidermolysis bullosa (EB) or non-EB skin fragility syndromes by the location of the blistering in relation to the dermal-epidermal junction. In EBS, blistering occurs within basal keratinocytes. The severity of blistering ranges from limited to hands and feet to widespread involvement. Additional features can include hyperkeratosis of the palms and soles (keratoderma), nail dystrophy, milia, and hyper- and/or hypopigmentation. Rare EBS subtypes have been associated with additional clinical features including pyloric atresia, muscular dystrophy, cardiomyopathy, and/or nephropathy.|GeneReviews|N|
C4310632|Early-onset vitamin B6-dependent epilepsy-1 (EPEO1) is an autosomal recessive neurologic disorder characterized by onset of seizures in the neonatal period or first months of life. The seizures show favorable response to treatment with activated vitamin B6 (pyridoxal 5-prime-phosphate; PLP) and/or pyridoxine. However, most patients show delayed psychomotor development (Darin et al., 2016).
Genetic Heterogeneity of Early-Onset Epilepsy
EPEO2 (618832) is caused by mutation in the SETD1A gene (611052) on chromosome 16p11. EPEO3 (620465) is caused by mutation in the ATP6V0C gene (108745) on chromosome 16p13. EPEO4 (266100) is caused by mutation in the ALDH7A1 gene (107323) on chromosome 5q23. EPEO5 (615400) is caused by mutation in the CNTN2 gene (190197) on chromosome 1q32.|OMIM|N|
C4310633|KMT2B-related dystonia (DYT-KMT2B) is a complex childhood-onset (mean age 7 years) movement disorder described to date in 39 individuals. It is characterized by a progressive disease course evolving commonly from lower-limb focal dystonia into generalized dystonia with prominent cervical, cranial, and laryngeal involvement. Communication difficulties, secondary to articulation difficulties and low speech volume, are common. Bulbar dysfunction leads to impaired swallowing. Intellectual disability (ID) / developmental delay (DD) are commonly reported. Additional findings can include eye movement abnormalities, skin changes, psychiatric comorbidities (attention-deficit/hyperactivity disorder, anxiety, depression, and obsessive-compulsive disorder), myoclonus, seizures, spasticity, and sensorineural hearing loss. Many affected individuals follow a similar disease course, though milder and atypical findings have been described.|GeneReviews|N|
C4310634|MECR-related neurologic disorder is characterized by a progressive childhood-onset movement disorder and optic atrophy; intellect is often – but not always – preserved. The movement disorder typically presents between ages one and 6.5 years and is mainly dystonia that can be accompanied by chorea and/or ataxia. Over time some affected individuals require assistive devices for mobility. Speech fluency and intelligibility are progressively impaired due to dysarthria. Optic atrophy typically develops between ages four and 12 years and manifests as reduced visual acuity, which can include functional blindness (also known as legal blindness) in adulthood. Because only 13 affected individuals are known to the authors, and because nearly half of them were diagnosed retrospectively as adults, the natural history of disease progression and other aspects of the phenotype have not yet been completely defined.|GeneReviews|N|
C4310635|Developmental and epileptic encephalopathy-49 (DEE49) is a severe autosomal recessive neurologic disorder characterized by onset of seizures in the neonatal period, global developmental delay with intellectual disability and lack of speech, hypotonia, spasticity, and coarse facial features. Some patients may have brain calcifications on imaging (summary by Han et al., 2016).
For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350.|OMIM|N|
C4310636|Familial atrial fibrillation is an inherited abnormality of the heart's normal rhythm. Atrial fibrillation is characterized by episodes of uncoordinated electrical activity (fibrillation) in the heart's upper chambers (the atria), which cause a fast and irregular heartbeat. If untreated, this abnormal heart rhythm (arrhythmia) can lead to dizziness, chest pain, a sensation of fluttering or pounding in the chest (palpitations), shortness of breath, or fainting (syncope). Atrial fibrillation also increases the risk of stroke and sudden death. Complications of atrial fibrillation can occur at any age, although some people with this heart condition never experience any health problems associated with the disorder.|MedlinePlus Genetics|N|
C4310637|Developmental and epileptic encephalopathy-48 (DEE48) is a severe autosomal recessive neurologic disorder characterized by global developmental delay with intellectual disability and absent speech; poor, if any, motor development; and onset of seizures usually in the first year of life, although later onset has been reported. Affected individuals have poor eye contact and may develop microcephaly and abnormal movements (summary by Assoum et al., 2016).
For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350.|OMIM|N|
C4310638|Selective tooth agenesis-9 (STHAG9) is an autosomal dominant disorder characterized by agenesis of various teeth. Other features include taurodontism, microdontia, short tooth roots, sparse and slow-growing hair, and dry and itchy skin (Kantaputra et al., 2015).
For a general phenotypic description and a discussion of genetic heterogeneity of selective tooth agenesis, see STHAG1 (106600).|OMIM|N|
C4310639|Primary congenital glaucoma (PCG) is characterized by elevated intraocular pressure (IOP), enlargement of the globe (buphthalmos), edema, and opacification of the cornea with rupture of Descemet's membrane (Haab's striae), thinning of the anterior sclera and iris atrophy, anomalously deep anterior chamber, and structurally normal posterior segment except for progressive glaucomatous optic atrophy. Symptoms include photophobia, blepharospasm, and excessive tearing. Typically, the diagnosis is made in the first year of life. Depending on when treatment is instituted, visual acuity may be reduced and/or visual fields may be restricted. In untreated individuals, blindness invariably occurs.|GeneReviews|N|
C4310640|Nephronophthisis-20 (NPHP20) is an autosomal recessive tubulointerstitial nephritis characterized by progressive renal fibrosis resulting in end-stage renal failure. The age at onset is relatively late compared to other forms of NPHP, and patients develop end-stage renal disease in the second or third decades. Unlike most other forms of NPHP, NPHP20 does not have features of a ciliopathy and patients do not appear to have extrarenal manifestations (summary by Macia et al., 2017).
For a general phenotypic description and a discussion of genetic heterogeneity of nephronophthisis, see NPHP1 (256100).|OMIM|N|
C4310641|Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the ELP2 gene.|MONDO|N|
C4310644|GDACCF is an intellectual disability syndrome apparent soon after birth with neonatal hypotonia, poor feeding, and respiratory insufficiency followed by delayed psychomotor development and intellectual disability with poor speech. Brain imaging shows aplasia or hypoplasia of the corpus callosum. Affected individuals have variable dysmorphic facial features, and some may have dysplastic, cystic kidneys or mild cardiac defects (summary by Stevens et al., 2016).|OMIM|N|
C4310645|Myofibrillar myopathy-8 (MFM8) is an autosomal recessive myopathy characterized by slowly progressive proximal muscle weakness and atrophy affecting the upper and lower limbs, resulting in increased falls, gait problems, difficulty running or climbing stairs, and upper limb weakness or scapular winging. Some patients develop distal muscle weakness and atrophy. The phenotype may also be consistent with a clinical diagnosis of limb-girdle muscular dystrophy (LGMD). Age at symptom onset ranges from infancy to adulthood. Ambulation is generally preserved and cardiac involvement is rare, but respiratory compromise with decreased forced vital capacity often occurs. Muscle biopsy shows a mix of myopathic features, including myofibrillar inclusions and sarcomeric disorganization; some patients have been reported to have dystrophic changes on muscle biopsy (O'Grady et al., 2016; Daimaguler et al., 2021). There is significant phenotypic variation, even in patients with the same mutation, which must be taken into account when counseling affecting individuals (Woods et al., 2020).
For a general phenotypic description and a discussion of genetic heterogeneity of myofibrillar myopathy, see MFM1 (601419).|OMIM|N|
C4310646|Lissencephaly-8 (LIS8) is an autosomal recessive neurologic disorder characterized by delayed psychomotor development, intellectual disability with poor or absent speech, early-onset refractory seizures, and hypotonia. Brain imaging shows variable features, including cortical gyral abnormalities and hypoplasia of the corpus callosum, brainstem, and cerebellum (Jerber et al., 2016).
For a general description and a discussion of genetic heterogeneity lissencephaly, see LIS1 (607432).|OMIM|N|
C4310647|Any Seckel syndrome in which the cause of the disease is a mutation in the NSMCE2 gene.|MONDO|N|
C4310648|Uncombable hair syndrome (UHS) is characterized by silvery, blond, or straw-colored scalp hair that is dry, frizzy, and wiry, has a characteristic sheen, stands away from the scalp in multiple directions, and is impossible to comb. This hair shaft disorder occurs in children and improves with age. The hair growth rate can range from slow to normal (summary by U. Basmanav et al., 2016).
For a general phenotypic description and a discussion of genetic heterogeneity of UHS, see UHS1 (191480).|OMIM|N|
C4310649|Uncombable hair syndrome (UHS) is characterized by silvery, blond, or straw-colored scalp hair that is dry, frizzy, and wiry, has a characteristic sheen, stands away from the scalp in multiple directions, and is impossible to comb. This hair shaft disorder occurs in children and improves with age. The hair growth rate can range from slow to normal (summary by U. Basmanav et al., 2016).
For a general phenotypic description and a discussion of genetic heterogeneity of UHS, see UHS1 (191480).|OMIM|N|
C4310650|MGCA8 is an autosomal recessive metabolic disorder resulting in death in infancy. Features include hypotonia, abnormal movements, respiratory insufficiency with apneic episodes, and lack of developmental progress, often with seizures. Brain imaging is variable, but may show progressive cerebral atrophy. Laboratory studies show increased serum lactate and 3-methylglutaconic aciduria, suggesting a mitochondrial defect (summary by Mandel et al., 2016).
For a phenotypic description and a discussion of genetic heterogeneity of 3-methylglutaconic aciduria, see MGCA type I (250950).|OMIM|N|
C4310651|Fanconi anemia (FA) is characterized by physical abnormalities, bone marrow failure, and increased risk for malignancy. Physical abnormalities, present in approximately 75% of affected individuals, include one or more of the following: short stature, abnormal skin pigmentation, skeletal malformations of the upper and/or lower limbs, microcephaly, and ophthalmic and genitourinary tract anomalies. Progressive bone marrow failure with pancytopenia typically presents in the first decade, often initially with thrombocytopenia or leukopenia. The incidence of acute myeloid leukemia is 13% by age 50 years. Solid tumors – particularly of the head and neck, skin, and genitourinary tract – are more common in individuals with FA.|GeneReviews|N|
C4310652|Fanconi anemia (FA) is characterized by physical abnormalities, bone marrow failure, and increased risk for malignancy. Physical abnormalities, present in approximately 75% of affected individuals, include one or more of the following: short stature, abnormal skin pigmentation, skeletal malformations of the upper and/or lower limbs, microcephaly, and ophthalmic and genitourinary tract anomalies. Progressive bone marrow failure with pancytopenia typically presents in the first decade, often initially with thrombocytopenia or leukopenia. The incidence of acute myeloid leukemia is 13% by age 50 years. Solid tumors – particularly of the head and neck, skin, and genitourinary tract – are more common in individuals with FA.|GeneReviews|N|
C4310653|LICS is an autosomal recessive chromosome breakage syndrome characterized by failure to thrive in infancy, immune deficiency, and fatal progressive pediatric lung disease induced by viral infection. Some patients may have mild dysmorphic features (summary by van der Crabben et al., 2016).|OMIM|N|
C4310654|Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SLC18A3 gene.|MONDO|N|
C4310655|Myopia, or nearsightedness, is a refractive error of the eye. Light rays from a distant object are focused in front of the retina and those from a near object are focused in the retina; therefore distant objects are blurry and near objects are clear (summary by Kaiser et al., 2004).
For a discussion of genetic heterogeneity of susceptibility to myopia, see 160700.|OMIM|N|
C4310656|Any primary immunodeficiency disease in which the cause of the disease is a mutation in the BCL11B gene.|MONDO|N|
C4310658|Neonatal intractable myoclonus (NEIMY) is a severe neurologic disorder characterized by the onset of intractable myoclonic seizures soon after birth. Affected infants have intermittent apnea, abnormal eye movements, pallor of the optic nerve, and lack of developmental progress. Brain imaging shows a progressive leukoencephalopathy. Some patients may die in infancy. There is phenotypic and biochemical evidence of mitochondrial dysfunction (summary by Duis et al., 2016).|OMIM|N|
C4310660|Autosomal recessive limb-girdle muscular dystrophy-21 (LGMDR21) is characterized by progressive limb-girdle weakness with age of onset ranging from congenital to adult. Muscle imaging shows a specific and selective pattern of fatty muscle degeneration (summary by Servian-Morilla et al., 2020).
For a discussion of genetic heterogeneity of autosomal recessive LGMD, see LGMDR1 (253600).|OMIM|N|
C4310661|Combined oxidative phosphorylation deficiency-31 is an autosomal recessive multisystem disorder characterized by left ventricular noncompaction (LVNC), global developmental delay, and severe hypotonia. More variable features include seizures, cataract, and abnormal movements. The disorder becomes apparent soon after birth or in early infancy, and patients may die in early childhood. Biochemical studies are consistent with a defect in mitochondrial function (summary by Eldomery et al., 2016).
For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060).|OMIM|N|
C4310665|Autosomal recessive amelogenesis imperfecta of the pigmented hypomaturation type is characterized by enamel of normal thickness that is hypomineralized and has a mottled appearance. The slightly soft enamel detaches easily from the dentin, and radiographs show a lack of contrast between enamel and dentin (Witkop, 1989).|OMIM|N|
C4310666|Spermatogenic failure-17 (SPGF17) is characterized by male infertility due to acrosomal defects, causing oocyte activation deficiency resulting in total fertilization failure. Fertilization can be rescued by assisted oocyte activation (Escoffier et al., 2016; Dai et al., 2020).
For a general phenotypic description and a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).|OMIM|N|
C4310667|Progressive encephalopathy with amyotrophy and optic atrophy (PEAMO) is a severe autosomal recessive neurodegenerative disorder characterized by delayed development with hypotonia apparent in infancy and subsequent motor regression. Most affected individuals are unable to or lose the ability to sit and show distal amyotrophy and weakness of all 4 limbs. The patients are cognitively impaired and unable to speak or have severe dysarthria. Additional features include optic atrophy, thin corpus callosum, and cerebellar atrophy (Sferra et al., 2016).|OMIM|N|
C4310668|Autosomal visceral heterotaxy-8 (HTX8) is an autosomal recessive developmental disorder characterized by visceral situs inversus associated with complex congenital heart malformations caused by defects in the normal left-right asymmetric positioning of internal organs (summary by Vetrini et al., 2016).
For a discussion of the genetic heterogeneity of visceral heterotaxy, see HTX1 (306955).|OMIM|N|
C4310669|Periventricular nodular heterotopia-7 (PVNH7) is a neurologic disorder characterized by abnormal neuronal migration during brain development resulting in delayed psychomotor development and intellectual disability; some patients develop seizures. Other features include cleft palate and 2-3 toe syndactyly (summary by Broix et al., 2016).
For a phenotypic description and a discussion of genetic heterogeneity of periventricular heterotopia, see 300049.|OMIM|N|
C4310670|Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the GLDN gene.|MONDO|N|
C4310671|PEBAT is an autosomal recessive neurodevelopmental disorder characterized by severely delayed psychomotor development apparent soon after birth or in infancy, profound intellectual disability, poor or absent speech, and seizures. Most patients are never able to walk due to hypotonia or spasticity. Brain imaging shows cerebral and cerebellar atrophy, thin corpus callosum, and secondary hypomyelination. The disorder shows progressive features, including microcephaly, consistent with a neurodegenerative process (summary by Miyake et al., 2016; Flex et al., 2016).|OMIM|N|
C4310672|Shashi-Pena syndrome is a neurodevelopmental syndrome characterized by delayed psychomotor development, variable intellectual disability, hypotonia, facial dysmorphism, and some unusual features, including enlarged head circumference, glabellar nevus flammeus, and deep palmar creases. Some patients may also have atrial septal defect, episodic hypoglycemia, changes in bone mineral density, and/or seizures (summary by Shashi et al., 2016).|OMIM|N|
C4310673|Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the MBOAT7 gene.|MONDO|N|
C4310674|Spermatogenic failure-16 (SPGF16) is characterized by acephalic spermatozoa causing male infertility. Semen from affected men consistently shows nearly 100% abnormally shaped spermatozoa, mostly made up of headless tails, with a small proportion of intact spermatozoa with an abnormal head-tail junction, as well as a few tailless heads. Ultrastructurally, the anomaly involves absence of the implantation fossa and basal plate between the sperm head and the tail (summary by Zhu et al., 2016).
For a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).|OMIM|N|
C4310675|Early-onset progressive encephalopathy with brain edema and/or leukoencephalopathy-1 (PEBEL1) is an autosomal recessive severe neurometabolic disorder characterized by rapidly progressive neurologic deterioration that is usually associated with a febrile illness. Affected infants tend to show normal early development followed by acute psychomotor regression with ataxia, hypotonia, respiratory insufficiency, and seizures, resulting in coma and death in the first years of life. Brain imaging shows multiple abnormalities, including brain edema and signal abnormalities in the cortical and subcortical regions (summary by Kremer et al., 2016).
Genetic Heterogeneity of PEBEL
See also PEBEL2 (618321), caused by mutation in the NAXD gene (615910) on chromosome 13q34.|OMIM|N|
C4310676|MTDPS12A is characterized by severe hypotonia due to mitochondrial dysfunction apparent at birth. Affected infants have respiratory insufficiency requiring mechanical ventilation and have poor or no motor development. Many die in infancy, and those that survive have profound hypotonia with significant muscle weakness and inability to walk independently. Some patients develop hypertrophic cardiomyopathy. Muscle samples show mtDNA depletion and severe combined mitochondrial respiratory chain deficiencies (summary by Thompson et al., 2016).
For a discussion of genetic heterogeneity of mtDNA depletion syndromes, see MTDPS1 (603041).|OMIM|N|
C4310677|Harel-Yoon syndrome is a syndromic neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, truncal hypotonia, spasticity, and peripheral neuropathy. Other more variable features such as optic atrophy may also occur. Laboratory studies in some patients show evidence of mitochondrial dysfunction (summary by Harel et al., 2016).|OMIM|N|
C4310678|GNB5-related neurodevelopmental disorder (GNB5-NDD) is characterized by a spectrum of neurodevelopmental phenotypes that range from severe-to-profound intellectual disability (ID; 31/41 reported individuals), to mild-to-moderate ID (5/41), to normal intellect with severe language disorder (5/41, one extended family). A unique and specific feature of GNB5-NDD – regardless of neurodevelopmental phenotype – is nearly universal bradycardia caused by sinoatrial node dysfunction (sick sinus syndrome). Most individuals with severe and profound ID have a developmental and epileptic encephalopathy with focal seizures or epileptic spasms, as well as visual impairment (central or retinal) with nystagmus, difficulty feeding, and gastroesophageal reflux disease. The risk of early mortality is increased.|GeneReviews|N|
C4310679|Chitayat syndrome (CHYTS) is a rare condition characterized by respiratory distress presenting at birth, bilateral accessory phalanx resulting in shortened index fingers with ulnar deviation, hallux valgus, and characteristic facial features including prominent eyes, hypertelorism, depressed nasal bridge, full lips, and upturned nose (summary by Balasubramanian et al., 2017).|OMIM|N|
C4310680|An autosomal recessive condition caused by mutation(s) in the RCBTB1 gene, encoding RCC1 and BTB domain-containing protein 1. It is characterized by severe retinal dystrophy. Associated extraocular abnormalities may or may not be present.|NCI|N|
C4310681|Periodontal Ehlers-Danlos syndrome (pEDS) is characterized by distinct oral manifestations. Periodontal tissue breakdown beginning in the teens results in premature loss of teeth. Lack of attached gingiva and thin and fragile gums lead to gingival recession. Connective tissue abnormalities of pEDS typically include easy bruising, pretibial plaques, distal joint hypermobility, hoarse voice, and less commonly manifestations such as organ or vessel rupture. Since the first descriptions of pEDS in the 1970s, 148 individuals have been reported in the literature; however, future in-depth descriptions of non-oral manifestations in newly diagnosed individuals with a molecularly confirmed diagnosis of pEDS will be important to further define the clinical features.|GeneReviews|N|
C4310683|Neurodevelopmental disorder with hypotonia and impaired expressive language and with or without seizures (NEDHELS) is an autosomal recessive disorder characterized by hypotonia, poor feeding, and global developmental delay apparent from infancy. Most patients have poor overall growth, poor eye contact, sleep disturbances, and severely impaired expressive language. Affected individuals also tend to have behavioral problems, microcephaly, and variable dysmorphic features; many develop seizures. Brain imaging may show enlarged ventricles, thin corpus callosum and brainstem, and white matter abnormalities. The phenotype is variable (summary by Nabais Sa et al., 2019).|OMIM|N|
C4310684|MRT74 is characterized by intellectual impairment, macrocephaly, and dysmorphic features. Epilepsy with eyelid myoclonus has also been reported (Almuriekhi et al., 2015; Mastrangelo et al., 2020).|OMIM|N|
C4310685|Developmental and epileptic encephalopathy-47 (DEE47) is a neurologic disorder characterized by onset of intractable seizures in the first days or weeks of life. EEG shows background slowing and multifocal epileptic spikes, and may show hypsarrhythmia. Most patients have developmental regression after seizure onset and show persistent intellectual disability and neurologic impairment, although the severity is variable. Treatment with phenytoin, a voltage-gated sodium channel blocker, may be beneficial (summary by Guella et al., 2016).
For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350.|OMIM|N|
C4310686|The core features of short stature-micrognathia syndrome (SSMG) are intrauterine growth restriction (IUGR), postnatal short stature that is often rhizomelic, and micrognathia. Other common features include preterm birth, microcephaly, developmental delay, and genitourinary malformations in males. Transient liver dysfunction and glycosylation abnormalities during illness, giant cell hepatitis, hepatoblastoma, and cataracts have also been observed. Inter- and intrafamilial phenotypic severity varies greatly, from a relatively mild disorder to intrauterine death or stillbirth (Ritter et al., 2022).|OMIM|N|
C4310687|GRIN2D-related developmental and epileptic encephalopathy (GRIN2D-related DEE) is characterized by mild-to-profound developmental delay or intellectual disability, epilepsy, abnormal muscle tone (hypotonia and spasticity), movement disorders (dystonia, dyskinesia, chorea), autism spectrum disorder, and cortical visual impairment. Additional findings can include sleep disorders and feeding difficulties. To date 22 individuals with GRIN2D-related DEE have been reported.|GeneReviews|N|
C4310688|CHD4 neurodevelopmental disorder (CHD4-NDD) is associated with developmental delay, speech delay, and usually mild-to-moderate intellectual disability. Variability between individuals with CHD4-NDD is significant, and a few have normal intelligence. Other manifestations can include brain anomalies, heart defects, and skeletal abnormalities; less common features are hypogonadism in males, hearing impairment, and ophthalmic abnormalities. Most affected individuals have mild nonspecific dysmorphic facial features with or without macrocephaly.|GeneReviews|N|
C4310689|A rare genetic, multiple congenital anomalies syndrome characterized by short stature, hand brachydactyly with hypoplastic distal phalanges, global development delay, intellectual disability, and more variably seizures, obesity, and craniofacial dysmorphism that includes microcephaly, high forehead, flat face, hypertelorism, deep set eyes, flat nasal bridge, averted nostrils, long philtrum, thin lip vermilion, and short neck.|ORDO|N|
C4310690|Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the TFAM gene.|MONDO|N|
C4310691|Developmental and epileptic encephalopathy-45 (DEE45) is a neurologic disorder characterized by global developmental delay apparent in infancy or early childhood and onset of seizures within the first 12 months of life. Affected individuals have severely impaired intellectual development, hypotonia, and other persistent neurologic deficits (summary by Burgess et al., 2019).
For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350.|OMIM|N|
C4310692|Distal arthrogryposis with impaired proprioception and touch is an autosomal recessive neurologic disorder characterized by loss of certain mechanosensation modalities resulting in ataxia, difficulty walking, dysmetria, muscle weakness and atrophy, and progressive skeletal contractures. Patients have onset of symptoms in early childhood (summary by Chesler et al., 2016 and Delle Vedove et al., 2016).|OMIM|N|
C4310693|Childhood-onset neurodegeneration with ataxia, dystonia, and gaze palsy (NADGP) is an autosomal recessive progressive disorder characterized by onset of gait ataxia, cognitive decline, and gaze palsy in the first or second decades. Additional features include dysarthria, dystonia, and athetoid movements. Some patients may become wheelchair-bound as young adults (summary by Haack et al., 2016).|OMIM|N|
C4310694|Congenital myasthenic syndrome-20 is an autosomal recessive neuromuscular disorder characterized by severe hypotonia associated with episodic apnea soon after birth. Patients have muscle weakness resulting in delayed walking, ptosis, poor sucking and swallowing, and generalized limb fatigability and weakness. EMG studies usually show a decremental response to repetitive nerve stimulation, and some patients may show a good response to AChE inhibitors (summary by Bauche et al., 2016).
For a discussion of genetic heterogeneity of CMS, see CMS1A (601462).|OMIM|N|
C4310695|Any isolated aniridia in which the cause of the disease is a mutation in the TRIM44 gene.|MONDO|N|
C4310696|ZTTK syndrome (ZTTKS) is a severe multisystem developmental disorder characterized by delayed psychomotor development and intellectual disability. Affected individuals have characteristic dysmorphic facial features, hypotonia, poor feeding, poor overall growth, and eye or visual abnormalities. Most patients also have musculoskeletal abnormalities, and some have congenital defects of the heart and urogenital system. Brain imaging usually shows developmental abnormalities such as gyral changes, cortical and/or cerebellar atrophy, and thin corpus callosum (summary by Kim et al., 2016).|OMIM|N|
C4310697|Frontometaphyseal dysplasia (FMD) is a progressive sclerosing skeletal dysplasia characterized by supraorbital hyperostosis, undermodeling of the small bones, and small and large joint contractures, as well as extraskeletal developmental abnormalities, primarily of the cardiorespiratory system and genitourinary tract. Patients with FMD2 appear to have a propensity for keloid formation (summary by Wade et al., 2016).
For a discussion of genetic heterogeneity of frontometaphyseal dysplasia, see FMD1 (305620).|OMIM|N|
C4310699|Any autosomal dominant cerebellar ataxia in which the cause of the disease is a mutation in the UBA5 gene.|MONDO|N|
C4310700|Developmental and epileptic encephalopathy-44 (DEE44) is an autosomal recessive neurologic disorder characterized by the onset of refractory infantile spasms or myoclonus usually in the first weeks or months of life, up to about 12 months of age. Affected infants may have normal or mildly delayed development before the onset of seizures, but thereafter show developmental stagnation and severe neurologic impairment. EEG in some patients shows hypsarrhythmia, consistent with a clinical diagnosis of West syndrome. Additional features include poor feeding and poor overall growth with microcephaly, axial hypotonia with peripheral hypertonia or spasticity, abnormal movements, limited eye contact, and profoundly impaired intellectual development with absent language. Many patients require tube feeding, and some die in childhood (summary by Muona et al., 2016; Colin et al., 2016).
For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350.|OMIM|N|
C4310703|Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the ZC3H14 gene.|MONDO|N|
C4310704|Any retinitis pigmentosa in which the cause of the disease is a mutation in the POMGNT1 gene.|MONDO|N|
C4310705|Classic Joubert syndrome (JS) is characterized by three primary findings: A distinctive cerebellar and brain stem malformation called the molar tooth sign (MTS). Hypotonia. Developmental delays. Often these findings are accompanied by episodic tachypnea or apnea and/or atypical eye movements. In general, the breathing abnormalities improve with age, truncal ataxia develops over time, and acquisition of gross motor milestones is delayed. Cognitive abilities are variable, ranging from severe intellectual disability to normal. Additional findings can include retinal dystrophy, renal disease, ocular colobomas, occipital encephalocele, hepatic fibrosis, polydactyly, oral hamartomas, and endocrine abnormalities. Both intra- and interfamilial variation are seen.|GeneReviews|N|
C4310706|Classic Joubert syndrome (JS) is characterized by three primary findings: A distinctive cerebellar and brain stem malformation called the molar tooth sign (MTS). Hypotonia. Developmental delays. Often these findings are accompanied by episodic tachypnea or apnea and/or atypical eye movements. In general, the breathing abnormalities improve with age, truncal ataxia develops over time, and acquisition of gross motor milestones is delayed. Cognitive abilities are variable, ranging from severe intellectual disability to normal. Additional findings can include retinal dystrophy, renal disease, ocular colobomas, occipital encephalocele, hepatic fibrosis, polydactyly, oral hamartomas, and endocrine abnormalities. Both intra- and interfamilial variation are seen.|GeneReviews|N|
C4310707|Bardet-Biedl syndrome-20 (BBS20), a rare autosomal recessive disorder associated with ciliary dysfunction, is characterized by rod-cone dystrophy, postaxial polydactyly, truncal obesity, renal anomalies, and learning disability, as well as hypogonadism in males and genital abnormalities in females (Saida et al., 2014).
For a general phenotypic description and discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (209900).|OMIM|N|
C4310708|Familial focal epilepsy with variable foci (FFEVF) is an autosomal dominant form of epilepsy characterized by focal seizures arising from different cortical regions, including the temporal, frontal, parietal, and occipital lobes. Seizure types commonly include temporal lobe epilepsy (TLE), frontal lobe epilepsy (FLE), and nocturnal frontal lobe epilepsy (NFLE). A subset of patients have structural brain abnormalities, particularly focal cortical dysplasia (FCD). There is significant incomplete penetrance, with many unaffected mutation carriers within a family (summary by Ricos et al., 2016).
For a discussion of genetic heterogeneity of FFEVF, see FFEVF1 (604364).|OMIM|N|
C4310709|Familial focal epilepsy with variable foci (FFEVF) is an autosomal dominant form of epilepsy characterized by focal seizures arising from different cortical regions, including the temporal, frontal, parietal, and occipital lobes. Seizure types commonly include temporal lobe epilepsy (TLE), frontal lobe epilepsy (FLE), and nocturnal frontal lobe epilepsy (NFLE). A subset of patients have structural brain abnormalities, particularly focal cortical dysplasia (FCD). There is significant incomplete penetrance, with many unaffected mutation carriers within a family (summary by Ricos et al., 2016).
For a discussion of genetic heterogeneity of FFEVF, see FFEVF1 (604364).|OMIM|N|
C4310710|Peeling skin syndrome-5 (PSS5) is characterized by superficial peeling of the dorsal and palmar skin of the hands and feet; the skin of the forearms and legs may also be involved. Some patients exhibit diffuse yellowish hyperkeratotic palmoplantar plaques (Pigors et al., 2016).
For a general phenotypic description and a discussion of genetic heterogeneity of peeling skin syndrome, see PSS1 (270300).|OMIM|N|
C4310711|Myofibrillar myopathy-7 (MFM7) is an autosomal recessive muscle disorder characterized by early childhood onset of slowly progressive muscle weakness that primarily affects the lower limbs and is associated with joint contractures (summary by Straussberg et al., 2016).
For a general phenotypic description and a discussion of genetic heterogeneity of myofibrillar myopathy, see MFM1 (601419).|OMIM|N|
C4310712|Developmental and epileptic encephalopathy-43 (DEE43) is a neurologic disorder characterized by the onset of various types of seizures usually in the first year of life. The age at onset is highly variable, ranging from the neonatal period to about 12 months of age. Later onset may rarely occur. Seizure types include febrile, infantile spasms, focal, tonic-clonic, and myoclonic; they tend to be refractory to treatment. Affected individuals show global developmental delay with mild to moderate intellectual disability, although some may have normal early development before the onset of seizures. EEG shows focal, multifocal, or generalized sharp waves associated with seizures, sometimes with hypsarrhythmia. Additional more variable features include tube feeding, hypotonia, peripheral hypertonia, ataxia, dyskinesia, and behavioral difficulties, including aggression, ADHD, stereotypic, and impulsive behavior (summary by the Epi4K Consortium, 2016).
For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350.|OMIM|N|
C4310713|Patterned macular dystrophy-3 (MDPT3), also called Martinique crinkled retinal pigment epitheliopathy, appears in the fourth or fifth decade of life and is characterized by a 'dry desert land' pattern of the fundus, involving the posterior pole initially and progressing from the temporal fovea to the periphery of the retina. Polypoid choroidal vasculopathy, choroidal neovascularization, or atrophic fibrous macular scarring can cause reduced visual acuity after age 50. Late-stage MDPT3 consists of a retinitis pigmentosa (RP; see 268000)-like phenotype due to death of retinal pigment epithelium (RPE) and photoreceptor cells. The dry desert land pattern observed on fundus examination corresponds to an irregular thickness of the Bruch membrane and the RPE, with a scalloped elevation ('crinkling') of the RPE observed on optical coherence tomography (OCT). Full-field electroretinography may be normal at preclinical and early stages of the dystrophy, but later cone and rod responses are severely reduced, consistent with progressive photoreceptor cell dysfunction and death at the final state (summary by Meunier et al., 2016).
For a general phenotypic description and discussion of genetic heterogeneity of patterned macular dystrophy, see MDPT1 (169150).|OMIM|N|
C4310714|Sessile serrated polyposis cancer syndrome (SSPCS) is a rare disorder characterized by the presence of multiple serrated polyps in the colon and an increased personal and familial risk of colorectal cancer. SSPCS is defined by the World Health Organization (WHO) as the presence of at least 5 sessile serrated polyps (also known as 'sessile serrated adenomas,' or SSAs) proximal to the sigmoid colon, with 2 or more that are greater than 10 mm in diameter; or any number of serrated polyps in a person with a first-degree relative with SSPCS; or more than 20 serrated polyps of any size, distributed throughout the colon. SSAs are found in 2% of average-risk individuals undergoing their first screening colonoscopy, and are estimated to be responsible for 20 to 35% of all colon cancers. SSAs exhibit somatic mutations in the BRAF gene (164757), or less commonly in the KRAS gene (190070), early in their development. Individuals with SSPCS have a lifetime risk of colon cancer as high as 54% and may have a strong personal or family history of extracolonic cancers; first-degree relatives have a 32% risk of developing multiple serrated polyps and a 5-fold increased risk of colon cancer. An increased risk of pancreatic cancer has also been observed (summary by Gala et al., 2014).|OMIM|N|
C4310715|Thauvin-Robinet-Faivre syndrome is an autosomal recessive disorder characterized by generalized overgrowth, mainly of height, and mildly delayed psychomotor development with mild or severe learning difficulties. More variable features may include congenital heart defects, kidney abnormalities, and skeletal defects. Patients may have an increased risk for Wilms tumor (summary by Akawi et al., 2016).|OMIM|N|
C4310716|Developmental and epileptic encephalopathy-42 (DEE42) is a neurologic disorder characterized by the onset of various types of seizures in the first hours or days of life, although rare patients may have onset in the first weeks of life. The seizures tend to be refractory and associated with EEG abnormalities, including multifocal spikes and generalized spike-wave complexes. Affected infants show global developmental delay with severely impaired intellectual development. Other features may include axial hypotonia, peripheral hypertonia with hyperreflexia, tremor, ataxia, and abnormal eye movements (summary by the Epi4K Consortium, 2016).
For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350.|OMIM|N|
C4310717|Developmental and epileptic encephalopathy-41 (DEE41) is a neurologic disorder characterized by the onset of seizures in the first days or weeks of life. Affected infants show severely impaired psychomotor development with hypotonia, spasticity, lack of speech, poor visual fixation, feeding difficulties sometimes necessitating tube feeding, poor overall growth and microcephaly, and contractures. Brain imaging may show delayed myelination, thin corpus callosum, and cerebral atrophy (summary by the EPI4K Consortium, 2016).
For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350.|OMIM|N|
C4310718|Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013).
There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, 218330).
For a discussion of genetic heterogeneity of short-rib thoracic dysplasia with or without polydactyly, see SRTD1 (208500).|OMIM|N|
C4310719|Familial adenomatous polyposis-4 is an autosomal recessive tumor predisposition syndrome characterized by the development of multiple colonic adenomas in adulthood, often with progression to colorectal cancer. Proliferative lesions in other tissues may also occur (summary by Adam et al., 2016).
For a discussion of genetic heterogeneity of familial adenomatous polyposis, see FAP1 (175100).|OMIM|N|
C4310720|GRIDHH is an autosomal recessive multisystem disorder characterized by  poor overall growth, impaired intellectual development, hypotonia, and variable liver dysfunction. Additional features, such as seizures and hearing loss, may also be present (summary by Kopajtich et al., 2016).|OMIM|N|
C4310721|Primary ciliary dyskinesia-35 (CILD35) is an autosomal recessive disorder characterized by recurrent upper and lower respiratory infections due to defective ciliary function. Examination of respiratory cilia shows lack of outer dynein arms (ODAs) and immotile cilia. Some patients may have laterality defects (summary by Wallmeier et al., 2016).
For a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400).|OMIM|N|
C4310722|Primary ciliary dyskinesia-34 (CILD34) is an autosomal recessive disorder characterized by childhood onset of recurrent sinopulmonary infections due to impaired ciliary function. Affected males are infertile due to impaired sperm function and viability. Laterality defects have not been observed in this type of CILD (summary by El Khouri et al., 2016).
For a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400).|OMIM|N|
C4310723|Autosomal recessive primary microcephaly-17 (MCPH17) is a severe neurologic disorder characterized by very small head circumference that is apparent at birth and worsens over time (up to -12 SD). Affected individuals have delayed psychomotor development, intellectual disability, spasticity, axial hypotonia, and dysmorphic features. Brain imaging shows a simplified gyral pattern; more severe cases have lissencephaly with hypoplasia of the brainstem and cerebellum (summary by Harding et al., 2016).
For a phenotypic description and a discussion of genetic heterogeneity of primary microcephaly, see MCPH1 (251200).|OMIM|N|
C4310724|Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013). There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, 218330).
SRTD15 is characterized by narrow thorax, oral and cardiovascular anomalies, short long bones, and postaxial polydactyly, in addition to other congenital anomalies. Considerable variability in features and in severity has been reported, with some affected individuals succumbing shortly after birth and others living to adulthood, even within the same family.
For a discussion of genetic heterogeneity of short-rib thoracic dysplasia with or without polydactyly, see SRTD1 (208500).|OMIM|N|
C4310725|MFN2 hereditary motor and sensory neuropathy (MFN2-HMSN) is a classic axonal peripheral sensorimotor neuropathy, inherited in either an autosomal dominant (AD) manner (~90%) or an autosomal recessive (AR) manner (~10%). MFN2-HMSN is characterized by more severe involvement of the lower extremities than the upper extremities, distal upper-extremity involvement as the neuropathy progresses, more prominent motor deficits than sensory deficits, and normal (>42 m/s) or only slightly decreased nerve conduction velocities (NCVs). Postural tremor is common. Median onset is age 12 years in the AD form and age eight years in the AR form. The prevalence of optic atrophy is approximately 7% in the AD form and approximately 20% in the AR form.|GeneReviews|N|
C4310726|Encephalopathy due to defective mitochondrial and peroxisomal fission-2 (EMPF2) is an autosomal recessive disorder characterized by delayed psychomotor development, severe hypotonia with inability to walk, microcephaly, and abnormal signals in the basal ganglia. More variable features include early-onset seizures, optic atrophy, and peripheral neuropathy (summary by Koch et al., 2016).
For a discussion of genetic heterogeneity of EMPF, see EMPF1 (614388).|OMIM|N|
C4310728|Benign familial infantile seizures-5 (BFIS5) is an autosomal dominant neurologic disorder characterized by onset of afebrile seizures during infancy. In most cases, the seizures remit by age 2 years, although some patients may have single or a few seizures later in childhood. The seizures respond well to treatment with sodium channel blockers, and patients have normal subsequent psychomotor development. Some patients may develop paroxysmal kinesigenic dyskinesia around puberty (summary by Gardella et al., 2016 and Anand et al., 2016).
For a general phenotypic description and a discussion of genetic heterogeneity of benign familial infantile seizures, see BFIS1 (601764).|OMIM|N|
C4310729|Nasopharyngeal carcinoma (NPCA) is a malignant tumor that emerges from the epithelium of the nasopharynx. It has a high incidence in southern China, and evidence suggests that there may be a genetic component that underlies familial clustering. Some patients have onset before 20 years of age (summary by Dai et al., 2016)
For a general phenotypic description and a discussion of genetic heterogeneity of susceptibility to nasopharyngeal carcinoma, see NPCA1 (607107).|OMIM|N|
C4310730|Any tooth agenesis in which the cause of the disease is a mutation in the WNT10B gene.|MONDO|N|
C4310733|Autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions-4 (PEOB4) is characterized by adult onset of eye muscle weakness and proximal limb muscle weakness associated with deletions of mtDNA on skeletal muscle biopsy, which results from defective mtDNA replication in post-mitotic muscle tissue. Additional features are more variable (summary by Ronchi et al., 2012).
For a discussion of genetic heterogeneity of autosomal recessive PEO, see PEOB1 (258450).|OMIM|N|
C4310734|Any autosomal recessive progressive external ophthalmoplegia in which the cause of the disease is a mutation in the TK2 gene.|MONDO|N|
C4310736|A rare congenital muscular dystrophy characterised by neonatal hypotonia, life-threatening respiratory failure and feeding difficulties, furthermore by delayed motor development, severe muscle weakness predominantly affecting axial muscles (leading to poor head control, rigid cervical spine, and severe scoliosis), generalised joint laxity with no or mild contractures, as well as dry skin with follicular hyperkeratosis. Serum creatine kinase is normal or slightly elevated. Muscle biopsy shows fibre size variability, rounded fibres with mild increase of endomysial connective tissue and adipose replacement, abundant minicore lesions, increase of centrally located nuclei, angular fibres and cap lesions.|SNOMEDCT_US|N|
C4310737|Developmental and epileptic encephalopathy-40 (DEE40) is an autosomal recessive neurologic disorder characterized by the onset of refractory infantile spasms within the first 6 months of life. Affected infants may have normal or mildly delayed development before the onset of seizures, but thereafter show developmental stagnation and severe neurologic impairment. EEG typically shows hypsarrhythmia, consistent with a clinical diagnosis of West syndrome. Additional features include poor feeding, axial hypotonia with peripheral spasticity, limited eye contact, profoundly impaired intellectual development with absent language, and poor fine motor skills (summary by Alfaiz et al., 2016).
For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350.|OMIM|N|
C4310738|Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the CDC45 gene.|MONDO|N|
C4310739|Individuals with Okur-Chung neurodevelopmental syndrome (OCNDS) frequently have nonspecific clinical features, delayed language development, motor delay, intellectual disability (typically in the mild-to-moderate range), generalized hypotonia starting in infancy, difficulty feeding, and nonspecific dysmorphic facial features. Developmental delay affects all areas of development, but language is more impaired than gross motor skills in most individuals. Intellectual disability has been reported in about three quarters of individuals. Less common findings may include kyphoscoliosis, postnatal short stature, disrupted circadian rhythm leading to sleep disturbance, seizures, and poor coordination.|GeneReviews|N|
C4310740|TRIO-related intellectual disability (ID) is characterized by delay in acquisition of motor and language skills, mild to borderline intellectual disability, and neurobehavioral problems (including autistic traits or autism spectrum disorder, attention-deficit/hyperactivity disorder, and/or aggression). Neonatal or infantile feeding difficulties including poor suck, impaired bottle feeding, and failure to thrive are common and are often the presenting finding. Other findings can include microcephaly, variable hand and dental abnormalities, and suggestive facial features. Only ten of the 20 individuals with a TRIO pathogenic variant reported to date had sufficient information to make preliminary generalizations about clinical manifestations; it is anticipated that the phenotype of this newly described disorder will continue to evolve.|GeneReviews|N|
C4310741|Autosomal dominant tubulointerstitial kidney disease-5 (ADTKD5) is characterized by the onset of progressive chronic renal disease in the first decades of life. Mild hyperuricemia may be present, but gout, hypertension, and proteinuria are usually absent. The disease may be associated with anemia or neutropenia. Some patients may have additional findings, including poor overall growth and impaired cognitive function. Renal biopsy shows tubulointerstitial abnormalities with atrophic tubules and fibrosis; secondary glomerular abnormalities and simple cysts may also be present (summary by Bolar et al., 2016).
For a discussion of genetic heterogeneity and revised nomenclature of ADTKD, see ADTKD1 (162000).|OMIM|N|
C4310742|PERCHING syndrome is an autosomal recessive multisystem disorder characterized by global developmental delay, dysmorphic facial features, feeding and respiratory difficulties with poor overall growth, axial hypotonia, and joint contractures. The features are variable, even within families, and may also include retinitis pigmentosa, cardiac or genitourinary anomalies, and abnormal sweating. Each letter of the PERCHING acronym represents 2 important phenotypic elements: Postural and Palatal abnormalities; Exophthalmos and Enteral-tube dependency/feeding issues; Respiratory distress and Retinitis pigmentosa; Contractures and Camptodactyly; Hypertelorism and Hirsutism; Intrauterine growth retardation (IUGR)/growth failure and Intellectual disability/developmental delay; Nevus flammeus and Neurologic malformations; and facial Gestalt/grimacing and Genitourinary abnormalities (Jeffries et al., 2019). Death in infancy or early childhood often occurs, although survival to the third decade has been reported. Some of the features, such as contractures, dysmorphic craniofacial features, and severe feeding difficulties, are reminiscent of Bohring-Opitz syndrome (605039) (summary by Kanthi et al., 2019 and Buers et al., 2020).|OMIM|N|
C4310743|A rare genetic neurodegenerative disease with characteristics of sudden onset of progressive motor deterioration and regression of developmental milestones. Manifestations include dystonia and muscle spasms, dysphagia, dysarthria, and eventually loss of speech and ambulation. Brain MRI shows predominantly striatal abnormalities. The disease is potentially associated with a fatal outcome.|SNOMEDCT_US|N|
C4310744|Bone marrow failure syndrome-3 is an autosomal recessive disorder characterized by onset of pancytopenia in early childhood. Patients may have additional variable nonspecific somatic abnormalities, including poor growth, microcephaly, and skin anomalies (summary by Tummala et al., 2016).
BMFS3 has a distinct phenotype and may include features that overlap with Shwachman-Diamond syndrome (SDS1; 260400), such as pancreatic insufficiency and short stature, and with dyskeratosis congenita (see, e.g., DKCA1, 127550), such as dental and hair abnormalities and shortened telomeres. In addition, some patients may have joint and skeletal abnormalities, impaired development, and retinal dysplasia (summary by D'Amours et al., 2018).
For a discussion of genetic heterogeneity of BMFS, see BMFS1 (614675).|OMIM|N|
C4310745|Neurodevelopmental disorder with microcephaly and gray sclerae (NEDMIGS) is a severe autosomal recessive disorder characterized by impaired global development with hypotonia often precluding independent ambulation, profoundly impaired intellectual development with poor or absent language, mild microcephaly, and abnormal visual fixation. Patients also have gray sclerae and may have coarse facial features. Most affected individuals have seizures; some may have brain imaging abnormalities (summary by Shaheen et al., 2016 and Froukh et al., 2020).|OMIM|N|
C4310746|Hermansky-Pudlak syndrome (HPS) is characterized by oculocutaneous albinism, a bleeding diathesis, and, in some individuals, pulmonary fibrosis, granulomatous colitis, or immunodeficiency. Ocular findings include reduced iris pigment with iris transillumination, reduced retinal pigment, foveal hypoplasia with significant reduction in visual acuity (usually in the range of 20/50 to 20/400), nystagmus, and increased crossing of the optic nerve fibers. Hair color ranges from white to brown; skin color ranges from white to olive and is usually a shade lighter than that of other family members. The bleeding diathesis can result in variable bruising, epistaxis, gingival bleeding, postpartum hemorrhage, colonic bleeding, and prolonged bleeding with menses or after tooth extraction, circumcision, and other surgeries. Pulmonary fibrosis, a restrictive lung disease, typically causes symptoms in the early thirties and can progress to death within a decade. Granulomatous colitis is severe in about 15% of affected individuals. Neutropenia and/or immune defects occur primarily in individuals with pathogenic variants in AP3B1 and AP3D1.|GeneReviews|N|
C4310747|Progressive familial intrahepatic cholestasis-5 (PFIC5) is an autosomal recessive severe liver disorder characterized by onset of intralobular cholestasis in the neonatal period. The disease is rapidly progressive, leading to liver failure and death if liver transplant is not performed. Other features include abnormal liver enzymes, low to normal gamma-glutamyl transferase (GGT) activity, increased alpha-fetoprotein, and a vitamin K-independent coagulopathy (summary by Gomez-Ospina et al., 2016).
For a general phenotypic description and a discussion of genetic heterogeneity of PFIC, see PFIC1 (211600).|OMIM|N|
C4310748|An autosomal dominant condition caused by mutation(s) in the FLNC gene, encoding filamin-C. It is characterized by restrictive cardiomyopathy in the context of normal contractility, left ventricular wall thickness and systolic function.|NCI|N|
C4310749|Familial cardiomyopathy caused by mutation in the FLNC gene has been described as hypertrophic, restrictive, dilated, or arrhythmogenic right ventricular cardiomyopathy. Affected individuals, especially those with dilated cardiomyopathy, are at risk for arrhythmias and sudden death. Arrhythmias without cardiomyopathy, and left ventricular noncompaction, have also been reported (Ortiz-Genga et al., 2016; Verdonschot et al., 2020).|OMIM|N|
C4310752|Duane syndrome is a strabismus condition clinically characterized by congenital non-progressive limited horizontal eye movement accompanied by globe retraction which results in narrowing of the palpebral fissure. The lateral movement anomaly results from failure of the abducens nucleus and nerve (cranial nerve VI) to fully innervate the lateral rectus muscle; globe retraction occurs as a result of abnormal innervation of the lateral rectus muscle by the oculomotor nerve (cranial nerve III). At birth, affected infants have restricted ability to move the affected eye(s) outward (abduction) and/or inward (adduction), though the limitations may not be recognized in early infancy. In addition, the globe retracts into the orbit with attempted adduction, accompanied by narrowing of the palpebral fissure. Many individuals with Duane syndrome have strabismus in primary gaze but can use a compensatory head turn to align the eyes, and thus can preserve binocular vision and avoid diplopia. Individuals with Duane syndrome who lack binocular vision are at risk for amblyopia. The majority of affected individuals with Duane syndrome have isolated Duane syndrome (i.e., they do not have other detected congenital anomalies). Other individuals with Duane syndrome fall into well-defined syndromic diagnoses. However, many individuals with Duane syndrome have non-ocular findings that do not fit a known syndrome; these individuals are included as part of the discussion of nonsyndromic Duane syndrome.|GeneReviews|N|
C4310753|The ductus arteriosus is a vital in utero vascular connection between the aorta and pulmonary artery that allows right ventricular output to bypass the nonventilated fetal lungs. Postnatal closure of the ductus arteriosus is an important step in normal cardiopulmonary transition. Failure of ductal closure results in patent ductus arteriosus (PDA), which occurs in approximately 2 to 8 per 10,000 term infants and constitutes 5% to 7% of all congenital heart defects (summary by Hajj and Dagle, 2012).
For a discussion of genetic heterogeneity of isolated PDA, see PDA1 (607411).|OMIM|N|
C4310755|Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the TNIK gene.|MONDO|N|
C4310757|Pontocerebellar hypoplasia type 2F (PCH2F) is an autosomal recessive neurodevelopmental disorder characterized by progressive microcephaly and variable neurologic signs and symptoms, including cognitive and motor delay, poor or absent speech, seizures, and spasticity (summary by Breuss et al., 2016).
For a general phenotypic description and a discussion of genetic heterogeneity of pontocerebellar hypoplasia type 2, see PCH2A (277470).|OMIM|N|
C4310758|Congenital stationary night blindness type 1H (CSNB1H) is an unusual and unique stationary retinal disorder with a dual anomaly in visual processing, characterized by a partial or severe degree of ON bipolar dysfunction and variably reduced cone sensitivity. Patients present with childhood-onset night blindness and middle age-onset photophobia, but have near-normal vision and do not exhibit nystagmus or high myopia (Vincent et al., 2016).
For a general phenotypic description and a discussion of genetic heterogeneity of congenital stationary night blindness, see CSNB1A (310500).|OMIM|N|
C4310759|Any retinitis pigmentosa in which the cause of the disease is a mutation in the AGBL5 gene.|MONDO|N|
C4310761|Hydrops, lactic acidosis, and sideroblastic anemia (HLASA) is an autosomal recessive multisystem disorder characterized by the onset of hydrops in utero. The severity of the hydrops and the disorder in general is highly variable. At birth, affected infants usually show poor growth, lactic acidosis, pulmonary hypertension with hypoxic respiratory insufficiency, and sideroblastic anemia. More variable features may include hepatosplenomegaly or cholestasis, hypoglycemia, pancreatic insufficiency, and micropenis or hypospadias. Death in infancy may occur. Those who survive tend to have resolution of lactic acidosis and anemia, but may show developmental delay and sensorineural deafness (summary by Riley et al., 2020).|OMIM|N|
C4310762|Developmental and epileptic encephalopathy-38 (DEE38) is an autosomal recessive neurologic and neurodegenerative disorder characterized by the onset of various type of seizures usually between about 4 and 7 months of age. Prior to the onset of seizures, most infants show severely impaired global development, hypotonia with poor head control, and visual inattention with roving eye movements and nystagmus. Seizures are usually refractory to treatment and associated with status epilepticus. Patients have little or no development with inability to walk or speak, spasticity or abnormal movements, and often cortical blindness. There is failure to thrive, and many require tube-feeding. Death in early childhood due to aspiration or intractable epilepsy may occur. The disorder is associated with a defect in GPI-anchoring of membrane-bound proteins (summary by Palmer et al., 2016; Davids et al., 2020).
For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350.
For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (610293).|OMIM|N|
C4310763|Spinocerebellar ataxia-43 is an autosomal dominant, slowly progressive neurologic disorder characterized by adult-onset gait and limb ataxia and often associated with peripheral neuropathy mainly affecting the motor system, although some patients may have distal sensory impairment (summary by Depondt et al., 2016).
For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (164400).|OMIM|N|
C4310764|Severe congenital neutropenia-7 is an autosomal recessive immunodeficiency characterized by onset of recurrent infections in infancy or early childhood. Patients have peripheral neutropenia, although bone marrow biopsy shows normal granulocyte maturation. The neutropenia is not responsive to treatment with G-CSF, but may be responsive to GM-CSF (summary by Triot et al., 2014 and Klimiankou et al., 2015).
For a general phenotypic description and a discussion of genetic heterogeneity of severe congenital neutropenia, see SCN1 (202700).|OMIM|N|
C4310765|SLC39A14 deficiency is characterized by evidence between ages six months and three years of delay or loss of motor developmental milestones (e.g., delayed walking, gait disturbance). Early in the disease course, children show axial hypotonia followed by dystonia, spasticity, dysarthria, bulbar dysfunction, and signs of parkinsonism including bradykinesia, hypomimia, and tremor. By the end of the first decade they develop severe, generalized, pharmaco-resistant dystonia, limb contractures, and scoliosis, and lose independent ambulation. Cognitive impairment appears to be less prominent than motor disability. Some affected children have succumbed in their first decade due to secondary complications such as respiratory infections.|GeneReviews|N|
C4310766|Macrocephaly, dysmorphic facies, and psychomotor retardation (MDFPMR) is an autosomal recessive neurodevelopmental disorder characterized by large head and somatic overgrowth apparent at birth followed by global developmental delay. Affected individuals have characteristic dysmorphic facial features and persistently large head, but increased birth weight normalizes with age. Additional neurologic features, including seizures, hypotonia, and gait ataxia, may also occur. Patients show severe intellectual impairment (summary by Ortega-Recalde et al., 2015).|OMIM|N|
C4310767|Any spastic quadriplegia in which the cause of the disease is a mutation in the ADD3 gene.|NCBI curation|N|
C4310768|Any autoimmune disease, multisystem, infantile-onset in which the cause of the disease is a mutation in the ZAP70 gene.|MONDO|N|
C4310769|PCLD2 is an autosomal dominant disease characterized by the presence of multiple liver cysts resulting from structural changes in the biliary tree during development. Abnormal biliary structures may be present early in life, but they usually remain asymptomatic until cyst growth initiates during adulthood. In advanced stages, patients may develop massively enlarged livers, which cause a spectrum of clinical features and complications. Genetic studies suggest that an accumulation of somatic hits in cyst epithelium determines the rate of cyst formation. A subset of patients (28-35%) may develop kidney cysts that are usually incidental findings and do not result in clinically significant renal disease (review by Cnossen and Drenth, 2014).
For a discussion of genetic heterogeneity of polycystic liver disease, see PCLD1 (174050).|OMIM|N|
C4310770|Developmental and epileptic encephalopathy-37 (DEE37) is an autosomal recessive epileptic-dyskinetic neurologic disorder characterized by the onset of intractable seizures or abnormal movements in the first months or years of life. Patients typically have normal or only mildly delayed development in early infancy, but then show developmental regression and stagnation after the onset of seizures, which can occur between about 6 months to 2 years of age. In addition to epileptic encephalopathy, affected individuals also manifest a hyperkinetic movement disorder with choreoathetosis, spasticity, and rigidity. There is severely impaired intellectual development and function, loss of verbal skills with absent speech, and impaired volitional movements (summary by Madeo et al., 2016).
For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350.|OMIM|N|
C4310771|HIVEP2-related intellectual disability is a neurological disorder characterized by moderate to severe developmental delay and intellectual disability and mild physical abnormalities (dysmorphic features). Early symptoms of the condition include weak muscle tone (hypotonia) and delayed development of motor skills, such as sitting, standing, and walking. After learning to walk, many affected individuals continue to have difficulty with this activity; their walking style (gait) is often unbalanced and wide-based. Speech is also delayed, and some people with this condition never learn to talk. Most people with HIVEP2-related intellectual disability also have unusual physical features, such as widely spaced eyes (hypertelorism), a broad nasal bridge, or fingers with tapered ends, although there is no characteristic pattern of such features among affected individuals. Many people with the condition exhibit neurodevelopmental disorders, such as hyperactivity, attention deficit disorder, aggression, anxiety, and autism spectrum disorder, which is a group of developmental disorders characterized by impaired communication and social interaction.\n\nOther features of HIVEP2-related intellectual disability include mild abnormalities in the structure of the brain and an abnormally small brain and head size (microcephaly). Less common health problems include seizures; recurrent ear infections; and eye disorders, such as eyes that do not look in the same direction (strabismus), "lazy eye" (amblyopia), and farsightedness (hyperopia). Some people with HIVEP2-related intellectual disability have gastrointestinal problems, which can include backflow of acidic stomach contents into the esophagus (gastroesophageal reflux) and constipation.|MedlinePlus Genetics|N|
C4310772|RERE-related disorders are characterized by neurodevelopmental problems with or without structural anomalies of the eyes, heart, kidneys, and genitourinary tract and mild sensorineural hearing loss. Hypotonia and feeding problems are common among affected individuals. Developmental delay and intellectual disability range from mild to profound. Behavior problems may include attention-deficit/hyperactivity disorder, self-injurious behavior, and autism spectrum disorder. A variety of eye anomalies (coloboma, optic nerve anomalies, microphthalmia, and/or Peter's anomaly) and vision issues (myopia, anisometropia, astigmatism, exotropia, esotropia) have been reported. Congenital heart defects, most commonly septal defects, have also been described. Genitourinary abnormalities include vesicoureteral reflux, and cryptorchidism and hypospadias in males. Sensorineural hearing loss can be unilateral or bilateral.|GeneReviews|N|
C4310774|GNB1 encephalopathy (GNB1-E) is characterized by moderate-to-severe developmental delay / intellectual disability, structural brain abnormalities, and often infantile hypotonia and seizures. Other less common findings include dystonia, reduced vision, behavior issues, growth delay, gastrointestinal (GI) problems, genitourinary (GU) abnormalities in males, and cutaneous mastocytosis.|GeneReviews|N|
C4310775|Autosomal dominant deafness-70 is a form of nonsyndromic sensorineural hearing loss. Hearing impairment shows postlingual onset and is slowly progressive (Gao et al., 2015).|OMIM|N|
C4310776|TRNT1 deficiency encompasses what was first thought to be two separate disorders, a severe disorder called sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD) and a milder disorder called retinitis pigmentosa with erythrocytic microcytosis (RPEM), each named for its most common features. SIFD begins in infancy, and affected individuals usually do not survive past childhood. RPEM, on the other hand, is recognized in early adulthood, and the microcytosis usually does not cause any health problems. However, it has since been recognized that some individuals have a combination of features that fall between these two ends of the severity spectrum. All of these cases are now considered part of TRNT1 deficiency.\n\nEye abnormalities, often involving the light-sensing tissue at the back of the eye (the retina), can occur in people with TRNT1 deficiency. Some of these individuals have a condition called retinitis pigmentosa, in which the light-sensing cells of the retina gradually deteriorate. Eye problems in TRNT1 deficiency can lead to vision loss.\n\nIn addition, many individuals with TRNT1 deficiency have recurrent fevers that are not caused by an infection. These fever episodes are often one of the earliest recognized symptoms of TRNT1 deficiency, usually beginning in infancy. The fever episodes are typically accompanied by poor feeding, vomiting, and diarrhea, and can lead to hospitalization. In many affected individuals, the episodes occur regularly, arising approximately every 2 to 4 weeks and lasting 5 to 7 days, although the frequency can decrease with age.\n\nMany people with TRNT1 deficiency have an immune system disorder (immunodeficiency) that can lead to recurrent bacterial infections. Repeated infections can cause life-threatening damage to internal organs. The immunodeficiency is characterized by low numbers of immune system cells called B cells, which normally help fight infections by producing immune proteins called antibodies (or immunoglobulins). These proteins target foreign invaders such as bacteria and viruses and mark them for destruction. In many individuals with TRNT1 deficiency, the amount of immunoglobulins is also low (hypogammaglobulinemia).\n\nA common feature of TRNT1 deficiency is a blood condition called sideroblastic anemia, which is characterized by a shortage of red blood cells (anemia). In TRNT1 deficiency, the red blood cells that are present are unusually small (erythrocytic microcytosis). In addition, developing red blood cells in the bone marrow (erythroblasts) can have an abnormal buildup of iron that appears as a ring of blue staining in the cell after treatment in the lab with certain dyes. These abnormal cells are called ring sideroblasts.\n\nFeatures that occur less commonly in people with TRNT1 deficiency include hearing loss caused by abnormalities of the inner ear (sensorineural hearing loss), recurrent seizures (epilepsy), and problems with the kidneys or heart.\n\nNeurological problems are also frequent in TRNT1 deficiency. Many affected individuals have delayed development of speech and motor skills, such as sitting, standing, and walking, and some have low muscle tone (hypotonia).\n\nTRNT1 deficiency is a condition that affects many body systems. Its signs and symptoms can involve blood cells, the immune system, the eyes, and the nervous system. The severity of the signs and symptoms vary widely.|MedlinePlus Genetics|N|
C4310778|A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of global developmental delay and intellectual disability, infantile hypotonia, microcephaly, movement disorder and impaired balance. Variable manifestations include hearing loss, cortical visual impairment, abnormalities of fingers and/or toes, congenital cardiac anomalies, kyphoscoliosis, dysmorphic facial features, abnormal sleep pattern and seizures.|SNOMEDCT_US|N|
C4310779|Any azoospermia in which the cause of the disease is a mutation in the SYCE1 gene.|MONDO|N|
C4310781|Any autosomal recessive cerebellar ataxia in which the cause of the disease is a mutation in the VWA3B gene.|MONDO|N|
C4310782|Any primary ovarian failure in which the cause of the disease is a mutation in the SYCE1 gene.|MONDO|N|
C4310783|Premature ovarian failure-11 (POF11) is characterized by secondary amenorrhea and hypergonadotropic ovarian insufficiency, with elevated serum follicle-stimulating hormone (FSH; see 136530) levels before age 40 years (Qin et al., 2015).
For a general phenotypic description and discussion of genetic heterogeneity of premature ovarian failure, see POF1 (311360).|OMIM|N|
C4310784|Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the TBL1XR1 gene.|MONDO|N|
C4310785|About half of all people with trichothiodystrophy have a photosensitive form of the disorder, which causes them to be extremely sensitive to ultraviolet (UV) rays from sunlight. They develop a severe sunburn after spending just a few minutes in the sun. However, for reasons that are unclear, they do not develop other sun-related problems such as excessive freckling of the skin or an increased risk of skin cancer. Many people with trichothiodystrophy report that they do not sweat.\n\nTrichothiodystrophy is also associated with recurrent infections, particularly respiratory infections, which can be life-threatening. People with trichothiodystrophy may have abnormal red blood cells, including red blood cells that are smaller than normal. They may also have elevated levels of a type of hemoglobin called A2, which is a protein found in red blood cells. Other features of trichothiodystrophy can include dry, scaly skin (ichthyosis); abnormalities of the fingernails and toenails; clouding of the lens in both eyes from birth (congenital cataracts); poor coordination; and skeletal abnormalities including degeneration of both hips at an early age.\n\nIntellectual disability and delayed development are common in people with trichothiodystrophy, although most affected individuals are highly social with an outgoing and engaging personality. Some people with trichothiodystrophy have brain abnormalities that can be seen with imaging tests. A common neurological feature of this disorder is impaired myelin production (dysmyelination). Myelin is a fatty substance that insulates nerve cells and promotes the rapid transmission of nerve impulses.\n\nMothers of children with trichothiodystrophy may experience problems during pregnancy including pregnancy-induced high blood pressure (preeclampsia) and a related condition called HELLP syndrome that can damage the liver. Babies with trichothiodystrophy are at increased risk of premature birth, low birth weight, and slow growth. Most children with trichothiodystrophy have short stature compared to others their age. \n\nThe signs and symptoms of trichothiodystrophy vary widely. Mild cases may involve only the hair. More severe cases also cause delayed development, significant intellectual disability, and recurrent infections; severely affected individuals may survive only into infancy or early childhood.\n\nIn people with trichothiodystrophy, tests show that the hair is lacking sulfur-containing proteins that normally gives hair its strength. A cross section of a cut hair shows alternating light and dark banding that has been described as a "tiger tail."\n\nTrichothiodystrophy, commonly called TTD, is a rare inherited condition that affects many parts of the body. The hallmark of this condition is hair that is sparse and easily broken. |MedlinePlus Genetics|N|
C4310786|Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the TCF3 gene.|MONDO|N|
C4310788|Coffin-Siris syndrome is a rare congenital disorder characterized by delayed psychomotor development, intellectual disability, coarse facial features, and hypoplasia of the distal phalanges, particularly the fifth digit. Other features may also be observed, including congenital heart defects, hypoplasia of the corpus callosum, and poor overall growth with short stature and microcephaly (summary by Wieczorek et al., 2013). Patients with SMARCE1 mutations have a wide spectrum of manifestations, including severe to moderate intellectual disability and heart defects (summary by Kosho et al., 2014).
For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (135900).|OMIM|N|
C4310789|Thrombocytopenia-6 is an autosomal dominant hematologic disorder characterized by increased bleeding episodes due to reduced platelet count and abnormal platelet morphology resulting from defective megakaryopoiesis. Patients may also have bone abnormalities, including osteoporosis or tooth loss, as well as an increased risk for myelofibrosis (summary by Turro et al., 2016).
For a general phenotypic description and a discussion of genetic heterogeneity of thrombocytopenia, see 313900.|OMIM|N|
C4310790|Axonal Charcot-Marie-Tooth disease type 2CC is an autosomal dominant peripheral neuropathy that predominantly affects the lower limbs, resulting in muscle weakness and atrophy and gait impairment. Other features include distal sensory impairment and less severe involvement of the upper limbs. The age at onset and severity are variable (summary by Rebelo et al., 2016).
For a phenotypic description and a discussion of genetic heterogeneity of axonal CMT type 2, see CMT2A (118210).|OMIM|N|
C4310791|Autosomal dominant striatal degeneration-2 is a neurologic disorder characterized by hyperkinetic movements, mainly chorea, resulting from dysfunction of the basal ganglia. Although symptoms appear in the first decade, the disorder is not progressive (summary by Mencacci et al., 2016).
For a discussion of genetic heterogeneity of ADSD, see ADSD1 (609161).|OMIM|N|
C4310793|Heart and brain malformation syndrome (HBMS) is a severe autosomal recessive multiple congenital anomaly syndrome characterized by profoundly delayed psychomotor development, dysmorphic facial features, microphthalmia, cardiac malformations, mainly septal defects, and brain malformations, including Dandy-Walker malformation (summary by Shaheen et al., 2016).
Homozygous mutation in the SMG9 gene can also cause neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies (NEDITPDO; 619995), a less severe neurodevelopmental disorder.|OMIM|N|
C4310794|Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy (NEDHSCA) is an autosomal recessive disorder characterized by severely delayed psychomotor development, hypotonia apparent since infancy, and early-onset seizures in most patients. Some patients may have additional features, such as cerebellar atrophy, ataxia, and nonspecific dysmorphic features. NEDHSCA is one of a group of similar neurologic disorders resulting from biochemical defects in the glycosylphosphatidylinositol (GPI) biosynthetic pathway. Some patients with NEDHSCA may have the Emm-null blood group phenotype (see 619812) (summary by Makrythanasis et al., 2016; Duval et al., 2021).
For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (610293).|OMIM|N|
C4310796|The marfanoid-progeroid-lipodystrophy syndrome (MFLS) is characterized by congenital lipodystrophy, premature birth with an accelerated linear growth disproportionate to weight gain, and progeroid appearance with distinct facial features, including proptosis, downslanting palpebral fissures, and retrognathia. Other characteristic features include arachnodactyly, digital hyperextensibility, myopia, dural ectasia, and normal psychomotor development (Takenouchi et al., 2013).
Takenouchi et al. (2013) noted phenotypic overlap with Marfan syndrome (154700) and Shprintzen-Goldberg craniosynostosis syndrome (182212).|OMIM|N|
C4310797|A rare isolated constitutional thrombocytopenia characterized by reduced platelet count and defective platelet ATP secretion, resulting in increased bleeding tendency. Clinical manifestations are easy bruising, gum bleeding, menorrhagia, spontaneous epistaxis, spontaneous muscle hematoma, and potential postpartum hemorrhage, among others.|ORDO|N|
C4310798|Immunodeficiency-centromeric instability-facial anomalies syndrome-4 is an autosomal recessive disorder characterized by recurrent infections in childhood and variable dysmorphic facial features. Laboratory studies show hypomethylation of certain chromosomal regions. Additional features, including delayed development, are variable (summary by Thijssen et al., 2015).
For a discussion of genetic heterogeneity of immunodeficiency-centromeric instability-facial anomalies syndrome, see ICF1 (242860).|OMIM|N|
C4310799|Immunodeficiency-centromeric instability-facial anomalies syndrome-3 is an autosomal recessive disorder characterized by recurrent infections in childhood and variable dysmorphic facial features. Laboratory studies show hypomethylation of certain chromosomal regions. Additional features, including delayed development, are variable (summary by Thijssen et al., 2015).
For a discussion of genetic heterogeneity of immunodeficiency-centromeric instability-facial anomalies syndrome, see ICF1 (242860).|OMIM|N|
C4310801|A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of craniofacial dysmorphism (including an abnormal skull shape, hypertelorism, downslanting palpebral fissures, epicanthal folds, low-set ears, depressed nasal bridge, micrognathia), short stature, ectodermal anomalies (such as sparse eyebrows, eyelashes, and scalp hair, hypoplastic toenails), developmental delay, and intellectual disability. Additional features may include cerebral/cerebellar malformations and mild renal involvement.|SNOMEDCT_US|N|
C4310803|Immunodeficiency-51 (IMD51) is an autosomal recessive primary immune deficiency that is usually characterized by onset of chronic mucocutaneous candidiasis in the first years of life. Most patients also show recurrent Staphylococcal skin infections, and may show increased susceptibility to chronic bacterial respiratory infections. Patient cells show a lack of cellular responses to stimulation with certain IL17 isoforms, including IL17A (603149), IL17F (606496), IL17A/F, and IL17E (IL25; 605658) (summary by Levy et al., 2016).|OMIM|N|
C4310804|Witteveen-Kolk syndrome (WITKOS) is an autosomal dominant disorder with characteristic distinctive facial features, microcephaly, short stature, and mildly impaired intellectual development with delayed cognitive and motor development and subtle anomalies on MRI-brain imaging (summary by Balasubramanian et al., 2021).|OMIM|N|
C4310805|Bartter syndrome refers to a group of disorders that are unified by autosomal recessive transmission of impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and hypercalciuria. Clinical disease results from defective renal reabsorption of sodium chloride in the thick ascending limb (TAL) of the Henle loop, where 30% of filtered salt is normally reabsorbed (Simon et al., 1997).
Patients with antenatal (or neonatal) forms of Bartter syndrome (e.g., BARTS1, 601678) typically present with premature birth associated with polyhydramnios and low birth weight and may develop life-threatening dehydration in the neonatal period. Patients with classic Bartter syndrome present later in life and may be sporadically asymptomatic or mildly symptomatic (summary by Simon et al., 1996 and Fremont and Chan, 2012).
For a discussion of genetic heterogeneity of Bartter syndrome, see 607364.|OMIM|N|
C4310806|Juvenile cataract - microcornea - renal glucosuria is an extremely rare autosomal dominant association reported in a single Swiss family and characterized clinically by juvenile cataract associated with bilateral microcornea, and renal glucosuria without other renal tubular defects.|ORDO|N|
C4310808|Autosomal dominant striatal degeneration is a neurologic disorder characterized by variable movement abnormalities due to dysfunction in the striatal part of the basal ganglia (summary by Kuhlenbaumer et al., 2004).
Genetic Heterogeneity of Autosomal Dominant Striatal Degeneration
See also ADSD2 (616922), caused by mutation in the PDE10A gene (610652) on chromosome 6q27.|OMIM|N|
C4310810|Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis is an X-linked recessive disorder with onset of features in early childhood. Anemia is sometimes present. Some patients may show mild early motor or speech delay, but cognition is normal (summary by Andreoletti et al., 2017).|OMIM|N|
C4310811|Meester-Loeys syndrome (MRLS) is an X-linked disorder characterized by early-onset aortic aneurysm and dissection. Other recurrent findings include hypertelorism, pectus deformity, joint hypermobility, contractures, and mild skeletal dysplasia (Meester et al., 2017).|OMIM|N|
C4310814|Most individuals with HNRNPH2-related neurodevelopmental disorder (HNRNPH2-NDD) have symptoms early in life, before age 12 months. The major features of HNRNPH2-NDD are developmental delay / intellectual disability, motor and language delays, behavioral and psychiatric disorders, and growth and musculoskeletal abnormalities. Minor features include dysmorphic facies, gastrointestinal disturbances, epilepsy, and visual defects. Although HNRNPH2-NDD is an X-linked condition, there is not enough information on affected females versus affected males to make any generalizations about phenotypic differences between the two sexes.|GeneReviews|N|
C4310815|Congenital bilateral absence of the vas deferens (CBAVD) is found in more than 25% of men with obstructive azoospermia, involving a complete or partial defect of the Wolffian duct derivatives. In 80% of men with CBAVD (see 277180), mutations are identified in the CFTR gene (602421). The forms caused by mutations in the CFTR and ADGRG2 genes are clinically indistinguishable (summary by Patat et al., 2016).|OMIM|N|
C4310816|X-linked intellectual developmental disorder-105 (XLID105) is characterized by different combinations of impaired intellectual development, developmental delay, autism spectrum disorder, ADHD, and anxiety. Some patients have ophthalmologic abnormalities (summary by Koch et al., 2024).|OMIM|N|
C4310817|Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the FRMPD4 gene.|MONDO|N|
C4310818|Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the KLHL15 gene.|MONDO|N|
C4310819|Immunodeficiency-47 (IMD47) is an X-linked recessive complex syndrome characterized by liver dysfunction, recurrent bacterial infections, hypogammaglobulinemia, and defective glycosylation of serum proteins. Some patients also have neurologic abnormalities (summary by Jansen et al., 2016).|OMIM|N|
C4310820|Antenatal Bartter syndrome is a potentially life-threatening disease characterized by fetal polyuria, polyhydramnios, prematurity, and postnatal polyuria with persistent renal salt wasting. In transient antenatal Bartter syndrome-5, the onset of polyhydramnios and labor occur several weeks earlier than in other forms of Bartter syndrome. Polyuria lasts from a few days to 6 weeks, ending around 30 to 33 weeks of gestational age. Other features in the neonatal period include hypercalciuria, causing nephrocalcinosis in some cases, as well as hyponatremia, hypokalemia, and elevated renin and aldosterone; these subsequently resolve or normalize, although nephrocalcinosis may persist (Laghmani et al., 2016).|OMIM|N|
C4310821|Inherited abnormalities in the level of serum TBG have been classified as complete deficiency (TBG-CD), partial deficiency (TBG-PD), and excess (TBG-E). Patients are euthyroid (summary by Mori et al., 1995).|OMIM|N|
C4310822|Lipid storage myopathy due to FLAD1 deficiency is an autosomal recessive inborn error of metabolism that includes variable mitochondrial dysfunction. The phenotype is extremely heterogeneous: some patients have a severe disorder with onset in infancy and cardiac and respiratory insufficiency resulting in early death, whereas others have a milder course with onset of muscle weakness in adulthood. Some patients show significant improvement with riboflavin treatment (summary by Olsen et al., 2016).|OMIM|N|
C4310833|BCL11A-related intellectual disability (BCL11A-ID) is characterized by developmental delay / intellectual disability of variable degree, neonatal hypotonia, microcephaly, distinctive but variable facial characteristics, behavior problems, and asymptomatic persistence of fetal hemoglobin. Growth delay, seizures, and autism spectrum disorder have also been reported in some affected individuals.|GeneReviews|N|
C4310943|GLYT1 encephalopathy is characterized in neonates by severe hypotonia, respiratory failure requiring mechanical ventilation, and absent neonatal reflexes; encephalopathy, including impaired consciousness and unresponsiveness, may be present. Arthrogryposis or joint laxity can be observed. Generalized hypotonia develops later into axial hypotonia with limb hypertonicity and a startle-like response to vocal and visual stimuli which should not be confused with seizures. To date, three of the six affected children reported from three families died between ages two days and seven months; the oldest reported living child is severely globally impaired at age three years. Because of the limited number of affected individuals reported to date, the phenotype has not yet been completely described.|GeneReviews|N|
C4311046|Proximal chromosome 19q13.11 deletion syndrome is an autosomal dominant neurodevelopmental disorder characterized by delayed development, intellectual disability with poor speech, feeding difficulties, and autistic features. Some patients may have additional features, including renal tract anomalies (summary by Caubit et al., 2016).|OMIM|N|
C4311048|Distal chromosome 19q13.11 deletion syndrome is an autosomal dominant neurodevelopmental disorder characterized by poor overall growth, slender habitus, microcephaly, delayed development, intellectual disability with poor or absent speech, and feeding difficulties. Additional features include dysmorphic facies, signs of ectodermal dysplasia, hand and foot anomalies, and genitourinary anomalies, particularly in males (summary by Chowdhury et al., 2014).|OMIM|N|
C4311049|Xq25 duplication syndrome is an X-linked neurodevelopmental disorder characterized by delayed development and intellectual disability associated with abnormal behavior and dysmorphic facial features. Additional variable features may include thin corpus callosum on brain imaging and sleep disturbances. Carrier females may be mildly affected (summary by Leroy et al., 2016).|OMIM|N|
C4313257|A type of spasticity that affects one or more limbs (arms or legs).|HPO|N|
C4313432|An increased concentration of sedoheptulose in the urine. Sedoheptulose is a monosaccharide with seven carbon atoms and a ketone functional group.|HPO|N|
C4313826|Neurons that contain more than one nucleus.|HPO|N|
C4314641|Lack of observable peroxisomes. This feature can be observed by immunohistochemical staining of cultured cells (such as fibroblasts) or by electronmicroscopy.|HPO|N|
C4315108|Limitation of motion of the jaw due to structural changes in a muscle such as the massseter responsible for jaw movement.|HPO|N|
C4315130|Partial or complete wasting (loss) of hippocampus tissue that was once present.|HPO|N|
C4315240|Death of bone tissue in a joint due to temporary or permanent interruption of blood flow.|NCI|N|
C4315392|Brachydactyly type E comprises one or more shortened metacarpals and metatarsals (summary by Johnson et al., 2003).
Another form of brachydactyly type E, BDE2 (613382), is caused by heterozygous mutation in the PTHLH gene (168470) on chromosome 12p11.
Also see the hypertension and brachydactyly syndrome (112410).|OMIM|N|
C4315867|A moderate form of myopia with refractive error of between -3.00 and -6.00 diopters.|HPO|N|
C4315963|A decrease in the amount of alveolar bone around the root of a tooth.|HPO|N|
C4315966|Gums that are easily damaged.|HPO|N|
C4315981|Darkening of the area of skin that overlies the shin.|HPO|N|
C4316658|A situation in which an individual works for himself or herself without receiving a paid salary or wage.CHAR(13)|HL7V3.0|N|
C4316659|A situation in which an individual earns a salary or wage working for himself or herself instead of working for an employer.CHAR(13)|HL7V3.0|N|
C4316787|A rare, primary bone dysplasia characterized by severe growth retardation, short stature, cortical thickening and medullary stenosis of long bones, delayed closure of the anterior fontanelle, absent diploic space in the skull bones, prominent forehead, macrocephaly, dental anomalies, eye problems (hypermetropia and pseudopapilledema), and hypocalcemia due to hypoparathyroidism, sometimes resulting in convulsions. Intelligence is normal.|ORDO|N|
C4316788|An abnormality of the intestine. The closely related term enteropathy is used to refer to any disease of the intestine.|HPO|N|
C4316789|Loss and redistribution of subcutaneous and/or visceral adipose tissue from specific regions of the body.|NCI|N|
C4316799|Multiple biliary hamartomas are a rare clinicopathologic entity, consisting of small (less than 1.5cm), usually multiple and nodular cystic lesions in the liver.|HPO|N|
C4316808|An ependymoma, not otherwise specified that arises from the cerebral hemispheres and occurs during childhood.|NCI|N|
C4316809|An embryonal tumor with multilayered rosettes, C19MC-altered that arises from the supratentorial brain and occurs in children.|NCI|N|
C4316811|An abnormality of the nasal septum.|HPO|N|
C4316812|A usually inherited blood coagulation disorder characterized by the partial or complete absence of fibrinogen in the blood, resulting in bleeding.|NCI|N|
C4316837|A usually aggressive malignant neoplasm arising from tooth-forming tissues. It more often affects older females and more frequently occurs in the mandible. It is characterized by the presence of malignant epithelial cells with clear cytoplasm and a fibrotic stroma formation. It may recur and metastasize. Metastases may occur in the lymph nodes, lungs, and bones. Treatment of choice is resection with clean margins.|NCI|N|
C4316870|Any abnormality of the eye, including location, spacing, and intraocular abnormalities.|HPO|N|
C4316878|This term refers to the loss of eyelashes that were previously present.|HPO|N|
C4316879|An accumulation of blood between the neurosensory retina and the retinal pigment epithelium (RPE) arising from the choroidal or retinal circulation.|HPO|N|
C4316895|An acute hypersensitivity reaction due to exposure to a previously encountered antigen.|HPO|N|
C4316897|An antiquated term indicating arthritis and bone loss.|NCI|N|
C4316899|Cystinosis comprises three allelic phenotypes: Nephropathic cystinosis in untreated children is characterized by renal Fanconi syndrome, poor growth, hypophosphatemic/calcipenic rickets, impaired glomerular function resulting in complete glomerular failure, and accumulation of cystine in almost all cells, leading to cellular dysfunction with tissue and organ impairment. The typical untreated child has short stature, rickets, and photophobia. Failure to thrive is generally noticed after approximately age six months; signs of renal tubular Fanconi syndrome (polyuria, polydipsia, dehydration, and acidosis) appear as early as age six months; corneal crystals can be present before age one year and are always present after age 16 months. Prior to the use of renal transplantation and cystine-depleting therapy, the life span in nephropathic cystinosis was no longer than ten years. With these interventions, affected individuals can survive at least into the mid-forties or fifties with satisfactory quality of life. Intermediate cystinosis is characterized by all the typical manifestations of nephropathic cystinosis, but onset is at a later age. Renal glomerular failure occurs in all untreated affected individuals, usually between ages 15 and 25 years. The non-nephropathic (ocular) form of cystinosis is characterized clinically only by photophobia resulting from corneal cystine crystal accumulation.|GeneReviews|N|
C4316903|A generalized non-motor (absence) seizure is a type of a type of dialeptic seizure that is of electrographically generalized onset. It is a generalized seizure characterized by an interruption of activities, a blank stare, and usually the person will be unresponsive when spoken to. Any ictal motor phenomena are minor in comparison to these non-motor features.|HPO|N|
C4316906|A coagulation disorder characterized by the partial or complete absence of factor XIII activity in the blood.|NCI|N|
C4316909|Medicinal or recreational utilization of MARIJUANA.|MSH|N|
C4316913|A group of diverse conditions that are characterized by spontaneous, multi-organ autoimmunity, which target both endocrine (adrenal, gonad, pancreatic islet cells, parathyroid, pituitary, thyroid) and non-endocrine (gastrointestinal, integumentary, lymphatic) tissues.|NCI|N|
C4316923|A giant cell tumor that arises from the bone and is characterized by the absence of local aggression and lack of metastatic potential.|NCI|N|
C4316944|A response indicating that an individual is confined to bed.|NCI|N|
C4316985|Swelling from fluid accumulation (serous fluid infiltration into the interstitial space) in the cerebellum.|HPO|N|
C4316995|A type of hypothyroidism that results from a defect in the thyroid gland.|HPO|N|
C4317009|Diseases of the DIVERTICULUM often due to infection and/or inflammation (DIVERTICULITIS).|MSH|N|
C4317043|Simpson-Golabi-Behmel syndrome is an X-linked condition characterized by pre- and postnatal overgrowth, coarse facies, congenital heart defects, and other congenital abnormalities (Xuan et al., 1999). It shows phenotypic similarities to Beckwith-Wiedemann syndrome (BWS; 130650), another overgrowth syndrome.
Genetic Heterogeneity of Simpson-Golabi-Behmel Syndrome
See Simpson-Golabi-Behmel syndrome type 2 (SGBS2; 300209), caused by mutation in the OFD1 gene (300170) on chromosome Xp22.|OMIM|N|
C4317045|A detrimental reaction to the presence of gluten in food, which may include abdominal pain, fatigue, headaches and paresthesia, or celiac disease.|HPO|N|
C4317067|An electrocardiographic finding of a pattern of right bundle branch block and ST-segment elevation within electrocardiogram leads V1-V3. This pattern emerges as a result of a defect in ion channel genes, resulting in atypical electrophysiological activity in the right ventricle and a propensity for malignant tachyarrhythmias.|NCI|N|
C4317089|A capillary hemangioma that may regress spontaneously. It occurs in infants and children.|NCI|N|
C4317091|Trisomy 18 is a chromosomal abnormality associated with the presence of an extra chromosome 18 and characterized by growth delay, dolichocephaly, a characteristic facies, limb anomalies and visceral malformations.|ORDO|N|
C4317093|Decreased activity of coagulation factor XI. Factor XI, also known as plasma thromboplastin antecedent, is a serine proteinase that activates factor IX.|HPO|N|
C4317107|An abnormality of the thyroid gland.|HPO|N|
C4317109|A transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain, regardless of whether focal, generalized, or unknown onset, whether aware or impaired awareness, and whether motor or nonmotor.|SNOMEDCT_US|N|
C4317112|Generalized degenerative changes of the fat tissue.|HPO|N|
C4317123|A myoclonic seizure is a type of motor seizure characterized by sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus.|HPO|N|
C4317146|A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter.|HPO|N|
C4317151|Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome is an autosomal dominant disorder characterized by these 4 features, which begin in early childhood and are progressive (summary by Moalem et al., 2015).|OMIM|N|
C4317152|A persistent midline depression of the skin over the fat pad of the chin.|HPO|N|
C4317154|Cole-Carpenter syndrome is characterized by bone fragility, craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features (Cole and Carpenter, 1987).
Genetic Heterogeneity of Cole-Carpenter Syndrome
Cole-Carpenter syndrome-2 (CLCRP2; 616294) is caused by mutation in the SEC24D gene (607186).|OMIM|N|
C4317224|SRD5A3-congenital disorder of glycosylation (SRD5A3-CDG, formerly known as congenital disorder of glycosylation type Iq) is an inherited condition that causes neurological and vision problems and other signs and symptoms. The pattern and severity of this condition's features vary widely among affected individuals.\n\nIndividuals with SRD5A3-CDG typically develop signs and symptoms of the condition during infancy or early childhood. Most individuals with SRD5A3-CDG have intellectual disability, vision problems, unusual facial features,low muscle tone (hypotonia), and problems with coordination and balance (ataxia). \n\nVision problems in SRD5A3-CDG often include involuntary side-side movements of the eyes (nystagmus), a gap or hole in one of the structures of the eye (coloboma), underdevelopment of the nerves that carry signals between the eyes and the brain(optic nerve hypoplasia), or vision loss early in life (early-onset severe retinal dystrophy). Over time, affected individuals may develop clouding of the lenses of the eyes (cataracts) or increased pressure in the eyes (glaucoma).\n\nOther features of SRD5A3-CDG can include skin rash, unusually small red blood cells (microcytic anemia),and liver problems.|MedlinePlus Genetics|N|
C4317295|Developmental and epileptic encephalopathy-36 (DEE36) is an X-linked neurodevelopmental disorder characterized by the onset of seizures at a mean age of 6.5 months. Most patients present with infantile spasms associated with hypsarrhythmia on EEG, consistent with a clinical diagnosis of West syndrome. The seizures tend to be refractory to treatment, although some patients may respond to benzodiazepines or a ketogenic diet. Affected individuals have severely delayed psychomotor development with poor motor function, severe intellectual disability, poor or absent speech, and limited eye contact. More variable features include feeding difficulties sometimes requiring tube feeding, ocular defects including cortical visual impairment, dysmorphic facial features, and scoliosis or osteopenia. The vast majority of patients reported have been females, although rare affected males with a similar phenotype have been described. Most patients show normal N-glycosylation on transferrin isoelectric focusing, but some show abnormal N-glycosylation consistent with CDG type I (summary by Ng et al., 2020).
For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350.
For a discussion of the classification of CDGs, see CDG1A (212065).|OMIM|N|
C4317320|Factor V Leiden thrombophilia is characterized by a poor anticoagulant response to activated protein C (APC) and an increased risk for venous thromboembolism (VTE). Deep vein thrombosis (DVT) is the most common VTE, with the legs being the most common site. Thrombosis in unusual locations is less common. Evidence suggests that heterozygosity for the Leiden variant has at most a modest effect on risk for recurrent thrombosis after initial treatment of a first VTE. It is unlikely that factor V Leiden thrombophilia (i.e., heterozygosity or homozygosity for the Leiden variant) is a major factor contributing to pregnancy loss and other adverse pregnancy outcomes (preeclampsia, fetal growth restriction, and placental abruption). The clinical expression of factor V Leiden thrombophilia is influenced by the following: The number of Leiden variants (heterozygotes have a slightly increased risk for venous thrombosis; homozygotes have a much greater thrombotic risk). Coexisting genetic thrombophilic disorders, which have a supra-additive effect on overall thrombotic risk. Acquired thrombophilic disorders: antiphospholipid antibody (APLA) syndrome, paroxysmal nocturnal hemoglobinuria, myeloproliferative disorders, and increased levels of clotting factors. Circumstantial risk factors including but not limited to pregnancy, central venous catheters, travel, combined oral contraceptive (COC) use and other combined contraceptives, oral hormone replacement therapy (HRT), selective estrogen receptor modulators (SERMs), obesity, leg injury, and advancing age.|GeneReviews|N|
C4317339|A type of epilepsy that presents with typical absence seizures between 9 and 13 years of age in an otherwise normal adolescent. The typical absence seizures usually occur less than daily in the untreated state and are provoked by hyperventilation in 87 percent of cases. Generalized tonic-clonic seizures are seen in greater than 90 percent of cases, most commonly beginning shortly after onset of absence seizures. Myoclonic seizures do not occur. Development and cognition are typically normal. Neurological examination is normal. The electroencephalogram shows 3 to 5.5 Hz generalized spike-wave with a normal background.|SNOMEDCT_US|N|
C4318391|One or more of: deep sclerotic features; hidebound; impaired mobility; ulceration.|NCI|N|
C4318392|Greater than 50% of body surface area involved.|NCI|N|
C4318393|Severe symptoms (shortness of breath at rest; requiring O2).|NCI|N|
C4318454|A deletion of the thymine nucleotide at position 5946 of the coding sequence of the BRCA2 gene.|NCI|N|
C4318457|A response indicating that an individual usually uses a bathtub bar.|NCI|N|
C4318459|A change in the nucleotide sequence of the MSH2 gene that is associated with increased risk of disease.|NCI|N|
C4318479|Growth hormone insensitivity syndrome (GHIS) is a group of diseases characterized by marked short stature associated with normal or elevated growth hormone (GH) concentrations, which fail to respond to exogenous GH administration. GHIS comprises growth delay due to IGF-1 deficiency, growth delay due to IGF-1 resistance, Laron syndrome, short stature due to STAT5b deficiency and primary acid-labile subunit (ALS) deficiency (see these terms).|ORDO|N|
C4318482|A response indicating that an individual usually uses crutches.|NCI|N|
C4318483|A response indicating that an individual needs help from another person for eating.|NCI|N|
C4318493|A cytogenetic abnormality that involves a translocation between chromosomes 2 and 8.|NCI|N|
C4318591|Body surface area involvement is greater than 50 percent and there are any skin features that are Score 3. This score is also used when superficial sclerotic features are present (Score 2), but there is impaired mobility or ulceration (Score 3).|NCI|N|
C4318592|FEV1 is less than or equal to 39 percent and lung symptoms are none to severe.|NCI|N|
C4318593|FEV1 less than or equal to 39%.|NCI|N|
C4318616|A response indicating that an individual needs help from another person for getting up.|NCI|N|
C4318747|A finding indicating the presence of an ependymal tumor in the spinal cord.|NCI|N|
C4318749|A benign neoplasm of the epithelium originating from plasma cells.|NCI|N|
C4319565|Disease with characteristics of intrauterine and postnatal growth retardation, microcephaly, facial dysmorphism, skeletal dysplasia, low-birth weight and brain anomalies. Although microcephalic osteodysplastic primordial dwarfism (MOPD) types 1 and 3 were originally described as two separate entities on the basis of radiological criteria (notably small differences in pelvic and long bone structure), later reports confirmed that the two forms represent different modes of expression of the same syndrome. Although the causative gene remains unknown, homozygosity mapping has allowed identification of a candidate gene region on chromosome 2q (2q14.2-q14.3). Histological studies suggest that MOPD types 1 and 3 result from a basic defect in cell proliferation and tissue differentiation. Transmitted as autosomal recessive trait.|SNOMEDCT_US|N|
C4319571|The potential future harm that may arise from some present action or attribute or condition is almost certain.|NCI|N|
C4319572|This syndrome has characteristics of congenital and permanent laryngeal abductor paralysis and mental deficiency. It has been described in several families. X-linked inheritance is likely.|SNOMEDCT_US|N|
C4319730|A response indicating that an individual is completely able to do something.|NCI|N|
C4319731|A subjective answer of complete agreement.|NCI|N|
C4319745|A response indicating that an individual usually uses special or built up utensils.|NCI|N|
C4319775|A deletion of the two nucleotides in positions 68 and 69 from the coding sequence of the BRCA1 gene.|NCI|N|
C4319777|A response indicating that an individual needs help from another person for dressing and grooming.|NCI|N|
C4319778|A response indicating that an individual needs help from another person for errands and chores.|NCI|N|
C4319780|1-18% of body surface area involved.|NCI|N|
C4319781|Mild symptoms (shortness of breath after climbing one flight of steps).|NCI|N|
C4319782|Body surface area involvement is 1-18 percent.|NCI|N|
C4319783|FEV1 is 60 to 79 percent and lung symptoms are none or mild.|NCI|N|
C4319784|FEV1 60-79%.|NCI|N|
C4319808|A chromosome disorder associated with TRISOMY of all or part of CHROMOSOME 13. Clinical manifestations include CONGENITAL HEART DEFECTS (e.g., PATENT DUCTUS ARTERIOSUS), facial malformations (e.g., CLEFT LIP; CLEFT PALATE; COLOBOMA; MICROPHTHALMIA); HYPOTONIA, digit malformations (e.g., POLYDACTYLY or SYNDACTYLY), and SEIZURES and severe INTELLECTUAL DISABILITY associated with NERVOUS SYSTEM MALFORMATIONS.|MSH|N|
C4319932|BBS21 is an autosomal recessive ciliopathy characterized by obesity, postaxial polydactyly, retinal degeneration, and mild cognitive impairment (Heon et al., 2016; Khan et al., 2016).
For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (209900).|OMIM|N|
C4321236|A finding indicating decreased tissue sensitivity to parathyroid hormone.|NCI|N|
C4321237|A response indicating a high level.|NCI|N|
C4321238|A response indicating that an individual usually uses a cane.|NCI|N|
C4321245|A gap in the lip or lips.|HPO|N|
C4321247|An inherited condition caused by mutation(s) in the SLC25A4 gene, encoding ADP/ATP translocase 1. It is characterized by hypertrophic cardiomyopathy.|NCI|N|
C4321250|A response indicating that an individual needs help from another person for reach.|NCI|N|
C4321303|A tissue that forms in a location of the body at or in which it is not normally associated.|NCI|N|
C4321304|A response indicating that an individual usually uses a walker.|NCI|N|
C4321309|A molecular genetic abnormality indicating the presence of multiple copies of the FANCE gene.|NCI|N|
C4321310|A molecular genetic abnormality indicating the presence of multiple copies of the FANCD2 gene.|NCI|N|
C4321312|A change in the nucleotide sequence of the POLQ gene.|NCI|N|
C4321324|A rare inherited cancer-predisposing syndrome characterised by the development of a broad spectrum of malignancies during childhood, including mainly brain, haematological and gastrointestinal cancers, although embryonic and other tumours have also been occasionally reported. Non-neoplastic features, in particular manifestations reminiscent of neurofibromatosis type 1 (for example cafe au lait spots, freckling, neurofibromas), as well as premalignant and non-malignant lesions (such as adenomas/polyps) are frequently present before malignancy development.|SNOMEDCT_US|N|
C4321325|Presence of lupus anticoagulant (LA) autoantibodies. LA represent a heterogeneous group of autoantibodies, IgG, IgM, or a mixture of both classes, that interfere with standard phospholipid-based coagulant tests (this is only an in vitro phenomenon, LA do not cause reduction of coagulation in vivo). The antibodies are directed against plasma proteins which also bind to phospholipid surfaces.|HPO|N|
C4321333|A response indicating that an individual usually uses a raised toilet seat.|NCI|N|
C4321335|A response indicating a moderate level.|NCI|N|
C4321345|No sclerotic features.|NCI|N|
C4321346|No body surface area involved.|NCI|N|
C4321347|No symptoms.|NCI|N|
C4321348|Body surface area involvement is 0 percent and there are no sclerotic features.|NCI|N|
C4321349|FEV1 is greater than or equal to 80 percent with or without lung symptoms.|NCI|N|
C4321350|FEV1 greater than or equal to 80%.|NCI|N|
C4321351|A response indicating a low level.|NCI|N|
C4321352|Class to represent frequency of phenotypic abnormalities within a patient cohort.|HPO|N|
C4321354|An insertion of a single cytosine nucleotide between positions 5265 and 5266 of the coding sequence of the BRCA1 gene.|NCI|N|
C4321356|A response indicating that an individual needed quite a bit of strain to do something.|NCI|N|
C4321357|A response indicating that an individual is quite able to do something.|NCI|N|
C4321358|Disorders of coagulation caused by autoantibodies generated against native coagulation factors or therapeutically-administered hemostatic agents.|NCI|N|
C4321359|An abnormally decreased concentration of insulin like growth factor binding protein acid labile subunit level in the blood circulation.|HPO|N|
C4321362|Superficial sclerotic features; not hidebound (able to pinch).|NCI|N|
C4321363|19-50% of body surface area involved.|NCI|N|
C4321364|Moderate symptoms (shortness of breath after walking on flat ground).|NCI|N|
C4321365|Body surface area involvement is 19-50 percent and there are superficial sclerotic features.|NCI|N|
C4321366|FEV1 is 40 to 59 percent and lung symptoms are none to moderate.|NCI|N|
C4321367|FEV1 40-59%.|NCI|N|
C4321369|A response indicating that an individual usually uses a special or built up chair.|NCI|N|
C4321392|The identification of a localized, pathological, or traumatic structural change, damage, deformity, or discontinuity of the bone.|NCI|N|
C4321393|A marked decrease in contrast enhancement that is not due to actual tumor shrinkage, but that may be due to immunotherapy.|NCI|N|
C4321397|A response indicating a very high level.|NCI|N|
C4321403|A response indicating that an individual is somewhat able to do something.|NCI|N|
C4321408|A response indicating that an individual usually uses a wheelchair.|NCI|N|
C4321417|A response indicating that an individual needs help from another person for gripping and opening things.|NCI|N|
C4321420|A change in the nucleotide sequence of the MLH1 gene that is associated with increased risk of disease.|NCI|N|
C4321421|A nucleotide substitution in the 5'' promoter region of the TERT gene at a position that is 146 nucleotides upstream of the translation start site where cytosine has been mutated to thymine.|NCI|N|
C4321422|A nucleotide substitution in the 5'' promoter region of the TERT gene at a position that is 124 nucleotides upstream of the translation start site where cytosine has been mutated to thymine.|NCI|N|
C4321446|K ATP channel-associated neonatal diabetes mellitus that does not resolve spontaneously.|NCI|N|
C4321451|A response indicating that an individual usually uses a long-handled appliance for reach.|NCI|N|
C4321452|A response indicating that an individual usually uses a long-handled appliance in the bathroom.|NCI|N|
C4321458|Loss of function mutation(s) in the paternal allele of the GNAS gene, encoding guanine nucleotide-binding protein G(s) subunit alpha isoforms short resulting in dermal ossification beginning in infancy, followed by increasing and extensive heterotopic bone formation in deep muscle and fascia.|NCI|N|
C4321477|A variant of sickle cell disease due to homozygosity of the E6V mutation, amino acid substitution of valine for glutamic acid in the sixth position of the beta chain, resulting in the production of hemoglobin S from both alleles.|NCI|N|
C4321491|A response indicating that an individual is moderately able to do something.|NCI|N|
C4321495|The ratio of interstitial fluid volume to total body fluid.|NCI|N|
C4321500|A response indicating that an individual is not or was not sexually active.|NCI|N|
C4321502|A coagulation disorder characterized by the partial or complete absence of factor XI activity in the blood.|NCI|N|
C4321510|A molecular abnormality indicating rearrangement of the CRLF2 gene.|NCI|N|
C4324277|Involuntary, fine, continuous, undulating contractions of the eyelid.|HPO|N|
C4324346|Excessive anterior displacement of the tracheal and/or bronchial membranous wall.|HPO|N|
C4324492|Increased pressure across the heart valve.|NCI|N|
C4324497|An adenocarcinoma that arises from the colon and has metastasized to another anatomic site.|NCI|N|
C4324548|Left ventricular non-compaction (LVNC) is characterized by prominent left ventricular trabeculae and deep inter-trabecular recesses. The myocardial wall is often thickened with a thin, compacted epicardial layer and a thickened endocardial layer. In some patients, LVNC is associated with left ventricular dilatation and systolic dysfunction, which can be transient in neonates.|MONDO|N|
C4324557|An abnormally high concentration of trypsinogen in the blood circulation.|HPO|N|
C4324606|A rare stiff person spectrum disorder characterized by painful episodic spasms (which are often precipitated by touch, pain, cold, movement, or negative emotions), increased stimulus sensitivity including hyperekplexia, as well as stiffness, in a lower or upper limb, typically with insidious onset and progression over months or years. The condition may eventually progress into classic stiff person syndrome. Fear of leaving the house and walking unaided is characteristic. Most patients have autoantibodies in serum and CSF, in particular anti-glutamic acid decarboxylase (GAD) antibodies. In rare cases, the syndrome is of paraneoplastic origin.|ORPHANET|N|
C4324621|The use of opioids that results in the development of a dependency that adversely affects an individual''s life.|NCI|N|
C4324623|Misophonia is characterized by strong physiological, emotional, and behavioral reactions to auditory, visual, and/or kinesthetic stimuli of different nature regardless of their physical characteristics. These misophonic responses include anger, general discomfort, disgust, anxiety, and avoidance and escape behaviors.|HPO|N|
C4324643|A childhood spinal muscular atrophy that is evident before birth and characterized by diminished movement in the womb, joint deformities, extremely weak muscle tone and very weak respiratory muscles.|MONDO|N|
C4324656|A non-small cell lung carcinoma without evidence of squamous differentiation.|NCI|N|
C4324662|A rare neurologic disease with characteristics of persistent continuous bilateral visual experience of flickering snow-like dots throughout the visual field in association with other visual (including palinopsia, enhanced entopic phenomena, nyctalopia, photophobia and photopsia) and non-visual (migraine with or without aura, tinnitus and occasionally tremor) symptoms.|SNOMEDCT_US|N|
C4324732|Thickening of the bladder walls.|NCI|N|
C4324739|A rare Epstein-Barr virus-positive B-cell lymphoproliferative disorder which presents as an ulcerative mucocutaneous lesion. It is associated with immune suppression, including age-related and drug-induced immunosuppression.|NCI|N|
C4329210|A rare genetic endocrine disease with characteristics of a defect in conversion of cortisone to active cortisol, resulting in ACTH-mediated excessive androgen release from adrenal glands. Premature adrenarche is typical with precocious pseudopuberty, proportionate tall stature and accelerated bone maturation in males and hirsutism, oligoamenorrhoea, central obesity and infertility in females. Imaging studies may indicate adrenal hyperplasia.|SNOMEDCT_US|N|
C4329211|A cytogenetic abnormality characterized by deregulation of genes in 11q.|NCI|N|
C4329212|Decreased or absent activity of the enzyme 17-alpha-hydroxylase/17,20 lyase due to loss-of-function mutation(s) in the CYP17A1 gene. The clinical manifestations of the deficiency are dependent on whether one or both activities of the enzyme are affected, and may include hypertension due to reduced 17-hydroxylase activity and incomplete genital masculinization in 46,XY infants due to reduced 17,20 lyase activity.|NCI|N|
C4329218|A 1000 times reduction in the Philadelphia Chromosome positive cells.|NCI|N|
C4329222|A molecular abnormality indicating rearrangement of the ABL1 gene.|NCI|N|
C4329223|A molecular abnormality indicating rearrangement of the ABL2 gene.|NCI|N|
C4329226|A molecular genetic abnormality indicating the presence of multiple copies of the ALK gene.|NCI|N|
C4329227|A cytogenetic abnormality that refers to any translocation involving the ALK gene.|NCI|N|
C4329229|A change in the nucleotide sequence of the ATR gene.|NCI|N|
C4329254|An acquired coagulation disorder characterized by the partial or complete absence of fibrinogen (factor I) activity in the blood.|NCI|N|
C4329255|An acquired coagulation disorder characterized by the partial or complete absence of tissue factor (factor III) activity in the blood.|NCI|N|
C4329256|An acquired coagulation disorder characterized by the partial or complete absence of factor V activity in the blood.|NCI|N|
C4329257|An acquired coagulation disorder characterized by the partial or complete absence of factor XI activity in the blood.|NCI|N|
C4329258|An acquired coagulation disorder characterized by the partial or complete absence of factor XII activity in the blood.|NCI|N|
C4329259|Hyperthyroidism, the cause of which is not present from birth.|NCI|N|
C4329260|Hypoparathyroidism, the cause of which is not present at birth.|NCI|N|
C4329261|Ovarian failure, the cause of which is not present at birth.|NCI|N|
C4329262|A change in the nucleotide sequence of the ERBB2 gene that results in constitutive receptor tyrosine-protein kinase erbB-2-dependent signal transduction and activation of downstream signaling pathways.|NCI|N|
C4329263|A change in the nucleotide sequence of the MET gene that that results in constitutive hepatocyte growth factor receptor-dependent signal transduction and activation of downstream signaling pathways.|NCI|N|
C4329264|A change in the nucleotide sequence of the RET gene that results in constitutive proto-oncogene tyrosine-protein kinase receptor Ret-dependent signal transduction and activation of downstream signaling pathways.|NCI|N|
C4329265|Mutation(s) in the TSHR gene resulting in increased function of the thyroid stimulating hormone receptor.|NCI|N|
C4329266|A non-Down syndrome acute megakaryoblastic leukemia that occurs in childhood. It is associated with CBFA2T3-GLIS2 chimeric oncogene and has an unfavorable prognosis.|NCI|N|
C4329267|A non-Down syndrome acute megakaryoblastic leukemia that occurs in childhood. It is associated with t(11;12)(p15;p13) which results in the presence of NUP98-KDM5A chimeric oncogene.|NCI|N|
C4329268|A rare acute myeloid leukemia (AML) with recurrent genetic anomaly characterized by the presence of bone marrow and peripheral blood myeloblasts with features ranging from those of minimal differentiation to granulocytic maturation, demonstrating t(9;22)(q34.1;q11.2) or molecular genetic evidence of BCR-ABL1 fusion. Evidence of chronic myeloid leukemia (CML) is absent. Patients most commonly present with leukocytosis with blast predominance and variable anemia and thrombocytopenia. Splenomegaly is less frequent and peripheral blood basophilia lower than in patients with myeloid blast transformation of CML. The disease occurs primarily in adults, and response to traditional AML therapy or tyrosine kinase inhibitor therapy alone is typically poor.|SNOMEDCT_US|N|
C4329270|An acute myeloid leukemia with single mutations of the CEBPA gene.|NCI|N|
C4329271|De novo acute myeloid leukemia with RUNX1 gene mutation, not associated with myelodysplastic syndrome-related cytogenetic abnormalities.|NCI|N|
C4329272|A rare acute myeloid leukemia that occurs in childhood. It is characterized by t(10;11)(p12;q23) which results in MLLT10-MLL fusion. It is associated with an unfavorable prognosis.|NCI|N|
C4329273|Acute myeloid leukemia with a cytogenetically cryptic fusion of NUP98 to JARID1A, t(11;15)(p15;q35). It typically has a megakaryocytic phenotype and occurs in 10% of pediatric, non-Down syndrome-related acute megakaryoblastic leukemia cases.|NCI|N|
C4329274|Acute myeloid leukemia with often cytogenetically cryptic fusion of NUP98 (chromosome 11p15) with NSD1 (chromosome 5q35). This alteration occurs in 4% of pediatric AML cases.|NCI|N|
C4329275|A rare acute myeloid leukemia that occurs in childhood. It is characterized by t(6;11)(q27;q23) which results in MLLT4-MLL fusion. It is associated with an unfavorable prognosis.|NCI|N|
C4329276|Adenocarcinoma that arises from the ovary of a rat.|NCI|N|
C4329278|An increase of adipocytes in the extracellular space.|NCI|N|
C4329279|Diabetes insipidus complicated by a deficient or absent thirst response to hyperosmolality, usually as a result of hypothalamic damage or dysfunction.|NCI|N|
C4329280|A head and neck carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C4329281|A malignant solid neoplasm that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C4329285|A response indicating agreement at almost all times.|NCI|N|
C4329286|A response indicating disagreement at almost all times.|NCI|N|
C4329293|A response indicating agreement at all times.|NCI|N|
C4329294|A response indicating disagreement at all times.|NCI|N|
C4329301|An unusual variant of capillary hemangioma. It is characterized by a unique anastomosing sinusoidal-like architecture which may mimic angiosarcoma. It was originally described in the kidney but rare cases have been reported in other sites.|NCI|N|
C4329303|Anemia that results from a decreased rate of erythropoiesis.|NCI|N|
C4329304|Any form of anemia that results from the absence of, or the defective action of, any enzyme involved in erythropoiesis.|NCI|N|
C4329305|Anemia that results from an increased rate of erythrocyte destruction.|NCI|N|
C4329354|A finding that generally has features of degeneration and necrosis.|NCI|N|
C4329365|A usually aggressive and invasive pituitary neuroendocrine tumor characterized by excessive p53 immunoreactivity, increased mitotic activity, and MIB-1 proliferative index greater than 3%.|NCI|N|
C4329373|A cyst arising from an ovarian follicle that produces hormones independent of gonadotropin stimulation.|NCI|N|
C4329374|Idiopathic infantile hypercalcemia is a condition characterized by high levels of calcium in the blood (hypercalcemia). Two types of idiopathic infantile hypercalcemia have been identified and are distinguished by their genetic causes: infantile hypercalcemia 1 and infantile hypercalcemia 2. In infants with either type, hypercalcemia can cause vomiting, increased urine production (polyuria), dehydration, constipation, poor feeding, weight loss, and an inability to grow and gain weight as expected (failure to thrive). As they age, affected babies usually have delayed development of mental and movement abilities (psychomotor delay). Individuals with infantile hypercalcemia 1 or 2 may also have high levels of calcium in their urine (hypercalciuria) and deposits of calcium in their kidneys (nephrocalcinosis).\n\nWith treatment, the outward symptoms of hypercalcemia, such as vomiting, dehydration, failure to thrive, and psychomotor delay, usually improve in childhood. However, affected children still tend to have higher-than-normal amounts of calcium in their blood and urine and calcium deposits in their kidneys. By adulthood, long-term hypercalcemia and hypercalciuria can lead to the formation of kidney stones (nephrolithiasis) and may damage the kidneys and impair their function. Affected adults may also develop calcium deposits in the joints or in the clear outer covering of the eye (the cornea), and some have low bone mineral density (osteoporosis).\n\nIn rare cases, affected individuals do not have symptoms of hypercalcemia in infancy, and the condition begins in later childhood or adulthood. These individuals usually develop hypercalciuria, nephrocalcinosis, and nephrolithiasis, although the features may not cause any obvious health problems.\n\nAlthough most signs and symptoms are similar between the two known types of idiopathic infantile hypercalcemia, individuals with infantile hypercalcemia 2 have low levels of a mineral called phosphate in the blood (hypophosphatemia), while phosphate levels are typically normal in people with infantile hypercalcemia 1.|MedlinePlus Genetics|N|
C4329380|B acute lymphoblastic leukemia characterized by amplification of a portion of chromosome 21. It usually occurs in children and is associated with an adverse prognosis.|NCI|N|
C4329382|B lymphoblastic leukemia/lymphoma characterized by a gene-expression profile similar to that of BCR-ABL1-positive B lymphoblastic leukemia/lymphoma, absence of the pathognomonic BCR-ABL1 rearrangement, alterations of lymphoid transcription factor genes, and a poor outcome.|NCI|N|
C4329384|B lymphoblastic leukemia/lymphoma characterized by amplification of a portion of chromosome 21. It usually occurs in children and is associated with an adverse prognosis.|NCI|N|
C4329385|A change in the nucleotide sequence of the BARD1 gene.|NCI|N|
C4329387|A molecular genetic abnormality indicating the presence of multiple copies of the BCL2 gene.|NCI|N|
C4329388|A molecular genetic abnormality indicating the presence of multiple copies of the BCL6 gene.|NCI|N|
C4329428|A complex mutation in the BLM gene consisting of a 6 base pair deletion of the nucleotide sequence ATCTGA encompassing nucleic acid positions 2207 through 2212 accompanied by an insertion of 7 base pairs with the sequence TAGATTC.|NCI|N|
C4329429|A variation in the amino acid sequence for Bloom syndrome protein.|NCI|N|
C4329430|A change in the amino acid sequence of breast cancer type 1 susceptibility protein where a deletion mutation results in the replacement of the glutamic acid at position 23 with a valine immediately by 16 non-canonical amino acids and a stop codon.|NCI|N|
C4329431|A change in the amino acid sequence of breast cancer type 1 susceptibility protein where an insertion mutation results in the replacement of the glutamine at position 1756 with a proline immediately followed by a stop codon.|NCI|N|
C4329432|A variation in the amino acid sequence for breast cancer type 1 susceptibility protein.|NCI|N|
C4329433|A change in the amino acid sequence of breast cancer type 2 susceptibility protein where a deletion mutation results in the replacement of the serine at position 1982 with an arginine followed by 21 non-canonical amino acids and a stop codon.|NCI|N|
C4329434|A variation in the amino acid sequence for breast cancer type 2 susceptibility protein.|NCI|N|
C4329435|A change in the nucleotide sequence of the BRIP1 gene.|NCI|N|
C4329437|A change in the nucleotide sequence of the BTK gene.|NCI|N|
C4329445|A response indicating that an individual usually uses a bathtub seat.|NCI|N|
C4329454|A mutation that occurs on both alleles of a single gene.|NCI|N|
C4329461|An indication that a sample block has been depleted by testing.|NCI|N|
C4329463|An assessment of the bone response of a disease to a therapy.|NCI|N|
C4329488|A congenital metabolic disorder characterized by a deficiency in the enzyme uroporphyrinogen III synthase, which occurs in cattle.|NCI|N|
C4329489|A congenital metabolic disorder characterized by a deficiency in the enzyme ferrochelatase, which occurs in cattle.|NCI|N|
C4329496|A molecular genetic abnormality indicating the presence of a deletion mutation in exon 9 of the CALR gene. These deletion mutations are associated with primary myelofibrosis and may be predicative of a favorable survival prognosis.|NCI|N|
C4329497|A molecular genetic abnormality indicating the presence of an insertion mutation in exon 9 of the CALR gene. These insertion mutations are associated with primary myelofibrosis and may be predicative of shortened survival.|NCI|N|
C4329498|A molecular genetic abnormality indicating the presence of a mutation in exon 9 of the CALR gene.|NCI|N|
C4329499|A deletion of 52 nucleotides from the coding sequence of the CALR gene from positions 1092 through 1143.|NCI|N|
C4329500|An insertion of five nucleotides, TTGTC, between positions 1154 and 1155 of the coding sequence of the CALR gene.|NCI|N|
C4329501|A change in the amino acid composition of the calreticulin protein where a frameshift mutation results in the insertion of 46 non-canonic amino acids followed by a stop codon immediately after the lysine residue at position 385.|NCI|N|
C4329502|A change in the amino acid composition of the calreticulin protein where a frameshift mutation results in the insertion of 45 non-canonic amino acids followed by a stop codon immediately after the leucine residue at position 367.|NCI|N|
C4329503|A variation in the amino acid sequence for the calreticulin protein.|NCI|N|
C4329505|A molecular genetic abnormality indicating the presence of multiple copies of the CCND2 gene.|NCI|N|
C4329506|A molecular genetic abnormality indicating the presence of multiple copies of the CCND3 gene.|NCI|N|
C4329590|A change in the nucleotide sequence of the CDK12 gene.|NCI|N|
C4329591|A molecular genetic abnormality indicating the presence of multiple copies of the CDK4 gene.|NCI|N|
C4329592|A molecular genetic abnormality indicating the presence of multiple copies of the CDK6 gene.|NCI|N|
C4329603|A change in the nucleotide sequence of the CREBBP gene.|NCI|N|
C4329608|Rickets due to low calcium concentrations, the cause of which can be nutritional or genetic.|NCI|N|
C4329611|Oral squamous cell carcinoma that occurs in a dog.|NCI|N|
C4329612|Soft tissue sarcoma occurring in a dog.|NCI|N|
C4329613|Adeonocarcinoma of the thyroid gland occurring in a dog.|NCI|N|
C4329620|A finding indicating that a prostate carcinoma continues to grow despite the surgical removal of the testes or medical intervention to block androgen production.|NCI|N|
C4329624|A morphologic finding indicating the presence of a high-grade cellular component adjacent to or admixed with a low-grade cellular infiltrate.|NCI|N|
C4329625|An anaplastic large cell lymphoma, ALK-negative, arising from the central nervous system.|NCI|N|
C4329626|An anaplastic large cell lymphoma, ALK-positive, arising from the central nervous system.|NCI|N|
C4329627|An angiolipoma that arises from the central nervous system.|NCI|N|
C4329628|Intracranial and/or spinal involvement by desmoid fibromatosis.|NCI|N|
C4329629|A central nervous system embryonal neoplasm characterized by the presence of histological features consistent with atypical teratoid/rhabdoid tumor and absence of mutations of the INI1 gene or SMARCA4 (BRG1) gene.|NCI|N|
C4329630|A low-grade malignant blood vessel neoplasm that arises from the central nervous system. It is characterized by the presence of epithelioid endothelial cells.|NCI|N|
C4329631|Rare involvement of the central nervous system by Erdheim-Chester disease.|NCI|N|
C4329632|A rare Ewing sarcoma/peripheral primitive neuroectodermal tumor that affects the central nervous system either as a primary dural neoplasm or by direct extension from adjacent soft tissues or bone.|NCI|N|
C4329633|A rare extranodal B-cell non-Hodgkin lymphoma that affects the central nervous system. It is characterized by the presence of lymphoma cells exclusively in the lumina of small vessels, particularly capillaries.|NCI|N|
C4329634|Rare involvement of the central nervous system by Langerhans cell histiocytosis.|NCI|N|
C4329635|A primary central nervous system non-Hodgkin lymphoma derived from mature or post-thymic T-cells or NK-cells.|NCI|N|
C4329636|A mesenchymal chondrosarcoma that arises from the central nervous system.|NCI|N|
C4329637|A rare myofibroblastoma affecting the central nervous system.|NCI|N|
C4329638|A solitary fibrous tumor that arises from the central nervous system. It corresponds most often to the collagenous and low cellularity spindle cell tumor which was diagnosed as central nervous system solitary fibrous tumor in the past.|NCI|N|
C4329639|A solitary fibrous tumor that arises from the central nervous system. It corresponds to the more cellular, less collagenous tumor with plump cells and staghorn vasculature which was diagnosed as central nervous system hemangiopericytoma in the past.|NCI|N|
C4329640|A mesenchymal, non-meningothelial neoplasm arising from the central nervous system. It is characterized by a collagenous and low cellularity spindle cell and/or hemangiopericytomatous histopathological pattern, recurrent intrachromosomal rearrangement on chromosome 12q that results in the fusion of the NAB2 and STAT6 genes, high recurrence rates, and long-term risk of systemic metastasis.|NCI|N|
C4329641|A rare undifferentiated pleomorphic sarcoma (formerly known as malignant fibrous histiocytoma) involving the central nervous system.|NCI|N|
C4329642|A finding indicating the presence of an ependymal tumor in the cerebellum.|NCI|N|
C4329643|A finding indicating the presence of an ependymal tumor in the cerebellum and brain stem.|NCI|N|
C4329644|A finding indicating the presence of an ependymal tumor in the cerebellum and fourth ventricle.|NCI|N|
C4329645|A finding indicating the presence of an ependymal tumor in the cerebellum and a brain ventricle.|NCI|N|
C4329646|A finding indicating the presence of an ependymal tumor in the cerebellum, brain stem, and the cervical region of spinal cord.|NCI|N|
C4329650|A finding about one or more characteristics of cervical lymph nodes and unknown primary tumors, following the rules of the TNM AJCC v8 classification system. It applies to squamous cell carcinoma and salivary gland carcinoma of all head and neck sites except HPV-related oropharynx cancer, nasopharynx cancer, melanoma, thyroid carcinoma, and sarcoma. Staging of the patient who presents with an occult primary tumor and EBV-unrelated and HPV-unrelated metastatic cervical lymphadenopathy is also included. (from AJCC 8th Ed.)|NCI|N|
C4329651|A finding indicating the presence of an ependymal tumor in the cervical region of spinal cord.|NCI|N|
C4329652|A finding indicating the presence of an ependymal tumor in the cervical and lumbosacral regions of spinal cord.|NCI|N|
C4329653|A finding indicating the presence of an ependymal tumor in the cervical and thoracic regions of spinal cord.|NCI|N|
C4329654|A finding indicating the presence of an ependymal tumor in the cervical, thoracic, and lumbosacral regions of spinal cord.|NCI|N|
C4329660|A melanoma that occurs during childhood.|NCI|N|
C4329661|A finding of T acute lymphoblastic leukemia in childhood that is not growing and responds to treatment.|NCI|N|
C4329664|An irregularity in the structure of chromosome 17.|NCI|N|
C4329665|A molecular abnormality that results in monoallelic loss of function mutations located within the short arm of chromosome 3 (3p).|NCI|N|
C4329666|Chronic myelomonocytic leukemia characterized by the presence of eosinophilia, PDGFRB gene rearrangement, and t(5;12)(q31;p12).|NCI|N|
C4329667|A chronic myelomonocytic leukemia characterized by the presence of less than 5 percent blasts in the bone marrow and less than 2 percent blasts in the peripheral blood.|NCI|N|
C4329668|An area of the body subjected to consistent and repetitive sun exposure.|NCI|N|
C4329672|A severe form of congenital adrenal hyperplasia characterized by very low or absent activity of an enzyme in the steroidogenic pathway typically presenting early in life, and requiring life-long cortisol replacement.|NCI|N|
C4329673|Stage I includes: (T0, N0, M0); (T0, N1, M0); (T1, N0, M0); (T1, N1, M0); (T2, N0, M0); (T2, N1, M0). T0: No primary identified. T1: Tumor 2 cm or smaller in greatest dimension. T2: Tumor larger than 2 cm but not larger than 4 cm in greatest dimension. N0: No regional lymph node metastasis. N1: Tumor with metastasis in one or more ipsilateral lymph nodes, none larger than 6 cm. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4329674|Stage II includes: (T0, N2, M0); (T1, N2, M0) ;(T2, N2, M0); (T3, N0, M0); (T3, N1, M0); (T3, N2, M0). T0: No primary identified. T1: Tumor 2 cm or smaller in greatest dimension. T2: Tumor larger than 2 cm but not larger than 4 cm in greatest dimension. T3: Tumor larger than 4 cm in greatest dimension or extension to lingual surface of epiglottis. N0: No regional lymph node metastasis. N1: Tumor with metastasis in one or more ipsilateral lymph nodes, none larger than 6 cm. N2: Tumor with contralateral or bilateral lymph nodes metastasis, none larger than 6 cm. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4329675|Stage III includes: (T0, N3, M0); (T1, N3, M0); (T2, N3, M0); (T3, N3, M0); (T4, N0, M0); (T4, N1, M0); (T4, N2, M0); (T4, N3, M0). T0: No primary identified. T1: Tumor 2 cm or smaller in greatest dimension. T2: Tumor larger than 2 cm but not larger than 4 cm in greatest dimension. T3: Tumor larger than 4 cm in greatest dimension or extension to lingual surface of epiglottis. T4: Tumor with moderately advanced local disease. Tumor invades the larynx, extrinsic muscle of tongue, medial pterygoid, hard palate, or mandible or beyond. Mucosal extension to lingual surface of epiglottis from primary tumors of the base of the tongue and vallecula does not constitute invasion of the larynx. N0: No regional lymph node metastasis. N1: Tumor with metastasis in one or more ipsilateral lymph nodes, none larger than 6 cm. N2: Tumor with contralateral or bilateral lymph nodes metastasis, none larger than 6 cm. N3: Tumor with lymph node(s) metastasis, larger than 6 cm. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4329676|Stage IV includes: Any T, Any N, M1. M1: Distant metastasis. (AJCC 8th ed.)|NCI|N|
C4329683|Ovarian failure, the cause of which is present at birth.|NCI|N|
C4329684|Testicular failure, the cause of which is present at birth.|NCI|N|
C4329685|Durable or long-term complete hematologic response. Time frames that define durability of complete hematologic response vary for different hematologic malignancies.|NCI|N|
C4329691|Mutations in the genes that encode proteins found in the core binding factor (CBF) complex. These genes may be involved in chromosomal rearrangements that are associated with acute myeloid leukemia.|NCI|N|
C4329692|A group of sclerosing bone dysplasias characterized by pronounced sclerosis of the cranial vault and the long bones, resulting in increased cortical bone density. Most cases are caused by mutation(s) in the SOST or LRP5 genes, encoding sclerostin and low-density lipoprotein receptor-related protein 5, respectively. Other genes have been implicated, and some cases have been described, but do not yet have identified genetic mutations.|NCI|N|
C4329703|Impairment in the intracellular synthesis of thyroglobulin.|NCI|N|
C4329704|Impairment in the intracellular transport of thyroglobulin.|NCI|N|
C4329705|A change in the nucleotide sequence of the BARD1 gene that is associated with increased risk of disease.|NCI|N|
C4329706|A change in the nucleotide sequence of the BRIP1 gene that is associated with increased risk of disease.|NCI|N|
C4329707|A mutation that appears in the genome of the germ cells and is associated with increased risk of disease.|NCI|N|
C4329708|A change in the nucleotide sequence of the MSH6 gene that is associated with increased risk of disease.|NCI|N|
C4329709|A change in the nucleotide sequence of the PALB2 gene that is associated with increased risk of disease.|NCI|N|
C4329710|A change in the nucleotide sequence of the PMS2 gene that is associated with increased risk of disease.|NCI|N|
C4329711|A change in the nucleotide sequence of the RAD51C gene that is associated with increased risk of disease.|NCI|N|
C4329712|A change in the nucleotide sequence of the RAD51D gene that is associated with increased risk of disease.|NCI|N|
C4329720|A response indicating that an individual usually uses an aid or device for dressing, such as a button hook or zipper pull.|NCI|N|
C4329724|A subjective score of 0 on a difficulty falling asleep scale that ranges from 0: No difficulty to 10: Didn''t fall asleep.|NCI|N|
C4329725|A subjective score of 10 on a difficulty falling asleep scale that ranges from 0: No difficulty to 10: Didn''t fall asleep.|NCI|N|
C4329726|A subjective score of 1 on a difficulty falling asleep scale that ranges from 0: No difficulty to 10: Didn''t fall asleep.|NCI|N|
C4329727|A subjective score of 2 on a difficulty falling asleep scale that ranges from 0: No difficulty to 10: Didn''t fall asleep.|NCI|N|
C4329728|A subjective score of 3 on a difficulty falling asleep scale that ranges from 0: No difficulty to 10: Didn''t fall asleep.|NCI|N|
C4329729|A subjective score of 4 on a difficulty falling asleep scale that ranges from 0: No difficulty to 10: Didn''t fall asleep.|NCI|N|
C4329730|A subjective score of 6 on a difficulty falling asleep scale that ranges from 0: No difficulty to 10: Didn''t fall asleep.|NCI|N|
C4329731|A subjective score of 7 on a difficulty falling asleep scale that ranges from 0: No difficulty to 10: Didn''t fall asleep.|NCI|N|
C4329732|A subjective score of 8 on a difficulty falling asleep scale that ranges from 0: No difficulty to 10: Didn''t fall asleep.|NCI|N|
C4329733|A subjective score of 9 on a difficulty falling asleep scale that ranges from 0: No difficulty to 10: Didn''t fall asleep.|NCI|N|
C4329734|KATP-associated hyperinsulinism affecting all pancreatic beta cells.|NCI|N|
C4329735|A relatively slow growing diffuse leptomeningeal neoplasm usually affecting children and adolescents. It is characterized by the presence of clear glial neoplastic cells reminiscent of oligodendroglioma. A neuronal component may be present. The prognosis is variable.|NCI|N|
C4329736|A deletion of the long (q) arm of chromosome 18 near one end of the chromosome. Manifestations of this disorder are varied and can commonly include short stature, hypotonia, hearing loss, clubfoot or rocker-bottom feet, eye movement disorders and other vision problems, cleft palate, hypothyroidism, congenital heart defects, kidney problems, genital and skin abnormalities. Most cases are the result of a de novo deletion and are not inherited.|SNOMEDCT_US|N|
C4329737|A subjective score of 0 on a visual analogue scale that ranges from 0: No distress to 10: Extreme distress.|NCI|N|
C4329738|A subjective score of 10 on a visual analogue scale that ranges from 0: No distress to 10: Extreme distress.|NCI|N|
C4329739|A subjective score of 1 on a visual analogue scale that ranges from 0: No distress to 10: Extreme distress.|NCI|N|
C4329740|A subjective score of 2 on a visual analogue scale that ranges from 0: No distress to 10: Extreme distress.|NCI|N|
C4329741|A subjective score of 3 on a visual analogue scale that ranges from 0: No distress to 10: Extreme distress.|NCI|N|
C4329742|A subjective score of 4 on a visual analogue scale that ranges from 0: No distress to 10: Extreme distress.|NCI|N|
C4329743|A subjective score of 5 on a visual analogue scale that ranges from 0: No distress to 10: Extreme distress.|NCI|N|
C4329744|A subjective score of 6 on a visual analogue scale that ranges from 0: No distress to 10: Extreme distress.|NCI|N|
C4329745|A subjective score of 7 on a visual analogue scale that ranges from 0: No distress to 10: Extreme distress.|NCI|N|
C4329746|A subjective score of 9 on a visual analogue scale that ranges from 0: No distress to 10: Extreme distress.|NCI|N|
C4329760|A molecular abnormality indicating that the epidermal growth factor receptor protein has been localized to the membrane of an internal cellular compartment.|NCI|N|
C4329764|A molecular genetic abnormality indicating the presence of multiple copies of the EMSY gene.|NCI|N|
C4329776|A molecular abnormality indicating the presence of an abnormally high level of the ephrin type-A receptor 2 protein.|NCI|N|
C4329778|A change in the nucleotide sequence of the ERCC2 gene.|NCI|N|
C4329780|T-acute lymphoblastic leukemia in which the blasts have unique immunophenotypic and genetic characteristics suggesting only limited early T-cell differentiation.|NCI|N|
C4329784|An autosomal recessive skeletal dysplasia caused by mutation(s) in the PTH1R gene, encoding parathyroid hormone/parathyroid hormone-related peptide receptor. This condition is characterized by severely delayed skeletal maturation, as well as by abnormal modeling of the bones in the hands and feet, abnormal persistence of cartilage in the pelvis, and mild growth retardation. Calcium and phosphate concentrations are normal.|NCI|N|
C4329786|An indication that the subject has fulfilled the criteria needed to continue to the next study period.|NCI|N|
C4329787|An embryonal tumor with multilayered rosettes characterized by the absence of C19MC amplification. Approximately half of embryonal tumors with multilayered rosettes that lack a C19MC alteration carry DICER1 mutations.|NCI|N|
C4329792|A cellular droplet comprising fibrin degradation products or intracytoplasmic proteinaceous accumulations that can be stained by eosin.|NCI|N|
C4329793|A finding indicating the presence of an ependymal tumor in the brain and spinal cord.|NCI|N|
C4329801|Derangement of the thyroid gland or thyroid hormone metabolism that is unaccompanied by signs or symptoms of hypothyroidism or hyperthyroidism.|NCI|N|
C4329809|A subjective response indicating that something is extremely poor.|NCI|N|
C4329945|A molecular genetic abnormality indicating the presence of multiple copies of the FANCA gene.|NCI|N|
C4329946|A change in the nucleotide sequence of the FANCA gene.|NCI|N|
C4329947|A molecular genetic abnormality indicating the presence of multiple copies of the FANCC gene.|NCI|N|
C4329948|A change in the nucleotide sequence of the FANCD2 gene.|NCI|N|
C4329949|A change in the nucleotide sequence of the FANCE gene.|NCI|N|
C4329950|A change in the nucleotide sequence of the FANCF gene.|NCI|N|
C4329951|A change in the nucleotide sequence of the FANCM gene.|NCI|N|
C4329952|A change in the nucleotide sequence of the FBXW7 gene.|NCI|N|
C4329957|A change in the nucleotide sequence of the FGFR1 gene.|NCI|N|
C4329958|A molecular genetic abnormality indicating the presence of multiple copies of the FGFR3 gene.|NCI|N|
C4329959|A molecular genetic abnormality indicating the presence of multiple copies of the FLT1 gene.|NCI|N|
C4329960|A change in the nucleotide sequence of the FLT1 gene.|NCI|N|
C4329961|A molecular genetic abnormality indicating the presence of multiple copies of the FLT4 gene.|NCI|N|
C4329962|A change in the nucleotide sequence of the FLT4 gene.|NCI|N|
C4329963|Presence of inactivating antibodies to fibrinogen (factor I) in the blood.|NCI|N|
C4329964|Presence of inactivating antibodies to prothrombin (factor II) in the blood.|NCI|N|
C4329965|Presence of inactivating antibodies to tissue factor (factor III) in the blood.|NCI|N|
C4329966|Presence of inactivating antibodies to factor IX in the blood.|NCI|N|
C4329967|Presence of inactivating antibodies to factor V in the blood.|NCI|N|
C4329968|Presence of inactivating antibodies to factor VII in the blood.|NCI|N|
C4329969|Presence of inactivating antibodies to factor VIII in the blood.|NCI|N|
C4329970|Presence of inactivating antibodies to factor X in the blood.|NCI|N|
C4329971|Presence of inactivating antibodies to factor XI in the blood.|NCI|N|
C4329972|Presence of inactivating antibodies to factor XII in the blood.|NCI|N|
C4329973|Presence of inactivating antibodies to factor XIII in the blood.|NCI|N|
C4329974|A response indicating that an individual has fecal incontinence or requires enemas.|NCI|N|
C4329987|A lymphoma that occurs in cats. It is associated with exposure to feline leukemia virus and feline immunodeficiency virus.|NCI|N|
C4329988|Mammary carcinoma occurring in a cat.|NCI|N|
C4329989|Oral squamous cell carcinoma that occurs in a cat.|NCI|N|
C4329990|Osteosarcoma that occurs in a cat.|NCI|N|
C4329998|KATP-associated hyperinsulinism in which there is an area of adenomatous beta-cell hyperplasia. This condition results from paternal recessive mutation(s) in either the ABCC8 or the KCNJ11 gene and paternal uniparental isodisomy of chromosome region 11p15 with loss of tumor suppressor genes expressed from the maternally inherited chromosome.|NCI|N|
C4329999|A rare group of acquired lipodystrophies that are characterized by loss of subcutaneous tissue from generally small regions of the body, either single or multiple areas, and are not typically associated with metabolic complications. Some cases may involve lipohypertrophy (insulin). This group includes pressure-induced localized lipoatrophy, drug-induced localized lipodystrophy, panniculitis- induced localized lipodystrophy, centrifugal lipodystrophy, and idiopathic localized lipodystrophy.|ORDO|N|
C4330005|A response indicating that a form was not presented or mail to a parent.|NCI|N|
C4330006|A finding indicating the presence of an ependymal tumor in the fourth ventricle of the brain.|NCI|N|
C4330007|A finding indicating the presence of an ependymal tumor in the fourth ventricle and the brain stem.|NCI|N|
C4330008|A response indicating frequent disagreement.|NCI|N|
C4330009|A finding indicating the presence of an ependymal tumor in the frontal lobe of the brain.|NCI|N|
C4330010|A finding indicating the presence of an ependymal tumor in the frontal and parietal lobes of the brain.|NCI|N|
C4330024|A molecular genetic abnormality indicating the presence of a mutation in exon 2 of the GATA1 gene.|NCI|N|
C4330025|A molecular genetic abnormality indicating the presence of a mutation in exon 3 of the GATA1 gene.|NCI|N|
C4330026|A change in the nucleotide sequence of the GATA2 gene.|NCI|N|
C4330030|A cytogenetic abnormality that refers to allelic gain within the chromosomal region 1q21.|NCI|N|
C4330043|A squamous cell carcinoma that arises from the gingival mucosa. It presents as an ulcerated lesion or exophytic mass. The prognosis is usually poor.|NCI|N|
C4330048|Hyperinsulinism due to activating mutation(s) in the gene GCK, encoding glucokinase.|NCI|N|
C4330050|A category of low grade gliomas that includes diffuse astrocytoma, ependymoma, oligodendroglioma, and oligoastrocytoma.|NCI|N|
C4330149|The state when a recipient and their donor have the same alleles for tissue markers. A full match includes HLA-A, HLA-B, HLA-C, and HLA-DRB1. HLA match typing may also include alleles in the HLA-DQ serogroup.|NCI|N|
C4330157|A clinical finding about one or more characteristics of HPV-mediated (p16-positive) oropharyngeal cancer, following the rules of the TNM AJCC v8 classification system as they pertain to distant metastases.|NCI|N|
C4330158|A clinical finding about one or more characteristics of HPV-mediated (p16-positive) oropharyngeal cancer, following the rules of the TNM AJCC v8 classification system as they pertain to staging of regional lymph nodes.|NCI|N|
C4330159|A pathologic finding about one or more characteristics of HPV-mediated (p16-positive) oropharyngeal cancer, following the rules of the TNM AJCC v8 classification system as they pertain to distant metastases.|NCI|N|
C4330160|A pathologic finding about one or more characteristics of HPV-mediated (p16-positive) oropharyngeal cancer, following the rules of the TNM AJCC v8 classification system as they pertain to staging of the primary tumor.|NCI|N|
C4330161|A pathologic finding about one or more characteristics of HPV-mediated (p16-positive) oropharyngeal cancer, following the rules of the TNM AJCC v8 classification system as they pertain to staging of regional lymph nodes.|NCI|N|
C4330162|A pathologic finding about one or more characteristics of HPV-mediated (p16-positive) oropharyngeal cancer, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4330163|A finding about one or more characteristics of HPV-mediated (p16-positive) oropharyngeal cancer, following the rules of the TNM AJCC v8 classification system. Oropharyngeal cancers which are p16-negative are staged according to the classification for oropharynx (p16-negative) and hypopharynx cancers. (from AJCC 8th Ed.)|NCI|N|
C4330164|HPV-mediated (p16-positive) oropharyngeal cancer without evidence of distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4330165|HPV-mediated (p16-positive) oropharyngeal cancer with distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4330166|HPV-mediated (p16-positive) oropharyngeal cancer with metastasis in one or more ipsilateral lymph nodes, none larger than 6 cm. (from AJCC 8th Ed.)|NCI|N|
C4330167|HPV-mediated (p16-positive) oropharyngeal cancer with contralateral or bilateral lymph node metastasis, none larger than 6 cm. (from AJCC 8th Ed.)|NCI|N|
C4330168|HPV-mediated (p16-positive) oropharyngeal cancer with lymph node(s) metastasis, larger than 6 cm. (from AJCC 8th Ed.)|NCI|N|
C4330169|HPV-mediated (p16-positive) oropharyngeal cancer with distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4330170|HPV-mediated (p16-positive) oropharyngeal cancer with no metastasis to regional lymph nodes. (from AJCC 8th Ed.)|NCI|N|
C4330171|HPV-mediated (p16-positive) oropharyngeal cancer with metastasis in four or fewer lymph nodes. (from AJCC 8th Ed.)|NCI|N|
C4330172|HPV-mediated (p16-positive) oropharyngeal cancer with metastasis in more than four lymph nodes. (from AJCC 8th Ed.)|NCI|N|
C4330173|HPV-mediated (p16-positive) oropharyngeal cancer in which the regional lymph nodes cannot be assessed. (from AJCC 8th Ed.)|NCI|N|
C4330174|No primary identified. (from AJCC 8th Ed.)|NCI|N|
C4330175|HPV-mediated (p16-positive) oropharyngeal cancer with tumor 2 cm or smaller in greatest dimension. (from AJCC 8th Ed.)|NCI|N|
C4330176|HPV-mediated (p16-positive) oropharyngeal cancer with tumor larger than 2 cm but not larger than 4 cm in greatest dimension. (from AJCC 8th Ed.)|NCI|N|
C4330177|HPV-mediated (p16-positive) oropharyngeal cancer with tumor larger than 4 cm in greatest dimension or extension to lingual surface of epiglottis. (from AJCC 8th Ed.)|NCI|N|
C4330178|HPV-mediated (p16-positive) oropharyngeal cancer with moderately advanced local disease. Tumor invades the larynx, extrinsic muscle of tongue, medial pterygoid, hard palate, or mandible or beyond. Mucosal extension to lingual surface of epiglottis from primary tumors of the base of the tongue and vallecula does not constitute invasion of the larynx. (from AJCC 8th Ed.)|NCI|N|
C4330179|A term that refers to the clinical staging of HPV-mediated (p16-positive) oropharyngeal carcinoma according to the American Joint Committee on Cancer, 8th edition.|NCI|N|
C4330180|A term that refers to the pathologic staging of HPV-mediated (p16-positive) oropharyngeal carcinoma according to the American Joint Committee on Cancer, 8th edition.|NCI|N|
C4330181|A term that refers to the staging of HPV-mediated (p16-positive) oropharyngeal carcinoma according to the American Joint Committee on Cancer, 8th edition.|NCI|N|
C4330232|A clinical finding about one or more characteristics of head and neck cancer, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4330233|A pathologic finding about one or more characteristics of head and neck cancer, following the rules of the TNM AJCC v8 classification system as they pertain to staging of regional lymph nodes.|NCI|N|
C4330234|A pathologic finding about one or more characteristics of head and neck cancer, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4330235|A finding about one or more characteristics of head and neck cancer, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4330236|Head and neck cancer with metastasis in a single ipsilateral lymph node larger than 3 cm but not larger than 6 cm in greatest dimension and ENE (extranodal extension)(-); or metastases in multiple ipsilateral lymph nodes, none larger than 6 cm in greatest dimension and ENE(-); or metastases in bilateral or contralateral lymph nodes, none larger than 6 cm in greatest dimension, ENE(-). (from AJCC 8th Ed.)|NCI|N|
C4330237|Head and neck cancer with metastasis in a single ipsilateral or contralateral lymph node larger than 3 cm but not larger than 6 cm in greatest dimension and ENE(-). (from AJCC 8th Ed.)|NCI|N|
C4330238|Head and neck cancer with metastasis in multiple ipsilateral lymph nodes, none larger than 6 cm in greatest dimension and ENE(-). (from AJCC 8th Ed.)|NCI|N|
C4330239|Head and neck cancer with metastasis in bilateral or contralateral lymph nodes, none larger than 6 cm in greatest dimension and ENE(-). (from AJCC 8th Ed.)|NCI|N|
C4330240|Head and neck cancer with metastasis in a lymph node larger than 6 cm in greatest dimension and ENE(-); or metastases in a single ipsilateral lymph node ENE(+); or metastases in multiple ipsilateral, contralateral, or bilateral lymph nodes, any with ENE(+). (from AJCC 8th Ed.)|NCI|N|
C4330241|Head and neck cancer with metastasis in a lymph node larger than 6 cm in greatest dimension and ENE(-). (from AJCC 8th Ed.)|NCI|N|
C4330242|Head and neck cancer with metastasis in a single ipsilateral lymph node ENE(+); or metastases in multiple ipsilateral, contralateral, or bilateral lymph nodes, any with ENE(+). (from AJCC 8th Ed.)|NCI|N|
C4330243|Head and neck cancer in which no regional lymph node metastases are detected. (from AJCC 8th Ed.)|NCI|N|
C4330244|Head and neck cancer with metastasis in a single ipsilateral lymph node, 3 cm or smaller in greatest dimension and ENE (extranodal extension)(-). (from AJCC 8th Ed.)|NCI|N|
C4330245|Head and neck cancer with metastasis in a single ipsilateral lymph node 3 cm or smaller in greatest dimension and ENE(+); or metastasis in a single ipsilateral lymph node larger than 3 cm but not larger than 6 cm in greatest dimension and ENE(-); or metastases in multiple ipsilateral lymph nodes, none larger than 6 cm in greatest dimension and ENE(-); or metastases in bilateral or contralateral lymph nodes, none larger than 6 cm in greatest dimension, ENE(-). (from AJCC 8th Ed.)|NCI|N|
C4330246|Head and neck cancer with metastasis in a single ipsilateral lymph node 3 cm or smaller in greatest dimension and ENE(+); or metastasis in a single ipsilateral lymph node larger than 3 cm but not larger than 6 cm in greatest dimension and ENE(-). (from AJCC 8th Ed.)|NCI|N|
C4330247|Head and neck cancer with metastases in multiple ipsilateral lymph nodes, none larger than 6 cm in greatest dimension and ENE(-); (from AJCC 8th Ed.)|NCI|N|
C4330248|Head and neck cancer with metastases in bilateral or contralateral lymph nodes, none larger than 6 cm in greatest dimension and ENE(-). (from AJCC 8th Ed.)|NCI|N|
C4330249|Head and neck cancer with metastasis in a lymph node larger than 6 cm in greatest dimension and ENE(-); or metastases in a single ipsilateral lymph node larger than 3 cm and ENE(+); or metastases in multiple ipsilateral, contralateral, or bilateral lymph nodes, any with ENE(+). (from AJCC 8th Ed.)|NCI|N|
C4330250|Head and neck cancer with metastasis in a lymph node larger than 6 cm in greatest dimension and ENE(-). (from AJCC 8th Ed.)|NCI|N|
C4330251|Head and neck cancer with metastasis in a single ipsilateral lymph node larger than 3 cm in greatest dimension and ENE(+); or metastases in multiple ipsilateral, contralateral, or bilateral lymph nodes, any with ENE(+). (from AJCC 8th Ed.)|NCI|N|
C4330253|A response indicating that an individual did not have hearing problems or hearing problems did not interfere with activities.|NCI|N|
C4330255|Hyperinsulinism due to mutation(s) in the gene HNF1A, encoding the transcription factor hepatocyte nuclear factor 1-alpha. This condition may progress to diabetes later in life.|NCI|N|
C4330256|Hyperinsulinism due to mutation(s) in the gene HNF4A, encoding the transcription factor hepatocyte nuclear factor 4-alpha. This condition may progress to diabetes later in life.|NCI|N|
C4330257|An autosomal recessive, inherited coagulation disorder characterized by the partial or complete absence of tissue factor (factor III) activity in the blood.|NCI|N|
C4330259|Decreased activity of hexose-6-phosphatase due to autosomal recessive mutation(s) in the H6PD gene. This enzyme is necessary to generate NADPH, a cofactor in the 11-beta-hydroxysteroid dehydrogenase pathway required for conversion of cortisone to cortisol. The condition is characterized by hyperandrogenism as a result of increased adrenocorticotropic hormone stimulation of the adrenal gland due to failure of cortisol-mediated down-regulation, and is clinically indistinguishable from 11-beta HSD type 1 deficiency.|NCI|N|
C4330260|Skin that is abnormally dry and stiff, lacking pliancy and closely adhered to the underlying flesh.|NCI|N|
C4330261|A response indicating a high level of confidence.|NCI|N|
C4330265|A rare B-cell non-Hodgkin lymphoma that is characterized by the abnormal rearrangement of MYC gene, BCL2 gene, and BCL6 gene. Patients with this type of lymphoma usually respond poorly to standard treatments and have a poor prognosis.|NCI|N|
C4330338|Transient hypoglycemia that occurs in the infant of a diabetic mother due to increased postnatal insulin release as a result of in utero exposure to maternal hyperglycemia.|NCI|N|
C4330340|Hypogonadotropic hypogonadism with congenital adrenal hypoplasia associated with mutation(s) in the NR0B1 gene (on the X chromosome).|NCI|N|
C4330342|A clinical finding about one or more characteristics of hypopharyngeal cancer, following the rules of the TNM AJCC v8 classification system as they pertain to distant metastases.|NCI|N|
C4330343|A clinical finding about one or more characteristics of hypopharyngeal cancer, following the rules of the TNM AJCC v8 classification system as they pertain to staging of regional lymph nodes.|NCI|N|
C4330344|A clinical finding about one or more characteristics of hypopharyngeal cancer, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4330345|A pathologic finding about one or more characteristics of hypopharyngeal cancer, following the rules of the TNM AJCC v8 classification system as they pertain to distant metastases.|NCI|N|
C4330346|A pathologic finding about one or more characteristics of hypopharyngeal cancer, following the rules of the TNM AJCC v8 classification system as they pertain to staging of the primary tumor.|NCI|N|
C4330347|A pathologic finding about one or more characteristics of hypopharyngeal cancer, following the rules of the TNM AJCC v8 classification system as they pertain to staging of regional lymph nodes.|NCI|N|
C4330348|A pathologic finding about one or more characteristics of hypopharyngeal cancer, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4330349|A finding about one or more characteristics of hypopharyngeal cancer, following the rules of the TNM AJCC v8 classification system. This staging system applies to all cancers of the hypopharynx. Minor salivary gland carcinomas and neuroendocrine carcinomas of the hypopharynx are included in this classification. (from AJCC 8th Ed.)|NCI|N|
C4330350|Hypopharyngeal cancer without evidence of distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4330351|Hypopharyngeal cancer with distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4330352|Hypopharyngeal cancer with no metastasis to regional lymph nodes. (from AJCC 8th Ed.)|NCI|N|
C4330353|Hypopharyngeal cancer with metastasis in a single ipsilateral lymph node, 3 cm or smaller in greatest dimension and ENE (-). (from AJCC 8th Ed.)|NCI|N|
C4330354|Hypopharyngeal cancer with metastasis in a single ipsilateral lymph node larger than 3 cm but not larger than 6 cm in greatest dimension and ENE(-); or metastases in multiple ipsilateral lymph nodes, none larger than 6 cm in greatest dimension and ENE(-); or metastases in bilateral or contralateral lymph nodes, none larger than 6 cm in greatest dimension and ENE(-). (from AJCC 8th Ed.)|NCI|N|
C4330355|Hypopharyngeal cancer with metastasis in a single ipsilateral lymph node larger than 3 cm but not larger than 6 cm in greatest dimension and ENE(-). (from AJCC 8th Ed.)|NCI|N|
C4330356|Hypopharyngeal cancer with metastases in multiple ipsilateral lymph nodes, none larger than 6 cm in greatest dimension and ENE(-). (from AJCC 8th Ed.)|NCI|N|
C4330357|Hypopharyngeal cancer with metastases in bilateral or contralateral lymph nodes, none larger than 6 cm in greatest dimension and ENE(-). (from AJCC 8th Ed.)|NCI|N|
C4330358|Hypopharyngeal cancer with metastasis in a lymph node larger than 6 cm in greatest dimension and ENE(-); or metastasis in any node(s) and clinically overt ENE(+). (from AJCC 8th Ed.)|NCI|N|
C4330359|Hypopharyngeal cancer with metastasis in a lymph node larger than 6 cm in greatest dimension and ENE(-). (from AJCC 8th Ed.)|NCI|N|
C4330360|Hypopharyngeal cancer with metastasis in any node(s) and clinically overt ENE(+). (from AJCC 8th Ed.)|NCI|N|
C4330361|Hypopharyngeal cancer in which the regional lymph nodes cannot be assessed. (from AJCC 8th Ed.)|NCI|N|
C4330362|Hypopharyngeal cancer with distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4330363|Hypopharyngeal cancer with no metastasis to regional lymph nodes. (from AJCC 8th Ed.)|NCI|N|
C4330364|Hypopharyngeal cancer with metastasis in a single ipsilateral lymph node, 3 cm or smaller in greatest dimension and ENE (-). (from AJCC 8th Ed.)|NCI|N|
C4330365|Hypopharyngeal cancer with metastasis in a single ipsilateral lymph node, 3 cm or smaller in greatest dimension and ENE(+); or larger than 3 cm but not larger than 6 cm in greatest dimension and ENE(-); or metastases in multiple ipsilateral lymph nodes, none larger than 6 cm in greatest dimension and ENE(-); or metastases in bilateral or contralateral lymph nodes, none larger than 6 cm in greatest dimension and ENE(-). (from AJCC 8th Ed.)|NCI|N|
C4330366|Hypopharyngeal cancer with metastasis in a single ipsilateral lymph node, 3 cm or smaller in greatest dimension and ENE(+); or a single ipsilateral lymph node larger than 3 cm but not larger than 6 cm in greatest dimension and ENE(-). (from AJCC 8th Ed.)|NCI|N|
C4330367|Hypopharyngeal cancer with metastases in multiple ipsilateral lymph nodes, none larger than 6 cm in greatest dimension and ENE(-). (from AJCC 8th Ed.)|NCI|N|
C4330368|Hypopharyngeal cancer with metastases in bilateral or contralateral lymph nodes, none larger than 6 cm in greatest dimension and ENE(-). (from AJCC 8th Ed.)|NCI|N|
C4330369|Hypopharyngeal cancer with metastasis in a lymph node larger than 6 cm in greatest dimension and ENE(-); or metastasis in a single ipsilateral lymph node larger than 3 cm in greatest dimension and ENE(+); or metastases in multiple ipsilateral, contralateral, or bilateral lymph nodes any with ENE(+). (from AJCC 8th Ed.)|NCI|N|
C4330370|Hypopharyngeal cancer with metastasis in a lymph node larger than 6 cm in greatest dimension and ENE(-). (from AJCC 8th Ed.)|NCI|N|
C4330371|Hypopharyngeal cancer with metastasis in a single ipsilateral lymph node larger than 3 cm in greatest dimension and ENE(+); or metastases in multiple ipsilateral, contralateral, or bilateral lymph nodes any with ENE(+). (from AJCC 8th Ed.)|NCI|N|
C4330372|Hypopharyngeal cancer in which the regional lymph nodes cannot be assessed. (from AJCC 8th Ed.)|NCI|N|
C4330373|Hypopharyngeal cancer with tumor limited to one subsite of hypopharynx and/or 2 cm or smaller in greatest dimension. (from AJCC 8th Ed.)|NCI|N|
C4330374|Hypopharyngeal cancer with tumor invading more than one subsite of hypopharynx or an adjacent site, or measuring more than 2 cm but not more than 4 cm in greatest dimension without fixation of hemilarynx. (from AJCC 8th Ed.)|NCI|N|
C4330375|Hypopharyngeal cancer with tumor larger than 4 cm in greatest dimension or with fixation of hemilarynx or extension to esophagus. (from AJCC 8th Ed.)|NCI|N|
C4330376|Hypopharyngeal cancer with moderately advanced or very advanced local disease. (from AJCC 8th Ed.)|NCI|N|
C4330377|Hypopharyngeal cancer with moderately advanced local disease. Tumor invades thyroid/cricoid cartilage, hyoid bone, thyroid gland, or central compartment soft tissue. Central compartment soft tissue includes prelaryngeal strap muscles and subcutaneous fat. (from AJCC 8th Ed.)|NCI|N|
C4330378|Hypopharyngeal cancer in which the primary tumor cannot be assessed. (from AJCC 8th Ed.)|NCI|N|
C4330379|Hypopharyngeal cancer with a finding of carcinoma in situ. (from AJCC 8th Ed.)|NCI|N|
C4330380|A term that refers to the staging of hypopharyngeal carcinoma according to the American Joint Committee on Cancer, 8th edition.|NCI|N|
C4330381|Decreased concentration of thyroxine.|NCI|N|
C4330383|A nucleotide substitution at position 356 of the coding sequence of the IDH1 gene where guanine has been mutated to adenine.|NCI|N|
C4330384|A nucleotide substitution at position 394 of the coding sequence of the IDH1 gene where cytosine has been mutated to adenine.|NCI|N|
C4330385|A nucleotide substitution at position 394 of the coding sequence of the IDH1 gene where cytosine has been mutated to guanine.|NCI|N|
C4330386|A nucleotide substitution at position 394 of the coding sequence of the IDH1 gene where cytosine has been mutated to thymine.|NCI|N|
C4330387|A complex substitution where the nucleotide sequence at positions 394 and 395 of the coding sequence of the IDH1 gene has changed from cytosine-guanine to thymine-cytosine.|NCI|N|
C4330388|A nucleotide substitution at position 395 of the coding sequence of the IDH1 gene where guanine has been mutated to thymine.|NCI|N|
C4330389|A change in the amino acid residue at position 119 in the isocitrate dehydrogenase [NADP] cytoplasmic protein where arginine has been replaced by glutamine.|NCI|N|
C4330390|A change in the amino acid residue at position 132 in the isocitrate dehydrogenase [NADP] cytoplasmic protein where arginine has been replaced by cysteine.|NCI|N|
C4330391|A change in the amino acid residue at position 132 in the isocitrate dehydrogenase [NADP] cytoplasmic protein where arginine has been replaced by leucine.|NCI|N|
C4330392|A change in the amino acid residue at position 132 in the isocitrate dehydrogenase [NADP] cytoplasmic protein where arginine has been replaced by serine.|NCI|N|
C4330393|A nucleotide substitution at position 514 of the coding sequence of the IDH2 gene where adenine has been mutated to guanine.|NCI|N|
C4330394|A nucleotide substitution at position 515 of the coding sequence of the IDH2 gene where guanine has been mutated to adenine.|NCI|N|
C4330395|A nucleotide substitution at position 515 of the coding sequence of the IDH2 gene where guanine has been mutated to thymine.|NCI|N|
C4330396|A complex substitution where the nucleotide sequence at positions 515 and 516 of the coding sequence of the IDH1 gene has changed from guanine-guanine to adenine-adenine.|NCI|N|
C4330397|A change in the amino acid residue at position 172 in the isocitrate dehydrogenase [NADP], mitochondrial protein where arginine has been replaced by glycine.|NCI|N|
C4330398|A change in the amino acid residue at position 172 in the isocitrate dehydrogenase [NADP], mitochondrial protein where arginine has been replaced by lysine.|NCI|N|
C4330399|A change in the amino acid residue at position 172 in the isocitrate dehydrogenase [NADP], mitochondrial protein where arginine has been replaced by methionine.|NCI|N|
C4330469|Contrasexual pubertal development caused by medical intervention.|NCI|N|
C4330470|Hypoparathyroidism resulting from medical treatment or intervention.|NCI|N|
C4330471|Primary hypothyroidism due to medical or surgical treatment.|NCI|N|
C4330472|Ketotic hypoglycemia that usually occurs in young, thin children in association with infection or fasting, and which typically resolves by age 6-8 years.|NCI|N|
C4330478|A marked increase in contrast enhancement that is not due to actual tumor growth, but that may be due to a reaction to immunotherapy.|NCI|N|
C4330480|Mutation(s) in the TSHR gene, resulting in decreased function of the thyroid stimulating hormone receptor.|NCI|N|
C4330481|A response indicating that an individual is independent of others for bathing in the tub or shower.|NCI|N|
C4330482|A response indicating that an individual can eat independently of help from others when food is provided within reach.|NCI|N|
C4330483|A response indicating that an individual can use the toilet independently of help from others.|NCI|N|
C4330484|A non-neoplastic T-cell lymphoproliferation that may mimic T-lymphoblastic lymphoma. It usually involves the lymphoid tissues of the upper aerodigestive tract. It recurs locally, but systemic dissemination is rare.|NCI|N|
C4330489|A finding indicating the presence of an ependymal tumor in the infratentorial region of the brain.|NCI|N|
C4330490|A finding indicating the presence of an ependymal tumor in the infratentorial region of the brain and spinal cord.|NCI|N|
C4330492|Insulin resistance caused by inactivating mutation(s) in the INSR gene encoding the insulin receptor.|NCI|N|
C4330495|A benign fibrous histiocytoma involving the dura or cranial bone.|NCI|N|
C4330503|A subtype of micronodular adrenal hyperplasia, characterized by multiple non-pigmented nodules.|NCI|N|
C4330504|A change in the nucleotide sequence of the JAK1 gene.|NCI|N|
C4330508|A response indicating that an individual usually uses a jar opener for jars that were previously opened.|NCI|N|
C4330509|Diabetes mellitus caused by activating mutation(s) in genes (KNCJ11 and/or ABCC8) encoding either of the 2 proteins (Kir6.2 and/or SUR1) that make up the pancreatic beta cell adenosine triphosphate-sensitive potassium channel, which is crucial for the regulation of glucose-induced insulin secretion.|NCI|N|
C4330510|Hyperinsulinism caused by non-functional beta-cell ATP-sensitive potassium channels due to inactivating mutation(s) in either the ABCC8 or KCNJ11 gene.|NCI|N|
C4330513|A molecular genetic abnormality indicating the presence of multiple copies of the KDR gene.|NCI|N|
C4330514|A change in the nucleotide sequence of the KDR gene.|NCI|N|
C4330516|A change in the nucleotide sequence of the KEAP1 gene.|NCI|N|
C4330518|A nucleotide substitution at position 436 of the coding sequence of the KRAS gene where guanine has been mutated to adenine.|NCI|N|
C4330519|A change in the amino acid residue at position 146 in the GTPase Kras protein where alanine has been replaced by threonine.|NCI|N|
C4330520|Regions of hypermutation that are found in clusters and are localized to one or more hot spots in the genome.|NCI|N|
C4330524|Diabetes mellitus caused by activating mutation(s) in the KCNJ11 gene, encoding the inwardly rectifying Kir6.2 subunit of the pancreatic beta cell adenosine triphosphate-sensitive potassium channel. Note: Inactivating mutation(s) in the KCNJ11 gene result in hyperinsulinism.|NCI|N|
C4330530|Absent or incomplete development of adrenal androgen-mediated secondary sexual characteristics.|NCI|N|
C4330531|A histological variant of medulloblastoma, an embryonic malignancy, associated with extremely low survival rates and a high risk of metastatic disease and manifesting with symptoms of increased intracranial pressure such as vomiting, headache, listlessness, papilledema and diplopia.|ORDO|N|
C4330534|A finding indicating the presence of an ependymal tumor in a lateral ventricle of the brain.|NCI|N|
C4330547|A clinical finding about one or more characteristics of lip and oral cavity cancer, following the rules of the TNM AJCC v8 classification system as they pertain to distant metastases.|NCI|N|
C4330548|A clinical finding about one or more characteristics of lip and oral cavity cancer, following the rules of the TNM AJCC v8 classification system as they pertain to staging of regional lymph nodes.|NCI|N|
C4330549|A clinical finding about one or more characteristics of lip and oral cavity cancer, following the rules of the TNM AJCC v8 classification system. The assessment of the primary tumor is based on inspection and palpation of the oral cavity and neck. Additional studies may include CT, MRI, or ultrasound. (from AJCC 8th Ed.)|NCI|N|
C4330550|A pathologic finding about one or more characteristics of lip and oral cavity cancer, following the rules of the TNM AJCC v8 classification system as they pertain to distant metastases. There is no pathologic M0 for lip and oral cavity cancer.|NCI|N|
C4330551|A pathologic finding about one or more characteristics of lip and oral cavity cancer, following the rules of the TNM AJCC v8 classification system as they pertain to staging of the primary tumor.|NCI|N|
C4330552|A pathologic finding about one or more characteristics of lip and oral cavity cancer, following the rules of the TNM AJCC v8 classification system as they pertain to staging of regional lymph nodes.|NCI|N|
C4330553|A pathologic finding about one or more characteristics of lip and oral cavity cancer, following the rules of the TNM AJCC v8 classification system. The pathologic staging is determined after the complete resection of the primary site and/or regional nodal dissection, followed by pathologic examination of the resected specimen(s). (from AJCC 8th Ed.)|NCI|N|
C4330554|A finding about one or more characteristics of lip and oral cavity cancer, following the rules of the TNM AJCC v8 classification system. Cutaneous squamous cell carcinoma of the vermilion lip, nonepithelial tumors such as those of lymphoid tissue, soft tissue, bone, cartilage, and mucosal melanoma are not included in this classification. (from AJCC 8th Ed.)|NCI|N|
C4330555|A term that refers to the staging of lip and oral cavity carcinoma according to the American Joint Committee on Cancer, 6th and 7th editions.|NCI|N|
C4330556|A term that refers to the staging of lip and oral cavity carcinoma according to the American Joint Committee on Cancer, 8th edition.|NCI|N|
C4330557|Lip and oral cavity cancer without evidence of distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4330558|Lip and oral cavity cancer with distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4330559|Lip and oral cavity cancer with metastasis in a single ipsilateral lymph node larger than 3 cm but not larger than 6 cm in greatest dimension and ENE(-); or metastases in multiple ipsilateral lymph nodes, none larger than 6 cm in greatest dimension and ENE(-); or metastases in bilateral or contralateral lymph nodes, none larger than 6 cm in greatest dimension, and ENE(-). (from AJCC 8th Ed.)|NCI|N|
C4330560|Lip and oral cavity cancer with metastasis in a single ipsilateral lymph node larger than 3 cm but not larger than 6 cm in greatest dimension and ENE(-). (from AJCC 8th Ed.)|NCI|N|
C4330561|Lip and oral cavity cancer with metastases in multiple ipsilateral lymph nodes, none larger than 6 cm in greatest dimension and ENE(-). (from AJCC 8th Ed.)|NCI|N|
C4330562|Lip and oral cavity cancer with metastases in bilateral or contralateral lymph nodes, none larger than 6 cm in greatest dimension, and ENE(-). (from AJCC 8th Ed.)|NCI|N|
C4330563|Lip and oral cavity cancer with metastasis in a lymph node larger than 6 cm in greatest dimension and ENE(-); or metastasis in any node(s) and clinically overt ENE(+). (from AJCC 8th Ed.)|NCI|N|
C4330564|Lip and oral cavity cancer with metastasis in a lymph node larger than 6 cm in greatest dimension and ENE(-). (from AJCC 8th Ed.)|NCI|N|
C4330565|Lip and oral cavity cancer with metastasis in any node(s) and clinically overt ENE(+). (from AJCC 8th Ed.)|NCI|N|
C4330566|Lip and oral cavity cancer with distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4330567|Lip and oral cavity cancer with no metastasis to regional lymph nodes. (from AJCC 8th Ed.)|NCI|N|
C4330568|Lip and oral cavity cancer with metastasis in a single ipsilateral lymph node, 3 cm or smaller in greatest dimension and ENE(-). (from AJCC 8th Ed.)|NCI|N|
C4330569|Lip and oral cavity cancer with metastasis in a single ipsilateral lymph node, 3 cm or smaller in greatest dimension and ENE(+); or larger than 3 cm but not larger than 6 cm in greatest dimension and ENE (-); or metastases in multiple ipsilateral lymph nodes, none larger than 6 cm in greatest dimension and ENE(-); or metastases in bilateral or contralateral lymph nodes, none larger than 6 cm in greatest dimension, ENE(-). (from AJCC 8th Ed.)|NCI|N|
C4330570|Lip and oral cavity cancer with metastasis in a single ipsilateral lymph node, 3 cm or smaller in greatest dimension and ENE(+); or a single ipsilateral node larger than 3 cm but not larger than 6 cm in greatest dimension and ENE (-). (from AJCC 8th Ed.)|NCI|N|
C4330571|Lip and oral cavity cancer with metastases in multiple ipsilateral lymph nodes, none larger than 6 cm in greatest dimension and ENE(-). (from AJCC 8th Ed.)|NCI|N|
C4330572|Lip and oral cavity cancer with metastases in bilateral or contralateral lymph nodes, none larger than 6 cm in greatest dimension and ENE(-). (from AJCC 8th Ed.)|NCI|N|
C4330573|Lip and oral cavity cancer with metastasis in a lymph node larger than 6 cm in greatest dimension and ENE (-); or in a single ipsilateral lymph node larger than 3 cm in greatest dimension and ENE(+); or metastases in multiple ipsilateral, contralateral or bilateral lymph nodes any with ENE(+). (from AJCC 8th Ed.)|NCI|N|
C4330574|Lip and oral cavity cancer with metastasis in a lymph node larger than 6 cm in greatest dimension and ENE (-). (from AJCC 8th Ed.)|NCI|N|
C4330575|Lip and oral cavity cancer with metastasis in a single ipsilateral lymph node larger than 3 cm in greatest dimension and ENE(+); or metastases in multiple ipsilateral, contralateral or bilateral lymph nodes any with ENE(+). (from AJCC 8th Ed.)|NCI|N|
C4330576|Lip and oral cavity cancer in which the regional lymph nodes cannot be assessed. (from AJCC 8th Ed.)|NCI|N|
C4330577|Lip and oral cavity cancer with tumor size 2 cm or less in greatest dimension and 5 mm or less depth of invasion (DOI). DOI is depth of invasion and not tumor thickness. (from AJCC 8th Ed.)|NCI|N|
C4330578|Lip and oral cavity cancer with tumor size 2 cm or less in greatest dimension, DOI greater than 5 mm and equal or less than 10 mm or tumor greater than 2 cm but 4 cm or less in greatest dimension and 10 mm or less DOI. (from AJCC 8th Ed.)|NCI|N|
C4330579|Lip and oral cavity cancer with tumor size greater than 4 cm or any tumor greater than 10 mm DOI. (from AJCC 8th Ed.)|NCI|N|
C4330580|Lip and oral cavity cancer with moderately advanced or very advanced local disease. (from AJCC 8th Ed.)|NCI|N|
C4330581|Lip and oral cavity cancer with moderately advanced local disease. For lip: Tumor invades through cortical bone or involves the inferior alveolar nerve, floor of mouth, or skin of face (i.e., chin or nose). For oral cavity: Tumor invades adjacent structures only (e.g., through cortical bone of the mandible or maxilla, or involves the maxillary sinus or skin of face). Note: Superficial erosion of bone/tooth socket (alone) by a gingival primary is not sufficient to classify a tumor as T4. (from AJCC 8th Ed.)|NCI|N|
C4330582|Lip and oral cavity cancer with very advanced local disease. Tumor invades masticator space, pterygoid plates, or skull base and/or encases the internal carotid artery. (from AJCC 8th Ed.)|NCI|N|
C4330583|Lip and oral cavity cancer in which the primary tumor cannot be assessed. (from AJCC 8th Ed.)|NCI|N|
C4330584|Lip and oral cavity cancer with a finding of carcinoma in situ. (from AJCC 8th Ed.)|NCI|N|
C4330585|A finding indicating the formation of liquid areas in a tissue sample.|NCI|N|
C4330590|A response indicating a low level of confidence.|NCI|N|
C4330593|A finding indicating the presence of an ependymal tumor in the lumbosacral region of spinal cord.|NCI|N|
C4330599|A molecular genetic abnormality indicating the presence of a splice site mutation that results in a loss of transcription of exon 14 of the MET gene.|NCI|N|
C4330601|A glioblastoma characterized by the absence of DNA methylation in the promoter region of the MGMT gene. It is associated with a poor outcome.|NCI|N|
C4330604|A change in the nucleotide sequence of the MRE11 gene.|NCI|N|
C4330605|A nucleotide substitution at position 1906 of the coding sequence of the MSH2 gene where guanine has been mutated to cytosine.|NCI|N|
C4330606|A change in the amino acid residue at position 636 in DNA mismatch repair protein Msh2 where alanine has been replaced by proline.|NCI|N|
C4330607|A variation in the amino acid sequence for DNA mismatch repair protein Msh2.|NCI|N|
C4330613|A molecularly distinct large B-cell lymphoma reminiscent of Burkitt lymphoma. It is characterized by the absence of MYC translocation and the presence of chromosome 11q aberrations.|NCI|N|
C4330616|A cytogenetic finding indicating Philadelphia chromosome positivity less than or equal to 35% in a patient treated for chronic myelogenous leukemia, BCR-ABL1 positive.|NCI|N|
C4330617|A response indicating that an individual can transfer and sit, but needs major, physical help from one or two people.|NCI|N|
C4330618|A clinical finding about one or more characteristics of major salivary gland cancer, following the rules of the TNM AJCC v8 classification system as they pertain to distant metastases.|NCI|N|
C4330619|A clinical finding about one or more characteristics of major salivary gland cancer, following the rules of the TNM AJCC v8 classification system as they pertain to staging of regional lymph nodes.|NCI|N|
C4330620|A clinical finding about one or more characteristics of major salivary gland cancer, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4330621|A pathologic finding about one or more characteristics of major salivary gland cancer, following the rules of the TNM AJCC v8 classification system as they pertain to distant metastases.|NCI|N|
C4330622|A pathologic finding about one or more characteristics of major salivary gland cancer, following the rules of the TNM AJCC v8 classification system as they pertain to staging of the primary tumor.|NCI|N|
C4330623|A pathologic finding about one or more characteristics of major salivary gland cancer, following the rules of the TNM AJCC v8 classification system as they pertain to staging of regional lymph nodes.|NCI|N|
C4330624|A pathologic finding about one or more characteristics of major salivary gland cancer, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4330625|A finding about one or more characteristics of major salivary gland cancer, following the rules of the TNM AJCC v8 classification system. This classification does not apply to lymphomas and minor salivary gland cancers. (from AJCC 8th Ed.)|NCI|N|
C4330626|A term that refers to the staging of major salivary gland cancer according to the American Joint Committee on Cancer, 7th edition.|NCI|N|
C4330627|A term that refers to the staging of major salivary gland cancer according to the American Joint Committee on Cancer, 8th edition.|NCI|N|
C4330628|Major salivary gland cancer without evidence of distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4330629|Major salivary gland cancer with distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4330630|Major salivary gland cancer with metastasis in a single ipsilateral lymph node larger than 3 cm but not larger than 6 cm in greatest dimension and ENE(-); or metastases in multiple ipsilateral lymph nodes, none larger than 6 cm in greatest dimension and ENE(-), or in bilateral or contralateral lymph nodes, none larger than 6 cm in greatest dimension and ENE(-). (from AJCC 8th Ed.)|NCI|N|
C4330631|Major salivary gland cancer with metastasis in a single ipsilateral lymph node larger than 3 cm but not larger than 6 cm in greatest dimension and ENE(-). (from AJCC 8th Ed.)|NCI|N|
C4330632|Major salivary gland cancer with metastasis in multiple ipsilateral lymph nodes, none larger than 6 cm in greatest dimension and ENE(-). (from AJCC 8th Ed.)|NCI|N|
C4330633|Major salivary gland cancer with metastasis in bilateral or contralateral lymph nodes, none larger than 6 cm in greatest dimension and ENE(-). (from AJCC 8th Ed.)|NCI|N|
C4330634|Major salivary gland cancer with metastasis in a lymph node larger than 6 cm in greatest dimension and ENE(-); or metastasis in any node(s) with clinically overt ENE(+). (from AJCC 8th Ed.)|NCI|N|
C4330635|Major salivary gland cancer with metastasis in a lymph node larger than 6 cm in greatest dimension and ENE(-). (from AJCC 8th Ed.)|NCI|N|
C4330636|Major salivary gland cancer with metastasis in any node(s) with clinically overt ENE(+). (from AJCC 8th Ed.)|NCI|N|
C4330637|Major salivary gland cancer with distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4330638|Major salivary gland cancer with no metastasis to regional lymph nodes. (from AJCC 8th Ed.)|NCI|N|
C4330639|Major salivary gland cancer with metastasis in a single ipsilateral lymph node, 3 cm or less in greatest dimension and ENE(-). (from AJCC 8th Ed.)|NCI|N|
C4330640|Major salivary gland cancer with metastasis in a single ipsilateral lymph node, 3 cm or less in greatest dimension and ENE(+); or more than 3 cm but not more than 6 cm in greatest dimension and ENE(-); or metastases in multiple ipsilateral lymph nodes, none more than 6 cm in greatest dimension and ENE(-), or in bilateral or contralateral lymph nodes, none more than 6 cm in greatest dimension and ENE(-). (from AJCC 8th Ed.)|NCI|N|
C4330641|Major salivary gland cancer with metastasis in a single ipsilateral lymph node, 3 cm or less in greatest dimension and ENE(+); or a single ipsilateral node more than 3 cm but not more than 6 cm in greatest dimension and ENE(-). (from AJCC 8th Ed.)|NCI|N|
C4330642|Major salivary gland cancer with metastasis in bilateral or contralateral lymph nodes, none more than 6 cm in greatest dimension and ENE(-). (from AJCC 8th Ed.)|NCI|N|
C4330643|Major salivary gland cancer with metastasis in a lymph node larger than 6 cm in greatest dimension and ENE(-); or in a single ipsilateral node larger than 3 cm in greatest dimension and ENE(+); or multiple ipsilateral, contralateral, or bilateral nodes any with ENE(+). (from AJCC 8th Ed.)|NCI|N|
C4330644|Major salivary gland cancer with metastasis in a lymph node larger than 6 cm in greatest dimension and ENE(-). (from AJCC 8th Ed.)|NCI|N|
C4330645|Major salivary gland cancer with metastasis in a single ipsilateral node larger than 3 cm in greatest dimension and ENE(+); or multiple ipsilateral, contralateral, or bilateral nodes any with ENE(+). (from AJCC 8th Ed.)|NCI|N|
C4330646|Major salivary gland cancer in which the regional lymph nodes cannot be assessed. (from AJCC 8th Ed.)|NCI|N|
C4330647|Major salivary gland cancer with no evidence of a primary tumor. (from AJCC 8th Ed.)|NCI|N|
C4330648|Major salivary gland cancer with tumor 2 cm or less in greatest dimension without extraparenchymal extension. Extraparenchymal extension is clinical or macroscopic evidence of invasion of soft tissues. Microscopic evidence alone does not constitute extraparenchymal extension for classification purposes. (from AJCC 8th Ed.)|NCI|N|
C4330649|Major salivary gland cancer with tumor more than 2 cm, but not more than 4 cm in greatest dimension without extraparenchymal extension. Extraparenchymal extension is clinical or macroscopic evidence of invasion of soft tissues. Microscopic evidence alone does not constitute extraparenchymal extension for classification purposes. (from AJCC 8th Ed.)|NCI|N|
C4330650|Major salivary gland cancer with tumor more than 4 cm in greatest dimension, and/or tumor having extraparenchymal extension. Extraparenchymal extension is clinical or macroscopic evidence of invasion of soft tissues. Microscopic evidence alone does not constitute extraparenchymal extension for classification purposes. (from AJCC 8th Ed.)|NCI|N|
C4330651|Moderately advanced or very advanced major salivary gland cancer. (from AJCC 8th Ed.)|NCI|N|
C4330652|Moderately advanced major salivary gland cancer. Tumor invades skin, mandible, ear canal, and/or facial nerve. (from AJCC 8th Ed.)|NCI|N|
C4330653|Very advanced major salivary gland cancer. Tumor invades skull base and/or pterygoid plates and/or encases carotid artery. (from AJCC 8th Ed.)|NCI|N|
C4330654|Major salivary gland cancer in which the primary tumor cannot be assessed. (from AJCC 8th Ed.)|NCI|N|
C4330655|Major salivary gland cancer with a finding of carcinoma in situ. (from AJCC 8th Ed.)|NCI|N|
C4330658|A rare, low-grade carcinoma of the salivary gland with favorable clinical outcome. It usually arises from the parotid gland and less often from the minor salivary glands. It shares the same histopathologic features and molecular characteristics (ETV6 gene rearrangement) with secretory breast carcinoma.|NCI|N|
C4330659|A mammographic finding of heterogeneously or extremely dense breast composition, as defined by the visually estimated content of fibroglandular-density tissue within the breast, based on updated editions of the American College of Radiology''s Breast Imaging Reporting and Data System (BI-RADS).|NCI|N|
C4330665|Medulloblastoma not associated with activation of the WNT pathway or sonic hedgehog (SHH) pathway. MYC amplifications may be present. TP53 mutations are absent. Patients in this group are usually young children. The overall survival is the worst among all the molecular groups.|NCI|N|
C4330666|Medulloblastoma not associated with activation of the WNT pathway or sonic hedgehog (SHH) pathway. MYC amplifications are absent. TP53 mutations are absent. Chromosome 17 abnormalities may be present.|NCI|N|
C4330667|Medulloblastoma not associated with activation of the WNT pathway or sonic hedgehog (SHH) pathway. TP53 mutations are absent. This molecular subtype includes medulloblastomas numerically designated as ""group 3"" and ""group 4"".|NCI|N|
C4330668|A medulloblastoma which has not been further characterized.|NCI|N|
C4330669|Medulloblastoma associated with activation of the sonic hedgehog (SHH) pathway and the presence of TP53 mutations.|NCI|N|
C4330670|Medulloblastoma associated with activation of the sonic hedgehog (SHH) pathway and the absence of TP53 mutations.|NCI|N|
C4330671|A molecular subtype of medulloblastoma associated with activation of the sonic hedgehog (SHH) pathway. TP53 mutations may be present or absent. Patients in this group are young children and adults. Overall survival is variable and depends on the presence or absence of metastatic disease, histology, and the age at diagnosis.|NCI|N|
C4330673|An indication as to whether a malignancy has appeared at sites distant to the primary site of disease.|NCI|N|
C4330674|A malignant germ cell tumor that has spread from its original site of growth to another anatomic site.|NCI|N|
C4330675|A carcinoma that arises from the prostate gland and has spread to the soft tissues.|NCI|N|
C4330688|An autosomal recessive or sporadic form of adrenal hypoplasia congenita frequently associated with central nervous system anomalies including anencephaly and pituitary defects. Histologically the adrenal gland is distinguished by the absence of fetal adrenal cortex and the presence of a small amount of normal, permanent adult adrenal cortex.|NCI|N|
C4330690|A response indicating that an individual needs minor verbal or physical help to transfer.|NCI|N|
C4330695|Diabetes mellitus caused by mutation(s) in mitochondrial DNA.|NCI|N|
C4330696|Hyperinsulinism due to inactivating mutation(s) in the gene HADH, encoding mitochondrial (short-chain) hydroxyacyl-coenzyme A dehydrogenase, resulting in loss of inhibition of glutamate dehydrogenase (GDH). This condition is also characterized by protein-induced hypoglycemia, but in contrast to GLUD1-associated hyperinsulinism, hyperammonemia is absent.|NCI|N|
C4330697|Hyperinsulinism due to mutation(s) in the gene UCP2, encoding mitochondrial uncoupling protein 2, which plays a role in attenuating insulin secretion.|NCI|N|
C4330703|A mutation that occurs on one allele of a gene.|NCI|N|
C4330706|A genetically heterogenous group of hyperinsulinemic conditions caused by mutation(s) in one of the many genes involved in the regulation of insulin secretion.|NCI|N|
C4330708|A response indicating that something occurs more than half the time.|NCI|N|
C4330710|A malignant germ-cell neoplasm arising from pluripotent cells, including components from the epithelial germ-cell layer, which occurs in a mouse.|NCI|N|
C4330718|A condition characterized by Mullerian duct aplasia, unilateral renal dysplasia, and cervicothoracic anomalies. Other associated findings may include skeletal abnormalities (scoliosis, vertebral anomalies, rib malformations, spina bifida), and face and limb malformations (brachymesophalangy, ectrodactyly). Heart malformations may include valvular pulmonary stenosis, aortopulmonary window, atrial septal defect, and/or tetralogy of Fallot. Putative candidate genes such as HNF1B (17q12), LHX1 (17q12), SHOX (Xp22.33 and Yp11.32), TBX6 ( 16p11.2), and ITIH5 (10p14) may be implicated.|NCI|N|
C4330720|An architectural pattern characterized by the presence of neoplastic cells forming multiple nodules with prominent vacuolation.|NCI|N|
C4330721|A low-grade tumor affecting the cerebral hemispheres. It is composed of cells with glial and/or neuronal differentiation forming multiple nodules with prominent vacuolation.|NCI|N|
C4330724|A rare syndrome that refers to a constellation of anomalies resulting from multiple vascular disruption.|NCI|N|
C4330726|A myelodysplastic syndrome with ring sideroblasts and dysplastic changes involving only one myeloid cell lineage in the bone marrow.|NCI|N|
C4330727|A term that refers to myelodysplastic syndromes, myelodysplastic/myeloproliferative neoplasms, and acute myeloid leukemias that are associated with germline mutations and are familial.|NCI|N|
C4330731|A change in the nucleotide sequence of the NFE2L2 gene.|NCI|N|
C4330760|A molecular abnormality indicating rearrangement of the NTRK2 gene.|NCI|N|
C4330762|A molecular abnormality indicating rearrangement of the NTRK3 gene.|NCI|N|
C4330769|A clinical finding about one or more characteristics of nasopharyngeal cancer, following the rules of the TNM AJCC v8 classification system as they pertain to distant metastases.|NCI|N|
C4330770|A clinical finding about one or more characteristics of nasopharyngeal cancer, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4330771|A pathologic finding about one or more characteristics of nasopharyngeal cancer, following the rules of the TNM AJCC v8 classification system as they pertain to distant metastases.|NCI|N|
C4330772|A pathologic finding about one or more characteristics of nasopharyngeal cancer, following the rules of the TNM AJCC v8 classification system as they pertain to staging of the primary tumor.|NCI|N|
C4330773|A pathologic finding about one or more characteristics of nasopharyngeal cancer, following the rules of the TNM AJCC v8 classification system as they pertain to staging of regional lymph nodes.|NCI|N|
C4330774|A pathologic finding about one or more characteristics of nasopharyngeal cancer, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4330775|A finding about one or more characteristics of nasopharyngeal cancer, following the rules of the TNM AJCC v8 classification system. Epithelial tumors of the nasopharynx are staged using this staging system. Mucosal melanoma, lymphoma, and sarcoma of soft tissue, bone, and cartilage are not included in this classification. (from AJCC 8th Ed.)|NCI|N|
C4330776|Nasopharyngeal cancer without evidence of distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4330777|Nasopharyngeal cancer with distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4330778|Nasopharyngeal cancer with distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4330779|Nasopharyngeal cancer with no metastasis to regional lymph nodes. (from AJCC 8th Ed.)|NCI|N|
C4330780|Nasopharyngeal cancer with unilateral metastasis in cervical lymph node(s), and/or unilateral or bilateral metastasis in retropharyngeal lymph node(s), 6 cm or smaller in greatest dimension, above the caudal border of cricoid cartilage. (from AJCC 8th Ed.)|NCI|N|
C4330781|Nasopharyngeal cancer with bilateral metastasis in cervical lymph node(s), 6 cm or smaller in greatest dimension, above the caudal border of cricoid cartilage. (from AJCC 8th Ed.)|NCI|N|
C4330782|Nasopharyngeal cancer with unilateral or bilateral metastasis in cervical lymph node(s), larger than 6 cm in greatest dimension, and/or extension below the caudal border of cricoid cartilage. (from AJCC 8th Ed.)|NCI|N|
C4330783|Nasopharyngeal cancer in which the regional lymph nodes cannot be assessed. (from AJCC 8th Ed.)|NCI|N|
C4330784|No tumor identified, but EBV-positive cervical node(s) involvement is present. (from AJCC 8th Ed.)|NCI|N|
C4330785|Nasopharyngeal cancer with tumor confined to the nasopharynx, or tumor extending to oropharynx and/or nasal cavity without parapharyngeal involvement. (from AJCC 8th Ed.)|NCI|N|
C4330786|Nasopharyngeal cancer with extension to parapharyngeal space, and/or adjacent soft tissue involvement (medial pterygoid, lateral pterygoid, prevertebral muscles). (from AJCC 8th Ed.)|NCI|N|
C4330787|Nasopharyngeal cancer with tumor infiltrating bony structures at skull base, cervical vertebrae, pterygoid structures, and/or paranasal sinuses. (from AJCC 8th Ed.)|NCI|N|
C4330788|Nasopharyngeal cancer with intracranial extension, involvement of cranial nerves, hypopharynx, orbit, parotid gland, and/or extensive soft tissue infiltration beyond the lateral surface of the lateral pterygoid muscle. (from AJCC 8th Ed.)|NCI|N|
C4330789|Nasopharyngeal cancer in which the primary tumor cannot be assessed. (from AJCC 8th Ed.)|NCI|N|
C4330790|Nasopharyngeal cancer with a finding of carcinoma in situ. (from AJCC 8th Ed.)|NCI|N|
C4330793|A subjective score of 0 on a scale that ranges from 0: None to 10: The worst you can think of.|NCI|N|
C4330794|A subjective score of 10 on a scale that ranges from 0: None to 10: The worst you can think of.|NCI|N|
C4330795|A subjective score of 1 on a scale that ranges from 0: None to 10: The worst you can think of.|NCI|N|
C4330796|A subjective score of 2 on a scale that ranges from 0: None to 10: The worst you can think of.|NCI|N|
C4330797|A subjective score of 3 on a scale that ranges from 0: None to 10: The worst you can think of.|NCI|N|
C4330798|A subjective score of 4 on a scale that ranges from 0: None to 10: The worst you can think of.|NCI|N|
C4330799|A subjective score of 5 on a scale that ranges from 0: None to 10: The worst you can think of.|NCI|N|
C4330800|A subjective score of 6 on a scale that ranges from 0: None to 10: The worst you can think of.|NCI|N|
C4330801|A subjective score of 7 on a scale that ranges from 0: None to 10: The worst you can think of.|NCI|N|
C4330802|A subjective score of 8 on a scale that ranges from 0: None to 10: The worst you can think of.|NCI|N|
C4330803|A subjective score of 9 on a scale that ranges from 0: None to 10: The worst you can think of.|NCI|N|
C4330804|The following anatomical structures define the neck lymph node boundary for level III: Superior: horizontal plane defined by the inferior body of the hyoid; inferior: horizontal plane defined by the inferior border of the cricoid cartilage; anterior (medial): lateral border of the sternohyoid muscle; posterior (lateral): lateral border of the sternocleidomastoid or sensory branches of the cervical plexus. (AJCC 8th ed.)|NCI|N|
C4330805|The following anatomical structures define the neck lymph node boundary for level IV: Superior: horizontal plane defined by the inferior border of the cricoid cartilage; inferior: clavicle; anterior (medial): lateral border of the sternohyoid muscle; posterior (lateral): lateral border of the sternocleidomastoid or sensory branches of the cervical plexus. (AJCC 8th ed.)|NCI|N|
C4330806|The following anatomical structures define the neck lymph node boundary for level VII: Superior: suprasternal notch; inferior: innominate artery; anterior (medial): sternum; posterior (lateral): trachea, esophagus, and prevertebral fascia. (AJCC 8th ed.)|NCI|N|
C4330807|The following anatomical structures define the neck lymph node boundary for level VI: Superior: hyoid bone; inferior: suprasternal notch; anterior (medial): common carotid artery; posterior (lateral): common carotid artery. (AJCC 8th ed.)|NCI|N|
C4330808|The anatomical structures that define the neck lymph node boundaries.|NCI|N|
C4330809|The following anatomical structures define the neck lymph node boundary for sublevel IA: Superior: symphysis of the mandible; inferior: body of the hyoid; anterior (medial): anterior belly of the contralateral digastric muscle; posterior (lateral): anterior belly of the ipsilateral digastric muscle. (AJCC 8th ed.)|NCI|N|
C4330810|The following anatomical structures define the neck lymph node boundary for sublevel IB: Superior: body of the mandible; inferior: posterior belly of the digastric muscle; anterior (medial): anterior belly of the digastric muscle; posterior (lateral): stylohyoid muscle. (AJCC 8th ed.)|NCI|N|
C4330811|The following anatomical structures define the neck lymph node boundary for sublevel IIA: Superior: skull base; inferior: horizontal plane defined by the inferior border of the hyoid bone; anterior (medial): stylohyoid muscle; posterior (lateral): vertical plane defined by the spinal accessory nerve. (AJCC 8th ed.)|NCI|N|
C4330812|The following anatomical structures define the neck lymph node boundary for sublevel IIB: Superior: skull base; inferior: horizontal plane defined by the inferior body of the hyoid bone; anterior (medial): vertical plane defined by the spinal accessory nerve; posterior (lateral): lateral border of the sternocleidomastoid muscle. (AJCC 8th ed.)|NCI|N|
C4330813|The following anatomical structures define the neck lymph node boundary for sublevel VA: Superior: apex of the convergence of the sternocleidomastoid and trapezius muscles; inferior: horizontal plane defined by the lower border of the cricoid cartilage; anterior (medial): posterior border of the sternocleidomastoid muscle or sensory branches of the cervical plexus; posterior (lateral): anterior border of the trapezius muscle. (AJCC 8th ed.)|NCI|N|
C4330814|The following anatomical structures define the neck lymph node boundary for sublevel VB: Superior: horizontal plane defined by the lower border of the cricoid cartilage; inferior: clavicle; anterior (medial): posterior border of the sternocleidomastoid muscle; posterior (lateral): anterior border of the trapezius muscle. (AJCC 8th ed.)|NCI|N|
C4330816|The implantation of tumor cells to surrounding tissue along the course of a contaminated instrument such as a biopsy needle or laparoscope.|NCI|N|
C4330817|A response indicating that an individual needs verbal or physical help or a carrying aid to use stairs.|NCI|N|
C4330818|A response indicating that an individual needs help with tasks related to eating, such as cutting food, spreading butter, etc.|NCI|N|
C4330819|A response indicating that an individual needs help with personal grooming care.|NCI|N|
C4330820|A response indicating that an individual needs some help but can do something alone.|NCI|N|
C4330821|A subjective response indicating that something is neither good nor bad.|NCI|N|
C4330824|A localized, pathological, or traumatic structural change, damage, deformity, or discontinuity of the bone that has not been previously seen or characterized.|NCI|N|
C4330827|A response indicating that an individual did not have hearing problems.|NCI|N|
C4330829|The identification of a tumor or lesion located at or near the lymph node that is present at baseline, and is not the target of the therapeutic intervention.|NCI|N|
C4330831|The identification of a tumor or lesion that has a well-defined area of unequivocally increased signal intensity on MRI or CT scan images compared with the normal-appearing surrounding tissues, and is not the target of the therapeutic intervention.|NCI|N|
C4330832|The identification of a tumor or lesion without a well-defined area of unequivocally increased signal intensity on MRI or CT scan images compared with the normal-appearing surrounding tissues, and is not the target of the therapeutic intervention.|NCI|N|
C4330833|An area of the body subjected to inconsistent sun exposure.|NCI|N|
C4330843|Nutritional rickets due to dietary deficiency of calcium.|NCI|N|
C4330844|Hypophosphatemic rickets due to insufficient dietary phosphate intake or absorption.|NCI|N|
C4330845|Rickets due to dietary deficiency of calcium, phosphate, or vitamin D.|NCI|N|
C4330847|A response indicating that an individual has urinary accidents, but no more than once per 24 hours.|NCI|N|
C4330848|A response indicating occasional agreement.|NCI|N|
C4330849|A finding indicating the presence of an ependymal tumor in the occipital and parietal lobes and a brain ventricle.|NCI|N|
C4330855|A response indicating that an individual is only able to do an activity with help.|NCI|N|
C4330858|A morphologic finding of dysplastic epithelial cells in the oral cavity.|NCI|N|
C4330863|A clinical finding about one or more characteristics of oropharyngeal (p16-negative) cancer, following the rules of the TNM AJCC v8 classification system as they pertain to distant metastases.|NCI|N|
C4330864|A clinical finding about one or more characteristics of oropharyngeal (p16-negative) cancer, following the rules of the TNM AJCC v8 classification system as they pertain to staging of regional lymph nodes.|NCI|N|
C4330865|A clinical finding about one or more characteristics of p16-negative oropharyngeal cancer, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4330866|A pathologic finding about one or more characteristics of oropharyngeal (p16-negative) cancer, following the rules of the TNM AJCC v8 classification system as they pertain to distant metastases.|NCI|N|
C4330867|A pathologic finding about one or more characteristics of p16-negative oropharyngeal cancer, following the rules of the TNM AJCC v8 classification system as they pertain to staging of the primary tumor.|NCI|N|
C4330868|A pathologic finding about one or more characteristics of oropharyngeal (p16-negative) cancer, following the rules of the TNM AJCC v8 classification system as they pertain to staging of regional lymph nodes.|NCI|N|
C4330869|A pathologic finding about one or more characteristics of p16-negative oropharyngeal cancer, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4330870|A finding about one or more characteristics of p16-negative oropharyngeal cancer, following the rules of the TNM AJCC v8 classification system. This staging system applies to p16-negative squamous cell carcinomas of the oropharynx, oropharyngeal cancers without p16 immunostaining performed, minor salivary gland carcinomas of the oropharynx, and neuroendocrine carcinomas of the oropharynx. Oropharyngeal cancers which are p16-positive are staged according to the classification for p16-positive oropharyngeal cancers. (from AJCC 8th Ed.)|NCI|N|
C4330871|Oropharyngeal (p16-negative) cancer without evidence of distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4330872|Oropharyngeal (p16-negative) cancer with distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4330873|Oropharyngeal (p16-negative) cancer with no metastasis to regional lymph nodes. (from AJCC 8th Ed.)|NCI|N|
C4330874|Oropharyngeal (p16-negative) cancer with metastasis in a single ipsilateral lymph node, 3 cm or smaller in greatest dimension and ENE (-). (from AJCC 8th Ed.)|NCI|N|
C4330875|Oropharyngeal (p16-negative) cancer with metastasis in a single ipsilateral lymph node larger than 3 cm but not larger than 6 cm in greatest dimension and ENE(-); or metastases in multiple ipsilateral lymph nodes, none larger than 6 cm in greatest dimension and ENE(-); or metastases in bilateral or contralateral lymph nodes, none larger than 6 cm in greatest dimension and ENE(-). (from AJCC 8th Ed.)|NCI|N|
C4330876|Oropharyngeal (p16-negative) cancer with metastasis in a single ipsilateral lymph node larger than 3 cm but not larger than 6 cm in greatest dimension and ENE(-). (from AJCC 8th Ed.)|NCI|N|
C4330877|Oropharyngeal (p16-negative) cancer with metastases in multiple ipsilateral lymph nodes, none larger than 6 cm in greatest dimension and ENE(-). (from AJCC 8th Ed.)|NCI|N|
C4330878|Oropharyngeal (p16-negative) cancer with metastases in bilateral or contralateral lymph nodes, none larger than 6 cm in greatest dimension and ENE(-). (from AJCC 8th Ed.)|NCI|N|
C4330879|Oropharyngeal (p16-negative) cancer with metastasis in a lymph node larger than 6 cm in greatest dimension and ENE(-); or metastasis in any node(s) and clinically overt ENE(+). (from AJCC 8th Ed.)|NCI|N|
C4330880|Oropharyngeal (p16-negative) cancer with metastasis in a lymph node larger than 6 cm in greatest dimension and ENE(-). (from AJCC 8th Ed.)|NCI|N|
C4330881|Oropharyngeal (p16-negative) cancer with metastasis in any node(s) and clinically overt ENE(+). (from AJCC 8th Ed.)|NCI|N|
C4330882|Oropharyngeal (p16-negative) cancer in which the regional lymph nodes cannot be assessed. (from AJCC 8th Ed.)|NCI|N|
C4330883|Oropharyngeal (p16-negative) cancer with distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4330884|Oropharyngeal (p16-negative) cancer with no metastasis to regional lymph nodes. (from AJCC 8th Ed.)|NCI|N|
C4330885|Oropharyngeal (p16-negative) cancer with metastasis in a single ipsilateral lymph node, 3 cm or smaller in greatest dimension and ENE (-). (from AJCC 8th Ed.)|NCI|N|
C4330886|Oropharyngeal (p16-negative) cancer with metastasis in a single ipsilateral lymph node, 3 cm or smaller in greatest dimension and ENE(+); or larger than 3 cm but not larger than 6 cm in greatest dimension and ENE(-); or metastases in multiple ipsilateral lymph nodes, none larger than 6 cm in greatest dimension and ENE(-); or metastases in bilateral or contralateral lymph nodes, none larger than 6 cm in greatest dimension and ENE(-). (from AJCC 8th Ed.)|NCI|N|
C4330887|Oropharyngeal (p16-negative) cancer with metastasis in a single ipsilateral lymph node, 3 cm or smaller in greatest dimension and ENE(+); or a single ipsilateral lymph node larger than 3 cm but not larger than 6 cm in greatest dimension and ENE(-). (from AJCC 8th Ed.)|NCI|N|
C4330888|Oropharyngeal (p16-negative) cancer with metastases in multiple ipsilateral lymph nodes, none larger than 6 cm in greatest dimension and ENE(-). (from AJCC 8th Ed.)|NCI|N|
C4330889|Oropharyngeal (p16-negative) cancer with metastases in bilateral or contralateral lymph nodes, none larger than 6 cm in greatest dimension and ENE(-). (from AJCC 8th Ed.)|NCI|N|
C4330890|Oropharyngeal (p16-negative) cancer with metastasis in a lymph node larger than 6 cm in greatest dimension and ENE(-); or metastasis in a single ipsilateral lymph node larger than 3 cm in greatest dimension and ENE(+); or metastases in multiple ipsilateral, contralateral, or bilateral lymph nodes any with ENE(+). (from AJCC 8th Ed.)|NCI|N|
C4330891|Oropharyngeal (p16-negative) cancer with metastasis in a lymph node larger than 6 cm in greatest dimension and ENE(-). (from AJCC 8th Ed.)|NCI|N|
C4330892|Oropharyngeal (p16-negative) cancer in which the regional lymph nodes cannot be assessed. (from AJCC 8th Ed.)|NCI|N|
C4330893|Oropharyngeal (p16-negative) cancer with tumor 2 cm or smaller in greatest dimension. (from AJCC 8th Ed.)|NCI|N|
C4330894|Oropharyngeal (p16-negative) cancer with tumor larger than 2 cm but not larger than 4 cm in greatest dimension. (from AJCC 8th Ed.)|NCI|N|
C4330895|Oropharyngeal (p16-negative) cancer with tumor larger than 4 cm in greatest dimension or extension to lingual surface of epiglottis. (from AJCC 8th Ed.)|NCI|N|
C4330896|Oropharyngeal (p16-negative) cancer with moderately advanced or very advanced local disease. (from AJCC 8th Ed.)|NCI|N|
C4330897|Oropharyngeal (p16-negative) cancer with moderately advanced local disease. Tumor invades the larynx, extrinsic muscle of tongue, medial pterygoid, hard palate, or mandible. Mucosal extension to lingual surface of epiglottis from primary tumors of the base of the tongue and vallecula does not constitute invasion of the larynx. (from AJCC 8th Ed.)|NCI|N|
C4330898|Oropharyngeal (p16-negative) cancer with very advanced local disease. Tumor invades lateral pterygoid muscle, pterygoid plates, lateral nasopharynx, or skull base or encases carotid artery. (from AJCC 8th Ed.)|NCI|N|
C4330899|Oropharyngeal (p16-negative) cancer in which the primary tumor cannot be assessed. (from AJCC 8th Ed.)|NCI|N|
C4330900|Oropharyngeal (p16-negative) cancer with a finding of carcinoma in situ. (from AJCC 8th Ed.)|NCI|N|
C4330901|A term that refers to the staging of p16-negative oropharyngeal carcinoma according to the American Joint Committee on Cancer, 8th edition.|NCI|N|
C4330902|A finding about one or more characteristics of p16-negative oropharyngeal and hypopharyngeal cancer, following the rules of the TNM AJCC v8 classification system. This staging system applies to p16-negative squamous cell carcinomas of the oropharynx, oropharyngeal cancers without p16 immunostaining performed, and all cancers of the hypopharynx. Minor salivary gland cancers and neuroendocrine carcinomas of the oropharynx and hypopharynx are included in this classification. Oropharyngeal cancers which are p16-positive are staged according to the classification for p16-positive oropharyngeal cancers. (from AJCC 8th Ed.)|NCI|N|
C4330904|A form of osteopetrosis in which osteoclasts are abundant but have severely impaired resorptive function.|NCI|N|
C4330916|A molecular genetic abnormality indicating the presence of multiple copies of the PDGFRB gene.|NCI|N|
C4330918|A molecular genetic abnormality indicating the presence of multiple copies of the PIK3C2B gene.|NCI|N|
C4330919|A change in the nucleotide sequence of the PIK3R1 gene.|NCI|N|
C4330920|A missense mutation in the POLE gene located in the region that encodes the exonuclease domain of the DNA polymerase epsilon catalytic subunit A protein (POLE protein). These mutations lead to defective DNA proof-reading by POLE protein during DNA replication and have been reported in patients with colorectal carcinoma and certain subtypes of endometrial carcinoma.|NCI|N|
C4330921|A change in the nucleotide sequence of the POLE gene.|NCI|N|
C4330922|A change in the nucleotide sequence of the PRKAR1A gene.|NCI|N|
C4330923|A change in the nucleotide sequence of the PRKDC gene.|NCI|N|
C4330931|A response indicating that a parent did not come to a clinic and that a mailed form was not returned.|NCI|N|
C4330932|A response indicating that a form was given to a parent, but that it was not returned.|NCI|N|
C4330933|A response indicating that a parent wishes to withdraw from further participation.|NCI|N|
C4330934|A response indicating that a parent or guardian did not speak English.|NCI|N|
C4330935|A finding indicating the presence of an ependymal tumor in the parietal lobe of the brain.|NCI|N|
C4330936|A finding indicating the presence of an ependymal tumor in the parietal and occipital lobes of the brain.|NCI|N|
C4330939|A response indicating that an individual has not had fatigue or lack of energy in the past 30 days.|NCI|N|
C4330940|A response indicating that an individual has not had a partner in the past 30 days.|NCI|N|
C4330969|Stage I includes: (T0, N0, M0); (T0, N1, M0); (T1, N0, M0); (T1, N1, M0); (T2, N0, M0); (T2, N1, M0). T0: No primary identified. T1: Tumor 2 cm or smaller in greatest dimension. T2: Tumor larger than 2 cm but not larger than 4 cm in greatest dimension. N0: No regional lymph node metastasis. N1: Tumor with metastasis in four or fewer lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4330970|Stage II includes: (T0, N2, M0); (T1, N2, M0); (T2, N2, M0); (T3, N0, M0); (T3, N1, M0); (T4, N0, M0); (T4, N1, M0). T0: No primary identified. T1: Tumor 2 cm or smaller in greatest dimension. T2: Tumor larger than 2 cm but not larger than 4 cm in greatest dimension. T3: Tumor larger than 4 cm in greatest dimension or extension to lingual surface of epiglottis. T4: Moderately advanced local disease. Tumor invades the larynx, extrinsic muscle of tongue, medial pterygoid, hard palate, or mandible or beyond. Mucosal extension to lingual surface of epiglottis from primary tumors of the base of the tongue and vallecula does not constitute invasion of the larynx. N0: No regional lymph node metastasis. N1: Tumor with metastasis in four or fewer lymph nodes. N2: Tumor with metastasis in more than four lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4330971|Stage III includes: (T3, N2, M0); (T4, N2, M0). T3: Tumor larger than 4 cm in greatest dimension or extension to lingual surface of epiglottis. T4: Moderately advanced local disease. Tumor invades the larynx, extrinsic muscle of tongue, medial pterygoid, hard palate, or mandible or beyond. Mucosal extension to lingual surface of epiglottis from primary tumors of the base of the tongue and vallecula does not constitute invasion of the larynx. N2: Tumor with metastasis in more than four lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4330972|A response indicating that a patient was too ill to complete a form at this assessment.|NCI|N|
C4330988|A subjective score of 0% on a scale that ranges from 0%: None to 100%: All of my food.|NCI|N|
C4330989|A subjective score of 10% on a scale that ranges from 0%: None to 100%: All of my food.|NCI|N|
C4330990|A subjective score of 20% on a scale that ranges from 0%: None to 100%: All of my food.|NCI|N|
C4330991|A subjective score of 30% on a scale that ranges from 0%: None to 100%: All of my food.|NCI|N|
C4330992|A subjective score of 40% on a scale that ranges from 0%: None to 100%: All of my food.|NCI|N|
C4330993|A subjective score of 50% on a scale that ranges from 0%: None to 100%: All of my food.|NCI|N|
C4330994|A subjective score of 60% on a scale that ranges from 0%: None to 100%: All of my food.|NCI|N|
C4330995|A subjective score of 70% on a scale that ranges from 0%: None to 100%: All of my food.|NCI|N|
C4330996|A subjective score of 80% on a scale that ranges from 0%: None to 100%: All of my food.|NCI|N|
C4330997|A subjective score of 90% on a scale that ranges from 0%: None to 100%: All of my food.|NCI|N|
C4330998|Transient hyperinsulinism that occurs in response to neonatal stress resulting in prolonged neonatal hypoglycemia, which is distinct from transitional hypoglycemia of typical infants.|NCI|N|
C4331001|A morphologic finding indicating the continuing presence of neuroblastic cells in a set of tissue samples collected over time.|NCI|N|
C4331003|A finding about one or more characteristics of pharyngeal cancer, following the rules of the TNM AJCC v8 classification system. (from AJCC 8th Ed.)|NCI|N|
C4331004|A term that refers to the staging of pharyngeal carcinoma according to the American Joint Committee on Cancer, 8th edition.|NCI|N|
C4331013|A coagulation disorder characterized by the partial or complete absence of plasma-type kallikrein activity in the blood.|NCI|N|
C4331020|The transfer of multiple ADP-ribose molecules to amino acids within target proteins.|NCI|N|
C4331026|A finding indicating the presence of an ependymal tumor in the posterior cranial fossa.|NCI|N|
C4331028|The main language that is spoken by the subject most frequently or dominantly.|NCI|N|
C4331029|A subtype of micronodular adrenal hyperplasia, characterized by multiple pigmented nodules, which may occur in isolation or as part of the Carney complex.|NCI|N|
C4331037|A marked decrease in contrast enhancement that is not due to actual tumor shrinkage, but that may be due to anti-angiogenic therapy or an increase in steroid dosage.|NCI|N|
C4331198|A change in the nucleotide sequence of the RAD50 gene.|NCI|N|
C4331199|A change in the nucleotide sequence of the RAD51 gene.|NCI|N|
C4331200|A change in the nucleotide sequence of the RAD51B gene.|NCI|N|
C4331201|A change in the nucleotide sequence of the RAD51C gene.|NCI|N|
C4331202|A change in the nucleotide sequence of the RAD51D gene.|NCI|N|
C4331203|A change in the nucleotide sequence of the RAD54L gene.|NCI|N|
C4331205|A change in the nucleotide sequence in a RAS family gene (HRAS, KRAS or NRAS).|NCI|N|
C4331213|A change in the nucleotide sequence of the ROS1 gene.|NCI|N|
C4331214|A molecular abnormality indicating rearrangement of the ROS1 gene.|NCI|N|
C4331215|A cytogenetic abnormality that refers to any translocation involving the ROS1 gene.|NCI|N|
C4331216|A change in the nucleotide sequence of the RPA1 gene.|NCI|N|
C4331217|A benign or malignant neoplasm that affects the pituitary gland of a rat.|NCI|N|
C4331220|A subjective response indicating that something is rather poor.|NCI|N|
C4331224|The reemergence of T-acute lymphoblastic leukemia in childhood after a period of remission.|NCI|N|
C4331225|The reemergence of chronic lymphocytic leukemia/small lymphocytic lymphoma after a period of remission.|NCI|N|
C4331226|The reemergence of endometrial serous adenocarcinoma after a period of remission.|NCI|N|
C4331227|The reemergence of an ependymal tumor after a period of remission.|NCI|N|
C4331228|The reemergence of a malignant germ cell tumor after a period of remission.|NCI|N|
C4331229|The reemergence of a glioma after a period of remission.|NCI|N|
C4331230|The reemergence of gliosarcoma after a period of remission.|NCI|N|
C4331231|The reemergence of a primary malignant neoplasm after a period of remission.|NCI|N|
C4331232|The reemergence of a malignant neoplasm other than the original one, after a period of remission.|NCI|N|
C4331244|Squamous cell carcinoma of the head and neck which is amendable to surgical removal.|NCI|N|
C4331256|A response indicating that an individual was not bothered by or ringing or other noises.|NCI|N|
C4331257|A response indicating that ringing or other noises did not interfere with an individual''s activities.|NCI|N|
C4331258|A response indicating that ringing or other noises did not make it hard for an individual to fall asleep.|NCI|N|
C4331259|A response indicating that ringing or other noises did not make it hard for an individual to pay attention.|NCI|N|
C4331260|A response indicating that ringing or other noises did not wake an individual from sleep.|NCI|N|
C4331262|A tumor of the central nervous system that has components of both neurocytic and glial areas, whereby usually the glial component of the tumor predominates. Rossette-forming glioneuronal tumors (RGNT) have biphasic cytoarchitecture with two elements; neurocytic rosettes resembling Homer-Wright rosettes, and astrocytic component resembling a pilocytic astrocytoma. RGNTs are low-grade tumors that lack histopathological signs of malignancy.|HPO|N|
C4331268|Diabetes mellitus caused by activating mutation(s) in the ABCC8 gene, encoding the sulfonylurea receptor 1 (SUR1) subunit of the pancreatic beta cell adenosine triphosphate-sensitive potassium channel. Note: Inactivating mutation(s) in the ABCC8 gene result in hyperinsulinism.|NCI|N|
C4331269|A chordoma that arises from the sacral area.|NCI|N|
C4331270|A classic form of congenital adrenal hyperplasia characterized by complete absence of 21-hydroxylase activity resulting in deficiency of glucocorticoids and mineralocorticoids accompanied by androgen excess causing virilization in female infants. Mineralocorticoid deficiency results in renal salt-wasting, and if untreated, hyponatremia, hyperkalemia, and shock.|NCI|N|
C4331273|Additional language(s) that is spoken by the subject but which is not considered the primary language.|NCI|N|
C4331291|An autosomal dominant condition usually caused by mutation(s) in the SHH gene, encoding sonic hedgehog, a secreted protein involved in the organization and morphology of the developing embryo. This condition is characterized by multiple, mainly midline, developmental variations, including the presence of a tooth in the center of the maxillary dental arch in both primary and permanent dentition, and any combination of the following: holoprosencephaly, congenital nasal malformation (choanal atresia, midnasal stenosis, or congenital pyriform aperture stenosis), cleft lip and/or palate, hypopituitarism (including hypothyroidism and hypogonadism, resulting in variations in genital development including small penis or incomplete masculinization in male infants), congenital heart anomalies, and developmental delay.|NCI|N|
C4331296|An adenocarcinoma composed of small malignant cells.|NCI|N|
C4331297|An extramedullary myeloid tumor that arises from the small intestine. It often presents with abdominal pain and obstruction.|NCI|N|
C4331300|An evaluation of the soft tissue response of the disease to the therapy.|NCI|N|
C4331311|Stage 0 includes: Tis, N0, M0. Tis: Carcinoma in situ. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4331313|Stage 0 includes: Tis, N0, M0. Tis: Carcinoma in situ. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4331314|Stage I includes: T1, N0, M0. T1: Tumor limited to one subsite of hypopharynx and/or 2 cm or smaller in greatest dimension. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4331315|Stage I includes: T1, N0, M0. T1: Tumor size 2 cm or less in greatest dimension and 5 mm or less depth of invasion (DOI). N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th Ed.)|NCI|N|
C4331316|Stage I includes: T1, N0, M0. T1: Tumor measuring 2 cm or less in greatest dimension without extraparenchymal extension. Extraparenchymal extension is clinical or macroscopic evidence of invasion of soft tissues. Microscopic evidence alone does not constitute extraparenchymal extension for classification purposes. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4331317|Stage I includes: T1, N0, M0. T1: Tumor confined to the nasopharynx, or tumor extending to oropharynx and/or nasal cavity without parapharyngeal involvement. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4331318|Stage I includes: T1, N0, M0. T1: Tumor 2 cm or smaller in greatest dimension. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4331319|Stage IA includes: T1, N0, M0, B0-1. T1: Limited patches, papules, and/or plaques covering less than 10% of the skin surface. May further stratify into T1a (patch only) vs. T1b (plaque +/- patch). N0: No clinically abnormal peripheral lymph nodes; biopsy not required. M0: No visceral organ involvement. B0: Absence of significant blood involvement: 5% or less of peripheral blood lymphocytes are atypical (Sezary cells). B1: Low blood tumor burden: more than 5% of peripheral blood lymphocytes are atypical (Sezary cells) but does not meet the criteria of B2. (AJCC 7th ed.)|NCI|N|
C4331320|Stage IB includes: T2, N0, M0, B0-1. T2: Patches, papules, or plaques covering 10% or more of the skin surface. May further stratify into T2a (patch only) vs. T2b (plaque +/- patch). N0: No clinically abnormal peripheral lymph nodes; biopsy not required. M0: No visceral organ involvement. B0: Absence of significant blood involvement: 5% or less of peripheral blood lymphocytes are atypical (Sezary cells). B1: Low blood tumor burden: more than 5% of peripheral blood lymphocytes are atypical (Sezary cells) but does not meet the criteria of B2. (AJCC 7th ed.)|NCI|N|
C4331321|Stage II includes: T2, N0, M0. T2: Tumor invading more than one subsite of hypopharynx or an adjacent site, or measuring more than 2 cm but not more than 4 cm in greatest dimension without fixation of hemilarynx. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4331322|Stage II includes: T2, N0, M0. T2: Tumor size 2 cm or less in greatest dimension, DOI greater than 5 mm and equal or less than 10 mm or tumor greater than 2 cm but 4 cm or less in greatest dimension and 10 mm or less DOI. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th Ed.)|NCI|N|
C4331323|Stage II includes: T2, N0, M0. T2: Tumor measuring more than 2 cm, but not more than 4 cm in greatest dimension without extraparenchymal extension. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4331324|Stage II includes: (T1, N1, M0); (T0, N1, M0); (T2, N0, M0); (T2, N1, M0). T1: Tumor confined to the nasopharynx, or tumor extending to oropharynx and/or nasal cavity without parapharyngeal involvement. T0: No tumor identified, but EBV-positive cervical node(s) involvement is present. T2: Tumor with extension to parapharyngeal space, and/or adjacent soft tissue involvement (medial pterygoid, lateral pterygoid, prevertebral muscles). N0: No regional lymph node metastasis. N1: Tumor with unilateral metastasis in cervical lymph node(s), and/or unilateral or bilateral metastasis in retropharyngeal lymph node(s), 6 cm or smaller in greatest dimension, above the caudal border of cricoid cartilage. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4331325|Stage II includes: T2, N0, M0. T2: Tumor larger than 2 cm but not larger than 4 cm in greatest dimension. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4331326|Stage III includes: (T3, N0, M0); (T1, N1, M0); (T2, N1, M0); (T3, N1, M0). T3: Tumor larger than 4 cm in greatest dimension or with fixation of hemilarynx or extension to esophagus. T1: Tumor limited to one subsite of hypopharynx and/or 2 cm or smaller in greatest dimension. T2: Tumor invading more than one subsite of hypopharynx or an adjacent site, or measuring more than 2 cm but not more than 4 cm in greatest dimension without fixation of hemilarynx. N0: No regional lymph node metastasis. N1: Tumor with metastasis in a single ipsilateral lymph node, 3 cm or smaller in greatest dimension and ENE (-). M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4331327|Stage III includes: (T3, N0, M0); (T1, N1, M0); (T2, N1, M0); (T3, N1, M0). T3: Tumor size greater than 4 cm or any tumor greater than 10 mm DOI. T1: Tumor size 2 cm or less in greatest dimension and 5 mm or less DOI. T2: Tumor size 2 cm or less in greatest dimension, DOI greater than 5 mm and equal or less than 10 mm or tumor greater than 2 cm but 4 cm or less in greatest dimension and 10 mm or less DOI N1: Metastasis in a single ipsilateral lymph node, 3 cm or smaller in greatest dimension and ENE (extranodal extension)(-). M0: No distant metastasis. (AJCC 8th Ed.)|NCI|N|
C4331328|Stage III includes: (T3, N0, M0); (T0, N1, M0); (T1, N1, M0); (T2, N1, M0); (T3, N1, M0). T3: Tumor measuring more than 4 cm in greatest dimension, and/or tumor having extraparenchymal extension. T0: No evidence of primary tumor. T1: Tumor measuring 2 cm or less in greatest dimension without extraparenchymal extension. T2: Tumor measuring more than 2 cm, but not more than 4 cm in greatest dimension without extraparenchymal extension. N0: No regional lymph node metastasis. N1: Metastasis in a single ipsilateral lymph node, 3 cm or less in greatest dimension and ENE(-). M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4331329|Stage III includes: (T1, N2, M0); (T0, N2, M0); (T2, N2, M0); (T3, N0, M0); (T3, N1, M0); (T3, N2, M0). T1: Tumor confined to the nasopharynx, or tumor extending to oropharynx and/or nasal cavity without parapharyngeal involvement. T0: No tumor identified, but EBV-positive cervical node(s) involvement is present. T2: Tumor with extension to parapharyngeal space, and/or adjacent soft tissue involvement (medial pterygoid, lateral pterygoid, prevertebral muscles). T3: Tumor infiltrating bony structures at skull base, cervical vertebrae, pterygoid structures, and/or paranasal sinuses. N0: No regional lymph node metastasis. N1: Tumor with unilateral metastasis in cervical lymph node(s), and/or unilateral or bilateral metastasis in retropharyngeal lymph node(s), 6 cm or smaller in greatest dimension, above the caudal border of cricoid cartilage. N2: Tumor with bilateral metastasis in cervical lymph node(s), 6 cm or smaller in greatest dimension, above the caudal border of cricoid cartilage. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4331330|Stage III includes: (T3, N0, M0); (T1, N1, M0); (T2, N1, M0); (T3, N1, M0). T3: Tumor larger than 4 cm in greatest dimension or extension to lingual surface of epiglottis. T1: Tumor 2 cm or smaller in greatest dimension. T2: Tumor larger than 2 cm but not larger than 4 cm in greatest dimension. N0: No regional lymph node metastasis. N1: Tumor with metastasis in a single ipsilateral lymph node, 3 cm or smaller in greatest dimension and ENE (-). M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4331331|Stage III includes: T0, N1, M0. T0: No evidence of primary tumor. N1: Metastasis in a single ipsilateral lymph node, 3 cm or smaller in greatest dimension and ENE (extranodal extension)(-). M0: No distant metastasis. (AJCC 8th Ed.)|NCI|N|
C4331332|Stage IV includes: IVA: (T4a, N0, M0); (T4a, N1, M0); (T1, N2, M0); (T2, N2, M0); (T3, N2, M0); (T4a, N2, M0); IVB: (Any T, N3, M0); (T4b, Any N, M0); IVC: (Any T, Any N, M1). T4a: Moderately advanced local disease. Tumor invades thyroid/cricoid cartilage, hyoid bone, thyroid gland, or central compartment soft tissue. Central compartment soft tissue includes prelaryngeal strap muscles and subcutaneous fat. T1: Tumor limited to one subsite of hypopharynx and/or 2 cm or smaller in greatest dimension. T2: Tumor invading more than one subsite of hypopharynx or an adjacent site, or measuring more than 2 cm but not more than 4 cm in greatest dimension without fixation of hemilarynx. T3: Tumor larger than 4 cm in greatest dimension or with fixation of hemilarynx or extension to esophagus. T4b: Very advanced local disease. Tumor invades prevertebral fascia, encases carotid artery, or involves mediastinal structures. N0: No regional lymph node metastasis. N1: Tumor with metastasis in a single ipsilateral lymph node, 3 cm or smaller in greatest dimension and ENE (-). N2: Tumor with metastasis in a single ipsilateral lymph node, 3 cm or smaller in greatest dimension and ENE(+); or larger than 3 cm but not larger than 6 cm in greatest dimension and ENE(-); or metastases in multiple ipsilateral lymph nodes, none larger than 6 cm in greatest dimension and ENE(-); or metastases in bilateral or contralateral lymph nodes, none larger than 6 cm in greatest dimension and ENE(-). N3: Tumor with metastasis in a lymph node larger than 6 cm in greatest dimension and ENE(-); or metastasis in a single ipsilateral lymph node larger than 3 cm in greatest dimension and ENE(+); or metastases in multiple ipsilateral, contralateral, or bilateral lymph nodes any with ENE(+). M0: No distant metastasis. M1: Distant metastasis. (AJCC 8th ed.)|NCI|N|
C4331333|Stage IV includes: IVA (T4a, N0, M0); (T4a, N1, M0); (T1, N2, M0); (T2, N2, M0); (T3, N2, M0); (T4a, N2, M0); IVB (Any T, N3, M0); (T4b, Any N, M0); IVC (Any T, Any N, M1). T4a (lip): Tumor invades through cortical bone or involves the inferior alveolar nerve, floor of mouth, or skin of face (i.e., chin or nose). T4a (oral cavity): Tumor invades adjacent structures only (e.g., through cortical bone of the mandible or maxilla, or involves the maxillary sinus or skin of face). Note: Superficial erosion of bone/tooth socket (alone) by a gingival primary is not sufficient to classify a tumor as T4. T1: Tumor size 2 cm or less in greatest dimension and 5 mm or less DOI. T2: Tumor size 2 cm or less in greatest dimension, DOI greater than 5 mm and equal or less than 10 mm or tumor greater than 2 cm but 4 cm or less in greatest dimension and 10 mm or less DOI. T3: Tumor size greater than 4 cm or any tumor greater than 10 mm DOI. T4b: Tumor invades masticator space, pterygoid plates, or skull base and/or encases the internal carotid artery. N0: No regional lymph node metastasis. N1: Metastasis in a single ipsilateral lymph node, 3 cm or smaller in greatest dimension and ENE(-). N2: Metastasis in a single ipsilateral lymph node, 3 cm or smaller in greatest dimension and ENE(+); or larger than 3 cm but not larger than 6 cm in greatest dimension and ENE (-); or metastases in multiple ipsilateral lymph nodes, none larger than 6 cm in greatest dimension and ENE(-); or metastases in bilateral or contralateral lymph nodes, none larger than 6 cm in greatest dimension, ENE(-). N3: Metastasis in a lymph node larger than 6 cm in greatest dimension and ENE (-); or in a single ipsilateral lymph node larger than 3 cm in greatest dimension and ENE(+); or metastases in multiple ipsilateral, contralateral or bilateral lymph nodes any with ENE(+). M0: No distant metastasis. M1: Distant metastasis. (AJCC 8th Ed.)|NCI|N|
C4331334|Stage IV includes: IVA: (T4, N0, M0); (T4, N1, M0); (T4, N2, M0); (Any T, N3, M0); IVB (Any T, Any N, M1). T4: Tumor with intracranial extension, involvement of cranial nerves, hypopharynx, orbit, parotid gland, and/or extensive soft tissue infiltration beyond the lateral surface of the lateral pterygoid muscle. N0: No regional lymph node metastasis. N1: Tumor with unilateral metastasis in cervical lymph node(s), and/or unilateral or bilateral metastasis in retropharyngeal lymph node(s), 6 cm or smaller in greatest dimension, above the caudal border of cricoid cartilage. N2: Tumor with bilateral metastasis in cervical lymph node(s), 6 cm or smaller in greatest dimension, above the caudal border of cricoid cartilage. N3: Tumor with unilateral or bilateral metastasis in cervical lymph node(s), larger than 6 cm in greatest dimension, and/or extension below the caudal border of cricoid cartilage. M0: No distant metastasis. M1: Distant metastasis. (AJCC 8th ed.)|NCI|N|
C4331335|Stage IV includes: IVA: (T4a, N0, M0); (T4a, N1, M0); (T1, N2, M0); (T2, N2, M0); (T3, N2, M0); (T4a, N2, M0); IVB: (Any T, N3, M0); (T4b, Any N, M0); IVC: (Any T, Any N, M1). T4a: Moderately advanced local disease. Tumor invades the larynx, extrinsic muscle of tongue, medial pterygoid, hard palate, or mandible. Mucosal extension to lingual surface of epiglottis from primary tumors of the base of the tongue and vallecula does not constitute invasion of the larynx. T1: Tumor 2 cm or smaller in greatest dimension. T2: Tumor larger than 2 cm but not larger than 4 cm in greatest dimension. T3: Tumor larger than 4 cm in greatest dimension or extension to lingual surface of epiglottis. T4b: Very advanced local disease. Tumor invades lateral pterygoid muscle, pterygoid plates, lateral nasopharynx, or skull base or encases carotid artery. N0: No regional lymph node metastasis. N1: Tumor with metastasis in a single ipsilateral lymph node, 3 cm or smaller in greatest dimension and ENE (-). N2: Tumor with metastasis in a single ipsilateral lymph node, 3 cm or smaller in greatest dimension and ENE(+); or larger than 3 cm but not larger than 6 cm in greatest dimension and ENE(-); or metastases in multiple ipsilateral lymph nodes, none larger than 6 cm in greatest dimension and ENE(-); or metastases in bilateral or contralateral lymph nodes, none larger than 6 cm in greatest dimension and ENE(-). N3: Tumor with metastasis in a lymph node larger than 6 cm in greatest dimension and ENE(-); or metastasis in a single ipsilateral lymph node larger than 3 cm in greatest dimension and ENE(+); or metastases in multiple ipsilateral, contralateral, or bilateral lymph nodes any with ENE(+). M0: No distant metastasis. M1: Distant metastasis. (AJCC 8th ed.)|NCI|N|
C4331336|Stage IVA includes: (T4a, N0, M0); (T4a, N1, M0); (T1, N2, M0); (T2, N2, M0); (T3, N2, M0); (T4a, N2, M0). T4a: Moderately advanced local disease. Tumor invades thyroid/cricoid cartilage, hyoid bone, thyroid gland, or central compartment soft tissue. Central compartment soft tissue includes prelaryngeal strap muscles and subcutaneous fat. T1: Tumor limited to one subsite of hypopharynx and/or 2 cm or smaller in greatest dimension. T2: Tumor invading more than one subsite of hypopharynx or an adjacent site, or measuring more than 2 cm but not more than 4 cm in greatest dimension without fixation of hemilarynx. T3: Tumor larger than 4 cm in greatest dimension or with fixation of hemilarynx or extension to esophagus. N0: No regional lymph node metastasis. N1: Tumor with metastasis in a single ipsilateral lymph node, 3 cm or smaller in greatest dimension and ENE(-). N2: Tumor with metastasis in a single ipsilateral lymph node, 3 cm or smaller in greatest dimension and ENE(+); or larger than 3 cm but not larger than 6 cm in greatest dimension and ENE(-); or metastases in multiple ipsilateral lymph nodes, none larger than 6 cm in greatest dimension and ENE(-); or metastases in bilateral or contralateral lymph nodes, none larger than 6 cm in greatest dimension and ENE(-). M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4331337|Stage IVA includes: (T4a, N0, M0); (T4a, N1, M0); (T1, N2, M0); (T2, N2, M0); (T3, N2, M0); (T4a, N2, M0). T4a (lip): Tumor invades through cortical bone or involves the inferior alveolar nerve, floor of mouth, or skin of face (i.e., chin or nose). T4a (oral cavity): Tumor invades adjacent structures only (e.g., through cortical bone of the mandible or maxilla, or involves the maxillary sinus or skin of face). Note: Superficial erosion of bone/tooth socket (alone) by a gingival primary is not sufficient to classify a tumor as T4. T1: Tumor size 2 cm or less in greatest dimension and 5 mm or less DOI. T2: Tumor size 2 cm or less in greatest dimension, DOI greater than 5 mm and equal or less than 10 mm or tumor greater than 2 cm but 4 cm or less in greatest dimension and 10 mm or less DOI. T3: Tumor size greater than 4 cm or any tumor greater than 10 mm DOI. N0: No regional lymph node metastasis. N1: Metastasis in a single ipsilateral lymph node, 3 cm or smaller in greatest dimension and ENE(-). N2: Metastasis in a single ipsilateral lymph node, 3 cm or smaller in greatest dimension and ENE(+); or larger than 3 cm but not larger than 6 cm in greatest dimension and ENE (-); or metastases in multiple ipsilateral lymph nodes, none larger than 6 cm in greatest dimension and ENE(-); or metastases in bilateral or contralateral lymph nodes, none larger than 6 cm in greatest dimension, ENE(-). M0: No distant metastasis. (AJCC 8th Ed.)|NCI|N|
C4331338|Stage IVA includes: (T4a, N0, M0); (T4a, N1, M0); (T0, N2, M0); (T1, N2, M0); (T2, N2, M0); (T3, N2, M0); (T4a, N2, M0). T4a: Moderately advanced disease. Tumor invades skin, mandible, ear canal, and/or facial nerve. T0: No evidence of primary tumor. T1: Tumor measuring 2 cm or less in greatest dimension without extraparenchymal extension. T2: Tumor measuring more than 2 cm, but not more than 4 cm in greatest dimension without extraparenchymal extension. T3: Tumor measuring more than 4 cm in greatest dimension, and/or tumor having extraparenchymal extension. N0: No regional lymph node metastasis. N1: Metastasis in a single ipsilateral lymph node, 3 cm or less in greatest dimension. N2: Metastasis in a single ipsilateral lymph node, 3 cm or less in greatest dimension and ENE(+); or more than 3 cm but not more than 6 cm in greatest dimension and ENE(-); or metastases in multiple ipsilateral lymph nodes, none more than 6 cm in greatest dimension and ENE(-), or in bilateral or contralateral lymph nodes, none more than 6 cm in greatest dimension and ENE(-). M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4331339|Stage IVA includes: (T4, N0, M0); (T4, N1, M0); (T4, N2, M0); (Any T, N3, M0); T4: Tumor with intracranial extension, involvement of cranial nerves, hypopharynx, orbit, parotid gland, and/or extensive soft tissue infiltration beyond the lateral surface of the lateral pterygoid muscle. N0: No regional lymph node metastasis. N1: Tumor with unilateral metastasis in cervical lymph node(s), and/or unilateral or bilateral metastasis in retropharyngeal lymph node(s), 6 cm or smaller in greatest dimension, above the caudal border of cricoid cartilage. N2: Tumor with bilateral metastasis in cervical lymph node(s), 6 cm or smaller in greatest dimension, above the caudal border of cricoid cartilage. N3: Tumor with unilateral or bilateral metastasis in cervical lymph node(s), larger than 6 cm in greatest dimension, and/or extension below the caudal border of cricoid cartilage. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4331340|Stage IVA includes: T0, N2, M0. T0: No evidence of primary tumor. N2: Metastasis in a single ipsilateral or contralateral cervical lymph node 3 cm or smaller in greatest dimension and ENE(+); or metastasis in a single ipsilateral cervical lymph node larger than 3 cm but not larger than 6 cm in greatest dimension and ENE(-); or metastases in multiple ipsilateral cervical lymph nodes, none larger than 6 cm in greatest dimension and ENE(-); or metastases in bilateral or contralateral cervical lymph nodes, none larger than 6 cm in greatest dimension and ENE(-). M0: No distant metastasis. (AJCC 8th Ed.)|NCI|N|
C4331341|Stage IVB includes: (Any T, N3, M0); (T4b, Any N, M0). T4b: Very advanced local disease. Tumor invades prevertebral fascia, encases carotid artery, or involves mediastinal structures. N3: Tumor with metastasis in a lymph node larger than 6 cm in greatest dimension and ENE(-); or metastasis in a single ipsilateral lymph node larger than 3 cm in greatest dimension and ENE(+); or metastases in multiple ipsilateral, contralateral, or bilateral lymph nodes any with ENE(+). M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4331342|Stage IVB includes: (Any T, N3, M0); (T4b, Any N, M0). T4b: Tumor invades masticator space, pterygoid plates, or skull base and/or encases the internal carotid artery. N3: Metastasis in a lymph node larger than 6 cm in greatest dimension and ENE (-); or in a single ipsilateral lymph node larger than 3 cm in greatest dimension and ENE(+); or metastases in multiple ipsilateral, contralateral or bilateral lymph nodes any with ENE(+). M0: No distant metastasis. (AJCC 8th Ed.)|NCI|N|
C4331343|Stage IVB includes: (T4b, Any N, M0); (Any T, N3, M0). T4b: Very advanced disease. Tumor invades skull base and/or pterygoid plates and/or encases carotid artery. N0: No regional lymph node metastasis. N3: Metastasis in a lymph node larger than 6 cm in greatest dimension and ENE(-); or in a single ipsilateral node larger than 3 cm in greatest dimension and ENE(+); or multiple ipsilateral, contralateral, or bilateral nodes any with ENE(+). M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4331344|Stage IVB includes: Any T, Any N, M1. M1: Distant metastasis. (AJCC 8th ed.)|NCI|N|
C4331345|Stage IVB includes: T0, N3, M0. T0: No evidence of primary tumor. N3: Metastasis in a cervical lymph node larger than 6 cm in greatest dimension and ENE(-); or metastases in a single ipsilateral cervical lymph node larger than 3 cm in greatest dimension and ENE(+); or metastases in multiple ipsilateral, contralateral, or bilateral cervical lymph nodes, any size and ENE(+) in any node. M0: No distant metastasis. (AJCC 8th Ed.)|NCI|N|
C4331346|Stage IVC includes: Any T, Any N, M1. M1: distant metastasis. (AJCC 8th ed.)|NCI|N|
C4331347|Stage IVC includes: Any T, Any N, M1. M1: Distant metastasis. (AJCC 8th Ed.)|NCI|N|
C4331348|Stage IVC includes: Any T, Any N, M1. M1: distant metastasis. (AJCC 8th ed.)|NCI|N|
C4331349|Congenital lipoid adrenal hyperplasia (CLAH) due to loss-of-function mutations in the STAR gene, resulting in decreased or absent production of steroidogenic acute regulatory protein (StAR), which leads to deficient transport of cholesterol from the outer to the inner mitochondrial membrane.|NCI|N|
C4331357|An area of the body exposed to sunlight.|NCI|N|
C4331360|A finding indicating the presence of an ependymal tumor in the supratentorial region of the brain.|NCI|N|
C4331369|A change in the nucleotide sequence of the TERT gene.|NCI|N|
C4331378|A change in the nucleotide sequence of the TSHR gene.|NCI|N|
C4331393|Familial glucocorticoid deficiency caused by mutation(s) in the TXNRD2 gene encoding thioredoxin reductase 2.|NCI|N|
C4331398|A chromosomal aberration where the telomeric and subtelomeric regions of a chromosome does not have the expected 1:1 ratio for the alleles and telomeric sequences inherited from the two parental chromosomes.|NCI|N|
C4331399|A finding indicating the presence of an ependymal tumor in the temporal lobe of the brain.|NCI|N|
C4331400|A finding indicating the presence of an ependymal tumor in the temporal and parietal lobes of the brain.|NCI|N|
C4331401|A finding indicating the presence of an ependymal tumor in the temporal and parietal lobes, and a lateral ventricle of the brain.|NCI|N|
C4331404|An indication that a test was not ordered.|NCI|N|
C4331406|A finding indicating the presence of an ependymal tumor in the third ventricle of the brain.|NCI|N|
C4331407|A finding indicating the presence of an ependymal tumor in the thoracic region of spinal cord.|NCI|N|
C4331408|A finding indicating the presence of an ependymal tumor in the thoracic and lumbosacral regions of spinal cord.|NCI|N|
C4331419|A disorder characterized by the partial or complete absence of tissue-type kallikrein activity in the tissues and glandular secretions where it is normally present.|NCI|N|
C4331425|Monogenic diabetes caused by inactivating mutation(s) in transcription factors regulating expression of pancreatic beta cell genes.|NCI|N|
C4331426|Hyperinsulinism that resolves spontaneously. This is the most common cause of neonatal hypoglycemia.|NCI|N|
C4331427|Primary hypothyroidism that resolves spontaneously.|NCI|N|
C4331435|A subjective score of 1 on a scale that ranges from 1: yes, that is true to 5: no, that is not true.|NCI|N|
C4331436|A subjective score of 2 on a scale that ranges from 1: yes, that is true to 5: no, that is not true.|NCI|N|
C4331437|A subjective score of 3 on a scale that ranges from 1: yes, that is true to 5: no, that is not true.|NCI|N|
C4331438|A subjective score of 4 on a scale that ranges from 1: yes, that is true to 5: no, that is not true.|NCI|N|
C4331439|A subjective score of 5 on a scale that ranges from 1: yes, that is true to 5: no, that is not true.|NCI|N|
C4331442|An evaluation of the tumor marker response of the disease to the therapy.|NCI|N|
C4331450|An indication that an action, task, or function was not done due to a lack of skill, means, or opportunity.|NCI|N|
C4331453|A term that refers to the staging of unknown primary tumor (except for EBV-related and HPV-related tumors) and metastatic cervical adenopathy according to the American Joint Committee on Cancer, 8th edition.|NCI|N|
C4331454|A clinical finding about one or more characteristics of an unknown primary tumor, following the rules of the TNM AJCC v8 classification system as they pertain to staging of cervical lymph nodes. It applies to patients who are treated with primary nonsurgical treatment without a cervical lymph node dissection. (from AJCC 8th Ed.)|NCI|N|
C4331455|A pathologic finding about one or more characteristics of an unknown primary tumor, following the rules of the TNM AJCC v8 classification system as they pertain to staging of cervical lymph nodes. It applies to patients who are treated surgically with a cervical lymph node dissection. (from AJCC 8th Ed.)|NCI|N|
C4331456|Unknown primary tumor with metastasis in a single ipsilateral cervical lymph node larger than 3 cm but not larger than 6 cm in greatest dimension and ENE (extranodal extension)(-); or metastases in multiple ipsilateral cervical lymph nodes, none larger than 6 cm in greatest dimension and ENE(-); or metastases in bilateral or contralateral cervical lymph nodes, none larger than 6 cm in greatest dimension, ENE(-). (from AJCC 8th Ed.)|NCI|N|
C4331457|Unknown primary tumor with metastasis in a single ipsilateral cervical lymph node larger than 3 cm but not larger than 6 cm in greatest dimension and ENE(-). (from AJCC 8th Ed.)|NCI|N|
C4331458|Unknown primary tumor with metastases in multiple ipsilateral cervical lymph nodes, none larger than 6 cm in greatest dimension and ENE(-). (from AJCC 8th Ed.)|NCI|N|
C4331459|Unknown primary tumor with metastases in bilateral or contralateral cervical lymph nodes, none larger than 6 cm in greatest dimension, ENE(-). (from AJCC 8th Ed.)|NCI|N|
C4331460|Unknown primary tumor with metastasis in a cervical lymph node larger than 6 cm in greatest dimension and ENE(-); or metastasis in any cervical node(s) with clinically overt ENE(+) (ENEc). ENEc is defined as invasion of skin, infiltration of musculature, dense tethering or fixation to adjacent structures, or cranial nerve, brachial plexus, sympathetic trunk, or phrenic nerve invasion with dysfunction. (from AJCC 8th Ed.)|NCI|N|
C4331461|Unknown primary tumor with metastasis in a cervical lymph node larger than 6 cm in greatest dimension and ENE(-). (from AJCC 8th Ed.)|NCI|N|
C4331462|Unknown primary tumor with metastasis in any cervical node(s) with clinically overt ENE(+) (ENEc). ENEc is defined as invasion of skin, infiltration of musculature, dense tethering or fixation to adjacent structures, or cranial nerve, brachial plexus, sympathetic trunk, or phrenic nerve invasion with dysfunction. (from AJCC 8th Ed.)|NCI|N|
C4331463|Unknown primary tumor in which no regional lymph node metastases are detected. (from AJCC 8th Ed.)|NCI|N|
C4331464|Unknown primary tumor with metastasis in a single ipsilateral lymph node, 3 cm or smaller in greatest dimension and ENE (extranodal extension)(-). (from AJCC 8th Ed.)|NCI|N|
C4331465|Unknown primary tumor with metastasis in a single ipsilateral or contralateral cervical lymph node 3 cm or smaller in greatest dimension and ENE(+); or metastasis in a single ipsilateral cervical lymph node larger than 3 cm but not larger than 6 cm in greatest dimension and ENE(-); or metastases in multiple ipsilateral cervical lymph nodes, none larger than 6 cm in greatest dimension and ENE(-); or metastases in bilateral or contralateral cervical lymph nodes, none larger than 6 cm in greatest dimension and ENE(-). ENE detected on histopathologic examination is designated as ENEmi (microscopic ENE equal or less than 2 mm) or ENEma (major ENE more than 2 mm). (from AJCC 8th Ed.)|NCI|N|
C4331466|Unknown primary tumor with metastases in multiple ipsilateral cervical lymph nodes, none larger than 6 cm in greatest dimension and ENE(-). (from AJCC 8th Ed.)|NCI|N|
C4331467|Unknown primary tumor with metastases in bilateral or contralateral cervical lymph nodes, none larger than 6 cm in greatest dimension and ENE(-). (from AJCC 8th Ed.)|NCI|N|
C4331468|Unknown primary tumor with metastasis in a cervical lymph node larger than 6 cm in greatest dimension and ENE(-); or metastases in a single ipsilateral cervical lymph node larger than 3 cm in greatest dimension and ENE(+); or metastases in multiple ipsilateral, contralateral, or bilateral cervical lymph nodes, any size and ENE(+) in any node. (from AJCC 8th Ed.)|NCI|N|
C4331469|Unknown primary tumor with metastasis in a cervical lymph node larger than 6 cm in greatest dimension and ENE(-). (from AJCC 8th Ed.)|NCI|N|
C4331470|Unknown primary tumor with metastases in a single ipsilateral cervical lymph node larger than 3 cm in greatest dimension and ENE(+); or metastases in multiple ipsilateral, contralateral, or bilateral cervical lymph nodes, any size and ENE(+) in any node. (from AJCC 8th Ed.)|NCI|N|
C4331471|Unknown primary tumor in which the regional lymph nodes cannot be assessed. (from AJCC 8th Ed.)|NCI|N|
C4331473|An adenocarcinoma that arises from the gastrointestinal system and is not amenable to surgical resection.|NCI|N|
C4331474|A Ewing sarcoma which is not amenable to surgical resection.|NCI|N|
C4331475|A leiomyosarcoma which is not amenable to surgical resection.|NCI|N|
C4331476|A liposarcoma which is not amenable to surgical resection.|NCI|N|
C4331477|An osteosarcoma which is not amenable to surgical resection.|NCI|N|
C4331478|A carcinoma that arises from the thyroid gland and is not amenable to surgical resection.|NCI|N|
C4331479|A transitional cell carcinoma which is not amenable to surgical resection.|NCI|N|
C4331480|A finding of rhabdomyosarcoma in adulthood that has not been treated.|NCI|N|
C4331481|A finding of chronic lymphocytic leukemia that has not been treated.|NCI|N|
C4331482|A finding of small cell carcinoma which has spread beyond one hemi-thorax and the regional lymph nodes and has not been treated.|NCI|N|
C4331483|A finding of small lymphocytic lymphoma that has not been treated.|NCI|N|
C4331485|A response indicating that an individual is or has been urinary continent for over 7 days.|NCI|N|
C4331490|The presence of oxidized elements in cholesterol-bearing very low-density lipoprotein (VLDL) particles in the blood. Oxidation may be associated with increased risk for atherosclerosis.|NCI|N|
C4331497|A finding indicating the presence of an ependymal tumor in a brain ventricle.|NCI|N|
C4331498|A finding indicating that a neoplasm affects exclusively a brain ventricle.|NCI|N|
C4331499|A finding indicating the presence of an ependymal tumor in a brain ventricle and the brain stem.|NCI|N|
C4331500|A response indicating a very high level of confidence.|NCI|N|
C4331501|A response indicating a very low level or an absence.|NCI|N|
C4331504|An autosomal recessive form of rickets caused by mutation(s) in the VDR gene, encoding the vitamin D receptor. The condition is characterized by hypocalcemia, increased concentrations of calcitriol, secondary hyperparathyroidism, early-onset rickets and alopecia.|NCI|N|
C4331505|An electrocardiographic finding of large QRS amplitudes that may indicate left ventricular hypertrophy, but is without any of the secondary findings that are typically seen with this diagnosis: left atrial enlargement, left axis deviation, or typical pattern of ST depression and T wave inversion.|NCI|N|
C4331744|A response indicating that an individual experiences or experienced something when walking on flat ground.|NCI|N|
C4331745|A response indicating that an individual can walk with verbal or physical help of one person.|NCI|N|
C4331759|A group of syndromes caused by autosomal dominant mutation(s) in the WT1 gene, encoding Wilms tumor protein. Patients with this mutation may have a predisposition to developing Wilms tumors.|NCI|N|
C4331760|A response indicating that an individual is able to do an activity without help but it is difficult.|NCI|N|
C4331762|Hypothyroidism induced by excessive levels of iodine in the blood.|NCI|N|
C4331805|A cytogenetic abnormality that refers to the translocation of chromosome 10p12 with chromosome 11q23. It is associated with acute myeloid leukemia in childhood.|NCI|N|
C4331807|A cytogenetic abnormality that refers to the translocation of chromosome 11p15 with chromosome 15q35. It results in the formation of NUP98/JARID1A fusion gene. It is associated with the development of acute myeloid leukemia with t(11;15)(p15;q35); NUP98-JARID1A.|NCI|N|
C4331808|A cytogenetic abnormality that refers to the translocation of chromosome 11p15 with chromosome 5q35. It results in the formation of NUP98/NSD1 fusion gene. It is associated with the development of acute myeloid leukemia with t(5;11)(q35;p15); NUP98-NSD1.|NCI|N|
C4331809|A cytogenetic abnormality that involves a translocation between chromosomes 8 and 22.|NCI|N|
C4331810|A cytogenetic abnormality that refers to the translocation of 8p22 and 9p24.1. This translocation results in the fusion of the PCM1 gene and the JAK2 gene.|NCI|N|
C4331821|A molecular abnormality that results in monoallelic loss of function mutations located within the short arm of chromosome 9 (9p).|NCI|N|
C4331824|An autosomal dominant form of diabetes insipidus caused by mutation(s) in the AVP gene encoding arginine vasopressin.|NCI|N|
C4331827|A molecular genetic abnormality indicating the presence of multiple copies of the AKT3 gene.|NCI|N|
C4331829|A change in the nucleotide sequence of the NBN gene.|NCI|N|
C4331839|A change in the amino acid sequence of Bloom syndrome protein where a frameshift mutation results in the replacement of a tyrosine residue at position 736 with 3 non-canonic amino acids followed by a stop codon.|NCI|N|
C4331854|A change in the nucleotide sequence of the POLD1 gene.|NCI|N|
C4331856|A change in the nucleotide sequence of the CHEK1 gene.|NCI|N|
C4331858|A solitary fibrous tumor that arises from the central nervous system. It most often corresponds to the tumor previously diagnosed as anaplastic hemangiopericytoma.|NCI|N|
C4331860|A morphologic finding indicating the presence of blasts in a sample of cerebrospinal fluid.|NCI|N|
C4331861|A change in the amino acid residue at position 132 in the isocitrate dehydrogenase [NADP] cytoplasmic protein where arginine has been replaced by glycine.|NCI|N|
C4331865|A response indicating that an individual did not hear ringing or other noises.|NCI|N|
C4331874|A response indicating that something is or was extremely difficult or impossible.|NCI|N|
C4331875|A change in the nucleotide sequence of the FANCC gene.|NCI|N|
C4331888|A clinical finding about one or more characteristics of HPV-mediated (p16-positive) oropharyngeal cancer, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4331893|Hypopharyngeal cancer with very advanced local disease. Tumor invades prevertebral fascia, encases carotid artery, or involves mediastinal structures. (from AJCC 8th Ed.)|NCI|N|
C4331894|Goiter associated with reduced thyroid hormone secretion.|NCI|N|
C4331900|Central hypothyroidism due to medical or surgical treatment.|NCI|N|
C4331901|Conditions affecting individuals whose karyotype is 46,XY that is characterized by atypical development of the internal or external sex structures, or the gonads, and in whom no genetic, environmental, or biochemical causation can be established.|NCI|N|
C4331909|A molecular genetic abnormality indicating the presence of multiple copies of the TP53 gene.|NCI|N|
C4331913|Major salivary gland cancer with metastasis in multiple ipsilateral lymph nodes, none more than 6 cm in greatest dimension and ENE(-). (from AJCC 8th Ed.)|NCI|N|
C4331915|The identification of a tumor or lesion that is present at baseline, located outside of or independent of any lymph nodes, and is not the target of the therapeutic intervention.|NCI|N|
C4331917|A term that refers to the staging of nasopharyngeal carcinoma according to the American Joint Committee on Cancer, 8th edition.|NCI|N|
C4331919|Nutritional rickets due to dietary deficiency of vitamin D.|NCI|N|
C4331921|Insulin resistance associated with obesity, which may be attributed in part to impaired insulin signaling in target tissues, or impaired insulin-stimulated glucose transport due to reduced expression of the glucose transporter protein 4.|NCI|N|
C4331924|Oropharyngeal (p16-negative) cancer with metastasis in a single ipsilateral lymph node larger than 3 cm in greatest dimension and ENE(+); or metastases in multiple ipsilateral, contralateral, or bilateral lymph nodes any with ENE(+). (from AJCC 8th Ed.)|NCI|N|
C4331930|A response indicating that a parent refused the current questionnaire.|NCI|N|
C4331933|A response indicating that an individual prefers or preferred not to answer.|NCI|N|
C4331952|Growth hormone insensitivity syndrome caused by mutation(s) in the STAT5B gene, encoding signal transducer and activator of transcription 5B, a protein critical for the transcription of growth hormone-dependent genes.|NCI|N|
C4331954|Stage IV includes: IVA (T4a, N0, M0); (T4a, N1, M0); (T0, N2, M0); (T1, N2, M0); (T2, N2, M0); (T3, N2, M0); (T4a, N2, M0); IVB (T4b, Any N, M0); (Any T, N3, M0); IVC (Any T, Any N, M1). T4a: Moderately advanced disease. Tumor invades skin, mandible, ear canal, and/or facial nerve. T0: No evidence of primary tumor. T1: Tumor measuring 2 cm or less in greatest dimension without extraparenchymal extension. T2: Tumor measuring more than 2 cm, but not more than 4 cm in greatest dimension without extraparenchymal extension. T3: Tumor measuring more than 4 cm in greatest dimension, and/or tumor having extraparenchymal extension. T4b: Very advanced disease. Tumor invades skull base and/or pterygoid plates and/or encases carotid artery. N0: No regional lymph node metastasis. N1: Metastasis in a single ipsilateral lymph node, 3 cm or less in greatest dimension. N2: Metastasis in a single ipsilateral lymph node, 3 cm or less in greatest dimension and ENE(+); or more than 3 cm but not more than 6 cm in greatest dimension and ENE(-); or metastases in multiple ipsilateral lymph nodes, none more than 6 cm in greatest dimension and ENE(-), or in bilateral or contralateral lymph nodes, none more than 6 cm in greatest dimension and ENE(-). N3: Metastasis in a lymph node larger than 6 cm in greatest dimension and ENE(-); or in a single ipsilateral node larger than 3 cm in greatest dimension and ENE(+); or multiple ipsilateral, contralateral, or bilateral nodes any with ENE(+). M0: No distant metastasis. M1: Distant metastasis. (AJCC 8th ed.)|NCI|N|
C4331955|Stage IVC includes: Any T, Any N, M1. M1: Distant metastasis. (AJCC 8th ed.)|NCI|N|
C4331963|A response indicating that when an individual has or had bloating, it was very mild.|NCI|N|
C4331964|A response indicating a very low level of confidence or an absence.|NCI|N|
C4331965|A molecular subtype of medulloblastoma associated with activation of the WNT pathway. TP53 mutations may be present or absent. WNT pathway activation in medulloblastomas is associated with good outcome.|NCI|N|
C4331968|A response indicating that an individual is urinary incontinent or catheterized and unable to manage.|NCI|N|
C4331969|A response indicating that an individual needs help with dressing but can do about half unaided.|NCI|N|
C4331970|A response indicating that an individual has a fecal accident about once per week.|NCI|N|
C4331975|Stage IV includes: Any T, Any N, M1. M1: Distant metastasis. (AJCC 8th ed.)|NCI|N|
C4331976|A subjective score of 100% on a scale that ranges from 0%: None to 100%: All of my food.|NCI|N|
C4331980|A cytogenetic abnormality that refers to the translocation of chromosome 11p15 with chromosome 12p13. It results in NUP98-KDM5A fusion and is associated with acute megakaryoblastic leukemia in childhood.|NCI|N|
C4331981|A clinical finding about one or more characteristics of head and neck cancer, following the rules of the TNM AJCC v8 classification system as they pertain to staging of regional lymph nodes.|NCI|N|
C4331982|Head and neck cancer in which the regional lymph nodes cannot be assessed. (from AJCC 8th Ed.)|NCI|N|
C4331985|A subjective score of 5 on a difficulty falling asleep scale that ranges from 0: No difficulty to 10: Didn''t fall asleep.|NCI|N|
C4331986|A subjective score of 8 on a visual analogue scale that ranges from 0: No distress to 10: Extreme distress.|NCI|N|
C4331987|Stage IVA includes: (T4a, N0, M0); (T4a, N1, M0); (T1, N2, M0); (T2, N2, M0); (T3, N2, M0); (T4a, N2, M0). T4a: Moderately advanced local disease. Tumor invades the larynx, extrinsic muscle of tongue, medial pterygoid, hard palate, or mandible. Mucosal extension to lingual surface of epiglottis from primary tumors of the base of the tongue and vallecula does not constitute invasion of the larynx. T1: Tumor 2 cm or smaller in greatest dimension. T2: Tumor larger than 2 cm but not larger than 4 cm in greatest dimension. T3: Tumor larger than 4 cm in greatest dimension or extension to lingual surface of epiglottis. N0: No regional lymph node metastasis. N1: Tumor with metastasis in a single ipsilateral lymph node, 3 cm or smaller in greatest dimension and ENE(-). N2: Tumor with metastasis in a single ipsilateral lymph node, 3 cm or smaller in greatest dimension and ENE(+); or larger than 3 cm but not larger than 6 cm in greatest dimension and ENE(-); or metastases in multiple ipsilateral lymph nodes, none larger than 6 cm in greatest dimension and ENE(-); or metastases in bilateral or contralateral lymph nodes, none larger than 6 cm in greatest dimension and ENE(-). M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4331988|Stage IVB includes: (Any T, N3, M0); (T4b, Any N, M0). T4b: Very advanced local disease. Tumor invades lateral pterygoid muscle, pterygoid plates, lateral nasopharynx, or skull base or encases carotid artery. N3: Tumor with metastasis in a lymph node larger than 6 cm in greatest dimension and ENE(-); or metastasis in a single ipsilateral lymph node larger than 3 cm in greatest dimension and ENE(+); or metastases in multiple ipsilateral, contralateral, or bilateral lymph nodes any with ENE(+). M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4331989|An acquired coagulation disorder characterized by the partial or complete absence of factor VII activity in the blood.|NCI|N|
C4331992|Unknown primary tumor with metastasis in a single ipsilateral or contralateral cervical lymph node 3 cm or smaller in greatest dimension and ENE(+); or metastasis in a single ipsilateral cervical lymph node larger than 3 cm but not larger than 6 cm in greatest dimension and ENE(-). (from AJCC 8th Ed.)|NCI|N|
C4331993|A response indicating that an individual is independently mobile but may require the use of an aid, such as a cane or stick.|NCI|N|
C4331996|A finding indicating the presence of an ependymal tumor in the cerebellum, fourth ventricle, and brain stem.|NCI|N|
C4331997|Stage IVC includes: T0, Any N, M1. T0: No evidence of primary tumor. M1: Distant metastasis. (AJCC 8th Ed.)|NCI|N|
C4476532|Abnormal outpouching or sac-like dilatation in an artery that originates from the abdominal aorta.|HPO|N|
C4476534|Loss of bone mass occurring beneath the periosteum (the periosteum is the connective-tissue membrane that surrounds all bones except at the articular surfaces). This process may create a serrated and lace-like appearance in periosteal cortical bone.|HPO|N|
C4476537|An abnormally reduced amount of adipose tissue in the thoracic cavity.|HPO|N|
C4476539|Electron dense deposits at the glomerular basement membrane,|HPO|N|
C4476540|The presence of a localized dilatation or ballooning of a cerebral artery.|HPO|N|
C4476543|A type of third degree heart block in which the escape rhythm arises at a relatively low part of the conduction system (below the atrioventricular node), which produces a wide QRS complex.|HPO|N|
C4476545|A localized outpouching of ventricular cavity that is generally associated with dyskinesia and paradoxical expansion during systole.|HPO|N|
C4476547|Presence of multiple dilatations (sac-like outpouchings) in the blood vessels of the conjunctiva.|HPO|N|
C4476551|Abnormal outpouching or sac-like dilatation of one of the anatomic dilations of the ascending aorta, which occurs just above the aortic valve.|HPO|N|
C4476552|Abnormal outpouching or sac-like dilatation in the wall of the inferior mesenteric artery or superior mesenteric artery .|HPO|N|
C4476553|A bulging of the interatrial septum towards one side. In adults, atrial septal aneurysm can be defined as a protrusion of the aneurysm of >10 mm beyond the plane of the atrial septum as measured by transesophageal echocardiography.|HPO|N|
C4476554|A dilatation (balooning or bulging out of the vessel wall) of a carotid artery.|HPO|N|
C4476555|The presence of complement 3 deposits in the glomerulus.|HPO|N|
C4476558|Focal proliferation of glial cells in the hypothalamus.|HPO|N|
C4476559|Swelling within the basal ganglia due to the accumulation of fluid.|HPO|N|
C4476560|Swelling within the thalamus due to the accumulation of fluid.|HPO|N|
C4476561|Calcium deposition in the thalamus.|HPO|N|
C4476562|A morphological anomaly of lymph nodes in the mesenteric root or throughout the mesentery.|HPO|N|
C4476563|Increase in size of one or more mesenteric lymph nodes.|HPO|N|
C4476564|A deviation from normal of the level of lactate in the brain identified by magnetic resonance spectroscopy (MRS).|HPO|N|
C4476565|A decrease in the level of lactate in the brain identified by magnetic resonance spectroscopy (MRS).|HPO|N|
C4476566|A deviation from normal in the level of choline-containing compounds in the brain identified by magnetic resonance spectroscopy (MRS).|HPO|N|
C4476567|An decrease in the level of choline-containing compounds in the brain identified by magnetic resonance spectroscopy (MRS).|HPO|N|
C4476569|An increase in the level of creatine in the brain identified by magnetic resonance spectroscopy (MRS).|HPO|N|
C4476570|A decrease in the level of creatine in the brain identified by magnetic resonance spectroscopy (MRS).|HPO|N|
C4476571|A deviation from normal in the level of N-acetyl aspartate in the brain identified by magnetic resonance spectroscopy (MRS).|HPO|N|
C4476572|An increase in the level of N-acetyl aspartate in the brain identified by magnetic resonance spectroscopy (MRS).|HPO|N|
C4476573|A structural anomaly of the olfactory lobe, the structure within the brain that receives neural input from the nasal cavity and thereby processes the sense of smell.|HPO|N|
C4476574|Partial or complete wasting (loss) of hypothalamus tissue that was once present.|HPO|N|
C4476575|Multiple abscess lesions in the spleen.|HPO|N|
C4476576|Single (solitary) abscess in the spleen.|HPO|N|
C4476577|Strabismus in which the angle of deviation differs depending upon the direction of gaze or according to which eye is fixing, associated with|HPO|N|
C4476578|Direction of the U wave opposite to the T wave (i.e., below baseline) in leads with upright T waves.|HPO|N|
C4476579|U wave inversion that is induced by exercise stress testing.|HPO|N|
C4476580|An anomaly of the complex formed by the Q, R, and S waves, which occur in rapid succession on the electrocardiogram.|HPO|N|
C4476581|Abnormal amplitude of the QRS complex of the electrocardiogram (EKG).|HPO|N|
C4476582|Any structural anomaly of the elastic fibers of the skin. Elastic fibers are the essential extracellular matrix macromolecules comprising an elastin core surrounded by a mantle of fibrillin-rich microfibrils.|HPO|N|
C4476583|Passage of many stools containing blood and mucus.|HPO|N|
C4476584|Area of skin requiring an increased amount of time to return to its original shape after being stretched.|HPO|N|
C4476585|A structural anomaly of the mucous lining of the large intestine.|HPO|N|
C4476586|A retinal exudate in the area surrounding the optic nerve head.|HPO|N|
C4476587|A subretinal scar with a disc-like shape in the region of the macula.|HPO|N|
C4476588|Structural abnormality of the hypothalamus related to defective development.|HPO|N|
C4476589|Structural abnormality of the thalamus related to defective development.|HPO|N|
C4476590|Any structural anomaly of the hippocampus,|HPO|N|
C4476591|Structural abnormality of the hippocampus related to defective development.|HPO|N|
C4476592|Structural abnormality of the basal ganglia related to defective development.|HPO|N|
C4476593|A type of skin nodule that has a small depression that resembles a navel (i.e., is umbilicated).|HPO|N|
C4476594|A variant of port-wine stain characterized by a pale red or even pink tone, in contrast to the darker hue of the port-wine stain. By analogy with the term port-wine stain, this variant rose-wine stain, or nevus roseus. Nevus roseus, however, cannot be definitely diagnosed until adulthood as port-wine stains are sometimes pink in children. While the natural history of port-wine stains includes hypertrophy, darkening, and nodularity, nevus roseus remains unchanged for life.|HPO|N|
C4476595|Decrease in the level of pyruvate kinase (PK) within erythrocytes. PK catalyzes the reaction|HPO|N|
C4476596|Yellow/white, sharply delineated lesion, typically of inflammatory nature, involving the macula.|HPO|N|
C4476597|Rete pegs (or ridges) are the epithelial extensions that project into the underlying connective tissue in both skin and mucous membranes. Rete ridge flattening refers to the loss of these projections so that the skin epithelium acquires a relatively flat appearance.|HPO|N|
C4476598|An alteration of the color of the lip to take on a violet color. This term does not include cyanosis.|HPO|N|
C4476599|A type of epidermal acanthosis characterized by a jagged (sawtooth) appearance of the rete ridges of the epidermis.|HPO|N|
C4476600|Areas of white discoloration visible on the surface of the teeth (enamel) in the form of streaks or specks.|HPO|N|
C4476601|White lesions of the oral mucosa are generally caused by a condition that increases the thickness of the epithelium. This increases the distance to the vascular bed and thereby tends to change the usual reddish color of the oral mucosa to white. Common causes include hyperkeratosis (thickening of the keratin layer), acanthosis (thickening of the spinous cell layer), increased edema in the epithelium (leukoedema), and reduced vascularity of the underlying lamina propria. Additionally, fibrin caps or surface ulcerations and collapsed bullae can appear white.|HPO|N|
C4476602|An abnormally reduced amount of adipose tissue in the abdominal cavity.|HPO|N|
C4476603|A structural anomaly of the mucous lining of the small intestine.|HPO|N|
C4476604|Lactase is produced in the small intestine in humans, Lactase is a member of the beta-galactosidase family of enzymes, and hydrolyzes D-lactose to form D-galactose and D-glucose, which can be absorbed by the small intestine. There are many ways of assessing lactase activity. In one test, an endoscopic biopsy from the postbulbar duodenum is incubated with lactose on a test plate, and a color reaction develops within 20 min as a result of hydrolyzed lactose (a positive result) in patients with normolactasia, whereas no reaction (a negative result) develops in patients with severe hypolactasia. Other, less direct, tests include the hydrogen breath test, and blood tests following lactose challenges.|HPO|N|
C4476605|A deviation from normal concentration of the hormone estrogen in the blood circulation.|HPO|N|
C4476606|A deviation from normal concentration of estriol in the circulation.|HPO|N|
C4476607|An elevation above normal limits of estriol concentration in the circulation.|HPO|N|
C4476608|A reduction below normal limits of estriol in the circulation.|HPO|N|
C4476609|A deviation from the normal concentration of circulating estrone.|HPO|N|
C4476610|An elevation above normal limits of the concentration of estrone in the circulation.|HPO|N|
C4476611|A reduction below normal limits of the concentration of estrone in the circulation.|HPO|N|
C4476612|Ectopic deposition of calcium salts found in the gingiva.|HPO|N|
C4476613|Deterioration of the tissue of the fovea, i.e.,the region of sharpest vision within the macula of the retina.|HPO|N|
C4476614|A shiny appearance of the macula, which is often called a beaten bronze appearance.|HPO|N|
C4476615|A fluorescein angiographic finding of absence of the normal background fluorescence (a dark choroid).|HPO|N|
C4476616|Partial or complete wasting (loss) of muscularois propria tissue that was once present. The atrophy may involve a marked vacuolar degeneration of myocytes, loss of muscle fibers and some cases a highly characteristic honeycomb fibrosis.|HPO|N|
C4476619|Lack of visual responsiveness or decrease in visual capabilities suggesting a lack of visual responsiveness or decrease in visual capabilities in an infant or young child in which visual behavior fails to meet normal developmental milestones.|HPO|N|
C4476620|Presence of biliary veins that serve as a collateral channel to the systemic circulation|HPO|N|
C4476621|A functional anomaly of the hepatobiliary system|HPO|N|
C4476622|Inability to be weaned from intravenous (parenteral) nutrition, as judged by the hydration status (urine output, blood urea nitrogen, creatinine, urine sodium concentration), ability to maintain weight, stool output, and serum electrolyte status.|HPO|N|
C4476623|Increased amount of autofluorescence in the retina as ascertained by fundus autofluorescence imaging.|HPO|N|
C4476624|Decreased amount of autofluorescence in the retina as ascertained by fundus autofluorescence imaging.|HPO|N|
C4476625|Temper tantrums are brief episodes of extreme, unpleasant, and sometimes aggressive behaviors in response to frustration or anger, which are a normal part of development in toddlers. Temper tantrums that occur more frequently in a given time and/or are more severe in symptomatology and/or longer in duration and/or inappropriate for the given age compared to a temper tantrum that naturally occurs as a part of the developmental process are classified as abnormal temper tantrums.|HPO|N|
C4476626|Temper tantrums that occur more frequently compared to the temper tantrums that are a part of the normal developmental process.|HPO|N|
C4476627|Temper tantrums, which occur with more severe symptomatology compared to a temper tantrum that occurs as a part of normal developmental process.|HPO|N|
C4476628|A structural abnormality of the optic chiasm.The optic chiasm, located below the hypothalamus, is a partial crossing of the optic nerves.|HPO|N|
C4476629|An elevated number of elastic fibers, that is of bundles of proteins and glycoproteins in the extracellular matrix in the reticular dermis. Elastic fibers can stretch and recoil back to their original length. This feature can be appreciated on histology with hematoxylin and eosin or other staining methods.|HPO|N|
C4476630|Formation of clumps or aggregates that make up small protuberances from elastic fibers within the dermis (especially the reticular dermis).|HPO|N|
C4476631|An increase of the diameter of elastic fibers in the dermis.|HPO|N|
C4476632|Elastic fibers in the dermis exhibit an increased number of breaks associated with disorganization of the structure of the elastic fibers.|HPO|N|
C4476633|Thickening of the interlobular septa of the lungs as seen on a high-resolution computed tomography scan with a smooth appearance of the interlobular septa.|HPO|N|
C4476634|Thickening of the interlobular septa of the lungs as seen on a high-resolution computed tomography scan with a nodular or beaded appearance of the interlobular septa.|HPO|N|
C4476635|Thickening of the interlobular septa of the lungs as seen on a high-resolution computed tomography scan with an irregular appearance of the interlobular septa. THis feature is often associated with distortion of lung architecture.|HPO|N|
C4476636|A fine reticular pattern on high-resolution computed tomography, with the visible lines separated by a few millimeters. Regions of the lung with intralobular interstitial thickening characteristically show a fine lacelike or netlike appearance.|HPO|N|
C4476637|Thickening of the peribronchovascular interstitium, a connective tissue sheath that surrounds the central bronchi and pulmonary arteries. The peribronchovascular interstitium extends from the level of the pulmonary hila into the peripheral lung. This feature may be ascertained on high-resolution computer tomography.|HPO|N|
C4476638|Increase in thickness of the subpleural interstitium.|HPO|N|
C4476640|A hazy area of increased attenuation in centrilobular areas of the lung with preserved bronchial and vascular markings seen on a computer tomography scan. Centrilobular refers to a location that is central within secondary pulmonary lobules.|HPO|N|
C4476641|An abscess-like lesion located within the abdomen. The lesions are localized in the spleen, liver, abdominal lymph nodes. The lesions represent visceral sterile collections of mature neutrophils that do not respond to antibiotics but regress quickly when treated with corticosteroids, but relapses occur frequently.|HPO|N|
C4476642|A confined region of lax skin that hangs below the level of the surrounding skin. Histopatholigically, there is a loss of elastic fibers in the dermis of the affected region.|HPO|N|
C4476643|A bilateral tonic-clonic seizure with generalized onset is a type of bilateral tonic-clonic seizure characterized by generalized onset; these seizures rapidly engage networks in both hemispheres at the start of the seizure.|HPO|N|
C4476645|Areas of brighter than expected signal on magnetic resonance imaging emanating from the cerebral white matter that surrounds the fourth cerebral ventricle (which is located beneath the tentorium of the cerebellum).|HPO|N|
C4476646|A congenital diaphragm defect involving the central tendinous (e.g., amuscular) portion of the diaphragm, whereby the entire rim of diaphragmatic musculature is present.|HPO|N|
C4476647|A non-malignant sessile or pedunculated polyp in the colon and rectum that displays a cap of inflammatory granulation tissue with fibrinopurulent exudate that covers the polyp.|HPO|N|
C4476648|Accumulation in muscle cells of filaments composed of actin.|HPO|N|
C4476649|A deviation from the normal concentration in blood of an apolipoprotein, i.e., of a protein that binds lipids to form lipoprotein and is thereby responsible for the transport of lipids in the blood and lymph circulation.|HPO|N|
C4476650|An increased concentration in blood of apolipoprotein A-IV, a major component of HDL and chylomicrons that has a role in VLDL secretion and catabolism and is required for efficient activation of lipoprotein lipase by ApoC-II.|HPO|N|
C4476679|A structural anomaly of a synovial bursa.|HPO|N|
C4476680|A parasomnia that occurs during non-rapid eye movement (NREM) sleep.|HPO|N|
C4476684|Any physiological abnormality of the esophagus.|HPO|N|
C4476685|Any functional anomaly of the skin adnexa (skin appendages), which are specialized skin structures located within the dermis and focally within the subcutaneous fatty tissue, comprising three histologically distinct structures|HPO|N|
C4476686|Sweating provoked by cold temperature rather than by heat.|HPO|N|
C4476698|An abnormal pupil shape that is elliptical, i.e., egg-like.|HPO|N|
C4476700|Leakage of fluorescein dye observed upon retinal fluorescein angiography. Areas of leakage can be appreciated as showing gradual enlargement with blurring of margins.|HPO|N|
C4476701|An anomaly of arterial function.|HPO|N|
C4476702|Reduced dimension of the solid part of the kidney (parenchyma, the renal cortex and medulla) as measured from the collecting system (renal calyces and pelvis) to the border of the kidney. This measurement can be performed by measuring the thickness of the parenchyma in computed tomography scans.|HPO|N|
C4476703|The presence of autoantibodies (immunoglobulins) in the serum that react against glutamic acid decarboxylase.|HPO|N|
C4476704|A limitation of the ability to direct one's gaze below the horizontal meridian.|HPO|N|
C4476705|A limitation of the ability to direct one's gaze above the horizontal meridian.|HPO|N|
C4476706|An anomaly of the outer shell (cortex) of a foot bone.|HPO|N|
C4476707|A reduction in the thickness of the outer shell (cortex) of foot bones.|HPO|N|
C4476709|A failure to achieve the ability to stand up at an appropriate developmental stage. Most children begin to walk alone at 11 to 15 months of age. On average, children can stand while holding on at the age of 9 to 10 months, can pull up to stand and walk with one hand being held at 12 months, and can stand alone and walk well at 18 months.|HPO|N|
C4476710|A failure to achieve the ability to sit at an appropriate developmental stage. Most children sit with support at 6 months of age and sit steadily without support at 9 months of age.|HPO|N|
C4476711|A ring of redness at the limbus of the eye, the border between the cornea and the sclera.|HPO|N|
C4476712|Prominence of blood vessels of the superficial episcleral tissues.|HPO|N|
C4476713|Prominence of blood vessels of the deep episcleral tissues.|HPO|N|
C4476714|Damage to and obliteration of intrahepatic bile ducts (bile ducts that transport bile between the Canals of Hering and the interlobar bile ducts).|HPO|N|
C4476715|A deviation from the normal concentration of beta-2-microglobulin in the blood.|HPO|N|
C4476716|Elevated concentration of beta-2-microglobulin in the blood.|HPO|N|
C4476717|Reduced concentration of beta-2-microglobulin in the blood.|HPO|N|
C4476718|An anomaly of the margin of the cornea overlapped by the sclera.|HPO|N|
C4476719|Swelling of the margin of the cornea overlapped by the sclera.|HPO|N|
C4476720|Conjunctival papillae with a diameter greater than 1 millimeter. They characteristically have flattened tops which sometimes demonstrate staining with fluorescein.|HPO|N|
C4476721|A history of repeated fungal infections located between the fingers or toes, usually manifested by scaling, maceration, and itching. The toes are more commonly affected than the fingers.|HPO|N|
C4476722|Description of conditions that are exclusively or predominantly observed to display de novo variants. In some cases, this may be due to the limited reproductive fitness of affected individuals.|HPO|N|
C4476723|A type of antinuclear antibody (ANA) positivity revealed by indirect immunofluorescence (IFL). The multiple nuclear dots (MND) pattern is immunomorphologically characterized by the staining of 3-20 dots of variable size distributed all over the cell nucleus, but sparing the nucleoli, and, in contrast to the anticentromere pattern, MND reactivity does not stain the chromosomes in mitotic cells.|HPO|N|
C4476724|An anomaly of cellular morphology or physiology.|HPO|N|
C4476727|A type of myoclonus in which the myoclonias shift from body region to another in a random and asynchronous fashion. Erratic myoclonus can affect the face or limbs, are brief, single or repetitive, very frequent and nearly continuous.|HPO|N|
C4476728|An abnormal polygonal shape of the calices of the kidney (which normally have a rounded or cup-shaped appearance).|HPO|N|
C4476729|Increased number of calices of the kidney.|HPO|N|
C4476730|A structural anomaly of the pyramid of the adult kidney, cone-shaped structures with a broad base adjacent to the renal cortex and the narrow apex that is termed papilla.|HPO|N|
C4476731|Undergrowth of the pyramid of the adult kidney, cone-shaped structures with a broad base adjacent to the renal cortex and the narrow apex that is termed papilla.|HPO|N|
C4476732|Hypercellularity due to increased number of cells within glomerular capillary lumina, causing narrowing of the lumina.|HPO|N|
C4476733|Hypercellularity (increased number of cells) in the renal glomerulus but external to the glomerular capillaries, i.e., in the Bowman space or more than one layer of parietal or visceral epithelial cells.|HPO|N|
C4476734|A structural anomaly of the growth plates (epiphyseal plates), areas of cartilage located near the ends of long bones that are located between the metaphysis (widened part of the shaft of the bone) and the epiphysis (end of the bone) and in which growth occurs in the developing bone. After conclusion of bone growth, the growth plates ossify (harden into solid bone).|HPO|N|
C4476735|Increased thickness (dimension along the axis of the bone) of the growth plate.|HPO|N|
C4476736|Abnormal bone tissue formation (ossification) affecting the sacrum.|HPO|N|
C4476737|Formation of the sacrum bone tissue occurs later than age-adjusted norms.|HPO|N|
C4476738|Interictal refers to a period of time between epileptic seizures. Electroencephalographic (EEG) patterns are important in the differential diagnosis of epilepsy, and the EEG is almost always abnormal during a seizure. Some persons with seizures may show EEG abnormalities between seizures, while others do not. In some cases, multiple interictal EEGs must be recorded before an abnormality is observed. In most cases the electrographic pattern of seizure onset is completely different from the activity recorded during interictal discharge.|HPO|N|
C4476739|The presence of two distinct odontoid processes. The odontoid process, also known as the dens of the axis, is a protuberance of the C2 vertebral body around which the first vertebra rotates.|HPO|N|
C4476740|Os odontoideum is classified into two anatomic types (orthotopic and dystopic). Os odontoideum is defined as an ossicle that consists of smooth and separate caudal portions of the odontoid process.With dystopic os odontoideum, the ossicle is located near the basion or is fused with the clivus.|HPO|N|
C4476741|An increased concentration of glutamine in the urine.|HPO|N|
C4476743|The presence of autoantibodies (immunoglobulins) in the serum that react against thyroid peroxidase.|HPO|N|
C4476744|Circulating antipituitary antibodies (APA) are markers of autoimmune hypophysitis, which may cause deficient pituitary function.|HPO|N|
C4476745|Areas of subcutanous fat tissue that are resistant to (do not respond as expected to) diet, life-style alteration, or bariatric surgery.|HPO|N|
C4476746|Areas of subcutanous fat tissue below the waist that are resistant to (do not respond as expected to) diet, life-style alteration, or bariatric surgery.|HPO|N|
C4476747|High-resolution computed tomography (HRCT) can distinguish findings that characterize characterize interstitial lung diseases in a way not possible with other modalities.|HPO|N|
C4476748|On pulmonary high-resolution computed tomography, reticular pattern is characterized by innumerable interlacing shadows suggesting a mesh.|HPO|N|
C4476749|The so-called crazy paving pattern appears as thickened interlobular septa and intralobular lines superimposed on a background of ground-glass opacity, resembling irregularly shaped paving stones. The crazy-paving pattern is often sharply demarcated from more normal lung and may have a geographic outline. It was originally reported in patients with alveolar proteinosis and is also encountered in other diffuse lung diseases that affect both the interstitial and airspace compartments, such as lipoid pneumonia.|HPO|N|
C4476750|A nodular pattern is characterized on pulmonary high-resolution computed tomography by the presence of numerous rounded opacities that range from 2 mm to 1 cm in diameter, with micronodules defined as smaller than 3 mm in diameter.|HPO|N|
C4476751|Co-occurrence of reticular and micronodular patterns on pulmonary high-resolution computed tomography.|HPO|N|
C4476752|On pulmonary high-resolution computed tomography, the cystic pattern is composed by well-defined, round and circumscribed air-containing parenchymal spaces with a well-defined wall and interface with normal lung. The wall of the cysts may be uniform or varied in thickness, but usually is thin (less than 2 mm) and occurs without associated emphysema.|HPO|N|
C4476753|Co-occurrence of the cystic pattern and the ground-glass pattern on pulmonary high-resolution computed tomography,|HPO|N|
C4476754|Areas of low density corresponding to parenchymal destruction and reduced perfusion, and attenuation of the pulmonary vasculature, as visualized on pulmonary high-resolution computed tomography.|HPO|N|
C4476755|A patchwork of intermingled areas of increased and decreased attenuation visualized on pulmonary high-resolution computed tomography.|HPO|N|
C4476756|A nodular pattern on pulmonary high-resolution computed tomography that has a perilymphatic distribution.|HPO|N|
C4476757|A nodular pattern on pulmonary high-resolution computed tomography that displays a tree-in-bud pattern, representing centrilobular branching structures that resemble a budding tree.|HPO|N|
C4476758|A nodular pattern on pulmonary high-resolution computed tomography that has an apparently random pattern.|HPO|N|
C4476759|A habitual positioning of the body with the head and upper back bent forward.|HPO|N|
C4476760|A deficit in the ability to fixate eye movements in order to stabilize images on the retina|HPO|N|
C4476761|Any anomaly of the structure of the spleen.|HPO|N|
C4476762|Any anomaly of the function of the spleen.|HPO|N|
C4476763|A type of urethral stricture affecting the fossa navicularis, which is the spongy part of the male urethra located at the glans penis.|HPO|N|
C4476764|A type of urethral stricture affecting the pendulous urethra, which is straight and fixed to the corpora cavernosa.|HPO|N|
C4476765|A type of urethral stricture affecting the bulbar urethra, which is the part of the urethra that traverses the root of the penis.|HPO|N|
C4476766|Urethra more open or expanded than normal.|HPO|N|
C4476767|A type of of pulmonary hemorrhage that originates from the pulmonary microcirculation, including the alveolar capillaries, arterioles, and venules. It presents with hemoptysis, anemia, diffuse lung infiltration, and acute respiratory failure. The diagnosis is confirmed by the observation of the accumulation of red blood cells, fibrin, or hemosiderin-laden macrophage in the alveolar space on pathologic biopsy. Hemosiderin, a product of hemoglobin degradation, appears at least 48-72 hours after bleeding and is helpful in distinguishing diffuse alveolar hemorrhage from surgical trauma. Mild interstitial thickening, organizing pneumonia, or diffuse alveolar damage can also be seen.|HPO|N|
C4476768|Any anomaly of the structure of the larynx.|HPO|N|
C4476769|Any anomaly of the function of the larynx.|HPO|N|
C4476770|Any structural anomaly of the bronchi, i.e., of the airways leading from the trachea to the lungs.|HPO|N|
C4476771|Any anomaly of the function of the bronchi.|HPO|N|
C4476772|A type of cry that is abnormal because it is consists of unusually shortened and detached vocalizations.|HPO|N|
C4476773|Reduced level of the enzyme lecithin cholesterol acyl transferase.|HPO|N|
C4476774|A diminished activity of the classical complement pathway as measured by the assay for 50% haemolytic complement (CH50) activity of serum.|HPO|N|
C4476775|Increased concentration of 11-deoxycortisol in the circulation. 11-deoxycorticosterone, which is also known as simply deoxycorticosterone and 21-hydroxyprogesterone, is a steroid hormore that is produces in the adrenals and is a precursor to aldosterone.|HPO|N|
C4476776|Increased size of the head of sperm.|HPO|N|
C4476777|Warm reactive autoantibodies are RBC-directed immune responses that are maximally reactive at 37 degrees C.|HPO|N|
C4476778|Ectopic deposition of calcium salts in the Achilles tendon.|HPO|N|
C4476779|An abnormality of the function of the cardiac atria.|HPO|N|
C4476780|A decrease in the volume (size) of the amygdyla.|HPO|N|
C4476781|Any structural anomaly of the papillary muscles of the left ventricle.|HPO|N|
C4476782|A congenital malformation in which one or both of the papillary muscles (posteromedial or anterolateral) insert directly (that is, without interpositioned chordae tendineae) into the anterior mitral leaflet.|HPO|N|
C4476783|Abnormal location of the insertion of a papillary muscle into the left ventricular wall.|HPO|N|
C4476784|Abnormally anterior location of the papillary muscles of the left ventricle.|HPO|N|
C4476785|Abnormal location of the insertion of the anterolateral papillary muscle near to the apex of the left ventricle. This feature may be appreciated by noting that this muscle is usually not seen in the apical level of the parasternal short-axis echocardiographic view,|HPO|N|
C4476786|Testicular adrenal rest tumor (TART) is a abenign tumor of the testis. TART generally occurs multiply and bilaterally within the rete testis. Histologically, TART resemble adrenocortical tissue, which led to the name. The tumous are not encapsulated and consist of sheets or confluent cords of large polygonal cells with abundant eosinophilic cytoplasm.|HPO|N|
C4476787|Any deviation from the normal range of concentration of a metabolite in the cerebrospinal fluid.|HPO|N|
C4476788|5-HIAA (5-hydroxyindolacetic acid) concentration in the cerebrospinal fluid (CSF) is below the lower limit of normal.|HPO|N|
C4476789|Any deviation from the normal range of a protein concentration in the cerebrospinal fluid.|HPO|N|
C4476790|CSF total protein level is below the lower limit of normal.|HPO|N|
C4476791|An increase above normal limits of the ratio of the cerebrospinal fluid (CSF) albumin concentration to serum albumin concentration.|HPO|N|
C4476792|An elevated level of myoinositol in the brain identified by magnetic resonance spectroscopy (MRS).|HPO|N|
C4476793|Any anomaly of cell structure.|HPO|N|
C4476795|An abnormality of the processes that maintain the redox environment of a cell or compartment within a cell, that is, the balance between reduction and oxidation chemical reactions.|HPO|N|
C4476796|An accumulation of free radical groups in the body inadequately neutralized by antioxidants, which creates a potentially unstable and damaging cellular environment linked to tissue damage.|HPO|N|
C4476797|A deviation from the normal concentration of beta globulin. The beta globulins are a group of globular (globe-shaped) proteins in blood.|HPO|N|
C4476798|Increased level of beta 2-microglobulins in the urine.|HPO|N|
C4476799|A hamartomatous proliferation containing malformed hair follicles in various stages of development. Panfolliculomas are well-circumscribed lesions demonstrating all stages of follicular differentiation.|HPO|N|
C4476800|A history of repeated fungal infections located on the sole of the foot, usually manifested by scaling, maceration, and itching.|HPO|N|
C4476803|An abnormal result of the perchlorate discharge test. In this test, first radioactive iodine is administered, sufficient time is allowed to pass so that the radioactive iodine is captured by the thyroid,and then, perchlorate is administered orally. The perchlorate displaces non-organified iodide from the thyroid. The perchlorate discharge test is considered positive (abnormal) if there is an abnormally rapid loss of radioactive iodine from the thyroid.|HPO|N|
C4476804|A deviation from the normal concentration of thyroglobulin, a protein produced in the thyroid gland that acts as a precursor to thyrroid hormones.|HPO|N|
C4476805|An abnormal elevation of the concentration of thyroglobulin, a protein produced in the thyroid gland that acts as a precursor to thyrroid hormones.|HPO|N|
C4476806|The outer labia are sealed together.|HPO|N|
C4476807|Any structural anomaly of the bladder.|HPO|N|
C4476808|A small pupil (typically diameter less than 2 mm) that dilates poorly or not at all in response to topically administered mydriatic drugs.|HPO|N|
C4476809|Redness of the skin of the palm of the hand and the sole of the foot caused by hyperemia of the capillaries in the lower layers of the skin.|HPO|N|
C4476810|Regular circumferential periaortic fibrosis involving the whole aorta and leading to a coated aorta appearance on computed tomography scans|HPO|N|
C4476811|Significant luminal narrowing of a long segment of the descending aorta.|HPO|N|
C4476812|Any anomaly of the function of a coronary artery.|HPO|N|
C4476813|Obesity with a body mass index of 30 to 34.9 kg per square meter.|HPO|N|
C4476814|Origin of the right coronary artery (RCA) from the left sinus of Valsalva or of the left main (LM) or left anterior descending (LAD) coronary artery from the right sinus of Valsalva.|HPO|N|
C4476815|The circumflex coronary artery originates from the right aortic sinus of Valsalva.|HPO|N|
C4476816|Origin of the right coronary artery (RCA) from the left sinus of Valsalva or of the left main (LM) or left anterior descending (LAD) coronary artery from the right sinus of Valsalva, with the additional feature that the artery passes between the two great arteries. This carries a risk of the artery being compressed by these two vessels,|HPO|N|
C4476818|A solitary yellow-orange slightly raised plaque typically on scalp or face. The plaque typically thickens and becomes more verrucous or pebbly during childhood.|HPO|N|
C4476819|A papule with the same color as the surrounding skin.|HPO|N|
C4476820|Later than normal development of the breasts.|HPO|N|
C4476821|A congenital malformation with abnormal connection between one of the coronary arteries and the pulmonary artery.|HPO|N|
C4476822|Underdevelopment of the hippocampus.|HPO|N|
C4476823|An abnormality of gaze that can be observed following an acute supranuclear cerebral lesion (e.g., stroke) that is characterized by an acute inability to direct gaze contralateral to the side of the lesion and is accompanied by a tendency for tonic deviation of the eyes toward the side of the lesion.|HPO|N|
C4476824|The percentage of fat as a part of total body weight above the norm, usually defined as 32% for females and 25% for males.|HPO|N|
C4476825|Abnormal increased in length of the chordae tendinae of the mitral valve.|HPO|N|
C4476826|A structural anomaly of the chordae tendinae of the mitral valve, whose main function is to transmit the contraction and relaxation of the papillary muscles during the cardiac cycle, thus ensuring the closing of the leaflets of the mitral valve.|HPO|N|
C4476827|Loss of the outer layer of the epidermis in large, scale-like flakes localized to the palm of the hand and the sole of the foot.|HPO|N|
C4476829|Loss of the outer layer of the epidermis in large, scale-like flakes localized to one or more fingertips.|HPO|N|
C4476830|A skin lesions that resembles the lesions observed in psoriasis, viz., an erythematous plaque covered by fine silvery scales. Psoriasiform lesions can be observed in psoriasis as well as in other conditions including allergic contact dermatitis, seborrhoeic dermatitis, Atopic dermatitis, pityriasis rubra, and lichen simplex chronicus.|HPO|N|
C4476832|A skin lesion with a snake- or serpent-like distribution.|HPO|N|
C4476833|A lesion of the skin with a ring-like distribution.|HPO|N|
C4476834|The presence of multiple xanthomas (xanthomata) in the skin distributed in the creases of the palm of the hand. Xanthomas are yellowish, firm, lipid-laden nodules in the skin.|HPO|N|
C4476835|The Harlequin phenomenon consists of a sudden change in skin color, resulting in two different body colors, one on each half of the body.|HPO|N|
C4476836|With the pathergy test, a small, sterile needle is inserted into the skin of the forearm. The site of injectionis circuled and observed after one and two days. If a small red bump or pustule at the site of needle insertion occurs, the pathergy test is considered to have a positive (abnormal) result.|HPO|N|
C4476837|Erythematous, poikilodermatous macules distributed in a shawl pattern over the shoulders, arms and upper back.|HPO|N|
C4476838|Erythematous, poikilodermatous macules distributed in a V-shaped distribution over the anterior neck and chest.|HPO|N|
C4476840|Any abnormality in the proportion T cells subsets relative to the total number of T cells.|HPO|N|
C4476864|A structural anomaly of the nonstriated, involuntary muscle tissue of the intestine.|HPO|N|
C4476865|Abnormal layering of the intestinal muscularis propria into three layers; (1) inner circular; (2) additional oblique; and (3) outer longitudinal layer.|HPO|N|
C4476866|The presence of excessive fibrous connective tissue in the muscularis propria of the intestine. Fibrosis is a reparative or reactive process.|HPO|N|
C4476867|Aggregates of stainable substances (proteins) in the nuclei of enteric neurons.|HPO|N|
C4476868|An increased thickness of the eyelid not related to acute inflammation.|HPO|N|
C4476869|Increased level of the enzyme gamma-glutamyltransferase (GGT). GGT is mainly present in kidney, liver, and pancreatic cells, but small amounts are present in other tissues.|HPO|N|
C4476870|An abnormal accumulation of protein in the glomerulus.|HPO|N|
C4476872|An anomaly of the electrical conduction physiology of the heart.|HPO|N|
C4476874|Bowing (bulging out) of the membranous part of the interventricular septum of more than 10-15 mm into the cavity of an adjacent ventricle (usually into the right ventricle).|HPO|N|
C4476876|Bowing (bulging out) of the muscular part of the interventricular septum of more than 10-15 mm into the cavity of an adjacent ventricle (usually into the right ventricle).|HPO|N|
C4476878|A structural anomaly affecting a blood vessel involved in the circulation of the heart, i.e., the superior or inferior vena cava, the pulmonary arteries, the pulmonary veins, and the aorta.|HPO|N|
C4476881|An abnormality of the structure of the pulmonary artery.|HPO|N|
C4476882|An abnormality of the function of the pulmonary artery.|HPO|N|
C4476883|An abnormality of the structure of the pulmonary veins.|HPO|N|
C4476884|An abnormality of the function of the pulmonary veins.|HPO|N|
C4476885|An abnormality of the function of the veins that return deoxygenated blood from the body into the heart, i.e., the superior vena cava and the inferior vena cava.|HPO|N|
C4476886|An abnormality of the structure of the veins that return deoxygenated blood from the body into the heart, i.e., the superior vena cava and the inferior vena cava.|HPO|N|
C4476887|A chronic deviation from normal pressure in the systemic arterial system.|HPO|N|
C4476888|An abnormal curved or vaulted (capped) structure covering the middle third of the dorsal pontine tegmentum and projecting into the fourth ventricle.|HPO|N|
C4476889|A deviation from the normal activity of coagulation factor VIII. Factor VIII (fVIII) is a cofactor in the intrinsic clotting cascade that is activated to fVIIIa in the presence of minute quantities of thrombin. fVIIIa acts as a receptor, for factors IXa and X.|HPO|N|
C4476890|Increased activity of the coagulation factor VIII. Factor VIII (fVIII) is a cofactor in the intrinsic clotting cascade that is activated to fVIIIa in the presence of minute quantities of thrombin. fVIIIa acts as a receptor, for factors IXa and X.|HPO|N|
C4476891|A reduction below normal limits of the ratio of the cerebrospinal fluid (CSF) albumin concentration to serum albumin concentration.|HPO|N|
C4476892|Enlargement of the large blood vessels in the choroid.|HPO|N|
C4476893|An decrease in the level of glutamine in the brain identified by magnetic resonance spectroscopy (MRS).|HPO|N|
C4476894|A deviation from the normal range of the ratio of the albumin concentration in the cerebrospinal fluid (CSF) to the concentration in serum (which may be defined as 3.2-9.0). This is an index of blood-brain barrier (BBB) integrity, adjusted for the serum albumin concentration, and an increased ratio is taken as a sign of a loss of integrity of the BBB with leakage of albumin into the CSF.|HPO|N|
C4476896|Hyperplasia of lining epithelia of the septal and large bile ducts manifesting as micropapillary projections or as a stratification of the epithelium with or without dilatation of the duct lumen.|HPO|N|
C4476897|Cholangitis characterized by the accumulation of granulomas. Granulomas are aggregates of modified macrophages (epithelioid cells) and other inflammatory cells that accumulate after chronic exposure to antigens. The underlying trigger may be exposure to noxious agents that cannot be biochemically degraded or to immune dysfunction. The ultimate result is a release of a variety cytokines that stimulate mononuclear cells that fuse to form multinucleated giant cells with a surrounding rim of lymphocytes and fibroblasts.|HPO|N|
C4476898|Cholangitis characterized by a close association between duct branches, usually interlobular bile ducts, and lymphocytic aggregates, which may show a follicular arrangement.|HPO|N|
C4476899|Cholangitis associated with mixed inflammatory infiltrates and the presence of fibrosis or sclerosis of the biliary tree.|HPO|N|
C4476900|Any structural anomaly of the pancreatic duct, which is the tubular structure that collects exocrine pancreatic secretions and transports them to the duodenum.|HPO|N|
C4476901|A congenital anomaly characterized by the presence of two separate pancreatic ducts.|HPO|N|
C4476902|Any structural anomaly of the saccule of the vestibule. The saccule is the otolith organ that senses motions in the sagittal plane (i.e., up-down movement).|HPO|N|
C4476903|Deterioration or loss of the tissues of the saccule of the vestibule.|HPO|N|
C4476904|A nerve fascicle or fasciculus is a small bundle of axons, enclosed by the perineurium. A minifascule refers to a group of thinly myelinated and unmyelinated axons surrounded by a delicate perineurium, and with a smaller diameter than a normal nerve fascicle.|HPO|N|
C4476905|Areflexia that is limited to one side of the body.|HPO|N|
C4476908|An accessory phalanx of the third (middle) finger that is arranged linearly with the other phalanges. Hyperphalangy results from an accessory ossification center at the metacarpophalangeal joint.|HPO|N|
C4476910|Thin-cap fibroatheroma is characterized by a relatively large necrotic core with an overlying thin fibrous cap measuring less than 65 micrometers and typically containing numerous macrophages, and is considered to be the precursor lesion of plaque rupture which is the most common cause of coronary thrombosis.|HPO|N|
C4476911|Sclerosis of the intrahepatic portal veins of the liver and generally accompanied by non-cirrhotic portal hypertension, features of which may include splenomegaly and varices.|HPO|N|
C4476913|Areas of radio-opaque sclerotic bands alternating with those of normal lucency give rise to stripes akin to a zebra.|HPO|N|
C4476915|Multiple defects in the atrial septum.|HPO|N|
C4476916|Nuclear lobes of neutrophils in the bone marrow are thickened and condensed, and individual lobes are connected by unusually long chromatin filaments.|HPO|N|
C4476917|Concentration of the carcinoembryonic antigen (CEA) in the blood circulation above the upper limit of normal. CEA is a member of the immunoglobulin supergene family. The human CEA gene family is clustered on chromosome 19q and comprises 29 genes. CEA is highly expressed in embryonic tissue and in some cancers, and is a widely used tumor marker.|HPO|N|
C4476918|An increased blood concentration of carcinoma antigen 125 (CA-125). CA-125, also known as mucin 16, can exhibit increased blood levels in certain types of cancer.|HPO|N|
C4476919|A deviation from normal blood concentration of retinol-binding protein (RBP). The most commonly used indicator of vitamin A status is the serum retinol concentration (retinol is one of the several compounds known as vitamin A). The serum RBP concentration is used as a surrogate measure for serum retinol.|HPO|N|
C4476920|A reduced blood concentration of retinol-binding protein. This finding predicts vitamin A deficiency with high sensitivity and specificity.|HPO|N|
C4476921|The kidney contributes towards acid-base homeostasis by excreting H+ ions and retaining bicarbonate. This process is known as acidification of the urine. The pH of urine ranges normally from 4.5 to 8. The inability to reduce the pH of the urine in a situation where it would be otherwise expected is known as an acidification defect.|HPO|N|
C4476922|A deviation from the normal blood concentration of the insulin like growth factor binding protein acid labile subunit (IGFALS; Entrez Gene ID 3483). The acid-labile subunit (IGFALS) acts in the insulin-like growth (IGF) system by binding circulating IGF1 in a ternary complex with binding protein (IGFBP)-3 to prevent IGF1 from crossing the endothelial barrier.|HPO|N|
C4476923|A decreased blood concentration of growth hormone binding protein.|HPO|N|
C4476924|Blood concentration of insulin-like factor 3 (ILF3) is below normal limits.|HPO|N|
C4476925|A type of spermatogenesis maturation arrest in which the block of developmental occurs in the spermatocyte stage. Testicular histology shows seminiferous tubules with Sertoli cells, spermatogonial cells and spermatocytes but no further differentiated cells like round spermatids.|HPO|N|
C4476926|A failure of spermatogenesis to progress beyond the round spermatid stage. The round spermatid is the first haploid cells produced during spermatogenesis and normally further develop into mature spermatozoa. This abnormality can be visualized with testicular biopsy and is characterized seminiferous tubules with increased numbers of round spermatids with few or no mature spermatozoa.|HPO|N|
C4476927|Bullae (defined as fluid-filled blisters more than 5 mm in diameter with thin walls) of the skin with an acral distribution (affecting peripheral regions such as hands and feet).|HPO|N|
C4476928|A developmental defect characterized by lack of a soft palate.|HPO|N|
C4476929|An abnormal immunoglobulin light chain in the circulation and typically produced by a clonal population of B-cell derived plasma cells.|HPO|N|
C4476930|An abnormal immunoglobulin heavy chain in the circulation and typically produced by a clonal population of B-cell derived plasma cells.|HPO|N|
C4476931|An abnormal immunoglobulin (heavy and light chain) in the circulation and typically produced by a clonal population of B-cell derived plasma cells.|HPO|N|
C4476932|An elevation in bone density in one or more tarsal bones of the foot. Sclerosis is normally detected on a radiograph as an area of increased opacity.|HPO|N|
C4476933|Increased blood concentration of vascular endothelial growth factor (VEGF).|HPO|N|
C4476934|Narrowing or constriction of the aorta localized to the region of the transverse aortic arch.|HPO|N|
C4476935|Coarctation of the aorta is a narrowing or constriction of a long segment of the arch of the aorta.|HPO|N|
C4476936|A deviance from the norm of the origin or course of the right brachiocephalic artery, the left common carotid artery, the left subclavian artery or the proximal vertebral arteries, whereby the aortic arch descends on the left as normal (as opposed to right aortic arch).|HPO|N|
C4476937|A localized circumferential (i.e., bulges on all sides) dilatation or ballooning of a cerebral artery.|HPO|N|
C4476938|Difficulty in performing one or more activities normally performed every day, such as eating, bathing, dressing, grooming, work, homemaking, and leisure.|HPO|N|
C4476939|This term applies to an individual who requires help to bathe more than one part of the body, get in or out of the tub or shower, or who requires total bathing.|HPO|N|
C4476940|This applies to an individual who needs help with dressing or needs to be completely dressed.|HPO|N|
C4476941|This term applies to an individual who requires help transferring to the toilet, cleaning self or who uses bedpan or commode.|HPO|N|
C4476942|Applies to an individual who needs partial or total help with feeding or requires parenteral feeding.|HPO|N|
C4476943|Partial or total incontinence of bowel or bladder.|HPO|N|
C4476945|Any anomaly of ovarian function.|HPO|N|
C4476946|A failure to collect oocytes after an apparently normal controlled ovarian hyperstimulation cycle for in vitro fertilization.|HPO|N|
C4476948|Femoral torsion, also known as femoral rotation or femoral version, refers to the twist between the proximal and distal parts of the femur on the transverse plane. Femoral anteversion averages between 30-40 degress at birth, and between 8-14 degrees in adults. This term applies if the amount of femoral torsion deviates from this range.|HPO|N|
C4476950|Any anomaly of the structure of an organ ofthe endocrine system.|HPO|N|
C4476951|Any anomaly of the function of the endocrine system.|HPO|N|
C4476952|An anomalous response to a test that is designed to probe the function of the endocrine system.|HPO|N|
C4476953|An anomolous response to stimulation by adminstration of the adrenocorticotropic hormone (ACTH). ACTH stimulation normally stimulates the adrenal glands to release cortisol and adrenaline.|HPO|N|
C4476954|An anomalous response to the insulin tolerance test (ITT), in which insulin is administered intravenously and blood glucose and potentially other compounds are measured at intervals. Insulin administration is intended to induce extreme hypoglycemia (bloodgluoce below 40 mg/dl), which in turn induces release of adrenocorticotropic hormone (ACTH) and growth hormone (GH). ACTH induces the adrenal gland to release cortisol, which together with GH opposes the action of insulin on the blood glucose level.|HPO|N|
C4476955|Failure of cortisol levels to respond adequately (by increasing) to the insulin tolerance test (ITT).|HPO|N|
C4476956|An anomalous response to the corticotropin releasing hormone (CRH) stimulation test. Normally,CRH is released by the hypothalamus to induce adrenocorticotropic hormone (ACTH) release by the anterior pituitary. In the stimulation test, CRH is administered intravenously and ACTH and cortisol are measured at intervals.|HPO|N|
C4476957|Failure of cortisol levels to respond adequately (by increasing) to the corticotropin releasing hormone stimulation test.|HPO|N|
C4476958|Failure of growth hormone levels to respond adequately (by increasing) to the insulin tolerance test (ITT).|HPO|N|
C4476959|An anomalous response to the glucagon stimulation test, which like the insulin tolerance test (ITT) stimulates the release of both adrenocorticotropic hormone (ACTH) and growth hormone (GH).|HPO|N|
C4476960|Failure of cortisol levels to respond adequately (by increasing) to the glucagon stimulation test.|HPO|N|
C4476961|Failure of growth hormone levels to respond adequately (by increasing) to the glucagon stimulation test.|HPO|N|
C4476962|An anomalous response to intravenous stimulation by human chorionic gonadotrophin. Stimulation with hCG stimulates testicular Leydig cells to secrete androgens via the Leydig hormone receptors.|HPO|N|
C4476963|An abnormally high increase in insulin levels following a glucagon stimulation test.|HPO|N|
C4476964|Concentration of prealbumin in the blood circulation below the lower limit of normal. Prealbumin, also known as transthyretin, has a half-life in plasma of about 2 days, much shorter than that of albumin. Prealbumin is therefore more sensitive to changes in protein-energy status than albumin, and its concentration closely reflects recent dietary intake rather than overall nutritional status.|HPO|N|
C4476965|The abrupt and transient increase in the annual growth rate normally observed in adolescent individuals does not occur.|HPO|N|
C4476966|Any anomaly of the structure of the humerus.|HPO|N|
C4476967|A decrease in the amount of mineralized bone in one or more vertebrae compared with that expected for a given developmental age.|HPO|N|
C4476968|Any deviation from the normal amount of the thyroid-stimulating hormone (TSH), which is produced by the anterior pituitary gland and stimulates the function of the thyroid gland.|HPO|N|
C4476969|The concentration of inhibin B in the blood circulation is below the lower limit of normal.|HPO|N|
C4476970|Any deviation from the normal range of the antimullerian hormone, a peptide produced by the granulosa cells of follicles. Anti-Mullerian hormone (AMH), also known as Mullerian inhibiting substance, is produced by the granulosa cells of small antral follicles of the ovary. AMH has an inhibiting role in the ovary, contributing to follicular arrest. AMH levels in women are low until the age of 8, rise rapidly until puberty and decline steadily from the age of 25 until menopause, when AMH production ceases.|HPO|N|
C4476971|An elevation above the normal range of the antimullerian hormone in the circulation.|HPO|N|
C4476972|A reduction below the normal range of the antimullerian hormone in the circulation.|HPO|N|
C4476973|The presence of autoantibodies (immunoglobulins) in the serum that react against the insulin receptor.|HPO|N|
C4476974|Any anomaly of the structure of the uterus|HPO|N|
C4476975|An abnormality of the uterus characterized by a normal uterine outline but with an abnormal T-shaped uterine cavity with narrowing cavity due to thickened lateral walls with a correlation 2/3 uterine corpus and 1/3 cervix. The abnormlaity is said to resemble the letter T in hysterosalpingographic imaging.|HPO|N|
C4476976|Reduced width of the cross sectional diameter of the fibula.|HPO|N|
C4476977|A type of bicuspid aortic valve (BAV) characterized by two equal-sized cusps, with no raphe and only two commissures. There is a lateral arrangement of the free edge of the cusps. Note that this differs from some other forms of BAV in which there are three commissures and two of the three cusps are joined by a raphe forming two functional leaflets. This type of BAV often is associated with aortic stenosis.|HPO|N|
C4476978|A type of bicuspid aortic valvue (BAV) characterized by the presence of a single raphe that extends from the commissure to the free edge of the two underdeveloped, conjoint cusps, resulting in two leaflets of unequal size.|HPO|N|
C4476979|A type of bicuspid aortic valve (BAV) characterized by a single raphe between the right and left cusps (RL fusion pattern). This results in two leaflefts with an anterior-posterior leaflet orientation (also called the typical pattern). There is thus one completely developed noncoronary cusp, two completely developed commissures, and one raphe between the underdeveloped left and right coronary cusps extending to the corresponding malformed commissure.|HPO|N|
C4476980|A type of bicuspid aortic valve (BAV) characterized by a single raphe between the right and noncoronary cusps (RN fusion pattern). This results in two leaflets with right-left leaflet orientation (also called the atypical pattern). There is thus one completely developed left cusp, two completely developed commissures, and one raphe between the underdeveloped right and noncoronary coronary cusps extending to the corresponding malformed commissure.|HPO|N|
C4476981|A type of bicuspid aortic valve (BAV) characterized by a single raphe between the left and noncoronary cusps (LN fusion pattern). There is thus one completely developed right cusp, two completely developed commissures, and one raphe between the underdeveloped left and noncoronary coronary cusps extending to the corresponding malformed commissure.|HPO|N|
C4476982|A type of bicuspid aortic valvue (BAV) characterized by the presence of two raphes that each extend from the commissure to the free edge of the two underdeveloped, conjoint cusps. This type of BAV has developmental anlagen of three cusps, commissures, and sinuses, but two commissures are more or less malformed and obliterated, giving rise to a raphe, a fibrous ridge, which extends from the commissure to the free edge of the two underdeveloped, conjoint cusps. This type of BAV is typically associated with a high degree of aortic stenosis.|HPO|N|
C4476983|Decreased cell membrane concentration of thromboxane A2 receptor that is stimulated by thromboxane A2 (TBXA2).|HPO|N|
C4476984|Decreased cell membrane concentration of alpha-2A adrenergic receptor that is stimulated by epinephrine.|HPO|N|
C4476985|Platelets contain contractile proteins (actin and myosin) that induce clot retraction. As the platelets contract, they pull on the surrounding fibrin strands, squeezing serum form the mass, compacting the clot and drawing the ruptured edges of the blood vessel more closely together. Clot retraction is directly proportional to the platelet count and inversely proportional to the fibrinogen concentration.|HPO|N|
C4476986|Abnormal response to convulxin as manifested by reduced or lacking aggregation of platelets upon addition of convulxin.|HPO|N|
C4476987|Abnormal response to collagen-related peptide (CRP) as manifested by reduced or lacking aggregation of platelets upon addition of CRP.|HPO|N|
C4476988|Abnormal response to phorbol myristate acetate (PMA) as manifested by reduced or lacking aggregation of platelets upon addition of PMA.|HPO|N|
C4476989|Abnormal response to calcium Ionophore (such as A23187) as manifested by reduced or lacking aggregation of platelets upon addition of the ionophore.|HPO|N|
C4476990|An abnormality of phosphatidylserine (PS) on activated platelets. PS is normally located on the cytoplasmic face of the resting platelet membrane but appears on the plasma-oriented surface of discrete membrane vesicles that derive from activated platelets. Thrombin, the central molecule of coagulation, is produced from prothrombin by a complex (prothrombinase) between factor Xa and its protein cofactor (factor V(a)) that forms on platelet-derived membranes. This complex enhances the rate of activation of prothrombin to thrombin by roughly 150,000 fold relative to factor X(a) in solution. The negatively charged surface of PS-containing platelet-derived membranes is at least partly responsible for this rate enhancement.|HPO|N|
C4476991|Reduced binding of annexin V to platelet membrane, which is mediated by exposed phosphatidylserine. This can be measured by flow cytometry.|HPO|N|
C4476992|Elevated binding of annexin V to platelet membrane, which is mediated by exposed phosphatidylserine. This can be measured by flow cytometry.|HPO|N|
C4476993|A developmental anomaly of the heart characterized by the presence of three atria because the left atrium is divided by an abnormal septum.|HPO|N|
C4476995|A reduced amount of the enzyme acrosin in the sperm head acrosome. The acrosome is an organelle in the anterior half of the head of spermatozoa, and acrosin is a protease that contributes to the digestation of the zona pellucida in the fertilization process.|HPO|N|
C4476996|Hepatocytes (liver parenchymal cells) exhibit a bloated appearance because of expansion of the cytoplasm by accumulated material.|HPO|N|
C4476997|A deviation from the normal circulating concentration of B-type natriuretic peptide (BNP).|HPO|N|
C4476998|A type of rest posture in an infant that indicated a generalized reduction in muscle tone. The hips are flexed and the legs are abducted to an extent that causes the lateral thigh to rest upon the supporting surface. This posture is said to resemble the legs of a frog.|HPO|N|
C4476999|An abnormal appearance of the liver or any of its components on sonography (ultrasound).|HPO|N|
C4477000|Increased echogenicity of liver tissue on sonography, manifested as an increased amount of white on the screen of the sonography device.|HPO|N|
C4477001|Any deviation from the normal degree of echogenicity of the liver on sonography. Echogenicity refers to the ability of a tissue to reflect or transmit ultrasound waves in the context of surrounding tissues. Whenever there is an interface of structures with different echogenicities, a visible difference in contrast will be apparent on the screen. Based on echogenicity, a structure can be characterized as hyperechoic (white on the screen), hypoechoic (gray on the screen) and anechoic (black on the screen).|HPO|N|
C4477002|Reduced echogenicity of liver tissue on sonography, manifested as an increased amount of black on the screen of the sonography device.|HPO|N|
C4477003|The appearance of the liver in sonographic images is normally uniform. This term applies when there is an irregular or non-uniform appearance of the liver parenchyma in liver sonography.|HPO|N|
C4477004|An abnormal echotexture visible in liver ultrasound manifesting as a diffuse hyperechoic liver echotexture with multiple, small hypoechoic lesions. The appearance is said to resemble a starry sky (multiple white spots on a dark background).|HPO|N|
C4477005|An abnormality of swallowing characterized by reduced tongue coordination to form bolus after chewing. Food material spreads over the oral cavity instead of being concentrated into a bolus that is easily swallowed.|HPO|N|
C4477006|Vitreous humor of the eye displaying consisting of a vestigial gel in the retrolental space bounded by a convoluted membrane.|HPO|N|
C4477007|Vitreous humor of the eye displaying beaded bundles of irregular diameters.|HPO|N|
C4477008|An abnormal increase in the Arden ratio, which is the ratio between the light peak and the dark trough of the smoothed (physiologic) EOG record.|HPO|N|
C4477009|Decreased platelet cell membrane concentration of glycoprotein Ib.|HPO|N|
C4477010|An atrophic scar (fibrous connective tissue resulting from incomplete healing of a wound) that has stretched (gotten wider), a manifestation of tissue fragility.|HPO|N|
C4477011|A reduction in the thickness of Descemet's membrane.|HPO|N|
C4477012|An decrease in the level of glutamate (Glu) in the brain identified by magnetic resonance spectroscopy (MRS).|HPO|N|
C4477013|Delay or absence of the swallow response, reflexes triggered by the contact the food bolus makes with the anterior faucial pillars.|HPO|N|
C4477014|Reduced bone mineral density of the femur.|HPO|N|
C4477016|A pregnancy that extends to 42 weeks of gestation or beyond.|HPO|N|
C4477017|A bony projection (spur, osteophyte) originating from the femur, often in the medial femoral neck.|HPO|N|
C4477018|A variant of retinitis pigmentosa in which there is a regional distribution of the retinal degeneration.|HPO|N|
C4477019|A bony projection (spur, osteophyte) originating from the tibia.|HPO|N|
C4477020|A developmental defect characterized by agenesis of one or more vertebral bodies of the cervical spine.|HPO|N|
C4477021|A developmental defect characterized by agenesis of one or more vertebral bodies of the thoracic spine.|HPO|N|
C4477022|Reduced ability to flex (bend) the fingers. This can manifest as incomplete closure of the hand due to weakness in finger flexion.|HPO|N|
C4477023|Head is bent in the posterior direction in a permanent fashion.|HPO|N|
C4477024|An elevated level of circulating N-terminal part of the prohormone of B-type natriuretic peptide (BNP).|HPO|N|
C4477025|An abnormality of the concentration of deoxycorticosterone in the blood. Deoxycorticosterone comprises 11-deoxycorticosterone and 21-deoxycorticosterone.|HPO|N|
C4477026|An abnormality of the concentration of pregnenolone in the blood.|HPO|N|
C4477028|Always present, i.e. in 100% of the cases.|HPO|N|
C4477029|Present in 80% to 99% of the cases.|HPO|N|
C4477030|A structural anomaly of the muscles of the trunk and head.|HPO|N|
C4477036|Anomalous anatomical placement of the eyebrow.|HPO|N|
C4477038|Any deviation from the normal concentration of a free fatty acid in the blood circulation.|HPO|N|
C4477041|Increased desire for sexual activity on the part of a male.|HPO|N|
C4477042|Reduced desire for sexual activity on the part of a male.|HPO|N|
C4477043|Inability of a male to reach orgasm.|HPO|N|
C4477044|An inflammatory arthritis characterized by purulent synovial fluid with neutrophil accumulation, but with negative cultures.|HPO|N|
C4477046|An abnormal red-brown color of the urine.|HPO|N|
C4477047|An abnormal purple color of the urine.|HPO|N|
C4477048|In a heliotrope rash, the color of the skin turns to violet, which is the color of the heliotrope flower.|HPO|N|
C4477049|Underdevelopment of the olfactory bulb.|HPO|N|
C4477050|An abnormal morphology of the olfactory bulb (bulbus olfactorius), which is involved in olfaction, i.e. the sense of smell.|HPO|N|
C4477051|Concentration of lactate dehydrogenase in the blood circulation below the lower limit of normal.|HPO|N|
C4477052|Irregularity of the normally smooth surface of the distal metaphysis of the femur.|HPO|N|
C4477053|Any abnormality in the proportion of CD3-positive T cells relative to the total number of T cells.|HPO|N|
C4477059|Abnormal outpouching or sac-like dilatation in the wall of the celiac artery.|HPO|N|
C4477060|Abnormal outpouching or sac-like dilatation in the wall of the superior mesenteric artery .|HPO|N|
C4477061|Abnormal outpouching or sac-like dilatation in the wall of the inferior mesenteric artery .|HPO|N|
C4477064|Body odor characterized by an offensive body odor and the smell of rotting fish due to the excessive excretion of trimethylamine (TMA) in the urine, sweat, and breath of affected individuals.|HPO|N|
C4477065|Pungent body odor.|HPO|N|
C4477066|A fish odor in the vaginal area, that is characteristic of bacterial vaginosis (BV), and is due to trimethylamine (TMA).|HPO|N|
C4477067|An anomalous amount or location of cell junction proteins such as plakoglobin or Cx43.|HPO|N|
C4477068|Any abnormality of the periodontium.|HPO|N|
C4477069|Soft and hard-palate submucous clefts are characterized by bony defects in the midline of the soft and hard palate that are covered by the lining (ie mucous membrane) of the roof of the mouth.|HPO|N|
C4477070|One sided alveolar cleft of the maxilla.|HPO|N|
C4477071|Nonmidline alveolar cleft of the maxilla.|HPO|N|
C4477072|Multiple cysts along the pupillary margin that appear as spherical or tear-drop-shaped pigmented lesions or wrinkled masses emerging from the pupillary border of the iris.|HPO|N|
C4477073|A deviation from the normal circulating concentration of the normal gonadotropin-releasing hormone (GnRH). Intermittent GnRH secretion from the hypothalamus acts upon its receptor in the anterior pituitary to regulate the production and release of the gonadotropins, follicle-stimulating hormone (FSH) and luteinizing hormone (LH).|HPO|N|
C4477074|Secretion of gonadotropin-releasing hormone that does not occur in a pulsatile fashion.|HPO|N|
C4477075|Abnormal test result of cardiovascular physiology.|HPO|N|
C4477076|Abnormal results of a MRI for the heart.|HPO|N|
C4477077|Abnormal results of exercise on heart function.|HPO|N|
C4477078|Resting energy expenditure (REE) can be measured with indirect calorimetry using a metabolic cart, which is used to measure the oxygen consumption (VO2) and carbon dioxide production (VCO2).|HPO|N|
C4477079|Abnormal blood test results measuring creatine kinase (CK), CK-MB, troponin (TROPI), myoglobin, and/or cardiac enzymes.|HPO|N|
C4477080|An decreased level of gamma-aminobutyric acid in the brain identified by magnetic resonance spectroscopy (MRS).|HPO|N|
C4477081|A deviation from the normal concentration of dehydroepiandrosterone in the circulation.|HPO|N|
C4477082|Absence of shoulder muscles.|HPO|N|
C4477083|Absence of the musculature of the pelvis.|HPO|N|
C4477084|Underdevelopment of the musculature of the pelvis.|HPO|N|
C4477085|Congenital absence of the colon|HPO|N|
C4477086|Deposition of large, diffuse cotton wool amyloid plaques (CWPs) lacking a dense core and associated neuritic changes.|HPO|N|
C4477087|Change in normal glycogen storage content.|HPO|N|
C4477088|An elevation in bone density in one or more carpal bones of the hand.|HPO|N|
C4477089|Abnormality of the structure and branching of the dendrites of a neuron.|HPO|N|
C4477091|Presence of a monoclonal immunoglobulin M protein in the serum.|HPO|N|
C4477092|An increased amount of desmosine measure in the skin. Desmosine is a cross-linking amino acid formed from lysyl residues in elastin.|HPO|N|
C4477093|Angioma serpiginosum consists of punctate, tightly packed telangiectatic lesions. Characteristic histopathological features are dilated and tortuous capillaries involving the uppermost part of the dermis.|HPO|N|
C4477094|Any anomaly in the process of ocular fixation, which is the maintaining of the visual gaze on a single location.|HPO|N|
C4477095|An elevated level of the enzyme lactate dehydrogenase in the blood circulation.|HPO|N|
C4477096|Multiple foci of adipocytes within the testicular interstitium, usually presenting as multiple bilateral ill-defined hyperechoic intratesticular lesions of different sizes but generally with maximum diameter of 4 mm.|HPO|N|
C4477098|An abnormal increase in pressure in the pulmonary veins, usually as a result of left atrial hypertension.|HPO|N|
C4477099|A deviation from the normal concentration of serum bile acid concentration.|HPO|N|
C4477100|Maturation arrest (MA) is defined as germ cells that fail to complete maturation. Uniform MA is characterized by spermatogenic arrest at the same stage of spermatogenesis throughout the seminiferous tubules. MA is subcategorized into early MA, in which only spermatogonia or spermatocytes are found, and late MA, in which spermatids are detected without spermatozoa.|HPO|N|
C4477101|Any deviation from the normal concentration of inhibins, which are heterodimeric protein hormones secreted by granulosa cells of the ovary in females and Sertoli cells of the testis in males. Inhibins suppress the secretion of pituitary follicle-stimulating hormone.|HPO|N|
C4477102|Fetal masculinization of female external genitalia.|HPO|N|
C4477103|An abnormal blue color of the urine.|HPO|N|
C4478372|CILD36 is an X-linked recessive disorder characterized by chronic airway disease and recurrent sinopulmonary infections beginning in childhood and caused by defective ciliary function. Affected individuals also have infertility due to defective sperm flagella. About half of patients have laterality defects due to ciliary dysfunction at the embryonic node (summary by Paff et al., 2017).
For a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400).|OMIM|N|
C4478700|A subtype of focal cortical dysplasia type II that is characterized by dysmorphic neurons, which present with a significantly enlarged cell body and nucleus, malorientation, abnormally distributed intracellular Nissl substance and cytoplasmic accumulation of neurofilament proteins.|HPO|N|
C4478701|A subtype of focal cortical dysplasia type II that is characterized by dysmorphic neurons (significantly enlarged with accumulation of neurofilament proteins) and balloon cells.|HPO|N|
C4478716|Noonan syndrome-like disorder with loose anagen hair is characterized by facial features similar to those observed in Noonan syndrome (163950), including hypertelorism, ptosis, downslanting palpebral fissures, low-set posteriorly angulated ears, and overfolded pinnae. In addition, patients display short stature, frequently with growth hormone (GH; see 139250) deficiency; cognitive deficits; relative macrocephaly; small posterior fossa resulting in Chiari I malformation; hypernasal voice; cardiac defects, especially dysplasia of the mitral valve and septal defects; and ectodermal abnormalities, in which the most characteristic feature is the hair anomaly, including easily pluckable, sparse, thin, slow-growing hair (summary by Bertola et al., 2017).
Reviews
Komatsuzaki et al. (2010) reviewed the clinical manifestations of patients with Noonan syndrome, Costello syndrome (218040), and cardiofaciocutaneous syndrome (CFC; see 115150) compared to patients with mutations in the SHOC2 gene. They noted that although there is phenotypic overlap among the disorders, loose anagen/easily pluckable hair had not been reported in mutation-positive patients with Noonan, CFC, or Costello syndrome, and appeared to be a distinctive feature of SHOC2 mutation-positive patients.
Genetic Heterogeneity of Noonan Syndrome-Like Disorder with Loose Anagen Hair
NSLH2 (617506) is caused by mutation in the PPP1CB gene (600590) on chromosome 2p23.|OMIM|N|
C4478940|For the purposes of this chapter, NFIA-related disorder is defined as heterozygous inactivation or disruption of only NFIA without involvement of adjacent or surrounding genes. NFIA-related disorder comprises central nervous system abnormalities (most commonly abnormalities of the corpus callosum) with or without urinary tract defects, such as unilateral or bilateral vesicoureteral reflux and hydronephrosis. Additional features include macrocephaly, seizures, developmental delay and/or cognitive impairment, nonspecific dysmorphic features, ventriculomegaly, and hypotonia, which can exacerbate motor delay and feeding issues in infancy. Rarer features may include strabismus, cutis marmorata, or craniosynostosis of the metopic, lambdoid, or sagittal suture.|GeneReviews|N|
C4479059|A rapidly growing neoplasm that arises from the conjunctiva. It is characterized by a proliferation of squamous cells, acanthosis, keratinization, dysplasia, increased mitotic activity, and a central crater filled with keratinocytes. It is considered a variant of well-differentiated squamous cell carcinoma with distinct clinical behavior.|NCI|N|
C4479186|Congenital myopathy-24 (CMYP24) is an autosomal recessive congenital myopathy characterized by onset of slowly progressive muscle weakness in the first decade. Affected individuals present with gait difficulties due to proximal muscle weakness and atrophy mainly affecting the lower limbs and neck. Muscle biopsy shows nemaline bodies. Some patients may have mild cardiac or respiratory involvement, but they do not have respiratory failure (summary by Miyatake et al., 2017).
For a discussion of genetic heterogeneity of congenital myopathy, see 117000.
For a discussion of genetic heterogeneity of nemaline myopathy, see 256030.|OMIM|N|
C4479208|Developmental and epileptic encephalopathy-51 (DEE51) is an autosomal recessive severe neurodevelopmental disorder characterized by onset of intractable seizures and hypotonia in the first days or weeks of life. Affected individuals have severely delayed psychomotor development and may show abnormal movements. Brain imaging shows nonspecific abnormalities, such as cerebral atrophy, cerebellar atrophy, and delayed myelination. Laboratory studies showed increased lactate, suggesting mitochondrial dysfunction (summary by Ait-El-Mkadem et al., 2017).
For a discussion of genetic heterogeneity of DEE, see 308350.|OMIM|N|
C4479220|Dyskeratosis congenita and related telomere biology disorders (DC/TBD) are caused by impaired telomere maintenance resulting in short or very short telomeres. The phenotypic spectrum of telomere biology disorders is broad and includes individuals with classic dyskeratosis congenita (DC) as well as those with very short telomeres and an isolated physical finding. Classic DC is characterized by a triad of dysplastic nails, lacy reticular pigmentation of the upper chest and/or neck, and oral leukoplakia, although this may not be present in all individuals. People with DC/TBD are at increased risk for progressive bone marrow failure (BMF), myelodysplastic syndrome or acute myelogenous leukemia, solid tumors (usually squamous cell carcinoma of the head/neck or anogenital cancer), and pulmonary fibrosis. Other findings can include eye abnormalities (epiphora, blepharitis, sparse eyelashes, ectropion, entropion, trichiasis), taurodontism, liver disease, gastrointestinal telangiectasias, and avascular necrosis of the hips or shoulders. Although most persons with DC/TBD have normal psychomotor development and normal neurologic function, significant developmental delay is present in both forms; additional findings include cerebellar hypoplasia (Hoyeraal Hreidarsson syndrome) and bilateral exudative retinopathy and intracranial calcifications (Revesz syndrome and Coats plus syndrome). Onset and progression of manifestations of DC/TBD vary: at the mild end of the spectrum are those who have only minimal physical findings with normal bone marrow function, and at the severe end are those who have the diagnostic triad and early-onset BMF.|GeneReviews|N|
C4479222|Increase in the amount of apoptosis.|NCI|N|
C4479229|Any familial isolated hyperparathyroidism in which the cause of the disease is a mutation in the GCM2 gene.|MONDO|N|
C4479236|Developmental and epileptic encephalopathy-52 (DEE52) is a severe autosomal recessive seizure disorder characterized by infantile onset of refractory seizures with resultant delayed global neurologic development. Affected individuals have impaired intellectual development and may have other persistent neurologic abnormalities, including axial hypotonia and spasticity; death in childhood may occur (summary by Patino et al., 2009 and Ramadan et al., 2017). Some patients with DEE52 may have a clinical diagnosis of Dravet syndrome (607208), which is characterized by the onset of seizures in the first year or 2 of life after normal early development. Developmental delay, impaired intellectual development, and behavioral abnormalities usually become apparent later between 1 and 4 years of age. Dravet syndrome may also include 'severe myoclonic epilepsy in infancy' (SMEI) (summary by Patino et al., 2009).
For a discussion of genetic heterogeneity of DEE, see 308350.|OMIM|N|
C4479246|CDK13-related disorder, reported in 43 individuals to date, is characterized in all individuals by developmental delay / intellectual disability (DD/ID); nearly all individuals older than age one year display impaired verbal language skills (either absent or restricted speech). Other common findings are recognizable facial features in some individuals, behavioral problems (autism spectrum disorder or autistic traits/stereotypies, attention-deficit/hyperactivity disorder), feeding difficulties in infancy, structural cardiac defects, and seizures.|GeneReviews|N|
C4479250|Congenital heart defects and ectodermal dysplasia (CHDED) is a rare disorder characterized by these cardinal features, with additional variable features of microcephaly, craniofacial or skeletal dysmorphism, feeding difficulties, or hypotonia (Sifrim et al., 2016).|OMIM|N|
C4479260|The autosomal dominant TRPV4 disorders (previously considered to be clinically distinct phenotypes before their molecular basis was discovered) are now grouped into neuromuscular disorders and skeletal dysplasias; however, the overlap within each group is considerable. Affected individuals typically have either neuromuscular or skeletal manifestations alone, and in only rare instances an overlap syndrome has been reported. The three autosomal dominant neuromuscular disorders (mildest to most severe) are: Charcot-Marie-Tooth disease type 2C. Scapuloperoneal spinal muscular atrophy. Congenital distal spinal muscular atrophy. The autosomal dominant neuromuscular disorders are characterized by a congenital-onset, static, or later-onset progressive peripheral neuropathy with variable combinations of laryngeal dysfunction (i.e., vocal fold paresis), respiratory dysfunction, and joint contractures. The six autosomal dominant skeletal dysplasias (mildest to most severe) are: Familial digital arthropathy-brachydactyly. Autosomal dominant brachyolmia. Spondylometaphyseal dysplasia, Kozlowski type. Spondyloepiphyseal dysplasia, Maroteaux type. Parastremmatic dysplasia. Metatropic dysplasia. The skeletal dysplasia is characterized by brachydactyly (in all 6); the five that are more severe have short stature that varies from mild to severe with progressive spinal deformity and involvement of the long bones and pelvis. In the mildest of the autosomal dominant TRPV4 disorders life span is normal; in the most severe it is shortened. Bilateral progressive sensorineural hearing loss (SNHL) can occur with both autosomal dominant neuromuscular disorders and skeletal dysplasias.|GeneReviews|N|
C4479270|Mild non-BH4-deficient hyperphenylalaninemia (HPANBH4) is an autosomal recessive disorder characterized by increased serum phenylalanine (HPA) usually detected by newborn screening and associated with highly variable neurologic defects, including movement abnormalities, such as dystonia, and variably impaired intellectual development. Laboratory analysis shows dopamine and serotonin deficiencies in the cerebrospinal fluid, and normal tetrahydrobiopterin (BH4) metabolism. Evidence suggests that treatment with BH4 and neurotransmitter precursors can lead to clinical improvement or even prevent the neurologic defects if started in infancy (summary by Anikster et al., 2017).
The phenotype is highly variable: some patients may present with later onset of juvenile or young adult nonprogressive dopa-responsive parkinsonism reminiscent of early-onset Parkinson disease (168600). These patients benefit from treatment with L-dopa (summary by Straniero et al., 2017).
In a review of HPA, Blau et al. (2018) noted that molecular screening for DNAJC12 mutations should be mandatory in patients in whom deficiencies of PAH (612349) and BH4 metabolism have been excluded.|OMIM|N|
C4479278|Autoinflammation with arthritis and dyskeratosis (AIADK) is characterized by recurrent fever, widespread skin dyskeratosis, arthritis, elevated biologic markers of inflammation, and mild autoimmunity with a high transitional B-cell level (summary by Grandemange et al., 2016).|OMIM|N|
C4479313|Developmental and epileptic encephalopathy-53 (DEE53) is a severe autosomal recessive neurodegenerative disorder characterized by onset of intractable seizures in infancy. Affected individuals show hypotonia and very poor or absent global development, resulting in severe intellectual disability and spastic quadriplegia. Some patients may die in childhood (summary by Hardies et al., 2016).
For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350.|OMIM|N|
C4479319|HNRNPU-related neurodevelopmental disorder (HNRNPU-NDD) is characterized by developmental delay and intellectual disability – typically moderate to severe – with speech and language delay and/or absent speech. Affected individuals may also display autistic features. There may be feeding difficulties during the neonatal period as well as hypotonia, which often remains lifelong. Dysmorphic features have been described but they are nonspecific. Affected individuals are likely to experience seizures (most commonly tonic-clonic or absence) that may be refractory to treatment. Nonspecific brain MRI findings include ventriculomegaly and thinning of the corpus callosum. Less common findings include cardiac abnormalities, strabismus, undescended testes in males, renal anomalies, and skeletal features, including joint laxity, polydactyly, and scoliosis. Rarely, abnormal breathing patterns, including hyperventilation and apnea, may be present and can lead to sleep disturbance.|GeneReviews|N|
C4479322|Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings. Ectodermal dysplasia-13 of the hair/tooth type is characterized by severe oligodontia accompanied by anomalies of hair and skin (Issa et al., 2016).|OMIM|N|
C4479333|Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination is a syndromic form of severe to profound intellectual disability with onset of delayed psychomotor development and seizures in infancy. Affected children have hypotonia, feeding difficulties resulting in failure to thrive, and inability to speak or walk, and they tend to show repetitive stereotypic behaviors. Brain imaging shows cerebral atrophy and delayed myelination (summary by Schoch et al., 2017).|OMIM|N|
C4479344|Neonatal sclerosing cholangitis (NSC) is a rare autosomal recessive form of severe liver disease with onset in infancy. Affected infants have jaundice, cholestasis, acholic stools, and progressive liver dysfunction resulting in fibrosis and cirrhosis; most require liver transplantation in the first few decades of life. Cholangiography shows patent biliary ducts, but there are bile duct irregularities (summary by Girard et al., 2016; Grammatikopoulos et al., 2016).|OMIM|N|
C4479353|A rare congenital disorder of glycosylation caused by mutations in the COG2 gene and with characteristics of normal presentation at birth, followed by progressive deterioration with postnatal microcephaly, developmental delay, intellectual disability, seizures, spastic quadriplegia, liver dysfunction, hypocupremia and hypoceruloplasminemia in the first year of life. Diffuse cerebral atrophy and thin corpus callosum may be observed on brain MRI.|SNOMEDCT_US|N|
C4479357|Anauxetic dysplasia is a spondyloepimetaphyseal dysplasia characterized by severe short stature of prenatal onset, very short adult height (less than 1 meter), hypodontia, midface hypoplasia, and mild intellectual disability. Vertebrae are ovoid with concave dorsal surfaces in the lumbar region and show delayed bone maturation. Femoral heads and necks are hypoplastic, as are the iliac bodies. Long bones show irregular mineralization of the metaphyses. The first and fifth metacarpals are short and wide with small, late-ossifying epiphyses and bullet-shaped middle phalanges (summary by Barraza-Garcia et al., 2017).
For a discussion of genetic heterogeneity of anauxetic dysplasia, see ANXD1 (607095).|OMIM|N|
C4479376|Pseudo-TORCH syndrome-2 (PTORCH2) is an autosomal recessive multisystem disorder characterized by antenatal onset of intracranial hemorrhage, calcification, brain malformations, liver dysfunction, and often thrombocytopenia. Affected individuals tend to have respiratory insufficiency and seizures, and die in infancy. The phenotype resembles the sequelae of intrauterine infection, but there is no evidence of an infectious agent. The disorder results from inappropriate activation of the interferon (IFN) immunologic pathway (summary by Meuwissen et al., 2016).
For a discussion of genetic heterogeneity of PTORCH, see PTORCH1 (251290).|OMIM|N|
C4479387|Autosomal recessive cutis laxa type IIC (ARCL2C) is characterized by generalized skin wrinkling with sparse subcutaneous fat and dysmorphic progeroid facial features. Most patients also exhibit severe hypotonia as well as cardiovascular involvement (summary by Van Damme et al., 2017).
For a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (219100).|OMIM|N|
C4479409|Autosomal recessive cutis laxa type IID (ARCL2D) is characterized by generalized skin wrinkling with sparse subcutaneous fat and dysmorphic progeroid facial features. Most patients also exhibit severe hypotonia as well as cardiovascular and neurologic involvement (summary by Van Damme et al., 2017).
For a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (219100).|OMIM|N|
C4479410|MDCCAID is an autosomal recessive form of muscular dystrophy with onset of progressive muscle weakness in early childhood. Almost all patients also have early-onset cataracts, most have intellectual disability of varying severity, and some have seizures (summary by Wiessner et al., 2017 and Osborn et al., 2017).|OMIM|N|
C4479416|Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013).
There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, 218330).
For a discussion of genetic heterogeneity of short-rib thoracic dysplasia with or without polydactyly, see SRTD1 (208500).|OMIM|N|
C4479431|BTDD is an autosomal dominant disorder characterized by brachycephaly, trichomegaly, and developmental delay. Although it is caused by dysfunction of the ribosome, patients do not have anemia (summary by Paolini et al., 2017).|OMIM|N|
C4479459|The presence of a population of T cells with a restricted T cell receptor (TCR) repertoire derived from a limited number of TCR clones.|HPO|N|
C4479481|Retinitis pigmentosa-78 (RP78) is an autosomal recessive retinal dystrophy that presents in the third to fourth decade with central visual disturbance, visual field defects, and nyctalopia. Fundus examination reveals optic disc pallor, attenuated retinal vessels, and irregular midperipheral intraretinal pigment migration (Arno et al., 2017).
For a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000.|OMIM|N|
C4479496|Craniosynostosis is a primary abnormality of skull growth involving premature fusion of the cranial sutures such that the growth velocity of the skull often cannot match that of the developing brain. This produces skull deformity and, in some cases, raises intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability (summary by Fitzpatrick, 2013).
For a discussion of genetic heterogeneity of craniosynostosis, see CRS1 (123100).|OMIM|N|
C4479510|Premature ovarian failure-13 (POF13) is characterized by female infertility due to secondary amenorrhea in the third decade of life. Patients exhibit atrophic ovaries devoid of follicles (Guo et al., 2017).
For a general phenotypic description and discussion of genetic heterogeneity of premature ovarian failure, see POF1 (311360).|OMIM|N|
C4479515|BDPLT21 is a hematologic disorder characterized by increased risk of bleeding resulting from a functional platelet defect. Platelets have decreased or even absent dense bodies and abnormally enlarged and fused alpha-granules, and they show defective secretion and aggregation responses to agonists. Platelets are usually enlarged, and some patients may have mild to moderate thrombocytopenia (summary by Saultier et al., 2017).|OMIM|N|
C4479517|Jansen-de Vries syndrome (JDVS) is an autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability with speech delay, and behavioral abnormalities. Most patients have variable additional features, including feeding and gastrointestinal difficulties, high pain threshold and/or hypersensitivity to sound, and dysmorphic features, including mild facial abnormalities, strabismus, and small hands and feet (summary by Jansen et al., 2017).|OMIM|N|
C4479520|IDDFSDA is an autosomal recessive severe multisystem disorder characterized by poor overall growth, developmental delay, early-onset seizures, intellectual disability, and dysmorphic features. There is phenotypic variability. The most severely affected patients have a neurodevelopmental disorder with microcephaly, absent speech, and inability to walk, and they require feeding tubes. Some patients have congenital heart defects or nonspecific abnormalities on brain imaging. Less severely affected individuals have mild to moderate intellectual disability with normal speech and motor development (summary by Santiago-Sim et al., 2017).|OMIM|N|
C4479539|AMC1 is an autosomal recessive severe neurologic disorder with onset in utero. Most affected individuals die in utero or are subject to pregnancy termination because of lack of fetal movements and prenatal evidence of contractures of virtually all joints. Those who survive have generalized contractures and hypotonia. The disorder is caused by a neurogenic defect and poor or absent myelin formation around peripheral nerves rather than by a muscular defect (summary by Xue et al., 2017).
<Genetic Heterogeneity of Arthrogryposis Multiplex Congenita
Also see AMC2 (208100), caused by mutation in the ERGIC1 gene (617946); AMC3 (618484), caused by mutation in the SYNE1 gene (608441); AMC4 (618776), caused by mutation in the SCYL2 gene (616365); AMC5 (618947), caused by mutation in the TOR1A gene (605204), and AMC6 (619334), caused by mutation in the NEB gene (161650)|OMIM|N|
C4479548|Specific granule deficiency-2 (SGD2) is an autosomal recessive immunologic disorder characterized by recurrent infections due to defective neutrophil development. Bone marrow findings include paucity of neutrophil granulocytes, absence of granule proteins in neutrophils, abnormal megakaryocytes, and features of progressive myelofibrosis with blasts. The disorder is apparent from infancy, and patients may die in early childhood unless they undergo hematopoietic stem cell transplantation. Most patients have additional findings, including delayed development, mild dysmorphic features, tooth abnormalities, and distal skeletal defects (Witzel et al., 2017).
For a discussion of genetic heterogeneity of SGD, see SGD1 (245480).|OMIM|N|
C4479552|Nonsyndromic 46,XX testicular disorders/differences of sex development (DSD) are characterized by: the presence of a 46,XX karyotype; external genitalia ranging from typical male to ambiguous; two testicles; azoospermia; absence of müllerian structures; and absence of other syndromic features, such as congenital anomalies outside of the genitourinary system, learning disorders / cognitive impairment, or behavioral issues. Approximately 85% of individuals with nonsyndromic 46,XX testicular DSD present after puberty with normal pubic hair and normal penile size but small testes, gynecomastia, and sterility resulting from azoospermia. Approximately 15% of individuals with nonsyndromic 46,XX testicular DSD present at birth with ambiguous genitalia. Gender role and gender identity are reported as male. If untreated, males with 46,XX testicular DSD experience the consequences of testosterone deficiency.|GeneReviews|N|
C4479566|NMIHBA is a severe autosomal recessive neurodevelopmental and neurodegenerative disorder characterized by global developmental delay apparent from infancy and profoundly impaired intellectual development. Affected individuals have microcephaly with accompanying dysmorphic features, truncal hypotonia, peripheral spasticity, and lack of independent ambulation or speech acquisition. Brain imaging shows variable abnormalities, including cortical atrophy, thin corpus callosum, cerebellar hypoplasia, and delayed myelination (summary by Zollo et al., 2017).|OMIM|N|
C4479569|NEDIM is a neurodevelopmental and neurodegenerative disorder characterized by delayed psychomotor development and infantile or childhood onset of hyperkinetic involuntary movements, including chorea and athetosis. The abnormal movements can be severe, sometimes resulting in inability to sit, walk, speak, or eat. Hyperkinetic movements can be exacerbated by specific triggers, such as stress, illness, or high temperature. Some patients have brain abnormalities, such as cerebral atrophy or thin corpus callosum, and some patients may develop seizures (summary by Ananth et al., 2016 and Danti et al., 2017).|OMIM|N|
C4479577|An inherited condition caused by autosomal dominant mutation(s) in the PPP1CB gene, encoding serine/threonine-protein phosphatase PP1-beta catalytic subunit. The condition is characterized by facial features similar to those seen in Noonan syndrome but may also include short stature, cognitive deficits, relative macrocephaly, small posterior fossa resulting in Chiari I malformation, hypernasal voice, cardiac defects, and ectodermal abnormalities, which typically presents as slow-growing, sparse, and/or unruly hair.|NCI|N|
C4479588|IMD52 is an autosomal recessive primary immunodeficiency with variable manifestations, including severe combined immunodeficiency, hematologic autoimmune disorders, progressive lymphopenia and hypogammaglobulinemia, and lymphoproliferation with splenomegaly. Patients develop severe recurrent infections from infancy, and most die without bone marrow transplantation. The variable clinical features result from a defect in T-cell receptor signaling (summary by Keller et al., 2016 and Bacchelli et al., 2017).|OMIM|N|
C4479599|Stankiewicz-Isidor syndrome (STISS) is a neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, behavioral disorders, mild craniofacial anomalies, and variable congenital defects of the cardiac and/or urogenital systems (summary by Kury et al., 2017).|OMIM|N|
C4479603|SPTBN4 disorder is typically characterized by severe-to-profound developmental delay and/or intellectual disability, although two individuals in one family had a milder phenotype, including one individual with normal cognitive development. Speech and language skills are often severely limited. Affected individuals rarely achieve head control. Most are unable to sit, stand, or walk. Affected individuals typically have congenital hypotonia that may transition to hypertonia. Axonal motor neuropathy leads to hyporeflexia/areflexia and weakness, which can result in respiratory difficulties requiring ventilatory support. Most affected individuals require tube feeding for nutrition. Half of affected individuals develop seizures. Cortical visual impairment and auditory neuropathy have also been reported.|GeneReviews|N|
C4479613|Neurodevelopmental disorder with midbrain and hindbrain malformations (NEDMHM) is an autosomal recessive disorder comprising impaired intellectual development, speech delay, mild microcephaly, and midbrain-hindbrain malformation (Ravindran et al., 2017).|OMIM|N|
C4479618|Erythrokeratodermia variabilis et progressiva-2 (EKVP2) is a genodermatosis characterized by persistent plaque-like or generalized hyperkeratosis and transient red patches of variable size, shape, and location. The severity and dominating features of the disease vary strikingly within families and also during an individual's course of disease. The erythematous component usually prevails in young children, whereas hyperkeratosis is the dominant or sole feature in adults. Some patients with EKVP2 display lesions resembling erythema gyratum repens (summary by Richard et al., 2003). EKVP was previously thought to be separate disorders: erythrokeratodermia variabilis (EKV) and progressive symmetric erythrokeratodermia (PSEK) (van Steensel et al., 2009).
For a discussion of genetic heterogeneity of EKVP, see EKVP1 (133200).|OMIM|N|
C4479619|Erythrokeratodermia variabilis et progressiva is a rare skin disease. Patients with EKVP3 have normal skin at birth but develop hyperpigmentation and scaling at sites of friction in childhood, with progression to near-confluent corrugated hyperkeratosis, palmoplantar keratoderma, and transient figurate erythema (summary by Boyden et al., 2015).
For a discussion of genetic heterogeneity of EKVP, see EKVP1 (133200).|OMIM|N|
C4479620|Erythrokeratodermia variabilis et progressiva-4 is characterized by severe lesions of thick scaly skin on the face and genitals, as well as thickened, red, and scaly skin on the hands and feet (summary by Boyden et al., 2017).
For a discussion of genetic heterogeneity of EKVP, see EKVP1 (133200).|OMIM|N|
C4479631|Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies (NDMSBA) is an autosomal recessive neurodevelopmental disorder characterized by infantile onset of progressive microcephaly and spasticity and severe global developmental delay resulting in profoundly impaired intellectual development and severely impaired or absent motor function. More variable features include seizures and optic atrophy. Brain imaging may show myelinating abnormalities and white matter lesions consistent with a leukoencephalopathy, as well as structural anomalies, including thin corpus callosum, gyral abnormalities, and cerebral or cerebellar atrophy. Some patients die in early childhood (summary by Falik Zaccai et al., 2017 and Hall et al., 2017).|OMIM|N|
C4479636|Intellectual developmental disorder with neuropsychiatric features is an autosomal recessive disorder characterized by moderate intellectual disability, relatively mild seizures, and neuropsychiatric abnormalities, such as anxiety, obsessive-compulsive behavior, and autistic features. Mild facial dysmorphic features may also be present (summary by Srour et al., 2017).|OMIM|N|
C4479637|The name HIST1H1E syndrome has been proposed as a mnemonic for the characteristic features of this emerging, recognizable phenotype: hypotonia; intellectual disability with behavioral issues; skeletal; testes (undescended) and thyroid; heart anomalies (most commonly atrial septal defect); and ectodermal issues (including sparse hair, thin nails, and abnormal dentition). In the 47 affected individuals reported to date, predominant findings were intellectual disability (ranging from mild to profound) and behavioral problems (combinations of anxiety/phobias, obsessive behaviors, attention-deficit/hyperactivity disorder, and autistic spectrum disorder/traits among others). Skeletal involvement can include scoliosis and decreased bone mineral density. Other findings in some include seizures, craniosynostosis, and hearing loss. Life expectancy does not appear to be reduced in HIST1H1E syndrome.|GeneReviews|N|
C4479643|Absence of the fibers that connect the contralateral hippocampi via the crura of the fornix and run beneath the posterior portion of the corpus callosum.|HPO|N|
C4479645|A developmental defect characterized by an abnormal cleft (V-shaped indentation of the stalklike part of the brain consisting of the medulla oblongata, the midbrain, and the pons.|HPO|N|
C4479652|Gabriele-de Vries syndrome is characterized by mild-to-profound developmental delay / intellectual disability (DD/ID) in all affected individuals and a wide spectrum of functional and morphologic abnormalities. Intrauterine growth restriction or low birth weight and feeding difficulties are common. Congenital brain, eye, heart, kidney, genital, and/or skeletal system anomalies have also been reported. About half of affected individuals have neurologic manifestations, including hypotonia and gait abnormalities. Behavioral issues can include attention-deficit/hyperactivity disorder, anxiety, autism or autistic behavior, and schizoaffective disorder.|GeneReviews|N|
C4479653|NKX6-2-related disorder is characterized by a spectrum of progressive neurologic manifestations resulting from diffuse central nervous system hypomyelination. At the severe end of the spectrum is neonatal-onset nystagmus, severe spastic tetraplegia with joint contractures and scoliosis, and visual and hearing impairment, all of which rapidly progress resulting in death in early childhood. At the milder end of the spectrum is normal achievement of early motor milestones in the first year of life followed by slowly progressive complex spastic ataxia with pyramidal findings (spasticity with increased muscle tone and difficulty with gait and fine motor coordination) and cerebellar findings (nystagmus, extraocular movement disorder, dysarthria, titubation, and ataxia) with loss of developmental milestones. To date NKX6-2-related disorder has been reported in 25 individuals from 13 families.|GeneReviews|N|
C4479654|EED-related overgrowth is characterized by fetal or early childhood overgrowth (tall stature, macrocephaly, large hands and feet, and advanced bone age) and intellectual disability that ranges from mild to severe. To date, EED-related overgrowth has been reported in eight individuals.|GeneReviews|N|
C4479656|Perrault syndrome is characterized by sensorineural hearing loss (SNHL) in males and females and ovarian dysfunction in females. SNHL is bilateral and ranges from profound with prelingual (congenital) onset to moderate with early-childhood onset. When onset is in early childhood, hearing loss can be progressive. Ovarian dysfunction ranges from gonadal dysgenesis (absent or streak gonads) manifesting as primary amenorrhea to primary ovarian insufficiency (POI) defined as cessation of menses before age 40 years. Fertility in affected males is reported as normal (although the number of reported males is limited). Neurologic features described in some individuals with Perrault syndrome include learning difficulties and developmental delay, cerebellar ataxia, and motor and sensory peripheral neuropathy.|GeneReviews|N|
C4479748|Absence of follicles.|NCI|N|
C4484175|The morphologic architectural pattern in which the tumor cells spread.|NCI|N|
C4489193|An indication that expression of a nuclear factor is detected in the nuclei of cells in a sample.|NCI|N|
C4489194|An indication that expression of a nuclear factor is not detected in the nuclei of cells in a sample.|NCI|N|
C4489241|Nothing was identified.|NCI|N|
C4489397|A subjective response indicating that an individual is not at all satisfied.|NCI|N|
C4505047|A metabolic excess of REACTIVE NITROGEN SPECIES, including NITRIC OXIDE and PEROXYNITRITE, that leads to damaging effects of oxidation and nitration.|MSH|N|
C4505065|Diseases which are typically non-infectious in origin and do not transmit from an affected individual to others. The four main types of noncommunicable diseases are CARDIOVASCULAR DISEASES (e.g., heart attacks and stroke), CANCER, chronic respiratory diseases (e.g., CHRONIC OBSTRUCTIVE PULMONARY DISEASE and ASTHMA) and DIABETES MELLITUS.|MSH|N|
C4505072|EPILEPTIC SEIZURES that are of similar type and age of onset and have other similar features (e.g., clinical course, EEG findings, genetic association and neuropathology).|MSH|N|
C4505075|The reduction in density of the MICROVASCULATURE.|MSH|N|
C4505102|A spotted fever that has material basis in Rickettsia honei, which is transmitted by cayenne ticks (Amblyomma cajennense). The infection has symptom mild spotted fever, has symptom eschar and has symptom adenopathy.|MONDO|N|
C4505163|A cluster of chemical dependencies to specific foods or food in general in which there develops a physical craving for these foods.|MSH|N|
C4505170|Various tubular forms of benign tumors of the SWEAT GLAND with glandular differentiation. Common types include syringocystadenoma papilliferum of the head and neck, and hidradenoma papilliferum of the vulva area. Hidradenoma papilliferum may be derived from mammary-like glands of the vulva.|MSH|N|
C4505172|Impaired or delayed impulse conduction between the right and left HEART ATRIA. Advanced interatrial blocks are often associated with arrhythmias (e.g., ATRIAL FLUTTER; and ATRIAL FIBRILLATION), direct conduction block via the Bachmann''s bundle and concomitant left atrial enlargement. Syndrome of advanced interatrial block associated with SUPRAVENTRICULAR TACHYCARDIA is referred to as Bayes syndrome.|MSH|N|
C4505184|Bleeding within the CEREBRAL VENTRICLES. It is associated with intraventricular trauma, aneurysm, vascular malformations, hypertension and in VERY LOW BIRTH WEIGHT infants.|MSH|N|
C4505222|The duration of time between when the lights are turned off and when the individual falls asleep.|NCI|N|
C4505226|Violence based on gender that results in, or is likely to result in, physical, sexual or mental harm or suffering, including threats of such acts, coercion or arbitrary deprivation of liberty, whether occurring in public or in private life. (From www.who.int/topics/gender_based_violence/en/)|MSH|N|
C4505258|Regulation of the concentration, folding, interactions, and cellular localization of each of the proteins that comprise the PROTEOME.|MSH|N|
C4505262|The dependence of tumor cells on a single oncogenic pathway or protein for their continued proliferation and survival.|MSH|N|
C4505271|Allergic reaction to tree nuts and peanuts, including other LEGUMES, that is triggered by the immune system. It includes co-sensitization to other food (e.g., sesame seed).|MSH|N|
C4505278|Abuse, overuse, or misuse of a substance by ingestion.|MSH|N|
C4505286|A condition or factor associated with a recipient that makes the use of a specific drug improper or inadvisable.|MSH|N|
C4505287|A condition or factor associated with a recipient that makes the use of a procedure improper or inadvisable.|MSH|N|
C4505311|Movement of internal organs due to physiological processes.|MSH|N|
C4505330|Health problems associated with TRAVEL.|MSH|N|
C4505350|Infectious diseases originating in one geographically delineated ecosystem that are carried (by travel or immigration) to another geographically delineated ecosystem by an infected individual, animal, or disease vector.|MSH|N|
C4505351|Conversion of ARGININE residues in proteins into CITRULLINE residues by PROTEIN-ARGININE DEIMINASES.|MSH|N|
C4505470|A benign epithelial neoplasm arising from the sweat glands. It presents as a nodular lesion usually in the scalp, trunk, and proximal extremities. It is characterized by a nodular growth pattern. Complete excision is curative.|MONDO|N|
C4505487|A rare viral infection disorder caused by the Hendra virus with characteristics of the onset of flu-like symptoms (fever, myalgia, headaches, lethargy) approximately one week after having been in close contact with bodily fluids of infected horses. Neurological manifestations (for example vertigo, confusion, ataxia) and progressive respiratory failure, leading to death, have also been reported.|SNOMEDCT_US|N|
C4505492|Liver disease lasting six months or more, caused by an adverse effect of a drug or chemical. The adverse effect may be caused by drugs, drug metabolites, chemicals from the environment, or an idiosyncratic response.|MSH|N|
C4509020|A rare subtype of indolent systemic mastocytosis with characteristics of isolated bone marrow involvement without skin lesions, low burden of neoplastic mast cells and often normal or near normal serum tryptase levels. The KIT D816V mutation is present in the majority of cases.|SNOMEDCT_US|N|
C4509425|A very rare secondary neonatal autoimmune disease with characteristics of neonatal-onset of erythematous skin lesions with a linear appearance that gradually become indurated and hyperpigmented and progressively present skin atrophy. Positive serum antibodies (in particular antinuclear antibodies and/or rheumatoid factor) may be associated.|SNOMEDCT_US|N|
C4509470|A set of symptoms that can occur when a person stops taking antidepressant medication or reduces the dosage too quickly. ADS (antidepressant discontinuation syndrome) typically begins 2-4 days after the medication is discontinued and usually lasts for 2-3 weeks. It can occur following treatment with all types of antidepressant and symptoms can vary depending on the medication being taken and dosage but can include flu-like symptoms, insomnia, nausea, imbalance and irritability or agitation.|SNOMEDCT_US|N|
C4509816|A squamous cell carcinoma that arises from the lung. It is characterized by the presence of large malignant cells. It includes the clear cell and papillary variants of squamous cell carcinoma.|NCI|N|
C4509817|This syndrome has characteristics of intellectual deficit, a cardiac anomaly, micropenis, hypothyroidism, epileptic seizures and skeletal anomalies. It has been described in two males.|SNOMEDCT_US|N|
C4509818|Facial onset sensory and motor neuronopathy is characterized initially by paresthesia and numbness in the region of the trigeminal nerve distribution, which later progresses to involve the scalp, neck, upper trunk and upper limbs. Onset of motor manifestations occurs later with cramps, fasciculations, dysphagia, dysarthria, muscle weakness and atrophy. This syndrome has been described in four males and appears to be a slowly progressive neurodegenerative disease.|SNOMEDCT_US|N|
C4509838|A very rare syndrome that presents with short and sparse scalp hair from birth or the first months of life with no subsequent growth during life. During the first to third decades of life, visual acuity decreases because of progressive macular degeneration, leading in many cases to blindness between the second and fourth decades of life. The hair phenotype does not improve significantly with age, even though diffuse alopecia in infancy can evolve towards short and sparse hair in puberty. Caused by mutations in the CDH3 gene (16q22.1), encoding P-cadherin. P-cadherin is part of adherens junctions in various epithelia including the hair follicular epithelium. Inherited in an autosomal recessive pattern.|SNOMEDCT_US|N|
C4509839|Syndrome with characteristics of hypotrichosis, syndactyly, intellectual deficit and early eruption of teeth. It has been described in two patients. The mode of transmission appears to be autosomal recessive.|SNOMEDCT_US|N|
C4509840|Syndrome that combines the features of macrostomia or abnormal mouth contour, preauricular tags, uni- or bilateral ptosis and external ophthalmoplegia. It is described in nine members of a Brazilian family. It is a phenotype belonging to the so-called oculoauriculovertebral spectrum, resulting from a branchial arch anomaly. Transmission is autosomal dominant.|SNOMEDCT_US|N|
C4509853|A genetic variant of mendelian susceptibility to mycobacterial diseases characterized by Bacille Calmette-Guerin (BCG) infections. The prevalence is unknown. Caused by mutations in the ISG15 gene (1p36.33), which encodes an IFN-alpha/beta inducible, ubiquitin-like intracellular protein. These mutations impair ISG15 secretion by leukocytes, a molecule which plays an essential role as an IFN-gamma-inducing secreted molecule needed for optimal antimycobacterial immunity. Inherited in an autosomal recessive manner.|SNOMEDCT_US|N|
C4509854|A rare genetic variant of mendelian susceptibility to mycobacterial disease with characteristics of selective susceptibility to relatively mild infections with bacillus Calmette-Guerin (BCG). The prevalence is unknown. The first infections occur after vaccination with BCG and before the age of 2. No other infectious diseases have been reported. Caused by heterozygous mutations in the IRF8 gene on chromosome 16q24.1 which encodes IRF8, a protein essential for the development of dendritic cells and the differentiation of macrophages and granulocytes. Mutations in the IRF8 gene impair IL-12 secretion by monocytes and dendritic cells. Inherited in an autosomal dominant manner.|SNOMEDCT_US|N|
C4509855|A genetic variant of mendelian susceptibility to mycobacterial disease with characteristics of a partial defect in the interferon (IFN)-gamma pathway, leading to mild mycobacterial infections. The prevalence is unknown. First infections occur after the age of 3. Clinical penetrance is incomplete and some patients are asymptomatic while others have very mild clinical manifestations. Caused by heterozygous mutations in the STAT1 gene on chromosome 2q32.2-q32.3 encoding the signal transducer and activator of transcription 1. Two distinct forms have been described: one affecting phosphorylation and the other impairing DNA-binding activity. Transmission is autosomal dominant.|SNOMEDCT_US|N|
C4509877|A skeletal dysplasia with distinct facial phenotype, short stature, brachydactyly, clubfoot deformities, cataracts, and microcephaly. It has been described in four patients. Facial features include frontal bossing with a depression over the metopic suture, a narrow nasal root with a beaked nose, and midfacial hypoplasia with prominent eyes. Characteristic radiographic findings are observed (including irregularities of the vertebral bodies, hypoplasia of the odontoid process, short phalanges, coning several epiphyses).|SNOMEDCT_US|N|
C4509878|A syndrome of abnormal cortical development with characteristics of severe prenatal polyhydramnios, postnatal microcephaly, lissencephaly, upper limb micromelia, dysmorphic facies (coarse face, hypertrichosis, and short nose with long philtrum), intractable seizures, and early death. Hypoparathyroidism was noted in one case.|SNOMEDCT_US|N|
C4509879|A malformative syndrome due to the teratogenic effect of mycophenolate mofetil (MMF), an effective immunosuppressive agent widely used for the prevention of organ rejection after organ transplantation. To date the majority of cases have been offspring of women who received a solid organ transplant. The newborn or fetus generally has external ear anomalies. Cleft lip-palate with micrognathia is frequently observed. Aberrant orofacial cleft has been observed in one case. Ocular anomalies, such as microphthalmia and iris or chorioretinal coloboma are also frequent. Distal limbs anomalies as well as congenital malformations of the heart, kidneys and/or central nervous system may also be observed.|SNOMEDCT_US|N|
C4509880|Disease characterised by progressive limb and axial muscle weakness associated with cardiomyopathy and severe respiratory insufficiency during adolescence. The disease manifests during childhood and progresses rapidly. Two patients presented with a rigid spine and one a peripheral neuropathy. Disintegration of Z disks, extensive accumulation of granular debris and larger inclusions and apoptosis of a small fraction of the nuclei distinguish the disease. Caused by a mutation in the BAG3 gene, encoding a protein localised to the Z disk. Transmission is autosomal dominant.|SNOMEDCT_US|N|
C4509881|A patterned dystrophy of the retinal pigment epithelium with characteristics of multiple yellowish irregular flecks scattered or interconnected around the macula, simulating what is observed in Stargardt disease. Usually asymptomatic until adulthood when patients present with a slowly progressive loss of vision that often only becomes apparent in old age.|SNOMEDCT_US|N|
C4509917|Disease with characteristics of the onset in infancy of cerebellar ataxia, neonatal hypotonia (in some), mild developmental delay and in later life intellectual disability. Less common features include dysarthria, dysmetria and dysmorphic facial features (long face, bulbous nose long philtrum, thick lower lip and pointed chin). Caused by heterozygous disruption of the CAMTA1 gene on chromosome 1p36.|SNOMEDCT_US|N|
C4509918|Rare syndrome with characteristics of the combination of polyvalvular heart disease, short stature, facial anomalies and intellectual deficit. Dysplasia may involve the mitral, tricuspidal, aortic and pulmonary valves. Dysmorphic facial anomalies are usually mild, vary among families and include a dolichocephalic face, broad forehead, ptosis, prominent nose, crowded teeth, high-arched palate and posteriorly angulated and everted ears. The severity of short stature is variable, as is the presence of intellectual deficit. The condition seems to be transmitted as an autosomal dominant trait.|SNOMEDCT_US|N|
C4509919|A form of ectodermal dysplasia with characteristics of dystrophy of the distal part of the nails and trichodysplasia. It has been described in only one family. Transmission is autosomal recessive.|SNOMEDCT_US|N|
C4509920|A slowly progressive Refsum-like disorder associating signs of peripheral neuropathy with late-onset hearing loss, cataract and pigmentary retinopathy that becomes evident during the third decade of life. The syndrome has been described in three patients from a consanguineous family (one brother, one sister and a male cousin). The disease manifests during childhood with pes cavus and tendo-achilles contractures. A disorder of gait, due to ataxia and spasticity, develops during adulthood. Contrarily to Refsum disease, plasmatic phytanic and pristanic acid levels as well as alpha-oxidation enzymatic activity are normal. Transmission is autosomal recessive. The disease was mapped on chromosome 20 (20p11.21-q12).|SNOMEDCT_US|N|
C4509932|A benign natural killer (NK) cell lymphoproliferative disease with characteristics of minor abdominal symptoms (abdominal pain, diverticulosis, constipation and reflux) due to NK cell-derived lesions in the mucosal layer of the gastrointestinal tract and often mistaken for NK or T-cell lymphoma.|SNOMEDCT_US|N|
C4509933|Syndrome with the association of sensorineural hearing impairment and peripheral neuropathy. It has been described in members from four generations of a Spanish family. The hearing impairment was mild and often asymmetrical. The neuropathy was demyelinating with predominantly sensory involvement but severity was variable ranging from asymptomatic individuals to patients with skin ulcers and osteomyelitis requiring amputation. Caused by mutations in the GJB3 gene (1p34). The syndrome is transmitted in an autosomal dominant manner.|SNOMEDCT_US|N|
C4509946|A rare infectious skin disease characterised by the development of follicular papules with keratin spicules in various parts of the body, predominantly in the face (e.g. nose, eyebrows, auricles), that is due to Polyomavirus infection in immunocompromised patients.|SNOMEDCT_US|N|
C4509950|A very rare condition where a maternal riboflavin deficiency causes an infant to present with manifestations similar to those seen in multiple acyl-CoA dehydrogenase (MAD) deficiency such as poor suck, metabolic acidosis and hypoglycemia, but that resolves completely with oral riboflavin. In the one patient described haploinsufficiency of the human riboflavin transporter (hRFT1) was described in the mother.|SNOMEDCT_US|N|
C4509953|Syndrome with characteristics of malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis. It has been described in 18 females, six of whom came from four different generations of the same family. Phenotypic expression is very heterogeneous. In the majority of patients, the bone dysplasia is limited to the hands and feet but shortening and/or bowing of the bones of the arms and legs has been reported in severe cases. The pigmentary lesions and digital fibromatosis appear a few months after birth. There is evidence that the syndrome is caused by mutation in the FLNA gene. The syndrome is transmitted as an in utero male-lethal X-linked dominant trait, explaining the large number of miscarriages reported in the affected families.|SNOMEDCT_US|N|
C4509954|An extremely rare form of primary osteolysis, described in two sisters to date, with characteristics of bilateral osteolysis of the tali, scaphoids, and patellae (accompanied by periarticular swelling and pain) and short fourth metacarpals in the absence of renal disease. Autosomal recessive inheritance has been suggested.|SNOMEDCT_US|N|
C4509964|Syndrome with characteristics of infantile symmetrical distal muscle weakness and atrophy of the lower limbs, bilateral anterior polar cataracts and Dandy-Walker malformation. It has been described in two brothers. No sensorineural or cognitive deficits were observed. The karyotypes of the two patients were normal. No mutations were found in the survival motor neurone (SMN), neuronal apoptosis inhibitory protein (NAIP) or androgen receptor genes.|SNOMEDCT_US|N|
C4509974|This syndrome has characteristics of nonprogressive spastic paraplegia, retinitis pigmentosa and intellectual deficit. It has been described in two brothers born to consanguineous parents.|SNOMEDCT_US|N|
C4510006|Refers to the presence in the serum of one isotype or subclass of immunoglobulin (Ig) that precipitates reversibly below 37°C. The prevalence is unknown. This serological disorder is almost invariably associated with well-known hematological disorders, usually B-cell dyscrasia (multiple myeloma, Waldenstrom macroglobulinemia, or chronic lymphocytic leukemia). Type I cryoglobulinemia is frequently asymptomatic per se but patients may develop acrocyanosis, retinal hemorrhage, Raynaud''s phenomenon and arterial thrombosis. The pathogenetic processes in simple cryoglobulinemia generally appear to be related to those of the underlying lymphoproliferative diseases.|SNOMEDCT_US|N|
C4510007|This syndrome has characteristics of severe intellectual deficit, epilepsy, hypoplasia of the terminal phalanges and an anteriorly displaced anus. It has been described in two sisters born to consanguineous parents. The syndrome is transmitted as an autosomal recessive trait and appears to be caused by anomalies in chromosome regions on chromosome 1 and chromosome 14.|SNOMEDCT_US|N|
C4510043|The most severe subtype of dystrophic epidermolysis bullosa characterized by generalized cutaneous and mucosal blistering and scarring associated with severe deformities and major extracutaneous involvement. Blisters develop at birth or during the neonatal period and affect all the body as well as the oral and gastrointestinal mucosa. Eye involvement is frequent and includes blepharitis and corneal blisters that can lead to loss of vision. Esophageal stricture is frequent and result in severe dysphagia. Nearly all patients develop at least one aggressive squamous cell carcinoma. The disease is caused by null mutations within the type VII collagen gene (COL7A1) that usually lead to a lack of functional collagen VII, the main constituent of anchoring fibrils that anchor the basement membrane to the dermis. Transmission is autosomal recessive.|SNOMEDCT_US|N|
C4510044|Syndrome is characterised by the combination of sensorineural hearing loss, early greying of scalp hair and adult onset essential tremor. It has been described in three unrelated individuals. Additional family members in each family showed varied expression of these three signs. The syndrome appears to be autosomal dominant with variable penetrance but the causative mutation has not yet been identified.|SNOMEDCT_US|N|
C4510085|A rare disease with three inherited morbidities; idiopathic pulmonary fibrosis, hepatic nodular regenerative hyperplasia leading to portal hypertension and thrombocytopenia due to bone marrow hypoplasia. The condition is associated with 100% mortality.|SNOMEDCT_US|N|
C4510086|Syndrome that is characterised by generalised keratosis follicularis, severe proportionate dwarfism and cerebral atrophy. It has been described in six males from one family (three boys and three maternal uncles). Generalised alopecia and microcephaly were also present.|SNOMEDCT_US|N|
C4510132|A rare, genetic, cardiac rhythm disease characterized by ventricular fibrillation in the absence of any structural or functional heart disease, or known repolarization abnormalities. The presence of J waves is associated with a higher risk of nocturnal ventricular fibrillation events and a higher risk of recurrence.|ORPHANET|N|
C4510220|An extremely rare autosomal dominant syndrome described in two families to date and with characteristics of moderate to severe sensorineural hearing loss manifesting during childhood and associated with late-onset dilated cardiomyopathy that generally progresses to heart failure. Caused by mutation in the EYA4 gene.|SNOMEDCT_US|N|
C4510221|This syndrome has characteristics of hydroxylysinuria, myoclonic and motor seizures and intellectual deficit. It has been described in a brother and sister born to consanguineous parents and in one unrelated patient.|SNOMEDCT_US|N|
C4510224|Syndrome that is characterized by progressive hyalinosis involving capillaries and often arterioles and small veins of the digestive tract and kidneys and idiopathic cerebral calcifications. It has been described in three sisters born to non-consanguineous parents. All three patients also had poikiloderma and graying hair, as well as severe diarrhea, rectal bleeding, malabsorption and subarachnoid hemorrhage.|SNOMEDCT_US|N|
C4510249|The association of absence of the lower lid lacrimal punctum, bilateral ptosis, elevation deficiency of both eyes and mild facial dysmorphism. It has been described in three siblings. The facial dysmorphism includes a narrow and squared forehead, low set and dysplastic ears, a relatively long philtrum, telecanthus, bilateral thick eyebrows and absence of bilateral lower medial eyelashes. The affected patients have no intellectual deficit. The condition seems to be transmitted as an autosomal recessive trait.|SNOMEDCT_US|N|
C4510276|This syndrome is characterized by psychomotor delay and severe myopathy (hypotonia, absent tendon reflexes and delayed myelination) from birth, associated with hypermethioninemia and elevated serum creatine kinase levels. It has been described in three unrelated patients. Transmission appears to be autosomal recessive. Two causative mutations have been identified in the gene encoding S-adenosylhomocysteine hydrolase (SAHH; AHCY), an enzyme involved in methionine metabolism. A methionine-restricted diet, together with creatine supplements, may partly improve the delayed myelination and psychomotor development.|SNOMEDCT_US|N|
C4510302|Vasculitis has characteristics of inflammatory lesions in the wall of vessels and may be due to different viruses. Pathophysiology is partially misunderstood. However, mechanisms including direct injury by the virus or vascular damage resulting from immune reaction are incriminated. Few viruses are thought to be responsible for vasculitis even though their triggering role is not always easily confirmed. In less common cases, vasculitis affects immunocompetent patients, thus resembling polyarteritis nodosa or cutaneous angiitis.|SNOMEDCT_US|N|
C4510303|Syndrome with characteristics of congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters. Serum lactic dehydrogenase activity was elevated in the mother and 1 daughter.|SNOMEDCT_US|N|
C4510305|Pericardial and diaphragmatic defect is a rare combination of absent pericardium with congenital diaphragmatic defect. It has been reported in less than 20 patients. The absence of pericardic tissue is complete or partial. The diaphragmatic hernia is most often left-sided. Some patients have additional digestive tract malformations. The few reported cases were all sporadic except in a family in which the recurrence of these anomalies in two siblings and the parental consanguinity suggested an autosomal recessive inheritance.|SNOMEDCT_US|N|
C4510306|Syndrome with characteristics of severe pre and post-natal growth retardation, microcephaly, intractable feeding difficulties, mild psychomotor retardation, hypotonia and facial dysmorphism. It has been reported in 2 unrelated patients. Facial dysmorphism includes high forehead, broad nasal bridge, thin upper lip, small chin and malformed ears. In addition, the patients presented with skin, iris and hair hypopigmentation and abnormal adipose tissue distribution. The syndrome is caused by an interstitial deletion of paternal origin at 20q13.2q13.3. In the 2 cases, the deletion was approximately 4.5Mb in size and encompassed the GNAS imprinted locus; the loss of the paternally expressed GNAS gene might account for the severe pre and post-natal retardation and intractable feeding difficulties observed in the patients.|SNOMEDCT_US|N|
C4510366|Syndrome with characteristics of variable anomalies of the urinary tract, thumbs and big toes, deafness and nephrosis. It has been described in five brothers. The mode of transmission has not been clearly established but seems to be either autosomal recessive or X-linked dominant.|SNOMEDCT_US|N|
C4510367|A syndrome associating neonatal diabetes, congenital hypothyroidism, congenital glaucoma, hepatopathy evolving to fibrosis and polycystic kidneys. It has been described in two siblings. Minor facial anomalies were also observed. Two other families presented incomplete forms of this syndrome. Mutations in GLIS3 encoding for the transcription factor GLI similar 3 seem to be responsible for the syndrome.|SNOMEDCT_US|N|
C4510369|In adults over 50 years of age, Fanconi syndrome is frequently related to the urinary secretion of a monoclonal immunoglobulin (Ig) light chain (LC), almost always of the kappa isotype. Prevalence is unknown but around 100 cases have been described in the literature so far. Onset occurs during adulthood: bone pain related to osteomalacia secondary to hypophosphataemia and progressive chronic renal failure are the usual manifestations. These manifestations may precede the diagnosis of a slowly progressive plasma cell disorder by several years. In most cases, the monoclonal kappa light chain is restricted to the V kappa-1 subgroup and bears non-polar or hydrophobic mutations in the variable domain, which induce resistance to cathepsin proteolysis in the proximal tubular cells and promote crystallisation of the variable domain within the endolysosomal compartment.|SNOMEDCT_US|N|
C4510377|A very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects. It has been reported in a father and his son. Bone dysplasia has characteristics of diaphyseal thickening of the long bones, metaphyseal deformation and epiphyseal irregularities. Eye defects consisted of myopia, microspherophakia, lens coloboma and luxation and retinal detachment. The affected patients have normal mental development.|SNOMEDCT_US|N|
C4510379|A teratogenic embryofetopathy that results from maternal exposition to methimazole in the first trimester of pregnancy. Methimazole is an antithyroid thionamide drug used for the treatment of Graves'' disease. In the infant, methimazole may result in choanal atresia, esophageal atresia, omphalocele, omphalomesenteric duct anomalies, congenital heart disease (such as ventricular septal defect), renal system malformations and aplasia cutis. Additional features that may be observed include facial dysmorphism (short up slanting palpebral fissures, a broad nasal bridge with a small nose and a broad forehead) and athelia.|SNOMEDCT_US|N|
C4510380|Syndrome with characteristics of metaphyseal dysplasia associated with short stature and facial dysmorphism (a beaked nose, short philtrum, thin lips, maxillary hypoplasia, dystrophic yellowish teeth) and acral anomalies (short fifth metacarpals and/or short middle phalanges of fingers two and five). It has been described in several members spanning four generations of a French-Canadian family. The syndrome is likely to be transmitted as an autosomal dominant trait. There is evidence this syndrome is caused by heterozygous duplication resulting in a gain of function in the RUNX2 gene on chromosome 6p21.|SNOMEDCT_US|N|
C4510409|A mitochondrial disease described in two unrelated families to date that has a heterogeneous clinical presentation. The syndrome features the association of progressive sensorineural hearing loss with hypertrophic cardiomyopathy and in the majority of cases, encephalomyopathy symptoms such as ataxia, slurred speech, progressive external ophthalmoparesis, muscle weakness, myalgia and exercise intolerance.|SNOMEDCT_US|N|
C4510410|A very rare syndrome with characteristics of the association of Mobius syndrome (congenital facial palsy with impaired ocular abduction) with peripheral axonal neuropathy and hypogonadotropic hypogonadism. All of the reported cases were sporadic.|SNOMEDCT_US|N|
C4510411|This syndrome has characteristics of severe growth retardation associated with immunodeficiency. Less than 10 cases have been described in literature. Individuals present with typical clinical and biochemical features of Laron syndrome such as post-natal growth retardation, delayed bone age and facial dysmorphism (prominent forehead, hypoplastic nasal bridge), and low serum IGF-1 concentrations with normal or high GH concentrations. Immunodeficiency has manifestations of moderate lymphopenia which leads to recurrent infections of the skin and respiratory tract. The syndrome is due to mutation in the signal transducer and activator of transcription 5b gene (STAT5b). Transmission is autosomal recessive.|SNOMEDCT_US|N|
C4510474|A basal subtype of epidermolysis bullosa simplex characterized by generalized or, less frequently, localized acral blistering. 19 cases have been reported to date. Onset of the disease is usually at birth. Milia are rare but atrophic scarring and dystrophic nails usually occur, along with focal keratoderma (palms and soles) and rarely ichthyotic plaques. Extracutaneous involvement is common, including anemia, growth retardation, oral cavity abnormalities (blisters and erosions, and caries) and constipation. Due to mutations in the KRT14 gene (17q12-q21), encoding keratin 14. Transmission is autosomal recessive.|SNOMEDCT_US|N|
C4510514|Syndrome with the association of palmoplantar keratosis and clinodactyly of the fifth finger. Less than 20 cases have been described in the literature so far, and the majority of reported patients were of Mexican origin. Transmission is autosomal dominant.|SNOMEDCT_US|N|
C4510560|Hypersensitivity in form of an adverse immune reaction against insect venom.|HPO|N|
C4510564|Infant epilepsy with migrant focal crisis is characterized by early-onset progressive encephalopathy with migrant, continuous myoclonus. Three cases have been reported. The focal continuous myoclonus appeared during the first months of life. Prolonged bilateral myoclonic seizures and generalized tonic-clonic seizures occurred later. Subsequently, a progressive encephalopathy with hypotonia and ataxia appeared. Cortical atrophy was revealed by computed tomography scan and magnetic resonance imaging. The etiology is unknown.|SNOMEDCT_US|N|
C4510566|Syndrome with characteristics of congenital ichthyosis and hypotrichosis. It has been described in three members of a consanguineous Arab Israeli family. The syndrome is transmitted as an autosomal recessive trait and is caused by a missense mutation in the ST14 gene, encoding the recently identified protease, matriptase on chromosome 11q24. Analysis of skin samples from the patients suggests that this enzyme plays a role in epidermal desquamation.|SNOMEDCT_US|N|
C4510568|Syndrome with the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism. It has been described in two males. Additional features included bilateral inguinal hernias, undescended testes, and impaired vision with cataracts and colobomata.|SNOMEDCT_US|N|
C4510610|Disease characterised by congenital joint contractures (normalising during early childhood), external ophthalmoplegia and proximal muscle weakness. In adult cases, the muscular weakness is progressive. Nineteen affected individuals have been described from one large family. The causative gene, the hereditary inclusion-body myopathy (IBM3) gene, has been mapped to chromosome region 17p13.1. Inheritance is autosomal dominant.|SNOMEDCT_US|N|
C4510617|A rare congenital bleeding disorder resulting from variably decreased levels of coagulation factors II, VII, IX and X, as well as natural anticoagulants protein C, protein S and protein Z. Other symptoms are often present, including developmental and skeletal anomalies (stippling of the long bones, shortness of the distal phalanges of the fingers, osteoporosis) and pseudoxanthoma elasticum-like syndrome. This disease is an autosomal recessive disorder caused by mutations in the genes encoding either gamma-glutamyl carboxylase (GGCX; 2p12) or the vitamin K 2,3-epoxide reductase complex subunit 1 (VKORC1; 16p11.2). These two proteins are necessary for gamma-carboxylation, a postsynthetic modification that allows coagulation proteins to display their proper function.|SNOMEDCT_US|N|
C4510630|Syndrome that is characterised by the association of severe hypogammaglobulinaemia, combined T and B cell immunodeficiency, absent lymph node germinal centres, absent tissue plasma cells and hepatic veno-occlusive disease. Mutations in the gene coding PML nuclear body protein Sp110 on chromosome 2q37 were found to be responsible for this association. Transmission is autosomal recessive.|SNOMEDCT_US|N|
C4510649|A rare dystonia with a combination of hemidystonia involving one half of the body and hemiatrophy on the same side. Hemidystonia which is sustained and repetitive muscle contractions resulting in abnormal movements or posture involving a single side of the body is preceded in 90% of cases by hemiparesis with a marked improvement before the onset of hemidystonia. Pyramidal syndrome and seizures may also be observed. The syndrome is associated with ipsilateral somatic atrophy. Common causes are childbirth or perinatal complications, delayed sequelae of stroke or head trauma. This syndrome should be differentiated from other causes of primary dystonia or dystonia secondary to inherited disorders or neurodegenerative diseases.|SNOMEDCT_US|N|
C4510723|A rare developmental defect during embryogenesis with characteristics of underdevelopment of the optic nerve with a subnormal number of optic nerve axons. The condition may be unilateral or bilateral and can occur as an isolated defect or accompany other ocular or cerebral abnormalities. Funduscopic examination reveals a small optic disc, often associated with the double-ring sign, a ring of hypo or hyperpigmentation surrounding the disc. Clinically, vision may be severely impaired or remain unaffected.|SNOMEDCT_US|N|
C4510728|A phenotype of frontonasal dysplasia associated with total alopecia and hypogonadism. Four cases have been described in two families. The frontonasal dysplasia includes coronal craniosynostosis, large skull defect with aplasia of ethmoid and nasal bones, hypertelorism, severely depressed nasal bridge and bifid nasal tip. Affected individuals have mild to moderate intellectual deficit. A homozygous nonsense mutation in the human aristaless-like 4 (ALX4, 11p11.2) gene was identified in both families. The condition is transmitted as an autosomal recessive trait.|SNOMEDCT_US|N|
C4510729|Epilepsies that have a distinct immune-mediated etiology with evidence of central nervous system inflammation, that has been demonstrated to be associated with a substantially increased risk of developing epilepsy.|MONDO|N|
C4510730|A rare craniosynostosis syndrome with characteristics of scaphocephaly, macrocephaly, severe maxillary retrusion, and mild intellectual disability. It has been reported in 11 patients from a three-generation family. The patients had variable dysmorphic features including high forehead, marked midface hypoplasia with severe maxillary retrusion, relative or absolute prognathism, and malocclusion. More severely affected patients were male and had intellectual disability. Molecular analysis revealed a K526E mutation of the fibroblast growth factor receptor 2 gene FGFR2.|SNOMEDCT_US|N|
C4510731|Familial primary hypomagnesemia with normocalciuria and normocalcemia (FPHNN) is a form of familial primary hypomagnesemia (FPH), characterized by low serum magnesium (Mg) values but inappropriate normal urinary Mg values (i.e. renal hypomagnesemia). The typical symptoms are weakness of the limbs, vertigo, headaches, seizures, brisk tendon reflexes and mild to moderate psychomotor delay.|MONDO|N|
C4510744|A disorder of sex development associated with anomalies in gonadal development that results in genital ambiguity of variable degree ranging from almost female phenotype to almost male phenotype in a patient carrying a male 46,XY karyotype. The disorder is heterogeneous and associated with partial abnormality of both Leydig cell and Sertoli cell function that may result from deletions or point mutations in the SRY gene or dose sensitive sex (NR0B1) locus duplication on the X chromosome. More important are mutations in steroidogenic factor 1 (SF1, NR5A1, Ad4BP). SF-1 is a nuclear receptor and regulator of multiple genes involved in adrenal and gonadal development, steroidogenesis, and the reproductive axis. Therefore, affected patients may also have adrenal insufficiency. Syndromic forms have been associated with WT-1 mutations, which lead to variable testicular dysgenesis and an increased risk of renal abnormalities, namely Wilms tumours or nephrotic syndrome.|SNOMEDCT_US|N|
C4510745|Uses chair arms to get out of chair.|SNOMEDCT_US|N|
C4510752|This syndrome has characteristics of muscle and heart glycogen deficiency. It has been described in three siblings (two brothers and their younger sister). The older brother died at 10.5 years of age as a result of sudden cardiac arrest and the younger brother presented with hypertrophic cardiomyopathy, abnormal heart rate and blood pressure during exercise, and muscle fatigability. The sister showed no symptoms but a lack of glycogen was identified through muscle biopsy. The syndrome is caused by homozygous missense mutations in the gene encoding muscle glycogen synthase.|SNOMEDCT_US|N|
C4510753|A genetically inherited anomaly of glycogen metabolism and a form of glycogen storage disease characterised by fasting hypoglycaemia. It is an extremely rare disease; about 20 cases have been reported in the literature so far. The disease appears in infancy or in early childhood. Patients present with morning fatigue and fasting hypoglycaemia (without hepatomegaly) associated with hyperketonaemia but without hyperalaninaemia or hyperlactacidaemia. After meals, major hyperglycaemia associated with lactate and alanine increase and hyperlipidaemia is observed. Caused by mutations in the GYS2 gene (12p12.2). Transmission is autosomal recessive.|SNOMEDCT_US|N|
C4510764|This syndrome has characteristics of osteopetrosis, agenesis of the corpus callosum, cerebral atrophy and a small hippocampus. It has been described in a brother and a sister born to nonconsanguineous Caucasian parents. The children died at the ages of 1 and 9 months, respectively. Several additional cases combining axonal dystrophy and osteopetrosis have been described.|SNOMEDCT_US|N|
C4510798|An extremely rare genetic disorder with characteristics of the unique association of enchondromatosis with D-2 hydroxyglutaric aciduria. Clinical features include enchondromatosis (with short stature, severe metaphyseal dysplasia and mild vertebral involvement), elevated levels of urinary 2-hydroxyglutaric acid and mild developmental delay.|SNOMEDCT_US|N|
C4510809|Craniometadiaphyseal dysplasia (CRMDD) is characterized clinically by macrocephaly with frontal prominence, dental hypoplasia, and increased bone fragility. Diagnostic radiologic features include thin bones in the superior part of calvaria with prominent wormian bones, diaphyseal widening of the long tubular bones in early childhood with wide undermineralized metaphyses in older individuals, widened ribs and clavicles, and broadening of short tubular bones with increased transparency and thin cortices (summary by Dhar et al., 2010).|OMIM|N|
C4510810|An extremely rare type of enchondromatosis of very early onset (from neonatal period to infancy) with characteristics of symmetrical multiple enchondromas with metacarpal and phalangeal involvement resulting in short hands and feet, platyspondyly, mild to moderate short stature and intellectual disability.|SNOMEDCT_US|N|
C4510815|A rare hematologic disease due to defective platelet function and characterized by mucocutaneous bleeding starting in infancy (around 18 months of age), presenting with prolonged and severe epistaxis, hematoma and bleeding after tooth extraction. Massive menorrhagia and chronic anemia have also been reported.|SNOMEDCT_US|N|
C4510820|A history of a first-degree relative that has hyperlipidemia.|NCI|N|
C4510867|PELVIS is an acronym defining the association of Perineal hemangioma, External genitalia malformations, Lipomyelomeningocele, Vesicorenal abnormalities, Imperforate anus and Skin tag. Eleven cases have been reported.|SNOMEDCT_US|N|
C4510872|An extremely rare genetic congenital heart disease with the presence of atrial septal defect, mostly of the ostium secundum type, associated with conduction anomalies like atrioventricular block, atrial fibrillation or right bundle branch block. There is evidence this disease is caused by heterozygous mutation in the NKX2-5 gene on chromosome 5q35.|SNOMEDCT_US|N|
C4510873|A complex form of young-onset Parkinson disease that manifests with pyramidal signs, eye movement abnormalities, psychiatric manifestations (depression, anxiety, drug-induced psychosis, and impulse control disorders), intellectual disability, and other neurological symptoms (such as ataxia and epilepsy) along with classical parkinsonian symptoms. To date, only six families have been reported. Mutations in the genes ATP13A2 (1p36), PLA2G6 (22q13.1), FBXO7 (22q12.3), DNAJC6 (1p31.3), SPG11 (15q13-q15), SPG15 (14q24.1) and SYNJ1 (21q22.2) are associated with this disease. Usually occurs in an autosomal recessive manner however, sporadic cases have also been reported and the majority of these cases are born from consanguineous parents.|SNOMEDCT_US|N|
C4510874|An intermediate form of lichen myxoedematosus (a form of mucin dermal deposit) which does not meet the criteria for either scleromyxoedema or the localised form. Three clinical subtypes have been described and include scleromyxoedema without monoclonal gammopathy; localised forms with monoclonal gammopathy and/or systemic symptoms; localised forms with mixed features of the 5 subtypes of localised lichen myxoedematosus (discrete form, acral persistent papular mucinosis, self-healing papular mucinosis, papular mucinosis of infancy, and a pure nodular form). The course of atypical lichen myxoedematosus is unpredictable because only a few cases have been reported.|SNOMEDCT_US|N|
C4510875|A genetic variant of mendelian susceptibility to mycobacterial disease with characteristics of partial deficiency in IFN-gammaR2, leading to impaired response to IFN-gamma and consequently to recurrent moderately severe infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria. Caused by a heterozygous mutation in the IFNGR2 gene on chromosome 21q22.1-22.2 that encodes the IFN-gamma receptor ligand binding chain 2. The 186delC mutation corresponds to the first mutation conferring an AD partial IFN-gammaR2 deficiency.|SNOMEDCT_US|N|
C4510896|A life-threatening rapidly progressive thrombotic disorder affecting mainly neonates and children that has characteristics of purpuric skin lesions and disseminated intravascular coagulation. The disease may progress rapidly to multi-organ failure caused by thrombotic occlusion of small and medium-sized blood vessels. There are two forms of acquired purpura fulminans that are classified according to triggering mechanisms: acute infectious (the most common form) and idiopathic.|SNOMEDCT_US|N|
C4510897|Omodysplasia is a rare skeletal dysplasia characterised by severe limb shortening and facial dysmorphism. Two types of omodysplasia have been described: an autosomal recessive or generalised form (also referred to as micromelic dysplasia with dislocation of radius) marked by severe micromelic dwarfism with predominantly rhizomelic shortening of both the upper and lower limbs, and an autosomal dominant form in which stature is normal and shortening is limited to the upper limbs. In total, less than 40 cases of omodysplasia have been described in the literature so far, with the majority of reported cases concerning the autosomal recessive form of the disease. The aetiology remains unknown but a paternally inherited paracentric inversion of 15q13 to q21.3 has been detected in one family.|SNOMEDCT_US|N|
C4510939|An X-linked recessive retinal disease with characteristics of fundus hypopigmentation, decreased visual acuity, nystagmus, astigmatism, progressive axial myopia, defective dark adaptation and protanopia. A very rare disease originally reported in a family from Aland Island in the Bothnia Sea. Caused by mutations in the CACNA1F gene. Some mutations in CACNAF1 are associated with CSNB2 suggesting allelism of the two disorders.|SNOMEDCT_US|N|
C4510940|A rare autosomal recessively inherited disorder of ketone body metabolism, characterized clinically by episodes of decompensation (often associated with gastroenteritis or fasting) that present with vomiting, lethargy, hepatomegaly, non ketotic hypoglycemia and in rare cases coma. Patients are mostly asymptomatic between acute episodes. This disease requires an early diagnosis in order to avoid hypoglycemic crisis that can lead to permanent brain damage or death. Caused by homozygous or compound heterozygous mutation in the HMGCS2 gene on chromosome 1p12.|SNOMEDCT_US|N|
C4510941|A teratogenic disorder caused by exposure to retinoid during the first trimester of pregnancy, carrying a risk of fetal malformations of approximately 20%, including central nervous system, craniofacial, ear, thymic, cardiac and limb anomalies.|SNOMEDCT_US|N|
C4510945|A rare congenital hemorrhagic disorder characterized by mild to moderate bleeding diathesis with easy bruising, mucosal bleedings, and excessive post-operative hemorrhage due to defect of the platelet P2Y12 receptor resulting in selective impairment of platelet responses to adenosine diphosphate. Caused by mutations in the P2RY12 gene (3q24-q25) which result in the premature truncation of the P2Y12 receptor or in the synthesis of a dysfunctional P2Y12 receptor. Transmission is autosomal recessive.|SNOMEDCT_US|N|
C4510949|This syndrome is characterised by myoclonic epilepsy with generalised spasticity and intellectual deficit. It has been described in six males from two generations of one family. Transmission appears to be X-linked recessive and the syndrome is caused by mutations in the aristaless-related homeobox gene (ARX, Xp22.13).|SNOMEDCT_US|N|
C4510972|Estrogen resistance syndrome is a rare, genetic endocrine disease characterized by estrogen-receptor insensitivity to estrogens and the presence of elevated estrogen and gonadotropin serum levels. Clinical manifestations include absent breast development and primary amenorrhea in association with multicystic ovaries and/or hypoplastic uterus in female patients, normal or abnormal gonadal development in male patients and markedly delayed bone maturation, persistence of open epiphyses, reduced bone mineral density, and variable tall stature in both sexes. Glucose intolerance, hyperinsulinemia and lipid abnormalities may also be present.|ORPHANET|N|
C4511003|A distinct form of acute myeloid leukaemia in which this chromosomal anomaly is found de novo or in therapy-related cases. The disease is characterised by frequent extramedullary involvement (mainly hepatomegaly, splenomegaly, lymphadenopathies, cutaneous infiltration, but also gum, bone, central nervous system, testicles involvement), severe coagulation disorder (disseminated intravascular coagulopathy or primary fibrinolysis) and poor prognosis. Morphologically, a blast population with a myelomonocytic stage of differentiation is observed.|SNOMEDCT_US|N|
C4511004|An adult-onset movement disorder with characteristics of bradykinesia, dysarthria and muscle rigidity. To date the disease has been observed in seven individuals in one family. Onset of symptoms is in the fourth to fifth decade of life with mild progressive dysarthria and hypokinesia. Dysdiadochokinesia is also present and muscle tone is slightly increased. Dysfunction and changes of the striatal part of the basal ganglia are visible on magnetic resonance imaging. Caused by mutation in the PDE8B gene (5q13.3-q14.1) and transmitted in an autosomal dominant manner with complete penetrance in the investigated family.|SNOMEDCT_US|N|
C4511044|A subtype of dystrophic epidermolysis bullosa characterised by generalised cutaneous and mucosal blistering that is not associated with severe deformities.The disease manifests at birth or during the neonatal period with generalised blistering. Aplasia cutis congenita can also be observed at birth. The disease is caused by mutations within the type VII collagen gene (COL7A1) that lead to an alteration of function or a reduction in the amounts of collagen VII. This impairs collagen VII assembly into anchoring fibrils which anchor the basement membrane to the underlying dermis. This in turn causes reduced skin resistance to minor trauma. Transmission is autosomal recessive.|SNOMEDCT_US|N|
C4511046|A kyphotic deformity of the spine that develops in adolescence. The spinal deformity includes irregularities of the vertebral endplates, the presence of Schmorl''s nodes, disc-space narrowing and vertebral wedging. The disease is diagnosed using lateral radiographs of the spine. The thoracic spine is most often affected, but the lumbar spine may also be involved. Analysis of the mode of inheritance in a sample of 90 pedigrees derived from the Siberian population supported an autosomal dominant mode of inheritance with complete penetrance in boys and incomplete penetrance in girls.|SNOMEDCT_US|N|
C4511048|House allergic alveolitis is a hypersensitivity pneumonitis resulting from the inhalation of an antigen to which an individual has been previously sensitized in his/her domestic environment.|SNOMEDCT_US|N|
C4511053|Cirrhotic cardiomyopathy is the term used to describe a constellation of features indicative of abnormal heart structure and function in patients with cirrhosis. These include systolic and diastolic dysfunction, electrophysiological changes, and macroscopic and microscopic structural changes. Pathogenic mechanisms of cirrhotic cardiomyopathy are multiple and include abnormal membrane biophysical characteristics, impaired beta-adrenergic receptor signal transduction and increased activity of negative-inotropic pathways mediated by cGMP. The exact prognosis remains unclear. The extent of cirrhotic cardiomyopathy generally correlates to the degree of liver insufficiency. Reversibility is possible either pharmacological or after liver transplantation.|SNOMEDCT_US|N|
C4511056|Centripetalis recessive dystrophic epidermolysis bullosa (RDEB-Ce) is an extremely rare subtype of dystrophic epidermolysis bullosa (DEB), characterized by blistering which begins acrally and then progressively spreads toward the trunk.|MONDO|N|
C4511057|An early-onset form of dysferlinopathy presenting with postnatal hypotonia, weakness in the proximal lower limbs and neck flexor muscles at birth and delayed motor development. To date, two cases have been described. The disease is caused by a mutation in the dysferlin gene (DYSF) coding for a protein involved in membrane repair. Transmission is autosomal recessive.|SNOMEDCT_US|N|
C4511091|A genetic variant of mendelian susceptibility to mycobacterial diseases (MSMD) with characteristics of a partial deficiency in IFN-gammaR1, leading to a residual response to IFN-gamma and, consequently, to recurrent, moderately severe infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria. These infections are recurrent but less severe than those seen in MSMD due to complete IFN-gammaR1 and IFN-gammaR2 deficiencies. Caused by homozygous mutations in the IFNGR1 gene on chromosome 6q23-q24 that encodes the IFN-gamma receptor ligand binding chain. The most common mutation is, by far, I87T. This mutation leads to the expression of IFN-gamma receptors on the cell surface with no signal transduction capacity and they therefore only show a partial response to IFN-gamma. Transmission is autosomal recessive.|SNOMEDCT_US|N|
C4511097|A genetic variant of mendelian susceptibility to mycobacterial disease with characteristics of a partial deficiency leading to impaired IFN-gamma immunity and consequently recurrent moderately severe infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria. Caused by heterozygous mutations in the IFNGR1 gene on chromosome 6q23-q24 that encodes the IFN-gamma receptor ligand binding chain. Microdeletion 818del4 is by far the most common mutation and it corresponds to the first documented hotspot for a microdeletion in the human genome. It leads to the expression of IFN-gamma receptor on the cell surface with no signal transduction and therefore patients only show a partial response to IFN-gamma. Transmission is autosomal dominant.|SNOMEDCT_US|N|
C4511098|A genetic variant of mendelian susceptibility to mycobacterial diseases (MSMD) with characteristics of a partial deficiency in IFN-gammaR2, leading to a residual response to IFN-gamma and consequently to recurrent, moderately severe infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria. Only one patient has been reported with this variant to date. Caused by a homozygous mutation (R114C) in IFNGR2 on chromosome 21q22.1-22.2 that encodes the IFN-gamma receptor ligand binding chain. This mutation leads to a residual cellular response to IFN-gamma in terms of IL12p40 production. Transmission is autosomal recessive.|SNOMEDCT_US|N|
C4511136|Nongoitrous congenital hypothyroidism-7 (CHNG7) is characterized by normal-to-low T4 and normal-to-high thyrotropin (TSH; see 188540) levels, with reduced or absent pituitary responsiveness to thyrotropin-releasing hormone (TRH; 613879). Patients may exhibit short stature, growth retardation, and delayed bone age, as well as lethargy or fatigue (Collu et al., 1997; Bonomi et al., 2009).
For a general phenotypic description and a discussion of genetic heterogeneity of congenital nongoitrous hypothyroidism, see 275200.|OMIM|N|
C4511138|A rare mitochondrial disease with characteristics of adult onset of progressive external ophthalmoplegia, exercise intolerance, muscle weakness, manifestations of spinocerebellar ataxia (e.g. impaired gait, dysarthria) and mild motor peripheral neuropathy. Respiratory insufficiency has been reported in some cases.|SNOMEDCT_US|N|
C4511178|A very rare primary thymic carcinoma that resembles adenoid cystic carcinoma of the salivary gland.|NCI|N|
C4511230|A rare variant of autosomal recessive congenital ichthyosis. Less than 20 patients are reported in the literature. Large dark scales are present on warmer skin areas such as the trunk, the scalp, and the axillary region. On affected areas, the scales are similar to those observed in lamellar ichthyosis. Caused by specific thermo-sensitive mutations in the TGM1 gene (encoding transglutaminase 1, involved in the cornification of the stratum corneum). Affected skin areas, show a clearly reduced enzyme activity in contrast to healthy skin areas that demonstrate an almost normal enzyme activity. Transmission is autosomal recessive.|SNOMEDCT_US|N|
C4511232|A genetic disorder with characteristics of formation of bullae without traumatic origin, alopecia, hyperpigmentation, acrocyanosis, short stature, microcephaly, intellectual deficit, tapering fingers and nail abnormalities. Two families (one of whom was Dutch and the other Italian) have been described up to now, in which only males were affected. Transmission is X-linked recessive. The bullous dystrophy locus has been mapped to Xq26.3 in the Italian family and to Xq27.3 in the Dutch family.|SNOMEDCT_US|N|
C4511237|A patterned dystrophy of the retinal pigment epithelium with characteristics of abnormal accumulation of lipofuscin in a butterfly-shaped distribution at the retinal pigment epithelium level. Patients manifest with a slowly progressive loss of vision that often only becomes apparent in old age.|SNOMEDCT_US|N|
C4511238|Disease that is characterised by massive enteric protein loss, secretory diarrhoea and intolerance to enteral feeds during the first few weeks of life. It has been described in three male infants. Histochemical studies revealed a complete absence of enterocyte heparan sulphate. All three infants required total parenteral nutrition and repeated albumin infusions.|SNOMEDCT_US|N|
C4511239|A glomerular disease with characteristics of severe renal failure and nephrotic syndrome at birth, which rapidly improves in the first weeks of life. The disorder has been described in 15 infants from 5 families originating from Portugal, the Netherlands, Italy, Germany and Morocco. The disease is a congenital disorder where infants present at birth with nephrotic syndrome, acute renal failure (oligoanuria and proteinuria), or both. Respiratory distress and hypertension are also observed during the first days of life. Some degree of dysmorphism may be observed in some cases. Mothers do not show any renal manifestations. Caused by the transplacental transfer of nephritogenic anti-NEP antibodies (IgG1, IgG4 subtypes) from mothers with truncating mutations of the MME gene (3q25.2; coding for NEP), resulting in a functional knockout of MME.|SNOMEDCT_US|N|
C4511300|A form of epidermolysis bullosa simplex in which blistering occurs above the basal keratinocytes.|MONDO|N|
C4511302|An instance of lipodystrophy that is caused by an inherited genomic modification in an individual.|MONDO|N|
C4511307|A group of rare inherited non-syndromic ichthyoses characterized by mutations in keratin genes. Mutations in KRT1 and KRT10 cause most cases of epidermolytic ichthyosis (EI), as well as congenital reticular ichthyosiform erythroderma (CRIE). EI manifests at birth with generalized blistering, which later transforms into hyperkeratosis. Severe palmoplantar involvement is suggestive of the presence of a KRT1 mutation. CRIE patients present at birth with erythroderma and scaling, often with a collodion membrane, and gradually develop confetti-like clear areas of normal skin. KRT2 mutations are associated with superficial epidermolytic ichthyosis (SEI), which is clinically similar to EI, but generally milder and more localized.|ORDO|N|
C4511460|Diffuse large B-cell lymphoma with chronic inflammation is an Epstein-Barr virus-associated malignant lymphoproliferative disorder, developing in a context of long-standing or slow-growing, chronically inflamed lesions, such as chronic pyothorax, metallic implants in bones and joints, chronic osteomyelitis, chronic venous ulcer, or, rarely granulomatous inflammation. The tumor is usually primarily localized, with no involvement of other organs.|ORDO|N|
C4511481|A rare genetic bone development disorder characterised by normal clavicles and symmetrical generalised metaphyseal enchondromas particularly in the distal femur, proximal humerus, and bones of the wrists, hands, and feet. Lesions regress later in life with growth cartilage obliteration. Clinical examination is normal and the course of the disease is benign.|SNOMEDCT_US|N|
C4511482|Autosomal recessive myopathy with rigid spine and distal joint contractures (MRRSDC) is characterized by onset of slowly progressive muscle weakness in the first or second decades of life. There is initial involvement of the proximal lower limbs, followed by distal upper and lower limb muscle weakness and atrophy. Other features include joint contractures, rigid spine, and restricted pulmonary function; some patients may have mild cardiac involvement (summary by Kayman-Kurekci et al., 2014).|OMIM|N|
C4511483|A developmental anomaly characterized by an additional rectum that is typically lined with intestinal mucosa with one or more cell types of the gastrointestinal tract overlying submucosa and smooth muscle layer.|HPO|N|
C4511528|A form of familial primary hypomagnesaemia characterised by recurrent urinary tract infections, nephrolithiasis, bilateral nephrocalcinosis, renal magnesium wasting, hypercalciuria and kidney failure. This disease is characterised by impaired tubular reabsorption of magnesium and calcium in the thick ascending limb of Henle''s loop due to mutations in CLDN16 (3q27), which encodes claudin-16 (previously known as paracellin 1). A significant residual function is observed in several missense mutations, whereas a complete loss of claudin-16 function appears to be more severe with disease presenting earlier and often progressing to kidney failure at a significantly younger age. Transmission is autosomal recessive.|SNOMEDCT_US|N|
C4511620|Autosomal dominant medullary cystic kidney disease is a chronic tubulointerstitial nephropathy, which belongs to a heterogeneous group of inherited tubulo-interstitial nephritis. Less than 60 families affected have been described. Clinical onset and course are insidious. Symptoms typically appear at an average age of 28 years, when the urinary concentrating ability is markedly reduced, producing polyuria and stable low urinary osmolality in the first morning urine and lack of any compensatory effect after endonasal desmopressin. End-stage renal disease typically occurs in the third-fifth decade of life or even later. Two genes have been linked to the disease: MCKD1 (1q21) and MCKD2 (in 16p12, where the gene UMOD, encoding uromodulin or Tamm-Horsfall protein, has been identified as responsible of the disease).|SNOMEDCT_US|N|
C4511622|A rare inherited form of cutaneous melanoma with characteristics of development of histologically confirmed melanoma in two first degrees relatives or more relatives in an affected family. It is thought to account for about 10% of all cases of cutaneous melanoma. Tends to occur earlier than non-familial melanoma. The risk of familial melanoma is closely related to a wide range of genetic alterations in susceptibility genes but also appears to be influenced by phenotypic risk factors, such as pigmentation, freckling and sun reactions. Complex interactions between genetic and environmental factors are therefore thought to underlie the disease. The most common high-penetrance susceptibility gene implicated is CDKN2A, accounting for predisposition in approximately 20% of cases. In some affected families, susceptibility is consistent with autosomal dominant inheritance but in most cases, a polygenic mode of inheritance appears likely.|SNOMEDCT_US|N|
C4511633|Syndrome with the association of a non-progressive congenital ataxia, severe intellectual deficit, optic atrophy and structural anomalies of the skin vessels. It has been described in five children from a large consanguineous Lebanese family. Short stature and microcephaly were also reported. Transmission is autosomal recessive.|SNOMEDCT_US|N|
C4511644|A characteristic selective serotonin reuptake inhibitor (SSRI) discontinuation syndrome is usually mild, commences within 1 week of stopping treatment, resolves spontaneously within 3 weeks, and consists of diverse physical and psychological symptoms, the commonest being dizziness, nausea, lethargy and headache. SSRI reinstatement leads to resolution within 48 hours.|SNOMEDCT_US|N|
C4511668|A psychiatric disorder characterized by the personal experience of intense and prolonged yearning for, or preoccupation with the circumstances surrounding, a loss that leads to significant impairment in social or occupational functioning. Associated symptoms may include: identity disruption, disbelief, avoidance of reminders, difficulty moving on, emotional pain or numbness, feeling that life is meaningless, and loneliness.|NCI|N|
C4511687|Intraductal papillary mucinous neoplasm (IPMN) is an exocrine neoplasm of the pancreas consisting of epithelial cells growing within the pancreatic ducts (main pancreatic duct or its major branches) and producing mucin. IPMN is a mucin-producing pancreatic cystic tumor. IPMN contains epithelial cells that can create papillary projections.|HPO|N|
C4511693|The association of X-linked Alport syndrome with leiomyomatosis of the oesophagus, tracheobronchial tree or female genitals has been reported in more than 30 families. The disease is due to a deletion involving the 5'' terminal region of both COL4A5 and COL4A6 (as such, it forms a contiguous gene syndrome). Only the first two exons of COL4A6 are deleted but the extent of COL4A5 gene deletion is variable.|SNOMEDCT_US|N|
C4511700|Idiopathic syringomyelia is a rare, non-syndromic central nervous system malformation characterized by a longitudinally oriented fluid-filled cavity inside the spinal cord parenchyma or the central canal, without any readily identifiable cause. It is usually associated with pain, sensory and/or musculoskeletal disturbances, but it can also be an incidental and asymptomatic finding.|ORDO|N|
C4511908|An adenoma that arises from the glandular epithelium of the gastrointestinal tract and is associated with intestinal-type differentiation.|NCI|N|
C4511916|Disease with characteristics of slowly progressive pure cerebellar ataxia associated with dysarthria. It has been described in 53 individuals from 26 families of Canadian origin. The mode of transmission is autosomal recessive. Positional cloning has led to the identification of several gene mutations.|SNOMEDCT_US|N|
C4511963|MDDGC9 is an autosomal recessive muscular dystrophy showing onset in early childhood. It is part of a group of similar disorders resulting from defective glycosylation of DAG1, collectively known as 'dystroglycanopathies' (summary by Hara et al., 2011).
For a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type C, see MDDGC1 (609308).|OMIM|N|
C4511968|Syndrome with the association of ptosis, strabismus and ectopic pupils. It has been described in one family (in a mother and three of her children). Transmission is autosomal dominant.|SNOMEDCT_US|N|
C4511969|An extremely rare, complex form of hereditary spastic paraplegia with characteristics of slowly progressive spastic paraplegia (with increased muscle tone, decreased strength in the anterior tibial muscles and hyperreflexia in the lower extremities with Babinski sign) presenting in adulthood, associated with Paget disease of the bone. Cognitive decline, dementia and myopathic changes at muscle biopsy have not been reported. Mutations in the VCP gene (9p13.3), encoding transitional endoplasmic reticulum ATPase, have been found to be causative for this disease.|SNOMEDCT_US|N|
C4511971|Syndrome with characteristics of congenital scalp defects and postaxial polydactyly type A. It is an extremely rare condition. The syndrome has variable manifestations with one affected person with both congenital scalp defects and postaxial polydactyly type A, 4 people with scalp defects only and 3 people who had postaxial polydactyly only. Transmission is autosomal dominant.|SNOMEDCT_US|N|
C4512018|An acquired biliary tract disease caused by the abusive consumption of ketamine, which results in the fusiform dilatation of the common bile ducts without obstructive lesions or dilatation of the intrahepatic biliary ducts. Possible manifestations of the underlying cholangiopathy include epigastric pain and impaired liver function. Severity of the dilatation appears to correlate with the duration of ketamine consumption and the condition has been reported to be reversible in abstinent patients.|SNOMEDCT_US|N|
C4512024|This syndrome is characterised by progressive calcification of the brain and spinal cord, growth retardation, psychomotor anomalies, deafness and anaemia. Renal tubular acidosis was found in one patient. To date, this syndrome has been described in only two patients from one family.|SNOMEDCT_US|N|
C4512050|A rare mitochondrial substrate carrier disorder with characteristics of severe muscular hypotonia, seizures beginning in the first year of life and arrested psychomotor development (affecting mainly motor skills). Severe spasticity with hyperreflexia has also been reported. Global cerebral hypomyelination is a characteristic imaging feature of this disease.|SNOMEDCT_US|N|
C4512051|An extremely rare otorhinolaryngological malformation, which occurs during early embryogenesis. The disorder has characteristics of a single and on occasions multiple cystic lesion that is most frequently located in the anterior portion of the tongue, either deeply embedded within it or superficially on it. Depending mostly on size and location of the cyst, patients could be asymptomatic or could present a wide array of symptoms, such as varying degrees of respiratory and feeding difficulties, lingual swelling and protrusion, dysphagia, and more rarely, recurrent bleeding or brownish discharge from a lingual sinus.|SNOMEDCT_US|N|
C4512052|A multiple congenital anomaly syndrome with characteristics of sacral neural tube defects resulting in tethered cord, atrial and/or ventricular septal heart defects (that are detected in infancy), bilateral symmetrical hyperopia, rapidly progressive early childhood cataracts, bilateral aphakic glaucoma and abnormal facial features (low frontal hairline, small ears, short philtrum, prominent, widely spaced central incisors, and micrognathia). Hypotonia, growth and developmental delay, seizures and joint limitation are also reported.|SNOMEDCT_US|N|
C4512053|A rare genetic syndrome that results from the partial duplication of the short arm of chromosome 4. It has a highly variable phenotype, principally with characteristics of psychomotor and language delay, seizures and dysmorphic features such as high forehead with frontal bossing, hypertelorism, prominent glabella, long narrow palpebral fissures, low set ears and short neck. Eye abnormalities (glaucoma, irregular iris pigmentation, hyperopia) have also been reported.|SNOMEDCT_US|N|
C4512071|A rare X-linked intellectual disability syndrome characterized by intellectual disability (with severe speech impairment), a myxedematous appearance, dysmorphic facial features (including large head, synophrys, prominent supraorbital ridges, almond-shaped and deep-set eyes, large ears, wide mouth with everted lower lip and downturned lip corners), low posterior hairline, short, broad neck, marked general hirsutism and abnormal hair whorls, skin changes (e.g. dry skin or hypopigmented spots), widely spaced nipples, obesity, micropenis, onychodystrophy and seizures. Caused by mutation in the UBE2A gene on chromosome Xq24.|SNOMEDCT_US|N|
C4512072|A microdeletion syndrome resulting from a partial deletion of the chromosome X. The phenotype is highly variable (depending on length of deletion), but main manifestations include X linked ichthyosis, mild-moderate intellectual deficit, Kallmann syndrome, short stature, chondrodysplasia punctata and ocular albinism. Epilepsy, attention deficit-hyperactivity disorder, autism and difficulties with social communication can be associated.|SNOMEDCT_US|N|
C4512073|Syndrome with characteristics of intrauterine growth retardation and intermittent locking of the finger joints. It has been described in two individuals: a mother and her daughter. The mode of transmission is autosomal dominant.|SNOMEDCT_US|N|
C4517289|A rare mitochondrial disease with characteristics of exclusive skeletal muscle involvement without clinical evidence of other organ involvement. Disease manifestations are progressive limb weakness, proximal limb muscle atrophy and eye muscle anomalies (e.g. ocular motility restriction, ptosis). Patients may present with lactic acidosis, diffuse myalgia and overall fatigability (particularly during/after physical activities), dysphagia and diminished deep tendon reflexes.|SNOMEDCT_US|N|
C4517296|A rare genetic neurometabolic disease with characteristics of severe intellectual disability, spastic quadriparesis, Leber congenital amaurosis and diabetes insipidus. Additional manifestations include facial dysmorphy (dolichocephalic skull, hypertelorism, deep-set eyes, hypoplastic nares, low-set ears), short stature, truncal hypotonia and axial hypertonia. Brain anomalies (e.g. thin corpus callosum with lack of isthmus and tapered splenium, hypoplasia or atrophy of the optic chiasm, prominent lateral ventricles, diminished white matter) described on magnetic resonance imaging have been reported. High prenatal alpha fetoprotein and intrauterine growth restriction is observed in routine pregnancy examination.|SNOMEDCT_US|N|
C4517339|Syndrome with characteristics of cortical blindness, intellectual deficit and polydactyly. This combination was found in three children of first-cousin parents. The facial features included prominent forehead, short nose, long philtrum and microretrognathia. Two of the three children died of acute gastroenteritis. Growth and psychomotor development were severely delayed.|SNOMEDCT_US|N|
C4517371|Syndrome that is characterized by the association of marfanoid habitus with visceral diverticula. It has been reported in four adults and two siblings from a consanguineous marriage in two different publications. Pediatric cases also presented with diaphragmatic hernia. Other connective tissue disorders with visceral diverticula have been reported previously, suggesting a relationship between these two conditions.|SNOMEDCT_US|N|
C4517377|Neurodegeneration with brain iron accumulation refers to a group of neurodegenerative disorders characterized by progressive motor and cognitive dysfunction beginning in childhood or young adulthood. Patients show extrapyramidal motor signs, such as spasticity, dystonia, and parkinsonism. Brain imaging shows iron accumulation in the basal ganglia (summary by Dusi et al., 2014).
For a general phenotypic description and a discussion of genetic heterogeneity of NBIA, see NBIA1 (234200).|OMIM|N|
C4517996|Autosomal recessive limb-girdle muscular dystrophy-18 (LGMD18) is characterized by childhood-onset of proximal muscle weakness resulting in gait abnormalities and scapular winging. Serum creatine kinase is increased. A subset of patients may show a hyperkinetic movement disorder with chorea, ataxia, or dystonia and global developmental delay (summary by Bogershausen et al., 2013). Additional more variable features include alacrima, achalasia, cataracts, or hepatic steatosis (Liang et al., 2015; Koehler et al., 2017).
For a discussion of genetic heterogeneity of autosomal recessive limb-girdle muscular dystrophy, see LGMDR1 (253600).|OMIM|N|
C4518000|MDDGC14 is an autosomal recessive form of muscular dystrophy characterized by onset in early childhood of mild proximal muscle weakness. Some patients may have additional features, such as mild intellectual disability or seizures. It is part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1; 128239), collectively known as 'dystroglycanopathies' (summary by Carss et al., 2013). Some patients with GMPPB mutations may show features consistent with a congenital myasthenic syndrome (see, e.g., CMS1A; 601462), such as fatigability and decremental compound muscle action potential response to repetitive nerve stimulation; these patients may show a positive therapeutic response to treatment with pyridostigmine (Belaya et al., 2015).
For a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type C, see MDDGC1 (609308).|OMIM|N|
C4518077|Syndrome that is characterised by primary amenorrhoea, ambiguous external genitalia and bone abnormalities for example hypoplasia of the mandibular condyles, hypoplasia of the maxilla, ulnar dislocation of the radial heads. It has been described in two sisters born to consanguineous parents.|SNOMEDCT_US|N|
C4518078|A rare developmental defect during embryogenesis syndrome, with characteristics of normal female karyotype, normal ovaries, male or ambiguous genitalia, urinary tract malformations (ranging from bilateral renal agenesis to mild unilateral hydronephrosis), mullerian duct anomalies (for example complete absence of the uterus and vagina, bicornuate uterus) and imperforate anus.|SNOMEDCT_US|N|
C4518080|A form of congenital disorders of N-linked glycosylation with characteristics of distal arthrogryposis (mild flexion contractures of the fingers, deviation of the distal phalanges, swan-neck deformity), retro-micrognathia, general muscle hypotonia, delayed psychomotor development, autism spectrum disorder (speech delay, abnormal use of speech, difficulties in initiating, understanding and maintaining social interaction, limited non-verbal communication), seizures, microcephaly and mild to moderate intellectual disability that becomes apparent with age. The disease is caused by mutations in the gene SLC35A3 (1p21).|SNOMEDCT_US|N|
C4518082|A rare Y chromosome number anomaly that affects only males. The disease has characteristics of mild-moderate developmental delay (especially speech), normal to mild intellectual disability, large, irregular teeth with poor enamel, tall stature and acne. Radioulnar stenosis and clinodactyly have also been associated. Boys generally present normal genitalia, while hypogonadism and infertility is frequently reported in adult males.|SNOMEDCT_US|N|
C4518083|A rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome X. The disease has principle characteristics of classical Norrie disease (bilateral, severe retinal malformations and opacity of the lens leading to congenital blindness, on occasion associated with progressive sensorineural deafness and intellectual disability), microcephaly, hypotonia, psychomotor and growth delay and moderate to severe mental handicap. Clinical phenotype is highly variable and immunodeficiency, epilepsy and hypogonadism have also been reported.|SNOMEDCT_US|N|
C4518084|A rare syndromic intestinal malformation characterised by single or multiple smooth-walled, often tubular, cystic lesions, which on occasion contain ectopic gastric mucosa, located in the thorax (usually in the posterior mediastinum and to the right of the midline) and in the abdomen. Infants usually present with respiratory distress and older patients with heartburn, abdominal pain, vomiting and/or melaena. Vertebral anomalies in the lower cervical spine, with central nervous system involvement, are frequently present and complications, such as bowel obstruction, perforation and intussusception, have also been reported.|SNOMEDCT_US|N|
C4518085|An autosomal recessive form of serine deficiency. The infantile disease has clinical characteristics in the few reported cases of congenital microcephaly, psychomotor retardation and intractable seizures.|SNOMEDCT_US|N|
C4518086|An autosomal recessive form of serine deficiency. The juvenile disease has clinical characteristics in the few reported cases of absence seizures, moderate developmental delay and behavioral disorders.|SNOMEDCT_US|N|
C4518087|A very rare subtype of dystrophic epidermolysis bullosa with characteristics of blistering confined primarily to the hands and feet. The disease usually manifests during infancy with trauma-induced blisters limited to extremities. Healing of blisters is associated with milia formation, atrophic scarring and dystrophic nails. There is no extracutaneous involvement. Caused by mutations within the type VII collagen gene (COL7A1). Mutations in this gene lead to an alteration in function of collagen VII. This impairs its assembly into anchoring fibrils that anchor the basement membrane to the underlying dermis. Transmission is autosomal dominant (acral dominant dystrophic epidermolysis bullosa) or autosomal recessive (acral recessive dystrophic epidermolysis bullosa).|SNOMEDCT_US|N|
C4518090|This syndrome, associating familial adult medullary cystic disease with spastic quadriparesis has been described in two cases so far. Renal transplantation was successful in those two patients.|SNOMEDCT_US|N|
C4518194|An angiomyolipoma composed exclusively or predominantly of epithelioid cells. It is often associated with cytologic atypia and may recur or metastasize.|NCI|N|
C4518232|A rare form of primary cutaneous T-cell lymphoma characterized by rapidly progressing localized or disseminated nodules, tumors or eczematous skin lesions. It has a particularly aggressive clinical course with a high tendency to spread, in advanced stages, to extracutaneous locations (central nervous system, lung, testes). Lymph nodes are often spared.|SNOMEDCT_US|N|
C4518294|Active dental cariesCHAR(13)|HL7V3.0|N|
C4518324|Laminopathy, type Decaudain-Vigouroux is characterized by severe metabolic alterations (insulin resistance or hyperinsulinaemia, hypertriglyceridaemia with low HDL-cholesterol, and altered glucose tolerance) and muscular hypertrophy, myalgia, or weakness.|MONDO|N|
C4518325|Syndrome that is characterised by renal failure without haematuria, parathyroid hyperplasia and sensorineural deafness. It has been described in five children born to consanguineous parents. The mode of inheritance appears to be autosomal recessive.|SNOMEDCT_US|N|
C4518326|This syndrome has characteristics of neonatal diabetes mellitus associated with cerebellar and/or pancreatic agenesis. It has been described in four patients: two sisters and their female cousin belonging to a consanguineous Pakistani family, and one unrelated case (also born to consanguineous parents). Patients also present with facial dysmorphism (a triangular face, small chin, low set ears), flexion contractures of the arms and legs, very little subcutaneous fat and optic nerve hypoplasia. One of the patients had pancreatic agenesis and the others were suspected of having pancreatic hypoplasia. The syndrome is transmitted as an autosomal recessive disorder. It is caused by mutations in the PTF1A gene (10p12.3). Prenatal diagnosis is possible by demonstration of the absence of the cerebellum and severe intra-uterine growth retardation. All patients died in the neonatal period.|SNOMEDCT_US|N|
C4518328|Syndrome with characteristics of a specific natural-killer cell deficiency and susceptibility to viral diseases. It has been described in four children from a large inbred kindred. Three out of the four children reported developed a viral illness. The mode of transmission is most likely autosomal recessive. The causative gene is within a 12-Mb region on chromosome 8p11.23-q11.21.|SNOMEDCT_US|N|
C4518329|A very rare hereditary neurological dysmorphic syndrome with characteristics of moyamoya disease, short stature of postnatal onset and stereotypical facial dysmorphism. The syndrome is extremely rare and has been reported in three unrelated families to date, with 10 affected individuals in several generations. These families are not from Japan or Asia, whereas in general the incidence of moyamoya disease is highest in Japan and other Asian countries, in comparison with other parts of the world. Affected patients are all male (X-linked inheritance) and have moyamoya angiopathy (progressive stenosis of the terminal portion of the intracranial internal carotid arteries), short stature, hypergonadotropic hypogonadism and other variable manifestations. The genetic cause appears to involve Xq28 deletions removing MTCP1/CMC4 and BRCC3 (Xq28) .The specific pathophysiological mechanisms underlying this disorder remain obscure, but appear to involve alteration in DNA repair.|SNOMEDCT_US|N|
C4518330|An extremely rare syndromic retinitis pigmentosa characterised by pigmentary retinopathy, diabetes mellitus with hyperinsulinism, acanthosis nigricans, secondary cataracts, neurogenic deafness, short stature mild hypogonadism in males and polycystic ovaries with oligomenorrhoea in females. Inheritance is thought to be autosomal recessive. It can be distinguished from Alstrom syndrome by the presence of intellectual disability and the absence of renal insufficiency. There have been no further descriptions in the literature since 1993.|SNOMEDCT_US|N|
C4518333|A rare indolent subtype of clear cell renal carcinoma arising from epithelial cells in the renal cortex. It most frequently manifests with a well-circumscribed, well-encapsulated, unicentric, unilateral, small tumour that typically does not metastasize. Clinically it can present with flank or abdominal pain or haematuria, although most patients are usually asymptomatic at the time of diagnosis.|SNOMEDCT_US|N|
C4518334|A rare multiple developmental anomalies syndrome with characteristics of the triad of ectodermal dysplasia (mostly hypohidrotic with dry skin and reduced sweating and sparse, fair scalp hair, eyebrows and eyelashes), severe intellectual disability and variable central nervous system anomalies (cerebellar hypoplasia, dilatation of ventricles, corpus callosum agenesis, Dandy-Walker malformation). Distinct craniofacial dysmorphism with macrocephaly, frontal bossing, midfacial hypoplasia and high arched or cleft palate as well as cryptorchidism, feeding difficulties and hypotonia is associated. There have been no further descriptions in the literature since 1998.|SNOMEDCT_US|N|
C4518335|A rare genetic gastroenterological disease characterized by the early onset of chronic diarrhea, vomiting, anorexia, lactic acidosis, renal insufficiency and hepatic involvement (mild elevation of liver enzymes, steatosis, hepatomegaly). Partial villous atrophy (with eosinophilic infiltration) is observed on intestinal biopsy. Although diarrhea may resolve, the development of neurologic symptoms (cerebellar ataxia, sensorineural deafness, seizures), retinitis pigmentosa and muscle weakness may complicate disease course and lead to death. There have been no further descriptions in the literature since 1994.|SNOMEDCT_US|N|
C4518336|A very rare disease with characteristics of adult-onset unsteady gait and dysarthria, followed by wide-based gait, gait ataxia, ocular dysmetria, intention tremor, scanning speech, hyperreflexia and dysdiadochokinesis.|SNOMEDCT_US|N|
C4518337|Spinocerebellar ataxia type 38 (SCA38) is characterized as a pure cerebellar ataxia with symptoms typically manifesting in the fourth decade of life. The most common presenting features are nystagmus and slowly progressive gait ataxia. As the disease progresses, cerebellar symptoms (limb ataxia, dysarthria, dysphagia, diplopia on the horizontal line) may emerge, and affected individuals may experience sensory loss. In the later stages of the condition, ophthalmoparesis followed by ophthalmoplegia may occur. Features that distinguish SCA38 from other spinocerebellar ataxias include pes cavus without paresis, hyposmia, hearing loss, and anxiety disorder. Dementia and extrapyramidal signs are not common features of SCA38. Brain imaging typically demonstrates cerebellar atrophy mainly affecting the vermis without atrophy of the cerebral cortex and a normal appearance of the brain stem. With disease progression, nerve conduction velocities and electromyography demonstrate a sensory and motor axonal polyneuropathy in all four extremities. Life span is apparently not decreased.|GeneReviews|N|
C4518339|Non-hereditary degenerative ataxia with characteristics of slowly progressive cerebellar syndrome (with ataxia of stance and gait, upper limb dysmetria and intention tremor, ataxic speech, and oculomotor abnormalities), presenting in adulthood (at around 50 years of age), that is not due to a known cause. Extracerebellar symptoms (e.g., decreased vibration sense and absent or decreased ankle reflexes), polyneuropathy and mild autonomic dysfunction may also be present. Mild cognitive impairment has also rarely been reported.|SNOMEDCT_US|N|
C4518340|Intermediate anorectal malformation is a rare, genetic, non-syndromic subtype of anorectal malformation, resulting from a developmental defect during embryogenesis, characterized by a wide spectrum of anorectal anomalies lying between the pubococcygeal line and the ischial tuberosity (e.g., rectovestibular and rectovaginal fistulas in the female, rectobulbar fistula in the male, and anal agenesis). Patients may present with failure to pass meconium, failure to thrive, and recurrent urinary tract infections.|MONDO|N|
C4518341|Isolated congenital megalocornea is a genetic, non-syndromic developmental defect of the anterior eye segment. The disease has characteristics of bilateral enlargement of the corneal diameter and a deep anterior eye chamber, without an elevation in intraocular pressure. It can manifest with mild to moderate myopia as well as photophobia and iridodonesis (due to iris hypoplasia). Associated complications include lens dislocation, retinal detachment, presenile cataract development and secondary glaucoma. There is evidence this disease is caused by mutation in the CHRDL1 gene on chromosome Xq23.|SNOMEDCT_US|N|
C4518342|A rare Y chromosome number anomaly with a variable phenotype. The main characteristics of this disorder are moderate to severe intellectual disability, speech delay, hypotonia and mild dysmorphic features, including facial asymmetry, hypertelorism, bilateral low set ''lop'' ears, and micrognathia. Skeletal abnormalities (such as skull deformities, radioulnar synostosis, elbow flexion, clinodactyly, brachydactyly) have also been associated with this condition. Genitalia are normal at birth, although hypogonadism and azoospermia has been reported in adults.|SNOMEDCT_US|N|
C4518343|A rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 22 with a highly variable phenotype. The disease has characteristics of prematurity, pre and post-natal growth retardation, developmental delay (particularly speech), mild intellectual disability, variable cardiac defects and minor skeletal anomalies (such as clinodactyly). Dysmorphic features include prominent forehead, arched eyebrows, deep set eyes, narrow up slanting palpebral fissures, ear abnormalities, hypoplastic alae nasi, smooth philtrum, down-turned mouth, thin upper lip, retro/micrognathia and pointed chin.|SNOMEDCT_US|N|
C4518344|A rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 12 with a highly variable phenotype. The disorder has typical characteristics of developmental delay, learning disability, intrauterine and postnatal growth retardation, and mild facial dysmorphism that changes with age. Nasal speech and hypothyroidism are also associated.|SNOMEDCT_US|N|
C4518345|A rare genetic non-syndromic cranial nerve and nuclear aplasia malformation. The disease is characterised by the congenital absence of the optic chiasm, resulting from the failure of the optic nerve fibres to cross over and decussate to the contralateral hemisphere, leading to decreased vision, strabismus and congenital nystagmus in infancy.|SNOMEDCT_US|N|
C4518348|A benign pituitary gland neoplasm occurring separately from and without involvement of the sella turcica.|SNOMEDCT_US|N|
C4518349|A clinically benign intratubular neoplastic proliferation of large Sertoli cells in the testis. It is associated with prominent basement membrane deposits. It occurs almost exclusively in patients with Peutz-Jeghers syndrome.|NCI|N|
C4518356|MiT family translocation renal cell carcinoma (t-RCC) is a rare subtype of renal cell carcinoma with recurrent genetic abnormalities, harboring rearrangements of the <i>TFE3</i> (Xp11 t-RCC) or <i>TFEB</i> [t(6;11) t-RCC] genes. The t(6;11) t-RCC has distinctive histologic features of biphasic appearance with larger epitheloid and smaller eosinophilic cells. The symptoms are usually non-specific and include hematuria, flank pain, palpable abdominal mass and/or systemic symptoms of anemia, fatigue and fever.|ORDO|N|
C4518372|A sarcoma that arises from the lung. It is related to a bronchus and is often predominantly endobronchial. It is characterized by the proliferation of round and spindle cells within a myxoid stroma. It is associated with the presence of an EWSR1::CREB1 fusion gene.|NCI|N|
C4518377|A hemangiopericytoma without malignant morphologic or clinical characteristics.|NCI|N|
C4518430|This syndrome has characteristics of neutropenia with myeloid marrow hypoplasia, monocytopenia and congenital deafness. It has been described in three siblings who suffered recurrent bacterial infections.|SNOMEDCT_US|N|
C4518460|Midline cleft of lower lip is a rare anomaly defined as Cleft No. 30 in the Tessier classification. Less than 70 cases have been described worldwide. These cases show a broad variation in severity, ranging from a simple notch in the vermillion to a complete cleft of the lip involving the tongue, the chin, the mandible, the supporting structures of the median of the neck and the manubrium sterni. The tongue is often attached to the cleft alveolar margin (ankyloglossia). Other associated anomalies were described in a number of cases such as absence or underdevelopment of the hyoid bone and/or thyroid cartilage. The only known familial cases were reported in 1936 with 18 affected individuals spanning four generations.|SNOMEDCT_US|N|
C4518461|Syndrome with the association of intellectual deficit, microbrachycephaly, hypotelorism, palpebral ptosis, a thin/long face, cleft lip, and anomalies of the lumbar vertebra, sacrum and pelvis. It has been described in two Brazilian sisters. Transmission appears to be autosomal recessive.|SNOMEDCT_US|N|
C4518464|Syndrome with the association of microtia, eye coloboma and imperforation of the nasolacrimal duct. So far, it has been described in only one family. The phenotype is associated with the presence of five copies of a copy-number-variable region (CNV) located at 4pter. This is the first example of an amplified CNV being associated with a Mendelian disorder. Transmission is autosomal dominant.|SNOMEDCT_US|N|
C4518469|Idiopathic acute eosinophilic pneumonia (IAEP) is an eosinophilic pneumonia of undetermined etiology that is characterized by acute febrile hypoxic respiratory failure associated with diffuse radiographic infiltrates and pulmonary eosinophilia, but without concurring allergy or infection.|ORDO|N|
C4518478|The association of auricular abnormalities and cleft lip with or without cleft palate has been described in two siblings. One sibling had postauricular pits, profound myopia, nystagmus and retinal pigment abnormalities. The second sibling was a fetus (gestational age 23 weeks) with severe cleft lip, cleft palate and external ear abnormalities.|SNOMEDCT_US|N|
C4518538|This syndrome has characteristics of ichthyosis, unusual facies (small mouth with a thin upper lip and lower lip with a midline groove) and digital anomalies (tapered fingers with a lack of distal flexion creases and wide spacing between the second and third fingers). It has been described in two siblings born to first cousin parents. Transmission appears to be autosomal recessive.|SNOMEDCT_US|N|
C4518539|A type of metabolic myopathy described only in two sisters to date, presenting during childhood, and characterized clinically by growth failure, severe muscle weakness, and moderate sensorineural deafness and biochemically by metabolic acidosis, elevated serum pyruvate concentration, hyperalaninemia and hyperalaninuria. There have been no further descriptions in the literature since 1973.|SNOMEDCT_US|N|
C4518541|Syndrome with characteristics of hidrotic ectodermal dysplasia, sensorineural hearing loss and contracture of the fifth fingers. It has been described in brother and sister born to consanguineous parents. The girl also presented with thoracic scoliosis.|SNOMEDCT_US|N|
C4518542|The association of hallux varus with short thumbs and first toes (involving the metacarpals, metatarsals, and distal phalanges; the proximal and middle phalanges are of normal length) and abduction of the affected digits. The syndrome has been described in eight affected individuals from four successive generations of one family. Intellectual deficit was observed in all reported individuals. Transmission appears to be autosomal dominant.|SNOMEDCT_US|N|
C4518543|Syndrome with characteristics of precocious puberty (due to Leydig cell hyperplasia), progressive spastic paraplegia and intellectual deficit. It has been described in two brothers. The fact that other family members displayed brisk reflexes and dysarthria suggested autosomal dominant inheritance with variable expression.|SNOMEDCT_US|N|
C4518551|Syndrome that is characterized by the association of multiple sclerosis with lamellar ichthyosis and hematological anomalies (beta thalassemia minor and a quantitative deficit of factor VIII-von Willebrand complex). Other clinical manifestations may include eye involvement (optic atrophy, diplopia), neuromuscular involvement (ataxia, pyramidal syndrome, gait disturbance) and sensory disorder. There have been no further descriptions in the literature since 1992.|SNOMEDCT_US|N|
C4518553|Syndrome with the association of severe ulnar hypoplasia, absence of fingers two to five and split-foot. It has been described in four males belonging to two generations of the same family. X-linked recessive inheritance is suggested, but autosomal dominant transmission cannot be excluded.|SNOMEDCT_US|N|
C4518554|Syndrome with characteristics of intellectual deficit, epilepsy, palpebral conjunctival telangiectasias and diminished serum immunoglobulin antibody, particular facies and a shortened fifth finger. It has been reported in six siblings from a Mexican family. It is probably transmitted as an autosomal recessive trait.|SNOMEDCT_US|N|
C4518555|A rare bone developmental disorder belonging to a group of oromandibular limb hypogenesis syndromes. The major anomalies occurring commonly in this group are hypoplasia of the mandible, syndactyly and ectrodactyly, small mouth, cleft palate, hypodontia and facial paralysis. Patients with Charlie M syndrome also present with hypertelorism, absent or conically crowned incisors and variable degrees of hypodactyly of the hands and feet. There have been no further descriptions in the literature since 1976.|SNOMEDCT_US|N|
C4518558|Syndrome with characteristics of joint laxity, pectus carinatum and facial dysmorphism (mild frontal bossing, a beaked nose with a low nasal bridge, malar hypoplasia, chubby cheeks, a striking philtrum and arched upper lips). It has been described in two siblings. The mode of transmission is unknown.|SNOMEDCT_US|N|
C4518560|A syndrome of multiple congenital anomalies with characteristics of encephalopathy that predominantly occurs in the first year of life and presents as psychomotor delay. Additional features of the disease include moderate dysmorphia, craniosynostosis, dwarfism (due to growth hormone deficiency), intellectual disability, spasticity, ataxia, retinal degeneration and adrenal and uterine hypoplasia. The disease has been described in only two families, with each family having two affected siblings. An autosomal recessive inheritance has been suggested. There have been no further descriptions in the literature since 1991.|SNOMEDCT_US|N|
C4518561|Syndrome with characteristics of dysmorphism (including facial asymmetry, arched eyebrows, hypertelorism, broad and flat nasal bridge, microtia, small nose with anteverted nostrils, micrognathia), deafness, cleft palate, male pseudohermaphroditism and growth and psychomotor retardation. It has been described in two siblings. The disease is transmitted as an autosomal recessive trait.|SNOMEDCT_US|N|
C4518565|A very rare multiple congenital anomalies syndrome described in four siblings and with characteristics of intellectual deficit, flat face and some skeletal features of Marfan syndrome such as tall stature, dolichostenomelia, arm span larger than height, arachnodactyly of hands and feet, little subcutaneous fat, muscle hypotonia and intellectual deficit.|SNOMEDCT_US|N|
C4518566|Syndrome with the association of myoclonus, cerebellar ataxia and sensorineural hearing loss. So far, less than 10 cases have been reported in the literature. The hearing loss was generally diagnosed during childhood or early adulthood and the myoclonic jerks began during adolescence. Transmission appears to be autosomal dominant.|SNOMEDCT_US|N|
C4518567|A very rare constellation of multiple anomalies including absence or hypoplasia of the tibia. It has been described in 3 siblings (two males and one female). The syndrome has characteristics of the absence or hypoplasia of the tibia, pre and postaxial polydactyly of the hands and/or feet, syndactyly of the toes, shortening and bowing of other long bones, and retrocerebellar arachnoid cyst. Parental consanguinity reported in the family suggests an autosomal recessive pattern of inheritance.|SNOMEDCT_US|N|
C4518568|Syndrome with the association of congenital deafness, short stature, vitiligo, muscle wasting, and achalasia. It has been described in a brother and his sister born to first-cousin parents. It is likely to be transmitted as an autosomal recessive trait.|SNOMEDCT_US|N|
C4518569|Syndrome with characteristics of partial duplication of the eyebrows and syndactyly of the fingers and toes. It has been described in three patients (a brother and sister and an isolated case). Skin hyperelasticity, hypertrichosis and long eyelashes and abnormal periorbital wrinkling were also reported in some of the patients. Transmission is autosomal recessive.|SNOMEDCT_US|N|
C4518570|A locally invasive, papillary epithelial neoplasm arising in any area of the middle ear, including the mastoid process and air cells, and may fill the tympanic cavity. It is characterized by the presence of a papillary glandular pattern, with complex interdigitating papillae lying loosely or infiltrating fibrous connective tissue. (WHO 2017)|NCI|N|
C4518577|An extremely rare neurological disorder presumed to result from maldevelopment of the facial nucleus and/or cranial nerve reported in fewer than 10 families to date. It manifests as non-progressive, isolated, unilateral or bilateral, symmetrical or asymmetrical facial palsy. Involvement of the branches of the facial nerve can be unequal.|SNOMEDCT_US|N|
C4518578|Syndrome with characteristics of microcephaly, hypergonadotropic hypogonadism, short stature and facial dysmorphism (a narrow forehead, hypertrophy and fusion of the eyebrows, micrognathia and pinnae abnormalities). It has been described in five siblings (three males and two females) born to consanguineous parents. Additional congenital anomalies present in some of the patients included cubitus valgus and genu valgum. Early tooth loss was also reported. The mode of transmission appears to be autosomal recessive.|SNOMEDCT_US|N|
C4518580|Syndrome with characteristics of nonbullous congenital ichthyosis, intellectual deficit, dwarfism and renal impairment. It has been described in four members of one Iranian family. Transmission is autosomal recessive.|SNOMEDCT_US|N|
C4518585|An extremely rare syndrome reported in two siblings of non-consanguineous parents with the association of ocular abnormalities (partial aniridia, congenital glaucoma, telecanthus) with frontal bossing, hypertelorism, unilateral renal agenesis and mild psychomotor delay. There have been no further descriptions in the literature since 1974.|SNOMEDCT_US|N|
C4518624|A spectrum of disorders associated with long-term Aspergillus infection of the lung that usually occur in immunocompetent individuals with underlying respiratory disorders, and may be characterized by pulmonary fibrosis or cavitation.|NCI|N|
C4518639|This syndrome is characterized by onset of refractory focal seizures in the first year of life, with associated severe encephalopathy. Focal seizures arise independently in both hemispheres and can migrate from one cortical region to another randomly but consecutively in the same seizure. Seizures are often prolonged with episodes of status epilepticus. Prognosis is poor with severe neurological disability and reduced life expectancy, although a milder evolution has been reported in a few children.|MONDO|N|
C4518746|Mucinous adenocarcinoma of ovary is a rare, malignant epithelial tumor of the ovary characterized, macroscopically, by a large, usually unilateral tumor with smooth surface and evenly distributed cystic and solid areas and, histologically, by a complex papillary growth pattern with microscopic cystic glands and necrotic debris. Patients often present with pelvic pain and pressure, abdominal mass or gastrointestinal problems such as early satiety or bloating.|ORPHANET|N|
C4518772|An association reported in a single kindred with characteristics of the variable presence of the following features: anetoderma (macular atrophy of the skin), multiple exostoses and brachydactyly type E. There have been no further descriptions in the literature since 1985.|SNOMEDCT_US|N|
C4518773|Syndrome with characteristics of Dandy-Walker malformation, severe intellectual deficit, macrocephaly, brachytelephalangy, facial dysmorphism and severe myopia. Three cases have been described. Transmission appears to be autosomal recessive.|SNOMEDCT_US|N|
C4518774|An extremely rare genetic bone disorder with characteristics of the classic features of Joubert syndrome (i.e. malformation of the brainstem causing ataxia, hypotonia, cognitive impairment, and abnormal eye movements), associated with the skeletal anomalies found in Jeune asphyxiating thoracic dystrophy including short-rib dysplasia and narrow thorax causing respiratory failure, short limbs and metaphyseal changes.|SNOMEDCT_US|N|
C4518775|Syndrome with characteristics of metaphyseal dysplasia, short-limb dwarfism, mild intellectual deficit and conductive hearing loss, associated with repeated episodes of otitis media in childhood. It has been described in three brothers born to consanguineous Sicilian parents. Variable manifestations included hyperopia and strabismus. The mode of inheritance is autosomal recessive.|SNOMEDCT_US|N|
C4518776|An extremely rare autosomal dominant disorder reported in three British families, a Japanese and an Italian family (about 16 cases in total). Onset is usually in the fourth decade of life and the course lasts about 20 years. Reported clinical manifestations include diarrhea, nausea, autonomic failure (areflexia, weakness), neurogenic bladder and urinary infections. The disorder is caused by truncation mutations of the prion protein gene PRNP (20p13) leading to deposition of prion protein amyloid.|SNOMEDCT_US|N|
C4518781|An extremely rare autosomal recessive gastroenterological disorder reported in three families so far characterized by meconium ileus without any further stigmata of cystic fibrosis including pulmonary or pancreatic manifestations. Two of the reported patients developed chronic diarrhea in infancy. Homozygous mutations in the GUCY2C gene (12p12) leading to marked reduction or absence of enzymatic activity of guanylate cyclase 2C were found in the affected patients. The disease was reported to show partial penetrance.|SNOMEDCT_US|N|
C4518783|A form of congenital disorders of N-linked glycosylation with characteristics of intellectual disability, delayed motor development, hypotonia and truncal obesity. Additional features include slight facial dysmorphism (hypertelorism, downslanting palpebral fissures, large, low-set ears, hypoplastic nasolabial fold, thin upper lip), hypermobility of the joints and skin laxity. The disease is caused by mutations in the gene MAN1B1 (9q34.3).|SNOMEDCT_US|N|
C4518784|A peroxisomal neurodegenerative disorder with characteristics of spasmodic torticollis, dystonic head tremor, intention tremor, nystagmus, hyposmia, and hypergonadotropic hypogonadism with azoospermia. Slight cerebellar signs (left-sided intention tremor, balance and gait impairment) are also noted. Magnetic resonance imaging (MRI) shows bilateral hyperintense signals in the thalamus, butterfly-like lesions in the pons and lesions in the occipital region, whereas nerve conduction studies of the lower extremities shows a predominantly motor and slight sensory neuropathy. There is evidence this disease is caused by homozygous mutation in the SCP2 gene on chromosome 1p32.|SNOMEDCT_US|N|
C4518785|Junctional epidermolysis bullosa-7 with interstitial lung disease and nephrotic syndrome (JEB7), also known as ILNEB, is an autosomal recessive multiorgan disorder that includes congenital interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa. The respiratory and renal features predominate, and lung involvement accounts for the lethal course of the disease (summary by Has et al., 2012).|OMIM|N|
C4518786|Syndrome with characteristics of progressive spastic paraplegia, glaucoma and intellectual deficit. It has been described in two families. The second described sibship was born to consanguineous parents. The mode of inheritance is autosomal recessive.|SNOMEDCT_US|N|
C4518787|An association of the features of Ehlers-Danlos syndrome and osteogenesis imperfecta, characterized by generalized joint hypermobility and dislocations, skin hyperextensibility and/or translucency, and easy bruising as the predominant clinical features, while being invariably associated with mild signs of osteogenesis imperfecta, including short stature, blue sclera, and osteopenia or fractures.|SNOMEDCT_US|N|
C4518792|A congenital malformation syndrome with the association of a permanent camptodactyly of the fingers and the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966.|SNOMEDCT_US|N|
C4518793|An extremely rare genetic skin disease characterised by loss of elastin tissue leading to localised areas of flaccid skin and a family history of the disorder.|SNOMEDCT_US|N|
C4518794|Very rare syndrome with clinical characteristics of multiple fractures, wormian bones of the skull, dentinogenesis imperfecta and facial dysmorphism (hypertelorism, periorbital fullness). Although the signs are very similar to osteogenesis imperfecta, characteristic cortical defects in the absence of osteopenia and collagen abnormalities are considered to be distinctive. There have been no further descriptions in the literature since 1999.|SNOMEDCT_US|N|
C4518795|Syndrome with characteristics of intellectual deficit, marfanoid habitus, microcephaly, and glomerulonephritis. It has been described in two sisters.|SNOMEDCT_US|N|
C4518796|A rare chromosomal anomaly syndrome resulting from a partial duplication of the short arm of chromosome 16 and manifesting with a variable phenotype which includes: mild to moderate intellectual deficit and developmental delay (particularly speech), normal growth, short, proximally implanted thumbs and other hand and feet malformations (such as camptodactyly, syndactyly, club feet), mild arthrogryposis and characteristic facies (up slanting, narrow palpebral fissures, hypertelorism, mid face hypoplasia, bulbous nasal tip and low set ears).|SNOMEDCT_US|N|
C4518814|An observable entity of a parameter calculated by types of cardiac output monitor. SVV (%) = (SVmax - SVmin)/SVmean.|SNOMEDCT_US|N|
C4518821|A rare chromosomal anomaly syndrome resulting from the partial duplication of the short arm of chromosome 16. The disorder has a highly variable phenotype with typical characteristics of developmental/psychomotor delay (particularly of speech), intellectual disability, autism spectrum disorder, dysmorphic facial features (triangular face, deep set eyes, broad and prominent nasal bridge, up slanting or narrow palpebral features, hypertelorism). Additionally, finger/hand anomalies, short stature, microcephaly and slender build are frequently described.|SNOMEDCT_US|N|
C4518822|A rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 17. The disease is characterised by renal cystic disease, maturity onset diabetes of the young type 5 and neurodevelopmental disorders, such as cognitive impairment, developmental delay (particularly of speech), autistic traits and autism spectrum disorder. Mullerian aplasia in females, macrocephaly, mild facial dysmorphism (high forehead, deep set eyes and chubby cheeks) and transient hypercalcaemia has also been reported.|SNOMEDCT_US|N|
C4518823|A rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 20. The disorder has a highly variable phenotype with typical characteristics of hypotonia, intellectual disability, cognitive and language deficits (including decreased or absent speech), pre and post-natal growth retardation, feeding difficulties, microcephaly, and malformed hands and feet. Neurodevelopmental disorders (including hyperactivity, social interactive problems and autism spectrum disorder), seizures and dysmorphic facial features (high forehead, hypertelorism, malformed ears, broad nasal bridge, bulbous nasal tip, thin upper lip, small chin) are frequently associated.|SNOMEDCT_US|N|
C4518837|A rare subtype of acute myeloid leukemia with recurrent genetic abnormalities characterized by clonal proliferation of poorly differentiated myeloid blasts in the bone marrow, blood, or other tissues in patients who present the t(6;9)(p23;q34) translocation. Frequently associated with multilineage bone marrow dysplasia, it usually presents with anemia, thrombocytopenia (often pancytopenia), and other nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly). Basophilia, as well as poor response to chemotherapy, has been reported.|SNOMEDCT_US|N|
C4518838|An extremely rare multiple mitochondrial DNA deletion syndrome with markedly decreased deoxyguanosine kinase (DGUOK) activity in skeletal muscle. The disease has a highly variable phenotype. Clinical manifestations include progressive external ophthalmoplegia, mitochondrial myopathy, recurrent rhabdomyolysis, lower motor neuron disease, mild cognitive impairment, sensory axonal neuropathy, optic atrophy, ataxia, hypogonadism and/or parkinsonism.|SNOMEDCT_US|N|
C4518839|Combined oxidative phosphorylation deficiency-8 (COXPD8) is an autosomal recessive disorder caused by dysfunction of the mitochondrial respiratory chain. The main clinical manifestation is a lethal infantile hypertrophic cardiomyopathy, but there may also be subtle skeletal muscle and brain involvement. Biochemical studies show combined respiratory chain complex deficiencies in complexes I, III, and IV in cardiac muscle, skeletal muscle, and brain. The liver is not affected (summary by Gotz et al., 2011).
For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060).|OMIM|N|
C4518842|A rare autosomal dominant condition characterised by variable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphoedema of the lower limbs and mild to moderate intellectual disability. The exact prevalence is not known but the disorder is thought to be rare. The microcephaly is primary, and the severity is variable even within families. Mild to moderate learning difficulties are common. A characteristic facial phenotype including up slanting palpebral fissures, broad nose with rounded tip, anteverted nares, long philtrum with thin upper lip, and prominent chin and ears is well recognised. There is likely to be genetic heterogeneity. However, a significant proportion of cases are caused by mutations in the kinesin family member 11 (KIF11) gene (10q24.1). Inheritance is autosomal dominant with variable expression and reduced penetrance.|SNOMEDCT_US|N|
C4520679|A structural abnormality of the macula lutea, which is an oval-shaped highly pigmented yellow spot near the center of the retina.|HPO|N|
C4520714|Stage II includes: IIA: (T0, N1, M0); (T1, N1, M0); (T2, N0, M0) and IIB: (T2, N1, M0); (T3, N0, M0). T0: No evidence of primary tumor. T1: Tumor 2.0 cm or less in greatest dimension. T1 includes T1mi. T1mi: Tumor 1 mm or less in greatest dimension. T2: Tumor more than 2.0 cm but not more than 5.0 cm in greatest dimension. T3: Tumor more than 5.0 cm in greatest dimension. N1: Metastasis to movable ipsilateral axillary lymph node(s). M0: No distant metastasis. (AJCC 6th and 7th Eds.)|NCI|N|
C4520715|Stage I includes: T1, N0, M0. T1: Tumor 2 cm or less in greatest dimension. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th Eds.)|NCI|N|
C4520716|Stage II includes: (T2, N0, M0); (T3,N0, M0). T2: Tumor more than 2 cm but not more than 5 cm in greatest dimension. T3: Tumor more than 5 cm in greatest dimension. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th Eds.)|NCI|N|
C4520717|Stage III includes: IIIA (T1, N1, M0); (T2, N1, M0); (T3, N1, M0); (T4, N0, M0); IIIB (T4, N1, M0); (Any T, N2, M0); (Any T, N3, M0). T1: Tumor 2 cm or less in greatest dimension. T2: tumor more than 2 cm but not more than 5 cm in greatest dimension. T3: Tumor more than 5 cm in greatest dimension. T4: Tumor of any size that invades adjacent organ(s). N1: Metastasis in perirectal lymph node(s). N2: Metastasis in unilateral internal iliac and/or inguinal lymph node(s). N3: Metastasis in perirectal and inguinal lymph nodes and/or bilateral internal iliac and/or inguinal lymph nodes. M0: No distant metastasis. (AJCC 6th and 7th Eds.)|NCI|N|
C4520718|Stage I includes: (T1, N0, M0); (T2, N0, M0). T1: Tumor invades submucosa. T2: Tumor invades muscularis propria. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C4520719|Stage IIIA includes: (T1, N1, M0); (T2, N1, M0); (T3, N1, M0); (T4, N0, M0). T1: Tumor 2 cm or less in greatest dimension. T2: Tumor more than 2 cm but not more than 5 cm in greatest dimension. T3: Tumor more than 5 cm in greatest dimension. T4: Tumor of any size that invades adjacent organ(s). N1: Metastasis in perirectal lymph node(s). N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th Eds.)|NCI|N|
C4520720|Stage IIIB includes: (T4, N1, M0); (Any T, N2, M0); (Any T, N3, M0). T4: Tumor of any size that invades adjacent organ(s). N1: Metastasis in perirectal lymph node(s). N2: Metastasis in unilateral internal iliac and/or inguinal lymph node(s). N3: Metastasis in perirectal and inguinal lymph nodes and/or bilateral internal iliac and/or inguinal lymph nodes. M0: No distant metastasis. (AJCC 6th and 7th Eds.)|NCI|N|
C4520721|The reemergence of primary cutaneous T-cell non-Hodgkin lymphoma after a period of remission.|NCI|N|
C4520722|Stage I includes: IA (T1a, N0, M0, G1, GX); (T1b, N0, M0, G1, GX); IB (T2a, N0, M0, G1, GX); (T2b, N0, M0, G1, GX). T1a: Superficial tumor 5 cm or less in greatest dimension. T1b: Deep tumor 5 cm or less in greatest dimension. T2a: Superficial tumor more than 5 cm in greatest dimension. T2b: Deep tumor more than 5 cm in greatest dimension. N0: No regional lymph node metastasis. M0: No distant metastasis. G1: Grade 1. GX: Grade cannot be assessed. (AJCC 7th ed.)|NCI|N|
C4520723|Stage II includes: IIA (T1a, N0, M0, G2, G3); (T1b, N0, M0, G2, G3); IIB (T2a, N0, M0, G2); (T2b, N0, M0, G2). T1a: Superficial tumor 5 cm or less in greatest dimension. T1b: Deep tumor 5 cm or less in greatest dimension. T2a: Superficial tumor more than 5 cm in greatest dimension. T2b: Deep tumor more than 5 cm in greatest dimension. N0: No regional lymph node metastasis. M0: No distant metastasis. G2: Grade 2. G3: Grade 3. (AJCC 7th ed.)|NCI|N|
C4520725|Stage IV includes: Any T, Any N, M1, Any G. M1: Distant metastasis. (AJCC 7th ed.)|NCI|N|
C4520726|Stage I includes: T1, N0, M0. T1: Solitary tumor without vascular invasion. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C4520727|Stage II includes: T2, N0, M0. T2: Solitary tumor with vascular invasion or multiple tumors none more than 5 cm. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C4520728|Stage IV includes: IVA: (Any T, N1, M0); IVB: (Any T, Any N, M1). N1: Regional lymph node metastasis. M0: No distant metastasis. M1: Distant metastasis. (AJCC 7th ed.)|NCI|N|
C4520731|Stage II includes: IIA: (T2b, N0, M0); (T3a, N0, M0); IIB: (T3b, N0, M0); (T4a, N0, M0); IIC: (T4b, N0, M0). T2b: Cutaneous melanoma with a tumor measuring 1.01-2.0 mm in thickness, with ulceration. T3a: Cutaneous melanoma with a tumor measuring 2.01-4.0 mm in thickness, without ulceration. T3b: Cutaneous melanoma with a tumor measuring 2.01-4.0 mm in thickness, with ulceration. T4a: Cutaneous melanoma with a tumor measuring more than 4.0 mm in thickness, without ulceration. T4b: Cutaneous melanoma with a tumor measuring more than 4.0 mm in thickness, with ulceration. N0: No regional lymph node metastases. M0: No detectable evidence of distant metastases. (from AJCC 6th and 7th Eds.)|NCI|N|
C4520732|Stage IV includes: (Any T, Any N, M1). M1: Distant metastasis. (from AJCC 6th and 7th Eds.)|NCI|N|
C4520733|Stage II includes: IIA (T2a, N0, M0); IIB (T1, N1, M0), (T2, N1, M0), (T2a, N1, M0); (T2b, N0, M0); (T2b, N0, M0); (T2b, N1, M0). T2: Tumor extends to soft tissues. T2a: Tumor extends to the oropharynx and/or nasal cavity without parapharyngeal extension. T2b: Any tumor with parapharyngeal extension. N1: Unilateral metastasis in lymph node(s), 6 cm or less in greatest dimension, above the supraclavicular fossa. M0: No distant metastasis. (AJCC 6th ed.)|NCI|N|
C4520734|Stage 0 includes: Tis, N0, M0. Tis: Carcinoma in situ. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th, 7th, and 8th eds.)|NCI|N|
C4520735|Stage 0 includes: Tis, N0, M0. Tis: Carcinoma in situ. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th, 7th, and 8th eds.)|NCI|N|
C4520736|Stage 0 includes: Tis, N0, M0. Tis: Carcinoma in situ. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th, 7th, and 8th eds.)|NCI|N|
C4520737|Stage 0 includes: Tis, N0, M0. Tis: Carcinoma in situ. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th, 7th, and 8th eds.)|NCI|N|
C4520738|Stage 0 includes: Tis, N0, M0. Tis: Carcinoma in situ. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C4520739|Stage I includes: T1, N0, M0. T1: Tumor measuring 2 cm or less in greatest dimension without extraparenchymal extension. Extraparenchymal extension is clinical or macroscopic evidence of invasion of soft tissues. Microscopic evidence alone does not constitute extraparenchymal extension for classification purposes. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C4520740|Stage II includes: T2, N0, M0. T2: Tumor measuring more than 2 cm, but not more than 4 cm in greatest dimension without extraparenchymal extension. Extraparenchymal extension is clinical or macroscopic evidence of invasion of soft tissues. Microscopic evidence alone does not constitute extraparenchymal extension for classification purposes. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C4520741|Stage III includes: (T3, N0, M0); (T1, N1, M0); (T2, N1, M0); (T3, N1, M0). T3: Tumor measuring more than 4 cm in greatest dimension, and/or tumor having extraparenchymal extension. Extraparenchymal extension is clinical or macroscopic evidence of invasion of soft tissues. Microscopic evidence alone does not constitute extraparenchymal extension for classification purposes. T1: Tumor measuring 2 cm or less in greatest dimension without extraparenchymal extension. T2: Tumor measuring more than 2 cm, but not more than 4 cm in greatest dimension without extraparenchymal extension. N0: No regional lymph node metastasis. N1: Metastasis in a single ipsilateral lymph node, 3 cm or less in greatest dimension. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C4520742|Stage IV includes: IVA (T4a, N0, M0); (T4a, N1, M0); (T1, N2, M0); (T2, N2, M0); (T3, N2, M0); (T4a, N2, M0); IVB (T4b, Any N, M0); (Any T, N3, M0); IVC (Any T, Any N, M1). T4a: Moderately advanced disease. Tumor invades skin, mandible, ear canal, and/or facial nerve. T1: Tumor measuring 2 cm or less in greatest dimension without extraparenchymal extension. Extraparenchymal extension is clinical or macroscopic evidence of invasion of soft tissues. Microscopic evidence alone does not constitute extraparenchymal extension for classification purposes. T2: Tumor measuring more than 2 cm, but not more than 4 cm in greatest dimension without extraparenchymal extension. T3: Tumor measuring more than 4 cm in greatest dimension, and/or tumor having extraparenchymal extension. T4b: Very advanced disease. Tumor invades skull base and/or pterygoid plates and/or encases carotid artery. N0: No regional lymph node metastasis. N1: Metastasis in a single ipsilateral lymph node, 3 cm or less in greatest dimension. N2: Metastasis in a single ipsilateral lymph node, more than 3 cm but not more than 6 cm in greatest dimension, or in multiple ipsilateral lymph nodes, none more than 6 cm in greatest dimension, or in bilateral or contralateral lymph nodes, none more than 6 cm in greatest dimension. N3: Metastasis in a lymph node, more than 6 cm in greatest dimension. M0: No distant metastasis. M1: Distant metastasis. (AJCC 7th ed.)|NCI|N|
C4520744|Stage I includes: T1, N0, M0. T1: Tumor 2 cm or less in greatest dimension. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C4520745|Stage II includes: T2, N0, M0. T2: Tumor more than 2 cm but not more than 4 cm in greatest dimension. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C4520746|Stage III includes: (T3, N0, M0); (T1, N1, M0); (T2, N1, M0); (T3, N1, M0). T3: Tumor more than 4 cm in greatest dimension. N1: Metastasis in a single ipsilateral lymph node, 3 cm or less in greatest dimension. M0: No distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C4520747|Stage IV includes: IVA (T4a, N0, M0); (T4a, N1, M0); (T1, N2, M0); (T2, N2, M0); (T3, N2, M0); (T4a, N2, M0); IVB (Any T, N3, M0); (T4b, Any N, M0); IVC (Any T, Any N, M1). T4a (lip): Tumor invades through cortical bone, inferior alveolar nerve, floor of mouth, or skin of face, i.e., chin or nose. T4a (oral cavity): Tumor invades adjacent structures (e.g., through cortical bone, into deep [extrinsic] muscles of tongue, maxillary sinus, skin of face). T4b: Tumor invades masticator space, pterygoid plates, or skull base and/or encases internal carotid artery. N2: Metastasis in a single ipsilateral lymph node, more than 3 cm but not more than 6 cm in greatest dimension; or in multiple ipsilateral lymph nodes, none more than 6 cm in greatest dimension; or in bilateral or contralateral lymph nodes, none more than 6 cm in greatest dimension. N2a: Metastasis in a single ipsilateral lymph node more than 3 cm but not more than 6 cm in dimension. N2b: Metastasis in multiple ipsilateral lymph nodes, none more than 6 cm in greatest dimension. N2c: Metastasis in bilateral or contralateral lymph nodes, none more than 6 cm in greatest dimension. N3: Metastasis in a lymph node more than 6 cm in greatest dimension. M1: Distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C4520748|Stage I includes: T1, N0, M0. T1: Tumor limited to one subsite of the hypopharynx and 2 cm or less in greatest dimension. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th ed.)|NCI|N|
C4520749|Stage II includes: T2, N0, M0. T2: (Supraglottis) Tumor invades mucosa of more than one adjacent subsite of supraglottis or glottis or region outside the supraglottis (e.g., mucosa of base of tongue, vallecula, medial wall of pyriform sinus) without fixation of the larynx. (Glottis) Tumor extends to supraglottis and/or subglottis, and/or with impaired vocal cord mobility. (Subglottis) Tumor extends to vocal cord(s) with normal or impaired mobility. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C4520750|Stage III includes: (T3, N0, M0); (T1, N1, M0); (T2, N1, M0); (T3, N1, M0). T1: Supraglottis: Tumor limited to one subsite of supraglottis with normal vocal cord mobility. Glottis: Tumor limited to the vocal cord(s) (may involve anterior or posterior commissure) with normal mobility. Subglottis: Tumor limited to the subglottis. T2: Supraglottis: Tumor invades mucosa of more than one adjacent subsite of supraglottis or glottis or region outside the supraglottis (e.g., mucosa of base of tongue, vallecula, medial wall of pyriform sinus) without fixation of the larynx. Glottis: Tumor extends to supraglottis and/or subglottis, and/or with impaired vocal cord mobility. Subglottis: Tumor extends to vocal cord(s) with normal or impaired mobility. T3: Supraglottis: Tumor limited to larynx with vocal cord fixation and/or invades any of the following: postcricoid area, pre-epiglottic tissues, paraglottic space, and/or inner cortex of thyroid cartilage. Glottis: Tumor limited to the larynx with vocal cord fixation and/or invasion of paraglottic space, and/or inner cortex of the thyroid cartilage. Subglottis: Tumor limited to larynx with vocal cord fixation. N0: No regional lymph node metastasis. N1: Metastasis in a single ipsilateral lymph node, 3cm or less in greatest dimension. M0: No distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C4520751|Stage I includes: T1, N0, M0. T1: Maxillary sinus: Tumor limited to the maxillary sinus mucosa with no erosion or destruction of bone. Nasal cavity and ethmoid sinus: Tumor restricted to any one subsite, with or without bony invasion. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C4520752|Stage II includes: T2, N0, M0. T2: Maxillary sinus: Tumor causing bone erosion or destruction including extension into the hard palate and/or middle nasal meatus, except extension to posterior wall of maxillary sinus and pterygoid plates. Nasal cavity and ethmoid sinus: Tumor invading two subsites in a single region or extending to involve an adjacent region within the nasoethmoidal complex, with or without bony invasion. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th ed.)|NCI|N|
C4520753|Stage III includes: (T3, N0, M0); (T1, N1, M0); (T2, N1, M0); (T3, N1, M0). T3: Maxillary sinus: Tumor invading any of the following: bone of the posterior wall of maxillary sinus, subcutaneous tissues, floor or medial wall of orbit, pterygoid fossa, or ethmoid sinuses. Nasal cavity and ethmoid sinus: Tumor invading the medial wall or floor of the orbit, maxillary sinus, palate, or cribriform plate. T1: Maxillary sinus: Tumor limited to the maxillary sinus mucosa with no erosion or destruction of bone. Nasal cavity and ethmoid sinus: Tumor restricted to any one subsite, with or without bony invasion. T2: Maxillary sinus: Tumor causing bone erosion or destruction including extension into the hard palate and/or middle nasal meatus, except extension to posterior wall of maxillary sinus and pterygoid plates. Nasal cavity and ethmoid sinus: Tumor invading two subsites in a single region or extending to involve an adjacent region within the nasoethmoidal complex, with or without bony invasion. N0: No regional lymph node metastasis. N1: Metastasis in a single ipsilateral lymph node, 3 cm or less in greatest dimension. M0: No distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C4520754|Stage III includes: (T3, N0, M0); (T1, N1, M0); (T2, N1, M0); (T3, N2, M0). T3: Tumor more than 4 cm in greatest dimension. N1: Metastasis in a single ipsilateral lymph node, 3 cm or less in greatest dimension. N2: Metastasis in a single ipsilateral lymph node, more than 3 cm but not more than 6 cm in greatest dimension, or in multiple ipsilateral lymph nodes, none more than 6cm in greatest dimension, or in bilateral or contralateral lymph nodes, none more than 6cm in greatest dimension. M0: No distant metastasis. (AJCC 6th ed.)|NCI|N|
C4520755|Stage I includes: T1, N0, M0. T1: (Supraglottis) Tumor limited to one subsite of supraglottis with normal vocal cord mobility. (Glottis) Tumor limited to the vocal cord(s) (may involve anterior or posterior commissure) with normal mobility. (Subglottis) Tumor limited to the subglottis. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C4520756|Stage I includes: T1, N0, M0. T1: (Supraglottis) Tumor limited to one subsite of supraglottis with normal vocal cord mobility. (Glottis) Tumor limited to the vocal cord(s) (may involve anterior or posterior commissure) with normal mobility. (Subglottis) Tumor limited to the subglottis. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C4520757|Stage II includes: T2, N0, M0. T2: (Supraglottis) Tumor invades mucosa of more than one adjacent subsite of supraglottis or glottis or region outside the supraglottis (e.g., mucosa of base of tongue, vallecula, medial wall of pyriform sinus) without fixation of the larynx. (Glottis) Tumor extends to supraglottis and/or subglottis, and/or with impaired vocal cord mobility. (Subglottis) Tumor extends to vocal cord(s) with normal or impaired mobility. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C4520758|Stage II includes: T2, N0, M0. T2: (Supraglottis) Tumor invades mucosa of more than one adjacent subsite of supraglottis or glottis or region outside the supraglottis (e.g., mucosa of base of tongue, vallecula, medial wall of pyriform sinus) without fixation of the larynx. (Glottis) Tumor extends to supraglottis and/or subglottis, and/or with impaired vocal cord mobility. (Subglottis) Tumor extends to vocal cord(s) with normal or impaired mobility. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C4520759|Stage III includes: (T3, N0, M0); (T1, N1, M0); (T2, N1, M0); (T3, N1, M0). T1: Supraglottis: Tumor limited to one subsite of supraglottis with normal vocal cord mobility. Glottis: Tumor limited to the vocal cord(s) (may involve anterior or posterior commissure) with normal mobility. Subglottis: Tumor limited to the subglottis. T2: Supraglottis: Tumor invades mucosa of more than one adjacent subsite of supraglottis or glottis or region outside the supraglottis (e.g., mucosa of base of tongue, vallecula, medial wall of pyriform sinus) without fixation of the larynx. Glottis: Tumor extends to supraglottis and/or subglottis, and/or with impaired vocal cord mobility. Subglottis: Tumor extends to vocal cord(s) with normal or impaired mobility. T3: Supraglottis: Tumor limited to larynx with vocal cord fixation and/or invades any of the following: postcricoid area, pre-epiglottic tissues, paraglottic space, and/or inner cortex of thyroid cartilage. Glottis: Tumor limited to the larynx with vocal cord fixation and/or invasion of paraglottic space, and/or inner cortex of the thyroid cartilage. Subglottis: Tumor limited to larynx with vocal cord fixation. N0: No regional lymph node metastasis. N1: Metastasis in a single ipsilateral lymph node, 3cm or less in greatest dimension. M0: No distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C4520760|Stage III includes: (T3, N0, M0); (T1, N1, M0); (T2, N1, M0); (T3, N1, M0). T1: Supraglottis: Tumor limited to one subsite of supraglottis with normal vocal cord mobility. Glottis: Tumor limited to the vocal cord(s) (may involve anterior or posterior commissure) with normal mobility. Subglottis: Tumor limited to the subglottis. T2: Supraglottis: Tumor invades mucosa of more than one adjacent subsite of supraglottis or glottis or region outside the supraglottis (e.g., mucosa of base of tongue, vallecula, medial wall of pyriform sinus) without fixation of the larynx. Glottis: Tumor extends to supraglottis and/or subglottis, and/or with impaired vocal cord mobility. Subglottis: Tumor extends to vocal cord(s) with normal or impaired mobility. T3: Supraglottis: Tumor limited to larynx with vocal cord fixation and/or invades any of the following: postcricoid area, pre-epiglottic tissues, paraglottic space, and/or inner cortex of thyroid cartilage. Glottis: Tumor limited to the larynx with vocal cord fixation and/or invasion of paraglottic space, and/or inner cortex of the thyroid cartilage. Subglottis: Tumor limited to larynx with vocal cord fixation. N0: No regional lymph node metastasis. N1: Metastasis in a single ipsilateral lymph node, 3cm or less in greatest dimension. M0: No distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C4520761|Stage I includes: T1, N0, M0. T1: Maxillary sinus: Tumor limited to the maxillary sinus mucosa with no erosion or destruction of bone. Nasal cavity and ethmoid sinus: Tumor restricted to any one subsite, with or without bony invasion. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C4520762|Stage II includes: T2, N0, M0. T2: Maxillary sinus: Tumor causing bone erosion or destruction including extension into the hard palate and/or middle nasal meatus, except extension to posterior wall of maxillary sinus and pterygoid plates. Nasal cavity and ethmoid sinus: Tumor invading two subsites in a single region or extending to involve an adjacent region within the nasoethmoidal complex, with or without bony invasion. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th ed.)|NCI|N|
C4520763|Stage III includes: (T3, N0, M0); (T1, N1, M0); (T2, N1, M0); (T3, N1, M0). T3: Maxillary sinus: Tumor invading any of the following: bone of the posterior wall of maxillary sinus, subcutaneous tissues, floor or medial wall of orbit, pterygoid fossa, or ethmoid sinuses. Nasal cavity and ethmoid sinus: Tumor invading the medial wall or floor of the orbit, maxillary sinus, palate, or cribriform plate. T1: Maxillary sinus: Tumor limited to the maxillary sinus mucosa with no erosion or destruction of bone. Nasal cavity and ethmoid sinus: Tumor restricted to any one subsite, with or without bony invasion. T2: Maxillary sinus: Tumor causing bone erosion or destruction including extension into the hard palate and/or middle nasal meatus, except extension to posterior wall of maxillary sinus and pterygoid plates. Nasal cavity and ethmoid sinus: Tumor invading two subsites in a single region or extending to involve an adjacent region within the nasoethmoidal complex, with or without bony invasion. N0: No regional lymph node metastasis. N1: Metastasis in a single ipsilateral lymph node, 3 cm or less in greatest dimension. M0: No distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C4520764|Stage 0 includes: Tis, N0, M0. Tis: Melanoma in situ. N0: No regional lymph node metastases. M0: No detectable evidence of distant metastases. (from AJCC 6th and 7th Eds.)|NCI|N|
C4520768|Stage 0 includes: Tis, N0, M0. Tis: Carcinoma in situ: intraepithelial tumor without invasion of the lamina propria. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C4520769|Stage 0 includes: Tis, N0, M0. Tis: Carcinoma in situ: intraepithelial tumor without invasion of the lamina propria. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C4520770|Stage 0 includes: Tis, N0, M0. Tis: Carcinoma in situ: intraepithelial tumor without invasion of the lamina propria. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C4520771|Stage 0 includes: Tis, N0, M0. Tis: Carcinoma in situ: intraepithelial tumor without invasion of the lamina propria. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C4520772|Stage 0 includes: (Tis, N0, M0). Tis: Carcinoma in situ. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th Eds.)|NCI|N|
C4520773|Stage 0 includes: Tis, N0, M0. Tis: Carcinoma in situ. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C4520774|Stage IVB includes: Any T, Any N, M1. M1: distant metastasis (including pelvic lymph node metastasis). (AJCC 6th and 7th eds.)|NCI|N|
C4520775|Stage 0 includes: Tis, N0, M0. Tis: Carcinoma in situ. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C4520776|Stage 0 includes: Tis, N0, M0. Tis: Carcinoma in situ. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th, 7th, and 8th eds.)|NCI|N|
C4520777|Stage 0 includes: Tis, N0, M0. Tis: Carcinoma in situ. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th, 7th, and 8th eds.)|NCI|N|
C4520778|Stage 0 includes: Tis, N0, M0. Tis: Carcinoma in situ: intraepithelial or invasion of lamina propria. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C4520821|Stage 0 includes: Tis, N0, M0. Tis: Carcinoma in situ. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C4520822|Stage 0 includes: Tis, N0, M0. Tis: Carcinoma in situ: intraepithelial or invasion of lamina propria. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C4520824|Stage 0 includes: For squamous cell carcinoma: Tis (HGD), N0, M0, G1, GX, Tumor location: Any. For adenocarcinoma: Tis (HGD), N0, M0, G1, GX. Tis: High-grade dysplasia. N0: No regional lymph node metastasis. M0: No distant metastasis. G1: Well differentiated. GX: Grade cannot be assessed-stage grouping as G1. Tumor location: Location of the primary cancer site is defined by the position of the upper (proximal) edge of the tumor in the esophagus. (AJCC 7th ed.)|NCI|N|
C4520832|Stage 0 includes: Tis, N0, M0. Tis: Carcinoma in situ. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th Eds.)|NCI|N|
C4520833|Stage 0 includes: Tis, N0, M0. Tis: Carcinoma in situ: intraepithelial or invasion of the lamina propria. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C4520837|A benign or borderline neoplasm characterized by the presence of connective tissue stroma and epithelial structures. It occurs in the ovary, fallopian tube, uterine corpus, and cervix.|NCI|N|
C4520840|Acute erythroid leukemia characterised by the presence of at least 50% erythroid precursors and at least 20% myeloblasts in the bone marrow.|NCI|N|
C4520841|Acute erythroid leukemia characterized by the presence of immature erythroid cells in the bone marrow (at least 80% of the cellular component), without evidence of a significant myeloblastic cell population present.|NCI|N|
C4520843|Corneal pterygium is an ocular surface disease characterized mainly by a wing-shaped growth of limbal and conjunctival tissue over the adjacent cornea.|HPO|N|
C4520854|Stage I includes: (T1, N0, M0); (T2, N0, M0). T1: Tumor invades submucosa. T2: Tumor invades muscularis propria. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C4520855|Stage II includes: II (T2, N0, M0); IIA (T2a, N0, M0); IIB (T2b, N0, M0). T2: Tumor invades cervix but does not extend beyond uterus. T2a: Tumor limited to the glandular epithelium of the endocervix. There is no evidence of connective tissue stromal invasion. T2b: Invasion of the stromal connective tissue of the cervix. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th ed.)|NCI|N|
C4520856|Stage III includes: III (T3, N0, M0); IIIA (T3a, N0, M0); IIIB (T3b, N0, M0); IIIC (T1, N1, M0); (T2, N1, M0); (T3, N1, M0). T3: Local and/or regional spread as defined below. T3a: Tumor invades serosa and/or adnexa (direct extension or metastasis) and/or cancer cells in ascites or peritoneal washings. T3b Vaginal involvement (direct extension or metastasis). N0: No regional lymph node metastasis. N1: Regional lymph node metastasis to pelvic and/or para-aortic nodes. M0: No distant metastasis. (AJCC 6th ed.)|NCI|N|
C4520890|An intended site for a dose form that is for administration to the nose or nasal tissues.|SNOMEDCT_US|N|
C4520892|Otospondylomegaepiphyseal dysplasia (OSMED) is an inborn error of cartilage collagen formation characterized by sensorineural hearing loss, enlarged epiphyses, skeletal dysplasia with disproportionately short limbs, vertebral body anomalies and a characteristic facies.|ORDO|N|
C4520893|Stage 0 includes: Tis, N0, M0. Tis: Carcinoma in situ: intraepithelial or invasion of the lamina propria. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C4520894|Stage I includes: (T1, N0, M0); (T2, N0, M0). T1: Tumor invades submucosa. T2: Tumor invades muscularis propria. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C4520895|Stage 0 includes: Tis, N0, M0. Tis: Carcinoma in situ. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C4520896|Stage II includes: IIA: (T2b, N0, M0); (T3a, N0, M0); IIB: (T3b, N0, M0); (T4a, N0, M0); IIC: (T4b, N0, M0). T2b: Cutaneous melanoma with a tumor measuring 1.01-2.0 mm in thickness, with ulceration. T3a: Cutaneous melanoma with a tumor measuring 2.01-4.0 mm in thickness, without ulceration. T3b: Cutaneous melanoma with a tumor measuring 2.01-4.0 mm in thickness, with ulceration. T4a: Cutaneous melanoma with a tumor measuring more than 4.0 mm in thickness, without ulceration. T4b: Cutaneous melanoma with a tumor measuring more than 4.0 mm in thickness, with ulceration. N0: No regional lymph node metastases. M0: No detectable evidence of distant metastases. (from AJCC 6th and 7th Ed.)|NCI|N|
C4520897|Stage IV includes: (Any T, Any N, M1). M1: Distant metastasis. (from AJCC 6th and 7th Eds.)|NCI|N|
C4520898|Stage IV includes: Any T, Any N, M1. M1: Distant metastasis. (AJCC 6th and 7th Eds.)|NCI|N|
C4520899|Stage IV includes: (Any T, Any N, M1). M1: Distant metastasis. (AJCC 6th and 7th Eds.)|NCI|N|
C4520900|Stage 0 includes: Tis, N0, M0. Tis: Carcinoma in situ: intraepithelial or invasion of the lamina propria. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C4520901|Stage 0 includes: Tis, N0, M0. Tis: Carcinoma in situ. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th, 7th, and 8th eds.)|NCI|N|
C4520902|Stage 0 includes: Tis, N0, M0. Tis: Carcinoma in situ. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th, 7th, and 8th eds.)|NCI|N|
C4520903|Stage 0 includes: Tis, N0, M0. Tis: Carcinoma in situ. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C4520904|Stage 0 includes: Tis, N0, M0. Tis: Carcinoma in situ. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C4520919|Stage I includes: I (T1, N0, M0); IA: (T1a, N0, M0); IB (T1b, N0, M0); IC (T1c, N0, M0). T1: Tumor confined to corpus uteri. T1a: Tumor limited to the endometrium. T1b: Tumor invades less than one-half of the myometrium. T1c: Tumor invades one-half or more of the myometrium. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th ed.)|NCI|N|
C4520920|Stage IV includes: IVA: (T4, Any N, M0); IVB: (Any T, Any N, M1). T4: Tumor invades bladder mucosa and/or bowel mucosa (bullous edema is not sufficient to classify a tumor as T4). M1: Distant metastasis (includes metastasis to abdominal lymph nodes other than para-aortic, and/or inguinal lymph nodes: excludes metastasis to vagina, pelvic serosa, or adnexa). (AJCC 6th ed.)|NCI|N|
C4520921|Stage 0 includes: Tis, N0, M0. Tis: Carcinoma in situ: intraepithelial tumor without invasion of the lamina propria. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C4520922|Stage I includes: T1, N0, M0. T1: (Supraglottis) Tumor limited to one subsite of supraglottis with normal vocal cord mobility. (Glottis) Tumor limited to the vocal cord(s) (may involve anterior or posterior commissure) with normal mobility. (Subglottis) Tumor limited to the subglottis. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C4520954|Stage IV includes: IVA (T4, N0-1, M0); IVB (Any T, N2, M0); (Any T, Any N, M1). T4: Tumor invades the main portal vein or hepatic artery, or invades two or more extrahepatic organs or structures. N0: No regional lymph node metastasis. N1: Metastases to nodes along the cystic duct, common bile duct, hepatic artery, and/or portal vein. N2: Metastases to periaortic, pericaval, superior mesenteric artery, and/or celiac artery lymph nodes. M0: No distant metastasis. M1: Distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C4520964|Stage I includes: IA (T1, N0, M0); IB (T2, N0, M0). T1: Tumor limited to the pancreas 2 cm or less in greatest dimension. T2: Tumor limited to the pancreas, more than 2 cm in greatest dimension. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th Eds.)|NCI|N|
C4520965|Stage II includes: IIA (T3, N0, M0); IIB (T1, N1, M0); (T2, N1, M0); (T3, N1, M0). T1: Tumor limited to the pancreas 2 cm or less in greatest dimension. T2: Tumor limited to the pancreas, more than 2 cm in greatest dimension. T3: Tumor extends beyond the pancreas but without involvement of the celiac axis or the superior mesenteric artery. N0: No regional lymph node metastasis. N1: Regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th Eds.)|NCI|N|
C4520966|Stage III includes: T4, Any N, M0. T4: Tumor involves the celiac axis or the superior mesenteric artery. M0: No distant metastasis. (AJCC 6th and 7th Eds.)|NCI|N|
C4520974|Stage IV includes: IVA: (T4, N0, M0); (T4, N1, M0); (T4, N2, M0); IVB (Any T, N3, M0); IVC (Any T, Any N, M1). T4: Tumor with intracranial extension and/or involvement of cranial nerves, infratemporal fossa, hypopharynx, orbit, or masticator space. N3: Metastasis in a lymph node(s). N3a: greater than 6 cm in dimension. N3b: extension to the supraclavicular fossa. M1: Distant metastasis. (AJCC 6th ed.)|NCI|N|
C4520975|Stage IV includes: Any T, Any N, M1. M1: Distant metastasis. (AJCC 6th and 7th Eds.)|NCI|N|
C4520981|Abnormality of the basal ganglia.|HPO|N|
C4520983|Biliary atresia is a disorder of infants in which there is progressive obliteration or discontinuity of the extrahepatic biliary system, resulting in obstruction of bile flow. Untreated, the resulting cholestasis leads to progressive conjugated hyperbilirubinemia, cirrhosis, and hepatic failure (Bates et al., 1998). Most patients require liver transplantation within the first year of life (Leyva-Vega et al., 2010).
See also Alagille syndrome (118450), which includes biliary atresia as a feature.|OMIM|N|
C4520987|Stage 0 includes: Tis, N0, M0. Tis: Carcinoma in situ: intraepithelial tumor without invasion of the lamina propria. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C4520988|Stage 0 includes: Tis, N0, M0. Tis: Carcinoma in situ. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C4520989|Stage 0 includes: Tis, N0, M0. Tis: Carcinoma in situ. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th, 7th, and 8th eds.)|NCI|N|
C4520990|Stage 0 includes: Tis, N0, M0. Tis: Carcinoma in situ. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th, 7th, and 8th eds.)|NCI|N|
C4520991|Stage II includes: T2, N0, M0. T2: Solitary tumor with vascular invasion or multiple tumors none more than 5 cm. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C4520992|Stage IVB includes: (Any T, N3, M0); (T4b, Any N, M0). T4b: Lip cancer with very advanced local disease. Tumor invades masticator space, pterygoid plates, or skull base and/or encases internal carotid artery. N3: Metastasis in a lymph node more than 6 cm in greatest dimension. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C4520993|Stage I includes: T1, N0, M0. T1: Solitary tumor without vascular invasion. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C4521000|Stage I includes: (T1, N0, M0); (T2, N0, M0). T1: Tumor invades submucosa. T2: Tumor invades muscularis propria. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C4521001|Stage III includes: (T1, N2, M0); (T2, N2, M0); (T3, N0, M0); (T3, N1, M0); (T3, N2, M0). T1: Nasopharyngeal cancer with tumor confined to the nasopharynx, or tumor extending to oropharynx and/or nasal cavity without parapharyngeal extension. Parapharyngeal extension denotes posterolateral infiltration of tumor. T2: Nasopharyngeal cancer with parapharyngeal extension. Parapharyngeal extension denotes posterolateral infiltration of tumor. T3: Nasopharyngeal cancer with tumor involving bony structures of skull base and/or paranasal sinuses. N0: No regional lymph node metastasis. N1: Nasopharyngeal cancer with unilateral metastasis in cervical lymph node(s), 6 cm or less in greatest dimension, above the supraclavicular fossa, and/or unilateral or bilateral, retropharyngeal lymph nodes, 6 cm or less in greatest dimension. Midline nodes are considered ipsilateral nodes. N2: Nasopharyngeal cancer with bilateral metastasis in cervical lymph node(s), 6 cm or less in greatest dimension, above the supraclavicular fossa. Midline nodes are considered ipsilateral nodes. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C4521004|A rare type of juvenile idiopathic arthritis characterized by arthritis with an onset prior to the age of 16 years persisting for longer than six weeks and affecting at least five joints during the first six months of the disease. Other possible causes of joint inflammation must be excluded. Two subgroups of the disease can be distinguished, based on the presence of absence of rheumatoid factor. Both subgroups are more common in girls and may be associated with mild fever, weight loss, anemia, moderate hepatosplenomegaly, and mild growth retardation.|ORDO|N|
C4521006|An intended site for a dose form that is for administration to the cervix uteri.|SNOMEDCT_US|N|
C4521042|A syndrome characterized by the presence of three complete copies of genetic material for chromosome 21, instead of the normal two. It leads to a variety of abnormalities that include mental retardation, macroglossia, microgenia, epicanthic eyelids, and a single transverse palmar crease.|NCI|N|
C4521057|Stage IA includes: T1a, N0, M0. T1a: Tumor confined to the vulva and perineum, 2 cm or less in greatest dimension, and with stromal invasion no greater than 1 mm. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C4521058|Stage IB includes: T1b, N0, M0. T1b: Vulvar cancer with tumor size greater than 2 cm, or any size with stromal invasion more than 1.0 mm, confined to the vulva or perineum. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C4521060|Stage 0 includes: Tis, N0, M0. Tis: Carcinoma in situ. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th Eds.)|NCI|N|
C4521075|Body mass index percentile above the 85th and below the 95th percentile as compared to children of the same age and sex.|SNOMEDCT_US|N|
C4521096|An increased amount of tryptophan in the blood.|HPO|N|
C4521130|An intended site for a dose form that is for administration into the eyeball structure.|SNOMEDCT_US|N|
C4521228|Acute lymphoblastic leukemia that does not respond to treatment.|NCI|N|
C4521229|A subjective score of 6 on a visual analogue scale that ranges from 0: No Pain to 10: Excruciating.|NCI|N|
C4521274|Problems traced to inadequate design or complete lack of safety measures leading to device malfunction or unintended properties of the device including possible hazards for persons using the device.|NCI|N|
C4521275|Safety measures are inadequately applied or missing.|NCI|N|
C4521294|An intended site for a dose form that is for administration to the urethra.|SNOMEDCT_US|N|
C4521296|An intended site for a dose form that is for administration to the eye or eye structures.|SNOMEDCT_US|N|
C4521342|An intended site for a dose form that is for administration to the skin in order to obtain an effect after absorption through the skin barrier.|SNOMEDCT_US|N|
C4521343|An intended site for a dose form that is for administration to the vagina.|SNOMEDCT_US|N|
C4521420|pH lower than expected and/or anticipated.|NCI|N|
C4521440|An increase in the diameter of the ring (annulus) of the mitral valve.|HPO|N|
C4521446|A molecular abnormality characterized by rearrangement of a gene sequence that results in either aberrant gene expression or the translation of a novel protein.|NCI|N|
C4521455|A subjective score of 4 on a visual analogue scale that ranges from 0: No Pain to 10: Excruciating.|NCI|N|
C4521490|For hepatocellular carcinoma: Stage III includes: IIIA: (T3a, N0, M0); IIIB: (T3b, N0, M0); IIIC: (T4, N0, M0). T3a: Multiple tumors more than 5 cm. T3b: Single tumor or multiple tumors of any size involving a major branch of the portal vein or hepatic vein. T4: Tumors(s) with direct invasion of adjacent organs other than the gallbladder or with perforation of visceral peritoneum. N0: No regional lymph node metastasis. M0: No distant metastasis. For intrahepatic cholangiocarcinoma: Stage III includes: T3, N0, M0. T3: Tumor perforating the visceral peritoneum or involving the local extra hepatic structures by direct invasion. N0: No regional lymph node metastasis. M0: No distant metastasis. (from AJCC 7th Ed.)|NCI|N|
C4521491|For hepatocellular carcinoma: Stage IIIC includes: T4, N0, M0. T4: Tumors(s) with direct invasion of adjacent organs other than the gallbladder or with perforation of visceral peritoneum. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C4521520|A localized non-invasive adenocarcinoma of the lung measuring 3 cm or less. It is characterized by a pure lepidic growth pattern and the lack of stromal, vascular, or pleural invasion.|NCI|N|
C4521564|Fanconi anemia (FA) is characterized by physical abnormalities, bone marrow failure, and increased risk for malignancy. Physical abnormalities, present in approximately 75% of affected individuals, include one or more of the following: short stature, abnormal skin pigmentation, skeletal malformations of the upper and/or lower limbs, microcephaly, and ophthalmic and genitourinary tract anomalies. Progressive bone marrow failure with pancytopenia typically presents in the first decade, often initially with thrombocytopenia or leukopenia. The incidence of acute myeloid leukemia is 13% by age 50 years. Solid tumors – particularly of the head and neck, skin, and genitourinary tract – are more common in individuals with FA.|GeneReviews|N|
C4521576|A subjective score of 0 on a visual analogue scale that ranges from 0: No Pain to 10: Excruciating.|NCI|N|
C4521577|A subjective score of 1 on a visual analogue scale that ranges from 0: No Pain to 10: Excruciating.|NCI|N|
C4521607|Stage I includes: IA: (T1, N0, M0); IB: (T2 or T3, N0, M0). T1: Tumor limited to the ipsilateral parietal with or without involvement of visceral pleura, mediastinal pleura, and diaphragmatic pleura. T2: Tumor involving each of the ipsilateral pleural surfaces (parietal, mediastinal, diaphragmatic, and visceral pleura) with at least one of the following features: involvement of diaphragmatic muscle and/or extension of tumor from visceral pleura into the underlying pulmonary parenchyma. T3: Tumor is locally advanced but potentially resectable. The tumor involves all the ipsilateral pleural surfaces (parietal, mediastinal, diaphragmatic, and visceral pleura) with at least one of the following features: involvement of the endothoracic fascia, extension into the mediastinal fat, solitary, completely resectable focus of tumor extending into the soft tissues of the chest wall, and/or nontransmural involvement of the pericardium. N0: No regional lymph node metastases. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4521608|Stage IB includes: T2 or T3, N0, M0. T2: Tumor involving each of the ipsilateral pleural surfaces (parietal, mediastinal, diaphragmatic, and visceral pleura) with at least one of the following features: involvement of diaphragmatic muscle and/or extension of tumor from visceral pleura into the underlying pulmonary parenchyma. T3: Tumor is locally advanced but potentially resectable. The tumor involves all the ipsilateral pleural surfaces (parietal, mediastinal, diaphragmatic, and visceral pleura) with at least one of the following features: involvement of the endothoracic fascia, extension into the mediastinal fat, solitary, completely resectable focus of tumor extending into the soft tissues of the chest wall, and/or nontransmural involvement of the pericardium. N0: No regional lymph node metastases. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4521609|Stage II includes: (T1, N1, M0); (T2, N1, M0). T1: Tumor limited to the ipsilateral parietal with or without involvement of visceral pleura, mediastinal pleura, and diaphragmatic pleura. T2: Tumor involving each of the ipsilateral pleural surfaces (parietal, mediastinal, diaphragmatic, and visceral pleura) with at least one of the following features: involvement of diaphragmatic muscle and/or extension of tumor from visceral pleura into the underlying pulmonary parenchyma. N1: Metastases in the ipsilateral bronchopulmonary, hilar, or mediastinal (including the internal mammary, peridiaphragmatic, pericardial fat pad, or intercostal) lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4521610|Stage III includes: IIIA: (T3, N1, M0); IIIB: (T1-3, N2, M0); (T4, Any N, M0). T1: Tumor limited to the ipsilateral parietal with or without involvement of visceral pleura, mediastinal pleura, and diaphragmatic pleura. T2: Tumor involving each of the ipsilateral pleural surfaces (parietal, mediastinal, diaphragmatic, and visceral pleura) with at least one of the following features: involvement of diaphragmatic muscle and/or extension of tumor from visceral pleura into the underlying pulmonary parenchyma. T3: Tumor is locally advanced but potentially resectable. The tumor involves all the ipsilateral pleural surfaces (parietal, mediastinal, diaphragmatic, and visceral pleura) with at least one of the following features: involvement of the endothoracic fascia, extension into the mediastinal fat, solitary, completely resectable focus of tumor extending into the soft tissues of the chest wall, and/or nontransmural involvement of the pericardium. T4: Tumor is locally advanced and technically unresectable. The tumor involves all the ipsilateral pleural surfaces (parietal, mediastinal, diaphragmatic, and visceral pleura) with at least one of the following features: diffuse extension or multifocal masses of tumor in the chest wall, with or without associated rib destruction, direct transdiaphragmatic extension of tumor to the peritoneum, direct extension of tumor to the contralateral pleura, direct extension of tumor to mediastinal organs, direct extension of tumor into the spine, and/or tumor extending through to the internal surface of the pericardium with or without a pericardial effusion; or tumor involving the myocardium. N1: Metastases in the ipsilateral bronchopulmonary, hilar, or mediastinal (including the internal mammary, peridiaphragmatic, pericardial fat pad, or intercostal) lymph nodes. N2: Metastases in the contralateral mediastinal, ipsilateral, or contralateral supraclavicular lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4521611|Stage IV includes: Any T, Any N, M1. M1: Distant metastasis present. (AJCC 8th ed.)|NCI|N|
C4521612|Stage IA includes: T1, N0, M0. T1: Tumor limited to the ipsilateral parietal with or without involvement of visceral pleura, mediastinal pleura, and diaphragmatic pleura. N0: No regional lymph node metastases. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4521613|Stage I includes: IA: (T1, N0, M0, G1 or GX); IB: (T2, N0, M0, G1 or GX); (T3, N0, M0, G1 or GX). T1: Tumor measuring 8 cm or less in greatest dimension. T2: Tumor measuring more than 8 cm in greatest dimension. T3: Discontinuous tumors in the primary bone site. N0: No regional lymph node metastasis. M0: No distant metastasis. GX: Grade cannot be assessed. G1: Well differentiated, low grade. (AJCC 8th ed.)|NCI|N|
C4521614|Stage IA includes: T1, N0, M0, G1 or GX. T1: Tumor measuring 8 cm or less in greatest dimension. N0: No regional lymph node metastasis. M0: No distant metastasis. GX: Grade cannot be assessed. G1: Well differentiated, low grade. (AJCC 8th ed.)|NCI|N|
C4521615|Stage IB includes: (T2, N0, M0, G1 or GX); (T3, N0, M0, G1 or GX). T2: Tumor measuring more than 8 cm in greatest dimension. T3: Discontinuous tumors in the primary bone site. N0: No regional lymph node metastasis. M0: No distant metastasis. GX: Grade cannot be assessed. G1: Well differentiated, low grade. (AJCC 8th ed.)|NCI|N|
C4521616|Stage II includes: IIA: (T1, N0, M0, G2 or G3); IIB: (T2, N0, M0, G2 or G3). T1: Tumor measuring 8 cm or less in greatest dimension. T2: Tumor measuring more than 8 cm in greatest dimension. N0: No regional lymph node metastasis. M0: No distant metastasis. G2: Moderately differentiated, high grade. G3: Poorly differentiated, high grade. (AJCC 8th ed.)|NCI|N|
C4521617|Stage IIA includes: T1, N0, M0, G2 or G3. T1: Tumor measuring 8 cm or less in greatest dimension. N0: No regional lymph node metastasis. M0: No distant metastasis. G2: Moderately differentiated, high grade. G3: Poorly differentiated, high grade. (AJCC 8th ed.)|NCI|N|
C4521618|Stage IIB includes: T2, N0, M0, G2 or G3. T2: Tumor measuring more than 8 cm in greatest dimension. N0: No regional lymph node metastasis. M0: No distant metastasis. G2: Moderately differentiated, high grade. G3: Poorly differentiated, high grade. (AJCC 8th ed.)|NCI|N|
C4521619|Stage III includes: T3, N0, M0, G2 or G3. T3: Discontinuous tumors in the primary bone site. N0: No regional lymph node metastasis. M0: No distant metastasis. G2: Moderately differentiated, high grade. G3: Poorly differentiated, high grade. (AJCC 8th ed.)|NCI|N|
C4521620|Stage IV includes: IVA: (Any T, N0, M1a, Any G); IVB: (Any T, N1, Any M, Any G); (Any T, Any N, M1b, Any G). N0: No regional lymph node metastasis. N1: Regional lymph node metastasis. M1a: Metastasis in the lung. M1b: Metastasis in the bone or other distant sites. (AJCC 8th ed.)|NCI|N|
C4521621|Stage IVA includes: Any T, N0, M1a, Any G. N0: No regional lymph node metastasis. M1a: Metastasis in the lung. (AJCC 8th ed.)|NCI|N|
C4521622|Stage IVB includes: (Any T, N1, Any M, Any G); (Any T, Any N, M1b, Any G). N1: Regional lymph node metastasis. M1b: Metastasis in the bone or other distant sites. (AJCC 8th ed.)|NCI|N|
C4521623|Stage I includes: T1, N0, M0. T1: Maxillary sinus: Tumor limited to the maxillary sinus mucosa with no erosion or destruction of bone. Nasal cavity and ethmoid sinus: Tumor restricted to any one subsite, with or without bony invasion. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4521624|Stage II includes: T2, N0, M0. T2: Maxillary sinus: Tumor causing bone erosion or destruction including extension into the hard palate and/or middle nasal meatus, except extension to posterior wall of maxillary sinus and pterygoid plates. Nasal cavity and ethmoid sinus: Tumor invading two subsites in a single region or extending to involve an adjacent region within the nasoethmoidal complex, with or without bony invasion. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4521625|Stage III includes: (T3, N0, M0); (T1, N1, M0); (T2, N1, M0); (T3, N1, M0). T3: Maxillary sinus: Tumor invading any of the following: bone of the posterior wall of maxillary sinus, subcutaneous tissues, floor or medial wall of orbit, pterygoid fossa, or ethmoid sinuses. Nasal cavity and ethmoid sinus: Tumor invading the medial wall or floor of the orbit, maxillary sinus, palate, or cribriform plate. T1: Maxillary sinus: Tumor limited to the maxillary sinus mucosa with no erosion or destruction of bone. Nasal cavity and ethmoid sinus: Tumor restricted to any one subsite, with or without bony invasion. T2: Maxillary sinus: Tumor causing bone erosion or destruction including extension into the hard palate and/or middle nasal meatus, except extension to posterior wall of maxillary sinus and pterygoid plates. Nasal cavity and ethmoid sinus: Tumor invading two subsites in a single region or extending to involve an adjacent region within the nasoethmoidal complex, with or without bony invasion. N0: No regional lymph node metastasis. N1: Metastasis in a single ipsilateral lymph node, 3 cm or less in greatest dimension and ENE(-). M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4521626|Stage IV includes: IVA: (T4a, N0, M0); (T4a, N1, M0); (T1, N2, M0); (T2, N2, M0); (T3, N2, M0); (T4a, N2, M0); IVB: (T4b, Any N, M0); (Any T, N3, M0); IVC: (Any T, Any N, M1). T4a: Maxillary sinus: Moderately advanced local disease. Tumor invades anterior orbital contents, skin of cheek, pterygoid plates, infratemporal fossa, cribriform plate, sphenoid or frontal sinuses. Nasal cavity and ethmoid sinus: Moderately advanced local disease. Tumor invades any of the following: anterior orbital contents, skin of nose or cheek, minimal extension to anterior cranial fossa, pterygoid plates, sphenoid or frontal sinuses. T4b: Very advanced local disease. Tumor invades any of the following: orbital apex, dura, brain, middle cranial fossa, cranial nerves other than maxillary division of trigeminal nerve (V2), nasopharynx, or clivus. T1: Maxillary sinus: Tumor limited to the maxillary sinus mucosa with no erosion or destruction of bone. Nasal cavity and ethmoid sinus: Tumor restricted to any one subsite, with or without bony invasion. T2: Maxillary sinus: Tumor causing bone erosion or destruction including extension into the hard palate and/or middle nasal meatus, except extension to posterior wall of maxillary sinus and pterygoid plates. Nasal cavity and ethmoid sinus: Tumor invading two subsites in a single region or extending to involve an adjacent region within the nasoethmoidal complex, with or without bony invasion. T3: Maxillary sinus: Tumor invading any of the following: bone of the posterior wall of maxillary sinus, subcutaneous tissues, floor or medial wall of orbit, pterygoid fossa, or ethmoid sinuses. Nasal cavity and ethmoid sinus: Tumor invading the medial wall or floor of the orbit, maxillary sinus, palate, or cribriform plate. N0: No regional lymph node metastasis. N1: Metastasis in a single ipsilateral lymph node, 3 cm or less in greatest dimension and ENE(-). N2: Metastasis in a single ipsilateral lymph node, 3 cm or smaller in greatest dimension and ENE(+); or metastasis in a single ipsilateral lymph node larger than 3 cm but not larger than 6 cm in greatest dimension and ENE(-); or metastases in multiple ipsilateral lymph nodes , none larger than 6 cm in greatest dimension and ENE(-); or metastases in bilateral or contralateral lymph nodes, none larger than 6 cm in greatest dimension and ENE(-). N3: Metastasis in a lymph node larger than 6 cm in greatest dimension and ENE(-); or metastasis in a single ipsilateral node larger than 3 cm in greatest dimension and ENE(+); or metastases in multiple ipsilateral, contralateral or bilateral nodes, any with ENE(+). M0: No distant metastasis. M1: Distant metastasis. (AJCC 8th ed.)|NCI|N|
C4521627|Stage IVA includes: (T4a, N0, M0); (T4a, N1, M0); (T1, N2, M0); (T2, N2, M0); (T3, N2, M0); (T4a, N2, M0). T4a: Maxillary sinus: Moderately advanced local disease. Tumor invades anterior orbital contents, skin of cheek, pterygoid plates, infratemporal fossa, cribriform plate, sphenoid or frontal sinuses. Nasal cavity and ethmoid sinus: Moderately advanced local disease. Tumor invades any of the following: anterior orbital contents, skin of nose or cheek, minimal extension to anterior cranial fossa, pterygoid plates, sphenoid or frontal sinuses. T1: Maxillary sinus: Tumor limited to the maxillary sinus mucosa with no erosion or destruction of bone. Nasal cavity and ethmoid sinus: Tumor restricted to any one subsite, with or without bony invasion. T2: Maxillary sinus: Tumor causing bone erosion or destruction including extension into the hard palate and/or middle nasal meatus, except extension to posterior wall of maxillary sinus and pterygoid plates. Nasal cavity and ethmoid sinus: Tumor invading two subsites in a single region or extending to involve an adjacent region within the nasoethmoidal complex, with or without bony invasion. T3: Maxillary sinus: Tumor invading any of the following: bone of the posterior wall of maxillary sinus, subcutaneous tissues, floor or medial wall of orbit, pterygoid fossa, or ethmoid sinuses. Nasal cavity and ethmoid sinus: Tumor invading the medial wall or floor of the orbit, maxillary sinus, palate, or cribriform plate. N0: No regional lymph node metastasis. N1: Metastasis in a single ipsilateral lymph node, 3 cm or less in greatest dimension and ENE(-). N2: Metastasis in a single ipsilateral lymph node, 3 cm or smaller in greatest dimension and ENE(+); or metastasis in a single ipsilateral lymph node larger than 3 cm but not larger than 6 cm in greatest dimension and ENE(-); or metastases in multiple ipsilateral lymph nodes , none larger than 6 cm in greatest dimension and ENE(-); or metastases in bilateral or contralateral lymph nodes, none larger than 6 cm in greatest dimension and ENE(-). M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4521628|Stage IVB includes: (T4b, Any N, M0); (Any T, N3, M0). T4b: Very advanced local disease. Tumor invades any of the following: orbital apex, dura, brain, middle cranial fossa, cranial nerves other than maxillary division of trigeminal nerve (V2), nasopharynx, or clivus. N3: Metastasis in a lymph node larger than 6 cm in greatest dimension and ENE(-); or metastasis in a single ipsilateral node larger than 3 cm in greatest dimension and ENE(+); or metastases in multiple ipsilateral, contralateral or bilateral nodes, any with ENE(+). M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4521629|Stage IVC includes: Any T, Any N, M1. M1: Distant metastasis. (AJCC 8th ed.)|NCI|N|
C4521630|Stage I includes: T1, N0, M0. T1: Supraglottis: Tumor is limited to one subsite of supraglottis with normal vocal cord mobility. Glottis: Tumor is limited to the vocal cord(s) (may involve anterior or posterior commissure) with normal mobility. Subglottis: Tumor is limited to the subglottis. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4521631|Stage II includes: T2, N0, M0. T2: Supraglottis: Tumor invades the mucosa of more than one adjacent subsite of supraglottis or glottis or region outside the supraglottis (e.g., mucosa of base of the tongue, vallecula, medial wall of pyriform sinus) without fixation of the larynx. Glottis: Tumor extends to supraglottis and/or subglottis, and/or with impaired vocal cord mobility. Subglottis: Tumor extends to vocal cord(s) with normal or impaired mobility. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4521632|Stage III includes: (T3, N0, M0); (T1, N1, M0); (T2, N1, M0); (T3, N1, M0). T3: Supraglottis: Tumor is limited to larynx with vocal cord fixation and/or invades any of the following: postcricoid area, preepiglottic space, paraglottic space, and/or inner cortex of thyroid cartilage. Glottis: Tumor is limited to the larynx with vocal cord fixation and /or invades the paraglottic space, and/or inner cortex of the thyroid cartilage. Subglottis: Tumor is limited to the larynx with vocal cord fixation and/or invades the paraglottic space and/or inner cortex of the thyroid cartilage. T1: Supraglottis: Tumor is limited to one subsite of supraglottis with normal vocal cord mobility. Glottis: Tumor is limited to the vocal cord(s) (may involve anterior or posterior commissure) with normal mobility. Subglottis: Tumor is limited to the subglottis. T2: Supraglottis: Tumor invades the mucosa of more than one adjacent subsite of supraglottis or glottis or region outside the supraglottis (e.g., mucosa of base of the tongue, vallecula, medial wall of pyriform sinus) without fixation of the larynx. Glottis: Tumor extends to supraglottis and/or subglottis, and/or with impaired vocal cord mobility. Subglottis: Tumor extends to vocal cord(s) with normal or impaired mobility. N0: No regional lymph node metastasis. N1: Metastasis in a single ipsilateral lymph node, 3 cm or less in greatest dimension and ENE(-). M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4521633|Stage IV includes: IVA: (T4a, N0, M0); (T4a, N1, M0); (T1, N2, M0); (T2, N2, M0); (T3, N2, M0); (T4a, N2, M0); IVB: (Any T, N3, M0); (T4b, Any N, M0); IVC: (Any T, Any N, M1). T4a: Supraglottis: Moderately advanced local disease. Tumor invades through the outer cortex of the thyroid cartilage and/or invades tissues beyond the larynx (e.g., trachea, soft tissues of neck including deep extrinsic muscle of the tongue, strap muscles, thyroid, or esophagus). Glottis: Moderately advanced local disease. Tumor invades through the outer cortex of the thyroid cartilage and/or invades tissues beyond the larynx (e.g., trachea, cricoid cartilage, soft tissues of neck including deep extrinsic muscle of the tongue, strap muscles, thyroid, or esophagus). Subglottis: Moderately advanced local disease. Tumor invades cricoid or thyroid cartilage and/or invades tissues beyond the larynx (e.g., trachea, soft tissues of neck including deep extrinsic muscles of the tongue, strap muscles, thyroid, or esophagus). T3: Supraglottis: Tumor is limited to larynx with vocal cord fixation and/or invades any of the following: postcricoid area, preepiglottic space, paraglottic space, and/or inner cortex of thyroid cartilage. Glottis: Tumor is limited to the larynx with vocal cord fixation and /or invades the paraglottic space, and/or inner cortex of the thyroid cartilage. Subglottis: Tumor is limited to the larynx with vocal cord fixation and/or invades the paraglottic space and/or inner cortex of the thyroid cartilage. T1: Supraglottis: Tumor is limited to one subsite of supraglottis with normal vocal cord mobility. Glottis: Tumor is limited to the vocal cord(s) (may involve anterior or posterior commissure) with normal mobility. Subglottis: Tumor is limited to the subglottis. T2: Supraglottis: Tumor invades the mucosa of more than one adjacent subsite of supraglottis or glottis or region outside the supraglottis (e.g., mucosa of base of the tongue, vallecula, medial wall of pyriform sinus) without fixation of the larynx. Glottis: Tumor extends to supraglottis and/or subglottis, and/or with impaired vocal cord mobility. Subglottis: Tumor extends to vocal cord(s) with normal or impaired mobility. T4b: Supraglottis: Very advanced local disease. Tumor invades prevertebral space, encases carotid artery, or invades mediastinal structures. Glottis: Very advanced local disease. Tumor invades prevertebral space, encases carotid artery, or invades mediastinal structures. Subglottis: Very advanced local disease. Tumor invades prevertebral space, encases carotid artery, or invades mediastinal structures. N0: No regional lymph node metastasis. N1: Metastasis in a single ipsilateral lymph node, 3 cm or less in greatest dimension and ENE(-). N2: Metastasis in a single ipsilateral lymph node, 3 cm or less in greatest dimension and ENE(+); or metastasis in a single ipsilateral lymph node, more than 3 cm but not more than 6 cm in greatest dimension and ENE(-); or metastases in multiple ipsilateral lymph nodes, none more than 6 cm in greatest dimension and ENE(-); or metastasis in bilateral or contralateral lymph nodes, none more than 6 cm in greatest dimension and ENE(-). N3: metastasis in a lymph node, more than 6 cm in greatest dimension and ENE(-); or metastasis in a single ipsilateral lymph node, more than 3 cm in greatest dimension and ENE(+); or metastases in multiple ipsilateral, contralateral, or bilateral lymph nodes and any with ENE(+). M0: No distant metastasis. M1: distant metastasis. (AJCC 8th ed.)|NCI|N|
C4521634|Stage IVA includes: (T4a, N0, M0); (T4a, N1, M0); (T1, N2, M0); (T2, N2, M0); (T3, N2, M0); (T4a, N2, M0). T4a: Supraglottis: Moderately advanced local disease. Tumor invades through the outer cortex of the thyroid cartilage and/or invades tissues beyond the larynx (e.g., trachea, soft tissues of neck including deep extrinsic muscle of the tongue, strap muscles, thyroid, or esophagus). Glottis: Moderately advanced local disease. Tumor invades through the outer cortex of the thyroid cartilage and/or invades tissues beyond the larynx (e.g., trachea, cricoid cartilage, soft tissues of neck including deep extrinsic muscle of the tongue, strap muscles, thyroid, or esophagus). Subglottis: Moderately advanced local disease. Tumor invades cricoid or thyroid cartilage and/or invades tissues beyond the larynx (e.g., trachea, soft tissues of neck including deep extrinsic muscles of the tongue, strap muscles, thyroid, or esophagus). T3: Supraglottis: Tumor is limited to larynx with vocal cord fixation and/or invades any of the following: postcricoid area, preepiglottic space, paraglottic space, and/or inner cortex of thyroid cartilage. Glottis: Tumor is limited to the larynx with vocal cord fixation and /or invades the paraglottic space, and/or inner cortex of the thyroid cartilage. Subglottis: Tumor is limited to the larynx with vocal cord fixation and/or invades the paraglottic space and/or inner cortex of the thyroid cartilage. T1: Supraglottis: Tumor is limited to one subsite of supraglottis with normal vocal cord mobility. Glottis: Tumor is limited to the vocal cord(s) (may involve anterior or posterior commissure) with normal mobility. Subglottis: Tumor is limited to the subglottis. T2: Supraglottis: Tumor invades the mucosa of more than one adjacent subsite of supraglottis or glottis or region outside the supraglottis (e.g., mucosa of base of the tongue, vallecula, medial wall of pyriform sinus) without fixation of the larynx. Glottis: Tumor extends to supraglottis and/or subglottis, and/or with impaired vocal cord mobility. Subglottis: Tumor extends to vocal cord(s) with normal or impaired mobility. N0: No regional lymph node metastasis. N1: Metastasis in a single ipsilateral lymph node, 3 cm or less in greatest dimension and ENE(-). N2: Metastasis in a single ipsilateral lymph node, 3 cm or less in greatest dimension and ENE(+); or metastasis in a single ipsilateral lymph node, more than 3 cm but not more than 6 cm in greatest dimension and ENE(-); or metastases in multiple ipsilateral lymph nodes, none more than 6 cm in greatest dimension and ENE(-); or metastasis in bilateral or contralateral lymph nodes, none more than 6 cm in greatest dimension and ENE(-). M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4521635|Stage IVB includes: (Any T, N3, M0); (T4b, Any N, M0). T4b: Supraglottis: Very advanced local disease. Tumor invades prevertebral space, encases carotid artery, or invades mediastinal structures. Glottis: Very advanced local disease. Tumor invades prevertebral space, encases carotid artery, or invades mediastinal structures. Subglottis: Very advanced local disease. Tumor invades prevertebral space, encases carotid artery, or invades mediastinal structures. N3: metastasis in a lymph node, more than 6 cm in greatest dimension and ENE(-); or metastasis in a single ipsilateral lymph node, more than 3 cm in greatest dimension and ENE(+); or metastases in multiple ipsilateral, contralateral, or bilateral lymph nodes and any with ENE(+). M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4521636|Stage IVC includes: Any T, Any N, M1. M1: Distant metastasis. (AJCC 8th ed.)|NCI|N|
C4521637|Stage 0 includes: Tis, N0, M0. Tis: High-grade dysplasia, defined as malignant cells confined to the epithelium by the basement membrane. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4521638|Stage I includes: T1, N0, M0. T1: Tumor invades the lamina propria, muscularis mucosae, or submucosa. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4521639|Stage II includes: IIA: T1, N1, M0; IIB: T2, N0, M0. T1: Tumor invades the lamina propria, muscularis mucosae, or submucosa. T2: Tumor invades the muscularis propria. N0: No regional lymph node metastasis. N1: Tumor with metastasis in one or two regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4521640|Stage IIA includes: T1, N1, M0. T1: Tumor invades the lamina propria, muscularis mucosae, or submucosa. N1: Tumor with metastasis in one or two regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4521641|Stage IIB includes: T2, N0, M0. T2: Tumor invades the muscularis propria. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4521642|Stage III includes: (T2, N1, M0); (T3, N0-1, M0); (T4a, N0-1, M0). T2: Tumor invades the muscularis propria. T3: Tumor invades adventitia. T4a: Tumor invades the pleura, pericardium, azygos vein, diaphragm, or peritoneum N0: No regional lymph node metastasis. N1: Tumor with metastasis in one or two regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4521643|Stage IV includes: IVA: (T1-4a, N2, M0); (T4b, N0-2, M0); (Any T, N3, M0); IVB: (Any T, Any N, M1). T1: Tumor invades the lamina propria, muscularis mucosae, or submucosa. T2: Tumor invades the muscularis propria. T3: Tumor invades adventitia. T4a: Tumor invades the pleura, pericardium, azygos vein, diaphragm, or peritoneum. T4b: Tumor invades other adjacent structures, such as the aorta, vertebral body, or airway. N0: No regional lymph node metastasis. N1: Tumor with metastasis in one or two regional lymph nodes. N2: Tumor with metastasis in three to six regional lymph nodes. N3: Tumor with metastasis in seven or more regional lymph nodes. M0: No distant metastasis. M1: Distant metastasis. (AJCC 8th ed.)|NCI|N|
C4521644|Stage IVA includes: (T1-4a, N2, M0); (T4b, N0-2, M0); (Any T, N3, M0). T1: Tumor invades the lamina propria, muscularis mucosae, or submucosa. T2: Tumor invades the muscularis propria. T3: Tumor invades adventitia. T4a: Tumor invades the pleura, pericardium, azygos vein, diaphragm, or peritoneum. T4b: Tumor invades other adjacent structures, such as the aorta, vertebral body, or airway. N0: No regional lymph node metastasis. N1: Tumor with metastasis in one or two regional lymph nodes. N2: Tumor with metastasis in three to six regional lymph nodes. N3: Tumor with metastasis in seven or more regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4521645|Stage IVB includes: Any T, Any N, M1. M1: Distant metastasis. (AJCC 8th ed.)|NCI|N|
C4521646|Stage 0 includes: Tis, N0, M0, GN/A. Tis: High-grade dysplasia, defined as malignant cells confined to the epithelium by the basement membrane. N0: No regional lymph node metastasis. M0: No distant metastasis. GN/A: Grade non-applicable. (AJCC 8th ed.)|NCI|N|
C4521647|Stage I includes: IA: (T1a, N0, M0, G1); (T1a, N0, M0, GX); IB: (T1a, N0, M0, G2); (T1b, N0, M0, G1-2); (T1b, N0, M0, GX); IC: (T1, N0, M0, G3); (T2, N0, M0, G1-2). T1a: Tumor invades the lamina propria or muscularis mucosae. T1b: Tumor invades the submucosa. T1: Tumor invades the lamina propria, muscularis mucosae, or submucosa. T2: Tumor invades the muscularis propria. N0: No regional lymph node metastasis. M0: No distant metastasis. G1: Well-differentiated. GX: Grade cannot be assessed. G2: Moderately differentiated. G3: Poorly differentiated, undifferentiated. (AJCC 8th ed.)|NCI|N|
C4521648|Stage IA includes: (T1a, N0, M0, G1); (T1a, N0, M0, GX). T1a: Tumor invades the lamina propria or muscularis mucosae. N0: No regional lymph node metastasis. M0: No distant metastasis. G1: Well-differentiated. GX: Grade cannot be assessed. (AJCC 8th ed.)|NCI|N|
C4521649|Stage IB includes: (T1a, N0, M0, G2); (T1b, N0, M0, G1-2); (T1b, N0, M0, GX). T1a: Tumor invades the lamina propria or muscularis mucosae. T1b: Tumor invades the submucosa. N0: No regional lymph node metastasis. M0: No distant metastasis. G1: Well-differentiated. GX: Grade cannot be assessed. G2: Moderately differentiated. (AJCC 8th ed.)|NCI|N|
C4521650|Stage II includes: IIA: (T2, N0, M0, G3); (T2, N0, M0, GX); IIB: (T1, N1, M0, Any G); (T3, N0, M0, Any G). T2: Tumor invades the muscularis propria. T1: Tumor invades the lamina propria, muscularis mucosae, or submucosa. T3: Tumor invades adventitia. N0: No regional lymph node metastasis. N1: Tumor with metastasis in one or two regional lymph nodes. M0: No distant metastasis. GX: Grade cannot be assessed. G3: Poorly differentiated, undifferentiated. (AJCC 8th ed.)|NCI|N|
C4521651|Stage IIA includes: (T2, N0, M0, G3); (T2, N0, M0, GX). T2: Tumor invades the muscularis propria. N0: No regional lymph node metastasis. M0: No distant metastasis. GX: Grade cannot be assessed. G3: Poorly differentiated, undifferentiated. (AJCC 8th ed.)|NCI|N|
C4521652|Stage IIB includes: (T1, N1, M0, Any G); (T3, N0, M0, Any G). T1: Tumor invades the lamina propria, muscularis mucosae, or submucosa. T3: Tumor invades adventitia. N0: No regional lymph node metastasis. N1: Tumor with metastasis in one or two regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4521653|Stage III includes: IIIA: (T1, N2, M0, Any G); (T2, N1, M0, Any G); IIIB: (T2, N2, M0, Any G); (T3, N1-2, M0, Any G); (T4a, N0-1, M0, Any G). T1: Tumor invades the lamina propria, muscularis mucosae, or submucosa. T2: Tumor invades the muscularis propria. T3: Tumor invades adventitia. T4a: Tumor invades the pleura, pericardium, azygos vein, diaphragm, or peritoneum. N0: No regional lymph node metastasis. N1: Tumor with metastasis in one or two regional lymph nodes. N2: Tumor with metastasis in three to six regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4521678|ANOA is an autosomal recessive neurologic disorder characterized by onset of visual and hearing impairment in the first or second decades (summary by Paul et al., 2017).|OMIM|N|
C4521680|DFNA34 is an autosomal dominant form of postlingual, slowly progressive sensorineural hearing loss with variable severity and variable additional features. Some patients have pure hearing loss without significant additional features, whereas some patients have features of an autoinflammatory disorder with systemic manifestations, including periodic fevers, arthralgias, and episodic urticaria. The disorder results from abnormally increased activation of the inflammatory pathway, and treatment with an IL1 receptor antagonist (see 147679) may be effective if started early (summary by Nakanishi et al., 2017).|OMIM|N|
C4521710|Stage IIIA includes: (T1, N2, M0, Any G); (T2, N1, M0, Any G). T1: Tumor invades the lamina propria, muscularis mucosae, or submucosa. T2: Tumor invades the muscularis propria. N1: Tumor with metastasis in one or two regional lymph nodes. N2: Tumor with metastasis in three to six regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4521711|Stage IIIB includes: (T2, N2, M0, Any G); (T3, N1-2, M0, Any G); (T4a, N0-1, M0, Any G). T2: Tumor invades the muscularis propria. T3: Tumor invades adventitia. T4a: Tumor invades the pleura, pericardium, azygos vein, diaphragm, or peritoneum. N0: No regional lymph node metastasis. N1: Tumor with metastasis in one or two regional lymph nodes. N2: Tumor with metastasis in three to six regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4521712|Stage IV includes: IVA: (T4a, N2, M0, Any G); (T4b, N0-2, M0, Any G); (Any T, N3, M0, Any G); IVB: (Any T, Any N, M1, Any G). T4a: Tumor invades the pleura, pericardium, azygos vein, diaphragm, or peritoneum. T4b: Tumor invades other adjacent structures, such as the aorta, vertebral body, or airway. N0: No regional lymph node metastasis. N1: Tumor with metastasis in one or two regional lymph nodes. N2: Tumor with metastasis in three to six regional lymph nodes. N3: Tumor with metastasis in seven or more regional lymph nodes. M0: No distant metastasis. M1: Distant metastasis. (AJCC 8th ed.)|NCI|N|
C4521713|Stage IVA includes: (T4a, N2, M0, Any G); (T4b, N0-2, M0, Any G); (Any T, N3, M0, Any G). T4a: Tumor invades the pleura, pericardium, azygos vein, diaphragm, or peritoneum. T4b: Tumor invades other adjacent structures, such as the aorta, vertebral body, or airway. N0: No regional lymph node metastasis. N1: Tumor with metastasis in one or two regional lymph nodes. N2: Tumor with metastasis in three to six regional lymph nodes. N3: Tumor with metastasis in seven or more regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4521714|Stage IVB includes: Any T, Any N, M1, Any G. M1: Distant metastasis. (AJCC 8th ed.)|NCI|N|
C4521715|Stage I includes: T0-2, N0, M0. T0: No evidence of primary tumor. T1: Tumor invades the lamina propria, muscularis mucosae, or submucosa. T2: Tumor invades the muscularis propria. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4521716|Stage II includes: T3, N0, M0. T3: Tumor invades adventitia. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4521717|Stage III includes: IIIA: (T0-2, N1, M0); IIIB: (T3, N1, M0); (T0-3, N2, M0); (T4a, N0, M0). T0: No evidence of primary tumor. T1: Tumor invades the lamina propria, muscularis mucosae, or submucosa. T2: Tumor invades the muscularis propria. T3: Tumor invades adventitia. T4a: Tumor invades the pleura, pericardium, azygos vein, diaphragm, or peritoneum. N0: No regional lymph node metastasis. N1: Tumor with metastasis in one or two regional lymph nodes. N2: Tumor with metastasis in three to six regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4521718|Stage IIIA includes: T0-2, N1, M0. T0: No evidence of primary tumor. T1: Tumor invades the lamina propria, muscularis mucosae, or submucosa. T2: Tumor invades the muscularis propria. N1: Tumor with metastasis in one or two regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4521719|Stage IIIB includes: (T3, N1, M0); (T0-3, N2, M0); (T4a, N0, M0). T0: No evidence of primary tumor. T1: Tumor invades the lamina propria, muscularis mucosae, or submucosa. T2: Tumor invades the muscularis propria. T3: Tumor invades adventitia. T4a: Tumor invades the pleura, pericardium, azygos vein, diaphragm, or peritoneum. N0: No regional lymph node metastasis. N1: Tumor with metastasis in one or two regional lymph nodes. N2: Tumor with metastasis in three to six regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4521720|Stage IV includes: IVA: (T4a, N1-2, M0); (T4a, NX, M0); (T4b, N0-2, M0); (Any T, N3, M0); IVB: (Any T, Any N, M1). T4a: Tumor invades the pleura, pericardium, azygos vein, diaphragm, or peritoneum. T4b: Tumor invades other adjacent structures, such as the aorta, vertebral body, or airway. NX: Regional lymph nodes cannot be assessed. N0: No regional lymph node metastasis. N1: Tumor with metastasis in one or two regional lymph nodes. N2: Tumor with metastasis in three to six regional lymph nodes. N3: Tumor with metastasis in seven or more regional lymph nodes. M0: No distant metastasis. M1: Distant metastasis. (AJCC 8th ed.)|NCI|N|
C4521721|Stage IVA includes: (T4a, N1-2, M0); (T4a, NX, M0); (T4b, N0-2, M0); (Any T, N3, M0). T4a: Tumor invades the pleura, pericardium, azygos vein, diaphragm, or peritoneum. T4b: Tumor invades other adjacent structures, such as the aorta, vertebral body, or airway. NX: Regional lymph nodes cannot be assessed. N0: No regional lymph node metastasis. N1: Tumor with metastasis in one or two regional lymph nodes. N2: Tumor with metastasis in three to six regional lymph nodes. N3: Tumor with metastasis in seven or more regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4521722|Stage IVB includes: Any T, Any N, M1. M1: Distant metastasis. (AJCC 8th ed.)|NCI|N|
C4521723|Stage 0 includes: Tis, N0, M0. Tis: High-grade dysplasia, defined as malignant cells confined to the epithelium by the basement membrane. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4521724|Stage I includes: T1, N0-1, M0. T1: Tumor invades the lamina propria, muscularis mucosae, or submucosa. N0: No regional lymph node metastasis. N1: Tumor with metastasis in one or two regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4521725|Stage II includes: (T2, N0-1, M0); (T3, N0, M0). T2: Tumor invades the muscularis propria. T3: Tumor invades adventitia. N0: No regional lymph node metastasis. N1: Tumor with metastasis in one or two regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4521726|Stage III includes: (T3, N1, M0); (T1-3, N2, M0). T1: Tumor invades the lamina propria, muscularis mucosae, or submucosa. T2: Tumor invades the muscularis propria. T3: Tumor invades adventitia. N1: Tumor with metastasis in one or two regional lymph nodes. N2: Tumor with metastasis in three to six regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4521727|Stage IV includes: IVA: (T4, N0-2, M0); (Any T, N3, M0); IVB: (Any T, Any N, M1). T4: Tumor invades adjacent structures. N0: No regional lymph node metastasis. N1: Tumor with metastasis in one or two regional lymph nodes. N2: Tumor with metastasis in three to six regional lymph nodes. N3: Tumor with metastasis in seven or more regional lymph nodes. M0: No distant metastasis. M1: Distant metastasis. (AJCC 8th ed.)|NCI|N|
C4521728|Stage IVA includes: (T4, N0-2, M0); (Any T, N3, M0). T4: Tumor invades adjacent structures. N0: No regional lymph node metastasis. N1: Tumor with metastasis in one or two regional lymph nodes. N2: Tumor with metastasis in three to six regional lymph nodes. N3: Tumor with metastasis in seven or more regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4521729|Stage IVB includes: Any T, Any N, M1. M1: Distant metastasis. (AJCC 8th ed.)|NCI|N|
C4521730|Stage I includes: T0-2, N0, M0. T0: No evidence of primary tumor. T1: Tumor invades the lamina propria, muscularis mucosae, or submucosa. T2: Tumor invades the muscularis propria. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4521731|Stage II includes: T3, N0, M0. T3: Tumor invades adventitia. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4521732|Stage III includes: IIIA: (T0-2, N1, M0); IIIB: (T3, N1, M0); (T0-3, N2, M0); (T4a, N0, M0). T0: No evidence of primary tumor. T1: Tumor invades the lamina propria, muscularis mucosae, or submucosa. T2: Tumor invades the muscularis propria. T3: Tumor invades adventitia. T4a: Tumor invades the pleura, pericardium, azygos vein, diaphragm, or peritoneum. N0: No regional lymph node metastasis. N1: Tumor with metastasis in one or two regional lymph nodes. N2: Tumor with metastasis in three to six regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4521733|Stage IIIA includes: T0-2, N1, M0. T0: No evidence of primary tumor. T1: Tumor invades the lamina propria, muscularis mucosae, or submucosa. T2: Tumor invades the muscularis propria. N1: Tumor with metastasis in one or two regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4521734|Stage IIIB includes: (T3, N1, M0); (T0-3, N2, M0); (T4a, N0, M0). T0: No evidence of primary tumor. T1: Tumor invades the lamina propria, muscularis mucosae, or submucosa. T2: Tumor invades the muscularis propria. T3: Tumor invades adventitia. T4a: Tumor invades the pleura, pericardium, azygos vein, diaphragm, or peritoneum. N0: No regional lymph node metastasis. N1: Tumor with metastasis in one or two regional lymph nodes. N2: Tumor with metastasis in three to six regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4521735|Stage IV includes: IVA: (T4a, N1-2, M0); (T4a, NX, M0); (T4b, N0-2, M0); (Any T, N3, M0); IVB: (Any T, Any N, M1). T4a: Tumor invades the pleura, pericardium, azygos vein, diaphragm, or peritoneum. T4b: Tumor invades other adjacent structures, such as the aorta, vertebral body, or airway. NX: Regional lymph nodes cannot be assessed. N0: No regional lymph node metastasis. N1: Tumor with metastasis in one or two regional lymph nodes. N2: Tumor with metastasis in three to six regional lymph nodes. N3: Tumor with metastasis in seven or more regional lymph nodes. M0: No distant metastasis. M1: Distant metastasis. (AJCC 8th ed.)|NCI|N|
C4521736|Stage IVA includes: (T4a, N1-2, M0); (T4a, NX, M0); (T4b, N0-2, M0); (Any T, N3, M0). T4a: Tumor invades the pleura, pericardium, azygos vein, diaphragm, or peritoneum. T4b: Tumor invades other adjacent structures, such as the aorta, vertebral body, or airway. NX: Regional lymph nodes cannot be assessed. N0: No regional lymph node metastasis. N1: Tumor with metastasis in one or two regional lymph nodes. N2: Tumor with metastasis in three to six regional lymph nodes. N3: Tumor with metastasis in seven or more regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4521737|Stage IVB includes: Any T, Any N, M1. M1: Distant metastasis. (AJCC 8th ed.)|NCI|N|
C4521738|Stage 0 includes: Tis, N0, M0, GN/A, Tumor location: Any. Tis: High-grade dysplasia, defined as malignant cells confined to the epithelium by the basement membrane. N0: No regional lymph node metastasis. M0: No distant metastasis. GN/A: Grade non-applicable. (AJCC 8th ed.)|NCI|N|
C4521739|Stage I includes: IA: (T1a, N0, M0, G1, Tumor location: Any); (T1a, N0, M0, GX, Tumor location: Any); IB: (T1a, N0, M0, G2-3, Tumor location: Any); (T1b, N0, M0, G1-3, Tumor location: Any); (T1b, N0, M0, GX, Tumor location: Any); (T2, N0, M0, G1, Tumor location: Any). T1a: Tumor invades the lamina propria or muscularis mucosae. T1b: Tumor invades the submucosa. T2: Tumor invades the muscularis propria. N0: No regional lymph node metastasis. M0: No distant metastasis. G1: Well-differentiated. GX: Grade cannot be assessed. G2: Moderately differentiated. G3: Poorly differentiated, undifferentiated. (AJCC 8th ed.)|NCI|N|
C4521740|Stage IA includes: (T1a, N0, M0, G1, Tumor location: Any); (T1a, N0, M0, GX, Tumor location: Any). T1a: Tumor invades the lamina propria or muscularis mucosae. N0: No regional lymph node metastasis. M0: No distant metastasis. G1: Well-differentiated. GX: Grade cannot be assessed. (AJCC 8th ed.)|NCI|N|
C4521741|Stage IB includes: (T1a, N0, M0, G2-3, Tumor location: Any); (T1b, N0, M0, G1-3, Tumor location: Any); (T1b, N0, M0, GX, Tumor location: Any); (T2, N0, M0, G1, Tumor location: Any). T1a: Tumor invades the lamina propria or muscularis mucosae. T1b: Tumor invades the submucosa. T2: Tumor invades the muscularis propria. N0: No regional lymph node metastasis. M0: No distant metastasis. G1: Well-differentiated. GX: Grade cannot be assessed. G2: Moderately differentiated. G3: Poorly differentiated, undifferentiated. (AJCC 8th ed.)|NCI|N|
C4521742|Stage II includes: IIA: (T2, N0, M0, G2-3, Tumor location: Any); (T2, N0, M0, GX, Tumor location: Any); (T3, N0, M0, Any G, Tumor location: Lower); (T3, N0, M0, G1, Tumor location: Upper/middle); IIB: (T3, N0, M0, G2-3, Tumor location: Upper/middle); (T3, N0, M0, GX, Tumor location: Any); (T3, N0, M0, Any G, Tumor location: Unknown); (T1, N1, M0, Any G, Tumor location: Any). T2: Tumor invades the muscularis propria. T1: Tumor invades the lamina propria, muscularis mucosae, or submucosa. T3: Tumor invades adventitia. N0: No regional lymph node metastasis. N1: Tumor with metastasis in one or two regional lymph nodes. M0: No distant metastasis. GX: Grade cannot be assessed. G1: Well-differentiated. G2: Moderately differentiated. G3: Poorly differentiated, undifferentiated. (AJCC 8th ed.)|NCI|N|
C4521743|Stage IIA includes: (T2, N0, M0, G2-3, Tumor location: Any); (T2, N0, M0, GX, Tumor location: Any); (T3, N0, M0, Any G, Tumor location: Lower); (T3, N0, M0, G1, Tumor location: Upper/middle). T2: Tumor invades the muscularis propria. T3: Tumor invades adventitia. N0: No regional lymph node metastasis. M0: No distant metastasis. GX: Grade cannot be assessed. G1: Well-differentiated. G2: Moderately differentiated. G3: Poorly differentiated, undifferentiated. (AJCC 8th ed.)|NCI|N|
C4521744|Stage IIB includes: (T3, N0, M0, G2-3, Tumor location: Upper/middle); (T3, N0, M0, GX, Tumor location: Any); (T3, N0, M0, Any G, Tumor location: Unknown); (T1, N1, M0, Any G, Tumor location: Any). T1: Tumor invades the lamina propria, muscularis mucosae, or submucosa. T3: Tumor invades adventitia. N0: No regional lymph node metastasis. N1: Tumor with metastasis in one or two regional lymph nodes. M0: No distant metastasis. GX: Grade cannot be assessed. G2: Moderately differentiated. G3: Poorly differentiated, undifferentiated (AJCC 8th ed.)|NCI|N|
C4521745|Stage III includes: IIIA: (T1, N2, M0, Any G, Tumor location: Any); (T2, N1, M0, Any G, Tumor location: Any); IIIB: (T2, N2, M0, Any G, Tumor location: Any); (T3, N1-2, M0, Any G, Tumor location: Any); (T4a, N0-1, M0, Any G, Tumor location: Any). T1: Tumor invades the lamina propria, muscularis mucosae, or submucosa. T2: Tumor invades the muscularis propria. T3: Tumor invades adventitia. T4a: Tumor invades the pleura, pericardium, azygos vein, diaphragm, or peritoneum. N0: No regional lymph node metastasis. N1: Tumor with metastasis in one or two regional lymph nodes. N2: Tumor with metastasis in three to six regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4521746|Stage IIIA includes: (T1, N2, M0, Any G, Tumor location: Any); (T2, N1, M0, Any G, Tumor location: Any). T1: Tumor invades the lamina propria, muscularis mucosae, or submucosa. T2: Tumor invades the muscularis propria. N1: Tumor with metastasis in one or two regional lymph nodes. N2: Tumor with metastasis in three to six regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4521747|Stage IIIB includes: (T2, N2, M0, Any G, Tumor location: Any); (T3, N1-2, M0, Any G, Tumor location: Any); (T4a, N0-1, M0, Any G, Tumor location: Any). T2: Tumor invades the muscularis propria. T3: Tumor invades adventitia. T4a: Tumor invades the pleura, pericardium, azygos vein, diaphragm, or peritoneum. N0: No regional lymph node metastasis. N1: Tumor with metastasis in one or two regional lymph nodes. N2: Tumor with metastasis in three to six regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4521748|Stage IV includes: IVA: (T4a, N2, M0, Any G, Tumor location: Any); (T4b, N0-2, M0, Any G, Tumor location: Any); (Any T, N3, M0, Any G, Tumor location: Any); IVB: (Any T, Any N, M1, Any G, Tumor location: Any). T4a: Tumor invades the pleura, pericardium, azygos vein, diaphragm, or peritoneum. T4b: Tumor invades other adjacent structures, such as the aorta, vertebral body, or airway. N0: No regional lymph node metastasis. N1: Tumor with metastasis in one or two regional lymph nodes. N2: Tumor with metastasis in three to six regional lymph nodes. N3: Tumor with metastasis in seven or more regional lymph nodes. M0: No distant metastasis. M1: Distant metastasis. (AJCC 8th ed.)|NCI|N|
C4521749|Stage IVA includes: (T4a, N2, M0, Any G, Tumor location: Any); (T4b, N0-2, M0, Any G, Tumor location: Any); (Any T, N3, M0, Any G, Tumor location: Any). T4a: Tumor invades the pleura, pericardium, azygos vein, diaphragm, or peritoneum. T4b: Tumor invades other adjacent structures, such as the aorta, vertebral body, or airway. N0: No regional lymph node metastasis. N1: Tumor with metastasis in one or two regional lymph nodes. N2: Tumor with metastasis in three to six regional lymph nodes. N3: Tumor with metastasis in seven or more regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4521750|Stage IVB includes: Any T, Any N, M1, Any G, Tumor location: Any. M1: Distant metastasis. (AJCC 8th ed.)|NCI|N|
C4521751|Stage 0 includes: Tis, N0, M0. Tis: Carcinoma in situ: intraepithelial tumor without invasion of the lamina propria, high grade dysplasia. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4521752|Stage I includes: (T1, N0, M0); (T2, N0, M0). T1: Tumor invades the lamina propria, muscularis mucosae, or submucosa. T2: Tumor invades the muscularis propria. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4521753|Stage II includes: IIA: (T1, N1, N2, or N3, M0); (T2, N1, N2, or N3, M0); IIB: (T3, N0, M0); (T4a, N0, M0). T1: Tumor invades the lamina propria, muscularis mucosae, or submucosa. T2: Tumor invades the muscularis propria. T3: Tumor penetrates the subserosal connective tissue without invasion of the visceral peritoneum or adjacent structures. T4a: Tumor invades the serosa (visceral peritoneum). N0: No regional lymph node metastasis. N1: Tumor with metastasis in one or two regional lymph nodes. N2: Tumor with metastasis in three to six regional lymph nodes. N3: Tumor with metastasis in seven or more regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4521754|Stage III includes: (T3, N1, N2, or N3, M0); (T4a, N1, N2, or N3, M0). T3: Tumor penetrates the subserosal connective tissue without invasion of the visceral peritoneum or adjacent structures. T4a: Tumor invades the serosa (visceral peritoneum). N1: Tumor with metastasis in one or two regional lymph nodes. N2: Tumor with metastasis in three to six regional lymph nodes. N3: Tumor with metastasis in seven or more regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4521755|Stage IV includes: IVA: (T4b, Any N, M0); IVB: (Any T, Any N, M1). T4b: Tumor invades adjacent structures/organs. M0: No distant metastasis. M1: Distant metastasis. (AJCC 8th ed.)|NCI|N|
C4521756|Stage 0 includes: Tis, N0, M0. Tis: Carcinoma in situ: intraepithelial tumor without invasion of the lamina propria, high grade dysplasia. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4521780|An intended site for a dose form that is for administration into the stomach or duodenum by means of an appropriate device.|SNOMEDCT_US|N|
C4521783|Stage I includes: IA: (T1, N0, M0); IB: (T1, N1, M0); (T2, N0, M0). T1: Tumor invades the lamina propria, muscularis mucosae, or submucosa. T2: Tumor invades the muscularis propria. N0: No regional lymph node metastasis. N1: Tumor with metastasis in one or two regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4521784|Stage IA includes: (T1, N0, M0). T1: Tumor invades the lamina propria, muscularis mucosae, or submucosa. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4521785|Stage IB includes: (T1, N1, M0); (T2, N0, M0). T1: Tumor invades the lamina propria, muscularis mucosae, or submucosa. T2: Tumor invades the muscularis propria. N0: No regional lymph node metastasis. N1: Tumor with metastasis in one or two regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4521786|Stage II includes: IIA: (T1, N2, M0); (T2, N1, M0); (T3, N0, M0); IIB: (T1, N3a, M0); (T2, N2, M0); (T3, N1, M0); (T4a, N0, M0). T1: Tumor invades the lamina propria, muscularis mucosae, or submucosa. T2: Tumor invades the muscularis propria. T3: Tumor penetrates the subserosal connective tissue without invasion of the visceral peritoneum or adjacent structures. T4a: Tumor invades the serosa (visceral peritoneum). N0: No regional lymph node metastasis. N1: Tumor with metastasis in one or two regional lymph nodes. N2: Tumor with metastasis in three to six regional lymph nodes. N3a: Tumor with metastasis in seven to fifteen regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4521787|Stage IIA includes: (T1, N2, M0); (T2, N1, M0); (T3, N0, M0). T1: Tumor invades the lamina propria, muscularis mucosae, or submucosa. T2: Tumor invades the muscularis propria. T3: Tumor penetrates the subserosal connective tissue without invasion of the visceral peritoneum or adjacent structures. N0: No regional lymph node metastasis. N1: Tumor with metastasis in one or two regional lymph nodes. N2: Tumor with metastasis in three to six regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4521788|Stage IIB includes: (T1, N3a, M0); (T2, N2, M0); (T3, N1, M0); (T4a, N0, M0). T1: Tumor invades the lamina propria, muscularis mucosae, or submucosa. T2: Tumor invades the muscularis propria. T3: Tumor penetrates the subserosal connective tissue without invasion of the visceral peritoneum or adjacent structures. T4a: Tumor invades the serosa (visceral peritoneum). N0: No regional lymph node metastasis. N1: Tumor with metastasis in one or two regional lymph nodes. N2: Tumor with metastasis in three to six regional lymph nodes. N3a: Tumor with metastasis in seven to fifteen regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4521789|Stage III includes: IIIA: (T2, N3a, M0); (T3, N2, M0); (T4a, N1, M0); (T4a, N2, M0); (T4b, N0, M0); IIIB: (T1, N3b, M0); (T2, N3b, M0); (T3, N3a, M0); (T4a, N3a, M0); (T4b, N1, M0); (T4b, N2, M0); IIIC: (T3, N3b, M0); (T4a, N3b, M0); (T4b, N3a, M0); (T4b, N3b, M0). T1: Tumor invades the lamina propria, muscularis mucosae, or submucosa. T2: Tumor invades the muscularis propria. T3: Tumor penetrates the subserosal connective tissue without invasion of the visceral peritoneum or adjacent structures. T4a: Tumor invades the serosa (visceral peritoneum). T4b: Tumor invades adjacent structures/organs. N0: No regional lymph node metastasis. N1: Tumor with metastasis in one or two regional lymph nodes. N2: Tumor with metastasis in three to six regional lymph nodes. N3a: Tumor with metastasis in seven to fifteen regional lymph nodes. N3b: Tumor with metastasis in sixteen or more regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4521790|Stage IIIA includes: (T2, N3a, M0); (T3, N2, M0); (T4a, N1, M0); (T4a, N2, M0); (T4b, N0, M0). T2: Tumor invades the muscularis propria. T3: Tumor penetrates the subserosal connective tissue without invasion of the visceral peritoneum or adjacent structures. T4a: Tumor invades the serosa (visceral peritoneum). T4b: Tumor invades adjacent structures/organs. N0: No regional lymph node metastasis. N1: Tumor with metastasis in one or two regional lymph nodes. N2: Tumor with metastasis in three to six regional lymph nodes. N3a: Tumor with metastasis in seven to fifteen regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4521791|Stage IIIB includes: (T1, N3b, M0); (T2, N3b, M0); (T3, N3a, M0); (T4a, N3a, M0); (T4b, N1, M0); (T4b, N2, M0). T1: Tumor invades the lamina propria, muscularis mucosae, or submucosa. T2: Tumor invades the muscularis propria. T3: Tumor penetrates the subserosal connective tissue without invasion of the visceral peritoneum or adjacent structures. T4a: Tumor invades the serosa (visceral peritoneum). T4b: Tumor invades adjacent structures/organs. N1: Tumor with metastasis in one or two regional lymph nodes. N2: Tumor with metastasis in three to six regional lymph nodes. N3a: Tumor with metastasis in seven to fifteen regional lymph nodes. N3b: Tumor with metastasis in sixteen or more regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4521792|Stage IIIC includes: (T3, N3b, M0); (T4a, N3b, M0); (T4b, N3a, M0); (T4b, N3b, M0). T3: Tumor penetrates the subserosal connective tissue without invasion of the visceral peritoneum or adjacent structures. T4a: Tumor invades the serosa (visceral peritoneum). T4b: Tumor invades adjacent structures/organs. N3a: Tumor with metastasis in seven to fifteen regional lymph nodes. N3b: Tumor with metastasis in sixteen or more regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4521793|Stage IV includes: Any T, Any N. M1: Distant metastasis. (AJCC 8th ed.)|NCI|N|
C4521794|Stage I includes: (T1, N0, M0); (T2, N0, M0); (T1, N1, M0). T1: Tumor invades the lamina propria, muscularis mucosae, or submucosa. T2: Tumor invades the muscularis propria. N0: No regional lymph node metastasis. N1: Tumor with metastasis in one or two regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4521795|Stage II includes: (T3, N0, M0); (T2, N1, M0); (T1, N2, M0); (T4a, N0, M0); (T3, N1, M0); (T2, N2, M0); (T1, N3, M0). T1: Tumor invades the lamina propria, muscularis mucosae, or submucosa. T2: Tumor invades the muscularis propria. T3: Tumor penetrates the subserosal connective tissue without invasion of the visceral peritoneum or adjacent structures. T4a: Tumor invades the serosa (visceral peritoneum). N0: No regional lymph node metastasis. N1: Tumor with metastasis in one or two regional lymph nodes. N2: Tumor with metastasis in three to six regional lymph nodes. N3: Tumor with metastasis in seven or more regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4521796|Stage III includes: (T4a, N1, M0); (T3, N2, M0); (T2, N3, M0); (T4b, N0, M0); (T4b, N1, M0); (T4a, N2, M0); (T3, N3, M0); (T4b, N2, M0); (T4b, N3, M0); (T4a, N3, M0). T2: Tumor invades the muscularis propria. T3: Tumor penetrates the subserosal connective tissue without invasion of the visceral peritoneum or adjacent structures. T4a: Tumor invades the serosa (visceral peritoneum). T4b: Tumor invades adjacent structures/organs. N0: No regional lymph node metastasis. N1: Tumor with metastasis in one or two regional lymph nodes. N2: Tumor with metastasis in three to six regional lymph nodes. N3: Tumor with metastasis in seven or more regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4521797|Stage IV includes: Any T, Any N, M1. M1: Distant metastasis. (AJCC 8th ed.)|NCI|N|
C4521798|Stage IIA includes: (T1, N1, N2, or N3, M0); (T2, N1, N2, or N3, M0). T1: Tumor invades the lamina propria, muscularis mucosae, or submucosa. T2: Tumor invades the muscularis propria. N1: Tumor with metastasis in one or two regional lymph nodes. N2: Tumor with metastasis in three to six regional lymph nodes. N3: Tumor with metastasis in seven or more regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4521799|Stage IIB includes: (T3, N0, M0); (T4a, N0, M0). T3: Tumor penetrates the subserosal connective tissue without invasion of the visceral peritoneum or adjacent structures. T4a: Tumor invades the serosa (visceral peritoneum). N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4521800|Stage 0 includes: Tis, N0, M0. Tis: High-grade squamous intraepithelial lesion (previously termed carcinoma in situ, Bowen disease, anal intraepithelial neoplasia II-III, high-grade anal intraepithelial neoplasia). N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4521801|Stage I includes: T1, N0, M0. T1: Tumor 2 cm or smaller. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4521802|Stage II includes: IIA: T2, N0, M0; IIB: T3, N0, M0. T2: Tumor larger than 2 cm but equal to or smaller than 5 cm. T3: Tumor larger than 5 cm. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4521803|Stage III includes: IIIA: (T1, N1, M0); (T2, N1, M0); IIIB: (T4, N0, M0); IIIC: (T3, N1, M0); (T4, N1, M0). T1: Tumor 2 cm or smaller. T2: Tumor larger than 2 cm but equal to or smaller than 5 cm. T3: Tumor larger than 5 cm. T4: Tumor of any size invading adjacent organ(s), such as the vagina, urethra, or bladder. N0: No regional lymph node metastasis. N1: Metastasis in inguinal, mesorectal, internal iliac, or external iliac nodes. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4521804|Stage IIIA includes: (T1, N1, M0); (T2, N1, M0). T1: Tumor 2 cm or smaller. T2: Tumor larger than 2 cm but equal to or smaller than 5 cm. N1: Metastasis in inguinal, mesorectal, internal iliac, or external iliac nodes. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4521805|Stage IIIB includes: T4, N0, M0. T4: Tumor of any size invading adjacent organ(s), such as the vagina, urethra, or bladder. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4521806|Stage IV includes: Any T, Any N, M1. M1: Distant metastasis. (AJCC 8th ed.)|NCI|N|
C4521807|Stage 0 includes: Tis, N0, M0. Tis: Carcinoma in situ (intramucosal carcinoma; invasion of the lamina propria or extension into but not through the muscularis mucosae). N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4521808|Stage I includes: (T1, N0, M0); (T2, N0, M0). T1: Tumor invades the submucosa (through the muscularis mucosa but not into the muscularis propria). T2: Tumor invades the muscularis propria. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4521809|Stage IIA includes: T3, N0, M0. T3: Tumor invades through the muscularis propria into the subserosa or the mesoappendix. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4521810|Stage IIB includes: T4a, N0, M0. T4a: Tumor invades through the visceral peritoneum, including the acellular mucin or mucinous epithelium involving the serosa of the appendix or serosa of the mesoappendix. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4521811|Stage IIC includes: T4b, N0, M0. T4b: Tumor directly invades or adheres to adjacent organs or structures. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4521812|Stage IIIA includes: (T1, N1, M0); (T2, N1, M0). T1: Tumor invades the submucosa (through the muscularis mucosa but not into the muscularis propria). T2: Tumor invades the muscularis propria. N1: One to three regional lymph nodes are positive (tumor in lymph node measuring 0.2 mm or more) or any number of tumor deposits is present, and all identifiable lymph nodes are negative. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4521813|Stage IIIB includes: (T3, N1, M0); (T4, N1, M0). T3: Tumor invades through the muscularis propria into the subserosa or the mesoappendix. T4: Tumor invades the visceral peritoneum, including the acellular mucin or mucinous epithelium involving the serosa of the appendix or mesoappendix, and/or directly invades adjacent organs or structures. N1: One to three regional lymph nodes are positive (tumor in lymph node measuring 0.2 mm or more) or any number of tumor deposits is present, and all identifiable lymph nodes are negative. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4521814|Stage IIIC includes: Any T, N2, M0. N2: Four or more regional lymph nodes are positive. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4521815|Stage IVA includes: (Any T, N0, M1a); (Any T, Any N, M1b, G1). N0: No regional lymph node metastasis. M1a: Intraperitoneal acellular mucin, without identifiable tumor cells in the disseminated peritoneal mucinous deposits. M1b: Intraperitoneal metastasis only, including peritoneal mucinous deposits containing tumor cells. G1: Well differentiated. (AJCC 8th ed.)|NCI|N|
C4521816|Stage IVB includes: Any T, Any N, M1b, G2, G3, or GX. M1b: Intraperitoneal metastasis only, including peritoneal mucinous deposits containing tumor cells. G2: Moderately differentiated. G3: Poorly differentiated. GX: Grade cannot be assessed. (AJCC 8th ed.)|NCI|N|
C4521817|Stage IVC includes: Any T, Any N, M1c, Any G. M1c: Metastasis to sites other than peritoneum. (AJCC 8th ed.)|NCI|N|
C4521818|Stage 0 includes: Tis, N0, M0. Tis: Carcinoma in situ/high grade dysplasia. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4521819|Stage I includes: T1, N0, M0. T1: Tumor confined to the bile duct, with extension up to the muscle layer or fibrous tissue. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4521820|Stage II includes: T2a-b, N0, M0. T2a: Tumor invading beyond the wall of the bile duct to surrounding adipose tissue. T2b: Tumor invading adjacent hepatic parenchyma. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4521821|Stage IIIA includes: T3, N0, M0. T3: Tumor invading unilateral branches of the portal vein or hepatic artery. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4521822|Stage IIIB includes: T4, N0, M0. T4: Tumor invading the main portal vein or its branches bilaterally, or the common hepatic artery; or unilateral second-order biliary radicals with contralateral portal vein or hepatic artery involvement. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4521823|Stage IVA includes: Any T, N2, M0. N2: Four or more positive lymph nodes involving the hilar, cystic duct, common bile duct, hepatic artery, posterior pancreatoduodenal, and portal vein lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4521824|Stage IVB includes: Any T, Any N, M1. M1: Distant metastasis. (AJCC 8th ed.)|NCI|N|
C4521825|Stage 0 includes: Tis, N0, M0. Tis: Carcinoma in situ/high-grade dysplasia. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4521826|Stage IIA includes: (T1, N1, M0); (T2, N0, M0). T1: Tumor invading the bile duct wall with a depth less than 5 mm. T2: Tumor invading the bile duct wall with a depth of 5-12 mm. N0: No regional lymph node metastasis. N1: Metastasis in one to three regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4521827|Stage IIB includes: (T2, N1, M0); (T3, N0, M0); (T3, N1, M0). T2: Tumor invading the bile duct wall with a depth of 5-12 mm. T3: Tumor invading the bile duct wall with a depth greater than 12 mm. N0: No regional lymph node metastasis. N1: Metastasis in one to three regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4521828|Stage III includes: IIIA: (T1, N2, M0); (T2, N2, M0); (T3, N2, M0); IIIB: (T4, N0, M0); (T4, N1, M0); (T4, N2, M0). T1: Tumor invading the bile duct wall with a depth less than 5 mm. T2: Tumor invading the bile duct wall with a depth of 5-12 mm. T3: Tumor invading the bile duct wall with a depth greater than 12 mm. T4: Tumor involving the celiac axis, superior mesenteric artery, and/or common hepatic artery. N0: No regional lymph node metastasis. N1: Metastasis in one to three regional lymph nodes. N2: Metastasis in four or more regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4521829|Stage IV includes: Any T, Any N, M1. M1: Distant metastasis. (AJCC 8th ed.)|NCI|N|
C4521854|An intended site for a dose form that is for administration to the gingivae.|SNOMEDCT_US|N|
C4521862|Stage 0 includes: Tis, N0, M0. Tis: Carcinoma in situ. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4521863|Stage I includes: IA: (T1a, N0, M0); IB: (T1b, N0, M0); (T2, N0, M0). T1a: Tumor limited to ampulla of Vater or sphincter of Oddi. T1b: Tumor invading beyond the sphincter of Oddi (perisphincteric invasion) and/or into the duodenal submucosa. T2: Tumor invading into the muscularis propria of the duodenum. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4521864|Stage IA includes: T1a, N0, M0. T1a: Tumor limited to ampulla of Vater or sphincter of Oddi. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4521865|Stage IB includes: (T1b, N0, M0); (T2, N0, M0). T1b: Tumor invading beyond the sphincter of Oddi (perisphincteric invasion) and/or into the duodenal submucosa. T2: Tumor invading into the muscularis propria of the duodenum. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4521866|Stage II includes: IIA: T3a, N0, M0; IIB: T3b, N0, M0. T3a: Tumor directly invading the pancreas (up to 0.5 cm). T3b: Tumor extending more than 0.5 cm into the pancreas, or extending into peripancreatic tissue or duodenal serosa without involvement of the celiac axis or superior mesenteric artery. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4521867|Stage IIA includes: T3a, N0, M0. T3a: Tumor directly invading the pancreas (up to 0.5 cm). N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4521868|Stage IIB includes: T3b, N0, M0. T3b: Tumor extending more than 0.5 cm into the pancreas, or extending into peripancreatic tissue or duodenal serosa without involvement of the celiac axis or superior mesenteric artery. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4521869|Stage III includes: IIIA: (T1a, N1, M0); (T1b, N1, M0); (T2, N1, M0); (T3a, N1, M0); (T3b, N1, M0); IIIB: (T4, Any N, M0); (Any T, N2, M0). T1a: Tumor limited to ampulla of Vater or sphincter of Oddi. T1b: Tumor invading beyond the sphincter of Oddi (perisphincteric invasion) and/or into the duodenal submucosa. T2: Tumor invading into the muscularis propria of the duodenum. T3a: Tumor directly invading the pancreas (up to 0.5 cm). T3b: Tumor extending more than 0.5 cm into the pancreas, or extending into peripancreatic tissue or duodenal serosa without involvement of the celiac axis or superior mesenteric artery. T4: Tumor involving the celiac axis, superior mesenteric artery, and/or common hepatic artery, irrespective of size. N1: Metastasis to one to three regional lymph nodes. N2: Metastasis to four or more regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4521870|Stage IV includes: Any T, Any N, M1. M1: Distant metastasis. (AJCC 8th ed.)|NCI|N|
C4521871|Stage 0 includes: Tis, N0, M0. Tis: Carcinoma in situ. This includes high-grade pancreatic intraepithelial neoplasia (PanIn-3), intraductal papillary mucinous neoplasm with high-grade dysplasia, intraductal tubulopapillary neoplasm with high-grade dysplasia, and mucinous cystic neoplasm with high-grade dysplasia. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4521872|Stage I includes: IA: (T1, N0, M0); IB: (T2, N0, M0). T1: Tumor measuring 2 cm or less in greatest dimension. T2: Tumor measuring more than 2 cm and 4 cm or less in greatest dimension. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4521873|Stage IA includes: T1, N0, M0. T1: Tumor measuring 2 cm or less in greatest dimension. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4521874|Stage IB includes: T2, N0, M0. T2: Tumor measuring more than 2 cm and 4 cm or less in greatest dimension. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4521875|Stage II includes: IIA: (T3, N0, M0); IIB: (T1, N1, M0); (T2, N1, M0); (T3, N1, M0). T1: Tumor measuring 2 cm or less in greatest dimension. T2: Tumor measuring more than 2 cm and 4 cm or less in greatest dimension. T3: Tumor measuring more than 4 cm in greatest dimension. N0: No regional lymph node metastasis. N1: Metastasis in one to three regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4521876|Stage IIA includes: T3, N0, M0. T3: Tumor measuring more than 4 cm in greatest dimension. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4521877|Stage IIB includes: (T1, N1, M0); (T2, N1, M0); (T3, N1, M0). T1: Tumor measuring 2 cm or less in greatest dimension. T2: Tumor measuring more than 2 cm and 4 cm or less in greatest dimension. T3: Tumor measuring more than 4 cm in greatest dimension. N1: Metastasis in one to three regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4521878|Stage III includes: (T1, N2, M0); (T2, N2, M0); (T3, N2, M0); (T4, Any N, M0). T1: Tumor measuring 2 cm or less in greatest dimension. T2: Tumor measuring more than 2 cm and 4 cm or less in greatest dimension. T3: Tumor measuring more than 4 cm in greatest dimension. T4: Tumor involving the celiac axis, superior mesenteric artery, and/or common hepatic artery, regardless of size. N2: Metastasis in four or more regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4521879|Stage IV includes: Any T, Any N, M1. M1: Distant metastasis. (AJCC 8th ed.)|NCI|N|
C4521880|Stage IA includes: T1a, N0, M0. T1a: Pleural mesothelioma with no involvement of the visceral pleura. N0: No regional lymph metastasis. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C4521881|Stage IB includes: T1b, N0, M0. T1b: Pleural mesothelioma with a tumor also involving the visceral pleura N0: No regional lymph metastasis. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C4521903|An intended site for a dose form that is for administration to the rectum.|SNOMEDCT_US|N|
C4521905|Stage IV includes: IVA: (Any T, N1, M0); IVB: (Any T, Any N, M1). N1: Regional lymph node metastasis. M0: No distant metastasis. M1: Distant metastasis. (AJCC 7th ed.)|NCI|N|
C4521906|Stage III includes: IIIA: (T3a, N0, M0); IIIB: (T3b, N0, M0); IIIC: (T4, N0, M0). T3a: Multiple tumors more than 5 cm. T3b: Single tumor or multiple tumors of any size involving a major branch of the portal vein or hepatic vein. T4: Tumors(s) with direct invasion of adjacent organs other than the gallbladder or with perforation of visceral peritoneum. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C4521907|Stage II includes: IIA (T3, N0, M0); IIB (T4a, N0, M0); IIC (T4b, N0, M0). T3: Tumor invades through the muscularis propria into pericolorectal tissues. T4a: Tumor penetrates to the surface of the visceral peritoneum. T4b: Tumor directly invades or is adherent to other organs or structures. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C4521908|Stage III includes: IIIA (T1-T2, N1/N1c, M0); (T1, N2a, M0); IIIB (T3-T4a, N1/N1c, M0); (T2-T3, N2a, M0); (T1-T2, N2b, M0); IIIC (T4a, N2a, M0); (T3-T4a, N2b, M0); (T4b, N1-N2, M0). T1: Tumor invades submucosa. T2: Tumor invades muscularis propria. T3: Tumor invades through the muscularis propria into pericolorectal tissues. T4a: Tumor penetrates to the surface of the visceral peritoneum. T4b: Tumor directly invades or is adherent to other organs or structures. N1: Metastasis in 1-3 regional lymph nodes. N1c: Tumor deposit(s) in the subserosa, mesentery, or nonperitonealized pericolic or perirectal tissues without regional lymph node metastasis. N2: Metastasis in four or more regional lymph nodes. N2a: Metastasis in 4-6 regional lymph nodes. N2b: Metastasis in seven or more regional lymph nodes. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C4521947|Stage IV includes: IVA: (T4a, N0, M0); (T4a, N1, M0); (T1, N2, M0); (T2, N2, M0); (T3, N2, M0); (T4a, N2, M0); IVB: (T4b, Any N, M0); (Any T, N3, M0); IVC: (Any T, Any N, M1). T4a: Maxillary sinus: Moderately advanced local disease. Tumor invades anterior orbital contents, skin of cheek, pterygoid plates, infratemporal fossa, cribriform plate, sphenoid or frontal sinuses. Nasal cavity and ethmoid sinus: Moderately advanced local disease. Tumor invades any of the following: anterior orbital contents, skin of nose or cheek, minimal extension to anterior cranial fossa, pterygoid plates, sphenoid or frontal sinuses. T4b: Very advanced local disease. Tumor invades any of the following: orbital apex, dura, brain, middle cranial fossa, cranial nerves other than maxillary division of trigeminal nerve, nasopharynx, or clivus. N0: No regional lymph node metastasis. N1: Metastasis in a single ipsilateral lymph node, 3 cm or less in greatest dimension. N2: Metastasis in a single ipsilateral lymph node, more than 3 cm but not more than 6 cm in greatest dimension, or in multiple ipsilateral lymph nodes, none more than 6 cm in greatest dimension, or in bilateral or contralateral lymph nodes, none more than 6 cm in greatest dimension. N3: Metastasis in a lymph node, more than 6 cm in greatest dimension. M0: No distant metastasis. M1: Distant metastasis. (AJCC 7th ed.)|NCI|N|
C4521966|Stage I includes: IA: (T1a, N0, M0); (T1b, N0, M0) and IB: (T2a, N0, M0). T1a: Lung cancer with a tumor size of 2 cm or less n greatest dimension, surrounded by lung or visceral pleura and without bronchoscopic evidence of invasion more proximal than the lobar bronchus (i.e., not in the main bronchus). The uncommon superficial tumor of any size with its invasive component limited to the bronchial wall, which may extend proximal to the main bronchus, is also classified as T1a. T1b: Lung cancer with a tumor size more than 2 cm but 3 cm or less in greatest dimension, surrounded by lung or visceral pleura and without bronchoscopic evidence of invasion more proximal than the lobar bronchus (i.e., not in the main bronchus). T2a: Lung cancer with a tumor size more than 3 cm but 5 cm or less in greatest dimension. N0: No regional lymph metastasis. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C4521967|Stage II includes: IIA (T2b, N0, M0); (T1a, N1, M0); (T1b, N1, M0); (T2a, N1, M0) and IIB (T2b, N1, M0); (T3, N0, M0). T2b: Lung cancer with a tumor size more than 5 cm but 7 cm or less in greatest dimension. T1a: Lung cancer with a tumor size of 2 cm or less in greatest dimension, surrounded by lung or visceral pleura and without bronchoscopic evidence of invasion more proximal than the lobar bronchus (i.e., not in the main bronchus). The uncommon superficial tumor of any size with its invasive component limited to the bronchial wall, which may extend proximal to the main bronchus, is also classified as T1a. T1b: Lung cancer with a tumor size more than 2 cm but 3 cm or less in greatest dimension, surrounded by lung or visceral pleura and without bronchoscopic evidence of invasion more proximal than the lobar bronchus (i.e., not in the main bronchus). T2a: Lung cancer with a tumor size more than 3 cm but 5 cm or less in greatest dimension. T3: Lung cancer with a tumor size more than 7 cm or one that directly invades any of the following: parietal pleural (PL3) chest wall (including superior sulcus tumors), diaphragm, phrenic nerve, mediastinal pleura, parietal pericardium; or tumor in the main bronchus (less than 2 cm distal to the carina but without involvement of the carina); or associated atelectasis or obstructive pneumonitis of the entire lung or separate tumor nodule(s) in the same lobe. N0: No regional lymph node metastasis. N1: Lung cancer with metastasis in ipsilateral peribronchial and/or ipsilateral hilar lymph nodes and intrapulmonary lymph nodes, including involvement by direct extension. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C4521968|Stage III includes: IIIA (T1a, N2, M0); (T1b, N2, M0); (T2a, N2, M0); (T2b, N2, M0); (T3, N1, M0); (T3, N2, M0); (T4, N0, M0); (T4, N1, M0) and IIIB (T1a, N3, M0); (T1b, N3, M0); (T2a, N3, M0); (T2b, N3, M0); (T3, N3, M0); (T4, N2, M0); (T4, N3, M0). T4: Lung cancer with a tumor of any size that invades any of the following: mediastinum, heart, great vessels, trachea, recurrent laryngeal nerve, esophagus, vertebral body, carina, and separate tumor nodule(s) in a different ipsilateral lobe. N1: Lung cancer with metastasis in ipsilateral peribronchial and/or ipsilateral hilar lymph nodes and intrapulmonary lymph nodes, including involvement by direct extension. N2: Lung cancer with metastasis to ipsilateral mediastinal and/or subcarinal lymph nodes. N3: Lung cancer with metastasis to contralateral mediastinal, contralateral hilar, ipsilateral or contralateral scalene, or supraclavicular lymph nodes. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C4521969|An intended site for a dose form that is for administration to the external ear or ear canal.|SNOMEDCT_US|N|
C4521982|An intended site for a dose form that is for administration beneath the tongue.|SNOMEDCT_US|N|
C4521986|An intended site for a dose form that is for administration by swallowing.|SNOMEDCT_US|N|
C4521987|An intended site for a dose form that is for administration to the oral cavity.|SNOMEDCT_US|N|
C4522046|A response indicating than an individual is or was better than others.|NCI|N|
C4522048|A subjective score of 5 on a visual analogue scale that ranges from 0: No Pain to 10: Excruciating.|NCI|N|
C4522088|A finding indicating that a cellular sample has high microsatellite instability and/or a functional loss of a protein involved in the DNA mismatch repair process.|NCI|N|
C4522125|Stage IV includes: IVA: (Any T, Any N, M1a); IVB: (Any T, Any N, M1b). M1a: Metastasis confined to one organ or site (e.g., liver, lung, ovary, nonregional node). M1b: Metastases in more than one organ/site or the peritoneum. (AJCC 7th ed.)|NCI|N|
C4522127|An abnormally elevated concentration of copper in the blood circulation. This term refers to the total copper concentration.|HPO|N|
C4522129|Problem with the device associated with the violent bursting due to the sudden expansion of air, gas or fluid.|NCI|N|
C4522138|Problem with all or part of an implanted or invasive device moving from its intended location within the body.|NCI|N|
C4522160|An invasive adenocarcinoma that arises from the lung. It is characterized by the presence of tall columnar cells and mucin production. This category refers to cases formerly classified as mucinous bronchioloalveolar carcinoma, excluding cases that meet the criteria for adenocarcinoma in situ or mucinous minimally invasive adenocarcinoma.|NCI|N|
C4522164|HELIX syndrome is an autosomal recessive disorder characterized by Hypohidrosis, Electrolyte imbalance, Lacrimal gland dysfunction, Ichthyosis, and Xerostomia (summary by Hadj-Rabia et al., 2018).|OMIM|N|
C4522168|A score assigned to a Curie body segment to indicate the quantity of metastases.|NCI|N|
C4522181|A neurodegenerative condition characterized by asymmetric weakness in the upper extremities resulting from segmental lower motor neuron dysfunction.|NCI|N|
C4522208|A subjective score of 10 on a visual analogue scale that ranges from 0: No Pain to 10: Excruciating.|NCI|N|
C4522224|The reemergence of anaplastic astrocytoma after a period of remission.|NCI|N|
C4522227|Problem associated with the ability of two or more devices which are intended to be incompatible but are able to work or fit together.|NCI|N|
C4522237|The reemergence of soft tissue sarcoma after a period of remission.|NCI|N|
C4522245|A junctional or compound melanocytic neoplasm not fulfilling the histopathologic criteria of melanoma but with one of the following features: asymmetry, predominance of single melanocytes over nests in lesions 4 mm or larger, ulceration, large dermal sheets of melanocytes, lack of maturation in dermis, deep dermal mitotic figures, extensive involvement of subcutis, and nuclear pleomorphism. (Mod Pathol 2006;19: S21)|NCI|N|
C4522257|A response indicating that an individual needed very little assistance.|NCI|N|
C4522258|Vulvar cancer with regional lymph node metastasis with one or two lymph node metastases each less than 5 mm. It includes micrometastasis, N1mi. (from AJCC 8th Ed.)|NCI|N|
C4522259|Vulvar cancer with one lymph node metastasis equal to 5 mm. (from AJCC 8th Ed.)|NCI|N|
C4522260|Vulvar cancer with three or more lymph node metastases each less than 5 mm. It includes micrometastasis, N2mi. (from AJCC 8th Ed.)|NCI|N|
C4522261|Vulvar cancer with two or more lymph node metastases equal to 5 mm. (from AJCC 8th Ed.)|NCI|N|
C4522262|Vulvar cancer with tumor of any size with extension to any of the following: upper/proximal two-thirds of the urethra, upper/proximal two-thirds of the vagina, bladder mucosa, or rectal mucosa; or fixed to pelvic bone. (from AJCC 8th Ed.)|NCI|N|
C4522263|Vulvar cancer with fixed or ulcerated regional lymph node metastasis. (from AJCC 8th Ed.)|NCI|N|
C4522267|An intended site for a dose form that is for administration by injection.|SNOMEDCT_US|N|
C4522268|An intended site for a dose form that is for administration to the respiratory tract.|SNOMEDCT_US|N|
C4522280|A subjective score of 2 on a visual analogue scale that ranges from 0: No Pain to 10: Excruciating.|NCI|N|
C4522282|A response indicating that something happens or happened for a medium amount of time.|NCI|N|
C4522283|A response indicating that something is or was of a moderate amount, intensity, or duration.|NCI|N|
C4522286|A change in the nucleotide sequence of the APC gene.|NCI|N|
C4522287|The replacement of cortical bone by fibrous connective tissue that may be caused by parathyroid hormone-mediated bone resorption with secondary fibroplasia.|NCI|N|
C4522294|A subjective score of 3 on a visual analogue scale that ranges from 0: No Pain to 10: Excruciating.|NCI|N|
C4522295|A cytogenetic abnormality that involves a translocation between chromosomes 2 and 5.|NCI|N|
C4522298|Problems is not adequately described by any other term.|NCI|N|
C4522299|The concluded cause is not adequately described by any other term.|NCI|N|
C4522305|Problem associated with the complete inability to provide suction.|NCI|N|
C4522316|A subjective score of 7 on a visual analogue scale that ranges from 0: No Pain to 10: Excruciating.|NCI|N|
C4522317|A subjective score of 9 on a visual analogue scale that ranges from 0: No Pain to 10: Excruciating.|NCI|N|
C4522319|An autosomal dominant skeletal dysplasia caused by mutation(s) in the PRKAR1A gene, encoding cAMP-dependent protein kinase type I-alpha regulatory subunit. It is characterized by short stature, brachydactyly, and characteristic facial features. Resistance to multiple hormones is a common finding.|NCI|N|
C4523940|Urine has an increased amount of frothy fine bubbles.|HPO|N|
C4524073|A collection of symptoms following removal of part or all of the rectum that may include frequency or urgency of stools, numerous bowel movements over a few hours, fecal incontinence, constipation alternating with numerous bowel movements, and/or increased intestinal gas.|NCI|N|
C4524097|Structural epilepsies are conceptualized as having a distinct structural brain abnormality that has been demonstrated to be associated with a substantially increased risk of epilepsy in appropriately designed studies. The structural brain abnormality can be acquired (such as due to stroke, trauma or infection) or may be of genetic origin; however, as we currently understand it, the structural brain abnormality is a separate disorder interposed between the acquired or genetic defect and the epilepsy.|MONDO|N|
C4524099|Metabolic epilepsies are conceptualized as having a distinct metabolic abnormality that has been demonstrated to be associated with a substantially increased risk of developing epilepsy in appropriately designed studies. Metabolic disorders have genetic origin; however, the metabolic abnormalities are a separate disorder interposed between the genetic defect and the epilepsy.|MONDO|N|
C4524186|A diffuse large B-cell lymphoma characterized by double expression of MYC and BCL2 proteins without MYC and BCL2 gene aberrations. These lymphomas may have a worse prognosis than other diffuse large B-cell lymphomas, not otherwise specified, but they are not as aggressive as the high-grade B-cell lymphomas, with rearrangements of MYC and BCL2 and/or BCL6 genes.|NCI|N|
C4524187|A localized low-grade follicular lymphoma within the gastrointestinal tract, which is distinct from other gastrointestinal tract follicular lymphomas. It has features that overlap with in situ follicular neoplasia as well as some features resembling an extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue. The prognosis is excellent.|NCI|N|
C4524188|A follicular neoplasia confined to the germinal centers of the lymph nodes, without evidence of disseminated disease. It is characterized by the replacement of a germinal center by neoplastic centrocytes with uniformly intense positivity for BCL2. The surrounding mantle cuff and lymphoid architecture are intact. It has a low rate of progression to follicular lymphoma, but is often associated with prior or synchronous overt lymphoma.|NCI|N|
C4524190|A rare aggressive B-cell non-Hodgkin lymphoma with characteristics of rearrangement in MYC and BCL2 and/or BCL6 (so-called double-hit or triple-hit lymphoma). The category includes double-hit cases with features intermediate between diffuse large B-cell lymphoma (DLBCL) and Burkitt lymphoma, blastoid cases with a double-hit, and cases with a DLBCL not otherwise specified morphology with a double-hit. It refers only to de novo cases, not to lymphomas with a history of pre-existing or coexistent indolent lymphoma. Patients typically present with widespread disease, including involvement of lymph nodes, bone marrow and central nervous system.|SNOMEDCT_US|N|
C4524313|Tumor involves adnexa. No regional lymph node or distant metastasis.|NCI|N|
C4524314|Tumor involves other pelvic tissues. No regional lymph node or distant metastasis.|NCI|N|
C4524319|An elevated concentration of alkaline phosphatase in the urine.|NCI|N|
C4524321|A finding about one or more characteristics of nasal cavity and paranasal sinuses cancer, following the rules of the TNM AJCC v8 classification system. This staging system applies to malignancies that arise in the epithelial lining of the nasal cavity and paranasal sinuses, with the exception of lymphoma and sarcoma. Mucosal melanoma of the nasal cavity and paranasal sinuses is staged according to the classification for mucosal melanoma of the head and neck. (from AJCC 8th Ed.)|NCI|N|
C4524322|A clinical finding about one or more characteristics of nasal cavity and paranasal sinuses cancer, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4524323|A pathologic finding about one or more characteristics of nasal cavity and paranasal sinuses cancer, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4524324|A pathologic finding about one or more characteristics of maxillary sinus cancer, following the rules of the TNM AJCC v8 classification system as they pertain to staging of the primary tumor.|NCI|N|
C4524325|A pathologic finding about one or more characteristics of nasal cavity and ethmoid sinus cancer, following the rules of the TNM AJCC v8 classification system as they pertain to staging of the primary tumor.|NCI|N|
C4524326|A pathologic finding about one or more characteristics of nasal cavity and paranasal sinuses cancer, following the rules of the TNM AJCC v8 classification system as they pertain to staging of regional lymph nodes.|NCI|N|
C4524327|A clinical finding about one or more characteristics of nasal cavity and paranasal sinuses cancer, following the rules of the TNM AJCC v8 classification system as they pertain to staging of regional lymph nodes.|NCI|N|
C4524328|A pathologic finding about one or more characteristics of nasal cavity and paranasal sinuses cancer, following the rules of the TNM AJCC v8 classification system as they pertain to distant metastases.|NCI|N|
C4524329|A clinical finding about one or more characteristics of nasal cavity and paranasal sinuses cancer, following the rules of the TNM AJCC v8 classification system as they pertain to distant metastases.|NCI|N|
C4524330|Maxillary sinus cancer in which the primary tumor cannot be assessed. (from AJCC 8th Ed.)|NCI|N|
C4524331|Maxillary sinus cancer with a finding of carcinoma in situ. (from AJCC 8th Ed.)|NCI|N|
C4524332|Maxillary sinus cancer with tumor limited to the maxillary sinus mucosa with no erosion or destruction of bone. (from AJCC 8th Ed.)|NCI|N|
C4524333|Maxillary sinus cancer with tumor causing bone erosion or destruction including extension into the hard palate and/or middle nasal meatus, except extension to posterior wall of maxillary sinus and pterygoid plates. (from AJCC 8th Ed.)|NCI|N|
C4524334|Maxillary sinus cancer with tumor invading any of the following: bone of the posterior wall of maxillary sinus, subcutaneous tissues, floor or medial wall of orbit, pterygoid fossa, or ethmoid sinuses. (from AJCC 8th Ed.)|NCI|N|
C4524335|Maxillary sinus cancer with moderately advanced or very advanced local disease. (from AJCC 8th Ed.)|NCI|N|
C4524336|Maxillary sinus cancer with moderately advanced local disease. Tumor invades anterior orbital contents, skin of cheek, pterygoid plates, infratemporal fossa, cribriform plate, sphenoid or frontal sinuses. (from AJCC 8th Ed.)|NCI|N|
C4524337|Maxillary sinus cancer with very advanced local disease. Tumor invades any of the following: orbital apex, dura, brain, middle cranial fossa, cranial nerves other than maxillary division of trigeminal nerve (V2), nasopharynx, or clivus. (from AJCC 8th Ed.)|NCI|N|
C4524338|Nasal cavity and ethmoid sinus cancer in which the primary tumor cannot be assessed. (from AJCC 8th Ed.)|NCI|N|
C4524339|Nasal cavity and ethmoid sinus cancer with a finding of carcinoma in situ. (from AJCC 8th Ed.)|NCI|N|
C4524340|Nasal cavity and ethmoid sinus cancer with tumor restricted to any one subsite, with or without bony invasion. (from AJCC 8th Ed.)|NCI|N|
C4524341|Nasal cavity and ethmoid sinus cancer with tumor invading two subsites in a single region or extending to involve an adjacent region within the nasoethmoidal complex, with or without bony invasion. (from AJCC 8th Ed.)|NCI|N|
C4524342|Nasal cavity and ethmoid sinus cancer with tumor invading the medial wall or floor of the orbit, maxillary sinus, palate, or cribriform plate. (from AJCC 8th Ed.)|NCI|N|
C4524343|Nasal cavity and ethmoid sinus cancer with moderately advanced or very advanced local disease. (from AJCC 8th Ed.)|NCI|N|
C4524344|Nasal cavity and ethmoid sinus cancer with moderately advanced local disease. Tumor invades any of the following: anterior orbital contents, skin of nose or cheek, minimal extension to anterior cranial fossa, pterygoid plates, sphenoid or frontal sinuses. (from AJCC 8th Ed.)|NCI|N|
C4524345|Nasal cavity and ethmoid sinus cancer with very advanced local disease. Tumor invades any of the following: orbital apex, dura, brain, middle cranial fossa, cranial nerves other than maxillary division of trigeminal nerve (V2), nasopharynx, or clivus. (from AJCC 8th Ed.)|NCI|N|
C4524346|Nasal cavity and paranasal sinuses cancer in which the regional lymph nodes cannot be assessed. (from AJCC 8th Ed.)|NCI|N|
C4524347|Nasal cavity and paranasal sinuses cancer with no metastasis to regional lymph nodes. (from AJCC 8th Ed.)|NCI|N|
C4524348|Nasal cavity and paranasal sinuses cancer with metastasis in a single ipsilateral lymph node, 3 cm or smaller in greatest dimension and ENE(-). (from AJCC 8th Ed.)|NCI|N|
C4524349|Nasal cavity and paranasal sinuses cancer with metastasis in a single ipsilateral lymph node, larger than 3 cm but not larger than 6 cm in greatest dimension and ENE(-); or metastases in multiple ipsilateral lymph nodes , none larger than 6 cm in greatest dimension and ENE(-); or in in bilateral or contralateral lymph nodes, none larger than 6 cm in greatest dimension and ENE(-) . (from AJCC 8th Ed.)|NCI|N|
C4524350|Nasal cavity and paranasal sinuses cancer with metastasis in a single ipsilateral lymph node, larger than 3 cm but not larger than 6 cm in greatest dimension and ENE(-). (from AJCC 8th Ed.)|NCI|N|
C4524351|Nasal cavity and paranasal sinuses cancer with metastases in multiple ipsilateral lymph nodes, none larger than 6 cm in greatest dimension and ENE(-). (from AJCC 8th Ed.)|NCI|N|
C4524352|Nasal cavity and paranasal sinuses cancer with metastases in bilateral or contralateral lymph nodes, none larger than 6 cm in greatest dimension and ENE(-) . (from AJCC 8th Ed.)|NCI|N|
C4524353|Nasal cavity and paranasal sinuses cancer with metastasis in a lymph node larger than 6 cm in greatest dimension and ENE(-); or metastasis in any node(s) with clinically overt ENE(+) . (from AJCC 8th Ed.)|NCI|N|
C4524354|Nasal cavity and paranasal sinuses cancer with metastasis in a lymph node larger than 6 cm in greatest dimension and ENE(-). (from AJCC 8th Ed.)|NCI|N|
C4524355|Nasal cavity and paranasal sinuses cancer with metastasis in any node(s) with clinically overt ENE(+) (ENEc). (from AJCC 8th Ed.)|NCI|N|
C4524356|Nasal cavity and paranasal sinuses cancer in which the regional lymph nodes cannot be assessed. (from AJCC 8th Ed.)|NCI|N|
C4524357|Nasal cavity and paranasal sinuses cancer with no metastasis to regional lymph nodes. (from AJCC 8th Ed.)|NCI|N|
C4524358|Nasal cavity and paranasal sinuses cancer with metastasis in a single ipsilateral lymph node, 3 cm or smaller in greatest dimension and ENE(-). (from AJCC 8th Ed.)|NCI|N|
C4524359|Nasal cavity and paranasal sinuses cancer with metastasis in a single ipsilateral lymph node, 3 cm or smaller in greatest dimension and ENE(+); or metastasis in a single ipsilateral lymph node larger than 3 cm but not larger than 6 cm in greatest dimension and ENE(-); or metastases in multiple ipsilateral lymph nodes , none larger than 6 cm in greatest dimension and ENE(-); or metastases in bilateral or contralateral lymph nodes, none larger than 6 cm in greatest dimension and ENE(-). (from AJCC 8th Ed.)|NCI|N|
C4524360|Nasal cavity and paranasal sinuses cancer with metastasis in a single ipsilateral or contralateral lymph node, 3 cm or smaller in greatest dimension and ENE(+); or metastasis in a single ipsilateral lymph node larger than 3 cm but not larger than 6 cm in greatest dimension and ENE(-). (from AJCC 8th Ed.)|NCI|N|
C4524361|Nasal cavity and paranasal sinuses cancer with metastases in multiple ipsilateral lymph nodes, none larger than 6 cm in greatest dimension and ENE(-). (from AJCC 8th Ed.)|NCI|N|
C4524362|Nasal cavity and paranasal sinuses cancer with metastases in bilateral or contralateral lymph nodes, none larger than 6 cm in greatest dimension and ENE(-). (from AJCC 8th Ed.)|NCI|N|
C4524363|Nasal cavity and paranasal sinuses cancer with metastasis in a lymph node larger than 6 cm in greatest dimension and ENE(-); or metastasis in a single ipsilateral node larger than 3 cm in greatest dimension and ENE(+); or metastases in multiple ipsilateral, contralateral or bilateral nodes, any with ENE(+) . (from AJCC 8th Ed.)|NCI|N|
C4524364|Nasal cavity and paranasal sinuses cancer with metastasis in a lymph node larger than 6 cm in greatest dimension and ENE(-). (from AJCC 8th Ed.)|NCI|N|
C4524365|Nasal cavity and paranasal sinuses cancer with metastasis in a single ipsilateral node larger than 3 cm in greatest dimension and ENE(+); or metastases in multiple ipsilateral, contralateral or bilateral nodes, any with ENE(+) . (from AJCC 8th Ed.)|NCI|N|
C4524366|Nasal cavity and paranasal sinuses cancer without evidence of distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4524367|Nasal cavity and paranasal sinuses cancer with distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4524368|Nasal cavity and paranasal sinuses cancer with distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4524370|A term that refers to the staging of nasal cavity and paranasal sinus carcinoma according to the American Joint Committee on Cancer, 8th edition.|NCI|N|
C4524372|Globoid cell leukodystrophy that occurs in a dog.|NCI|N|
C4524373|Melanoma that occurs in a hamster.|NCI|N|
C4524374|Pancreatic ductal carcinoma that occurs in a hamster.|NCI|N|
C4524375|A very rare benign neoplasm that arises from the lung. It is characterized by the presence of a stromal and an epithelial component. It resembles the adenofibromas that arise from the organs of the female reproductive system.|NCI|N|
C4524376|The reemergence of breast angiosarcoma after a period of remission.|NCI|N|
C4524377|A malignant solid neoplasm that has spread from its original site of growth to nearby tissues or lymph nodes.|NCI|N|
C4524379|A finding about one or more characteristics of laryngeal cancer, following the rules of the TNM AJCC v8 classification system. This staging system applies to the supraglottic, glottic, and subglottic laryngeal cancers. Nonepithelial cancers such as those of lymphoid tissue, soft tissue, bone, and cartilage are not included in this classification. (from AJCC 8th Ed.)|NCI|N|
C4524380|A clinical finding about one or more characteristics of laryngeal cancer, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4524381|A pathologic finding about one or more characteristics of laryngeal cancer, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4524382|A pathologic finding about one or more characteristics of supraglottic cancer, following the rules of the TNM AJCC v8 classification system as they pertain to staging of the primary tumor.|NCI|N|
C4524383|Supraglottic cancer in which the primary tumor cannot be assessed. (from AJCC 8th Ed.)|NCI|N|
C4524384|Supraglottic cancer with a finding of carcinoma in situ. (from AJCC 8th Ed.)|NCI|N|
C4524385|Supraglottic cancer with tumor limited to one subsite of supraglottis with normal vocal cord mobility. (from AJCC 8th Ed.)|NCI|N|
C4524386|Supraglottic cancer with tumor invading the mucosa of more than one adjacent subsite of supraglottis or glottis or region outside the supraglottis (e.g., mucosa of base of the tongue, vallecula, medial wall of pyriform sinus) without fixation of the larynx. (from AJCC 8th Ed.)|NCI|N|
C4524387|Supraglottic cancer with tumor limited to larynx with vocal cord fixation and/or invading any of the following: postcricoid area, preepiglottic space, paraglottic space, and/or inner cortex of thyroid cartilage. (from AJCC 8th Ed.)|NCI|N|
C4524388|Supraglottic cancer with moderately advanced or very advanced disease. (from AJCC 8th Ed.)|NCI|N|
C4524389|Supraglottic cancer with moderately advanced local disease. Tumor invades through the outer cortex of the thyroid cartilage and/or invades tissues beyond the larynx (e.g., trachea, soft tissues of neck including deep extrinsic muscle of the tongue, strap muscles, thyroid, or esophagus). (from AJCC 8th Ed.)|NCI|N|
C4524390|Supraglottic cancer with very advanced local disease. Tumor invades prevertebral space, encases carotid artery, or invades mediastinal structures. (from AJCC 8th Ed.)|NCI|N|
C4524391|A pathologic finding about one or more characteristics of glottic cancer, following the rules of the TNM AJCC v8 classification system as they pertain to staging of the primary tumor.|NCI|N|
C4524392|Glottic cancer in which the primary tumor cannot be assessed. (from AJCC 8th Ed.)|NCI|N|
C4524393|Glottic cancer with a finding of carcinoma in situ. (from AJCC 8th Ed.)|NCI|N|
C4524394|Glottic cancer with tumor limited to the vocal cord(s) (may involve anterior or posterior commissure) with normal mobility. (from AJCC 8th Ed.)|NCI|N|
C4524395|Glottic cancer with tumor limited to one vocal cord. (from AJCC 8th Ed.)|NCI|N|
C4524396|Glottic cancer with tumor involving both vocal cords. (from AJCC 8th Ed.)|NCI|N|
C4524397|Glottic cancer with tumor extending to supraglottis and/or subglottis, and/or with impaired vocal cord mobility. (from AJCC 8th Ed.)|NCI|N|
C4524398|Glottic cancer with tumor limited to the larynx with vocal cord fixation and /or invasion of paraglottic space, and/or inner cortex of the thyroid cartilage. (from AJCC 8th Ed.)|NCI|N|
C4524399|Glottic cancer with moderately advanced or very advanced disease. (from AJCC 8th Ed.)|NCI|N|
C4524400|Glottic cancer with moderately advanced local disease. Tumor invades through the outer cortex of the thyroid cartilage and/or invades tissues beyond the larynx (e.g., trachea, cricoid cartilage, soft tissues of neck including deep extrinsic muscle of the tongue, strap muscles, thyroid, or esophagus). (from AJCC 8th Ed.)|NCI|N|
C4524401|Glottic cancer with very advanced local disease. Tumor invades prevertebral space, encases carotid artery, or invades mediastinal structures. (from AJCC 8th Ed.)|NCI|N|
C4524402|A pathologic finding about one or more characteristics of subglottic cancer, following the rules of the TNM AJCC v8 classification system as they pertain to staging of the primary tumor.|NCI|N|
C4524403|Subglottic cancer in which the primary tumor cannot be assessed. (from AJCC 8th Ed.)|NCI|N|
C4524404|Subglottic cancer with a finding of carcinoma in situ. (from AJCC 8th Ed.)|NCI|N|
C4524405|Subglottic cancer in which the tumor is limited to the subglottis. (from AJCC 8th Ed.)|NCI|N|
C4524406|Subglottic cancer with tumor extending to vocal cord(s) with normal or impaired mobility. (from AJCC 8th Ed.)|NCI|N|
C4524407|Subglottic cancer with tumor limited to the larynx with vocal cord fixation and/or invasion of paraglottic space and/or inner cortex of the thyroid cartilage. (from AJCC 8th Ed.)|NCI|N|
C4524408|Subglottic cancer with moderately advanced or very advanced disease. (from AJCC 8th Ed.)|NCI|N|
C4524409|Subglottic cancer with moderately advanced local disease. Tumor invades cricoid or thyroid cartilage and/or invades tissues beyond the larynx (e.g., trachea, soft tissues of neck including deep extrinsic muscles of the tongue, strap muscles, thyroid, or esophagus). (from AJCC 8th Ed.)|NCI|N|
C4524410|Subglottic cancer with very advanced local disease. Tumor invades prevertebral space, encases carotid artery, or invades mediastinal structures. (from AJCC 8th Ed.)|NCI|N|
C4524411|A clinical finding about one or more characteristics of laryngeal cancer, following the rules of the TNM AJCC v8 classification system as they pertain to staging of regional lymph nodes.|NCI|N|
C4524412|Laryngeal cancer in which the regional lymph nodes cannot be assessed. (from AJCC 8th Ed.)|NCI|N|
C4524413|Laryngeal cancer with no metastasis to regional lymph nodes. (from AJCC 8th Ed.)|NCI|N|
C4524414|Laryngeal cancer with metastasis in a single ipsilateral lymph node, 3 cm or less in greatest dimension and ENE(-). (from AJCC 8th Ed.)|NCI|N|
C4524415|Laryngeal cancer with metastasis in a single ipsilateral lymph node, more than 3 cm but not more than 6 cm in greatest dimension and ENE(-); or metastases in multiple ipsilateral lymph nodes, none more than 6 cm in greatest dimension and ENE(-); or metastasis in bilateral or contralateral lymph nodes, none more than 6 cm in greatest dimension and ENE(-). (from AJCC 8th Ed.)|NCI|N|
C4524416|Laryngeal cancer with metastasis in a single ipsilateral lymph node, more than 3 cm but not more than 6 cm in greatest dimension and ENE(-). (from AJCC 8th Ed.)|NCI|N|
C4524417|Laryngeal cancer with metastases in multiple ipsilateral lymph nodes, none more than 6 cm in greatest dimension and ENE(-). (from AJCC 8th Ed.)|NCI|N|
C4524418|Laryngeal cancer with metastasis in bilateral or contralateral lymph nodes, none more than 6 cm in greatest dimension and ENE(-). (from AJCC 8th Ed.)|NCI|N|
C4524419|Laryngeal cancer with metastasis in a lymph node, more than 6 cm in greatest dimension and ENE(-); or metastasis in any lymph node(s) with clinically overt ENE(+). (from AJCC 8th Ed.)|NCI|N|
C4524420|Laryngeal cancer with metastasis in a lymph node, more than 6 cm in greatest dimension and ENE(-). (from AJCC 8th Ed.)|NCI|N|
C4524421|Laryngeal cancer with metastasis in any lymph node(s) with clinically overt ENE(+). (from AJCC 8th Ed.)|NCI|N|
C4524422|Laryngeal cancer in which the regional lymph nodes cannot be assessed. (from AJCC 8th Ed.)|NCI|N|
C4524423|Laryngeal cancer with no metastasis to regional lymph nodes. (from AJCC 8th Ed.)|NCI|N|
C4524424|Laryngeal cancer with metastasis in a single ipsilateral lymph node, 3 cm or less in greatest dimension and ENE(-). (from AJCC 8th Ed.)|NCI|N|
C4524425|Laryngeal cancer with metastasis in a single ipsilateral lymph node, 3 cm or less in greatest dimension and ENE(+); or metastasis in a single ipsilateral lymph node, more than 3 cm but not more than 6 cm in greatest dimension and ENE(-); or metastases in multiple ipsilateral lymph nodes, none more than 6 cm in greatest dimension and ENE(-); or metastasis in bilateral or contralateral lymph nodes, none more than 6 cm in greatest dimension and ENE(-). (from AJCC 8th Ed.)|NCI|N|
C4524426|Laryngeal cancer with metastasis in a single ipsilateral or contralateral lymph node, 3 cm or less in greatest dimension and ENE(+); or metastasis in a single ipsilateral lymph node, more than 3 cm but not more than 6 cm in greatest dimension and ENE(-). (from AJCC 8th Ed.)|NCI|N|
C4524427|Laryngeal cancer with metastases in multiple ipsilateral lymph nodes, none more than 6 cm in greatest dimension and ENE(-). (from AJCC 8th Ed.)|NCI|N|
C4524428|Laryngeal cancer with metastasis in bilateral or contralateral lymph nodes, none more than 6 cm in greatest dimension and ENE(-). (from AJCC 8th Ed.)|NCI|N|
C4524429|Laryngeal cancer with metastasis in a lymph node, more than 6 cm in greatest dimension and ENE(-); or metastasis in a single ipsilateral lymph node, more than 3 cm in greatest dimension and ENE(+); or metastases in multiple ipsilateral, contralateral, or bilateral lymph nodes and any with ENE(+). (from AJCC 8th Ed.)|NCI|N|
C4524430|Laryngeal cancer with metastasis in a lymph node, more than 6 cm in greatest dimension and ENE(-). (from AJCC 8th Ed.)|NCI|N|
C4524431|Laryngeal cancer with metastasis in a single ipsilateral lymph node, more than 3 cm in greatest dimension and ENE(+); or metastases in multiple ipsilateral, contralateral, or bilateral lymph nodes and any with ENE(+). (from AJCC 8th Ed.)|NCI|N|
C4524432|A clinical finding about one or more characteristics of laryngeal cancer, following the rules of the TNM AJCC v8 classification system as they pertain to distant metastases.|NCI|N|
C4524433|Laryngeal cancer without evidence of distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4524434|Laryngeal cancer with distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4524435|A pathologic finding about one or more characteristics of laryngeal cancer, following the rules of the TNM AJCC v8 classification system as they pertain to distant metastases.|NCI|N|
C4524436|Laryngeal cancer with distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4524437|A term that refers to the staging of laryngeal carcinoma according to the American Joint Committee on Cancer, 8th edition.|NCI|N|
C4524438|DNA sequence rearrangements that are detected or characterized by presence of a single type of protein molecule in a cell population.|NCI|N|
C4524439|DNA sequence rearrangements that are detected or characterized by presence of multiple types of protein molecules in a cell population.|NCI|N|
C4524440|A finding about one or more characteristics of mucosal melanoma of the head and neck, following the rules of the TNM AJCC v8 classification system. It applies to mucosal melanomas arising in the nasal cavity, paranasal sinuses, oral cavity, oropharynx, nasopharynx, larynx, and hypopharynx. No prognostic stage grouping is proposed in AJCC 8th edition. (from AJCC 8th Ed.)|NCI|N|
C4524441|A clinical finding about one or more characteristics of mucosal melanoma of the head and neck, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4524442|A clinical finding about one or more characteristics of mucosal melanoma of the head and neck, following the rules of the TNM AJCC v8 classification system as they pertain to distant metastases.|NCI|N|
C4524443|Mucosal melanoma of the head and neck without evidence of distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4524444|Mucosal melanoma of the head and neck with distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4524445|A pathologic finding about one or more characteristics of mucosal melanoma of the head and neck, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4524447|A pathologic finding about one or more characteristics of mucosal melanoma of the head and neck, following the rules of the TNM AJCC v8 classification system as they pertain to distant metastases.|NCI|N|
C4524448|Mucosal melanoma of the head and neck with distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4524449|A pathologic finding about one or more characteristics of mucosal melanoma of the head and neck, following the rules of the TNM AJCC v8 classification system as they pertain to staging of the primary tumor.|NCI|N|
C4524450|Mucosal melanoma of the head and neck with tumor limited to the mucosa and immediately underlying soft tissue, regardless of thickness or greatest dimension; for example, polypoid nasal disease, pigmented or nonpigmented lesions of the oral cavity, pharynx, or larynx. (from AJCC 8th Ed.)|NCI|N|
C4524451|Mucosal melanoma of the head and neck with moderately advanced or very advanced disease. (from AJCC 8th Ed.)|NCI|N|
C4524452|Mucosal melanoma of the head and neck with moderately advanced disease. Tumor involves deep soft tissue, cartilage, bone, or overlying skin. (from AJCC 8th Ed.)|NCI|N|
C4524453|Mucosal melanoma of the head and neck with very advanced disease. Tumor involves brain, dura, skull base, lower cranial nerves (IX, X, XI, XII), masticator space, carotid artery, prevertebral space, or mediastinal structures. (from AJCC 8th Ed.)|NCI|N|
C4524454|A pathologic finding about one or more characteristics of mucosal melanoma of the head and neck, following the rules of the TNM AJCC v8 classification system as they pertain to staging of regional lymph nodes.|NCI|N|
C4524455|Mucosal melanoma of the head and neck with no metastases to regional lymph nodes. (from AJCC 8th Ed.)|NCI|N|
C4524456|Mucosal melanoma of the head and neck with regional lymph node metastases. (from AJCC 8th Ed.)|NCI|N|
C4524457|A term that refers to the staging of mucosal melanoma of the head and neck according to the American Joint Committee on Cancer, 7th edition. No prognostic stage grouping is proposed in the 8th edition.|NCI|N|
C4524458|A melanoma that arises in the mucosa of the nasal cavity, paranasal sinuses, oral cavity, oropharynx, nasopharynx, larynx, and hypopharynx.|NCI|N|
C4524462|A precancerous neoplastic process affecting the oral mucosa. It is characterized by the presence of dysplasia in the mucosal epithelium.|NCI|N|
C4524463|Thyroid gland carcinoma that has spread from its original site of growth to another anatomic site.|NCI|N|
C4524464|A finding about one or more characteristics of cutaneous squamous cell carcinoma of the head and neck, following the rules of the TNM AJCC v8 classification system. It applies to cutaneous squamous cell carcinoma of the head and neck and all other nonmelanoma skin carcinomas of the head and neck (except Merkel cell carcinoma). It also applies to the adenocarcinomas that develop from eccrine or sebaceous glands and to the spindle cell variant of cutaneous squamous cell carcinoma. (from AJCC 8th Ed.)|NCI|N|
C4524465|A clinical finding about one or more characteristics of cutaneous squamous cell carcinoma of the head and neck, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4524466|A pathologic finding about one or more characteristics of cutaneous squamous cell carcinoma of the head and neck, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4524468|A clinical finding about one or more characteristics of cutaneous squamous cell carcinoma of the head and neck, following the rules of the TNM AJCC v8 classification system as they pertain to distant metastases.|NCI|N|
C4524469|Cutaneous squamous cell carcinoma of the head and neck without evidence of distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4524470|Cutaneous squamous cell carcinoma of the head and neck with distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4524471|A pathologic finding about one or more characteristics of cutaneous squamous cell carcinoma of the head and neck, following the rules of the TNM AJCC v8 classification system as they pertain to distant metastases.|NCI|N|
C4524472|Cutaneous squamous cell carcinoma of the head and neck with distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4524473|A pathologic finding about one or more characteristics of cutaneous squamous cell carcinoma of the head and neck, following the rules of the TNM AJCC v8 classification system as they pertain to staging of the primary tumor.|NCI|N|
C4524474|Cutaneous squamous cell carcinoma of the head and neck in which the primary tumor cannot be identified. (from AJCC 8th Ed.)|NCI|N|
C4524475|Cutaneous squamous cell carcinoma of the head and neck with a finding of carcinoma in situ. (from AJCC 8th Ed.)|NCI|N|
C4524476|Cutaneous squamous cell carcinoma of the head and neck with tumor smaller than 2 cm in greatest dimension. (from AJCC 8th Ed.)|NCI|N|
C4524477|Cutaneous squamous cell carcinoma of the head and neck with tumor 2 cm or larger, but smaller than 4 cm in greatest dimension. (from AJCC 8th Ed.)|NCI|N|
C4524478|Cutaneous squamous cell carcinoma of the head and neck with tumor 4 cm or larger in greatest dimension or minor bone erosion or perineural invasion or deep invasion. Deep invasion is defined as invasion beyond the subcutaneous fat or larger than 6 mm; perineural invasion for T3 classification is defined as tumor cells within the nerve sheath of a nerve lying deeper than the dermis or measuring 0.1 mm or larger in caliber, or presenting with clinical or radiographic involvement of named nerves without skull base invasion or transgression. (from AJCC 8th Ed.)|NCI|N|
C4524479|Cutaneous squamous cell carcinoma of the head and neck with gross cortical bone/marrow, skull base invasion and/or skull base foramen invasion. (from AJCC 8th Ed.)|NCI|N|
C4524480|Cutaneous squamous cell carcinoma of the head and neck with gross cortical bone/marrow invasion. (from AJCC 8th Ed.)|NCI|N|
C4524481|Cutaneous squamous cell carcinoma of the head and neck with skull base invasion and/or skull base foramen involvement. (from AJCC 8th Ed.)|NCI|N|
C4524482|A clinical finding about one or more characteristics of cutaneous squamous cell carcinoma of the head and neck, following the rules of the TNM AJCC v8 classification system as they pertain to staging of regional lymph nodes.|NCI|N|
C4524483|Cutaneous squamous cell carcinoma of the head and neck in which the regional lymph nodes cannot be assessed. (from AJCC 8th Ed.)|NCI|N|
C4524484|Cutaneous squamous cell carcinoma of the head and neck without metastasis in the regional lymph nodes. (from AJCC 8th Ed.)|NCI|N|
C4524485|Cutaneous squamous cell carcinoma of the head and neck with metastasis in a single ipsilateral lymph node, 3 cm or smaller in greatest dimension and ENE(-). (from AJCC 8th Ed.)|NCI|N|
C4524486|Cutaneous squamous cell carcinoma of the head and neck with metastasis in a single ipsilateral lymph node larger than 3 cm but not larger than 6 cm in greatest dimension and ENE(-); or metastases in multiple ipsilateral lymph nodes, none larger than 6 cm in greatest dimension and ENE(-); or metastases in bilateral or contralateral lymph nodes, none larger than 6 cm in greatest dimension and ENE(-). (from AJCC 8th Ed.)|NCI|N|
C4524487|Cutaneous squamous cell carcinoma of the head and neck with metastasis in a single ipsilateral lymph node larger than 3 cm but not larger than 6 cm in greatest dimension and ENE(-). (from AJCC 8th Ed.)|NCI|N|
C4524488|Cutaneous squamous cell carcinoma of the head and neck with metastases in multiple ipsilateral lymph nodes, none larger than 6 cm in greatest dimension and ENE(-). (from AJCC 8th Ed.)|NCI|N|
C4524489|Cutaneous squamous cell carcinoma of the head and neck with metastases in bilateral or contralateral lymph nodes, none larger than 6 cm in greatest dimension and ENE(-). (from AJCC 8th Ed.)|NCI|N|
C4524490|Cutaneous squamous cell carcinoma of the head and neck with metastasis in a lymph node larger than 6 cm in greatest dimension and ENE(-); or metastasis in any lymph node(s) and clinically overt ENE(+). (from AJCC 8th Ed.)|NCI|N|
C4524491|Cutaneous squamous cell carcinoma of the head and neck with metastasis in a lymph node larger than 6 cm in greatest dimension and ENE(-). (from AJCC 8th Ed.)|NCI|N|
C4524492|A pathologic finding about one or more characteristics of cutaneous squamous cell carcinoma of the head and neck, following the rules of the TNM AJCC v8 classification system as they pertain to staging of regional lymph nodes.|NCI|N|
C4524493|Cutaneous squamous cell carcinoma of the head and neck in which the regional lymph nodes cannot be assessed. (from AJCC 8th Ed.)|NCI|N|
C4524494|Cutaneous squamous cell carcinoma of the head and neck without metastasis in the regional lymph nodes. (from AJCC 8th Ed.)|NCI|N|
C4524495|Cutaneous squamous cell carcinoma of the head and neck with metastasis in a single ipsilateral lymph node, 3 cm or smaller in greatest dimension and ENE(-). (from AJCC 8th Ed.)|NCI|N|
C4524496|Cutaneous squamous cell carcinoma of the head and neck with metastasis in a single ipsilateral lymph node, 3 cm or smaller in greatest dimension and ENE(+); or metastasis in a single ipsilateral lymph node larger than 3 cm but not larger than 6 cm in greatest dimension and ENE(-); or metastases in multiple ipsilateral lymph nodes, none larger than 6 cm in greatest dimension and ENE(-); or metastases in bilateral or contralateral lymph nodes, none larger than 6 cm in greatest dimension and ENE(-). (from AJCC 8th Ed.)|NCI|N|
C4524497|Cutaneous squamous cell carcinoma of the head and neck with metastasis in a single ipsilateral or contralateral lymph node, 3 cm or smaller in greatest dimension and ENE(+); or metastasis in a single ipsilateral lymph node larger than 3 cm but not larger than 6 cm in greatest dimension and ENE(-). (from AJCC 8th Ed.)|NCI|N|
C4524498|Cutaneous squamous cell carcinoma of the head and neck with metastases in multiple ipsilateral lymph nodes, none larger than 6 cm in greatest dimension and ENE(-). (from AJCC 8th Ed.)|NCI|N|
C4524499|Cutaneous squamous cell carcinoma of the head and neck with metastases in bilateral or contralateral lymph nodes, none larger than 6 cm in greatest dimension and ENE(-). (from AJCC 8th Ed.)|NCI|N|
C4524500|Cutaneous squamous cell carcinoma of the head and neck with metastasis in a lymph node larger than 6 cm in greatest dimension and ENE(-); or metastasis in a single ipsilateral lymph node larger than 3 cm in greatest dimension and ENE(+); or metastases in multiple ipsilateral, contralateral, or bilateral lymph nodes, any with ENE(+). (from AJCC 8th Ed.)|NCI|N|
C4524501|Cutaneous squamous cell carcinoma of the head and neck with metastasis in a lymph node larger than 6 cm in greatest dimension and ENE(-). (from AJCC 8th Ed.)|NCI|N|
C4524502|Cutaneous squamous cell carcinoma of the head and neck with metastasis in a single ipsilateral lymph node larger than 3 cm in greatest dimension and ENE(+); or metastases in multiple ipsilateral, contralateral, or bilateral lymph nodes, any with ENE(+). (from AJCC 8th Ed.)|NCI|N|
C4524503|Cutaneous squamous cell carcinoma of the head and neck with metastasis in any lymph node(s) and ENE(+). (from AJCC 8th Ed.)|NCI|N|
C4524517|A squamous cell carcinoma that arises from the skin of the head and neck.|NCI|N|
C4524518|A term that refers to the staging of cutaneous squamous cell carcinoma of the head and neck according to the American Joint Committee on Cancer, 8th edition.|NCI|N|
C4524520|Stage 0 includes: Tis, N0, M0. Tis: Carcinoma in situ. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4524521|Stage I includes: T1, N0, M0. T1: Tumor smaller than 2 cm in greatest dimension. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4524522|Stage II includes: T2, N0, M0. T2: Tumor 2 cm or larger, but smaller than 4 cm in greatest dimension. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4524523|Stage III includes: (T3, N0, M0); (T1, N1, M0); (T2, N1, M0); (T3, N1, M0). T3: Tumor 4 cm or larger in greatest dimension or minor bone erosion or perineural invasion or deep invasion. Deep invasion is defined as invasion beyond the subcutaneous fat or larger than 6 mm; perineural invasion for T3 classification is defined as tumor cells within the nerve sheath of a nerve lying deeper than the dermis or measuring 0.1 mm or larger in caliber, or presenting with clinical or radiographic involvement of named nerves without skull base invasion or transgression. T1: Tumor smaller than 2 cm in greatest dimension. T2: Tumor 2 cm or larger, but smaller than 4 cm in greatest dimension. N0: No regional lymph node metastasis. N1: Metastasis in a single ipsilateral lymph node, 3 cm or smaller in greatest dimension and ENE(-). M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4524524|Stage IV includes: (T1, N2, M0); (T2, N2, M0); (T3, N2, M0); (Any T, N3, M0); (T4, Any N, M0); (Any T, Any N, M1). T1: Tumor smaller than 2 cm in greatest dimension. T2: Tumor 2 cm or larger, but smaller than 4 cm in greatest dimension. T3: Tumor 4 cm or larger in greatest dimension or minor bone erosion or perineural invasion or deep invasion. Deep invasion is defined as invasion beyond the subcutaneous fat or larger than 6 mm; perineural invasion for T3 classification is defined as tumor cells within the nerve sheath of a nerve lying deeper than the dermis or measuring 0.1 mm or larger in caliber, or presenting with clinical or radiographic involvement of named nerves without skull base invasion or transgression. T4: Tumor with gross cortical bone/marrow, skull base invasion and/or skull base foramen invasion. N2: Metastasis in a single ipsilateral lymph node, 3 cm or smaller in greatest dimension and ENE(+); or metastasis in a single ipsilateral lymph node larger than 3 cm but not larger than 6 cm in greatest dimension and ENE(-); or metastases in multiple ipsilateral lymph nodes, none larger than 6 cm in greatest dimension and ENE(-); or metastases in bilateral or contralateral lymph nodes, none larger than 6 cm in greatest dimension and ENE(-). N3: Metastasis in a lymph node larger than 6 cm in greatest dimension and ENE(-); or metastasis in a single ipsilateral lymph node larger than 3 cm in greatest dimension and ENE(+); or metastases in multiple ipsilateral, contralateral, or bilateral lymph nodes, any with ENE(+). M0: No distant metastasis. M1: Distant metastasis. (AJCC 8th ed.)|NCI|N|
C4524593|A finding about one or more characteristics of digestive system cancer, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4524595|A finding about one or more characteristics of upper gastrointestinal tract cancer, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4524597|A finding about one or more characteristics of esophagus and esophagogastric junction cancer, following the rules of the TNM AJCC v8 classification system. This staging system applies to carcinomas including squamous cell carcinoma, adenocarcinoma, adenosquamous carcinoma, undifferentiated carcinoma, neuroendocrine cancers, and adenocarcinoma with neuroendocrine features. Sarcomas, nonepithelial cancers, and gastrointestinal stromal tumors are not staged using this staging system. (from AJCC 8th Ed.)|NCI|N|
C4524598|A clinical finding about one or more characteristics of esophagus and esophagogastric junction cancer, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4524599|Esophagus and esophagogastric junction cancer without evidence of distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4524600|Esophagus and esophagogastric junction cancer with distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4524601|A pathologic finding about one or more characteristics of esophagus and esophagogastric junction cancer, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4524602|A pathologic finding about one or more characteristics of esophagus and esophagogastric junction cancer, following the rules of the TNM AJCC v8 classification system as they pertain to distant metastases.|NCI|N|
C4524603|A clinical finding about one or more characteristics of esophagus and esophagogastric junction cancer, following the rules of the TNM AJCC v8 classification system as they pertain to distant metastases.|NCI|N|
C4524604|Esophagus and esophagogastric junction cancer with distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4524605|A pathologic finding about one or more characteristics of esophagus and esophagogastric junction cancer, following the rules of the TNM AJCC v8 classification system as they pertain to staging of the primary tumor.|NCI|N|
C4524606|Esophagus and esophagogastric junction cancer in which the primary tumor cannot be assessed. (from AJCC 8th Ed.)|NCI|N|
C4524607|Esophagus and esophagogastric junction cancer with no evidence of primary tumor. (from AJCC 8th Ed.)|NCI|N|
C4524608|Esophagus and esophagogastric junction cancer with a finding of high-grade dysplasia, defined as malignant cells confined to the epithelium by the basement membrane. (from AJCC 8th Ed.)|NCI|N|
C4524609|Esophagus and esophagogastric junction cancer with tumor invading the lamina propria, muscularis mucosae, or submucosa. (from AJCC 8th Ed.)|NCI|N|
C4524610|Esophagus and esophagogastric junction cancer with tumor invading the lamina propria or muscularis mucosae. (from AJCC 8th Ed.)|NCI|N|
C4524611|Esophagus and esophagogastric junction cancer with tumor invading the submucosa. (from AJCC 8th Ed.)|NCI|N|
C4524612|Esophagus and esophagogastric junction cancer with tumor invading the muscularis propria. (from AJCC 8th Ed.)|NCI|N|
C4524613|Esophagus and esophagogastric junction cancer with tumor invading adventitia. (from AJCC 8th Ed.)|NCI|N|
C4524614|Esophagus and esophagogastric junction cancer with tumor invading adjacent structures. (from AJCC 8th Ed.)|NCI|N|
C4524615|Esophagus and esophagogastric junction cancer with tumor invading the pleura, pericardium, azygos vein, diaphragm, or peritoneum. (from AJCC 8th Ed.)|NCI|N|
C4524616|Esophagus and esophagogastric junction cancer with tumor invading other adjacent structures, such as the aorta, vertebral body, or airway. (from AJCC 8th Ed.)|NCI|N|
C4524617|A pathologic finding about one or more characteristics of esophagus and esophagogastric junction cancer, following the rules of the TNM AJCC v8 classification system as they pertain to staging of regional lymph nodes.|NCI|N|
C4524618|Esophagus and esophagogastric junction cancer in which the regional lymph nodes cannot be assessed. (from AJCC 8th Ed.)|NCI|N|
C4524619|Esophagus and esophagogastric junction cancer with no metastasis to regional lymph nodes. (from AJCC 8th Ed.)|NCI|N|
C4524620|Esophagus and esophagogastric junction cancer with metastasis in one or two regional lymph nodes. (from AJCC 8th Ed.)|NCI|N|
C4524621|Esophagus and esophagogastric junction cancer with metastasis in three to six regional lymph nodes. (from AJCC 8th Ed.)|NCI|N|
C4524622|Esophagus and esophagogastric junction cancer with metastasis in seven or more regional lymph nodes. (from AJCC 8th Ed.)|NCI|N|
C4524623|Location of esophageal squamous cell carcinoma is defined by the position of the epicenter of the tumor in the esophagus. Location plays a role in the stage grouping of esophageal squamous carcinomas. (from AJCC 8th Ed.)|NCI|N|
C4524624|Esophageal squamous cell carcinoma with unknown location. (from AJCC 8th Ed.)|NCI|N|
C4524625|Esophageal squamous cell carcinoma located in the cervical esophagus to lower border of azygos vein. (from AJCC 8th Ed.)|NCI|N|
C4524626|Esophageal squamous cell carcinoma located in the lower border of azygos vein to lower border of inferior pulmonary vein. (from AJCC 8th Ed.)|NCI|N|
C4524627|Esophageal squamous cell carcinoma located in the lower border of inferior pulmonary vein to stomach, including gastroesophageal junction. (from AJCC 8th Ed.)|NCI|N|
C4524630|Pathologic TNM staging performed with access to postneoadjuvant therapy information only.|NCI|N|
C4524631|A term that refers to the staging of esophageal carcinoma according to the American Joint Committee on Cancer, 8th edition.|NCI|N|
C4524632|A term that refers to the staging of esophageal adenocarcinoma according to the American Joint Committee on Cancer, 8th edition.|NCI|N|
C4524633|A term that refers to the clinical staging of esophageal adenocarcinoma according to the American Joint Committee on Cancer, 8th edition.|NCI|N|
C4524634|A term that refers to the staging of esophageal adenocarcinoma according to the American Joint Committee on Cancer, 7th edition.|NCI|N|
C4524635|A term that refers to the pathologic staging of esophageal adenocarcinoma according to the American Joint Committee on Cancer, 8th edition.|NCI|N|
C4524636|Stage IC includes: (T1, N0, M0, G3); (T2, N0, M0, G1-2). T1: Tumor invades the lamina propria, muscularis mucosae, or submucosa. T2: Tumor invades the muscularis propria. N0: No regional lymph node metastasis. M0: No distant metastasis. G1: Well-differentiated. G2: Moderately differentiated. G3: Poorly differentiated, undifferentiated. (AJCC 8th ed.)|NCI|N|
C4524638|Locoregional neuroblastoma without image defined risk factors (IDRFs).|NCI|N|
C4524639|Locoregional neuroblastoma with one or more image defined risk factors (IDRFs).|NCI|N|
C4524640|Neuroblastoma with distant metastatic disease (except MS).|NCI|N|
C4524641|INRG stage L1 or L2 neuroblastoma with metastatic disease confined to the skin and/or liver and/or bone marrow.|NCI|N|
C4524642|A term that refers to the postneoadjuvant therapy staging of esophageal adenocarcinoma according to the American Joint Committee on Cancer, 8th edition.|NCI|N|
C4524643|A term that refers to the staging of esophageal squamous cell carcinoma according to the American Joint Committee on Cancer, 7th edition.|NCI|N|
C4524644|A term that refers to the staging of esophageal squamous cell carcinoma according to the American Joint Committee on Cancer, 8th edition.|NCI|N|
C4524645|A term that refers to the pathologic staging of esophageal squamous cell carcinoma according to the American Joint Committee on Cancer, 8th edition.|NCI|N|
C4524646|A term that refers to the postneoadjuvant therapy staging of esophageal squamous cell carcinoma according to the American Joint Committee on Cancer, 8th edition.|NCI|N|
C4524647|A variation in the amino acid sequence for the ALK tyrosine kinase receptor protein.|NCI|N|
C4524648|A change in the amino acid residue at position 1170 in the ALK tyrosine kinase receptor protein where arginine has been replaced by another amino acid.|NCI|N|
C4524649|A change in the amino acid residue at position 1174 in the ALK tyrosine kinase receptor protein where phenylalanine has been replaced by another amino acid.|NCI|N|
C4524650|A change in the amino acid residue at position 1245 in the ALK tyrosine kinase receptor protein where phenylalanine has been replaced by another amino acid.|NCI|N|
C4524651|A score assigned to a Curie body segment to indicate the strength of 123I-mIBG uptake.|NCI|N|
C4524652|No metastatic sites within a segment.|NCI|N|
C4524653|One metastatic site within a segment.|NCI|N|
C4524654|More than one metastatic site within a segment.|NCI|N|
C4524655|Diffuse involvement within a segment (>50% of the segment).|NCI|N|
C4524656|No uptake within a segment.|NCI|N|
C4524657|Doubtful uptake within a segment.|NCI|N|
C4524658|Definite uptake within a segment, but less uptake than in the liver.|NCI|N|
C4524659|A nucleotide substitution at position 3509 of the coding sequence of the ALK gene where thymine has been mutated to adenine.|NCI|N|
C4524660|Intense uptake, greater than in the liver.|NCI|N|
C4524661|A change in the amino acid residue at position 1170 in the ALK tyrosine kinase receptor protein where isoleucine has been replaced by asparagine.|NCI|N|
C4524662|A nucleotide substitution at position 3509 of the coding sequence of the ALK gene where thymine has been mutated to guanine.|NCI|N|
C4524663|A change in the amino acid residue at position 1170 in the ALK tyrosine kinase receptor protein where isoleucine has been replaced by serine.|NCI|N|
C4524664|A nucleotide substitution at position 3512 of the coding sequence of the ALK gene where thymine has been mutated to adenine.|NCI|N|
C4524665|A complex nucleotide substitution where the nucleotide sequence at positions 3512 and 3513 of the coding sequence of the ALK gene where thymine-cytosine has been mutated to adenine-thymine.|NCI|N|
C4524666|A nucleotide substitution at position 3833 of the coding sequence of the ALK gene where adenine has been mutated to cytosine.|NCI|N|
C4524667|A change in the amino acid residue at position 1278 in the ALK tyrosine kinase receptor protein where tyrosine has been replaced by serine.|NCI|N|
C4524668|A nucleotide substitution at position 3575 of the coding sequence of the ALK gene where guanine has been mutated to cytosine.|NCI|N|
C4524669|A change in the amino acid residue at position 1192 in the ALK tyrosine kinase receptor protein where arginine has been replaced by proline.|NCI|N|
C4524670|A nucleotide substitution at position 3497 of the coding sequence of the ALK gene where thymine has been mutated to guanine.|NCI|N|
C4524671|A change in the amino acid residue at position 1166 in the ALK tyrosine kinase receptor protein where methionine has been replaced by arginine.|NCI|N|
C4524672|A nucleotide substitution at position 3586 of the coding sequence of the ALK gene where cytosine has been mutated to adenine.|NCI|N|
C4524673|A change in the amino acid residue at position 1196 in the ALK tyrosine kinase receptor protein where leucine has been replaced by methionine.|NCI|N|
C4524674|A nucleotide substitution at position 3383 of the coding sequence of the ALK gene where guanine has been mutated to cytosine.|NCI|N|
C4524675|A change in the amino acid residue at position 1128 in the ALK tyrosine kinase receptor protein where glycine has been replaced by alanine.|NCI|N|
C4524676|A large B-cell lymphoma typically affecting the Waldeyer ring and/or cervical lymph nodes. It occurs most commonly in children and young adults and is low stage. It is characterized by a follicular, follicular and diffuse, or pure diffuse growth pattern resembling follicular lymphoma grade 3B or a diffuse large B-cell lymphoma. Most cases have IG/IRF4 rearrangements. BCL2 rearrangements are not present. Some cases that belong in this category lack an IRF4 rearrangement but have strong IRF4/MUM1 expression. This lymphoma is more aggressive than pediatric-type follicular lymphomas.|NCI|N|
C4524677|A molecular abnormality indicating rearrangement of the IRF4 gene.|NCI|N|
C4524679|Problem associated with the loss of direct anchorage of an implanted device over time or due to an injury.|NCI|N|
C4524680|A device is found to have one or more components incorrectly assembled when delivered to the user facility.|NCI|N|
C4524681|A carcinoma that has spread to the central nervous system from its original site in the breast, through the hematogenous route.|NCI|N|
C4524682|A carcinoma that has spread to the central nervous system from its original site in the lung, through the hematogenous route.|NCI|N|
C4524683|A melanoma that has spread to the central nervous system from its original site of growth, through the hematogenous route.|NCI|N|
C4524684|Problem associated with the device material that results in the material''s inability to maintain the desired shape or support function.|NCI|N|
C4524685|Problem associated with materials comprising the device are split, cut or torn due to external forces (e.g. wrenching or laceration) or internal forces (e.g. exceeding the tensile stress limits belonging to the materials used in the device construction).|NCI|N|
C4524686|Problems associated with the inability of or unexpected removal or separation of the device from its physical location.|NCI|N|
C4524687|Problem associated with the inability to remove or discharge device from the location of use.|NCI|N|
C4524688|Problem associated with the device not discharging as intended.|NCI|N|
C4524689|Problem associated with the lack of movement in the device due parts sticking or seizing.|NCI|N|
C4524690|The device has undesirable sharp edges which can cause harm or damage.|NCI|N|
C4524691|Problem associated with the device or a component unexpectedly being dropped or moving down from an intended place.|NCI|N|
C4524692|Problem associated with the lack of power to run a device.|NCI|N|
C4524694|Problem associated with an intermittent disruption to the power to run the device.|NCI|N|
C4524698|The device delivers unintended electrical shock.|NCI|N|
C4524704|Problem associated with the device unexpectedly powering down.|NCI|N|
C4524705|Problem with any deviation from the documented specifications of a device that relates to audible feedback.|NCI|N|
C4524706|Problem associated with the device ceasing to provide visual feedback.|NCI|N|
C4524707|Problem with any deviation from the documented specifications of the device that relates to tactile feedback, e.g. device vibrational prompt.|NCI|N|
C4524708|A term that refers to the staging of gastroesophageal junction adenocarcinoma according to the American Joint Committee on Cancer, 8th edition.|NCI|N|
C4524709|A term that refers to the clinical staging of gastroesophageal junction adenocarcinoma according to the American Joint Committee on Cancer, 8th edition.|NCI|N|
C4524710|Stage 0 includes: Tis, N0, M0. Tis: High-grade dysplasia, defined as malignant cells confined to the epithelium by the basement membrane. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4524711|Problem with tactile feedback which does not guide a device user to the correct action.|NCI|N|
C4524712|Stage I includes: T1, N0, M0. T1: Tumor invades the lamina propria, muscularis mucosae, or submucosa. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4524713|Stage II includes: IIA: T1, N1, M0; IIB: T2, N0, M0. T1: Tumor invades the lamina propria, muscularis mucosae, or submucosa. T2: Tumor invades the muscularis propria. N0: No regional lymph node metastasis. N1: Tumor with metastasis in one or two regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4524714|Stage IIA includes: T1, N1, M0. T1: Tumor invades the lamina propria, muscularis mucosae, or submucosa. N1: Tumor with metastasis in one or two regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4524715|Stage IIB includes: T2, N0, M0. T2: Tumor invades the muscularis propria. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4524716|Stage III includes: (T2, N1, M0); (T3, N0-1, M0); (T4a, N0-1, M0). T2: Tumor invades the muscularis propria. T3: Tumor invades adventitia. T4a: Tumor invades the pleura, pericardium, azygos vein, diaphragm, or peritoneum N0: No regional lymph node metastasis. N1: Tumor with metastasis in one or two regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4524717|Stage IV includes: IVA: (T1-4a, N2, M0); (T4b, N0-2, M0); (Any T, N3, M0); IVB: (Any T, Any N, M1). T1: Tumor invades the lamina propria, muscularis mucosae, or submucosa. T2: Tumor invades the muscularis propria. T3: Tumor invades adventitia. T4a: Tumor invades the pleura, pericardium, azygos vein, diaphragm, or peritoneum. T4b: Tumor invades other adjacent structures, such as the aorta, vertebral body, or airway. N0: No regional lymph node metastasis. N1: Tumor with metastasis in one or two regional lymph nodes. N2: Tumor with metastasis in three to six regional lymph nodes. N3: Tumor with metastasis in seven or more regional lymph nodes. M0: No distant metastasis. M1: Distant metastasis. (AJCC 8th ed.)|NCI|N|
C4524718|Stage IVA includes: (T1-4a, N2, M0); (T4b, N0-2, M0); (Any T, N3, M0). T1: Tumor invades the lamina propria, muscularis mucosae, or submucosa. T2: Tumor invades the muscularis propria. T3: Tumor invades adventitia. T4a: Tumor invades the pleura, pericardium, azygos vein, diaphragm, or peritoneum. T4b: Tumor invades other adjacent structures, such as the aorta, vertebral body, or airway. N0: No regional lymph node metastasis. N1: Tumor with metastasis in one or two regional lymph nodes. N2: Tumor with metastasis in three to six regional lymph nodes. N3: Tumor with metastasis in seven or more regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4524719|Problem associated with the device ceasing to provide tactile feedback.|NCI|N|
C4524720|Stage IVB includes: Any T, Any N, M1. M1: Distant metastasis. (AJCC 8th ed.)|NCI|N|
C4524721|Problem associated with the energy output from the device being inconsistent over time.|NCI|N|
C4524722|Problem with the device''s intended output of radiation.|NCI|N|
C4524723|A term that refers to the pathologic staging of gastroesophageal junction adenocarcinoma according to the American Joint Committee on Cancer, 8th edition.|NCI|N|
C4524724|Stage 0 includes: Tis, N0, M0, GN/A. Tis: High-grade dysplasia, defined as malignant cells confined to the epithelium by the basement membrane. N0: No regional lymph node metastasis. M0: No distant metastasis. GN/A: Grade non-applicable. (AJCC 8th ed.)|NCI|N|
C4524725|Stage I includes: IA: (T1a, N0, M0, G1); (T1a, N0, M0, GX); IB: (T1a, N0, M0, G2); (T1b, N0, M0, G1-2); (T1b, N0, M0, GX); IC: (T1, N0, M0, G3); (T2, N0, M0, G1-2). T1a: Tumor invades the lamina propria or muscularis mucosae. T1b: Tumor invades the submucosa. T1: Tumor invades the lamina propria, muscularis mucosae, or submucosa. T2: Tumor invades the muscularis propria. N0: No regional lymph node metastasis. M0: No distant metastasis. G1: Well-differentiated. GX: Grade cannot be assessed. G2: Moderately differentiated. G3: Poorly differentiated, undifferentiated. (AJCC 8th ed.)|NCI|N|
C4524726|Stage IA includes: (T1a, N0, M0, G1); (T1a, N0, M0, GX). T1a: Tumor invades the lamina propria or muscularis mucosae. N0: No regional lymph node metastasis. M0: No distant metastasis. G1: Well-differentiated. GX: Grade cannot be assessed. (AJCC 8th ed.)|NCI|N|
C4524727|Stage IB includes: (T1a, N0, M0, G2); (T1b, N0, M0, G1-2); (T1b, N0, M0, GX). T1a: Tumor invades the lamina propria or muscularis mucosae. T1b: Tumor invades the submucosa. N0: No regional lymph node metastasis. M0: No distant metastasis. G1: Well-differentiated. GX: Grade cannot be assessed. G2: Moderately differentiated. (AJCC 8th ed.)|NCI|N|
C4524728|Stage IC includes: (T1, N0, M0, G3); (T2, N0, M0, G1-2). T1: Tumor invades the lamina propria, muscularis mucosae, or submucosa. T2: Tumor invades the muscularis propria. N0: No regional lymph node metastasis. M0: No distant metastasis. G1: Well-differentiated. G2: Moderately differentiated. G3: Poorly differentiated, undifferentiated. (AJCC 8th ed.)|NCI|N|
C4524729|Problem associated with the absence of radiation output from radiological or diagnostic devices.|NCI|N|
C4524730|Stage II includes: IIA: (T2, N0, M0, G3); (T2, N0, M0, GX); IIB: (T1, N1, M0, Any G); (T3, N0, M0, Any G). T2: Tumor invades the muscularis propria. T1: Tumor invades the lamina propria, muscularis mucosae, or submucosa. T3: Tumor invades adventitia. N0: No regional lymph node metastasis. N1: Tumor with metastasis in one or two regional lymph nodes. M0: No distant metastasis. GX: Grade cannot be assessed. G3: Poorly differentiated, undifferentiated. (AJCC 8th ed.)|NCI|N|
C4524731|Device-emitted radiation when it was not supposed to. This applies to devices which are intended to emit radiation, and the radiation being emitted from the correct part of the device, but at an incorrect time.|NCI|N|
C4524732|Stage IIA includes: (T2, N0, M0, G3); (T2, N0, M0, GX). T2: Tumor invades the muscularis propria. N0: No regional lymph node metastasis. M0: No distant metastasis. GX: Grade cannot be assessed. G3: Poorly differentiated, undifferentiated. (AJCC 8th ed.)|NCI|N|
C4524733|Stage IIB includes: (T1, N1, M0, Any G); (T3, N0, M0, Any G). T1: Tumor invades the lamina propria, muscularis mucosae, or submucosa. T3: Tumor invades adventitia. N0: No regional lymph node metastasis. N1: Tumor with metastasis in one or two regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4524734|Device results that cannot be reliably reproduced.|NCI|N|
C4524735|Stage III includes: IIIA: (T1, N2, M0, Any G); (T2, N1, M0, Any G); IIIB: (T2, N2, M0, Any G); (T3, N1-2, M0, Any G); (T4a, N0-1, M0, Any G). T1: Tumor invades the lamina propria, muscularis mucosae, or submucosa. T2: Tumor invades the muscularis propria. T3: Tumor invades adventitia. T4a: Tumor invades the pleura, pericardium, azygos vein, diaphragm, or peritoneum. N0: No regional lymph node metastasis. N1: Tumor with metastasis in one or two regional lymph nodes. N2: Tumor with metastasis in three to six regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4524736|Problem associated with the device which has a warming or heating function, and is producing excessive heat.|NCI|N|
C4524737|Stage IIIA includes: (T1, N2, M0, Any G); (T2, N1, M0, Any G). T1: Tumor invades the lamina propria, muscularis mucosae, or submucosa. T2: Tumor invades the muscularis propria. N1: Tumor with metastasis in one or two regional lymph nodes. N2: Tumor with metastasis in three to six regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4524738|Problem associated with freezing and/or becoming nonfunctional of an application program.|NCI|N|
C4524739|Stage IIIB includes: (T2, N2, M0, Any G); (T3, N1-2, M0, Any G); (T4a, N0-1, M0, Any G). T2: Tumor invades the muscularis propria. T3: Tumor invades adventitia. T4a: Tumor invades the pleura, pericardium, azygos vein, diaphragm, or peritoneum. N0: No regional lymph node metastasis. N1: Tumor with metastasis in one or two regional lymph nodes. N2: Tumor with metastasis in three to six regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4524740|Stage IV includes: IVA: (T4a, N2, M0, Any G); (T4b, N0-2, M0, Any G); (Any T, N3, M0, Any G); IVB: (Any T, Any N, M1, Any G). T4a: Tumor invades the pleura, pericardium, azygos vein, diaphragm, or peritoneum. T4b: Tumor invades other adjacent structures, such as the aorta, vertebral body, or airway. N0: No regional lymph node metastasis. N1: Tumor with metastasis in one or two regional lymph nodes. N2: Tumor with metastasis in three to six regional lymph nodes. N3: Tumor with metastasis in seven or more regional lymph nodes. M0: No distant metastasis. M1: Distant metastasis. (AJCC 8th ed.)|NCI|N|
C4524741|Stage IVA includes: (T4a, N2, M0, Any G); (T4b, N0-2, M0, Any G); (Any T, N3, M0, Any G). T4a: Tumor invades the pleura, pericardium, azygos vein, diaphragm, or peritoneum. T4b: Tumor invades other adjacent structures, such as the aorta, vertebral body, or airway. N0: No regional lymph node metastasis. N1: Tumor with metastasis in one or two regional lymph nodes. N2: Tumor with metastasis in three to six regional lymph nodes. N3: Tumor with metastasis in seven or more regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4524742|Stage IVB includes: Any T, Any N, M1, Any G. M1: Distant metastasis. (AJCC 8th ed.)|NCI|N|
C4524743|A term that refers to the postneoadjuvant therapy staging of gastroesophageal junction adenocarcinoma according to the American Joint Committee on Cancer, 8th edition.|NCI|N|
C4524744|Stage I includes: T0-2, N0, M0. T0: No evidence of primary tumor. T1: Tumor invades the lamina propria, muscularis mucosae, or submucosa. T2: Tumor invades the muscularis propria. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4524745|Stage II includes: T3, N0, M0. T3: Tumor invades adventitia. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4524746|Stage III includes: IIIA: (T0-2, N1, M0); IIIB: (T3, N1, M0); (T0-3, N2, M0); (T4a, N0, M0). T0: No evidence of primary tumor. T1: Tumor invades the lamina propria, muscularis mucosae, or submucosa. T2: Tumor invades the muscularis propria. T3: Tumor invades adventitia. T4a: Tumor invades the pleura, pericardium, azygos vein, diaphragm, or peritoneum. N0: No regional lymph node metastasis. N1: Tumor with metastasis in one or two regional lymph nodes. N2: Tumor with metastasis in three to six regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4524747|Stage IIIA includes: T0-2, N1, M0. T0: No evidence of primary tumor. T1: Tumor invades the lamina propria, muscularis mucosae, or submucosa. T2: Tumor invades the muscularis propria. N1: Tumor with metastasis in one or two regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4524748|Stage IIIB includes: (T3, N1, M0); (T0-3, N2, M0); (T4a, N0, M0). T0: No evidence of primary tumor. T1: Tumor invades the lamina propria, muscularis mucosae, or submucosa. T2: Tumor invades the muscularis propria. T3: Tumor invades adventitia. T4a: Tumor invades the pleura, pericardium, azygos vein, diaphragm, or peritoneum. N0: No regional lymph node metastasis. N1: Tumor with metastasis in one or two regional lymph nodes. N2: Tumor with metastasis in three to six regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4524749|Stage IV includes: IVA: (T4a, N1-2, M0); (T4a, NX, M0); (T4b, N0-2, M0); (Any T, N3, M0); IVB: (Any T, Any N, M1). T4a: Tumor invades the pleura, pericardium, azygos vein, diaphragm, or peritoneum. T4b: Tumor invades other adjacent structures, such as the aorta, vertebral body, or airway. NX: Regional lymph nodes cannot be assessed. N0: No regional lymph node metastasis. N1: Tumor with metastasis in one or two regional lymph nodes. N2: Tumor with metastasis in three to six regional lymph nodes. N3: Tumor with metastasis in seven or more regional lymph nodes. M0: No distant metastasis. M1: Distant metastasis. (AJCC 8th ed.)|NCI|N|
C4524750|Stage IVA includes: (T4a, N1-2, M0); (T4a, NX, M0); (T4b, N0-2, M0); (Any T, N3, M0). T4a: Tumor invades the pleura, pericardium, azygos vein, diaphragm, or peritoneum. T4b: Tumor invades other adjacent structures, such as the aorta, vertebral body, or airway. NX: Regional lymph nodes cannot be assessed. N0: No regional lymph node metastasis. N1: Tumor with metastasis in one or two regional lymph nodes. N2: Tumor with metastasis in three to six regional lymph nodes. N3: Tumor with metastasis in seven or more regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4524751|Stage IVB includes: Any T, Any N, M1. M1: Distant metastasis. (AJCC 8th ed.)|NCI|N|
C4524752|The reemergence of classic Hodgkin lymphoma after a period of remission.|NCI|N|
C4524753|Problem associated with execution problems relating to program or algorithm.|NCI|N|
C4524754|Problem associated with an unintended shut down by malfunction of the application program.|NCI|N|
C4524755|A finding about one or more characteristics of gastric cancer, following the rules of the TNM AJCC v8 classification system. This staging system applies to all carcinomas that arise in the stomach. Gastrointestinal stromal tumors, sarcomas, lymphomas and well-differentiated neuroendocrine tumors (G1 and G2) are not staged using this staging system. (from AJCC 8th Ed.)|NCI|N|
C4524756|A clinical finding about one or more characteristics of gastric cancer, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4524757|A clinical finding about one or more characteristics of gastric cancer, following the rules of the TNM AJCC v8 classification system as they pertain to distant metastases.|NCI|N|
C4524758|Gastric cancer without evidence of distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4524759|Problem associated with a delayed execution relating to program or algorithm.|NCI|N|
C4524760|Gastric cancer with distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4524761|A pathologic finding about one or more characteristics of gastric cancer, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4524762|A pathologic finding about one or more characteristics of gastric cancer, following the rules of the TNM AJCC v8 classification system as they pertain to distant metastases.|NCI|N|
C4524763|Problem associated with intermittent execution relating to program or algorithm.|NCI|N|
C4524764|Gastric cancer with distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4524765|A pathologic finding about one or more characteristics of gastric cancer, following the rules of the TNM AJCC v8 classification system as they pertain to staging of the primary tumor.|NCI|N|
C4524766|Gastric cancer in which the primary tumor cannot be assessed. (from AJCC 8th Ed.)|NCI|N|
C4524767|Gastric cancer with no evidence of primary tumor. (from AJCC 8th Ed.)|NCI|N|
C4524768|Gastric cancer with a finding of carcinoma in situ: intraepithelial tumor without invasion of the lamina propria, high grade dysplasia. (from AJCC 8th Ed.)|NCI|N|
C4524769|Gastric cancer with tumor invading the lamina propria, muscularis mucosae, or submucosa. (from AJCC 8th Ed.)|NCI|N|
C4524770|Gastric cancer with tumor invading the lamina propria or muscularis mucosae. (from AJCC 8th Ed.)|NCI|N|
C4524771|Gastric cancer with tumor invading the submucosa. (from AJCC 8th Ed.)|NCI|N|
C4524772|Gastric cancer with tumor invading the muscularis propria. A tumor may penetrate the muscularis propria with extension into the gastrocolic or gastrohepatic ligaments, or into the greater or lesser omentum, without perforation of the visceral peritoneum covering these structures. In this case, the tumor is classified as T3. If there is perforation of the visceral peritoneum covering the gastric ligaments or the omentum, the tumor should be classified as T4. (from AJCC 8th Ed.)|NCI|N|
C4524773|Gastric cancer with tumor penetrating the subserosal connective tissue without invasion of the visceral peritoneum or adjacent structures. The adjacent structures of the stomach include the spleen, transverse colon, liver, diaphragm, pancreas, abdominal wall, adrenal gland, kidney, small intestine, and retroperitoneum. Intramural extension to the duodenum or esophagus is not considered invasion of an adjacent structure, but is classified using the depth of the greatest invasion in any of these sites. (from AJCC 8th Ed.)|NCI|N|
C4524774|Gastric cancer with tumor invading the serosa (visceral peritoneum) or adjacent structures. The adjacent structures of the stomach include the spleen, transverse colon, liver, diaphragm, pancreas, abdominal wall, adrenal gland, kidney, small intestine, and retroperitoneum. Intramural extension to the duodenum or esophagus is not considered invasion of an adjacent structure, but is classified using the depth of the greatest invasion in any of these sites. (from AJCC 8th Ed.)|NCI|N|
C4524775|Gastric cancer with tumor invading the serosa (visceral peritoneum). (from AJCC 8th Ed.)|NCI|N|
C4524776|Gastric cancer with tumor invading adjacent structures/organs. (from AJCC 8th Ed.)|NCI|N|
C4524777|A pathologic finding about one or more characteristics of gastric cancer, following the rules of the TNM AJCC v8 classification system as they pertain to staging of regional lymph nodes.|NCI|N|
C4524778|Gastric cancer in which the regional lymph node(s) cannot be assessed. (from AJCC 8th Ed.)|NCI|N|
C4524779|Gastric cancer with no metastasis to regional lymph nodes. (from AJCC 8th Ed.)|NCI|N|
C4524780|Gastric cancer with metastasis in one or two regional lymph nodes. (from AJCC 8th Ed.)|NCI|N|
C4524781|Gastric cancer with metastasis in three to six regional lymph nodes. (from AJCC 8th Ed.)|NCI|N|
C4524782|Gastric cancer with metastasis in seven or more regional lymph nodes. (from AJCC 8th Ed.)|NCI|N|
C4524783|Gastric cancer with metastasis in seven to fifteen regional lymph nodes. (from AJCC 8th Ed.)|NCI|N|
C4524784|Gastric cancer with metastasis in sixteen or more regional lymph nodes. (from AJCC 8th Ed.)|NCI|N|
C4524785|Problem associated with the failure of a program or algorithm to execute. Sudden /unexpected interruption to a program''s execution.|NCI|N|
C4524786|Problem associated with a partial linking of the device whereby the device may appear to be connected however only a partial, intermittent or no transfer of liquid, gas, electricity, or information can be accomplished.|NCI|N|
C4524787|Inconsistent or lack of intended communication of data among internal components or with other external devices.|NCI|N|
C4524788|Problem associated with the preparation of the device to begin pumping.|NCI|N|
C4524789|Problem associated with not adequately preparing the device.|NCI|N|
C4524790|Problem associated with the activation of a device.|NCI|N|
C4524791|Problem associated with the detachment or separation of device.|NCI|N|
C4524792|Problem associated with users experiencing difficulty or delay with detachment or separation of the device.|NCI|N|
C4524793|Problem associated with an early and unexpected detachment or separation of the device from the system.|NCI|N|
C4524794|Problem associated with the device fail-safe mechanism, which did not function or function in a non effective way, compromising safe use of the device.|NCI|N|
C4524795|Problem associated with the failure of the device or operator to remove any visible soil, foreign material or organism deposits on the external surfaces, crevices, and joints of the device.|NCI|N|
C4524796|A term that refers to the staging of gastric cancer according to the American Joint Committee on Cancer, 8th edition.|NCI|N|
C4524797|A term that refers to the clinical staging of gastric cancer according to the American Joint Committee on Cancer, 8th edition.|NCI|N|
C4524798|A term that refers to the pathologic staging of gastric cancer according to the American Joint Committee on Cancer, 8th edition.|NCI|N|
C4524799|A term that refers to the postneoadjuvant therapy staging of gastric cancer according to the American Joint Committee on Cancer, 8th edition.|NCI|N|
C4524800|Problem associated with information unable to be read or deciphered.|NCI|N|
C4524801|Problem associated with imprecise, inexact information.|NCI|N|
C4524802|Problem associated with ambiguous, confusing information.|NCI|N|
C4524803|Absence of information e.g. labeling, instruction for use.|NCI|N|
C4524804|Problem associated with incorrect assembly of the device or constituents during maintenance or repair.|NCI|N|
C4524805|Stage IVA includes: (T4b, Any N, M0): T4b: Tumor invades adjacent structures/organs. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4524806|Stage IVB includes: Any T, Any N, M1. M1: Distant metastasis. (AJCC 8th ed.)|NCI|N|
C4524808|A change in the nucleotide sequence of the PTCH1 gene.|NCI|N|
C4524809|A molecular genetic abnormality indicating the presence of multiple copies of the BRAF gene.|NCI|N|
C4524810|A molecular genetic abnormality indicating the presence of multiple copies of the RAF1 gene.|NCI|N|
C4524811|A change in the nucleotide sequence of the RAF1 gene.|NCI|N|
C4524812|A molecular genetic abnormality indicating the presence of multiple copies of the RET gene.|NCI|N|
C4524813|A molecular genetic abnormality indicating the presence of multiple copies of the KIT gene.|NCI|N|
C4524814|A molecular abnormality referring to the loss of at least one copy of the ATM gene.|NCI|N|
C4524815|A change in the nucleotide sequence of the EPHA2 gene.|NCI|N|
C4524816|A change in the nucleotide sequence of the FYN gene.|NCI|N|
C4524817|A change in the nucleotide sequence of the YES1 gene.|NCI|N|
C4524818|A change in the nucleotide sequence of the MTOR gene.|NCI|N|
C4524819|A change in the nucleotide sequence of the CSF1R gene.|NCI|N|
C4524820|A change in the nucleotide sequence of the SRC gene.|NCI|N|
C4524821|A change in the nucleotide sequence of the LCK gene.|NCI|N|
C4524822|A change in the nucleotide sequence of the LYN gene.|NCI|N|
C4524824|A molecular abnormality indicating the presence of an abnormally high level of the Myc proto-oncogene protein.|NCI|N|
C4524825|A cytogenetic abnormality that refers to any translocation involving the long arm of chromosome 11.|NCI|N|
C4524826|A molecular abnormality referring to the loss of at least one copy of the TP53 gene.|NCI|N|
C4524827|A change in the nucleotide sequence of a gene involved in homologous recombination-type DNA repair processes.|NCI|N|
C4524828|A change in the nucleotide sequence of the RB1 gene.|NCI|N|
C4524829|A molecular abnormality indicating rearrangement of the TFE3 gene.|NCI|N|
C4524830|A change in the nucleotide sequence of the SRSF2 gene.|NCI|N|
C4524831|A molecular abnormality referring to the loss of at least one copy of the SRSF2 gene.|NCI|N|
C4524832|A change in the nucleotide sequence of the U2AF1 gene.|NCI|N|
C4524833|A change in the nucleotide sequence of the ZRSR2 gene.|NCI|N|
C4524834|A change in the nucleotide sequence of the SF3B1 gene.|NCI|N|
C4524837|A change in the nucleotide sequence of a gene involved in DNA mismatch repair.|NCI|N|
C4524839|The reemergence of squamous cell carcinoma in the head and neck region after a period of remission.|NCI|N|
C4524842|A paraganglioma that has spread from its original site of growth to nearby tissues or lymph nodes.|NCI|N|
C4524844|A term that refers to the staging of small intestinal cancer according to the American Joint Committee on Cancer, 7th edition.|NCI|N|
C4524849|Problem associated with the use of the device characterized by incorrect assembly of device components, parts or constituents.|NCI|N|
C4524852|Primary amyloidosis that does not respond to treatment.|NCI|N|
C4524853|The reemergence of primary amyloidosis after a period of remission.|NCI|N|
C4524854|A term that refers to the staging of appendiceal carcinoma according to the American Joint Committee on Cancer, 7th edition. Carcinoid tumors are staged separately. (from AJCC 7th Ed.)|NCI|N|
C4524856|Classic Hodgkin lymphoma that is resistant to treatment.|NCI|N|
C4524857|A malignant solid neoplasm that does not respond to treatment.|NCI|N|
C4524858|Plasmacytoma that occurs in a rabbit.|NCI|N|
C4524859|Oral cavity squamous cell carcinoma that occurs in a rabbit.|NCI|N|
C4524860|Cutaneous lymphoma that occurs in a rabbit.|NCI|N|
C4524870|A finding about one or more characteristics of lower gastrointestinal tract cancer, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4524871|A clinical finding about one or more characteristics of anal cancer, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4524872|A clinical finding about one or more characteristics of anal cancer, following the rules of the TNM AJCC v8 classification system as they pertain to distant metastases.|NCI|N|
C4524873|Anal cancer without evidence of distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4524874|Anal cancer with distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4524875|A pathologic finding about one or more characteristics of anal cancer, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4524876|A pathologic finding about one or more characteristics of anal cancer, following the rules of the TNM AJCC v8 classification system as they pertain to distant metastases.|NCI|N|
C4524877|Anal cancer with distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4524878|A pathologic finding about one or more characteristics of anal cancer, following the rules of the TNM AJCC v8 classification system as they pertain to staging of the primary tumor.|NCI|N|
C4524879|Anal cancer in which the primary tumor cannot be assessed. (from AJCC 8th Ed.)|NCI|N|
C4524880|Anal cancer with no evidence of primary tumor. (from AJCC 8th Ed.)|NCI|N|
C4524881|Anal cancer with a finding of high-grade squamous intraepithelial lesion (previously termed carcinoma in situ, Bowen disease, anal intraepithelial neoplasia II-III, high-grade anal intraepithelial neoplasia). (from AJCC 8th Ed.)|NCI|N|
C4524882|Anal cancer with tumor 2 cm or smaller. (from AJCC 8th Ed.)|NCI|N|
C4524883|Anal cancer with tumor larger than 2 cm but equal to or smaller than 5 cm. (from AJCC 8th Ed.)|NCI|N|
C4524884|Anal cancer with tumor larger than 5 cm. (from AJCC 8th Ed.)|NCI|N|
C4524886|A pathologic finding about one or more characteristics of anal cancer, following the rules of the TNM AJCC v8 classification system as they pertain to staging of regional lymph nodes.|NCI|N|
C4524887|Anal cancer in which the regional lymph nodes cannot be assessed. (from AJCC 8th Ed.)|NCI|N|
C4524888|Anal cancer with no metastasis to regional lymph nodes. (from AJCC 8th Ed.)|NCI|N|
C4524889|Anal cancer with metastasis in inguinal, mesorectal, internal iliac, or external iliac nodes. (from AJCC 8th Ed.)|NCI|N|
C4524890|Anal cancer with metastasis in inguinal, mesorectal, or internal iliac lymph nodes. (from AJCC 8th Ed.)|NCI|N|
C4524891|Anal cancer with metastasis in external iliac lymph nodes. (from AJCC 8th Ed.)|NCI|N|
C4524892|Anal cancer with metastasis in external iliac with any N1a nodes. (from AJCC 8th Ed.)|NCI|N|
C4524894|A term that refers to the staging of anal canal cancer according to the American Joint Committee on Cancer, 6th and 7th editions. This staging system applies to carcinomas arising in the anal canal only; melanomas, carcinoid tumors, sarcomas, and perianal tumors are not included. (from AJCC 6th and 7th Eds.)|NCI|N|
C4524895|A term that refers to the staging of anal cancer according to the American Joint Committee on Cancer, 8th edition. This staging system applies to all carcinomas arising in the anal canal, including carcinomas that arise within anorectal fistulas and those arising in the perianal area (anal margin). High-grade neuroendocrine carcinomas (small cell neuroendocrine carcinoma and large cell neuroendocrine carcinoma) are staged using this system. There is no AJCC staging system for anal mucosal melanomas and anal well-differentiated neuroendocrine tumors. (from AJCC 8th Ed.)|NCI|N|
C4524896|Stage IIA includes: T2, N0, M0. T2: Tumor larger than 2 cm but equal to or smaller than 5 cm. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4524897|Stage IIB includes: T3, N0, M0. T3: Tumor larger than 5 cm. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4524898|Stage IIIC includes: (T3, N1, M0); (T4, N1, M0). T3: Tumor larger than 5 cm. T4: Tumor of any size invading adjacent organ(s), such as the vagina, urethra, or bladder. N1: Metastasis in inguinal, mesorectal, internal iliac, or external iliac nodes. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4524913|A finding about one or more characteristics of small intestine cancer, following the rules of the TNM AJCC v8 classification system. This staging system applies to carcinomas of the nonampullary duodenum, jejunum, and ileum. Only adenocarcinomas are assigned a stage group. Nonadenocarcinomas arising in the small intestine should have a TNM assigned but are not assigned a stage classification. (from AJCC 8th Ed.)|NCI|N|
C4524914|A clinical finding about one or more characteristics of small intestine cancer, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4524915|A clinical finding about one or more characteristics of small intestine cancer, following the rules of the TNM AJCC v8 classification system as they pertain to distant metastases.|NCI|N|
C4524916|Small intestine cancer without evidence of distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4524917|Small intestine cancer with distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4524918|A pathologic finding about one or more characteristics of small intestine cancer, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4524919|A pathologic finding about one or more characteristics of small intestine cancer, following the rules of the TNM AJCC v8 classification system as they pertain to distant metastases.|NCI|N|
C4524920|Small intestine cancer with distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4524921|A pathologic finding about one or more characteristics of small intestine cancer, following the rules of the TNM AJCC v8 classification system as they pertain to staging of the primary tumor.|NCI|N|
C4524922|Small intestine cancer with no evidence of primary tumor. (from AJCC 8th Ed.)|NCI|N|
C4524923|Small intestine cancer with a finding of high grade dysplasia/carcinoma in situ. (from AJCC 8th Ed.)|NCI|N|
C4524924|Small intestine cancer with tumor invading the lamina propria or submucosa. (from AJCC 8th Ed.)|NCI|N|
C4524925|Small intestine cancer with tumor invading the lamina propria. (from AJCC 8th Ed.)|NCI|N|
C4524926|A carcinoma that arises from the gastrointestinal system and has metastasized to other anatomic sites.|NCI|N|
C4524927|Small intestine cancer with tumor invading the submucosa. (from AJCC 8th Ed.)|NCI|N|
C4524928|Small intestine cancer with tumor invading the muscularis propria. (from AJCC 8th Ed.)|NCI|N|
C4524929|Small intestine cancer with tumor invading through the muscularis propria into the subserosa, or extending into nonperitonealized perimuscular tissue (mesentery or retroperitoneum) without serosal penetration. For T3 tumors, the nonperitonealized perimuscular tissue is, for the jejunum and ileum, part of the mesentery and, for the duodenum in areas where serosa is lacking, part of the interface with the pancreas. (from AJCC 8th Ed.)|NCI|N|
C4524930|Small intestine cancer with tumor perforating the visceral peritoneum or directly invading other organs or structures (e.g., other loops of small intestine, mesentery of adjacent loops of bowel, and abdominal wall by way of serosa; for duodenum only, invasion of pancreas or bile duct). (from AJCC 8th Ed.)|NCI|N|
C4524954|A pathologic finding about one or more characteristics of small intestine cancer, following the rules of the TNM AJCC v8 classification system as they pertain to staging of regional lymph nodes.|NCI|N|
C4524955|Small intestine cancer in which the regional lymph node(s) cannot be assessed. (from AJCC 8th Ed.)|NCI|N|
C4524956|Small intestine cancer with no metastasis to regional lymph nodes. (from AJCC 8th Ed.)|NCI|N|
C4524957|Small intestine cancer with metastasis in three or more regional lymph nodes. (from AJCC 8th Ed.)|NCI|N|
C4524959|Uterine carcinoma that occurs in a rabbit.|NCI|N|
C4524960|A term that refers to the staging of small intestinal adenocarcinoma according to the American Joint Committee on Cancer, 8th edition. Nonadenocarcinomas arising in the small intestine should have a TNM assigned but are not assigned a stage classification. (from AJCC 8th Ed.)|NCI|N|
C4524961|Stage 0 includes: Tis, N0, M0. Tis: High grade dysplasia/carcinoma in situ. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4524962|Stage I includes: T1-2, N0, M0. T1: Tumor invading the lamina propria or submucosa. T2: Tumor invading the muscularis propria. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4524963|Stage II includes: IIA: T3, N0, M0; IIB: T4, N0, M0. T3: Tumor invading through the muscularis propria into the subserosa, or extending into nonperitonealized perimuscular tissue (mesentery or retroperitoneum) without serosal penetration. For T3 tumors, the nonperitonealized perimuscular tissue is, for the jejunum and ileum, part of the mesentery and, for the duodenum in areas where serosa is lacking, part of the interface with the pancreas. T4: Tumor perforating the visceral peritoneum or directly invading other organs or structures (e.g., other loops of small intestine, mesentery of adjacent loops of bowel, and abdominal wall by way of serosa; for duodenum only, invasion of pancreas or bile duct). N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4524964|Stage IIA includes: T3, N0, M0. T3: Tumor invading through the muscularis propria into the subserosa, or extending into nonperitonealized perimuscular tissue (mesentery or retroperitoneum) without serosal penetration. For T3 tumors, the nonperitonealized perimuscular tissue is, for the jejunum and ileum, part of the mesentery and, for the duodenum in areas where serosa is lacking, part of the interface with the pancreas. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4524965|Stage IIB includes: T4, N0, M0. T4: Tumor perforating the visceral peritoneum or directly invading other organs or structures (e.g., other loops of small intestine, mesentery of adjacent loops of bowel, and abdominal wall by way of serosa; for duodenum only, invasion of pancreas or bile duct). N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4524966|Stage III includes: IIIA: Any T, N1, M0; IIIB: Any T, N2, M0. N1: Metastasis in one or two regional lymph nodes. N2: Metastasis in three or more regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4524967|Stage IIIA includes: Any T, N1, M0. N1: Metastasis in one or two regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4524968|Stage IIIB includes: Any T, N2, M0. N2: Metastasis in three or more regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4524969|Stage IV includes: Any T, Any N, M1. M1: Distant metastasis. (AJCC 8th ed.)|NCI|N|
C4525003|A finding about one or more characteristics of appendiceal cancer, following the rules of the TNM AJCC v8 classification system. Carcinomas and well-differentiated neuroendocrine tumors (carcinoids) are separately categorized. (from AJCC 8th Ed.)|NCI|N|
C4525004|A finding about one or more characteristics of appendiceal carcinoma, following the rules of the TNM AJCC v8 classification system. This staging system applies to carcinomas of the appendix, including high-grade neuroendocrine carcinomas, mixed adenoneuroendocrine carcinomas, and goblet cell carcinoids. Well-differentiated neuroendocrine tumors (carcinoids) are staged according to the classification for neuroendocrine tumors of the appendix. (from AJCC 8th Ed.)|NCI|N|
C4525005|A clinical finding about one or more characteristics of appendiceal carcinoma, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4525006|A clinical finding about one or more characteristics of appendiceal carcinoma, following the rules of the TNM AJCC v8 classification system as they pertain to distant metastases.|NCI|N|
C4525007|Appendiceal carcinoma without evidence of distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4525008|Appendiceal carcinoma with distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4525009|Appendiceal carcinoma with intraperitoneal acellular mucin, without identifiable tumor cells in the disseminated peritoneal mucinous deposits. (from AJCC 8th Ed.)|NCI|N|
C4525010|Appendiceal carcinoma with intraperitoneal metastasis only, including peritoneal mucinous deposits containing tumor cells. (from AJCC 8th Ed.)|NCI|N|
C4525011|A pathologic finding about one or more characteristics of appendiceal carcinoma, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4525012|A pathologic finding about one or more characteristics of appendiceal carcinoma, following the rules of the TNM AJCC v8 classification system as they pertain to distant metastases.|NCI|N|
C4525013|Appendiceal carcinoma with distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4525014|Appendiceal carcinoma with intraperitoneal acellular mucin, without identifiable tumor cells in the disseminated peritoneal mucinous deposits. (from AJCC 8th Ed.)|NCI|N|
C4525015|Appendiceal carcinoma with intraperitoneal metastasis only, including peritoneal mucinous deposits containing tumor cells. (from AJCC 8th Ed.)|NCI|N|
C4525016|Appendiceal carcinoma with metastasis to sites other than peritoneum. (from AJCC 8th Ed.)|NCI|N|
C4525017|A pathologic finding about one or more characteristics of appendiceal carcinoma, following the rules of the TNM AJCC v8 classification system as they pertain to staging of the primary tumor.|NCI|N|
C4525018|Appendiceal carcinoma in which the primary tumor cannot be assessed. (from AJCC 8th Ed.)|NCI|N|
C4525019|Appendiceal carcinoma with no evidence of primary tumor. (from AJCC 8th Ed.)|NCI|N|
C4525020|Appendiceal carcinoma with a finding of carcinoma in situ (intramucosal carcinoma; invasion of the lamina propria or extension into but not through the muscularis mucosae). (from AJCC 8th Ed.)|NCI|N|
C4525021|Low-grade appendiceal mucinous neoplasm confined by the muscularis propria. Acellular mucin or mucinous epithelium may invade into the muscularis propria. T1 and T2 are not applicable to LAMN. Acellular mucin or mucinous epithelium that extends into the subserosa or serosa should be classified as T3 or T4a, respectively. (from AJCC 8th Ed.)|NCI|N|
C4525022|Appendiceal carcinoma with tumor invading the submucosa (through the muscularis mucosa but not into the muscularis propria). (from AJCC 8th Ed.)|NCI|N|
C4525023|Appendiceal carcinoma with tumor invading the muscularis propria. (from AJCC 8th Ed.)|NCI|N|
C4525024|Appendiceal carcinoma with tumor invading through the muscularis propria into the subserosa or the mesoappendix. (from AJCC 8th Ed.)|NCI|N|
C4525025|Appendiceal carcinoma with tumor invading the visceral peritoneum, including the acellular mucin or mucinous epithelium involving the serosa of the appendix or mesoappendix, and/or directly invading adjacent organs or structures. (from AJCC 8th Ed.)|NCI|N|
C4525026|Appendiceal carcinoma with tumor invading through the visceral peritoneum, including the acellular mucin or mucinous epithelium involving the serosa of the appendix or serosa of the mesoappendix. (from AJCC 8th Ed.)|NCI|N|
C4525027|Appendiceal carcinoma with tumor directly invading or adhering to adjacent organs or structures. (from AJCC 8th Ed.)|NCI|N|
C4525028|A pathologic finding about one or more characteristics of appendiceal carcinoma, following the rules of the TNM AJCC v8 classification system as they pertain to staging of regional lymph nodes.|NCI|N|
C4525029|Appendiceal carcinoma in which the regional lymph node(s) cannot be assessed. (from AJCC 8th Ed.)|NCI|N|
C4525030|Appendiceal carcinoma with no metastasis to regional lymph nodes. (from AJCC 8th Ed.)|NCI|N|
C4525031|Appendiceal carcinoma in which one to three regional lymph nodes are positive (tumor in lymph node measuring 0.2 mm or more) or any number of tumor deposits is present, and all identifiable lymph nodes are negative. (from AJCC 8th Ed.)|NCI|N|
C4525032|Appendiceal carcinoma in which one regional lymph node is positive. (from AJCC 8th Ed.)|NCI|N|
C4525033|Appendiceal carcinoma in which two to three regional lymph nodes are positive. (from AJCC 8th Ed.)|NCI|N|
C4525034|Appendiceal carcinoma in which no regional lymph nodes are positive, but there are tumor deposits in the subserosa or mesentery. (from AJCC 8th Ed.)|NCI|N|
C4525035|Appendiceal carcinoma in which four or more regional lymph nodes are positive. (from AJCC 8th Ed.)|NCI|N|
C4525040|A term that refers to the staging of appendiceal carcinoma according to the American Joint Committee on Cancer, 8th edition. This staging system applies to carcinomas of the appendix, including high-grade neuroendocrine carcinomas, mixed adenoneuroendocrine carcinomas, and goblet cell carcinoids. Well-differentiated neuroendocrine tumors (carcinoids) are staged according to the classification for neuroendocrine tumors of the appendix. (from AJCC 8th Ed.)|NCI|N|
C4525042|Stage III includes: IIIA: (T1, N1, M0); (T2, N1, M0); IIIB: (T3, N1, M0); (T4, N1, M0); IIIC: (Any T, N2, M0). T1: Tumor invades the submucosa (through the muscularis mucosa but not into the muscularis propria). T2: Tumor invades the muscularis propria. T3: Tumor invades through the muscularis propria into the subserosa or the mesoappendix. T4: Tumor invades the visceral peritoneum, including the acellular mucin or mucinous epithelium involving the serosa of the appendix or mesoappendix, and/or directly invades adjacent organs or structures. N1: One to three regional lymph nodes are positive (tumor in lymph node measuring 0.2 mm or more) or any number of tumor deposits is present, and all identifiable lymph nodes are negative. N2: Four or more regional lymph nodes are positive. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4525043|Stage IV includes: IVA: (Any T, N0, M1a); (Any T, Any N, M1b, G1); IVB: (Any T, Any N, M1b, G2, G3, or GX); IVC: (Any T, Any N, M1c, Any G). N0: No regional lymph node metastasis. M1a: Intraperitoneal acellular mucin, without identifiable tumor cells in the disseminated peritoneal mucinous deposits. M1b: Intraperitoneal metastasis only, including peritoneal mucinous deposits containing tumor cells. M1c: Metastasis to sites other than peritoneum. G1: Well differentiated. G2: Moderately differentiated. G3: Poorly differentiated. GX: Grade cannot be assessed. (AJCC 8th ed.)|NCI|N|
C4525044|A finding about one or more characteristics of colorectal cancer, following the rules of the TNM AJCC v8 classification system. Adenocarcinomas, high-grade neuroendocrine carcinomas, and squamous cell carcinomas of the colon and rectum are covered by this staging system. Appendiceal carcinomas, anal carcinomas, and well-differentiated neuroendocrine tumors (carcinoids) are not covered by this staging system. (from AJCC 8th Ed.)|NCI|N|
C4525045|A clinical finding about one or more characteristics of colorectal cancer, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4525046|A clinical finding about one or more characteristics of colorectal cancer, following the rules of the TNM AJCC v8 classification system as they pertain to distant metastases.|NCI|N|
C4525047|Colorectal cancer without evidence of distant metastasis by imaging, etc.; no evidence of tumor in distant sites or organs. This category is not assigned by pathologists. (from AJCC 8th Ed.)|NCI|N|
C4525048|Colorectal cancer with metastasis to one or more distant sites or organs or peritoneal metastasis is identified. (from AJCC 8th Ed.)|NCI|N|
C4525049|Colorectal cancer with metastasis to one site or organ without peritoneal metastasis. (from AJCC 8th Ed.)|NCI|N|
C4525050|Colorectal cancer with metastasis to two or more sites or organs without peritoneal metastasis. (from AJCC 8th Ed.)|NCI|N|
C4525051|Colorectal cancer with metastasis to the peritoneal surface alone or with other site or organ metastases. (from AJCC 8th Ed.)|NCI|N|
C4525052|A pathologic finding about one or more characteristics of colorectal cancer, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4525053|A pathologic finding about one or more characteristics of colorectal cancer, following the rules of the TNM AJCC v8 classification system as they pertain to distant metastases.|NCI|N|
C4525054|Colorectal cancer with metastasis to one or more distant sites or organs or peritoneal metastasis is identified. (from AJCC 8th Ed.)|NCI|N|
C4525055|Colorectal cancer with metastasis to one site or organ without peritoneal metastasis. (from AJCC 8th Ed.)|NCI|N|
C4525056|Colorectal cancer with metastasis to two or more sites or organs without peritoneal metastasis. (from AJCC 8th Ed.)|NCI|N|
C4525057|Colorectal cancer with metastasis to the peritoneal surface alone or with other site or organ metastases. (from AJCC 8th Ed.)|NCI|N|
C4525058|A pathologic finding about one or more characteristics of colorectal cancer, following the rules of the TNM AJCC v8 classification system as they pertain to staging of the primary tumor.|NCI|N|
C4525059|A neuroblastoma that does not respond to treatment.|NCI|N|
C4525060|A lymphoma that does not respond to treatment.|NCI|N|
C4525061|Colorectal cancer in which the primary tumor cannot be assessed. (from AJCC 8th Ed.)|NCI|N|
C4525062|The reemergence of a lymphoma after a period of remission.|NCI|N|
C4525063|Colorectal cancer with a finding of carcinoma in situ, intramucosal carcinoma (involvement of lamina propria with no extension through muscularis mucosae). (from AJCC 8th Ed.)|NCI|N|
C4525064|Colorectal cancer with tumor invading the submucosa (through the muscularis mucosa but not into the muscularis propria). (from AJCC 8th Ed.)|NCI|N|
C4525065|Colorectal cancer with tumor invading the muscularis propria. (from AJCC 8th Ed.)|NCI|N|
C4525066|Colorectal cancer with tumor invading through the muscularis propria into pericolorectal tissues. (from AJCC 8th Ed.)|NCI|N|
C4525067|Colorectal cancer with tumor invading the visceral peritoneum or invading or adhering to adjacent organ or structure. (from AJCC 8th Ed.)|NCI|N|
C4525068|Colorectal cancer with tumor invading through the visceral peritoneum (including gross perforation of the bowel through tumor and continuous invasion of tumor through areas of inflammation to the surface of the visceral peritoneum). (from AJCC 8th Ed.)|NCI|N|
C4525069|Colorectal cancer with tumor directly invading or adhering to adjacent organs or structures. (from AJCC 8th Ed.)|NCI|N|
C4525070|A pathologic finding about one or more characteristics of colorectal cancer, following the rules of the TNM AJCC v8 classification system as they pertain to staging of regional lymph nodes.|NCI|N|
C4525071|Colorectal cancer in which the regional lymph nodes cannot be assessed. (from AJCC 8th Ed.)|NCI|N|
C4525072|A histiocytic and dendritic cell neoplasm that does not respond to treatment.|NCI|N|
C4525073|Colorectal cancer with no metastasis to regional lymph nodes. (from AJCC 8th Ed.)|NCI|N|
C4525074|Colorectal cancer in which one to three regional lymph nodes are positive (tumor in lymph nodes measuring 0.2 mm or more), or any number of tumor deposits are present and all identifiable lymph nodes are negative. (from AJCC 8th Ed.)|NCI|N|
C4525075|Colorectal cancer in which one regional lymph node is positive. (from AJCC 8th Ed.)|NCI|N|
C4525076|The reemergence of a histiocytic and dendritic cell neoplasm after a period of remission.|NCI|N|
C4525077|Colorectal cancer in which two or three regional lymph nodes are positive. (from AJCC 8th Ed.)|NCI|N|
C4525078|Colorectal cancer in which no regional lymph nodes are positive, but there are tumor deposits in the subserosa, mesentery, or nonperitonealized pericolic, or perirectal/mesorectal tissues. (from AJCC 8th Ed.)|NCI|N|
C4525079|The reemergence of Langerhans cell histiocytosis after a period of remission.|NCI|N|
C4525080|Colorectal cancer in which four or more regional lymph nodes are positive. (from AJCC 8th Ed.)|NCI|N|
C4525081|Langerhans cell histiocytosis that does not respond to treatment.|NCI|N|
C4525082|Colorectal cancer in which four to six regional lymph nodes are positive. (from AJCC 8th Ed.)|NCI|N|
C4525083|Colorectal cancer in which seven or more regional lymph nodes are positive. (from AJCC 8th Ed.)|NCI|N|
C4525084|A term that refers to the staging of colorectal cancer according to the American Joint Committee on Cancer, 8th edition. This staging system applies to adenocarcinomas, high-grade neuroendocrine carcinomas, and squamous cell carcinomas of the colon and rectum. Appendiceal carcinomas, anal carcinomas, and well-differentiated neuroendocrine tumors (carcinoids) are not covered by this staging system. (from AJCC 8th Ed.)|NCI|N|
C4525085|Stage 0 includes: Tis, N0, M0. Tis: Carcinoma in situ, intramucosal carcinoma (involvement of lamina propria with no extension through muscularis mucosae). N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4525086|Stage I includes: (T1, N0, M0); (T2, N0, M0). T1: Tumor invades the submucosa (through the muscularis mucosa but not into the muscularis propria). T2: Tumor invades the muscularis propria. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4525087|Stage IIA includes: T3, N0, M0. T3: Tumor invades through the muscularis propria into pericolorectal tissues. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4525088|Stage IIB includes: T4a, N0, M0. T4a: Tumor invades through the visceral peritoneum (including gross perforation of the bowel through tumor and continuous invasion of tumor through areas of inflammation to the surface of the visceral peritoneum). N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4525089|Stage IIC includes: T4b, N0, M0. T4b: Tumor directly invades or adheres to adjacent organs or structures. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4525090|Stage III includes: IIIA: (T1-T2, N1/N1c, M0); (T1, N2a, M0); IIIB: (T3-T4a, N1/N1c, M0); (T2-T3, N2a, M0); (T1-T2, N2b, M0); IIIC: (T4a, N2a, M0); (T3-T4a, N2b, M0); (T4b, N1-N2, M0). T1: Tumor invades the submucosa (through the muscularis mucosa but not into the muscularis propria). T2: Tumor invades the muscularis propria. T3: Tumor invades through the muscularis propria into pericolorectal tissues. T4a: Tumor invades through the visceral peritoneum (including gross perforation of the bowel through tumor and continuous invasion of tumor through areas of inflammation to the surface of the visceral peritoneum). T4b: Tumor directly invades or adheres to adjacent organs or structures. N1: One to three regional lymph nodes are positive (tumor in lymph nodes measuring 0.2 mm or more), or any number of tumor deposits are present and all identifiable lymph nodes are negative. N1c: No regional lymph nodes are positive, but there are tumor deposits in the subserosa, mesentery, or nonperitonealized pericolic, or perirectal/mesorectal tissues. N2: Four or more regional lymph nodes are positive. N2a: Four to six regional lymph nodes are positive. N2b: Seven or more regional lymph nodes are positive. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4525091|Stage IIIA includes: (T1-T2, N1/N1c, M0); (T1, N2a, M0). T1: Tumor invades the submucosa (through the muscularis mucosa but not into the muscularis propria). T2: Tumor invades the muscularis propria. N1: One to three regional lymph nodes are positive (tumor in lymph nodes measuring 0.2 mm or more), or any number of tumor deposits are present and all identifiable lymph nodes are negative. N1c: No regional lymph nodes are positive, but there are tumor deposits in the subserosa, mesentery, or nonperitonealized pericolic, or perirectal/mesorectal tissues. N2a: Four to six regional lymph nodes are positive. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4525092|Stage IIIB includes: (T3-T4a, N1/N1c, M0); (T2-T3, N2a, M0); (T1-T2, N2b, M0). T1: Tumor invades the submucosa (through the muscularis mucosa but not into the muscularis propria). T2: Tumor invades the muscularis propria. T3: Tumor invades through the muscularis propria into pericolorectal tissues. T4a: Tumor invades through the visceral peritoneum (including gross perforation of the bowel through tumor and continuous invasion of tumor through areas of inflammation to the surface of the visceral peritoneum). N1: One to three regional lymph nodes are positive (tumor in lymph nodes measuring 0.2 mm or more), or any number of tumor deposits are present and all identifiable lymph nodes are negative. N1c: No regional lymph nodes are positive, but there are tumor deposits in the subserosa, mesentery, or nonperitonealized pericolic, or perirectal/mesorectal tissues. N2a: Four to six regional lymph nodes are positive. N2b: Seven or more regional lymph nodes are positive. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4525093|Stage IIIC includes: (T4a, N2a, M0); (T3-T4a, N2b, M0); (T4b, N1-N2, M0). T3: Tumor invades through the muscularis propria into pericolorectal tissues. T4a: Tumor invades through the visceral peritoneum (including gross perforation of the bowel through tumor and continuous invasion of tumor through areas of inflammation to the surface of the visceral peritoneum). T4b: Tumor directly invades or adheres to adjacent organs or structures. N1: One to three regional lymph nodes are positive (tumor in lymph nodes measuring 0.2 mm or more), or any number of tumor deposits are present and all identifiable lymph nodes are negative. N2: Four or more regional lymph nodes are positive. N2a: Four to six regional lymph nodes are positive. N2b: Seven or more regional lymph nodes are positive. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4525094|Stage IV includes: IVA: (Any T, Any N, M1a); IVB: (Any T, Any N, M1b); IVC: (Any T, Any N, M1c). M1a: Metastasis to one site or organ without peritoneal metastasis. M1b: Metastasis to two or more sites or organs without peritoneal metastasis. M1c: Metastasis to the peritoneal surface alone or with other site or organ metastases. (AJCC 8th ed.)|NCI|N|
C4525095|Stage IVA includes: Any T, Any N, M1a. M1a: Metastasis to one site or organ without peritoneal metastasis. (AJCC 8th ed.)|NCI|N|
C4525096|Stage IVB includes: Any T, Any N, M1b. M1b: Metastasis to two or more sites or organs without peritoneal metastasis. (AJCC 8th ed.)|NCI|N|
C4525097|Stage IVC includes: Any T, Any N, M1c. M1c: Metastasis to the peritoneal surface alone or with other site or organ metastases. (AJCC 8th ed.)|NCI|N|
C4525102|A term that refers to the staging of colon cancer according to the American Joint Committee on Cancer, 8th edition. This staging system applies to adenocarcinomas, high-grade neuroendocrine carcinomas, and squamous cell carcinomas of the colon. (from AJCC 8th Ed.)|NCI|N|
C4525106|A term that refers to the staging of rectal cancer according to the American Joint Committee on Cancer, 8th edition. This staging system applies to adenocarcinomas, high-grade neuroendocrine carcinomas, and squamous cell carcinomas of the rectum. (from AJCC 8th Ed.)|NCI|N|
C4525116|Stage 0 includes: Tis, N0, M0. Tis: Carcinoma in situ, intramucosal carcinoma (involvement of lamina propria with no extension through muscularis mucosae). N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4525118|Stage I includes: (T1, N0, M0); (T2, N0, M0). T1: Tumor invades the submucosa (through the muscularis mucosa but not into the muscularis propria). T2: Tumor invades the muscularis propria. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4525119|Stage II includes: IIA: T3, N0, M0; IIB: T4a, N0, M0; IIC: T4b, N0, M0. T3: Tumor invades through the muscularis propria into pericolorectal tissues. T4a: Tumor invades through the visceral peritoneum (including gross perforation of the bowel through tumor and continuous invasion of tumor through areas of inflammation to the surface of the visceral peritoneum). T4b: Tumor directly invades or adheres to adjacent organs or structures. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4525122|Stage IIA includes: T3, N0, M0. T3: Tumor invades through the muscularis propria into pericolorectal tissues. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4525123|Stage IIB includes: T4a, N0, M0. T4a: Tumor invades through the visceral peritoneum (including gross perforation of the bowel through tumor and continuous invasion of tumor through areas of inflammation to the surface of the visceral peritoneum). N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4525124|Stage III includes: IIIA: (T1-T2, N1/N1c, M0); (T1, N2a, M0); IIIB: (T3-T4a, N1/N1c, M0); (T2-T3, N2a, M0); (T1-T2, N2b, M0); IIIC: (T4a, N2a, M0); (T3-T4a, N2b, M0); (T4b, N1-N2, M0). T1: Tumor invades the submucosa (through the muscularis mucosa but not into the muscularis propria). T2: Tumor invades the muscularis propria. T3: Tumor invades through the muscularis propria into pericolorectal tissues. T4a: Tumor invades through the visceral peritoneum (including gross perforation of the bowel through tumor and continuous invasion of tumor through areas of inflammation to the surface of the visceral peritoneum). T4b: Tumor directly invades or adheres to adjacent organs or structures. N1: One to three regional lymph nodes are positive (tumor in lymph nodes measuring 0.2 mm or more), or any number of tumor deposits are present and all identifiable lymph nodes are negative. N1c: No regional lymph nodes are positive, but there are tumor deposits in the subserosa, mesentery, or nonperitonealized pericolic, or perirectal/mesorectal tissues. N2: Four or more regional lymph nodes are positive. N2a: Four to six regional lymph nodes are positive. N2b: Seven or more regional lymph nodes are positive. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4525125|Stage IIIA includes: (T1-T2, N1/N1c, M0); (T1, N2a, M0). T1: Tumor invades the submucosa (through the muscularis mucosa but not into the muscularis propria). T2: Tumor invades the muscularis propria. N1: One to three regional lymph nodes are positive (tumor in lymph nodes measuring 0.2 mm or more), or any number of tumor deposits are present and all identifiable lymph nodes are negative. N1c: No regional lymph nodes are positive, but there are tumor deposits in the subserosa, mesentery, or nonperitonealized pericolic, or perirectal/mesorectal tissues. N2a: Four to six regional lymph nodes are positive. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4525126|Stage IIIB includes: (T3-T4a, N1/N1c, M0); (T2-T3, N2a, M0); (T1-T2, N2b, M0). T1: Tumor invades the submucosa (through the muscularis mucosa but not into the muscularis propria). T2: Tumor invades the muscularis propria. T3: Tumor invades through the muscularis propria into pericolorectal tissues. T4a: Tumor invades through the visceral peritoneum (including gross perforation of the bowel through tumor and continuous invasion of tumor through areas of inflammation to the surface of the visceral peritoneum). N1: One to three regional lymph nodes are positive (tumor in lymph nodes measuring 0.2 mm or more), or any number of tumor deposits are present and all identifiable lymph nodes are negative. N1c: No regional lymph nodes are positive, but there are tumor deposits in the subserosa, mesentery, or nonperitonealized pericolic, or perirectal/mesorectal tissues. N2a: Four to six regional lymph nodes are positive. N2b: Seven or more regional lymph nodes are positive. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4525127|Stage IIIC includes: (T4a, N2a, M0); (T3-T4a, N2b, M0); (T4b, N1-N2, M0). T3: Tumor invades through the muscularis propria into pericolorectal tissues. T4a: Tumor invades through the visceral peritoneum (including gross perforation of the bowel through tumor and continuous invasion of tumor through areas of inflammation to the surface of the visceral peritoneum). T4b: Tumor directly invades or adheres to adjacent organs or structures. N1: One to three regional lymph nodes are positive (tumor in lymph nodes measuring 0.2 mm or more), or any number of tumor deposits are present and all identifiable lymph nodes are negative. N2: Four or more regional lymph nodes are positive. N2a: Four to six regional lymph nodes are positive. N2b: Seven or more regional lymph nodes are positive. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4525128|Stage IV includes: IVA: (Any T, Any N, M1a); IVB: (Any T, Any N, M1b); IVC: (Any T, Any N, M1c). M1a: Metastasis to one site or organ without peritoneal metastasis. M1b: Metastasis to two or more sites or organs without peritoneal metastasis. M1c: Metastasis to the peritoneal surface alone or with other site or organ metastases. (AJCC 8th ed.)|NCI|N|
C4525129|Stage IVA includes: Any T, Any N, M1a. M1a: Metastasis to one site or organ without peritoneal metastasis. (AJCC 8th ed.)|NCI|N|
C4525130|Stage IVB includes: Any T, Any N, M1b. M1b: Metastasis to two or more sites or organs without peritoneal metastasis. (AJCC 8th ed.)|NCI|N|
C4525131|Stage IVC includes: Any T, Any N, M1c. M1c: Metastasis to the peritoneal surface alone or with other site or organ metastases. (AJCC 8th ed.)|NCI|N|
C4525132|Stage 0 includes: Tis, N0, M0. Tis: Carcinoma in situ, intramucosal carcinoma (involvement of lamina propria with no extension through muscularis mucosae). N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4525133|Stage I includes: (T1, N0, M0); (T2, N0, M0). T1: Tumor invades the submucosa (through the muscularis mucosa but not into the muscularis propria). T2: Tumor invades the muscularis propria. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4525134|Stage II includes: IIA: T3, N0, M0; IIB: T4a, N0, M0; IIC: T4b, N0, M0. T3: Tumor invades through the muscularis propria into pericolorectal tissues. T4a: Tumor invades through the visceral peritoneum (including gross perforation of the bowel through tumor and continuous invasion of tumor through areas of inflammation to the surface of the visceral peritoneum). T4b: Tumor directly invades or adheres to adjacent organs or structures. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4525135|Stage IIA includes: T3, N0, M0. T3: Tumor invades through the muscularis propria into pericolorectal tissues. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4525136|Stage IIB includes: T4a, N0, M0. T4a: Tumor invades through the visceral peritoneum (including gross perforation of the bowel through tumor and continuous invasion of tumor through areas of inflammation to the surface of the visceral peritoneum). N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4525137|Stage IIC includes: T4b, N0, M0. T4b: Tumor directly invades or adheres to adjacent organs or structures. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4525138|Stage III includes: IIIA: (T1-T2, N1/N1c, M0); (T1, N2a, M0); IIIB: (T3-T4a, N1/N1c, M0); (T2-T3, N2a, M0); (T1-T2, N2b, M0); IIIC: (T4a, N2a, M0); (T3-T4a, N2b, M0); (T4b, N1-N2, M0). T1: Tumor invades the submucosa (through the muscularis mucosa but not into the muscularis propria). T2: Tumor invades the muscularis propria. T3: Tumor invades through the muscularis propria into pericolorectal tissues. T4a: Tumor invades through the visceral peritoneum (including gross perforation of the bowel through tumor and continuous invasion of tumor through areas of inflammation to the surface of the visceral peritoneum). T4b: Tumor directly invades or adheres to adjacent organs or structures. N1: One to three regional lymph nodes are positive (tumor in lymph nodes measuring 0.2 mm or more), or any number of tumor deposits are present and all identifiable lymph nodes are negative. N1c: No regional lymph nodes are positive, but there are tumor deposits in the subserosa, mesentery, or nonperitonealized pericolic, or perirectal/mesorectal tissues. N2: Four or more regional lymph nodes are positive. N2a: Four to six regional lymph nodes are positive. N2b: Seven or more regional lymph nodes are positive. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4525139|Stage IIIB includes: (T3-T4a, N1/N1c, M0); (T2-T3, N2a, M0); (T1-T2, N2b, M0). T1: Tumor invades the submucosa (through the muscularis mucosa but not into the muscularis propria). T2: Tumor invades the muscularis propria. T3: Tumor invades through the muscularis propria into pericolorectal tissues. T4a: Tumor invades through the visceral peritoneum (including gross perforation of the bowel through tumor and continuous invasion of tumor through areas of inflammation to the surface of the visceral peritoneum). N1: One to three regional lymph nodes are positive (tumor in lymph nodes measuring 0.2 mm or more), or any number of tumor deposits are present and all identifiable lymph nodes are negative. N1c: No regional lymph nodes are positive, but there are tumor deposits in the subserosa, mesentery, or nonperitonealized pericolic, or perirectal/mesorectal tissues. N2a: Four to six regional lymph nodes are positive. N2b: Seven or more regional lymph nodes are positive. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4525140|Stage IIIC includes: (T4a, N2a, M0); (T3-T4a, N2b, M0); (T4b, N1-N2, M0). T3: Tumor invades through the muscularis propria into pericolorectal tissues. T4a: Tumor invades through the visceral peritoneum (including gross perforation of the bowel through tumor and continuous invasion of tumor through areas of inflammation to the surface of the visceral peritoneum). T4b: Tumor directly invades or adheres to adjacent organs or structures. N1: One to three regional lymph nodes are positive (tumor in lymph nodes measuring 0.2 mm or more), or any number of tumor deposits are present and all identifiable lymph nodes are negative. N2: Four or more regional lymph nodes are positive. N2a: Four to six regional lymph nodes are positive. N2b: Seven or more regional lymph nodes are positive. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4525141|Stage IV includes: IVA: (Any T, Any N, M1a); IVB: (Any T, Any N, M1b); IVC: (Any T, Any N, M1c). M1a: Metastasis to one site or organ without peritoneal metastasis. M1b: Metastasis to two or more sites or organs without peritoneal metastasis. M1c: Metastasis to the peritoneal surface alone or with other site or organ metastases. (AJCC 8th ed.)|NCI|N|
C4525142|Stage IVA includes: Any T, Any N, M1a. M1a: Metastasis to one site or organ without peritoneal metastasis. (AJCC 8th ed.)|NCI|N|
C4525143|Stage IVB includes: Any T, Any N, M1b. M1b: Metastasis to two or more sites or organs without peritoneal metastasis. (AJCC 8th ed.)|NCI|N|
C4525144|Stage IVC includes: Any T, Any N, M1c. M1c: Metastasis to the peritoneal surface alone or with other site or organ metastases. (AJCC 8th ed.)|NCI|N|
C4525146|A change in the amino acid residue at position 679 in the fibroblast growth factor receptor 2 protein where valine has been replaced by phenylalanine.|NCI|N|
C4525151|A finding about one or more characteristics of hepatobiliary system cancer, following the rules of the TNM AJCC v8 classification system. (from AJCC 8th Ed.)|NCI|N|
C4525153|A finding about one or more characteristics of hepatocellular carcinoma, following the rules of the TNM AJCC v8 classification system. This staging system applies to hepatocellular carcinomas and fibrolamellar carcinomas (fibrolamellar variant of hepatocellular carcinoma). Intrahepatic cholangiocarcinomas, combined hepatocellular-cholangiocarcinomas, and sarcomas of the liver are not staged using this staging system. (from AJCC 8th Ed.)|NCI|N|
C4525155|A clinical finding about one or more characteristics of hepatocellular carcinoma, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4525156|A clinical finding about one or more characteristics of hepatocellular carcinoma, following the rules of the TNM AJCC v8 classification system as they pertain to distant metastases.|NCI|N|
C4525157|Hepatocellular carcinoma without evidence of distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4525158|Hepatocellular carcinoma with distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4525160|A pathologic finding about one or more characteristics of hepatocellular carcinoma, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4525161|A molecular genetic abnormality indicating the presence of an in-frame insertion mutation occurring within exon 19 of the EGFR gene.|NCI|N|
C4525162|A pathologic finding about one or more characteristics of hepatocellular carcinoma, following the rules of the TNM AJCC v8 classification system as they pertain to distant metastases.|NCI|N|
C4525163|Hepatocellular carcinoma with distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4525164|A genetic finding indicating that codon 600 of the BRAF gene encodes the wild type amino acid, valine.|NCI|N|
C4525165|A pathologic finding about one or more characteristics of hepatocellular carcinoma, following the rules of the TNM AJCC v8 classification system as they pertain to staging of the primary tumor.|NCI|N|
C4525166|Hepatocellular carcinoma in which the primary tumor cannot be assessed. (from AJCC 8th Ed.)|NCI|N|
C4525167|Hepatocellular carcinoma with no evidence of primary tumor. (from AJCC 8th Ed.)|NCI|N|
C4525168|Hepatocellular carcinoma with solitary tumor equal to or less than 2 cm, or larger than 2 cm without vascular invasion. (from AJCC 8th Ed.)|NCI|N|
C4525169|Hepatocellular carcinoma with solitary tumor larger than 2 cm without vascular invasion. (from AJCC 8th Ed.)|NCI|N|
C4525170|Hepatocellular carcinoma with solitary tumor larger than 2 cm with vascular invasion, or multiple tumors, none larger than 5 cm. (from AJCC 8th Ed.)|NCI|N|
C4525171|Hepatocellular carcinoma with multiple tumors, at least one of which is larger than 5 cm. (from AJCC 8th Ed.)|NCI|N|
C4525172|Hepatocellular carcinoma with single tumor or multiple tumors of any size involving a major branch of the portal vein or hepatic vein, or tumor(s) with direct invasion of adjacent organs other than the gallbladder or with perforation of visceral peritoneum. (from AJCC 8th Ed.)|NCI|N|
C4525173|A pathologic finding about one or more characteristics of hepatocellular carcinoma, following the rules of the TNM AJCC v8 classification system as they pertain to staging of regional lymph nodes.|NCI|N|
C4525174|Hepatocellular carcinoma in which the regional lymph node(s) cannot be assessed. (from AJCC 8th Ed.)|NCI|N|
C4525175|Hepatocellular carcinoma with no metastasis to regional lymph nodes. (from AJCC 8th Ed.)|NCI|N|
C4525176|Hepatocellular carcinoma with regional lymph node metastasis. (from AJCC 8th Ed.)|NCI|N|
C4525180|A variation in the amino acid sequence of the tyrosine-protein kinase BTK protein.|NCI|N|
C4525181|A change in the cysteine at position 481 of the tyrosine-protein kinase BTK protein to another amino acid.|NCI|N|
C4525187|A mutation in a RAF family gene that encodes a constitutively active serine/threonine-protein kinase and results in aberrant activation of its downstream pathways.|NCI|N|
C4525191|A change in the nucleotide sequence of the RAD51B gene that is associated with increased risk of disease.|NCI|N|
C4525192|A change in the nucleotide sequence of the CDK12 gene that is associated with increased risk of disease.|NCI|N|
C4525193|A change in the nucleotide sequence of the PPP2R2A gene that is associated with increased risk of disease.|NCI|N|
C4525194|A change in the nucleotide sequence of the FANCL gene that is associated with increased risk of disease.|NCI|N|
C4525195|A change in the nucleotide sequence of the CHEK2 gene that is associated with increased risk of disease.|NCI|N|
C4525196|A change in the nucleotide sequence of the CHEK1 gene that is associated with increased risk of disease.|NCI|N|
C4525197|A change in the nucleotide sequence of the ATM gene that is associated with increased risk of disease.|NCI|N|
C4525198|A term that refers to the staging of intrahepatic cholangiocarcinoma according to the American Joint Committee on Cancer, 7th edition.|NCI|N|
C4525199|A term that refers to the staging of hepatocellular carcinoma according to the American Joint Committee on Cancer, 8th edition. This staging system applies to hepatocellular carcinomas and fibrolamellar carcinomas (fibrolamellar variant of hepatocellular carcinoma). Intrahepatic cholangiocarcinomas, combined hepatocellular-cholangiocarcinomas, and sarcomas of the liver are not staged using this staging system. (from AJCC 8th Ed.)|NCI|N|
C4525200|Stage I includes: IA (T1a, N0, M0); IB (T1b, N0, M0). T1a: Solitary tumor equal to or less than 2 cm. T1b: Solitary tumor larger than 2 cm without vascular invasion. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4525201|Stage IA includes: T1a, N0, M0. T1a: Solitary tumor equal to or less than 2 cm. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4525202|Stage IB includes: T1b, N0, M0. T1b: Solitary tumor larger than 2 cm without vascular invasion. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4525203|Stage III includes: IIIA: (T3, N0, M0); IIIB: (T4, N0, M0). T3: Multiple tumors, at least one of which is larger than 5 cm. T4: Single tumor or multiple tumors of any size involving a major branch of the portal vein or hepatic vein, or tumor(s) with direct invasion of adjacent organs other than the gallbladder or with perforation of visceral peritoneum. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4525204|Stage IIIA includes: T3, N0, M0. T3: Multiple tumors, at least one of which is larger than 5 cm. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4525205|Stage IIIB includes: T4, N0, M0. T4: Single tumor or multiple tumors of any size involving a major branch of the portal vein or hepatic vein, or tumor(s) with direct invasion of adjacent organs other than the gallbladder or with perforation of visceral peritoneum. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4525206|Stage IV includes: IVA: (Any T, N1, M0); IVB: (Any T, Any N, M1). N1: Regional lymph node metastasis. M0: No distant metastasis. M1: Distant metastasis. (AJCC 8th ed.)|NCI|N|
C4525207|Stage IVA includes: Any T, N1, M0. N1: Regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4525208|Stage IVB includes: Any T, Any N, M1. M1: Distant metastasis. (AJCC 8th ed.)|NCI|N|
C4525209|A neoplasm that occurs in dogs.|NCI|N|
C4525210|A neoplasm that occurs in cattle.|NCI|N|
C4525211|A condition that is relevant to either disease states or models of disease in cats.|NCI|N|
C4525212|A condition that is relevant to either disease states or models of disease in rabbits.|NCI|N|
C4525213|A neoplasm grouping that is based on the classification of the affected non-human organism; this includes neoplasms occurring in organisms used in research settings.|NCI|N|
C4525214|A condition that is relevant to either disease states or models of disease in chickens.|NCI|N|
C4525215|A condition that is relevant to either disease states or models of disease in horses.|NCI|N|
C4525216|A malignant lymphoma that arises in the bursa of Fabricius in a chicken.|NCI|N|
C4525217|Fibrosarcoma that occurs in a chicken.|NCI|N|
C4525218|Hepatoma that occurs in a chicken.|NCI|N|
C4525219|Bronchioloalveolar lung carcinoma that occurs in a cat.|NCI|N|
C4525220|Fibrosarcoma that occurs in a cat.|NCI|N|
C4525221|Fibroma that occurs in a gerbil.|NCI|N|
C4525222|Adenocarcinoma that occurs in a guinea pig.|NCI|N|
C4525223|Leukemia that occurs in a guinea pig.|NCI|N|
C4525224|Buccal pouch carcinoma that occurs in a hamster.|NCI|N|
C4525225|Cholangiocarcinoma that occurs in a hamster.|NCI|N|
C4525226|Ductus deferens leiomyosarcoma that occurs in a hamster.|NCI|N|
C4525227|Uterine leiomyosarcoma that occurs in a hamster.|NCI|N|
C4525228|Melanoma that occurs in a horse.|NCI|N|
C4525229|Basal Cell carcinoma that occurs in a mouse.|NCI|N|
C4525230|Hepatoma that occurs in Oryzias latipes.|NCI|N|
C4525231|Melanoma that occurs in Oryzias latipes.|NCI|N|
C4525232|Hepatoma that occurs in Oncorhynchus mykiss.|NCI|N|
C4525233|A neoplasm that occurs in Xenopus.|NCI|N|
C4525234|Melanoma that occurs in Xiphophorus.|NCI|N|
C4525235|A neoplastic condition occurring in a non-human organism; this includes neoplasms occurring in organisms used in research settings.|NCI|N|
C4525236|A finding about one or more characteristics of intrahepatic bile duct cancer, following the rules of the TNM AJCC v8 classification system. This staging system applies to intrahepatic cholangiocarcinomas, combined hepatocellular-cholangiocarcinomas (mixed hepatocholangiocarcinomas), and primary neuroendocrine tumors of the liver. Primary sarcomas of the liver, pure hepatocellular carcinomas, hilar cholangiocarcinomas, and gallbladder carcinomas are not staged using this staging system. (from AJCC 8th Ed.)|NCI|N|
C4525237|A clinical finding about one or more characteristics of intrahepatic bile duct cancer, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4525238|A clinical finding about one or more characteristics of intrahepatic bile duct cancer, following the rules of the TNM AJCC v8 classification system as they pertain to distant metastases.|NCI|N|
C4525239|Intrahepatic bile duct cancer without evidence of distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4525240|Intrahepatic bile duct cancer with distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4525241|A pathologic finding about one or more characteristics of intrahepatic bile duct cancer, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4525242|A pathologic finding about one or more characteristics of intrahepatic bile duct cancer, following the rules of the TNM AJCC v8 classification system as they pertain to distant metastases.|NCI|N|
C4525243|Intrahepatic bile duct cancer with distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4525244|A pathologic finding about one or more characteristics of intrahepatic bile duct cancer, following the rules of the TNM AJCC v8 classification system as they pertain to staging of the primary tumor.|NCI|N|
C4525245|Intrahepatic bile duct cancer in which the primary tumor cannot be assessed. (from AJCC 8th Ed.)|NCI|N|
C4525246|Intrahepatic bile duct cancer with a finding of carcinoma in situ (intraductal tumor). (from AJCC 8th Ed.)|NCI|N|
C4525247|Intrahepatic bile duct cancer with solitary tumor equal to or less than 5 cm, or larger than 5 cm without vascular invasion. (from AJCC 8th Ed.)|NCI|N|
C4525248|Intrahepatic bile duct cancer with solitary tumor equal to or less than 5 cm without vascular invasion. (from AJCC 8th Ed.)|NCI|N|
C4525249|Intrahepatic bile duct cancer with solitary tumor larger than 5 cm without vascular invasion. (from AJCC 8th Ed.)|NCI|N|
C4525250|Intrahepatic bile duct cancer with solitary tumor with intrahepatic vascular invasion, or multiple tumors, with or without vascular invasion. (from AJCC 8th Ed.)|NCI|N|
C4525251|Intrahepatic bile duct cancer with tumor perforating the visceral peritoneum. (from AJCC 8th Ed.)|NCI|N|
C4525252|Intrahepatic bile duct cancer with tumor involving local extrahepatic structures by direct invasion. (from AJCC 8th Ed.)|NCI|N|
C4525253|A pathologic finding about one or more characteristics of intrahepatic bile duct cancer, following the rules of the TNM AJCC v8 classification system as they pertain to staging of regional lymph nodes.|NCI|N|
C4525254|Intrahepatic bile duct cancer in which the regional lymph node(s) cannot be assessed. (from AJCC 8th Ed.)|NCI|N|
C4525255|Intrahepatic bile duct cancer with no metastasis to regional lymph nodes. (from AJCC 8th Ed.)|NCI|N|
C4525256|Intrahepatic bile duct cancer with regional lymph node metastasis. (from AJCC 8th Ed.)|NCI|N|
C4525257|A term that refers to the staging of intrahepatic bile duct cancer according to the American Joint Committee on Cancer, 8th edition. This staging system applies to intrahepatic cholangiocarcinomas, combined hepatocellular-cholangiocarcinomas (mixed hepatocholangiocarcinomas), and primary neuroendocrine tumors of the liver. Primary sarcomas of the liver, pure hepatocellular carcinomas, hilar cholangiocarcinomas, and gallbladder carcinomas are not staged using this staging system. (from AJCC 8th Ed.)|NCI|N|
C4525258|Stage 0 includes: Tis, N0, M0. Tis: Carcinoma in situ (intraductal tumor). N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4525259|Stage I includes: IA (T1a, N0, M0); IB (T1b, N0, M0). T1a: Solitary tumor equal to or less than 5 cm without vascular invasion. T1b: Solitary tumor larger than 5 cm without vascular invasion. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4525260|Stage IA includes: T1a, N0, M0. T1a: Solitary tumor equal to or less than 5 cm without vascular invasion. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4525261|Stage IB includes: T1b, N0, M0. T1b: Solitary tumor larger than 5 cm without vascular invasion. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4525262|Stage II includes: T2, N0, M0. T2: Solitary tumor with intrahepatic vascular invasion, or multiple tumors, with or without vascular invasion. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4525263|Stage III includes: IIIA: (T3, N0, M0); IIIB: (T4, N0, M0); (Any T, N1, M0). T3: Tumor perforating the visceral peritoneum. T4: Tumor involving local extrahepatic structures by direct invasion. N0: No regional lymph node metastasis. N1: Regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4525264|Stage IIIA includes: T3, N0, M0. T3: Tumor perforating the visceral peritoneum. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4525265|Stage IIIB includes: (T4, N0, M0); (Any T, N1, M0). T4: Tumor involving local extrahepatic structures by direct invasion. N0: No regional lymph node metastasis. N1: Regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4525266|Stage IV includes: Any T, Any N, M1. M1: Distant metastasis. (AJCC 8th ed.)|NCI|N|
C4525271|A finding about one or more characteristics of gallbladder cancer, following the rules of the TNM AJCC v8 classification system. This staging system applies to gallbladder carcinomas. Well-differentiated neuroendocrine tumors and sarcomas are not staged using this staging system. (from AJCC 8th Ed.)|NCI|N|
C4525272|A clinical finding about one or more characteristics of gallbladder cancer, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4525273|A clinical finding about one or more characteristics of gallbladder cancer, following the rules of the TNM AJCC v8 classification system as they pertain to distant metastases.|NCI|N|
C4525274|Gallbladder cancer without evidence of distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4525275|Gallbladder cancer with distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4525276|A pathologic finding about one or more characteristics of gallbladder cancer, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4525277|A pathologic finding about one or more characteristics of gallbladder cancer, following the rules of the TNM AJCC v8 classification system as they pertain to distant metastases.|NCI|N|
C4525278|Gallbladder cancer with distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4525279|A pathologic finding about one or more characteristics of gallbladder cancer, following the rules of the TNM AJCC v8 classification system as they pertain to staging of the primary tumor.|NCI|N|
C4525280|Gallbladder cancer in which the primary tumor cannot be assessed. (from AJCC 8th Ed.)|NCI|N|
C4525281|Gallbladder cancer with no evidence of primary tumor. (from AJCC 8th Ed.)|NCI|N|
C4525282|Gallbladder cancer with a finding of carcinoma in situ. (from AJCC 8th Ed.)|NCI|N|
C4525283|Gallbladder cancer with tumor invading the lamina propria or muscular layer. (from AJCC 8th Ed.)|NCI|N|
C4525284|Gallbladder cancer with tumor invading the lamina propria. (from AJCC 8th Ed.)|NCI|N|
C4525285|Gallbladder cancer with tumor invading the muscular layer. (from AJCC 8th Ed.)|NCI|N|
C4525286|Gallbladder cancer with tumor invading the perimuscular connective tissue on the peritoneal side, without involvement of the serosa (visceral peritoneum); or tumor invading the perimuscular connective tissue on the hepatic side, with no extension into the liver. (from AJCC 8th Ed.)|NCI|N|
C4525287|Gallbladder cancer with tumor invading the perimuscular connective tissue on the peritoneal side, without involvement of the serosa (visceral peritoneum). (from AJCC 8th Ed.)|NCI|N|
C4525288|Gallbladder cancer with tumor invading the perimuscular connective tissue on the hepatic side, with no extension into the liver. (from AJCC 8th Ed.)|NCI|N|
C4525289|Gallbladder cancer with tumor perforating the serosa (visceral peritoneum) and/or directly invading the liver and/or one other adjacent organ or structure, such as the stomach, duodenum, colon, pancreas, omentum, or extrahepatic bile ducts. (from AJCC 8th Ed.)|NCI|N|
C4525290|Gallbladder cancer with tumor invading the main portal vein or hepatic artery or invading two or more extrahepatic organs or structures. (from AJCC 8th Ed.)|NCI|N|
C4525291|A pathologic finding about one or more characteristics of gallbladder cancer, following the rules of the TNM AJCC v8 classification system as they pertain to staging of regional lymph nodes.|NCI|N|
C4525292|Gallbladder cancer in which the regional lymph nodes cannot be assessed. (from AJCC 8th Ed.)|NCI|N|
C4525293|Gallbladder cancer with no metastasis to regional lymph nodes. (from AJCC 8th Ed.)|NCI|N|
C4525294|Gallbladder cancer with metastases to one to three regional lymph nodes. (from AJCC 8th Ed.)|NCI|N|
C4525295|Gallbladder cancer with metastases to four or more regional lymph nodes. (from AJCC 8th Ed.)|NCI|N|
C4525296|A term that refers to the staging of gallbladder cancer according to the American Joint Committee on Cancer, 8th edition. This staging system applies to gallbladder carcinomas. Well-differentiated neuroendocrine tumors and sarcomas are not staged using this staging system. (from AJCC 8th Ed.)|NCI|N|
C4525297|Stage 0 includes: Tis, N0, M0. Tis: Carcinoma in situ. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4525298|Stage I includes: T1, N0, M0. T1: Tumor invading the lamina propria or muscular layer. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4525299|Stage II includes: IIA: T2a, N0, M0; IIB: T2b, N0, M0. T2a: Tumor invading the perimuscular connective tissue on the peritoneal side, without involvement of the serosa (visceral peritoneum). T2b: Tumor invading the perimuscular connective tissue on the hepatic side, with no extension into the liver. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4525300|Stage IIA includes: T2a, N0, M0. T2a: Tumor invading the perimuscular connective tissue on the peritoneal side, without involvement of the serosa (visceral peritoneum). N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4525301|Stage IIB includes: T2b, N0, M0. T2b: Tumor invading the perimuscular connective tissue on the hepatic side, with no extension into the liver. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4525302|Stage III includes: IIIA: (T3, N0, M0); IIIB: (T1-3, N1, M0). T1: Tumor invading the lamina propria or muscular layer. T2: Tumor invading the perimuscular connective tissue on the peritoneal side, without involvement of the serosa (visceral peritoneum); or tumor invading the perimuscular connective tissue on the hepatic side, with no extension into the liver. T3: Tumor perforating the serosa (visceral peritoneum) and/or directly invading the liver and/or one other adjacent organ or structure, such as the stomach, duodenum, colon, pancreas, omentum, or extrahepatic bile ducts. N0: No regional lymph node metastasis. N1: Metastases to one to three regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4525303|Stage IIIA includes: T3, N0, M0. T3: Tumor perforating the serosa (visceral peritoneum) and/or directly invading the liver and/or one other adjacent organ or structure, such as the stomach, duodenum, colon, pancreas, omentum, or extrahepatic bile ducts. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4525304|Stage IIIB includes: T1-3, N1, M0. T1: Tumor invading the lamina propria or muscular layer. T2: Tumor invading the perimuscular connective tissue on the peritoneal side, without involvement of the serosa (visceral peritoneum); or tumor invading the perimuscular connective tissue on the hepatic side, with no extension into the liver. T3: Tumor perforating the serosa (visceral peritoneum) and/or directly invading the liver and/or one other adjacent organ or structure, such as the stomach, duodenum, colon, pancreas, omentum, or extrahepatic bile ducts. N1: Metastases to one to three regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4525305|Stage IV includes: IVA: T4, N0-1, M0; IVB: (Any T, N2, M0); (Any T, Any N, M1). T4: Tumor invading the main portal vein or hepatic artery or invading two or more extrahepatic organs or structures. N0: No regional lymph node metastasis. N1: Metastases to one to three regional lymph nodes. N2: Metastases to four or more regional lymph nodes. M0: No distant metastasis. M1: Distant metastasis. (AJCC 8th ed.)|NCI|N|
C4525306|Stage IVA includes: T4, N0-1, M0. T4: Tumor invading the main portal vein or hepatic artery or invading two or more extrahepatic organs or structures. N0: No regional lymph node metastasis. N1: Metastases to one to three regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4525307|Stage IVB includes: (Any T, N2, M0); (Any T, Any N, M1). N2: Metastases to four or more regional lymph nodes. M0: No distant metastasis. M1: Distant metastasis. (AJCC 8th ed.)|NCI|N|
C4525314|A finding about one or more characteristics of perihilar bile duct cancer, following the rules of the TNM AJCC v8 classification system. This staging system applies to perihilar cholangiocarcinomas. Well-differentiated neuroendocrine tumors and sarcomas are not staged using this staging system. (from AJCC 8th Ed.)|NCI|N|
C4525315|A clinical finding about one or more characteristics of perihilar bile duct cancer, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4525316|A clinical finding about one or more characteristics of perihilar bile duct cancer, following the rules of the TNM AJCC v8 classification system as they pertain to distant metastases.|NCI|N|
C4525317|Perihilar bile duct cancer without evidence of distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4525318|Perihilar bile duct cancer with distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4525319|A pathologic finding about one or more characteristics of perihilar bile duct cancer, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4525320|Perihilar bile duct cancer with distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4525321|A pathologic finding about one or more characteristics of perihilar bile duct cancer, following the rules of the TNM AJCC v8 classification system as they pertain to staging of the primary tumor.|NCI|N|
C4525322|Perihilar bile duct cancer in which the primary tumor cannot be assessed. (from AJCC 8th Ed.)|NCI|N|
C4525323|Perihilar bile duct cancer with no evidence of primary tumor. (from AJCC 8th Ed.)|NCI|N|
C4525324|Perihilar bile duct cancer with a finding of carcinoma in situ/high grade dysplasia. (from AJCC 8th Ed.)|NCI|N|
C4525325|Perihilar bile duct cancer with tumor confined to the bile duct, with extension up to the muscle layer or fibrous tissue. (from AJCC 8th Ed.)|NCI|N|
C4525326|Perihilar bile duct cancer with tumor invading beyond the wall of the bile duct to surrounding adipose tissue, or tumor invading adjacent hepatic parenchyma. (from AJCC 8th Ed.)|NCI|N|
C4525327|Perihilar bile duct cancer with tumor invading beyond the wall of the bile duct to surrounding adipose tissue. (from AJCC 8th Ed.)|NCI|N|
C4525328|Perihilar bile duct cancer with tumor invading adjacent hepatic parenchyma. (from AJCC 8th Ed.)|NCI|N|
C4525329|Perihilar bile duct cancer with tumor invading unilateral branches of the portal vein or hepatic artery. (from AJCC 8th Ed.)|NCI|N|
C4525330|Perihilar bile duct cancer with tumor invading the main portal vein or its branches bilaterally, or the common hepatic artery; or unilateral second-order biliary radicals with contralateral portal vein or hepatic artery involvement. (from AJCC 8th Ed.)|NCI|N|
C4525331|A pathologic finding about one or more characteristics of perihilar bile duct cancer, following the rules of the TNM AJCC v8 classification system as they pertain to staging of regional lymph nodes.|NCI|N|
C4525332|Perihilar bile duct cancer in which the regional lymph nodes cannot be assessed. (from AJCC 8th Ed.)|NCI|N|
C4525333|Perihilar bile duct cancer with no metastasis to regional lymph nodes. (from AJCC 8th Ed.)|NCI|N|
C4525334|Perihilar bile duct cancer with one to three positive lymph nodes typically involving the hilar, cystic duct, common bile duct, hepatic artery, posterior pancreatoduodenal, and portal vein lymph nodes. (from AJCC 8th Ed.)|NCI|N|
C4525335|Perihilar bile duct cancer with four or more positive lymph nodes involving the hilar, cystic duct, common bile duct, hepatic artery, posterior pancreatoduodenal, and portal vein lymph nodes. (from AJCC 8th Ed.)|NCI|N|
C4525342|A term that refers to the staging of hilar cholangiocarcinoma according to the American Joint Committee on Cancer, 7th edition.|NCI|N|
C4525343|A term that refers to the staging of hilar cholangiocarcinoma according to the American Joint Committee on Cancer, 8th edition. Hilar well-differentiated neuroendocrine tumors and sarcomas are not staged using this staging system. (from AJCC 8th Ed.)|NCI|N|
C4525344|Stage III includes: IIIA: (T3, N0, M0); IIIB: (T4, N0, M0); IIIC: (Any T, N1, M0). T3: Tumor invading unilateral branches of the portal vein or hepatic artery. T4: Tumor invading the main portal vein or its branches bilaterally, or the common hepatic artery; or unilateral second-order biliary radicals with contralateral portal vein or hepatic artery involvement. N0: No regional lymph node metastasis. N1: One to three positive lymph nodes typically involving the hilar, cystic duct, common bile duct, hepatic artery, posterior pancreatoduodenal, and portal vein lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4525345|Stage IIIC includes: Any T, N1, M0. N1: One to three positive lymph nodes typically involving the hilar, cystic duct, common bile duct, hepatic artery, posterior pancreatoduodenal, and portal vein lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4525346|Stage IV includes: IVA: (Any T, N2, M0); IVB: (Any T, Any N, M1). N2: Four or more positive lymph nodes involving the hilar, cystic duct, common bile duct, hepatic artery, posterior pancreatoduodenal, and portal vein lymph nodes. M0: No distant metastasis. M1: Distant metastasis. (AJCC 8th ed.)|NCI|N|
C4525347|A term that refers to the staging of intrahepatic cholangiocarcinoma according to the American Joint Committee on Cancer, 8th edition.|NCI|N|
C4525348|Stage 0 includes: Tis, N0, M0. Tis: Carcinoma in situ (intraductal tumor). N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4525349|Stage I includes: IA (T1a, N0, M0); IB (T1b, N0, M0). T1a: Solitary tumor equal or less than 5 cm without vascular invasion. T1b: Solitary tumor larger than 5 cm without vascular invasion. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4525350|Stage IA includes: T1a, N0, M0. T1a: Solitary tumor equal or less than 5 cm without vascular invasion. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4525351|Stage IB includes: T1b, N0, M0. T1b: Solitary tumor larger than 5 cm without vascular invasion. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4525352|Stage II includes: T2, N0, M0. T2: Solitary tumor with intrahepatic vascular invasion, or multiple tumors, with or without vascular invasion. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4525353|Stage III includes: IIIA: (T3, N0, M0); IIIB: (T4, N0, M0); (Any T, N1, M0). T3: Tumor perforating the visceral peritoneum. T4: Tumor involving local extrahepatic structures by direct invasion. N0: No regional lymph node metastasis. N1: Regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4525354|Stage IIIB includes: (T4, N0, M0); (Any T, N1, M0). T4: Tumor involving local extrahepatic structures by direct invasion. N0: No regional lymph node metastasis. N1: Regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4525355|Stage IV includes: Any T, Any N, M1. M1: Distant metastasis. (AJCC 8th ed.)|NCI|N|
C4525356|Lymphoma that occurs in a baboon.|NCI|N|
C4525357|A myxoma that occurs in the rectum of a cow.|NCI|N|
C4525358|A neoplasm that occurs in a duck.|NCI|N|
C4525359|Erythroleukemia that occurs in a cat.|NCI|N|
C4525360|A kidney neoplasm of the pronephric cell type that occurs in a frog.|NCI|N|
C4525361|Fibrosarcoma that occurs in a gerbil.|NCI|N|
C4525362|Melanoma that occurs in a gerbil.|NCI|N|
C4525363|Lymphosarcoma that occurs in a gibbon.|NCI|N|
C4525364|A kidney neoplasm that occurs in a hamster.|NCI|N|
C4525365|Lymphoma that occurs in a hamster.|NCI|N|
C4525366|Lymphosarcoma that occurs in a hamster.|NCI|N|
C4525367|Lymphoma that occurs in a horse.|NCI|N|
C4525368|Carcinoma that occurs in the rectum of a mouse.|NCI|N|
C4525369|Reticulum cell sarcoma that occurs in a mouse.|NCI|N|
C4525370|A neoplasm that occurs in the sinus of a sheep.|NCI|N|
C4525371|Lymphoma that occurs in a rhesus monkey.|NCI|N|
C4525372|A mammary neoplasm that occurs in a rhesus monkey.|NCI|N|
C4525373|A neoplasm that occurs in a zebra finch.|NCI|N|
C4525374|Lymphoma that occurs in a pig.|NCI|N|
C4525376|A finding about one or more characteristics of distal bile duct cancer, following the rules of the TNM AJCC v8 classification system. This staging system applies to bile duct adenocarcinomas, biliary intraepithelial neoplasia, high-grade neuroendocrine carcinomas, and papillary carcinomas. Tumors arising in the ampulla of Vater, sarcomas, and well-differentiated neuroendocrine tumors (carcinoids) are not staged using this staging system. (from AJCC 8th Ed.)|NCI|N|
C4525377|A clinical finding about one or more characteristics of distal bile duct cancer, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4525378|A clinical finding about one or more characteristics of distal bile duct cancer, following the rules of the TNM AJCC v8 classification system as they pertain to distant metastases.|NCI|N|
C4525379|Distal bile duct cancer without evidence of distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4525380|Distal bile duct cancer with distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4525381|A pathologic finding about one or more characteristics of distal bile duct cancer, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4525382|A pathologic finding about one or more characteristics of distal bile duct cancer, following the rules of the TNM AJCC v8 classification system as they pertain to distant metastases.|NCI|N|
C4525383|Distal bile duct cancer with distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4525384|Distal bile duct cancer in which the primary tumor cannot be assessed. (from AJCC 8th Ed.)|NCI|N|
C4525385|Distal bile duct cancer with a finding of carcinoma in situ/high-grade dysplasia. (from AJCC 8th Ed.)|NCI|N|
C4525386|Distal bile duct cancer with tumor invading the bile duct wall with a depth less than 5 mm. (from AJCC 8th Ed.)|NCI|N|
C4525387|Distal bile duct cancer with tumor invading the bile duct wall with a depth of 5-12 mm. (from AJCC 8th Ed.)|NCI|N|
C4525388|Distal bile duct cancer with tumor invading the bile duct wall with a depth greater than 12 mm. (from AJCC 8th Ed.)|NCI|N|
C4525389|Distal bile duct cancer with tumor involving the celiac axis, superior mesenteric artery, and/or common hepatic artery. (from AJCC 8th Ed.)|NCI|N|
C4525390|A pathologic finding about one or more characteristics of distal bile duct cancer, following the rules of the TNM AJCC v8 classification system as they pertain to staging of regional lymph nodes.|NCI|N|
C4525391|Distal bile duct cancer in which the regional lymph nodes cannot be assessed. (from AJCC 8th Ed.)|NCI|N|
C4525392|Distal bile duct cancer with no metastasis to regional lymph nodes. (from AJCC 8th Ed.)|NCI|N|
C4525393|Distal bile duct cancer with metastasis in one to three regional lymph nodes. (from AJCC 8th Ed.)|NCI|N|
C4525394|Distal bile duct cancer with metastasis in four or more regional lymph nodes. (from AJCC 8th Ed.)|NCI|N|
C4525395|A term that refers to the staging of distal bile duct cancer according to the American Joint Committee on Cancer, 7th edition.|NCI|N|
C4525396|A term that refers to the staging of distal bile duct cancer according to the American Joint Committee on Cancer, 8th edition. This staging system applies to bile duct adenocarcinomas, biliary intraepithelial neoplasia, high-grade neuroendocrine carcinomas, and papillary carcinomas that arise from the distal bile duct. Tumors arising in the ampulla of Vater, sarcomas, and well-differentiated neuroendocrine tumors (carcinoids) are not staged using this staging system. (from AJCC 8th Ed.)|NCI|N|
C4525397|Stage I includes: T1, N0, M0. T1: Tumor invading the bile duct wall with a depth less than 5 mm. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4525398|Stage II includes: IIA: (T1, N1, M0); (T2, N0, M0); IIB: (T2, N1, M0); (T3, N0, M0); (T3, N1, M0). T1: Tumor invading the bile duct wall with a depth less than 5 mm. T2: Tumor invading the bile duct wall with a depth of 5-12 mm. T3: Tumor invading the bile duct wall with a depth greater than 12 mm. N0: No regional lymph node metastasis. N1: Metastasis in one to three regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4525399|Stage IIIA includes: (T1, N2, M0); (T2, N2, M0); (T3, N2, M0). T1: Tumor invading the bile duct wall with a depth less than 5 mm. T2: Tumor invading the bile duct wall with a depth of 5-12 mm. T3: Tumor invading the bile duct wall with a depth greater than 12 mm. N2: Metastasis in four or more regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4525400|Stage IIIB includes: (T4, N0, M0); (T4, N1, M0); (T4, N2, M0). T4: Tumor involving the celiac axis, superior mesenteric artery, and/or common hepatic artery. N0: No regional lymph node metastasis. N1: Metastasis in one to three regional lymph nodes. N2: Metastasis in four or more regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4525405|A sebaceous gland carcinoma affecting the eyelid. It arises from the meibomian glands, glands of Zeis, or glands associated with the caruncle. It usually affects elderly women and is characterized by high rate of local recurrence, regional, and distant metastases.|NCI|N|
C4525406|The reemergence of B acute lymphoblastic leukemia with BCR-ABL1-like features after a period of remission.|NCI|N|
C4525407|B acute lymphoblastic leukemia with BCR-ABL1-like features that does not respond to treatment.|NCI|N|
C4525408|A finding about one or more characteristics of ampulla of Vater cancer, following the rules of the TNM AJCC v8 classification system. This staging system and classification does not apply to well-differentiated neuroendocrine (carcinoid) tumors but does apply to high-grade neuroendocrine carcinomas, such as small cell carcinoma and large cell neuroendocrine carcinoma. (from AJCC 8th Ed.)|NCI|N|
C4525409|A clinical finding about one or more characteristics of ampulla of Vater cancer, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4525411|A clinical finding about one or more characteristics of ampulla of Vater cancer, following the rules of the TNM AJCC v8 classification system as they pertain to distant metastases.|NCI|N|
C4525412|Ampulla of Vater cancer without evidence of distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4525413|Ampulla of Vater cancer with distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4525414|A pathologic finding about one or more characteristics of ampulla of Vater cancer, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4525415|A pathologic finding about one or more characteristics of ampulla of Vater cancer, following the rules of the TNM AJCC v8 classification system as they pertain to distant metastases.|NCI|N|
C4525416|Ampulla of Vater cancer with distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4525417|A pathologic finding about one or more characteristics of ampulla of Vater cancer, following the rules of the TNM AJCC v8 classification system as they pertain to staging of the primary tumor.|NCI|N|
C4525418|Ampulla of Vater cancer with no evidence of primary tumor. (from AJCC 8th Ed.)|NCI|N|
C4525419|Ampulla of Vater cancer with a finding of carcinoma in situ. (from AJCC 8th Ed.)|NCI|N|
C4525420|Ampulla of Vater cancer with tumor limited to ampulla of Vater or sphincter of Oddi or tumor invading beyond the sphincter of Oddi (perisphincteric invasion) and/or into the duodenal submucosa. (from AJCC 8th Ed.)|NCI|N|
C4525421|Ampulla of Vater cancer with tumor limited to ampulla of Vater or sphincter of Oddi. (from AJCC 8th Ed.)|NCI|N|
C4525422|Ampulla of Vater cancer with tumor invading beyond the sphincter of Oddi (perisphincteric invasion) and/or into the duodenal submucosa. (from AJCC 8th Ed.)|NCI|N|
C4525423|Ampulla of Vater cancer with tumor invading into the muscularis propria of the duodenum. (from AJCC 8th Ed.)|NCI|N|
C4525424|Ampulla of Vater cancer with tumor directly invading the pancreas (up to 0.5 cm) or tumor extending more than 0.5 cm into the pancreas, or extending into peripancreatic or periduodenal tissue or duodenal serosa without involvement of the celiac axis or superior mesenteric artery. (from AJCC 8th Ed.)|NCI|N|
C4525425|Ampulla of Vater cancer with tumor directly invading the pancreas (up to 0.5 cm). (from AJCC 8th Ed.)|NCI|N|
C4525426|Ampulla of Vater cancer with tumor extending more than 0.5 cm into the pancreas, or extending into peripancreatic tissue or duodenal serosa without involvement of the celiac axis or superior mesenteric artery. (from AJCC 8th Ed.)|NCI|N|
C4525427|Ampulla of Vater cancer with tumor involving the celiac axis, superior mesenteric artery, and/or common hepatic artery, irrespective of size. (from AJCC 8th Ed.)|NCI|N|
C4525428|A pathologic finding about one or more characteristics of ampulla of Vater cancer, following the rules of the TNM AJCC v8 classification system as they pertain to staging of regional lymph nodes.|NCI|N|
C4525429|Ampulla of Vater cancer in which the regional lymph nodes cannot be assessed. (from AJCC 8th Ed.)|NCI|N|
C4525430|Ampulla of Vater cancer with no metastasis to regional lymph nodes. (from AJCC 8th Ed.)|NCI|N|
C4525431|Ampulla of Vater cancer with metastasis to one to three regional lymph nodes. (from AJCC 8th Ed.)|NCI|N|
C4525432|Ampulla of Vater cancer with metastasis to four or more regional lymph nodes. (from AJCC 8th Ed.)|NCI|N|
C4525434|A term that refers to the staging of ampulla of Vater cancer according to the American Joint Committee on Cancer, 7th edition.|NCI|N|
C4525435|A term that refers to the staging of ampulla of Vater cancer according to the American Joint Committee on Cancer, 8th edition. This staging system does not apply to well-differentiated neuroendocrine (carcinoid) tumors but does apply to high-grade neuroendocrine carcinomas, such as small cell carcinoma and large cell neuroendocrine carcinoma. (from AJCC 8th Ed.)|NCI|N|
C4525436|Stage IIIA includes: (T1a, N1, M0); (T1b, N1, M0); (T2, N1, M0); (T3a, N1, M0); (T3b, N1, M0). T1a: Tumor limited to ampulla of Vater or sphincter of Oddi. T1b: Tumor invading beyond the sphincter of Oddi (perisphincteric invasion) and/or into the duodenal submucosa. T2: Tumor invading into the muscularis propria of the duodenum. T3a: Tumor directly invading the pancreas (up to 0.5 cm). T3b: Tumor extending more than 0.5 cm into the pancreas, or extending into peripancreatic tissue or duodenal serosa without involvement of the celiac axis or superior mesenteric artery. N1: Metastasis to one to three regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4525437|Stage IIIB includes: (T4, Any N, M0); (Any T, N2, M0). T4: Tumor involving the celiac axis, superior mesenteric artery, and/or common hepatic artery, irrespective of size. N2: Metastasis to four or more regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4525439|A finding about one or more characteristics of exocrine pancreatic cancer, following the rules of the TNM AJCC v8 classification system. This classification applies to pancreatic ductal adenocarcinoma, acinar cell carcinoma, intraductal papillary mucinous neoplasm with associated invasive carcinoma, intraductal tubulopapillary neoplasm with associated invasive carcinoma, colloid carcinoma, mucinous cystic neoplasm with associated invasive carcinoma, solid pseudopapillary neoplasm, large cell neuroendocrine carcinoma, small cell neuroendocrine carcinoma, and pancreatoblastoma. Well-differentiated neuroendocrine tumors are not staged using this staging system. (from AJCC 8th Ed.)|NCI|N|
C4525440|A clinical finding about one or more characteristics of exocrine pancreatic cancer, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4525441|A clinical finding about one or more characteristics of exocrine pancreatic cancer, following the rules of the TNM AJCC v8 classification system as they pertain to distant metastases.|NCI|N|
C4525442|Exocrine pancreatic cancer without evidence of distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4525443|Exocrine pancreatic cancer with distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4525444|A pathologic finding about one or more characteristics of exocrine pancreatic cancer, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4525445|A pathologic finding about one or more characteristics of exocrine pancreatic cancer, following the rules of the TNM AJCC v8 classification system as they pertain to distant metastases.|NCI|N|
C4525446|Exocrine pancreatic cancer with distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4525447|A pathologic finding about one or more characteristics of exocrine pancreatic cancer, following the rules of the TNM AJCC v8 classification system as they pertain to staging of the primary tumor.|NCI|N|
C4525448|Exocrine pancreatic cancer with no evidence of primary tumor. (from AJCC 8th Ed.)|NCI|N|
C4525449|Exocrine pancreatic cancer with a finding of carcinoma in situ. This includes high-grade pancreatic intraepithelial neoplasia (PanIn-3), intraductal papillary mucinous neoplasm with high-grade dysplasia, intraductal tubulopapillary neoplasm with high-grade dysplasia, and mucinous cystic neoplasm with high-grade dysplasia. (from AJCC 8th Ed.)|NCI|N|
C4525450|Exocrine pancreatic cancer with tumor measuring 2 cm or less in greatest dimension. (from AJCC 8th Ed.)|NCI|N|
C4525451|Exocrine pancreatic cancer with tumor measuring 0.5 cm or less in greatest dimension. (from AJCC 8th Ed.)|NCI|N|
C4525452|Exocrine pancreatic cancer with tumor measuring more than 0.5 cm and less than 1 cm in greatest dimension. (from AJCC 8th Ed.)|NCI|N|
C4525453|Exocrine pancreatic cancer with tumor measuring 1-2 cm in greatest dimension. (from AJCC 8th Ed.)|NCI|N|
C4525454|Exocrine pancreatic cancer with tumor measuring more than 2 cm and 4 cm or less in greatest dimension. (from AJCC 8th Ed.)|NCI|N|
C4525455|Exocrine pancreatic cancer with tumor measuring more than 4 cm in greatest dimension. (from AJCC 8th Ed.)|NCI|N|
C4525456|Exocrine pancreatic cancer with tumor involving the celiac axis, superior mesenteric artery, and/or common hepatic artery, regardless of size. (from AJCC 8th Ed.)|NCI|N|
C4525457|A pathologic finding about one or more characteristics of exocrine pancreatic cancer, following the rules of the TNM AJCC v8 classification system as they pertain to staging of regional lymph nodes.|NCI|N|
C4525458|Exocrine pancreatic cancer in which the regional lymph nodes cannot be assessed. (from AJCC 8th Ed.)|NCI|N|
C4525459|Exocrine pancreatic cancer with no metastasis to regional lymph nodes. (from AJCC 8th Ed.)|NCI|N|
C4525460|Exocrine pancreatic cancer with metastasis in one to three regional lymph nodes. (from AJCC 8th Ed.)|NCI|N|
C4525461|Exocrine pancreatic cancer with metastasis in four or more regional lymph nodes. (from AJCC 8th Ed.)|NCI|N|
C4525462|A cytogenetic abnormality that refers to any translocation involving the BCL6 gene.|NCI|N|
C4525463|A term that refers to the staging of exocrine and endocrine pancreatic cancer including well-differentiated neuroendocrine tumors according to the American Joint Committee on Cancer, 6th and 7th editions.|NCI|N|
C4525470|A term that refers to the staging of exocrine pancreatic cancer according to the American Joint Committee on Cancer, 8th edition. This staging system applies to pancreatic ductal adenocarcinoma, acinar cell carcinoma, intraductal papillary mucinous neoplasm with associated invasive carcinoma, intraductal tubulopapillary neoplasm with associated invasive carcinoma, colloid carcinoma, mucinous cystic neoplasm with associated invasive carcinoma, solid pseudopapillary neoplasm, large cell neuroendocrine carcinoma, small cell neuroendocrine carcinoma, and pancreatoblastoma. Well-differentiated neuroendocrine tumors are not staged using this staging system. (from AJCC 8th Ed.)|NCI|N|
C4525492|A neoplasm arising in a rat.|NCI|N|
C4525493|Fibrosarcoma that occurs in a budgerigar.|NCI|N|
C4525494|Pancreatic carcinoma that occurs in a dog.|NCI|N|
C4525495|Monocytic leukemia that occurs in a chicken.|NCI|N|
C4525496|Insulinoma that occurs in a hamster.|NCI|N|
C4525497|A Leydig cell tumor that occurs in a mouse.|NCI|N|
C4525498|Sarcoma that occurs in a pike.|NCI|N|
C4525499|Fibrosarcoma that occurs in a quail.|NCI|N|
C4525500|A mammary tumor that occurs in Suncus murinus.|NCI|N|
C4525501|A skin tumor that occurs in a bat.|NCI|N|
C4525502|A tumor arising from odontogenic epithelium and occurs in a dog.|NCI|N|
C4525503|A chondrosarcoma that occurs in a hamster.|NCI|N|
C4525504|A neoplasm that arises from vascular endothelium and occurs in the thyroid gland of a mouse.|NCI|N|
C4525505|Lymphoma that occurs in a marmoset.|NCI|N|
C4525506|A pheochromocytoma that occurs in the adrenal gland of a mouse.|NCI|N|
C4525507|A tumor arising in the submandibular gland of a mouse.|NCI|N|
C4525508|Hepatocellular carcinoma that occurs in Poeciliopsis lucida.|NCI|N|
C4525509|A lymphoma that occurs in a seal.|NCI|N|
C4525514|A term that refers to the tumor status of AIDS-related Kaposi sarcoma according to the AIDS Clinical Trials Group system. (American Cancer Society)|NCI|N|
C4525515|AIDS-related Kaposi sarcoma is only in the skin and/or the lymph nodes, and/or there is only a small amount of disease on the palate. The Kaposi sarcoma lesions in the mouth are flat rather than raised. (American Cancer Society)|NCI|N|
C4525516|AIDS-related Kaposi sarcoma with widespread lesions.|NCI|N|
C4525517|AIDS-related Kaposi sarcoma with edema or ulceration due to the tumor.|NCI|N|
C4525518|AIDS-related Kaposi sarcoma with lesions that are nodular and/or lesions in roof of the mouth.|NCI|N|
C4525519|AIDS-related Kaposi sarcoma involving the esophagus, stomach, or intestines.|NCI|N|
C4525520|AIDS-related Kaposi sarcoma involving the lungs.|NCI|N|
C4525521|AIDS-related Kaposi sarcoma involving organs other than the lungs or gastrointestinal tract. It includes liver, bladder, reproductive tract, heart, and endocrine organs.|NCI|N|
C4525522|A term that refers to the immune system status of AIDS-related Kaposi sarcoma according to the AIDS Clinical Trials Group system. The immune status is assessed using the CD4 count test. (American Cancer Society)|NCI|N|
C4525523|AIDS-related Kaposi sarcoma in which the CD4 cell count is 150 or more cells per cubic mm.|NCI|N|
C4525524|AIDS-related Kaposi sarcoma in which the CD4 cell count is lower than 150 cells per cubic mm.|NCI|N|
C4525525|A term that refers to the systemic illness status of AIDS-related Kaposi sarcoma according to the AIDS Clinical Trials Group system. (American Cancer Society)|NCI|N|
C4525526|AIDS-related Kaposi sarcoma in which no systemic illness is present; there is no history of opportunistic infections or thrush and no B symptoms lasting more than 2 weeks. The Karnofsky performance status score is 70 or higher. (American Cancer Society)|NCI|N|
C4525527|AIDS-related Kaposi sarcoma in which systemic illness is present; one or more of the following is true: history of opportunistic infections or thrush; one or more B symptoms is present; Karnofsky performance status score is under 70; other HIV-related illness is present, such as neurological disease or lymphoma. (American Cancer Society)|NCI|N|
C4525528|The overall risk group for AIDS-related Kaposi sarcoma based on the tumor, immune system, and systemic illness status. Since highly active antiretroviral therapy became available to treat HIV, the immune system status has become less important and is often not counted in determining the risk group. (American Cancer Society)|NCI|N|
C4525529|The following combinations of tumor and systemic illness status define good risk AIDS-related Kaposi sarcoma: T0 S0, T1 S0, or T0 S1. T0: Localized tumor. T1: Widespread tumor. S0: No systemic illness is present. S1: Systemic illness is present. (American Cancer Society)|NCI|N|
C4525530|The following combination of tumor and systemic illness status define poor risk AIDS-related Kaposi sarcoma: T1 S1. T1: Widespread tumor. S1: Systemic illness is present. (American Cancer Society)|NCI|N|
C4525532|A neoplasm occurring in a hamster.|NCI|N|
C4525533|A neoplasm occurring in a rabbit.|NCI|N|
C4525534|Carcinoma arising from the adrenal gland and occurring in a hamster.|NCI|N|
C4525535|Carcinoma arising from the lung and occurring in a hamster.|NCI|N|
C4525536|Fibrosarcoma that occurs in a hamster.|NCI|N|
C4525537|Carcinoma arising in the pituitary gland and occurring in a hamster.|NCI|N|
C4525538|A neoplasm that occurs in the small intestine of a hamster.|NCI|N|
C4525539|A fibroblastic tumor that occurs in the skin of a horse.|NCI|N|
C4525540|A lymphoma that arises in the thymus of a mouse.|NCI|N|
C4525541|A fibroma that occurs in a rattlesnake.|NCI|N|
C4525542|Lymphosarcoma that occurs in a seal.|NCI|N|
C4525543|A neoplasm that occurs in a turtle.|NCI|N|
C4525544|Sarcoma arising from the connective tissue of the dermis and occurring in a walleye.|NCI|N|
C4525545|Carcinoma that arises in the testicle of a budgerigar.|NCI|N|
C4525546|Lymphoma that occurs in a chicken.|NCI|N|
C4525547|A neoplasm that occurs in a chicken.|NCI|N|
C4525548|Melanoma that occurs in a fish.|NCI|N|
C4525549|Reticulum cell sarcoma that occurs in a cat.|NCI|N|
C4525556|A change in the nucleotide sequence of the PHOX2B gene.|NCI|N|
C4525558|A finding about one or more characteristics of a digestive system neuroendocrine tumor, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4525559|A finding about one or more characteristics of a gastric neuroendocrine tumor, following the rules of the TNM AJCC v8 classification system. This classification system applies to gastric ""carcinoid"" tumors (NET G1 and G2, and rare well-differentiated G3). Gastric high-grade neuroendocrine carcinoma and gastric mixed adenoneuroendocrine carcinoma are not included in this classification system. (from AJCC 8th Ed.)|NCI|N|
C4525560|A clinical finding about one or more characteristics of a gastric neuroendocrine tumor, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4525561|A clinical finding about one or more characteristics of a gastric neuroendocrine tumor, following the rules of the TNM AJCC v8 classification system as they pertain to distant metastases.|NCI|N|
C4525562|Gastric neuroendocrine tumor without evidence of distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4525563|Gastric neuroendocrine tumor with distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4525564|Gastric neuroendocrine tumor with metastasis confined to liver. (from AJCC 8th Ed.)|NCI|N|
C4525565|Gastric neuroendocrine tumor with metastasis in at least one extrahepatic site (e.g., lung, ovary, nonregional lymph node, peritoneum, bone). (from AJCC 8th Ed.)|NCI|N|
C4525566|Gastric neuroendocrine tumor with both hepatic and extrahepatic metastases. (from AJCC 8th Ed.)|NCI|N|
C4525567|A pathologic finding about one or more characteristics of a gastric neuroendocrine tumor, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4525568|A pathologic finding about one or more characteristics of a gastric neuroendocrine tumor, following the rules of the TNM AJCC v8 classification system as they pertain to distant metastases.|NCI|N|
C4525569|Gastric neuroendocrine tumor with distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4525570|Gastric neuroendocrine tumor with metastasis confined to liver. (from AJCC 8th Ed.)|NCI|N|
C4525571|Gastric neuroendocrine tumor with metastasis in at least one extrahepatic site (e.g., lung, ovary, nonregional lymph node, peritoneum, bone). (from AJCC 8th Ed.)|NCI|N|
C4525572|Gastric neuroendocrine tumor with both hepatic and extrahepatic metastases. (from AJCC 8th Ed.)|NCI|N|
C4525573|A pathologic finding about one or more characteristics of a gastric neuroendocrine tumor, following the rules of the TNM AJCC v8 classification system as they pertain to staging of the primary tumor.|NCI|N|
C4525574|Gastric neuroendocrine tumor in which the primary tumor cannot be assessed. (from AJCC 8th Ed.)|NCI|N|
C4525575|Gastric neuroendocrine tumor with no evidence of primary tumor. (from AJCC 8th Ed.)|NCI|N|
C4525576|Gastric neuroendocrine tumor invading the lamina propria or submucosa and is less than or equal to 1 cm in size. (from AJCC 8th Ed.)|NCI|N|
C4525577|Gastric neuroendocrine tumor invading the muscularis propria or is greater than 1 cm in size. (from AJCC 8th Ed.)|NCI|N|
C4525578|Gastric neuroendocrine tumor invading through the muscularis propria into subserosal tissue without penetration of overlying serosa. (from AJCC 8th Ed.)|NCI|N|
C4525579|Gastric neuroendocrine tumor invading visceral peritoneum (serosa) or other organs or adjacent structures. (from AJCC 8th Ed.)|NCI|N|
C4525580|A pathologic finding about one or more characteristics of a gastric neuroendocrine tumor, following the rules of the TNM AJCC v8 classification system as they pertain to staging of regional lymph nodes.|NCI|N|
C4525581|Gastric neuroendocrine tumor in which the regional lymph nodes cannot be assessed. (from AJCC 8th Ed.)|NCI|N|
C4525582|Gastric neuroendocrine tumor with no metastasis to regional lymph nodes. (from AJCC 8th Ed.)|NCI|N|
C4525583|Gastric neuroendocrine tumor with regional lymph node metastasis. (from AJCC 8th Ed.)|NCI|N|
C4525584|A term that refers to the staging of a gastric neuroendocrine tumor according to the American Joint Committee on Cancer, 8th edition. This staging system applies to gastric ""carcinoid"" tumors (NET G1 and G2, and rare well-differentiated G3). Gastric high-grade neuroendocrine carcinoma and gastric mixed adenoneuroendocrine carcinoma are not included in this staging system. (from AJCC 8th Ed.)|NCI|N|
C4525585|Stage I includes: T1, N0, M0. T1: Tumor invading the lamina propria or submucosa and is less than or equal to 1 cm in size. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4525586|Stage II includes: (T2, N0, M0); (T3, N0, M0). T2: Tumor invading the muscularis propria or is greater than 1 cm in size. T3: Tumor invading through the muscularis propria into subserosal tissue without penetration of overlying serosa. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4525587|Stage III includes: (T1, N1, M0); (T2, N1, M0); (T3, N1, M0); (T4, N0, M0); (T4, N1, M0). T1: Tumor invading the lamina propria or submucosa and is less than or equal to 1 cm in size. T2: Tumor invading the muscularis propria or is greater than 1 cm in size. T3: Tumor invading through the muscularis propria into subserosal tissue without penetration of overlying serosa. T4: Tumor invading visceral peritoneum (serosa) or other organs or adjacent structures. N0: No regional lymph node metastasis. N1: Regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4525588|Stage IV includes: (T1, N0, N1, M1); (T2, N0, N1, M1); (T3, N0, N1, M1); (T4, N0, N1, M1). T1: Tumor invading the lamina propria or submucosa and is less than or equal to 1 cm in size. T2: Tumor invading the muscularis propria or is greater than 1 cm in size. T3: Tumor invading through the muscularis propria into subserosal tissue without penetration of overlying serosa. T4: Tumor invading visceral peritoneum (serosa) or other organs or adjacent structures. N0: No regional lymph node metastasis. N1: Regional lymph node metastasis. M1: Distant metastasis. (AJCC 8th ed.)|NCI|N|
C4525589|A finding about one or more characteristics of a duodenum and ampulla of Vater neuroendocrine tumor, following the rules of the TNM AJCC v8 classification system. This classification system applies to well-differentiated neuroendocrine tumors of the duodenum and ampulla of Vater. Carcinomas of the duodenum, including high-grade (grade 3), poorly differentiated neuroendocrine carcinomas and carcinomas of the ampulla of Vater, including high-grade (grade 3), poorly differentiated neuroendocrine carcinomas are not included in this classification system. (from AJCC 8th Ed.)|NCI|N|
C4525590|A clinical finding about one or more characteristics of a duodenum and ampulla of Vater neuroendocrine tumor, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4525591|A clinical finding about one or more characteristics of a duodenum and ampulla of Vater neuroendocrine tumor, following the rules of the TNM AJCC v8 classification system as they pertain to distant metastases.|NCI|N|
C4525592|Duodenum and ampulla of Vater neuroendocrine tumor without evidence of distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4525593|Duodenum and ampulla of Vater neuroendocrine tumor with distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4525594|Duodenum and ampulla of Vater neuroendocrine tumor with metastasis confined to liver. (from AJCC 8th Ed.)|NCI|N|
C4525595|Duodenum and ampulla of Vater neuroendocrine tumor with metastasis in at least one extrahepatic site (e.g., lung, ovary, nonregional lymph node, peritoneum, bone). (from AJCC 8th Ed.)|NCI|N|
C4525596|Duodenum and ampulla of Vater neuroendocrine tumor with both hepatic and extrahepatic metastases. (from AJCC 8th Ed.)|NCI|N|
C4525598|A pathologic finding about one or more characteristics of a duodenum and ampulla of Vater neuroendocrine tumor, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4525599|A pathologic finding about one or more characteristics of a duodenum and ampulla of Vater neuroendocrine tumor, following the rules of the TNM AJCC v8 classification system as they pertain to distant metastases.|NCI|N|
C4525600|Duodenum and ampulla of Vater neuroendocrine tumor with distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4525601|Duodenum and ampulla of Vater neuroendocrine tumor with metastasis confined to liver. (from AJCC 8th Ed.)|NCI|N|
C4525602|Duodenum and ampulla of Vater neuroendocrine tumor with metastasis in at least one extrahepatic site (e.g., lung, ovary, nonregional lymph node, peritoneum, bone). (from AJCC 8th Ed.)|NCI|N|
C4525603|Duodenum and ampulla of Vater neuroendocrine tumor with both hepatic and extrahepatic metastases. (from AJCC 8th Ed.)|NCI|N|
C4525604|A pathologic finding about one or more characteristics of a duodenum and ampulla of Vater neuroendocrine tumor, following the rules of the TNM AJCC v8 classification system as they pertain to staging of the primary tumor.|NCI|N|
C4525605|Duodenum and ampulla of Vater neuroendocrine tumor in which the primary tumor cannot be assessed. (from AJCC 8th Ed.)|NCI|N|
C4525606|Duodenum neuroendocrine tumor invading the mucosa or submucosa only and is equal or less than 1 cm; Ampulla of Vater neuroendocrine tumor measuring 1 cm or less and is confined within the sphincter of Oddi. (from AJCC 8th Ed.)|NCI|N|
C4525607|Duodenum neuroendocrine tumor invading the muscularis propria or measuring more than 1 cm; Ampulla of Vater neuroendocrine tumor invading through the sphincter of Oddi into duodenal submucosa or muscularis propria, or measuring more than 1 cm. (from AJCC 8th Ed.)|NCI|N|
C4525608|Duodenum and ampulla of Vater neuroendocrine tumor invading the pancreas or peripancreatic adipose tissue. (from AJCC 8th Ed.)|NCI|N|
C4525609|Duodenum and ampulla of Vater neuroendocrine tumor invading the visceral peritoneum (serosa) or other organs. (from AJCC 8th Ed.)|NCI|N|
C4525610|A pathologic finding about one or more characteristics of a duodenum and ampulla of Vater neuroendocrine tumor, following the rules of the TNM AJCC v8 classification system as they pertain to staging of regional lymph nodes.|NCI|N|
C4525611|Duodenum and ampulla of Vater neuroendocrine tumor in which the regional lymph nodes cannot be assessed. (from AJCC 8th Ed.)|NCI|N|
C4525612|Duodenum and ampulla of Vater neuroendocrine tumor without regional lymph node involvement. (from AJCC 8th Ed.)|NCI|N|
C4525613|Duodenum and ampulla of Vater neuroendocrine tumor with regional lymph node involvement. (from AJCC 8th Ed.)|NCI|N|
C4525614|A term that refers to the staging of a duodenal neuroendocrine tumor according to the American Joint Committee on Cancer, 8th edition. This staging system applies to well-differentiated neuroendocrine tumors of the duodenum. Carcinomas of the duodenum, including high-grade (grade 3), poorly differentiated neuroendocrine carcinomas are not included in this staging system. (from AJCC 8th Ed.)|NCI|N|
C4525615|Stage I includes: T1, N0, M0. T1: Tumor invading the mucosa or submucosa only and is equal or less than 1 cm. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4525616|Stage II includes: (T2, N0, M0); (T3, N0, M0). T2: Tumor invading the muscularis propria or measuring more than 1 cm. T3: Tumor invading the pancreas or peripancreatic adipose tissue. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4525617|Stage III includes: (T4, N0, M0); (Any T, N1, M0). T4: Tumor invading the visceral peritoneum (serosa) or other organs. N0: No regional lymph node metastasis. N1: Regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4525618|Stage IV includes: Any T, Any N, M1. M1: Distant metastasis. (AJCC 8th ed.)|NCI|N|
C4525619|A well differentiated, low, intermediate, or high grade neoplasm with neuroendocrine differentiation that arises from the duodenum.|NCI|N|
C4525620|A term that refers to the staging of an ampulla of Vater neuroendocrine tumor according to the American Joint Committee on Cancer, 8th edition. This staging system applies to well-differentiated neuroendocrine tumors of the ampulla of Vater. Carcinomas of the ampulla of Vater, including high-grade (grade 3), poorly differentiated neuroendocrine carcinomas are not included in this staging system. (from AJCC 8th Ed.)|NCI|N|
C4525621|Stage I includes: T1, N0, M0. T1: Tumor measuring 1 cm or less and is confined within the sphincter of Oddi. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4525622|Stage II includes: (T2, N0, M0); (T3, N0, M0). T2: Tumor invading through the sphincter of Oddi into duodenal submucosa or muscularis propria, or measuring more than 1 cm. T3: Tumor invading the pancreas or peripancreatic adipose tissue. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4525623|Stage III includes: (T4, N0, M0); (Any T, N1, M0). T4: Tumor invading the visceral peritoneum (serosa) or other organs. N0: No regional lymph node metastasis. N1: Regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4525624|Stage IV includes: Any T, Any N, M1. M1: Distant metastasis. (AJCC 8th ed.)|NCI|N|
C4525626|Jejunal neuroendocrine tumor is a rare, primary, malignant, epithelial neoplasm of the small intestine arising from enterochromaffin cells in the jejunum. Clinical behavior depends on the histologic grade, but initially it is generally characterized by vague abdominal symptoms (cramping, bloating, diarrhea) with insidious onset, although sometimes it could present with signs of bowel obstruction/perforation or gastrointestinal bleeding. Diagnosis in advanced stages with regional or distant spread is common, but signs of carcinoid syndrome (flushing, sweating, diarrhea) are usually not apparent until hepatic metastasis has occurred.|ORDO|N|
C4525628|Ileal neuroendocrine tumor is a rare, primary, malignant, epithelial neoplasm of the small intestine arising from enterochromaffin cells in the ileum (usually the terminal ileum). Clinical behavior depends on the histologic grade, but initially it is generally characterized by vague abdominal symptoms (cramping, bloating, diarrhea) with insidious onset, although sometimes it could present with signs of bowel obstruction/perforation or gastrointestinal bleeding. Diagnosis in advanced stages with regional or distant spread is common, but signs of carcinoid syndrome (flushing, sweating, diarrhea) are usually not apparent until hepatic metastasis has occurred.|ORDO|N|
C4525629|A finding about one or more characteristics of a jejunum and ileum neuroendocrine tumor, following the rules of the TNM AJCC v8 classification system. This classification system applies to small bowel ""carcinoid"" tumors (NET G1 and G2, and rare well-differentiated G3) arising in the jejunum and ileum. This classification system does not apply to high-grade neuroendocrine carcinomas, mixed adenoneuroendocrine carcinomas, and neuroendocrine tumors of the duodenum. (from AJCC 8th Ed.)|NCI|N|
C4525630|A clinical finding about one or more characteristics of a jejunum and ileum neuroendocrine tumor, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4525631|A clinical finding about one or more characteristics of a jejunum and ileum neuroendocrine tumor, following the rules of the TNM AJCC v8 classification system as they pertain to distant metastases.|NCI|N|
C4525632|Jejunum and ileum neuroendocrine tumor without evidence of distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4525633|Jejunum and ileum neuroendocrine tumor with distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4525634|Jejunum and ileum neuroendocrine tumor with metastasis confined to liver. (from AJCC 8th Ed.)|NCI|N|
C4525635|Jejunum and ileum neuroendocrine tumor with metastasis in at least one extrahepatic site (e.g., lung, ovary, nonregional lymph node, peritoneum, bone). (from AJCC 8th Ed.)|NCI|N|
C4525636|Jejunum and ileum neuroendocrine tumor with both hepatic and extrahepatic metastases. (from AJCC 8th Ed.)|NCI|N|
C4525637|A pathologic finding about one or more characteristics of a jejunum and ileum neuroendocrine tumor, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4525638|A pathologic finding about one or more characteristics of a jejunum and ileum neuroendocrine tumor, following the rules of the TNM AJCC v8 classification system as they pertain to distant metastases.|NCI|N|
C4525639|Jejunum and ileum neuroendocrine tumor with distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4525640|Jejunum and ileum neuroendocrine tumor with metastasis confined to liver. (from AJCC 8th Ed.)|NCI|N|
C4525641|Jejunum and ileum neuroendocrine tumor with metastasis in at least one extrahepatic site (e.g., lung, ovary, nonregional lymph node, peritoneum, bone). (from AJCC 8th Ed.)|NCI|N|
C4525642|Jejunum and ileum neuroendocrine tumor with both hepatic and extrahepatic metastases. (from AJCC 8th Ed.)|NCI|N|
C4525643|A pathologic finding about one or more characteristics of a jejunum and ileum neuroendocrine tumor, following the rules of the TNM AJCC v8 classification system as they pertain to staging of the primary tumor.|NCI|N|
C4525644|Jejunum and ileum neuroendocrine tumor in which the primary tumor cannot be assessed. (from AJCC 8th Ed.)|NCI|N|
C4525645|Jejunum and ileum neuroendocrine tumor with no evidence of primary tumor. (from AJCC 8th Ed.)|NCI|N|
C4525646|Jejunum and ileum neuroendocrine tumor invading lamina propria or submucosa and measuring 1 cm or less in size. (from AJCC 8th Ed.)|NCI|N|
C4525647|Jejunum and ileum neuroendocrine tumor invading muscularis propria or measuring more than 1 cm in size. (from AJCC 8th Ed.)|NCI|N|
C4525648|Jejunum and ileum neuroendocrine tumor invading through the muscularis propria into subserosal tissue without penetration of overlying serosa. (from AJCC 8th Ed.)|NCI|N|
C4525649|Jejunum and ileum neuroendocrine tumor invading visceral peritoneum (serosa) or other organs or adjacent structures. (from AJCC 8th Ed.)|NCI|N|
C4525650|A pathologic finding about one or more characteristics of a jejunum and ileum neuroendocrine tumor, following the rules of the TNM AJCC v8 classification system as they pertain to staging of regional lymph nodes.|NCI|N|
C4525651|Jejunum and ileum neuroendocrine tumor in which the regional lymph nodes cannot be assessed. (from AJCC 8th Ed.)|NCI|N|
C4525652|Jejunum and ileum neuroendocrine tumor without regional lymph node metastasis. (from AJCC 8th Ed.)|NCI|N|
C4525653|Jejunum and ileum neuroendocrine tumor with regional lymph node metastasis in less than 12 nodes. (from AJCC 8th Ed.)|NCI|N|
C4525654|Jejunum and ileum neuroendocrine tumor with large mesenteric masses (larger than 2 cm) and/or extensive nodal deposits (12 or greater), especially those that encase the superior mesenteric vessels. (from AJCC 8th Ed.)|NCI|N|
C4525655|A term that refers to the staging of a jejunal neuroendocrine tumor, following the rules of the TNM AJCC v8 classification system. This classification system applies to small bowel ""carcinoid"" tumors (NET G1 and G2, and rare well-differentiated G3) arising in the jejunum. This classification system does not apply to high-grade neuroendocrine carcinomas, mixed adenoneuroendocrine carcinomas, and neuroendocrine tumors of the duodenum. (from AJCC 8th Ed.)|NCI|N|
C4525656|Stage I includes: T1, N0, M0. T1: Tumor invading lamina propria or submucosa and measuring 1 cm or less in size. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4525657|Stage II includes: (T2, N0, M0); (T3, N0, M0). T2: Tumor invading muscularis propria or measuring more than 1 cm in size. T3: Tumor invading through the muscularis propria into subserosal tissue without penetration of overlying serosa. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4525658|Stage III includes: (T1, N1, N2, M0); (T2, N1, N2, M0); (T3, N1, N2, M0); (T4, N0, M0); (T4, N1, N2, M0). T1: Tumor invading lamina propria or submucosa and measuring 1 cm or less in size. T2: Tumor invading muscularis propria or measuring more than 1 cm in size. T3: Tumor invading through the muscularis propria into subserosal tissue without penetration of overlying serosa. T4: Tumor invading visceral peritoneum (serosa) or other organs or adjacent structures. N0: No regional lymph node metastasis. N1: Regional lymph node metastasis in less than 12 nodes. N2: Large mesenteric masses (larger than 2 cm) and/or extensive nodal deposits (12 or greater), especially those that encase the superior mesenteric vessels. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4525659|Stage IV includes: (T1, N0, N1, N2, M1); (T2, N0, N1, N2, M1); (T3, N0, N1, N2, M1); (T4, N0, N1, N2, M1). T1: Tumor invading lamina propria or submucosa and measuring 1 cm or less in size. T2: Tumor invading muscularis propria or measuring more than 1 cm in size. T3: Tumor invading through the muscularis propria into subserosal tissue without penetration of overlying serosa. T4: Tumor invading visceral peritoneum (serosa) or other organs or adjacent structures. N0: No regional lymph node metastasis. N1: Regional lymph node metastasis in less than 12 nodes. N2: Large mesenteric masses (larger than 2 cm) and/or extensive nodal deposits (12 or greater), especially those that encase the superior mesenteric vessels. M1: Distant metastasis. (AJCC 8th ed.)|NCI|N|
C4525660|A term that refers to the staging of an ileal neuroendocrine tumor, following the rules of the TNM AJCC v8 classification system. This classification system applies to small bowel ""carcinoid"" tumors (NET G1 and G2, and rare well-differentiated G3) arising in the ileum. This classification system does not apply to high-grade neuroendocrine carcinomas, mixed adenoneuroendocrine carcinomas, and neuroendocrine tumors of the duodenum. (from AJCC 8th Ed.)|NCI|N|
C4525661|Stage I includes: T1, N0, M0. T1: Tumor invading lamina propria or submucosa and measuring 1 cm or less in size. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4525662|Stage II includes: (T2, N0, M0); (T3, N0, M0). T2: Tumor invading muscularis propria or measuring more than 1 cm in size. T3: Tumor invading through the muscularis propria into subserosal tissue without penetration of overlying serosa. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4525663|Stage III includes: (T1, N1, N2, M0); (T2, N1, N2, M0); (T3, N1, N2, M0); (T4, N0, M0); (T4, N1, N2, M0). T1: Tumor invading lamina propria or submucosa and measuring 1 cm or less in size. T2: Tumor invading muscularis propria or measuring more than 1 cm in size. T3: Tumor invading through the muscularis propria into subserosal tissue without penetration of overlying serosa. T4: Tumor invading visceral peritoneum (serosa) or other organs or adjacent structures. N0: No regional lymph node metastasis. N1: Regional lymph node metastasis in less than 12 nodes. N2: Large mesenteric masses (larger than 2 cm) and/or extensive nodal deposits (12 or greater), especially those that encase the superior mesenteric vessels. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4525664|Stage IV includes: (T1, N0, N1, N2, M1); (T2, N0, N1, N2, M1); (T3, N0, N1, N2, M1); (T4, N0, N1, N2, M1). T1: Tumor invading lamina propria or submucosa and measuring 1 cm or less in size. T2: Tumor invading muscularis propria or measuring more than 1 cm in size. T3: Tumor invading through the muscularis propria into subserosal tissue without penetration of overlying serosa. T4: Tumor invading visceral peritoneum (serosa) or other organs or adjacent structures. N0: No regional lymph node metastasis. N1: Regional lymph node metastasis in less than 12 nodes. N2: Large mesenteric masses (larger than 2 cm) and/or extensive nodal deposits (12 or greater), especially those that encase the superior mesenteric vessels. M1: Distant metastasis. (AJCC 8th ed.)|NCI|N|
C4525665|A term that refers to the staging of a digestive system neuroendocrine tumor, following the rules of the TNM AJCC v7 classification system.|NCI|N|
C4525666|A finding about one or more characteristics of an appendiceal neuroendocrine tumor, following the rules of the TNM AJCC v8 classification system. This classification system applies to appendiceal NETs (carcinoid tumors) (NET G1 and G2, and rare well-differentiated G3). It does not apply to high-grade neuroendocrine carcinomas (NEC), goblet cell carcinoids, mixed adenocarcinomas, and adenocarcinomas of the appendix. (from AJCC 8th Ed.)|NCI|N|
C4525667|A clinical finding about one or more characteristics of an appendiceal neuroendocrine tumor, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4525668|A clinical finding about one or more characteristics of an appendiceal neuroendocrine tumor, following the rules of the TNM AJCC v8 classification system as they pertain to distant metastases.|NCI|N|
C4525669|Appendix neuroendocrine tumor without evidence of distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4525670|Appendix neuroendocrine tumor with distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4525671|Appendix neuroendocrine tumor with metastasis confined to liver. (from AJCC 8th Ed.)|NCI|N|
C4525672|Appendix neuroendocrine tumor with metastasis in at least one extrahepatic site (e.g., lung, ovary, nonregional lymph node, peritoneum, bone). (from AJCC 8th Ed.)|NCI|N|
C4525673|Appendix neuroendocrine tumor with both hepatic and extrahepatic metastases. (from AJCC 8th Ed.)|NCI|N|
C4525674|A pathologic finding about one or more characteristics of an appendiceal neuroendocrine tumor, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4525675|A pathologic finding about one or more characteristics of an appendiceal neuroendocrine tumor, following the rules of the TNM AJCC v8 classification system as they pertain to distant metastases.|NCI|N|
C4525676|Appendix neuroendocrine tumor with distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4525677|Appendix neuroendocrine tumor with metastasis confined to liver. (from AJCC 8th Ed.)|NCI|N|
C4525678|Appendix neuroendocrine tumor with metastasis in at least one extrahepatic site (e.g., lung, ovary, nonregional lymph node, peritoneum, bone). (from AJCC 8th Ed.)|NCI|N|
C4525679|Appendix neuroendocrine tumor with both hepatic and extrahepatic metastases. (from AJCC 8th Ed.)|NCI|N|
C4525680|A pathologic finding about one or more characteristics of an appendiceal neuroendocrine tumor, following the rules of the TNM AJCC v8 classification system as they pertain to staging of the primary tumor.|NCI|N|
C4525681|Appendix neuroendocrine tumor in which the primary tumor cannot be assessed. (from AJCC 8th Ed.)|NCI|N|
C4525682|Appendix neuroendocrine tumor with no evidence of primary tumor. (from AJCC 8th Ed.)|NCI|N|
C4525683|Appendix neuroendocrine tumor measuring 2 cm or less in greatest dimension. (from AJCC 8th Ed.)|NCI|N|
C4525684|Appendix neuroendocrine tumor measuring more than 2 cm but less than or equal to 4 cm. (from AJCC 8th Ed.)|NCI|N|
C4525685|Appendix neuroendocrine tumor measuring more than 4 cm or with subserosal invasion or involvement of the mesoappendix. (from AJCC 8th Ed.)|NCI|N|
C4525686|Appendix neuroendocrine tumor perforating the peritoneum or directly invading other adjacent organs or structures (excluding direct mural extension to adjacent subserosa of adjacent bowel), e.g., abdominal wall and skeletal muscle. (from AJCC 8th Ed.)|NCI|N|
C4525687|A pathologic finding about one or more characteristics of an appendiceal neuroendocrine tumor, following the rules of the TNM AJCC v8 classification system as they pertain to staging of regional lymph nodes.|NCI|N|
C4525688|Appendix neuroendocrine tumor in which the regional lymph nodes cannot be assessed. (from AJCC 8th Ed.)|NCI|N|
C4525689|Appendix neuroendocrine tumor without regional lymph node metastasis. (from AJCC 8th Ed.)|NCI|N|
C4525690|Appendix neuroendocrine tumor with regional lymph node metastasis. (from AJCC 8th Ed.)|NCI|N|
C4525691|A term that refers to the staging of an appendiceal neuroendocrine tumor, following the rules of the TNM AJCC v7 classification system.|NCI|N|
C4525692|A term that refers to the staging of an appendiceal neuroendocrine tumor, following the rules of the TNM AJCC v8 classification system. This staging system applies to appendiceal NETs (carcinoid tumors) (NET G1 and G2, and rare well-differentiated G3). High-grade neuroendocrine carcinomas (NEC), goblet cell carcinoids, mixed adenocarcinomas, and adenocarcinomas of the appendix are not staged using this staging system. (from AJCC 8th Ed.)|NCI|N|
C4525693|Stage I includes: T1, N0, M0. T1: Tumor measuring 2 cm or less in greatest dimension. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4525694|Stage II includes: (T2, N0, M0); (T3, N0, M0). T2: Tumor measuring more than 2 cm but less than or equal to 4 cm. T3: Tumor measuring more than 4 cm or with subserosal invasion or involvement of the mesoappendix. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4525695|Stage III includes: (T1, N1, M0); (T2, N1, M0); (T3, N1, M0); (T4, N0, M0); (T4, N1, M0). T1: Tumor measuring 2 cm or less in greatest dimension. T2: Tumor measuring more than 2 cm but less than or equal to 4 cm. T3: Tumor measuring more than 4 cm or with subserosal invasion or involvement of the mesoappendix. T4: Tumor perforating the peritoneum or directly invading other adjacent organs or structures (excluding direct mural extension to adjacent subserosa of adjacent bowel), e.g., abdominal wall and skeletal muscle. N0: No regional lymph node metastasis. N1: Regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4525696|Stage IV includes: (T1, N0, N1, M1); (T2, N0, N1, M1); (T3, N0, N1, M1); (T4, N0, N1, M1). T1: Tumor measuring 2 cm or less in greatest dimension. T2: Tumor measuring more than 2 cm but less than or equal to 4 cm. T3: Tumor measuring more than 4 cm or with subserosal invasion or involvement of the mesoappendix. T4: Tumor perforating the peritoneum or directly invading other adjacent organs or structures (excluding direct mural extension to adjacent subserosa of adjacent bowel), e.g., abdominal wall and skeletal muscle. N0: No regional lymph node metastasis. N1: Regional lymph node metastasis. M1: Distant metastasis. (AJCC 8th ed.)|NCI|N|
C4525697|A finding about one or more characteristics of a colorectal neuroendocrine tumor, following the rules of the TNM AJCC v8 classification system. This classification system applies to colorectal ""carcinoid"" tumors (neuroendocrine tumor G1 and G2, and rare-well differentiated G3). It does not apply to high-grade neuroendocrine carcinomas and mixed adenoneuroendocrine carcinomas of the colon and rectum. (from AJCC 8th Ed.)|NCI|N|
C4525698|A clinical finding about one or more characteristics of a colorectal neuroendocrine tumor, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4525699|A clinical finding about one or more characteristics of a colorectal neuroendocrine tumor, following the rules of the TNM AJCC v8 classification system as they pertain to distant metastases.|NCI|N|
C4525700|Colorectal neuroendocrine tumor with distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4525701|Colorectal neuroendocrine tumor with metastasis confined to liver. (from AJCC 8th Ed.)|NCI|N|
C4525702|Colorectal neuroendocrine tumor with metastasis in at least one extrahepatic site (e.g., lung, ovary, nonregional lymph node, peritoneum, bone). (from AJCC 8th Ed.)|NCI|N|
C4525703|Colorectal neuroendocrine tumor with both hepatic and extrahepatic metastases. (from AJCC 8th Ed.)|NCI|N|
C4525704|A pathologic finding about one or more characteristics of a colorectal neuroendocrine tumor, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4525705|A pathologic finding about one or more characteristics of a colorectal neuroendocrine tumor, following the rules of the TNM AJCC v8 classification system as they pertain to distant metastases.|NCI|N|
C4525706|Colorectal neuroendocrine tumor with distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4525707|Colorectal neuroendocrine tumor with metastasis confined to liver. (from AJCC 8th Ed.)|NCI|N|
C4525708|Colorectal neuroendocrine tumor with metastasis in at least one extrahepatic site (e.g., lung, ovary, nonregional lymph node, peritoneum, bone). (from AJCC 8th Ed.)|NCI|N|
C4525709|Colorectal neuroendocrine tumor with both hepatic and extrahepatic metastases. (from AJCC 8th Ed.)|NCI|N|
C4525710|A pathologic finding about one or more characteristics of a colorectal neuroendocrine tumor, following the rules of the TNM AJCC v8 classification system as they pertain to staging of regional lymph nodes.|NCI|N|
C4525711|Colorectal neuroendocrine tumor in which the regional lymph nodes cannot be assessed. (from AJCC 8th Ed.)|NCI|N|
C4525712|Colorectal neuroendocrine tumor without regional lymph node metastasis. (from AJCC 8th Ed.)|NCI|N|
C4525713|Colorectal neuroendocrine tumor with regional lymph node metastasis. (from AJCC 8th Ed.)|NCI|N|
C4525714|A pathologic finding about one or more characteristics of a colorectal neuroendocrine tumor, following the rules of the TNM AJCC v8 classification system as they pertain to staging of the primary tumor.|NCI|N|
C4525715|Colorectal neuroendocrine tumor in which the primary tumor cannot be assessed. (from AJCC 8th Ed.)|NCI|N|
C4525716|Colorectal neuroendocrine tumor with no evidence of primary tumor. (from AJCC 8th Ed.)|NCI|N|
C4525717|Colorectal neuroendocrine tumor invading the lamina propria or submucosa and measuring 2 cm or less. (from AJCC 8th Ed.)|NCI|N|
C4525718|Colorectal neuroendocrine tumor measuring less than 1 cm in greatest dimension. (from AJCC 8th Ed.)|NCI|N|
C4525719|Colorectal neuroendocrine tumor measuring 1-2 cm in greatest dimension. (from AJCC 8th Ed.)|NCI|N|
C4525720|Colorectal neuroendocrine tumor invading the muscularis propria or measuring more than 2 cm with invasion of the lamina propria or submucosa. (from AJCC 8th Ed.)|NCI|N|
C4525721|Colorectal neuroendocrine tumor invading through the muscularis propria into subserosal tissue without penetration of overlying serosa. (from AJCC 8th Ed.)|NCI|N|
C4525722|Colorectal neuroendocrine tumor invading the visceral peritoneum (serosa) or other organs or adjacent structures. (from AJCC 8th Ed.)|NCI|N|
C4525723|A stage of nuclear sclerotic cataract marked by mild yellowing and sclerosis of the lens nucleus. (Modified LOCS II)|NCI|N|
C4525724|A stage of nuclear sclerotic cataract marked by moderate yellowing and sclerosis of the lens nucleus. (Modified LOCS II)|NCI|N|
C4525725|A stage of nuclear sclerotic cataract marked by pronounced yellowing and sclerosis of the lens nucleus. (Modified LOCS II)|NCI|N|
C4525726|A stage of nuclear sclerotic cataract marked by severe yellowing and sclerosis of the lens nucleus. (Modified LOCS II)|NCI|N|
C4525727|A stage of cortical cataract characterized by 10% of the intrapupillary space obscured by opacity. (Modified LOCS II)|NCI|N|
C4525728|A stage of cortical cataract characterized by 10-50% of the intrapupillary space obscured by opacity. (Modified LOCS II)|NCI|N|
C4525729|A stage of cortical cataract characterized by 50-90% of the intrapupillary space obscured by opacity. (Modified LOCS II)|NCI|N|
C4525730|A stage of cortical cataract characterized by greater than 90% of the intrapupillary space obscured by opacity. (Modified LOCS II)|NCI|N|
C4525731|A stage of posterior subcapsular cataract characterized by 3% of the posterior capsule obscured by opacity. (Modified LOCS II)|NCI|N|
C4525732|A stage of posterior subcapsular cataract characterized by 30% of the posterior capsule obscured by opacity. (Modified LOCS II)|NCI|N|
C4525733|A stage of posterior subcapsular cataract characterized by 50% of the posterior capsule obscured by opacity. (Modified LOCS II)|NCI|N|
C4525734|A stage of posterior subcapsular cataract characterized by greater than 50% of the posterior capsule obscured by opacity. (Modified LOCS II)|NCI|N|
C4525735|A term that refers to the staging of a colorectal neuroendocrine tumor, following the rules of the TNM AJCC v8 classification system. This staging system applies to colorectal ""carcinoid"" tumors (neuroendocrine tumor G1 and G2, and rare-well differentiated G3). High-grade neuroendocrine carcinomas and mixed adenoneuroendocrine carcinomas of the colon and rectum are not staged using this staging system. (from AJCC 8th Ed.)|NCI|N|
C4525736|Stage I includes: T1, N0, M0. T1: Tumor invading the lamina propria or submucosa and measuring 2 cm or less. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4525737|Stage IIA includes: T2, N0, M0. T2: Tumor invading the muscularis propria or measuring more than 2 cm with invasion of the lamina propria or submucosa. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4525738|Stage IIB includes: T3, N0, M0. T3: Tumor invading through the muscularis propria into subserosal tissue without penetration of overlying serosa. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4525739|Stage IIIA includes: T4, N0, M0. T4: Tumor invading the visceral peritoneum (serosa) or other organs or adjacent structures. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4525740|Stage IIIB includes: (T1, N1, M0); (T2, N1, M0); (T3, N1, M0); (T4, N1, M0). T1: Tumor invading the lamina propria or submucosa and measuring 2 cm or less. T2: Tumor invading the muscularis propria or measuring more than 2 cm with invasion of the lamina propria or submucosa. T3: Tumor invading through the muscularis propria into subserosal tissue without penetration of overlying serosa. T4: Tumor invading the visceral peritoneum (serosa) or other organs or adjacent structures. N1: Regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4525741|Stage IV includes: (T1, Any N, M1); (T2, Any N, M1); (T3, Any N, M1); (T4, Any N, M1). T1: Tumor invading the lamina propria or submucosa and measuring 2 cm or less. T2: Tumor invading the muscularis propria or measuring more than 2 cm with invasion of the lamina propria or submucosa. T3: Tumor invading through the muscularis propria into subserosal tissue without penetration of overlying serosa. T4: Tumor invading the visceral peritoneum (serosa) or other organs or adjacent structures. M1: Distant metastasis. (AJCC 8th ed.)|NCI|N|
C4525742|A well differentiated, low, intermediate, or high grade neoplasm with neuroendocrine differentiation that arises from the colon.|NCI|N|
C4525744|A term that refers to the staging of a colon neuroendocrine tumor, following the rules of the TNM AJCC v8 classification system. This staging system applies to colon ""carcinoid"" tumors (neuroendocrine tumor G1 and G2, and rare-well differentiated G3). High-grade neuroendocrine carcinomas and mixed adenoneuroendocrine carcinomas of the colon are not staged using this staging system. (from AJCC 8th Ed.)|NCI|N|
C4525745|Stage I includes: T1, N0, M0. T1: Tumor invading the lamina propria or submucosa and measuring 2 cm or less. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4525746|Stage IIB includes: T3, N0, M0. T3: Tumor invading through the muscularis propria into subserosal tissue without penetration of overlying serosa. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4525748|The volume of blood remaining in a heart chamber at end ventricular diastole.|NCI|N|
C4525749|The volume of blood remaining in a heart chamber at end ventricular systole.|NCI|N|
C4525752|The estimated average blood pressure.|NCI|N|
C4525756|The percent or fraction of the right ventricular end diastolic volume ejected in systole, which is calculated as the right ventricular stroke volume divided by the right ventricular end diastolic volume.|NCI|N|
C4525757|A visual estimation of the volume of blood ejected from the right ventricle during ventricular systole.|NCI|N|
C4525767|An electrocardiographic finding of a P wave that either does not conduct to the ventricle or that does not result in ventricular activation.|NCI|N|
C4525768|An electrocardiographic finding of a compensatory supraventricular complex that occurs following a prolonged RR interval. (CDISC)|NCI|N|
C4525819|An assessment of the disease response to therapy within the involved liver.|NCI|N|
C4525820|An assessment of the response to the therapy of the non-target enhancing lesion.|NCI|N|
C4525821|An assessment of the response to the therapy of the non-target non-enhancing lesion.|NCI|N|
C4525822|An assessment of the disease response to therapy within the involved spleen.|NCI|N|
C4525856|Stage IIIA includes: T4, N0, M0. T4: Tumor invading the visceral peritoneum (serosa) or other organs or adjacent structures. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4525857|Stage IIIB includes: (T1, N1, M0); (T2, N1, M0); (T3, N1, M0); (T4, N1, M0). T1: Tumor invading the lamina propria or submucosa and measuring 2 cm or less. T2: Tumor invading the muscularis propria or measuring more than 2 cm with invasion of the lamina propria or submucosa. T3: Tumor invading through the muscularis propria into subserosal tissue without penetration of overlying serosa. T4: Tumor invading the visceral peritoneum (serosa) or other organs or adjacent structures. N1: Regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4525858|Stage IV includes: (T1, Any N, M1); (T2, Any N, M1); (T3, Any N, M1); (T4, Any N, M1). T1: Tumor invading the lamina propria or submucosa and measuring 2 cm or less. T2: Tumor invading the muscularis propria or measuring more than 2 cm with invasion of the lamina propria or submucosa. T3: Tumor invading through the muscularis propria into subserosal tissue without penetration of overlying serosa. T4: Tumor invading the visceral peritoneum (serosa) or other organs or adjacent structures. M1: Distant metastasis. (AJCC 8th ed.)|NCI|N|
C4525859|A term that refers to the staging of a rectal neuroendocrine tumor, following the rules of the TNM AJCC v8 classification system. This staging system applies to rectal ""carcinoid"" tumors (neuroendocrine tumor G1 and G2, and rare-well differentiated G3). High-grade neuroendocrine carcinomas and mixed adenoneuroendocrine carcinomas of the rectum are not staged using this staging system. (from AJCC 8th Ed.)|NCI|N|
C4525860|Stage I includes: T1, N0, M0. T1: Tumor invading the lamina propria or submucosa and measuring 2 cm or less. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4525861|Stage IIA includes: T2, N0, M0. T2: Tumor invading the muscularis propria or measuring more than 2 cm with invasion of the lamina propria or submucosa. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4525862|Stage IIB includes: T3, N0, M0. T3: Tumor invading through the muscularis propria into subserosal tissue without penetration of overlying serosa. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4525863|Stage IIIA includes: T4, N0, M0. T4: Tumor invading the visceral peritoneum (serosa) or other organs or adjacent structures. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4525864|Stage IIIB includes: (T1, N1, M0); (T2, N1, M0); (T3, N1, M0); (T4, N1, M0). T1: Tumor invading the lamina propria or submucosa and measuring 2 cm or less. T2: Tumor invading the muscularis propria or measuring more than 2 cm with invasion of the lamina propria or submucosa. T3: Tumor invading through the muscularis propria into subserosal tissue without penetration of overlying serosa. T4: Tumor invading the visceral peritoneum (serosa) or other organs or adjacent structures. N1: Regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4525865|Stage IV includes: (T1, Any N, M1); (T2, Any N, M1); (T3, Any N, M1); (T4, Any N, M1). T1: Tumor invading the lamina propria or submucosa and measuring 2 cm or less. T2: Tumor invading the muscularis propria or measuring more than 2 cm with invasion of the lamina propria or submucosa. T3: Tumor invading through the muscularis propria into subserosal tissue without penetration of overlying serosa. T4: Tumor invading the visceral peritoneum (serosa) or other organs or adjacent structures. M1: Distant metastasis. (AJCC 8th ed.)|NCI|N|
C4525867|A finding about one or more characteristics of a pancreatic neuroendocrine tumor, following the rules of the TNM AJCC v8 classification system. This classification system applies to well-differentiated neuroendocrine tumors arising in the pancreas. It does not apply to carcinomas of the pancreas, including high-grade (grade 3), poorly differentiated neuroendocrine carcinomas. (from AJCC 8th Ed.)|NCI|N|
C4525868|A clinical finding about one or more characteristics of a pancreatic neuroendocrine tumor, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4525869|A clinical finding about one or more characteristics of a pancreatic neuroendocrine tumor, following the rules of the TNM AJCC v8 classification system as they pertain to distant metastases.|NCI|N|
C4525870|Pancreatic neuroendocrine tumor without evidence of distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4525871|Pancreatic neuroendocrine tumor with distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4525872|Pancreatic neuroendocrine tumor with metastasis confined to liver. (from AJCC 8th Ed.)|NCI|N|
C4525873|Pancreatic neuroendocrine tumor with metastasis in at least one extrahepatic site (e.g., lung, ovary, nonregional lymph node, peritoneum, bone). (from AJCC 8th Ed.)|NCI|N|
C4525874|Pancreatic neuroendocrine tumor with both hepatic and extrahepatic metastases. (from AJCC 8th Ed.)|NCI|N|
C4525875|A pathologic finding about one or more characteristics of a pancreatic neuroendocrine tumor, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4525876|A pathologic finding about one or more characteristics of a pancreatic neuroendocrine tumor, following the rules of the TNM AJCC v8 classification system as they pertain to distant metastases.|NCI|N|
C4525877|Pancreatic neuroendocrine tumor with distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4525878|Pancreatic neuroendocrine tumor with metastasis confined to liver. (from AJCC 8th Ed.)|NCI|N|
C4525879|Pancreatic neuroendocrine tumor with metastasis in at least one extrahepatic site (e.g., lung, ovary, nonregional lymph node, peritoneum, bone). (from AJCC 8th Ed.)|NCI|N|
C4525880|Pancreatic neuroendocrine tumor with both hepatic and extrahepatic metastases. (from AJCC 8th Ed.)|NCI|N|
C4525881|A pathologic finding about one or more characteristics of a pancreatic neuroendocrine tumor, following the rules of the TNM AJCC v8 classification system as they pertain to staging of the primary tumor.|NCI|N|
C4525882|Pancreatic neuroendocrine tumor in which the primary tumor cannot be assessed. (from AJCC 8th Ed.)|NCI|N|
C4525883|Pancreatic neuroendocrine tumor limited to the pancreas and measuring less than 2 cm. Limited to the pancreas means there is no invasion of adjacent organs (stomach, spleen, colon, adrenal gland) or the wall of large vessels (celiac axis or the superior mesenteric artery). Extension of tumor into peripancreatic adipose tissue is not a basis for staging. (from AJCC 8th Ed.)|NCI|N|
C4525884|Pancreatic neuroendocrine tumor limited to the pancreas and measuring 2-4 cm. (from AJCC 8th Ed.)|NCI|N|
C4525885|Pancreatic neuroendocrine tumor limited to the pancreas and measuring more than 4 cm; or tumor invading the duodenum or bile duct. (from AJCC 8th Ed.)|NCI|N|
C4525886|Pancreatic neuroendocrine tumor invading adjacent organs (stomach, spleen, colon, adrenal gland) or the wall of large vessels (celiac axis or the superior mesenteric artery). (from AJCC 8th Ed.)|NCI|N|
C4525887|A pathologic finding about one or more characteristics of a pancreatic neuroendocrine tumor, following the rules of the TNM AJCC v8 classification system as they pertain to staging of regional lymph nodes.|NCI|N|
C4525888|Pancreatic neuroendocrine tumor in which the regional lymph nodes cannot be assessed. (from AJCC 8th Ed.)|NCI|N|
C4525889|Pancreatic neuroendocrine tumor without regional lymph node involvement. (from AJCC 8th Ed.)|NCI|N|
C4525890|Pancreatic neuroendocrine tumor with regional lymph node involvement. (from AJCC 8th Ed.)|NCI|N|
C4525891|A term that refers to the staging of a pancreatic neuroendocrine tumor, following the rules of the TNM AJCC v8 classification system. This staging system applies to well-differentiated neuroendocrine tumors arising in the pancreas. Carcinomas of the pancreas, including high-grade (grade 3), poorly differentiated neuroendocrine carcinomas are not staged using this staging system. (from AJCC 8th Ed.)|NCI|N|
C4525892|Stage I includes: T1, N0, M0. T1: Tumor limited to the pancreas and measuring less than 2 cm. N0: No regional lymph node involvement. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4525893|Stage II includes: (T2, N0, M0); (T3, N0, M0). T2: Tumor limited to the pancreas and measuring 2-4 cm. T3: Tumor limited to the pancreas and measuring more than 4 cm; or tumor invading the duodenum or bile duct. N0: No regional lymph node involvement. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4525894|Stage III includes: (T4, N0, M0); (Any T, N1, M0). T4: Tumor invading adjacent organs (stomach, spleen, colon, adrenal gland) or the wall of large vessels (celiac axis or the superior mesenteric artery). N0: No regional lymph node involvement. N1: Regional lymph node involvement. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4525895|Stage IV includes: Any T, Any N, M1. M1: Distant metastasis. (AJCC 8th ed.)|NCI|N|
C4525906|A response indicating that an individual has or had no pain and no disturbing body sensations.|NCI|N|
C4525907|A response indicating that an individual had mild pain or disturbing body sensations, but that they do or did not limit activities.|NCI|N|
C4525908|A response indicating that an individual has or had moderate pain or disturbing body sensations that limited a few activities.|NCI|N|
C4525909|A response indicating that an individual has or had moderate to severe pain or disturbing body sensations that limited some activities.|NCI|N|
C4525910|A response indicating that an individual has or had severe pain or disturbing body sensations that limited many activities.|NCI|N|
C4525911|A response indicating that an individual is or was fairly energetic, with no limitation of activities.|NCI|N|
C4525912|A response indicating that an individual has or had a moderate reduction in energy or pep that limited a few activities.|NCI|N|
C4525913|A response indicating that an individual has or had generally low energy or pep that limited some activities.|NCI|N|
C4525914|A response indicating that an individual has or had no energy or pep at all; felt drained, with many activities limited.|NCI|N|
C4525915|A response indicating that an individual feels or felt supported by spouse, family, and friends at most times.|NCI|N|
C4525916|A response indicating that an individual feels or felt supported by spouse, family, and friends a fair amount of the time.|NCI|N|
C4525917|A response indicating that an individual feels or felt supported by spouse, family, and friends only occasionally.|NCI|N|
C4525918|A response indicating that an individual feels or felt supported by spouse, family, and friends only rarely.|NCI|N|
C4525919|A response indicating that an individual is or was always able to express concerns to their doctor and get the needed information or advice.|NCI|N|
C4525920|A response indicating that an individual is or was able to express concerns to their doctor and get the needed information or advice most of the time.|NCI|N|
C4525921|A response indicating that an individual is or was able to express concerns to their doctor and get the needed information or advice some of the time.|NCI|N|
C4525922|A response indicating that an individual is or was rarely able to express concerns to their doctor and get the needed information or advice.|NCI|N|
C4525923|A response indicating that an individual is generally happy and free from worry, sadness, or frustration.|NCI|N|
C4525924|A response indicating that an individual has a little worry, sadness, or frustration.|NCI|N|
C4525925|A response indicating that an individual has moderate worry, sadness, or frustration.|NCI|N|
C4525926|A response indicating that an individual has quite a bit of worry, sadness, and frustration.|NCI|N|
C4525927|A response indicating that an individual has extreme worry, sadness, or frustration.|NCI|N|
C4525928|A response indicating that an individual feels or felt no urinary frequency or urgency.|NCI|N|
C4525929|A response indicating that an individual feels or felt a little urinary frequency or urgency, but it does not interfere with sleep or other activities.|NCI|N|
C4525930|A response indicating that an individual feels or felt some urinary frequency or urgency that interferes with sleep or other activities and that may make it necessary to plan ahead.|NCI|N|
C4525931|A response indicating that an individual feels or felt quite a bit of urinary frequency or urgency, making it necessary to be near a bathroom most of the time.|NCI|N|
C4525932|A response indicating that an individual feels or felt extreme urinary frequency or urgency, making it necessary to be near a bathroom always.|NCI|N|
C4525933|A response indicating that an individual never, under any circumstances leaks urine or loses bladder control.|NCI|N|
C4525934|A response indicating that an individual, on rare occasions, leaks urine or loses bladder control but that it does not interfere with any activities.|NCI|N|
C4525935|A response indicating that an individual occasionally leaks urine or loses bladder control and it interferes with a few activities.|NCI|N|
C4525938|A response indicating that an individual leaks urine or loses bladder control a moderate amount of the time and it interferes with some activities.|NCI|N|
C4525941|A response indicating that an individual leaks urine or has poor bladder control most of the time and it interferes with many activities.|NCI|N|
C4525942|A response indicating that an individual requires a clamp, catheter, or collecting bag because of leaking urine or poor bladder control.|NCI|N|
C4525944|A response indicating that an individual achieves/maintains full erections sufficient for intercourse.|NCI|N|
C4525945|A response indicating that an individual achieves/maintains erections sufficient for intercourse, but has some reduction in firmness.|NCI|N|
C4525946|A response indicating that an individual achieves/maintains erections sufficient for masturbation or foreplay only.|NCI|N|
C4525947|A response indicating that an individual achieves/maintains erections, but not firm enough for any sexual activity.|NCI|N|
C4525948|A response indicating that an individual achieves no erections at all.|NCI|N|
C4525949|A response indicating that an individual has or had their normal amount of sexual drive and interest.|NCI|N|
C4525951|A response indicating that an individual has or had a little decrease of sexual drive or interest.|NCI|N|
C4525953|A response indicating that an individual has or had no sexual drive or interest.|NCI|N|
C4525957|A response indicating that an individual has or had a moderate decrease of sexual drive or interest.|NCI|N|
C4525958|A response indicating that an individual has or had a substantial decrease of sexual drive or interest.|NCI|N|
C4525959|A response indicating that an individual has or had no diarrhea, rectal discomfort, or constipation.|NCI|N|
C4525960|A response indicating that an individual occasionally has or had diarrhea, rectal discomfort, or constipation.|NCI|N|
C4525961|A response indicating that an individual frequently has or had diarrhea, rectal discomfort, or constipation.|NCI|N|
C4525962|A response indicating that an individual nearly always has or had diarrhea, rectal discomfort, or constipation.|NCI|N|
C4525999|A molecular genetic abnormality indicating the presence of a mutation in exon 2 of the KRAS gene.|NCI|N|
C4526000|A molecular genetic abnormality indicating the presence of a mutation in exon 4 of the KRAS gene.|NCI|N|
C4526001|A molecular genetic abnormality indicating the presence of a mutation in exon 2 of the NRAS gene.|NCI|N|
C4526002|A molecular genetic abnormality indicating the presence of a mutation in exon 3 of the NRAS gene.|NCI|N|
C4526003|A molecular genetic abnormality indicating the presence of a mutation in exon 4 of the NRAS gene.|NCI|N|
C4526004|Erythroleukemia that occurs in a mouse.|NCI|N|
C4526005|Erythroleukemia that occurs in a rat.|NCI|N|
C4526006|Carcinoma of the mammary gland that occurs in a hamster.|NCI|N|
C4526007|A T-cell leukemia in which there is a persistent increase in the number of large granular lymphocytes in the peripheral blood and occurring in a cat.|NCI|N|
C4526009|A nucleotide substitution at position 1474 of the coding sequence of the EGFR gene where adenine has been mutated to cytosine.|NCI|N|
C4526010|A nucleotide substitution at position 1476 of the coding sequence of the EGFR gene where cytosine has been mutated to adenine.|NCI|N|
C4526011|A change in the amino acid residue at position 492 in the epidermal growth factor receptor protein where serine has been replaced by arginine.|NCI|N|
C4526514|A carcinoma that originates from the rectum and has spread to the liver.|NCI|N|
C4526553|A variation in the amino acid sequence for the hepatocyte growth factor receptor protein.|NCI|N|
C4526554|A change in the amino acid residue at position 1003 in the hepatocyte growth factor receptor protein where tyrosine has been replaced by another amino acid.|NCI|N|
C4526556|A finding about one or more characteristics of thoracic cancer, following the rules of the TNM AJCC v8 classification system. It refers to thymic tumors, lung carcinoma, and malignant pleural mesothelioma.|NCI|N|
C4526557|A finding about one or more characteristics of a thymic tumor, following the rules of the TNM AJCC v8 classification system. This classification system applies to thymomas, thymic carcinomas, thymic neuroendocrine tumors, and combined thymic carcinomas. (from AJCC 8th Ed.)|NCI|N|
C4526558|A clinical finding about one or more characteristics of a thymic tumor, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4526559|A clinical finding about one or more characteristics of a thymic tumor, following the rules of the TNM AJCC v8 classification system as they pertain to distant metastases.|NCI|N|
C4526560|Thymic tumor without evidence of pleural, pericardial, or distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4526561|Thymic tumor with pleural, pericardial, or distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4526562|Thymic tumor with separate pleural or pericardial nodule(s). (from AJCC 8th Ed.)|NCI|N|
C4526563|Thymic tumor with pulmonary intraparenchymal nodule or distant organ metastasis. (from AJCC 8th Ed.)|NCI|N|
C4526564|A pathologic finding about one or more characteristics of a thymic tumor, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4526565|A pathologic finding about one or more characteristics of a thymic tumor, following the rules of the TNM AJCC v8 classification system as they pertain to distant metastases.|NCI|N|
C4526566|Thymic tumor with separate pleural or pericardial nodule(s). (from AJCC 8th Ed.)|NCI|N|
C4526567|Thymic tumor with pulmonary intraparenchymal nodule or distant organ metastasis. (from AJCC 8th Ed.)|NCI|N|
C4526568|A pathologic finding about one or more characteristics of a thymic tumor, following the rules of the TNM AJCC v8 classification system as they pertain to staging of the primary tumor.|NCI|N|
C4526569|Thymic tumor in which the primary tumor cannot be assessed. (from AJCC 8th Ed.)|NCI|N|
C4526570|Thymic tumor without evidence of primary tumor. (from AJCC 8th Ed.)|NCI|N|
C4526571|Thymic tumor which is encapsulated or extends into the mediastinal fat; may involve the mediastinal pleura. (from AJCC 8th Ed.)|NCI|N|
C4526572|Thymic tumor with no mediastinal pleura involvement. (from AJCC 8th Ed.)|NCI|N|
C4526573|Thymic tumor with direct invasion of mediastinal pleura. (from AJCC 8th Ed.)|NCI|N|
C4526574|Thymic tumor with direct invasion of the pericardium (either partial or full thickness). (from AJCC 8th Ed.)|NCI|N|
C4526575|Thymic tumor with direct invasion into any of the following: lung, brachiocephalic vein, superior vena cava, phrenic nerve, chest wall, or extrapericardial pulmonary artery or veins. (from AJCC 8th Ed.)|NCI|N|
C4526576|Thymic tumor with invasion into any of the following: aorta (ascending, arch, or descending), arch vessels, intrapericardial pulmonary artery, myocardium, trachea, esophagus. (from AJCC 8th Ed.)|NCI|N|
C4526577|A pathologic finding about one or more characteristics of a thymic tumor, following the rules of the TNM AJCC v8 classification system as they pertain to staging of regional lymph nodes.|NCI|N|
C4526578|Thymic tumor in which the regional lymph nodes cannot be assessed. (from AJCC 8th Ed.)|NCI|N|
C4526579|Thymic tumor without regional lymph node metastasis. (from AJCC 8th Ed.)|NCI|N|
C4526580|Thymic tumor with metastasis in anterior (perithymic) lymph nodes. (from AJCC 8th Ed.)|NCI|N|
C4526581|Thymic tumor with metastasis in deep intrathoracic or cervical lymph nodes. (from AJCC 8th Ed.)|NCI|N|
C4526582|A term that refers to the staging of a thymic epithelial neoplasm, following the rules of the TNM AJCC v8 classification system. This staging system applies to thymomas, thymic carcinomas, thymic neuroendocrine tumors, and combined thymic carcinomas. (from AJCC 8th Ed.)|NCI|N|
C4526584|Stage I includes: T1a, b, N0, M0. T1a: Tumor with no mediastinal pleura involvement. T1b: Tumor with direct invasion of mediastinal pleura. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4526585|Stage II includes: T2, N0, M0. T2: Tumor with direct invasion of the pericardium (either partial or full thickness). N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4526587|Stage III includes: IIIA: (T3, N0, M0); IIIB: (T4, N0, M0). T3: Tumor with direct invasion into any of the following: lung, brachiocephalic vein, superior vena cava, phrenic nerve, chest wall, or extrapericardial pulmonary artery or veins. T4: Tumor with invasion into any of the following: aorta (ascending, arch, or descending), arch vessels, intrapericardial pulmonary artery, myocardium, trachea, esophagus. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4526589|Stage IIIA includes: T3, N0, M0. T3: Tumor with direct invasion into any of the following: lung, brachiocephalic vein, superior vena cava, phrenic nerve, chest wall, or extrapericardial pulmonary artery or veins. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4526590|Stage IIIB includes: T4, N0, M0. T4: Tumor with invasion into any of the following: aorta (ascending, arch, or descending), arch vessels, intrapericardial pulmonary artery, myocardium, trachea, esophagus. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4526591|Stage IV includes: IVA: (Any T, N1, M0); (Any T, N0,1, M1a); IVB: (Any T, N2, M0, M1a); (Any T, Any N, M1b). N0: No regional lymph node metastasis. N1: Metastasis in anterior (perithymic) lymph nodes. N2: Metastasis in deep intrathoracic or cervical lymph nodes. M0: No distant metastasis. M1a: Separate pleural or pericardial nodule(s). M1b: Pulmonary intraparenchymal nodule or distant organ metastasis. (AJCC 8th ed.)|NCI|N|
C4526592|Stage IVA includes: (Any T, N1, M0); (Any T, N0,1, M1a). N0: No regional lymph node metastasis. N1: Metastasis in anterior (perithymic) lymph nodes. M0: No distant metastasis. M1a: Separate pleural or pericardial nodule(s). (AJCC 8th ed.)|NCI|N|
C4526593|Stage IVB includes: (Any T, N2, M0, M1a); (Any T, Any N, M1b). N2: Metastasis in deep intrathoracic or cervical lymph nodes. M0: No distant metastasis. M1a: Separate pleural or pericardial nodule(s). M1b: Pulmonary intraparenchymal nodule or distant organ metastasis. (AJCC 8th ed.)|NCI|N|
C4526594|A response indicating that something happens or happened for a very short time.|NCI|N|
C4526604|A term that refers to the staging of thymoma, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4526607|Stage I includes: T1a, b, N0, M0. T1a: Tumor with no mediastinal pleura involvement. T1b: Tumor with direct invasion of mediastinal pleura. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4526608|Stage II includes: T2, N0, M0. T2: Tumor with direct invasion of the pericardium (either partial or full thickness). N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4526609|Stage III includes: IIIA: (T3, N0, M0); IIIB: (T4, N0, M0). T3: Tumor with direct invasion into any of the following: lung, brachiocephalic vein, superior vena cava, phrenic nerve, chest wall, or extrapericardial pulmonary artery or veins. T4: Tumor with invasion into any of the following: aorta (ascending, arch, or descending), arch vessels, intrapericardial pulmonary artery, myocardium, trachea, esophagus. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4526610|Stage IIIA includes: T3, N0, M0. T3: Tumor with direct invasion into any of the following: lung, brachiocephalic vein, superior vena cava, phrenic nerve, chest wall, or extrapericardial pulmonary artery or veins. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4526611|Stage IIIB includes: T4, N0, M0. T4: Tumor with invasion into any of the following: aorta (ascending, arch, or descending), arch vessels, intrapericardial pulmonary artery, myocardium, trachea, esophagus. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4526612|Stage IV includes: IVA: (Any T, N1, M0); (Any T, N0,1, M1a); IVB: (Any T, N2, M0, M1a); (Any T, Any N, M1b). N0: No regional lymph node metastasis. N1: Metastasis in anterior (perithymic) lymph nodes. N2: Metastasis in deep intrathoracic or cervical lymph nodes. M0: No distant metastasis. M1a: Separate pleural or pericardial nodule(s). M1b: Pulmonary intraparenchymal nodule or distant organ metastasis. (AJCC 8th ed.)|NCI|N|
C4526613|Stage IVA includes: (Any T, N1, M0); (Any T, N0,1, M1a). N0: No regional lymph node metastasis. N1: Metastasis in anterior (perithymic) lymph nodes. M0: No distant metastasis. M1a: Separate pleural or pericardial nodule(s). (AJCC 8th ed.)|NCI|N|
C4526615|Stage IVB includes: (Any T, N2, M0, M1a); (Any T, Any N, M1b). N2: Metastasis in deep intrathoracic or cervical lymph nodes. M0: No distant metastasis. M1a: Separate pleural or pericardial nodule(s). M1b: Pulmonary intraparenchymal nodule or distant organ metastasis. (AJCC 8th ed.)|NCI|N|
C4526630|A term that refers to the staging of pleural malignant mesothelioma, following the rules of the TNM AJCC v7 classification system.|NCI|N|
C4526634|A finding about one or more characteristics of pleural malignant mesothelioma, following the rules of the TNM AJCC v8 classification system. This classification system applies to pleural diffuse malignant mesothelioma only. Localized pleural malignant mesotheliomas and other primary tumors of the pleura are not included in this classification. (from AJCC 8th Ed.)|NCI|N|
C4526635|A clinical finding about one or more characteristics of pleural malignant mesothelioma, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4526636|A clinical finding about one or more characteristics of pleural malignant mesothelioma, following the rules of the TNM AJCC v8 classification system as they pertain to distant metastases.|NCI|N|
C4526637|Pleural malignant mesothelioma without distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4526638|Pleural malignant mesothelioma with distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4526639|A pathologic finding about one or more characteristics of pleural malignant mesothelioma, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4526640|A pathologic finding about one or more characteristics of pleural malignant mesothelioma, following the rules of the TNM AJCC v8 classification system as they pertain to distant metastases.|NCI|N|
C4526641|Pleural malignant mesothelioma with distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4526642|A pathologic finding about one or more characteristics of pleural malignant mesothelioma, following the rules of the TNM AJCC v8 classification system as they pertain to staging of the primary tumor.|NCI|N|
C4526643|Pleural malignant mesothelioma in which the primary tumor cannot be assessed. (from AJCC 8th Ed.)|NCI|N|
C4526644|Pleural malignant mesothelioma without evidence of primary tumor. (from AJCC 8th Ed.)|NCI|N|
C4526645|Pleural malignant mesothelioma with tumor involving each of the ipsilateral pleural surfaces (parietal, mediastinal, diaphragmatic, and visceral pleura) with at least one of the following features: involvement of diaphragmatic muscle and/or extension of tumor from visceral pleura into the underlying pulmonary parenchyma. (from AJCC 8th Ed.)|NCI|N|
C4526646|Pleural malignant mesothelioma in which the tumor is locally advanced but potentially resectable. The tumor involves all the ipsilateral pleural surfaces (parietal, mediastinal, diaphragmatic, and visceral pleura) with at least one of the following features: involvement of the endothoracic fascia, extension into the mediastinal fat, solitary, completely resectable focus of tumor extending into the soft tissues of the chest wall, and/or nontransmural involvement of the pericardium. (from AJCC 8th Ed.)|NCI|N|
C4526647|Pleural malignant mesothelioma in which the tumor is locally advanced and technically unresectable. The tumor involves all the ipsilateral pleural surfaces (parietal, mediastinal, diaphragmatic, and visceral pleura) with at least one of the following features: diffuse extension or multifocal masses of tumor in the chest wall, with or without associated rib destruction, direct transdiaphragmatic extension of tumor to the peritoneum, direct extension of tumor to the contralateral pleura, direct extension of tumor to mediastinal organs, direct extension of tumor into the spine, and/or tumor extending through to the internal surface of the pericardium with or without a pericardial effusion; or tumor involving the myocardium. (from AJCC 8th Ed.)|NCI|N|
C4526648|A pathologic finding about one or more characteristics of pleural malignant mesothelioma, following the rules of the TNM AJCC v8 classification system as they pertain to staging of regional lymph nodes.|NCI|N|
C4526649|Pleural malignant mesothelioma in which the regional lymph nodes cannot be assessed. (from AJCC 8th Ed.)|NCI|N|
C4526650|Pleural malignant mesothelioma without regional lymph node metastases. (from AJCC 8th Ed.)|NCI|N|
C4526651|Pleural malignant mesothelioma with metastases in the ipsilateral bronchopulmonary, hilar, or mediastinal (including the internal mammary, peridiaphragmatic, pericardial fat pad, or intercostal) lymph nodes. (from AJCC 8th Ed.)|NCI|N|
C4526652|Pleural malignant mesothelioma with metastases in the contralateral mediastinal, ipsilateral, or contralateral supraclavicular lymph nodes. (from AJCC 8th Ed.)|NCI|N|
C4526653|A term that refers to the staging of pleural malignant mesothelioma, following the rules of the TNM AJCC v8 classification system. This staging system applies to pleural diffuse malignant mesothelioma only. Localized pleural malignant mesotheliomas and other primary tumors of the pleura are not staged using this staging system. (from AJCC 8th Ed.)|NCI|N|
C4526654|Stage IIIA includes: T3, N1, M0. T3: Tumor is locally advanced but potentially resectable. The tumor involves all the ipsilateral pleural surfaces (parietal, mediastinal, diaphragmatic, and visceral pleura) with at least one of the following features: involvement of the endothoracic fascia, extension into the mediastinal fat, solitary, completely resectable focus of tumor extending into the soft tissues of the chest wall, and/or nontransmural involvement of the pericardium. N1: Metastases in the ipsilateral bronchopulmonary, hilar, or mediastinal (including the internal mammary, peridiaphragmatic, pericardial fat pad, or intercostal) lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4526655|Stage IIIB includes: (T1-3, N2, M0); (T4, Any N, M0). T1: Tumor limited to the ipsilateral parietal with or without involvement of visceral pleura, mediastinal pleura, and diaphragmatic pleura. T2: Tumor involving each of the ipsilateral pleural surfaces (parietal, mediastinal, diaphragmatic, and visceral pleura) with at least one of the following features: involvement of diaphragmatic muscle and/or extension of tumor from visceral pleura into the underlying pulmonary parenchyma. T3: Tumor is locally advanced but potentially resectable. The tumor involves all the ipsilateral pleural surfaces (parietal, mediastinal, diaphragmatic, and visceral pleura) with at least one of the following features: involvement of the endothoracic fascia, extension into the mediastinal fat, solitary, completely resectable focus of tumor extending into the soft tissues of the chest wall, and/or nontransmural involvement of the pericardium. T4: Tumor is locally advanced and technically unresectable. The tumor involves all the ipsilateral pleural surfaces (parietal, mediastinal, diaphragmatic, and visceral pleura) with at least one of the following features: diffuse extension or multifocal masses of tumor in the chest wall, with or without associated rib destruction, direct transdiaphragmatic extension of tumor to the peritoneum, direct extension of tumor to the contralateral pleura, direct extension of tumor to mediastinal organs, direct extension of tumor into the spine, and/or tumor extending through to the internal surface of the pericardium with or without a pericardial effusion; or tumor involving the myocardium. N2: Metastases in the contralateral mediastinal, ipsilateral, or contralateral supraclavicular lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4526657|A malignant germ cell tumor that affects the peritoneum.|NCI|N|
C4526663|A change in the nucleotide sequence in a PDGFR family gene.|NCI|N|
C4526665|A change in the nucleotide sequence in a VEGFR family gene.|NCI|N|
C4526666|A change in the nucleotide sequence in a JAK family gene.|NCI|N|
C4526667|A change in the nucleotide sequence in a STAT family gene.|NCI|N|
C4526668|A change in the nucleotide sequence in a MEK family gene.|NCI|N|
C4526669|A change in the nucleotide sequence in a ERK family gene.|NCI|N|
C4526671|A change in the nucleotide sequence in a RAF family gene.|NCI|N|
C4526673|A squamous cell carcinoma that arises from the head and neck region and is not amenable to surgical resection.|NCI|N|
C4526675|A finding about one or more characteristics of lung cancer, following the rules of the TNM AJCC v8 classification system. This classification system derives from analyses of the new retrospective and prospective databases of the International Association for the Study of Lung Cancer (IASLC). These databases contain information on patients diagnosed with lung cancer from 1999 to 2010 originating from 35 different databases in 16 countries around the world. This classification system applies to carcinomas of the lung, including non-small cell and small cell carcinomas, and bronchopulmonary carcinoid tumors. It does not apply to sarcomas or other rare tumors of the lung. (from AJCC 8th Ed.)|NCI|N|
C4526676|A clinical finding about one or more characteristics of lung cancer, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4526677|A clinical finding about one or more characteristics of lung cancer, following the rules of the TNM AJCC v8 classification system as they pertain to distant metastases.|NCI|N|
C4526678|Lung cancer without distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4526679|Lung cancer with distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4526680|Lung cancer with separate tumor nodule(s) in a contralateral lobe; tumor with pleural or pericardial nodules or malignant pleural or pericardial effusion. Most pleural (pericardial) effusions with lung cancer are a result of the tumor. In a few patients, however, multiple microscopic examinations of pleural (pericardial) fluid are negative for tumor, and the fluid is nonbloody and not an exudate. If these elements and clinical judgment dictate that the effusion is not related to the tumor, the effusion should be excluded as a staging descriptor. (from AJCC 8th Ed.)|NCI|N|
C4526681|Lung cancer with single extrathoracic metastasis in a single organ (including involvement of a single nonregional node). (from AJCC 8th Ed.)|NCI|N|
C4526682|Lung cancer with multiple extrathoracic metastases in a single organ or in multiple organs. (from AJCC 8th Ed.)|NCI|N|
C4526683|A pathologic finding about one or more characteristics of lung cancer, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4526684|A pathologic finding about one or more characteristics of lung cancer, following the rules of the TNM AJCC v8 classification system as they pertain to distant metastases.|NCI|N|
C4526685|Lung cancer with distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4526686|Lung cancer with separate tumor nodule(s) in a contralateral lobe; tumor with pleural or pericardial nodules or malignant pleural or pericardial effusion. Most pleural (pericardial) effusions with lung cancer are a result of the tumor. In a few patients, however, multiple microscopic examinations of pleural (pericardial) fluid are negative for tumor, and the fluid is nonbloody and not an exudate. If these elements and clinical judgment dictate that the effusion is not related to the tumor, the effusion should be excluded as a staging descriptor. (from AJCC 8th Ed.)|NCI|N|
C4526687|Lung cancer with single extrathoracic metastasis in a single organ (including involvement of a single nonregional node). (from AJCC 8th Ed.)|NCI|N|
C4526688|Lung cancer with multiple extrathoracic metastases in a single organ or in multiple organs. (from AJCC 8th Ed.)|NCI|N|
C4526689|A pathologic finding about one or more characteristics of lung cancer, following the rules of the TNM AJCC v8 classification system as they pertain to staging of the primary tumor.|NCI|N|
C4526690|Lung cancer in which the primary tumor cannot be assessed. (from AJCC 8th Ed.)|NCI|N|
C4526691|Lung cancer without evidence of primary tumor. (from AJCC 8th Ed.)|NCI|N|
C4526692|Lung cancer with a finding of carcinoma in situ. Squamous cell carcinoma in situ (SCIS). Adenocarcinoma in situ (AIS): adenocarcinoma with pure lepidic pattern, 3 cm or less in greatest dimension. (from AJCC 8th Ed.)|NCI|N|
C4526693|Lung cancer with tumor 3 cm or less in greatest dimension, surrounded by lung or visceral pleura, without bronchoscopic evidence of invasion more proximal than the lobar bronchus (i.e., not in the main bronchus). (from AJCC 8th Ed.)|NCI|N|
C4526694|Lung cancer with minimally invasive adenocarcinoma: adenocarcinoma (3 cm or less in greatest dimension) with a predominantly lepidic pattern and 5 mm or less invasion in greatest dimension. (from AJCC 8th Ed.)|NCI|N|
C4526695|Lung cancer with tumor 1 cm or less in greatest dimension. A superficial, spreading tumor of any size whose invasive component is limited to the bronchial wall and may extend proximal to the main bronchus also is classified as T1a, but these tumors are uncommon. (from AJCC 8th Ed.)|NCI|N|
C4526696|Lung cancer with tumor measuring more than 1 cm but 2 cm or less in greatest dimension. (from AJCC 8th Ed.)|NCI|N|
C4526697|Lung cancer with tumor measuring more than 2 cm but 3 cm or less in greatest dimension. (from AJCC 8th Ed.)|NCI|N|
C4526698|Lung cancer with tumor measuring more than 3 cm but 5 cm or less in greatest dimension or having any of the following features: involves the main bronchus regardless of distance to the carina, but without involvement of the carina, invades visceral pleura (extends through the elastic layer-PL1 or extends to the surface of the visceral pleura-PL2), or is associated with atelectasis or obstructive pneumonitis that extends to the hilar region, involving part or all of the lung. T2 tumors with these features are classified as T2a if they measure 4 cm or less or if the size cannot be determined and T2b if they measure more than 4 cm but 5 cm or less in greatest dimension. (from AJCC 8th Ed.)|NCI|N|
C4526699|Lung cancer with tumor measuring more than 3 cm but 4 cm or less in greatest dimension. (from AJCC 8th Ed.)|NCI|N|
C4526700|Lung cancer with tumor measuring more than 5 cm but 7 cm or less in greatest dimension or directly invading any of the following: parietal pleura (PL3), chest wall (including superior sulcus tumors), phrenic nerve, parietal pericardium; or separate tumor nodule(s) in the same lobe as the primary. (from AJCC 8th Ed.)|NCI|N|
C4526701|Lung cancer with tumor measuring more than 7 cm or tumor of any size invading one or more of the following: diaphragm, mediastinum, heart, great vessels, trachea, recurrent laryngeal nerve, esophagus, vertebral body, or carina; separate tumor nodule(s) in an ipsilateral lobe different from that of the primary. (from AJCC 8th Ed.)|NCI|N|
C4526702|A pathologic finding about one or more characteristics of lung cancer, following the rules of the TNM AJCC v8 classification system as they pertain to staging of regional lymph nodes.|NCI|N|
C4526703|Lung cancer in which the regional lymph nodes cannot be assessed. (from AJCC 8th Ed.)|NCI|N|
C4526704|Lung cancer without regional lymph node metastasis. (from AJCC 8th Ed.)|NCI|N|
C4526705|Lung cancer with metastasis in ipsilateral peribronchial and/or ipsilateral hilar lymph nodes and intrapulmonary nodes, including involvement by direct extension. (from AJCC 8th Ed.)|NCI|N|
C4526706|Lung cancer with metastasis in ipsilateral mediastinal and/or subcarinal lymph node(s). (from AJCC 8th Ed.)|NCI|N|
C4526707|Lung cancer with metastasis in contralateral mediastinal, contralateral hilar, ipsilateral or contralateral scalene, or supraclavicular lymph node(s). (from AJCC 8th Ed.)|NCI|N|
C4526710|A term that refers to the staging of lung cancer, following the rules of the TNM AJCC v8 classification system. This staging system derives from analyses of the new retrospective and prospective databases of the International Association for the Study of Lung Cancer (IASLC). These databases contain information on patients diagnosed with lung cancer from 1999 to 2010 originating from 35 different databases in 16 countries around the world. This staging system applies to carcinomas of the lung, including non-small cell and small cell carcinomas, and bronchopulmonary carcinoid tumors. It does not apply to sarcomas or other rare tumors of the lung. (from AJCC 8th Ed.)|NCI|N|
C4526711|Occult lung cancer includes: TX, N0, M0. TX: Primary tumor cannot be assessed. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4526712|Stage 0 includes: Tis, N0, M0. Tis: Carcinoma in situ. Squamous cell carcinoma in situ (SCIS). Adenocarcinoma in situ (AIS): adenocarcinoma with pure lepidic pattern, 3 cm or less in greatest dimension. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4526713|Stage I includes: IA1: (T1mi, N0, M0); (T1a, N0, M0); IA2: (T1b, N0, M0); IA3: (T1c, N0, M0); IB: (T2a, N0, M0). T1mi: Minimally invasive adenocarcinoma: adenocarcinoma (3 cm or less in greatest dimension) with a predominantly lepidic pattern and 5 mm or less invasion in greatest dimension. T1a: Tumor measuring 1 cm or less in greatest dimension. A superficial, spreading tumor of any size whose invasive component is limited to the bronchial wall and may extend proximal to the main bronchus also is classified as T1a, but these tumors are uncommon. T1b: Tumor measuring more than 1 cm but 2 cm or less in greatest dimension. T1c: Tumor measuring more than 2 cm but 3 cm or less in greatest dimension. T2a: Tumor measuring more than 3 cm but 4 cm or less in greatest dimension. N0: No regional lymph node metastases. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4526714|Stage IA1 includes: IA1: (T1mi, N0, M0); (T1a, N0, M0). T1mi: Minimally invasive adenocarcinoma: adenocarcinoma (3 cm or less in greatest dimension) with a predominantly lepidic pattern and 5 mm or less invasion in greatest dimension. T1a: Tumor measuring 1 cm or less in greatest dimension. A superficial, spreading tumor of any size whose invasive component is limited to the bronchial wall and may extend proximal to the main bronchus also is classified as T1a, but these tumors are uncommon. N0: No regional lymph node metastases. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4526715|Stage IA2 includes: T1b, N0, M0. T1b: Tumor measuring more than 1 cm but 2 cm or less in greatest dimension. N0: No regional lymph node metastases. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4526716|Stage IA3 includes: T1c, N0, M0. T1c: Tumor measuring more than 2 cm but 3 cm or less in greatest dimension. N0: No regional lymph node metastases. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4526717|Stage IB includes: T2a, N0, M0. T2a: Tumor measuring more than 3 cm but 4 cm or less in greatest dimension. N0: No regional lymph node metastases. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4526718|Stage II includes: IIA: (T2b, N0, M0); IIB: (T1a, N1, M0); (T1b, N1, M0); (T1c, N1, M0); (T2a, N1, M0); (T2b, N1, M0); (T3, N0, M0). T2b: Tumor measuring more than 4 cm but 5 cm or less in greatest dimension. T1a: Tumor measuring 1 cm or less in greatest dimension. A superficial, spreading tumor of any size whose invasive component is limited to the bronchial wall and may extend proximal to the main bronchus also is classified as T1a, but these tumors are uncommon. T1b: Tumor measuring more than 1 cm but 2 cm or less in greatest dimension. T1c: Tumor measuring more than 2 cm but 3 cm or less in greatest dimension. T2a: Tumor measuring more than 3 cm but 4 cm or less in greatest dimension. T3: Tumor measuring more than 5 cm but 7 cm or less in greatest dimension or directly invading any of the following: parietal pleura (PL3), chest wall (including superior sulcus tumors), phrenic nerve, parietal pericardium; or separate tumor nodule(s) in the same lobe as the primary. N0: No regional lymph node metastases. N1: Metastasis in ipsilateral peribronchial and/or ipsilateral hilar lymph nodes and intrapulmonary nodes, including involvement by direct extension. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4526719|Stage IIA includes: T2b, N0, M0. T2b: Tumor measuring more than 4 cm but 5 cm or less in greatest dimension. N0: No regional lymph node metastases. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4526720|Stage IIB includes: (T1a, N1, M0); (T1b, N1, M0); (T1c, N1, M0); (T2a, N1, M0); (T2b, N1, M0); (T3, N0, M0). T1a: Tumor measuring 1 cm or less in greatest dimension. A superficial, spreading tumor of any size whose invasive component is limited to the bronchial wall and may extend proximal to the main bronchus also is classified as T1a, but these tumors are uncommon. T1b: Tumor measuring more than 1 cm but 2 cm or less in greatest dimension. T1c: Tumor measuring more than 2 cm but 3 cm or less in greatest dimension. T2a: Tumor measuring more than 3 cm but 4 cm or less in greatest dimension. T2b: Tumor measuring more than 4 cm but 5 cm or less in greatest dimension. T3: Tumor measuring more than 5 cm but 7 cm or less in greatest dimension or directly invading any of the following: parietal pleura (PL3), chest wall (including superior sulcus tumors), phrenic nerve, parietal pericardium; or separate tumor nodule(s) in the same lobe as the primary. N0: No regional lymph node metastases. N1: Metastasis in ipsilateral peribronchial and/or ipsilateral hilar lymph nodes and intrapulmonary nodes, including involvement by direct extension. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4526721|Stage III includes: IIIA: (T1a, N2, M0); (T1b, N2, M0); (T1c, N2, M0); (T2a, N2, M0); (T2b, N2, M0); (T3, N1, M0); (T4, N0, M0); (T4, N1, M0); IIIB: (T1a, N3, M0); (T1b, N3, M0); (T1c, N3, M0); (T2a, N3, M0); (T2b, N3, M0); (T3, N2, M0); (T4, N2, M0); IIIC: (T3, N3, M0); (T4, N3, M0). T1a: Tumor measuring 1 cm or less in greatest dimension. A superficial, spreading tumor of any size whose invasive component is limited to the bronchial wall and may extend proximal to the main bronchus also is classified as T1a, but these tumors are uncommon. T1b: Tumor measuring more than 1 cm but 2 cm or less in greatest dimension. T1c: Tumor measuring more than 2 cm but 3 cm or less in greatest dimension. T2a: Tumor measuring more than 3 cm but 4 cm or less in greatest dimension. T2b: Tumor measuring more than 4 cm but 5 cm or less in greatest dimension. T3: Tumor measuring more than 5 cm but 7 cm or less in greatest dimension or directly invading any of the following: parietal pleura (PL3), chest wall (including superior sulcus tumors), phrenic nerve, parietal pericardium; or separate tumor nodule(s) in the same lobe as the primary. T4: Tumor measuring more than 7 cm or tumor of any size invading one or more of the following: diaphragm, mediastinum, heart, great vessels, trachea, recurrent laryngeal nerve, esophagus, vertebral body, or carina; separate tumor nodule(s) in an ipsilateral lobe different from that of the primary. N0: No regional lymph node metastases. N1: Metastasis in ipsilateral peribronchial and/or ipsilateral hilar lymph nodes and intrapulmonary nodes, including involvement by direct extension. N2: Metastasis in ipsilateral mediastinal and/or subcarinal lymph node(s). N3: Metastasis in contralateral mediastinal, contralateral hilar, ipsilateral or contralateral scalene, or supraclavicular lymph node(s). M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4526722|Stage IIIA includes: (T1a, N2, M0); (T1b, N2, M0); (T1c, N2, M0); (T2a, N2, M0); (T2b, N2, M0); (T3, N1, M0); (T4, N0, M0); (T4, N1, M0). T1a: Tumor measuring 1 cm or less in greatest dimension. A superficial, spreading tumor of any size whose invasive component is limited to the bronchial wall and may extend proximal to the main bronchus also is classified as T1a, but these tumors are uncommon. T1b: Tumor measuring more than 1 cm but 2 cm or less in greatest dimension. T1c: Tumor measuring more than 2 cm but 3 cm or less in greatest dimension. T2a: Tumor measuring more than 3 cm but 4 cm or less in greatest dimension. T2b: Tumor measuring more than 4 cm but 5 cm or less in greatest dimension. T3: Tumor measuring more than 5 cm but 7 cm or less in greatest dimension or directly invading any of the following: parietal pleura (PL3), chest wall (including superior sulcus tumors), phrenic nerve, parietal pericardium; or separate tumor nodule(s) in the same lobe as the primary. T4: Tumor measuring more than 7 cm or tumor of any size invading one or more of the following: diaphragm, mediastinum, heart, great vessels, trachea, recurrent laryngeal nerve, esophagus, vertebral body, or carina; separate tumor nodule(s) in an ipsilateral lobe different from that of the primary. N0: No regional lymph node metastases. N1: Metastasis in ipsilateral peribronchial and/or ipsilateral hilar lymph nodes and intrapulmonary nodes, including involvement by direct extension. N2: Metastasis in ipsilateral mediastinal and/or subcarinal lymph node(s). M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4526723|Stage IIIB includes: (T1a, N3, M0); (T1b, N3, M0); (T1c, N3, M0); (T2a, N3, M0); (T2b, N3, M0); (T3, N2, M0); (T4, N2, M0). T1a: Tumor measuring 1 cm or less in greatest dimension. A superficial, spreading tumor of any size whose invasive component is limited to the bronchial wall and may extend proximal to the main bronchus also is classified as T1a, but these tumors are uncommon. T1b: Tumor measuring more than 1 cm but 2 cm or less in greatest dimension. T1c: Tumor measuring more than 2 cm but 3 cm or less in greatest dimension. T2a: Tumor measuring more than 3 cm but 4 cm or less in greatest dimension. T2b: Tumor measuring more than 4 cm but 5 cm or less in greatest dimension. T3: Tumor measuring more than 5 cm but 7 cm or less in greatest dimension or directly invading any of the following: parietal pleura (PL3), chest wall (including superior sulcus tumors), phrenic nerve, parietal pericardium; or separate tumor nodule(s) in the same lobe as the primary. T4: Tumor measuring more than 7 cm or tumor of any size invading one or more of the following: diaphragm, mediastinum, heart, great vessels, trachea, recurrent laryngeal nerve, esophagus, vertebral body, or carina; separate tumor nodule(s) in an ipsilateral lobe different from that of the primary. N2: Metastasis in ipsilateral mediastinal and/or subcarinal lymph node(s). N3: Metastasis in contralateral mediastinal, contralateral hilar, ipsilateral or contralateral scalene, or supraclavicular lymph node(s). M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4526724|Stage IIIC includes: (T3, N3, M0); (T4, N3, M0). T3: Tumor measuring more than 5 cm but 7 cm or less in greatest dimension or directly invading any of the following: parietal pleura (PL3), chest wall (including superior sulcus tumors), phrenic nerve, parietal pericardium; or separate tumor nodule(s) in the same lobe as the primary. T4: Tumor measuring more than 7 cm or tumor of any size invading one or more of the following: diaphragm, mediastinum, heart, great vessels, trachea, recurrent laryngeal nerve, esophagus, vertebral body, or carina; separate tumor nodule(s) in an ipsilateral lobe different from that of the primary. N3: Metastasis in contralateral mediastinal, contralateral hilar, ipsilateral or contralateral scalene, or supraclavicular lymph node(s). M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4526725|Stage IV includes: IVA: (Any T, Any N, M1a); (Any T, Any N, M1b); IVB: (Any T, Any N, M1c). M1a: Tumor with separate tumor nodule(s) in a contralateral lobe; tumor with pleural or pericardial nodules or malignant pleural or pericardial effusion. Most pleural (pericardial) effusions with lung cancer are a result of the tumor. In a few patients, however, multiple microscopic examinations of pleural (pericardial) fluid are negative for tumor, and the fluid is nonbloody and not an exudate. If these elements and clinical judgment dictate that the effusion is not related to the tumor, the effusion should be excluded as a staging descriptor. M1b: Tumor with single extrathoracic metastasis in a single organ (including involvement of a single nonregional node). M1c: Tumor with multiple extrathoracic metastases in a single organ or in multiple organs. (AJCC 8th ed.)|NCI|N|
C4526726|Stage IVA includes: (Any T, Any N, M1a); (Any T, Any N, M1b). M1a: Tumor with separate tumor nodule(s) in a contralateral lobe; tumor with pleural or pericardial nodules or malignant pleural or pericardial effusion. Most pleural (pericardial) effusions with lung cancer are a result of the tumor. In a few patients, however, multiple microscopic examinations of pleural (pericardial) fluid are negative for tumor, and the fluid is nonbloody and not an exudate. If these elements and clinical judgment dictate that the effusion is not related to the tumor, the effusion should be excluded as a staging descriptor. M1b: Tumor with single extrathoracic metastasis in a single organ (including involvement of a single nonregional node). (AJCC 8th ed.)|NCI|N|
C4526727|Stage IVB includes: Any T, Any N, M1c. M1c: Tumor with multiple extrathoracic metastases in a single organ or in multiple organs. (AJCC 8th ed.)|NCI|N|
C4526729|Erdheim-Chester disease that does not respond to treatment.|NCI|N|
C4526730|A term that refers to the staging of lung adenocarcinoma, following the rules of the TNM AJCC v7 classification system.|NCI|N|
C4526731|A term that refers to the staging of non-small cell lung carcinoma, following the rules of the TNM AJCC v7 classification system.|NCI|N|
C4526732|A term that refers to the staging of adenosquamous lung carcinoma, following the rules of the TNM AJCC v7 classification system.|NCI|N|
C4526733|A term that refers to the staging of large cell lung carcinoma, following the rules of the TNM AJCC v7 classification system.|NCI|N|
C4526734|A term that refers to the staging of squamous cell lung carcinoma, following the rules of the TNM AJCC v7 classification system.|NCI|N|
C4526735|A term that refers to the staging of small cell lung carcinoma, following the rules of the TNM AJCC v7 classification system.|NCI|N|
C4526752|The reemergence of diffuse intrinsic pontine glioma after a period of remission.|NCI|N|
C4526753|Diffuse intrinsic pontine glioma that is resistant to treatment.|NCI|N|
C4526777|A condition that is relevant to either disease states or models of disease in gerbils (Subfamily Gerbillinae.)|NCI|N|
C4526778|A subjective score of 8 on a visual analogue scale that ranges from 0: No Pain to 10: Excruciating.|NCI|N|
C4526779|A condition that is relevant to either disease states or models of disease in fish.|NCI|N|
C4526780|A paraganglioma-pheochromocytoma that is not associated with a clear genetic mutation.|NCI|N|
C4526781|A finding about one or more characteristics of bone cancer, following the rules of the TNM AJCC v8 classification system. This classification system applies to osteosarcoma, chondrosarcoma, Ewing sarcoma, spindle cell sarcoma, hemangioendothelioma, angiosarcoma, fibrosarcoma/myofibroid sarcoma, chordoma, adamantinoma, and other cancers arising in the bone. It does not apply to primary malignant lymphoma of the bone and multiple myeloma. (from AJCC 8th Ed.)|NCI|N|
C4526782|A clinical finding about one or more characteristics of bone cancer, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4526783|A clinical finding about one or more characteristics of bone cancer, following the rules of the TNM AJCC v8 classification system as they pertain to distant metastases.|NCI|N|
C4526784|Bone cancer without distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4526785|Bone cancer with distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4526786|Bone cancer with metastasis in the lung. (from AJCC 8th Ed.)|NCI|N|
C4526788|Bone cancer with metastasis in the bone or other distant sites. (from AJCC 8th Ed.)|NCI|N|
C4526789|A pathologic finding about one or more characteristics of bone cancer, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4526790|A pathologic finding about one or more characteristics of bone cancer, following the rules of the TNM AJCC v8 classification system as they pertain to distant metastases.|NCI|N|
C4526791|Bone cancer with distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4526792|Bone cancer with metastasis in the lung. (from AJCC 8th Ed.)|NCI|N|
C4526793|Bone cancer with metastasis in the bone or other distant sites. (from AJCC 8th Ed.)|NCI|N|
C4526795|A pathologic finding about one or more characteristics of bone cancer, following the rules of the TNM AJCC v8 classification system as they pertain to staging of the primary tumor.|NCI|N|
C4526796|A pathologic finding about one or more characteristics of appendicular skeleton, trunk, skull, and facial bones cancer, following the rules of the TNM AJCC v8 classification system as they pertain to staging of the primary tumor.|NCI|N|
C4526797|Appendicular skeleton, trunk, skull, and facial bones cancer in which the primary tumor cannot be assessed. (from AJCC 8th Ed.)|NCI|N|
C4526798|Appendicular skeleton, trunk, skull, and facial bones cancer without evidence of primary tumor. (from AJCC 8th Ed.)|NCI|N|
C4526799|Appendicular skeleton, trunk, skull, and facial bones cancer with tumor measuring 8 cm or less in greatest dimension. (from AJCC 8th Ed.)|NCI|N|
C4526800|Appendicular skeleton, trunk, skull, and facial bones cancer with tumor measuring more than 8 cm in greatest dimension. (from AJCC 8th Ed.)|NCI|N|
C4526801|Appendicular skeleton, trunk, skull, and facial bones cancer with discontinuous tumors in the primary bone site. (from AJCC 8th Ed.)|NCI|N|
C4526802|A pathologic finding about one or more characteristics of spine cancer, following the rules of the TNM AJCC v8 classification system as they pertain to staging of the primary tumor.|NCI|N|
C4526803|Spine cancer in which the primary tumor cannot be assessed. (from AJCC 8th Ed.)|NCI|N|
C4526804|Spine cancer without evidence of primary tumor. (from AJCC 8th Ed.)|NCI|N|
C4526805|Spine cancer with tumor confined to one vertebral segment or two adjacent vertebral segments. (from AJCC 8th Ed.)|NCI|N|
C4526806|Spine cancer with tumor confined to three adjacent vertebral segments. (from AJCC 8th Ed.)|NCI|N|
C4526807|Spine cancer with tumor confined to four or more adjacent vertebral segments, or any nonadjacent vertebral segments. (from AJCC 8th Ed.)|NCI|N|
C4526808|Spine cancer with tumor extending into the spinal canal or great vessels. (from AJCC 8th Ed.)|NCI|N|
C4526809|Spine cancer with tumor extending into the spinal canal. (from AJCC 8th Ed.)|NCI|N|
C4526810|Spine cancer with evidence of gross vascular invasion or tumor thrombus in the great vessels. (from AJCC 8th Ed.)|NCI|N|
C4526811|A pathologic finding about one or more characteristics of pelvis cancer, following the rules of the TNM AJCC v8 classification system as they pertain to staging of the primary tumor.|NCI|N|
C4526812|Pelvis cancer without evidence of primary tumor. (from AJCC 8th Ed.)|NCI|N|
C4526813|Pelvis cancer with tumor confined to one pelvic segment with no extraosseous extension. (from AJCC 8th Ed.)|NCI|N|
C4526814|Pelvis cancer with tumor confined to one pelvic segment with no extraosseous extension and measuring 8 cm or less in greatest dimension. (from AJCC 8th Ed.)|NCI|N|
C4526815|Pelvis cancer with tumor confined to one pelvic segment with no extraosseous extension and measuring more than 8 cm in greatest dimension. (from AJCC 8th Ed.)|NCI|N|
C4526816|Pelvis cancer with tumor confined to one pelvic segment with extraosseous extension or two segments without extraosseous extension. (from AJCC 8th Ed.)|NCI|N|
C4526817|Pelvis cancer with tumor confined to one pelvic segment with extraosseous extension or two segments without extraosseous extension and measuring 8 cm or less in greatest dimension. (from AJCC 8th Ed.)|NCI|N|
C4526818|Pelvis cancer with tumor confined to one pelvic segment with extraosseous extension or two segments without extraosseous extension and measuring more than 8 cm in greatest dimension. (from AJCC 8th Ed.)|NCI|N|
C4526819|Pelvis cancer with tumor spanning two pelvic segments with extraosseous extension. (from AJCC 8th Ed.)|NCI|N|
C4526820|Pelvis cancer with tumor spanning two pelvic segments with extraosseous extension and measuring 8 cm or less in greatest dimension. (from AJCC 8th Ed.)|NCI|N|
C4526821|Pelvis cancer with tumor spanning two pelvic segments with extraosseous extension and measuring more than 8 cm in greatest dimension. (from AJCC 8th Ed.)|NCI|N|
C4526822|Pelvis cancer with tumor spanning three pelvic segments or crossing the sacroiliac joint. (from AJCC 8th Ed.)|NCI|N|
C4526823|Pelvis cancer with tumor involving the sacroiliac joint and extending medial to the sacral neuroforamen. (from AJCC 8th Ed.)|NCI|N|
C4526824|Pelvis cancer with tumor encasement of external iliac vessels or presence of gross tumor thrombus in major pelvic vessels. (from AJCC 8th Ed.)|NCI|N|
C4526825|A pathologic finding about one or more characteristics of bone cancer, following the rules of the TNM AJCC v8 classification system as they pertain to staging of regional lymph nodes.|NCI|N|
C4526826|Bone cancer in which the regional lymph nodes cannot be assessed. (from AJCC 8th Ed.)|NCI|N|
C4526827|Bone cancer without regional lymph node metastasis. (from AJCC 8th Ed.)|NCI|N|
C4526828|Bone cancer with regional lymph node metastasis. (from AJCC 8th Ed.)|NCI|N|
C4526829|A term that refers to the staging of bone cancer, following the rules of the TNM AJCC v7 classification system.|NCI|N|
C4526831|A term that refers to the staging of appendicular skeleton, trunk, skull, and facial bones cancer, following the rules of the TNM AJCC v8 classification system. This staging system applies to osteosarcoma, chondrosarcoma, Ewing sarcoma, spindle cell sarcoma, hemangioendothelioma, angiosarcoma, fibrosarcoma/myofibroid sarcoma, chordoma, adamantinoma, and other cancers arising in the bone. It does not apply to primary malignant lymphoma of the bone and multiple myeloma. There are no AJCC prognostic stage groupings for spine and pelvis. (from AJCC 8th Ed.)|NCI|N|
C4526832|A change in the nucleotide sequence of the SMARCB1 gene.|NCI|N|
C4526833|The histological transformation of lung adenocarcinoma to small cell lung carcinoma. This occurs via acquisition of a T790M mutation in the EGFR gene in response to treatment with tyrosine kinase inhibitors and results in resistance to first-line tyrosine kinase inhibitors.|NCI|N|
C4526834|A molecular abnormality indicating rearrangement of the NFKB2 gene.|NCI|N|
C4526838|A change in the nucleotide sequence of the ESR1 gene.|NCI|N|
C4526839|A finding indicating elevated concentrations of human chorionic gonadotropin in a sample.|NCI|N|
C4526840|A term that refers to the staging of bone sarcoma, following the rules of the TNM AJCC v7 classification system.|NCI|N|
C4526841|A term that refers to the staging of osteosarcoma, following the rules of the TNM AJCC v7 classification system.|NCI|N|
C4526842|A point mutation in the FLT3 gene that encodes an amino acid substitution in the receptor-type tyrosine-protein kinase FLT3 protein.|NCI|N|
C4526843|A point mutation in the KIT gene that encodes an amino acid substitution in the mast/stem cell growth factor receptor Kit protein.|NCI|N|
C4526844|A point mutation in a gene that is a member of the RAS gene family that encodes an amino acid substitution in a RAS family protein.|NCI|N|
C4526845|A point mutation in a gene that is a member of the RAF gene family that encodes an amino acid substitution in a RAF family protein.|NCI|N|
C4526846|A point mutation in a gene that is a member of the MAPK gene family that encodes an amino acid substitution in a MAPK family protein.|NCI|N|
C4526847|A point mutation in a gene that is a member of the MAP2K gene family that encodes an amino acid substitution in a MAP2K family protein.|NCI|N|
C4526848|A point mutation in a gene that is a member of the STAT gene family that encodes an amino acid substitution in a STAT family protein.|NCI|N|
C4526849|A point mutation in a gene that is a member of the JAK gene family that encodes an amino acid substitution in a JAK family protein.|NCI|N|
C4526850|A point mutation in a gene that is a member of the VEGFR gene family that encodes an amino acid substitution in a VEGFR family protein.|NCI|N|
C4526851|A point mutation in a gene that is a member of the PDGFR gene family that encodes an amino acid substitution in a PDGFR family protein.|NCI|N|
C4526852|A change in the nucleotide sequence of a gene that is a member of the NOTCH gene family.|NCI|N|
C4526853|A change in the nucleotide sequence of the CBL gene.|NCI|N|
C4526855|A change in the nucleotide sequence of the JAK3 gene.|NCI|N|
C4526857|The reemergence of cervical squamous cell carcinoma after a period of remission.|NCI|N|
C4526858|The reemergence of cervical adenosquamous carcinoma after a period of remission.|NCI|N|
C4526859|The reemergence of cervical adenocarcinoma after a period of remission.|NCI|N|
C4526860|A finding about one or more characteristics of soft tissue sarcoma, following the rules of the TNM AJCC v8 classification system. This classification system applies to soft tissue sarcomas that arise in the following areas: head and neck, trunk and extremities, gastrointestinal tract, genitourinary tract, viscera and retroperitoneum, gynecologic sites, breast, lung, pleura, mediastinum, and other unusual histologies and sites. It does not apply to desmoid tumor/deep fibromatosis (no AJCC staging system available) and Kaposi sarcoma (no AJCC staging system available; AIDS Clinical Trials Group system TIS (tumor, immune system, systemic illness) staging may be used). (from AJCC 8th Ed.)|NCI|N|
C4526861|A finding about one or more characteristics of soft tissue sarcoma of the head and neck, following the rules of the TNM AJCC v8 classification system. This classification system applies to soft tissue sarcomas of the head and neck except angiosarcoma, rhabdomyosarcoma of the embryonal and alveolar subtype, Kaposi sarcoma, and dermatofibrosarcoma protuberans, which do not share the same behavior and natural history. This is a new classification system that needs data collection before defining a stage grouping for head and neck sarcomas. Sarcomas of the orbit are staged according to the orbital sarcoma classification system. (from AJCC 8th Ed.)|NCI|N|
C4526862|A clinical finding about one or more characteristics of soft tissue sarcoma of the head and neck, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4526863|A clinical finding about one or more characteristics of soft tissue sarcoma of the head and neck, following the rules of the TNM AJCC v8 classification system as they pertain to distant metastases.|NCI|N|
C4526864|Soft tissue sarcoma of the head and neck without distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4526865|Soft tissue sarcoma of the head and neck with distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4526866|A pathologic finding about one or more characteristics of soft tissue sarcoma of the head and neck, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4526867|A pathologic finding about one or more characteristics of soft tissue sarcoma of the head and neck, following the rules of the TNM AJCC v8 classification system as they pertain to distant metastases.|NCI|N|
C4526868|Soft tissue sarcoma of the head and neck with distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4526869|A pathologic finding about one or more characteristics of soft tissue sarcoma of the head and neck, following the rules of the TNM AJCC v8 classification system as they pertain to staging of the primary tumor.|NCI|N|
C4526870|Soft tissue sarcoma of the head and neck in which the primary tumor cannot be assessed. (from AJCC 8th Ed.)|NCI|N|
C4526871|Soft tissue sarcoma of the head and neck with tumor measuring 2 cm or less in greatest dimension. (from AJCC 8th Ed.)|NCI|N|
C4526872|Soft tissue sarcoma of the head and neck with tumor measuring more than 2 cm but 4 cm or less in greatest dimension. (from AJCC 8th Ed.)|NCI|N|
C4526873|Soft tissue sarcoma of the head and neck with tumor measuring more than 4 cm in greatest dimension. (from AJCC 8th Ed.)|NCI|N|
C4526874|Soft tissue sarcoma of the head and neck with tumor invading adjoining structures. (from AJCC 8th Ed.)|NCI|N|
C4526875|Soft tissue sarcoma of the head and neck with tumor invading the orbit, skull base/dura, central compartment viscera, facial skeleton, or pterygoid muscles. (from AJCC 8th Ed.)|NCI|N|
C4526876|Soft tissue sarcoma of the head and neck with tumor invading the brain parenchyma, prevertebral muscle, central nervous system via perineural spread, or carotid artery encasement. (from AJCC 8th Ed.)|NCI|N|
C4526877|A pathologic finding about one or more characteristics of soft tissue sarcoma of the head and neck, following the rules of the TNM AJCC v8 classification system as they pertain to staging of regional lymph nodes.|NCI|N|
C4526878|Soft tissue sarcoma of the head and neck without regional lymph node metastases or unknown lymph node status. (from AJCC 8th Ed.)|NCI|N|
C4526879|Soft tissue sarcoma of the head and neck with regional lymph node metastasis. (from AJCC 8th Ed.)|NCI|N|
C4526880|A finding about one or more characteristics of soft tissue sarcoma of the trunk and extremities, following the rules of the TNM AJCC v8 classification system. (from AJCC 8th Ed.)|NCI|N|
C4526881|A clinical finding about one or more characteristics of soft tissue sarcoma of the trunk and extremities, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4526882|A clinical finding about one or more characteristics of soft tissue sarcoma of the trunk and extremities, following the rules of the TNM AJCC v8 classification system as they pertain to distant metastases.|NCI|N|
C4526883|Soft tissue sarcoma of the trunk and extremities with distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4526884|A pathologic finding about one or more characteristics of soft tissue sarcoma of the trunk and extremities, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4526885|A pathologic finding about one or more characteristics of soft tissue sarcoma of the trunk and extremities, following the rules of the TNM AJCC v8 classification system as they pertain to distant metastases.|NCI|N|
C4526886|Soft tissue sarcoma of the trunk and extremities with distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4526887|A pathologic finding about one or more characteristics of soft tissue sarcoma of the trunk and extremities, following the rules of the TNM AJCC v8 classification system as they pertain to staging of the primary tumor.|NCI|N|
C4526888|Soft tissue sarcoma of the trunk and extremities in which the primary tumor cannot be assessed. (from AJCC 8th Ed.)|NCI|N|
C4526889|Soft tissue sarcoma of the trunk and extremities with no evidence of primary tumor. (from AJCC 8th Ed.)|NCI|N|
C4526890|Soft tissue sarcoma of the trunk and extremities with tumor measuring 5 cm or less in greatest dimension. (from AJCC 8th Ed.)|NCI|N|
C4526891|Soft tissue sarcoma of the trunk and extremities with tumor measuring more than 5 cm and less than or equal to 10 cm in greatest dimension. (from AJCC 8th Ed.)|NCI|N|
C4526892|Soft tissue sarcoma of the trunk and extremities with tumor measuring more than 10 cm and less than or equal to 15 cm in greatest dimension. (from AJCC 8th Ed.)|NCI|N|
C4526893|Soft tissue sarcoma of the trunk and extremities with tumor measuring more than 15 cm in greatest dimension. (from AJCC 8th Ed.)|NCI|N|
C4526894|A pathologic finding about one or more characteristics of soft tissue sarcoma of the trunk and extremities, following the rules of the TNM AJCC v8 classification system as they pertain to staging of regional lymph nodes.|NCI|N|
C4526895|Soft tissue sarcoma of the trunk and extremities without regional lymph node metastasis or unknown lymph node status. (from AJCC 8th Ed.)|NCI|N|
C4526896|Soft tissue sarcoma of the trunk and extremities with regional lymph node metastasis. (from AJCC 8th Ed.)|NCI|N|
C4526897|A term that refers to the staging of soft tissue sarcoma, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4526898|A term that refers to the staging of soft tissue sarcoma of the trunk and extremities, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4526900|Stage I includes: IA: (T1, N0, M0, G1, GX); IB: (T2, T3, T4, N0, M0, G1, GX). T1: Tumor measuring 5 cm or less in greatest dimension. T2: Tumor measuring more than 5 cm and less than or equal to 10 cm in greatest dimension. T3: Tumor measuring more than 10 cm and less than or equal to 15 cm in greatest dimension. T4: Tumor measuring more than 15 cm in greatest dimension. N0: No regional lymph node metastasis or unknown lymph node status. M0: No distant metastasis. GX: Grade cannot be assessed. G1: Total differentiation, mitotic count and necrosis score of 2 or 3. (AJCC 8th ed.)|NCI|N|
C4526901|Stage IA includes: T1, N0, M0, G1, GX. T1: Tumor measuring 5 cm or less in greatest dimension. N0: No regional lymph node metastasis or unknown lymph node status. M0: No distant metastasis. GX: Grade cannot be assessed. G1: Total differentiation, mitotic count and necrosis score of 2 or 3. (AJCC 8th ed.)|NCI|N|
C4526902|Stage IB includes: T2, T3, T4, N0, M0, G1, GX. T2: Tumor measuring more than 5 cm and less than or equal to 10 cm in greatest dimension. T3: Tumor measuring more than 10 cm and less than or equal to 15 cm in greatest dimension. T4: Tumor measuring more than 15 cm in greatest dimension. N0: No regional lymph node metastasis or unknown lymph node status. M0: No distant metastasis. GX: Grade cannot be assessed. G1: Total differentiation, mitotic count and necrosis score of 2 or 3. (AJCC 8th ed.)|NCI|N|
C4526903|Stage II includes: T1, N0, M0, G2, G3. T1: Tumor measuring 5 cm or less in greatest dimension. N0: No regional lymph node metastasis or unknown lymph node status. M0: No distant metastasis. G2: Total differentiation, mitotic count and necrosis score of 4 or 5. G3: Total differentiation, mitotic count and necrosis score of 6, 7, or 8. (AJCC 8th ed.)|NCI|N|
C4526904|Stage III includes: IIIA: (T2, N0, M0, G2, G3); IIIB: (T3, T4, N0, M0, G2, G3). T2: Tumor measuring more than 5 cm and less than or equal to 10 cm in greatest dimension. T3: Tumor measuring more than 10 cm and less than or equal to 15 cm in greatest dimension. T4: Tumor measuring more than 15 cm in greatest dimension. N0: No regional lymph node metastasis or unknown lymph node status. M0: No distant metastasis. G2: Total differentiation, mitotic count and necrosis score of 4 or 5. G3: Total differentiation, mitotic count and necrosis score of 6, 7, or 8. (AJCC 8th ed.)|NCI|N|
C4526905|Stage IIIA includes: T2, N0, M0, G2, G3. T2: Tumor measuring more than 5 cm and less than or equal to 10 cm in greatest dimension. N0: No regional lymph node metastasis or unknown lymph node status. M0: No distant metastasis. G2: Total differentiation, mitotic count and necrosis score of 4 or 5. G3: Total differentiation, mitotic count and necrosis score of 6, 7, or 8. (AJCC 8th ed.)|NCI|N|
C4526906|Stage IIIB includes: T3, T4, N0, M0, G2, G3. T3: Tumor measuring more than 10 cm and less than or equal to 15 cm in greatest dimension. T4: Tumor measuring more than 15 cm in greatest dimension. N0: No regional lymph node metastasis or unknown lymph node status. M0: No distant metastasis. G2: Total differentiation, mitotic count and necrosis score of 4 or 5. G3: Total differentiation, mitotic count and necrosis score of 6, 7, or 8. (AJCC 8th ed.)|NCI|N|
C4526907|Stage IV includes: (Any T, N1, M0, Any G); (Any T, Any N, M1, Any G). N1: Regional lymph node metastasis. M0: No distant metastasis. M1: Distant metastasis. (AJCC 8th ed.)|NCI|N|
C4526908|A term that refers to the staging of soft tissue sarcoma, following the rules of the TNM AJCC v7 classification system.|NCI|N|
C4526909|A term that refers to the staging of uterine corpus sarcoma, following the rules of the TNM AJCC v7 classification system.|NCI|N|
C4526910|A well-differentiated adenocarcinoma located in the lung periphery. It resembles colorectal adenocarcinoma with acinar and/or cribriform architecture and papillotubular structures.|NCI|N|
C4526912|A squamous cell lung carcinoma characterized by the absence of keratinization, pearl formation, and intercellular bridges.|NCI|N|
C4526913|A microscopic finding indicating the presence of intercellular bridges connecting adjacent cells in a tissue sample.|NCI|N|
C4526914|Lung adenocarcinoma in situ characterized by the presence of type II pneumocyte and/or Clara cell differentiation. Almost all cases of lung adenocarcinoma in situ are non-mucinous.|NCI|N|
C4526915|A very rare lung adenocarcinoma in situ variant characterized by the presence of tall columnar cells with basal nuclei and abundant cytoplasmic mucin.|NCI|N|
C4526917|A preinvasive bronchial neoplastic lesion affecting the squamous epithelium. It is characterized by the absence of progression of maturation from base to luminal surface, basilar zone expansion with cellular crowding throughout the epithelium, absence of the intermediate zone, and surface flattening confined to the most superficial cells. The nuclear-to-cytoplasmic ratio is often high and variable, the chromatin is coarse and uneven, and mitotic figures are present through full thickness. The cell size may be markedly increased. Anisocytosis and pleomorphism may be present. (Adapted from WHO, 2015)|NCI|N|
C4526920|A finding about one or more characteristics of soft tissue sarcoma of the abdomen and thoracic visceral organs, following the rules of the TNM AJCC v8 classification system. This classification system does not apply to desmoplastic small round cell tumor, epithelioid hemangioendothelioma, inflammatory myofibroblastic tumor, perivascular epithelioid cell tumor (PEComa), solitary fibrous tumor, gastrointestinal stromal tumor (GIST), uterine leiomyosarcoma, and retroperitoneal leiomyosarcoma. This is a new classification system and there is no recommended prognostic stage grouping at this time. (from AJCC 8th Ed.)|NCI|N|
C4526921|A clinical finding about one or more characteristics of soft tissue sarcoma of the abdomen and thoracic visceral organs, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4526922|A clinical finding about one or more characteristics of soft tissue sarcoma of the abdomen and thoracic visceral organs, following the rules of the TNM AJCC v8 classification system as they pertain to distant metastases.|NCI|N|
C4526923|Soft tissue sarcoma of the abdomen and thoracic visceral organs without distant metastases. (from AJCC 8th Ed.)|NCI|N|
C4526924|Soft tissue sarcoma of the abdomen and thoracic visceral organs with distant metastases. (from AJCC 8th Ed.)|NCI|N|
C4526925|A pathologic finding about one or more characteristics of soft tissue sarcoma of the abdomen and thoracic visceral organs, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4526926|A pathologic finding about one or more characteristics of soft tissue sarcoma of the abdomen and thoracic visceral organs, following the rules of the TNM AJCC v8 classification system as they pertain to distant metastases.|NCI|N|
C4526927|Soft tissue sarcoma of the abdomen and thoracic visceral organs with distant metastases. (from AJCC 8th Ed.)|NCI|N|
C4526928|A pathologic finding about one or more characteristics of soft tissue sarcoma of the abdomen and thoracic visceral organs, following the rules of the TNM AJCC v8 classification system as they pertain to staging of the primary tumor.|NCI|N|
C4526929|Soft tissue sarcoma of the abdomen and thoracic visceral organs in which the primary tumor cannot be assessed. (from AJCC 8th Ed.)|NCI|N|
C4526930|Soft tissue sarcoma of the abdomen and thoracic visceral organs, organ confined. (from AJCC 8th Ed.)|NCI|N|
C4526931|Soft tissue sarcoma of the abdomen and thoracic visceral organs with tumor extending into tissue beyond organ. (from AJCC 8th Ed.)|NCI|N|
C4526932|Soft tissue sarcoma of the abdomen and thoracic visceral organs with tumor invading serosa or visceral peritoneum. (from AJCC 8th Ed.)|NCI|N|
C4526933|Soft tissue sarcoma of the abdomen and thoracic visceral organs with tumor extending beyond serosa (mesentery). (from AJCC 8th Ed.)|NCI|N|
C4526934|Soft tissue sarcoma of the abdomen and thoracic visceral organs with tumor invading another organ. (from AJCC 8th Ed.)|NCI|N|
C4526935|Soft tissue sarcoma of the abdomen and thoracic visceral organs with multifocal involvement. (from AJCC 8th Ed.)|NCI|N|
C4526936|Soft tissue sarcoma of the abdomen and thoracic visceral organs with multifocal involvement (two sites). (from AJCC 8th Ed.)|NCI|N|
C4526937|Soft tissue sarcoma of the abdomen and thoracic visceral organs with multifocal involvement (three to five sites). (from AJCC 8th Ed.)|NCI|N|
C4526938|Soft tissue sarcoma of the abdomen and thoracic visceral organs with multifocal involvement (more than five sites). (from AJCC 8th Ed.)|NCI|N|
C4526939|A pathologic finding about one or more characteristics of soft tissue sarcoma of the abdomen and thoracic visceral organs, following the rules of the TNM AJCC v8 classification system as they pertain to staging of regional lymph nodes.|NCI|N|
C4526940|Soft tissue sarcoma of the abdomen and thoracic visceral organs without lymph node involvement or unknown lymph node status. (from AJCC 8th Ed.)|NCI|N|
C4526941|Soft tissue sarcoma of the abdomen and thoracic visceral organs with lymph node involvement. (from AJCC 8th Ed.)|NCI|N|
C4526944|A finding about one or more characteristics of gastrointestinal stromal tumor (GIST), following the rules of the TNM AJCC v8 classification system. This classification system does not apply to pediatric GIST, familial GIST (germline mutant KIT or PDGFRA), or syndromic GIST (no AJCC staging system available). (from AJCC 8th Ed.)|NCI|N|
C4526945|A clinical finding about one or more characteristics of gastrointestinal stromal tumor, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4526946|A clinical finding about one or more characteristics of gastrointestinal stromal tumor, following the rules of the TNM AJCC v8 classification system as they pertain to distant metastases.|NCI|N|
C4526947|Gastrointestinal stromal tumor without distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4526948|Gastrointestinal stromal tumor with distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4526949|A pathologic finding about one or more characteristics of gastrointestinal stromal tumor, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4526950|A pathologic finding about one or more characteristics of gastrointestinal stromal tumor, following the rules of the TNM AJCC v8 classification system as they pertain to distant metastases.|NCI|N|
C4526951|Gastrointestinal stromal tumor with distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4526952|A pathologic finding about one or more characteristics of gastrointestinal stromal tumor, following the rules of the TNM AJCC v8 classification system as they pertain to staging of the primary tumor.|NCI|N|
C4526953|Gastrointestinal stromal tumor in which the primary tumor cannot be assessed. (from AJCC 8th Ed.)|NCI|N|
C4526954|Gastrointestinal stromal tumor with no evidence of primary tumor. (from AJCC 8th Ed.)|NCI|N|
C4526955|Gastrointestinal stromal tumor measuring 2 cm or less. (from AJCC 8th Ed.)|NCI|N|
C4526956|Gastrointestinal stromal tumor measuring more than 2 cm but not more than 5 cm. (from AJCC 8th Ed.)|NCI|N|
C4526957|Gastrointestinal stromal tumor measuring more than 5 cm but not more than 10 cm. (from AJCC 8th Ed.)|NCI|N|
C4526958|Gastrointestinal stromal tumor measuring more than 10 cm in greatest dimension. (from AJCC 8th Ed.)|NCI|N|
C4526959|A pathologic finding about one or more characteristics of gastrointestinal stromal tumor, following the rules of the TNM AJCC v8 classification system as they pertain to staging of regional lymph nodes.|NCI|N|
C4526960|Gastrointestinal stromal tumor without regional lymph node metastasis or unknown lymph node status. (from AJCC 8th Ed.)|NCI|N|
C4526961|Gastrointestinal stromal tumor with regional lymph node metastasis. (from AJCC 8th Ed.)|NCI|N|
C4526962|A term that refers to the staging of gastrointestinal stromal tumor (GIST), following the rules of the TNM AJCC v8 classification system. This staging system does not apply to pediatric GIST, familial GIST (germline mutant KIT or PDGFRA), or syndromic GIST (no AJCC staging system available). (from AJCC 8th Ed.)|NCI|N|
C4526963|A term that refers to the staging of gastric and omental gastrointestinal stromal tumor (GIST), following the rules of the TNM AJCC v8 classification system. (from AJCC 8th Ed.)|NCI|N|
C4526964|A term that refers to the staging of small intestinal, esophageal, colorectal, mesenteric, and peritoneal gastrointestinal stromal tumor (GIST), following the rules of the TNM AJCC v8 classification system. (from AJCC 8th Ed.)|NCI|N|
C4526965|Stage I includes: IA: (T1 or T2, N0, M0, Low Mitotic Rate); IB: (T3, N0, M0, Low Mitotic Rate). T1: Tumor measuring 2 cm or less. T2: Tumor measuring more than 2 cm but not more than 5 cm. T3: Tumor measuring more than 5 cm but not more than 10 cm. N0: No regional lymph node metastasis or unknown lymph node status. M0: No distant metastasis. Low Mitotic Rate: Five or fewer mitoses per 5 square millimeters, or per 50 HPF. (AJCC 8th ed.)|NCI|N|
C4526966|Stage IA includes: T1 or T2, N0, M0, Low Mitotic Rate. T1: Tumor measuring 2 cm or less. T2: Tumor measuring more than 2 cm but not more than 5 cm. N0: No regional lymph node metastasis or unknown lymph node status. M0: No distant metastasis. Low Mitotic Rate: Five or fewer mitoses per 5 square millimeters, or per 50 HPF. (AJCC 8th ed.)|NCI|N|
C4526967|Stage IB includes: T3, N0, M0, Low Mitotic Rate. T3: Tumor measuring more than 5 cm but not more than 10 cm. N0: No regional lymph node metastasis or unknown lymph node status. M0: No distant metastasis. Low Mitotic Rate: Five or fewer mitoses per 5 square millimeters, or per 50 HPF. (AJCC 8th ed.)|NCI|N|
C4526968|Stage II includes: (T1, N0, M0, High Mitotic Rate); (T2, N0, M0, High Mitotic Rate); (T4, N0, M0, Low Mitotic Rate). T1: Tumor measuring 2 cm or less. T2: Tumor measuring more than 2 cm but not more than 5 cm. T4: Tumor measuring more than 10 cm in greatest dimension. N0: No regional lymph node metastasis or unknown lymph node status. M0: No distant metastasis. High Mitotic Rate: Over 5 mitoses per 5 square millimeters, or per 50 HPF. Low Mitotic Rate: Five or fewer mitoses per 5 square millimeters, or per 50 HPF. (AJCC 8th ed.)|NCI|N|
C4526969|Stage III includes: IIIA: (T3, N0, M0, High Mitotic Rate); IIIB: (T4, N0, M0, High Mitotic Rate). T3: Tumor measuring more than 5 cm but not more than 10 cm. T4: Tumor measuring more than 10 cm in greatest dimension. N0: No regional lymph node metastasis or unknown lymph node status. M0: No distant metastasis. High Mitotic Rate: Over 5 mitoses per 5 square millimeters, or per 50 HPF. (AJCC 8th ed.)|NCI|N|
C4526970|Stage IIIA includes: T3, N0, M0, High Mitotic Rate. T3: Tumor measuring more than 5 cm but not more than 10 cm. N0: No regional lymph node metastasis or unknown lymph node status. M0: No distant metastasis. High Mitotic Rate: Over 5 mitoses per 5 square millimeters, or per 50 HPF. (AJCC 8th ed.)|NCI|N|
C4526972|Stage IIIB includes: T4, N0, M0, High Mitotic Rate. T4: Tumor measuring more than 10 cm in greatest dimension. N0: No regional lymph node metastasis or unknown lymph node status. M0: No distant metastasis. High Mitotic Rate: Over 5 mitoses per 5 square millimeters, or per 50 HPF. (AJCC 8th ed.)|NCI|N|
C4526973|Stage IV includes: (Any T, N1, M0, Any Mitotic Rate); (Any T, Any N, M1, Any Mitotic Rate). N1: Regional lymph node metastasis. M0: No distant metastasis. M1: Distant metastasis. (AJCC 8th ed.)|NCI|N|
C4526975|Stage I includes: T1 or T2, N0, M0, Low Mitotic Rate. T1: Tumor measuring 2 cm or less. T2: Tumor measuring more than 2 cm but not more than 5 cm. N0: No regional lymph node metastasis or unknown lymph node status. M0: No distant metastasis. Low Mitotic Rate: Five or fewer mitoses per 5 square millimeters, or per 50 HPF. (AJCC 8th ed.)|NCI|N|
C4526976|Stage II includes: T3, N0, M0, Low Mitotic Rate. T3: Tumor measuring more than 5 cm but not more than 10 cm. N0: No regional lymph node metastasis or unknown lymph node status. M0: No distant metastasis. Low Mitotic Rate: Five or fewer mitoses per 5 square millimeters, or per 50 HPF. (AJCC 8th ed.)|NCI|N|
C4526978|Stage III includes: IIIA: (T1, N0, M0, High Mitotic Rate); (T4, N0, M0, Low Mitotic Rate); IIIB: (T2, N0, M0, High Mitotic Rate); (T3, N0, M0, High Mitotic Rate); (T4, N0, M0, High Mitotic Rate). T1: Tumor measuring 2 cm or less. T2: Tumor measuring more than 2 cm but not more than 5 cm. T3: Tumor measuring more than 5 cm but not more than 10 cm. T4: Tumor measuring more than 10 cm in greatest dimension. N0: No regional lymph node metastasis or unknown lymph node status. M0: No distant metastasis. High Mitotic Rate: Over 5 mitoses per 5 square millimeters, or per 50 HPF. Low Mitotic Rate: Five or fewer mitoses per 5 square millimeters, or per 50 HPF. (AJCC 8th ed.)|NCI|N|
C4526979|Stage IIIA includes: (T1, N0, M0, High Mitotic Rate); (T4, N0, M0, Low Mitotic Rate). T1: Tumor measuring 2 cm or less. T4: Tumor measuring more than 10 cm in greatest dimension. N0: No regional lymph node metastasis or unknown lymph node status. M0: No distant metastasis. High Mitotic Rate: Over 5 mitoses per 5 square millimeters, or per 50 HPF. Low Mitotic Rate: Five or fewer mitoses per 5 square millimeters, or per 50 HPF. (AJCC 8th ed.)|NCI|N|
C4526980|Stage IIIB includes: (T2, N0, M0, High Mitotic Rate); (T3, N0, M0, High Mitotic Rate); (T4, N0, M0, High Mitotic Rate). T2: Tumor measuring more than 2 cm but not more than 5 cm. T3: Tumor measuring more than 5 cm but not more than 10 cm. T4: Tumor measuring more than 10 cm in greatest dimension. N0: No regional lymph node metastasis or unknown lymph node status. M0: No distant metastasis. High Mitotic Rate: Over 5 mitoses per 5 square millimeters, or per 50 HPF. (AJCC 8th ed.)|NCI|N|
C4526981|Stage IV includes: (Any T, N1, M0, Any Mitotic Rate); (Any T, Any N, M1, Any Mitotic Rate). N1: Regional lymph node metastasis. M0: No distant metastasis. M1: Distant metastasis. (AJCC 8th ed.)|NCI|N|
C4526985|A finding about one or more characteristics of soft tissue sarcoma of the retroperitoneum, following the rules of the TNM AJCC v8 classification system. This classification system applies to common sarcomas in the retroperitoneum. (from AJCC 8th Ed.)|NCI|N|
C4526986|A clinical finding about one or more characteristics of soft tissue sarcoma of the retroperitoneum, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4526987|A clinical finding about one or more characteristics of soft tissue sarcoma of the retroperitoneum, following the rules of the TNM AJCC v8 classification system as they pertain to distant metastases.|NCI|N|
C4526988|Soft tissue sarcoma of the retroperitoneum without distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4526989|Soft tissue sarcoma of the retroperitoneum with distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4526990|A pathologic finding about one or more characteristics of soft tissue sarcoma of the retroperitoneum, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4526991|A pathologic finding about one or more characteristics of soft tissue sarcoma of the retroperitoneum, following the rules of the TNM AJCC v8 classification system as they pertain to distant metastases.|NCI|N|
C4526992|Soft tissue sarcoma of the retroperitoneum with distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4526993|A pathologic finding about one or more characteristics of soft tissue sarcoma of the retroperitoneum, following the rules of the TNM AJCC v8 classification system as they pertain to staging of the primary tumor.|NCI|N|
C4526994|Soft tissue sarcoma of the retroperitoneum in which the primary tumor cannot be assessed. (from AJCC 8th Ed.)|NCI|N|
C4526995|Soft tissue sarcoma of the retroperitoneum with no evidence of primary tumor. (from AJCC 8th Ed.)|NCI|N|
C4526996|Soft tissue sarcoma of the retroperitoneum measuring 5 cm or less in greatest dimension. (from AJCC 8th Ed.)|NCI|N|
C4526997|Soft tissue sarcoma of the retroperitoneum measuring more than 5 cm and less than or equal to 10 cm in greatest dimension. (from AJCC 8th Ed.)|NCI|N|
C4526998|Soft tissue sarcoma of the retroperitoneum measuring more than 10 cm and less than or equal to 15 cm in greatest dimension. (from AJCC 8th Ed.)|NCI|N|
C4526999|Soft tissue sarcoma of the retroperitoneum measuring more than 15 cm in greatest dimension. (from AJCC 8th Ed.)|NCI|N|
C4527000|A pathologic finding about one or more characteristics of soft tissue sarcoma of the retroperitoneum, following the rules of the TNM AJCC v8 classification system as they pertain to staging of regional lymph nodes.|NCI|N|
C4527001|Soft tissue sarcoma of the retroperitoneum without regional lymph node metastasis or unknown lymph node status. (from AJCC 8th Ed.)|NCI|N|
C4527002|Soft tissue sarcoma of the retroperitoneum with regional lymph node metastasis. (from AJCC 8th Ed.)|NCI|N|
C4527003|A term that refers to the staging of retroperitoneal soft tissue sarcoma, following the rules of the TNM AJCC v8 classification system. This staging system applies to common sarcomas in the retroperitoneum. (from AJCC 8th Ed.)|NCI|N|
C4527004|Stage I includes: IA: (T1, N0, M0, G1, GX); IB: (T2, T3, T4, N0, M0, G1, GX). T1: Tumor measuring 5 cm or less in greatest dimension. T2: Tumor measuring more than 5 cm and less than or equal to 10 cm in greatest dimension. T3: Tumor measuring more than 10 cm and less than or equal to 15 cm in greatest dimension. T4: Tumor measuring more than 15 cm in greatest dimension. N0: No regional lymph node metastasis or unknown lymph node status. M0: No distant metastasis. GX: Grade cannot be assessed. G1: Total differentiation, mitotic count and necrosis score of 2 or 3. (AJCC 8th ed.)|NCI|N|
C4527005|Stage IA includes: T1, N0, M0, G1, GX. T1: Tumor measuring 5 cm or less in greatest dimension. N0: No regional lymph node metastasis or unknown lymph node status. M0: No distant metastasis. GX: Grade cannot be assessed. G1: Total differentiation, mitotic count and necrosis score of 2 or 3. (AJCC 8th ed.)|NCI|N|
C4527006|Stage IB includes: T2, T3, T4, N0, M0, G1, GX. T2: Tumor measuring more than 5 cm and less than or equal to 10 cm in greatest dimension. T3: Tumor measuring more than 10 cm and less than or equal to 15 cm in greatest dimension. T4: Tumor measuring more than 15 cm in greatest dimension. N0: No regional lymph node metastasis or unknown lymph node status. M0: No distant metastasis. GX: Grade cannot be assessed. G1: Total differentiation, mitotic count and necrosis score of 2 or 3. (AJCC 8th ed.)|NCI|N|
C4527007|Stage II includes: T1, N0, M0, G2, G3. T1: Tumor measuring 5 cm or less in greatest dimension. N0: No regional lymph node metastasis or unknown lymph node status. M0: No distant metastasis. G2: Total differentiation, mitotic count and necrosis score of 4 or 5. G3: Total differentiation, mitotic count and necrosis score of 6, 7, or 8. (AJCC 8th ed.)|NCI|N|
C4527008|Stage III includes: IIIA: (T2, N0, M0, G2, G3); IIIB: (T3, T4, N0, M0, G2, G3); (Any T, N1, M0, Any G). T2: Tumor measuring more than 5 cm and less than or equal to 10 cm in greatest dimension. T3: Tumor measuring more than 10 cm and less than or equal to 15 cm in greatest dimension. T4: Tumor measuring more than 15 cm in greatest dimension. N0: No regional lymph node metastasis or unknown lymph node status. N1: Regional lymph node metastasis. M0: No distant metastasis. G2: Total differentiation, mitotic count and necrosis score of 4 or 5. G3: Total differentiation, mitotic count and necrosis score of 6, 7, or 8. (AJCC 8th ed.)|NCI|N|
C4527009|Stage IIIA includes: T2, N0, M0, G2, G3. T2: Tumor measuring more than 5 cm and less than or equal to 10 cm in greatest dimension. N0: No regional lymph node metastasis or unknown lymph node status. M0: No distant metastasis. G2: Total differentiation, mitotic count and necrosis score of 4 or 5. G3: Total differentiation, mitotic count and necrosis score of 6, 7, or 8. (AJCC 8th ed.)|NCI|N|
C4527010|Stage IIIB includes: (T3, T4, N0, M0, G2, G3); (Any T, N1, M0, Any G). T3: Tumor measuring more than 10 cm and less than or equal to 15 cm in greatest dimension. T4: Tumor measuring more than 15 cm in greatest dimension. N0: No regional lymph node metastasis or unknown lymph node status. N1: Regional lymph node metastasis. M0: No distant metastasis. G2: Total differentiation, mitotic count and necrosis score of 4 or 5. G3: Total differentiation, mitotic count and necrosis score of 6, 7, or 8. (AJCC 8th ed.)|NCI|N|
C4527011|Stage IV includes: Any T, Any N, M1, Any G. M1: Distant metastasis. (AJCC 8th ed.)|NCI|N|
C4527017|A finding about one or more characteristics of skin cancer, following the rules of the TNM AJCC v8 classification system. It applies to Merkel cell carcinoma and melanoma of the skin. (from AJCC 8th Ed.)|NCI|N|
C4527018|A finding about one or more characteristics of Merkel cell carcinoma (primary cutaneous neuroendocrine carcinoma), following the rules of the TNM AJCC v8 classification system. (from AJCC 8th Ed.)|NCI|N|
C4527019|A clinical finding about one or more characteristics of Merkel cell carcinoma, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4527020|A clinical finding about one or more characteristics of Merkel cell carcinoma, following the rules of the TNM AJCC v8 classification system as they pertain to distant metastases.|NCI|N|
C4527021|Merkel cell carcinoma without distant metastasis detected on clinical and/or radiologic examination. (from AJCC 8th Ed.)|NCI|N|
C4527022|Merkel cell carcinoma with distant metastasis detected on clinical and/or radiologic examination. (from AJCC 8th Ed.)|NCI|N|
C4527023|Merkel cell carcinoma with metastasis to distant skin, distant subcutaneous tissue, or distant lymph node(s). (from AJCC 8th Ed.)|NCI|N|
C4527024|Merkel cell carcinoma with metastasis to lung. (from AJCC 8th Ed.)|NCI|N|
C4527025|Merkel cell carcinoma with metastasis to all other visceral sites. (from AJCC 8th Ed.)|NCI|N|
C4527026|A clinical finding about one or more characteristics of Merkel cell carcinoma, following the rules of the TNM AJCC v8 classification system as they pertain to staging of the primary tumor.|NCI|N|
C4527027|Merkel cell carcinoma in which the primary tumor cannot be assessed (e.g., curetted). (from AJCC 8th Ed.)|NCI|N|
C4527028|Merkel cell carcinoma with no evidence of primary tumor. (from AJCC 8th Ed.)|NCI|N|
C4527029|Merkel cell carcinoma with a finding of in situ primary tumor. (from AJCC 8th Ed.)|NCI|N|
C4527030|Merkel cell carcinoma with maximum clinical tumor diameter equal to or less than 2 cm. (from AJCC 8th Ed.)|NCI|N|
C4527031|Merkel cell carcinoma with maximum clinical tumor diameter more than 2 cm but equal to or less than 5 cm. (from AJCC 8th Ed.)|NCI|N|
C4527032|Merkel cell carcinoma with maximum clinical tumor diameter more than 5 cm. (from AJCC 8th Ed.)|NCI|N|
C4527033|Merkel cell carcinoma with primary tumor invading fascia, muscle, cartilage, or bone. (from AJCC 8th Ed.)|NCI|N|
C4527034|Merkel cell carcinoma in which the regional lymph nodes cannot be clinically assessed (e.g., previously removed for another reason, or because of body habitus). (from AJCC 8th Ed.)|NCI|N|
C4527035|Merkel cell carcinoma without regional lymph node metastasis detected on clinical and/or radiologic examination. (from AJCC 8th Ed.)|NCI|N|
C4527036|Merkel cell carcinoma with metastasis in regional lymph node(s). (from AJCC 8th Ed.)|NCI|N|
C4527037|Merkel cell carcinoma with in-transit metastasis (discontinuous from primary tumor; located between primary tumor and draining regional nodal basin, or distal to the primary tumor) without lymph node metastasis. (from AJCC 8th Ed.)|NCI|N|
C4527038|Merkel cell carcinoma with in-transit metastasis (discontinuous from primary tumor; located between primary tumor and draining regional nodal basin, or distal to the primary tumor) with lymph node metastasis. (from AJCC 8th Ed.)|NCI|N|
C4527039|A pathologic finding about one or more characteristics of Merkel cell carcinoma, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4527040|A pathologic finding about one or more characteristics of Merkel cell carcinoma, following the rules of the TNM AJCC v8 classification system as they pertain to distant metastases.|NCI|N|
C4527041|Merkel cell carcinoma with distant metastasis microscopically confirmed. (from AJCC 8th Ed.)|NCI|N|
C4527042|Merkel cell carcinoma with metastasis to distant skin, distant subcutaneous tissue, or distant lymph node(s), microscopically confirmed. (from AJCC 8th Ed.)|NCI|N|
C4527043|Merkel cell carcinoma with metastasis to lung, microscopically confirmed. (from AJCC 8th Ed.)|NCI|N|
C4527044|Merkel cell carcinoma with metastasis to all other distant sites, microscopically confirmed. (from AJCC 8th Ed.)|NCI|N|
C4527045|A pathologic finding about one or more characteristics of Merkel cell carcinoma, following the rules of the TNM AJCC v8 classification system as they pertain to staging of regional lymph nodes.|NCI|N|
C4527046|Merkel cell carcinoma in which the regional lymph nodes cannot be assessed (e.g., previously removed for another reason or not removed for pathologic evaluation). (from AJCC 8th Ed.)|NCI|N|
C4527047|Merkel cell carcinoma without regional lymph node metastasis detected on pathologic examination. (from AJCC 8th Ed.)|NCI|N|
C4527048|Merkel cell carcinoma with metastasis in regional lymph node(s). (from AJCC 8th Ed.)|NCI|N|
C4527049|Merkel cell carcinoma with clinically occult regional lymph node metastasis identified only by sentinel lymph node biopsy. (from AJCC 8th Ed.)|NCI|N|
C4527050|Merkel cell carcinoma with clinically occult regional lymph node metastasis following lymph node dissection. (from AJCC 8th Ed.)|NCI|N|
C4527051|Merkel cell carcinoma with clinically and/or radiologically detected regional lymph node metastasis, microscopically confirmed. (from AJCC 8th Ed.)|NCI|N|
C4527052|Merkel cell carcinoma with in-transit metastasis (discontinuous from primary tumor; located between primary tumor and draining regional nodal basin, or distal to the primary tumor) without lymph node metastasis. (from AJCC 8th Ed.)|NCI|N|
C4527053|Merkel cell carcinoma with in-transit metastasis (discontinuous from primary tumor; located between primary tumor and draining regional nodal basin, or distal to the primary tumor) with lymph node metastasis. (from AJCC 8th Ed.)|NCI|N|
C4527054|A term that refers to the staging of Merkel cell carcinoma (primary cutaneous neuroendocrine carcinoma), following the rules of the TNM AJCC v7 classification system.|NCI|N|
C4527055|A term that refers to the staging of Merkel cell carcinoma (primary cutaneous neuroendocrine carcinoma), following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4527056|A term that refers to the clinical staging of Merkel cell carcinoma (primary cutaneous neuroendocrine carcinoma), following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4527057|Stage 0 includes: Tis, N0, M0. Tis: In situ primary tumor. N0: No regional lymph node metastasis detected on clinical and/or radiologic examination. M0: No distant metastasis detected on clinical and/or radiologic examination. (AJCC 8th ed.)|NCI|N|
C4527058|Stage I includes: T1, N0, M0. T1: Maximum clinical tumor diameter equal to or less than 2 cm. N0: No regional lymph node metastasis detected on clinical and/or radiologic examination. M0: No distant metastasis detected on clinical and/or radiologic examination. (AJCC 8th ed.)|NCI|N|
C4527059|Stage II includes: IIA: (T2-3, N0, M0); IIB: (T4, N0, M0). T2: Maximum clinical tumor diameter more than 2 cm but equal to or less than 5 cm. T3: Maximum clinical tumor diameter more than 5 cm. T4: Primary tumor invades fascia, muscle, cartilage, or bone. N0: No regional lymph node metastasis detected on clinical and/or radiologic examination. M0: No distant metastasis detected on clinical and/or radiologic examination. (AJCC 8th ed.)|NCI|N|
C4527060|Stage IIA includes: T2-3, N0, M0. T2: Maximum clinical tumor diameter more than 2 cm but equal to or less than 5 cm. T3: Maximum clinical tumor diameter more than 5 cm. N0: No regional lymph node metastasis detected on clinical and/or radiologic examination. M0: No distant metastasis detected on clinical and/or radiologic examination. (AJCC 8th ed.)|NCI|N|
C4527061|Stage IIB includes: T4, N0, M0. T4: Primary tumor invades fascia, muscle, cartilage, or bone. N0: No regional lymph node metastasis detected on clinical and/or radiologic examination. M0: No distant metastasis detected on clinical and/or radiologic examination. (AJCC 8th ed.)|NCI|N|
C4527062|Stage III includes: T0-4, N1-3, M0. T0: No evidence of primary tumor. T1: Maximum clinical tumor diameter equal to or less than 2 cm. T2: Maximum clinical tumor diameter more than 2 cm but equal to or less than 5 cm. T3: Maximum clinical tumor diameter more than 5 cm. T4: Primary tumor invades fascia, muscle, cartilage, or bone. N1: Metastasis in regional lymph node(s). N2: In-transit metastasis (discontinuous from primary tumor; located between primary tumor and draining regional nodal basin, or distal to the primary tumor) without lymph node metastasis. N3: In-transit metastasis (discontinuous from primary tumor; located between primary tumor and draining regional nodal basin, or distal to the primary tumor) with lymph node metastasis. M0: No distant metastasis detected on clinical and/or radiologic examination. (AJCC 8th ed.)|NCI|N|
C4527063|Stage IV includes: T0-4, Any N, M1. T0: No evidence of primary tumor. T1: Maximum clinical tumor diameter equal to or less than 2 cm. T2: Maximum clinical tumor diameter more than 2 cm but equal to or less than 5 cm. T3: Maximum clinical tumor diameter more than 5 cm. T4: Primary tumor invades fascia, muscle, cartilage, or bone. M1: Distant metastasis detected on clinical and/or radiologic examination. (AJCC 8th ed.)|NCI|N|
C4527065|A term that refers to the pathologic staging of Merkel cell carcinoma (primary cutaneous neuroendocrine carcinoma), following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4527066|Stage 0 includes: Tis, N0, M0. Tis: In situ primary tumor. N0: No regional lymph node metastasis detected on pathologic examination. M0: No distant metastasis detected on clinical and/or radiologic examination. (AJCC 8th ed.)|NCI|N|
C4527067|Stage I includes: T1, N0, M0. T1: Maximum clinical tumor diameter equal to or less than 2 cm. N0: No regional lymph node metastasis detected on pathologic examination. M0: No distant metastasis detected on clinical and/or radiologic examination. (AJCC 8th ed.)|NCI|N|
C4527068|Stage II includes: IIA: (T2-3, N0, M0); IIB: (T4, N0, M0). T2: Maximum clinical tumor diameter more than 2 cm but equal to or less than 5 cm. T3: Maximum clinical tumor diameter more than 5 cm. T4: Primary tumor invades fascia, muscle, cartilage, or bone. N0: No regional lymph node metastasis detected on pathologic examination. M0: No distant metastasis detected on clinical and/or radiologic examination. (AJCC 8th ed.)|NCI|N|
C4527069|Stage IIA includes: T2-3, N0, M0. T2: Maximum clinical tumor diameter more than 2 cm but equal to or less than 5 cm. T3: Maximum clinical tumor diameter more than 5 cm. N0: No regional lymph node metastasis detected on pathologic examination. M0: No distant metastasis detected on clinical and/or radiologic examination. (AJCC 8th ed.)|NCI|N|
C4527070|Stage IIB includes: T4, N0, M0. T4: Primary tumor invades fascia, muscle, cartilage, or bone. N0: No regional lymph node metastasis detected on pathologic examination. M0: No distant metastasis detected on clinical and/or radiologic examination. (AJCC 8th ed.)|NCI|N|
C4527071|Stage III includes: IIIA: (T1-4, N1a(sn) or N1a, M0); (T0, N1b, M0); IIIB: (T1-4, N1b-3, M0). T0: No evidence of primary tumor. T1: Maximum clinical tumor diameter equal to or less than 2 cm. T2: Maximum clinical tumor diameter more than 2 cm but equal to or less than 5 cm. T3: Maximum clinical tumor diameter more than 5 cm. T4: Primary tumor invades fascia, muscle, cartilage, or bone. N1a(sn): Clinically occult regional lymph node metastasis identified only by sentinel lymph node biopsy. N1a: Clinically occult regional lymph node metastasis following lymph node dissection. N1b: Clinically and/or radiologically detected regional lymph node metastasis, microscopically confirmed. N2: In-transit metastasis (discontinuous from primary tumor; located between primary tumor and draining regional nodal basin, or distal to the primary tumor) without lymph node metastasis. N3: In-transit metastasis (discontinuous from primary tumor; located between primary tumor and draining regional nodal basin, or distal to the primary tumor) with lymph node metastasis. M0: No distant metastasis detected on clinical and/or radiologic examination. (AJCC 8th ed.)|NCI|N|
C4527072|Stage IIIB includes: T1-4, N1b-3, M0. T1: Maximum clinical tumor diameter equal to or less than 2 cm. T2: Maximum clinical tumor diameter more than 2 cm but equal to or less than 5 cm. T3: Maximum clinical tumor diameter more than 5 cm. T4: Primary tumor invades fascia, muscle, cartilage, or bone. N1b: Clinically and/or radiologically detected regional lymph node metastasis, microscopically confirmed. N2: In-transit metastasis (discontinuous from primary tumor; located between primary tumor and draining regional nodal basin, or distal to the primary tumor) without lymph node metastasis. N3: In-transit metastasis (discontinuous from primary tumor; located between primary tumor and draining regional nodal basin, or distal to the primary tumor) with lymph node metastasis. M0: No distant metastasis detected on clinical and/or radiologic examination. (AJCC 8th ed.)|NCI|N|
C4527073|Stage IV includes: T0-4, Any N, M1. T0: No evidence of primary tumor. T1: Maximum clinical tumor diameter equal to or less than 2 cm. T2: Maximum clinical tumor diameter more than 2 cm but equal to or less than 5 cm. T3: Maximum clinical tumor diameter more than 5 cm. T4: Primary tumor invades fascia, muscle, cartilage, or bone. M1: Distant metastasis microscopically confirmed. (AJCC 8th ed.)|NCI|N|
C4527074|A finding about one or more characteristics of cutaneous melanoma, following the rules of the TNM AJCC v8 classification system. This classification system does not apply to melanoma of the conjunctiva, melanoma of the uvea, mucosal melanoma arising in the head and neck, and mucosal melanoma of the urethra, vagina, rectum, and anus. (from AJCC 8th Ed.)|NCI|N|
C4527075|A clinical finding about one or more characteristics of cutaneous melanoma, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4527076|A clinical finding about one or more characteristics of cutaneous melanoma, following the rules of the TNM AJCC v8 classification system as they pertain to distant metastases.|NCI|N|
C4527077|Cutaneous melanoma without evidence of distant metastasis. LDH level is not applicable. (from AJCC 8th Ed.)|NCI|N|
C4527078|Cutaneous melanoma with evidence of distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4527079|Cutaneous melanoma with distant metastasis to skin, soft tissue including muscle, and/or nonregional lymph node. LDH level not recorded or unspecified. (from AJCC 8th Ed.)|NCI|N|
C4527080|Cutaneous melanoma with distant metastasis to skin, soft tissue including muscle, and/or nonregional lymph node. LDH level not elevated. (from AJCC 8th Ed.)|NCI|N|
C4527081|Cutaneous melanoma with distant metastasis to skin, soft tissue including muscle, and/or nonregional lymph node. LDH level elevated. (from AJCC 8th Ed.)|NCI|N|
C4527082|Cutaneous melanoma with distant metastasis to lung with or without M1a sites of disease. LDH level not recorded or unspecified. (from AJCC 8th Ed.)|NCI|N|
C4527083|Cutaneous melanoma with distant metastasis to lung with or without M1a sites of disease. LDH level not elevated. (from AJCC 8th Ed.)|NCI|N|
C4527084|Cutaneous melanoma with distant metastasis to lung with or without M1a sites of disease. LDH level elevated. (from AJCC 8th Ed.)|NCI|N|
C4527085|Cutaneous melanoma with distant metastasis to non-CNS visceral sites with or without M1a or M1b sites of disease. LDH level not recorded or unspecified. (from AJCC 8th Ed.)|NCI|N|
C4527086|Cutaneous melanoma with distant metastasis to non-CNS visceral sites with or without M1a or M1b sites of disease. LDH level not elevated. (from AJCC 8th Ed.)|NCI|N|
C4527087|Cutaneous melanoma with distant metastasis to non-CNS visceral sites with or without M1a or M1b sites of disease. LDH level elevated. (from AJCC 8th Ed.)|NCI|N|
C4527088|Cutaneous melanoma with distant metastasis to CNS with or without M1a, M1b, or M1c sites of disease. LDH level not recorded or unspecified. (from AJCC 8th Ed.)|NCI|N|
C4527089|Cutaneous melanoma with distant metastasis to CNS with or without M1a, M1b, or M1c sites of disease. LDH level normal. (from AJCC 8th Ed.)|NCI|N|
C4527090|Cutaneous melanoma with distant metastasis to CNS with or without M1a, M1b, or M1c sites of disease. LDH level elevated. (from AJCC 8th Ed.)|NCI|N|
C4527091|A clinical finding about one or more characteristics of cutaneous melanoma, following the rules of the TNM AJCC v8 classification system as they pertain to staging of regional lymph nodes. The TNM clinical and pathologic regional lymph nodes classifications of cutaneous melanoma are not the same. TNM clinical regional lymph nodes findings are based on clinical/radiographic examination of the regional lymph nodes (clinically detected regional lymph node metastasis). (from AJCC 8th Ed.)|NCI|N|
C4527092|Cutaneous melanoma in which the regional lymph nodes are not assessed (e.g., sentinel lymph node biopsy is not performed, regional lymph nodes were previously removed for another reason). Exception: pathological N category is not required for T1 melanomas, use cN. Presence of in-transit, satellite, and/or microsatellite metastases: No. (from AJCC 8th Ed.)|NCI|N|
C4527093|Cutaneous melanoma without regional lymph node metastasis. Presence of in-transit, satellite, and/or microsatellite metastases: No. (from AJCC 8th Ed.)|NCI|N|
C4527094|Cutaneous melanoma with one tumor-involved node or in-transit satellite, and/or microsatellite metastases with no tumor-involved nodes. (from AJCC 8th Ed.)|NCI|N|
C4527095|Cutaneous melanoma with one clinically detected nodal metastasis. Presence of in-transit, satellite, and/or microsatellite metastases: No. (from AJCC 8th Ed.)|NCI|N|
C4527096|Cutaneous melanoma with no regional lymph node disease. Presence of in-transit, satellite, and/or microsatellite metastases: Yes. (from AJCC 8th Ed.)|NCI|N|
C4527097|Cutaneous melanoma with two or three tumor-involved nodes or in-transit satellite, and/or microsatellite metastases with one tumor-involved node. (from AJCC 8th Ed.)|NCI|N|
C4527098|Cutaneous melanoma with two or three nodal metastases at least one of which was clinically detected. Presence of in-transit, satellite, and/or microsatellite metastases: No. (from AJCC 8th Ed.)|NCI|N|
C4527099|Cutaneous melanoma with one clinically detected metastasis. Presence of in-transit, satellite, and/or microsatellite metastases: Yes. (from AJCC 8th Ed.)|NCI|N|
C4527100|Cutaneous melanoma with four or more tumor-involved nodes or in-transit satellite, and/or microsatellite metastases with two or more tumor-involved nodes, or any number of matted nodes without or with in-transit, satellite, and/or microsatellite metastases. (from AJCC 8th Ed.)|NCI|N|
C4527101|Cutaneous melanoma with four or more nodal metastases, at least one of which was clinically detected, or presence of any number of matted nodes. Presence of in-transit, satellite, and/or microsatellite metastases: No. (from AJCC 8th Ed.)|NCI|N|
C4527102|Cutaneous melanoma with two or more clinically detected nodal metastases and/or presence of any number of matted nodes. Presence of in-transit, satellite, and/or microsatellite metastases: Yes. (from AJCC 8th Ed.)|NCI|N|
C4527103|A pathologic finding about one or more characteristics of cutaneous melanoma, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4527104|A pathologic finding about one or more characteristics of cutaneous melanoma, following the rules of the TNM AJCC v8 classification system as they pertain to distant metastases.|NCI|N|
C4527105|Cutaneous melanoma with distant metastasis to skin, soft tissue including muscle, and/or nonregional lymph node. LDH level not recorded or unspecified. (from AJCC 8th Ed.)|NCI|N|
C4527106|Cutaneous melanoma with distant metastasis to skin, soft tissue including muscle, and/or nonregional lymph node. LDH level not elevated. (from AJCC 8th Ed.)|NCI|N|
C4527107|Cutaneous melanoma with distant metastasis to skin, soft tissue including muscle, and/or nonregional lymph node. LDH level elevated. (from AJCC 8th Ed.)|NCI|N|
C4527108|Cutaneous melanoma with distant metastasis to lung with or without M1a sites of disease. LDH level not recorded or unspecified. (from AJCC 8th Ed.)|NCI|N|
C4527109|Cutaneous melanoma with distant metastasis to lung with or without M1a sites of disease. LDH level not elevated. (from AJCC 8th Ed.)|NCI|N|
C4527110|Cutaneous melanoma with distant metastasis to lung with or without M1a sites of disease. LDH level elevated. (from AJCC 8th Ed.)|NCI|N|
C4527111|Cutaneous melanoma with distant metastasis to non-CNS visceral sites with or without M1a or M1b sites of disease. LDH level not recorded or unspecified. (from AJCC 8th Ed.)|NCI|N|
C4527112|Cutaneous melanoma with distant metastasis to non-CNS visceral sites with or without M1a or M1b sites of disease. LDH level not elevated. (from AJCC 8th Ed.)|NCI|N|
C4527113|Cutaneous melanoma with distant metastasis to non-CNS visceral sites with or without M1a or M1b sites of disease. LDH level elevated. (from AJCC 8th Ed.)|NCI|N|
C4527114|Cutaneous melanoma with distant metastasis to CNS with or without M1a, M1b, or M1c sites of disease. LDH level not recorded or unspecified. (from AJCC 8th Ed.)|NCI|N|
C4527115|Cutaneous melanoma with distant metastasis to CNS with or without M1a, M1b, or M1c sites of disease. LDH level normal. (from AJCC 8th Ed.)|NCI|N|
C4527116|Cutaneous melanoma with distant metastasis to CNS with or without M1a, M1b, or M1c sites of disease. LDH level elevated. (from AJCC 8th Ed.)|NCI|N|
C4527117|A pathologic finding about one or more characteristics of cutaneous melanoma, following the rules of the TNM AJCC v8 classification system as they pertain to staging of the primary tumor.|NCI|N|
C4527118|Cutaneous melanoma in which the primary tumor thickness cannot be assessed (e.g., diagnosis by curettage). Thickness: Not applicable. Ulceration status: Not applicable. (from AJCC 8th Ed.)|NCI|N|
C4527119|Cutaneous melanoma with no evidence of primary tumor (e.g., unknown primary or completely regressed melanoma). Thickness: Not applicable. Ulceration status: Not applicable. (from AJCC 8th Ed.)|NCI|N|
C4527120|Cutaneous melanoma with a finding of melanoma in situ. Thickness: Not applicable. Ulceration status: Not applicable. (from AJCC 8th Ed.)|NCI|N|
C4527121|Cutaneous melanoma measuring 1.0 mm or less in thickness. Ulceration status: Unknown or unspecified. (from AJCC 8th Ed.)|NCI|N|
C4527122|Cutaneous melanoma measuring less than 0.8 mm in thickness. Ulceration status: Without ulceration. (from AJCC 8th Ed.)|NCI|N|
C4527123|Cutaneous melanoma measuring less than 0.8 mm in thickness with ulceration, or 0.8-1.0 mm with or without ulceration. (from AJCC 8th Ed.)|NCI|N|
C4527124|Cutaneous melanoma measuring more than 1.0 and equal to or less than 2.0 mm in thickness. Ulceration status: Unknown or unspecified. (from AJCC 8th Ed.)|NCI|N|
C4527125|Cutaneous melanoma measuring more than 1.0 and equal to or less than 2.0 mm in thickness. Ulceration status: Without ulceration. (from AJCC 8th Ed.)|NCI|N|
C4527126|Cutaneous melanoma measuring more than 1.0 and equal to or less than 2.0 mm in thickness. Ulceration status: With ulceration. (from AJCC 8th Ed.)|NCI|N|
C4527127|Cutaneous melanoma measuring more than 2.0 and equal to or less than 4.0 mm in thickness. Ulceration status: Unknown or unspecified. (from AJCC 8th Ed.)|NCI|N|
C4527128|Cutaneous melanoma measuring more than 2.0 and equal to or less than 4.0 mm in thickness. Ulceration status: Without ulceration. (from AJCC 8th Ed.)|NCI|N|
C4527129|Cutaneous melanoma measuring more than 2.0 and equal to or less than 4.0 mm in thickness. Ulceration status: With ulceration. (from AJCC 8th Ed.)|NCI|N|
C4527130|Cutaneous melanoma measuring more than 4.0 mm in thickness. Ulceration status: Unknown or unspecified. (from AJCC 8th Ed.)|NCI|N|
C4527131|Cutaneous melanoma measuring more than 4.0 mm in thickness. Ulceration status: Without ulceration. (from AJCC 8th Ed.)|NCI|N|
C4527132|Cutaneous melanoma measuring more than 4.0 mm in thickness. Ulceration status: With ulceration. (from AJCC 8th Ed.)|NCI|N|
C4527133|A pathologic finding about one or more characteristics of cutaneous melanoma, following the rules of the TNM AJCC v8 classification system as they pertain to staging of regional lymph nodes. The TNM pathologic and clinical regional lymph nodes classifications of cutaneous melanoma are not the same. TNM pathologic findings are based on the microscopic examination of the regional lymph nodes, usually detected by lymphatic mapping and sentinel lymph node biopsy (clinically occult regional lymph node metastasis). (from AJCC 8th Ed.)|NCI|N|
C4527134|Cutaneous melanoma in which the regional lymph nodes are not assessed (e.g., sentinel lymph node biopsy is not performed, regional lymph nodes were previously removed for another reason). Exception: pathological N category is not required for T1 melanomas, use cN. Presence of in-transit, satellite, and/or microsatellite metastases: No. (from AJCC 8th Ed.)|NCI|N|
C4527135|Cutaneous melanoma without regional lymph node metastasis. Presence of in-transit, satellite, and/or microsatellite metastases: No. (from AJCC 8th Ed.)|NCI|N|
C4527136|Cutaneous melanoma with one tumor-involved node or in-transit satellite, and/or microsatellite metastases with no tumor-involved nodes. (from AJCC 8th Ed.)|NCI|N|
C4527137|Cutaneous melanoma with no regional lymph node disease. Presence of in-transit, satellite, and/or microsatellite metastases: Yes. (from AJCC 8th Ed.)|NCI|N|
C4527138|Cutaneous melanoma with two or three tumor-involved nodes or in-transit satellite, and/or microsatellite metastases with one tumor-involved node. (from AJCC 8th Ed.)|NCI|N|
C4527139|Cutaneous melanoma with two or three clinically occult nodal metastases (i.e., detected by sentinel lymph node biopsy). Presence of in-transit, satellite, and/or microsatellite metastases: No. (from AJCC 8th Ed.)|NCI|N|
C4527140|Cutaneous melanoma with one clinically occult nodal metastasis. Presence of in-transit, satellite, and/or microsatellite metastases: Yes. (from AJCC 8th Ed.)|NCI|N|
C4527141|Cutaneous melanoma with four or more tumor-involved nodes or in-transit satellite, and/or microsatellite metastases with two or more tumor-involved nodes, or any number of matted nodes without or with in-transit, satellite, and/or microsatellite metastases. (from AJCC 8th Ed.)|NCI|N|
C4527142|Cutaneous melanoma with four or more clinically occult nodal metastasis (i.e., detected by sentinel lymph node biopsy). Presence of in-transit, satellite, and/or microsatellite metastases: No. (from AJCC 8th Ed.)|NCI|N|
C4527143|A score indicating that a patient has 0 or 1 risk factors associated with follicular lymphoma and is considered in the low risk group.|NCI|N|
C4527144|Cutaneous melanoma with two or more clinically occult nodal metastases. Presence of in-transit, satellite, and/or microsatellite metastases: Yes. (from AJCC 8th Ed.)|NCI|N|
C4527145|A score indicating that a patient has 2 risk factors associated with follicular lymphoma and is considered in the intermediate risk group.|NCI|N|
C4527146|A score indicating that a patient has 3 or more risk factors associated with follicular lymphoma and is considered in the high risk group.|NCI|N|
C4527147|A change in the nucleotide sequence of the EPCAM gene that is associated with increased risk of disease.|NCI|N|
C4527148|The reemergence of lymphocyte-rich classic Hodgkin lymphoma after a period of remission.|NCI|N|
C4527149|An aggressive, castration-resistant, histologically distinct, metastatic carcinoma arising from the prostate gland. It is characterized by the presence of a pure population of cytologically bland malignant epithelial cells with moderate to abundant cytoplasm and rare mitotic figures. The prognosis is poor.|NCI|N|
C4527151|A neoplasm arising from the mesothelium that occurs in Oncorhynchus mykiss.|NCI|N|
C4527152|A measurement of the backward flow of blood through the tricuspid valve during right ventricle contraction. It correlates with pulmonary artery systolic pressure at rest and with exercise. A tricuspid regurgitation velocity greater than or equal to 2.5 m/sec on echocardiography is a surrogate marker for pulmonary hypertension in adults with sickle cell disease.|NCI|N|
C4527160|A term that refers to the staging of cutaneous melanoma, following the rules of the TNM AJCC v8 classification system. This staging system does not apply to melanoma of the conjunctiva, melanoma of the uvea, mucosal melanoma arising in the head and neck, and mucosal melanoma of the urethra, vagina, rectum, and anus. (from AJCC 8th Ed.)|NCI|N|
C4527161|A term that refers to the clinical staging of cutaneous melanoma, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4527162|Stage 0 includes: Tis, N0, M0. Tis: Melanoma in situ. Thickness: Not applicable. Ulceration status: Not applicable. N0: No regional lymph node metastasis detected. Presence of in-transit, satellite, and/or microsatellite metastases: No. M0: No evidence of distant metastasis. LDH level is not applicable. (AJCC 8th ed.)|NCI|N|
C4527163|Stage I includes: IA: (T1a, N0, M0); IB: (T1b, N0, M0); (T2a, N0, M0). T1a: Tumor measuring less than 0.8 mm in thickness. Ulceration status: Without ulceration. T1b: Tumor measuring less than 0.8 mm in thickness with ulceration, or 0.8-1.0 mm with or without ulceration. T2a: Tumor measuring more than 1.0 and equal to or less than 2.0 mm in thickness. Ulceration status: Without ulceration. N0: No regional lymph node metastasis detected. Presence of in-transit, satellite, and/or microsatellite metastases: No. M0: No evidence of distant metastasis. LDH level is not applicable. (AJCC 8th ed.)|NCI|N|
C4527164|Stage IA includes: T1a, N0, M0. T1a: Tumor measuring less than 0.8 mm in thickness. Ulceration status: Without ulceration. N0: No regional lymph node metastasis detected. Presence of in-transit, satellite, and/or microsatellite metastases: No. M0: No evidence of distant metastasis. LDH level is not applicable. (AJCC 8th ed.)|NCI|N|
C4527165|Stage IB includes: (T1b, N0, M0); (T2a, N0, M0). T1b: Tumor measuring less than 0.8 mm in thickness with ulceration, or 0.8-1.0 mm with or without ulceration. T2a: Tumor measuring more than 1.0 and equal to or less than 2.0 mm in thickness. Ulceration status: Without ulceration. N0: No regional lymph node metastasis detected. Presence of in-transit, satellite, and/or microsatellite metastases: No. M0: No evidence of distant metastasis. LDH level is not applicable. (AJCC 8th ed.)|NCI|N|
C4527166|Stage II includes: IIA: (T2b, N0, M0); (T3a, N0, M0); IIB: (T3b, N0, M0); (T4a, N0, M0); IIC: (T4b, N0, M0). T2b: Tumor measuring more than 1.0 and equal to or less than 2.0 mm in thickness. Ulceration status: With ulceration. T3a: Tumor measuring more than 2.0 and equal to or less than 4.0 mm in thickness. Ulceration status: Without ulceration. T3b: Tumor measuring more than 2.0 and equal to or less than 4.0 mm in thickness. Ulceration status: With ulceration. T4a: Tumor measuring more than 4.0 mm in thickness. Ulceration status: Without ulceration. T4b: Tumor measuring more than 4.0 mm in thickness. Ulceration status: With ulceration. N0: No regional lymph node metastasis detected. Presence of in-transit, satellite, and/or microsatellite metastases: No. M0: No evidence of distant metastasis. LDH level is not applicable. (AJCC 8th ed.)|NCI|N|
C4527167|Stage IIA includes: (T2b, N0, M0); (T3a, N0, M0). T2b: Tumor measuring more than 1.0 and equal to or less than 2.0 mm in thickness. Ulceration status: With ulceration. T3a: Tumor measuring more than 2.0 and equal to or less than 4.0 mm in thickness. Ulceration status: Without ulceration. N0: No regional lymph node metastasis detected. Presence of in-transit, satellite, and/or microsatellite metastases: No. M0: No evidence of distant metastasis. LDH level is not applicable. (AJCC 8th ed.)|NCI|N|
C4527168|Stage IIB includes: (T3b, N0, M0); (T4a, N0, M0). T3b: Tumor measuring more than 2.0 and equal to or less than 4.0 mm in thickness. Ulceration status: With ulceration. T4a: Tumor measuring more than 4.0 mm in thickness. Ulceration status: Without ulceration. N0: No regional lymph node metastasis detected. Presence of in-transit, satellite, and/or microsatellite metastases: No. M0: No evidence of distant metastasis. LDH level is not applicable. (AJCC 8th ed.)|NCI|N|
C4527169|Stage IIC includes: T4b, N0, M0. T4b: Tumor measuring more than 4.0 mm in thickness. Ulceration status: With ulceration. N0: No regional lymph node metastasis detected. Presence of in-transit, satellite, and/or microsatellite metastases: No. M0: No evidence of distant metastasis. LDH level is not applicable. (AJCC 8th ed.)|NCI|N|
C4527170|Stage III includes: Any T, Tis, N1 or More, M0. Tis: Melanoma in situ. Thickness: Not applicable. Ulceration status: Not applicable. N1: One tumor-involved node or in-transit, satellite, and/or microsatellite metastases with no tumor-involved nodes. N2: Two or three tumor-involved nodes or in-transit, satellite, and/or microsatellite metastases with one tumor-involved node. N3: Four or more tumor-involved nodes or in-transit, satellite, and/or microsatellite metastases with two or more tumor-involved nodes, or any number of matted nodes without or with in-transit, satellite, and/or microsatellite metastases. M0: No evidence of distant metastasis. LDH level is not applicable. (AJCC 8th ed.)|NCI|N|
C4527171|Stage IV includes: Any T, Any N, M1. M1: Evidence of distant metastasis. (AJCC 8th ed.)|NCI|N|
C4527173|A score indicating that a patient has 0 risk factors associated with follicular lymphoma and is considered in the low risk group.|NCI|N|
C4527174|A score indicating that a patient has 1-2 risk factors associated with follicular lymphoma and is considered in the intermediate risk group.|NCI|N|
C4527175|A score indicating that a patient has 3-5 risk factors associated with follicular lymphoma and is considered in the high risk group.|NCI|N|
C4527176|Stage 0 includes: Tis, N0, M0. Tis: Melanoma in situ. Thickness: Not applicable. Ulceration status: Not applicable. N0: No regional lymph node metastasis detected. Presence of in-transit, satellite, and/or microsatellite metastases: No. M0: No evidence of distant metastasis. LDH level is not applicable. (AJCC 8th ed.)|NCI|N|
C4527177|Stage I includes: IA: (T1a, N0, M0); (T1b, N0, M0); IB: (T2a, N0, M0). T1a: Tumor measuring less than 0.8 mm in thickness. Ulceration status: Without ulceration. T1b: Tumor measuring less than 0.8 mm in thickness with ulceration, or 0.8-1.0 mm with or without ulceration. T2a: Tumor measuring more than 1.0 and equal to or less than 2.0 mm in thickness. Ulceration status: Without ulceration. N0: No regional lymph node metastasis detected. Presence of in-transit, satellite, and/or microsatellite metastases: No. M0: No evidence of distant metastasis. LDH level is not applicable. (AJCC 8th ed.)|NCI|N|
C4527178|Stage IA includes: (T1a, N0, M0); (T1b, N0, M0). T1a: Tumor measuring less than 0.8 mm in thickness. Ulceration status: Without ulceration. T1b: Tumor measuring less than 0.8 mm in thickness with ulceration, or 0.8-1.0 mm with or without ulceration. N0: No regional lymph node metastasis detected. Presence of in-transit, satellite, and/or microsatellite metastases: No. M0: No evidence of distant metastasis. LDH level is not applicable. (AJCC 8th ed.)|NCI|N|
C4527179|Stage IB includes: T2a, N0, M0. T2a: Tumor measuring more than 1.0 and equal to or less than 2.0 mm in thickness. Ulceration status: Without ulceration. N0: No regional lymph node metastasis detected. Presence of in-transit, satellite, and/or microsatellite metastases: No. M0: No evidence of distant metastasis. LDH level is not applicable. (AJCC 8th ed.)|NCI|N|
C4527180|Stage II includes: IIA: (T2b, N0, M0); (T3a, N0, M0); IIB: (T3b, N0, M0); (T4a, N0, M0); IIC: (T4b, N0, M0). T2b: Tumor measuring more than 1.0 and equal to or less than 2.0 mm in thickness. Ulceration status: With ulceration. T3a: Tumor measuring more than 2.0 and equal to or less than 4.0 mm in thickness. Ulceration status: Without ulceration. T3b: Tumor measuring more than 2.0 and equal to or less than 4.0 mm in thickness. Ulceration status: With ulceration. T4a: Tumor measuring more than 4.0 mm in thickness. Ulceration status: Without ulceration. T4b: Tumor measuring more than 4.0 mm in thickness. Ulceration status: With ulceration. N0: No regional lymph node metastasis detected. Presence of in-transit, satellite, and/or microsatellite metastases: No. M0: No evidence of distant metastasis. LDH level is not applicable. (AJCC 8th ed.)|NCI|N|
C4527181|Stage IIA includes: (T2b, N0, M0); (T3a, N0, M0). T2b: Tumor measuring more than 1.0 and equal to or less than 2.0 mm in thickness. Ulceration status: With ulceration. T3a: Tumor measuring more than 2.0 and equal to or less than 4.0 mm in thickness. Ulceration status: Without ulceration. N0: No regional lymph node metastasis detected. Presence of in-transit, satellite, and/or microsatellite metastases: No. M0: No evidence of distant metastasis. LDH level is not applicable. (AJCC 8th ed.)|NCI|N|
C4527182|Stage IIB includes: (T3b, N0, M0); (T4a, N0, M0). T3b: Tumor measuring more than 2.0 and equal to or less than 4.0 mm in thickness. Ulceration status: With ulceration. T4a: Tumor measuring more than 4.0 mm in thickness. Ulceration status: Without ulceration. N0: No regional lymph node metastasis detected. Presence of in-transit, satellite, and/or microsatellite metastases: No. M0: No evidence of distant metastasis. LDH level is not applicable. (AJCC 8th ed.)|NCI|N|
C4527183|Stage IIC includes: T4b, N0, M0. T4b: Tumor measuring more than 4.0 mm in thickness. Ulceration status: With ulceration. N0: No regional lymph node metastasis detected. Presence of in-transit, satellite, and/or microsatellite metastases: No. M0: No evidence of distant metastasis. LDH level is not applicable. (AJCC 8th ed.)|NCI|N|
C4527184|Stage III includes: IIIA: (T1a/b-T2a, N1a or N2a, M0); IIIB: (T0, N1b, N1c, M0); (T1a/b-T2a, N1b/c or N2b, M0); (T2b/T3a, N1a-N2b, M0); IIIC: (T0, N2b, N2c, N3b or N3c); (T1a-T3a, N2c or N3a/b/c, M0); (T3b/T4a, Any N greater than or equal to N1, M0); (T4b, N1a-N2c, M0); IIID: (T4b, N3a/b/c, M0). T1a: Tumor measuring less than 0.8 mm in thickness. Ulceration status: Without ulceration. T1b: Tumor measuring less than 0.8 mm in thickness with ulceration, or 0.8-1.0 mm with or without ulceration. T2a: Tumor measuring more than 1.0 and equal to or less than 2.0 mm in thickness. Ulceration status: Without ulceration. T0: No evidence of primary tumor (e.g., unknown primary or completely regressed melanoma). Thickness: Not applicable. Ulceration status: Not applicable. T2b: Tumor measuring more than 1.0 and equal to or less than 2.0 mm in thickness. Ulceration status: With ulceration. T3a: Tumor measuring more than 2.0 and equal to or less than 4.0 mm in thickness. Ulceration status: Without ulceration. T3b: Tumor measuring more than 2.0 and equal to or less than 4.0 mm in thickness. Ulceration status: With ulceration. T4a: Tumor measuring more than 4.0 mm in thickness. Ulceration status: Without ulceration. T4b: Tumor measuring more than 4.0 mm in thickness. Ulceration status: With ulceration. N1a: One clinically occult nodal metastasis (i.e., detected by sentinel lymph node biopsy). Presence of in-transit, satellite, and/or microsatellite metastases: No. N2a: Two or three clinically occult nodal metastases (i.e., detected by sentinel lymph node biopsy). Presence of in-transit, satellite, and/or microsatellite metastases: No. N1b: One clinically detected nodal metastasis. Presence of in-transit, satellite, and/or microsatellite metastases: No. N1c: No regional lymph node disease. Presence of in-transit, satellite, and/or microsatellite metastases: Yes. N2b: Two or three nodal metastases at least one of which was clinically detected. Presence of in-transit, satellite, and/or microsatellite metastases: No. N2c: One clinically occult nodal metastasis. Presence of in-transit, satellite, and/or microsatellite metastases: Yes. N3b: Four or more nodal metastases, at least one of which was clinically detected, or presence of any number of matted nodes. Presence of in-transit, satellite, and/or microsatellite metastases: No. N3c: Two or more clinically occult nodal metastases. Presence of in-transit, satellite, and/or microsatellite metastases: Yes. N3a: Four or more clinically occult nodal metastasis (i.e., detected by sentinel lymph node biopsy). Presence of in-transit, satellite, and/or microsatellite metastases: No. M0: No evidence of distant metastasis. LDH level is not applicable. (AJCC 8th ed.)|NCI|N|
C4527185|Stage IIIA includes: T1a/b-T2a, N1a or N2a, M0. T1a: Tumor measuring less than 0.8 mm in thickness. Ulceration status: Without ulceration. T1b: Tumor measuring less than 0.8 mm in thickness with ulceration, or 0.8-1.0 mm with or without ulceration. T2a: Tumor measuring more than 1.0 and equal to or less than 2.0 mm in thickness. Ulceration status: Without ulceration. N1a: One clinically occult nodal metastasis (i.e., detected by sentinel lymph node biopsy). Presence of in-transit, satellite, and/or microsatellite metastases: No. N2a: Two or three clinically occult nodal metastases (i.e., detected by sentinel lymph node biopsy). Presence of in-transit, satellite, and/or microsatellite metastases: No. M0: No evidence of distant metastasis. LDH level is not applicable. (AJCC 8th ed.)|NCI|N|
C4527186|Stage IIIB includes: (T0, N1b, N1c, M0); (T1a/b-T2a, N1b/c or N2b, M0); (T2b/T3a, N1a-N2b, M0). T0: No evidence of primary tumor (e.g., unknown primary or completely regressed melanoma). Thickness: Not applicable. Ulceration status: Not applicable. T1a: Tumor measuring less than 0.8 mm in thickness. Ulceration status: Without ulceration. T1b: Tumor measuring less than 0.8 mm in thickness with ulceration, or 0.8-1.0 mm with or without ulceration. T2a: Tumor measuring more than 1.0 and equal to or less than 2.0 mm in thickness. Ulceration status: Without ulceration. T2b: Tumor measuring more than 1.0 and equal to or less than 2.0 mm in thickness. Ulceration status: With ulceration. T3a: Tumor measuring more than 2.0 and equal to or less than 4.0 mm in thickness. Ulceration status: Without ulceration. N1b: One clinically detected nodal metastasis. Presence of in-transit, satellite, and/or microsatellite metastases: No. N1c: No regional lymph node disease. Presence of in-transit, satellite, and/or microsatellite metastases: Yes. N2b: Two or three nodal metastases at least one of which was clinically detected. Presence of in-transit, satellite, and/or microsatellite metastases: No. N1a: One clinically occult nodal metastasis (i.e., detected by sentinel lymph node biopsy). Presence of in-transit, satellite, and/or microsatellite metastases: No. N2a: Two or three clinically occult nodal metastases (i.e., detected by sentinel lymph node biopsy). Presence of in-transit, satellite, and/or microsatellite metastases: No. M0: No evidence of distant metastasis. LDH level is not applicable. (AJCC 8th ed.)|NCI|N|
C4527187|Stage IIIC includes: (T0, N2b, N2c, N3b or N3c); (T1a-T3a, N2c or N3a/b/c, M0); (T3b/T4a, Any N greater than or equal to N1, M0); (T4b, N1a-N2c, M0). T0: No evidence of primary tumor (e.g., unknown primary or completely regressed melanoma). Thickness: Not applicable. Ulceration status: Not applicable. T1a: Tumor measuring less than 0.8 mm in thickness. Ulceration status: Without ulceration. T1b: Tumor measuring less than 0.8 mm in thickness with ulceration, or 0.8-1.0 mm with or without ulceration. T2a: Tumor measuring more than 1.0 and equal to or less than 2.0 mm in thickness. Ulceration status: Without ulceration. T2b: Tumor measuring more than 1.0 and equal to or less than 2.0 mm in thickness. Ulceration status: With ulceration. T3a: Tumor measuring more than 2.0 and equal to or less than 4.0 mm in thickness. Ulceration status: Without ulceration. T3b: Tumor measuring more than 2.0 and equal to or less than 4.0 mm in thickness. Ulceration status: With ulceration. T4a: Tumor measuring more than 4.0 mm in thickness. Ulceration status: Without ulceration. T4b: Tumor measuring more than 4.0 mm in thickness. Ulceration status: With ulceration. N2b: Two or three nodal metastases at least one of which was clinically detected. Presence of in-transit, satellite, and/or microsatellite metastases: No. N2c: One clinically occult nodal metastasis. Presence of in-transit, satellite, and/or microsatellite metastases: Yes. N3b: Four or more nodal metastases, at least one of which was clinically detected, or presence of any number of matted nodes. Presence of in-transit, satellite, and/or microsatellite metastases: No. N3c: Two or more clinically occult nodal metastases. Presence of in-transit, satellite, and/or microsatellite metastases: Yes. N3a: Four or more clinically occult nodal metastasis (i.e., detected by sentinel lymph node biopsy). Presence of in-transit, satellite, and/or microsatellite metastases: No. N1a: One clinically occult nodal metastasis (i.e., detected by sentinel lymph node biopsy). Presence of in-transit, satellite, and/or microsatellite metastases: No. N1b: One clinically detected nodal metastasis. Presence of in-transit, satellite, and/or microsatellite metastases: No. N1c: No regional lymph node disease. Presence of in-transit, satellite, and/or microsatellite metastases: Yes. N2a: Two or three clinically occult nodal metastases (i.e., detected by sentinel lymph node biopsy). Presence of in-transit, satellite, and/or microsatellite metastases: No. M0: No evidence of distant metastasis. LDH level is not applicable. (AJCC 8th ed.)|NCI|N|
C4527188|Breast carcinoma presenting with isolated axillary lymphadenopathy, without clinical or mammographic evidence of breast tumor.|NCI|N|
C4527189|Stage IIID includes: T4b, N3a/b/c, M0. T4b: Tumor measuring more than 4.0 mm in thickness. Ulceration status: With ulceration. N3a: Four or more clinically occult nodal metastasis (i.e., detected by sentinel lymph node biopsy). Presence of in-transit, satellite, and/or microsatellite metastases: No. N3b: Four or more nodal metastases, at least one of which was clinically detected, or presence of any number of matted nodes. Presence of in-transit, satellite, and/or microsatellite metastases: No. N3c: Two or more clinically occult nodal metastases. Presence of in-transit, satellite, and/or microsatellite metastases: Yes. M0: No evidence of distant metastasis. LDH level is not applicable. (AJCC 8th ed.)|NCI|N|
C4527190|Stage IV includes: Any T, Tis, Any N, M1. Tis: Melanoma in situ. Thickness: Not applicable. Ulceration status: Not applicable. M1: Evidence of distant metastasis. (AJCC 8th ed.)|NCI|N|
C4527195|A semi-quantitative microscopic finding indicating that less than 5 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.|NCI|N|
C4527206|A semi-quantitative microscopic finding indicating that 5 percent or less of the nucleated cells in a bone marrow sample are immature mononuclear cells.|NCI|N|
C4527217|Describes a tumor border that is invading the adjacent tissue.|NCI|N|
C4527218|An observation based on clinical, laboratory or molecular evidence, as it relates to conditions occurring in a non-human organism; this includes observations of evidence for organisms used in research settings.|NCI|N|
C4527219|A non-neoplastic disorder affecting a non-human organism; this includes disorders occurring in organisms used in research settings.|NCI|N|
C4527233|A finding indicating that a cellular sample has a functional loss of a protein involved in the DNA mismatch repair process.|NCI|N|
C4527236|An indication that sentinel lymph node mapping was attempted but that it did not identify a sentinel lymph node.|NCI|N|
C4527240|Breast lobular carcinoma in situ characterized by the presence of neoplastic large cells with marked nuclear pleomorphism.|NCI|N|
C4527251|Anal carcinoma that does not respond to treatment.|NCI|N|
C4527255|Pancreatic neuroendocrine carcinoma that does not respond to treatment.|NCI|N|
C4527302|A point mutation in the ALK gene that encodes an amino acid substitution in the ALK tyrosine kinase receptor protein.|NCI|N|
C4527303|A change in the sequence of one or more genes that are involved in the phosphatidylinositol 3 kinase (PI3K) and mammalian target of rapamycin (mTOR) signaling pathway.|NCI|N|
C4527324|The reemergence of B-cell lymphoma, unclassifiable, with features intermediate between diffuse large B-cell lymphoma and classic Hodgkin lymphoma after a period of remission.|NCI|N|
C4527325|B-cell lymphoma, unclassifiable, with features intermediate between diffuse large B-cell lymphoma and classic Hodgkin lymphoma that is resistant to treatment.|NCI|N|
C4527326|The reemergence of extranodal diffuse large B-cell lymphoma after a period of remission.|NCI|N|
C4527327|A mutation in the SMARCA4 gene that either inhibits expression of the SMARCA4 protein or results in the translation of an inactive SMARCA4 protein.|NCI|N|
C4527328|The reemergence of central nervous system lymphoma after a period of remission.|NCI|N|
C4527329|Central nervous system lymphoma that is resistant to treatment.|NCI|N|
C4527330|The reemergence of testicular lymphoma after a period of remission.|NCI|N|
C4527331|Testicular lymphoma that is resistant to treatment.|NCI|N|
C4527332|The reemergence of breast lymphoma after a period of remission.|NCI|N|
C4527333|Breast lymphoma that is resistant to treatment.|NCI|N|
C4527334|The reemergence of intravascular large B-cell lymphoma after a period of remission.|NCI|N|
C4527335|Intravascular large B-cell lymphoma that is resistant to treatment.|NCI|N|
C4527336|The reemergence of primary cutaneous diffuse large B-cell lymphoma, leg type after a period of remission.|NCI|N|
C4527337|Primary cutaneous diffuse large B-cell lymphoma, leg type that is resistant to treatment.|NCI|N|
C4527356|Aberrant activation of an ERBB family member-dependent signaling pathway.|NCI|N|
C4527358|A change in the nucleotide sequence of the ERBB4 gene.|NCI|N|
C4527362|A cytogenetic abnormality that refers to any translocation involving the FGFR2 gene.|NCI|N|
C4527363|A genetic finding indicating the presence of mutations in the cell-free DNA that is present in a peripheral blood sample.|NCI|N|
C4527364|A laboratory test result indicating the presence of an increased level of the tumor-associated antigen (TAA) CA19-9 in a biological sample.|NCI|N|
C4527366|A genetic finding indicating that low expression of the ASS1 gene has been detected in a sample.|NCI|N|
C4527372|A subjective response indicating that an individual never has or had an erection when they wanted one.|NCI|N|
C4527373|A subjective response indicating that an individual has or had an erection less than half the time when they wanted one.|NCI|N|
C4527374|A subjective response indicating that an individual has or had an erection about half the time when they wanted one.|NCI|N|
C4527376|A subjective response indicating that an individual has or had an erection whenever they wanted one.|NCI|N|
C4527377|A subjective response indicating that an individual did not use any absorbent pads per day.|NCI|N|
C4527378|A subjective response indicating that an individual uses or used one absorbent pad per day.|NCI|N|
C4527379|A subjective response indicating that an individual uses or used two absorbent pads per day.|NCI|N|
C4527380|A subjective response indicating that an individual uses or used three or more absorbent pads per day.|NCI|N|
C4527381|A subjective response indicating that an individual frequently dribbles urine.|NCI|N|
C4527382|A subjective response indicating that an individual occasionally dribbles urine.|NCI|N|
C4527383|A subjective response indicating that an individual has or had total urinary control.|NCI|N|
C4527391|A molecular abnormality indicating rearrangement of the DUSP22 gene.|NCI|N|
C4527400|A type of pulmonary nodule whose density obscures the underlying parenchyma and thus has a "solid" appearance.|HPO|N|
C4527401|Pulmonary subsolid nodules (SSNs) refer to pulmonary nodules with pure ground-glass nodules and part-solid ground-glass nodules. A ground-glass nodule (GGN) is the morphologic description of a pulmonary nodule category on thin-section chest computed tomography (CT). During the past decade, the natural history, management strategy and long-term prognosis in the case of GGNs have attracted attention.|HPO|N|
C4527402|Pure ground-glass pulmonary nodules (GGNs) are defined as focal nodular areas of increased lung attenuation through which lung parenchymal structures, such as the pulmonary vessels or bronchial structures, can be observed.|HPO|N|
C4527408|Indicates that a toxicity adverse effect has been experienced by a patient, but it is not severe enough for the patient to discontinue the treatment.|NCI|N|
C4527409|Indicates that a toxicity adverse effect has been experienced by a patient, and it is severe enough for the patient to discontinue the treatment.|NCI|N|
C4527410|Indicates that a toxicity adverse effect has been experienced during endocrine drug treatment.|NCI|N|
C4527413|Severe organ dysfunction as assessed by signs, symptoms and laboratory studies, resulting from rapid progression of neoplastic disease. It is indicative of substantial visceral compromise and may serve as an indication for more aggressive therapeutic intervention.|NCI|N|
C4527414|A header term that includes the following prostate carcinoma subtypes determined by gene expression profiling: luminal A prostate carcinoma, luminal B prostate carcinoma, and basal-like prostate carcinoma.|NCI|N|
C4527415|Prostate carcinoma associated with increased androgen receptor expression and signaling (androgen activity pathway), increased luminal markers, and a lower proliferation score than the luminal B and basal-like prostate carcinomas.|NCI|N|
C4527416|Prostate carcinoma associated with increased androgen receptor expression and signaling (androgen activity pathway), increased luminal markers, and a higher proliferation score than the luminal A prostate carcinoma. Patients with luminal B prostate carcinoma have the poorest prognosis but respond better to postoperative androgen deprivation therapy compared to patients with non-luminal B prostate carcinoma.|NCI|N|
C4527417|Prostate carcinoma in which the CD49f signature is increased, the luminal markers and androgen receptor expression and signaling (androgen activity pathway) are not increased, and the proliferation score is higher than the luminal A prostate carcinoma.|NCI|N|
C4527418|A cytogenetic abnormality that involves a translocation between chromosomes 11 and 18.|NCI|N|
C4527422|The reemergence of an abdominal neuroendocrine neoplasm after a period of remission.|NCI|N|
C4527423|An abdominal neuroendocrine neoplasm that does not respond to treatment.|NCI|N|
C4527424|A predominantly diffuse, low-grade follicular lymphoma. It often presents as a large localized inguinal mass, lacks BCL2 rearrangement, and is associated with 1p36 deletion.|NCI|N|
C4527429|A neoplastic lymphoid process characterized by the presence of cyclin D1 positive lymphoid cells, typically in the inner mantle zones of lymphoid tissue follicles, in cases that do not suggest the diagnosis of a mantle cell lymphoma. It is often found incidentally and has a low rate of progression.|NCI|N|
C4527432|A response indicating a very small amount.|NCI|N|
C4527433|A response indicating that an individual required assistance with registering.|NCI|N|
C4527434|A response indicating that an individual required assistance reading questions.|NCI|N|
C4527435|A response indicating that an individual required assistance entering answers.|NCI|N|
C4527436|A response indicating that an individual required assistance submitting a questionnaire.|NCI|N|
C4527438|A response indicating that an individual used their personal smartphone.|NCI|N|
C4527439|A response indicating that an individual used their personal tablet.|NCI|N|
C4527440|A response indicating that an individual used a tablet belonging to a healthcare clinic.|NCI|N|
C4527441|A response indicating that an individual used the smartphone belonging to a friend or family member.|NCI|N|
C4527442|Unprepared colon segment with mucosa not seen due to solid stool that cannot be cleared.|NCI|N|
C4527443|Portion of mucosa of the colon segment seen, but other areas of the colon segment not well seen due to staining, residual stool and/or opaque liquid.|NCI|N|
C4527444|Minor amount of residual staining, small fragments of stool and/or opaque liquid, but mucosa of colon segment seen well.|NCI|N|
C4527445|Entire mucosa of colon segment seen well with no residual staining, small fragments of stool or opaque liquid.|NCI|N|
C4527554|A large B-cell lymphoma characterized by the presence of a diffuse proliferation of large, atypical HHV8-positive neoplastic lymphocytes. It usually arises in association with HHV8-positive multicentric Castleman disease.|NCI|N|
C4527557|A response indicating that an individual required assistance getting started with an application.|NCI|N|
C4527558|A response indicating that an individual required assistance reading answers.|NCI|N|
C4527559|A response indicating that an individual required assistance reading questions and answers.|NCI|N|
C4527560|A response indicating that an individual used a paper form.|NCI|N|
C4528125|An insertion of the amino acid sequence glycine-valine between the aspartic acid at position 770 and the asparagine at position 771 of the epidermal growth factor receptor protein.|NCI|N|
C4528126|An insertion of the amino acid sequence alanine-serine-valine between the methionine at position 766 and the alanine at position 767 of the epidermal growth factor receptor protein.|NCI|N|
C4528127|An insertion of the amino acid sequence asparagine-proline between the proline at position 772 and the histidine at position 773 of the epidermal growth factor receptor protein.|NCI|N|
C4528128|An insertion of the amino acid sequence proline-histidine-valine between the proline at position 772 and the valine at position 774 of the epidermal growth factor receptor protein.|NCI|N|
C4528134|An insertion of six nucleotides, guanine-guanine-cytosine-adenine-cytosine-adenine, between position 2310 and 2311 of the coding sequence of the EGFR gene.|NCI|N|
C4528135|A response indicating than an individual has or had a severe decrease in their food intake.|NCI|N|
C4528136|A response indicating than an individual has or had a moderate decrease in their food intake.|NCI|N|
C4528137|An insertion of the amino acid sequence glycine-threonine between the aspartic acid at position 770 and the asparagine at position 771 of the epidermal growth factor receptor protein.|NCI|N|
C4528138|A response indicating than an individual has or had no decrease in their food intake.|NCI|N|
C4528139|A response indicating than an individual has or had weight loss exceeding 3 kilograms.|NCI|N|
C4528140|A response indicating than an individual has or had weight loss between 1 and 3 kilograms.|NCI|N|
C4528141|An insertion of six nucleotides, cytosine-cytosine-cytosine-adenine-cytosine-guanine, between position 2320 and 2321 of the coding sequence of the EGFR gene.|NCI|N|
C4528142|A response indicating than an individual has or had no weight loss.|NCI|N|
C4528143|A response indicating than an individual is or was bed or chair bound.|NCI|N|
C4528144|A response indicating than an individual is or was able to get out of bed or chair, but did or does not go out.|NCI|N|
C4528145|An insertion of the amino acid sequence alanine-histidine between the histidine at position 773 and the valine at position 774 of the epidermal growth factor receptor protein.|NCI|N|
C4528146|A response indicating than an individual is or was able to go out.|NCI|N|
C4528147|A response indicating than an individual has or had severe dementia or depression.|NCI|N|
C4528148|A response indicating than an individual has or had mild dementia or depression.|NCI|N|
C4528149|A response indicating than an individual has or had no psychological problems.|NCI|N|
C4528150|A response indicating than an individual is not or was not as good as others.|NCI|N|
C4528151|Indicates a body mass index measurement less than 19.|NCI|N|
C4528152|Indicates a body mass index measurement greater than or equal to 19 but below 21.|NCI|N|
C4528153|Indicates a body mass index measurement greater than or equal to 21 but below 23.|NCI|N|
C4528154|Indicates a body mass index measurement greater than or equal to 23.|NCI|N|
C4528175|A finding that indicates the amount of prostate specific antigen in a sample.|NCI|N|
C4528176|Myelodysplastic syndrome with more than 4.5 to 6 points, according to the revised International Prognostic Scoring System (IPSS-R).|NCI|N|
C4528177|The reemergence of high risk myelodysplastic syndrome after a period of remission.|NCI|N|
C4528181|A group of cells that exhibit some type of cytologic alteration resulting in basophilia, and that are confined to a specific area of the sample.|NCI|N|
C4528184|A score assigned to a biopsy sample indicating the relative amount of cells with glandular differentiation.|NCI|N|
C4528185|Greater than 75% of tumor area shows glandular/tubular structures.|NCI|N|
C4528186|10% to 75% of tumor area shows glandular/tubular structures.|NCI|N|
C4528187|Less than 10% of tumor area shows glandular/tubular structures.|NCI|N|
C4528188|Nuclei small with little increase in size in comparison with normal breast epithelial cells, regular outlines, uniform nuclear chromatin, little variation in size.|NCI|N|
C4528189|Cells larger than normal with open vesicular nuclei, visible nucleoli, and moderate variability in both size and shape.|NCI|N|
C4528190|Vesicular nuclei, often with prominent nucleoli, exhibiting marked variation in size and shape, occasionally with very large and highly unusual forms.|NCI|N|
C4528192|A finding of less than or equal to 3 mitoses per mm2 (less than or equal to 7 per 10 hpf).|NCI|N|
C4528193|A finding of greater than or equal to 8 mitoses per mm2 (greater than 15 per 10 hpf).|NCI|N|
C4528199|The cumulative score for the G-8 geriatric assessment, summing the individual scores from the 7 nutritional questions and the age question. The score ranges from 17 (not at all impaired) to 0 (heavily impaired). A score lower or equal to 14 requires comprehensive geriatric assessment.|NCI|N|
C4528201|A soft tissue sarcoma that does not respond to treatment.|NCI|N|
C4528203|A subset of node-based peripheral T-cell lymphomas with phenotypic features of T follicular helper (TFH) cells. This category includes angioimmunoblastic T-cell lymphomas, follicular T-cell lymphomas, and nodal peripheral T-cell lymphomas with T follicular helper phenotype.|NCI|N|
C4528206|A header term that refers to the staging of plasma cell myeloma according to the Durie/Salmon staging system.|NCI|N|
C4528207|A header term that refers to the staging of plasma cell myeloma according to the International Staging System.|NCI|N|
C4528208|An immunohistochemical finding indicating the presence of neoplastic lymphocytes manifesting a T follicular helper (TFH) phenotype.|NCI|N|
C4528209|A nodal peripheral T-cell non-Hodgkin lymphoma in which the neoplastic lymphocytes manifest a T follicular helper (TFH) cell phenotype. These lymphomas frequently show a diffuse infiltration pattern without a prominent polymorphic inflammatory background, vascular proliferation, or expansion of follicular dendritic cell meshworks. In some cases, a so-called T-zone pattern may be evident. (WHO 2017)|NCI|N|
C4528210|A rare anaplastic large cell lymphoma that can develop following breast implants. It has been reported in patients with saline-and silicone-filled implants. It usually presents as an accumulation of seroma fluid between the implant and the surrounding fibrous capsule. The median interval from the time of the implant to the development of lymphoma is approximately 10 years.|NCI|N|
C4528211|A lesion that develops in the breast tissue following breast implant placement.|NCI|N|
C4528212|A variant of lymphomatoid papulosis which mimics primary cutaneous aggressive epidermotropic CD8-positive cytotoxic T-cell lymphoma.|NCI|N|
C4528213|A variant of lymphomatoid papulosis characterized by the presence of atypical lymphocytes which exhibited distinct angioinvasion.|NCI|N|
C4528214|A cytogenetic abnormality indicating rearrangement of the 6p25.3 gene.|NCI|N|
C4528215|A variant of lymphomatoid papulosis associated with chromosomal rearrangements involving the DUSP22-IRF4 locus at 6p25.3.|NCI|N|
C4528218|A clonal T-cell lymphoproliferative disorder that can involve the mucosa in all sites of the gastrointestinal tract, but is most common in the small intestine and colon. The lymphoid cells infiltrate the lamina propria but usually do not show invasion of the epithelium. The clinical course is indolent, but most patients do not respond to conventional chemotherapy. A subset of cases progress to a higher-grade T-cell lymphoma with spread beyond the gastrointestinal tract. (WHO 2017)|NCI|N|
C4528219|A morphologic finding indicating the presence of a superficial monoclonal T-lymphocytic infiltrate in the gastrointestinal tract.|NCI|N|
C4528220|A cutaneous T-cell lymphoma presenting as an acral (peripheral) lesion. It was originally described as originating in the ear and is usually localized to a single site. It is composed of CD8-positive neoplastic T-lymphocytes. It has an indolent clinical course.|NCI|N|
C4528221|A lesion that arises in a peripheral site (e.g., limbs, fingers, or ears).|NCI|N|
C4528223|An early lesion of post-transplant lymphoproliferative disorder with the morphologic appearance of florid follicular hyperplasia.|NCI|N|
C4528224|A morphologic finding indicating the presence of prominent follicular hyperplasia in a lymph node sample.|NCI|N|
C4528225|A nodular lymphocyte predominant Hodgkin lymphoma (NLPHL) that has transformed, resembling T-cell/histiocyte-rich large B-cell lymphoma (THRLBCL).|NCI|N|
C4528229|The assessment of the severity of preductal aortic coarctation.|NCI|N|
C4528230|The assessment of the severity of juxta-ductal aortic coarctation.|NCI|N|
C4528231|The assessment of the severity of postductal aortic coarctation.|NCI|N|
C4528232|The qualitative measurement of the severity of the aortic coarctation.|NCI|N|
C4528237|The longitudinal displacement of a cardiac valve annulus toward the apex of the heart.|NCI|N|
C4528238|The greatest rate of increase in peak pressure during muscle contraction.|NCI|N|
C4528239|The peak velocity of the annular motion during ventricular systole.|NCI|N|
C4528241|The size of a pericardial effusion as assessed at the point of greatest separation between the parietal and visceral pericardia.|NCI|N|
C4528242|The measurement of the maximum separation between the parietal and visceral pericardia.|NCI|N|
C4528246|The cross-sectional diameter of a cardiovascular structure measured along its minor axis at mid ventricular systole.|NCI|N|
C4528247|The cross sectional diameter of a cardiovascular structure measured along its major axis at mid ventricular systole.|NCI|N|
C4528249|An estimation as to the cause of the pathology responsible for the cardiac valve regurgitation.|NCI|N|
C4528270|A fold change based on the concentration of a specific drug expected to produce 50 percent inhibition of population growth or replication of a microbial organism.|NCI|N|
C4528271|A fold change based on the concentration of a specific drug expected to produce 50 percent inhibition of the population growth or replication of a microbial organism; it is a ratio calculated by the EC50 Subject Result divided by the EC50 Reference Control Result.|NCI|N|
C4528274|A fold change based on the concentration of a specific drug expected to produce 50 percent inhibition on the enzymatic activity of a microbial organism; it is a ratio calculated by the current IC50 Subject Result divided by the IC50 Subject Result from the baseline visit.|NCI|N|
C4528275|A fold change based on the concentration of a specific drug expected to produce 50 percent inhibition on the enzymatic activity of a microbial organism; it is a ratio calculated by the IC50 Subject Result divided by the IC50 Reference Control Result.|NCI|N|
C4528287|A central point or locus characterized by hypertrophy and basophilia.|NCI|N|
C4528288|A decrease in the number of cells as compared to a standard or norm.|NCI|N|
C4528289|A decrease in the amount of bone tissue as compared to a standard or norm.|NCI|N|
C4528290|A term that refers to alterations in the dentin matrix. Causes include dentinogenesis imperfecta and hypophosphatemic rickets.|NCI|N|
C4528291|A finding indicating the formation of a dentin niche due to cellular alterations.|NCI|N|
C4528292|A decrease in the amount of dentin as compared to a standard or norm.|NCI|N|
C4528293|Accumulation of a mixed cell population of non-neoplastic mesenchymal cells along endosteal surfaces which may be associated with focal osteoclastic bone resorption and marrow fibroplasia. (INHAND)|NCI|N|
C4528294|A finding indicating that the epiphyseal plate is fully calcified.|NCI|N|
C4528295|An increase in the amount of osteoblastic surface as compared to a standard or norm.|NCI|N|
C4528296|An increase in the amount of unmineralized bone matrix as compared to a standard or norm.|NCI|N|
C4528297|A mass formed in the dental pulp due to local accumulation of a substance.|NCI|N|
C4528298|A decrease in the dimension between the two surfaces, in comparison to a standard or norm.|NCI|N|
C4528299|An increase in the dimension between the two surfaces, in comparison to a standard or norm.|NCI|N|
C4528300|A morphologic finding indicating the presence of a cellular infiltrate associated with fibrosis in a tissue sample.|NCI|N|
C4528301|The formation of an atherosclerotic plaque within the vascular wall.|NCI|N|
C4528302|A morphologic finding indicating the presence of necrosis associated with a cellular infiltrate in a tissue sample.|NCI|N|
C4528303|A finding indicating proliferation of the stromal valvular cells|NCI|N|
C4528341|The numerical value that represents the result of a clinical assessment of muscle strength and function during extension that is based on the Brooke Modified Medical Research Council Manual Muscle Test. (Brooke MH, Griggs RC, Mendell JR, Fenichel GM, et al. Clinical trial in Duchenne dystrophy. I. The design of the protocol. Muscle Nerve. 1981 May-Jun;4(3):186-97. doi:10.1002/mus.880040304).|NCI|N|
C4528342|The numerical value that represents the result of a clinical assessment of muscle strength and function during plantar flexion that is based on the Brooke Modified Medical Research Council Manual Muscle Test. (Brooke MH, Griggs RC, Mendell JR, Fenichel GM, et al. Clinical trial in Duchenne dystrophy. I. The design of the protocol. Muscle Nerve. 1981 May-Jun;4(3):186-97. doi:10.1002/mus.880040304).|NCI|N|
C4528343|The numerical value that represents the result of a clinical assessment of muscle strength and function during flexion that is based on the Brooke Modified Medical Research Council Manual Muscle Test. (Brooke MH, Griggs RC, Mendell JR, Fenichel GM, et al. Clinical trial in Duchenne dystrophy. I. The design of the protocol. Muscle Nerve. 1981 May-Jun;4(3):186-97. doi:10.1002/mus.880040304).|NCI|N|
C4528344|The numerical value that represents the result of a clinical assessment of muscle strength and function during abduction that is based on the Brooke Modified Medical Research Council Manual Muscle Test. (Brooke MH, Griggs RC, Mendell JR, Fenichel GM, et al. Clinical trial in Duchenne dystrophy. I. The design of the protocol. Muscle Nerve. 1981 May-Jun;4(3):186-97. doi:10.1002/mus.880040304).|NCI|N|
C4528345|The numerical value that represents the result of a clinical assessment of muscle strength and function during lateral rotation that is based on the Brooke Modified Medical Research Council Manual Muscle Test. (Brooke MH, Griggs RC, Mendell JR, Fenichel GM, et al. Clinical trial in Duchenne dystrophy. I. The design of the protocol. Muscle Nerve. 1981 May-Jun;4(3):186-97. doi:10.1002/mus.880040304).|NCI|N|
C4528346|The numerical value that represents the result of a clinical assessment of muscle strength and function during dorsiflexion that is based on the Brooke Modified Medical Research Council Manual Muscle Test. (Brooke MH, Griggs RC, Mendell JR, Fenichel GM, et al. Clinical trial in Duchenne dystrophy. I. The design of the protocol. Muscle Nerve. 1981 May-Jun;4(3):186-97. doi:10.1002/mus.880040304).|NCI|N|
C4528347|The numerical value that represents the result of a clinical assessment of muscle strength and function during inversion that is based on the Brooke Modified Medical Research Council Manual Muscle Test. (Brooke MH, Griggs RC, Mendell JR, Fenichel GM, et al. Clinical trial in Duchenne dystrophy. I. The design of the protocol. Muscle Nerve. 1981 May-Jun;4(3):186-97. doi:10.1002/mus.880040304).|NCI|N|
C4528348|The numerical value that represents the result of a clinical assessment of muscle strength and function during eversion that is based on the Brooke Modified Medical Research Council Manual Muscle Test. (Brooke MH, Griggs RC, Mendell JR, Fenichel GM, et al. Clinical trial in Duchenne dystrophy. I. The design of the protocol. Muscle Nerve. 1981 May-Jun;4(3):186-97. doi:10.1002/mus.880040304).|NCI|N|
C4528349|The numerical value that represents the result of a clinical assessment of muscle strength and function during extension that is based on the Medical Research Council Manual Muscle Test. (Medical Research Council. Aids to examination of the peripheral nervous system. Memorandum no. 45, superseding War Memorandum No. 7. London: Her Majesty''s Stationary Office; 1976. doi:10.1016/0022-510X(77)90205-2).|NCI|N|
C4528350|The numerical value that represents the result of a clinical assessment of muscle strength and function during plantar flexion that is based on the Medical Research Council Manual Muscle Test. (Medical Research Council. Aids to examination of the peripheral nervous system. Memorandum no. 45, superseding War Memorandum No. 7. London: Her Majesty''s Stationary Office; 1976. doi:10.1016/0022-510X(77)90205-2).|NCI|N|
C4528351|The numerical value that represents the result of a clinical assessment of muscle strength and function during flexion that is based on the Medical Research Council Manual Muscle. (Medical Research Council. Aids to examination of the peripheral nervous system. Memorandum no. 45, superseding War Memorandum No. 7. London: Her Majesty''s Stationary Office; 1976. doi:10.1016/0022-510X(77)90205-2).|NCI|N|
C4528352|The numerical value that represents the result of a clinical assessment of muscle strength and function during lateral rotation that is based on the Medical Research Council Manual Muscle Test. (Medical Research Council. Aids to examination of the peripheral nervous system. Memorandum no. 45, superseding War Memorandum No. 7. London: Her Majesty''s Stationary Office; 1976. doi:10.1016/0022-510X(77)90205-2).|NCI|N|
C4528353|The numerical value that represents the result of a clinical assessment of muscle strength and function during dorsiflexion that is based on the Medical Research Council Manual Muscle Test. (Medical Research Council. Aids to examination of the peripheral nervous system. Memorandum no. 45, superseding War Memorandum No. 7. London: Her Majesty''s Stationary Office; 1976. doi:10.1016/0022-510X(77)90205-2).|NCI|N|
C4528354|The numerical value that represents the result of a clinical assessment of muscle strength and function during inversion that is based on the Medical Research Council Manual Muscle Test. (Medical Research Council. Aids to examination of the peripheral nervous system. Memorandum no. 45, superseding War Memorandum No. 7. London: Her Majesty''s Stationary Office; 1976. doi:10.1016/0022-510X(77)90205-2).|NCI|N|
C4528355|The numerical value that represents the result of a clinical assessment of muscle strength and function during eversion that is based on the Medical Research Council Manual Muscle Test. (Medical Research Council. Aids to examination of the peripheral nervous system. Memorandum no. 45, superseding War Memorandum No. 7. London: Her Majesty''s Stationary Office; 1976. doi:10.1016/0022-510X(77)90205-2).|NCI|N|
C4528356|An indication that the subject has not been able to meet protocol-defined continuation criteria and will not continue to participate in the clinical trial.|NCI|N|
C4528357|An indication that the subject was randomized but should not have been.|NCI|N|
C4528358|An indication that the subject was randomized but should not have been, and was subsequently given study treatment.|NCI|N|
C4528359|An indication that the subject was randomized but should not have been, and was subsequently not given study treatment.|NCI|N|
C4528360|An indication that a subject has not agreed with, or followed the instructions related to, the non-study device.|NCI|N|
C4528361|An indication that a subject has not agreed with, or followed the instructions related to, the study device.|NCI|N|
C4528385|A measurement of the total number of live birth events at which the gestational age of the neonate is 39 weeks and 0 days through 40 weeks and 6 days.|NCI|N|
C4528386|A measurement of the total number of live birth events at which the gestational age of the neonate is less than 37 weeks and 0 days.|NCI|N|
C4528389|The conditions under which an organ is harvested from a dead donor, including the condition of the donor and the environment.|NCI|N|
C4528403|The state or condition of a subject''s microsatellite sequences with respect to the inability of their mismatch repair (MMR) proteins to fix a DNA replication error.|NCI|N|
C4528404|A response indicating that an individual used a tablet belonging to a friend or family member.|NCI|N|
C4528405|An EBV-positive peripheral T-cell lymphoma that arises from the lymph nodes. It is characterized by a monomorphic pattern of infiltration and abscence of the angiodestruction and necrosis seen in extranodal NK/T-cell lymphomas. These lymphomas are more common in elderly patient, or in the setting of immune deficiency. For the time being, they are considered a variant of peripheral T-cell lymphoma, not otherwise specified. (WHO 2017)|NCI|N|
C4528406|A morphologic finding indicating the presence of acinar and tubular differentiation in a tissue sample of an epithelial neoplasm.|NCI|N|
C4528407|A molecular abnormality indicating rearrangement of the TP63 gene.|NCI|N|
C4528408|A head and neck squamous cell carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C4528411|The total score for myelodysplastic syndrome progression that considers the percentage of blasts in bone marrow (scored on a scale from zero to 2), chromosome abnormalities (scored from zero to 1), and the patient''s blood counts (scored as zero or 0.5).|NCI|N|
C4528413|An International Prognostic Scoring System for Myelodysplastic Syndrome risk score of 0, corresponding to low risk.|NCI|N|
C4528414|An International Prognostic Scoring System for Myelodysplastic Syndrome risk score of 0.5 to 1.0, corresponding to intermediate-1 risk.|NCI|N|
C4528415|An International Prognostic Scoring System for Myelodysplastic Syndrome risk score of 1.5-2.0, corresponding to intermediate-2 risk.|NCI|N|
C4528423|A finding about one or more characteristics of breast cancer, following the rules of the TNM AJCC v8 classification system. This classification system applies to invasive (infiltrating) carcinoma of the breast and ductal carcinoma in situ of the breast. It does not apply to breast sarcoma, phyllodes tumor, and breast lymphoma. (from AJCC 8th Ed.)|NCI|N|
C4528424|A clinical finding about one or more characteristics of breast cancer, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4528425|A clinical finding about one or more characteristics of breast cancer, following the rules of the TNM AJCC v8 classification system as they pertain to distant metastases.|NCI|N|
C4528426|Breast cancer without clinical or radiographic evidence of distant metastases. Imaging studies are not required to assign the cM0 category. (from AJCC 8th Ed.)|NCI|N|
C4528427|Breast cancer in which there is no clinical or radiographic evidence of distant metastases in the presence of tumor cells or deposits no larger than 0.2 mm detected microscopically or by molecular techniques in circulating blood, bone marrow, or other nonregional nodal tissue in a patient without symptoms or signs of metastases. (from AJCC 8th Ed.)|NCI|N|
C4528428|Breast cancer with distant metastases detected by clinical and radiographic means and/or histologically proven metastases larger than 0.2 mm. (from AJCC 8th Ed.)|NCI|N|
C4528429|A clinical finding about one or more characteristics of breast cancer, following the rules of the TNM AJCC v8 classification system as they pertain to staging of regional lymph nodes.|NCI|N|
C4528430|Breast cancer in which regional lymph nodes cannot be assessed (e.g., previously removed). The cNX category is used sparingly in cases where regional lymph nodes have previously been surgically removed or where there is no documentation of physical examination of the axilla. (from AJCC 8th Ed.)|NCI|N|
C4528431|Breast cancer with no regional lymph node metastases (by imaging or clinical examination). (from AJCC 8th Ed.)|NCI|N|
C4528432|Breast cancer with metastasis to movable ipsilateral level I, II axillary lymph node(s). (from AJCC 8th Ed.)|NCI|N|
C4528433|Breast cancer with micrometastases (approximately 200 cells, larger than 0.2 mm, but none larger than 2.0 mm). cN1mi is rarely used but may be appropriate in cases where sentinel node biopsy is performed before tumor resection, most likely to occur in cases treated with neoadjuvant therapy. (from AJCC 8th Ed.)|NCI|N|
C4528434|Breast cancer with metastases in ipsilateral level I, II axillary lymph nodes that are clinically fixed or matted; or in ipsilateral internal mammary nodes in the absence of axillary lymph node metastases. (from AJCC 8th Ed.)|NCI|N|
C4528435|Breast cancer with metastases in ipsilateral level I, II axillary lymph nodes fixed to one another (matted) or to other structures. (from AJCC 8th Ed.)|NCI|N|
C4528436|Breast cancer with metastases only in ipsilateral internal mammary nodes in the absence of axillary lymph node metastases. (from AJCC 8th Ed.)|NCI|N|
C4528437|Breast cancer with metastases in ipsilateral infraclavicular (level III axillary) lymph node(s) with or without level I, II axillary lymph node involvement; or in ipsilateral internal mammary lymph node(s) with level I, II axillary lymph node metastases; or metastases in ipsilateral supraclavicular lymph node(s) with or without axillary or internal mammary lymph node involvement. (from AJCC 8th Ed.)|NCI|N|
C4528438|Breast cancer with metastases in ipsilateral infraclavicular lymph node(s). (from AJCC 8th Ed.)|NCI|N|
C4528439|Breast cancer with metastases in ipsilateral internal mammary lymph node(s) and axillary lymph node(s). (from AJCC 8th Ed.)|NCI|N|
C4528440|Breast cancer with metastases in ipsilateral supraclavicular lymph node(s). (from AJCC 8th Ed.)|NCI|N|
C4528441|A pathologic finding about one or more characteristics of breast cancer, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4528442|A pathologic finding about one or more characteristics of breast cancer, following the rules of the TNM AJCC v8 classification system as they pertain to distant metastases.|NCI|N|
C4528443|Breast cancer with distant metastases detected by clinical and radiographic means and/or histologically proven metastases larger than 0.2 mm. (from AJCC 8th Ed.)|NCI|N|
C4528444|A pathologic finding about one or more characteristics of breast cancer, following the rules of the TNM AJCC v8 classification system as they pertain to staging of the primary tumor. Lobular carcinoma in situ (LCIS) is a benign entity and is removed from TNM staging in the AJCC Cancer Staging Manual, 8th Edition. (from AJCC 8th Ed.)|NCI|N|
C4528445|Breast cancer in which the primary tumor cannot be assessed. (from AJCC 8th Ed.)|NCI|N|
C4528446|Breast cancer with no evidence of primary tumor. (from AJCC 8th Ed.)|NCI|N|
C4528447|Breast cancer with a finding of ductal carcinoma in situ. Lobular carcinoma in situ (LCIS) is a benign entity and is removed from TNM staging in the AJCC Cancer Staging Manual, 8th Edition. (from AJCC 8th Ed.)|NCI|N|
C4528448|Paget disease of the nipple not associated with invasive carcinoma and/or carcinoma in situ (DCIS) in the underlying breast parenchyma. Carcinomas in the breast parenchyma associated with Paget disease are categorized based on the size and characteristics of the parenchymal disease, although the presence of Paget disease should still be noted. (from AJCC 8th Ed.)|NCI|N|
C4528449|Breast cancer with tumor size 20 mm or less in greatest dimension. (from AJCC 8th Ed.)|NCI|N|
C4528450|Breast cancer with tumor size 1 mm or less in greatest dimension. (from AJCC 8th Ed.)|NCI|N|
C4528451|Breast cancer with tumor size more than 1 mm, but not more than 5 mm in greatest dimension (round any measurement 1.0-1.9 mm to 2 mm). (from AJCC 8th Ed.)|NCI|N|
C4528452|Breast cancer with tumor size more than 5 mm, but not more than 10 mm in greatest dimension. (from AJCC 8th Ed.)|NCI|N|
C4528453|Breast cancer with tumor size more than 10 mm, but not more than 20 mm in greatest dimension. (from AJCC 8th Ed.)|NCI|N|
C4528454|Breast cancer with tumor size more than 20 mm, but not more than 50 mm in greatest dimension. (from AJCC 8th Ed.)|NCI|N|
C4528455|Breast cancer with tumor size more than 50 mm in greatest dimension. (from AJCC 8th Ed.)|NCI|N|
C4528456|Breast cancer with tumor of any size with direct extension to the chest wall and/or to the skin (ulceration or macroscopic nodules); invasion of the dermis alone does not qualify as T4. (from AJCC 8th Ed.)|NCI|N|
C4528457|Breast cancer with extension to the chest wall; invasion or adherence to pectoralis muscle in the absence of invasion of chest wall structures does not qualify as T4. (from AJCC 8th Ed.)|NCI|N|
C4528458|Breast cancer with ulceration and/or ipsilateral macroscopic satellite nodules and/or edema (including peau d''orange) of the skin that does not meet the criteria for inflammatory carcinoma. (from AJCC 8th Ed.)|NCI|N|
C4528459|Breast cancer in which both T4a and T4b are present. (from AJCC 8th Ed.)|NCI|N|
C4528460|Breast cancer meeting the criteria of inflammatory carcinoma. (from AJCC 8th Ed.)|NCI|N|
C4528461|A pathologic finding about one or more characteristics of breast cancer, following the rules of the TNM AJCC v8 classification system as they pertain to staging of regional lymph nodes.|NCI|N|
C4528462|Breast cancer in which regional lymph nodes cannot be assessed (e.g., not removed for pathological study or previously removed). (from AJCC 8th Ed.)|NCI|N|
C4528463|Breast cancer with ITCs only (malignant cell clusters no larger than 0.2 mm) in regional lymph node(s). (from AJCC 8th Ed.)|NCI|N|
C4528464|Breast cancer with positive molecular findings by reverse transcriptase polymerase chain reaction (RT-PCR); no ITCs detected. (from AJCC 8th Ed.)|NCI|N|
C4528465|Breast cancer with micrometastases; or metastases in 1-3 axillary lymph nodes; and/or clinically negative internal mammary nodes with micrometastases or macrometastases by sentinel lymph node biopsy. (from AJCC 8th Ed.)|NCI|N|
C4528466|Breast cancer with micrometastases (approximately 200 cells, larger than 0.2 mm, but none larger than 2.0 mm). (from AJCC 8th Ed.)|NCI|N|
C4528467|Breast cancer with metastases in 1-3 axillary lymph nodes, at least one metastasis larger than 2.0 mm. (from AJCC 8th Ed.)|NCI|N|
C4528468|Breast cancer with metastases in ipsilateral internal mammary sentinel nodes, excluding ITCs. (from AJCC 8th Ed.)|NCI|N|
C4528469|Breast cancer with pN1a and pN1b combined. (from AJCC 8th Ed.)|NCI|N|
C4528470|Breast cancer with metastases in 4-9 axillary lymph nodes; or positive ipsilateral internal mammary lymph nodes by imaging in the absence of axillary lymph node metastases. (from AJCC 8th Ed.)|NCI|N|
C4528471|Breast cancer with metastasis in 4-9 axillary lymph nodes (at least one tumor deposit larger than 2.0 mm). (from AJCC 8th Ed.)|NCI|N|
C4528472|Breast cancer with metastases in clinically detected internal mammary lymph nodes with or without microscopic confirmation; with pathologically negative axillary nodes. (from AJCC 8th Ed.)|NCI|N|
C4528473|Breast cancer with metastases in 10 or more axillary lymph nodes; or in infraclavicular (level III axillary) lymph nodes; or positive ipsilateral internal mammary lymph nodes by imaging in the presence of one or more positive level I, II axillary lymph nodes; or in more than three axillary lymph nodes and micrometastases or macrometastases by sentinel lymph node biopsy in clinically negative ipsilateral internal mammary lymph nodes; or in ipsilateral supraclavicular lymph nodes. (from AJCC 8th Ed.)|NCI|N|
C4528474|Breast cancer with metastases in 10 or more axillary lymph nodes (at least one tumor deposit larger than 2.0 mm); or metastases to the infraclavicular (level III axillary) lymph nodes. (from AJCC 8th Ed.)|NCI|N|
C4528475|Breast cancer with pN1a or pN2a in the presence of cN2b (positive internal mammary nodes by imaging); or pN2a in the presence of pN1b. (from AJCC 8th Ed.)|NCI|N|
C4528476|Breast cancer with metastases in ipsilateral supraclavicular lymph nodes. (from AJCC 8th Ed.)|NCI|N|
C4528545|A response indicating that an individual used a smartphone or tablet belonging to a friend or family member.|NCI|N|
C4528546|A response indicating that an individual required assistance with installing the app.|NCI|N|
C4528547|A response indicating that an individual required assistance with logging in.|NCI|N|
C4528548|A term that refers to the staging of breast cancer, following the rules of the TNM AJCC v8 classification system. It applies to invasive (infiltrating) carcinoma of the breast and ductal carcinoma in situ of the breast. It does not apply to breast sarcoma, phyllodes tumor, and breast lymphoma. (from AJCC 8th Ed.)|NCI|N|
C4528549|A term that refers to the staging of breast cancer, following the rules of the TNM AJCC v8 classification system. This staging system should only be used in global regions where biomarker tests are not routinely available. (from AJCC 8th Ed.)|NCI|N|
C4528550|Stage 0 includes: Tis, N0, M0. Tis: Ductal carcinoma in situ. Lobular carcinoma in situ is a benign entity and is removed from TNM staging in the AJCC Cancer Staging Manual, 8th Edition. N0: No regional lymph node metastasis is identified or isolated tumor cell clusters (ITCs) are identified only. M0: No clinical or radiographic evidence of distant metastases. Imaging studies are not required to assign the M0 category. (AJCC 8th ed.)|NCI|N|
C4528551|Stage I includes: IA: (T1, N0, M0); IB: (T0, N1mi, M0); (T1, N1mi, M0). T0: No evidence of primary tumor. T1: Tumor measuring 20 mm or less in greatest dimension. N0: No regional lymph node metastasis is identified or isolated tumor cell clusters (ITCs) are identified only. N1mi: Tumor with micrometastases (approximately 200 cells, larger than 0.2 mm, but none larger than 2.0 mm). M0: No clinical or radiographic evidence of distant metastases. Imaging studies are not required to assign the M0 category. (AJCC 8th ed.)|NCI|N|
C4528552|Stage IA includes: T1, N0, M0. T1: Tumor measuring 20 mm or less in greatest dimension. N0: No regional lymph node metastasis is identified or isolated tumor cell clusters (ITCs) are identified only. M0: No clinical or radiographic evidence of distant metastases. Imaging studies are not required to assign the M0 category. (AJCC 8th ed.)|NCI|N|
C4528553|Stage IB includes: (T0, N1mi, M0); (T1, N1mi, M0). T0: No evidence of primary tumor. T1: Tumor measuring 20 mm or less in greatest dimension. N1mi: Tumor with micrometastases (approximately 200 cells, larger than 0.2 mm, but none larger than 2.0 mm). M0: No clinical or radiographic evidence of distant metastases. Imaging studies are not required to assign the M0 category. (AJCC 8th ed.)|NCI|N|
C4528554|Stage II includes: IIA: (T0, N1, M0); (T1, N1, M0); (T2, N0, M0); IIB: (T2, N1, M0); (T3, N0, M0). T0: No evidence of primary tumor. T1: Tumor measuring 20 mm or less in greatest dimension. T2: Tumor measuring more than 20 mm, but not more than 50 mm in greatest dimension. T3: Tumor measuring more than 50 mm in greatest dimension. N0: No regional lymph node metastasis is identified or isolated tumor cell clusters (ITCs) are identified only. N1: Tumor with micrometastases; or metastases in 1-3 axillary lymph nodes; and/or clinically negative internal mammary nodes with micrometastases or macrometastases by sentinel lymph node biopsy. M0: No clinical or radiographic evidence of distant metastases. Imaging studies are not required to assign the M0 category. (AJCC 8th ed.)|NCI|N|
C4528555|Stage IIA includes: (T0, N1, M0); (T1, N1, M0); (T2, N0, M0). T0: No evidence of primary tumor. T1: Tumor measuring 20 mm or less in greatest dimension. T2: Tumor measuring more than 20 mm, but not more than 50 mm in greatest dimension. N0: No regional lymph node metastasis is identified or isolated tumor cell clusters (ITCs) are identified only. N1: Tumor with micrometastases; or metastases in 1-3 axillary lymph nodes; and/or clinically negative internal mammary nodes with micrometastases or macrometastases by sentinel lymph node biopsy. M0: No clinical or radiographic evidence of distant metastases. Imaging studies are not required to assign the M0 category. (AJCC 8th ed.)|NCI|N|
C4528556|Stage IIB includes: (T2, N1, M0); (T3, N0, M0). T2: Tumor measuring more than 20 mm, but not more than 50 mm in greatest dimension. T3: Tumor measuring more than 50 mm in greatest dimension. N0: No regional lymph node metastasis is identified or isolated tumor cell clusters (ITCs) are identified only. N1: Tumor with micrometastases; or metastases in 1-3 axillary lymph nodes; and/or clinically negative internal mammary nodes with micrometastases or macrometastases by sentinel lymph node biopsy. M0: No clinical or radiographic evidence of distant metastases. Imaging studies are not required to assign the M0 category. (AJCC 8th ed.)|NCI|N|
C4528557|Stage III includes: IIIA: (T0, N2, M0); (T1, N2, M0); (T2, N2, M0); (T3, N1, M0); (T3, N2, M0); IIIB: (T4, N0, M0); (T4, N1, M0); (T4, N2, M0); IIIC: (Any T, N3, M0). T0: No evidence of primary tumor. T1: Tumor measuring 20 mm or less in greatest dimension. T2: Tumor measuring more than 20 mm, but not more than 50 mm in greatest dimension. T3: Tumor measuring more than 50 mm in greatest dimension. T4: Tumor of any size with direct extension to the chest wall and/or to the skin (ulceration or macroscopic nodules); invasion of the dermis alone does not qualify as T4. N0: No regional lymph node metastasis is identified or isolated tumor cell clusters (ITCs) are identified only. N1: Tumor with micrometastases; or metastases in 1-3 axillary lymph nodes; and/or clinically negative internal mammary nodes with micrometastases or macrometastases by sentinel lymph node biopsy. N2: Tumor with metastases in 4-9 axillary lymph nodes; or positive ipsilateral internal mammary lymph nodes by imaging in the absence of axillary lymph node metastases. N3: Tumor with metastases in 10 or more axillary lymph nodes; or in infraclavicular (level III axillary) lymph nodes; or positive ipsilateral internal mammary lymph nodes by imaging in the presence of one or more positive level I, II axillary lymph nodes; or in more than three axillary lymph nodes and micrometastases or macrometastases by sentinel lymph node biopsy in clinically negative ipsilateral internal mammary lymph nodes; or in ipsilateral supraclavicular lymph nodes. M0: No clinical or radiographic evidence of distant metastases. Imaging studies are not required to assign the M0 category. (AJCC 8th ed.)|NCI|N|
C4528558|Stage IIIA includes: (T0, N2, M0); (T1, N2, M0); (T2, N2, M0); (T3, N1, M0); (T3, N2, M0). T0: No evidence of primary tumor. T1: Tumor measuring 20 mm or less in greatest dimension. T2: Tumor measuring more than 20 mm, but not more than 50 mm in greatest dimension. T3: Tumor measuring more than 50 mm in greatest dimension. N1: Tumor with micrometastases; or metastases in 1-3 axillary lymph nodes; and/or clinically negative internal mammary nodes with micrometastases or macrometastases by sentinel lymph node biopsy. N2: Tumor with metastases in 4-9 axillary lymph nodes; or positive ipsilateral internal mammary lymph nodes by imaging in the absence of axillary lymph node metastases. M0: No clinical or radiographic evidence of distant metastases. Imaging studies are not required to assign the M0 category. (AJCC 8th ed.)|NCI|N|
C4528559|Stage IIIB includes: (T4, N0, M0); (T4, N1, M0); (T4, N2, M0). T4: Tumor of any size with direct extension to the chest wall and/or to the skin (ulceration or macroscopic nodules); invasion of the dermis alone does not qualify as T4. N0: No regional lymph node metastasis is identified or isolated tumor cell clusters (ITCs) are identified only. N1: Tumor with micrometastases; or metastases in 1-3 axillary lymph nodes; and/or clinically negative internal mammary nodes with micrometastases or macrometastases by sentinel lymph node biopsy. N2: Tumor with metastases in 4-9 axillary lymph nodes; or positive ipsilateral internal mammary lymph nodes by imaging in the absence of axillary lymph node metastases. M0: No clinical or radiographic evidence of distant metastases. Imaging studies are not required to assign the M0 category. (AJCC 8th ed.)|NCI|N|
C4528560|Stage IIIC includes: Any T, N3, M0. N3: Tumor with metastases in 10 or more axillary lymph nodes; or in infraclavicular (level III axillary) lymph nodes; or positive ipsilateral internal mammary lymph nodes by imaging in the presence of one or more positive level I, II axillary lymph nodes; or in more than three axillary lymph nodes and micrometastases or macrometastases by sentinel lymph node biopsy in clinically negative ipsilateral internal mammary lymph nodes; or in ipsilateral supraclavicular lymph nodes. M0: No clinical or radiographic evidence of distant metastases. Imaging studies are not required to assign the M0 category. (AJCC 8th ed.)|NCI|N|
C4528561|Stage IV includes: Any T, Any N, M1. M1: Distant metastases detected by clinical and radiographic means and/or histologically proven metastases larger than 0.2 mm. (AJCC 8th ed.)|NCI|N|
C4528562|A benign epithelial-stromal neoplasm that arises from the anus and resembles the breast fibroadenoma.|NCI|N|
C4528563|A benign epithelial-stromal neoplasm that arises from the perineum and resembles the breast fibroadenoma.|NCI|N|
C4528564|A benign composite neoplasm that arises from the vulva and is characterized by mixed histopathologic features of hidradenoma papilliferum and fibroadenoma.|NCI|N|
C4528569|A term that refers to the staging of breast cancer, following the rules of the TNM AJCC v8 classification system. This staging system should be used in countries where HER2, ER, and PR biomarker tests are routinely performed for patient care (U.S., Canada, etc.). (from AJCC 8th Ed.)|NCI|N|
C4528570|Stage 0 includes: Tis, N0, M0, G1-3, HER2 Status: Any, ER Status: Any, PR Status: Any. Tis: Ductal carcinoma in situ. Lobular carcinoma in situ is a benign entity and is removed from TNM staging in the AJCC Cancer Staging Manual, 8th Edition. N0: No regional lymph node metastasis is identified or isolated tumor cell clusters (ITCs) are identified only. G1: Low combined histologic grade (favorable); SBR score of 3-5 points. G2: Intermediate combined histologic grade (moderately favorable); SBR score: 6-7 points. G3: High combined histologic grade (unfavorable); SBR score of 8-9 points. M0: No clinical or radiographic evidence of distant metastases. Imaging studies are not required to assign the M0 category. (AJCC 8th ed.)|NCI|N|
C4528571|Stage I includes: IA: (T1, N0, M0, G1, HER2 Status: Positive, ER Status: Any, PR Status: Any); (T1, N0, M0, G1-2, HER2 Status: Negative, ER Status: Positive, PR Status: Positive); (T1, N0, M0, G2, HER2 Status: Positive, ER Status: Positive, PR Status: Positive); (T1, N0, M0, G3, HER2 Status: Positive, ER Status: Positive, PR Status: Any); (T0-1, N1mi, M0, G1, HER2 Status: Positive, ER Status: Any, PR Status: Any); (T0-1, N1mi, M0, G1-2, HER2 Status: Negative, ER Status: Positive, PR Status: Positive); (T0-1, N1mi, M0, G2, HER2 Status: Positive, ER Status: Positive, PR Status: Positive); (T0-1, N1mi, M0, G3, HER2 Status: Positive, ER Status: Positive, PR Status: Any); (MultiGene Panel-Oncotype Dx Recurrence Score Less Than 11, T1-2, N0, M0, G1-3, HER2 Status: Negative, ER Status: Positive, PR Status: Any); IB: (T1, N0, M0, G1, HER2 Status: Negative, ER Status: Positive, PR Status: Negative); (T1, N0, M0, G1, HER2 Status: Negative, ER Status: Negative, PR Status: Positive); (T1, N0, M0, G2, HER2 Status: Positive, ER Status: Positive, PR Status: Negative); (T1, N0, M0, G2, HER2 Status: Positive, ER Status: Negative, PR Status: Any); (T1, N0, M0, G2, HER2 Status: Negative, ER Status: Negative, PR Status: Positive); (T1, N0, M0, G3, HER2 Status: Positive, ER Status: Negative, PR Status: Any); (T1, N0, M0, G3, HER2 Status: Negative, ER Status: Positive, PR Status: Positive); (T0-1, N1mi, M0, G1, HER2 Status: Negative, ER Status: Positive, PR Status: Negative); (T0-1, N1mi, M0, G1, HER2 Status: Negative, ER Status: Negative, PR Status: Positive); (T0-1, N1mi, M0, G2, HER2 Status: Positive, ER Status: Positive, PR Status: Negative); (T0-1, N1mi, M0, G2, HER2 Status: Positive, ER Status: Negative, PR Status: Any); (T0-1, N1mi, M0, G2, HER2 Status: Negative, ER Status: Negative, PR Status: Positive); (T0-1, N1mi, M0, G3, HER2 Status: Positive, ER Status: Negative, PR Status: Any); (T0-1, N1mi, M0, G3, HER2 Status: Negative, ER Status: Positive, PR Status: Positive); (T2, N0, M0, G1-3, HER2 Status: Positive, ER Status: Positive, PR Status: Positive); (T2, N0, M0, G1-2, HER2 Status: Negative, ER Status: Positive, PR Status: Positive); (T1, N1, M0, G1-3, HER2 Status: Positive, ER Status: Positive, PR Status: Positive); (T1, N1, M0, G1-2, HER2 Status: Negative, ER Status: Positive, PR Status: Positive); (T2, N1, M0, G1, HER2 Status: Negative, ER Status: Positive, PR Status: Positive); (T2, N1, M0, G2, HER2 Status: Positive, ER Status: Positive, PR Status: Positive); (T0-2, N2, M0, G1-2, HER2 Status: Positive, ER Status: Positive, PR Status: Positive); (T3, N1-2, M0, G1, HER2 Status: Positive, ER Status: Positive, PR Status: Positive); (T3, N1-2, M0, G2, HER2 Status: Positive, ER Status: Positive, PR Status: Positive). T0: No evidence of primary tumor. T1: Tumor measuring 20 mm or less in greatest dimension. T2: Tumor measuring more than 20 mm, but not more than 50 mm in greatest dimension. T3: Tumor measuring more than 50 mm in greatest dimension. N0: No regional lymph node metastasis is identified or isolated tumor cell clusters (ITCs) are identified only. N1: Tumor with micrometastases; or metastases in 1-3 axillary lymph nodes; and/or clinically negative internal mammary nodes with micrometastases or macrometastases by sentinel lymph node biopsy. N1mi: Micrometastases (approximately 200 cells, larger than 0.2 mm, but none larger than 2.0 mm). N2: Tumor with metastases in 4-9 axillary lymph nodes; or positive ipsilateral internal mammary lymph nodes by imaging in the absence of axillary lymph node metastases. G1: Low combined histologic grade (favorable); SBR score of 3-5 points. G2: Intermediate combined histologic grade (moderately favorable); SBR score: 6-7 points. G3: High combined histologic grade (unfavorable); SBR score of 8-9 points. M0: No clinical or radiographic evidence of distant metastases. Imaging studies are not required to assign the M0 category. (AJCC 8th ed.)|NCI|N|
C4528572|Stage IA includes: (T1, N0, M0, G1, HER2 Status: Positive, ER Status: Any, PR Status: Any); (T1, N0, M0, G1-2, HER2 Status: Negative, ER Status: Positive, PR Status: Positive); (T1, N0, M0, G2, HER2 Status: Positive, ER Status: Positive, PR Status: Positive); (T1, N0, M0, G3, HER2 Status: Positive, ER Status: Positive, PR Status: Any); (T0-1, N1mi, M0, G1, HER2 Status: Positive, ER Status: Any, PR Status: Any); (T0-1, N1mi, M0, G1-2, HER2 Status: Negative, ER Status: Positive, PR Status: Positive); (T0-1, N1mi, M0, G2, HER2 Status: Positive, ER Status: Positive, PR Status: Positive); (T0-1, N1mi, M0, G3, HER2 Status: Positive, ER Status: Positive, PR Status: Any); (MultiGene Panel-Oncotype Dx Recurrence Score Less Than 11, T1-2, N0, M0, G1-3, HER2 Status: Negative, ER Status: Positive, PR Status: Any). T0: No evidence of primary tumor. T1: Tumor measuring 20 mm or less in greatest dimension. T2: Tumor measuring more than 20 mm, but not more than 50 mm in greatest dimension. N0: No regional lymph node metastasis is identified or isolated tumor cell clusters (ITCs) are identified only. N1mi: Micrometastases (approximately 200 cells, larger than 0.2 mm, but none larger than 2.0 mm). G1: Low combined histologic grade (favorable); SBR score of 3-5 points. G2: Intermediate combined histologic grade (moderately favorable); SBR score: 6-7 points. G3: High combined histologic grade (unfavorable); SBR score of 8-9 points. M0: No clinical or radiographic evidence of distant metastases. Imaging studies are not required to assign the M0 category. (AJCC 8th ed.)|NCI|N|
C4528573|Stage IB includes: (T1, N0, M0, G1, HER2 Status: Negative, ER Status: Positive, PR Status: Negative); (T1, N0, M0, G1, HER2 Status: Negative, ER Status: Negative, PR Status: Positive); (T1, N0, M0, G2, HER2 Status: Positive, ER Status: Positive, PR Status: Negative); (T1, N0, M0, G2, HER2 Status: Positive, ER Status: Negative, PR Status: Any); (T1, N0, M0, G2, HER2 Status: Negative, ER Status: Negative, PR Status: Positive); (T1, N0, M0, G3, HER2 Status: Positive, ER Status: Negative, PR Status: Any); (T1, N0, M0, G3, HER2 Status: Negative, ER Status: Positive, PR Status: Positive); (T0-1, N1mi, M0, G1, HER2 Status: Negative, ER Status: Positive, PR Status: Negative); (T0-1, N1mi, M0, G1, HER2 Status: Negative, ER Status: Negative, PR Status: Positive); (T0-1, N1mi, M0, G2, HER2 Status: Positive, ER Status: Positive, PR Status: Negative); (T0-1, N1mi, M0, G2, HER2 Status: Positive, ER Status: Negative, PR Status: Any); (T0-1, N1mi, M0, G2, HER2 Status: Negative, ER Status: Negative, PR Status: Positive); (T0-1, N1mi, M0, G3, HER2 Status: Positive, ER Status: Negative, PR Status: Any); (T0-1, N1mi, M0, G3, HER2 Status: Negative, ER Status: Positive, PR Status: Positive); (T2, N0, M0, G1-3, HER2 Status: Positive, ER Status: Positive, PR Status: Positive); (T2, N0, M0, G1-2, HER2 Status: Negative, ER Status: Positive, PR Status: Positive); (T1, N1, M0, G1-3, HER2 Status: Positive, ER Status: Positive, PR Status: Positive); (T1, N1, M0, G1-2, HER2 Status: Negative, ER Status: Positive, PR Status: Positive); (T2, N1, M0, G1, HER2 Status: Negative, ER Status: Positive, PR Status: Positive); (T2, N1, M0, G2, HER2 Status: Positive, ER Status: Positive, PR Status: Positive); (T0-2, N2, M0, G1-2, HER2 Status: Positive, ER Status: Positive, PR Status: Positive); (T3, N1-2, M0, G1, HER2 Status: Positive, ER Status: Positive, PR Status: Positive); (T3, N1-2, M0, G2, HER2 Status: Positive, ER Status: Positive, PR Status: Positive). T0: No evidence of primary tumor. T1: Tumor measuring 20 mm or less in greatest dimension. T2: Tumor measuring more than 20 mm, but not more than 50 mm in greatest dimension. T3: Tumor measuring more than 50 mm in greatest dimension. N0: No regional lymph node metastasis is identified or isolated tumor cell clusters (ITCs) are identified only. N1: Tumor with micrometastases; or metastases in 1-3 axillary lymph nodes; and/or clinically negative internal mammary nodes with micrometastases or macrometastases by sentinel lymph node biopsy. N1mi: Micrometastases (approximately 200 cells, larger than 0.2 mm, but none larger than 2.0 mm). N2: Tumor with metastases in 4-9 axillary lymph nodes; or positive ipsilateral internal mammary lymph nodes by imaging in the absence of axillary lymph node metastases. G1: Low combined histologic grade (favorable); SBR score of 3-5 points. G2: Intermediate combined histologic grade (moderately favorable); SBR score: 6-7 points. G3: High combined histologic grade (unfavorable); SBR score of 8-9 points. M0: No clinical or radiographic evidence of distant metastases. Imaging studies are not required to assign the M0 category. (AJCC 8th ed.)|NCI|N|
C4528576|Lung cancer comprising malignant neoplasms from two or more sites, as determined by clinicoopathological assessment.|NCI|N|
C4528580|Stage II includes: IIA: (T1, N0, M0, G1, HER2 Status: Negative, ER Status: Negative, PR Status: Negative); (T1, N0, M0, G2, HER2 Status: Negative, ER Status: Negative, PR Status: Negative); (T1, N0, M0, G3, HER2 Status: Negative, ER Status: Positive, PR Status: Negative); (T1, N0, M0, G3, HER2 Status: Negative, ER Status: Negative, PR Status: Positive); (T1, N0, M0, G3, HER2 Status: Negative, ER Status: Negative, PR Status: Negative); (T0-1, N1mi, M0, G1, HER2 Status: Negative, ER Status: Negative, PR Status: Negative); (T0-1, N1mi, M0, G2, HER2 Status: Negative, ER Status: Negative, PR Status: Negative); (T0-1, N1mi, M0, G3, HER2 Status: Negative, ER Status: Positive, PR Status: Negative); (T0-1, N1mi, M0, G3, HER2 Status: Negative, ER Status: Negative, PR Status: Positive); (T0-1, N1mi, M0, G3, HER2 Status: Negative, ER Status: Negative, PR Status: Negative); (T0-1, N1, M0, G1, HER2 Status: Positive, ER Status: Positive, PR Status: Negative); (T0-1, N1, M0, G1-2, HER2 Status: Positive, ER Status: Negative, PR Status: Any); (T0-1, N1, M0, G1, HER2 Status: Negative, ER Status: Positive, PR Status: Negative); (T0-1, N1, M0, G1, HER2 Status: Negative, ER Status: Negative, PR Status: Positive); (T0-1, N1, M0, G3, HER2 Status: Negative, ER Status: Positive, PR Status: Positive); (T2, N0, M0, G1, HER2 Status: Positive, ER Status: Positive, PR Status: Negative); (T2, N0, M0, G1-2, HER2 Status: Positive, ER Status: Negative, PR Status: Any); (T2, N0, M0, G1, HER2 Status: Negative, ER Status: Positive, PR Status: Negative); (T2, N0, M0, G1, HER2 Status: Negative, ER Status: Negative, PR Status: Positive); (T2, N0, M0, G3, HER2 Status: Negative, ER Status: Positive, PR Status: Positive); (T0-2, N2, M0, G1, HER2 Status: Negative, ER Status: Positive, PR Status: Positive); (T3, N1-2, M0, G1, HER2 Status: Negative, ER Status: Positive, PR Status: Positive); IIB: (T0-1, N1, M0, G1, HER2 Status: Negative, ER Status: Negative, PR Status: Negative); (T0-1, N1, M0, G2, HER2 Status: Positive, ER Status: Positive, PR Status: Negative); (T0-1, N1, M0, G2, HER2 Status: Negative, ER Status: Positive, PR Status: Negative); (T0-1, N1, M0, G2, HER2 Status: Negative, ER Status: Negative, PR Status: Positive); (T0-1, N1, M0, G3, HER2 Status: Positive, ER Status: Positive, PR Status: Negative); (T0-1, N1, M0, G3, HER2 Status: Positive, ER Status: Negative, PR Status: Any); (T2, N0, M0, G1, HER2 Status: Negative, ER Status: Negative, PR Status: Negative); (T2, N0, M0, G2, HER2 Status: Positive, ER Status: Positive, PR Status: Negative); (T2, N0, M0, G2, HER2 Status: Negative, ER Status: Positive, PR Status: Negative); (T2, N0, M0, G2, HER2 Status: Negative, ER Status: Negative, PR Status: Positive); (T2, N0, M0, G3, HER2 Status: Positive, ER Status: Positive, PR Status: Negative); (T2, N0, M0, G3, HER2 Status: Positive, ER Status: Negative, PR Status: Any); (T2, N1, M0, G1, HER2 Status: Positive, ER Status: Any, PR Status: Any); (T2, N1, M0, G1, HER2 Status: Negative, ER Status: Negative, PR Status: Positive); (T0-2, N2, M0, G2, HER2 Status: Negative, ER Status: Positive, PR Status: Positive); (T0-2, N2, M0, G3, HER2 Status: Positive, ER Status: Positive, PR Status: Positive); (T3, N1-2, M0, G2, HER2 Status: Negative, ER Status: Positive, PR Status: Positive); (T3, N1-2, M0, G3, HER2 Status: Positive, ER Status: Positive, PR Status: Positive). T0: No evidence of primary tumor. T1: Tumor measuring 20 mm or less in greatest dimension. T2: Tumor measuring more than 20 mm, but not more than 50 mm in greatest dimension. T3: Tumor measuring more than 50 mm in greatest dimension. N0: No regional lymph node metastasis is identified or isolated tumor cell clusters (ITCs) are identified only. N1: Tumor with micrometastases; or metastases in 1-3 axillary lymph nodes; and/or clinically negative internal mammary nodes with micrometastases or macrometastases by sentinel lymph node biopsy. N1mi: Micrometastases (approximately 200 cells, larger than 0.2 mm, but none larger than 2.0 mm). N2: Tumor with metastases in 4-9 axillary lymph nodes; or positive ipsilateral internal mammary lymph nodes by imaging in the absence of axillary lymph node metastases. G1: Low combined histologic grade (favorable); SBR score of 3-5 points. G2: Intermediate combined histologic grade (moderately favorable); SBR score: 6-7 points. G3: High combined histologic grade (unfavorable); SBR score of 8-9 points. M0: No clinical or radiographic evidence of distant metastases. Imaging studies are not required to assign the M0 category. (AJCC 8th ed.)|NCI|N|
C4528582|Stage IIA includes: (T1, N0, M0, G1, HER2 Status: Negative, ER Status: Negative, PR Status: Negative); (T1, N0, M0, G2, HER2 Status: Negative, ER Status: Negative, PR Status: Negative); (T1, N0, M0, G3, HER2 Status: Negative, ER Status: Positive, PR Status: Negative); (T1, N0, M0, G3, HER2 Status: Negative, ER Status: Negative, PR Status: Positive); (T1, N0, M0, G3, HER2 Status: Negative, ER Status: Negative, PR Status: Negative); (T0-1, N1mi, M0, G1, HER2 Status: Negative, ER Status: Negative, PR Status: Negative); (T0-1, N1mi, M0, G2, HER2 Status: Negative, ER Status: Negative, PR Status: Negative); (T0-1, N1mi, M0, G3, HER2 Status: Negative, ER Status: Positive, PR Status: Negative); (T0-1, N1mi, M0, G3, HER2 Status: Negative, ER Status: Negative, PR Status: Positive); (T0-1, N1mi, M0, G3, HER2 Status: Negative, ER Status: Negative, PR Status: Negative); (T0-1, N1, M0, G1, HER2 Status: Positive, ER Status: Positive, PR Status: Negative); (T0-1, N1, M0, G1-2, HER2 Status: Positive, ER Status: Negative, PR Status: Any); (T0-1, N1, M0, G1, HER2 Status: Negative, ER Status: Positive, PR Status: Negative); (T0-1, N1, M0, G1, HER2 Status: Negative, ER Status: Negative, PR Status: Positive); (T0-1, N1, M0, G3, HER2 Status: Negative, ER Status: Positive, PR Status: Positive); (T2, N0, M0, G1, HER2 Status: Positive, ER Status: Positive, PR Status: Negative); (T2, N0, M0, G1-2, HER2 Status: Positive, ER Status: Negative, PR Status: Any); (T2, N0, M0, G1, HER2 Status: Negative, ER Status: Positive, PR Status: Negative); (T2, N0, M0, G1, HER2 Status: Negative, ER Status: Negative, PR Status: Positive); (T2, N0, M0, G3, HER2 Status: Negative, ER Status: Positive, PR Status: Positive); (T0-2, N2, M0, G1, HER2 Status: Negative, ER Status: Positive, PR Status: Positive); (T3, N1-2, M0, G1, HER2 Status: Negative, ER Status: Positive, PR Status: Positive). T0: No evidence of primary tumor. T1: Tumor measuring 20 mm or less in greatest dimension. T2: Tumor measuring more than 20 mm, but not more than 50 mm in greatest dimension. T3: Tumor measuring more than 50 mm in greatest dimension. N0: No regional lymph node metastasis is identified or isolated tumor cell clusters (ITCs) are identified only. N1: Tumor with micrometastases; or metastases in 1-3 axillary lymph nodes; and/or clinically negative internal mammary nodes with micrometastases or macrometastases by sentinel lymph node biopsy. N1mi: Micrometastases (approximately 200 cells, larger than 0.2 mm, but none larger than 2.0 mm). N2: Tumor with metastases in 4-9 axillary lymph nodes; or positive ipsilateral internal mammary lymph nodes by imaging in the absence of axillary lymph node metastases. G1: Low combined histologic grade (favorable); SBR score of 3-5 points. G2: Intermediate combined histologic grade (moderately favorable); SBR score: 6-7 points. G3: High combined histologic grade (unfavorable); SBR score of 8-9 points. M0: No clinical or radiographic evidence of distant metastases. Imaging studies are not required to assign the M0 category. (AJCC 8th ed.)|NCI|N|
C4528583|Stage IIB includes: (T0-1, N1, M0, G1, HER2 Status: Negative, ER Status: Negative, PR Status: Negative); (T0-1, N1, M0, G2, HER2 Status: Positive, ER Status: Positive, PR Status: Negative); (T0-1, N1, M0, G2, HER2 Status: Negative, ER Status: Positive, PR Status: Negative); (T0-1, N1, M0, G2, HER2 Status: Negative, ER Status: Negative, PR Status: Positive); (T0-1, N1, M0, G3, HER2 Status: Positive, ER Status: Positive, PR Status: Negative); (T0-1, N1, M0, G3, HER2 Status: Positive, ER Status: Negative, PR Status: Any); (T2, N0, M0, G1, HER2 Status: Negative, ER Status: Negative, PR Status: Negative); (T2, N0, M0, G2, HER2 Status: Positive, ER Status: Positive, PR Status: Negative); (T2, N0, M0, G2, HER2 Status: Negative, ER Status: Positive, PR Status: Negative); (T2, N0, M0, G2, HER2 Status: Negative, ER Status: Negative, PR Status: Positive); (T2, N0, M0, G3, HER2 Status: Positive, ER Status: Positive, PR Status: Negative); (T2, N0, M0, G3, HER2 Status: Positive, ER Status: Negative, PR Status: Any); (T2, N1, M0, G1, HER2 Status: Positive, ER Status: Any, PR Status: Any); (T2, N1, M0, G1, HER2 Status: Negative, ER Status: Negative, PR Status: Positive); (T0-2, N2, M0, G2, HER2 Status: Negative, ER Status: Positive, PR Status: Positive); (T0-2, N2, M0, G3, HER2 Status: Positive, ER Status: Positive, PR Status: Positive); (T3, N1-2, M0, G2, HER2 Status: Negative, ER Status: Positive, PR Status: Positive); (T3, N1-2, M0, G3, HER2 Status: Positive, ER Status: Positive, PR Status: Positive). T0: No evidence of primary tumor. T1: Tumor measuring 20 mm or less in greatest dimension. T2: Tumor measuring more than 20 mm, but not more than 50 mm in greatest dimension. T3: Tumor measuring more than 50 mm in greatest dimension. N0: No regional lymph node metastasis is identified or isolated tumor cell clusters (ITCs) are identified only. N1: Tumor with micrometastases; or metastases in 1-3 axillary lymph nodes; and/or clinically negative internal mammary nodes with micrometastases or macrometastases by sentinel lymph node biopsy. N2: Tumor with metastases in 4-9 axillary lymph nodes; or positive ipsilateral internal mammary lymph nodes by imaging in the absence of axillary lymph node metastases. G1: Low combined histologic grade (favorable); SBR score of 3-5 points. G2: Intermediate combined histologic grade (moderately favorable); SBR score: 6-7 points. G3: High combined histologic grade (unfavorable); SBR score of 8-9 points. M0: No clinical or radiographic evidence of distant metastases. Imaging studies are not required to assign the M0 category. (AJCC 8th ed.)|NCI|N|
C4528584|A finding of multiple pulmonary nodules in which radiologic imaging demonstrates the presence of a dominant lesion.|NCI|N|
C4528585|A finding of multiple pulmonary nodules in which radiologic imaging shows no evidence of a dominant lesion.|NCI|N|
C4528586|Problems associated with the failure to properly and adequately reprocess the device.|NCI|N|
C4528588|Stage III includes: IIIA: (T0-1, N1, M0, G2, HER2 Status: Negative, ER Status: Negative, PR Status: Negative); (T0-1, N1, M0, G3, HER2 Status: Negative, ER Status: Positive, PR Status: Negative); (T0-1, N1, M0, G3, HER2 Status: Negative, ER Status: Negative, PR Status: Any); (T2, N0, M0, G2, HER2 Status: Negative, ER Status: Negative, PR Status: Negative); (T2, N0, M0, G3, HER2 Status: Negative, ER Status: Positive, PR Status: Negative); (T2, N0, M0, G3, HER2 Status: Negative, ER Status: Negative, PR Status: Any); (T2, N1, M0, G1, HER2 Status: Negative, ER Status: Positive, PR Status: Negative); (T2, N1, M0, G2, HER2 Status: Positive, ER Status: Negative, PR Status: Negative); (T2, N1, M0, G2, HER2 Status: Negative, ER Status: Positive, PR Status: Negative); (T2, N1, M0, G3, HER2 Status: Positive, ER Status: Positive, PR Status: Negative); (T2, N1, M0, G3, HER2 Status: Positive, ER Status: Negative, PR Status: Negative); (T3, N0, M0, G1, HER2 Status: Negative, ER Status: Positive, PR Status: Negative); (T3, N0, M0, G2, HER2 Status: Positive, ER Status: Negative, PR Status: Negative); (T3, N0, M0, G2, HER2 Status: Negative, ER Status: Positive, PR Status: Negative); (T3, N0, M0, G3, HER2 Status: Positive, ER Status: Positive, PR Status: Negative); (T3, N0, M0, G3, HER2 Status: Positive, ER Status: Negative, PR Status: Negative); (T0-2, N2, M0, G1, HER2 Status: Positive, ER Status: Positive, PR Status: Negative); (T0-2, N2, M0, G1, HER2 Status: Positive, ER Status: Negative, PR Status: Any); (T0-2, N2, M0, G1, HER2 Status: Negative, ER Status: Positive, PR Status: Negative); (T0-2, N2, M0, G1, HER2 Status: Negative, ER Status: Negative, PR Status: Positive); (T0-2, N2, M0, G2, HER2 Status: Positive, ER Status: Positive, PR Status: Negative); (T0-2, N2, M0, G2, HER2 Status: Positive, ER Status: Negative, PR Status: Any); (T3, N1-2, M0, G1, HER2 Status: Positive, ER Status: Positive, PR Status: Negative); (T3, N1-2, M0, G1, HER2 Status: Positive, ER Status: Negative, PR Status: Any); (T3, N1-2, M0, G1, HER2 Status: Negative, ER Status: Positive, PR Status: Negative); (T3, N1-2, M0, G1, HER2 Status: Negative, ER Status: Negative, PR Status: Positive); (T3, N1-2, M0, G2, HER2 Status: Positive, ER Status: Positive, PR Status: Negative); (T3, N1-2, M0, G2, HER2 Status: Positive, ER Status: Negative, PR Status: Any); (T4, N0-2, M0, G1, HER2 Status: Negative, ER Status: Positive, PR Status: Positive); (Any T, N3, M0, G1, HER2 Status: Negative, ER Status: Positive, PR Status: Positive); IIIB: (T2, N1, M0, G1-2, HER2 Status: Negative, ER Status: Negative, PR Status: Negative); (T2, N1, M0, G3, HER2 Status: Negative, ER Status: Positive, PR Status: Negative); (T3, N0, M0, G1-2, HER2 Status: Negative, ER Status: Negative, PR Status: Negative); (T3, N0, M0, G3, HER2 Status: Negative, ER Status: Positive, PR Status: Negative); (T0-2, N2, M0, G2, HER2 Status: Negative, ER Status: Positive, PR Status: Negative); (T0-2, N2, M0, G2, HER2 Status: Negative, ER Status: Negative, PR Status: Positive); (T0-2, N2, M0, G3, HER2 Status: Positive, ER Status: Positive, PR Status: Negative); (T0-2, N2, M0, G3, HER2 Status: Positive, ER Status: Negative, PR Status: Any); (T0-2, N2, M0, G3, HER2 Status: Negative, ER Status: Positive, PR Status: Positive); (T3, N1-2, M0, G2, HER2 Status: Negative, ER Status: Positive, PR Status: Negative); (T3, N1-2, M0, G2, HER2 Status: Negative, ER Status: Negative, PR Status: Positive); (T3, N1-2, M0, G3, HER2 Status: Positive, ER Status: Positive, PR Status: Negative); (T3, N1-2, M0, G3, HER2 Status: Positive, ER Status: Negative, PR Status: Any); (T3, N1-2, M0, G3, HER2 Status: Negative, ER Status: Positive, PR Status: Positive); (T4, N0-2, M0, G1, HER2 Status: Positive, ER Status: Any, PR Status: Any); (T4, N0-2, M0, G2, HER2 Status: Positive, ER Status: Positive, PR Status: Positive); (T4, N0-2, M0, G2, HER2 Status: Negative, ER Status: Positive, PR Status: Positive); (T4, N0-2, M0, G3, HER2 Status: Positive, ER Status: Positive, PR Status: Positive); (Any T, N3, M0, G1, HER2 Status: Positive, ER Status: Any, PR Status: Any); (Any T, N3, M0, G2, HER2 Status: Positive, ER Status: Positive, PR Status: Positive); (Any T, N3, M0, G2, HER2 Status: Negative, ER Status: Positive, PR Status: Positive); (Any T, N3, M0, G3, HER2 Status: Positive, ER Status: Positive, PR Status: Positive); IIIC: (T2, N1, M0, G3, HER2 Status: Negative, ER Status: Negative, PR Status: Any); (T3, N0, M0, G3, HER2 Status: Negative, ER Status: Negative, PR Status: Any ); (T0-2, N2, M0, G2, HER2 Status: Negative, ER Status: Negative, PR Status: Negative); (T0-2, N2, M0, G3, HER2 Status: Negative, ER Status: Positive, PR Status: Negative); (T0-2, N2, M0, G3, HER2 Status: Negative, ER Status: Negative, PR Status: Any); (T3, N1-2, M0, G2, HER2 Status: Negative, ER Status: Negative, PR Status: Negative); (T3, N1-2, M0, G3, HER2 Status: Negative, ER Status: Positive, PR Status: Negative); (T3, N1-2, M0, G3, HER2 Status: Negative, ER Status: Negative, PR Status: Any); (T4, N0-2, M0, G1, HER2 Status: Negative, ER Status: Positive, PR Status: Negative); (T4, N0-2, M0, G1, HER2 Status: Negative, ER Status: Negative, PR Status: Any); (T4, N0-2, M0, G2, HER2 Status: Positive, ER Status: Positive, PR Status: Negative); (T4, N0-2, M0, G2, HER2 Status: Positive, ER Status: Negative, PR Status: Any); (T4, N0-2, M0, G2, HER2 Status: Negative, ER Status: Positive, PR Status: Negative); (T4, N0-2, M0, G2, HER2 Status: Negative, ER Status: Negative, PR Status: Any); (T4, N0-2, M0, G3, HER2 Status: Positive, ER Status: Positive, PR Status: Negative); (T4, N0-2, M0, G3, HER2 Status: Positive, ER Status: Negative, PR Status: Any); (T4, N0-2, M0, G3, HER2 Status: Negative, ER Status: Any, PR Status: Any); (Any T, N3, M0, G1, HER2 Status: Negative, ER Status: Positive, PR Status: Negative); (Any T, N3, M0, G1, HER2 Status: Negative, ER Status: Negative, PR Status: Any); (Any T, N3, M0, G2, HER2 Status: Positive, ER Status: Positive, PR Status: Negative); (Any T, N3, M0, G2, HER2 Status: Positive, ER Status: Negative, PR Status: Any); (Any T, N3, M0, G2, HER2 Status: Negative, ER Status: Positive, PR Status: Negative); (Any T, N3, M0, G2, HER2 Status: Negative, ER Status: Negative, PR Status: Any); (Any T, N3, M0, G3, HER2 Status: Positive, ER Status: Positive, PR Status: Negative); (Any T, N3, M0, G3, HER2 Status: Positive, ER Status: Negative, PR Status: Any); (Any T, N3, M0, G3, HER2 Status: Negative, ER Status: Any, PR Status: Any). T0: No evidence of primary tumor. T1: Tumor measuring 20 mm or less in greatest dimension. T2: Tumor measuring more than 20 mm, but not more than 50 mm in greatest dimension. T3: Tumor measuring more than 50 mm in greatest dimension. T4: Tumor of any size with direct extension to the chest wall and/or to the skin (ulceration or macroscopic nodules); invasion of the dermis alone does not qualify as T4. N0: No regional lymph node metastasis is identified or isolated tumor cell clusters (ITCs) are identified only. N1: Tumor with micrometastases; or metastases in 1-3 axillary lymph nodes; and/or clinically negative internal mammary nodes with micrometastases or macrometastases by sentinel lymph node biopsy. N2: Tumor with metastases in 4-9 axillary lymph nodes; or positive ipsilateral internal mammary lymph nodes by imaging in the absence of axillary lymph node metastases. N3: Tumor with metastases in 10 or more axillary lymph nodes; or in infraclavicular (level III axillary) lymph nodes; or positive ipsilateral internal mammary lymph nodes by imaging in the presence of one or more positive level I, II axillary lymph nodes; or in more than three axillary lymph nodes and micrometastases or macrometastases by sentinel lymph node biopsy in clinically negative ipsilateral internal mammary lymph nodes; or in ipsilateral supraclavicular lymph nodes. G1: Low combined histologic grade (favorable); SBR score of 3-5 points. G2: Intermediate combined histologic grade (moderately favorable); SBR score: 6-7 points. G3: High combined histologic grade (unfavorable); SBR score of 8-9 points. M0: No clinical or radiographic evidence of distant metastases. Imaging studies are not required to assign the M0 category. (AJCC 8th ed.)|NCI|N|
C4528589|Stage IIIA includes: (T0-1, N1, M0, G2, HER2 Status: Negative, ER Status: Negative, PR Status: Negative); (T0-1, N1, M0, G3, HER2 Status: Negative, ER Status: Positive, PR Status: Negative); (T0-1, N1, M0, G3, HER2 Status: Negative, ER Status: Negative, PR Status: Any); (T2, N0, M0, G2, HER2 Status: Negative, ER Status: Negative, PR Status: Negative); (T2, N0, M0, G3, HER2 Status: Negative, ER Status: Positive, PR Status: Negative); (T2, N0, M0, G3, HER2 Status: Negative, ER Status: Negative, PR Status: Any); (T2, N1, M0, G1, HER2 Status: Negative, ER Status: Positive, PR Status: Negative); (T2, N1, M0, G2, HER2 Status: Positive, ER Status: Negative, PR Status: Negative); (T2, N1, M0, G2, HER2 Status: Negative, ER Status: Positive, PR Status: Negative); (T2, N1, M0, G3, HER2 Status: Positive, ER Status: Positive, PR Status: Negative); (T2, N1, M0, G3, HER2 Status: Positive, ER Status: Negative, PR Status: Negative); (T3, N0, M0, G1, HER2 Status: Negative, ER Status: Positive, PR Status: Negative); (T3, N0, M0, G2, HER2 Status: Positive, ER Status: Negative, PR Status: Negative); (T3, N0, M0, G2, HER2 Status: Negative, ER Status: Positive, PR Status: Negative); (T3, N0, M0, G3, HER2 Status: Positive, ER Status: Positive, PR Status: Negative); (T3, N0, M0, G3, HER2 Status: Positive, ER Status: Negative, PR Status: Negative); (T0-2, N2, M0, G1, HER2 Status: Positive, ER Status: Positive, PR Status: Negative); (T0-2, N2, M0, G1, HER2 Status: Positive, ER Status: Negative, PR Status: Any); (T0-2, N2, M0, G1, HER2 Status: Negative, ER Status: Positive, PR Status: Negative); (T0-2, N2, M0, G1, HER2 Status: Negative, ER Status: Negative, PR Status: Positive); (T0-2, N2, M0, G2, HER2 Status: Positive, ER Status: Positive, PR Status: Negative); ( T0-2, N2, M0, G2, HER2 Status: Positive, ER Status: Negative, PR Status: Any); (T3, N1-2, M0, G1, HER2 Status: Positive, ER Status: Positive, PR Status: Negative); (T3, N1-2, M0, G1, HER2 Status: Positive, ER Status: Negative, PR Status: Any); (T3, N1-2, M0, G1, HER2 Status: Negative, ER Status: Positive, PR Status: Negative); (T3, N1-2, M0, G1, HER2 Status: Negative, ER Status: Negative, PR Status: Positive); (T3, N1-2, M0, G2, HER2 Status: Positive, ER Status: Positive, PR Status: Negative); (T3, N1-2, M0, G2, HER2 Status: Positive, ER Status: Negative, PR Status: Any); (T4, N0-2, M0, G1, HER2 Status: Negative, ER Status: Positive, PR Status: Positive); (Any T, N3, M0, G1, HER2 Status: Negative, ER Status: Positive, PR Status: Positive). T0: No evidence of primary tumor. T1: Tumor measuring 20 mm or less in greatest dimension. T2: Tumor measuring more than 20 mm, but not more than 50 mm in greatest dimension. T3: Tumor measuring more than 50 mm in greatest dimension. T4: Tumor of any size with direct extension to the chest wall and/or to the skin (ulceration or macroscopic nodules); invasion of the dermis alone does not qualify as T4. N0: No regional lymph node metastasis is identified or isolated tumor cell clusters (ITCs) are identified only. N1: Tumor with micrometastases; or metastases in 1-3 axillary lymph nodes; and/or clinically negative internal mammary nodes with micrometastases or macrometastases by sentinel lymph node biopsy. N2: Tumor with metastases in 4-9 axillary lymph nodes; or positive ipsilateral internal mammary lymph nodes by imaging in the absence of axillary lymph node metastases. N3: Tumor with metastases in 10 or more axillary lymph nodes; or in infraclavicular (level III axillary) lymph nodes; or positive ipsilateral internal mammary lymph nodes by imaging in the presence of one or more positive level I, II axillary lymph nodes; or in more than three axillary lymph nodes and micrometastases or macrometastases by sentinel lymph node biopsy in clinically negative ipsilateral internal mammary lymph nodes; or in ipsilateral supraclavicular lymph nodes. G1: Low combined histologic grade (favorable); SBR score of 3-5 points. G2: Intermediate combined histologic grade (moderately favorable); SBR score: 6-7 points. G3: High combined histologic grade (unfavorable); SBR score of 8-9 points. M0: No clinical or radiographic evidence of distant metastases. Imaging studies are not required to assign the M0 category. (AJCC 8th ed.)|NCI|N|
C4528590|Stage IIIB includes: (T2, N1, M0, G1-2, HER2 Status: Negative, ER Status: Negative, PR Status: Negative); (T2, N1, M0, G3, HER2 Status: Negative, ER Status: Positive, PR Status: Negative); (T3, N0, M0, G1-2, HER2 Status: Negative, ER Status: Negative, PR Status: Negative); (T3, N0, M0, G3, HER2 Status: Negative, ER Status: Positive, PR Status: Negative); (T0-2, N2, M0, G2, HER2 Status: Negative, ER Status: Positive, PR Status: Negative); (T0-2, N2, M0, G2, HER2 Status: Negative, ER Status: Negative, PR Status: Positive); (T0-2, N2, M0, G3, HER2 Status: Positive, ER Status: Positive, PR Status: Negative); (T0-2, N2, M0, G3, HER2 Status: Positive, ER Status: Negative, PR Status: Any); (T0-2, N2, M0, G3, HER2 Status: Negative, ER Status: Positive, PR Status: Positive); (T3, N1-2, M0, G2, HER2 Status: Negative, ER Status: Positive, PR Status: Negative); (T3, N1-2, M0, G2, HER2 Status: Negative, ER Status: Negative, PR Status: Positive); (T3, N1-2, M0, G3, HER2 Status: Positive, ER Status: Positive, PR Status: Negative); (T3, N1-2, M0, G3, HER2 Status: Positive, ER Status: Negative, PR Status: Any); (T3, N1-2, M0, G3, HER2 Status: Negative, ER Status: Positive, PR Status: Positive); (T4, N0-2, M0, G1, HER2 Status: Positive, ER Status: Any, PR Status: Any); (T4, N0-2, M0, G2, HER2 Status: Positive, ER Status: Positive, PR Status: Positive); (T4, N0-2, M0, G2, HER2 Status: Negative, ER Status: Positive, PR Status: Positive); (T4, N0-2, M0, G3, HER2 Status: Positive, ER Status: Positive, PR Status: Positive); (Any T, N3, M0, G1, HER2 Status: Positive, ER Status: Any, PR Status: Any); (Any T, N3, M0, G2, HER2 Status: Positive, ER Status: Positive, PR Status: Positive); (Any T, N3, M0, G2, HER2 Status: Negative, ER Status: Positive, PR Status: Positive); (Any T, N3, M0, G3, HER2 Status: Positive, ER Status: Positive, PR Status: Positive). T0: No evidence of primary tumor. T1: Tumor measuring 20 mm or less in greatest dimension. T2: Tumor measuring more than 20 mm, but not more than 50 mm in greatest dimension. T3: Tumor measuring more than 50 mm in greatest dimension. T4: Tumor of any size with direct extension to the chest wall and/or to the skin (ulceration or macroscopic nodules); invasion of the dermis alone does not qualify as T4. N0: No regional lymph node metastasis is identified or isolated tumor cell clusters (ITCs) are identified only. N1: Tumor with micrometastases; or metastases in 1-3 axillary lymph nodes; and/or clinically negative internal mammary nodes with micrometastases or macrometastases by sentinel lymph node biopsy. N2: Tumor with metastases in 4-9 axillary lymph nodes; or positive ipsilateral internal mammary lymph nodes by imaging in the absence of axillary lymph node metastases. N3: Tumor with metastases in 10 or more axillary lymph nodes; or in infraclavicular (level III axillary) lymph nodes; or positive ipsilateral internal mammary lymph nodes by imaging in the presence of one or more positive level I, II axillary lymph nodes; or in more than three axillary lymph nodes and micrometastases or macrometastases by sentinel lymph node biopsy in clinically negative ipsilateral internal mammary lymph nodes; or in ipsilateral supraclavicular lymph nodes. G1: Low combined histologic grade (favorable); SBR score of 3-5 points. G2: Intermediate combined histologic grade (moderately favorable); SBR score: 6-7 points. G3: High combined histologic grade (unfavorable); SBR score of 8-9 points. M0: No clinical or radiographic evidence of distant metastases. Imaging studies are not required to assign the M0 category. (AJCC 8th ed.)|NCI|N|
C4528591|Stage IIIC includes: (T2, N1, M0, G3, HER2 Status: Negative, ER Status: Negative, PR Status: Any); (T3, N0, M0, G3, HER2 Status: Negative, ER Status: Negative, PR Status: Any ); (T0-2, N2, M0, G2, HER2 Status: Negative, ER Status: Negative, PR Status: Negative); (T0-2, N2, M0, G3, HER2 Status: Negative, ER Status: Positive, PR Status: Negative); (T0-2, N2, M0, G3, HER2 Status: Negative, ER Status: Negative, PR Status: Any); (T3, N1-2, M0, G2, HER2 Status: Negative, ER Status: Negative, PR Status: Negative); (T3, N1-2, M0, G3, HER2 Status: Negative, ER Status: Positive, PR Status: Negative); (T3, N1-2, M0, G3, HER2 Status: Negative, ER Status: Negative, PR Status: Any); (T4, N0-2, M0, G1, HER2 Status: Negative, ER Status: Positive, PR Status: Negative); (T4, N0-2, M0, G1, HER2 Status: Negative, ER Status: Negative, PR Status: Any); (T4, N0-2, M0, G2, HER2 Status: Positive, ER Status: Positive, PR Status: Negative); (T4, N0-2, M0, G2, HER2 Status: Positive, ER Status: Negative, PR Status: Any); (T4, N0-2, M0, G2, HER2 Status: Negative, ER Status: Positive, PR Status: Negative); (T4, N0-2, M0, G2, HER2 Status: Negative, ER Status: Negative, PR Status: Any); (T4, N0-2, M0, G3, HER2 Status: Positive, ER Status: Positive, PR Status: Negative); (T4, N0-2, M0, G3, HER2 Status: Positive, ER Status: Negative, PR Status: Any); (T4, N0-2, M0, G3, HER2 Status: Negative, ER Status: Any, PR Status: Any); (Any T, N3, M0, G1, HER2 Status: Negative, ER Status: Positive, PR Status: Negative); (Any T, N3, M0, G1, HER2 Status: Negative, ER Status: Negative, PR Status: Any); (Any T, N3, M0, G2, HER2 Status: Positive, ER Status: Positive, PR Status: Negative); (Any T, N3, M0, G2, HER2 Status: Positive, ER Status: Negative, PR Status: Any); (Any T, N3, M0, G2, HER2 Status: Negative, ER Status: Positive, PR Status: Negative); (Any T, N3, M0, G2, HER2 Status: Negative, ER Status: Negative, PR Status: Any); (Any T, N3, M0, G3, HER2 Status: Positive, ER Status: Positive, PR Status: Negative); (Any T, N3, M0, G3, HER2 Status: Positive, ER Status: Negative, PR Status: Any); (Any T, N3, M0, G3, HER2 Status: Negative, ER Status: Any, PR Status: Any). T0: No evidence of primary tumor. T1: Tumor measuring 20 mm or less in greatest dimension. T2: Tumor measuring more than 20 mm, but not more than 50 mm in greatest dimension. T3: Tumor measuring more than 50 mm in greatest dimension. T4: Tumor of any size with direct extension to the chest wall and/or to the skin (ulceration or macroscopic nodules); invasion of the dermis alone does not qualify as T4. N0: No regional lymph node metastasis is identified or isolated tumor cell clusters (ITCs) are identified only. N1: Tumor with micrometastases; or metastases in 1-3 axillary lymph nodes; and/or clinically negative internal mammary nodes with micrometastases or macrometastases by sentinel lymph node biopsy. N2: Tumor with metastases in 4-9 axillary lymph nodes; or positive ipsilateral internal mammary lymph nodes by imaging in the absence of axillary lymph node metastases. N3: Tumor with metastases in 10 or more axillary lymph nodes; or in infraclavicular (level III axillary) lymph nodes; or positive ipsilateral internal mammary lymph nodes by imaging in the presence of one or more positive level I, II axillary lymph nodes; or in more than three axillary lymph nodes and micrometastases or macrometastases by sentinel lymph node biopsy in clinically negative ipsilateral internal mammary lymph nodes; or in ipsilateral supraclavicular lymph nodes. G1: Low combined histologic grade (favorable); SBR score of 3-5 points. G2: Intermediate combined histologic grade (moderately favorable); SBR score: 6-7 points. G3: High combined histologic grade (unfavorable); SBR score of 8-9 points. M0: No clinical or radiographic evidence of distant metastases. Imaging studies are not required to assign the M0 category. (AJCC 8th ed.)|NCI|N|
C4528592|Stage IV includes: Any T, Any N, M1, G1-3, HER2 Status: Any, ER Status: Any, PR Status: Any. G1: Low combined histologic grade (favorable); SBR score of 3-5 points. G2: Intermediate combined histologic grade (moderately favorable); SBR score: 6-7 points. G3: High combined histologic grade (unfavorable); SBR score of 8-9 points. M1: Distant metastases detected by clinical and radiographic means and/or histologically proven metastases larger than 0.2 mm. (AJCC 8th ed.)|NCI|N|
C4528593|A genetic finding indicating an excess of DNA methylation in the promoter region of the MGMT gene.|NCI|N|
C4528594|A finding about one or more characteristics of female reproductive system cancer, following the rules of the TNM AJCC v8 classification system. The TNM categories have been defined to correspond to the FIGO stages. Some amendments have been made in collaboration with FIGO, and the classifications now published have the approval of FIGO, AJCC, and all other national TNM committees of the Union for International Cancer Control (UICC). (from AJCC 8th Ed.)|NCI|N|
C4528595|A finding about one or more characteristics of vulvar cancer, following the rules of the TNM AJCC v8 classification system. This classification system applies to all carcinomas of the vulva. Melanoma of the vulva is staged according to the classification for melanoma of the skin. (from AJCC 8th Ed.)|NCI|N|
C4528596|A clinical finding about one or more characteristics of vulvar cancer, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4528597|A clinical finding about one or more characteristics of vulvar cancer, following the rules of the TNM AJCC v8 classification system as they pertain to distant metastases.|NCI|N|
C4528598|Vulvar cancer without evidence of distant metastasis (no pathological M0; use clinical M to complete stage group). (from AJCC 8th Ed.)|NCI|N|
C4528599|Vulvar cancer with distant metastasis (including pelvic lymph node metastasis). (from AJCC 8th Ed.)|NCI|N|
C4528600|A pathologic finding about one or more characteristics of vulvar cancer, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4528601|A pathologic finding about one or more characteristics of vulvar cancer, following the rules of the TNM AJCC v8 classification system as they pertain to distant metastases.|NCI|N|
C4528602|A pathologic finding about one or more characteristics of vulvar cancer, following the rules of the TNM AJCC v8 classification system as they pertain to staging of the primary tumor. The definitions of the T categories correspond to the stages accepted by FIGO. (from AJCC 8th Ed.)|NCI|N|
C4528603|Vulvar cancer in which the primary tumor cannot be assessed. (from AJCC 8th Ed.)|NCI|N|
C4528604|Vulvar cancer with no evidence of primary tumor. (from AJCC 8th Ed.)|NCI|N|
C4528605|Vulvar cancer with tumor confined to the vulva and/or perineum. Multifocal lesions should be designated as such. The largest lesion or the lesion with the greatest depth of invasion will be the target lesion identified to address the highest pT stage. Depth of invasion is defined as the measurement of the tumor from the epithelial-stromal junction of the adjacent most superficial dermal papilla to the deepest point of invasion. (from AJCC 8th Ed.)|NCI|N|
C4528606|Vulvar cancer with lesion measuring 2 cm or less, confined to the vulva and/or perineum, and with stromal invasion of 1.0 mm or less. (from AJCC 8th Ed.)|NCI|N|
C4528607|Vulvar cancer with lesion measuring more than 2 cm, or any size with stromal invasion of more than 1.0 mm, confined to the vulva and/or perineum. (from AJCC 8th Ed.)|NCI|N|
C4528608|Vulvar cancer with tumor of any size with extension to adjacent perineal structures (lower/distal third of the urethra, lower/distal third of the vagina, anal involvement). (from AJCC 8th Ed.)|NCI|N|
C4528609|A pathologic finding about one or more characteristics of vulvar cancer, following the rules of the TNM AJCC v8 classification system as they pertain to staging of regional lymph nodes.|NCI|N|
C4528610|Vulvar cancer in which the regional lymph nodes cannot be assessed. (from AJCC 8th Ed.)|NCI|N|
C4528611|Vulvar cancer with isolated tumor cells in regional lymph node(s) no greater than 0.2 mm. (from AJCC 8th Ed.)|NCI|N|
C4528612|Vulvar cancer with regional lymph node metastasis with one or two lymph node metastases each less than 5 mm, or one lymph node metastasis equal to 5 mm. (from AJCC 8th Ed.)|NCI|N|
C4528613|Vulvar cancer with regional lymph node metastasis with three or more lymph node metastases each less than 5 mm, or two or more lymph node metastases equal to 5 mm, or lymph node(s) with extranodal extension. (from AJCC 8th Ed.)|NCI|N|
C4528614|Vulvar cancer with lymph node(s) metastasis with extranodal extension. (from AJCC 8th Ed.)|NCI|N|
C4528615|A term that refers to the staging of vulvar cancer according to the American Joint Committee on Cancer, 8th edition. This staging system applies to all carcinomas of the vulva. Melanoma of the vulva is staged according to the classification for melanoma of the skin. (AJCC 8th Ed.)|NCI|N|
C4528616|Stage I includes: T1, N0, M0. T1: Tumor confined to the vulva and/or perineum. Multifocal lesions should be designated as such. The largest lesion or the lesion with the greatest depth of invasion will be the target lesion identified to address the highest pT stage. Depth of invasion is defined as the measurement of the tumor from the epithelial-stromal junction of the adjacent most superficial dermal papilla to the deepest point of invasion. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th Ed.)|NCI|N|
C4528617|Stage IA includes: T1a, N0, M0. T1a: Lesion measuring 2 cm or less, confined to the vulva and/or perineum, and with stromal invasion of 1.0 mm or less. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th Ed.)|NCI|N|
C4528618|Stage IB includes: T1b, N0, M0. T1b: Lesion measuring more than 2 cm, or any size with stromal invasion of more than 1.0 mm, confined to the vulva and/or perineum. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th Ed.)|NCI|N|
C4528619|Stage II includes: T2, N0, M0. T2: Tumor of any size with extension to adjacent perineal structures (lower/distal third of the urethra, lower/distal third of the vagina, anal involvement). N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th Ed.)|NCI|N|
C4528620|Stage III includes: T1-T2, N1-N2c, M0. T1: Tumor confined to the vulva and/or perineum. Multifocal lesions should be designated as such. The largest lesion or the lesion with the greatest depth of invasion will be the target lesion identified to address the highest pT stage. Depth of invasion is defined as the measurement of the tumor from the epithelial-stromal junction of the adjacent most superficial dermal papilla to the deepest point of invasion. T2: Tumor of any size with extension to adjacent perineal structures (lower/distal third of the urethra, lower/distal third of the vagina, anal involvement). N1: Regional lymph node metastasis with one or two lymph node metastases each less than 5 mm, or one lymph node metastasis equal to 5 mm. N2a: Three or more lymph node metastases each less than 5 mm. It includes micrometastasis, N2mi. N2b: Two or more lymph node metastases equal to 5 mm. N2c: Lymph node(s) metastasis with extranodal extension. M0: No distant metastasis. (AJCC 8th Ed.)|NCI|N|
C4528621|Stage IIIA includes: T1-T2, N1, M0. T1: Tumor confined to the vulva and/or perineum. Multifocal lesions should be designated as such. The largest lesion or the lesion with the greatest depth of invasion will be the target lesion identified to address the highest pT stage. Depth of invasion is defined as the measurement of the tumor from the epithelial-stromal junction of the adjacent most superficial dermal papilla to the deepest point of invasion. T2: Tumor of any size with extension to adjacent perineal structures (lower/distal third of the urethra, lower/distal third of the vagina, anal involvement). N1: Regional lymph node metastasis with one or two lymph node metastases each less than 5 mm, or one lymph node metastasis equal to 5 mm. M0: No distant metastasis. (AJCC 8th Ed.)|NCI|N|
C4528622|Stage IIIB includes: T1-T2, N2a, N2b, M0. T1: Tumor confined to the vulva and/or perineum. Multifocal lesions should be designated as such. The largest lesion or the lesion with the greatest depth of invasion will be the target lesion identified to address the highest pT stage. Depth of invasion is defined as the measurement of the tumor from the epithelial-stromal junction of the adjacent most superficial dermal papilla to the deepest point of invasion. T2: Tumor of any size with extension to adjacent perineal structures (lower/distal third of the urethra, lower/distal third of the vagina, anal involvement). N2a: Three or more lymph node metastases each less than 5 mm. It includes micrometastasis, N2mi. N2b: Two or more lymph node metastases equal to 5 mm. M0: No distant metastasis. (AJCC 8th Ed.)|NCI|N|
C4528623|Stage IIIC includes: T1-T2, N2c, M0. T1: Tumor confined to the vulva and/or perineum. Multifocal lesions should be designated as such. The largest lesion or the lesion with the greatest depth of invasion will be the target lesion identified to address the highest pT stage. Depth of invasion is defined as the measurement of the tumor from the epithelial-stromal junction of the adjacent most superficial dermal papilla to the deepest point of invasion. T2: Tumor of any size with extension to adjacent perineal structures (lower/distal third of the urethra, lower/distal third of the vagina, anal involvement). N2c: Lymph node(s) metastasis with extranodal extension. M0: No distant metastasis. (AJCC 8th Ed.)|NCI|N|
C4528624|Stage IVA includes: (T1-T2, N3, M0); (T3, Any N, M0). T1: Tumor confined to the vulva and/or perineum. Multifocal lesions should be designated as such. The largest lesion or the lesion with the greatest depth of invasion will be the target lesion identified to address the highest pT stage. Depth of invasion is defined as the measurement of the tumor from the epithelial-stromal junction of the adjacent most superficial dermal papilla to the deepest point of invasion. T2: Tumor of any size with extension to adjacent perineal structures (lower/distal third of the urethra, lower/distal third of the vagina, anal involvement). T3: Tumor of any size with extension to any of the following: upper/proximal two-thirds of the urethra, upper/proximal two-thirds of the vagina, bladder mucosa, or rectal mucosa; or fixed to pelvic bone. N3: Fixed or ulcerated regional lymph node metastasis. M0: No distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4528625|Stage IVB includes: Any T, Any N, M1. M1: Distant metastasis (including pelvic lymph node metastasis). (from AJCC 8th Ed.)|NCI|N|
C4528626|A condition that is relevant to either disease states or models of disease in rats or mice.|NCI|N|
C4528627|A primary cutaneous T-cell lymphoproliferative disorder. It usually presents with a solitary plaque or tumor on the face, neck, or upper trunk. Morphologically, it is composed of small to medium-sized CD4-positive, CD8-negative, and CD30-negative pleomorphic T-lymphocytes. A small number of large pleomorphic T-lymphocytes may also be present. The lymphocytic infiltrate is dermal. Focal epidermotropism and subcutaneous involvement may be present. The clinical behavior is almost always indolent and most patients present with localized disease.|NCI|N|
C4528629|Peeling or delamination of composite materials, including coatings, that occurs when layers are separated as a result of stress or impact and resulting in loss of mechanical toughness.|NCI|N|
C4528630|Problem with an implanted or invasive device moving within the body, or being completely expelled from the body.|NCI|N|
C4528631|Problem associated with deformations that lead to twisting or bending of the device.|NCI|N|
C4528632|Major salivary gland cancer with metastasis in multiple ipsilateral lymph nodes, none more than 6 cm in greatest dimension. (from AJCC 6th and 7th Eds.)|NCI|N|
C4528633|Stage I includes: IA: (T1a, N0, M0); IB: (T1b, N0, M0); (T2a, N0, M0). T1a: Cutaneous melanoma with a tumor measuring 1.0 mm or less in thickness, without ulceration and mitosis less than 1/mm2. T1b: Cutaneous melanoma with a tumor measuring 1.0 mm or less in thickness, with ulceration or mitoses equal to or more than 1/mm2. T2a: Cutaneous melanoma with a tumor measuring 1.01-2.0 mm in thickness, without ulceration. N0: No regional lymph node metastases. M0: No detectable evidence of distant metastases. (from AJCC 7th Ed.)|NCI|N|
C4528634|Stage II includes: IIA: (T2b, N0, M0); (T3a, N0, M0); IIB: (T3b, N0, M0); (T4a, N0, M0); IIC: (T4b, N0, M0). T2b: Cutaneous melanoma with a tumor measuring 1.01-2.0 mm in thickness, with ulceration. T3a: Cutaneous melanoma with a tumor measuring 2.01-4.0 mm in thickness, without ulceration. T3b: Cutaneous melanoma with a tumor measuring 2.01-4.0 mm in thickness, with ulceration. T4a: Cutaneous melanoma with a tumor measuring more than 4.0 mm in thickness, without ulceration. T4b: Cutaneous melanoma with a tumor measuring more than 4.0 mm in thickness, with ulceration. N0: No regional lymph node metastases. M0: No detectable evidence of distant metastases. (from AJCC 6th and 7th Ed.)|NCI|N|
C4528635|Stage III includes: Any T, N1-3, M0. Stage III is divided into three pathologic subgroups: IIIA, IIIB, and IIIC. There are no clinical subgroups for stage III. N1: Cutaneous melanoma with metastasis in one regional lymph node. N2: Cutaneous melanoma with metastases in 2-3 regional lymph nodes or in transit met(s)/satellite(s) without metastatic nodes. N3: Cutaneous melanoma with 4 or more metastatic nodes, or matted nodes, or in transit met(s)/satellite(s) with metastatic node(s). M0: No detectable evidence of distant metastases. (from AJCC 7th Ed.)|NCI|N|
C4528636|Stage IV includes: (Any T, Any N, M1). M1: Distant metastasis. (from AJCC 6th and 7th Eds.)|NCI|N|
C4528637|Stage I includes: IA: (T1a, N0, M0); IB: (T1b, N0, M0); (T2a, N0, M0). T1a: Cutaneous melanoma with a tumor measuring 1.0 mm or less in thickness, without ulceration and mitosis less than 1/mm2. T1b: Cutaneous melanoma with a tumor measuring 1.0 mm or less in thickness, with ulceration or mitoses equal to or more than 1/mm2. T2a: Cutaneous melanoma with a tumor measuring 1.01-2.0 mm in thickness, without ulceration. N0: No regional lymph node metastases. M0: No detectable evidence of distant metastases. (from AJCC 7th Ed.)|NCI|N|
C4528638|Stage III includes: Any T, N1-3, M0. Stage III is divided into three pathologic subgroups: IIIA, IIIB, and IIIC. There are no clinical subgroups for stage III. N1: Cutaneous melanoma with metastasis in one regional lymph node. N2: Cutaneous melanoma with metastases in 2-3 regional lymph nodes or in transit met(s)/satellite(s) without metastatic nodes. N3: Cutaneous melanoma with 4 or more metastatic nodes, or matted nodes, or in transit met(s)/satellite(s) with metastatic node(s). M0: No detectable evidence of distant metastases. (from AJCC 7th Ed.)|NCI|N|
C4528639|Stage I includes: IA: (T1a, N0, M0); IB: (T1b, N0, M0); (T2a, N0, M0). T1a: Cutaneous melanoma with a tumor measuring 1.0 mm or less in thickness, without ulceration and mitosis less than 1/mm2. T1b: Cutaneous melanoma with a tumor measuring 1.0 mm or less in thickness, with ulceration or mitoses equal to or more than 1/mm2. T2a: Cutaneous melanoma with a tumor measuring 1.01-2.0 mm in thickness, without ulceration. N0: No regional lymph node metastases. M0: No detectable evidence of distant metastases. (from AJCC 7th Ed.)|NCI|N|
C4528640|Stage III includes: Any T, N1-3, M0. Stage III is divided into three pathologic subgroups: IIIA, IIIB, and IIIC. There are no clinical subgroups for stage III. N1: Cutaneous melanoma with metastasis in one regional lymph node. N2: Cutaneous melanoma with metastases in 2-3 regional lymph nodes or in transit met(s)/satellite(s) without metastatic nodes. N3: Cutaneous melanoma with 4 or more metastatic nodes, or matted nodes, or in transit met(s)/satellite(s) with metastatic node(s). M0: No detectable evidence of distant metastases. (from AJCC 7th Ed.)|NCI|N|
C4528641|Stage IV includes: (Any T, Any N, M1). M1: Distant metastasis. (from AJCC 6th and 7th Eds.)|NCI|N|
C4528645|A carcinoma arising from the anal canal and occurring in HIV-positive patients.|NCI|N|
C4528646|A pathologic finding about one or more characteristics of laryngeal cancer, following the rules of the TNM AJCC v8 classification system as they pertain to staging of regional lymph nodes.|NCI|N|
C4528653|A term that refers to the clinical staging of esophageal squamous cell carcinoma according to the American Joint Committee on Cancer, 8th edition.|NCI|N|
C4528654|A change in the amino acid residue at position 1171 in the ALK tyrosine kinase receptor protein where isoleucine has been replaced by asparagine.|NCI|N|
C4528655|Problems associated with the device''s ability to respond to signals from a system designed to interrogate its status.|NCI|N|
C4528656|A molecular abnormality referring to the loss of at least one copy of the PTCH1 gene.|NCI|N|
C4528658|A finding about one or more characteristics of anal cancer, following the rules of the TNM AJCC v8 classification system. This staging system applies to all carcinomas arising in the anal canal, including carcinomas that arise within anorectal fistulas and those arising in the perianal area (anal margin). High-grade neuroendocrine carcinomas (small cell neuroendocrine carcinoma and large cell neuroendocrine carcinoma) are staged using this system. There is no AJCC staging system for anal mucosal melanomas and anal well-differentiated neuroendocrine tumors. (from AJCC 8th Ed.)|NCI|N|
C4528659|Anal cancer with tumor of any size invading adjacent organ(s), such as the vagina, urethra, or bladder. (from AJCC 8th Ed.)|NCI|N|
C4528660|Small intestine cancer in which the primary tumor cannot be assessed. (from AJCC 8th Ed.)|NCI|N|
C4528661|Small intestine cancer with metastasis in one or two regional lymph nodes. (from AJCC 8th Ed.)|NCI|N|
C4528664|Stage II includes: IIA: T3, N0, M0; IIB: T4a, N0, M0; IIC: T4b, N0, M0. T3: Tumor invades through the muscularis propria into the subserosa or the mesoappendix. T4a: Tumor invades through the visceral peritoneum, including the acellular mucin or mucinous epithelium involving the serosa of the appendix or serosa of the mesoappendix. T4b: Tumor directly invades or adheres to adjacent organs or structures. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4528665|Colorectal cancer with no evidence of primary tumor. (from AJCC 8th Ed.)|NCI|N|
C4528666|Stage II includes: IIA: T3, N0, M0; IIB: T4a, N0, M0; IIC: T4b, N0, M0. T3: Tumor invades through the muscularis propria into pericolorectal tissues. T4a: Tumor invades through the visceral peritoneum (including gross perforation of the bowel through tumor and continuous invasion of tumor through areas of inflammation to the surface of the visceral peritoneum). T4b: Tumor directly invades or adheres to adjacent organs or structures. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4528668|Acute myeloid leukemia that does not respond to treatment.|NCI|N|
C4528669|Hepatocellular carcinoma with solitary tumor equal to or less than 2 cm. (from AJCC 8th Ed.)|NCI|N|
C4528671|Stage II includes: T2, N0, M0. T2: Solitary tumor larger than 2 cm with vascular invasion, or multiple tumors, none larger than 5 cm. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4528672|Intrahepatic bile duct cancer with no evidence of primary tumor. (from AJCC 8th Ed.)|NCI|N|
C4528673|A pathologic finding about one or more characteristics of perihilar bile duct cancer, following the rules of the TNM AJCC v8 classification system as they pertain to distant metastases.|NCI|N|
C4528674|A pathologic finding about one or more characteristics of distal bile duct cancer, following the rules of the TNM AJCC v8 classification system as they pertain to staging of the primary tumor.|NCI|N|
C4528676|Ampulla of Vater cancer in which the primary tumor cannot be assessed. (from AJCC 8th Ed.)|NCI|N|
C4528677|Exocrine pancreatic cancer in which the primary tumor cannot be assessed. (from AJCC 8th Ed.)|NCI|N|
C4528681|A response indicating that an individual is or was very full of energy, with lots of pep.|NCI|N|
C4528684|A molecular genetic abnormality indicating the presence of a mutation in exon 3 of the KRAS gene.|NCI|N|
C4528694|A clinical finding about one or more characteristics of Merkel cell carcinoma, following the rules of the TNM AJCC v8 classification system as they pertain to staging of regional lymph nodes.|NCI|N|
C4528695|Stage IIIA includes: (T1-4, N1a(sn) or N1a, M0); (T0, N1b, M0). T0: No evidence of primary tumor. T1: Maximum clinical tumor diameter equal to or less than 2 cm. T2: Maximum clinical tumor diameter more than 2 cm but equal to or less than 5 cm. T3: Maximum clinical tumor diameter more than 5 cm. T4: Primary tumor invades fascia, muscle, cartilage, or bone. N1a(sn): Clinically occult regional lymph node metastasis identified only by sentinel lymph node biopsy. N1a: Clinically occult regional lymph node metastasis following lymph node dissection. N1b: Clinically and/or radiologically detected regional lymph node metastasis, microscopically confirmed. M0: No distant metastasis detected on clinical and/or radiologic examination. (AJCC 8th ed.)|NCI|N|
C4528697|Cutaneous melanoma with evidence of distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4528698|Cutaneous melanoma with one clinically occult nodal metastasis (i.e., detected by sentinel lymph node biopsy). Presence of in-transit, satellite, and/or microsatellite metastases: No. (from AJCC 8th Ed.)|NCI|N|
C4528699|A transmissible neoplastic disease that occurs in the Tasmanian devil. It is spread by biting and is characterized by tumors on the face and mouth.|NCI|N|
C4528701|A term that refers to the pathologic staging of cutaneous melanoma, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4528702|A change in the nucleotide sequence of the DICER1 gene.|NCI|N|
C4528707|A change in the nucleotide sequence of the ERBB3 gene.|NCI|N|
C4528708|A subjective response indicating that an individual has or had no urinary control.|NCI|N|
C4528714|An insertion of the amino acid sequence asparagine-proline-histidine between the proline at position 772 and the histidine at position 773 of the epidermal growth factor receptor protein.|NCI|N|
C4528715|A response indicating than an individual is or was as good as others.|NCI|N|
C4528723|An increase in the amount of bone tissue as compared to a standard or norm.|NCI|N|
C4528726|The numerical value that represents the result of a clinical assessment of muscle strength and function during abduction that is based on the Medical Research Council Manual Muscle Test. (Medical Research Council. Aids to examination of the peripheral nervous system. Memorandum no. 45, superseding War Memorandum No. 7. London: Her Majesty''s Stationary Office; 1976. doi:10.1016/0022-510X(77)90205-2).|NCI|N|
C4528728|An International Prognostic Scoring System for Myelodysplastic Syndrome risk score greater than or equal to 2.5, corresponding to high risk.|NCI|N|
C4528729|Breast cancer in which no regional lymph node metastasis is identified or isolated tumor cell clusters (ITCs) are identified only. (from AJCC 8th Ed.)|NCI|N|
C4528735|Vulvar cancer with distant metastasis (including pelvic lymph node metastasis). (from AJCC 8th Ed.)|NCI|N|
C4528736|Vulvar cancer with no regional lymph node metastasis. (from AJCC 8th Ed.)|NCI|N|
C4528737|Stage IV includes: T1-T3, N3, M0-M1. T1: Tumor confined to the vulva and/or perineum. Multifocal lesions should be designated as such. The largest lesion or the lesion with the greatest depth of invasion will be the target lesion identified to address the highest pT stage. Depth of invasion is defined as the measurement of the tumor from the epithelial-stromal junction of the adjacent most superficial dermal papilla to the deepest point of invasion. T2: Tumor of any size with extension to adjacent perineal structures (lower/distal third of the urethra, lower/distal third of the vagina, anal involvement). T3: Tumor of any size with extension to any of the following: upper/proximal two-thirds of the urethra, upper/proximal two-thirds of the vagina, bladder mucosa, or rectal mucosa; or fixed to pelvic bone. N3: Fixed or ulcerated regional lymph node metastasis. M0: No distant metastasis. M1: Distant metastasis (including pelvic lymph node metastasis). (from AJCC 8th Ed.)|NCI|N|
C4528742|Stage II includes: IIA: (T2b, N0, M0); (T3a, N0, M0); IIB: (T3b, N0, M0); (T4a, N0, M0); IIC: (T4b, N0, M0). T2b: Cutaneous melanoma with a tumor measuring 1.01-2.0 mm in thickness, with ulceration. T3a: Cutaneous melanoma with a tumor measuring 2.01-4.0 mm in thickness, without ulceration. T3b: Cutaneous melanoma with a tumor measuring 2.01-4.0 mm in thickness, with ulceration. T4a: Cutaneous melanoma with a tumor measuring more than 4.0 mm in thickness, without ulceration. T4b: Cutaneous melanoma with a tumor measuring more than 4.0 mm in thickness, with ulceration. N0: No regional lymph node metastases. M0: No detectable evidence of distant metastases. (from AJCC 6th and 7th Ed.)|NCI|N|
C4528743|High risk myelodysplastic syndrome that does not respond to treatment.|NCI|N|
C4528744|A finding of 4-7 mitoses per mm2 (8-14 per 10 hpf).|NCI|N|
C4528745|Mucosal melanoma of the head and neck in which the regional lymph nodes cannot be assessed. (from AJCC 8th Ed.)|NCI|N|
C4528746|Extranodal diffuse large B-cell lymphoma that is resistant to treatment.|NCI|N|
C4528747|The reemergence of an atypical teratoid/rhabdoid tumor after a period of remission.|NCI|N|
C4528748|Adenocarcinoma arising in the colon of a tamarin.|NCI|N|
C4528749|A tumor arising from histiocytes and dendritic cells and occurring in a mouse.|NCI|N|
C4528751|Mantle cell lymphoma involving the peripheral blood, bone marrow, and often spleen. It usually has an indolent clinical course.|NCI|N|
C4528752|Colorectal neuroendocrine tumor without evidence of distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4528753|Stage IIA includes: T2, N0, M0. T2: Tumor invading the muscularis propria or measuring more than 2 cm with invasion of the lamina propria or submucosa. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4528754|Appendiceal carcinoma with metastasis to sites other than peritoneum. (from AJCC 8th Ed.)|NCI|N|
C4528755|Stage IIC includes: T4b, N0, M0. T4b: Tumor directly invades or adheres to adjacent organs or structures. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4528756|Stage IIIA includes: (T1-T2, N1/N1c, M0); (T1, N2a, M0). T1: Tumor invades the submucosa (through the muscularis mucosa but not into the muscularis propria). T2: Tumor invades the muscularis propria. N1: One to three regional lymph nodes are positive (tumor in lymph nodes measuring 0.2 mm or more), or any number of tumor deposits are present and all identifiable lymph nodes are negative. N1c: No regional lymph nodes are positive, but there are tumor deposits in the subserosa, mesentery, or nonperitonealized pericolic, or perirectal/mesorectal tissues. N2a: Four to six regional lymph nodes are positive. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4528757|A red-pigmented tumor that occurs in a goldfish.|NCI|N|
C4528759|Stage IIIA includes: T3, N0, M0. T3: Tumor perforating the visceral peritoneum. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4528760|Thymic tumor with pleural, pericardial, or distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4528762|Pleural malignant mesothelioma with tumor limited to the ipsilateral parietal with or without involvement of visceral pleura, mediastinal pleura, and diaphragmatic pleura. (from AJCC 8th Ed.)|NCI|N|
C4528763|Lung cancer with tumor measuring more than 4 cm but 5 cm or less in greatest dimension. (from AJCC 8th Ed.)|NCI|N|
C4528765|Pelvis cancer in which the primary tumor cannot be assessed. (from AJCC 8th Ed.)|NCI|N|
C4528766|Soft tissue sarcoma of the trunk and extremities without distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4531024|Deposits accumulating between the outer retina and the retinal pigment epithelium.|HPO|N|
C4531025|A deviation from the normal level of major histocompatibility complex class II molecules expressed at the cell surface.|HPO|N|
C4531026|The concentration of ribitol in the blood circulation is above the upper limit of normal.|HPO|N|
C4531027|A deviation from the normal concentration in the circulation of sex hormone-binding globulin, a circulating glycoprotein that transports testosterone and other steroids in the blood.|HPO|N|
C4531028|Any deviation from the normal quantity of secretion of nasal mucus, a thick viscous liquid produced by the mucous membranes of the nose.|HPO|N|
C4531029|Symmetrical thickening, tightening and induration of the skin of the fingers and the skin proximal to the metacarpophalangeal or metatarsophalangeal joints. These changes can involve the entire limb, face, neck and trunk.|HPO|N|
C4531030|Any structural anomaly of the hollow epithelial tube found on the dorsal side of the vertebrate embryo that develops into the central nervous system (i.e. brain and spinal cord).|HPO|N|
C4531031|Any structural anomaly of the bile-secreting organ that is important for detoxification, for fat, carbohydrate, and protein metabolism, and for glycogen storage.|HPO|N|
C4531032|Any abnormality in the activation of T cells, i.e. the change in morphology and behavior of a mature or immature T cell resulting from exposure to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific.|HPO|N|
C4531033|An abnormally increased thickness of a leaflet of the aortic valve.|HPO|N|
C4531034|Any structural anomaly of the aortic valve leaflets.|HPO|N|
C4531035|Any structural anomaly of the pulmonary valve leaflets.|HPO|N|
C4531036|An abnormality in which the abdominal organs are positioned in such a way with respect to each other and the left-right axis as to be not clearly lateralised and thus have neither the usual, or normal (situs solitus), nor the mirror-imaged (situs inversus) arrangements.|HPO|N|
C4531037|An anomalous mirror-imaged arrangement of some bronchial structures. Right isomerism is defined as a subset of heterotaxy where some paired structures on opposite sides of the left-right axis of the body are symmetrical mirror images of each other, and have the morphology of the normal right-sided structures (vice versa for left isomerism).|HPO|N|
C4531038|A type of double aortic arch in which the two branches are of equal size. In most cases of double aortic arch, the right aortic arch is larger and located higher than the left aortic arch.|HPO|N|
C4531039|An abnormal communication between the terminus of a coronary artery, bypassing the myocardial capillary bed and entering the right ventricle.|HPO|N|
C4531040|An abnormal communication between coronary artery and a cardiac chamber.|HPO|N|
C4531041|Reduced level of CD16 on the fibroblast surface as assessed by flow cytometry.|HPO|N|
C4531042|Reduced level of CD59 on the fibroblast surface as assessed by flow cytometry.|HPO|N|
C4531043|Reduced level of CD55 on the fibroblast surface as assessed by flow cytometry.|HPO|N|
C4531044|Reduced level of CD16 on the granulocyte surface as assessed by flow cytometry.|HPO|N|
C4531045|Reduced level of CD59 on the granulocyte surface as assessed by flow cytometry.|HPO|N|
C4531046|Reduced level of CD55 on the granulocyte surface as assessed by flow cytometry.|HPO|N|
C4531047|Reduced level of a protein that is normally present on the granulocyte surface as assessed by flow cytometry.|HPO|N|
C4531048|Reduced level of a protein that is normally present on the fibroblast surface as assessed by flow cytometry.|HPO|N|
C4531049|Reduced level of a protein that is normally present on the cell surface as assessed by flow cytometry.|HPO|N|
C4531050|Any abnormal result of flow cytometry, a method that suspends cells in a stream of fluid and passes them through an electronic detection apparatus in order to assess cell count or measure biomarkers or surface molecules.|HPO|N|
C4531051|Any anomaly of the time interval between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG).|HPO|N|
C4531052|Reduced level of T cell receptor excision circle (TRECs) as measured by the TREC assay. Late in maturation, 70% of thymocytes that will ultimately express alpha/beta-T cell receptors form a circular DNA TREC from the excised TCRdelta gene that lies within the TCRalpha genetic locus. The circles are stable but do not increase following cell division and, therefore, become diluted as T cells proliferate. A quantitative polymerase chain reaction (PCR) reaction across the joint of the circular DNA provides the TREC copy number, a marker of newly-formed, antigenically-naïve thymic emigrant T cells.|HPO|N|
C4531053|An elevated level of propionylcarnitine in the circulation. Propionylcarnitine is present in high abundance in the urine of patients with Methylmalonyl-CoA mutase (MUT) deficiency.|HPO|N|
C4531054|Muscle fibers contain one or more vacuoles (membrane-bound cavity) associated with collections of membranes arranged in a whorl-like (spiral or circular) manner.|HPO|N|
C4531055|Presence of complement C3 in the dermoepidermal junction that are distributed in a linear pattern. This feature can be appreciated by immunofluorescence microscopy.|HPO|N|
C4531056|Presence of IgG antibodies in the dermoepidermal junction that are distributed in a linear pattern. This feature can be appreciated by immunofluorescence microscopy.|HPO|N|
C4531057|Presence of IgA antibodies in the dermoepidermal junction that are distributed in a linear pattern. This feature can be appreciated by immunofluorescence microscopy.|HPO|N|
C4531058|Any anomaly of the structure of the acellular zone that is between the dermis and the epidermis and which functions to bind the epidermis to the dermis and to serve as a selective barrier allowing the control of molecular and cellular exchanges between the two compartments.|HPO|N|
C4531059|Anomalous coronary origin whereby the left anterior descending (LAD) and the left circumflex artery (LCX) arise separately. Normally, these arteries arise from a common stem, the left main coronary artery (LMCA).|HPO|N|
C4531060|Increased frequency of theta wave activity in the electroencephalogram. Theta waves have a frequency of 3.5-7.5 Hertz, and are present in very small amounts in healthy waking adult EEGs. Theta activity is normal in small very amounts in the healthy waking adult EEG in a symmetrical distribution.|HPO|N|
C4531061|An abnormally increased ability to bend (dorsiflex) one's fifth finger. To assess this feature, the examiner requests to proband to extend the elbows,to bend the wrist back so that it forms a ninety degree angle to the forearm, and to extend the fingers. Then, the proband is requested to bend the fifth finger back as far as is possible without discomfort. If the angle of the fifth finger exceeds 90 degrees, this is considered to be abnormal.|HPO|N|
C4531062|Deposits accumulating between the retinal pigment epithelium and Bruch's membrane and that are distributed in multiple foci.|HPO|N|
C4531063|Deposits accumulating between the retinal pigment epithelium and Bruch's membrane and that are distributed in a single focus.|HPO|N|
C4531064|Deposits accumulating between the retinal pigment epithelium and Bruch's membrane.|HPO|N|
C4531065|Deposits accumulating between the outer retina and the retinal pigment epithelium and that are distributed with multiple foci.|HPO|N|
C4531066|Deposits accumulating between the outer retina and the retinal pigment epithelium and that have a focal distribution.|HPO|N|
C4531067|Edema/fluid accumulating within the retinal layers.|HPO|N|
C4531068|An anomaly of collagen fibers of the skin that is said to resemble a cauliflower and can be appreciated by electron microscopy.|HPO|N|
C4531069|Lack of normal alpha rhythm in the EEG. Alpha rhythm has been defined as a rhythm at 8-13 Hz occurring during wakefulness over the posterior regions of the head, generally with higher voltage over the occipital areas. Amplitude is variable but is mostly below 50 microvolt in adults. It is best seen with eyes closed and under conditions of physical relaxation and relative mental inactivity. It is blocked or attenuated by attention, especially visual and mental effort. One should here note the difference between the terms alpha rhythm and alpha activity|HPO|N|
C4531070|Any anomaly of meiosis, a type of cell division that reduces the number of chromosomes in the parent cell by half and produces four gamete cells.|HPO|N|
C4531071|An abnormally elevated proportion of exhausted T cells (Tex) among circulating T cells. T cell exhaustion is a distinct differentiation state that can be distinguished from naive, effector, and memory T cells. Compared to effector (TE) and memory (TMEM) T cells, exhausted T cells (TEX) display impaired effector functions (e.g., rapid production of effector cytokines, cytotoxicity). TEX have limited proliferative potential, especially compared to some subsets of TMEM and naive T cells.|HPO|N|
C4531072|Fusiform collagen fibers with abnormally long spacing (exceeding 100 nm) between electron-dense bands.|HPO|N|
C4531074|Diagonal earlobe creases run from the lower pole of the external meatus, diagonally backwards to the edge of the lobe at approximately 45 degrees.|HPO|N|
C4531075|A transverse linear fissure (crease) in the lobule of the ear.|HPO|N|
C4531076|Abnormally dry skin in the area of the nipple of the breast.|HPO|N|
C4531077|Any deviation from the normal range of the hormones produced by the thyroid gland.|HPO|N|
C4531078|A reduction below the normal concentration of thyroxine in the blood. Thyroxine (also known as T4) is the main hormone secreted by the thyroid gland into the blood. It can be converted into the active form triiodothyronine (also known as T3).|HPO|N|
C4531079|An elevation above the normal concentration of thyroxine in the blood. Thyroxine (also known as T4) is the main hormone secreted by the thyroid gland into the blood. It can be converted into the active form triiodothyronine (also known as T3).|HPO|N|
C4531080|A deviation from the normal concentration of thyroxine in the blood. Thyroxine (also known as T4) is the main hormone secreted by the thyroid gland into the blood. It can be converted into the active form triiodothyronine (also known as T3).|HPO|N|
C4531081|Waking up at night gasping for breath.|HPO|N|
C4531082|An epithelial neoplasm originating in the appendix and often associated with cystic dilation of the appendix due to accumulation of gelatinous material, morphologically referred to as mucoceles.|HPO|N|
C4531083|A poorly differentiated type of gastric carcinoma with a substantial amount of extracellular mucus (over 50% of tumor volume) within the tumor.|HPO|N|
C4531084|A subtype of colorectal carcinoma with mucin lakes.|HPO|N|
C4531085|Mucin-producing and septated cyst-forming epithelial neoplasia of the pancreas with a distinctive ovarian-type stroma.|HPO|N|
C4531086|A vascular malformation located in the lip that is related to vascular endothelial cell hyperplasia.|HPO|N|
C4531087|A vascular malformation located in the lip that is related to abnormal vascular morphogenesis.|HPO|N|
C4531088|A vascular malformation located in the lip that is characterized by direct blood shunting from an artery to a vein due to the absence of a capillary bed. The artery and vein can be directly connected by a fistula or indirectly connected by an abnormal vessel channel termed a nidus.|HPO|N|
C4531089|A vascular malformation located in the lip that is characterized by ectatic papillary dermal capillaries and postcapillary venules in the upper reticular dermis.|HPO|N|
C4531090|An anomaly of blood vessels located in the lip.|HPO|N|
C4531091|A form of hemolytic anemia that can be triggered by cold temperatures.|HPO|N|
C4531092|Reduced wall motion (contraction) of the apex of the left ventricle. This manifestation can be observed on echocardiography.|HPO|N|
C4531093|A wall motion abnormality observed upon left ventricular contraction that affects a specific region of the left ventricle.|HPO|N|
C4531094|Any functional anomaly of the mitral valve.|HPO|N|
C4531095|Any structural anomaly of the leaflets (also known as cusps) of the mitral valve.|HPO|N|
C4531096|Any structural anomaly of the annulus of the mitral valve. The annulus is a ring composed of fibrous and myocardial tissue and is the structure onto which the cusps of the valve attach.|HPO|N|
C4531098|Any structural anomaly of the cells of the mucosa of the oral cavity in the region of the cheek (buccal mucosa cells).|HPO|N|
C4531099|Fears of rejection by and/or separation from significant others are associated with fears of excessive dependency and complete loss of autonomy.|HPO|N|
C4531100|A tendency to experience negative emotions, i.e., a disposition to experience aversive emotional states.|HPO|N|
C4531101|A maladaptive personality trait characterized by moderate or greater impairment in personality (self /interpersonal) functioning.|HPO|N|
C4531102|A structural anomaly of vasa vasorum, which are defined as small blood vessels that supply or drain the walls of larger arteries and veins, delivering nutrients and oxygen as well as removing systemic waste products.|HPO|N|
C4531103|Abnormal reduction in length of a tendon which tends to pull (retract) the attached muscle tissue with shortening of the muscle fibers often accompanied by atrophy and fatty degeneration of the affected muscle tissue.|HPO|N|
C4531104|Opacity refers to any area that preferentially attenuates the x-ray beam and therefore appears more opaque than the surrounding area. It is a nonspecific term that does not indicate the size or pathologic nature of the abnormality.|HPO|N|
C4531105|A gangioleneuroma originating from sympathetic ganglion cells in the abdomen.|HPO|N|
C4531106|Mutliple lesions of the oral mucosa resembling those characteristic of the disease lichen planus. These are symmetric reticular lesions that resemble a white, lacelike network, as well as by papules, plaques, erythematous lesions, and erosions.|HPO|N|
C4531107|Mutliple skin lesions resembling those characteristic of the disease lichen planus. These lesions are violaceous (reddish-purple), shiny, isolated, flat-topped papules and plaques.|HPO|N|
C4531108|An abnormal increase in the amount of subcutaneous fat in the legs.|HPO|N|
C4531110|Hemangioma, a benign tumor of the vascular endothelial cells, located in the perineal region, i.e., the region between the anus and the genitals.|HPO|N|
C4531111|Multiple vesicles distributed in multiple distinct groups consisting of multiple adjacent vesicles.|HPO|N|
C4531112|Multiple pigmented macules located on the skin of the penis.|HPO|N|
C4531113|A palpable, solid lesion greater than 5mm in diameter. that is located in the mucosa of the mouth.|HPO|N|
C4531114|An increase in the diameter of the ring (annulus) of the tricuspid valve.|HPO|N|
C4531115|Any structural anomaly of the leaflets (also known as cusps) of the tricuspid valve.|HPO|N|
C4531116|Any structural anomaly of the chordae tendinae of the tricuspid valve. The chordae tendineae connect the papillary muscles to the tricuspid valve.|HPO|N|
C4531117|Any structural anomaly of the annulus of the tricuspid valve. The annulus is a ring composed of fibrous and myocardial tissue and is the structure onto which the cusps of the valve attach.|HPO|N|
C4531119|A deviation from the normal concentration in the circulation of angiostatin, an endogenous angiogenesis inhibitor, which blocks the growth of new blood vessels.|HPO|N|
C4531121|A speech pattern characterized by an abnormal lack of tone in the voice.|HPO|N|
C4531125|A reduced level of osteocalcin in the blood.|HPO|N|
C4531126|An elevated level of osteocalcin in the blood.|HPO|N|
C4531127|A deviation from the normal concentration of osteocalcin in the blood circulation.|HPO|N|
C4531128|A reduction from the normal concentration of beta-C-terminal telopeptide of type I collagen in the blood circulation.|HPO|N|
C4531129|A abnormal elevation above the normal concentration of beta-C-terminal telopeptide of type I collagen in the blood circulation.|HPO|N|
C4531130|A deviation from the normal concentration of beta-C-terminal telopeptide of type I collagen in the blood circulation, a marker of the rate of bone turnover.|HPO|N|
C4531131|Reduced size of the cerebellar cortex.|HPO|N|
C4531132|Any structural anomaly of the cortex of the cerebellum.|HPO|N|
C4531133|Reduced size of the superior frontal portion of the cerebral cortex.|HPO|N|
C4531134|A lesion that is observed following light damage to the macula. Damage to the retinal by exposure to intense visible light, usually the sun. Intense light exposure such as staring at the sun causes fine structural anomalies in the outer segments of the photoreceptors and the retinal pigment epithelium (RPE) cells of the macula. Symptoms usually develop within 1 to 4 h after exposure and include decreased vision, metamorphopsia, micropsia, and central or paracentral scotomas. Fundus examination typically shows a small yellow spot with a surrounding gray zone in the foveolar or parafoveolar area. Spontaneous evolution leads to the improvement of visual acuity.|HPO|N|
C4531135|A decreased concentration of sex-hormone binding protein in the circulation.|HPO|N|
C4531136|An increased concentration of calcitriol in the blood. Calcitriol is also known as 1,25-dihydroxycholecalciferol or 1,25-dihydroxyvitamin D3.|HPO|N|
C4531137|An increased concentration of calcifediol in the blood. Calcifediol is also known as 25-hydroxycholecalciferol or 25-Hydroxyvitamin D3.|HPO|N|
C4531138|An abnormal reduction in telomere length. Telomeres are non-coding, repetitive sequences of DNA at the ends of the chromosomes of eukaryotic cells which become shorter as cells divide, and when telomere attrition reaches its limit, cell proliferation arrest, senescence, and apoptosis can occur.|HPO|N|
C4531140|Any structural anomaly of a chromosome, which is a thread like molecule consisting of DNA and proteins (chromatin) that contains DNA sequences for genes and other genetic elements in linear order.|HPO|N|
C4531141|An abnormal distribution in the number of CD56 bright NK cells, as measured by flow cytometry. CD56, an adhesion molecule mediating homotypic adhesion, is used as a functional marker for NK cells.|HPO|N|
C4531142|Any anomaly of lymphocyte function.|HPO|N|
C4531143|An increased proportion of mast cells are positive for the cell surface marker CD25 (also called interleukin-2 receptor alpha chain).|HPO|N|
C4531144|A defect or impairment in the series of molecular signals initiated by the binding of a cytokine to a receptor on the surface of a cell, and ending with regulation of a downstream cellular process, e.g. transcription.|HPO|N|
C4531145|Any abnormality in the series of molecular signals initiated by the binding of a cytokine to a receptor on the surface of a cell, and ending with regulation of a downstream cellular process, e.g. transcription.|HPO|N|
C4531146|An impaired immune response mediated by cells expressing specific receptors for antigen produced through a somatic diversification process, and allowing for an enhanced secondary response to subsequent exposures to the same antigen (immunological memory).|HPO|N|
C4531147|Impaired response of CD8 T cells to pathogens. CD8 T cells direct the killing of a target cell through the release of granules containing cytotoxic mediators or through the engagement of death receptors.|HPO|N|
C4531148|Impaired proliferation and expansion of a T cell population following activation by an antigenic stimulus.|HPO|N|
C4531149|An abnormally decreased proportion of CD4-negative, CD8-negative (double negative or DN) alpha-beta regulatory T cells (Tregs) as compared to total number of T cells.|HPO|N|
C4531150|An abnormal proportion of CD4-negative, CD8-negative (double negative or DN) alpha-beta regulatory T cells (Tregs) as compared to total number of T cells.|HPO|N|
C4531151|An abnormally increased proportion of naive T cells relative to the total number of T cells.|HPO|N|
C4531152|An abnormally decreased proportion of naive T cells relative to the total number of T cells.|HPO|N|
C4531153|Any abnormality in the proportion of naive T cells relative to the total number of T cells.|HPO|N|
C4531154|Any abnormality in the relative amount of CD4+ and CD8+ T lymphocytes.|HPO|N|
C4531155|Any abnormality in the proportion of CD8 T cells relative to the total number of T cells.|HPO|N|
C4531156|Any abnormality in the proportion of CD4-positive T cells relative to the total number of T cells.|HPO|N|
C4531157|An increase above the normal level of major histocompatibility complex class II molecules expressed at the cell surface.|HPO|N|
C4531158|A reduction from the normal level of major histocompatibility complex class II molecules expressed at the cell surface.|HPO|N|
C4531159|The presence of megakaryocytes in the bone marrow whose nuclei are more lobulated than expected for the size of the nucleus.|HPO|N|
C4531160|The presence of abnormally high numbers of multinucleated megakaryocytes in the bone marrow.|HPO|N|
C4531161|The presence of abnormally high numbers of micromegakaryocytes in the bone marrow. Micromegakaryocytes are mononuclear diploid cells, with a nucleus similar in size to that of a myeloblast or promyelocyte with the cell being less than 30 micrometers in diameter.|HPO|N|
C4531162|The presence of megakaryocytes in the bone marrow whose nuclei are less lobulated than expected for the size of the nucleus.|HPO|N|
C4531163|A deficiency in the expression of the CD40 ligand on the surface of activated T-lymphocytes.|HPO|N|
C4531164|Abnormal amount of a protein that is normally present on the cell surface of lymphocytes.|HPO|N|
C4531165|A decreased proliferative response of lymphocytes in vitro or in vivo, when stimulated with an anti-CD3 antibody against the T-cell co-receptor, CD3.|HPO|N|
C4531166|A decreased proliferative response of lymphocytes in vitro or in vivo, when stimulated with mitogens, such as phytohemagglutinin (PHA).|HPO|N|
C4531167|Any abnormality in the multiplication or reproduction of B cells, which results in the expansion of a cell population.|HPO|N|
C4531168|Any abnormality in the multiplication or reproduction of T cells, which results in the expansion of a cell population.|HPO|N|
C4531169|Any abnormality in the multiplication or reproduction of lymphocytes, which results in the expansion of a cell population.|HPO|N|
C4531170|Any abnormality in the multiplication or reproduction of cells, which may result in the expansion of a cell population.|HPO|N|
C4531171|Increased rigidity and reduced mobility of the tongue.|HPO|N|
C4531172|Increased muscle weakness upon exposure to cold temperatures.|HPO|N|
C4531173|Purpura that is flat (non-palpable, not raised).|HPO|N|
C4531175|A solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter that is characterized by hardening (sclerosis) of the affected skin area (related to collagen thickening).|HPO|N|
C4531176|Individuals affected by abnormal difficulty in staying asleep tend to wake up at night and struggle to return to sleep. This condition typically involves spending more than 30 minutes awake during the night.|HPO|N|
C4531178|A non-neoplastic cardiac tumor characterized by calcification and eosinophilic amorphous material in the background of dense collagenous fibrous tissue.|HPO|N|
C4531179|An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the uterus.|HPO|N|
C4531180|An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the rectum.|HPO|N|
C4531181|An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the pelvis.|HPO|N|
C4531182|An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the jejunum.|HPO|N|
C4531183|A structural anomaly of lysosomes, membrane-enclosed organelles that contain an array of enzymes capable of catabolizing proteins, nucleic acids, carbohydrates, and lipids.|HPO|N|
C4531185|Anomalous staining of plakoglobin in cardiomyocytes. Plakoglobin is a component of desmosomes in cardiomyocytes.|HPO|N|
C4531186|Anomalous staining of Connexin43 in cardiomyocytes. Connexin43 (Cx43) is the primary gap junction protein in the working myocardium. Cx43 exhibits increased localization at the lateral membranes of cardiomyocytes in a variety of heart diseases.|HPO|N|
C4531187|Abnormal localization of mitochondria within the nuclei of cardiomyocytes.|HPO|N|
C4531188|An anomaly of the structure of mitochondria within cardiomyocytes.|HPO|N|
C4531189|Nuclear or cytoplasmic aggregates of stainable substances within cardiomyocytes.|HPO|N|
C4531190|A disruption of the structure of the sarcomeres of cardiomyocytes. The sarcomere is the repeating unit between two Z lines comprised largely of myosin and actin that mediates contractility, and normally sarcomeres are aligned with the long axis of cells, with the Z bands being in register throughout the length of the cardiac myocytes.|HPO|N|
C4531191|Deterioration of cardiomyocyte characterized by abnormal features such as loss of myofilaments, occurrence of cellular sequestration, decreased mitochondrial sizes and cellular debris.|HPO|N|
C4531192|Any structural anomaly of cardiomyocytes, which are terminally differentiated muscle cells in the heart that are interconnected end to end by gap junctions, which allows coordinated contraction of heart tissue.|HPO|N|
C4531193|An increase in the number of immune cells in myocardial tissue concentrated in the spaces surrounding blood vessels.|HPO|N|
C4531194|A type of myocardial fibrosis characterized by excessive diffuse collagen accumulation concentrated in interstitial spaces.|HPO|N|
C4531195|A type of myocardial fibrosis characterized by excessive diffuse collagen accumulation concentrated in perivascular spaces.|HPO|N|
C4531196|A type of cardiac amyloidosis related to deposition of transthyretin (TTR), which is identified by immunohistochemical staining.|HPO|N|
C4531197|A type of cardiac amyloidosis related to deposition of an immunoglobulin light chain. The current gold standard of amyloid typing is to determine the precursor protein using laser microdissection mass spectrometry.|HPO|N|
C4531198|The presence of multiple granulomata (small nodular inflammatory lesions containing grouped mononuclear phagocytes) in the myocardium.|HPO|N|
C4531199|The presence of extremely large cells with multiple nuclei. The so-called giant cells are thought to be of macrophage origin.|HPO|N|
C4531200|An increase in the number of eosinophils in myocardial tissue.|HPO|N|
C4531201|An increase in the number of lymphocytes in myocardial tissue.|HPO|N|
C4531202|An increase in the number of immune cells in myocardial tissue (which can be assumed to have migrated into the myocardium).|HPO|N|
C4531203|An abnormal increase in the number of mitochondria per cardiac myocyte.|HPO|N|
C4531204|Presence of an increased amount of fat tissue within a cardiac ventricle with corresponding reduction of muscle tissue.|HPO|N|
C4531205|A structural anomaly of the muscle layer of the heart wall of a cardiac ventricle.|HPO|N|
C4531206|An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the external carotid artery.|HPO|N|
C4531207|An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in abdominal aorta.|HPO|N|
C4531208|An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the middle cerebral artery.|HPO|N|
C4531209|An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the basilar artery.|HPO|N|
C4531210|An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the vertebral artery.|HPO|N|
C4531211|An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the internal carotid artery.|HPO|N|
C4531212|An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in an artery that is located within the skull (intracranial).|HPO|N|
C4531213|An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall of the tibial artery.|HPO|N|
C4531214|An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall of the iliac artery.|HPO|N|
C4531215|An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall of the femoral artery.|HPO|N|
C4531216|An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall of the leg.|HPO|N|
C4531217|An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall.|HPO|N|
C4531218|A deviation from the normal concentration of properdin in the blood.|HPO|N|
C4531219|An abnormal increase in magnitude of the pressure in the left atrium.|HPO|N|
C4531220|Abnormal increase in size of the coronary sinus.|HPO|N|
C4531221|An abnormal increase in the thickness of the atrial septum.|HPO|N|
C4531222|Underdeveloped, small right heart atrium.|HPO|N|
C4531223|Ichthyosis follicularis is characterized by widespread non inflammatory thorn-like follicular projections. Dyskeratotic papules are most pronounced over the extensor extremities and scalp and are symmetrically distributed.|HPO|N|
C4531224|The presence of verrucous, cobblestone-like papules and nodules in a region of skin that is said to have an appearance like that of cobblestones.|HPO|N|
C4531225|Redness surrounding the hair follicles.|HPO|N|
C4531226|Any structural anomaly in the areas surrounding the hair follicles.|HPO|N|
C4531227|The presence of tufts of 8-15 hairs that appear to emerge from a single follicular orifice.|HPO|N|
C4531228|A lateral deviation of the nail plate of the great toe along the longitudinal axis due to the lateral rotation of the nail matrix. The nail plate grows out in ridges.|HPO|N|
C4531229|An abnormally high amount of luteinizing hormone (LH) is released upon gonadotropin-releasing hormone stimulation test.|HPO|N|
C4531230|An abnormal response to the gonadotropin-releasing hormone (GnRH) stimulation test. This test typically involves intravenous administration of GnRH followed by repeated blood sampling at various time points to measure the levels of luteinizing hormone (LH) and follicle-stimulating hormone (FSH).|HPO|N|
C4531231|Any structural anomaly of the thoracic duct.|HPO|N|
C4531232|Accumulation of lipids and inflammatory cells along the inner walls of the pulmonary artery.|HPO|N|
C4531233|The pulsation of the posterior tibial artery behind the internal malleolus, or of the dorsalis pedis artery, cannot be detected on physical examination.|HPO|N|
C4531234|Decreased or impaired upregulation of CD25 on T cells after activation via the T cell receptor (TCR).|HPO|N|
C4531235|Any abnormality in the upregulation of CD25 on T cells after activation via the T cell receptor (TCR). CD25 is the alpha chain of the IL2 receptor. Ligation of the T cell antigen receptor leads to the induction of CD25 expression.|HPO|N|
C4531236|Reduced or impaired upregulation of CD69 on T cells after activation via the T cell receptor (TCR).|HPO|N|
C4531237|Any abnormality in the upregulation of CD69 on T cells after activation via the T cell receptor (TCR). Upregulation of CD69 is one of the earliest and most sensitive measures of antigen recognition in the periphery, and transient expression of CD69 is associated with positive selection in the thymus.|HPO|N|
C4531238|Any structural anomaly of the podocyte, which is a highly specialized cell of the Bowman capsule and which forms multiple interdigitating foot processes. Podocytes are interconnected by slit diaphragms and cover the exterior basement membrane surface of the glomerular capillary.|HPO|N|
C4531239|A structural anomaly of the double-walled capsule (Bowman capsule) that opens into a renal tubule.|HPO|N|
C4531240|Any anomolous structure of the renal corpuscle, which is the initial component of the nephron that filters blood. The renal corpuscle consists of a knot of capillaries (glomerulus) that is surrounded by a double-walled capsule (Bowman capsule) that opens into a renal tubule.|HPO|N|
C4531241|A short, dysplastic tibia with a triangular shape. Instead of the normal shaft configuration of the tibia, the tibia forms a triangle with the longest side corresponding to the proximal-distal dimension, and the apex of the triangle directed laterally.|HPO|N|
C4531242|An arteriovenous malformation is a disruption of the normal vascular pattern in which arteries or arterioles connect directly to the venous collection system, bypassing any capillary bed. This term refers to an arteriovenous malformation located in the maxilla.|HPO|N|
C4531243|An arteriovenous malformation is a disruption of the normal vascular pattern in which arteries or arterioles connect directly to the venous collection system, bypassing any capillary bed. This term refers to an arteriovenous malformation located in the optic nerve.|HPO|N|
C4531244|An arteriovenous malformation is a disruption of the normal vascular pattern in which arteries or arterioles connect directly to the venous collection system, bypassing any capillary bed. This term refers to an arteriovenous malformation located in the hypothalamus.|HPO|N|
C4531245|An arteriovenous malformation is a disruption of the normal vascular pattern in which arteries or arterioles connect directly to the venous collection system, bypassing any capillary bed. This term refers to an arteriovenous malformation located in the thalamus.|HPO|N|
C4531246|Origin of the left subclavian artery from an anomalous anatomical location.|HPO|N|
C4531247|Abnormally increased caliber of the left subclavian artery.|HPO|N|
C4531248|Any anomaly of a subclavian artery.|HPO|N|
C4531249|A reduction in the amount of very-low-density lipoprotein cholesterol in the blood.|HPO|N|
C4531250|Reduced plasma concentrations of chylomicrons, the large lipid droplet (up to 100 mm in diameter) of reprocessed lipid synthesized in epithelial cells of the small intestine and containing triacylglycerols, cholesterol esters, and several apolipoproteins.|HPO|N|
C4531251|A type of choroidal neovascularization in which the area of neovascularization overlaps with the center of the fovea.|HPO|N|
C4531252|A type of choroidal neovascularization in which the nearest edge of the area of neovascularization is located 1 to 199 micrometers from the center of the fovea.|HPO|N|
C4531253|A type of choroidal neovascularization in which the nearest edge of the area of neovascularization is located 200 to 1500 micrometers from the center of the fovea.|HPO|N|
C4531254|A histological alteration of muscle fibers that resembles a necklace (necklace fibers). A substantial proportion of fibers (4-20% in PMID:19084976) show internalized nuclei aligned in a basophilic ring (necklace) at 3 micrometers beneath the sarcolemma. Ultrastructurally, such necklaces consist of myofibrils of smaller diameter, in oblique orientation, surrounded by mitochondria, sarcoplasmic reticulum and glycogen granules.|HPO|N|
C4531255|An abnormally increased proportion of nuclei of sarcomeres with an internal localization. Individual muscle fibers are syncytia, formed by embryonic fusion of many myoblasts or later, myosatellite cells. Each muscle fiber contains many nuclei, peripherally positioned immediately adjacent to the sarcolemmal membrane. In healthy muscle only 3-5% of fibers contain nuclei that are located internally, within the cell, but many disease processes lead to internal nuclei.|HPO|N|
C4531256|Collection of neutrophils in the dermis.|HPO|N|
C4531257|Collection of neutrophils in the epidermis.|HPO|N|
C4531258|A predominantly neutrophilic infiltrate of the dermis and or epidermis (i.e., a large number of neutrophils inferred to have migrated into the skin).|HPO|N|
C4531259|Breadth of the incisura from the anterior to posterior border greater than that observed in the average population.|HPO|N|
C4531260|Width of the incisura from the anterior to posterior border less than that observed in the average population.|HPO|N|
C4531261|The length of the incisura from the upper to lower border is less than that observed in the average population.|HPO|N|
C4531262|The length of the incisura from the upper to lower border is greater than that observed in the average population.|HPO|N|
C4531263|An abnormal shape of the incisura, defined as the narrowed downward continuation of the conchal space bounded anteriorly by the borders of the tragus, posteriorly by the antitragus, and along its lower lateral margins and inferior boundary by the connection between the first two. The upper boundary is a somewhat arbitrary line crossing from the apices of the antitragus and the tragus.|HPO|N|
C4531264|A teratoma arising in the nasopharyngeal region.|HPO|N|
C4531265|Hyperplasia of the islets of Langerhans with a generalized distribution.|HPO|N|
C4531266|Hyperplasia of the islets of Langerhans that affects only certain regions of the pancreas and not others.|HPO|N|
C4531267|An elevated concentration of thyroxine-binding globulin (TBG) in the blood.|HPO|N|
C4531268|Any deviation from normal in the amount of uptake on the radioactive iodine uptake (RAIU) test, which utilizes a radioisotope of iodine to measure how much iodine the thyroid gland absorbs from the blood. The radioactive marker is measured 4-6 hours and in some cases also 24 hours after administration of the radioactive marker.|HPO|N|
C4531269|A decreased amount of uptake on the radioactive iodine uptake (RAIU) test, which utilizes a radioisotope of iodine to measure how much iodine the thyroid gland absorbs from the blood. The radioactive marker is measured 4-6 hours and in some cases also 24 hours after administration of the radioactive marker.|HPO|N|
C4531270|An elevated concentration of progesterone in the blood.|HPO|N|
C4531271|A reduced concentration of dehydroepiandrosterone-sulfate in the blood.|HPO|N|
C4531273|An increased level of 17-hydroxyprogesterone in the blood. 17-hydroxyprogesterone is an intermediate steroid in the adrenal biosynthetic pathway from cholesterol to cortisol and is the substrate for steroid 21-hydroxylase.|HPO|N|
C4531276|A deviation from the normal concentration of hyaluronic acid in the blood.|HPO|N|
C4531277|Reduction in the level of lipoprotein lipase in the blood.|HPO|N|
C4531278|An increased concentration of circulating alpha polypeptide of glycoprotein hormones (NCBI Gene 1081). This alpha subunit is common to luteinizing hormone (LH) , follicle stimulating hormone (FSH) , thyroid stimulating hormone (TSH) and human chorionic gonadotropin (hCG), which are glycoprotein hormones composed of an identical alpha subunit together with a beta subunit that confers biological specificity. The alpha subunit is used as a marker for tumors that produce these hormones.|HPO|N|
C4531279|Abnormally bright T2 signal from the striatum on brain magnetic resonance imaging.|HPO|N|
C4531280|Reduction in the activity of lysosomal acid lipase (LAL) in the blood. Lysosomal lipase activity is measured. LAL hydrolyzes cholesteryl esters derived from cell internalization of plasma lipoproteins.|HPO|N|
C4531281|A type of urinary cast that contain bacteria. Bacterial casts can be difficult to identify and can be distinguished from other types of casts using phase contrast microscopy. Bacterial casts are diagnostic of acute pyelonephritis or intrinsic renal infection.|HPO|N|
C4531282|A type of urinary cast composed of a proteinaceous matrix without a substantial number of cells.|HPO|N|
C4531283|A type of cellular urinary cast composed of renal tubular epithelial cells.|HPO|N|
C4531284|Reduced thickness of the outer, dense layer of the myocardium.|HPO|N|
C4531285|An increased number and density of the trabeculae in the apex (tip) of the left ventricle.|HPO|N|
C4531286|An increased density (number and tightness) of the muscular columns which project from the inner surface of the left ventricles of the heart (cardiac trabeculae, trabeculae carneae).|HPO|N|
C4531287|Any structural anomaly of the muscular columns which project from the inner surface of the right ventricle of the heart (cardiac trabeculae, trabeculae carneae).|HPO|N|
C4531288|Any structural anomaly of the muscular columns which project from the inner surface of the left ventricle of the heart (cardiac trabeculae, trabeculae carneae).|HPO|N|
C4531289|Numerous lymphocytes surrounding blood vessels in the deep part of the dermis.|HPO|N|
C4531290|Numerous lymphocytes surrounding blood vessels in the superfical part of the dermis.|HPO|N|
C4531291|Any anomaly of the function of the breast.|HPO|N|
C4531292|Any anomaly of the structure of the breast.|HPO|N|
C4531293|Telangiectasia (small dilated blood vessels) located near to the fingernails or toenails.|HPO|N|
C4531294|Subcutaneous bleeding with a diameter greater than 1 cm (ecchymosis). The bleeding does not extend into the tarsal plate (the comparatively thick, elongated plates of dense connective tissue within the eyelid) due to an anatomic structure called the orbital septum, which limits extravasation of blood beyond the tarsal plate.|HPO|N|
C4531295|Multiple red/purple spots on the skin that surrounds the eyes that do not blanch (whiten) upon pressure. Purpura is caused by subcutaneous bleeding.|HPO|N|
C4531296|Abnormal decussation of the visual pathways, typically identified using visual evoked potentials (VEP) (asymmetrical distribution of the VEP over the posterior scalp).|HPO|N|
C4531298|Any structural abnormality of the coronary arteries.|HPO|N|
C4531299|Peripheral arterial stenosis with onset before the age of 50 years.|HPO|N|
C4534364|A response indicating that a decision has or had not been made.|NCI|N|
C4534529|An individual who previously used oral contraceptives.|NCI|N|
C4534530|An individual who has never used oral contraceptives.|NCI|N|
C4534531|A subjective response indicating that something is often true.|NCI|N|
C4534532|A subjective response indicating that something is never true.|NCI|N|
C4538355|AIP familial isolated pituitary adenoma (AIP-FIPA) is defined as the presence of an AIP germline pathogenic variant in an individual with a pituitary adenoma (regardless of family history). The most commonly occurring pituitary adenomas in this disorder are growth hormone-secreting adenomas (somatotropinoma), followed by prolactin-secreting adenomas (prolactinoma), growth hormone and prolactin co-secreting adenomas (somatomammotropinoma), and nonfunctioning pituitary adenomas (NFPA). Rarely TSH-secreting adenomas (thyrotropinomas) are observed. Clinical findings result from excess hormone secretion, lack of hormone secretion, and/or mass effects (e.g., headaches, visual field loss). Within the same family, pituitary adenomas can be of the same or different type. Age of onset in AIP-FIPA is usually in the second or third decade.|GeneReviews|N|
C4538389|Disproportionately large eyelids|HPO|N|
C4538468|Marsili syndrome (MARSIS) is an autosomal dominant pain insensitivity disorder characterized by a lowered ability to sense pain, to experience temperature, and to sweat. Affected individuals do not perceive broken bones and burns as painful, and have lowered sensitivity to capsaicin. However, visceral pain (e.g., childbirth-related) and light touch are perceived (summary by Habib et al., 2018).|OMIM|N|
C4538540|Syringomyelia (Greek: 'syrinx,' pipe, and 'myelos,' marrow) is a tubular cavity in the spinal cord. It can occur sporadically in association with spinal cord tumors, inflammatory arachnoiditis, or posttraumatically. It is rarely idiopathic (less than 1% of cases). The vast majority of cases of syringomyelia are cervical, noncommunicating, and associated with an abnormality at the foramen magnum, particularly the Chiari malformation type I (CM1; 118420), as well as basilar impression (109500) and Dandy-Walker malformation (220200) (Speer et al., 2003; Levine, 2004); these cases have shown familial segregation.
The form of syringomyelia discussed here is 'noncommunicating' with the fourth ventricle, but may communicate with the subarachnoid space. In contrast, 'communicating' syringomyelia, or 'hydromelia,' opens rostrally into the fourth ventricle and almost always occurs in children with hydrocephalus, Chiari malformation type II (CM2; 207950), and spina bifida (see 182940) (Levine, 2004).|OMIM|N|
C4538570|A rare genetic disease characterized by CD55 deficiency with complement hyperactivation, angiopathic thrombosis and protein-losing enteropathy with abdominal pain, diarrhea, vomiting, primary intestinal lymphangiectasia, hypoproteinemic edema and malabsorption leading to anemia and growth delay. Bowel inflammation and recurrent infections associated with hypogammaglobulinemia may also be observed. Caused by homozygous mutation in the CD55 gene on chromosome 1q32.|SNOMEDCT_US|N|
C4538630|Diencephalic-mesencephalic junction dysplasia syndrome-1 (DMJDS1) is an autosomal recessive neurodevelopmental disorder characterized by progressive microcephaly, severely delayed or even absent psychomotor development with profound intellectual disability, and spasticity or dystonia. Some patients may have seizures and/or visual impairment. Brain imaging shows a characteristic developmental malformation of the midbrain; subtle intracranial calcifications may also be present (summary by Aran et al., 2016 and Guemez-Gamboa et al., 2018).
Genetic Heterogeneity of Diencephalic-Mesencephalic Junction Dysplasia Syndrome
See also DMJDS2 (618646), caused by mutation in the GSX2 gene (616253) on chromosome 4q12.|OMIM|N|
C4538784|Galloway-Mowat syndrome is a renal-neurologic disease characterized by early-onset nephrotic syndrome associated with microcephaly, gyral abnormalities of the brain, and delayed psychomotor development. Most patients have dysmorphic facial features, often including hypertelorism, ear abnormalities, and micrognathia. Other features, such as arachnodactyly and visual impairment, are more variable. Most patients die in the first years of life (summary by Braun et al., 2017).
For a general phenotypic description and a discussion of genetic heterogeneity of GAMOS, see GAMOS1 (251300).|OMIM|N|
C4538788|The Houge type of X-linked syndromic intellectual developmental disorder (MRXSHG) is characterized by delayed development, intellectual disability, speech and language delay, and early-onset seizures. EEG tends to show continuous spike-wave activity or centrotemporal spikes. Some patients may have remission of seizures by adolescence. Carrier females may be mildly affected (summary by Damiano et al., 2017).|OMIM|N|
C4538795|X-linked myopia-26 is characterized by female-limited early-onset high myopia. The fundus of affected individuals shows a tigroid appearance, and there is a temporal crescent of the optic nerve head (Xiao et al., 2016).
For a discussion of genetic heterogeneity of myopia, see 160700.|OMIM|N|
C4538849|The fetal spleen is lobulated, and these lobules normally disappear before the birth. Lobulation of the spleen may persist into adult life and be typically seen along the medial part of the spleen. A persisting lobule results in a variation in shape of the spleen.|HPO|N|
C4539078|An abnormality of the sternum that presents at birth as a ventral sternal non-union defect, due to an abnormality of the fusion of the layers of the skin. It presents as a scar-like line that extends upward from the umbilicus (belly button).|HPO|N|
C4539685|Both familial and sporadic pituitary adenomas have been found to be caused by germline mutation in the CDH23 gene. Familial pituitary adenoma types include growth hormone (GH)-secreting and nonfunctional tumors. Sporadic pituitary adenoma types include GH-secreting, nonfunctional, prolactin (PRL)-secreting, adrenocorticotropin (ACTH)-secreting, thyroid-stimulating hormone (TSH)-secreting, and plurihormonal (GH and TSH) tumors.
For a general description and a discussion of genetic heterogeneity of pituitary adenomas, see PITA1 (102200).|OMIM|N|
C4539733|Hippocampal malrotation, also termed incomplete inversion of the hippocampus or hippocampal malformation, is an increasingly recognized neuroimaging finding of undetermined clinical significance. It is characterized by features including (i) Round or pyramidal shape instead of ovoid shape; (ii) Medial position of the hippocampus on the hippocampal sulcus; (iii) The collateral sulcus is excessively deep or verticalized; (iv) Fimbria located medial to the hippocampus; (v) Small or displaced fornix; (vi) Enlarged temporal horn and empty choroid fissure; (vii) Thickened subiculum; (viii) Reduced upper horizontal portion of the parahippocampal gyrus.|HPO|N|
C4539783|Spermatogenic failure-18 is a form of male infertility caused by multiple morphologic abnormalities of the sperm flagella (Ben Khelifa et al., 2014).
For a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).|OMIM|N|
C4539786|Sperm cells lacking flagella.|HPO|N|
C4539787|Sperm cells with abnormally short flagella.|HPO|N|
C4539788|The proportion of sperm cells whose flagella is sharply curved or has a sharp angle is above normal limits.|HPO|N|
C4539789|Sperm cells whose flagella are twisted (coiled).|HPO|N|
C4539818|Spermatogenic failure-19 is characterized by multiple morphologic abnormalities of the flagella (MMAF), including absent, short, coiled, bent, and irregular-caliber flagella (Tang et al., 2017).
For a general phenotypic description and a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).|OMIM|N|
C4539824|Spermatogenic failure-20 is characterized by multiple morphologic abnormalities of the flagella, including absent, short, coiled, bent, and irregular-caliber flagella (Tang et al., 2017).
For a general phenotypic description and a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).|OMIM|N|
C4539828|Birk-Landau-Perez syndrome (BILAPES) is an autosomal recessive syndromic developmental disorder characterized by global developmental delay apparent from infancy or early childhood. Some patients have developmental regression with loss of speech and motor skills, whereas other patients never achieve these milestones. More variable features may include hypotonia, poor overall growth, ataxia, dystonia, abnormal eye movements, and renal insufficiency (Perez et al., 2017; Kleyner et al., 2022).|OMIM|N|
C4539839|MVA3 is an autosomal recessive disorder resulting from errors in chromosome segregation. Most affected individuals develop early-onset Wilms tumor and show either aneuploidy or premature chromatid separation in cells. Some patients may have additional developmental features, such as microcephaly, growth retardation, or developmental delay (summary by Yost et al., 2017).
For a discussion of genetic heterogeneity of MVA, see MVA1 (257300).|OMIM|N|
C4539843|Developmental and epileptic encephalopathy-55 (DEE55) is an autosomal recessive neurologic disorder characterized by onset of refractory seizures in the first weeks or months of life. Affected individuals have an extremely poor outcome, with profoundly impaired intellectual development, absent speech, spastic quadriplegia, and dyskinetic movements. Most have cortical visual impairment and require a feeding tube. Brain imaging shows nonspecific abnormalities, including cerebral atrophy, thin corpus callosum, and abnormal signals in the white matter. Death in childhood may occur. Biochemically, the disorder is associated with impaired synthesis of GPI-anchored proteins (summary by Vetro et al., 2020).
For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350.
For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (610293).|OMIM|N|
C4539857|Congenital heart defects and skeletal malformations syndrome (CHDSKM) is characterized by atrial and ventricular septal defects, with aortic root dilation in adulthood. Skeletal defects are variable and include pectus excavatum, scoliosis, and finger contractures, and some patients exhibit joint laxity. Failure to thrive is observed during infancy and early childhood (Wang et al., 2017).|OMIM|N|
C4539873|MISSLA is an autosomal recessive disorder characterized by intrauterine growth retardation, microcephaly, variable short stature, and limb abnormalities mainly affecting the upper limb and radial ray. Affected individuals typically have mild intellectual disability, but may have normal development (summary by Reynolds et al., 2017).|OMIM|N|
C4539891|Hypomineralized amelogenesis imperfecta type IIIB is characterized by enamel that is reduced in mineral density and is thin, chipped, and absent in places (Smith et al., 2016).|OMIM|N|
C4539896|NPHS15 is an autosomal recessive renal disorder characterized by onset of impaired kidney function with proteinuria in the first months of life. The disease course and severity varies widely. Some patients show rapid progression to end-stage renal failure necessitating transplant, whereas others have a more benign course that can be managed with medication. Renal biopsy tends to show glomerular sclerosis and effacement of podocyte foot processes (summary by Bierzynska et al., 2017).
For a discussion of genetic heterogeneity of nephrotic syndrome and FSGS, see NPHS1 (256300).|OMIM|N|
C4539903|PKD5, a form of autosomal recessive polycystic kidney disease (ARPKD), is characterized by early childhood onset of progressive renal dysfunction associated with enlarged hyperechogenic kidneys that often results in end-stage renal disease in the second or third decade of life. Arterial hypertension is apparent in early childhood (summary by Lu et al., 2017).
For a discussion of genetic heterogeneity of polycystic kidney disease, see PKD1 (173900).|OMIM|N|
C4539919|ISCA1-related multiple mitochondrial dysfunctions syndrome (ISCA1-MMDS) is a severe neurodegenerative condition typically characterized by either no attainment of developmental milestones or very early loss of achieved milestones, seizures in early infancy, development of spasticity with exaggerated deep tendon reflexes, nystagmus, and risk for sensorineural hearing loss. Affected individuals may also demonstrate elevated blood lactate levels with an elevated lipid-lactate peak on brain MR spectroscopy. Further brain MRI findings may include extensive cerebral and cerebellar deep white matter hyperintensities, marked dilatation of the cerebral ventricles, and pachygyria. Prognosis is poor and most individuals succumb to an intercurrent illness in early childhood.|GeneReviews|N|
C4539927|WDR26-related intellectual disability (ID) is characterized by developmental delay / intellectual disability, characteristic facial features, hypotonia, epilepsy, and infant feeding difficulties. To date 15 individuals, ages 24 months to 34 years, have been reported. Developmental delay is present in all individuals and ranges from mild to severe. All individuals have delayed speech. Although some begin to develop speech in the second year, others have remained nonverbal. Seizures, present in all affected individuals reported to date, can be febrile or non-febrile (tonic-clonic, absence, rolandic seizures); most seizures are self limited or respond well to standard treatment. Affected individuals are generally described as happy and socially engaging; several have stereotypies / autistic features (repetitive or rocking behavior, abnormal hand movements or posturing, and at times self-stimulation).|GeneReviews|N|
C4539938|A type of cerebellar dysplasia that affects the upper part of the cerebellar vermis.|HPO|N|
C4539942|Gingival fibromatosis-5 is an autosomal dominant benign overgrowth disorder characterized by slowly progressive fibrous enlargement of the keratinized gingival tissues. Affected individuals may have diastema, malposition of the teeth, and prolonged retention of primary teeth. Onset is in the first decade. Treatment by surgical resection is generally followed by regrowth of the gingival tissues (summary by Pehlivan et al., 2009).|OMIM|N|
C4539951|A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, variable degrees of intellectual disability, and facial dysmorphism (including high nasal bridge, deep-set eyes, and wide mouth), often associated with feeding difficulties and/or gastroesophageal reflux. Additional reported manifestations are seizures, hypotonia, autistic features, and joint laxity. Brain imaging may show non-specific features (such as cerebral atrophy).|ORDO|N|
C4539957|IMD11B is an autosomal dominant disorder of immune dysfunction characterized by onset of moderate to severe atopic dermatitis in early childhood. Some patients may have recurrent infections and other variable immune abnormalities. Laboratory studies show defects in T-cell activation, increased IgE, and eosinophilia (summary by Ma et al., 2017).|OMIM|N|
C4539968|CAKUTHED is an autosomal dominant highly pleiotropic developmental disorder characterized mainly by variable congenital anomalies of the kidney and urinary tract, sometimes resulting in renal dysfunction or failure, dysmorphic facial features, and abnormalities of the outer ear, often with hearing loss. Most patients have global developmental delay (summary by Heidet et al., 2017 and Slavotinek et al., 2017).|OMIM|N|
C4539976|Postaxial polydactyly type A7 (PAPA7) is an autosomal recessive disorder characterized by postaxial polydactyly and brachydactyly of the hands and/or feet. Features reported in some patients include syndactyly of the second and third digits of the feet, learning disabilities, and increased body weight (Umair et al., 2017; Estrada-Cuzcano et al., 2020).
For a discussion of genetic heterogeneity of postaxial polydactyly, see 174200.|OMIM|N|
C4539991|Spermatogenic failure-21 (SPGF21) is characterized by acephalic spermatozoa causing male infertility (Li et al., 2017).
For a general phenotypic description and a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).|OMIM|N|
C4540004|Vertebral, cardiac, renal, and limb defects syndrome-1 (VCRL1) is an autosomal recessive congenital malformation syndrome characterized by vertebral segmentation abnormalities, congenital cardiac defects, renal defects, and mild distal limb defects. Additional features are variable (summary by Shi et al., 2017).
Genetic Heterogeneity of Vertebral, Cardiac, Renal, and Limb Defects Syndrome
See also VCRL2 (617661), caused by mutation in the KYNU gene (605197) on chromosome 2q22, and VCRL3 (618845), caused by mutation in the NADSYN1 gene (608285) on chromosome 11q13.|OMIM|N|
C4540014|Vertebral, cardiac, renal, and limb defects syndrome-2 (VCRL2) is an autosomal recessive congenital malformation syndrome characterized by vertebral segmentation abnormalities, congenital cardiac defects, renal defects, and mild distal limb defects. Additional features are variable (summary by Shi et al., 2017).
For a discussion of genetic heterogeneity of VCRL, see VCRL1 (617660).|OMIM|N|
C4540020|A rare developmental defect with connective tissue involvement and characteristics of joint hyperextensibility and multiple dislocations of large joints, severe myopia and short stature. Other common features include retinal detachment, iris and chorioretinal coloboma, kyphoscoliosis and other spine deformities, pectus carinatum, talipes equinovarus and progressive hearing loss.|SNOMEDCT_US|N|
C4540029|Combined oxidative phosphorylation deficiency-32 is an autosomal recessive neurodegenerative disorder characterized by onset of delayed psychomotor development and developmental regression in infancy. Affected individuals have multiple variable symptoms, including poor or absent speech, inability to walk, and abnormal movements. Brain imaging shows T2-weighted abnormalities in the basal ganglia and brainstem consistent with Leigh syndrome (256000). Patient cells showed decreased activities of mitochondrial respiratory chain complexes, I, III, and IV, as well as impaired mitochondrial translation (summary by Lake et al., 2017).
For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060).|OMIM|N|
C4540031|A mitochondrial oxidative phosphorylation disorder in which multiple mitochondrial respiratory chain complexes.|MONDO|N|
C4540034|Developmental and epileptic encephalopathy-56 (DEE56) is a neurodevelopmental disorder characterized by early-onset seizures in most patients, followed by impaired intellectual development, variable behavioral abnormalities, and sometimes additional neurologic features, such as ataxia (summary by Guella et al., 2017).
For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350.|OMIM|N|
C4540036|Fraser syndrome is an autosomal recessive malformation disorder characterized by cryptophthalmos, syndactyly, and abnormalities of the respiratory and urogenital tract (summary by van Haelst et al., 2008).
For a general phenotypic description and a discussion of genetic heterogeneity of Fraser syndrome, see 219000.|OMIM|N|
C4540040|Fraser syndrome is an autosomal recessive malformation disorder characterized by cryptophthalmos, syndactyly, and abnormalities of the respiratory and urogenital tract (summary by van Haelst et al., 2008).
For a general phenotypic description and a discussion of genetic heterogeneity of Fraser syndrome, see 219000.|OMIM|N|
C4540052|NELABA is a severe autosomal recessive metabolic disorder characterized by onset at birth of progressive encephalopathy associated with increased serum lactate. Affected individuals have little or no psychomotor development and show brain abnormalities, including cerebral atrophy, cysts, and white matter abnormalities. Some patients die in infancy (summary by Habarou et al., 2017).|OMIM|N|
C4540086|Childhood-onset neurodegeneration with brain atrophy (CONDBA) is a severe progressive neurodegenerative disorder characterized by loss of motor and cognitive skills between ages 2 and 7 years. Affected individuals may have normal development or mild developmental delay, but all eventually lose all motor skills, resulting in inability to walk, absence of language, and profound intellectual disability. Brain imaging shows progressive cerebral and cerebellar atrophy (summary by Edvardson et al., 2017).|OMIM|N|
C4540096|Mitochondrial myopathy and ataxia (MMYAT) is an autosomal recessive mtDNA depletion disorder characterized by cerebellar ataxia, congenital muscle involvement with histologic findings ranging from myopathic to dystrophic, and pigmentary retinopathy (summary by Donkervoort et al., 2019).|OMIM|N|
C4540127|Blepharocheilodontic (BCD) syndrome is a disorder that is present at birth. It mainly affects the eyelids (blepharo-), upper lip (-cheilo-), and teeth (-dontic).\n\nPeople with BCD syndrome have lower eyelids that turn out so that the inner surface is exposed (ectropion). The outside of the lower lid may sag away from the eye (euryblepharon), and the eyelids may not be able to close completely (lagophthalmia). There can be extra eyelashes (distichiasis) on the upper eyelids, ranging from a few extra eyelashes to a full extra set. These eyelashes do not grow along the edge of the eyelid with the normal lashes, but out of its inner lining. When the abnormal eyelashes touch the eyeball, they can cause damage to the clear covering of the eye (cornea). Affected individuals may also have widely spaced eyes (hypertelorism), a flat face, and a high forehead.\n\nOther features of BCD syndrome usually include openings on both sides of the upper lip (bilateral cleft lip) and an opening in the roof of the mouth (cleft palate). Affected individuals may have fewer teeth than normal (oligodontia) and their teeth are often smaller than usual and cone-shaped. The dental abnormalities affect both primary teeth (sometimes called "baby teeth") and secondary (permanent) teeth. Other frequent features include sparse, fine hair and abnormal nails.\n\nOccasionally people with BCD syndrome have additional features, including an obstruction of the anal opening (imperforate anus); malformation or absence of the butterfly-shaped gland in the lower neck called the thyroid, resulting in lack of thyroid gland function; or fused fingers or toes (syndactyly). Very rarely, affected individuals have incompletely formed arms or legs (limb reduction defects) or a spinal cord abnormality known as spina bifida.|MedlinePlus Genetics|N|
C4540131|Pilarowski-Bjornsson syndrome (PILBOS) is an autosomal dominant neurodevelopmental disorder characterized by delayed development, impaired intellectual development, often with autistic features, speech apraxia, and mild dysmorphic features. Some patients may have seizures. The phenotype is somewhat variable (summary by Pilarowski et al., 2018).|OMIM|N|
C4540135|Somatic mutations in the GNAS gene have been found predominantly in GH-secreting pituitary adenomas but also in ACTH-secreting adenomas.
Mutations in the GNAS gene have been found in about 40% of sporadic somatotrophin adenomas (summary by Mete and Lopes, 2017).
For a general description and a discussion of genetic heterogeneity of pituitary adenomas, see PITA1 (102200).|OMIM|N|
C4540156|Al Kaissi syndrome (ALKAS) is an autosomal recessive developmental disorder characterized by growth retardation, spine malformation, particularly of the cervical spine, dysmorphic facial features, and delayed psychomotor development with moderate to severe intellectual disability (summary by Windpassinger et al., 2017).|OMIM|N|
C4540164|Pontocerebellar hypoplasia type 11 (PCH11) is an autosomal recessive neurodevelopmental disorder characterized by severely delayed psychomotor development with impaired intellectual development and poor speech, microcephaly, dysmorphic features, and pontocerebellar hypoplasia on brain imaging. Additional features are more variable (summary by Marin-Valencia et al., 2017).
For a general phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1 (607596).|OMIM|N|
C4540171|3-Methylglutaconic aciduria type IX (MGCA9) is an autosomal recessive disorder characterized by early-onset seizures, severely delayed psychomotor development and intellectual disability. Patients have hypotonia or spasticity, and laboratory investigations show increased serum lactate and 3-methylglutaconic aciduria, suggestive of a mitochondrial defect (summary by Shahrour et al., 2017).
For a phenotypic description and a discussion of genetic heterogeneity of 3-methylglutaconic aciduria, see MGCA type I (250950).|OMIM|N|
C4540179|Spermatogenic failure-22 (SPGF22) is characterized by male infertility due to spermatocyte maturation arrest resulting in cryptozoospermia or azoospermia (Gershoni et al., 2017).
For a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).|OMIM|N|
C4540188|Neurodevelopmental disorder with microcephaly, ataxia, and seizures (NEDMAS) is an autosomal recessive disorder characterized by global developmental delay and early-onset seizures. More variable features may include deafness, cardiomyopathy, and severe febrile decompensations (summary by Ravel et al., 2021).|OMIM|N|
C4540192|NEMMLAS is an autosomal recessive multisystemic disorder characterized by delayed psychomotor development, intellectual disability, and abnormal motor function, including hypotonia, dystonia, ataxia, and spasticity. Patient tissues may show deficiencies in one or more of the mitochondrial oxidative phosphorylation (OXPHOS) enzymes, but this is not a constant finding (summary by Wortmann et al., 2017).|OMIM|N|
C4540199|Developmental and epileptic encephalopathy-91 (DEE91) is characterized by delayed psychomotor development apparent in infancy and resulting in severely to profoundly impaired intellectual development with poor or absent speech. Most patients never achieve independent walking. Patients typically have onset of refractory multifocal seizures between the first weeks and years of life, and some may show developmental regression. Additional features, such as hypotonia and cortical visual impairment, are more variable (summary by Myers et al., 2017).
For a discussion of genetic heterogeneity of DEE, see 308350.|OMIM|N|
C4540205|Oocyte/zygote/embryo maturation arrest-3 (OZEMA3) is characterized by infertility, caused by absence of the zona pellucida that results in degeneration of oocytes and 'empty follicle syndrome' on in vitro fertilization procedures (Chen et al., 2017).
For a discussion of genetic heterogeneity of OZEMA, see 615774.|OMIM|N|
C4540209|COXPD33 is an autosomal recessive multisystem disorder resulting from a defect in mitochondrial energy metabolism. The phenotype is highly variable, ranging from death in infancy to adult-onset progressive external ophthalmoplegia (PEO) and myopathy. A common finding is cardiomyopathy and increased serum lactate (summary by Feichtinger et al., 2017).
For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060).|OMIM|N|
C4540232|Immunodeficiency-71 with inflammatory disease and congenital thrombocytopenia (IMD71) is an autosomal recessive immunologic disorder characterized by the onset of recurrent infections and inflammatory features such as vasculitis and eczema in infancy or early childhood. Infectious agents include bacteria and viruses. Laboratory findings are variable, but usually show thrombocytopenia, sometimes with abnormal platelet morphology, increased serum IgE, IgA, or IgM, leukocytosis, decreased or increased T lymphocytes, and increased eosinophils. Detailed studies show impaired neutrophil and T-cell chemotaxis, as well as impaired T-cell activation due to defects in F-actin (see 102610) polymerization (summary by Brigida et al., 2018).|OMIM|N|
C4540265|HMND9 is an autosomal dominant neurologic disorder characterized by juvenile onset of slowly progressive distal muscle weakness and atrophy affecting both the lower and upper limbs (summary by Tsai et al., 2017).
For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant distal HMN, see HMND1 (182960).|OMIM|N|
C4540266|Galloway-Mowat syndrome is a renal-neurologic disease characterized by early-onset nephrotic syndrome associated with microcephaly, gyral abnormalities of the brain, and delayed psychomotor development. Most patients have dysmorphic facial features, often including hypertelorism, ear abnormalities, and micrognathia. Other features, such as arachnodactyly and visual impairment, are more variable. Most patients die in the first years of life (summary by Braun et al., 2017).
For a general phenotypic description and a discussion of genetic heterogeneity of GAMOS, see GAMOS1 (251300).|OMIM|N|
C4540270|Galloway-Mowat syndrome is a renal-neurologic disease characterized by early-onset nephrotic syndrome associated with microcephaly, gyral abnormalities, and delayed psychomotor development. Most patients have dysmorphic facial features, often including hypertelorism, ear abnormalities, and micrognathia. Other features, such as arachnodactyly and visual impairment, are more variable. Most patients die in the first years of life (summary by Braun et al., 2017).
For a general phenotypic description and a discussion of genetic heterogeneity of GAMOS, see GAMOS1 (251300).|OMIM|N|
C4540274|Galloway-Mowat syndrome is a renal-neurologic disease characterized by early-onset nephrotic syndrome associated with microcephaly, gyral abnormalities, and delayed psychomotor development. Most patients have dysmorphic facial features, often including hypertelorism and ear abnormalities. Other features, such as arachnodactyly and visual or hearing impairment, are more variable. Most patients die in the first years of life (summary by Braun et al., 2017).
For a general phenotypic description and a discussion of genetic heterogeneity of GAMOS, see GAMOS1 (251300).|OMIM|N|
C4540284|Oocyte maturation defects due to mutation in PATL2 show phenotypic variability, with some oocytes exhibiting maturation arrest at the germinal vesicle stage and others at the metaphase I stage. In some patients, a few oocytes progress to polar body I; those oocytes either undergo fertilization failure or, in those that are fertilized, early embryonic arrest (Chen et al., 2017).|OMIM|N|
C4540293|IMDDHH is a multisystem disorder characterized by immunodeficiency, mildly delayed psychomotor development, poor overall growth from infancy, and hypohomocysteinemia. Additional features, such as congenital heart defects and liver involvement, are more variable (summary by Huppke et al., 2017).|OMIM|N|
C4540295|A decreased concentration of homocysteine in the blood.|HPO|N|
C4540299|Sweeney-Cox syndrome (SWCOS) is characterized by striking facial dysostosis, including hypertelorism, deficiencies of the eyelids and facial bones, cleft palate/velopharyngeal insufficiency, and low-set cupped ears (Kim et al., 2017).|OMIM|N|
C4540321|A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay and moderate to severe intellectual disability, as well as variable other manifestations, such as macro- or microcephaly, epilepsy, hypotonia, behavioral problems, stereotypic movements, and facial dysmorphism (including arched eyebrows, long palpebral fissures, prominent nasal bridge, upturned nose, dysplastic ears, and broad mouth), among others. Brain imaging may show cerebellar anomalies, hypoplastic corpus callosum, enlarged ventricles, polymicrogyria, or white matter abnormalities.|ORDO|N|
C4540327|NEDDFL is a neurodevelopmental disorder characterized by delayed psychomotor development and impaired intellectual development, poor growth with small head size, dysmorphic facial features, and mild abnormalities of the hands and feet (summary by Stankiewicz et al., 2017).|OMIM|N|
C4540331|Erythrokeratodermia variabilis et progressiva-5 (EKVP5) is an autosomal recessive skin disorder characterized by progressive development of symmetrically distributed hyperkeratotic plaques with palmoplantar hyperkeratosis and nail thickening (Shah et al., 2017).|OMIM|N|
C4540342|Joubert syndrome-32 (JBTS32) is an autosomal recessive developmental disorder characterized by delayed psychomotor development, intellectual disability, dysmorphic facial features, and postaxial polydactyly. Brain imaging shows cerebellar abnormalities consistent with the molar tooth sign (MTS) (summary by De Mori et al., 2017).
For discussion of genetic heterogeneity of Joubert syndrome, see JBTS1 (213300).|OMIM|N|
C4540345|Centronuclear myopathy-6 with fiber-type disproportion (CNM6) is an autosomal recessive, slowly progressive congenital myopathy with onset in infancy or early childhood. Patients may be hypotonic at birth, but all show delayed motor development and walking difficulties due to muscle weakness mainly affecting the proximal lower and upper limbs. Other features include scapular winging, scoliosis, and mildly decreased respiratory vital capacity. The phenotype and muscle biopsy abnormalities are variable, although centralized nuclei and fiber-type disproportion appear to be a common finding on muscle biopsy (summary by Vasli et al., 2017).
For a discussion of genetic heterogeneity of centronuclear myopathy, see CNM1 (160150).|OMIM|N|
C4540355|Classic Joubert syndrome (JS) is characterized by three primary findings: A distinctive cerebellar and brain stem malformation called the molar tooth sign (MTS). Hypotonia. Developmental delays. Often these findings are accompanied by episodic tachypnea or apnea and/or atypical eye movements. In general, the breathing abnormalities improve with age, truncal ataxia develops over time, and acquisition of gross motor milestones is delayed. Cognitive abilities are variable, ranging from severe intellectual disability to normal. Additional findings can include retinal dystrophy, renal disease, ocular colobomas, occipital encephalocele, hepatic fibrosis, polydactyly, oral hamartomas, and endocrine abnormalities. Both intra- and interfamilial variation are seen.|GeneReviews|N|
C4540358|A rare genetic disorder with characteristics of infantile onset of stagnation and regression of motor and language development resulting in complete lack of communication and purposeful movement. Further neurological manifestations include truncal hypotonia, appendicular spasticity, dystonia, optic disc pallor, peripheral neuropathy and neurogenic bladder. Patients also present multiple contractures, late-onset relative macrocephaly, short stature and facial dysmorphism (including coarse facial features, sloping forehead, thick eyebrows, low-set ears, prominent nose, flat philtrum, and prominent lower lip). Brain imaging at advanced stages shows diffuse abnormal white matter signal and severe atrophy. Sural nerve biopsy reveals decreased myelination.|SNOMEDCT_US|N|
C4540367|SHRF is an autosomal recessive disorder characterized by short stature, brachydactyly, dysmorphic facial features, hearing loss, and visual impairment. Onset of the hearing and visual abnormalities, including retinitis pigmentosa, varies from birth to the second decade. Patients have mild intellectual disability and mild cerebellar atrophy with myelination defects on brain imaging (summary by Di Donato et al., 2016).|OMIM|N|
C4540389|Joubert syndrome (JBTS) represents a classic ciliopathy characterized by hypotonia, ataxia, cognitive impairment, and a distinctive brain malformation, the 'molar tooth sign.' In addition, retinal dystrophy, cystic kidney disease, liver fibrosis, and polydactyly occur in a subset of patients (summary by Wheway et al., 2015).
For a discussion of genetic heterogeneity of Joubert syndrome, see JBTS1 (213300).|OMIM|N|
C4540395|Kleefstra syndrome-2 (KLEFS2) is an autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development, variable intellectual disability, and mild dysmorphic features (summary by Koemans et al., 2017).
For a discussion of genetic heterogeneity of Kleefstra syndrome, see KLEFS1 (610253).|OMIM|N|
C4540400|A rare autosomal dominant cerebellar ataxia with characteristics of slowly progressive late-onset gait and limb ataxia, dysarthria and variable nystagmus. Brain imaging reveals cerebellar atrophy.|SNOMEDCT_US|N|
C4540404|A rare autosomal dominant cerebellar ataxia with characteristics of slowly progressive late-onset cerebellar ataxia variably combined with sensory axonal neuropathy. Patients may present gait and limb ataxia, dysarthria, abnormal oculomotor function and distal sensory impairment. Cerebellar atrophy is typically mild or absent.|SNOMEDCT_US|N|
C4540411|Developmental and epileptic encephalopathy-57 (DEE57) is a neurologic disorder characterized by global developmental delay with hypotonia, variably impaired intellectual development, and poor or absent language. Affected individuals have onset of refractory multifocal seizures in the first days or months of life, and may show developmental regression. EEG patterns include hypsarrhythmia, suggesting a clinical diagnosis of West syndrome, background slowing, and epilepsy of infancy with migrating focal seizures (EIMFS). Some patients may have mild dysmorphic features (summary by Ambrosino et al., 2018 and Mao et al., 2020).
For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350.|OMIM|N|
C4540424|MRT61 is an autosomal recessive neurodevelopmental disorder characterized by delayed psychomotor development, moderate to severe intellectual disability, and variable dysmorphic facial features. More severely affected patients may develop refractory seizures and have brain abnormalities, including hypoplasia of the corpus callosum (summary by Alwadei et al., 2016).|OMIM|N|
C4540434|Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia is an inborn error of folate metabolism due to deficiency of methylenetetrahydrofolate dehydrogenase-1. Manifestations may include hemolytic uremic syndrome, macrocytosis, epilepsy, hearing loss, retinopathy, mild mental retardation, lymphopenia involving all subsets, and low T-cell receptor excision circles. Folinic acid supplementation is an effective treatment (summary by Ramakrishnan et al., 2016).|OMIM|N|
C4540467|The presence of micro-megakaryocytes, hypo-lobed, or non-lobed nuclei in megakaryocytes of all sizes and multiple, widely-separated nuclei.|HPO|N|
C4540470|Autosomal dominant intellectual developmental disorder-50 with behavioral abnormalities (MRD50) is characterized by variable levels of impaired intellectual development, delayed speech and motor milestones, and behavioral abnormalities, most commonly autism spectrum disorder (ASD). Some patients may also have mild craniofacial dysmorphism, congenital cardiac anomalies, or seizures (summary by Cheng et al., 2019).|OMIM|N|
C4540488|Autosomal recessive primary microcephaly-19 (MCPH19) is a rare congenital brain defect resulting in a reduction of occipitofrontal head circumference by at least 3 standard deviations, severe developmental delay, failure to thrive, cortical blindness, and spasticity (DiStasio et al., 2017).
For a general phenotypic description and a discussion of genetic heterogeneity of primary microcephaly, see MCPH1 (251200).|OMIM|N|
C4540493|Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy (NDMSCA) is an autosomal recessive disorder characterized by severe global developmental delay with poor motor and intellectual function apparent soon after birth, as well as postnatal progressive microcephaly. Most patients develop early-onset, frequent, and often intractable seizures, compatible with an epileptic encephalopathy. Other features include poor feeding, poor overall growth, absent speech, poor or absent eye contact, inability to achieve walking, hypotonia, and peripheral spasticity. Brain imaging usually shows progressive cerebral atrophy, thin corpus callosum, and abnormalities in myelination. Death in childhood may occur (summary by Siekierska et al., 2019).|OMIM|N|
C4540496|NEDMIAL is a neurodevelopmental disorder characterized by delayed psychomotor development and hypotonia apparent from early infancy, resulting in feeding difficulties, ataxic gait or inability to walk, delayed or absent speech development, and impaired intellectual development, sometimes with behavioral abnormalities, such as hand-flapping. Additional common features may include sleep disorder, nonspecific dysmorphic facial features, and joint hyperlaxity (summary by Lessel et al., 2017 and Mannucci et al., 2021).|OMIM|N|
C4540497|RHDA3 is an autosomal dominant disorder characterized by abnormal kidney development beginning in utero. The phenotype is highly variable, even within families, and there is evidence for incomplete penetrance. Some affected individuals have bilateral renal agenesis, which is usually fatal in utero or in the perinatal period, whereas others may have unilateral agenesis that is compatible with life, or milder manifestations, such as vesicoureteral reflux (VUR). Female mutation carriers may also have uterine or ovarian abnormalities, including uterovaginal and ovarian agenesis. Renal aplasia falls at the most severe end of the spectrum of congenital anomalies of the kidney and urinary tract (CAKUT; see 610805) (summary by Brophy et al., 2017, Sanna-Cherchi et al., 2017, and Herlin et al., 2019).
For a discussion of genetic heterogeneity of renal hypodysplasia/aplasia, see RHDA1 (191830).|OMIM|N|
C4540498|NDAGSCW is a neurodevelopmental disorder characterized by severely delayed psychomotor development apparent from infancy. Affected individuals have delayed and difficulty walking, intellectual disability, absent speech, and variable additional features, including hip dysplasia, tapering fingers, and seizures. Brain imaging shows decreased cortical white matter, often with decreased cerebellar white matter, thin corpus callosum, and thin brainstem (summary by Lamers et al., 2017).|OMIM|N|
C4540499|Coffin-Siris syndrome (CSS) is classically characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth and additional digits, developmental or cognitive delay of varying degree, distinctive facial features, hypotonia, hirsutism/hypertrichosis, and sparse scalp hair. Congenital anomalies can include malformations of the cardiac, gastrointestinal, genitourinary, and/or central nervous systems. Other findings commonly include feeding difficulties, slow growth, ophthalmologic abnormalities, and hearing impairment.|GeneReviews|N|
C4540511|Geleophysic dysplasia, a progressive condition resembling a lysosomal storage disorder, is characterized by short stature, short hands and feet, progressive joint limitation and contractures, distinctive facial features, progressive cardiac valvular disease, and thickened skin. Intellect is normal. Major findings are likely to be present in the first year of life. Cardiac, respiratory, and lung involvement result in death before age five years in approximately 33% of individuals with ADAMTSL2-related geleophysic dysplasia.|GeneReviews|N|
C4540520|GPIBD15 is an autosomal recessive disorder characterized by delayed psychomotor development, variable intellectual disability, hypotonia, early-onset seizures in most patients, and cerebellar atrophy, resulting in cerebellar signs including gait ataxia and dysarthria. The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis (summary by Nguyen et al., 2017).
For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (610293).|OMIM|N|
C4540522|Familial glucocorticoid deficiency-5 (GCCD5) is characterized by resistance to adrenocorticotropic hormone (ACTH) and isolated glucocorticoid deficiency, with typical biochemical findings of low serum cortisol levels and high plasma ACTH. Patients commonly present with hyperpigmentation (Prasad et al., 2014).
For a discussion of genetic heterogeneity of familial glucocorticoid deficiency, see GCCD1 (202200).|OMIM|N|
C4540559|Sphingosine phosphate lyase insufficiency syndrome (SPLIS) is characterized by varying combinations of steroid-resistant nephrotic syndrome (ranging from nonimmune fetal hydrops to adolescent onset), primary adrenal insufficiency (with or without mineralocorticoid deficiency), testicular insufficiency, hypothyroidism, ichthyosis, lymphopenia/immunodeficiency, and neurologic abnormalities that can include developmental delay, regression / progressive neurologic involvement, cranial nerve deficits, and peripheral motor and sensory neuropathy.|GeneReviews|N|
C4540575|Autosomal recessive polycystic kidney disease (ARPKD) belongs to a group of congenital hepatorenal fibrocystic syndromes and is a cause of significant renal and liver-related morbidity and mortality in children. The majority of individuals with ARPKD present in the neonatal period with enlarged echogenic kidneys. Renal disease is characterized by nephromegaly, hypertension, and varying degrees of renal dysfunction. More than 50% of affected individuals with ARPKD progress to end-stage renal disease (ESRD) within the first decade of life; ESRD may require kidney transplantation. Pulmonary hypoplasia resulting from oligohydramnios occurs in a number of affected infants. Approximately 30% of these infants die in the neonatal period or within the first year of life from respiratory insufficiency or superimposed pulmonary infections. With neonatal respiratory support and renal replacement therapies, the long-term survival of these infants has improved to greater than 80%. As advances in renal replacement therapy and kidney transplantation improve long-term survival, it is likely that clinical hepatobiliary disease will become a major feature of the natural history of ARPKD. In addition, a subset of individuals with this disorder are identified with hepatosplenomegaly; the renal disease is often mild and may be discovered incidentally during imaging studies of the abdomen. Approximately 50% of infants will have clinical evidence of liver involvement at diagnosis although histologic hepatic fibrosis is invariably present at birth. This can lead to progressive portal hypertension with resulting esophageal or gastric varices, enlarged hemorrhoids, splenomegaly, hypersplenism, protein-losing enteropathy, and gastrointestinal bleeding. Other hepatic findings include nonobstructed dilatation of the intrahepatic bile ducts (Caroli syndrome) and dilatation of the common bile duct, which may lead to recurrent or persistent bacterial ascending cholangitis due to dilated bile ducts and stagnant bile flow. An increasing number of affected individuals surviving the neonatal period will eventually require portosystemic shunting or liver transplantation for complications of portal hypertension or cholangitis. The classic neonatal presentation of ARPKD notwithstanding, there is significant variability in age and presenting clinical symptoms related to the relative degree of renal and biliary abnormalities.|GeneReviews|N|
C4540869|The process by which the results of the labor of one social group is transferred as the benefit of another group.|MSH|N|
C4542971|Rescue medication is a generic term used to describe medicines for the treatment of acute episodes of types of chronic disease such as epilepsy.|SNOMEDCT_US|N|
C4543454|The number of times a short-acting reliever inhaler is used to treat asthma symptoms to reduce the risk of asthma attack during the period of one week.|SNOMEDCT_US|N|
C4543455|The number of prescriptions for a short-acting reliever inhaler to treat asthma symptoms issued during the period of one year.|SNOMEDCT_US|N|
C4543526|A finding indicating that an individual has been exposed to arsenic.|NCI|N|
C4543545|Current non-smoker with cessation of smoking less than one year.|SNOMEDCT_US|N|
C4543546|Mucosal lesion of the alveolar recess of the buccal mucosa caused by ill-fitting prostheses, such as dentures, that caused some form of constant mechanical trauma to the mucosal site.|SNOMEDCT_US|N|
C4543627|Damage due to habitual action involving the oral cavity.|SNOMEDCT_US|N|
C4543704|Replacement resorption is resorption of the tooth root surface and its substitution by bone resulting in ankylosis.|SNOMEDCT_US|N|
C4543706|A temporary situation during which the apex of the tooth root demonstrates the radiographic appearance of resorption following trauma. The finding generally returns to normal following repair within a period of one year.|SNOMEDCT_US|N|
C4543707|A type of resorption which is self-limiting and usually occurs following trauma. The disorder manifests as small superficial lacunae in the cementum and may extend in the outermost layer of dentin.|SNOMEDCT_US|N|
C4543708|Disorder which may arise as a sequela of traumatic injury, orthodontic tooth movement, or chronic infection of the pulp or periodontal structures.|SNOMEDCT_US|N|
C4543807|Malaria without parasitological confirmation.|SNOMEDCT_US|N|
C4543926|A rare neurologic disease characterized by excessive daytime sleepiness associated with uncontrollable sleep urges and cataplexy (sudden loss of muscle tone while awake, often triggered by pleasant emotions).|ORPHANET|N|
C4544037|Malignant hyperthermia that is characterized by exercise-induced life-threatening hyperthermia with a body temperature over 40 degrees C and signs of encephalopathy ranging from confusion to convulsions or coma. Incidence increases with rising ambient temperature and relative humidity. Manifestations may include rhabdomyolysis (presenting with myalgia, muscle weakness, and myoglobinuria), tachycardia, and in severe cases multiorgan failure.|HPO|N|
C4544097|Indicates whether a healthcare professional has clinical status and rights at healthcare institutions and organisations.|SNOMEDCT_US|N|
C4544271|A disturbance of executive functioning, which is broadly defined as the set of abilities that allow for the planning, executing, monitoring, and self-correcting of goal-directed behavior while inhibiting task-irrelevant behavior. At least some degree of executive skill is needed to complete most cognitive tasks, and deficits in executive abilities are central to many clinical conditions, including fronto-temporal dementia.|HPO|N|
C4544347|Position of tongue in mouth.|SNOMEDCT_US|N|
C4544483|A regular habit of biting on an object such as a pencil or pen.|SNOMEDCT_US|N|
C4544584|Linear measurement of the distance or width between molar teeth.|SNOMEDCT_US|N|
C4544602|Linear measurement of the distance or width between cuspid teeth.|SNOMEDCT_US|N|
C4544622|Modified diet is an alteration to the consistency of foods and liquids for the management of dysphagia.|SNOMEDCT_US|N|
C4544804|An increased amount of tooth display when smiling compared to rest position.|SNOMEDCT_US|N|
C4544979|An inflammatory bowel disease characterized by inflammation located in stomach and located in duodenum, has symptom nausea, has symptom vomiting, has symptom weight loss and has symptom loss of appetite.|MONDO|N|
C4545024|A hemangioma that arises from the conjunctiva.|NCI|N|
C4545048|Jejunal neuroendocrine tumor is a rare, primary, malignant, epithelial neoplasm of the small intestine arising from enterochromaffin cells in the jejunum. Clinical behavior depends on the histologic grade, but initially it is generally characterized by vague abdominal symptoms (cramping, bloating, diarrhea) with insidious onset, although sometimes it could present with signs of bowel obstruction/perforation or gastrointestinal bleeding. Diagnosis in advanced stages with regional or distant spread is common, but signs of carcinoid syndrome (flushing, sweating, diarrhea) are usually not apparent until hepatic metastasis has occurred.|ORPHANET|N|
C4545229|A rare otorhinolaryngologic disease with characteristics of dysfunction of both peripheral labyrinths or of the eighth nerves, which presents with persistent unsteadiness of gait (particularly in darkness, during eye closure or under impaired visual conditions, or when standing/walking on uneven, soft or wobbly ground) and oscillopsia associated with head movements. The disease may be progressive, presenting no episodes of vertigo, or sequential, presenting recurrent episodes of vertigo.|SNOMEDCT_US|N|
C4545230|A rare non-syndromic limb malformation with characteristics of fusion of the proximal or distal tibial and fibular metaphysis and/or diaphysis. The disease is frequently associated with distal positioning of the proximal tibiofibular joint, leg length discrepancy, bowing of the fibula and valgus deformity of the knee.|SNOMEDCT_US|N|
C4545231|A rare parkinsonian disorder with characteristics of unilateral body atrophy and slowly progressive, ipsilateral hemiparkinsonian signs (bradykinesia, rigidity, and tremor). Patients typically present with unilateral, action-induced dystonia, in upper or lower limbs, that progresses and becomes bilateral or with tremor which occurs predominantly at rest and progresses to hemiparkinsonism. Scoliosis, scapular winging, raised shoulders, brisk reflexes and extensor plantars are frequently associated.|SNOMEDCT_US|N|
C4545381|A rare malignant neoplastic disease characterized by clonal proliferation of myeloid and/or lymphoid precursors harboring rearrangements in the PDGFRA gene, in the blood, bone marrow and often other tissues as well (spleen, lymph nodes, skin). It usually presents as chronic eosinophilic leukemia or, less commonly, as acute myeloid leukemia or T-lymphoblastic leukemia with eosinophilia. Patients usually present with eosinophilia, anemia, thrombocytopenia, neutrophilia, splenomegaly, lymphadenopathy, fever, sweating and/or weight loss. Tissue infiltration by eosinophils can manifest with skin rash, erythema, cough, neurological alterations, gastrointestinal symptoms or, rarely, endomyocardial fibrosis and restrictive cardiomyopathy.|SNOMEDCT_US|N|
C4545738|A general position for a supernumerary tooth located somewhere other than the midline of the dental arch.|SNOMEDCT_US|N|
C4545791|Changes in gene function that are mitotically and/or meiotically heritable and that do not entail a change in DNA sequence.|SNOMEDCT_US|N|
C4545856|No transformation of the product takes place.|NCI|N|
C4545992|A rare brain inflammatory disease with characteristics of thickening of the dura mater of the cranium or spine with at least two histopathological features of IgG4 (immunoglobulin G4) related disease: dense lymphoplasmacytic infiltrate, storiform fibrosis, and/or obliterative phlebitis. Patients typically have non-specific cerebrospinal fluid findings, and might be without systemic involvement or serum IgG4 elevation. Clinical manifestations are caused by mechanical compression of nerve or vascular structure, leading to functional deficit, most commonly headache, cranial nerve palsies, vision problems and motor weakness.|SNOMEDCT_US|N|
C4546023|A congenital birth syndrome that arises from materal Zika infection.|MONDO|N|
C4546437|A rare skin disease characterized initially by erythematous patches with superficial necrosis, at later stages by hyperkeratotic plaques with a rim of dusky erythema, of exclusively acral distribution with a predilection for the lower extremities, and universal association with hepatitis C virus infection. Patients typically experience pruritus or pain. Serum zinc levels may or may not be decreased, although oral zinc supplementation often improves the condition.|ORPHANET|N|
C4551260|Scheduled for work days/times that change periodically but does not include night or evening work.|SNOMEDCT_US|N|
C4551261|Scheduled for work times that change periodically between days, and/or evenings, and includes some night shifts.|SNOMEDCT_US|N|
C4551441|A disorder characterized by an infectious process involving the endometrium. It may extend to the myometrium and parametrial tissues.|NCI|N|
C4551442|A small break in the retina.|HPO|N|
C4551463|An adenoma that arises from the colon. The group of colonic adenomas includes tubular, villous, and tubulovillous adenomas, traditional serrated adenomas, sessile serrated adenomas/polyps, and familial adenomatous polyposis.|NCI|N|
C4551464|Absence (due to failure to form) or underdevelopment of the extremities.|HPO|N|
C4551473|A disorder of large arteries, in particular the aorta, characterized by an accumulation of basophilic ground substance in the media with cyst-like lesions associated with degenerative changes of collagen, elastin and the vascular smooth muscle cells.|HPO|N|
C4551474|Seckel syndrome is a rare autosomal recessive disorder characterized by intrauterine growth retardation, dwarfism, microcephaly with mental retardation, and a characteristic 'bird-headed' facial appearance (Shanske et al., 1997).
Genetic Heterogeneity of Seckel Syndrome
Other forms of Seckel syndrome include SCKL2 (606744), caused by mutation in the RBBP8 gene (604124) on chromosome 18q11; SCKL4 (613676), caused by mutation in the CENPJ gene (609279) on chromosome 13q12; SCKL5 (613823), caused by mutation in the CEP152 gene (613529) on chromosome 15q21; SCKL6 (614728), caused by mutation in the CEP63 gene (614724) on chromosome 3q22; SCKL7 (614851), caused by mutation in the NIN gene (608684) on chromosome 14q22; SCKL8 (615807), caused by mutation in the DNA2 gene (601810) on chromosome 10q21; SCKL9 (616777), caused by mutation in the TRAIP gene (605958) on chromosome 3p21; SCKL10 (617253), caused by mutation in the NSMCE2 gene (617246) on chromosome 8q24; and SCKL11 (620767), caused by mutation in the CEP295 gene (617728) on chromosome 11q21.
The report of a Seckel syndrome locus on chromosome 14q, designated SCKL3, by Kilinc et al. (2003) was found to be in error; see History section.|OMIM|N|
C4551475|Autosomal dominant Robinow syndrome (ADRS) is characterized by skeletal findings (short stature, mesomelic limb shortening predominantly of the upper limbs, and brachydactyly), genital abnormalities (in males: micropenis / webbed penis, hypoplastic scrotum, cryptorchidism; in females: hypoplastic clitoris and labia majora), dysmorphic facial features (widely spaced and prominent eyes, frontal bossing, anteverted nares, midface retrusion), dental abnormalities (including malocclusion, crowding, hypodontia, late eruption of permanent teeth), bilobed tongue, and occasional prenatal macrocephaly that persists postnatally. Less common findings include renal anomalies, radial head dislocation, vertebral abnormalities such as hemivertebrae and scoliosis, nail dysplasia, cardiac defects, cleft lip/palate, and (rarely) cognitive delay. When present, cardiac defects are a major cause of morbidity and mortality. A variant of Robinow syndrome, associated with osteosclerosis and caused by a heterozygous pathogenic variant in DVL1, is characterized by normal stature, persistent macrocephaly, increased bone mineral density with skull osteosclerosis, and hearing loss, in addition to the typical features described above.|GeneReviews|N|
C4551478|Any Neu-Laxova syndrome in which the cause of the disease is a mutation in the PHGDH gene.|MONDO|N|
C4551479|Schwartz-Jampel syndrome type 1 (SJS1) is a rare autosomal recessive disorder characterized by muscle stiffness (myotonia) and chondrodysplasia. Affected individuals usually present in childhood with permanent muscle stiffness or bone deformities. Common clinical features include mask-like facies (narrow palpebral fissures, blepharospasm, and pursed lips); permanent muscle stiffness with continuous skeletal muscle activity recorded on electromyography; dwarfism; pectus carinatum; kyphoscoliosis; bowing of long bones; and epiphyseal, metaphyseal, and hip dysplasia. The disorder is slowly progressive but does not appear to alter life span (summary by Stum et al., 2006).|OMIM|N|
C4551480|Fraser syndrome is an autosomal recessive malformation disorder characterized by cryptophthalmos, syndactyly, and abnormalities of the respiratory and urogenital tract (summary by van Haelst et al., 2008).
Genetic Heterogeneity of Fraser Syndrome
Fraser syndrome-2 (FRASRS2) is caused by mutation in the FREM2 gene (608945) on chromosome 13q13, and Fraser syndrome-3 (FRASRS3; 617667) is caused by mutation in the GRIP1 gene (604597) on chromosome 12q14.
See Bowen syndrome (211200) for a comparable but probably distinct syndrome of multiple congenital malformations.|OMIM|N|
C4551481|Townes-Brocks syndrome (TBS) is characterized by the triad of imperforate anus (84%), dysplastic ears (87%; overfolded superior helices and preauricular tags; frequently associated with sensorineural and/or conductive hearing impairment [65%]), and thumb malformations (89%; triphalangeal thumbs, duplication of the thumb [preaxial polydactyly], and rarely hypoplasia of the thumbs). Renal impairment (42%), including end-stage renal disease (ESRD), may occur with or without structural abnormalities (mild malrotation, ectopia, horseshoe kidney, renal hypoplasia, polycystic kidneys, vesicoutereral reflux). Congenital heart disease occurs in 25%. Foot malformations (52%; flat feet, overlapping toes) and genitourinary malformations (36%) are common. Intellectual disability occurs in approximately 10% of individuals. Rare features include iris coloboma, Duane anomaly, Arnold-Chiari malformation type 1, and growth retardation.|GeneReviews|N|
C4551482|Adams-Oliver syndrome (AOS) is characterized by aplasia cutis congenita (ACC) of the scalp and terminal transverse limb defects (TTLD). ACC lesions usually occur in the midline of the parietal or occipital regions, but can also occur on the abdomen or limbs. At birth, an ACC lesion may already have the appearance of a healed scar. ACC lesions less than 5 cm often involve only the skin and almost always heal over a period of months; larger lesions are more likely to involve the skull and possibly the dura, and are at greater risk for complications, which can include infection, hemorrhage, or thrombosis, and can result in death. The limb defects range from mild (unilateral or bilateral short distal phalanges) to severe (complete absence of all toes or fingers, feet or hands, or more, often resembling an amputation). The lower extremities are almost always more severely affected than the upper extremities. Additional major features frequently include cardiovascular malformations/dysfunction (23%), brain anomalies, and less frequently renal, liver, and eye anomalies.|GeneReviews|N|
C4551483|SOST-related sclerosing bone dysplasias include sclerosteosis and van Buchem disease, both disorders of progressive bone overgrowth due to increased bone formation. The major clinical features of sclerosteosis are progressive skeletal overgrowth, most pronounced in the skull and mandible, and variable syndactyly, usually of the second (index) and third (middle) fingers. Affected individuals appear normal at birth except for syndactyly. Facial distortion due to bossing of the forehead and mandibular overgrowth is seen in nearly all individuals and becomes apparent in early childhood with progression into adulthood. Hyperostosis of the skull results in narrowing of the foramina, causing entrapment of the seventh cranial nerve (leading to facial palsy) with other, less common nerve entrapment syndromes including visual loss (2nd cranial nerve), neuralgia or anosmia (5th cranial nerve), and sensory hearing loss (8th cranial nerve). In sclerosteosis, hyperostosis of the calvarium reduces intracranial volume, increasing the risk for potentially lethal elevation of intracranial pressure. Survival of individuals with sclerosteosis into old age is unusual, but not unprecedented. The manifestations of van Buchem disease are generally milder than sclerosteosis and syndactyly is absent; life span appears to be normal.|GeneReviews|N|
C4551484|Noonan syndrome with multiple lentigines (NSML) is a condition in which the cardinal features consist of lentigines, hypertrophic cardiomyopathy, short stature, pectus deformity, and dysmorphic facial features including widely spaced eyes and ptosis. Multiple lentigines present as dispersed flat, black-brown macules, mostly on the face, neck, and upper part of the trunk with sparing of the mucosa. In general, lentigines do not appear until age four to five years but then increase to the thousands by puberty. Some individuals with NSML do not exhibit lentigines. Approximately 85% of affected individuals have heart defects, including hypertrophic cardiomyopathy (typically appearing during infancy and sometimes progressive) and pulmonary valve stenosis. Postnatal growth restriction resulting in short stature occurs in fewer than 50% of affected persons, although most affected individuals have a height that is less than the 25th centile for age. Sensorineural hearing deficits, present in approximately 20% of affected individuals, are poorly characterized. Intellectual disability, typically mild, is observed in approximately 30% of persons with NSML.|GeneReviews|N|
C4551485|An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe).|HPO|N|
C4551486|Erythrokeratodermia variabilis et progressiva (EKVP) is a skin disorder that is present at birth or becomes apparent in infancy. Although its signs and symptoms vary, the condition is characterized by two major features. The first is hyperkeratosis, which is rough, thickened skin. These patches are usually reddish-brown and can either affect many parts of the body or occur in only a small area. They tend to be fixed, meaning they rarely spread or go away. However, the patches can vary in size and shape, and in some affected people they get larger over time. The areas of hyperkeratosis are generally symmetric, which means they occur in the same places on the right and left sides of the body.\n\nThe second major feature of EKVP is patches of reddened skin called erythematous areas. Unlike the hyperkeratosis that occurs in this disorder, the erythematous areas are usually transient, which means they come and go. They vary in size, shape, and location, and can occur anywhere on the body. The redness is more common in childhood and can be triggered by sudden changes in temperature, emotional stress, or trauma or irritation to the area. It usually fades within hours to days.|MedlinePlus Genetics|N|
C4551487|A cleft of the muscular portion of the palate that is covered by mucous membrane.|HPO|N|
C4551488|Uvula separated into two parts most easily seen at the tip.|HPO|N|
C4551489|A complete duplication of the ureter, where the duplicated ureters have separate insertions into the bladder.|HPO|N|
C4551490|A gonad that contains both ovarian follicles and testicular tubular elements.|HPO|N|
C4551491|Lack of recognizable penile structures.|HPO|N|
C4551492|Abnormally small penis. At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm.|HPO|N|
C4551493|A left-right reversal (or "mirror reflection") of the anatomical location of the major thoracic and abdominal organs.|HPO|N|
C4551495|Hereditary hypophosphatemic rickets is a disorder related to low levels of phosphate in the blood (hypophosphatemia). Phosphate is a mineral that is essential for the normal formation of bones and teeth.\n\nIn most cases, the signs and symptoms of hereditary hypophosphatemic rickets begin in early childhood. The features of the disorder vary widely, even among affected members of the same family. Mildly affected individuals may have hypophosphatemia without other signs and symptoms. More severely affected children experience slow growth and are shorter than their peers. They develop bone abnormalities that can interfere with movement and cause bone pain. The most noticeable of these abnormalities are bowed legs or knock knees. These abnormalities become apparent with weight-bearing activities such as walking. If untreated, they tend to worsen with time.\n\nOther signs and symptoms of hereditary hypophosphatemic rickets can include premature fusion of the skull bones (craniosynostosis) and dental abnormalities. The disorder may also cause abnormal bone growth where ligaments and tendons attach to joints (enthesopathy). In adults, hypophosphatemia is characterized by a softening of the bones known as osteomalacia.\n\nAnother rare type of the disorder is known as hereditary hypophosphatemic rickets with hypercalciuria (HHRH). In addition to hypophosphatemia, this condition is characterized by the excretion of high levels of calcium in the urine (hypercalciuria).\n\nResearchers have described several forms of hereditary hypophosphatemic rickets, which are distinguished by their pattern of inheritance and genetic cause. The most common form of the disorder is known as X-linked hypophosphatemic rickets (XLH). It has an X-linked dominant pattern of inheritance. X-linked recessive, autosomal dominant, and autosomal recessive forms of the disorder are much rarer.|MedlinePlus Genetics|N|
C4551496|Autosomal dominant tubulointerstitial kidney disease – UMOD (ADTKD-UMOD) is characterized by normal urinalysis and slowly progressive chronic kidney disease (CKD), usually first noted in the teen years and progressing to end-stage renal disease (ESRD) between the third and seventh decades. Hyperuricemia is often present from an early age, and gout (resulting from reduced kidney excretion of uric acid) occurs in the teenage years in about 8% of affected individuals and develops in 55% of affected individuals over time.|GeneReviews|N|
C4551497|The Ehlers-Danlos syndromes (EDS) are a group of heritable connective tissue disorders that share the common features of skin hyperextensibility, articular hypermobility, and tissue fragility. The major characteristics of kyphoscoliotic-type EDS are severe muscle hypotonia at birth, generalized joint laxity, scoliosis at birth, and scleral fragility and rupture of the ocular globe (Beighton et al., 1998).
Nevo syndrome, previously thought to be a distinct entity, is identical to EDS type VI (Voermans et al., 2009).
Genetic Heterogeneity of Ehlers-Danlos Syndrome, Kyphoscoliotic Type
See EDSSKCL2 (614557), caused by mutation in the FKBP14 gene (614505).
Classification of Ehlers-Danlos Syndromes
The current classification of Ehlers-Danlos syndromes is based on a 2017 international classification described by Malfait et al. (2017), which recognizes 13 EDS subtypes. This classification revised the 'Villefranche classification' reported by Beighton et al. (1998).
Beighton et al. (1998) reported on a revised nosology of the Ehlers-Danlos syndromes, designated the Villefranche classification. Major and minor diagnostic criteria were defined for each type and complemented whenever possible with laboratory findings. Six main descriptive types were substituted for earlier types numbered with Roman numerals: classic type (EDS I and II), hypermobility type (EDS III), vascular type (EDS IV), kyphoscoliosis type (EDS VI), arthrochalasia type (EDS VIIA and VIIB), and dermatosparaxis type (EDS VIIC). Six other forms were listed, including a category of 'unspecified forms.'|OMIM|N|
C4551499|Periodontal Ehlers-Danlos syndrome (pEDS) is characterized by distinct oral manifestations. Periodontal tissue breakdown beginning in the teens results in premature loss of teeth. Lack of attached gingiva and thin and fragile gums lead to gingival recession. Connective tissue abnormalities of pEDS typically include easy bruising, pretibial plaques, distal joint hypermobility, hoarse voice, and less commonly manifestations such as organ or vessel rupture. Since the first descriptions of pEDS in the 1970s, 148 individuals have been reported in the literature; however, future in-depth descriptions of non-oral manifestations in newly diagnosed individuals with a molecularly confirmed diagnosis of pEDS will be important to further define the clinical features.|GeneReviews|N|
C4551501|In all forms of PLCA, the abnormal patches of skin usually arise in mid-adulthood. They can remain for months to years and may recur after disappearing, either at the same location or elsewhere. Very rarely, nodular amyloidosis progresses to a life-threatening condition called systemic amyloidosis, in which amyloid deposits accumulate in tissues and organs throughout the body.\n\nIn some affected individuals, the patches have characteristics of both lichen and macular amyloidosis. These cases are called biphasic amyloidosis.\n\nNodular amyloidosis is characterized by firm, raised bumps (nodules) that are pink, red, or brown. These nodules often occur on the face, torso, limbs, or genitals and are typically not itchy.\n\nIn macular amyloidosis, the patches are flat and dark brown. The coloring can have a lacy (reticulated) or rippled appearance, although it is often uniform. Macular amyloidosis patches are most commonly found on the upper back, but they can also occur on other parts of the torso or on the limbs. These patches are mildly itchy.\n\nLichen amyloidosis is characterized by severely itchy patches of thickened skin with multiple small bumps. The patches are scaly and reddish brown in color. These patches usually occur on the shins but can also occur on the forearms, other parts of the legs, and elsewhere on the body.\n\nPrimary localized cutaneous amyloidosis (PLCA) is a condition in which clumps of abnormal proteins called amyloids build up in the skin, specifically in the wave-like projections (dermal papillae) between the top two layers of skin (the dermis and the epidermis). The primary feature of PLCA is patches of skin with abnormal texture or color. The appearance of these patches defines three forms of the condition: lichen amyloidosis, macular amyloidosis, and nodular amyloidosis.|MedlinePlus Genetics|N|
C4551502|Hyperphosphatasia with impaired intellectual development syndrome-1 (HPMRS1) is an autosomal recessive disorder characterized by impaired intellectual development, various neurologic abnormalities such as seizures and hypotonia, and hyperphosphatasia. Other features include facial dysmorphism and variable degrees of brachytelephalangy (summary by Krawitz et al., 2010). The disorder is caused by a defect in glycosylphosphatidylinositol biosynthesis; see GPIBD1 (610293).
Genetic Heterogeneity of Hyperphosphatasia with Impaired Intellectual Development Syndrome
See also HPMRS2 (614749), caused by mutation in the PIGO gene (614730) on chromosome 9p13; HPMRS3 (614207), caused by mutation in the PGAP2 gene (615187) on chromosome 11p15; HPMRS4 (615716), caused by mutation in the PGAP3 gene (611801) on chromosome 17q12; HPMRS5 (616025), caused by mutation in the PIGW gene (610275) on chromosome 17q12; and HPMRS6 (616809), caused by mutation in the PIGY gene (610662) on chromosome 4q22.
Knaus et al. (2018) provided a review of the main clinical features of the different types of HPMRS, noting that some patients have a distinct pattern of facial anomalies that can be detected by computer-assisted comparison, particularly those with mutations in the PIGV and PGAP3 genes. Individuals with HPMRS have variable increased in alkaline phosphatase (AP) as well as variable decreases in GPI-linked proteins that can be detected by flow cytometry. However, there was no clear correlation between AP levels or GPI-linked protein abnormalities and degree of neurologic involvement, mutation class, or gene involved. Knaus et al. (2018) concluded that a distinction between HPMRS and MCAHS (see, e.g., 614080), which is also caused by mutation in genes involved in GPI biosynthesis, may be artificial and even inaccurate, and that all these disorders should be considered and classified under the more encompassing term of 'GPI biosynthesis defects' (GPIBD).|OMIM|N|
C4551504|Researchers have identified multiple types of oculocutaneous albinism, which are distinguished by their specific skin, hair, and eye color changes and by their genetic cause. Oculocutaneous albinism type 1 is characterized by white hair, very pale skin, and light-colored irises. Type 2 is typically less severe than type 1; the skin is usually a creamy white color and hair may be light yellow, blond, or light brown. Type 3 includes a form of albinism called rufous oculocutaneous albinism, which usually affects dark-skinned people. Affected individuals have reddish-brown skin, ginger or red hair, and hazel or brown irises. Type 3 is often associated with milder vision abnormalities than the other forms of oculocutaneous albinism. Type 4 has signs and symptoms similar to those seen with type 2.\n\nOculocutaneous albinism is a group of conditions that affect coloring (pigmentation) of the skin, hair, and eyes. Affected individuals typically have very fair skin and white or light-colored hair. Long-term sun exposure greatly increases the risk of skin damage and skin cancers, including an aggressive form of skin cancer called melanoma, in people with this condition. Oculocutaneous albinism also reduces pigmentation of the colored part of the eye (the iris) and the light-sensitive tissue at the back of the eye (the retina). People with this condition usually have vision problems such as reduced sharpness; rapid, involuntary eye movements (nystagmus); and increased sensitivity to light (photophobia).\n\nSeveral additional types of this disorder have been proposed, each affecting one or a few families.|MedlinePlus Genetics|N|
C4551505|An inherited disorder of leucine metabolism with characteristics of a highly variable clinical picture ranging from metabolic crisis in infancy to asymptomatic adults. Patients have a variable clinical phenotype with the vast majority of patients being asymptomatic and a small subgroup displaying symptoms of an organic aciduria, usually in association with environmental triggering factors. This disease is due to mutations in the MCCC1 (3q27.1) or MCCC2 (5q12-q13) genes. Mutations in these genes lead to reduced or absent 3-MCC activity, thereby allowing the toxic byproducts of leucine processing to build up and cause clinical symptoms. Inherited autosomal recessively.|SNOMEDCT_US|N|
C4551506|Familial paroxysmal nonkinesigenic dyskinesia (PNKD) is characterized by unilateral or bilateral involuntary movements. Attacks are typically precipitated by coffee, tea, or alcohol; they can also be triggered by excitement, stress, or fatigue, or can be spontaneous. Attacks involve dystonic posturing with choreic and ballistic movements, may be accompanied by a preceding aura, occur while the individual is awake, and are not associated with seizures. Attacks last minutes to hours and rarely occur more than once per day. Attack frequency, duration, severity, and combinations of symptoms vary within and among families. Age of onset is typically in childhood or early teens but can be as late as age 50 years.|GeneReviews|N|
C4551507|Diffusely large eye (with megalocornea) associated with glaucoma.|HPO|N|
C4551508|An autosomal dominant hereditary condition characterized by optic atrophy and progressive visual loss.|NCI|N|
C4551509|Jervell and Lange-Nielsen syndrome (JLNS) is characterized by congenital profound bilateral sensorineural hearing loss and long QTc, usually >500 msec. Prolongation of the QTc interval is associated with tachyarrhythmias, including ventricular tachycardia, episodes of torsade de pointes ventricular tachycardia, and ventricular fibrillation, which may culminate in syncope or sudden death. Iron-deficient anemia and elevated levels of gastrin are also frequent features of JLNS. The classic presentation of JLNS is a deaf child who experiences syncopal episodes during periods of stress, exercise, or fright. Fifty percent of individuals with JLNS had cardiac events before age three years. More than half of untreated children with JLNS die before age 15 years.|GeneReviews|N|
C4551510|Carpenter syndrome is a rare autosomal recessive disorder with the cardinal features of acrocephaly with variable synostosis of the sagittal, lambdoid, and coronal sutures; peculiar facies; brachydactyly of the hands with syndactyly; preaxial polydactyly and syndactyly of the feet; congenital heart defects; growth retardation; mental retardation; hypogenitalism; and obesity. In addition, cerebral malformations, oral and dental abnormalities, coxa valga, genu valgum, hydronephrosis, precocious puberty, and hearing loss may be observed (summary by Altunhan et al., 2011).
Genetic Heterogeneity of Carpenter Syndrome
Carpenter syndrome-2 (CRPT2; 614976), in which the features of Carpenter syndrome are sometimes associated with defective lateralization, is caused by mutation in the MEGF8 gene (604267).|OMIM|N|
C4551511|X-linked sideroblastic anemia is an inherited disorder that prevents developing red blood cells (erythroblasts) from making enough hemoglobin, which is the protein that carries oxygen in the blood. People with X-linked sideroblastic anemia have mature red blood cells that are smaller than normal (microcytic) and appear pale (hypochromic) because of the shortage of hemoglobin. This disorder also leads to an abnormal accumulation of iron in red blood cells. The iron-loaded erythroblasts, which are present in bone marrow, are called ring sideroblasts. These abnormal cells give the condition its name.\n\nThe signs and symptoms of X-linked sideroblastic anemia result from a combination of reduced hemoglobin and an overload of iron. They range from mild to severe and most often appear in young adulthood. Common features include fatigue, dizziness, a rapid heartbeat, pale skin, and an enlarged liver and spleen (hepatosplenomegaly). Over time, severe medical problems such as heart disease and liver damage (cirrhosis) can result from the buildup of excess iron in these organs.|MedlinePlus Genetics|N|
C4551513|A disorder characterized by laboratory test results that indicate an increased number of white blood cells in the blood.|NCI|N|
C4551514|Familial Hemophagocytic lymphohistiocytosis (FHL) is a rare primary immunodeficiency characterized by a macrophage activation syndrome with an onset usually occurring within a few months or less common several years after birth.|MONDO|N|
C4551515|A rare, chronic cutaneous lupus erythematosus disease characterized by red or violaceous, initially pruritic (evolving to painful) papules and plaques located on acral areas (especially dorsal aspects of fingers and toes, while the nose and ear involvement is uncommon), exacerbated by cold and damp conditions, with fissuring and ulceration occasionally observed. Coexistence of discoid lupus erythematosus lesions elsewhere on the body and occasional progression to systemic lupus erythematosus may be associated. Histological examination and direct immunofluorescence studies reveal nonspecific inflammatory lupus erythematosus changes while results of cryoglobulin and cold agglutinin studies are negative.|ORDO|N|
C4551516|An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the hip.|HPO|N|
C4551519|Malfunction of the abducens nerve as manifested by impairment of the ability of the affected eye to be moved outward. Patients who develop abducens nerve palsy often present with binocular horizontal diplopia, which is a double vision when looking at objects side by side. There will be a notable weakness of the ipsilateral lateral rectus muscle leading to a deficit in of eye abduction on the affected side. Some patients may present with a constant head turning movement to maintain binocular fusion and to lessen the degree of diplopia.|HPO|N|
C4551520|A type of kinetic tremor that occurs during target directed movement is called intention tremor. That is, an oscillatory cerebellar ataxia that tends to be absent when the limbs are inactive and during the first part of voluntary movement but worsening as the movement continues and greater precision is required (e.g., in touching a target such as the patient's nose or a physician's finger).|HPO|N|
C4551521|Tremor that occurs during any voluntary movement. It may include visually or non-visually guided movements. Tremor during target directed movement is called intention tremor.|HPO|N|
C4551527|Focal segmental glomerulosclerosis (FSGS) is a pathologic finding in several renal disorders that manifest clinically as proteinuria and progressive decline in renal function. Some patients with FSGS develop the clinical entity called 'nephrotic syndrome' (see NPHS1; 256300), which includes massive proteinuria, hypoalbuminemia, hyperlipidemia, and edema. However, patients with FSGS may have proteinuria in the nephrotic range without other features of the nephrotic syndrome (summary by D'Agati et al., 2004; Mathis et al., 1998).
D'Agati et al. (2011) provided a detailed review of FSGS, emphasizing that the disorder results from defects of the podocyte.
Because of confusion in the literature regarding use of the terms 'nephrotic syndrome' and 'focal segmental glomerulosclerosis' (see NOMENCLATURE section), these disorders in OMIM are classified as NPHS or FSGS according to how they were first designated in the literature.
Genetic Heterogeneity of Focal Segmental Glomerulosclerosis and Nephrotic Syndrome
Focal segmental glomerulosclerosis and nephrotic syndrome are genetically heterogeneous disorders representing a spectrum of hereditary renal diseases. See also FSGS2 (603965), caused by mutation in the TRPC6 gene (603652); FSGS3 (607832), associated with variation in the CD2AP gene (604241); FSGS4 (612551), mapped to chromosome 22q12; FSGS5 (613237), caused by mutation in the INF2 gene (610982); FSGS6 (614131), caused by mutation in the MYO1E gene (601479); FSGS7 (616002), caused by mutation in the PAX2 gene (167409); FSGS8 (616032), caused by mutation in the ANLN gene (616027); FSGS9 (616220), caused by mutation in the CRB2 gene (609720); and FSGS10 (256020), caused by mutation in the LMX1B gene (602575).
See also NPHS1 (256300), caused by mutation in the NPHS1 gene (602716); NPHS2 (600995), caused by mutation in the podocin gene (604766); NPHS3 (610725), caused by mutation in the PLCE1 gene (608414); NPHS4 (256370), caused by mutation in the WT1 gene (607102); NPHS5 (614199), caused by mutation in the LAMB2 gene (150325); NPHS6 (614196), caused by mutation in the PTPRO gene (600579); NPHS7 (615008), caused by mutation in the DGKE gene (601440); NPHS8 (615244), caused by mutation in the ARHGDIA gene (601925); NPHS9 (615573), caused by mutation in the COQ8B gene (615567); NPHS10 (615861), caused by mutation in the EMP2 gene (602334); NPHS11 (616730), caused by mutation in the NUP107 gene (607617); NPHS12 (616892), caused by mutation in the NUP93 gene (614351); NPHS13 (616893), caused by mutation in the NUP205 gene (614352); NPHS14 (617575), caused by mutation in the SGPL1 gene (603729); NPHS15 (617609), caused by mutation in the MAGI2 gene (606382); NPHS16 (617783), caused by mutation in the KANK2 gene (614610), NPHS17 (618176), caused by mutation in the NUP85 gene (170285); NPHS18 (618177), caused by mutation in the NUP133 gene (607613); NPHS19 (618178), caused by mutation in the NUP160 gene (607614); NPHS20 (301028), caused by mutation in the TBC1D8B gene (301027); and NPHS21 (618594) caused by mutation in the AVIL gene (613397).|OMIM|N|
C4551534|Stage IB includes: IB (T1b, N0, M0); IB1(T1b1, N0, M0); IB2 (T1b2, N0, M0). T1b: Clinically visible lesion confined to the cervix or microscopic lesion greater than T1a/IA2. T1b1: Clinically visible lesion 4.0 cm or less in greatest dimension. T1b2: Clinically visible lesion more than 4.0 cm in greatest dimension. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C4551535|Stage IA includes: IA (T1a, N0, M0); IA1 (T1a1, N0, M0); IA2 (T1a2, N0, M0). T1a: Invasive carcinoma diagnosed only by microscopy. Stromal invasion with a maximum depth of 5.0 mm measured from the base of the epithelium and a horizontal spread of 7.0 mm or less. Vascular space involvement, venous or lymphatic, does not affect classification. T1a1: Measured stromal invasion 3.0 mm or less in depth and 7.0 or less horizontal spread. T1a2: Measured stromal invasion more than 3.0 mm and not more than 5.0 mm with a horizontal spread 7.0 mm or less. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C4551536|Tumor without parametrial invasion.|NCI|N|
C4551537|Stage IVA includes: T4, Any N, M0). T4: Tumor invades mucosa of bladder or rectum, and/or extends beyond true pelvis (bullous edema is not sufficient to classify a tumor as T4). M0: No distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C4551538|Plasma cell myeloma that is resistant to treatment.|NCI|N|
C4551539|Stage I includes: (T1, N0, M0). T1: Tumor confined to vagina. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C4551540|Stage II includes: T2, N0, M0. T2: Tumor invades paravaginal tissues but not to pelvic wall. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C4551541|Stage III includes: (T1-3, N1, M0) and (T3, N0, M0). T1: Tumor confined to vagina. T2: Tumor invades paravaginal tissues but not to pelvic wall. T3: Tumor extends to pelvic wall. N0: No regional lymph node metastasis. N1: Pelvic or inguinal lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C4551542|Stage IVA includes: T4, Any N, M0. T4: Tumor invades mucosa of the bladder or rectum and/or extends beyond the true pelvis (bullous edema is not sufficient evidence to classify a tumor as T4). M0: No distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C4551543|Stage I includes: pT1-4, N0, M0, SX. pT1: Tumor limited to the testis and epididymis without vascular/lymphatic invasion; tumor may invade into the tunica albuginea but not the tunica vaginalis. pT2: Tumor limited to the testis and epididymis with vascular/lymphatic invasion, or tumor extending through the tunica albuginea with involvement of the tunica vaginalis. pT3: Tumor invades the spermatic cord with or without vascular/lymphatic invasion. pT4: Tumor invades the scrotum with or without vascular/lymphatic invasion. N0: No regional lymph node metastasis. M0: No distant metastasis. SX: Marker studies not available or not performed. (AJCC 6th and 7th eds.)|NCI|N|
C4551544|Stage II includes: Any pT/TX, N1-3, M0, SX. pTX: Primary tumor cannot be assessed. N1: Metastasis with a lymph node mass 2 cm or less in greatest dimension; or multiple lymph nodes, none more than 2cm in greatest dimension. N2: Metastasis with a lymph node mass more than 2 cm but not more than 5 cm in greatest dimension; or multiple lymph nodes, any one mass greater than 2 cm but not more than 5 cm in greatest dimension. N3: Metastasis with a lymph node mass more than 5 cm in greatest dimension. M0: No distant metastasis. SX: Marker studies not available or not performed. (AJCC 6th and 7th eds.)|NCI|N|
C4551545|Stage III includes: Any pT/TX, Any N, M1, SX. M1: Distant metastasis. SX: Marker studies not available or not performed. (AJCC 6th and 7th eds.)|NCI|N|
C4551546|Hairy cell leukemia that is resistant to treatment.|NCI|N|
C4551548|An anaplastic astrocytoma that arises from the central nervous system and occurs during childhood.|NCI|N|
C4551551|A disorder that belongs to the genetically heterogeneous group of CMT peripheral sensorimotor polyneuropathy diseases.|ORDO|N|
C4551552|VLDLR cerebellar hypoplasia (VLDLR-CH) is characterized by non-progressive congenital ataxia that is predominantly truncal and results in delayed ambulation, moderate-to-profound intellectual disability, dysarthria, strabismus, and seizures. Children either learn to walk very late (often after age 6 years) or never achieve independent ambulation. Brain MRI findings include hypoplasia of the inferior portion of the cerebellar vermis and hemispheres, simplified gyration of the cerebral hemispheres, and small brain stem – particularly the pons.|GeneReviews|N|
C4551554|A disorder characterized by an infectious process involving the bronchi.|NCI|N|
C4551555|Congenital onset of a marked decrease in the number of granulocytes.|HPO|N|
C4551556|Any specific granule deficiency in which the cause of the disease is a mutation in the CEBPE gene.|MONDO|N|
C4551557|Immunodeficiency, centromeric instability, and facial dysmorphism (ICF) syndrome is a rare autosomal recessive disease characterized by facial dysmorphism, immunoglobulin deficiency, and branching of chromosomes 1, 9, and 16 after phytohemagglutinin (PHA) stimulation of lymphocytes. Hypomethylation of DNA of a small fraction of the genome is an unusual feature of ICF patients that is explained by mutations in the DNMT3B gene in some, but not all, ICF patients (Hagleitner et al., 2008).
Genetic Heterogeneity of Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome
See also ICF2 (614069), caused by mutation in the ZBTB24 gene (614064) on chromosome 6q21; ICF3 (616910), caused by mutation in the CDCA7 gene (609937) on chromosome 2q31; and ICF4 (616911), caused by mutation in the HELLS gene (603946) on chromosome 10q23.|OMIM|N|
C4551558|Any gingival fibromatosis in which the cause of the disease is a mutation in the SOS1 gene.|MONDO|N|
C4551559|Leber congenital amaurosis primarily affects the retina, which is the specialized tissue at the back of the eye that detects light and color. This condition causes vision problems, including an increased sensitivity to light (photophobia), involuntary movements of the eyes (nystagmus), and extreme farsightedness (hyperopia). Some people with Senior-Løken syndrome  develop the signs of Leber congenital amaurosis within the first few years of life, while others do not develop vision problems until later in childhood.\n\nNephronophthisis causes fluid-filled cysts to develop in the kidneys beginning in childhood. These cysts impair kidney function, initially causing increased urine production (polyuria), excessive thirst (polydipsia), general weakness, and extreme tiredness (fatigue). Nephronophthisis leads to end-stage renal disease (ESRD) later in childhood or in adolescence. ESRD is a life-threatening failure of kidney function that occurs when the kidneys are no longer able to filter fluids and waste products from the body effectively.\n\nSenior-Løken syndrome is a rare disorder characterized by the combination of two specific features: a kidney condition called nephronophthisis and an eye condition known as Leber congenital amaurosis.|MedlinePlus Genetics|N|
C4551560|Obesity located preferentially in the trunk of the body as opposed to the extremities.|HPO|N|
C4551562|Avascular necrosis of the femoral head (ANFH) is a debilitating disease that usually leads to destruction of the hip joint in the third to fifth decade of life. The disorder is characterized by progressive pain in the groin, mechanical failure of the subchondral bone, and degeneration of the hip joint. Nearly one-half of patients require hip replacement before 40 years of age. ANFH represents a specific form of the broader disease category of osteonecrosis (summary by Mont and Hungerford, 1995).
Genetic Heterogeneity of Primary Avascular Necrosis of the Femoral Head
ANFH2 is caused by mutation in the TRPV4 gene (605427) on chromosome 12q24.
Mutation in COL2A1 has also been found in Legg-Calves-Perthes disease (LCPD; 150600), a form of ANFH in growing children.|OMIM|N|
C4551563|Head circumference below 2 standard deviations below the mean for age and gender.|HPO|N|
C4551564|Decreased width of the bony bridge of the nose.|HPO|N|
C4551565|A row of beadlike prominences at the junction of a rib and its cartilage (i.e., enlarged costochondral joints), resembling a rosary. Note that rachitic rosary would have one bead per rib (a swelling at the costochondral junction), while beaded ribs in the context of multiple rib fractures have multiple beads (fractures) along the same rib.|HPO|N|
C4551567|Any structural abnormality or abnormal count of granulocytes.|HPO|N|
C4551568|Classic Joubert syndrome (JS) is characterized by three primary findings: A distinctive cerebellar and brain stem malformation called the molar tooth sign (MTS). Hypotonia. Developmental delays. Often these findings are accompanied by episodic tachypnea or apnea and/or atypical eye movements. In general, the breathing abnormalities improve with age, truncal ataxia develops over time, and acquisition of gross motor milestones is delayed. Cognitive abilities are variable, ranging from severe intellectual disability to normal. Additional findings can include retinal dystrophy, renal disease, ocular colobomas, occipital encephalocele, hepatic fibrosis, polydactyly, oral hamartomas, and endocrine abnormalities. Both intra- and interfamilial variation are seen.|GeneReviews|N|
C4551570|Syndactyly with fusion of toes two and three.|HPO|N|
C4551571|Cranioectodermal dysplasia (CED) is a ciliopathy with skeletal involvement (narrow thorax, shortened proximal limbs, syndactyly, polydactyly, brachydactyly), ectodermal features (widely spaced hypoplastic teeth, hypodontia, sparse hair, skin laxity, abnormal nails), joint laxity, growth deficiency, and characteristic facial features (frontal bossing, low-set simple ears, high forehead, telecanthus, epicanthal folds, full cheeks, everted lower lip). Most affected children develop nephronophthisis that often leads to end-stage kidney disease in infancy or childhood, a major cause of morbidity and mortality. Hepatic fibrosis and retinal dystrophy are also observed. Dolichocephaly, often secondary to sagittal craniosynostosis, is a primary manifestation that distinguishes CED from most other ciliopathies. Brain malformations and developmental delay may also occur.|GeneReviews|N|
C4551572|A rare inherited form of myofibromatosis caused by autosomal dominant mutation(s) in the PDGFRB gene, encoding platelet-derived growth factor receptor beta. The condition is characterized by the onset of solitary or multicentric benign tumors in the skin, striated muscles, bones, and viscera. The lesions may be present at birth or become apparent in early infancy or even occasionally in adult life.|NCI|N|
C4551573|Uncombable hair syndrome is characterized by silvery, blond, or straw-colored scalp hair that is dry, frizzy, and wiry, has a characteristic sheen, stands away from the scalp in multiple directions, and is impossible to comb. This hair shaft disorder occurs in children and improves with age. The hair growth rate can range from slow to normal (summary by U. Basmanav et al., 2016).
Genetic Heterogeneity of Uncombable Hair Syndrome
See UHS2 (617251), caused by mutation in the TGM3 gene (600238) on chromosome 20p12, and UHS3 (617252), caused by mutation in the TCHH gene (190370) on chromosome 1q21.|OMIM|N|
C4551574|Stage 0 includes: pTis, N0, M0, S0. pTis: Intratubular germ cell neoplasia (carcinoma in situ). N0: regional lymph node metastasis. M0: No distant metastasis. S0: Marker study levels within normal limits. (AJCC 6th and 7th eds.)|NCI|N|
C4551583|Atrophy of the cortex of the cerebrum.|HPO|N|
C4551584|Partial or complete wasting (loss) of brain tissue that was once present.|HPO|N|
C4551589|Eosinophilic esophagitis (EOE) has an incidence of approximately 1 per 10,000 people. Symptoms include difficulty feeding, failure to thrive, vomiting, epigastric or chest pain, dysphagia, and food impaction. Individuals with EOE are predominantly young males with a high rate of atopic disease, and the diagnosis is made by endoscopy and biopsy findings of isolated eosinophils in the esophagus (summary by Rothenberg et al., 2010).
Genetic Heterogeneity of Eosinophilic Esophagitis
Eosinophilic esophagitis-1 (EOE1) is associated with variation at chromosome 7q11.2. Another locus (EOE2; 613412) has been been associated with variation in the TSLP gene (607003) on chromosome 5q22.|OMIM|N|
C4551590|A genetic renal tubular disorder characterized by urinary urate wasting that typically leads to asymptomatic hypouricemia and predisposes to urolithiasis and exercise-induced acute renal failure (EIARF).|ORDO|N|
C4551591|An elevated concentration of high-density lipoprotein cholesterol (HDL) in the blood.|HPO|N|
C4551593|A usually benign tumor composed of solid and cystic nests of epithelial cells resembling transitional epithelium; it is surrounded by an abundant stromal component that is dense and fibroblastic in nature.|MONDO|N|
C4551596|Any structural anomaly of the kidney.|HPO|N|
C4551601|A disorder characterized by an infectious process involving the pelvic cavity.|NCI|N|
C4551602|Noonan syndrome (NS) is characterized by characteristic facies, short stature, congenital heart defect, and developmental delay of variable degree. Other findings can include broad or webbed neck, unusual chest shape with superior pectus carinatum and inferior pectus excavatum, cryptorchidism, varied coagulation defects, lymphatic dysplasias, and ocular abnormalities. Although birth length is usually normal, final adult height approaches the lower limit of normal. Congenital heart disease occurs in 50%-80% of individuals. Pulmonary valve stenosis, often with dysplasia, is the most common heart defect and is found in 20%-50% of individuals. Hypertrophic cardiomyopathy, found in 20%-30% of individuals, may be present at birth or develop in infancy or childhood. Other structural defects include atrial and ventricular septal defects, branch pulmonary artery stenosis, and tetralogy of Fallot. Up to one fourth of affected individuals have mild intellectual disability, and language impairments in general are more common in NS than in the general population.|GeneReviews|N|
C4551620|A disorder characterized by substernal discomfort due to insufficient myocardial oxygenation e.g., angina pectoris.|NCI|N|
C4551623|Arthrochalasia-type EDS is distinguished from other types of EDS by the frequency of congenital hip dislocation and extreme joint laxity with recurrent joint subluxations and minimal skin involvement (Byers et al., 1997; Giunta et al., 2008).
Genetic Heterogeneity of Arthrochalasia-type Ehlers-Danlos Syndrome
See EDSARTH2 (617821), caused by mutation in the COL1A2 gene (120160).|OMIM|N|
C4551624|Primary familial brain calcification (PFBC) is a neurodegenerative disorder with characteristic calcium deposits in the basal ganglia and other brain areas visualized on neuroimaging. Most affected individuals are in good health during childhood and young adulthood and typically present in the fourth to fifth decade with a gradually progressive movement disorder and neuropsychiatric symptoms. The movement disorder first manifests as clumsiness, fatigability, unsteady gait, slow or slurred speech, dysphagia, involuntary movements, or muscle cramping. Neuropsychiatric symptoms, often the first or most prominent manifestations, range from mild difficulty with concentration and memory to changes in personality and/or behavior, to psychosis and dementia. Seizures of various types occur frequently, some individuals experience chronic headache and vertigo; urinary urgency or incontinence may be present.|GeneReviews|N|
C4551625|A white appearance of the nails can result from whitening of the nail plate (true leukonychia), the nail bed (pseudoleukonychia), or neither (apparent leukonychia), and can be due to a variety of factors including infectious, metabolic, or systemic diseases, trauma, or drugs. One of the rare causes of whitening of the nail plate is hereditary leukonychia (summary by Kiuru et al., 2011). Leukonychia may involve all of the nail (leukonychia totalis) or only part of the nail (leukonychia partialis), or can appear as one or more transverse bands (leukonychia striata) or white spots (leukonychia punctata).
For a list of other nonsyndromic congenital nail disorders and a discussion of genetic heterogeneity, see NDNC1 (161050).|OMIM|N|
C4551626|Unroofed coronary sinus (CS) is a rare congenital cardiac anomaly in which there is partial (either focal or fenestrated) or complete absence of the roof of the CS, which results in a communication between the CS and the LA. Unroofed CS is the rarest type of atrial septal defect. It is often associated with persistent left superior vena cava (LSVC) and other forms of complex congenital heart disease, usually heterotaxia syndromes. The morphological types have been classified into 4 groups|HPO|N|
C4551627|An abnormally reduced number of granulocytes in the blood.|HPO|N|
C4551630|Autosomal recessive congenital ichthyosis (ARCI) encompasses several forms of nonsyndromic ichthyosis. Although most neonates with ARCI are collodion babies, the clinical presentation and severity of ARCI may vary significantly, ranging from harlequin ichthyosis, the most severe and often fatal form, to lamellar ichthyosis (LI) and (nonbullous) congenital ichthyosiform erythroderma (CIE). These phenotypes are now recognized to fall on a continuum; however, the phenotypic descriptions are clinically useful for clarification of prognosis and management. Infants with harlequin ichthyosis are usually born prematurely and are encased in thick, hard, armor-like plates of cornified skin that severely restrict movement. Life-threatening complications in the immediate postnatal period include respiratory distress, feeding problems, and systemic infection. Collodion babies are born with a taut, shiny, translucent or opaque membrane that encases the entire body and lasts for days to weeks. LI and CIE are seemingly distinct phenotypes: classic, severe LI with dark brown, plate-like scale with no erythroderma and CIE with finer whiter scale and underlying generalized redness of the skin. Affected individuals with severe involvement can have ectropion, eclabium, scarring alopecia involving the scalp and eyebrows, and palmar and plantar keratoderma. Besides these major forms of nonsyndromic ichthyosis, a few rare subtypes have been recognized, such as bathing suit ichthyosis, self-improving collodion ichthyosis, or ichthyosis-prematurity syndrome.|GeneReviews|N|
C4551632|A recurrent form of pancreatitis.|HPO|N|
C4551634|A disorder characterized by a sudden or brief burst of light.|NCI|N|
C4551635|Complete lack of the M photopigment, which is replaced with the L photopigment. Affected individuals tend to confuse red and green.|HPO|N|
C4551636|Insidious, chronic and recurrent disorder, characterised by small and elevated oval corneal intraepithelial, whitish-gray opacities, extending to the entire anterior surface of the cornea of both eyes. Corneal lesions show a tendency for the central pupillary area distribution with mild or absent conjunctival inflammation and no association to systemic disease.|SNOMEDCT_US|N|
C4551637|Primary familial and congenital polycythemia (PFCP) is characterized by isolated erythrocytosis in an individual with a normal-sized spleen and absence of disorders causing secondary erythrocytosis. Clinical manifestations relate to the erythrocytosis and can include plethora, the hyperviscosity syndrome (headache, dizziness, fatigue, lassitude, visual and auditory disturbances, paresthesia, myalgia), altered mental status caused by hypoperfusion and local hypoxia, and arterial and/or venous thromboembolic events. Although the majority of individuals with PFCP have only mild manifestations of hyperviscosity such as dizziness or headache, some affected individuals have had severe and even fatal complications including arterial hypertension, intracerebral hemorrhage, deep vein thrombosis, coronary disease, and myocardial infarction. To date 116 affected individuals from 24 families have been reported.|GeneReviews|N|
C4551642|Stage 0is includes: Tis, N0, M0. Tis: Carcinoma in situ: ""flat tumor"". N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C4551646|Oxycephaly (from Greek oxus, sharp, and kephalos, head) refers to a conical or pointed shape of the skull.|HPO|N|
C4551647|Long QT syndrome (LQTS) is a cardiac electrophysiologic disorder, characterized by QT prolongation and T-wave abnormalities on the EKG that are associated with tachyarrhythmias, typically the ventricular tachycardia torsade de pointes (TdP). TdP is usually self-terminating, thus causing a syncopal event, the most common symptom in individuals with LQTS. Such cardiac events typically occur during exercise and emotional stress, less frequently during sleep, and usually without warning. In some instances, TdP degenerates to ventricular fibrillation and causes aborted cardiac arrest (if the individual is defibrillated) or sudden death. Approximately 50% of untreated individuals with a pathogenic variant in one of the genes associated with LQTS have symptoms, usually one to a few syncopal events. While cardiac events may occur from infancy through middle age, they are most common from the preteen years through the 20s. Some types of LQTS are associated with a phenotype extending beyond cardiac arrhythmia. In addition to the prolonged QT interval, associations include muscle weakness and facial dysmorphism in Andersen-Tawil syndrome (LQTS type 7); hand/foot, facial, and neurodevelopmental features in Timothy syndrome (LQTS type 8); and profound sensorineural hearing loss in Jervell and Lange-Nielson syndrome.|GeneReviews|N|
C4551649|Congenital dysplasia of the hip (CDH) is an abnormality of the seating of the femoral head in the acetabulum. Its severity ranges from mild instability of the femoral head with slight capsular laxity, through moderate lateral displacement of the femoral head, without loss of contact of the head with the acetabulum, up to complete dislocation of the femoral head from the acetabulum. It is one of the most common skeletal congenital anomalies (summary by Sollazzo et al., 2000).
Acetabular dysplasia is an idiopathic, localized developmental dysplasia of the hip that is characterized by a shallow hip socket and decreased coverage of the femoral head. Its radiologic criteria include the center-edge angle of Wiberg, the Sharp angle, and the acetabular roof obliquity. Most patients with acetabular dysplasia develop osteoarthritis (165720) after midlife, and even mild acetabular dysplasia can cause hip osteoarthritis (summary by Mabuchi et al., 2006).
CDH occurs as an isolated anomaly or with more general disorders represented by several syndromes and with chromosomal abnormalities such as trisomy 18 (Wynne-Davies, 1970).
Genetic Heterogeneity of Developmental Dysplasia of the Hip
Developmental dysplasia of the hip-1 (DDH1) maps to chromosome 13q22; DDH2 (615612) maps to chromosome 3p21.
DDH3 (620690) is caused by mutation in the LRP1 gene (107770) on chromosome 12q13.|OMIM|N|
C4551650|A pathological narrowing of the esophagus that is caused by the development of a ring of scar tissue that constricts the esophageal lumen.|HPO|N|
C4551653|A finding based on laboratory test results that indicate an increase in the level of alkaline phosphatase in a blood specimen.|NCI|N|
C4551654|A type of sacrococcygeal teratoma located anterior to the sacrum and entirely inside the body (Altman type IV).|HPO|N|
C4551655|Patient complaints (symptoms), physical/laboratory findings(signs) related to the cardiovascular system.|NCI|N|
C4551659|A subtype of fundus hemorrhage occurring within the neurosensory retina. Intraretinal hemorrhages may be 'dot' or' blot' shaped or flame shaped depending upon their depth within the retina.|HPO|N|
C4551661|A type of sideroblastic anemia that is not responsive to treatment.|HPO|N|
C4551670|A manifest or latent ocular deviation in which one or both eyes tends to deviate temporally.|HPO|N|
C4551675|Abnormal thickening of the skin of the palms of the hands and the soles of the feet.|HPO|N|
C4551676|An abnormal high-pitched noisy sound, occurring during inhalation or exhalation caused by the incomplete obstruction in the throat.|HPO|N|
C4551677|Myelocystocele is characterized by a large, ependyma-lined, cystic dilation of the caudal end of the central canal of the spinal cord; it projects dorsally through a lamina defect, with overlying varying amounts of lipomatous subcutaneous tissue. Myelocystoceles are associated with a tethered cord and meningocele, which communicates with the spinal subarachnoid space, but not with the central canal cyst.|HPO|N|
C4551679|Autosomal recessive primary hypertrophic osteoarthropathy-1 (PHOAR1) is a rare familial disorder characterized by digital clubbing, osteoarthropathy, and acroosteolysis, with variable features of pachydermia, delayed closure of the fontanels, and congenital heart disease (summary by Uppal et al., 2008; Radhakrishnan et al., 2020).
Secondary hypertrophic osteoarthropathy, or pulmonary hypertrophic osteoarthropathy, is a different disorder characterized by digital clubbing secondary to acquired diseases, most commonly intrathoracic neoplasm (Uppal et al., 2008).
Touraine et al. (1935) recognized pachydermoperiostosis as a familial disorder with 3 clinical presentations or forms: a complete form characterized by periostosis and pachydermia; an incomplete form with bone changes but without pachydermia; and a 'forme fruste' with pachydermia and minimal skeletal changes.
Genetic Heterogeneity
Autosomal recessive primary hypertrophic osteoarthropathy-2-enteropathy syndrome (PHOAR2E; 614441) is caused by mutation in the SLCO2A1 gene (601460) on chromosome 3q22.
Families with an autosomal dominant form of primary hypertrophic osteoarthropathy have also been reported (PHOAD; 167100).|OMIM|N|
C4551681|Aggressive periodontitis, which may be generalized or localized, is characterized by severe and protracted gingival infections, leading to tooth loss. Amounts of microbial deposits are generally inconsistent with the severity of periodontal tissue destruction and the progression of attachment and bone loss may be self arresting (American Academy of Periodontology, 2000). The term 'aggressive periodontitis' replaced the terms 'early-onset,' 'prepubertal,' or 'juvenile periodontitis' at a 1999 International workshop for a classification of periodontal disease and conditions, where it was decided that the classification terminology should not be age dependent or require knowledge of rates of progression (Armitage, 1999).
Genetic Heterogeneity of Aggressive Periodontitis
Aggressive periodontitis-2 (608526) has been mapped to chromosome 1q25.|OMIM|N|
C4551683|Pheochromocytoma originating from the adrenal medulla.|HPO|N|
C4551685|The presence of a paralyzed diaphragm.|HPO|N|
C4551686|A malignant neoplasm arising exclusively from the soft tissues.|NCI|N|
C4551687|A type of sarcoma (A connective tissue neoplasm formed by proliferation of mesodermal cells) that develops from soft tissues like fat, muscle, nerves, fibrous tissues, blood vessels, or deep skin tissues.|HPO|N|
C4551689|A group of breathing disorders characterized by abnormal respiratory patterns or insufficient ventilation during sleep.|NCI|N|
C4551690|A swelling formed at the base of umbilicus associated with a patent urachus which results from an allantoic remnant. The urachus is a fibrous remnant of the allantois which communicates from the apex of the urinary bladder to the umbilicus. Failed obliteration of the urachus can lead to various abnormalities|HPO|N|
C4551691|Narrowing of the urethra associated with inflammation or scar tissue.|HPO|N|
C4551693|WFS1 Wolfram syndrome spectrum disorder (WFS1-WSSD) is a progressive neurodegenerative disorder characterized by onset of diabetes mellitus (DM) and optic atrophy (OA) before age 16 years, and typically associated with other endocrine abnormalities, sensorineural hearing loss, and progressive neurologic abnormalities (cerebellar ataxia, peripheral neuropathy, dementia, psychiatric illness, and urinary tract atony). Although DM is mostly insulin-dependent, overall the course is milder (with lower prevalence of microvascular disease) than that seen in isolated DM. OA typically results in significantly reduced visual acuity in the first decade. Sensorineural hearing impairment ranges from congenital deafness to milder, sometimes progressive, hearing impairment.|GeneReviews|N|
C4551694|A cutaneous eruption that consists of multiple (at least two) concentric erythematous rings.|HPO|N|
C4551698|A disorder characterized by an eruption of papules and pustules, typically appearing in face, scalp, upper chest and back.|NCI|N|
C4551702|Branchiootorenal spectrum disorder (BORSD) is characterized by malformations of the outer, middle, and inner ear associated with conductive, sensorineural, or mixed hearing impairment, branchial fistulae and cysts, and renal malformations ranging from mild renal hypoplasia to bilateral renal agenesis. Some individuals progress to end-stage renal disease (ESRD) later in life. Extreme variability can be observed in the presence, severity, and type of branchial arch, otologic, audiologic, and renal abnormality from right side to left side in an affected individual and also among individuals in the same family.|GeneReviews|N|
C4551705|A type of chromosomal aberration characterized by reduced resistance of chromosomes to change or deterioration.|HPO|N|
C4551714|An inherited retinal disease subtype in which the rod photoreceptors appear to be more severely affected than the cone photoreceptors. Typical presentation is with nyctalopia (due to rod dysfunction) followed by loss of mid-peripheral field of vision, which gradually extends and leaves many patients with a small central island of vision due to the preservation of macular cones.|HPO|N|
C4551715|An abnormality of the retina characterized by pigment deposition. It is typically associated with migration and proliferation of macrophages or retinal pigment epithelial cells into the retina; melanin from these cells causes the pigmentary changes. Pigmentary retinopathy is a common final pathway of many retinal conditions and is often associated with visual loss.|HPO|N|
C4551721|Perrault syndrome is characterized by sensorineural hearing loss (SNHL) in males and females and ovarian dysfunction in females. SNHL is bilateral and ranges from profound with prelingual (congenital) onset to moderate with early-childhood onset. When onset is in early childhood, hearing loss can be progressive. Ovarian dysfunction ranges from gonadal dysgenesis (absent or streak gonads) manifesting as primary amenorrhea to primary ovarian insufficiency (POI) defined as cessation of menses before age 40 years. Fertility in affected males is reported as normal (although the number of reported males is limited). Neurologic features described in some individuals with Perrault syndrome include learning difficulties and developmental delay, cerebellar ataxia, and motor and sensory peripheral neuropathy.|GeneReviews|N|
C4551722|A neural tube defect characterized by sac-like protrusions of the brain and the membranes that cover it through openings in the skull.|HPO|N|
C4551724|Death in utero.|NCI|N|
C4551734|A manifest or latent ocular deviation in which one or both eyes tends to deviate nasally.|HPO|N|
C4551747|A disorder characterized by an uncomfortable and temporary sensation of intense body warmth, flushing, sometimes accompanied by sweating upon cooling.|NCI|N|
C4551755|A disorder characterized by acute inflammation to the vermiform appendix caused by a pathogenic agent with gangrenous changes resulting in the rupture of the appendiceal wall. The appendiceal wall rupture causes the release of inflammatory and bacterial contents from the appendiceal lumen into the abdominal cavity.|NCI|N|
C4551756|Waldenstrom macroglobulinemia that does not respond to treatment.|NCI|N|
C4551761|A state of abnormally strong desire for sleep during the daytime.|HPO|N|
C4551763|Stage I includes: I (T1, N0, M0); IA (T1a, N0, M0); IA1 (T1a1, N0, M0); IA2 (T1a2, N0, M0); IB (T1b, N0, M0); IB1(T1b1, N0, M0); IB2 (T1b2, N0, M0). T1: Cervical carcinoma confined to uterus (extension to corpus should be disregarded). T1a: Invasive carcinoma diagnosed only by microscopy. Stromal invasion with a maximum depth of 5.0 mm measured from the base of the epithelium and a horizontal spread of 7.0 mm or less. Vascular space involvement, venous or lymphatic, does not affect classification. T1a1: Measured stromal invasion 3.0 mm or less in depth and 7.0 or less horizontal spread. T1a2: Measured stromal invasion more than 3.0mm and not more than 5.0 mm with a horizontal spread 7.0mm or less. T1b: Clinically visible lesion confined to the cervix or microscopic lesion greater than T1a/IA2. T1b1: Clinically visible lesion 4.0 cm or less in greatest dimension. T1b2: Clinically visible lesion more than 4.0 cm in greatest dimension. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C4551764|Stage II includes: II (T2, N0, M0); IIA (T2a, N0, M0); IIB (T2b, N0, M0). T2: Cervical carcinoma invades beyond uterus but not to pelvic wall or to lower third of vagina. T2a: Tumor without parametrial invasion. T2b: Tumor with parametrial invasion. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th ed.)|NCI|N|
C4551765|Stage III includes: III (T3, N0, M0); IIIA (T3a, N0, M0); IIIB (T1, N1, M0), (T2, N1, M0), (T3a, N1, M0), (T3b, Any N, M0). T3: Tumor extends to pelvic wall and/or involves lower third of vagina, and/or causes hydronephrosis or non-functioning kidney. T3a: Tumor involves lower third of vagina, no extension to pelvic wall. T3b: Tumor extends to pelvic wall and/or causes hydronephrosis or non functioning kidney. N1: Regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C4551767|Blue and green cones only; no functional red cones.|HPO|N|
C4551768|CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) is characterized by mid-adult onset of recurrent ischemic stroke, cognitive decline progressing to dementia, a history of migraine with aura, mood disturbance, apathy, and diffuse white matter lesions and subcortical infarcts on neuroimaging.|GeneReviews|N|
C4551769|Benign familial infantile seizures (BFIS) is a seizure disorder of early childhood with age at onset from 3 months up to 24 months. It is characterized by brief seizures beginning with slow deviation of the head and eyes to 1 side and progressing to generalized motor arrest and hypotonia, apnea and cyanosis, and limb jerks. Seizures usually occur in clusters over a day or several days. The ictal EEG shows focal parietal-temporal activity, whereas the interictal EEG is normal. Concurrent and subsequent psychomotor and neurologic development are normal (Franzoni et al., 2005).
See also benign familial neonatal seizures (BFNS1; 121200).
Deprez et al. (2009) provided a review of the genetics of epilepsy syndromes starting in the first year of life, and included a diagnostic algorithm.
Genetic Heterogeneity of Benign Familial Infantile Seizures
The BFIS1 locus has been mapped to chromosome 19q. BFIS2 (605751) is caused by mutation in the PRRT2 gene on chromosome 16p11. BFIS3 (607745), which is caused by the mutations in the SCN2A gene (182390) on chromosome 2q24, has a slightly earlier age at onset and is sometimes termed benign familial 'neonatal-infantile' seizures. BFIS4 (612627) has been mapped to chromosome 1p. BFIS5 (617080) is caused by mutation in the SCN8A gene (600702) on chromosome 12q13. BFIS6 (see 610353) is caused by mutation in the CHRNA2 gene (118502) on chromosome 8p21.|OMIM|N|
C4551771|Kleefstra syndrome is characterized by intellectual disability, autistic-like features, childhood hypotonia, and distinctive facial features. The majority of individuals function in the moderate-to-severe spectrum of intellectual disability although a few individuals have mild delay and total IQ within low-normal range. While most have severe expressive speech delay with little speech development, general language development is usually at a higher level, making nonverbal communication possible. A complex pattern of other findings can also be observed; these include heart defects, renal/urologic defects, genital defects in males, severe respiratory infections, epilepsy / febrile seizures, psychiatric disorders, and extreme apathy or catatonic-like features after puberty.|GeneReviews|N|
C4551773|Zimmermann-Laband syndrome is a rare disorder characterized by gingival fibromatosis, dysplastic or absent nails, hypoplasia of the distal phalanges, scoliosis, hepatosplenomegaly, hirsutism, and abnormalities of the cartilage of the nose and/or ears (summary by Balasubramanian and Parker, 2010).
Genetic Heterogeneity of Zimmermann-Laband Syndrome
ZLS2 (616455) is caused by mutation in the ATP6V1B2 gene (606939) on chromosome 8p21. ZLS3 (618658) is caused by mutation in the KCNN3 gene (602983) on chromosome 1q21.|OMIM|N|
C4551774|Feingold syndrome 1 (referred to as FS1 in this GeneReview) is characterized by digital anomalies (shortening of the 2nd and 5th middle phalanx of the hand, clinodactyly of the 5th finger, syndactyly of toes 2-3 and/or 4-5, thumb hypoplasia), microcephaly, facial dysmorphism (short palpebral fissures and micrognathia), gastrointestinal atresias (primarily esophageal and/or duodenal), and mild-to-moderate learning disability.|GeneReviews|N|
C4551775|Knobloch syndrome-1 (KNO1) is an autosomal recessive developmental disorder primarily characterized by typical eye abnormalities, including high myopia, cataracts, dislocated lens, vitreoretinal degeneration, and retinal detachment, with occipital skull defects, which can range from occipital encephalocele to occult cutis aplasia (summary by Aldahmesh et al., 2011).
Genetic Heterogeneity of Knobloch Syndrome
KNO2 (618458) is caused by mutation in the PAK2 gene (605022) on chromosome 3q29.|OMIM|N|
C4551776|Ritscher-Schinzel syndrome (RSS) is a clinically recognizable condition that includes the cardinal findings of craniofacial features, cerebellar defects, and cardiovascular malformations resulting in the alternate diagnostic name of 3C syndrome. Dysmorphic facial features may include brachycephaly, hypotonic face with protruding tongue, flat appearance of the face on profile view, short midface, widely spaced eyes, downslanted palpebral fissures, low-set ears with overfolding of the upper helix, smooth or short philtrum, and high or cleft palate. Affected individuals also typically have a characteristic metacarpal phalangeal profile showing a consistent wavy pattern on hand radiographs. RSS is associated with variable degrees of developmental delay and intellectual disability. Eye anomalies and hypercholesterolemia may be variably present.|GeneReviews|N|
C4551777|A rare, genetic motor neuron disease characterized by a peripheral and cranial neuropathy, neuronal loss in anterior horns and atrophy of spinal sensory tracts, causing muscle weakness, sensory loss, diaphragmatic paralysis and respiratory insufficiency, and multiple cranial nerve deficits such as sensorineural hearing loss, bulbar symptoms, and loss of vision due to optic atrophy. Depending on the transporter affected, Riboflavin transporter deficiency 2 (RFVT2) and Riboflavin transporter deficiency 3 (RFVT3) are distinguished.|ORDO|N|
C4551802|Abnormal elevation of the floor of the posterior fossa including occipital condyles and foramen magnum.|HPO|N|
C4551804|Brugada syndrome is characterized by cardiac conduction abnormalities (ST segment abnormalities in leads V1-V3 on EKG and a high risk for ventricular arrhythmias) that can result in sudden death. Brugada syndrome presents primarily during adulthood, although age at diagnosis may range from infancy to late adulthood. The mean age of sudden death is approximately 40 years. Clinical presentations may also include sudden infant death syndrome (SIDS; death of a child during the first year of life without an identifiable cause) and sudden unexpected nocturnal death syndrome (SUNDS), a typical presentation in individuals from Southeast Asia. Other conduction defects can include first-degree AV block, intraventricular conduction delay, right bundle branch block, and sick sinus syndrome.|GeneReviews|N|
C4551824|Any Oguchi disease in which the cause of the disease is a mutation in the SAG gene.|MONDO|N|
C4551825|Imerslund-Grasbeck syndrome (IGS) or selective vitamin B12 (cobalamin) malabsorption with proteinuria is a rare autosomal recessive disorder characterized by vitamin B12 deficiency commonly resulting in megaloblastic anemia, which is responsive to parenteral vitamin B12 therapy and appears in childhood.|ORDO|N|
C4551828|A disorder characterized by inhibition of fetal growth resulting in the inability of the fetus to achieve its potential weight.|NCI|N|
C4551831|Urticaria caused by physical agents, such as heat, cold, light, friction.|HPO|N|
C4551835|Presence of persistent islands of renal blastema in the postnatal kidney, anywhere within a renal lobe (a portion of a kidney consisting of a renal pyramid and the renal cortex above it).|HPO|N|
C4551836|Abnormally persistent foci of embryonal immature blastema located in the superficial cortical region (perilobar).|HPO|N|
C4551850|Focal seizure with eyelid myoclonia, not eyelid myoclonias in the context of absence seizures.|HPO|N|
C4551851|Cornelia de Lange syndrome (CdLS) encompasses a spectrum of findings from mild to severe. Severe (classic) CdLS is characterized by distinctive facial features, growth restriction (prenatal onset; <5th centile throughout life), hypertrichosis, and upper-limb reduction defects that range from subtle phalangeal abnormalities to oligodactyly (missing digits). Craniofacial features include synophrys, highly arched and/or thick eyebrows, long eyelashes, short nasal bridge with anteverted nares, small widely spaced teeth, and microcephaly. Individuals with a milder phenotype have less severe growth, cognitive, and limb involvement, but often have facial features consistent with CdLS. Across the CdLS spectrum IQ ranges from below 30 to 102 (mean: 53). Many individuals demonstrate autistic and self-destructive tendencies. Other frequent findings include cardiac septal defects, gastrointestinal dysfunction, hearing loss, myopia, and cryptorchidism or hypoplastic genitalia.|GeneReviews|N|
C4551853|An elevation in bone density in one or more diaphyses. Sclerosis is normally detected on a radiograph as an area of increased opacity.|HPO|N|
C4551854|Hypoplastic left heart syndrome results from defective development of the aorta proximal to the entrance of the ductus arteriosus and hypoplasia of the left ventricle and mitral valve. As a result of the abnormal circulation, the ductus arteriosus and foramen ovale are patent and the right atrium, right ventricle, and pulmonary artery are enlarged (Brekke, 1953).
Genetic Heterogeneity of Hypoplastic Left Heart Syndrome
Hypoplastic left heart syndrome-2 (HLHS2; 614435) is caused by mutation in the NKX2-5 gene (600584) on chromosome 5q35.1.
Somatic mutations in the HAND1 gene (602406) have been identified in tissue samples from patients with HLHS.|OMIM|N|
C4551855|A disorder characterized by an infectious process involving the breast.|NCI|N|
C4551856|Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013).
There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, 218330).
Genetic Heterogeneity of Asphyxiating Thoracic Dysplasia
SRTD1 has been mapped to chromosome 15q13. See also SRTD2 (611263), caused by mutation in the IFT80 gene (611177); SRTD3 (613091), caused by mutation in the DYNC2H1 gene (603297); SRTD4 (613819), caused by mutation in the TTC21B gene (612014); SRTD5 (614376), caused by mutation in the WDR19 gene (608151); SRTD6 (263520), caused by mutation in the NEK1 gene (604588); SRTD7 (614091), caused by mutation in the WDR35 gene (613602); SRTD8 (615503), caused by mutation in the WDR60 gene (615462); SRTD9 (266920), caused by mutation in the IFT140 gene (614620); SRTD10 (615630), caused by mutation in the IFT172 gene (607386); SRTD11 (615633), caused by mutation in the WDR34 gene (613363); SRTD13 (616300), caused by mutation in the CEP120 gene (613446); SRTD14 (616546), caused by mutation in the KIAA0586 gene (610178); SRTD15 (617088), caused by mutation in the DYNC2LI1 gene (617083); SRTD16 (617102), caused by mutation in the IFT52 gene (617094); SRTD17 (617405), caused by mutation in the TCTEX1D2 gene (617353); SRTD18 (617866), caused by mutation in the IFT43 gene (614068); SRTD19 (617895), caused by mutation in the IFT81 gene (605489); SRTD20 (617925), caused by mutation in the INTU gene (610621); and SRTD21 (619479), caused by mutation in the KIAA0753 gene (617112).
See also SRTD12 (Beemer-Langer syndrome; 269860).|OMIM|N|
C4551859|Rubinstein-Taybi syndrome (RSTS) is characterized by distinctive facial features, broad and often angulated thumbs and halluces, short stature, and moderate-to-severe intellectual disability. The characteristic craniofacial features are downslanted palpebral fissures, low-hanging columella, high palate, grimacing smile, and talon cusps. Prenatal growth is often normal, then height, weight, and head circumference percentiles rapidly drop in the first few months of life. Short stature is typical in adulthood. Obesity may develop in childhood or adolescence. Average IQ ranges between 35 and 50; however, developmental outcome varies considerably. Some individuals with EP300-RSTS have normal intellect. Additional features include ocular abnormalities, hearing loss, respiratory difficulties, congenital heart defects, renal abnormalities, cryptorchidism, feeding problems, recurrent infections, and severe constipation.|GeneReviews|N|
C4551860|Ullrich congenital muscular dystrophy-1 (UCMD1) is characterized by generalized muscle weakness and striking hypermobility of distal joints in conjunction with variable contractures of more proximal joints and normal intelligence. Additional findings may include kyphoscoliosis, protruded calcanei, and follicular hyperkeratosis. Some patients manifest at birth and never achieve independent ambulation, whereas others maintain ambulation into adulthood. Progressive scoliosis and deterioration of respiratory function is a typical feature (summary by Kirschner, 2013).
Genetic Heterogeneity of Ullrich Congenital Muscular Dystrophy
See also UCMD1B (620727), caused by mutation in the COL6A2 gene (120240) on chromosome 21q22; UCMD1C (620728), caused by mutation in the COL6A3 gene (120250) on chromosome 2q37; and UCMD2 (616470), caused by mutation in the COL12A1 gene (120320) on chromosome 6q13-q14.|OMIM|N|
C4551861|Hereditary hemorrhagic telangiectasia (HHT) is characterized by the presence of multiple arteriovenous malformations (AVMs) that lack intervening capillaries and result in direct connections between arteries and veins. The most common clinical manifestation is spontaneous and recurrent nosebleeds (epistaxis) beginning on average at age 12 years. Telangiectases (small AVMs) are characteristically found on the lips, tongue, buccal and gastrointestinal (GI) mucosa, face, and fingers. The appearance of telangiectases is generally later than epistaxis but may be during childhood. Large AVMs occur most often in the lungs, liver, or brain; complications from bleeding or shunting may be sudden and catastrophic. A minority of individuals with HHT have GI bleeding, which is rarely seen before age 50 years.|GeneReviews|N|
C4551862|Progressive supranuclear palsy (PSP) is the second most frequent cause of degenerative parkinsonism. In addition to parkinsonism, the clinical symptoms include early postural instability, supranuclear gaze palsy, and cognitive decline. Neuropathologically, the disorder is characterized by abundant neurofibrillary tangles, which differ in both distribution and composition from those associated with Alzheimer disease. In progressive supranuclear palsy, the tangles are primarily localized to subcortical regions and are found in both neurons and glia, whereas in Alzheimer disease they are more widespread, largely cortical, and limited to neurons. They also have different characteristics at the ultrastructural level (Baker et al., 1999).
Kertesz (2003) suggested the term 'Pick complex' to represent the overlapping syndromes of frontotemporal dementia (FTD; 600274), primary progressive aphasia (PPA), corticobasal degeneration (CBD), progressive supranuclear palsy, and FTD with motor neuron disease. He noted that frontotemporal dementia may also be referred to as 'clinical Pick disease,' and that the term 'Pick disease' (172700) should be restricted to the pathologic finding of Pick bodies.
Genetic Heterogeneity of Progressive Supranuclear Palsy
Other loci for PSP have been mapped to chromosome 1q31 (PSNP2; 609454) and 11p12-p11 (PSNP3; 610898).
See also Parkinson-dementia syndrome and atypical progressive supranuclear palsy (260540).|OMIM|N|
C4551863|The spectrum of clinical manifestations of MAPT-related frontotemporal dementia (MAPT-FTD) has expanded from its original description of frontotemporal dementia and parkinsonian manifestations to include changes in behavior, motor function, memory, and/or language. A recent retrospective study suggested that the majority of affected individuals have either behavioral changes consistent with a diagnosis of behavioral variant FTD (bvFTD) or, less commonly, a parkinsonian syndrome (i.e., progressive supranuclear palsy, corticobasal syndrome, or Parkinson disease). Fewer than 5% of people with MAPT-FTD have primary progressive aphasia or Alzheimer disease. Clinical presentation may differ between and within families with the same MAPT variant. MAPT-FTD is a progressive disorder that commonly ends with a relatively global dementia in which some affected individuals become mute. Progression of motor impairment in affected individuals results in some becoming chairbound and others bedbound. Mean disease duration is 9.3 (SD: 6.4) years but is individually variable and can be more than 30 years in some instances.|GeneReviews|N|
C4551864|Most commonly, IRF6-related disorders span a spectrum from isolated cleft lip and palate and Van der Woude syndrome (VWS) at the mild end to popliteal pterygium syndrome (PPS) at the more severe end. In rare instances, IRF6 pathogenic variants have also been reported in individuals with nonsyndromic orofacial cleft (18/3,811; 0.47%) and in individuals with spina bifida (2/192). Individuals with VWS show one or more of the following anomalies: Congenital, usually bilateral, paramedian lower-lip fistulae (pits) or sometimes small mounds with a sinus tract leading from a mucous gland of the lip. Cleft lip (CL). Cleft palate (CP). Note: Cleft lip with or without cleft palate (CL±P) is observed about twice as often as CP only. Submucous cleft palate (SMCP). The PPS phenotype includes the following: CL±P. Fistulae of the lower lip. Webbing of the skin extending from the ischial tuberosities to the heels. In males: bifid scrotum and cryptorchidism. In females: hypoplasia of the labia majora. Syndactyly of fingers and/or toes. Anomalies of the skin around the nails. A characteristic pyramidal fold of skin overlying the nail of the hallux (almost pathognomonic). In some nonclassic forms of PPS: filiform synechiae connecting the upper and lower jaws (syngnathia) or the upper and lower eyelids (ankyloblepharon). Other musculoskeletal anomalies may include spina bifida occulta, talipes equinovarus, digital reduction, bifid ribs, and short sternum. In VWS, PPS, IRF6-related neural tube defect, and IRF6-related orofacial cleft, growth and intelligence are typical.|GeneReviews|N|
C4551865|Stage IA includes: pT1, N0, M0, S0. pT1: Tumor limited to the testis and epididymis without vascular/lymphatic invasion; tumor may invade into the tunica albuginea but not the tunica vaginalis. N0: No regional lymph node metastasis. M0: No distant metastasis. S0: Marker study levels within normal limits. (AJCC 6th and 7th eds.)|NCI|N|
C4551866|Stage IB includes: (pT2, N0, M0, S0); (pT3, N0, M0, S0); (pT4, N0, M0, S0). pT2: Tumor limited to the testis and epididymis with vascular/lymphatic invasion, or tumor extending through the tunica albuginea with involvement of the tunica vaginalis. pT3: Tumor invades the spermatic cord with or without vascular/lymphatic invasion. pT4: Tumor invades the scrotum with or without vascular/lymphatic invasion. N0: No regional lymph node metastasis. M0: No distant metastasis. S0: Marker study levels within normal limits. (AJCC 6th and 7th eds.)|NCI|N|
C4551868|Stage IIB includes: T2b, N0, M0. T2b: Tumor with parametrial invasion. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C4551869|Stage I includes: T1, N0, M0. T1: Nasopharyngeal cancer with tumor confined to the nasopharynx, or tumor extending to oropharynx and/or nasal cavity without parapharyngeal extension. Parapharyngeal extension denotes posterolateral infiltration of tumor. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C4551874|Ss blood group antigens reside on the red-cell glycoprotein GYPB. The S and s antigens result from a polymorphism at amino acid 29 of GYPB, where S has met29 and s has thr29. The U antigen refers to a short extracellular sequence in GYPB located near the membrane. GYPB, glycophorin A (GYPA; 617922), and glycophorin E (GYPE; 138590) are closely linked on chromosome 4q31. Antigens of the MN blood group (111300) reside on GYPA. The M and N antigens differ at amino acids 1 and 5 of GYPA, where M is ser-ser-thr-thr-gly, and N is leu-ser-thr-thr-glu. The N terminus of GYPB is essentially identical to that of GYPA except that it always expresses the N antigen, denoted 'N' or N-prime. Recombination and gene conversion between GYPA, GYPB, and GYPE lead to hybrid glycophorin molecules and generation of low-incidence antigens. Thus, the MN and Ss blood groups are together referred to as the MNSs blood group system (see 111300). Recombination results in 3 glycophorin-null phenotypes: En(a-) cells lack GYPA due to recombination between GYPA and GYPB; GYPB-negative (S-s-U-) cells lack GYPB due to recombination in GYPB; and M(k) cells (M-N-S-s-U-) lack both GYPA and GYPB due to recombination between GYPA and GYPE. Individuals with glycophorin-null phenotypes have decreased sialic acid content and increased resistance to malarial infection (see 611162). GYPA and GYPB are not essential for red-cell development or survival, and GYPA- and GYPB-null phenotypes are not associated with anemia or altered red-cell function (review by Cooling, 2015).|OMIM|N|
C4551877|Propionic acidemia is an autosomal recessive metabolic disorder caused by defective functioning in the mitochondrial enzyme propionyl CoA carboxylase (PCC), resulting in the accumulation of propionic acid metabolites, and dysfunction in the respiratory chain and urea cycle pathways. The disorder is clinically heterogeneous. A neonatal-onset form is characterized by poor feeding, vomiting, and fatigue in the first days of life in a previously healthy infant, and if untreated, may be followed by lethargy, seizures, coma, and death. The neonatal form is frequently accompanied by metabolic acidosis with anion gap, ketonuria, hypoglycemia, hyperammonemia, and cytopenia. A late-onset form in older children and adults has a milder phenotype, is less common, and may present with developmental regression, chronic vomiting, protein intolerance, failure to thrive, hypotonia, and occasionally basal ganglia infarction, which may result in dystonia and choreoathetosis, and cardiomyopathy. Metabolically unstable individuals can have an acute decompensation that resembles the neonatal presentation, often precipitated by a catabolic stress such as infection, injury, or surgery, or an excessive intake of intact (i.e., complete, dietary, or natural) protein. Long-term manifestations of neonatal and late onset of propionic acidemia can include growth impairment, intellectual disability, seizures, basal ganglia lesions, pancreatitis, and cardiomyopathy. Other less common manifestations include optic atrophy, hearing loss, premature ovarian insufficiency, and chronic renal failure (summary by Jurecki et al., 2019).|OMIM|N|
C4551882|A disorder characterized by a change in the sound and/or speed of the voice.|NCI|N|
C4551883|Stage IVB includes: Any T, Any N, MI. M1: Distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C4551884|Any central areolar choroidal dystrophy in which the cause of the disease is a mutation in the GUCY2D gene.|MONDO|N|
C4551893|Pregnancy-induced toxic reactions of the mother that can be as harmless as slight Maternal hypertension or as life threatening as Eclampsia.|HPO|N|
C4551895|Cryopyrin-associated periodic syndromes (CAPS) are a group of conditions that have overlapping signs and symptoms and the same genetic cause. The group includes three conditions known as familial cold autoinflammatory syndrome type 1 (FCAS1), Muckle-Wells syndrome (MWS), and neonatal-onset multisystem inflammatory disorder (NOMID). These conditions were once thought to be distinct disorders but are now considered to be part of the same condition spectrum. FCAS1 is the least severe form of CAPS, MWS is intermediate in severity, and NOMID is the most severe form.\n\nThe signs and symptoms of CAPS affect multiple body systems. Generally, CAPS are characterized by periodic episodes of skin rash, fever, and joint pain. These episodes can be triggered by exposure to cold temperatures, fatigue, other stressors, or they may arise spontaneously. Episodes can last from a few hours to several days. These episodes typically begin in infancy or early childhood and persist throughout life.\n\nWhile the CAPS spectrum shares similar signs and symptoms, the individual conditions tend to have distinct patterns of features. People with FCAS1 are particularly sensitive to the cold, and exposure to cold temperatures can trigger a painful or burning rash. The rash usually affects the torso and limbs but may spread to the rest of the body. In addition to fever and joint pain, other possible symptoms include muscle aches, chills, drowsiness, eye redness, headache, and nausea.\n\nIn people with NOMID, the signs and symptoms of the condition are usually present from birth and persists throughout life. In addition to skin rash and fever, affected individuals may have joint inflammation, swelling, and joint deformities called contractures that may restrict movement. People with NOMID typically have headaches, seizures, and cognitive impairment resulting from chronic meningitis, which is inflammation of the tissue that covers and protects the brain and spinal cord (meninges). Other features of NOMID include eye problems, short stature, distinctive facial features, and kidney damage caused by amyloidosis.\n\nIndividuals with MWS develop the typical periodic episodes of skin rash, fever, and joint pain after cold exposure, although episodes may occur spontaneously or all the time. Additionally, they can develop progressive hearing loss in their teenage years. Other features of MWS include skin lesions or kidney damage from abnormal deposits of a protein called amyloid (amyloidosis).|MedlinePlus Genetics|N|
C4551898|The phenotypic spectrum of ATP8B1 deficiency ranges from severe through moderate to mild. Severe ATP8B1 deficiency is characterized by infantile-onset cholestasis that progresses to cirrhosis, hepatic failure, and early death. Although mild-to-moderate ATP8B1 deficiency initially was thought to involve intermittent symptomatic cholestasis with a lack of hepatic fibrosis, it is now known that hepatic fibrosis may be present early in the disease course. Furthermore, in some persons with ATP8B1 deficiency the clinical findings can span the phenotypic spectrum, shifting over time from the mild end of the spectrum (episodic cholestasis) to the severe end of the spectrum (persistent cholestasis). Sensorineural hearing loss (SNHL) is common across the phenotypic spectrum.|GeneReviews|N|
C4551899|The phenotypic spectrum of ATP8B1 deficiency ranges from severe through moderate to mild. Severe ATP8B1 deficiency is characterized by infantile-onset cholestasis that progresses to cirrhosis, hepatic failure, and early death. Although mild-to-moderate ATP8B1 deficiency initially was thought to involve intermittent symptomatic cholestasis with a lack of hepatic fibrosis, it is now known that hepatic fibrosis may be present early in the disease course. Furthermore, in some persons with ATP8B1 deficiency the clinical findings can span the phenotypic spectrum, shifting over time from the mild end of the spectrum (episodic cholestasis) to the severe end of the spectrum (persistent cholestasis). Sensorineural hearing loss (SNHL) is common across the phenotypic spectrum.|GeneReviews|N|
C4551900|Fusion of two adjacent teeth.|HPO|N|
C4551902|Craniosynostosis is a primary abnormality of skull growth involving premature fusion of the cranial sutures such that the growth velocity of the skull often cannot match that of the developing brain. This produces skull deformity and, in some cases, raises intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability (summary by Fitzpatrick, 2013). Mutation in the TWIST1 has been found to cause coronal and sagittal forms of craniosynostosis.
Genetic Heterogeneity of Craniosynostosis
Craniosynostosis-2 (CRS2; 604757) is caused by mutation in the MSX2 gene (123101) on chromosome 5q35. Craniosynostosis-3 (CRS3; 615314) is caused by mutation in the TCF12 gene (600480) on chromosome 15q21. Craniosynostosis-4 (CRS4; 600775) is caused by mutation in the ERF gene (611888) on chromosome 19q13. Susceptibility to craniosynostosis-5 (CRS5; 615529) is conferred by variation in the ALX4 gene (605420) on chromosome 11p11. Craniosynostosis-6 (CRS6; 616602) is caused by mutation in the ZIC1 gene (600470) on chromosome 3q24. Susceptibility to craniosynostosis-7 (CRS7; 617439) is conferred by variation in the SMAD6 gene (602931) on chromosome 15q22.|OMIM|N|
C4551903|Total anomalous pulmonary venous return (TAPVR) is a cyanotic form of congenital heart defect in which the pulmonary veins fail to enter the left atrium and instead drain into the right atrium or one of the venous tributaries (summary by Bleyl et al., 1994).|OMIM|N|
C4551905|A developmental defect characterized by abnormal connection of one or more pulmonary veins to the superior or inferior vena cava, the right atrium, or the coronary sinus, resulting in a left-to-right shunt of oxygenated blood.|HPO|N|
C4551906|Primary ciliary dyskinesia is a genetically heterogeneous autosomal recessive disorder resulting from loss of function of different parts of the primary ciliary apparatus, most often dynein arms. Kartagener (pronounced KART-agayner) syndrome is characterized by the combination of primary ciliary dyskinesia and situs inversus (270100), and occurs in approximately half of patients with ciliary dyskinesia. Since normal nodal ciliary movement in the embryo is required for normal visceral asymmetry, absence of normal ciliary movement results in a lack of definitive patterning; thus, random chance alone appears to determine whether the viscera take up the normal or reversed left-right position during embryogenesis. This explains why approximately 50% of patients, even within the same family, have situs inversus (Afzelius, 1976; El Zein et al., 2003).
Genetic Heterogeneity of Primary Ciliary Dyskinesia
Other forms of primary ciliary dyskinesia include CILD2 (606763), caused by mutation in the DNAAF3 gene (614566) on 19q13; CILD3 (608644), caused by mutation in the DNAH5 gene (603335) on 5p15; CILD4 (608646), mapped to 15q13; CILD5 (608647), caused by mutation in the HYDIN gene (610812) on 16q22; CILD6 (610852), caused by mutation in the TXNDC3 gene (607421) on 7p14; CILD7 (611884), caused by mutation in the DNAH11 gene (603339) on 7p15; CILD8 (612274), mapped to 15q24-q25; CILD9 (612444), caused by mutation in the DNAI2 gene (605483) on 17q25; CILD10 (612518), caused by mutation in the DNAAF2 gene (612517) on 14q21; CILD11 (612649), caused by mutation in the RSPH4A gene (612647) on 6q22; CILD12 (612650), caused by mutation in the RSPH9 gene (612648) on 6p21; CILD13 (613193), caused by mutation in the DNAAF1 gene (613190) on 16q24; CILD14 (613807), caused by mutation in the CCDC39 gene (613798) gene on 3q26; CILD15 (613808), caused by mutation in the CCDC40 gene (613799) on 17q25; CILD16 (614017), caused by mutation in the DNAL1 gene (610062) on 14q24; CILD17 (614679), caused by mutation in the CCDC103 gene (614677) on 17q21; CILD18 (614874), caused by mutation in the DNAAF5 gene (614864) on 7p22; CILD19 (614935), caused by mutation in the LRRC6 gene (614930) on 8q24; CILD20 (615067), caused by mutation in the CCDC114 gene (615038) on 19q13; CILD21 (615294), caused by mutation in the DRC1 gene (615288) on 2p23; CILD22 (615444), caused by mutation in the ZMYND10 gene (607070) on 3p21; CILD23 (615451), caused by mutation in the ARMC4 gene (615408) on 10p; CILD24 (615481), caused by mutation in the RSPH1 gene (609314) on 21q22; CILD25 (615482), caused by mutation in the DYX1C1 gene (608706) on 15q21; CILD26 (615500), caused by mutation in the C21ORF59 gene (615494) on 21q22; CILD27 (615504), caused by mutation in the CCDC65 gene (611088) on 12q13; CILD28 (615505), caused by mutation in the SPAG1 gene (603395) on 8q22; CILD29 (615872), caused by mutation in the CCNO gene (607752) on 5q11; CILD30 (616037), caused by mutation in the CCDC151 gene (615956) on 19p13; CILD32 (616481), caused by mutation in the RSPH3 gene (615876) on 6q25; CILD33 (616726), caused by mutation in the GAS8 gene (605178) on 16q24; CILD34 (617091), caused by mutation in the DNAJB13 gene (610263) on 11q13; CILD35 (617092), caused by mutation in the TTC25 gene (617095) on 17q21; CILD36 (300991), caused by mutation in the PIH1D3 gene (300933) on Xq22; CILD37 (617577), caused by mutation in the DNAH1 gene (603332) on 3p21; CILD38 (618063), caused by mutation in the CFAP300 gene (618058) on 11q22; CILD39 (618254), caused by mutation in the LRRC56 gene (618227) on 11p15; CILD40 (618300), caused by mutation in the DNAH9 gene (603330) on 17p12; CILD41 (618449), caused by mutation in the GAS2L2 gene (611398) on 17q12; CILD42 (618695), caused by mutation in the MCIDAS gene (614086) on 5q11; CILD43 (618699), caused by mutation in the FOXJ1 gene (602291) on 17q25; CILD44 (618781), caused by mutation in the NEK10 gene (618726) on 3p24; CILD45 (618801), caused by mutation in the TTC12 gene (610732) on 11q23; CILD46 (619436), caused by mutation in the STK36 gene (607652) on 2q35; CILD47 (619466), caused by mutation in the TP73 gene (601990) on 1p36; CILD48 (620032), caused by mutation in the NME5 gene (603575) on chromosome 5q31; CILD49 (620197), caused by mutation in the CFAP74 gene (620187) on chromosome 1p36; CILD50 (620356), caused by mutation in the DNAH7 gene (610061) on chromosome 2q32; CILD51 (620438), caused by mutation in the BRWD1 gene (617824) on chromosome 21q22; CILD52 (620570), caused by mutation in the DAW1 gene (620279) on chromosome 2q36; and CILD53 (620642), caused by mutation in the CLXN gene (619564) on chromosome 8q11.
Ciliary abnormalities have also been reported in association with both X-linked and autosomal forms of retinitis pigmentosa. Mutations in the RPGR gene (312610), which underlie X-linked retinitis pigmentosa (RP3; 300029), are in some instances (e.g., 312610.0016) associated with recurrent respiratory infections indistinguishable from immotile cilia syndrome; see 300455.
Afzelius (1979) gave an extensive review of cilia and their disorders. There are also several possibly distinct CILDs described based on the electron microscopic appearance of abnormal cilia, including CILD with transposition of the microtubules (215520), CILD with excessively long cilia (242680), and CILD with defective radial spokes (242670).|OMIM|N|
C4551910|An inflammatory neuropathy belonging to the clinical spectrum of Guillain-Barré syndrome. The clinical course is divided into three phases. The first phase (lasting a few weeks) has characteristics of rapidly progressive muscle weakness. It is symmetrical and may cause acute neuromuscular paralysis. Sensory disturbances, intense pains, and cramps may also occur. During the second phase (variable duration), symptoms become stable but other manifestations (cardiac arrhythmias, hyper/hypotension and gastric dysmotility) may occur. During the third (recovery) phase, lasting a few months or longer, symptoms slowly regress. Many patients have residual findings (weakness, sensory disturbances, fatigue or pain) for many months or even years. In the majority of cases, an infectious disease precedes the onset of limb weakness, with Campylobacter jejuni infection being the most frequent initiating event.|SNOMEDCT_US|N|
C4551915|A disorder characterized by walking difficulties.|NCI|N|
C4551916|A disorder characterized by excessive levels of thyroid hormone in the body. Common causes include an overactive thyroid gland or thyroid hormone overdose.|NCI|N|
C4551918|A finding of cutaneous inflammatory reaction occurring as a result of exposure to biologically effective levels of ionizing radiation.|NCI|N|
C4551919|A finding of leakage of urine due to breakdown of a kidney anastomosis (surgical connection of two separate anatomic structures).|NCI|N|
C4551920|A disorder characterized by a reduction in the strength of the muscles of the pelvic floor.|NCI|N|
C4551921|A finding of protrusion of the intestinal stoma (surgically created opening on the surface of the body) above the abdominal surface.|NCI|N|
C4551922|A disorder characterized by an infectious process involving the bones.|NCI|N|
C4551923|A disorder characterized by an intense adverse reaction (usually immunologic) developing at the site of an injection.|NCI|N|
C4551924|A disorder characterized by swelling due to excessive fluid accumulation in the upper or lower extremities.|NCI|N|
C4551925|A disorder characterized by a circumscribed, erosive lesion on the skin.|NCI|N|
C4551926|A disorder characterized by reduced sweating.|NCI|N|
C4551927|A disorder characterized by an inflammation involving the larynx.|NCI|N|
C4551928|A disorder characterized by intense painful sensation along a nerve or group of nerves.|NCI|N|
C4551929|A finding based on pulmonary function test results that indicate an abnormal vital capacity (amount of exhaled after a maximum inhalation) when compared to the predicted value.|NCI|N|
C4551931|A disorder characterized by an infectious process involving the spleen.|NCI|N|
C4551932|A disorder characterized by an infectious process involving the middle ear.|NCI|N|
C4551933|A finding of displacement of the urostomy.|NCI|N|
C4551934|A finding of narrowing of the gastrointestinal stoma (surgically created opening on the surface of the body).|NCI|N|
C4551935|A disorder characterized by a rupture in the jejunal wall.|NCI|N|
C4551936|A disorder characterized by a narrowing of the lumen of the anal canal.|NCI|N|
C4551937|A disorder characterized by the loss of lymph fluid into the surrounding tissue or body cavity.|NCI|N|
C4551938|A disorder characterized by a sensation of marked discomfort in a joint.|NCI|N|
C4551939|A disorder characterized by an inability to rest, relax or be still.|NCI|N|
C4551940|A finding of leakage due to breakdown of a gastrointestinal anastomosis (surgical connection of two separate anatomic structures).|NCI|N|
C4551941|A disorder characterized by an individual seeing spots before their eyes. The spots are shadows of opaque cell fragments in the vitreous humor or lens.|NCI|N|
C4551944|A disorder characterized by a circumscribed, erosive lesion on the mucosal surface of the duodenal wall.|NCI|N|
C4551950|Van Maldergem syndrome is an autosomal recessive disorder characterized by intellectual disability, typical craniofacial features, auditory malformations resulting in hearing loss, and skeletal and limb malformations. Some patients have renal hypoplasia. Brain MRI typically shows periventricular nodular heterotopia (summary by Cappello et al., 2013).
Genetic Heterogeneity of Van Maldergem Syndrome
See also VMLDS2 (615546), caused by mutation in the FAT4 gene (612411) on chromosome 4q28.|OMIM|N|
C4551951|Inclusion body myopathy associated with Paget disease of bone (PDB) and/or frontotemporal dementia (IBMPFD) is characterized by adult-onset proximal and distal muscle weakness (clinically resembling a limb-girdle muscular dystrophy syndrome), early-onset PDB, and premature frontotemporal dementia (FTD). Muscle weakness progresses to involve other limb and respiratory muscles. PDB involves focal areas of increased bone turnover that typically lead to spine and/or hip pain and localized enlargement and deformity of the long bones; pathologic fractures occur on occasion. Early stages of FTD are characterized by dysnomia, dyscalculia, comprehension deficits, and paraphasic errors, with minimal impairment of episodic memory; later stages are characterized by inability to speak, auditory comprehension deficits for even one-step commands, alexia, and agraphia. Mean age at diagnosis for muscle disease and PDB is 42 years; for FTD, 56 years. Dilated cardiomyopathy, amyotrophic lateral sclerosis, and Parkinson disease are now known to be part of the spectrum of findings associated with IBMPFD.|GeneReviews|N|
C4551952|Centronuclear myopathy-1 (CNM1) is an autosomal dominant congenital myopathy characterized by slowly progressive muscular weakness and wasting. The disorder involves mainly limb girdle, trunk, and neck muscles but may also affect distal muscles. Weakness may be present during childhood or adolescence or may not become evident until the third decade of life, and some affected individuals become wheelchair-bound in their fifties. Ptosis and limitation of eye movements occur frequently. The most prominent histopathologic features include high frequency of centrally located nuclei in a large number of extrafusal muscle fibers (which is the basis of the name of the disorder), radial arrangement of sarcoplasmic strands around the central nuclei, and predominance and hypotrophy of type 1 fibers (summary by Bitoun et al., 2005).
Genetic Heterogeneity of Centronuclear Myopathy
Centronuclear myopathy is a genetically heterogeneous disorder. See also X-linked CNM (CNMX; 310400), caused by mutation in the MTM1 gene (300415) on chromosome Xq28; CNM2 (255200), caused by mutation in the BIN1 gene (601248) on chromosome 2q14; CNM4 (614807), caused by mutation in the CCDC78 gene (614666) on chromosome 16p13; CNM5 (615959), caused by mutation in the SPEG gene (615950) on chromosome 2q35; and CNM6 (617760), caused by mutation in the ZAK gene (609479) on chromosome 2q31.
The mutation in the MYF6 gene that was reported to cause a form of CNM, formerly designated CNM3, has been reclassified as a variant of unknown significance; see 159991.0001.
Some patients with mutation in the RYR1 gene (180901) have findings of centronuclear myopathy on skeletal muscle biopsy (see 255320).|OMIM|N|
C4551953|Macular dystrophies are inherited retinal dystrophies in which various forms of deposits, pigmentary changes, and atrophic lesions are observed in the macula lutea, the cone-rich region of the central retina. Vitelliform macular dystrophies (VMDs) form a subset of macular dystrophies characterized by round yellow deposits, usually at the center of the macula and containing lipofuscin, a chemically heterogeneous pigment visualized by autofluorescence imaging of the fundus (summary by Manes et al., 2013). In contrast to typical VMD (see 153700), patients with atypical VMD may exhibit normal electrooculography, even when severe loss of vision is present, and fluorescein angiography is thus the most reliable test for identifying affected individuals (Hittner et al., 1984).
Genetic Heterogeneity of Vitelliform Macular Dystrophy
See also vitelliform macular dystrophy-2 (VMD2; 153700), caused by mutation in the BEST1 gene (607854) on chromosome 11q12; VMD3 (608161), caused by mutation in the PRPH2 gene (179605) on chromosome 6p21; VMD4 (616151), caused by mutation in the IMPG1 gene (602870) on chromosome 6q14; and VMD5 (616152), caused by mutation in the IMPG2 gene (607056) on chromosome 3q12.|OMIM|N|
C4551954|Hyperekplexia is an early-onset neurologic disorder characterized by an exaggerated startle response to sudden, unexpected auditory or tactile stimuli. Affected individuals have brief episodes of intense, generalized hypertonia in response to stimulation. Neonates may have prolonged periods of rigidity and are at risk for sudden death from apnea or aspiration. Many affected infants have inguinal hernias. The symptoms tend to resolve after infancy, but adults may have increased startle-induced falls and/or experience nocturnal muscle jerks (summary by Ryan et al., 1992).
Genetic Heterogeneity of Hyperekplexia
See also HKPX2 (614619), caused by mutation in the GLRB gene (138492) on chromosome 4q31; HKPX3 (614618), caused by mutation in the GLYT2 gene (SLC6A5; 604159) on chromosome 11p15; and HKPX4 (618011), caused by mutation in the ATAD1 gene (614452) on chromosome 10q23.
Hyperekplexia can also occur in developmental and epileptic encephalopathy-8 (DEE8; 300607), caused by mutation in the ARHGEF9 gene (300429).
See also sporadic stiff-man syndrome (184850) and the 'Jumping Frenchmen of Maine' (244100).|OMIM|N|
C4551955|Loeys-Dietz syndrome (LDS) is characterized by vascular findings (cerebral, thoracic, and abdominal arterial aneurysms and/or dissections), skeletal manifestations (pectus excavatum or pectus carinatum, scoliosis, joint laxity, arachnodactyly, talipes equinovarus, cervical spine malformation and/or instability), craniofacial features (widely spaced eyes, strabismus, bifid uvula / cleft palate, and craniosynostosis that can involve any sutures), and cutaneous findings (velvety and translucent skin, easy bruising, and dystrophic scars). Individuals with LDS are predisposed to widespread and aggressive arterial aneurysms and pregnancy-related complications including uterine rupture and death. Individuals with LDS can show a strong predisposition for allergic/inflammatory disease including asthma, eczema, and reactions to food or environmental allergens. There is also an increased incidence of gastrointestinal inflammation including eosinophilic esophagitis and gastritis or inflammatory bowel disease. Wide variation in the distribution and severity of clinical features can be seen in individuals with LDS, even among affected individuals within a family who have the same pathogenic variant.|GeneReviews|N|
C4551956|Decreased ratio between the upper and the lower segment of the body, where the lower segment is defined as the length between the top of pubic symphysis to floor, and the upper segment is defined as the top of head to top of pubic symphysis. Consider the term Disproportionate tall stature (HP:0001519) if tall stature is also present.|HPO|N|
C4551957|Autosomal dominant epilepsy with auditory features (ADEAF) is a focal epilepsy syndrome with auditory symptoms and/or receptive aphasia as prominent ictal manifestations. The most common auditory symptoms are simple unformed sounds including humming, buzzing, or ringing; less common forms are distortions (e.g., volume changes) or complex sounds (e.g., specific songs or voices). Ictal receptive aphasia consists of a sudden onset of inability to understand language in the absence of general confusion. Less commonly, other ictal symptoms may occur, including sensory symptoms (visual, olfactory, vertiginous, or cephalic) or motor, psychic, and autonomic symptoms. Most affected individuals have focal to bilateral tonic-clonic seizures, usually accompanied by "focal aware" and "focal impaired-awareness" seizures, with auditory symptoms as a major focal aware seizure manifestation. Some persons have seizures precipitated by sounds such as a ringing telephone. Age at onset is usually in adolescence or early adulthood (range: age 4-50 years). The clinical course of ADEAF is benign. Seizures are usually well controlled after initiation of medical therapy.|GeneReviews|N|
C4551958|Myopathy, lactic acidosis, and sideroblastic anemia (MLASA) is a rare autosomal recessive oxidative phosphorylation disorder specific to skeletal muscle and bone marrow (Bykhovskaya et al., 2004).
Genetic Heterogeneity of Myopathy, Lactic Acidosis, and Sideroblastic Anemia 
MLASA2 (613561) is caused by mutation in the YARS2 gene (610957) on chromosome 12p11. MLASA3 (500011) is caused by heteroplasmic mutation in the mitochondrially-encoded MTATP6 gene (516060).|OMIM|N|
C4551959|Atrial standstill (AS) is a rare condition characterized by the absence of electrical and mechanical activity in the atria. On surface ECG, AS is distinguished by bradycardia, junctional (usually narrow complex) escape rhythm, and absence of the P wave. Nearly 50% of patients with AS experience syncope. AS can be persistent or transient, and diffuse or partial (summary by Fazelifar et al., 2005).|OMIM|N|
C4551960|Y chromosome infertility is characterized by azoospermia (absence of sperm), severe oligozoospermia (<1 x 106 sperm/mL semen), moderate oligozoospermia (1-5 x 106 sperm/mL semen), or mild oligozoospermia (5-20 x 106 sperm/mL semen). Males with Y chromosome infertility usually have no obvious symptoms, although physical examination may reveal small testes.|GeneReviews|N|
C4551961|A rare hereditary familial primary hyperparathyroidism disease with characteristics of primary hyperparathyroidism due to single or multiple parathyroid tumours in at least two first-degree relatives in the absence of evidence of other endocrine disorders, tumours and/or systemic manifestations.|SNOMEDCT_US|N|
C4551962|Any familial acne inversa in which the cause of the disease is a mutation in the NCSTN gene.|MONDO|N|
C4551963|Bulimia nervosa (BN) is a psychiatric disorder characterized by episodes of binge-eating (eating an unusually large amount of food in a discrete period of time and feeling out of control), compensatory behavior (e.g., self-induced vomiting or laxative abuse), and over-concern with weight and shape.
Eating disorders such as bulimia nervosa are complex disorders that can be influenced by many genes.|OMIM|N|
C4551964|HGPPS is an autosomal recessive neurologic disorder characterized by eye movement abnormalities apparent from birth and childhood-onset progressive scoliosis. These features are associated with a developmental malformation of the brainstem including hypoplasia of the pons and cerebellar peduncles and defective decussation of certain neuronal systems. Cognitive function is normal (summary by Bosley et al., 2005).
Genetic Heterogeneity of Familial Horizontal Gaze Palsy With Progressive Scoliosis
See also HGPPS2 (617542), caused by mutation in the DCC gene (120470) on chromosome 18q21.|OMIM|N|
C4551965|The cartilage-hair hypoplasia – anauxetic dysplasia (CHH-AD) spectrum disorders are a continuum that includes the following phenotypes: Metaphyseal dysplasia without hypotrichosis (MDWH). Cartilage-hair hypoplasia (CHH). Anauxetic dysplasia (AD). CHH-AD spectrum disorders are characterized by severe disproportionate (short-limb) short stature that is usually recognized in the newborn, and occasionally prenatally because of the short extremities. Other findings include joint hypermobility, fine silky hair, immunodeficiency, anemia, increased risk for malignancy, gastrointestinal dysfunction, and impaired spermatogenesis. The most severe phenotype, AD, has the most pronounced skeletal phenotype, may be associated with atlantoaxial subluxation in the newborn, and may include cognitive deficiency. The clinical manifestations of the CHH-AD spectrum disorders are variable, even within the same family.|GeneReviews|N|
C4551966|The phenotypic spectrum of glucose transporter type 1 deficiency syndrome (Glut1 DS) is now known to be a continuum that includes the classic phenotype as well as paroxysmal exercise-induced dyskinesia and epilepsy (previously known as dystonia 18 [DYT18]) and paroxysmal choreoathetosis with spasticity (previously known as dystonia 9 [DYT9]), atypical childhood absence epilepsy, myoclonic astatic epilepsy, and paroxysmal non-epileptic findings including intermittent ataxia, choreoathetosis, dystonia, and alternating hemiplegia. The classic phenotype is characterized by infantile-onset seizures, delayed neurologic development, acquired microcephaly, and complex movement disorders. Seizures in classic early-onset Glut1 DS begin before age six months. Several seizure types occur: generalized tonic or clonic, focal, myoclonic, atypical absence, atonic, and unclassified. In some infants, apneic episodes and abnormal episodic eye-head movements similar to opsoclonus may precede the onset of seizures. The frequency, severity, and type of seizures vary among affected individuals and are not related to disease severity. Cognitive impairment, ranging from learning disabilities to severe intellectual disability, is typical. The complex movement disorder, characterized by ataxia, dystonia, and chorea, may occur in any combination and may be continuous, paroxysmal, or continual with fluctuations in severity influenced by environmental factors such as fasting or with infectious stress. Symptoms often improve substantially when a ketogenic diet is started.|GeneReviews|N|
C4551967|B-cell expansion with NFKB and T-cell anergy is an autosomal dominant disorder characterized by onset in infancy of splenomegaly and polyclonal expansion of B cells, resulting in peripheral lymphocytosis. Affected individuals also show mild immune dysfunction, including some defective antibody responses and T-cell anergy. There may be a predisposition to the development of B-cell malignancy (summary by Snow et al., 2012).|OMIM|N|
C4551968|DCX-related disorders include the neuronal migration disorders: Classic thick lissencephaly (more severe anteriorly), usually in males. Subcortical band heterotopia (SBH), primarily in females. Males with classic DCX-related lissencephaly typically have early and profound cognitive and language impairment, cerebral palsy, and epileptic seizures. The clinical phenotype in females with SBH varies widely with cognitive abilities that range from average or mild cognitive impairment to severe intellectual disability and language impairment. Seizures, which frequently are refractory to anti-seizure medication, may be either focal or generalized and behavioral problems may also be observed. In DCX-related lissencephaly and SBH the severity of the clinical manifestation correlates roughly with the degree of the underlying brain malformation as observed in cerebral imaging.|GeneReviews|N|
C4551970|Sclerosis (increased density) affecting vertebral end plates.|HPO|N|
C4551972|Mosaic variegated aneuploidy (MVA) is an autosomal recessive disorder characterized by mosaic aneuploidies, predominantly trisomies and monosomies, involving multiple different chromosomes and tissues. The proportion of aneuploid cells varies but is usually more than 25% and is substantially greater than in normal individuals. Affected individuals typically present with severe intrauterine growth retardation and microcephaly. Eye anomalies, mild dysmorphism, variable developmental delay, and a broad spectrum of additional congenital abnormalities and medical conditions may also occur. The risk of malignancy is high, with rhabdomyosarcoma, Wilms tumor, and leukemia reported in several cases (summary by Hanks et al., 2004).
Genetic Heterogeneity of Mosaic Variegated Aneuploidy Syndrome
See also MVA2 (614114), caused by mutation in the CEP57 gene (607951) on chromosome 11q21; MVA3 (617598), caused by mutation in the TRIP13 gene (604507) on chromosome 5p15; MVA4 (620153), caused by mutation in the CENATAC gene (620142) on chromosome 11q23; MVA5 (620184), caused by mutation in the SLF2 gene (610348) on chromosome 10q24; and MVA6 (620185), caused by mutation in the SMC5 gene (609386) on chromosome 9q21.|OMIM|N|
C4551973|Dysferlinopathy includes a spectrum of muscle disease characterized by two major phenotypes: Miyoshi muscular dystrophy (MMD) and limb-girdle muscular dystrophy type 2B (LGMD2B); and two minor phenotypes: asymptomatic hyperCKemia and distal myopathy with anterior tibial onset (DMAT). MMD (median age of onset 19 years) is characterized by muscle weakness and atrophy, most marked in the distal parts of the legs, especially the gastrocnemius and soleus muscles. Over a period of years, the weakness and atrophy spread to the thighs and gluteal muscles. The forearms may become mildly atrophic with decrease in grip strength; the small muscles of the hands are spared. LGMD2B is characterized by early weakness and atrophy of the pelvic and shoulder girdle muscles in adolescence or young adulthood, with slow progression. Other phenotypes in this spectrum are scapuloperoneal syndrome and congenital muscular dystrophy. Asymptomatic hyperCKemia is characterized by marked elevation of serum CK concentration only. DMAT is characterized by early and predominant distal muscle weakness, particularly of the muscles of the anterior compartment of the legs.|GeneReviews|N|
C4551974|Dyskeratosis congenita and related telomere biology disorders (DC/TBD) are caused by impaired telomere maintenance resulting in short or very short telomeres. The phenotypic spectrum of telomere biology disorders is broad and includes individuals with classic dyskeratosis congenita (DC) as well as those with very short telomeres and an isolated physical finding. Classic DC is characterized by a triad of dysplastic nails, lacy reticular pigmentation of the upper chest and/or neck, and oral leukoplakia, although this may not be present in all individuals. People with DC/TBD are at increased risk for progressive bone marrow failure (BMF), myelodysplastic syndrome or acute myelogenous leukemia, solid tumors (usually squamous cell carcinoma of the head/neck or anogenital cancer), and pulmonary fibrosis. Other findings can include eye abnormalities (epiphora, blepharitis, sparse eyelashes, ectropion, entropion, trichiasis), taurodontism, liver disease, gastrointestinal telangiectasias, and avascular necrosis of the hips or shoulders. Although most persons with DC/TBD have normal psychomotor development and normal neurologic function, significant developmental delay is present in both forms; additional findings include cerebellar hypoplasia (Hoyeraal Hreidarsson syndrome) and bilateral exudative retinopathy and intracranial calcifications (Revesz syndrome and Coats plus syndrome). Onset and progression of manifestations of DC/TBD vary: at the mild end of the spectrum are those who have only minimal physical findings with normal bone marrow function, and at the severe end are those who have the diagnostic triad and early-onset BMF.|GeneReviews|N|
C4551975|Radioulnar synostosis with amegakaryocytic thrombocytopenia (RUSAT) is characterized by thrombocytopenia that progresses to pancytopenia, in association with congenital proximal fusion of the radius and ulna that results in extremely limited pronation and supination of the forearm (summary by Niihori et al., 2015).
Genetic Heterogeneity of Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia
Radioulnar synostosis with amegakaryocytic thrombocytopenia-2 (RUSAT2; 616738) is caused by heterozygous mutation in the MECOM gene (165215) on chromosome 3q26.|OMIM|N|
C4551976|Hereditary hypotrichosis simplex (HHS) is a rare form of nonsyndromic hereditary hypotrichosis without characteristic hair shaft anomalies. Affected individuals typically show normal hair at birth, but hair loss and thinning of the hair shaft start during early childhood and progress with age. HHS can be largely divided into 2 forms: the scalp-limited form (e.g., 146520) and the generalized form, such as HYPT1, in which all body hair is affected. HHS is characterized by progressive hair follicle miniaturization, which is a typical feature of androgenetic alopecia (see 109200). HHS can be inherited either as an autosomal dominant or autosomal recessive trait (e.g., HYPT8, 278150) (summary by Shimomura et al., 2010).
Genetic Heterogeneity of Nonsyndromic Hypotrichosis
See also HYPT2 (146520), caused by mutation in the CDSN gene (602593) on chromosome 6p21; HYPT3 (613981), caused by mutation in the KRT74 gene (608248) on chromosome 12q13; HYPT4 (146550), caused by mutation in the HRURF gene (619257) on chromosome 8p21; HYPT5 (612841), caused by mutation in the EPS8L3 gene (614989) on chromosome 1p13; HYPT6 (607903), caused by mutation in the DSG4 gene (607892) on chromosome 18q12; HYPT7 (604379), caused by mutation in the LIPH gene (607365) on chromosome 3q27; HYPT8 (278150), caused by mutation in the LPAR6 gene (609239) on chromosome 13q14; HYPT9 (614237), mapped to chromosome 10q11.23-q22.3; HYPT10 (614238), mapped to chromosome 7p22.3-p21.3; HYPT11 (615059), caused by mutation in the SNRPE gene (128260) on chromosome 1q32; HYPT12 (615885), caused by mutation in the RPL21 gene (603636) on chromosome 13q12; HYPT13 (615896), caused by mutation in the KRT71 gene (608245) on chromosome 12q13; HYPT14 (618275), caused by mutation in the LSS gene (600909) on chromosome 21q22; and HYPT15 (620177), caused by mutation in the C3ORF52 gene (611956) on chromosome 3q13.|OMIM|N|
C4551978|Underdevelopment of both forearm bones, the ulna and the radius, resulting in a shortened forearm.|HPO|N|
C4551980|Heimler syndrome-1 (HMLR1), which represents the mildest end of the peroxisomal biogenesis disorder spectrum (see PBD1A, 214100), is a rare autosomal recessive disorder characterized by sensorineural hearing loss, enamel hyoplasia of the secondary dentition, and nail abnormalities (Ratbi et al., 2015).
Genetic Heterogeneity of Heimler Syndrome
Another form of Heimler syndrome (HMLR2; 616617) is caused by mutation in the PEX6 gene (601498) on chromosome 6p21.|OMIM|N|
C4551981|Combined deficiency of factor V and factor VIII (F5F8D1) is characterized by bleeding symptoms similar to those in hemophilia (306700) or parahemophilia (227400), caused by single deficiency of factor V (612309) or factor VIII (300840), respectively. The most common symptoms are epistaxis, menorrhagia, and excessive bleeding during or after trauma. Plasma FV and FVIII antigen and activity levels are in the range of 5 to 30%. Inheritance of F5F8D is autosomal recessive and distinct from the coinheritance of FV deficiency and FVIII deficiency (summary by Zhang and Ginsburg, 2004).
Genetic Heterogeneity of Combined Deficiency of Factor V and Factor VIII
Another form of combined deficiency of factor V and factor VIII (F5F8D2; 613625) is caused by mutation in the MCFD2 gene (607788) on chromosome 2p21.|OMIM|N|
C4551982|Trichohepatoenteric syndrome (THES), generally considered to be a neonatal enteropathy, is characterized by intractable diarrhea (seen in almost all affected children), woolly hair (seen in all), intrauterine growth restriction, facial dysmorphism, and short stature. Additional findings include poorly characterized immunodeficiency, recurrent infections, skin abnormalities, and liver disease. Mild intellectual disability (ID) is seen in about 50% of affected individuals. Less common findings include congenital heart defects and platelet anomalies. To date 52 affected individuals have been reported.|GeneReviews|N|
C4551983|DEPDC5-related epilepsy encompasses a range of epilepsy syndromes, almost all of which are characterized by focal seizures, with seizure onset in a discrete area of the brain. While most individuals with DEPDC5-related epilepsy have a normal brain MRI, some have epilepsy associated with a cortical malformation, usually focal cortical dysplasia. Seizure syndromes include familial focal epilepsy with variable foci (FFEVF), autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE), familial mesial temporal lobe epilepsies (FMTLE), autosomal dominant epilepsy with auditory features (ADEAF), and infantile spasms. Although psychomotor development is usually normal, intellectual disability or autism spectrum disorder has been reported in some individuals.|GeneReviews|N|
C4551984|Arthrogryposis, renal dysfunction, and cholestasis-1 (ARCS1) is characterized by congenital joint contractures, renal tubular dysfunction, cholestasis with low GGT (612346) activity, severe failure to thrive, ichthyosis, and a defect in platelet alpha-granule biogenesis. Most patients with ARC do not survive past the first year of life (Gissen et al., 2006; Smith et al., 2012).
Another form of arthrogryposis, renal dysfunction, and cholestasis, ARCS2 (613404), is caused by mutation in the VIPAR gene on chromosome 14q24 (613401).|OMIM|N|
C4551985|Generalized arterial calcification of infancy (GACI) is characterized by infantile onset of widespread arterial calcification and/or narrowing of large and medium-sized vessels resulting in cardiovascular findings (which can include heart failure, respiratory distress, edema, cyanosis, hypertension, and/or cardiomegaly). Additional findings can include typical skin and retinal manifestations of pseudoxanthoma elasticum (PXE), periarticular calcifications, development of rickets after infancy, cervical spine fusion, and hearing loss. While mortality in infancy is high, survival into the third and fourth decades has occurred.|GeneReviews|N|
C4551988|The blepharocheilodontic syndrome is a rare autosomal dominant disorder characterized by lower eyelid ectropion, upper eyelid distichiasis, euryblepharon, bilateral cleft lip and palate, and conical teeth. An additional rare manifestation is imperforate anus (summary by Weaver et al., 2010).|OMIM|N|
C4551989|A rare condition with features of congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia. The expression of the phenotype is highly variable and ranges from bilateral aplasia of tibiae and split-hand/split-foot deformity (tetramonodactyly or transverse hemimelia) to the mildest visible manifestation, hypoplastic big toes. Additional malformations may include distal hypoplasia or bifurcation of femora, hypo or aplasia of ulnae, and minor anomalies such as aplasia of patellae, postaxial and intermediate polydactyly in association with split-hand deformity, and cup-shaped ears. The syndrome is generally inherited in an autosomal dominant manner with reduced penetrance.|SNOMEDCT_US|N|
C4551990|Individuals with biallelic APOB-related familial hypobetalipoproteinemia (APOB-FHBL) may present from infancy through to adulthood with a range of clinical symptoms including deficiency of fat-soluble vitamins and gastrointestinal and neurologic dysfunction. Affected individuals typically have plasma total cholesterol, LDL cholesterol, and apo B levels below the fifth centile for age and sex. Acanthocytosis, elevated liver enzymes, and hyperbilirubinemia may also be found. The most common clinical findings are hepatomegaly, steatorrhea, and failure to thrive / growth deficiency. In the absence of treatment, affected individuals can develop atypical pigmentation of the retina; progressive loss of deep tendon reflexes, vibratory sense, and proprioception; muscle pain or weakness; dysarthria; ataxia; tremors; and steatohepatitis, fibrosis, and rarely, cirrhosis of the liver. Individuals with a heterozygous, typically truncating pathogenic variant in APOB are usually asymptomatic with mild liver dysfunction and hepatic steatosis. However, about 5%-10% of individuals with heterozygous APOB-FHBL develop relatively more severe nonalcoholic steatohepatitis requiring medical attention and occasionally progressing to cirrhosis, albeit very rarely.|GeneReviews|N|
C4551993|An instance of amyotrophic lateral sclerosis that is caused by an inherited modification of the individual's genome.|MONDO|N|
C4551995|Mitochondrial neurogastrointestinal encephalopathy (MNGIE) disease is characterized by progressive gastrointestinal dysmotility (manifesting as early satiety, nausea, dysphagia, gastroesophageal reflux, postprandial emesis, episodic abdominal pain and/or distention, and diarrhea); cachexia; ptosis/ophthalmoplegia or ophthalmoparesis; leukoencephalopathy; and demyelinating peripheral neuropathy (manifesting as paresthesias (tingling, numbness, and pain) and symmetric and distal weakness more prominently affecting the lower extremities). The order in which manifestations appear is unpredictable. Onset is usually between the first and fifth decades; in about 60% of individuals, symptoms begin before age 20 years.|GeneReviews|N|
C4551996|Abnormalities of the mandible are another characteristic feature of auriculo-condylar syndrome. These abnormalities often include an unusually small chin (micrognathia) and malfunction of the temporomandibular joint (TMJ), which connects the lower jaw to the skull. Problems with the TMJ affect how the upper and lower jaws fit together and can make it difficult to open and close the mouth. The term "condylar" in the name of the condition refers to the mandibular condyle, which is the upper portion of the mandible that forms part of the TMJ.\n\nMost people with auriculo-condylar syndrome have malformed outer ears ("auriculo-" refers to the ears). A hallmark of this condition is an ear abnormality called a "question-mark ear," in which the ears have a distinctive question-mark shape caused by a split that separates the upper part of the ear from the earlobe. Other ear abnormalities that can occur in auriculo-condylar syndrome include cupped ears, ears with fewer folds and grooves than usual (described as "simple"), narrow ear canals, small skin tags in front of or behind the ears, and ears that are rotated backward. Some affected individuals also have hearing loss.\n\nOther features of auriculo-condylar syndrome can include prominent cheeks, an unusually small mouth (microstomia), differences in the size and shape of facial structures between the right and left sides of the face (facial asymmetry), and an opening in the roof of the mouth (cleft palate). These features vary, even among affected members of the same family.\n\nAuriculo-condylar syndrome is a condition that affects facial development, particularly development of the ears and lower jaw (mandible).|MedlinePlus Genetics|N|
C4551997|Horizontal nystagmus dating from or present at birth.|HPO|N|
C4551998|The spectrum of COL4A1-related disorders includes: small-vessel brain disease of varying severity including porencephaly, variably associated with eye defects (retinal arterial tortuosity, Axenfeld-Rieger anomaly, cataract) and systemic findings (kidney involvement, muscle cramps, cerebral aneurysms, Raynaud phenomenon, cardiac arrhythmia, and hemolytic anemia). On imaging studies, small-vessel brain disease is manifest as diffuse periventricular leukoencephalopathy, lacunar infarcts, microhemorrhage, dilated perivascular spaces, and deep intracerebral hemorrhages. Clinically, small-vessel brain disease manifests as infantile hemiparesis, seizures, single or recurrent hemorrhagic stroke, ischemic stroke, and isolated migraine with aura. Porencephaly (fluid-filled cavities in the brain detected by CT or MRI) is typically manifest as infantile hemiparesis, seizures, and intellectual disability; however, on occasion it can be an incidental finding. HANAC (hereditary angiopathy with nephropathy, aneurysms, and muscle cramps) syndrome usually associates asymptomatic small-vessel brain disease, cerebral large vessel involvement (i.e., aneurysms), and systemic findings involving the kidney, muscle, and small vessels of the eye. Two additional phenotypes include isolated retinal artery tortuosity and nonsyndromic autosomal dominant congenital cataract.|GeneReviews|N|
C4551999|Patterned dystrophies of the retinal pigment epithelium (RPE) refer to a heterogeneous group of macular disorders, characterized by an abnormal accumulation of lipofuscin in the RPE. The lipofuscin is most apparent in the macular area, and its distribution can show various sizes and shapes. High inter- and intrafamilial variability has been described, and retinitis pigmentosa (RP; see 268000)-like changes have sometimes been observed in association with patterned dystrophies (summary by Vaclavik et al., 2012).
Three main varieties of patterned dystrophy of the RPE have been described: reticular ('fishnet-like') dystrophy (see 179840 and 267800), macroreticular ('spider-shaped') dystrophy, and butterfly-shaped pigment dystrophy of the fovea.
Genetic Heterogeneity of Patterned Macular Dystrophy
Also see MDPT2 (608970), caused by mutation in the CTNNA1 gene (116805) on chromosome 5q31; and MDPT3 (617111), caused by mutation in the MAPKAPK3 gene (602130) on chromosome 3p21.|OMIM|N|
C4552000|PRRT2-associated paroxysmal movement disorders (PRRT2-PxMD) include paroxysmal kinesigenic dyskinesia (PKD), benign familial infantile epilepsy (BFIE), paroxysmal kinesigenic dyskinesia with infantile convulsions (PKD/IC), and hemiplegic migraine (HM). In addition, PRRT2 pathogenic variants have been identified in other childhood-onset movement disorders and different types of seizures, suggesting that the understanding of the spectrum of PRRT2-PxMD is still evolving. The paroxysmal attacks in PKD are characterized by dystonia, choreoathetosis, and less commonly ballismus. The seizures of BFIE are usually focal with or without generalization. Thirty percent of PRRT2-associated PKD is associated with BFIE and is referred to as PKD/IC.|GeneReviews|N|
C4552001|The Meier-Gorlin syndrome is a rare disorder characterized by severe intrauterine and postnatal growth retardation, microcephaly, bilateral microtia, and aplasia or hypoplasia of the patellae (summary by Shalev and Hall, 2003). While almost all cases have primordial dwarfism with substantial prenatal and postnatal growth retardation, not all cases have microcephaly, and microtia and absent/hypoplastic patella are absent in some. Despite the presence of microcephaly, intellect is usually normal (Bicknell et al., 2011).
Genetic Heterogeneity of Meier-Gorlin Syndrome
Most forms of Meier-Gorlin syndrome are autosomal recessive disorders, including Meier-Gorlin syndrome-1; Meier-Gorlin syndrome-2 (613800), caused by mutation in the ORC4 gene (603056) on chromosome 2q23; Meier-Gorlin syndrome-3 (613803), caused by mutation in the ORC6 gene (607213) on chromosome 16q11; Meier-Gorlin syndrome-4 (613804), caused by mutation in the CDT1 gene (605525) on chromosome 16q24; Meier-Gorlin syndrome-5 (613805), caused by mutation in the CDC6 gene (602627) on chromosome 17q21; Meier-Gorlin syndrome-7 (617063), caused by mutation in the CDC45L gene (603465) on chromosome 22q11; and Meier-Gorlin syndrome-8 (617564), caused by mutation in the MCM5 gene (602696) on chromosome 22q12.
An autosomal dominant form of the disorder, Meier-Gorlin syndrome-6 (616835), is caused by mutation in the GMNN gene (602842) on chromosome 6p22.|OMIM|N|
C4552002|Weill-Marchesani syndrome (WMS) is a connective tissue disorder characterized by abnormalities of the lens of the eye, short stature, brachydactyly, joint stiffness, and cardiovascular defects. The ocular problems, typically recognized in childhood, include microspherophakia (small spherical lens), myopia secondary to the abnormal shape of the lens, ectopia lentis (abnormal position of the lens), and glaucoma, which can lead to blindness. Height of adult males is 142-169 cm; height of adult females is 130-157 cm. Autosomal recessive WMS cannot be distinguished from autosomal dominant WMS by clinical findings alone.|GeneReviews|N|
C4552003|Ehlers-Danlos syndrome spondylodysplastic type 1 (EDSSPD1) is characterized by short stature, developmental anomalies of the forearm bones and elbow, and bowing of extremities, in addition to the classic stigmata of Ehlers-Danlos syndrome, including joint laxity, skin hyperextensibility, and poor wound healing. Significant developmental delay is not a consistent feature (Guo et al., 2013).
Genetic Heterogeneity of Ehlers-Danlos Syndrome, Spondylodysplastic Type
See EDSSPD2 (615349), caused by mutation in the B3GALT6 gene (615291), and EDSSPD3 (612350), caused by mutation in the SLC39A13 gene (608735).|OMIM|N|
C4552004|Laing distal myopathy is characterized by early-onset weakness (usually before age 5 years) that initially involves the dorsiflexors of the ankles and great toes and then the finger extensors, especially those of the third and fourth fingers. Weakness of the neck flexors is seen in most affected individuals and mild facial weakness is often present. After distal weakness has been present for more than ten years, mild proximal weakness may be observed. Life expectancy is normal.|GeneReviews|N|
C4552006|An electrocardiographic finding of a regular supraventricular tachycardia which utilizes an atrioventricular bypass tract as its retrograde limb (orthodromic tachycardia) or as its antegrade limb (antidromic tachycardia). QRS complexes during sinus rhythm may show preexcitation. During orthodromic tachycardia the preexcitation is not present and a retrograde P wave may appear after the QRS complex. During antidromic tachycardia the QRS complex is preexcited. (CDISC)|NCI|N|
C4552011|A reduced ability to secrete gonadotropins, which are protein hormones secreted by gonadotrope cells of the anterior pituitary gland, including the hormones follitropin (FSH) and luteinizing hormone (LH).|HPO|N|
C4552013|Stage IIA includes: IIA (T2a, N0, M0); IIA1 (T2a1, N0, M0); IIA2 (T2a2, N0, M0). T2a: Tumor without parametrial invasion. T2a1: Clinically visible lesion 4.0 cm or less in greatest dimension. T2a2: Clinically visible lesion more than 4.0 cm in greatest dimension. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C4552014|Stage IIA includes: (Any pT/TX, N1, M0, S0); (Any pT/TX, N1, M0, S1). pTX: Primary tumor cannot be assessed. N1: Metastasis with a lymph node mass 2 cm or less in greatest dimension; or multiple lymph nodes, none more than 2cm in greatest dimension. M0: No distant metastasis. S0: Marker study levels within normal limits. S1: LDH less than 1.5 x N (N indicates the upper limit of normal for the LDH assay) and hCG less than 5,000 and AFP less than 1,000. (AJCC 6th and 7th eds.)|NCI|N|
C4552015|Stage IIB includes: (Any pT/TX, N2, M0, S0); (Any pT/TX, N2, M0, S1). pTX: Primary tumor cannot be assessed. N2: Metastasis with a lymph node mass more than 2 cm but not more than 5 cm in greatest dimension; or multiple lymph nodes, any one mass greater than 2 cm but not more than 5 cm in greatest dimension. M0: No distant metastasis. S0: Marker study levels within normal limits. S1: LDH less than 1.5 x N (N indicates the upper limit of normal for the LDH assay) and hCG less than 5,000 and AFP less than 1,000. (AJCC 6th and 7th eds.)|NCI|N|
C4552016|Stage IIIA includes: (Any pT/TX, Any N, M1a, S0); (Any pT/TX, Any N, M1a, S1). M1a: Non-regional nodal or pulmonary metastasis. S0: Marker study levels within normal limits. S1: LDH less than 1.5 x N (N indicates the upper limit of normal for the LDH assay) and hCG less than 5,000 and AFP less than 1,000. (AJCC 6th and 7th eds.)|NCI|N|
C4552017|Stage IIIB includes: (Any pT/TX, N1-3, M0, S2); (Any pT/TX, Any N, M1a, S2). N1: Metastasis with a lymph node mass 2 cm or less in greatest dimension; or multiple lymph nodes, none more than 2cm in greatest dimension. N2: Metastasis with a lymph node mass more than 2 cm but not more than 5 cm in greatest dimension; or multiple lymph nodes, any one mass greater than 2 cm but not more than 5 cm in greatest dimension. N3: Metastasis with a lymph node mass more than 5 cm in greatest dimension. M0: No distant metastasis. M1a: Non-regional nodal or pulmonary metastasis. S2: LDH 1.5-10 x N (N indicates the upper limit of normal for the LDH assay) or hCG 5,000-50,000 or AFP 1,000-10,000. (AJCC 6th and 7th eds.)|NCI|N|
C4552018|Stage IIIC includes: (Any pT/TX, N1-3, M0, S3); (Any pT/TX, Any N, M1a, S3); (Any pT/TX, Any N, M1b, Any S). N1: Metastasis with a lymph node mass 2 cm or less in greatest dimension; or multiple lymph nodes, none more than 2cm in greatest dimension. N2: Metastasis with a lymph node mass more than 2 cm but not more than 5 cm in greatest dimension; or multiple lymph nodes, any one mass greater than 2 cm but not more than 5 cm in greatest dimension. N3: Metastasis with a lymph node mass more than 5 cm in greatest dimension. M0: No distant metastasis. M1a: Non-regional nodal or pulmonary metastasis. M1b: Distant metastasis other than to non-regional lymph nodes and lung. S3: LDH more than 10 x N (N indicates the upper limit of normal for the LDH assay) or hCG more than 50,000 or AFP more than 10,000. (AJCC 6th and 7th eds.)|NCI|N|
C4552019|Stage IS includes: Any pT/TX, N0, M0, S1-3. pTX: Primary tumor cannot be assessed. N0: No regional lymph node metastasis. M0: No distant metastasis. S1: LDH less than 1.5 x N (N indicates the upper limit of normal for the LDH assay) and hCG less than 5,000 and AFP less than 1,000. S2: LDH 1.5-10 x N or hCG 5,000-50,000 or AFP 1,000-10,000. S3: LDH more than 10 x N or hCG more than 50,000 or AFP more than 10,000. (AJCC 6th and 7th eds.)|NCI|N|
C4552021|A disorder characterized by an infectious process involving the scrotum.|NCI|N|
C4552029|Dyskeratosis congenita and related telomere biology disorders (DC/TBD) are caused by impaired telomere maintenance resulting in short or very short telomeres. The phenotypic spectrum of telomere biology disorders is broad and includes individuals with classic dyskeratosis congenita (DC) as well as those with very short telomeres and an isolated physical finding. Classic DC is characterized by a triad of dysplastic nails, lacy reticular pigmentation of the upper chest and/or neck, and oral leukoplakia, although this may not be present in all individuals. People with DC/TBD are at increased risk for progressive bone marrow failure (BMF), myelodysplastic syndrome or acute myelogenous leukemia, solid tumors (usually squamous cell carcinoma of the head/neck or anogenital cancer), and pulmonary fibrosis. Other findings can include eye abnormalities (epiphora, blepharitis, sparse eyelashes, ectropion, entropion, trichiasis), taurodontism, liver disease, gastrointestinal telangiectasias, and avascular necrosis of the hips or shoulders. Although most persons with DC/TBD have normal psychomotor development and normal neurologic function, significant developmental delay is present in both forms; additional findings include cerebellar hypoplasia (Hoyeraal Hreidarsson syndrome) and bilateral exudative retinopathy and intracranial calcifications (Revesz syndrome and Coats plus syndrome). Onset and progression of manifestations of DC/TBD vary: at the mild end of the spectrum are those who have only minimal physical findings with normal bone marrow function, and at the severe end are those who have the diagnostic triad and early-onset BMF.|GeneReviews|N|
C4552043|An autosomal recessive condition caused by mutation(s) in the CNTNAP2 gene, encoding contactin-associated protein-like 2. It is characterized by normal development until the onset of intractable focal seizures at age 1-9. After the onset of seizures, language regression, intellectual disability, hyperactivity, and impulsive behaviors begin to occur. The majority of children eventually fulfill the criteria for autism spectrum disorder.|NCI|N|
C4552048|A clustering of abdominal obesity, high triglycerides, low levels of high density lipoprotein cholesterol (HDLC), high blood pressure, and elevated fasting glucose levels is sometimes called metabolic syndrome X (Reaven, 1988) or abdominal obesity-metabolic syndrome (Bjorntorp, 1991). The syndrome may affect nearly 1 in 4 U.S. adults and is considered a veritable epidemic (Ford et al., 2002). It is a major risk factor for both diabetes mellitus (see 125853 and Haffner et al., 1992) and cardiovascular disease (Isomaa et al., 2001). The etiology is complex, determined by the interplay of both genetic and environmental factors. The prevalence varies substantially among ethnic groups, with the highest rates in Mexican American women (Park et al., 2003). Other factors influencing the metabolic syndrome include age, smoking, alcohol, diet, and physical inactivity.
Genetic Heterogeneity of Abdominal Obesity-Metabolic Syndrome
AOMS2 (605572) has been mapped to chromosome 17p12. AOMS3 (615812) is caused by mutation in the DYRK1B gene (604556) on chromosome 19q13. AOMS4 (618620) is caused by mutation in the CELA2A gene (609443) on chromosome 1p36.|OMIM|N|
C4552049|Focal nonepidermolytic palmoplantar keratoderma-1 (FNEPPK1) is an autosomal dominant skin disorder characterized by large, hard, compact, painful masses of keratin that develop at sites of recurrent friction, principally on the feet, though also on the palms and other sites, without evidence of epidermolysis (summary by Kelsell et al., 1995).|OMIM|N|
C4552061|An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the mandible.|HPO|N|
C4552070|Primary pulmonary arterial hypertension is a rare, often fatal, progressive vascular lung disease characterized by increased pulmonary vascular resistance and sustained elevation of mean pulmonary arterial pressure, leading to right ventricular hypertrophy and right heart failure. Pathologic features include a narrowing and thickening of small pulmonary vessels and plexiform lesions. There is pulmonary vascular remodeling of all layers of pulmonary arterial vessels: intimal thickening, smooth muscle cell hypertrophy or hyperplasia, adventitial fibrosis, and occluded vessels by in situ thrombosis (summary by Machado et al., 2009 and Han et al., 2013).
Heterozygous mutations in the BMPR2 gene are found in nearly 70% of families with heritable PPH and in 25% of patients with sporadic disease. The disease is more common in women (female:male ratio of 1.7:1). However, the penetrance of PPH1 is incomplete: only about 10 to 20% of individuals with BMPR2 mutations develop the disease during their lifetime, suggesting that development of the disorder is triggered by other genetic or environmental factors. Patients with PPH1 are less likely to respond to acute vasodilater testing and are unlikely to benefit from treatment with calcium channel blockade (summary by Machado et al., 2009 and Han et al., 2013).
Genetic Heterogeneity of Primary Pulmonary Hypertension
See also PPH2 (615342), caused by mutation in the SMAD9 gene (603295) on chromosome 13q13; PPH3 (615343), caused by mutation in the CAV1 gene (601047) on chromosome 7q31; PPH4 (615344), caused by mutation in the KCNK3 gene (603220) on chromosome 2p23; PPH5 (265400), caused by mutation in the ATP13A3 gene (610232) on chromosome 3q29; and PPH6 (620777), caused by mutation in the CAPNS1 gene (114170) on chromosome 19q13.
Primary pulmonary hypertension may also be found in association with hereditary hemorrhagic telangiectasia type 1 (HHT1; 187300), caused by mutation in the ENG gene (131195), and HHT2 (600376), caused by mutation in the ACVRL1 (ALK1) gene (601284).
Pediatric-onset pulmonary hypertension may be seen in association with ischiocoxopodopatellar syndrome (ICPPS; 147891). The skeletal manifestations of ICPPS are highly variable and may not be detected in children. Parents are not likely to have PAH (Levy et al., 2016).|OMIM|N|
C4552072|A monogenic disease with epilepsy characterised by developmental delay and infantile spasms in the first months of life, followed by chorea and generalised dystonia and progressing to quadriplegic dyskinesia, recurrent status dystonicus, intractable focal epilepsy and severe intellectual disability. Caused by mutation in the aristaless-related homeobox gene (ARX) on chromosome Xp21.|SNOMEDCT_US|N|
C4552079|Fragile X-associated primary ovarian insufficiency (FXPOI) is a condition that affects women and is characterized by reduced function of the ovaries. The ovaries are the female reproductive organs in which egg cells are produced. As a form of primary ovarian insufficiency, FXPOI can cause irregular menstrual cycles, early menopause, an inability to have children (infertility), and elevated levels of a hormone known as follicle stimulating hormone (FSH). FSH is produced in both males and females and helps regulate the development of reproductive cells (eggs in females and sperm in males). In females, the level of FSH rises and falls, but overall it increases as a woman ages. In younger women, elevated levels may indicate early menopause and fertility problems.\n\nThe severity of FXPOI is variable. The most severely affected women have overt POI (formerly called premature ovarian failure). These women have irregular or absent menstrual periods and elevated FSH levels before age 40. Overt POI often causes infertility. Other women have occult POI; they have normal menstrual periods but reduced fertility, and they may have elevated levels of FSH (in which case, it is called biochemical POI). The reduction in ovarian function caused by FXPOI results in low levels of the hormone estrogen, which leads to many of the common signs and symptoms of menopause, such as hot flashes, insomnia, and thinning of the bones (osteoporosis). Women with FXPOI undergo menopause an average of 5 years earlier than women without the condition.|MedlinePlus Genetics|N|
C4552092|Dowling-Degos disease (DDD) is an autosomal dominant genodermatosis characterized by reticular pigmentation, usually in a flexural distribution. However, generalized DDD can also occur, with numerous hypopigmented or erythematous macules and papules on the neck, chest, and abdomen. The histopathology of DDD shows characteristic thin branch-like patterns of epidermal downgrowth (summary by Li et al., 2013).
Review of Reticulate Pigment Disorders
Muller et al. (2012) reviewed the spectrum of reticulate pigment disorders of the skin, tabulating all reported cases of patients with Dowling-Degos disease, reticulate acropigmentation of Kitamura (RAK; 615537), reticulate acropigmentation of Dohi (RAD; 127400), Galli-Galli disease (GGD), and Haber syndrome (HS). Of 82 cases, 26 (31.7%) were clinically diagnosed as DDD, 13 (15.9%) as RAD, 11 (13.4%) as GGD, 8 (9.8%) as RAK, and 8 (9.8%) as HS; in addition, 16 (19.5%) of the cases showed overlap between DDD and RAK. Muller et al. (2012) also published photographs of an affected individual exhibiting an overlap of clinical features of DDD, GGD, RAD, and RAK. The authors noted that in reticulate disorders of the skin, the main disease entity is DDD, with a subset of cases exhibiting acantholysis (GGD), facial erythema (HS), or an acral distribution (RAD; RAK). Muller et al. (2012) concluded that all reticulate pigment diseases of the skin are varying manifestations of a single entity.
Genetic Heterogeneity of Reticulate Pigment Disorders
Dowling-Degos disease-2 (DDD2; 615327) is caused by mutation in the POFUT1 gene (607491) on chromosome 20q11. Dowling-Degos disease-3 (DDD3; 615674) has been mapped to chromosome 17p33.3. Dowling-Degos disease-4 (DDD4; 615696) is caused by mutation in the POGLUT1 gene (615618) on chromosome 3q13. Dyschromatosis symmetrica hereditaria (DSH; 127400), also known as reticulate acropigmentation of Dohi (RAD), is caused by mutation in the ADAR gene (146920) on chromosome 1q21. Reticulate acropigmentation of Kitamura (RAK; 615537) is caused by mutation in the ADAM10 gene (602192) on chromosome 15q21.|OMIM|N|
C4552094|An electrocardiographic finding of a ventricular tachycardia in which the QRS complexes have a variable morphology and often rate. (CDISC)|NCI|N|
C4552097|Schimmelpenning-Feuerstein-Mims syndrome, also known as linear sebaceous nevus syndrome, is characterized by sebaceous nevi, often on the face, associated with variable ipsilateral abnormalities of the central nervous system, ocular anomalies, and skeletal defects (summary by Happle, 1991 and Ernst et al., 2007). The linear sebaceous nevi follow the lines of Blaschko (Hornstein and Knickenberg, 1974; Bouwes Bavinck and van de Kamp, 1985). All cases are sporadic. The syndrome is believed to be caused by an autosomal dominant lethal mutation that survives by somatic mosaicism (Gorlin et al., 2001).|OMIM|N|
C4552100|Lynch syndrome is characterized by an increased risk for colorectal cancer (CRC) and cancers of the endometrium, ovary, stomach, small bowel, urinary tract, biliary tract, brain (usually glioblastoma), skin (sebaceous adenomas, sebaceous carcinomas, and keratoacanthomas), pancreas, and prostate. Cancer risks and age of onset vary depending on the associated gene. Several other cancer types have been reported to occur in individuals with Lynch syndrome (e.g., breast, sarcomas, adrenocortical carcinoma). However, the data are not sufficient to demonstrate that the risk of developing these cancers is increased in individuals with Lynch syndrome.|GeneReviews|N|
C4552109|A Number 0 Tessier cleft is a true median cleft lip with a broad columella and bifid nasal tip. The alveolar cleft is between the central incisors. The nasal septum may be thickened, duplicated, or absent. The nasal bridge is usually broad with associated orbital hypertelorism. The midline soft tissue anomaly may range from a mild broadening of the philtrum or there may be a true median cleft lip. The columella and nasal tip are typically bifid and broadened with a midline depression. The alae nasi are intact but laterally displaced. The nose appears shortened in the vertical dimension.|HPO|N|
C4552110|This midline cranial cleft usually occurs with a midline facial cleft that completes a median craniofacial dysraphia. A broad nasal root and bifid nose are associated with orbital hypertelorism and a median frontal encephalocele. The frontal bone abnormality varies from a minor flattening to a large midline defect. There is an increased distance between the olfactory grooves. The crista galli is widened, duplicated, or in some cases absent. Marked inferior prolapse of the enlarged ethmoid bone occurs with orbital hypertelorism. The severe orbital hypertelorism is associated with a broad flattening of the glabella and extreme lateral displacement of the inner canthi. The periorbita, including the eyelids and eyebrows, are otherwise normal. A long midline projection of the frontal hairline marks the superior extent of the soft tissue features of this midline cranial cleft. The median frontal defect delineates the region through which the frontal encephalocele herniates. The lateral segments of the frontal bone sweep upward from the region of the intact glabella and are flattened laterally. No pneumatization of the frontal sinus is evident. The crista galli and the perpendicular plate of the ethmoid are bifid. Just as the ethmoid, including the cribriform plate, is widened and caudally displaced, the sphenoid sinus is broadened and extensively, but symmetrically pneumatized. The lateral rotation of the greater and lesser wings of the sphenoid results in a relative shortening of the anteroposterior dimension of the middle cranial fossa. The floor of the anterior cranial fossa is upslanting from its medial aspect to its lateral aspect, with a harlequin appearance on the coronal scan.|HPO|N|
C4552111|The temporozygomatic Number 7 cleft is found in both Treacher Collins syndrome and hemifacial microsomia. Soft tissue manifestations include macrostomia, malformations of the external and middle ear, temporalis muscle, variable involvement of the seventh cranial nerve (in hemifacial microsomia), and abnormalities of the preauricular hair in Treacher Collins syndrome. The skeletal cleft is through the pterygomaxillary junction, and vertical maxillary hypoplasia is present. In addition, abnormality of the mandibular ramus, coronoid, and condyle and absence of the zygomatic arch are typically present. A soft tissue furrow extends from the macrostomia laterally and superiorly across the cheek toward the preauricular hairline. The lower eyelids are intact. The anatomy of the external ear is normal, and there are no preauricular tags. Bony clefting is through the pterygomaxillary junction with hypoplasia of the alveolar process in the molar region, thereby producing a posterior open bite. The maxilla is hypoplastic, although the maxillary sinuses are symmetrically pneumatized. The hypoplastic zygomatic body arches upward, but then it takes a downward course and is severely malformed and displaced. The zygoma is continuous posteriorly with an apparently normal zygomatic process of the temporal bone. The mandibular condyle and coronoid process are hypoplastic and asymmetric. There is no antegonial notching of the mandible. Marked cranial base asymmetry, with tilting and asymmetric positioning of the temporomandibular articulations, is present. The anatomy of the sphenoid is abnormal, especially on the right where there is no recognizable medial or lateral pterygoid plate.|HPO|N|
C4552113|The frontozygomatic or Number 8 cleft is found in both Treacher Collins syndrome and the Goldenhar variant of hemifacial microsomia. Skeletal defects are more prominent in Treacher Collins syndrome, whereas the soft tissue clefting is more typical in cases of ''Goldenhar syndrome''. Soft tissue clefting presents as a dermatocele, a true lateral eyelid coloboma with absence of the outer canthus, and anomalies of the globe itself, especially epibulbar cysts in patients with Goldenhar syndrome. The frontozygomatic bony cleft produces absence of the lateral orbital rim; this border now is formed by the hypoplastic greater wing of the sphenoid. The absence of bony support for the outer canthus produces lateral canthal dystopia and the characteristic antimongoloid slant of the palpebral fissures. Secondary to the bony deficiency in the lateral orbital wall and floor, there is soft tissue continuity between the orbit, temporal fossa, and infratemporal region. Preauricular hairline indicators delineate the Number 8 cleft as the first of the northbound clefts. Complete absence of the bony lateral orbital wall and rim constitute the skeletal element of the Number 8 cleft. The lateral border of the orbit is formed by the greater wing of the sphenoid from which small spicules of bone, which represent the rudimentary zygoma, may be found in Treacher Collins syndrome. The symmetry of the facial anomalies is reflected in the apparently normal symmetric anterior and middle cranial fossae.|HPO|N|
C4552208|A rare biphasic malignant neoplasm with dual differentiation towards the specialized follicular stroma and germinative follicular cells, which can be strikingly atypical. (WHO 2018)|NCI|N|
C4552224|A condition characterized by extremely low B-cell counts. It occurs when anti-CD19 CAR T-cells attack and kill CD19-expressing B-lymphocytes.|NCI|N|
C4552294|A rare hereditary angio-oedema characterised by potentially life-threatening episodes of subcutaneous and/or submucosal oedema without urticaria, associated with C1 esterase inhibitor (C1-INH) deficiency. Hereditary angio-oedema (HAE) type 1 is caused by quantitative, HAE type 2 by qualitative defects of C1-INH. The two subtypes are clinically indistinguishable. Patients may present at any age (but most commonly in childhood) with recurrent attacks of nonpitting oedema of the skin, severe abdominal symptoms such as pain and swelling, and/or respiratory distress due to upper respiratory airways involvement. Genital, bladder, muscle or joint swelling may occur in some cases.|SNOMEDCT_US|N|
C4552479|Anal squamous cell carcinoma that has spread from its primary site to another anatomic site.|NCI|N|
C4552543|A rare systemic disease characterised by acute or subacute onset of thrombocytopenia, anasarca (oedema, pleural effusion, ascites) and systemic inflammation (fever and/or elevated C-reactive protein). Minor diagnostic categories are Castleman disease-like features on lymph node biopsy, reticulin myelofibrosis and/or increased number of megakaryocytes in bone marrow, progressive renal insufficiency and mild organomegaly including hepatosplenomegaly and lymphadenopathy. Most patients show elevated levels of serum alkaline phosphatase while marked polyclonal hypergammopathy is rare.|SNOMEDCT_US|N|
C4552597|A disorder characterized by the acute loss of renal function (within 2 weeks) and is traditionally classified as pre-renal (low blood flow into kidney), renal (kidney damage) and post-renal causes (ureteral or bladder outflow obstruction).|NCI|N|
C4552599|A change in the nucleotide sequence of the ATRX gene.|NCI|N|
C4552611|A disorder characterized by bleeding from the cecum.|NCI|N|
C4552612|A disorder characterized by an infectious process involving the cecum.|NCI|N|
C4552613|A disorder characterized by a necrotic process occurring in the brain and/or spinal cord.|NCI|N|
C4552614|Cervical carcinoma confined to uterus (extension to corpus should be disregarded). (from AJCC 8th Ed.)|NCI|N|
C4552615|Cervical carcinoma confined to uterus (extension to corpus should be disregarded). (from AJCC 8th Ed.)|NCI|N|
C4552616|Cervical cancer with clinically visible lesion confined to the cervix. (from AJCC 8th Ed.)|NCI|N|
C4552617|Cervical cancer with clinically visible lesion confined to the cervix or microscopic lesion greater than T1a/IA2. It includes all macroscopically visible lesions, even those with superficial invasion. (from AJCC 8th Ed.)|NCI|N|
C4552618|Cervical cancer with clinically visible lesion 4.0 cm or less in greatest dimension. (from AJCC 8th Ed.)|NCI|N|
C4552619|Cervical cancer with clinically visible lesion 4.0 cm or less in greatest dimension. (from AJCC 8th Ed.)|NCI|N|
C4552620|Cervical cancer with clinically visible lesion more than 4.0 cm in greatest dimension. (from AJCC 8th Ed.)|NCI|N|
C4552621|Cervical cancer with clinically visible lesion more than 4.0 cm in greatest dimension. (from AJCC 8th Ed.)|NCI|N|
C4552622|Cervical carcinoma invading beyond the uterus but not to the pelvic wall or to lower third of vagina. (from AJCC 8th Ed.)|NCI|N|
C4552623|Cervical carcinoma invading beyond the uterus but not to the pelvic wall or to lower third of vagina. (from AJCC 8th Ed.)|NCI|N|
C4552624|Cervical carcinoma invading beyond the uterus but not to the pelvic wall or to lower third of vagina without parametrial invasion. (from AJCC 8th Ed.)|NCI|N|
C4552625|Cervical carcinoma invading beyond the uterus but not to the pelvic wall or to lower third of vagina without parametrial invasion. (from AJCC 8th Ed.)|NCI|N|
C4552626|Cervical carcinoma invading beyond the uterus but not to the pelvic wall or to lower third of vagina without parametrial invasion. Clinically visible lesion 4.0 cm or less in greatest dimension. (from AJCC 8th Ed.)|NCI|N|
C4552627|Cervical carcinoma invading beyond the uterus but not to the pelvic wall or to lower third of vagina without parametrial invasion. Clinically visible lesion 4.0 cm or less in greatest dimension. (from AJCC 8th Ed.)|NCI|N|
C4552628|Cervical carcinoma invading beyond the uterus but not to the pelvic wall or to lower third of vagina without parametrial invasion. Clinically visible lesion more than 4.0 cm in greatest dimension. (from AJCC 8th Ed.)|NCI|N|
C4552629|Cervical carcinoma invading beyond the uterus but not to the pelvic wall or to lower third of vagina without parametrial invasion. Clinically visible lesion more than 4.0 cm in greatest dimension. (from AJCC 8th Ed.)|NCI|N|
C4552634|A disorder characterized by an infectious process involving a mucosal surface.|NCI|N|
C4552635|A disorder characterized by ulceration or inflammation of the oral mucosal.|NCI|N|
C4552636|A disorder characterized by progressive deterioration of the lungs, liver, kidney and clotting mechanisms.|NCI|N|
C4552638|A disorder characterized by marked cramping sensation originating from a muscle or group of muscles.|NCI|N|
C4552639|A disorder characterized by a reduction in the strength of the muscles on the left side of the body.|NCI|N|
C4552640|A disorder characterized by a reduction in the strength of the lower limb muscles.|NCI|N|
C4552641|A disorder characterized by a reduction in the strength of the muscles on the right side of the body.|NCI|N|
C4552642|A disorder characterized by a reduction in the strength of the trunk muscles.|NCI|N|
C4552643|A disorder characterized by a reduction in the strength of the upper limb muscles.|NCI|N|
C4552644|A disorder characterized by a malformation of the musculoskeletal system.|NCI|N|
C4552646|A disorder characterized by marked discomfort sensation originating from a muscle or group of muscles.|NCI|N|
C4552647|A disorder characterized by weakness and rapid fatigue of any of the skeletal muscles.|NCI|N|
C4552649|A disorder characterized by the formation of crystals/kidney stones in the pelvis of the kidney.|NCI|N|
C4552650|A disorder characterized by paroxysmal and severe flank marked discomfort radiating to the inguinal area. Often, the cause is the passage of crystals/kidney stones.|NCI|N|
C4552651|A disorder characterized by impaired gas exchange by the respiratory system resulting in hypoxia and a decrease in oxygenation of the tissues that may be associated with an increase in arterial levels of carbon dioxide.|NCI|N|
C4552652|A disorder characterized by the separation of the inner retina layers from the underlying pigment epithelium.|NCI|N|
C4552653|A disorder characterized by a small laceration of the retina, this occurs when the vitreous separates from the retina. Symptoms include flashes and floaters.|NCI|N|
C4552654|A disorder characterized by pathological retinal blood vessels that adversely affects vision.|NCI|N|
C4552655|A disorder characterized by bleeding from the retroperitoneal area.|NCI|N|
C4552657|A disorder characterized by headaches, mental status changes, visual disturbances, and/or seizures associated with imaging findings of posterior leukoencephalopathy. It has been observed in association with hypertensive encephalopathy, eclampsia, and immunosuppressive and cytotoxic drug treatment. It is an acute or subacute reversible condition. Also known as posterior reversible encephalopathy syndrome (PRES).|NCI|N|
C4552660|A disorder characterized by the breakdown of muscle tissue resulting in the release of muscle fiber contents into the bloodstream.|NCI|N|
C4552661|A disorder characterized by an infectious process involving the nasal mucosal.|NCI|N|
C4552662|A disorder characterized by excessive mucous secretions draining from the nose.|NCI|N|
C4552663|A disorder characterized by an infectious process involving the pleura.|NCI|N|
C4552664|A disorder characterized by a sensation of marked discomfort in the pleura.|NCI|N|
C4552665|A disorder characterized by inflammation focally or diffusely affecting the lung parenchyma.|NCI|N|
C4552669|A disorder characterized by an increase in blood pressure in the portal venous system.|NCI|N|
C4552670|A disorder characterized by the formation of a thrombus (blood clot) in the portal vein.|NCI|N|
C4552671|A disorder characterized by bleeding occurring after a surgical procedure.|NCI|N|
C4552672|A finding of a previously undocumented problem that occurs after a thoracic procedure.|NCI|N|
C4552673|Stage I includes: T1, N0, M0. T1: Ovarian cancer with tumor limited to ovaries (one or both). N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th Ed.)|NCI|N|
C4552674|Stage I includes: T1a, N0, M0. T1a: Penile cancer with tumor without lymphovascular invasion or perineural invasion and is not high grade (i.e., grade 3 or sarcomatoid). N0: No lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4552675|Stage I includes: (cT1a-c, cT2a, N0, M0, PSA less than 10, Grade Group 1); (pT2, N0, M0, PSA less than 10, Grade Group 1). cT1a: Prostate cancer in which the tumor is an incidental histologic finding in 5% or less of tissue resected. cT1b: Prostate cancer in which the tumor is an incidental histologic finding in more than 5% of tissue resected. cT1c: Prostate cancer in which the tumor is identified by needle biopsy found in one or both sides, but not palpable. cT2a: Prostate cancer in which the tumor involves one-half of one side or less. pT2: Prostate cancer which is organ confined. N0: Prostate cancer with no positive regional nodes. M0: Prostate cancer without evidence of distant metastasis. Grade Group 1: Gleason Score 6 or less, Gleason Pattern 3 or less+3. (AJCC 8th ed.)|NCI|N|
C4552676|Stage I includes: T1, N0, M0. T1: Tumor measuring 7 cm or less in greatest dimension, limited to the kidney. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4552677|Stage I includes: T1, N0, M0. T1: Tumor invades subepithelial connective tissue. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4552678|Stage I includes: T1, N0, M0. T1: Tumor invades subepithelial connective tissue. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4552679|Stage I includes: Under 55 years: Any T, Any N, M0. 55 years and older: (T1, N0/NX, M0); (T2, N0/NX, M0). T1: Tumor measuring 2 cm or less in greatest dimension limited to the thyroid. T2: Tumor measuring more than 2 cm but 4 cm or less in greatest dimension limited to the thyroid. N0: No evidence of locoregional lymph node metastasis. NX: Regional lymph nodes cannot be assessed. M0: No distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4552680|Stage I includes: T1, N0, M0. T1: Tumor measuring 2 cm or less in greatest dimension limited to the thyroid. N0: No evidence of locoregional lymph node metastasis. M0: No distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4552681|Stage I includes: Under 55 years: Any T, Any N, M0. 55 years and older: (T1, N0/NX, M0); (T2, N0/NX, M0). T1: Tumor measuring 2 cm or less in greatest dimension limited to the thyroid. T2: Tumor measuring more than 2 cm but 4 cm or less in greatest dimension limited to the thyroid. N0: No evidence of locoregional lymph node metastasis. NX: Regional lymph nodes cannot be assessed. M0: No distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4552682|Stage I includes: T1, N0, M0. T1: Tumor invades subepithelial connective tissue. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4552683|Stage I includes: T1, N0, M0. T1: For male penile urethra and female urethra: Tumor invades subepithelial connective tissue. For prostatic urethra: Tumor invades urethral subepithelial connective tissue immediately underlying the urothelium. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4552684|Stage I includes: T1, N0, M0. T1: Uterine corpus carcinoma or carcinosarcoma with tumor confined to the corpus uteri, including endocervical glandular involvement. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th Ed.)|NCI|N|
C4552685|Stage I includes: IA: T1a, N0, M0; IB: T1b, N0, M0. T1a: Tumor confined to the vagina, measuring 2.0 cm or less. T1b: Tumor confined to the vagina, measuring more than 2.0 cm. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th Ed.)|NCI|N|
C4552686|Stage IA includes: T1a, Any N, M0. T1a: Tumor diagnosed only by microscopy. Stromal invasion with a maximum depth of 5.0 mm measured from the base of the epithelium and a horizontal spread of 7.0 mm or less. Vascular space involvement, venous or lymphatic, does not affect classification. M0: No distant metastasis. (AJCC 8th Ed.)|NCI|N|
C4552687|Stage IA includes: T1a, N0, M0. T1a: Fallopian tube cancer with tumor limited to fallopian tube surface; no malignant cells in ascites or peritoneal washings N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th Ed.)|NCI|N|
C4552688|Stage IA includes: T1a, N0, M0. T1a: Ovarian cancer with tumor limited to one ovary (capsule intact); no malignant cells in ascites or peritoneal washings. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th Ed.)|NCI|N|
C4552689|Stage IA includes: T1a, N0, M0. T1a: Uterine corpus carcinoma or carcinosarcoma with tumor limited to the endometrium or invading less than half the myometrium. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th Ed.)|NCI|N|
C4552690|Stage IA1 includes: T1a1, Any N, M0. T1a1: Invasive cervical carcinoma with measured stromal invasion of 3.0 mm or less in depth and 7.0 mm or less in horizontal spread. M0: No distant metastasis. (AJCC 8th Ed.)|NCI|N|
C4552733|A disorder characterized by a sensation of marked discomfort in the external ear region.|NCI|N|
C4552735|A disorder characterized by apprehension of danger and dread accompanied by restlessness, tension, tachycardia, and dyspnea unattached to a clearly identifiable stimulus.|NCI|N|
C4552736|A disorder characterized by an infectious process involving the skin such as cellulitis.|NCI|N|
C4552737|A disorder characterized by a sensation of marked discomfort in the tooth.|NCI|N|
C4552738|A disorder characterized by uncontrolled and purposeless movements.|NCI|N|
C4552739|A disorder characterized by an infectious process involving the soft tissues around the nail.|NCI|N|
C4552740|A disorder characterized by elevation of the body''s temperature above the upper limit of normal.|NCI|N|
C4552741|A disorder characterized by the abnormal absence of menses for at least three consecutive menstrual cycles|NCI|N|
C4552742|A disorder characterized by delivery of a viable infant before the normal end of gestation. Typically, viability is achievable between the twentieth and thirty-seventh week of gestation.|NCI|N|
C4552743|A disorder characterized by occlusion of the hepatic veins and typically presents with abdominal pain, ascites and hepatomegaly.|NCI|N|
C4552745|A disorder characterized by non-neoplastic overgrowth of bone.|NCI|N|
C4552746|A disorder characterized by marked discomfort in the throat|NCI|N|
C4552747|A disorder characterized by an abnormal increase in the curvature of the thoracic portion of the spine.|NCI|N|
C4552760|A disorder characterized by excitement of psychotic proportions manifested by mental and physical hyperactivity, disorganization of behavior and elevation of mood.|NCI|N|
C4552766|A pregnancy that ends at a stage in which the fetus is incapable of surviving on its own, defined as the spontaneous loss of a fetus before the 22th week of pregnancy.|HPO|N|
C4552773|A disorder characterized by a malformed, lateral curvature of the spine.|NCI|N|
C4552774|A disorder characterized by a sensation of marked discomfort related to a limb or an organ that is removed from or is not physically part of the body.|NCI|N|
C4552775|Death that cannot be attributed to a CTCAE term associated with Grade 5.|NCI|N|
C4552776|A finding of traumatic injury to the hip in which the continuity of either the femoral head, femoral neck, intertrochanteric or subtrochanteric regions is broken.|NCI|N|
C4552777|A disorder characterized by an increase in amounts of fluid within the pleural cavity. Symptoms include shortness of breath, cough and marked chest discomfort.|NCI|N|
C4552785|A disorder characterized by a sensation of marked discomfort of the lip.|NCI|N|
C4552801|The presence of mutations in both alleles of the ATM gene that either lead to loss of expression of the ATM protein or result in the translation of an inactive ATM protein.|NCI|N|
C4552805|A disorder characterized by a rupture in the wall of the extrahepatic or intrahepatic bile duct.|NCI|N|
C4552806|A disorder characterized by occlusion of a vessel by a thrombus that has migrated from a distal site via the blood stream.|NCI|N|
C4552807|A disorder characterized by an incomplete paralysis of the muscles of the stomach wall resulting in delayed emptying of the gastric contents into the small intestine.|NCI|N|
C4552808|Death due to disease progression that cannot be attributed to a CTCAE term associated with Grade 5.|NCI|N|
C4552809|A disorder characterized by an infectious process involving the gallbladder.|NCI|N|
C4552810|A disorder characterized by an abnormal responsiveness to stimuli or physiological arousal; may be in response to pain, fright, a drug, an emotional situation or a medical condition.|NCI|N|
C4552811|A disorder characterized by a reduction in the strength of muscles in multiple anatomic sites.|NCI|N|
C4552812|A disorder characterized by fever, tachypnea, headache, tachycardia, hypotension, rash, and/or hypoxia caused by the release of cytokines.|NCI|N|
C4552813|A disorder characterized by an abnormal communication between the bile ducts and another organ or anatomic site.|NCI|N|
C4552815|A disorder characterized by abnormal function or appearance of the testis.|NCI|N|
C4552816|A disorder characterized by an abnormal communication between the bronchus and another organ or anatomic site.|NCI|N|
C4552817|A disorder characterized by an uncomfortable persistent sensation in the area of the laryngopharynx.|NCI|N|
C4552818|A disorder characterized by the inability of the liver to metabolize chemicals in the body. Laboratory test results reveal abnormal plasma levels of ammonia, bilirubin, lactic dehydrogenase, alkaline phosphatase, aminotransferase, and/or prolongation of prothrombin time (INR.) Drug-induced liever injury (DILI) as defined by Hy''s Law.|NCI|N|
C4552819|A disorder characterized by bleeding from the gastric wall.|NCI|N|
C4552820|A disorder characterized by abnormally high acidity (high hydrogen-ion concentration) of the blood and other body tissues.|NCI|N|
C4552821|A disorder characterized by underdevelopment of the breast.|NCI|N|
C4552822|A disorder characterized by inflammation or infection of the hair follicles.|NCI|N|
C4552823|A disorder characterized by a narrowing of the lumen of the pancreatic duct.|NCI|N|
C4552824|A disorder characterized by an infectious process involving a joint.|NCI|N|
C4552825|A disorder characterized by a necrotic process occurring in the soft tissues of the lower extremity.|NCI|N|
C4552826|A disorder characterized by blockage of the normal flow of the contents in the stomach.|NCI|N|
C4552827|A disorder characterized by vertical or horizontal ridges on the nails.|NCI|N|
C4552828|A finding of damage to the superior vena cava.|NCI|N|
C4552829|A disorder characterized by a narrowing of the lumen of the small intestine.|NCI|N|
C4552830|A finding of leakage due to breakdown of a pharyngeal anastomosis (surgical connection of two separate anatomic structures).|NCI|N|
C4552831|A disorder characterized by an infectious process involving the vulva.|NCI|N|
C4552832|A finding of leakage of urine due to breakdown of a bladder anastomosis (surgical connection of two separate anatomic structures).|NCI|N|
C4552833|A disorder characterized by laboratory test results that indicate an elevation in the concentration of blood sugar. It is usually an indication of diabetes mellitus or glucose intolerance.|NCI|N|
C4552834|A disorder characterized by a sensation of marked discomfort in the liver region.|NCI|N|
C4552835|To expel gas noisily from the mouth.|NCI|N|
C4552836|A disorder characterized by the presence of a virus in the blood stream.|NCI|N|
C4552837|A disorder characterized by the presence of pathogenic microorganisms in the blood stream that cause a rapidly progressing systemic reaction that may lead to shock.|NCI|N|
C4552838|A disorder characterized by bleeding from the intestinal stoma.|NCI|N|
C4552839|A disorder characterized by laboratory test results that indicate a low concentration of magnesium in the blood.|NCI|N|
C4552840|A disorder characterized by the body''s immune system attacking the peripheral nervous system causing ascending paralysis.|NCI|N|
C4552841|A finding of damage to a vein.|NCI|N|
C4552842|A disorder characterized by an infectious process involving the upper respiratory tract (nose, paranasal sinuses, pharynx, larynx, or trachea).|NCI|N|
C4552843|A disorder characterized by laboratory test results that indicate an elevation in the concentration of calcium (corrected for albumin) in blood.|NCI|N|
C4552844|A disorder characterized by acute inflammation of the meninges of the brain and/or spinal cord.|NCI|N|
C4552845|A disorder characterized by inflammation involving a joint.|NCI|N|
C4552846|A disorder characterized by an abnormal communication between the opening in the anal canal to the perianal skin.|NCI|N|
C4552850|A disorder characterized by partial or complete loss of the ability to detect or understand sounds resulting from damage to ear structures.|NCI|N|
C4552851|A disorder characterized by an infectious process involving the kidney.|NCI|N|
C4552852|A finding based on laboratory test results that indicate an increase in the level of lipase in a biological specimen.|NCI|N|
C4552855|A disorder characterized by a state of restlessness associated with unpleasant feelings of irritability and tension.|NCI|N|
C4552858|A disorder characterized by an uncomfortable feeling of inner restlessness and inability to stay still; this is a side effect of some psychotropic drugs.|NCI|N|
C4552859|A finding based on laboratory test results that indicate an increase in the level of alanine aminotransferase (ALT or SGPT) in the blood specimen.|NCI|N|
C4552860|A disorder characterized by an increase in sensitivity to the adverse effects of alcohol, which can include nasal congestion, skin flushes, heart dysrhythmias, nausea, vomiting, indigestion and headaches.|NCI|N|
C4552862|A disorder characterized by abnormally high alkalinity (low hydrogen-ion concentration) of the blood and other body tissues.|NCI|N|
C4552863|A disorder characterized by an adverse local or general response from exposure to an allergen.|NCI|N|
C4552864|A disorder characterized by an inflammation of the nasal mucous membranes caused by an IgE-mediated response to external allergens. The inflammation may also involve the mucous membranes of the sinuses, eyes, middle ear, and pharynx. Symptoms include sneezing, nasal congestion, rhinorrhea and itching.|NCI|N|
C4552865|Cervical carcinoma invading beyond the uterus but not to the pelvic wall or to lower third of vagina with parametrial invasion. (from AJCC 8th Ed.)|NCI|N|
C4552866|Cervical carcinoma invading beyond the uterus but not to the pelvic wall or to lower third of vagina with parametrial invasion. (from AJCC 8th Ed.)|NCI|N|
C4552867|Cervical cancer extending to pelvic sidewall and/or involving the lower third of vagina, and/or causing hydronephrosis or nonfunctioning kidney. The pelvic sidewall is defined as the muscle, fascia, neurovascular structures, and skeletal portions of the bony pelvis. (from AJCC 8th Ed.)|NCI|N|
C4552868|Cervical cancer extending to pelvic sidewall and/or involving the lower third of vagina, and/or causing hydronephrosis or nonfunctioning kidney. The pelvic sidewall is defined as the muscle, fascia, neurovascular structures, and skeletal portions of the bony pelvis. (from AJCC 8th Ed.)|NCI|N|
C4552869|Cervical cancer involving the lower third of vagina but not extending to pelvic wall. (from AJCC 8th Ed.)|NCI|N|
C4552870|Cervical cancer involving the lower third of vagina but not extending to pelvic wall. (from AJCC 8th Ed.)|NCI|N|
C4552871|Cervical cancer extending to pelvic wall and/or causing hydronephrosis or nonfunctioning kidney. (from AJCC 8th Ed.)|NCI|N|
C4552872|Cervical cancer extending to pelvic wall and/or causing hydronephrosis or nonfunctioning kidney. (from AJCC 8th Ed.)|NCI|N|
C4552873|Cervical cancer invading the mucosa of the bladder or rectum, and/or extending beyond the true pelvis (bullous edema is not sufficient to classify a tumor as T4). (from AJCC 8th Ed.)|NCI|N|
C4552874|Cervical cancer invading the mucosa of the bladder or rectum, and/or extending beyond the true pelvis (bullous edema is not sufficient to classify a tumor as T4). (from AJCC 8th Ed.)|NCI|N|
C4552875|Cervical cancer with distant metastasis (including peritoneal spread or involvement of the supraclavicular, mediastinal, or distant lymph nodes; lung; liver; or bone). (from AJCC 8th Ed.)|NCI|N|
C4552876|Cervical cancer with distant metastasis (including peritoneal spread or involvement of the supraclavicular, mediastinal, or distant lymph nodes; lung; liver; or bone). (from AJCC 8th Ed.)|NCI|N|
C4552877|A disorder characterized by an infectious process involving the uterine cervix.|NCI|N|
C4552879|A disorder characterized by insufficiently healthy hematapoietic cell production by the bone marrow.|NCI|N|
C4552880|A disorder characterized by inflammation of the muscle tissue of the heart.|NCI|N|
C4552881|A disorder characterized by inflammation involving the skeletal muscles.|NCI|N|
C4552883|A disorder characterized by a change in the nails.|NCI|N|
C4552884|A disorder characterized by a change in the color of the nail plate.|NCI|N|
C4552885|A disorder characterized by an infectious process involving the nail.|NCI|N|
C4552886|A disorder characterized by loss of all or a portion of the nail.|NCI|N|
C4552900|A finding of damage to the jugular vein.|NCI|N|
C4552901|A disorder characterized by a sudden contraction of the smooth muscles of the bronchial wall.|NCI|N|
C4552902|A disorder characterized by the presence of macules (flat) and papules (elevated). Also known as morbillform rash, it is one of the most common cutaneous adverse events, frequently affecting the upper trunk, spreading centripetally and associated with pruritis.|NCI|N|
C4552903|A disorder characterized by a decrease in consciousness characterized by mental and physical inertness.|NCI|N|
C4552908|A disorder characterized by swelling due to an excessive accumulation of fluid in the genitals.|NCI|N|
C4552909|A disorder characterized by hemorrhagic areas of the skin and mucous membrane. Newer lesions appear reddish in color. Older lesions are usually a darker purple color and eventually become a brownish-yellow color.|NCI|N|
C4552914|A score of 4 or 5 on a 5-point PET scale with reduced uptake compared with baseline and residual mass(es) of any size. Residual uptake higher than uptake in normal marrow but reduced compared to baseline.|NCI|N|
C4552915|A disorder characterized by unusually early development of secondary sexual features; the onset of sexual maturation begins usually before age 8 for girls and before age 9 for boys.|NCI|N|
C4552916|A disorder characterized by premature ovarian failure. Symptoms may include hot flashes, night sweats, mood swings, and a decrease in sex drive. Laboratory findings include elevated luteinizing hormone (LH) and follicle-stimulating hormone (FSH.)|NCI|N|
C4552918|A disorder characterized by an episode of lightheadedness and dizziness which may precede an episode of syncope.|NCI|N|
C4552921|Stage IA2 includes: T1a2, Any N, M0. T1a2: Invasive cervical carcinoma with measured stromal invasion of more than 3.0 mm and not more than 5.0 mm, with a horizontal spread of 7.0 mm or less. M0: No distant metastasis. (AJCC 8th Ed.)|NCI|N|
C4552922|Stage IB includes: T1b, Any N, M0. T1b: Tumor with clinically visible lesion confined to the cervix or microscopic lesion greater than T1a/IA2. It includes all macroscopically visible lesions, even those with superficial invasion. M0: No distant metastasis. (AJCC 8th Ed.)|NCI|N|
C4552923|Stage IB includes: T1b, N0, M0. T1b: Fallopian tube cancer with tumor limited to fallopian tubes; no tumor on fallopian tube surface; no malignant cells in ascites or peritoneal washings. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th Ed.)|NCI|N|
C4552924|Stage IB includes: T1b, N0, M0. T1b: Ovarian cancer with tumor limited to one or both ovaries (capsules intact); no tumor on ovarian surface; no malignant cells in ascites or peritoneal washings. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th Ed.)|NCI|N|
C4552925|Stage IB includes: T1b, N0, M0. T1b: Uterine corpus carcinoma or carcinosarcoma with tumor invading one half or more of the myometrium. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th Ed.)|NCI|N|
C4552926|Stage IB1 includes: T1b1, Any N, M0. T1b1: Tumor with clinically visible lesion 4.0 cm or less in greatest dimension. M0: No distant metastasis. (AJCC 8th Ed.)|NCI|N|
C4552927|Stage IB2 includes: T1b2, Any N, M0. T1b2: Tumor with clinically visible lesion more than 4.0 cm in greatest dimension. M0: No distant metastasis. (AJCC 8th Ed.)|NCI|N|
C4552928|Stage IC includes: T1c, N0, M0. T1c: Fallopian tube cancer with tumor limited to fallopian tubes, with any of the following: surgical spill, capsule ruptured before surgery or tumor on fallopian tube surface, or malignant cells in ascites or peritoneal washings. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th Ed.)|NCI|N|
C4552929|Stage IC includes: T1c, N0, M0. T1c: Ovarian cancer with tumor limited to one or both ovaries, with any of the following: surgical spill, capsule ruptured before surgery or tumor on ovarian surface, or malignant cells in ascites or peritoneal washings. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th Ed.)|NCI|N|
C4552930|Stage II includes: T2, N0, M0. T2: Tumor measuring more than 5 cm in greatest dimension, with no extra-adrenal invasion. N0: No regional lymph node metastasis. M0: No distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4552931|Stage II includes: (T2a, N0, M0); (T2b, N0, M0). T2a: Tumor invades superficial muscularis propria (inner half). T2b: Tumor invades deep muscularis propria (outer half). N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4552932|Stage II includes: T2, Any N, M0. T2: Cervical carcinoma invading beyond the uterus but not to the pelvic wall or to lower third of vagina. M0: No distant metastasis. (AJCC 8th Ed.)|NCI|N|
C4552933|Stage II includes: Under 55 years: Any T, Any N, M1; 55 years and older: (T1, N1, M0); (T2, N1, M0); (T3a/T3b, Any N, M0). T1: Tumor measuring 2 cm or less in greatest dimension limited to the thyroid. T2: Tumor measuring more than 2 cm but 4 cm or less in greatest dimension limited to the thyroid. T3a: Tumor measuring more than 4 cm in greatest dimension limited to the thyroid. T3b: Gross extrathyroidal extension invading only strap muscles (sternohyoid, sternothyroid, thyrohyoid, or omohyoid muscles) from a tumor of any size. N1: Metastasis to regional nodes. M0: No distant metastasis. M1: Distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4552934|Stage II includes: T2, N0, M0. T2: Fallopian tube cancer with tumor involving fallopian tubes with pelvic extension below pelvic brim. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th Ed.)|NCI|N|
C4552938|A disorder characterized by expectorated secretions upon coughing.|NCI|N|
C4552939|Newborn death occurring during the first 28 days after birth.|NCI|N|
C4552940|A disorder characterized by an infectious process involving the brain and spinal cord tissues.|NCI|N|
C4552941|A disorder characterized by the acute and sudden development of confusion, illusions, movement changes, inattentiveness, agitation, and hallucinations. Usually, it is a reversible condition.|NCI|N|
C4552943|A disorder characterized by a rupture in the colonic wall.|NCI|N|
C4552944|A disorder characterized by an infectious process involving a tooth.|NCI|N|
C4552945|A disorder characterized by greater growth than expected for age.|NCI|N|
C4552946|A disorder characterized by an infectious process involving the skeletal muscles.|NCI|N|
C4552947|A disorder characterized by inflammation of the skin characterized by the presence of bullae which are filled with fluid.|NCI|N|
C4552948|A disorder characterized by involvement of the optic nerve (second cranial nerve).|NCI|N|
C4552950|A disorder characterized by an infectious process involving the lungs, including pneumonia.|NCI|N|
C4552951|A disorder characterized by dysfunction of the corticospinal (pyramidal) tracts of the spinal cord. Symptoms include an increase in the muscle tone in the lower extremities, hyperreflexia, positive Babinski and a decrease in fine motor coordination.|NCI|N|
C4552952|A finding based on laboratory test results that indicate a decrease in number of lymphocytes in a blood specimen.|NCI|N|
C4552953|A disorder characterized by blockage of the normal flow of contents of the urinary tract.|NCI|N|
C4552954|A disorder characterized by pathological irregularities in the cardiac conduction system.|NCI|N|
C4552955|A disorder characterized by a narrowing of the bronchial tube.|NCI|N|
C4552956|A disorder characterized by a decrease in flexibility of a cervical spine joint.|NCI|N|
C4552957|A finding of leakage due to breakdown of a ureteral anastomosis (surgical connection of two separate anatomic structures).|NCI|N|
C4552958|A finding of leakage due to breakdown of an anastomosis (surgical connection of two separate anatomic structures) in the small bowel.|NCI|N|
C4552959|A disorder characterized by gross necrosis of the myocardium; this is due to an interruption of blood supply to the area.|NCI|N|
C4552960|A disorder characterized by a sensation of marked discomfort in the ear.|NCI|N|
C4552961|A disorder characterized by a sensation of marked discomfort in the gingival region.|NCI|N|
C4552962|A finding based on laboratory test results that indicate an abnormally high level of bilirubin in the blood. Excess bilirubin is associated with jaundice.|NCI|N|
C4552963|A disorder characterized by shrinking of adipose tissue.|NCI|N|
C4552964|A finding of leakage of bile due to breakdown of a biliary anastomosis (surgical connection of two separate anatomic structures).|NCI|N|
C4552965|A finding of damage to the ear during a surgical procedure.|NCI|N|
C4552966|A disorder characterized by a change in the color of the urine.|NCI|N|
C4552967|A finding based on laboratory test results that indicate a decrease in number of neutrophils in a blood specimen.|NCI|N|
C4552968|A disorder characterized by an uncomfortable, often painful feeling in the stomach, resulting from impaired digestion. Symptoms include burning stomach, bloating, heartburn, nausea and vomiting.|NCI|N|
C4552969|A disorder characterized by an abnormal communication between the uterus and another organ or anatomic site.|NCI|N|
C4552970|A finding of damage to the respiratory system during a surgical procedure.|NCI|N|
C4552971|A disorder characterized by an infectious process involving the bladder.|NCI|N|
C4552972|A disorder characterized by incomplete paralysis of an extraocular muscle.|NCI|N|
C4552973|A disorder characterized by a circumscribed, erosive lesion on the mucosal surface of the anal canal.|NCI|N|
C4552974|A finding of damage to the ankle joint characterized by a break in the continuity of the ankle bone. Symptoms include marked discomfort, swelling and difficulty moving the affected leg and foot.|NCI|N|
C4552980|A disorder characterized by an abnormal communication between a bronchus and the pleural cavity.|NCI|N|
C4552981|A disorder characterized by an increase in sexual desire.|NCI|N|
C4552982|A disorder characterized by a high pitched breathing sound due to laryngeal or upper airway obstruction.|NCI|N|
C4552983|A disorder characterized by laboratory test results that indicate an elevation in the concentration of potassium in the blood; associated with kidney failure or sometimes with the use of diuretic drugs.|NCI|N|
C4552984|A disorder characterized by an infectious process involving the trachea.|NCI|N|
C4552985|A disorder characterized by a narrowing of the lumen of the colon.|NCI|N|
C4552986|A finding of a cardiac dysrhythmia characterized by an abnormally long corrected QT interval.|NCI|N|
C4552987|A finding based on laboratory test results that indicate an decrease in number of white blood cells in a blood specimen.|NCI|N|
C4552988|A disorder characterized by inappropriate masculinization occurring in a female or prepubertal male.|NCI|N|
C4552989|A disorder characterized by a feeling of general discomfort or uneasiness, an out-of-sorts feeling.|NCI|N|
C4552990|A disorder characterized by a change in the sense of smell.|NCI|N|
C4552991|A disorder characterized by fibrotic degeneration of the deep connective tissues.|NCI|N|
C4552992|A disorder characterized by an infectious process involving the biliary tract.|NCI|N|
C4552993|A disorder characterized by laboratory test results that indicate glucose in the urine.|NCI|N|
C4552994|A disorder characterized by an infectious process involving the esophagus.|NCI|N|
C4552995|A finding based on laboratory test results that indicate increased levels of cardiac troponin T in a biological specimen.|NCI|N|
C4552996|A disorder characterized by redness, marked discomfort, swelling, and tingling in the palms of the hands or the soles of the feet. Also known as Hand-Foot Syndrome.|NCI|N|
C4552997|A finding based on laboratory test results that indicate a decrease in number of platelets in a blood specimen.|NCI|N|
C4552998|A disorder characterized by an infectious process involving the orbit of the eye.|NCI|N|
C4552999|A disorder characterized by adverse reaction to the infusion of pharmacological or biological substances.|NCI|N|
C4553000|A disorder characterized by ulceration or inflammation of the mucous membrane of the rectum.|NCI|N|
C4553001|A disorder characterized by a decrease or absence of blood supply to the brain caused by obstruction (thrombosis or embolism) of an artery resulting in neurological damage.|NCI|N|
C4553002|A disorder characterized by excessive sweating.|NCI|N|
C4553003|A finding of damage to the spleen during a surgical procedure.|NCI|N|
C4553004|A disorder characterized by the sensation of marked discomfort, distress or agony.|NCI|N|
C4553005|A disorder characterized by damage or dysfunction of the peripheral motor nerves.|NCI|N|
C4553006|A disorder characterized by blockage of the lumen of the trachea.|NCI|N|
C4553007|A disorder characterized by a sensation of marked discomfort in the upper or lower extremities.|NCI|N|
C4553008|A disorder characterized by leakage of intravascular fluids into the extravascular space. This syndrome is observed in patients who demonstrate a state of generalized leaky capillaries following shock syndromes, low-flow states, ischemia-reperfusion injuries, toxemias, medications, or poisoning. It can lead to generalized edema and multiple organ failure.|NCI|N|
C4553009|A disorder characterized by hair density or length beyond the accepted limits of normal in a particular body region, for a particular age or race.|NCI|N|
C4553010|A disorder characterized by a narrowing of the lumen of the ileum.|NCI|N|
C4553015|A disorder characterized by an acute inflammatory reaction resulting from the release of histamine and histamine-like substances from mast cells, causing a hypersensitivity immune response. Clinically, it presents with breathing difficulty, dizziness, hypotension, cyanosis and loss of consciousness and may lead to death.|NCI|N|
C4553018|A disorder characterized by necrotic changes in the bone tissue due to interruption of blood supply. Most often affecting the epiphysis of the long bones, the necrotic changes result in the collapse and the destruction of the bone structure.|NCI|N|
C4553048|A finding based on laboratory test results that indicate a decrease in levels of bicarbonate in a venous blood specimen.|NCI|N|
C4553049|A disorder characterized by bleeding from the bronchial wall and/or lung parenchyma.|NCI|N|
C4553052|A disorder characterized by change in hair color or loss of normal pigmentation.|NCI|N|
C4553069|A disorder characterized by laboratory test results that indicate an elevation in the concentration of uric acid.|NCI|N|
C4553070|A disorder characterized by blockage of the urostomy.|NCI|N|
C4553071|A disorder characterized by a sensation of marked discomfort in the anal region.|NCI|N|
C4553088|A rare syndrome of peripheral and cranial nerve dysfunction in patients with haematologic malignancies, mostly non-Hodgkin''s lymphoma or acute leukaemia, characterised by painful or painless involvement of peripheral or cranial nerves or nerve roots. The clinical presentation is diverse depending on the site involved and includes plexopathy, mononeuritis multiplex, peripheral neuropathy, radiculopathy and cranial nerve palsies.|SNOMEDCT_US|N|
C4553089|A finding based on laboratory test results that indicate an increase in the level of aspartate aminotransferase (AST or SGOT) in a blood specimen.|NCI|N|
C4553091|A disorder characterized by air in the subcutaneous tissue.|NCI|N|
C4553092|A disorder characterized by an infectious process involving the internal structures of the eye.|NCI|N|
C4553094|A disorder characterized by inflammation involving the vagina. Symptoms may include redness, edema, marked discomfort and an increase in vaginal discharge.|NCI|N|
C4553095|A disorder characterized by an infectious process involving the mediastinum.|NCI|N|
C4553096|A disorder characterized by an infectious process involving the duodenum.|NCI|N|
C4553097|A disorder characterized by excessive tearing in the eyes; it can be caused by overproduction of tears or impaired drainage of the tear duct.|NCI|N|
C4553098|A disorder characterized by a circumscribed and elevated skin lesion filled with pus.|NCI|N|
C4553099|A disorder characterized by a dysrhythmia with complete failure of atrial electrical impulse conduction through the AV node to the ventricles.|NCI|N|
C4553100|A disorder characterized by accumulation of milky fluid in the peritoneal cavity.|NCI|N|
C4553101|A disorder characterized by laboratory test results that indicate increased methemoglobin in the blood.|NCI|N|
C4553102|A disorder characterized by impaired eyelid function.|NCI|N|
C4553103|A disorder characterized by a defect in aortic valve function or structure.|NCI|N|
C4553104|A disorder characterized by dysfunction of the vagus nerve (tenth cranial nerve).|NCI|N|
C4553105|A disorder characterized by cessation of the pumping function of the heart.|NCI|N|
C4553106|A disorder characterized by leakage of the infusion into the surrounding tissue. Signs and symptoms may include induration, erythema, swelling, burning sensation and marked discomfort at the infusion site.|NCI|N|
C4553108|A disorder characterized by distortion of sensory perception, resulting in an abnormal and unpleasant sensation.|NCI|N|
C4553109|A disorder characterized by a circumscribed, erosive lesion on the mucosal surface of the small intestine.|NCI|N|
C4553110|A disorder characterized by severe hepatic injury as a result of the blood vessels of the liver becoming inflamed and/or blocked.|NCI|N|
C4553111|A disorder characterized by an infectious process involving the outer ear and ear canal. Contributory factors include excessive water exposure (swimmer''s ear infection) and cuts in the ear canal. Symptoms include fullness, itching, swelling and marked discomfort in the ear and ear drainage.|NCI|N|
C4553114|A disorder characterized by hypertrophy of the subcutaneous adipose tissue at the site of multiple subcutaneous injections of insulin.|NCI|N|
C4553115|A disorder characterized by subject-reported feeling of uncomfortable fullness of the abdomen.|NCI|N|
C4553116|A disorder characterized by a decrease in sexual desire.|NCI|N|
C4553117|A disorder characterized by an infectious process involving a stoma (surgically created opening on the surface of the body).|NCI|N|
C4553118|A disorder characterized by an infectious process involving the anal area and the rectum.|NCI|N|
C4553119|A disorder characterized by a sensation of marked discomfort on the lateral side of the body in the region below the ribs and above the hip.|NCI|N|
C4553120|A disorder characterized by a rupture in the wall of the esophagus.|NCI|N|
C4553121|A disorder characterized by bleeding from the duodenum.|NCI|N|
C4553122|A finding based on laboratory test results that indicate increased levels of cardiac troponin I in a biological specimen.|NCI|N|
C4553123|A disorder characterized by development of a malignancy most probably as a result of treatment for a previously existing malignancy.|NCI|N|
C4553160|The reemergence of anaplastic oligoastrocytoma after a period of remission.|NCI|N|
C4553161|The reemergence of anaplastic oligodendroglioma after a period of remission.|NCI|N|
C4553162|A response indicating that an individual''s activity is normal with no limitations.|NCI|N|
C4553163|A response indicating that an individual is able to do little activity and spends most of the day in bed or chair.|NCI|N|
C4553164|A disorder characterized by swelling due to excessive fluid accumulation at a specific anatomic site.|NCI|N|
C4553165|A disorder characterized by leukemia arising as a result of the mutagenic effect of chemotherapy agents.|NCI|N|
C4553166|A disorder characterized by dizziness, imbalance, nausea, and vision problems.|NCI|N|
C4553173|A disorder characterized by a suspected candidal infection involving an oral mucosal surface.|NCI|N|
C4553176|A disorder characterized by systematic and extensive loss of memory.|NCI|N|
C4553179|A disorder characterized by bleeding from the anal region.|NCI|N|
C4553180|A disorder characterized by ulceration or inflammation of the mucous membrane of the anus.|NCI|N|
C4553181|A disorder characterized by a necrotic process occurring in the anal region.|NCI|N|
C4553184|A disorder characterized by a sensation of marked discomfort in the chest wall.|NCI|N|
C4553185|A disorder characterized by a sensation of cold that often marks a physiologic response to sweating after a fever.|NCI|N|
C4553186|A disorder characterized by inflammation involving the gallbladder. It may be associated with the presence of gallstones.|NCI|N|
C4553187|A finding based on laboratory test results that indicate higher than normal levels of cholesterol in a blood specimen.|NCI|N|
C4553188|A disorder characterized by gradual and usually permanent loss of kidney function resulting in renal failure.|NCI|N|
C4553194|A disorder characterized by a deterioration in the ability to concentrate.|NCI|N|
C4553196|A finding based on laboratory test results that indicate an decrease in levels of corticotrophin in a blood specimen.|NCI|N|
C4553197|A disorder characterized by a sensation of marked discomfort in various parts of the head, not confined to the area of distribution of any nerve.|NCI|N|
C4553198|A disorder characterized by generalized inflammatory erythema and exfoliation. The inflammatory process involves > 90% of the body surface area.|NCI|N|
C4553199|A disorder characterized by failure of the left ventricle to produce adequate output.|NCI|N|
C4553201|A disorder characterized by reflux of the gastric and/or duodenal contents into the distal esophagus. It is chronic in nature and usually caused by incompetence of the lower esophageal sphincter, and may result in injury to the esophageal mucosal. Symptoms include heartburn and acid indigestion.|NCI|N|
C4553202|A disorder characterized by an inability to properly metabolize glucose.|NCI|N|
C4553203|A disorder characterized by diffuse reactive astrocytosis with multiple areas of necrotic foci without inflammation.|NCI|N|
C4553204|A disorder characterized by disturbances of milk secretion. It is not necessarily related to pregnancy that is observed in females and can be observed in males.|NCI|N|
C4553206|A finding based on laboratory test results that indicate higher than normal levels of the enzyme gamma-glutamyltransferase in the blood specimen. GGT (gamma-glutamyltransferase ) catalyzes the transfer of a gamma glutamyl group from a gamma glutamyl peptide to another peptide, amino acids or water.|NCI|N|
C4553207|A disorder characterized by a viral pathologic process involving the liver parenchyma.|NCI|N|
C4553208|A disorder characterized by dysfunction of the oculomotor nerve (third cranial nerve).|NCI|N|
C4553214|A situation referring to a severe reaction, risk or indication against use of a treatment or device.|NCI|N|
C4553215|A finding based on laboratory test results that indicate an decrease in levels of fibrinogen in a blood specimen.|NCI|N|
C4553216|A finding of damage to the musculoskeletal system during a surgical procedure.|NCI|N|
C4553217|A disorder characterized by inflammation of the salivary duct.|NCI|N|
C4553218|A disorder characterized by an infectious process involving the salivary gland.|NCI|N|
C4553219|A finding of leakage due to breakdown of a spermatic cord anastomosis (surgical connection of two separate anatomic structures).|NCI|N|
C4553220|A disorder characterized by functional disturbances of sensory neurons resulting in abnormal cutaneous sensations of tingling, numbness, pressure, cold, and/or warmth.|NCI|N|
C4553221|A disorder characterized by an area of epithelial tissue loss on the surface of the cornea. It is associated with inflammatory cells in the cornea and anterior chamber.|NCI|N|
C4553223|A finding of damage to the kidney during a surgical procedure.|NCI|N|
C4553224|A finding of leakage due to breakdown of a uterine anastomosis (surgical connection of two separate anatomic structures).|NCI|N|
C4553231|A disorder characterized by an infectious process involving the prostate gland.|NCI|N|
C4553232|A disorder characterized by compression of the urethra secondary to enlargement of the prostate gland. This results in voiding difficulties (straining to void, slow urine stream, and incomplete emptying of the bladder).|NCI|N|
C4553237|Stage II includes: T2, N0, M0. T2: Ovarian cancer with tumor involving one or both ovaries with pelvic extension below pelvic brim. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th Ed.)|NCI|N|
C4553238|Stage II includes: IIA: (T1b, N0, M0); (T2, N0, M0); IIB: (T3, N0, M0). T1b: Penile cancer with tumor exhibiting lymphovascular invasion and/or perineural invasion or is high grade (i.e., grade 3 or sarcomatoid). T2: Penile cancer with tumor invading into corpus spongiosum (either glans or ventral shaft) with or without urethral invasion. T3: Penile cancer with tumor invading into corpora cavernosum (including tunica albuginea) with or without urethral invasion. N0: No lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4553239|Stage II includes: IIA: (cT1a-c, cT2a, N0, M0, PSA equal or more than 10 and less than 20, Grade Group 1); (cT2b-c, N0, M0, PSA less than 20, Grade Group 1); IIB: T1-2, N0, M0, PSA less than 20, Grade Group 2; IIC: (T1-2, N0, M0, PSA less than 20, Grade Group 3); (T1-2, N0, M0, PSA less than 20, Grade Group 4). cT1a: Prostate cancer in which the tumor is an incidental histologic finding in 5% or less of tissue resected. cT1b: Prostate cancer in which the tumor is an incidental histologic finding in more than 5% of tissue resected. cT1c: Prostate cancer in which the tumor is identified by needle biopsy found in one or both sides, but not palpable. cT2a: Prostate cancer in which the tumor involves one-half of one side or less. cT2b: Prostate cancer in which the tumor involves more than one-half of one side but not both sides. cT2c: Prostate cancer in which the tumor involves both sides. T1: Prostate cancer with clinically inapparent tumor that is not palpable. T2: Prostate cancer in which the tumor is palpable and confined within the prostate. N0: Prostate cancer with no positive regional nodes. M0: Prostate cancer without evidence of distant metastasis. Grade Group 1: Gleason Score 6 or less, Gleason Pattern 3 or less+3. Grade Group 2: Gleason Score 7, Gleason Pattern 3+4. Grade Group 3: Gleason Score 7, Gleason Pattern 4+3. Grade Group 4: Gleason Score 8, Gleason Pattern 4+4. (AJCC 8th ed.)|NCI|N|
C4553240|Stage II includes: T2, N0, M0. T2: Tumor measuring more than 7 cm in greatest dimension, limited to the kidney. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4553241|Stage II includes: T2, N0, M0. T2: Tumor invades the muscularis. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4553242|Stage II includes: T2, N0, M0. T2: Tumor invades the muscularis. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4553243|Stage II includes: Under 55 years: Any T, Any N, M1; 55 years and older: (T1, N1, M0); (T2, N1, M0); (T3a/T3b, Any N, M0). T1: Tumor measuring 2 cm or less in greatest dimension limited to the thyroid. T2: Tumor measuring more than 2 cm but 4 cm or less in greatest dimension limited to the thyroid. T3a: Tumor measuring more than 4 cm in greatest dimension limited to the thyroid. T3b: Gross extrathyroidal extension invading only strap muscles (sternohyoid, sternothyroid, thyrohyoid, or omohyoid muscles) from a tumor of any size. N1: Metastasis to regional nodes. M0: No distant metastasis. M1: Distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4553244|Stage II includes: (T2, N0, M0); (T3, N0, M0). T2: Tumor measuring more than 2 cm but less than 4 cm in greatest dimension limited to the thyroid. T3: Tumor measuring 4 cm or more in greatest dimension or with extrathyroidal extension. N0: No evidence of locoregional lymph node metastasis. M0: No distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4553245|Stage II includes: Under 55 years: Any T, Any N, M1; 55 years and older: (T1, N1, M0); (T2, N1, M0); (T3a/T3b, Any N, M0). T1: Tumor measuring 2 cm or less in greatest dimension limited to the thyroid. T2: Tumor measuring more than 2 cm but 4 cm or less in greatest dimension limited to the thyroid. T3a: Tumor measuring more than 4 cm in greatest dimension limited to the thyroid. T3b: Gross extrathyroidal extension invading only strap muscles (sternohyoid, sternothyroid, thyrohyoid, or omohyoid muscles) from a tumor of any size. N1: Metastasis to regional nodes. M0: No distant metastasis. M1: Distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4553246|Stage II includes: T2, N0, M0. T2: Tumor invades the muscularis. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4553247|Stage II includes: T2, N0, M0. T2: For male penile urethra and female urethra: Tumor invades any of the following: corpus spongiosum, periurethral muscle. For prostatic urethra: Tumor invades the prostatic stroma surrounding ducts either by direct extension from the urothelial surface or by invasion from prostatic ducts. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4553248|Stage II includes: T2, N0, M0. T2: Uterine corpus carcinoma or carcinosarcoma with tumor invading the stromal connective tissue of the cervix but not extending beyond the uterus. Does not include endocervical glandular involvement. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th Ed.)|NCI|N|
C4553249|Stage II includes: IIA: T2a, N0, M0; IIB: T2b, N0, M0. T2a: Tumor invading paravaginal tissues but not to pelvic wall, measuring 2.0 cm or less. T2b: Tumor invading paravaginal tissues but not to pelvic wall, measuring more than 2.0 cm. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th Ed.)|NCI|N|
C4553250|Stage IIA includes: T2a, Any N, M0. T2a: Cervical carcinoma invading beyond the uterus but not to the pelvic wall or to lower third of vagina without parametrial invasion. M0: No distant metastasis. (AJCC 8th Ed.)|NCI|N|
C4553251|Stage IIA includes: T2a, N0, M0. T2a: Fallopian tube cancer with extension and/or implants on the uterus and/or fallopian tube(s) and/or ovaries. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th Ed.)|NCI|N|
C4553252|Stage IIA includes: T2a, N0, M0. T2a: Ovarian cancer with tumor extension and/or implants on the uterus and/or fallopian tube(s) and/or ovaries. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th Ed.)|NCI|N|
C4553253|Stage IIA includes: (cT1a-c, cT2a, N0, M0, PSA equal or more than 10 and less than 20, Grade Group 1); (cT2b-c, N0, M0, PSA less than 20, Grade Group 1). cT1a: Prostate cancer in which the tumor is an incidental histologic finding in 5% or less of tissue resected. cT1b: Prostate cancer in which the tumor is an incidental histologic finding in more than 5% of tissue resected. cT1c: Prostate cancer in which the tumor is identified by needle biopsy found in one or both sides, but not palpable. cT2a: Prostate cancer in which the tumor involves one-half of one side or less. cT2b: Prostate cancer in which the tumor involves more than one-half of one side but not both sides. cT2c: Prostate cancer in which the tumor involves both sides. N0: Prostate cancer with no positive regional nodes. M0: Prostate cancer without evidence of distant metastasis. Grade Group 1: Gleason Score 6 or less, Gleason Pattern 3 or less+3. (AJCC 8th ed.)|NCI|N|
C4553254|A reduction in voltage of the PR segment below baseline.|HPO|N|
C4553297|Hydatidosis or cyst hydatic disease is a cosmopolitan larval cestodosis caused principally by the <i>Echinococcus granulosus</i> tapeworm, the adult form of which parasitises the intestine of dogs. Hydatidosis generally affects large domestic herbivores; humans are dead-end hosts, infected through contact with herding dogs or through ingestion of food contaminated with canine excrement.|ORDO|N|
C4553299|A disorder characterized by dysfunction of the trigeminal nerve (fifth cranial nerve).|NCI|N|
C4553300|A disorder characterized by dysfunction of the accessory nerve (eleventh cranial nerve).|NCI|N|
C4553301|A disorder characterized by blockage of the uterine outlet.|NCI|N|
C4553302|A disorder characterized by greater than 30% total body skin area separation of dermis. The syndrome is thought to be a hypersensitivity complex affecting the skin and the mucous membranes.|NCI|N|
C4553304|A finding of separation of the approximated margins of a surgical wound.|NCI|N|
C4553305|A disorder characterized by inflammation, swelling and redness to the conjunctiva of the eye.|NCI|N|
C4553306|A disorder characterized by an inability to achieve orgasm.|NCI|N|
C4553307|A finding of development of a new problem at the site of an existing wound.|NCI|N|
C4553308|A disorder characterized by inflammation of the throat.|NCI|N|
C4553309|A disorder characterized by a narrowing of the laryngeal airway.|NCI|N|
C4553310|A disorder characterized by a decrease in production of thyroid hormone by the thyroid gland.|NCI|N|
C4553311|A disorder characterized by swelling of the abdomen.|NCI|N|
C4553312|A finding of damage to the hepatic parenchyma and/or biliary tract during a surgical procedure.|NCI|N|
C4553313|A disorder characterized by swelling due to an excessive accumulation of fluid around the orbits of the face.|NCI|N|
C4553314|A disorder characterized by a false sensory perception in the absence of an external stimulus.|NCI|N|
C4553315|A disorder characterized by an infectious process involving the gums.|NCI|N|
C4553316|A finding of leakage due to breakdown of a urethral anastomosis (surgical connection of two separate anatomic structures).|NCI|N|
C4553317|A disorder characterized by a circumscribed, erosive lesion on the mucosal surface of the stomach.|NCI|N|
C4553333|A finding indicating that there is a decrease based on a predetermined threshold in the size and the extent of tissue involvement by cancer following an initial apparent radiographic progression.|NCI|N|
C4553334|The disappearance of all signs of cancer following an initial apparent radiographic progression.|NCI|N|
C4553336|A score of 1, 2, or 3 on a 5-point PET scale in nodal or extranodal sites with or without a residual mass. No evidence of FDG-avid disease in the marrow.|NCI|N|
C4553382|A finding of damage to the aorta.|NCI|N|
C4553384|A disorder characterized by a conspicuous change in cognitive function.|NCI|N|
C4553385|A disorder characterized by an abnormal communication between the large intestine and another organ or anatomic site.|NCI|N|
C4553386|A disorder characterized by bleeding from the colon.|NCI|N|
C4553387|A disorder characterized by blockage of the normal flow of the intestinal contents in the colon.|NCI|N|
C4553388|A disorder characterized by a circumscribed, erosive lesion on the mucosal surface of the colon.|NCI|N|
C4553392|A disorder characterized by an infectious process involving the lips.|NCI|N|
C4553394|A disorder characterized by bleeding from the lower gastrointestinal tract (small intestine, large intestine, and anus).|NCI|N|
C4553395|A disorder characterized by a sensation of marked discomfort in the skin covering the top and the back of the head.|NCI|N|
C4553397|A disorder characterized by involvement of the sclera of the eye.|NCI|N|
C4553398|A response indicating that an individual is not their normal self, but able to be up and about with fairly normal activity.|NCI|N|
C4553399|A response indicating that an individual is not feeling up to most things, but in bed or chair less than half the day.|NCI|N|
C4553400|A disorder characterized by a sensation of marked discomfort in the scrotal area.|NCI|N|
C4553401|A disorder characterized by a sudden, involuntary skeletal muscular contractions of cerebral or brain stem origin.|NCI|N|
C4553403|A finding based on laboratory test results that indicate an increase in the levels of amylase in a serum specimen.|NCI|N|
C4553404|A disorder characterized by a delayed-type hypersensitivity reaction to foreign proteins derived from an animal serum. It occurs approximately six to twenty-one days following the administration of the foreign antigen. Symptoms include fever, arthralgias, myalgias, skin eruptions, lymphadenopathy, chest marked discomfort and dyspnea.|NCI|N|
C4553407|A disorder characterized by accumulation of fluid in the lung tissues that causes a disturbance of the gas exchange that may lead to respiratory failure.|NCI|N|
C4553408|A disorder characterized by the replacement of the lung tissue by connective tissue, leading to progressive dyspnea, respiratory failure or right heart failure.|NCI|N|
C4553409|A disorder characterized by an abnormal communication between the lung and another organ or anatomic site.|NCI|N|
C4553410|A disorder characterized by a defect in pulmonary valve function or structure.|NCI|N|
C4553411|Stage IIA1 includes: T2a1, Any N, M0. T2a1: Cervical carcinoma invading beyond the uterus but not to the pelvic wall or to lower third of vagina without parametrial invasion. Clinically visible lesion 4.0 cm or less in greatest dimension. M0: No distant metastasis. (AJCC 8th Ed.)|NCI|N|
C4553412|Stage IIA2 includes: T2a2, Any N, M0. T2a2: Cervical carcinoma invading beyond the uterus but not to the pelvic wall or to lower third of vagina without parametrial invasion. Clinically visible lesion more than 4.0 cm in greatest dimension. M0: No distant metastasis. (AJCC 8th Ed.)|NCI|N|
C4553413|Stage IIB includes: T2b, Any N, M0. T2b: Cervical carcinoma invading beyond the uterus but not to the pelvic wall or to lower third of vagina with parametrial invasion. M0: No distant metastasis. (AJCC 8th Ed.)|NCI|N|
C4553414|Stage IIB includes: T2b, N0, M0. T2b: Fallopian tube cancer with tumor extension to and/or implants on other pelvic tissues. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th Ed.)|NCI|N|
C4553415|Stage IIB includes: T2b, N0, M0. T2b: Ovarian cancer with tumor extension to and/or implants on other pelvic tissues. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th Ed.)|NCI|N|
C4553416|Stage IIB includes: T1-2, N0, M0, PSA less than 20, Grade Group 2. T1: Prostate cancer with clinically inapparent tumor that is not palpable. T2: Prostate cancer in which the tumor is palpable and confined within the prostate. N0: Prostate cancer with no positive regional nodes. M0: Prostate cancer without evidence of distant metastasis. Grade Group 2: Gleason Score 7, Gleason Pattern 3+4. (AJCC 8th ed.)|NCI|N|
C4553417|Stage III includes: (T1, N1, M0); (T2, N1, M0); (T3, Any N, M0); (T4, Any N, M0). T1: Tumor measuring 5 cm or less in greatest dimension, with no extra-adrenal invasion. T2: Tumor measuring more than 5 cm in greatest dimension, with no extra-adrenal invasion. T3: Tumor of any size with local invasion but not invading adjacent organs. T4: Tumor of any size that invades adjacent organs (kidney, diaphragm, pancreas, spleen, or liver) or large blood vessels (renal vein or vena cava). N1: Metastasis in regional lymph node(s). M0: No distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4553418|Stage III includes: IIIA: (T3a, T3b, T4a, N0, M0); (T1-T4a, N1, M0); IIIB: (T1-T4a, N2, N3, M0). T1: Tumor invades lamina propria (subepithelial connective tissue). T2: Tumor invades muscularis propria. T3: Tumor invades perivesical soft tissue. T3a: Tumor invades perivesical soft tissue, microscopically. T3b: Tumor invades perivesical soft tissue, macroscopically (extravesical mass). T4a: Extravesical tumor invades directly into prostatic stroma, uterus, vagina. N0: No regional lymph node metastasis. N1: Single regional lymph node metastasis in the true pelvis (perivesical, obturator, internal and external iliac, or sacral lymph node). N2: Multiple regional lymph node metastasis in the true pelvis (perivesical, obturator, internal and external iliac, or sacral lymph node metastasis). N3: Lymph node metastasis to the common iliac lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4553419|Stage III includes: T3, Any N, M0. T3: Tumor extending to pelvic sidewall and/or involving the lower third of vagina, and/or causing hydronephrosis or nonfunctioning kidney. M0: No distant metastasis. (AJCC 8th Ed.)|NCI|N|
C4553423|A disorder characterized by painful or difficult coitus.|NCI|N|
C4553485|Cancer that is neither decreasing nor increasing in extent or severity based on predetermined boundaries following an initial apparent radiographic progression.|NCI|N|
C4553490|A response indicating that an individual is unable to swallow.|NCI|N|
C4553491|The extent to which a diagnostic or therapeutic product achieves its intended effect in the typical clinical setting.|NCI|N|
C4553525|A disorder characterized by the inability to speak. It may result from injuries to the vocal cords or may be functional (psychogenic).|NCI|N|
C4553526|A disorder characterized by acute inflammation to the vermiform appendix caused by a pathogenic agent.|NCI|N|
C4553527|A disorder characterized by inflammation of the arachnoid membrane and adjacent subarachnoid space.|NCI|N|
C4553530|A disorder characterized by an infectious process involving the conjunctiva. Clinical manifestations include pink or red color in the eyes.|NCI|N|
C4553533|A disorder characterized by an infectious process involving the cornea.|NCI|N|
C4553534|A finding based on laboratory test results that indicate an increase in levels of creatine phosphokinase in a blood specimen.|NCI|N|
C4553535|A disorder characterized by an infectious process involving a cranial nerve.|NCI|N|
C4553536|A finding based on laboratory test results that indicate increased levels of creatinine in a biological specimen.|NCI|N|
C4553540|A disorder characterized by an infectious process involving the lymph nodes.|NCI|N|
C4553541|A disorder characterized by a sensation of marked discomfort in a lymph node.|NCI|N|
C4553542|A disorder characterized by excessive fluid collection in tissues that causes swelling.|NCI|N|
C4553543|A finding based on laboratory test results that indicate an abnormal increase in the number of lymphocytes in the blood, effusions or bone marrow.|NCI|N|
C4553551|A disorder characterized by the reactivation of herpes zoster virus.|NCI|N|
C4553553|A disorder characterized by involvement of the paranasal sinuses.|NCI|N|
C4553554|A disorder characterized by a dysrhythmia with a heart rate greater than 100 beats per minute that originates in the sinus node.|NCI|N|
C4553555|A disorder characterized by an infectious process involving the mucous membranes of the paranasal sinuses.|NCI|N|
C4553557|A disorder characterized by the degeneration and thinning of the epidermis and dermis.|NCI|N|
C4553558|A disorder characterized by darkening of the skin due to excessive melanin deposition.|NCI|N|
C4553559|A disorder characterized by loss of skin pigment (e.g., vitiligo).|NCI|N|
C4553560|A disorder characterized by an area of hardness in the skin.|NCI|N|
C4553561|A disorder characterized by the presence of one or more warts.|NCI|N|
C4553562|A finding of acute skin inflammatory reaction caused by drugs, especially chemotherapeutic agents, for weeks or months following radiotherapy. The inflammatory reaction is confined to the previously irradiated skin and the symptoms disappear after the removal of the pharmaceutical agent.|NCI|N|
C4553563|A disorder characterized by inflammation involving a nerve root. Patients experience marked discomfort radiating along a nerve path because of spinal pressure on the connecting nerve root.|NCI|N|
C4553566|A finding of leakage due to breakdown of a rectal anastomosis (surgical connection of two separate anatomic structures).|NCI|N|
C4553567|Stage III includes: 55 years and older: T4a, Any N, M0. T4a: Gross extrathyroidal extension invading subcutaneous soft tissues, larynx, trachea, esophagus, or recurrent laryngeal nerve from a tumor of any size. M0: No distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4553568|Stage III includes: IIIA1: T1/2, N1, M0; IIIA2: T3a, N0/N1, M0; IIIB: T3b, N0/N1, M0; IIIC: T3c, N0/N1, M0. T1: Fallopian tube cancer with tumor limited to fallopian tube(s). T2: Fallopian tube cancer with tumor involving fallopian tubes with pelvic extension below pelvic brim. T3a: Fallopian tube cancer with microscopic extrapelvic (above the pelvic brim) peritoneal involvement with or without positive retroperitoneal lymph nodes. T3b: Fallopian tube cancer with macroscopic peritoneal metastasis beyond pelvis 2 cm or less in greatest dimension with or without metastasis to the retroperitoneal lymph nodes. T3c: Fallopian tube cancer with macroscopic peritoneal metastasis beyond the pelvis more than 2 cm in greatest dimension with or without metastasis to the retroperitoneal lymph nodes (includes extension of tumor to capsule of liver and spleen without parenchymal involvement of either organ). N0: No regional lymph node metastasis. N1: Positive retroperitoneal lymph nodes only (histologically confirmed). M0: No distant metastasis. (AJCC 8th Ed.)|NCI|N|
C4553569|Stage III includes: IIIA1: T1/2, N1, M0; IIIA2: T3a, N0/N1, M0; IIIB: T3b, N0/N1, M0; IIIC: T3c, N0/N1, M0. T1: Ovarian cancer with tumor limited to ovaries (one or both). T2: Ovarian cancer with tumor involving one or both ovaries with pelvic extension below pelvic brim. T3a: Ovarian cancer with microscopic extrapelvic (above the pelvic brim) peritoneal involvement with or without positive retroperitoneal lymph nodes. T3b: Ovarian cancer with macroscopic peritoneal metastasis beyond pelvis 2 cm or less in greatest dimension with or without metastasis to the retroperitoneal lymph nodes. T3c: Ovarian cancer with macroscopic peritoneal metastasis beyond the pelvis more than 2 cm in greatest dimension with or without metastasis to the retroperitoneal lymph nodes (includes extension of tumor to capsule of liver and spleen without parenchymal involvement of either organ). N0: No regional lymph node metastasis. N1: Positive retroperitoneal lymph nodes only (histologically confirmed). M0: No distant metastasis. (AJCC 8th Ed.)|NCI|N|
C4553570|Stage III includes: IIIA: T1-3, N1, M0; IIIB: T1-3, N2, M0. T1: Glans: Penile cancer with tumor invading lamina propria. Foreskin: Penile cancer with tumor invading dermis, lamina propria, or dartos fascia. Shaft: Penile cancer with tumor invading connective tissue between epidermis and corpora regardless of location. All sites with or without lymphovascular invasion or perineural invasion and is or is not high grade. T2: Penile cancer with tumor invading into corpus spongiosum (either glans or ventral shaft) with or without urethral invasion. T3: Penile cancer with tumor invading into corpora cavernosum (including tunica albuginea) with or without urethral invasion. N1: Penile cancer with two or less unilateral inguinal metastases, no extranodal extension. N2: Penile cancer with three or more unilateral inguinal metastases or bilateral metastases. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4553571|Stage III includes: IIIA: T3a, N0/N1, M0; IIIB: T3b, N0/N1, M0; IIIC: T3c, N0/N1, M0. T3a: Primary peritoneal cancer with microscopic extrapelvic (above the pelvic brim) peritoneal involvement with or without positive retroperitoneal lymph nodes. T3b: Primary peritoneal cancer with macroscopic peritoneal metastasis beyond pelvis 2 cm or less in greatest dimension with or without metastasis to the retroperitoneal lymph nodes. T3c: Primary peritoneal cancer with macroscopic peritoneal metastasis beyond the pelvis more than 2 cm in greatest dimension with or without metastasis to the retroperitoneal lymph nodes (includes extension of tumor to capsule of liver and spleen without parenchymal involvement of either organ). N0: No regional lymph node metastasis. N1: Positive retroperitoneal lymph nodes only (histologically confirmed). M0: No distant metastasis. (AJCC 8th Ed.)|NCI|N|
C4553572|Stage III includes: IIIA: T1-2, N0, M0, PSA 20 or more, Grade Group 1-4; IIIB: T3-4, N0, M0, PSA: Any, Grade Group 1-4; IIIC: Any T, N0, M0, PSA: Any, Grade Group 5. T1: Prostate cancer with clinically inapparent tumor that is not palpable. T2: Prostate cancer in which the tumor is palpable and confined within the prostate. T3: Prostate cancer with extraprostatic tumor that is not fixed or does not invade adjacent structures. T4: Prostate cancer in which the tumor is fixed or invades adjacent structures other than seminal vesicles such as external sphincter, rectum, bladder, levator muscles, and/or pelvic wall. N0: Prostate cancer with no positive regional nodes. M0: Prostate cancer without evidence of distant metastasis. Grade Group 1: Gleason Score 6 or less, Gleason Pattern 3 or less+3. Grade Group 2: Gleason Score 7, Gleason Pattern 3+4. Grade Group 3: Gleason Score 7, Gleason Pattern 4+3. Grade Group 4: Gleason Score 8, Gleason Pattern 4+4. Grade Group 5: Gleason Score 9 or 10, Gleason Pattern 4+5, or 5+4, or 5+5. (AJCC 8th ed.)|NCI|N|
C4553573|Stage III includes: (T1, N1, M0); (T2, N1, M0); (T3, N0, M0); (T3, N1, M0). T1: Tumor measuring 7 cm or less in greatest dimension, limited to the kidney. T2: Tumor measuring more than 7 cm in greatest dimension, limited to the kidney. T3: Tumor extending into major veins or perinephric tissues, but not into the ipsilateral adrenal gland and not beyond Gerota''s fascia. N0: No regional lymph node metastasis. N1: Metastasis in regional lymph node(s). M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4553574|Stage III includes: T3, N0, M0. T3: For renal pelvis only: Tumor invades beyond muscularis into peripelvic fat or into the renal parenchyma. For ureter only: Tumor invades beyond muscularis into periureteric fat. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4553575|Stage III includes: T3, N0, M0. T3: Tumor invades beyond muscularis into peripelvic fat or into the renal parenchyma. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4553576|Stage III includes: 55 years and older: T4a, Any N, M0. T4a: Gross extrathyroidal extension invading subcutaneous soft tissues, larynx, trachea, esophagus, or recurrent laryngeal nerve from a tumor of any size. M0: No distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4553577|Stage III includes: T1-3, N1a, M0. T1: Tumor measuring 2 cm or less in greatest dimension limited to the thyroid. T2: Tumor measuring more than 2 cm but less than 4 cm in greatest dimension limited to the thyroid. T3: Tumor measuring 4 cm or more in greatest dimension or with extrathyroidal extension. N1a: Metastasis to level VI or VII (pretracheal, paratracheal, or prelaryngeal/Delphian, or upper mediastinal) lymph nodes. This can be unilateral or bilateral disease. M0: No distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4553578|Stage III includes: 55 years and older: T4a, Any N, M0. T4a: Gross extrathyroidal extension invading subcutaneous soft tissues, larynx, trachea, esophagus, or recurrent laryngeal nerve from a tumor of any size. M0: No distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4553579|Stage III includes: T3, N0, M0. T3: Tumor invades beyond muscularis into periureteric fat. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4553580|Stage III includes: (T1, N1, M0); (T2, N1, M0); (T3, N0, M0); (T3, N1, M0). T1: For male penile urethra and female urethra: Tumor invades subepithelial connective tissue. For prostatic urethra: Tumor invades urethral subepithelial connective tissue immediately underlying the urothelium. T2: For male penile urethra and female urethra: Tumor invades any of the following: corpus spongiosum, periurethral muscle. For prostatic urethra: Tumor invades the prostatic stroma surrounding ducts either by direct extension from the urothelial surface or by invasion from prostatic ducts. T3: For male penile urethra and female urethra: Tumor invades any of the following: corpus cavernosum, anterior vagina. For prostatic urethra: Tumor invades the periprostatic fat. N0: No regional lymph node metastasis. N1: Single regional lymph node metastasis in the inguinal region or true pelvis [perivesical, obturator, internal (hypogastric) and external iliac], or presacral lymph node. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4553581|Stage III includes: T3, N0, M0. T3: Uterine corpus carcinoma or carcinosarcoma with tumor involving serosa, adnexa, vagina, or parametrium. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th Ed.)|NCI|N|
C4553582|Stage III includes: (T1-T3, N1, M0); (T3, N0, M0). T1: Tumor confined to the vagina. T2: Tumor invading paravaginal tissues but not to pelvic sidewall. T3: Tumor extending to the pelvic sidewall and/or involving the lower third of the vagina and/or causing hydronephrosis or nonfunctioning kidney. N0: No regional lymph node metastasis. N1: Pelvic or inguinal lymph node metastasis. M0: No distant metastasis. (AJCC 8th Ed.)|NCI|N|
C4553583|Stage IIIA includes: T3a, Any N, M0. T3a: Tumor involving the lower third of vagina but not extending to pelvic wall. M0: No distant metastasis. (AJCC 8th Ed.)|NCI|N|
C4553586|A disorder characterized by an exaggerated feeling of well-being which is disproportionate to events and stimuli.|NCI|N|
C4553589|A disorder characterized by laboratory test results that indicate an elevation in the concentration of triglyceride concentration in the blood.|NCI|N|
C4553617|Stage IV includes: IVA: T4, Any N, M0; IVB: Any T, Any N, M1. T4: Tumor invading the mucosa of the bladder or rectum and/or extending beyond the true pelvis (bullous edema is not sufficient evidence to classify a tumor as T4). M0: No distant metastasis. M1: Distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4553618|Stage IVA includes: T4, Any N, M0. T4: Tumor invading the mucosa of the bladder or rectum and/or extending beyond the true pelvis (bullous edema is not sufficient evidence to classify a tumor as T4). M0: No distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4553619|Stage IVB includes: Any T, Any N, M1. M1: Distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4553620|Stage I includes: T1, Any N, M0. T1: Tumor confined to uterus (extension to corpus should be disregarded). M0: No distant metastasis. (AJCC 8th Ed.)|NCI|N|
C4553630|The subject, who met eligibility criteria, was not assigned to an arm and was not treated.|NCI|N|
C4553639|A finding of damage to an artery.|NCI|N|
C4553640|A disorder characterized by an infectious process involving an artery.|NCI|N|
C4553641|A disorder characterized by accumulation of serous or hemorrhagic fluid in the peritoneal cavity.|NCI|N|
C4553642|A disorder characterized by a dysrhythmia without cardiac electrical activity. Typically, this is accompanied by cessation of the pumping function of the heart.|NCI|N|
C4553643|A disorder characterized by a dysrhythmia with a delay in the time required for the conduction of an electrical impulse through the atrioventricular (AV) node beyond 0.2 seconds; prolongation of the PR interval greater than 200 milliseconds.|NCI|N|
C4553645|A disorder characterized by signs and symptoms that resemble Cushing''s disease or syndrome: buffalo hump obesity, striations, adiposity, hypertension, diabetes, and osteoporosis, usually due to exogenous corticosteroids.|NCI|N|
C4553646|A disorder characterized by a bluish discoloration of the skin and/or mucous membranes.|NCI|N|
C4553647|A change in the amino acid residue at position 148 in the cyclin-dependent kinase inhibitor 2 protein where alanine has been replaced by threonine.|NCI|N|
C4553648|A change in the amino acid residue at position 147 in the cyclin-dependent kinase inhibitor 2 protein where alanine has been replaced by threonine.|NCI|N|
C4553651|A disorder characterized by ulceration or inflammation of the mucous membrane of the small intestine.|NCI|N|
C4553652|A disorder characterized by blockage of the normal flow of the intestinal contents of the small intestine.|NCI|N|
C4553653|A disorder characterized by a rupture in the small intestine wall.|NCI|N|
C4553654|A disorder characterized by an infectious process involving the small intestine.|NCI|N|
C4553656|A disorder characterized by a narrowing of the lumen of the rectum.|NCI|N|
C4553657|A disorder characterized by the involuntary expulsion of air from the nose.|NCI|N|
C4553658|A disorder characterized by a sensation of marked discomfort in the esophageal region.|NCI|N|
C4553659|A disorder characterized by laboratory test results that indicate a low concentration of glucose in the blood.|NCI|N|
C4553660|A disorder characterized by an inability to see clearly in dim light.|NCI|N|
C4553661|A disorder characterized by an infectious process involving soft tissues.|NCI|N|
C4553662|A disorder characterized by the presence of blood in a fallopian tube.|NCI|N|
C4553663|A disorder characterized by a sensation of marked discomfort in the rectal region.|NCI|N|
C4553664|A disorder characterized by a rupture in the rectal wall.|NCI|N|
C4553665|Stage IIIB includes: T3b, Any N, M0. T3b: extending to pelvic wall and/or causing hydronephrosis or nonfunctioning kidney. M0: No distant metastasis. (AJCC 8th Ed.)|NCI|N|
C4553666|Stage IIIB includes: T3b, N0/N1, M0. T3b: Fallopian tube cancer with macroscopic peritoneal metastasis beyond pelvis 2 cm or less in greatest dimension with or without metastasis to the retroperitoneal lymph nodes. N0: No regional lymph node metastasis. N1: Positive retroperitoneal lymph nodes only (histologically confirmed). M0: No distant metastasis. (AJCC 8th Ed.)|NCI|N|
C4553667|Stage IIIB includes: T3b, N0/N1, M0. T3b: Ovarian cancer with macroscopic peritoneal metastasis beyond pelvis 2 cm or less in greatest dimension with or without metastasis to the retroperitoneal lymph nodes. N0: No regional lymph node metastasis. N1: Positive retroperitoneal lymph nodes only (histologically confirmed). M0: No distant metastasis. (AJCC 8th Ed.)|NCI|N|
C4553668|Stage IIIB includes: T1-3, N2, M0. T1: Glans: Penile cancer with tumor invading lamina propria. Foreskin: Penile cancer with tumor invading dermis, lamina propria, or dartos fascia. Shaft: Penile cancer with tumor invading connective tissue between epidermis and corpora regardless of location. All sites with or without lymphovascular invasion or perineural invasion and is or is not high grade. T2: Penile cancer with tumor invading into corpus spongiosum (either glans or ventral shaft) with or without urethral invasion. T3: Penile cancer with tumor invading into corpora cavernosum (including tunica albuginea) with or without urethral invasion. N2: Penile cancer with three or more unilateral inguinal metastases or bilateral metastases. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4553669|Stage IIIB includes: T3b, N0/N1, M0. T3b: Primary peritoneal cancer with macroscopic peritoneal metastasis beyond pelvis 2 cm or less in greatest dimension with or without metastasis to the retroperitoneal lymph nodes. N0: No regional lymph node metastasis. N1: Positive retroperitoneal lymph nodes only (histologically confirmed). M0: No distant metastasis. (AJCC 8th Ed.)|NCI|N|
C4553670|Stage IIIB includes: T3b, N0, M0. T3b: Uterine corpus carcinoma or carcinosarcoma with vaginal involvement (direct extension or metastasis) or parametrial involvement. N0: No regional lymph node metastasis. M0: No distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4553671|Stage IIIA includes: IIIA1: T1/2, N1, M0; IIIA2: T3a, N0/N1, M0. T1: Fallopian tube cancer with tumor limited to fallopian tube(s). T2: Fallopian tube cancer with tumor involving fallopian tubes with pelvic extension below pelvic brim. T3a: Fallopian tube cancer with microscopic extrapelvic (above the pelvic brim) peritoneal involvement with or without positive retroperitoneal lymph nodes. N0: No regional lymph node metastasis. N1: Positive retroperitoneal lymph nodes only (histologically confirmed). M0: No distant metastasis. (AJCC 8th Ed.)|NCI|N|
C4553672|Stage IIIA includes: IIIA1: T1/2, N1, M0; IIIA2: T3a, N0/N1, M0. T1: Ovarian cancer with tumor limited to ovaries (one or both). T2: Ovarian cancer with tumor involving one or both ovaries with pelvic extension below pelvic brim. T3a: Ovarian cancer with microscopic extrapelvic (above the pelvic brim) peritoneal involvement with or without positive retroperitoneal lymph nodes. N0: No regional lymph node metastasis. N1: Positive retroperitoneal lymph nodes only (histologically confirmed). M0: No distant metastasis. (AJCC 8th Ed.)|NCI|N|
C4553673|Stage IIIA includes: T1-3, N1, M0. T1: Glans: Penile cancer with tumor invading lamina propria. Foreskin: Penile cancer with tumor invading dermis, lamina propria, or dartos fascia. Shaft: Penile cancer with tumor invading connective tissue between epidermis and corpora regardless of location. All sites with or without lymphovascular invasion or perineural invasion and is or is not high grade. T2: Penile cancer with tumor invading into corpus spongiosum (either glans or ventral shaft) with or without urethral invasion. T3: Penile cancer with tumor invading into corpora cavernosum (including tunica albuginea) with or without urethral invasion. N1: Penile cancer with two or less unilateral inguinal metastases, no extranodal extension. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4553674|Stage IIIA includes: T3a, N0/N1, M0. T3a: Primary peritoneal cancer with microscopic extrapelvic (above the pelvic brim) peritoneal involvement with or without positive retroperitoneal lymph nodes. N0: No regional lymph node metastasis. N1: Positive retroperitoneal lymph nodes only (histologically confirmed). M0: No distant metastasis. (AJCC 8th Ed.)|NCI|N|
C4553675|Stage IIIA includes: T3a, N0, M0. T3a: Uterine corpus carcinoma or carcinosarcoma with tumor involving the serosa and/or adnexa (direct extension or metastasis). N0: No regional lymph node metastasis. M0: No distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4553676|A disorder characterized by a sensation of marked discomfort in the uterus.|NCI|N|
C4553677|A disorder characterized by a rupture in the uterine wall.|NCI|N|
C4553679|A finding of leakage due to breakdown of a vaginal anastomosis (surgical connection of two separate anatomic structures).|NCI|N|
C4553680|Vaginal cancer with tumor confined to the vagina, measuring more than 2.0 cm. (from AJCC 8th Ed.)|NCI|N|
C4553681|Vaginal cancer with tumor confined to the vagina. (from AJCC 8th Ed.)|NCI|N|
C4553682|Vaginal cancer with tumor confined to the vagina, measuring 2.0 cm or less. (from AJCC 8th Ed.)|NCI|N|
C4553683|Vaginal cancer with tumor invading paravaginal tissues but not to pelvic sidewall. (from AJCC 8th Ed.)|NCI|N|
C4553684|Vaginal cancer with tumor invading paravaginal tissues but not to pelvic wall, measuring more than 2.0 cm. (from AJCC 8th Ed.)|NCI|N|
C4553685|Vaginal cancer with tumor invading paravaginal tissues but not to pelvic wall, measuring 2.0 cm or less. (from AJCC 8th Ed.)|NCI|N|
C4553686|Vaginal cancer with pelvic or inguinal lymph node metastasis. (from AJCC 8th Ed.)|NCI|N|
C4553687|Vaginal cancer with tumor extending to the pelvic sidewall and/or involving the lower third of the vagina and/or causing hydronephrosis or nonfunctioning kidney. Pelvic sidewall is defined as the muscle, fascia, neurovascular structures, or skeletal portions of the bony pelvis. (from AJCC 8th Ed.)|NCI|N|
C4553693|Stage IV includes: IVA: T4, Any N, M0; IVB: Any T, Any N, M1. T4: Tumor invading the mucosa of the bladder or rectum, and/or extending beyond the true pelvis (bullous edema is not sufficient to classify a tumor as T4). M0: No distant metastasis. M1: Distant metastasis (including peritoneal spread or involvement of the supraclavicular, mediastinal, or distant lymph nodes; lung; liver; or bone). (from AJCC 8th Ed.)|NCI|N|
C4553694|Stage IVA includes: T4, Any N, M0. T4: Tumor invading the mucosa of the bladder or rectum, and/or extending beyond the true pelvis (bullous edema is not sufficient to classify a tumor as T4). M0: No distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4553695|Stage IVB includes: Any T, Any N, M1. M1: Distant metastasis (including peritoneal spread or involvement of the supraclavicular, mediastinal, or distant lymph nodes; lung; liver; or bone). (from AJCC 8th Ed.)|NCI|N|
C4553696|Stage IIIC includes: IIIC1: T1-T3, N1/N1mi/N1a, M0; IIIC2: T1-T3, N2/N2mi/N2a, M0. T1: Uterine corpus carcinoma or carcinosarcoma with tumor confined to the corpus uteri, including endocervical glandular involvement. T2: Uterine corpus carcinoma or carcinosarcoma with tumor invading the stromal connective tissue of the cervix but not extending beyond the uterus. Does not include endocervical glandular involvement. T3: Uterine corpus carcinoma or carcinosarcoma with tumor involving serosa, adnexa, vagina, or parametrium. N1: Regional lymph node metastasis to pelvic lymph nodes. N1mi: Regional lymph node metastasis (greater than 0.2 mm but nor greater than 2.0 mm in diameter) to pelvic lymph nodes. N1a: Regional lymph node metastasis (greater than 2.0 mm in diameter) to pelvic lymph nodes. N2: Regional lymph node metastasis to para-aortic lymph nodes, with or without positive pelvic lymph nodes. N2mi: Regional lymph node metastasis (greater than 0.2 mm but not greater than 2.0 mm in diameter) to para-aortic lymph nodes, with or without positive pelvic lymph nodes. N2a: Regional lymph node metastasis (greater than 2.0 mm in diameter) to para-aortic lymph nodes, with or without positive pelvic lymph nodes. M0: No distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4553697|Stage IIIC1 includes: T1-T3, N1/N1mi/N1a, M0. T1: Uterine corpus carcinoma or carcinosarcoma with tumor confined to the corpus uteri, including endocervical glandular involvement. T2: Uterine corpus carcinoma or carcinosarcoma with tumor invading the stromal connective tissue of the cervix but not extending beyond the uterus. Does not include endocervical glandular involvement. T3: Uterine corpus carcinoma or carcinosarcoma with tumor involving serosa, adnexa, vagina, or parametrium. N1: Regional lymph node metastasis to pelvic lymph nodes. N1mi: Regional lymph node metastasis (greater than 0.2 mm but nor greater than 2.0 mm in diameter) to pelvic lymph nodes. N1a: Regional lymph node metastasis (greater than 2.0 mm in diameter) to pelvic lymph nodes. M0: No distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4553698|Stage IIIC2 includes: T1-T3, N2/N2mi/N2a, M0. T1: Uterine corpus carcinoma or carcinosarcoma with tumor confined to the corpus uteri, including endocervical glandular involvement. T2: Uterine corpus carcinoma or carcinosarcoma with tumor invading the stromal connective tissue of the cervix but not extending beyond the uterus. Does not include endocervical glandular involvement. T3: Uterine corpus carcinoma or carcinosarcoma with tumor involving serosa, adnexa, vagina, or parametrium. N2: Regional lymph node metastasis to para-aortic lymph nodes, with or without positive pelvic lymph nodes. N2mi: Regional lymph node metastasis (greater than 0.2 mm but not greater than 2.0 mm in diameter) to para-aortic lymph nodes, with or without positive pelvic lymph nodes. N2a: Regional lymph node metastasis (greater than 2.0 mm in diameter) to para-aortic lymph nodes, with or without positive pelvic lymph nodes. M0: No distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4553699|Stage IV includes: IVA: T4, Any N, M0; IVB: Any T, Any N, M1. T4: Uterine corpus carcinoma or carcinosarcoma with tumor invading the bladder mucosa and/or bowel mucosa (bullous edema is not sufficient to classify a tumor as T4). M0: No distant metastasis. M1: Distant metastasis (includes metastasis to inguinal lymph nodes, intraperitoneal disease, lung, liver, or bone. It excludes metastasis to pelvic or para-aortic lymph nodes, vagina, uterine serosa, or adnexa). (from AJCC 8th Ed.)|NCI|N|
C4553700|Stage IVA includes: T4, Any N, M0. T4: Uterine corpus carcinoma or carcinosarcoma with tumor invading the bladder mucosa and/or bowel mucosa (bullous edema is not sufficient to classify a tumor as T4). M0: No distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4553701|Stage IVB includes: Any T, Any N, M1. M1: Distant metastasis (includes metastasis to inguinal lymph nodes, intraperitoneal disease, lung, liver, or bone. It excludes metastasis to pelvic or para-aortic lymph nodes, vagina, uterine serosa, or adnexa). (from AJCC 8th Ed.)|NCI|N|
C4553702|Stage IIIC includes: T3c, N0/N1, M0. T3c: Ovarian cancer with macroscopic peritoneal metastasis beyond the pelvis more than 2 cm in greatest dimension with or without metastasis to the retroperitoneal lymph nodes (includes extension of tumor to capsule of liver and spleen without parenchymal involvement of either organ). N0: No regional lymph node metastasis. N1: Positive retroperitoneal lymph nodes only (histologically confirmed). M0: No distant metastasis. (AJCC 8th Ed.)|NCI|N|
C4553703|Stage IV includes: Any T, Any N, M1: M1: Distant metastasis, including pleural effusion with positive cytology; liver or splenic parenchymal metastasis; metastasis to extra-abdominal organs (including inguinal lymph nodes and lymph nodes outside the abdominal cavity); and transmural involvement of intestine. (from AJCC 8th Ed.)|NCI|N|
C4553704|Stage I includes: T1, N0, M0. T1: Fallopian tube cancer with tumor limited to fallopian tube(s). N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th Ed.)|NCI|N|
C4553718|A disorder characterized by loss of function or tissue destruction of an organ or multiple organs, arising from humoral or cellular immune responses of the individual to his own tissue constituents.|NCI|N|
C4553720|A disorder characterized by abnormal, repetitive, involuntary muscle movements, frenzied speech and extreme restlessness.|NCI|N|
C4553721|A disorder characterized by an infectious process involving the eye.|NCI|N|
C4553722|A disorder characterized by a sensation of marked discomfort in the eye.|NCI|N|
C4553723|A disorder characterized by a reduction in the strength of the facial muscles.|NCI|N|
C4553724|A disorder characterized by dysfunction of the facial nerve (seventh cranial nerve).|NCI|N|
C4553726|A finding of sudden movement downward, usually resulting in injury.|NCI|N|
C4553727|A finding of leakage due to breakdown of a fallopian tube anastomosis (surgical connection of two separate anatomic structures).|NCI|N|
C4553728|A disorder characterized by blockage of the normal flow of the contents in the fallopian tube.|NCI|N|
C4553729|A disorder characterized by a rupture of the fallopian tube wall.|NCI|N|
C4553731|A disorder characterized by inflammation of the bladder which is not caused by an infection of the urinary tract.|NCI|N|
C4553735|A disorder characterized by sexual dysfunction characterized by a delay in climax.|NCI|N|
C4553736|A disorder characterized by neck stiffness, headache, and photophobia resulting from irritation of the cerebral meninges.|NCI|N|
C4553737|A disorder characterized by abnormally heavy vaginal bleeding during menses.|NCI|N|
C4553739|A disorder characterized by a necrotic process occurring in the soft tissues of the upper extremity.|NCI|N|
C4553740|A disorder characterized by characterized by excessive sleepiness and drowsiness.|NCI|N|
C4553743|A disorder characterized by increased involuntary muscle tone that affects the regions interfering with voluntary movement. It results in gait, movement, and speech disturbances.|NCI|N|
C4553744|A disorder characterized by blockage of the normal flow of the contents of the spermatic cord.|NCI|N|
C4553745|Stage IIIC includes: T3c, N0/N1, M0. T3c: Fallopian tube cancer with macroscopic peritoneal metastasis beyond the pelvis more than 2 cm in greatest dimension with or without metastasis to the retroperitoneal lymph nodes (includes extension of tumor to capsule of liver and spleen without parenchymal involvement of either organ). N0: No regional lymph node metastasis. N1: Positive retroperitoneal lymph nodes only (histologically confirmed). M0: No distant metastasis. (AJCC 8th Ed.)|NCI|N|
C4553746|Stage IIIC includes: T3c, N0/N1, M0. T3c: Primary peritoneal cancer with macroscopic peritoneal metastasis beyond the pelvis more than 2 cm in greatest dimension with or without metastasis to the retroperitoneal lymph nodes (includes extension of tumor to capsule of liver and spleen without parenchymal involvement of either organ). N0: No regional lymph node metastasis. N1: Positive retroperitoneal lymph nodes only (histologically confirmed). M0: No distant metastasis. (AJCC 8th Ed.)|NCI|N|
C4553747|Stage IV includes: Any T, Any N, M1. M1: Distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4553748|Stage IV includes: IVA: (T4b, N0, M0); (Any T, Any N, M1a); IVB: (Any T, Any N, M1b). T4b: Extravesical tumor invades pelvic wall, abdominal wall. N0: No regional lymph node metastasis. M0: No distant metastasis. M1a: Distant metastasis limited to lymph nodes beyond the common iliacs. M1b: Non-lymph node distant metastases. (AJCC 8th ed.)|NCI|N|
C4553749|Stage IV includes: Any T, Any N, M1: M1: Distant metastasis, including pleural effusion with positive cytology; liver or splenic parenchymal metastasis; metastasis to extra-abdominal organs (including inguinal lymph nodes and lymph nodes outside the abdominal cavity); and transmural involvement of intestine. (from AJCC 8th Ed.)|NCI|N|
C4553750|Stage IV includes: (T4, Any N, M0); (Any T, N3, M0); (Any T, Any N, M1). T4: Penile cancer with tumor invading into adjacent structures (i.e., scrotum, prostate, pubic bone). N3: Penile cancer with extranodal extension of lymph node metastases or pelvic lymph node metastases. M1: Distant metastasis present. (AJCC 8th ed.)|NCI|N|
C4553751|Stage IV includes: Any T, Any N, M1: M1: Distant metastasis, including pleural effusion with positive cytology; liver or splenic parenchymal metastasis; metastasis to extra-abdominal organs (including inguinal lymph nodes and lymph nodes outside the abdominal cavity); and transmural involvement of intestine. (from AJCC 8th Ed.)|NCI|N|
C4553752|Stage IV includes: IVA: Any T, N1, M0, PSA: Any, Grade Group: Any; IVB: Any T, N0, M1, PSA: Any, Grade Group: Any. N0: Prostate cancer with no positive regional nodes. N1: Prostate cancer with metastases in regional node(s). M0: Prostate cancer without evidence of distant metastasis. M1: Prostate cancer with distant metastasis. (AJCC 8th ed.)|NCI|N|
C4553753|Stage IV includes: (T4, Any N, M0); (Any T, Any N, M1). T4: Tumor invading beyond Gerota''s fascia (including contiguous extension into the ipsilateral adrenal gland). M0: No distant metastasis. M1: Distant metastasis. (AJCC 8th ed.)|NCI|N|
C4553754|A disorder characterized by an uncomfortable feeling of itching and burning in the vagina.|NCI|N|
C4553755|A disorder characterized by an infectious process involving the vagina.|NCI|N|
C4553756|A disorder characterized by blockage of vaginal canal.|NCI|N|
C4553757|A disorder characterized by a sensation of marked discomfort in the vagina.|NCI|N|
C4553758|A disorder characterized by a rupture in the vaginal wall.|NCI|N|
C4553759|A disorder characterized by a narrowing of the vaginal canal.|NCI|N|
C4553761|A finding of leakage due to breakdown of a vas deferens anastomosis (surgical connection of two separate anatomic structures).|NCI|N|
C4553762|A finding of a previously undocumented problem related to the vascular access site.|NCI|N|
C4553763|A disorder characterized by a sudden drop of the blood pressure, bradycardia, and peripheral vasodilation that may lead to loss of consciousness. It results from an increase in the stimulation of the vagus nerve.|NCI|N|
C4553764|A disorder characterized by a dysrhythmia that originates in the ventricles.|NCI|N|
C4553765|A disorder characterized by a deterioration in memory function.|NCI|N|
C4553767|A disorder characterized by a queasy sensation and/or the urge to vomit.|NCI|N|
C4553780|Stage 0 includes: 0is: Tis, N0, M0; 0a: Ta, N0, M0. Tis: Penile cancer with a finding of carcinoma in situ (penile intraepithelial neoplasia [PeIN]). Ta: Penile cancer with a finding of noninvasive localized squamous cell carcinoma. N0: No lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4553781|Stage 0a includes: Ta, N0, M0. Ta: Papillary noninvasive carcinoma. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4553782|Stage 0a includes: Ta, N0, M0. Ta: Papillary noninvasive carcinoma. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4553783|Stage 0a includes: Ta, N0, M0. Ta: Papillary noninvasive carcinoma. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4553784|Stage 0is includes: Tis, N0, M0. Tis: Carcinoma in situ. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4553785|Stage 0is includes: Tis, N0, M0. Tis: Carcinoma in situ. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4553786|Stage 0is includes: Tis, N0, M0. Tis: Carcinoma in situ. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4553787|Stage IV includes: (T4, N0, M0); (Any T, N1, M0); (Any T, N2, M0); (Any T, Any N, M1). T4: Tumor invades adjacent organs, or through the kidney into the perinephric fat. N0: No regional lymph node metastasis. N1: Metastasis in a single lymph node, 2 cm or less in greatest dimension. N2: Metastasis in a single lymph node, more than 2 cm in greatest dimension; or multiple lymph nodes. M0: No distant metastasis. M1: Distant metastasis. (AJCC 8th ed.)|NCI|N|
C4553788|Stage IV includes: (T4, N0, M0); (Any T, N1, M0); (Any T, N2, M0); (Any T, Any N, M1). T4: Tumor invades adjacent organs, or through the kidney into the perinephric fat. N0: No regional lymph node metastasis. N1: Metastasis in a single lymph node, 2 cm or less in greatest dimension. N2: Metastasis in a single lymph node, more than 2 cm in greatest dimension; or multiple lymph nodes. M0: No distant metastasis. M1: Distant metastasis. (AJCC 8th ed.)|NCI|N|
C4553789|Stage IV includes: (T4, N0, M0); (Any T, N1, M0); (Any T, N2, M0); (Any T, Any N, M1). T4: Tumor invades adjacent organs, or through the kidney into the perinephric fat. N0: No regional lymph node metastasis. N1: Metastasis in a single lymph node, 2 cm or less in greatest dimension. N2: Metastasis in a single lymph node, more than 2 cm in greatest dimension; or multiple lymph nodes. M0: No distant metastasis. M1: Distant metastasis. (AJCC 8th ed.)|NCI|N|
C4553790|Stage 0a includes: Ta, N0, M0. Ta: Non-invasive papillary carcinoma. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4553791|Stage 0is includes: Tis, N0, M0. Tis: Urothelial carcinoma in situ: ""flat tumor"". N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4553819|A disorder characterized by an ANC <1000/mm3 and a single temperature of >38.3 degrees C (101 degrees F) or a sustained temperature of >=38 degrees C (100.4 degrees F) for more than one hour|NCI|N|
C4553820|A disorder characterized by inability to control the escape of stool from the rectum.|NCI|N|
C4553822|A disorder characterized by the development of secondary female sex characteristics in males due to extrinsic factors.|NCI|N|
C4553823|A disorder characterized by false personal beliefs held contrary to reality, despite contradictory evidence and common sense.|NCI|N|
C4553824|A disorder characterized by the decay of a tooth, in which it becomes softened, discolored and/or porous.|NCI|N|
C4553826|A disorder characterized by a decrease in ability to perceive and respond.|NCI|N|
C4553829|A disorder characterized by an infectious process involving the use of a medical device.|NCI|N|
C4553830|A disorder characterized by a disturbing sensation of lightheadedness, unsteadiness, giddiness, spinning or rocking.|NCI|N|
C4553831|A disorder characterized by inflammation (physiologic response to irritation), swelling and redness to the middle ear.|NCI|N|
C4553832|A disorder characterized by a defect in mitral valve function or structure.|NCI|N|
C4553835|A disorder characterized by harsh and raspy voice arising from or spreading to the larynx.|NCI|N|
C4553836|A disorder characterized by pressure on the spinal cord.|NCI|N|
C4553837|A finding of traumatic injury to the spine in which the continuity of a vertebral bone is broken.|NCI|N|
C4553844|Stage IV includes: IVA: 55 years and older: T4b, Any N, M0; IVB: 55 years and older: Any T, Any N, M1. T4b: Gross extrathyroidal extension invading prevertebral fascia or encasing the carotid artery or mediastinal vessels from a tumor of any size. M0: No distant metastasis. M1: Distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4553845|Stage IV includes: IVA: (T4a, Any N, M0); (T1-3, N1b, M0); IVB: (T4b, Any N, M0); IVC: (Any T, Any N, M1). T1: Tumor measuring 2 cm or less in greatest dimension limited to the thyroid. T2: Tumor measuring more than 2 cm but less than 4 cm in greatest dimension limited to the thyroid. T3: Tumor measuring 4 cm or more in greatest dimension or with extrathyroidal extension. T4a: Moderately advanced disease; tumor of any size with gross extrathyroidal extension into the nearby tissues of the neck, including subcutaneous soft tissue, larynx, trachea, esophagus, or recurrent laryngeal nerve. T4b: Very advanced disease; tumor of any size with extension towards the spine or into nearby large blood vessels, invading the prevertebral fascia, or encasing the carotid artery or mediastinal vessels. N1b: Metastasis to unilateral, bilateral, or contralateral lateral neck lymph nodes levels I, II, III, IV, or V or retropharyngeal lymph nodes. M0: No distant metastasis. M1: Distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4553846|Stage IV includes: IVA: 55 years and older: T4b, Any N, M0; IVB: 55 years and older: Any T, Any N, M1. T4b: Gross extrathyroidal extension invading prevertebral fascia or encasing the carotid artery or mediastinal vessels from a tumor of any size. M0: No distant metastasis. M1: Distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4553847|Stage IV includes: (T4, N0, M0); (T4, N1, M0); (Any T, N2, M0); (Any T, Any N, M1). T4: For male penile urethra and female urethra: Tumor invades other adjacent organs (e.g., invasion of the bladder wall). For prostatic urethra: Tumor invades other adjacent organs (e.g., extraprostatic invasion of the bladder wall, rectal wall). N0: No regional lymph node metastasis. N1: Single regional lymph node metastasis in the inguinal region or true pelvis [perivesical, obturator, internal (hypogastric) and external iliac], or presacral lymph node. N2: Multiple regional lymph node metastasis in the inguinal region or true pelvis [perivesical, obturator, internal (hypogastric) and external iliac], or presacral lymph node. M0: No distant metastasis. M1: Distant metastasis. (AJCC 8th ed.)|NCI|N|
C4553848|Stage IVA includes: (T4b, N0, M0); (Any T, Any N, M1a). T4b: Extravesical tumor invades pelvic wall, abdominal wall. N0: No regional lymph node metastasis. M0: No distant metastasis. M1a: Distant metastasis limited to lymph nodes beyond the common iliacs. (AJCC 8th ed.)|NCI|N|
C4553849|A disorder characterized by metabolic abnormalities that result from a spontaneous or therapy-related cytolysis of tumor cells.|NCI|N|
C4553850|A disorder characterized by a sensation of marked discomfort from a neoplasm that may be pressing on a nerve, blocking blood vessels, inflamed or fractured from metastasis.|NCI|N|
C4553851|A disorder characterized by necrotizing enterocolitis in neutropenic patients.|NCI|N|
C4553852|A disorder characterized by a decrease in blood supply due to narrowing or blockage of a visceral (mesenteric) artery.|NCI|N|
C4553853|A disorder characterized by a decrease in visual acuity.|NCI|N|
C4553854|A disorder characterized by bleeding into the vitreous humor.|NCI|N|
C4553869|Stage I includes: T1, N0, M0. T1: Tumor invades lamina propria (subepithelial connective tissue). N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4553870|Stage IVB includes: Any T, Any N, M1b. M1b: Non-lymph node distant metastases. (AJCC 8th ed.)|NCI|N|
C4553871|Stage 0a includes: Ta, N0, M0. Ta: For male penile urethra and female urethra: Non-invasive papillary carcinoma. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4553872|Stage 0is includes: Tis, N0, M0. Tis: For male penile urethra and female urethra: Carcinoma in situ. For prostatic urethra: Carcinoma in situ involving the prostatic urethra or periurethral or prostatic ducts without stromal invasion. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4553873|Stage I includes: Under 55 years: Any T, Any N, M0. 55 years and older: (T1, N0/NX, M0); (T2, N0/NX, M0). T1: Tumor measuring 2 cm or less in greatest dimension limited to the thyroid. T2: Tumor measuring more than 2 cm but 4 cm or less in greatest dimension limited to the thyroid. N0: No evidence of locoregional lymph node metastasis. NX: Regional lymph nodes cannot be assessed. M0: No distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4553874|Stage IVA includes: 55 years and older: T4b, Any N, M0. T4b: Gross extrathyroidal extension invading prevertebral fascia or encasing the carotid artery or mediastinal vessels from a tumor of any size. M0: No distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4553875|Stage IVB includes: 55 years and older: Any T, Any N, M1. M1: Distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4553876|Stage IVA includes: 55 years and older: T4b, Any N, M0. T4b: Gross extrathyroidal extension invading prevertebral fascia or encasing the carotid artery or mediastinal vessels from a tumor of any size. M0: No distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4553877|Stage IVB includes: 55 years and older: Any T, Any N, M1. M1: Distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4553878|Stage IVA includes: 55 years and older: T4b, Any N, M0. T4b: Gross extrathyroidal extension invading prevertebral fascia or encasing the carotid artery or mediastinal vessels from a tumor of any size. M0: No distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4553879|Stage IVB includes: 55 years and older: Any T, Any N, M1. M1: Distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4553880|Stage IVA includes: T1-T3a, N0/NX, M0. T1: Tumor measuring 2 cm or less in greatest dimension limited to the thyroid. T2: Tumor measuring more than 2 cm but 4 cm or less in greatest dimension limited to the thyroid. T3a: Tumor measuring more than 4 cm in greatest dimension limited to the thyroid. N0: No evidence of locoregional lymph node metastasis. NX: Regional lymph nodes cannot be assessed. M0: No distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4553881|Stage IVB includes: (T1-T3a, N1, M0); (T3b, Any N, M0); (T4, Any N, M0). T1: Tumor measuring 2 cm or less in greatest dimension limited to the thyroid. T2: Tumor measuring more than 2 cm but 4 cm or less in greatest dimension limited to the thyroid. T3a: Tumor measuring more than 4 cm in greatest dimension limited to the thyroid. T3b: Gross extrathyroidal extension invading only strap muscles (sternohyoid, sternothyroid, thyrohyoid, or omohyoid muscles) from a tumor of any size. T4: Tumor of any size with gross extrathyroidal extension. N1: Metastasis to regional nodes. M0: No distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4553882|Stage IVC includes: Any T, Any N, M1. M1: Distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4553883|Stage IVA includes: (T4a, Any N, M0); (T1-3, N1b, M0). T1: Tumor measuring 2 cm or less in greatest dimension limited to the thyroid. T2: Tumor measuring more than 2 cm but less than 4 cm in greatest dimension limited to the thyroid. T3: Tumor measuring 4 cm or more in greatest dimension or with extrathyroidal extension. T4a: Moderately advanced disease; tumor of any size with gross extrathyroidal extension into the nearby tissues of the neck, including subcutaneous soft tissue, larynx, trachea, esophagus, or recurrent laryngeal nerve. N1b: Metastasis to unilateral, bilateral, or contralateral lateral neck lymph nodes levels I, II, III, IV, or V or retropharyngeal lymph nodes. M0: No distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4553884|Stage IVB includes: T4b, Any N, M0. T4b: Very advanced disease; tumor of any size with extension towards the spine or into nearby large blood vessels, invading the prevertebral fascia, or encasing the carotid artery or mediastinal vessels. M0: No distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4553885|Stage IVC includes: Any T, Any N, M1. M1: Distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4553886|Stage I includes: T1, N0, M0. T1: Tumor measuring 5 cm or less in greatest dimension, with no extra-adrenal invasion. N0: No regional lymph node metastasis. M0: No distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4553889|A rare genetic heart-hand syndrome with characteristics of typical manifestations of the Carney complex (spotty pigmentation of the skin, familial cardiac and cutaneous myxomas and endocrinopathy) associated with trismus and distal arthrogryposis (presenting as involuntary contraction of distal and proximal interphalangeal joints of hands evident only on dorsiflexion of wrist and similar lower-limb contractures producing foot deformities).|SNOMEDCT_US|N|
C4553897|A disorder characterized by dryness of the cornea and conjunctiva.|NCI|N|
C4553898|A disorder characterized by reduced salivary flow in the oral cavity.|NCI|N|
C4553899|A disorder characterized by blockage of the normal flow of stomach contents through the duodenum.|NCI|N|
C4553900|A disorder characterized by a rupture in the duodenal wall.|NCI|N|
C4553901|A disorder characterized by a narrowing of the lumen of the duodenum.|NCI|N|
C4553903|A disorder characterized by slow and slurred speech resulting from an inability to coordinate the muscles used in speech.|NCI|N|
C4553904|A disorder characterized by abnormally painful abdominal cramps during menses.|NCI|N|
C4553908|A disorder characterized by swelling due to an accumulation of excessive fluid in the neck.|NCI|N|
C4553909|A disorder characterized by a sensation of marked discomfort in the neck area.|NCI|N|
C4553910|A disorder characterized by symptoms that include severe edema, proteinuria, and hypoalbuminemia; it is indicative of renal dysfunction.|NCI|N|
C4553914|A disorder characterized by a discrepancy between the lengths of the lower or upper extremities.|NCI|N|
C4553915|An adverse drug reaction, whose nature, severity, specificity, or outcome is not consistent with the term or description used in the applicable product information (e.g., IB for an unapproved investigational product or PI/summary of product characteristics for an approved product, and/or scientific literature). (ICH)|NCI|N|
C4553916|A disorder characterized by blockage of the normal flow of the contents of the intestinal stoma.|NCI|N|
C4553917|A finding of damage to the urinary system during a surgical procedure.|NCI|N|
C4553918|A disorder characterized by bleeding from the upper gastrointestinal tract (oral cavity, pharynx, esophagus, and stomach).|NCI|N|
C4553919|A disorder characterized by a blood clot and inflammation involving a superficial vein of the extremities.|NCI|N|
C4553920|A disorder characterized by an infectious process involving the urethra.|NCI|N|
C4553922|A disorder characterized by an abnormal communication between any part of the urinary system and another organ or anatomic site.|NCI|N|
C4553923|A disorder characterized by urination at short intervals.|NCI|N|
C4553924|A disorder characterized by inability to control the flow of urine from the bladder.|NCI|N|
C4553925|A disorder characterized by a high-pitched, whistling sound during breathing. It results from the narrowing or obstruction of the respiratory airways.|NCI|N|
C4553926|A disorder characterized by an infectious process involving the wound.|NCI|N|
C4553927|A finding of traumatic injury to the wrist joint in which the continuity of a wrist bone is broken.|NCI|N|
C4553944|A disorder characterized by laboratory test results that indicate complete absence of spermatozoa in the semen.|NCI|N|
C4553945|A disorder characterized by a sensation of marked discomfort in the back region.|NCI|N|
C4553946|A disorder characterized by the presence of bacteria in the blood stream.|NCI|N|
C4553950|A disorder characterized by a group of symptoms similar to those observed in patients with the flu. It includes fever, chills, body aches, malaise, loss of appetite and dry cough.|NCI|N|
C4553951|A finding based on test results that indicate a relative decrease in the fraction of the forced vital capacity that is exhaled in a specific number of seconds.|NCI|N|
C4553953|A disorder characterized by the presence of fungus in the blood stream.|NCI|N|
C4553954|A disorder characterized by impairment of verbal communication skills, often resulting from brain damage.|NCI|N|
C4553955|A disorder characterized by painful urination.|NCI|N|
C4553957|A disorder characterized by skin which becomes itchy, red, inflamed, crusty, thick, scaly, and/or forms blisters.|NCI|N|
C4553959|A disorder characterized by swelling due to an excessive accumulation of fluid in the brain.|NCI|N|
C4553960|A disorder characterized by swelling due to excessive fluid accumulation in facial tissues.|NCI|N|
C4553961|A disorder characterized by swelling due to excessive fluid accumulation in the trunk area.|NCI|N|
C4553962|A disorder characterized by a thickening of the outer layer of the skin.|NCI|N|
C4553963|A disorder characterized by an increase in production of parathyroid hormone by the parathyroid glands. This results in hypercalcemia (abnormally high levels of calcium in the blood).|NCI|N|
C4553964|A disorder characterized by characterized by excessive sleepiness during the daytime.|NCI|N|
C4553965|A disorder characterized by dysfunction of the hypoglossal nerve (twelfth cranial nerve).|NCI|N|
C4553966|A disorder characterized by laboratory test results that indicate a low concentration of potassium in the blood.|NCI|N|
C4553967|A disorder characterized by laboratory test results that indicate a low concentration of sodium in the blood.|NCI|N|
C4553968|A disorder characterized by inflammation and cellular infiltration of the pituitary gland.|NCI|N|
C4553969|A disorder characterized by a decrease in production of hormones from the pituitary gland.|NCI|N|
C4553970|A disorder characterized by a malformation of the nipple.|NCI|N|
C4553971|A disorder characterized by a sensation of marked discomfort in the chest unrelated to a heart disorder.|NCI|N|
C4553975|A disorder characterized by a sensation of marked discomfort in the urinary tract.|NCI|N|
C4553976|A disorder characterized by a sudden compelling urge to urinate.|NCI|N|
C4553977|A finding based on test results that indicate urine production is less relative to previous output.|NCI|N|
C4553978|A finding of leakage of contents from a urostomy.|NCI|N|
C4553979|A disorder characterized by bleeding from the urostomy site.|NCI|N|
C4553980|A finding of narrowing of the opening of a urostomy.|NCI|N|
C4553982|Uterine corpus adenosarcoma with distant metastasis (excluding adnexa, pelvic, and abdominal tissues). (from AJCC 8th Ed.)|NCI|N|
C4553983|Uterine corpus adenosarcoma with distant metastasis (excluding adnexa, pelvic, and abdominal tissues). (from AJCC 8th Ed.)|NCI|N|
C4553984|Uterine corpus carcinoma or carcinosarcoma with regional lymph node metastasis (greater than 2.0 mm in diameter) to pelvic lymph nodes. (from AJCC 8th Ed.)|NCI|N|
C4553985|Uterine corpus carcinoma or carcinosarcoma with regional lymph node metastasis (greater than 0.2 mm but nor greater than 2.0 mm in diameter) to pelvic lymph nodes. (from AJCC 8th Ed.)|NCI|N|
C4553986|Uterine corpus carcinoma or carcinosarcoma with regional lymph node metastasis to pelvic lymph nodes. (from AJCC 8th Ed.)|NCI|N|
C4553987|Uterine corpus carcinoma or carcinosarcoma with regional lymph node metastasis (greater than 2.0 mm in diameter) to para-aortic lymph nodes, with or without positive pelvic lymph nodes. (from AJCC 8th Ed.)|NCI|N|
C4553988|Uterine corpus carcinoma or carcinosarcoma with regional lymph node metastasis (greater than 0.2 mm but not greater than 2.0 mm in diameter) to para-aortic lymph nodes, with or without positive pelvic lymph nodes. (from AJCC 8th Ed.)|NCI|N|
C4553989|Uterine corpus carcinoma or carcinosarcoma with regional lymph node metastasis to para-aortic lymph nodes, with or without positive pelvic lymph nodes. (from AJCC 8th Ed.)|NCI|N|
C4553990|Uterine corpus carcinoma or carcinosarcoma with distant metastasis (includes metastasis to inguinal lymph nodes, intraperitoneal disease, lung, liver, or bone. It excludes metastasis to pelvic or para-aortic lymph nodes, vagina, uterine serosa, or adnexa). (from AJCC 8th Ed.)|NCI|N|
C4553991|Uterine corpus carcinoma or carcinosarcoma with distant metastasis (includes metastasis to inguinal lymph nodes, intraperitoneal disease, lung, liver, or bone. It excludes metastasis to pelvic or para-aortic lymph nodes, vagina, uterine serosa, or adnexa). (from AJCC 8th Ed.)|NCI|N|
C4553992|Uterine corpus leiomyosarcoma or endometrial stromal sarcoma with distant metastasis (excluding adnexa, pelvic, and abdominal tissues). (from AJCC 8th Ed.)|NCI|N|
C4553993|Uterine corpus leiomyosarcoma or endometrial stromal sarcoma with distant metastasis (excluding adnexa, pelvic, and abdominal tissues). (from AJCC 8th Ed.)|NCI|N|
C4553994|A finding based on laboratory test results that indicate abnormal levels of gonadotrophin hormone in a blood specimen.|NCI|N|
C4553995|A finding based on laboratory test results that indicate abnormal levels of growth hormone in a biological specimen.|NCI|N|
C4554001|A disorder characterized by a dysrhythmia without discernible QRS complexes due to rapid repetitive excitation of myocardial fibers without coordinated contraction of the ventricles.|NCI|N|
C4554002|A disorder characterized by a sensation as if the external world were revolving around the patient (objective vertigo) or as if he himself were revolving in space (subjective vertigo).|NCI|N|
C4554010|Isomerism in the context of the congenitally malformed heart is defined as a situation where some paired structures on opposite sides of the left-right axis of the body are, in morphologic terms, symmetrical mirror images of each other.|HPO|N|
C4554013|A disorder characterized by a narrowing of the lumen of the bile duct.|NCI|N|
C4554015|A disorder characterized by a rupture in the bladder wall.|NCI|N|
C4554019|A disorder characterized by a necrotic process occurring in the gallbladder.|NCI|N|
C4554020|A disorder characterized by a sensation of marked discomfort in the gallbladder region.|NCI|N|
C4554021|A disorder characterized by a rupture in the gallbladder wall.|NCI|N|
C4554022|A finding of leakage due to breakdown of a gastric anastomosis (surgical connection of two separate anatomic structures).|NCI|N|
C4554023|A disorder characterized by an abnormal communication between the stomach and another organ or anatomic site.|NCI|N|
C4554024|A disorder characterized by a necrotic process occurring in the gastric wall.|NCI|N|
C4554025|A disorder characterized by a rupture in the stomach wall.|NCI|N|
C4554026|A disorder characterized by a narrowing of the lumen of the stomach.|NCI|N|
C4554027|A disorder characterized by an abnormal communication between any part of the gastrointestinal system and another organ or anatomic site.|NCI|N|
C4554028|A disorder characterized by problems related to ejaculation. This category includes premature, delayed, retrograde and painful ejaculation.|NCI|N|
C4554029|The percentage computed when the amount of blood ejected during a ventricular contraction of the heart is compared to the amount that was present prior to the contraction.|NCI|N|
C4554030|A disorder characterized by a pathologic process involving the brain.|NCI|N|
C4554031|A disorder characterized by an infectious process involving the endocardial layer of the heart.|NCI|N|
C4554032|A disorder characterized by inflammation of the small and large intestines.|NCI|N|
C4554033|A disorder characterized by an infectious process involving the small and large intestines.|NCI|N|
C4554034|A disorder characterized by an abnormal communication between the urinary bladder and the intestine.|NCI|N|
C4554036|A disorder characterized by involuntary movements of the eyeballs.|NCI|N|
C4554039|A disorder characterized by dysfunction of the olfactory nerve (first cranial nerve).|NCI|N|
C4554040|A disorder characterized by dysfunction of the glossopharyngeal nerve (ninth cranial nerve).|NCI|N|
C4554041|A finding of damage to a vein during a surgical procedure.|NCI|N|
C4554042|A disorder characterized by a narrowing of the lumen of the esophagus.|NCI|N|
C4554043|A disorder characterized by an abnormal communication between the oral cavity and another organ or anatomic site.|NCI|N|
C4554044|A disorder characterized by a burning or tingling sensation on the lips, tongue or entire mouth.|NCI|N|
C4554058|A disorder characterized by a sudden and involuntary contraction of the bladder wall.|NCI|N|
C4554059|A finding based on laboratory test results that indicate abnormal levels of antidiuretic hormone in the blood specimen.|NCI|N|
C4554060|A finding based on laboratory test results that indicate abnormal levels of prolactin hormone in a blood specimen.|NCI|N|
C4554061|A disorder characterized by an abnormal body smell resulting from the growth of bacteria on the body.|NCI|N|
C4554062|A disorder characterized by the inability of the bone marrow to produce hematopoietic elements.|NCI|N|
C4554063|A disorder characterized by a sensation of marked discomfort in the bones.|NCI|N|
C4554064|A disorder characterized by regional paresthesia of the brachial plexus, marked discomfort and muscle weakness, and limited movement in the arm or hand.|NCI|N|
C4554065|A brain glioblastoma that occurs during childhood.|NCI|N|
C4554066|A disorder characterized by a sensation of marked discomfort in the gastrointestinal region.|NCI|N|
C4554067|A disorder characterized by a necrotic process occurring in the gastrointestinal tract stoma.|NCI|N|
C4554069|Gestational trophoblastic neoplasm with lung metastasis. (from AJCC 8th Ed.)|NCI|N|
C4554070|Gestational trophoblastic neoplasm with lung metastasis. (from AJCC 8th Ed.)|NCI|N|
C4554071|Gestational trophoblastic neoplasm with all other distant metastases. (from AJCC 8th Ed.)|NCI|N|
C4554072|Gestational trophoblastic neoplasm with all other distant metastases. (from AJCC 8th Ed.)|NCI|N|
C4554073|A disorder characterized by target lesions (a pink-red ring around a pale center).|NCI|N|
C4554074|A finding of leakage due to breakdown of an esophageal anastomosis (surgical connection of two separate anatomic structures).|NCI|N|
C4554075|A disorder characterized by bleeding from the esophagus.|NCI|N|
C4554076|A disorder characterized by a necrotic process occurring in the esophageal wall.|NCI|N|
C4554077|A disorder characterized by blockage of the normal flow of the contents in the esophagus.|NCI|N|
C4554078|A disorder characterized by a circumscribed, erosive lesion on the mucosal surface of the esophageal wall.|NCI|N|
C4554079|A disorder characterized by bleeding from esophageal varices.|NCI|N|
C4554080|A disorder characterized by a rupture in the ileal wall.|NCI|N|
C4554084|A disorder characterized by necrotic changes in the bone tissue due to interruption of blood supply. Most often affecting the epiphysis of the long bones, the necrotic changes result in the collapse and the destruction of the bone structure.|NCI|N|
C4554085|A disorder characterized by a necrotic process occurring in the bone of the mandible.|NCI|N|
C4554086|A disorder characterized by an infectious process involving the ovary.|NCI|N|
C4554087|A disorder characterized by tearing or disruption of the ovarian tissue.|NCI|N|
C4554088|Ovarian, fallopian tube, or primary peritoneal carcinoma with distant metastasis, including pleural effusion with positive cytology; liver or splenic parenchymal metastasis; metastasis to extra-abdominal organs (including inguinal lymph nodes and lymph nodes outside the abdominal cavity); and transmural involvement of intestine. (from AJCC 8th Ed.)|NCI|N|
C4554089|Ovarian, fallopian tube, or primary peritoneal carcinoma with distant metastasis, including pleural effusion with positive cytology; liver or splenic parenchymal metastasis; metastasis to extra-abdominal organs (including inguinal lymph nodes and lymph nodes outside the abdominal cavity); and transmural involvement of intestine. (from AJCC 8th Ed.)|NCI|N|
C4554090|Ovarian, fallopian tube, or primary peritoneal carcinoma with pleural effusion with positive cytology. (from AJCC 8th Ed.)|NCI|N|
C4554091|Ovarian, fallopian tube, or primary peritoneal carcinoma with pleural effusion with positive cytology. (from AJCC 8th Ed.)|NCI|N|
C4554092|Ovarian, fallopian tube, or primary peritoneal carcinoma with liver or splenic parenchymal metastases; metastases to extra-abdominal organs (including inguinal lymph nodes and lymph nodes outside the abdominal cavity); transmural involvement of intestine. (from AJCC 8th Ed.)|NCI|N|
C4554093|Ovarian, fallopian tube, or primary peritoneal carcinoma with liver or splenic parenchymal metastases; metastases to extra-abdominal organs (including inguinal lymph nodes and lymph nodes outside the abdominal cavity); transmural involvement of intestine. (from AJCC 8th Ed.)|NCI|N|
C4554094|A disorder characterized by a sensation of marked discomfort in one side of the abdomen between menstrual cycles, around the time of the discharge of the ovum from the ovarian follicle.|NCI|N|
C4554096|A disorder characterized by less than 10% total body skin area separation of dermis. The syndrome is thought to be a hypersensitivity complex affecting the skin and the mucous membranes.|NCI|N|
C4554097|A disorder characterized by a sensation of marked discomfort in the stomach.|NCI|N|
C4554098|A disorder characterized by a circumscribed, erosive lesion on the jejunal mucosal surface close to the anastomosis site following a gastroenterostomy procedure.|NCI|N|
C4554100|A disorder characterized by a decrease or absence of blood supply to the brain caused by obstruction (thrombosis or embolism) of an artery resulting in neurological damage.|NCI|N|
C4554103|An unexpected death that cannot be attributed to a CTCAE term associated with Grade 5.|NCI|N|
C4554104|A disorder characterized by thoughts of taking one''s own life.|NCI|N|
C4554105|A disorder characterized by self-inflicted harm in an attempt to end one''s own life.|NCI|N|
C4554106|A disorder characterized by fibrotic degeneration of the superficial soft tissues.|NCI|N|
C4554107|A disorder characterized by obstruction of the blood flow in the superior vena cava. Signs and symptoms include swelling and cyanosis of the face, neck, and upper arms, cough, orthopnea and headache.|NCI|N|
C4554120|CLCN2-related leukoencephalopathy is characterized by nonspecific neurologic findings, mild visual impairment from chorioretinopathy or optic atrophy, male infertility, and characteristic findings on brain MRI. Neurologic findings include mild ataxia (action tremor and gait instability following initially normal motor development; occasionally, mild spasticity), cognitive impairment in some (typically mild, rarely severe), psychiatric symptoms in some (depression and schizophrenia-like symptoms), headaches in some (usually intermittent, severe, and diffuse) and auditory symptoms in some (hearing loss, tinnitus, vertigo). Affected individuals remain ambulatory, do not require support for walking, and rarely become blind. To date CLCN2-related leukoencephalopathy has been reported or identified in 31 individuals from 30 families. It is not yet known if the findings occurring in a few individuals (i.e., epilepsy and paroxysmal kinesigenic dyskinesia) are part of the phenotypic spectrum or unrelated findings.|GeneReviews|N|
C4554123|A disorder characterized by blockage of a bronchus passage, most often by bronchial secretions and exudates.|NCI|N|
C4554124|A disorder characterized by laboratory test results that indicate an increased number of eosinophils in the blood.|NCI|N|
C4554125|A disorder characterized by a sensation of marked discomfort in the buttocks.|NCI|N|
C4554127|A disorder characterized by stature that is smaller than normal as expected for age.|NCI|N|
C4554128|A disorder characterized by excessive development of the breasts in males.|NCI|N|
C4554130|A finding of damage to the carotid artery.|NCI|N|
C4554131|A finding based on laboratory test results that indicate an increase in the ratio of the patient''s prothrombin time to a control sample in the blood.|NCI|N|
C4554133|A disorder characterized by a sensation of marked discomfort in the skin.|NCI|N|
C4554134|A disorder characterized by an infectious process involving the pancreas.|NCI|N|
C4554135|A finding of leakage due to breakdown of a pancreatic anastomosis (surgical connection of two separate anatomic structures).|NCI|N|
C4554136|A finding based on laboratory test results that indicate an decrease in levels of pancreatic enzymes in a biological specimen.|NCI|N|
C4554139|A disorder characterized by the presence of microangiopathic hemolytic anemia, thrombocytopenic purpura, fever, renal abnormalities and neurological abnormalities such as seizures, hemiplegia, and visual disturbances. It is an acute or subacute condition.|NCI|N|
C4554140|A disorder characterized by a pathological process of the teeth occurring during tooth development.|NCI|N|
C4554141|A disorder characterized by local dilatation of small vessels resulting in red discoloration of the skin or mucous membranes.|NCI|N|
C4554142|A disorder characterized by damage or dysfunction of the peripheral sensory nerves.|NCI|N|
C4554143|A disorder characterized by a sensation of marked discomfort in the testis.|NCI|N|
C4554150|A disorder characterized by episodic reddening of the skin, especially face, neck, or chest.|NCI|N|
C4554157|A finding based on laboratory test results that indicate an decrease in levels of haptoglobin in a blood specimen.|NCI|N|
C4554158|A disorder characterized by the inability of the heart to pump blood at an adequate volume to meet tissue metabolic requirements, or, the ability to do so only at an elevation in the filling pressure.|NCI|N|
C4554159|A finding based on laboratory test results that indicate increased levels of hemoglobin above normal.|NCI|N|
C4554160|A disorder characterized by laboratory test results that indicate the presence of free hemoglobin in the urine.|NCI|N|
C4554161|A disorder characterized by a form of thrombotic microangiopathy with renal failure, hemolytic anemia, and severe thrombocytopenia.|NCI|N|
C4554162|A disorder characterized by bleeding from the hemorrhoids.|NCI|N|
C4554163|A disorder characterized by the presence of dilated veins in the rectum and surrounding area.|NCI|N|
C4554164|A disorder characterized by bleeding from the liver.|NCI|N|
C4554165|A disorder characterized by an infectious process involving the liver.|NCI|N|
C4554166|A disorder characterized by a necrotic process occurring in the hepatic parenchyma.|NCI|N|
C4554167|A finding of leakage of contents from an intestinal stoma (surgically created opening on the surface of the body).|NCI|N|
C4554168|A disorder characterized by bleeding in the abdominal cavity.|NCI|N|
C4554169|A disorder characterized by bleeding from the cranium.|NCI|N|
C4554170|A finding of damage to an artery during a surgical procedure.|NCI|N|
C4554171|A finding of damage to the breast parenchyma during a surgical procedure.|NCI|N|
C4554172|A finding of damage to the heart during a surgical procedure.|NCI|N|
C4554173|A finding of damage to the endocrine gland during a surgical procedure.|NCI|N|
C4554174|A finding of damage to the gastrointestinal system during a surgical procedure.|NCI|N|
C4554175|A finding of damage to the head and neck during a surgical procedure.|NCI|N|
C4554176|A finding of uncontrolled bleeding during a surgical procedure.|NCI|N|
C4554177|A finding of damage to the nervous system during a surgical procedure.|NCI|N|
C4554178|A disorder characterized by a necrotic process occurring in the pancreas.|NCI|N|
C4554179|A disorder characterized by inflammation of the pancreas with no documented pancreas infection.|NCI|N|
C4554180|A disorder characterized by swelling around the optic disc.|NCI|N|
C4554181|A disorder characterized by an eruption consisting of papules (a small, raised pimple) and pustules (a small pus filled blister), typically appearing in face, scalp, and upper chest and back. Unlike acne, this rash does not present with whiteheads or blackheads, and can be symptomatic, with itchy or tender lesions.|NCI|N|
C4554182|A disorder characterized by a dysrhythmia with abrupt onset and sudden termination of atrial contractions with a rate of 150-250 beats per minute. The rhythm disturbance originates in the atria.|NCI|N|
C4554183|A disorder characterized by an infectious process involving the penis.|NCI|N|
C4554184|A disorder characterized by a sensation of marked discomfort in the penis.|NCI|N|
C4554185|A disorder characterized by noise in the ears, such as ringing, buzzing, roaring or clicking.|NCI|N|
C4554186|A disorder characterized by a change in tooth hue or tint.|NCI|N|
C4554232|A molecular genetic abnormality indicating the presence of a mutation in intron 13 of the MET gene.|NCI|N|
C4554233|A molecular genetic abnormality indicating the presence of a mutation in intron 14 of the MET gene.|NCI|N|
C4554234|A disorder characterized by repeated gulp sounds that result from an involuntary opening and closing of the glottis. This is attributed to a spasm of the diaphragm.|NCI|N|
C4554235|A disorder characterized by the presence of excess hair growth in women in anatomic sites where growth is considered to be a secondary male characteristic and under androgen control (beard, moustache, chest, abdomen).|NCI|N|
C4554236|A finding based on lung function test results that indicate a decrease in the lung capacity to absorb carbon monoxide.|NCI|N|
C4554239|A finding of leakage due to breakdown of an anastomosis (surgical connection of two separate anatomic structures) in the large intestine.|NCI|N|
C4554240|A disorder characterized by swelling due to an excessive accumulation of fluid in the larynx.|NCI|N|
C4554241|A disorder characterized by ulceration or inflammation involving the mucous membrane of the larynx.|NCI|N|
C4554242|A finding of damage to the eye during a surgical procedure.|NCI|N|
C4554243|A finding of damage to the reproductive organs during a surgical procedure.|NCI|N|
C4554248|A disorder characterized by a change in cycle or duration of menses from baseline.|NCI|N|
C4554252|A disorder characterized by an increase in intrapericardial pressure due to the collection of blood or fluid in the pericardium.|NCI|N|
C4554253|A disorder characterized by a sensation of marked discomfort in the area between the genital organs and the anus.|NCI|N|
C4554254|A disorder characterized by impaired circulation to an extremity.|NCI|N|
C4554255|A disorder characterized by an infectious process involving the peripheral nerves.|NCI|N|
C4554256|A disorder characterized by an infectious process involving the peritoneum.|NCI|N|
C4554257|A disorder characterized by a conspicuous change in a person''s behavior and thinking.|NCI|N|
C4554260|A disorder characterized by ulceration or inflammation involving the mucous membrane of the pharynx.|NCI|N|
C4554261|A disorder characterized by an inflammation or ulceration involving the mucous membrane of the trachea.|NCI|N|
C4554262|A disorder characterized by a narrowing of the trachea.|NCI|N|
C4554263|A disorder characterized by bleeding from the tracheostomy site.|NCI|N|
C4554265|A disorder characterized by the uncontrolled shaking movement of the whole body or individual parts.|NCI|N|
C4554266|A disorder characterized by a decrease in joint flexibility of any joint.|NCI|N|
C4554322|A disorder characterized by an infectious process involving the abdominal cavity.|NCI|N|
C4554323|A disorder characterized by a sensation of marked discomfort in the abdominal region.|NCI|N|
C4554324|A disorder characterized by a necrotic process occurring in the soft tissues of the abdominal wall.|NCI|N|
C4554325|A disorder characterized by dysfunction of the abducens nerve (sixth cranial nerve).|NCI|N|
C4554326|A disorder characterized by dysfunction of the acoustic nerve (eighth cranial nerve).|NCI|N|
C4554327|A finding based on laboratory test results in which the partial thromboplastin time is found to be greater than the control value. As a possible indicator of coagulopathy, a prolonged partial thromboplastin time (PTT) may occur in a variety of diseases and disorders, both primary and related to treatment.|NCI|N|
C4554328|A disorder characterized by an infectious process that arises secondary to catheter use.|NCI|N|
C4554329|A finding based on laboratory test results that indicate an decrease in levels of CD4 lymphocytes in a blood specimen.|NCI|N|
C4554330|A disorder characterized by blockage of the laryngeal airway.|NCI|N|
C4554331|A disorder characterized by an inflammatory process involving the larynx.|NCI|N|
C4554332|A disorder characterized by paroxysmal spasmodic muscular contraction of the vocal cords.|NCI|N|
C4554333|A disorder characterized by a narrowing of the lumen of the jejunum.|NCI|N|
C4554335|A disorder characterized by excessive fluid in a joint, usually as a result of joint inflammation.|NCI|N|
C4554336|A disorder characterized by a decrease in flexibility of a lumbar spine joint.|NCI|N|
C4554337|A disorder characterized by paralysis of the recurrent laryngeal nerve.|NCI|N|
C4554338|A disorder characterized by a narrowing of the pharyngeal airway.|NCI|N|
C4554339|A disorder characterized by a sensation of marked discomfort in the pharyngolaryngeal region.|NCI|N|
C4554340|A disorder characterized by inflammation of the wall of a vein.|NCI|N|
C4554341|A disorder characterized by an infectious process involving the vein. Clinical manifestations include erythema, marked discomfort, swelling, and induration along the course of the infected vein.|NCI|N|
C4554342|A disorder characterized by fear and avoidance of light.|NCI|N|
C4554343|Transient eyelid retraction during refixation from down to straight ahead.|HPO|N|
C4554344|Primary food allergies primarily occur as a result (most likely) of gastrointestinal sensitization to predominantly stable food allergens (glycoproteins). A secondary food allergy develops after primary sensitization to airborne allergens (e. g., pollen allergens) with subsequent reactions (due to cross-reactivity) to structurally related often labile allergens in (plant) foods.|HPO|N|
C4554345|A disorder characterized by laboratory test results that indicate a low concentration of albumin in the blood.|NCI|N|
C4554346|A disorder characterized by laboratory test results that indicate the presence of excessive protein in the urine. It is predominantly albumin, but also globulin.|NCI|N|
C4554372|A disorder characterized by a sensation of marked discomfort in the face, between the eyes, or upper teeth originating from the sinuses.|NCI|N|
C4554406|Fanconi anemia (FA) is characterized by physical abnormalities, bone marrow failure, and increased risk for malignancy. Physical abnormalities, present in approximately 75% of affected individuals, include one or more of the following: short stature, abnormal skin pigmentation, skeletal malformations of the upper and/or lower limbs, microcephaly, and ophthalmic and genitourinary tract anomalies. Progressive bone marrow failure with pancytopenia typically presents in the first decade, often initially with thrombocytopenia or leukopenia. The incidence of acute myeloid leukemia is 13% by age 50 years. Solid tumors – particularly of the head and neck, skin, and genitourinary tract – are more common in individuals with FA.|GeneReviews|N|
C4554407|A finding of injury of the soft tissues or bone characterized by leakage of blood into surrounding tissues.|NCI|N|
C4554408|A disorder characterized by a sensation of marked discomfort in the prostate gland.|NCI|N|
C4554414|A disorder characterized by an injury of the rotator cuff.|NCI|N|
C4554421|Amyloidosis cutis dyschromica (ACD), a rare form of primary localized cutaneous amyloidosis, is a pigmentary disorder in which keratinocyte-derived amyloid is deposited in the skin. Onset occurs before puberty and involves macular or reticulate hyperpigmentation admixed with symmetrically distributed guttate hypopigmented and hyperpigmented lesions. ACD can be distinguished from other conditions with similar clinical findings by a skin biopsy in which amyloid deposition in the papillary dermis is seen. Specific features that set ACD apart from the more common macular and lichenoid variants of primary cutaneous amyloidosis include dotted, reticular, or diffuse hyperpigmentation admixed with lentil-sized hypopigmented macules; mild or no associated pruritus; and, on histologic examination of skin from both hyper- and hypopigmented lesions, amyloid deposition confined to the papillary dermis, in close proximity to the epidermis (Huang et al. (2009); Mahon et al., 2016).
For a discussion of genetic heterogeneity of primary localized cutaneous amyloidosis, see 105250.|OMIM|N|
C4554445|A disorder characterized by a sensation of marked discomfort in the face.|NCI|N|
C4554446|A disorder characterized by a dysrhythmia with a heart rate greater than 100 beats per minute that originates distal to the bundle of His.|NCI|N|
C4554531|A type of ulcer that is caused when an area of skin is subject to pressure over a prolonged period of time, ranging in range in severity from patches of discolored skin to open wounds that expose the underlying bone or muscle. The most common sites are the sacrum, coccyx, heels and the hips.|HPO|N|
C4554551|A disorder characterized by a sensation of marked discomfort in the pelvis.|NCI|N|
C4554601|A rare primary cutaneous amyloidosis characterized by macular or reticulate hyperpigmentation with symmetrically distributed guttate hypo and hyperpigmented lesions which progress gradually over the years to involve almost the entire body (with relative sparing of the face, hands, feet and neck). Patients are usually asymptomatic, however mild pruritus may be associated. Amyloid deposition in the papillary dermis is observed on skin biopsy. Systemic amyloidosis is not present and association with generalized morphea, atypical Parkinsonism, spasticity, motor weakness or colon carcinoma is rare.|SNOMEDCT_US|N|
C4554621|A disorder characterized by loss of cerebrospinal fluid into the surrounding tissues.|NCI|N|
C4554622|A disorder characterized by reduced bone mass, with a decrease in cortical thickness and in the number and size of the trabeculae of cancellous bone (but normal chemical composition), resulting in increased fracture incidence.|NCI|N|
C4554623|A disorder characterized by a sensation of marked discomfort in the breast region.|NCI|N|
C4554624|A disorder characterized by laboratory test results that indicate a low concentration of calcium (corrected for albumin) in the blood.|NCI|N|
C4554625|A disorder characterized by abnormal sensual experience with the taste of foodstuffs; it can be related to a decrease in the sense of smell.|NCI|N|
C4554626|A disorder characterized by difficulty in falling asleep and/or remaining asleep.|NCI|N|
C4554627|A disorder characterized by bleeding from the nose.|NCI|N|
C4554628|A disorder characterized by a defect in tricuspid valve function or structure.|NCI|N|
C4554629|A disorder characterized by personality change, impaired functioning, and loss of touch with reality. It may be a manifestation of schizophrenia, bipolar disorder or brain tumor.|NCI|N|
C4554630|A disorder characterized by laboratory test results that indicate blood in the urine.|NCI|N|
C4554631|A disorder characterized by obstruction of the nasal passage due to mucosal edema.|NCI|N|
C4554632|A disorder characterized by an abnormal increase in the curvature of the lumbar portion of the spine.|NCI|N|
C4554633|A disorder characterized by a reduction in the amount of hemoglobin in 100 ml of blood. Signs and symptoms of anemia may include pallor of the skin and mucous membranes, shortness of breath, palpitations of the heart, soft systolic murmurs, lethargy, and fatigability.|NCI|N|
C4554634|A disorder characterized by a decrease in the number of spermatozoa in the semen.|NCI|N|
C4554635|A disorder characterized by a decrease in production of parathyroid hormone by the parathyroid glands.|NCI|N|
C4554636|A disorder characterized by laboratory test results that indicate an elevation in the concentration of sodium in the blood.|NCI|N|
C4554637|A disorder characterized by laboratory test results that indicate a low concentration of phosphates in the blood.|NCI|N|
C4554638|A disorder characterized by an infectious process involving the urinary tract, most commonly the bladder and the urethra.|NCI|N|
C4554639|A disorder characterized by lack of coordination of muscle movements resulting in the impairment or inability to perform voluntary activities.|NCI|N|
C4554640|A disorder characterized by a sensation of marked discomfort in the mouth, tongue or lips.|NCI|N|
C4554641|A disorder characterized by a brief attack (less than 24 hours) of cerebral dysfunction of vascular origin, with no persistent neurological deficit.|NCI|N|
C4554642|A disorder characterized by dysfunction of the trochlear nerve (fourth cranial nerve).|NCI|N|
C4554643|A disorder characterized by excessive mucous secretion in the back of the nasal cavity or throat, causing sore throat and/or coughing.|NCI|N|
C4554644|A disorder characterized by spontaneous loss of consciousness caused by insufficient blood supply to the brain.|NCI|N|
C4554645|A disorder characterized by a state of generalized weakness with a pronounced inability to summon sufficient energy to accomplish daily activities.|NCI|N|
C4554646|A disorder characterized by fluid collection within the pericardial sac, usually due to inflammation.|NCI|N|
C4554647|A disorder characterized by laboratory test results that indicate an elevation in the concentration of magnesium in the blood.|NCI|N|
C4554648|A disorder characterized by vaginal secretions. Mucus produced by the cervical glands is discharged from the vagina naturally, especially during the childbearing years.|NCI|N|
C4554649|A disorder characterized by laboratory test results that indicate an elevation in the concentration of phosphate in a blood.|NCI|N|
C4554650|A disorder characterized by a tear in the lining of the anus.|NCI|N|
C4554651|A disorder characterized by fluid accumulation in the tissues of the body including the skin.|NCI|N|
C4554652|A disorder characterized by an increase in thyroid stimulating hormone.|NCI|N|
C4554653|A disorder characterized by Electrocardiogram T wave amplitude changes.|NCI|N|
C4554654|A finding based on laboratory test results that indicate increased levels of lactate dehydrogenase in the blood specimen.|NCI|N|
C4554655|A disorder characterized by a necrotic process occurring in the soft tissues of the chest wall including breast.|NCI|N|
C4554656|A disorder characterized by bleeding in a tumor.|NCI|N|
C4554657|A disorder characterized by less than normal deep tendon reflexes.|NCI|N|
C4554658|A disorder that occurs after the injection of a substance with antigenic properties, administered to activate the immune system.|NCI|N|
C4554659|A disorder characterized by occlusion of an arterial vessel by a blood clot that develops in an artery.|NCI|N|
C4554660|A disorder characterized by a tear in the lining of the rectum.|NCI|N|
C4554661|A disorder characterized by an infectious process involving the brain tissue.|NCI|N|
C4554662|A disorder characterized by the reactivation of Herpes simplex virus|NCI|N|
C4554663|A disorder characterized by the reactivation of hepatitis B virus.|NCI|N|
C4554664|A disorder characterized by the reactivation of Epstein-Barr virus (EBV).|NCI|N|
C4554665|A disorder characterized by the reactivation of cytomegalovirus (CMV).|NCI|N|
C4554666|A disorder characterized by a change in the way the hair feels.|NCI|N|
C4554667|A disorder characterized by low testosterone.|NCI|N|
C4554668|A disorder characterized by lymph node enlargement after vaccination|NCI|N|
C4554669|A disorder characterized by a sensation of marked discomfort in the oropharynx.|NCI|N|
C4555209|A disorder characterized by partial or complete opacity of the crystalline lens of one or both eyes. This results in a decrease in visual acuity and eventual blindness if untreated.|NCI|N|
C4555211|A disorder characterized by a lack of clear and orderly thought and behavior.|NCI|N|
C4555212|A disorder characterized by laboratory test results that indicate an elevation in the concentration of lipids in blood.|NCI|N|
C4555214|A disorder characterized by cessation of breathing for short periods during sleep.|NCI|N|
C4682415|A finding about one or more characteristics of vaginal cancer, following the rules of the TNM AJCC v8 classification system. This classification system applies to all carcinomas of the vagina. There is no AJCC staging system for mucosal melanoma of the vagina. (from AJCC 8th Ed.)|NCI|N|
C4682416|A clinical finding about one or more characteristics of vaginal cancer, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4682417|A clinical finding about one or more characteristics of vaginal cancer, following the rules of the TNM AJCC v8 classification system as they pertain to distant metastases.|NCI|N|
C4682418|Vaginal cancer without evidence of distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4682419|Vaginal cancer with distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4682420|A pathologic finding about one or more characteristics of vaginal cancer, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4682421|A pathologic finding about one or more characteristics of vaginal cancer, following the rules of the TNM AJCC v8 classification system as they pertain to distant metastases.|NCI|N|
C4682422|Vaginal cancer with distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4682423|A pathologic finding about one or more characteristics of vaginal cancer, following the rules of the TNM AJCC v8 classification system as they pertain to staging of the primary tumor. The definitions of the T categories correspond to the stages accepted by FIGO. (from AJCC 8th Ed.)|NCI|N|
C4682424|Vaginal cancer in which the primary tumor cannot be assessed. (from AJCC 8th Ed.)|NCI|N|
C4682425|Vaginal cancer with no evidence of primary tumor. (from AJCC 8th Ed.)|NCI|N|
C4682426|Vaginal cancer with tumor invading the mucosa of the bladder or rectum and/or extending beyond the true pelvis (bullous edema is not sufficient evidence to classify a tumor as T4). (from AJCC 8th Ed.)|NCI|N|
C4682427|A pathologic finding about one or more characteristics of vaginal cancer, following the rules of the TNM AJCC v8 classification system as they pertain to staging of regional lymph nodes.|NCI|N|
C4682428|Vaginal cancer in which the regional lymph nodes cannot be assessed. (from AJCC 8th Ed.)|NCI|N|
C4682429|Vaginal cancer with no regional lymph node metastasis. (from AJCC 8th Ed.)|NCI|N|
C4682430|Vaginal cancer with isolated tumor cells in regional lymph node(s) no greater than 0.2 mm. (from AJCC 8th Ed.)|NCI|N|
C4682431|A term that refers to the staging of vaginal cancer according to the American Joint Committee on Cancer, 8th edition. This staging system applies to all carcinomas of the vagina. There is no AJCC staging system for mucosal melanoma of the vagina. (from AJCC 8th Ed.)|NCI|N|
C4682432|Stage IB includes: T1b, N0, M0. T1b: Tumor confined to the vagina, measuring more than 2.0 cm. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th Ed.)|NCI|N|
C4682433|Stage IIA includes: T2a, N0, M0. T2a: Tumor invading paravaginal tissues but not to pelvic wall, measuring 2.0 cm or less. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th Ed.)|NCI|N|
C4682435|Stage IIB includes: T2b, N0, M0. T2b: Tumor invading paravaginal tissues but not to pelvic wall, measuring more than 2.0 cm. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th Ed.)|NCI|N|
C4682437|A disease state that refers to a limited number of clinically detectable metastases, an intermediate state between purely localized disease and widespread metastases.|NCI|N|
C4682441|A response indicating that an individual used a smartphone or tablet other than their own, a friend or family member''s, or the clinic''s.|NCI|N|
C4682443|Histologic transformation of a follicular lymphoma to an aggressive diffuse large B-cell lymphoma.|NCI|N|
C4682444|A finding about one or more characteristics of cervical cancer, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4682445|A clinical finding about one or more characteristics of cervical cancer, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4682446|A clinical finding about one or more characteristics of cervical cancer, following the rules of the TNM AJCC v8 classification system as they pertain to distant metastases.|NCI|N|
C4682447|Cervical cancer in which there is no evidence of distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4682448|A clinical finding about one or more characteristics of cervical cancer, following the rules of the TNM AJCC v8 classification system as they pertain to staging of the primary tumor.|NCI|N|
C4682449|Cervical cancer in which primary tumor cannot be assessed. (from AJCC 8th Ed.)|NCI|N|
C4682450|Cervical cancer with no evidence of primary tumor. (from AJCC 8th Ed.)|NCI|N|
C4682451|A pathologic finding about one or more characteristics of cervical cancer, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4682452|A pathologic finding about one or more characteristics of cervical cancer, following the rules of the TNM AJCC v8 classification system as they pertain to distant metastases.|NCI|N|
C4682453|A pathologic finding about one or more characteristics of cervical cancer, following the rules of the TNM AJCC v8 classification system as they pertain to staging of the primary tumor.|NCI|N|
C4682454|Cervical cancer in which the primary tumor cannot be assessed. (from AJCC 8th Ed.)|NCI|N|
C4682455|Cervical cancer with no evidence of primary tumor. (from AJCC 8th Ed.)|NCI|N|
C4682456|Invasive cervical carcinoma diagnosed only by microscopy. Stromal invasion with a maximum depth of 5.0 mm measured from the base of the epithelium and a horizontal spread of 7.0 mm or less. Vascular space involvement, venous or lymphatic, does not affect classification. (from AJCC 8th Ed.)|NCI|N|
C4682457|Invasive cervical carcinoma with measured stromal invasion of 3.0 mm or less in depth and 7.0 mm or less in horizontal spread. (from AJCC 8th Ed.)|NCI|N|
C4682458|Invasive cervical carcinoma with measured stromal invasion of more than 3.0 mm and not more than 5.0 mm, with a horizontal spread of 7.0 mm or less. (from AJCC 8th Ed.)|NCI|N|
C4682459|A pathologic finding about one or more characteristics of cervical cancer, following the rules of the TNM AJCC v8 classification system as they pertain to staging of regional lymph nodes.|NCI|N|
C4682460|Cervical cancer in which the regional lymph nodes cannot be assessed. (from AJCC 8th Ed.)|NCI|N|
C4682461|Cervical cancer with no regional lymph node metastasis. (from AJCC 8th Ed.)|NCI|N|
C4682462|Cervical cancer with isolated tumor cells in regional lymph node(s) no greater than 0.2 mm. (from AJCC 8th Ed.)|NCI|N|
C4682463|Cervical cancer with regional lymph node metastasis. (from AJCC 8th Ed.)|NCI|N|
C4682467|A term that refers to the staging of cervical cancer according to the American Joint Committee on Cancer, 8th edition.|NCI|N|
C4682470|A clinical finding about one or more characteristics of uterine corpus carcinoma or carcinosarcoma, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4682471|A clinical finding about one or more characteristics of uterine corpus carcinoma or carcinosarcoma, following the rules of the TNM AJCC v8 classification system as they pertain to distant metastases.|NCI|N|
C4682472|Uterine corpus carcinoma or carcinosarcoma without evidence of distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4682473|A pathologic finding about one or more characteristics of uterine corpus carcinoma or carcinosarcoma, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4682474|A pathologic finding about one or more characteristics of uterine corpus carcinoma or carcinosarcoma, following the rules of the TNM AJCC v8 classification system as they pertain to distant metastases.|NCI|N|
C4682475|A pathologic finding about one or more characteristics of uterine corpus carcinoma or carcinosarcoma, following the rules of the TNM AJCC v8 classification system as they pertain to staging of the primary tumor. The definitions of the T categories correspond to the stages accepted by FIGO. (from AJCC 8th Ed.)|NCI|N|
C4682476|Uterine corpus carcinoma or carcinosarcoma in which the primary tumor cannot be assessed. (from AJCC 8th Ed.)|NCI|N|
C4682477|Uterine corpus carcinoma or carcinosarcoma with no evidence of primary tumor. (from AJCC 8th Ed.)|NCI|N|
C4682478|Uterine corpus carcinoma or carcinosarcoma with tumor confined to the corpus uteri, including endocervical glandular involvement. (from AJCC 8th Ed.)|NCI|N|
C4682479|Uterine corpus carcinoma or carcinosarcoma with tumor limited to the endometrium or invading less than half the myometrium. (from AJCC 8th Ed.)|NCI|N|
C4682480|Uterine corpus carcinoma or carcinosarcoma with tumor invading one half or more of the myometrium. (from AJCC 8th Ed.)|NCI|N|
C4682481|Uterine corpus carcinoma or carcinosarcoma with tumor invading the stromal connective tissue of the cervix but not extending beyond the uterus. Does not include endocervical glandular involvement. (from AJCC 8th Ed.)|NCI|N|
C4682482|Uterine corpus carcinoma or carcinosarcoma with tumor involving serosa, adnexa, vagina, or parametrium. (from AJCC 8th Ed.)|NCI|N|
C4682483|Uterine corpus carcinoma or carcinosarcoma with tumor involving the serosa and/or adnexa (direct extension or metastasis). (from AJCC 8th Ed.)|NCI|N|
C4682484|Uterine corpus carcinoma or carcinosarcoma with vaginal involvement (direct extension or metastasis) or parametrial involvement. (from AJCC 8th Ed.)|NCI|N|
C4682485|Uterine corpus carcinoma or carcinosarcoma with tumor invading the bladder mucosa and/or bowel mucosa (bullous edema is not sufficient to classify a tumor as T4). (from AJCC 8th Ed.)|NCI|N|
C4682486|A pathologic finding about one or more characteristics of uterine corpus carcinoma or carcinosarcoma, following the rules of the TNM AJCC v8 classification system as they pertain to staging of regional lymph nodes.|NCI|N|
C4682487|Uterine corpus carcinoma or carcinosarcoma in which the regional lymph nodes cannot be assessed. (from AJCC 8th Ed.)|NCI|N|
C4682488|Uterine corpus carcinoma or carcinosarcoma with no regional lymph node metastasis. (from AJCC 8th Ed.)|NCI|N|
C4682489|Uterine corpus carcinoma or carcinosarcoma with isolated tumor cells in regional lymph node(s) no greater than 0.2 mm. (from AJCC 8th Ed.)|NCI|N|
C4682490|A semi-quantitative microscopic finding indicating that 50 percent or less of the nucleated cells in a bone marrow sample are immature mononuclear cells.|NCI|N|
C4682494|A blood concentration of prostate specific antigen that is greater than 0.1 ng/mL.|NCI|N|
C4682495|A blood concentration of prostate specific antigen greater than or equal to 5 ng/mL.|NCI|N|
C4682497|A change in the nucleotide sequence of the PTPN11 gene that that results in constitutive activation of both tyrosine-protein phosphatase non-receptor type 11 and its downstream signaling pathways.|NCI|N|
C4682498|A change in the nucleotide sequence of the BRAF gene that that results in constitutive activation of both serine/threonine-protein kinase B-raf and its downstream signaling pathways.|NCI|N|
C4682499|A change in the nucleotide sequence of the NRAS gene that that results in constitutive activation of both oncogene N-Ras protein and its downstream signaling pathways.|NCI|N|
C4682500|A change in the nucleotide sequence of the HRAS gene that that results in constitutive activation of both oncogene H-Ras protein and its downstream signaling pathways.|NCI|N|
C4682502|A term that refers to the staging of uterine corpus cancer according to the American Joint Committee on Cancer, 8th edition. This staging system applies to carcinomas and carcinosarcomas. It does not apply to uterine corpus sarcomas: leiomyosarcomas, endometrial stromal sarcomas, and adenosarcomas. These sarcomas are staged according to the classification for uterine corpus sarcomas. (from AJCC 8th Ed.)|NCI|N|
C4682503|A finding about one or more characteristics of uterine corpus sarcoma, following the rules of the TNM AJCC v8 classification system. This classification system applies to sarcomas arising in the uterine corpus (leiomyosarcomas, endometrial stromal sarcomas, and adenosarcomas). Carcinosarcomas are staged according to the classification for uterine corpus carcinomas and carcinosarcomas. (from AJCC 8th Ed.)|NCI|N|
C4682504|A finding about one or more characteristics of uterine corpus leiomyosarcoma or endometrial stromal sarcoma, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4682505|A clinical finding about one or more characteristics of uterine corpus leiomyosarcoma or endometrial stromal sarcoma, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4682506|A clinical finding about one or more characteristics of uterine corpus leiomyosarcoma or endometrial stromal sarcoma, following the rules of the TNM AJCC v8 classification system as they pertain to distant metastases.|NCI|N|
C4682507|Uterine corpus leiomyosarcoma or endometrial stromal sarcoma without evidence of distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4682508|A pathologic finding about one or more characteristics of uterine corpus leiomyosarcoma or endometrial stromal sarcoma, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4682509|A pathologic finding about one or more characteristics of uterine corpus leiomyosarcoma or endometrial stromal sarcoma, following the rules of the TNM AJCC v8 classification system as they pertain to distant metastases.|NCI|N|
C4682510|A pathologic finding about one or more characteristics of uterine corpus leiomyosarcoma or endometrial stromal sarcoma, following the rules of the TNM AJCC v8 classification system as they pertain to staging of the primary tumor. The definitions of the T categories correspond to the stages accepted by FIGO. (from AJCC 8th Ed.)|NCI|N|
C4682511|Uterine corpus leiomyosarcoma or endometrial stromal sarcoma in which the primary tumor cannot be assessed. (from AJCC 8th Ed.)|NCI|N|
C4682512|Uterine corpus leiomyosarcoma or endometrial stromal sarcoma with no evidence of primary tumor. (from AJCC 8th Ed.)|NCI|N|
C4682513|Uterine corpus leiomyosarcoma or endometrial stromal sarcoma with tumor limited to the uterus. (from AJCC 8th Ed.)|NCI|N|
C4682514|Uterine corpus leiomyosarcoma or endometrial stromal sarcoma with tumor limited to the uterus, measuring 5 cm or less in greatest dimension. (from AJCC 8th Ed.)|NCI|N|
C4682515|Uterine corpus leiomyosarcoma or endometrial stromal sarcoma with tumor limited to the uterus, measuring more than 5 cm in greatest dimension. (from AJCC 8th Ed.)|NCI|N|
C4682516|Uterine corpus leiomyosarcoma or endometrial stromal sarcoma with tumor extending beyond the uterus, within the pelvis. (from AJCC 8th Ed.)|NCI|N|
C4682517|Uterine corpus leiomyosarcoma or endometrial stromal sarcoma with tumor extending beyond the uterus, within the pelvis and involving adnexa. (from AJCC 8th Ed.)|NCI|N|
C4682518|Uterine corpus leiomyosarcoma or endometrial stromal sarcoma with tumor involving other pelvic tissues. (from AJCC 8th Ed.)|NCI|N|
C4682519|Uterine corpus leiomyosarcoma or endometrial stromal sarcoma with tumor infiltrating abdominal tissues. (from AJCC 8th Ed.)|NCI|N|
C4682520|Uterine corpus leiomyosarcoma or endometrial stromal sarcoma with tumor infiltrating abdominal tissues at one site. (from AJCC 8th Ed.)|NCI|N|
C4682521|Uterine corpus leiomyosarcoma or endometrial stromal sarcoma with tumor infiltrating abdominal tissues at more than one site. (from AJCC 8th Ed.)|NCI|N|
C4682522|Uterine corpus leiomyosarcoma or endometrial stromal sarcoma with tumor invading bladder or rectum. (from AJCC 8th Ed.)|NCI|N|
C4682523|A pathologic finding about one or more characteristics of uterine corpus leiomyosarcoma or endometrial stromal sarcoma, following the rules of the TNM AJCC v8 classification system as they pertain to staging of regional lymph nodes.|NCI|N|
C4682524|Uterine corpus leiomyosarcoma or endometrial stromal sarcoma in which the regional lymph nodes cannot be assessed. (from AJCC 8th Ed.)|NCI|N|
C4682525|Uterine corpus leiomyosarcoma or endometrial stromal sarcoma with no regional lymph node metastasis. (from AJCC 8th Ed.)|NCI|N|
C4682526|Uterine corpus leiomyosarcoma or endometrial stromal sarcoma with isolated tumor cells in regional lymph node(s) no greater than 0.2 mm. (from AJCC 8th Ed.)|NCI|N|
C4682527|Uterine corpus leiomyosarcoma or endometrial stromal sarcoma with regional lymph node metastasis. (from AJCC 8th Ed.)|NCI|N|
C4682528|A finding about one or more characteristics of uterine corpus adenosarcoma, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4682529|A clinical finding about one or more characteristics of uterine corpus adenosarcoma, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4682530|A clinical finding about one or more characteristics of uterine corpus adenosarcoma, following the rules of the TNM AJCC v8 classification system as they pertain to distant metastases.|NCI|N|
C4682531|Uterine corpus adenosarcoma without evidence of distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4682532|A pathologic finding about one or more characteristics of uterine corpus adenosarcoma, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4682533|A pathologic finding about one or more characteristics of uterine corpus adenosarcoma, following the rules of the TNM AJCC v8 classification system as they pertain to distant metastases.|NCI|N|
C4682534|A pathologic finding about one or more characteristics of uterine corpus adenosarcoma, following the rules of the TNM AJCC v8 classification system as they pertain to staging of the primary tumor. The definitions of the T categories correspond to the stages accepted by FIGO. (from AJCC 8th Ed.)|NCI|N|
C4682535|Uterine corpus adenosarcoma in which the primary tumor cannot be assessed. (from AJCC 8th Ed.)|NCI|N|
C4682536|Uterine corpus adenosarcoma with no evidence of primary tumor. (from AJCC 8th Ed.)|NCI|N|
C4682537|Uterine corpus adenosarcoma with tumor limited to the uterus. (from AJCC 8th Ed.)|NCI|N|
C4682538|Uterine corpus adenosarcoma with tumor limited to the endometrium/endocervix. (from AJCC 8th Ed.)|NCI|N|
C4682539|Uterine corpus adenosarcoma with tumor invading to less than half of the myometrium. (from AJCC 8th Ed.)|NCI|N|
C4682540|Uterine corpus adenosarcoma with tumor invading more than half of the myometrium. (from AJCC 8th Ed.)|NCI|N|
C4682541|Uterine corpus adenosarcoma with tumor extending beyond the uterus, within the pelvis. (from AJCC 8th Ed.)|NCI|N|
C4682542|Uterine corpus adenosarcoma with tumor extending beyond the uterus, within the pelvis and involving adnexa. (from AJCC 8th Ed.)|NCI|N|
C4682543|Uterine corpus adenosarcoma with tumor involving other pelvic tissues. (from AJCC 8th Ed.)|NCI|N|
C4682544|Uterine corpus adenosarcoma with tumor infiltrating abdominal tissues. (from AJCC 8th Ed.)|NCI|N|
C4682545|Uterine corpus adenosarcoma with tumor infiltrating abdominal tissues at one site. (from AJCC 8th Ed.)|NCI|N|
C4682546|Uterine corpus adenosarcoma with tumor infiltrating abdominal tissues at more than one site. (from AJCC 8th Ed.)|NCI|N|
C4682547|Uterine corpus adenosarcoma with tumor invading bladder or rectum. (from AJCC 8th Ed.)|NCI|N|
C4682548|A pathologic finding about one or more characteristics of uterine corpus adenosarcoma, following the rules of the TNM AJCC v8 classification system as they pertain to staging of regional lymph nodes.|NCI|N|
C4682549|Uterine corpus adenosarcoma in which the regional lymph nodes cannot be assessed. (from AJCC 8th Ed.)|NCI|N|
C4682550|Uterine corpus adenosarcoma with no regional lymph node metastasis. (from AJCC 8th Ed.)|NCI|N|
C4682551|Uterine corpus adenosarcoma with isolated tumor cells in regional lymph node(s) no greater than 0.2 mm. (from AJCC 8th Ed.)|NCI|N|
C4682552|Uterine corpus adenosarcoma with regional lymph node metastasis. (from AJCC 8th Ed.)|NCI|N|
C4682553|A term that refers to the staging of uterine corpus sarcoma according to the American Joint Committee on Cancer, 8th edition. This staging system applies to leiomyosarcomas, endometrial stromal sarcomas, and adenosarcomas of the uterine corpus. It does not apply to carcinosarcomas which are staged according to the carcinomas and carcinosarcomas of the uterine corpus. (from AJCC 8th Ed.)|NCI|N|
C4682554|A term that refers to the staging of uterine corpus leiomyosarcoma according to the American Joint Committee on Cancer, 8th edition.|NCI|N|
C4682555|Stage I includes: T1, N0, M0. T1: Uterine corpus leiomyosarcoma with tumor limited to the uterus. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th Ed.)|NCI|N|
C4682556|Stage IA includes: T1a, N0, M0. T1a: Uterine corpus leiomyosarcoma with tumor limited to the uterus, measuring 5 cm or less in greatest dimension. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th Ed.)|NCI|N|
C4682557|Stage IB includes: T1b, N0, M0. T1b: Uterine corpus leiomyosarcoma with tumor limited to the uterus, measuring more than 5 cm in greatest dimension. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th Ed.)|NCI|N|
C4682558|Stage II includes: T2, N0, M0. T2: Uterine corpus leiomyosarcoma with tumor extending beyond the uterus, within the pelvis. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th Ed.)|NCI|N|
C4682559|Stage III includes: IIIA: T3a, N0, M0; IIIB: T3b, N0, M0; IIIC: T1-3, N1, M0. T1: Uterine corpus leiomyosarcoma with tumor limited to the uterus. T2: Uterine corpus leiomyosarcoma with tumor extending beyond the uterus, within the pelvis. T3: Uterine corpus leiomyosarcoma with tumor infiltrating abdominal tissues. T3a: Uterine corpus leiomyosarcoma with tumor infiltrating abdominal tissues at one site. T3b: Uterine corpus leiomyosarcoma with tumor infiltrating abdominal tissues at more than one site. N0: No regional lymph node metastasis. N1: Regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th Ed.)|NCI|N|
C4682560|Stage IIIA includes: T3a, N0, M0. T3a: Uterine corpus leiomyosarcoma with tumor infiltrating abdominal tissues at one site. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th Ed.)|NCI|N|
C4682561|Stage IIIB includes: T3b, N0, M0. T3b: Uterine corpus leiomyosarcoma with tumor infiltrating abdominal tissues at more than one site. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th Ed.)|NCI|N|
C4682562|Stage IIIC includes: T1-3, N1, M0. T1: Uterine corpus leiomyosarcoma with tumor limited to the uterus. T2: Uterine corpus leiomyosarcoma with tumor extending beyond the uterus, within the pelvis. T3: Uterine corpus leiomyosarcoma with tumor infiltrating abdominal tissues. N1: Regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th Ed.)|NCI|N|
C4682563|Stage IV includes: IVA: T4, Any N, M0; IVB: Any T, Any N, M1. T4: Uterine corpus leiomyosarcoma with tumor invading bladder or rectum. M0: No distant metastasis. M1: Distant metastasis (excluding adnexa, pelvic, and abdominal tissues). (from AJCC 8th Ed.)|NCI|N|
C4682564|Stage IVA includes: T4, Any N, M0. T4: Uterine corpus leiomyosarcoma with tumor invading bladder or rectum. M0: No distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4682565|Stage IVB includes: Any T, Any N, M1. M1: M1: Distant metastasis (excluding adnexa, pelvic, and abdominal tissues). (from AJCC 8th Ed.)|NCI|N|
C4682566|A term that refers to the staging of uterine corpus endometrial stroma sarcoma according to the American Joint Committee on Cancer, 8th edition.|NCI|N|
C4682567|Stage I includes: T1, N0, M0. T1: Uterine corpus endometrial stroma sarcoma with tumor limited to the uterus. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th Ed.)|NCI|N|
C4682568|Stage IA includes: T1a, N0, M0. T1a: Uterine corpus endometrial stroma sarcoma with tumor limited to the uterus, measuring 5 cm or less in greatest dimension. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th Ed.)|NCI|N|
C4682569|Stage IB includes: T1b, N0, M0. T1b: Uterine corpus endometrial stroma sarcoma with tumor limited to the uterus, measuring more than 5 cm in greatest dimension. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th Ed.)|NCI|N|
C4682570|Stage II includes: T2, N0, M0. T2: Uterine corpus endometrial stroma sarcoma with tumor extending beyond the uterus, within the pelvis. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th Ed.)|NCI|N|
C4682571|Stage III includes: IIIA: T3a, N0, M0; IIIB: T3b, N0, M0; IIIC: T1-3, N1, M0. T1: Uterine corpus endometrial stroma sarcoma with tumor limited to the uterus. T2: Uterine corpus endometrial stroma sarcoma with tumor extending beyond the uterus, within the pelvis. T3: Uterine corpus endometrial stroma sarcoma with tumor infiltrating abdominal tissues. T3a: Uterine corpus endometrial stroma sarcoma with tumor infiltrating abdominal tissues at one site. T3b: Uterine corpus endometrial stroma sarcoma with tumor infiltrating abdominal tissues at more than one site. N0: No regional lymph node metastasis. N1: Regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th Ed.)|NCI|N|
C4682572|Stage IIIA includes: T3a, N0, M0. T3a: Uterine corpus endometrial stroma sarcoma with tumor infiltrating abdominal tissues at one site. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th Ed.)|NCI|N|
C4682573|Stage IIIB includes: T3b, N0, M0. T3b: Uterine corpus endometrial stroma sarcoma with tumor infiltrating abdominal tissues at more than one site. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th Ed.)|NCI|N|
C4682574|Stage IIIC includes: T1-3, N1, M0. T1: Uterine corpus endometrial stroma sarcoma with tumor limited to the uterus. T2: Uterine corpus endometrial stroma sarcoma with tumor extending beyond the uterus, within the pelvis. T3: Uterine corpus endometrial stroma sarcoma with tumor infiltrating abdominal tissues. N1: Regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th Ed.)|NCI|N|
C4682575|Stage IV includes: IVA: T4, Any N, M0; IVB: Any T, Any N, M1. T4: Uterine corpus endometrial stroma sarcoma with tumor invading bladder or rectum. M0: No distant metastasis. M1: Distant metastasis (excluding adnexa, pelvic, and abdominal tissues). (from AJCC 8th Ed.)|NCI|N|
C4682576|Stage IVA includes: T4, Any N, M0. T4: Uterine corpus endometrial stroma sarcoma with tumor invading bladder or rectum. M0: No distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4682577|Stage IVB includes: Any T, Any N, M1. M1: M1: Distant metastasis (excluding adnexa, pelvic, and abdominal tissues). (from AJCC 8th Ed.)|NCI|N|
C4682578|A term that refers to the staging of uterine corpus adenosarcoma according to the American Joint Committee on Cancer, 8th edition.|NCI|N|
C4682579|Stage IA includes: T1a, N0, M0. T1a: Uterine corpus adenosarcoma with tumor limited to the endometrium/endocervix. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th Ed.)|NCI|N|
C4682580|Stage IB includes: T1b, N0, M0. T1b: Uterine corpus adenosarcoma with tumor invading to less than half of the myometrium. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th Ed.)|NCI|N|
C4682581|Stage IC includes: T1c, N0, M0. T1c: Uterine corpus adenosarcoma with tumor invading more than half of the myometrium. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th Ed.)|NCI|N|
C4682582|Stage II includes: T2, N0, M0. T2: Uterine corpus adenosarcoma with tumor extending beyond the uterus, within the pelvis. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th Ed.)|NCI|N|
C4682583|Stage III includes: IIIA: T3a, N0, M0; IIIB: T3b, N0, M0; IIIC: T1-3, N1, M0. T1: Uterine corpus adenosarcoma with tumor limited to the uterus. T2: Uterine corpus adenosarcoma with tumor extending beyond the uterus, within the pelvis. T3: Uterine corpus adenosarcoma with tumor infiltrating abdominal tissues. T3a: Uterine corpus adenosarcoma with tumor infiltrating abdominal tissues at one site. T3b: Uterine corpus adenosarcoma with tumor infiltrating abdominal tissues at more than one site. N0: No regional lymph node metastasis. N1: Regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th Ed.)|NCI|N|
C4682584|Stage IIIA includes: T3a, N0, M0. T3a: Uterine corpus adenosarcoma with tumor infiltrating abdominal tissues at one site. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th Ed.)|NCI|N|
C4682585|Stage IIIB includes: T3b, N0, M0. T3b: Uterine corpus adenosarcoma with tumor infiltrating abdominal tissues at more than one site. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th Ed.)|NCI|N|
C4682586|Stage IIIC includes: T1-3, N1, M0. T1: Uterine corpus adenosarcoma with tumor limited to the uterus. T2: Uterine corpus adenosarcoma with tumor extending beyond the uterus, within the pelvis. T3: Uterine corpus adenosarcoma with tumor infiltrating abdominal tissues. N1: Regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th Ed.)|NCI|N|
C4682587|Stage IV includes: IVA: T4, Any N, M0; IVB: Any T, Any N, M1. T4: Uterine corpus adenosarcoma with tumor invading bladder or rectum. M0: No distant metastasis. M1: Distant metastasis (excluding adnexa, pelvic, and abdominal tissues). (from AJCC 8th Ed.)|NCI|N|
C4682588|Stage IVA includes: T4, Any N, M0. T4: Uterine corpus adenosarcoma with tumor invading bladder or rectum. M0: No distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4682589|Stage IVB includes: Any T, Any N, M1. M1: M1: Distant metastasis (excluding adnexa, pelvic, and abdominal tissues). (from AJCC 8th Ed.)|NCI|N|
C4682593|A finding about one or more characteristics of ovarian, fallopian tube, or primary peritoneal carcinoma, following the rules of the TNM AJCC v8 classification system. Nonepithelial primary ovarian cancers may be staged using this classification but should be reported separately. (from AJCC 8th Ed.)|NCI|N|
C4682594|A clinical finding about one or more characteristics of ovarian, fallopian tube, or primary peritoneal carcinoma, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4682595|A clinical finding about one or more characteristics of ovarian, fallopian tube, or primary peritoneal carcinoma, following the rules of the TNM AJCC v8 classification system as they pertain to distant metastases.|NCI|N|
C4682596|Ovarian, fallopian tube, or primary peritoneal carcinoma without evidence of distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4682597|A pathologic finding about one or more characteristics of ovarian, fallopian tube, or primary peritoneal carcinoma, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4682598|A pathologic finding about one or more characteristics of ovarian, fallopian tube, or primary peritoneal carcinoma, following the rules of the TNM AJCC v8 classification system as they pertain to distant metastases.|NCI|N|
C4682599|A pathologic finding about one or more characteristics of ovarian, fallopian tube, or primary peritoneal carcinoma, following the rules of the TNM AJCC v8 classification system as they pertain to staging of the primary tumor. The definitions of the T categories correspond to the stages accepted by FIGO. (from AJCC 8th Ed.)|NCI|N|
C4682600|Ovarian, fallopian tube, or primary peritoneal carcinoma in which the primary tumor cannot be assessed. (from AJCC 8th Ed.)|NCI|N|
C4682601|Ovarian, fallopian tube, or primary peritoneal carcinoma with no evidence of primary tumor. (from AJCC 8th Ed.)|NCI|N|
C4682602|Ovarian, fallopian tube, or primary peritoneal carcinoma with tumor limited to ovaries (one or both) or fallopian tube(s). (from AJCC 8th Ed.)|NCI|N|
C4682603|Ovarian, fallopian tube, or primary peritoneal carcinoma with tumor limited to one ovary (capsule intact) or fallopian tube surface; no malignant cells in ascites or peritoneal washings. (from AJCC 8th Ed.)|NCI|N|
C4682604|Ovarian, fallopian tube, or primary peritoneal carcinoma with tumor limited to one or both ovaries (capsules intact) or fallopian tubes; no tumor on ovarian or fallopian tube surface; no malignant cells in ascites or peritoneal washings. (from AJCC 8th Ed.)|NCI|N|
C4682605|Ovarian, fallopian tube, or primary peritoneal carcinoma with tumor limited to one or both ovaries or fallopian tubes, with any of the following: surgical spill, capsule ruptured before surgery or tumor on ovarian or fallopian tube surface, or malignant cells in ascites or peritoneal washings. (from AJCC 8th Ed.)|NCI|N|
C4682606|Ovarian, fallopian tube, or primary peritoneal carcinoma with tumor limited to one or both ovaries or fallopian tubes, with surgical spill.|NCI|N|
C4682607|Ovarian, fallopian tube, or primary peritoneal carcinoma with tumor limited to one or both ovaries or fallopian tubes, with capsule ruptured before surgery or tumor on ovarian or fallopian tube surface. (from AJCC 8th Ed.)|NCI|N|
C4682608|Ovarian, fallopian tube, or primary peritoneal carcinoma with tumor limited to one or both ovaries or fallopian tubes with malignant cells in ascites or peritoneal washings. (from AJCC 8th Ed.)|NCI|N|
C4682609|Ovarian, fallopian tube, or primary peritoneal carcinoma with tumor involving one or both ovaries or fallopian tubes with pelvic extension below pelvic brim or primary peritoneal cancer. (from AJCC 8th Ed.)|NCI|N|
C4682610|Ovarian, fallopian tube, or primary peritoneal carcinoma with extension and/or implants on the uterus and/or fallopian tube(s) and/or ovaries. (from AJCC 8th Ed.)|NCI|N|
C4682611|Ovarian, fallopian tube, or primary peritoneal carcinoma with extension to and/or implants on other pelvic tissues. (from AJCC 8th Ed.)|NCI|N|
C4682612|Ovarian, fallopian tube, or primary peritoneal carcinoma with tumor involving one or both ovaries or fallopian tubes, or primary peritoneal cancer, with microscopically confirmed peritoneal metastasis outside the pelvis and/or metastasis to the retroperitoneal (pelvic and/or para-aortic) lymph nodes. (from AJCC 8th Ed.)|NCI|N|
C4682613|Ovarian, fallopian tube, or primary peritoneal carcinoma with microscopic extrapelvic (above the pelvic brim) peritoneal involvement with or without positive retroperitoneal lymph nodes. (from AJCC 8th Ed.)|NCI|N|
C4682614|Ovarian, fallopian tube, or primary peritoneal carcinoma with macroscopic peritoneal metastasis beyond pelvis 2 cm or less in greatest dimension with or without metastasis to the retroperitoneal lymph nodes. (from AJCC 8th Ed.)|NCI|N|
C4682615|Ovarian, fallopian tube, or primary peritoneal carcinoma with macroscopic peritoneal metastasis beyond the pelvis more than 2 cm in greatest dimension with or without metastasis to the retroperitoneal lymph nodes (includes extension of tumor to capsule of liver and spleen without parenchymal involvement of either organ). (from AJCC 8th Ed.)|NCI|N|
C4682616|A pathologic finding about one or more characteristics of ovarian, fallopian tube, or primary peritoneal carcinoma, following the rules of the TNM AJCC v8 classification system as they pertain to staging of regional lymph nodes.|NCI|N|
C4682617|Ovarian, fallopian tube, or primary peritoneal carcinoma in which the regional lymph nodes cannot be assessed. (from AJCC 8th Ed.)|NCI|N|
C4682618|Ovarian, fallopian tube, or primary peritoneal carcinoma with no regional lymph node metastasis. (from AJCC 8th Ed.)|NCI|N|
C4682619|Ovarian, fallopian tube, or primary peritoneal carcinoma with isolated tumor cells in regional lymph node(s) no greater than 0.2 mm. (from AJCC 8th Ed.)|NCI|N|
C4682620|Ovarian, fallopian tube, or primary peritoneal carcinoma with positive retroperitoneal lymph nodes only (histologically confirmed). (from AJCC 8th Ed.)|NCI|N|
C4682621|Ovarian, fallopian tube, or primary peritoneal carcinoma with metastasis up to 10 mm in greatest dimension. (from AJCC 8th Ed.)|NCI|N|
C4682622|Ovarian, fallopian tube, or primary peritoneal carcinoma with metastasis more than 10 mm in greatest dimension. (from AJCC 8th Ed.)|NCI|N|
C4682623|A term that refers to the staging of ovarian cancer according to the American Joint Committee on Cancer, 8th edition. This staging system applies to ovarian carcinomas. Nonepithelial primary ovarian cancers may be staged using this classification but should be reported separately. (from AJCC 8th Ed.)|NCI|N|
C4682624|Stage IIIA1 includes: T1/2, N1, M0. T1: Ovarian cancer with tumor limited to ovaries (one or both). T2: Ovarian cancer with tumor involving one or both ovaries with pelvic extension below pelvic brim. N1: Positive retroperitoneal lymph nodes only (histologically confirmed). M0: No distant metastasis. (AJCC 8th Ed.)|NCI|N|
C4682625|Stage IIIA2 includes: T3a, N0/N1, M0. T3a: Ovarian cancer with microscopic extrapelvic (above the pelvic brim) peritoneal involvement with or without positive retroperitoneal lymph nodes. N0: No regional lymph node metastasis. N1: Positive retroperitoneal lymph nodes only (histologically confirmed). M0: No distant metastasis. (AJCC 8th Ed.)|NCI|N|
C4682626|Stage IVA includes: Any T, Any N, M1a. M1a: Ovarian cancer with pleural effusion with positive cytology. (from AJCC 8th Ed.)|NCI|N|
C4682627|Stage IVB includes: Any T, Any N, M1b. M1b: Ovarian cancer with liver or splenic parenchymal metastases; metastases to extra-abdominal organs (including inguinal lymph nodes and lymph nodes outside the abdominal cavity); transmural involvement of intestine. (from AJCC 8th Ed.)|NCI|N|
C4682630|A term that refers to the staging of fallopian tube cancer according to the American Joint Committee on Cancer, 8th edition.|NCI|N|
C4682631|Stage IIIA1 includes: T1/2, N1, M0. T1: T1: Fallopian tube cancer with tumor limited to fallopian tube(s). T2: Fallopian tube cancer with tumor involving fallopian tubes with pelvic extension below pelvic brim. N1: Positive retroperitoneal lymph nodes only (histologically confirmed). M0: No distant metastasis. (AJCC 8th Ed.)|NCI|N|
C4682632|Stage IIIA2 includes: T3a, N0/N1, M0. T3a: T3a: Fallopian tube cancer with microscopic extrapelvic (above the pelvic brim) peritoneal involvement with or without positive retroperitoneal lymph nodes. N0: No regional lymph node metastasis. N1: Positive retroperitoneal lymph nodes only (histologically confirmed). M0: No distant metastasis. (AJCC 8th Ed.)|NCI|N|
C4682633|Stage IVA includes: Any T, Any N, M1a. M1a: Fallopian tube cancer with pleural effusion with positive cytology. (from AJCC 8th Ed.)|NCI|N|
C4682634|Stage IVB includes: Any T, Any N, M1b. M1b: Fallopian tube cancer with liver or splenic parenchymal metastases; metastases to extra-abdominal organs (including inguinal lymph nodes and lymph nodes outside the abdominal cavity); transmural involvement of intestine. (from AJCC 8th Ed.)|NCI|N|
C4682635|A term that refers to the staging of primary peritoneal cancer according to the American Joint Committee on Cancer, 7th edition.|NCI|N|
C4682636|A term that refers to the staging of primary peritoneal cancer according to the American Joint Committee on Cancer, 8th edition.|NCI|N|
C4682637|Stage II includes: T2, N0, M0. T2: Primary peritoneal cancer. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th Ed.)|NCI|N|
C4682638|Stage IIA includes: T2a, N0, M0. T2a: Primary peritoneal cancer with extension and/or implants on the uterus and/or fallopian tube(s) and/or ovaries. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th Ed.)|NCI|N|
C4682639|Stage IIB includes: T2b, N0, M0. T2b: Primary peritoneal cancer with tumor extension to and/or implants on other pelvic tissues. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th Ed.)|NCI|N|
C4682640|Stage IVA includes: Any T, Any N, M1a. M1a: Primary peritoneal cancer with pleural effusion with positive cytology. (from AJCC 8th Ed.)|NCI|N|
C4682641|Stage IVB includes: Any T, Any N, M1b. M1b: Primary peritoneal cancer with liver or splenic parenchymal metastases; metastases to extra-abdominal organs (including inguinal lymph nodes and lymph nodes outside the abdominal cavity); transmural involvement of intestine. (from AJCC 8th Ed.)|NCI|N|
C4682642|A clinical finding about one or more characteristics of a gestational trophoblastic neoplasm, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4682643|A clinical finding about one or more characteristics of a gestational trophoblastic neoplasm, following the rules of the TNM AJCC v8 classification system as they pertain to distant metastases.|NCI|N|
C4682644|Gestational trophoblastic neoplasm without evidence of distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4682645|Gestational trophoblastic neoplasm with distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4682646|A pathologic finding about one or more characteristics of a gestational trophoblastic neoplasm, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4682647|A pathologic finding about one or more characteristics of a gestational trophoblastic neoplasm, following the rules of the TNM AJCC v8 classification system as they pertain to distant metastases.|NCI|N|
C4682648|Gestational trophoblastic neoplasm with distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4682649|A pathologic finding about one or more characteristics of a gestational trophoblastic neoplasm, following the rules of the TNM AJCC v8 classification system as they pertain to staging of the primary tumor.|NCI|N|
C4682650|Gestational trophoblastic neoplasm in which the primary tumor cannot be assessed. (from AJCC 8th Ed.)|NCI|N|
C4682651|Gestational trophoblastic neoplasm with no evidence of primary tumor. (from AJCC 8th Ed.)|NCI|N|
C4682652|Gestational trophoblastic neoplasm in which the tumor is confined to uterus. (from AJCC 8th Ed.)|NCI|N|
C4682653|Gestational trophoblastic neoplasm in which the tumor extends to other genital structures (ovary, tube, vagina, broad ligaments) by metastasis or direct extension. (from AJCC 8th Ed.)|NCI|N|
C4682654|A term that refers to the staging of gestational trophoblastic tumor according to the American Joint Committee on Cancer, 7th edition.|NCI|N|
C4682655|A term that refers to the staging of a gestational trophoblastic neoplasm according to the American Joint Committee on Cancer, 8th edition. This classification applies to the following neoplasms: invasive hydatidiform mole, gestational choriocarcinoma, placental site trophoblastic tumor, and epithelioid trophoblastic tumor. Complete and partial hydatidiform moles are not included in this classification. The current FIGO classification includes an anatomic stage designated by Roman numeral I, II, III, or IV, followed by the risk factor score expressed in Arabic numerals (e.g., Stage II: 4, Stage IV: 9). (from AJCC 8th Ed.)|NCI|N|
C4682656|Stage I includes: T1, M0. T1: Gestational trophoblastic neoplasm in which the tumor is confined to uterus. M0: No distant metastasis. (AJCC 8th Ed.)|NCI|N|
C4682657|Stage II includes: T2, M0. T2: Gestational trophoblastic neoplasm in which the tumor extends to other genital structures (ovary, tube, vagina, broad ligaments) by metastasis or direct extension. M0: No distant metastasis. (AJCC 8th Ed.)|NCI|N|
C4682658|Stage III includes: Any T, M1a. M1a: Gestational trophoblastic neoplasm with lung metastasis. (AJCC 8th Ed.)|NCI|N|
C4682659|Stage IV includes: Any T, M1b. M1b: Gestational trophoblastic neoplasm with all other distant metastases. (AJCC 8th Ed.)|NCI|N|
C4682661|A finding about one or more characteristics of male reproductive system cancer, following the rules of the TNM AJCC v8 classification system. This classification system applies to penile cancer, prostate cancer, and testicular cancer.|NCI|N|
C4682662|A finding about one or more characteristics of penile cancer, following the rules of the TNM AJCC v8 classification system. This classification system applies to penile squamous cell carcinoma and associated histologic subtypes. It does not apply to urethral carcinomas, sarcomas, and melanomas. (from AJCC 8th Ed.)|NCI|N|
C4682663|A clinical finding about one or more characteristics of penile cancer, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4682664|A clinical finding about one or more characteristics of penile cancer, following the rules of the TNM AJCC v8 classification system as they pertain to distant metastases.|NCI|N|
C4682665|Penile cancer without evidence of distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4682666|Penile cancer with distant metastasis present. (from AJCC 8th Ed.)|NCI|N|
C4682667|A clinical finding about one or more characteristics of penile cancer, following the rules of the TNM AJCC v8 classification system as they pertain to staging of regional lymph nodes.|NCI|N|
C4682668|Penile cancer in which the regional lymph nodes cannot be assessed. (from AJCC 8th Ed.)|NCI|N|
C4682669|Penile cancer with no palpable or visibly enlarged inguinal lymph nodes. (from AJCC 8th Ed.)|NCI|N|
C4682670|Penile cancer with palpable mobile unilateral inguinal lymph node. (from AJCC 8th Ed.)|NCI|N|
C4682671|Penile cancer with palpable mobile two or more unilateral inguinal nodes or bilateral inguinal lymph nodes. (from AJCC 8th Ed.)|NCI|N|
C4682672|Penile cancer with palpable fixed inguinal nodal mass or pelvic lymphadenopathy unilateral or bilateral. (from AJCC 8th Ed.)|NCI|N|
C4682673|A pathologic finding about one or more characteristics of penile cancer, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4682674|A pathologic finding about one or more characteristics of penile cancer, following the rules of the TNM AJCC v8 classification system as they pertain to distant metastases.|NCI|N|
C4682675|Penile cancer with distant metastasis present. (from AJCC 8th Ed.)|NCI|N|
C4682676|A pathologic finding about one or more characteristics of penile cancer, following the rules of the TNM AJCC v8 classification system as they pertain to staging of the primary tumor.|NCI|N|
C4682677|Penile cancer in which the primary tumor cannot be assessed. (from AJCC 8th Ed.)|NCI|N|
C4682678|Penile cancer with no evidence of primary tumor. (from AJCC 8th Ed.)|NCI|N|
C4682679|Penile cancer with a finding of carcinoma in situ (penile intraepithelial neoplasia [PeIN]). (from AJCC 8th Ed.)|NCI|N|
C4682680|Penile cancer with a finding of noninvasive localized squamous cell carcinoma. (from AJCC 8th Ed.)|NCI|N|
C4682681|Glans: Penile cancer with tumor invading lamina propria. Foreskin: Penile cancer with tumor invading dermis, lamina propria, or dartos fascia. Shaft: Penile cancer with tumor invading connective tissue between epidermis and corpora regardless of location. All sites with or without lymphovascular invasion or perineural invasion and is or is not high grade. (from AJCC 8th Ed.)|NCI|N|
C4682682|Penile cancer with tumor without lymphovascular invasion or perineural invasion and is not high grade (i.e., grade 3 or sarcomatoid). (from AJCC 8th Ed.)|NCI|N|
C4682683|Penile cancer with tumor exhibiting lymphovascular invasion and/or perineural invasion or is high grade (i.e., grade 3 or sarcomatoid). (from AJCC 8th Ed.)|NCI|N|
C4682684|Penile cancer with tumor invading into corpus spongiosum (either glans or ventral shaft) with or without urethral invasion. (from AJCC 8th Ed.)|NCI|N|
C4682685|Penile cancer with tumor invading into corpora cavernosum (including tunica albuginea) with or without urethral invasion. (from AJCC 8th Ed.)|NCI|N|
C4682686|Penile cancer with tumor invading into adjacent structures (i.e., scrotum, prostate, pubic bone). (from AJCC 8th Ed.)|NCI|N|
C4682687|A pathologic finding about one or more characteristics of penile cancer, following the rules of the TNM AJCC v8 classification system as they pertain to staging of regional lymph nodes.|NCI|N|
C4682688|Penile cancer in which lymph node metastasis cannot be established. (from AJCC 8th Ed.)|NCI|N|
C4682689|Penile cancer with no lymph node metastasis. (from AJCC 8th Ed.)|NCI|N|
C4682690|Penile cancer with two or less unilateral inguinal metastases, no extranodal extension. (from AJCC 8th Ed.)|NCI|N|
C4682691|Penile cancer with three or more unilateral inguinal metastases or bilateral metastases. (from AJCC 8th Ed.)|NCI|N|
C4682692|A term that refers to the staging of penile cancer according to the American Joint Committee on Cancer, 8th edition. This staging system applies to penile squamous cell carcinoma and associated histologic subtypes. It does not apply to urethral carcinomas, sarcomas, and melanomas. (from AJCC 8th Ed.)|NCI|N|
C4682693|Stage 0is includes: Tis, N0, M0. Tis: Penile cancer with a finding of carcinoma in situ (penile intraepithelial neoplasia [PeIN]). N0: No lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4682694|Stage 0a includes: Ta, N0, M0. Ta: Penile cancer with a finding of noninvasive localized squamous cell carcinoma. N0: No lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4682695|Stage IIA includes: (T1b, N0, M0); (T2, N0, M0). T1b: Penile cancer with tumor exhibiting lymphovascular invasion and/or perineural invasion or is high grade (i.e., grade 3 or sarcomatoid). T2: Penile cancer with tumor invading into corpus spongiosum (either glans or ventral shaft) with or without urethral invasion. N0: No lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4682696|Stage IIB includes: T3, N0, M0. T3: Penile cancer with tumor invading into corpora cavernosum (including tunica albuginea) with or without urethral invasion. N0: No lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4682697|An indolent non-Hodgkin lymphoma which has undergone histologic transformation to an aggressive non-Hodgkin lymphoma and has become resistant to treatment.|NCI|N|
C4682711|A clinical finding about one or more characteristics of prostate cancer, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4682712|A clinical finding about one or more characteristics of prostate cancer, following the rules of the TNM AJCC v8 classification system as they pertain to distant metastases.|NCI|N|
C4682713|Prostate cancer without evidence of distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4682714|Prostate cancer with distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4682715|Prostate cancer with metastasis to nonregional lymph node(s). (from AJCC 8th Ed.)|NCI|N|
C4682716|Prostate cancer with metastasis to bone(s). (from AJCC 8th Ed.)|NCI|N|
C4682717|Prostate cancer with metastasis to other site(s) with or without bone disease. (from AJCC 8th Ed.)|NCI|N|
C4682718|A clinical finding about one or more characteristics of prostate cancer, following the rules of the TNM AJCC v8 classification system as they pertain to staging of the primary tumor.|NCI|N|
C4682719|Prostate cancer in which the primary tumor cannot be assessed. (from AJCC 8th Ed.)|NCI|N|
C4682720|Prostate cancer with no evidence of primary tumor. (from AJCC 8th Ed.)|NCI|N|
C4682721|Prostate cancer with clinically inapparent tumor that is not palpable. (from AJCC 8th Ed.)|NCI|N|
C4682722|Prostate cancer in which the tumor is an incidental histologic finding in 5% or less of tissue resected. (from AJCC 8th Ed.)|NCI|N|
C4682723|Prostate cancer in which the tumor is an incidental histologic finding in more than 5% of tissue resected. (from AJCC 8th Ed.)|NCI|N|
C4682724|Prostate cancer in which the tumor is identified by needle biopsy found in one or both sides, but not palpable. (from AJCC 8th Ed.)|NCI|N|
C4682725|Prostate cancer in which the tumor is palpable and confined within the prostate. (from AJCC 8th Ed.)|NCI|N|
C4682726|Prostate cancer in which the tumor involves one-half of one side or less. (from AJCC 8th Ed.)|NCI|N|
C4682727|Prostate cancer in which the tumor involves more than one-half of one side but not both sides. (from AJCC 8th Ed.)|NCI|N|
C4682728|Prostate cancer with extraprostatic tumor that is not fixed or does not invade adjacent structures. (from AJCC 8th Ed.)|NCI|N|
C4682729|Prostate cancer with extraprostatic extension (unilateral or bilateral). (from AJCC 8th Ed.)|NCI|N|
C4682730|Prostate cancer in which the tumor invades seminal vesicle(s). (from AJCC 8th Ed.)|NCI|N|
C4682731|Prostate cancer in which the tumor is fixed or invades adjacent structures other than seminal vesicles such as external sphincter, rectum, bladder, levator muscles, and/or pelvic wall. (from AJCC 8th Ed.)|NCI|N|
C4682732|A pathologic finding about one or more characteristics of prostate cancer, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4682733|A pathologic finding about one or more characteristics of prostate cancer, following the rules of the TNM AJCC v8 classification system as they pertain to distant metastases.|NCI|N|
C4682734|Prostate cancer with distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4682735|Prostate cancer with metastasis to nonregional lymph node(s). (from AJCC 8th Ed.)|NCI|N|
C4682736|Prostate cancer with metastasis to bone(s). (from AJCC 8th Ed.)|NCI|N|
C4682737|Prostate cancer with metastasis to other site(s) with or without bone disease. (from AJCC 8th Ed.)|NCI|N|
C4682738|A pathologic finding about one or more characteristics of prostate cancer, following the rules of the TNM AJCC v8 classification system as they pertain to staging of the primary tumor. There is no pathologic T1 classification.|NCI|N|
C4682739|Prostate cancer which is organ confined. (from AJCC 8th Ed.)|NCI|N|
C4682740|Prostate cancer with extraprostatic extension. (from AJCC 8th Ed.)|NCI|N|
C4682741|Prostate cancer with extraprostatic extension (unilateral or bilateral) or microscopic invasion of bladder neck. (from AJCC 8th Ed.)|NCI|N|
C4682742|Prostate cancer with tumor invading seminal vesicle(s). (from AJCC 8th Ed.)|NCI|N|
C4682743|Prostate cancer in which the tumor is fixed or invades adjacent structures other than seminal vesicles such as external sphincter, rectum, bladder, levator muscles, and/or pelvic wall. (from AJCC 8th Ed.)|NCI|N|
C4682744|A pathologic finding about one or more characteristics of prostate cancer, following the rules of the TNM AJCC v8 classification system as they pertain to staging of regional lymph nodes.|NCI|N|
C4682745|Prostate cancer in which the regional nodes were not assessed. (from AJCC 8th Ed.)|NCI|N|
C4682746|Prostate cancer with no positive regional nodes. (from AJCC 8th Ed.)|NCI|N|
C4682747|Prostate cancer with metastases in regional node(s). (from AJCC 8th Ed.)|NCI|N|
C4682750|A term that refers to the staging of prostate cancer according to the American Joint Committee on Cancer, 8th edition. This staging system applies to adenocarcinomas and squamous cell carcinomas of the prostate gland. It does not apply to sarcomas, urothelial cell carcinomas, and urothelial carcinoma of bladder involving prostate. (from AJCC 8th Ed.)|NCI|N|
C4682751|Stage IIC includes: (T1-2, N0, M0, PSA less than 20, Grade Group 3); (T1-2, N0, M0, PSA less than 20, Grade Group 4). T1: Prostate cancer with clinically inapparent tumor that is not palpable. T2: Prostate cancer in which the tumor is palpable and confined within the prostate. N0: Prostate cancer with no positive regional nodes. M0: Prostate cancer without evidence of distant metastasis. Grade Group 3: Gleason Score 7, Gleason Pattern 4+3. Grade Group 4: Gleason Score 8, Gleason Pattern 4+4. (AJCC 8th ed.)|NCI|N|
C4682752|Stage IIIA includes: T1-2, N0, M0, PSA 20 or more, Grade Group 1-4; T1: Prostate cancer with clinically inapparent tumor that is not palpable. T2: Prostate cancer in which the tumor is palpable and confined within the prostate. N0: Prostate cancer with no positive regional nodes. M0: Prostate cancer without evidence of distant metastasis. Grade Group 1: Gleason Score 6 or less, Gleason Pattern 3 or less+3. Grade Group 2: Gleason Score 7, Gleason Pattern 3+4. Grade Group 3: Gleason Score 7, Gleason Pattern 4+3. Grade Group 4: Gleason Score 8, Gleason Pattern 4+4. (AJCC 8th ed.)|NCI|N|
C4682753|Stage IIIB includes: T3-4, N0, M0, PSA: Any, Grade Group 1-4; T3: Prostate cancer with extraprostatic tumor that is not fixed or does not invade adjacent structures. T4: Prostate cancer in which the tumor is fixed or invades adjacent structures other than seminal vesicles such as external sphincter, rectum, bladder, levator muscles, and/or pelvic wall. N0: Prostate cancer with no positive regional nodes. M0: Prostate cancer without evidence of distant metastasis. Grade Group 1: Gleason Score 6 or less, Gleason Pattern 3 or less+3. Grade Group 2: Gleason Score 7, Gleason Pattern 3+4. Grade Group 3: Gleason Score 7, Gleason Pattern 4+3. Grade Group 4: Gleason Score 8, Gleason Pattern 4+4. (AJCC 8th ed.)|NCI|N|
C4682754|Stage IIIC includes: Any T, N0, M0, PSA: Any, Grade Group 5. N0: Prostate cancer with no positive regional nodes. M0: Prostate cancer without evidence of distant metastasis. Grade Group 5: Gleason Score 9 or 10, Gleason Pattern 4+5, or 5+4, or 5+5. (AJCC 8th ed.)|NCI|N|
C4682755|Stage IVA includes: Any T, N1, M0, PSA: Any, Grade Group: Any. N1: Prostate cancer with metastases in regional node(s). M0: Prostate cancer without evidence of distant metastasis. (AJCC 8th ed.)|NCI|N|
C4682758|Chronic pain following mastectomy or lumpectomy that usually affects the anterior thorax, axilla, and/or medial upper arm.|NCI|N|
C4682759|A finding about one or more characteristics of testicular cancer, following the rules of the TNM AJCC v8 classification system. This classification system applies to postpubertal germ cell tumors of the testis and malignant sex cord-stromal tumors of the testis. It does not apply to spermatocytic tumors (no AJCC staging system), nonmalignant sex cord-/gonadal -stromal tumors (no AJCC staging system), prepubertal germ cell tumors (no AJCC staging system), hematolymphoid tumors (hematologic malignancies staging system), and paratesticular neoplasms (no AJCC staging system). (from AJCC 8th Ed.)|NCI|N|
C4682760|A clinical finding about one or more characteristics of testicular cancer, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4682761|A clinical finding about one or more characteristics of testicular cancer, following the rules of the TNM AJCC v8 classification system as they pertain to distant metastases.|NCI|N|
C4682762|Testicular cancer without evidence of distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4682763|Testicular cancer with distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4682764|Testicular cancer with non-retroperitoneal nodal or pulmonary metastases. (from AJCC 8th Ed.)|NCI|N|
C4682765|Testicular cancer with non-pulmonary visceral metastases. (from AJCC 8th Ed.)|NCI|N|
C4682766|A clinical finding about one or more characteristics of testicular cancer, following the rules of the TNM AJCC v8 classification system as they pertain to staging of the primary tumor.|NCI|N|
C4682767|Testicular cancer in which the primary tumor cannot be assessed. (from AJCC 8th Ed.)|NCI|N|
C4682768|Testicular cancer with no evidence of primary tumor. (from AJCC 8th Ed.)|NCI|N|
C4682769|Testicular cancer with a finding of germ cell neoplasia in situ. (from AJCC 8th Ed.)|NCI|N|
C4682770|Testicular cancer in which the tumor invades scrotum with or without vascular/lymphatic invasion. (from AJCC 8th Ed.)|NCI|N|
C4682771|A clinical finding about one or more characteristics of testicular cancer, following the rules of the TNM AJCC v8 classification system as they pertain to staging of regional lymph nodes.|NCI|N|
C4682772|Testicular cancer in which the regional lymph nodes cannot be assessed. (from AJCC 8th Ed.)|NCI|N|
C4682773|Testicular cancer with no regional lymph node metastasis. (from AJCC 8th Ed.)|NCI|N|
C4682774|Testicular cancer with metastases in a lymph node mass 2 cm or smaller in greatest dimension or multiple lymph nodes, none larger than 2 cm in greatest dimension. (from AJCC 8th Ed.)|NCI|N|
C4682775|Testicular cancer with metastasis with a lymph node mass larger than 2 cm but not larger than 5 cm in greatest dimension or multiple lymph nodes, any one mass larger than 2 cm but not larger than 5 cm in greatest dimension. (from AJCC 8th Ed.)|NCI|N|
C4682776|Testicular cancer with metastasis with a lymph node mass larger than 5 cm in greatest dimensi. (from AJCC 8th Ed.)|NCI|N|
C4682777|A pathologic finding about one or more characteristics of testicular cancer, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4682778|A pathologic finding about one or more characteristics of testicular cancer, following the rules of the TNM AJCC v8 classification system as they pertain to distant metastases.|NCI|N|
C4682779|Testicular cancer with distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4682780|Testicular cancer with non-retroperitoneal nodal or pulmonary metastases. (from AJCC 8th Ed.)|NCI|N|
C4682781|Testicular cancer with non-pulmonary visceral metastases. (from AJCC 8th Ed.)|NCI|N|
C4682782|A pathologic finding about one or more characteristics of testicular cancer, following the rules of the TNM AJCC v8 classification system as they pertain to staging of the primary tumor.|NCI|N|
C4682783|Testicular cancer in which the primary tumor cannot be assessed. (from AJCC 8th Ed.)|NCI|N|
C4682784|Testicular cancer with a finding of germ cell neoplasia in situ. (from AJCC 8th Ed.)|NCI|N|
C4682785|Testicular cancer which is limited to testis (including rete testis invasion) without lymphovascular invasion. (from AJCC 8th Ed.)|NCI|N|
C4682786|Testicular cancer which is limited to testis (including rete testis invasion) without lymphovascular invasion and is smaller than 3 cm in size. This pT1 subclassification applies only to pure seminomas. (from AJCC 8th Ed.)|NCI|N|
C4682787|Testicular cancer which is limited to testis (including rete testis invasion) without lymphovascular invasion and is 3 cm or larger in size. This pT1 subclassification applies only to pure seminomas. (from AJCC 8th Ed.)|NCI|N|
C4682788|Testicular cancer which is limited to testis (including rete testis invasion) with lymphovascular invasion or invades hilar soft tissue or epididymis or penetrates visceral mesothelial layer covering the external surface of tunica albuginea with or without lymphovascular invasion. (from AJCC 8th Ed.)|NCI|N|
C4682789|Testicular cancer in which the tumor invades spermatic cord with or without lymphovascular invasion. (from AJCC 8th Ed.)|NCI|N|
C4682790|Testicular cancer in which the tumor invades scrotum with or without lymphovascular invasion. (from AJCC 8th Ed.)|NCI|N|
C4682791|A pathologic finding about one or more characteristics of testicular cancer, following the rules of the TNM AJCC v8 classification system as they pertain to staging of regional lymph nodes.|NCI|N|
C4682792|Testicular cancer in which the regional lymph nodes cannot be assessed. (from AJCC 8th Ed.)|NCI|N|
C4682793|Testicular cancer with no regional lymph node metastasis. (from AJCC 8th Ed.)|NCI|N|
C4682794|Testicular cancer with metastasis with a lymph node mass 2 cm or smaller in greatest dimension and less than or equal to five nodes positive, none larger than 2 cm in greatest dimension. (from AJCC 8th Ed.)|NCI|N|
C4682795|Testicular cancer with metastasis with a lymph node mass larger than 2 cm but not larger than 5 cm in greatest dimension; or more than five nodes positive, none larger than 5 cm; or evidence of extranodal extension of tumor. (from AJCC 8th Ed.)|NCI|N|
C4682796|Testicular cancer with metastasis with a lymph node mass larger than 5 cm in greatest dimension. (from AJCC 8th Ed.)|NCI|N|
C4682797|A term that refers to the staging of testicular cancer according to the American Joint Committee on Cancer, 8th edition. This staging system applies to postpubertal germ cell tumors of the testis and malignant sex cord-stromal tumors of the testis. It does not apply to spermatocytic tumors (no AJCC staging system), nonmalignant sex cord-/gonadal -stromal tumors (no AJCC staging system), prepubertal germ cell tumors (no AJCC staging system), hematolymphoid tumors (hematologic malignancies staging system), and paratesticular neoplasms (no AJCC staging system). (from AJCC 8th Ed.)|NCI|N|
C4682798|Stage 0 includes: pTis, N0, M0, S0. pTis: Testicular cancer with a finding of germ cell neoplasia in situ. N0: Testicular cancer with no regional lymph node metastasis. M0: Testicular cancer without evidence of distant metastasis. S0: Marker study levels within normal limits. (AJCC 8th ed.)|NCI|N|
C4682799|Stage I includes: pT1-T4, N0, M0, SX. pT1: Testicular cancer which is limited to testis (including rete testis invasion) without lymphovascular invasion. pT2: Testicular cancer which is limited to testis (including rete testis invasion) with lymphovascular invasion or invades hilar soft tissue or epididymis or penetrates visceral mesothelial layer covering the external surface of tunica albuginea with or without lymphovascular invasion. pT3: Testicular cancer in which the tumor invades spermatic cord with or without lymphovascular invasion. pT4: Testicular cancer in which the tumor invades scrotum with or without lymphovascular invasion. N0: Testicular cancer with no regional lymph node metastasis. M0: Testicular cancer without evidence of distant metastasis. SX: Marker studies not available or not performed. (AJCC 8th ed.)|NCI|N|
C4682800|Stage IA includes: pT1, N0, M0, S0. pT1: Testicular cancer which is limited to testis (including rete testis invasion) without lymphovascular invasion. N0: Testicular cancer with no regional lymph node metastasis. M0: Testicular cancer without evidence of distant metastasis. S0: Marker study levels within normal limits. (AJCC 8th ed.)|NCI|N|
C4682801|Stage IB includes: (pT2, N0, M0, S0); (pT3, N0, M0, S0); (pT4, N0, M0, S0). pT2: Testicular cancer which is limited to testis (including rete testis invasion) with lymphovascular invasion or invades hilar soft tissue or epididymis or penetrates visceral mesothelial layer covering the external surface of tunica albuginea with or without lymphovascular invasion. pT3: Testicular cancer in which the tumor invades spermatic cord with or without lymphovascular invasion. pT4: Testicular cancer in which the tumor invades scrotum with or without lymphovascular invasion. N0: Testicular cancer with no regional lymph node metastasis. M0: Testicular cancer without evidence of distant metastasis. S0: Marker study levels within normal limits. (AJCC 8th ed.)|NCI|N|
C4682802|Stage IS includes: Any pT/TX, N0, M0, S1-3. TX: Testicular cancer in which the primary tumor cannot be assessed. N0: Testicular cancer with no regional lymph node metastasis. M0: Testicular cancer without evidence of distant metastasis. S1: LDH less than 1.5 x N and hCG (mlU/mL) less than 5,000 and AFP (ng/mL) less than 1,000. S2: LDH 1.5-10 x N or hCG (mlU/mL) 5,000-50,000 or AFP (ng/mL) 1,000-10,000. S3: LDH more than 10 x N or hCG (mlU/mL) more than 50,000 or AFP (ng/mL) more than 10,000. N indicates the upper limit of normal for the LDH assay. (AJCC 8th ed.)|NCI|N|
C4682803|Stage II includes: Any pT/TX, N1-3, M0, SX. TX: Testicular cancer in which the primary tumor cannot be assessed. N1: Testicular cancer with metastasis with a lymph node mass 2 cm or smaller in greatest dimension and less than or equal to five nodes positive, none larger than 2 cm in greatest dimension. N2: Testicular cancer with metastasis with a lymph node mass larger than 2 cm but not larger than 5 cm in greatest dimension; or more than five nodes positive, none larger than 5 cm; or evidence of extranodal extension of tumor. N3: Testicular cancer with metastasis with a lymph node mass larger than 5 cm in greatest dimension. M0: Testicular cancer without evidence of distant metastasis. SX: Marker studies not available or not performed. (AJCC 8th ed.)|NCI|N|
C4682804|Stage IIA includes: (Any pT/TX, N1, M0, S0); (Any pT/TX, N1, M0, S1). TX: Testicular cancer in which the primary tumor cannot be assessed. N1: Testicular cancer with metastasis with a lymph node mass 2 cm or smaller in greatest dimension and less than or equal to five nodes positive, none larger than 2 cm in greatest dimension. M0: Testicular cancer without evidence of distant metastasis. S0: Marker study levels within normal limits. S1: LDH less than 1.5 x N and hCG (mlU/mL) less than 5,000 and AFP (ng/mL) less than 1,000. N indicates the upper limit of normal for the LDH assay. (AJCC 8th ed.)|NCI|N|
C4682805|Stage IIB includes: (Any pT/TX, N2, M0, S0); (Any pT/TX, N2, M0, S1). TX: Testicular cancer in which the primary tumor cannot be assessed. N2: Testicular cancer with metastasis with a lymph node mass larger than 2 cm but not larger than 5 cm in greatest dimension; or more than five nodes positive, none larger than 5 cm; or evidence of extranodal extension of tumor. M0: Testicular cancer without evidence of distant metastasis. S0: Marker study levels within normal limits. S1: LDH less than 1.5 x N and hCG (mlU/mL) less than 5,000 and AFP (ng/mL) less than 1,000. N indicates the upper limit of normal for the LDH assay. (AJCC 8th ed.)|NCI|N|
C4682806|Stage III includes: Any pT/TX, Any N, M1, SX. TX: Testicular cancer in which the primary tumor cannot be assessed. M1: Testicular cancer with distant metastasis. SX: Marker studies not available or not performed. (AJCC 8th ed.)|NCI|N|
C4682807|Stage IIIA includes: (Any pT/TX, Any N, M1a, S0); (Any pT/TX, Any N, M1a, S1). TX: Testicular cancer in which the primary tumor cannot be assessed. M1a: Testicular cancer with non-retroperitoneal nodal or pulmonary metastases. S0: Marker study levels within normal limits. S1: LDH less than 1.5 x N and hCG (mlU/mL) less than 5,000 and AFP (ng/mL) less than 1,000. N indicates the upper limit of normal for the LDH assay. (AJCC 8th ed.)|NCI|N|
C4682808|Stage IIIB includes: (Any pT/TX, N1-3, M0, S2); (Any pT/TX, Any N, M1a, S2). TX: Testicular cancer in which the primary tumor cannot be assessed. N1: Testicular cancer with metastasis with a lymph node mass 2 cm or smaller in greatest dimension and less than or equal to five nodes positive, none larger than 2 cm in greatest dimension. N2: Testicular cancer with metastasis with a lymph node mass larger than 2 cm but not larger than 5 cm in greatest dimension; or more than five nodes positive, none larger than 5 cm; or evidence of extranodal extension of tumor. N3: Testicular cancer with metastasis with a lymph node mass larger than 5 cm in greatest dimension. M0: Testicular cancer without evidence of distant metastasis. M1a: Testicular cancer with non-retroperitoneal nodal or pulmonary metastases. S2: LDH 1.5-10 x N or hCG (mlU/mL) 5,000-50,000 or AFP (ng/mL) 1,000-10,000. N indicates the upper limit of normal for the LDH assay. (AJCC 8th ed.)|NCI|N|
C4682809|Stage IIIC includes: (Any pT/TX, N1-3, M0, S3); (Any pT/TX, Any N, M1a, S3); (Any pT/TX, Any N, M1b, Any S). TX: Testicular cancer in which the primary tumor cannot be assessed. N1: Testicular cancer with metastasis with a lymph node mass 2 cm or smaller in greatest dimension and less than or equal to five nodes positive, none larger than 2 cm in greatest dimension. N2: Testicular cancer with metastasis with a lymph node mass larger than 2 cm but not larger than 5 cm in greatest dimension; or more than five nodes positive, none larger than 5 cm; or evidence of extranodal extension of tumor. N3: Testicular cancer with metastasis with a lymph node mass larger than 5 cm in greatest dimension. M0: Testicular cancer without evidence of distant metastasis. M1a: Testicular cancer with non-retroperitoneal nodal or pulmonary metastases. M1b: Testicular cancer with non-pulmonary visceral metastases. S3: LDH more than 10 x N or hCG (mlU/mL) more than 50,000 or AFP (ng/mL) more than 10,000. N indicates the upper limit of normal for the LDH assay. (AJCC 8th ed.)|NCI|N|
C4682810|A term that refers to the staging of testicular cancer according to the American Joint Committee on Cancer, 6th and 7th editions.|NCI|N|
C4682811|A nucleotide substitution at position 35 of the coding sequence of the NRAS gene where guanine has been mutated to thymine.|NCI|N|
C4682812|A change in the amino acid residue at position 12 in the GTPase NRas protein where glycine has been replaced by valine.|NCI|N|
C4682813|A nucleotide substitution at position 35 of the coding sequence of the HRAS gene where guanine has been mutated to thymine.|NCI|N|
C4682814|A variation in the amino acid sequence for the GTPase HRas protein.|NCI|N|
C4682815|A complex substitution where the nucleotide sequence at positions 35 and 36 of the coding sequence of the HRAS gene has changed from guanine-cytosine to thymine-adenine.|NCI|N|
C4682816|A change in the amino acid residue at position 12 in the GTPase HRas protein where glycine has been replaced by valine.|NCI|N|
C4682820|Macular dystrophy that is related to a change in a gene.|NCI|N|
C4682825|A finding about one or more characteristics of urinary tract cancer, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4682826|A finding about one or more characteristics of kidney cancer, following the rules of the TNM AJCC v8 classification system. This classification system applies to carcinomas arising in the kidney. It does not apply to urothelial carcinomas (are staged according to the classification for renal pelvis and ureter), lymphomas (are staged according to the classification for Hodgkin and non-Hodgkin lymphoma), sarcomas (are staged according to the classification for soft tissue sarcoma of the abdomen and thoracic visceral organs), and Wilms tumor (no AJCC staging system). (from AJCC 8th Ed.)|NCI|N|
C4682827|A clinical finding about one or more characteristics of kidney cancer, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4682828|A clinical finding about one or more characteristics of kidney cancer, following the rules of the TNM AJCC v8 classification system as they pertain to distant metastases.|NCI|N|
C4682829|Kidney cancer without evidence of distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4682830|Kidney cancer with distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4682831|A pathologic finding about one or more characteristics of kidney cancer, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4682832|A pathologic finding about one or more characteristics of kidney cancer, following the rules of the TNM AJCC v8 classification system as they pertain to distant metastases.|NCI|N|
C4682833|Kidney cancer with distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4682834|A pathologic finding about one or more characteristics of kidney cancer, following the rules of the TNM AJCC v8 classification system as they pertain to staging of the primary tumor.|NCI|N|
C4682835|Kidney cancer in which the primary tumor cannot be assessed. (from AJCC 8th Ed.)|NCI|N|
C4682836|Kidney cancer with no evidence of primary tumor. (from AJCC 8th Ed.)|NCI|N|
C4682837|Kidney cancer in which the tumor measures 4 cm or less in greatest dimension and is limited to the kidney. (from AJCC 8th Ed.)|NCI|N|
C4682838|Kidney cancer in which the tumor measures more than 4 cm but 7 cm or less in greatest dimension and is limited to the kidney. (from AJCC 8th Ed.)|NCI|N|
C4682839|Kidney cancer in which the tumor measures more than 7 cm in greatest dimension and is limited to the kidney. (from AJCC 8th Ed.)|NCI|N|
C4682840|Kidney cancer in which the tumor measures more than 7 cm but 10 cm or less in greatest dimension and is limited to the kidney. (from AJCC 8th Ed.)|NCI|N|
C4682841|Kidney cancer in which the tumor measures more than 10 cm in greatest dimension and is limited to the kidney. (from AJCC 8th Ed.)|NCI|N|
C4682842|Kidney cancer in which the tumor extends into major veins or perinephric tissues, but not into the ipsilateral adrenal gland and not beyond Gerota''s fascia. (from AJCC 8th Ed.)|NCI|N|
C4682843|Kidney cancer in which the tumor extends into the renal vein or its segmental branches, or invades the pelvicalyceal system, or invades perirenal and/or renal sinus fat but not beyond Gerota''s fascia. (from AJCC 8th Ed.)|NCI|N|
C4682844|Kidney cancer in which the tumor extends into the vena cava below the diaphragm. (from AJCC 8th Ed.)|NCI|N|
C4682845|Kidney cancer in which the tumor extends into the vena cava above the diaphragm or invades the wall of the vena cava. (from AJCC 8th Ed.)|NCI|N|
C4682846|Kidney cancer in which the tumor invades beyond Gerota''s fascia (including contiguous extension into the ipsilateral adrenal gland). (from AJCC 8th Ed.)|NCI|N|
C4682847|A pathologic finding about one or more characteristics of kidney cancer, following the rules of the TNM AJCC v8 classification system as they pertain to staging of regional lymph nodes.|NCI|N|
C4682848|Kidney cancer in which the regional lymph nodes cannot be assessed. (from AJCC 8th Ed.)|NCI|N|
C4682849|Kidney cancer with no regional lymph node metastasis. (from AJCC 8th Ed.)|NCI|N|
C4682850|Kidney cancer with metastasis in regional lymph node(s). (from AJCC 8th Ed.)|NCI|N|
C4682862|A term that refers to the staging of kidney cancer according to the American Joint Committee on Cancer, 8th edition. This staging system applies to carcinomas arising in the kidney. It does not apply to urothelial carcinomas (are staged according to the classification for renal pelvis and ureter), lymphomas (are staged according to the classification for Hodgkin and non-Hodgkin lymphoma), sarcomas (are staged according to the classification for soft tissue sarcoma of the abdomen and thoracic visceral organs), and Wilms tumor (no AJCC staging system). (from AJCC 8th Ed.)|NCI|N|
C4682864|A non-functioning neuroendocrine tumor that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C4682865|A non-functioning, well-differentiated neuroendocrine neoplasm that has spread from the original site of growth to another anatomic site.|NCI|N|
C4682866|A semi-quantitative microscopic finding indicating that 25 percent or more of the nucleated cells in a bone marrow sample are immature mononuclear cells.|NCI|N|
C4682867|A clinical finding about one or more characteristics of renal pelvis and ureter cancer, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4682868|A clinical finding about one or more characteristics of renal pelvis and ureter cancer, following the rules of the TNM AJCC v8 classification system as they pertain to distant metastases.|NCI|N|
C4682869|Renal pelvis and ureter cancer without evidence of distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4682870|Renal pelvis and ureter cancer with distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4682871|A pathologic finding about one or more characteristics of renal pelvis and ureter cancer, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4682872|A pathologic finding about one or more characteristics of renal pelvis and ureter cancer, following the rules of the TNM AJCC v8 classification system as they pertain to distant metastases.|NCI|N|
C4682873|Renal pelvis and ureter cancer with distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4682874|A pathologic finding about one or more characteristics of renal pelvis and ureter cancer, following the rules of the TNM AJCC v8 classification system as they pertain to staging of the primary tumor.|NCI|N|
C4682875|Renal pelvis and ureter cancer in which the primary tumor cannot be assessed. (from AJCC 8th Ed.)|NCI|N|
C4682876|Renal pelvis and ureter cancer with no evidence of primary tumor. (from AJCC 8th Ed.)|NCI|N|
C4682877|Renal pelvis and ureter cancer with a finding of papillary noninvasive carcinoma. (from AJCC 8th Ed.)|NCI|N|
C4682878|Renal pelvis and ureter cancer with a finding of carcinoma in situ. (from AJCC 8th Ed.)|NCI|N|
C4682879|Renal pelvis and ureter cancer in which the tumor invades subepithelial connective tissue. (from AJCC 8th Ed.)|NCI|N|
C4682880|Renal pelvis and ureter cancer in which the tumor invades the muscularis. (from AJCC 8th Ed.)|NCI|N|
C4682881|For renal pelvis only: Tumor invades beyond muscularis into peripelvic fat or into the renal parenchyma. For ureter only: Tumor invades beyond muscularis into periureteric fat. (from AJCC 8th Ed.)|NCI|N|
C4682882|Renal pelvis and ureter cancer in which the tumor invades adjacent organs, or through the kidney into the perinephric fat. (from AJCC 8th Ed.)|NCI|N|
C4682883|A pathologic finding about one or more characteristics of renal pelvis and ureter cancer, following the rules of the TNM AJCC v8 classification system as they pertain to staging of regional lymph nodes.|NCI|N|
C4682884|Renal pelvis and ureter cancer in which the regional lymph nodes cannot be assessed. (from AJCC 8th Ed.)|NCI|N|
C4682885|Renal pelvis and ureter cancer with no regional lymph node metastasis. (from AJCC 8th Ed.)|NCI|N|
C4682886|Renal pelvis and ureter cancer with metastasis in a single lymph node, 2 cm or less in greatest dimension. (from AJCC 8th Ed.)|NCI|N|
C4682887|Renal pelvis and ureter cancer with metastasis in a single lymph node, more than 2 cm in greatest dimension; or multiple lymph nodes. (from AJCC 8th Ed.)|NCI|N|
C4682890|A term that refers to the staging of renal pelvis and ureter cancer according to the American Joint Committee on Cancer, 8th edition. This staging system applies to renal pelvis and ureter urothelial (transitional cell) carcinoma, including histologic variants micropapillary and nested subtypes. It does not apply to renal cell carcinomas (are staged according to the classification for kidney), renal medullary carcinomas (are staged according to the classification for kidney), collecting duct carcinomas (are staged according to the classification for kidney), lymphomas (are staged according to the classification for Hodgkin and non-Hodgkin lymphoma), and mesenchymal tumors (are staged according to the classification for soft tissue sarcoma of the abdomen and thoracic visceral organs). (from AJCC 8th Ed.)|NCI|N|
C4682891|A term that refers to the staging of renal pelvis cancer according to the American Joint Committee on Cancer, 8th edition. This staging system applies to renal pelvis urothelial (transitional cell) carcinoma, including histologic variants micropapillary and nested subtypes. It does not apply to renal cell carcinomas (are staged according to the classification for kidney), renal medullary carcinomas (are staged according to the classification for kidney), collecting duct carcinomas (are staged according to the classification for kidney), lymphomas (are staged according to the classification for Hodgkin and non-Hodgkin lymphoma), and mesenchymal tumors (are staged according to the classification for soft tissue sarcoma of the abdomen and thoracic visceral organs). (from AJCC 8th Ed.)|NCI|N|
C4682892|A term that refers to the staging of ureter cancer according to the American Joint Committee on Cancer, 8th edition. This staging system applies to ureter urothelial (transitional cell) carcinoma, including histologic variants micropapillary and nested subtypes. (from AJCC 8th Ed.)|NCI|N|
C4682893|A term that refers to the staging of renal pelvis and ureter cancer according to the American Joint Committee on Cancer, 7th edition.|NCI|N|
C4682894|A term that refers to the staging of renal pelvis cancer according to the American Joint Committee on Cancer, 7th edition.|NCI|N|
C4682895|A term that refers to the staging of ureter cancer according to the American Joint Committee on Cancer, 7th edition.|NCI|N|
C4682897|A finding about one or more characteristics of bladder cancer, following the rules of the TNM AJCC v8 classification system. This classification system applies to carcinomas arising in the bladder. The typical carcinoma of the bladder is urothelial carcinoma. These carcinomas may include other histologic elements, including adenocarcinoma, squamous cell carcinoma, and small cell neuroendocrine carcinoma, but should be classified as urothelial unless the cancer is composed entirely of the alternative histology. All histologic cell types that are derived primarily from the urinary bladder epithelium should follow this classification system. It does not apply to prostatic urothelial carcinomas (are staged according to the classification for urethra), lymphomas (are staged according to the classification for Hodgkin and non-Hodgkin lymphoma), and sarcomas (are staged according to the classification for soft tissue sarcoma of the abdomen and thoracic visceral organs). (from AJCC 8th Ed.)|NCI|N|
C4682898|A clinical finding about one or more characteristics of bladder cancer, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4682899|A clinical finding about one or more characteristics of bladder cancer, following the rules of the TNM AJCC v8 classification system as they pertain to distant metastases.|NCI|N|
C4682900|Bladder cancer without evidence of distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4682901|Bladder cancer with distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4682902|Bladder cancer with distant metastasis limited to lymph nodes beyond the common iliacs. (from AJCC 8th Ed.)|NCI|N|
C4682903|Bladder cancer with non-lymph node distant metastases. (from AJCC 8th Ed.)|NCI|N|
C4682904|A pathologic finding about one or more characteristics of bladder cancer, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4682905|A pathologic finding about one or more characteristics of bladder cancer, following the rules of the TNM AJCC v8 classification system as they pertain to distant metastases.|NCI|N|
C4682906|Bladder cancer with distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4682907|Bladder cancer with distant metastasis limited to lymph nodes beyond the common iliacs. (from AJCC 8th Ed.)|NCI|N|
C4682908|Bladder cancer with non-lymph node distant metastases. (from AJCC 8th Ed.)|NCI|N|
C4682909|A pathologic finding about one or more characteristics of bladder cancer, following the rules of the TNM AJCC v8 classification system as they pertain to staging of the primary tumor.|NCI|N|
C4682910|Bladder cancer in which the primary tumor cannot be assessed. (from AJCC 8th Ed.)|NCI|N|
C4682911|Bladder cancer with no evidence of primary tumor. (from AJCC 8th Ed.)|NCI|N|
C4682912|Bladder cancer with a finding of non-invasive papillary carcinoma. (from AJCC 8th Ed.)|NCI|N|
C4682913|Bladder cancer with a finding of urothelial carcinoma in situ: ""flat tumor"". (from AJCC 8th Ed.)|NCI|N|
C4682914|Bladder cancer with tumor invading lamina propria (subepithelial connective tissue). (from AJCC 8th Ed.)|NCI|N|
C4682915|Bladder cancer with tumor invading muscularis propria. (from AJCC 8th Ed.)|NCI|N|
C4682916|Bladder cancer with tumor invading superficial muscularis propria (inner half). (from AJCC 8th Ed.)|NCI|N|
C4682917|Bladder cancer with tumor invading deep muscularis propria (outer half). (from AJCC 8th Ed.)|NCI|N|
C4682918|Bladder cancer with tumor invading perivesical soft tissue. (from AJCC 8th Ed.)|NCI|N|
C4682919|Bladder cancer with tumor invading perivesical soft tissue, microscopically. (from AJCC 8th Ed.)|NCI|N|
C4682920|Bladder cancer with extravesical tumor directly invading any of the following: prostatic stroma, seminal vesicles, uterus, vagina, pelvic wall, abdominal wall. (from AJCC 8th Ed.)|NCI|N|
C4682921|Bladder cancer with extravesical tumor invading directly into prostatic stroma, uterus, vagina. (from AJCC 8th Ed.)|NCI|N|
C4682922|Bladder cancer with extravesical tumor invading pelvic wall, abdominal wall. (from AJCC 8th Ed.)|NCI|N|
C4682923|A pathologic finding about one or more characteristics of bladder cancer, following the rules of the TNM AJCC v8 classification system as they pertain to staging of regional lymph nodes.|NCI|N|
C4682924|Bladder cancer in which the lymph nodes cannot be assessed. (from AJCC 8th Ed.)|NCI|N|
C4682925|Bladder cancer with no lymph node metastasis. (from AJCC 8th Ed.)|NCI|N|
C4682926|Bladder cancer with single regional lymph node metastasis in the true pelvis (perivesical, obturator, internal and external iliac, or sacral lymph node). (from AJCC 8th Ed.)|NCI|N|
C4682927|Bladder cancer with multiple regional lymph node metastasis in the true pelvis (perivesical, obturator, internal and external iliac, or sacral lymph node metastasis). (from AJCC 8th Ed.)|NCI|N|
C4682928|Bladder cancer with lymph node metastasis to the common iliac lymph nodes. (from AJCC 8th Ed.)|NCI|N|
C4682930|A change in the amino acid residue at position 172 in the isocitrate dehydrogenase [NADP], mitochondrial protein where arginine has been replaced by tryptophan.|NCI|N|
C4682931|A nucleotide substitution at position 514 of the coding sequence of the IDH2 gene where adenine has been mutated to thymine.|NCI|N|
C4682932|A term that refers to the staging of bladder cancer according to the American Joint Committee on Cancer, 8th edition. This staging system applies to carcinomas arising in the bladder. The typical carcinoma of the bladder is urothelial carcinoma. These carcinomas may include other histologic elements, including adenocarcinoma, squamous cell carcinoma, and small cell neuroendocrine carcinoma, but should be classified as urothelial unless the cancer is composed entirely of the alternative histology. All histologic cell types that are derived primarily from the urinary bladder epithelium should follow this staging system. It does not apply to prostatic urothelial carcinomas (are staged according to the classification for urethra), lymphomas (are staged according to the classification for Hodgkin and non-Hodgkin lymphoma), and sarcomas (are staged according to the classification for soft tissue sarcoma of the abdomen and thoracic visceral organs). (from AJCC 8th Ed.)|NCI|N|
C4682933|Stage IIIB includes: T1-T4a, N2, N3, M0. T1: Tumor invades lamina propria (subepithelial connective tissue). T2: Tumor invades muscularis propria. T3: Tumor invades perivesical soft tissue. T4a: Extravesical tumor invades directly into prostatic stroma, uterus, vagina. N2: Multiple regional lymph node metastasis in the true pelvis (perivesical, obturator, internal and external iliac, or sacral lymph node metastasis). N3: Lymph node metastasis to the common iliac lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4682935|A finding about one or more characteristics of urethral cancer, following the rules of the TNM AJCC v8 classification system. This classification system applies to urothelial (transitional cell), squamous, and glandular carcinomas of the urethra and to urothelial (transitional cell) carcinomas of the prostate and prostatic urethra. It does not apply to squamous cell carcinomas of the penile foreskin (are staged according to the classification for penis), primary urothelial carcinomas of the bladder with transmural involvement of the prostate (are staged according to the classification for urinary bladder), prostatic adenocarcinomas (are staged according to the classification for prostate), mucosal melanomas of the urethra (no AJCC staging system), lymphomas (are staged according to the classification for Hodgkin and non-Hodgkin lymphoma), and sarcomas (are staged according to the classification for soft tissue sarcoma of the abdomen and thoracic visceral organs). (from AJCC 8th Ed.)|NCI|N|
C4682936|A clinical finding about one or more characteristics of urethral cancer, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4682937|A clinical finding about one or more characteristics of urethral cancer, following the rules of the TNM AJCC v8 classification system as they pertain to distant metastases.|NCI|N|
C4682938|Urethral cancer without evidence of distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4682939|Urethral cancer with distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4682940|A pathologic finding about one or more characteristics of urethral cancer, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4682941|A pathologic finding about one or more characteristics of urethral cancer, following the rules of the TNM AJCC v8 classification system as they pertain to distant metastases.|NCI|N|
C4682942|Urethral cancer with distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4682943|A pathologic finding about one or more characteristics of urethral cancer, following the rules of the TNM AJCC v8 classification system as they pertain to staging of the primary tumor.|NCI|N|
C4682944|A pathologic finding about one or more characteristics of cancer in the male penile urethra and female urethra, following the rules of the TNM AJCC v8 classification system as they pertain to staging of the primary tumor.|NCI|N|
C4682945|Urethral cancer in which the primary tumor cannot be assessed. (from AJCC 8th Ed.)|NCI|N|
C4682946|Urethral cancer with no evidence of primary tumor. (from AJCC 8th Ed.)|NCI|N|
C4682947|Urethral cancer with a finding of non-invasive papillary carcinoma. (from AJCC 8th Ed.)|NCI|N|
C4682948|Urethral cancer with a finding of carcinoma in situ. (from AJCC 8th Ed.)|NCI|N|
C4682949|Urethral cancer with tumor invading subepithelial connective tissue. (from AJCC 8th Ed.)|NCI|N|
C4682950|Urethral cancer with tumor invading any of the following: corpus spongiosum, periurethral muscle. (from AJCC 8th Ed.)|NCI|N|
C4682951|Urethral cancer with tumor invading any of the following: corpus cavernosum, anterior vagina. (from AJCC 8th Ed.)|NCI|N|
C4682952|Urethral cancer with tumor invading other adjacent organs (e.g., invasion of the bladder wall). (from AJCC 8th Ed.)|NCI|N|
C4682953|A pathologic finding about one or more characteristics of cancer in the prostatic urethra, following the rules of the TNM AJCC v8 classification system as they pertain to staging of the primary tumor.|NCI|N|
C4682954|Urethral cancer with a finding of carcinoma in situ involving the prostatic urethra or periurethral or prostatic ducts without stromal invasion. (from AJCC 8th Ed.)|NCI|N|
C4682955|Urethral cancer with tumor invading urethral subepithelial connective tissue immediately underlying the urothelium. (from AJCC 8th Ed.)|NCI|N|
C4682956|Urethral cancer with tumor invading the prostatic stroma surrounding ducts either by direct extension from the urothelial surface or by invasion from prostatic ducts. (from AJCC 8th Ed.)|NCI|N|
C4682957|Urethral cancer with tumor invading the periprostatic fat. (from AJCC 8th Ed.)|NCI|N|
C4682958|Urethral cancer with tumor invading other adjacent organs (e.g., extraprostatic invasion of the bladder wall, rectal wall). (from AJCC 8th Ed.)|NCI|N|
C4682959|A pathologic finding about one or more characteristics of urethral cancer, following the rules of the TNM AJCC v8 classification system as they pertain to staging of regional lymph nodes.|NCI|N|
C4682960|Urethral cancer in which the regional lymph nodes cannot be assessed. (from AJCC 8th Ed.)|NCI|N|
C4682961|Urethral cancer with no regional lymph node metastasis. (from AJCC 8th Ed.)|NCI|N|
C4682962|Urethral cancer with single regional lymph node metastasis in the inguinal region or true pelvis [perivesical, obturator, internal (hypogastric) and external iliac], or presacral lymph node. (from AJCC 8th Ed.)|NCI|N|
C4682963|A term that refers to the staging of urethral cancer according to the American Joint Committee on Cancer, 8th edition. This staging system applies to urothelial (transitional cell), squamous, and glandular carcinomas of the urethra and to urothelial (transitional cell) carcinomas of the prostate and prostatic urethra. It does not apply to squamous cell carcinomas of the penile foreskin (are staged according to the classification for penis), primary urothelial carcinomas of the bladder with transmural involvement of the prostate (are staged according to the classification for urinary bladder), prostatic adenocarcinomas (are staged according to the classification for prostate), mucosal melanomas of the urethra (no AJCC staging system), lymphomas (are staged according to the classification for Hodgkin and non-Hodgkin lymphoma), and sarcomas (are staged according to the classification for soft tissue sarcoma of the abdomen and thoracic visceral organs). (from AJCC 8th Ed.)|NCI|N|
C4682964|A term that refers to the staging of urethral cancer according to the American Joint Committee on Cancer, 7th edition.|NCI|N|
C4682967|A finding about one or more characteristics of ophthalmic sites cancer, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4682968|A finding about one or more characteristics of eyelid carcinoma, following the rules of the TNM AJCC v8 classification system. This classification system applies to all primary carcinomas of the eyelid, including basal cell carcinoma (BCC), squamous cell carcinoma (SCC), sebaceous carcinoma, and other rare carcinomas, such as all varieties of sweat gland carcinoma (e.g., eccrine carcinoma). It does not apply to carcinomas of the head and neck with direct extension to eyelid (are staged according to the cutaneous squamous cell carcinomas of the head and neck), Merkel cell carcinomas of the eyelid (are staged according to the classification for Merkel cell carcinomas), and melanomas of the eyelid (are staged according to the classification for melanomas of the skin). (from AJCC 8th Ed.)|NCI|N|
C4682969|A clinical finding about one or more characteristics of eyelid carcinoma, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4682970|A clinical finding about one or more characteristics of eyelid carcinoma, following the rules of the TNM AJCC v8 classification system as they pertain to distant metastases.|NCI|N|
C4682971|Eyelid carcinoma with no evidence of distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4682972|Eyelid carcinoma with distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4682973|A clinical finding about one or more characteristics of eyelid carcinoma, following the rules of the TNM AJCC v8 classification system as they pertain to staging of regional lymph nodes.|NCI|N|
C4682974|Eyelid carcinoma in which the regional lymph nodes cannot be assessed. (from AJCC 8th Ed.)|NCI|N|
C4682975|Eyelid carcinoma with no evidence of lymph node involvement. (from AJCC 8th Ed.)|NCI|N|
C4682976|Eyelid carcinoma with metastasis in a single ipsilateral regional lymph node, measuring 3 cm or less in greatest dimension. (from AJCC 8th Ed.)|NCI|N|
C4682977|Eyelid carcinoma with metastasis in a single ipsilateral regional lymph node, measuring 3 cm or less in greatest dimension based on clinical evaluation or imaging findings. (from AJCC 8th Ed.)|NCI|N|
C4682978|Eyelid carcinoma with metastasis in a single ipsilateral regional lymph node, measuring more than 3 cm in greatest dimension, or in bilateral or contralateral lymph nodes. (from AJCC 8th Ed.)|NCI|N|
C4682979|Eyelid carcinoma with metastasis in a single ipsilateral regional lymph node, measuring more than 3 cm in greatest dimension, or in bilateral or contralateral lymph nodes documented based on clinical evaluation or imaging findings. (from AJCC 8th Ed.)|NCI|N|
C4682980|A pathologic finding about one or more characteristics of eyelid carcinoma, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4682981|A pathologic finding about one or more characteristics of eyelid carcinoma, following the rules of the TNM AJCC v8 classification system as they pertain to distant metastases.|NCI|N|
C4682982|Eyelid carcinoma with distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4682983|A pathologic finding about one or more characteristics of eyelid carcinoma, following the rules of the TNM AJCC v8 classification system as they pertain to staging of the primary tumor.|NCI|N|
C4682984|Eyelid carcinoma in which the primary tumor cannot be assessed. (from AJCC 8th Ed.)|NCI|N|
C4682985|Eyelid carcinoma with no evidence of primary tumor. (from AJCC 8th Ed.)|NCI|N|
C4682986|Eyelid carcinoma with a finding of carcinoma in situ. (from AJCC 8th Ed.)|NCI|N|
C4682987|Eyelid carcinoma with tumor measuring 10 mm or less in greatest dimension. (from AJCC 8th Ed.)|NCI|N|
C4682988|Eyelid carcinoma with tumor measuring 10 mm or less in greatest dimension without invasion of the tarsal plate or eyelid margin. (from AJCC 8th Ed.)|NCI|N|
C4682989|Eyelid carcinoma with tumor measuring 10 mm or less in greatest dimension with invasion of the tarsal plate or eyelid margin. (from AJCC 8th Ed.)|NCI|N|
C4682990|Eyelid carcinoma with tumor measuring 10 mm or less in greatest dimension involving the full thickness of the eyelid. (from AJCC 8th Ed.)|NCI|N|
C4682991|Eyelid carcinoma with tumor measuring more than 10 mm but 20 mm or less in greatest dimension. (from AJCC 8th Ed.)|NCI|N|
C4682992|Eyelid carcinoma with tumor measuring more than 10 mm but 20 mm or less in greatest dimension without invasion of the tarsal plate or eyelid margin. (from AJCC 8th Ed.)|NCI|N|
C4682993|Eyelid carcinoma with tumor measuring more than 10 mm but 20 mm or less in greatest dimension with invasion of the tarsal plate or eyelid margin. (from AJCC 8th Ed.)|NCI|N|
C4682994|Eyelid carcinoma with tumor measuring more than 10 mm but 20 mm or less in greatest dimension involving the full thickness of the eyelid. (from AJCC 8th Ed.)|NCI|N|
C4682995|Eyelid carcinoma with tumor measuring more than 20 mm but 30 mm or less in greatest dimension. (from AJCC 8th Ed.)|NCI|N|
C4682996|Eyelid carcinoma with tumor measuring more than 20 mm but 30 mm or less in greatest dimension without invasion of the tarsal plate or eyelid margin. (from AJCC 8th Ed.)|NCI|N|
C4682997|Eyelid carcinoma with tumor measuring more than 20 mm but 30 mm or less in greatest dimension with invasion of the tarsal plate or eyelid margin. (from AJCC 8th Ed.)|NCI|N|
C4682998|Any eyelid carcinoma invading adjacent ocular, orbital, or facial structures. (from AJCC 8th Ed.)|NCI|N|
C4682999|Eyelid carcinoma with tumor invading ocular or intraorbital structures. (from AJCC 8th Ed.)|NCI|N|
C4683000|Eyelid carcinoma with tumor invading (or eroding through) the bony walls of the orbit or extending to the paranasal sinuses or invading the lacrimal sac/nasolacrimal duct or brain. (from AJCC 8th Ed.)|NCI|N|
C4683001|A pathologic finding about one or more characteristics of eyelid carcinoma, following the rules of the TNM AJCC v8 classification system as they pertain to staging of regional lymph nodes.|NCI|N|
C4683002|Eyelid carcinoma in which the regional lymph nodes cannot be assessed. (from AJCC 8th Ed.)|NCI|N|
C4683003|Eyelid carcinoma with no evidence of lymph node involvement. (from AJCC 8th Ed.)|NCI|N|
C4683004|Eyelid carcinoma with metastasis in a single ipsilateral regional lymph node, measuring 3 cm or less in greatest dimension. (from AJCC 8th Ed.)|NCI|N|
C4683005|Eyelid carcinoma with metastasis in a single ipsilateral regional lymph node, measuring 3 cm or less in greatest dimension based on lymph node biopsy. (from AJCC 8th Ed.)|NCI|N|
C4683006|Eyelid carcinoma with metastasis in a single ipsilateral regional lymph node, measuring more than 3 cm in greatest dimension, or in bilateral or contralateral lymph nodes. (from AJCC 8th Ed.)|NCI|N|
C4683007|Eyelid carcinoma with metastasis in a single ipsilateral regional lymph node, measuring more than 3 cm in greatest dimension, or in bilateral or contralateral lymph nodes documented based on microscopic findings on lymph node biopsy. (from AJCC 8th Ed.)|NCI|N|
C4683008|A term that refers to the staging of eyelid carcinoma according to the American Joint Committee on Cancer, 7th edition.|NCI|N|
C4683009|A term that refers to the staging of eyelid carcinoma according to the American Joint Committee on Cancer, 8th edition. This staging system applies to all primary carcinomas of the eyelid, including basal cell carcinoma (BCC), squamous cell carcinoma (SCC), sebaceous carcinoma, and other rare carcinomas, such as all varieties of sweat gland carcinoma (e.g., eccrine carcinoma). It does not apply to carcinomas of the head and neck with direct extension to eyelid (are staged according to the cutaneous squamous cell carcinomas of the head and neck), Merkel cell carcinomas of the eyelid (are staged according to the classification for Merkel cell carcinomas), and melanomas of the eyelid (are staged according to the classification for melanomas of the skin). (from AJCC 8th Ed.)|NCI|N|
C4683010|Stage 0 includes: Tis, N0, M0. Tis: Carcinoma in situ. N0: No evidence of lymph node involvement. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4683011|Stage I includes: IA: T1, N0, M0; IB: T2a, N0, M0. T1: Tumor measuring 10 mm or less in greatest dimension. T2a: Tumor measuring more than 10 mm but 20 mm or less in greatest dimension without invasion of the tarsal plate or eyelid margin. N0: No evidence of lymph node involvement. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4683012|Stage IA includes: T1, N0, M0. T1: Tumor measuring 10 mm or less in greatest dimension. N0: No evidence of lymph node involvement. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4683013|Stage IB includes: T2a, N0, M0. T2a: Tumor measuring more than 10 mm but 20 mm or less in greatest dimension without invasion of the tarsal plate or eyelid margin. N0: No evidence of lymph node involvement. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4683014|Stage II includes: IIA: T2b-c, T3, N0, M0; IIB: T4, N0, M0. T2b: Tumor measuring more than 10 mm but 20 mm or less in greatest dimension with invasion of the tarsal plate or eyelid margin. T2c: Tumor measuring more than 10 mm but 20 mm or less in greatest dimension involving the full thickness of the eyelid. T3: Tumor measuring more than 20 mm but 30 mm or less in greatest dimension. T4: Any eyelid carcinoma invading adjacent ocular, orbital, or facial structures. N0: No evidence of lymph node involvement. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4683015|Stage IIA includes: T2b-c, T3, N0, M0: T2b: Tumor measuring more than 10 mm but 20 mm or less in greatest dimension with invasion of the tarsal plate or eyelid margin. T2c: Tumor measuring more than 10 mm but 20 mm or less in greatest dimension involving the full thickness of the eyelid. T3: Tumor measuring more than 20 mm but 30 mm or less in greatest dimension. N0: No evidence of lymph node involvement. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4683016|Stage IIB includes: T4, N0, M0. T4: Any eyelid carcinoma invading adjacent ocular, orbital, or facial structures. N0: No evidence of lymph node involvement. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4683017|Stage III includes: IIIA: Any T, N1, M0; IIIB: Any T, N2, M0. N1: Metastasis in a single ipsilateral regional lymph node, measuring 3 cm or less in greatest dimension. N2: Metastasis in a single ipsilateral regional lymph node, measuring more than 3 cm in greatest dimension, or in bilateral or contralateral lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4683018|Stage IIIA includes: Any T, N1, M0. N1: Metastasis in a single ipsilateral regional lymph node, measuring 3 cm or less in greatest dimension. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4683019|Stage IIIB includes: Any T, N2, M0. N2: Metastasis in a single ipsilateral regional lymph node, measuring more than 3 cm in greatest dimension, or in bilateral or contralateral lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4683020|Stage IV includes: Any T, Any N, M1. M1: Distant metastasis. (AJCC 8th ed.)|NCI|N|
C4683021|A finding about one or more characteristics of conjunctival carcinoma, following the rules of the TNM AJCC v8 classification system. This classification system applies only to carcinoma of the conjunctiva. Other tumors of the conjunctiva, including secondary conjunctival tumors (e.g., intraocular tumors extending through the conjunctiva, such as uveal melanoma or uveal non-Hodgkin lymphoma, and orbital tumors extending into the conjunctiva, such as rhabdomyosarcoma), are not classified using this schema. Conjunctival lymphomas are staged according to the classification for ocular adnexal lymphoma and conjunctival melanomas are staged according to the classification for conjunctival melanoma. There is no proposal for anatomic stage and prognostic groups for conjunctival carcinoma. (from AJCC 8th Ed.)|NCI|N|
C4683022|A clinical finding about one or more characteristics of conjunctival carcinoma, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4683023|A clinical finding about one or more characteristics of conjunctival carcinoma, following the rules of the TNM AJCC v8 classification system as they pertain to distant metastases.|NCI|N|
C4683024|Conjunctival carcinoma with no distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4683025|Conjunctival carcinoma with distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4683026|A pathologic finding about one or more characteristics of conjunctival carcinoma, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4683027|A pathologic finding about one or more characteristics of conjunctival carcinoma, following the rules of the TNM AJCC v8 classification system as they pertain to distant metastases.|NCI|N|
C4683028|A pathologic finding about one or more characteristics of conjunctival carcinoma, following the rules of the TNM AJCC v8 classification system as they pertain to staging of the primary tumor.|NCI|N|
C4683029|Conjunctival carcinoma in which the primary tumor cannot be assessed. (from AJCC 8th Ed.)|NCI|N|
C4683030|Conjunctival carcinoma with no evidence of primary tumor. (from AJCC 8th Ed.)|NCI|N|
C4683031|Conjunctival carcinoma with a finding of carcinoma in situ. (from AJCC 8th Ed.)|NCI|N|
C4683032|Conjunctival carcinoma with tumor measuring 5 mm or less in greatest dimension and invading through the conjunctival basement membrane without invasion of adjacent structures. (from AJCC 8th Ed.)|NCI|N|
C4683033|Conjunctival carcinoma with tumor measuring more than 5 mm in greatest dimension and invading through the conjunctival basement membrane without invasion of adjacent structures. (from AJCC 8th Ed.)|NCI|N|
C4683034|Conjunctival carcinoma with tumor invading adjacent structures (excluding the orbit). (from AJCC 8th Ed.)|NCI|N|
C4683035|Conjunctival carcinoma with tumor invading the orbit with or without further extension. (from AJCC 8th Ed.)|NCI|N|
C4683036|Conjunctival carcinoma with tumor invading orbital soft tissues without bone invasion. (from AJCC 8th Ed.)|NCI|N|
C4683037|Conjunctival carcinoma with tumor invading bone. (from AJCC 8th Ed.)|NCI|N|
C4683038|Conjunctival carcinoma with tumor invading adjacent paranasal sinuses. (from AJCC 8th Ed.)|NCI|N|
C4683039|Conjunctival carcinoma with tumor invading brain. (from AJCC 8th Ed.)|NCI|N|
C4683040|A pathologic finding about one or more characteristics of conjunctival carcinoma, following the rules of the TNM AJCC v8 classification system as they pertain to staging of regional lymph nodes.|NCI|N|
C4683041|Conjunctival carcinoma in which the regional lymph nodes cannot be assessed. (from AJCC 8th Ed.)|NCI|N|
C4683042|Conjunctival carcinoma with no regional lymph node metastasis. (from AJCC 8th Ed.)|NCI|N|
C4683043|Conjunctival carcinoma with regional lymph node metastasis. (from AJCC 8th Ed.)|NCI|N|
C4683047|A finding about one or more characteristics of conjunctival melanoma, following the rules of the TNM AJCC v8 classification system. This classification system applies to melanomas arising from the bulbar and palpebral conjunctiva and from the caruncle. Primary eyelid melanomas are staged according to the classification for melanoma of the skin and secondary involvement of the conjunctiva by extraocular uveal melanoma is staged according to the classification for uveal melanoma. There is no proposal for anatomic stage and prognostic groups for conjunctival melanoma. (from AJCC 8th Ed.)|NCI|N|
C4683048|A clinical finding about one or more characteristics of conjunctival melanoma, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4683049|A clinical finding about one or more characteristics of conjunctival melanoma, following the rules of the TNM AJCC v8 classification system as they pertain to distant metastases.|NCI|N|
C4683050|Conjunctival melanoma with no distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4683051|Conjunctival melanoma with distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4683052|A clinical finding about one or more characteristics of conjunctival melanoma, following the rules of the TNM AJCC v8 classification system as they pertain to staging of the primary tumor.|NCI|N|
C4683053|Conjunctival melanoma in which the primary tumor cannot be assessed. (from AJCC 8th Ed.)|NCI|N|
C4683054|Conjunctival melanoma with no evidence of primary tumor. (from AJCC 8th Ed.)|NCI|N|
C4683055|Conjunctival melanoma with tumor of the bulbar conjunctiva. (from AJCC 8th Ed.)|NCI|N|
C4683056|Conjunctival melanoma with tumor of the bulbar conjunctiva, involving less than 1 quadrant. (from AJCC 8th Ed.)|NCI|N|
C4683057|Conjunctival melanoma with tumor of the bulbar conjunctiva, involving 1 or more to less than 2 quadrants. (from AJCC 8th Ed.)|NCI|N|
C4683058|Conjunctival melanoma with tumor of the bulbar conjunctiva, involving 2 or more to less than 3 quadrants. (from AJCC 8th Ed.)|NCI|N|
C4683059|Conjunctival melanoma with tumor of the bulbar conjunctiva, involving 3 or more quadrants. (from AJCC 8th Ed.)|NCI|N|
C4683060|Conjunctival melanoma with tumor of the nonbulbar (forniceal, palpebral, tarsal) conjunctiva, and tumor involving the caruncle. (from AJCC 8th Ed.)|NCI|N|
C4683061|Conjunctival melanoma with noncaruncular tumor, and 1 or less quadrant of the nonbulbar conjunctiva involved. (from AJCC 8th Ed.)|NCI|N|
C4683062|Conjunctival melanoma with noncaruncular tumor, and more than 1 quadrant of the nonbulbar conjunctiva involved. (from AJCC 8th Ed.)|NCI|N|
C4683063|Conjunctival melanoma with caruncular tumor, and 1 or less quadrant of the nonbulbar conjunctiva involved. (from AJCC 8th Ed.)|NCI|N|
C4683064|Conjunctival melanoma with caruncular tumor, and more than 1 quadrant of the nonbulbar conjunctiva involved. (from AJCC 8th Ed.)|NCI|N|
C4683065|Conjunctival melanoma with tumor of any size with local invasion. (from AJCC 8th Ed.)|NCI|N|
C4683066|Conjunctival melanoma with tumor of any size invading the globe. (from AJCC 8th Ed.)|NCI|N|
C4683067|Conjunctival melanoma with tumor of any size invading the eyelid. (from AJCC 8th Ed.)|NCI|N|
C4683068|Conjunctival melanoma with tumor of any size invading the orbit. (from AJCC 8th Ed.)|NCI|N|
C4683069|Conjunctival melanoma with tumor of any size invading the nasolacrimal duct and/or lacrimal sac and/or paranasal sinuses. (from AJCC 8th Ed.)|NCI|N|
C4683070|Conjunctival melanoma with tumor of any size invading the central nervous system. (from AJCC 8th Ed.)|NCI|N|
C4683071|A pathologic finding about one or more characteristics of conjunctival melanoma, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4683072|A pathologic finding about one or more characteristics of conjunctival melanoma, following the rules of the TNM AJCC v8 classification system as they pertain to distant metastases.|NCI|N|
C4683073|Conjunctival melanoma with distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4683074|Conjunctival melanoma in which the primary tumor cannot be assessed. (from AJCC 8th Ed.)|NCI|N|
C4683075|Conjunctival melanoma with no evidence of primary tumor. (from AJCC 8th Ed.)|NCI|N|
C4683076|Conjunctival melanoma confined to the conjunctival epithelium. (from AJCC 8th Ed.)|NCI|N|
C4683077|Conjunctival melanoma with tumor of the bulbar conjunctiva. (from AJCC 8th Ed.)|NCI|N|
C4683078|Conjunctival melanoma with tumor of the bulbar conjunctiva invading the substantia propria, not more than 2.0 mm in thickness. (from AJCC 8th Ed.)|NCI|N|
C4683079|Conjunctival melanoma with tumor of the bulbar conjunctiva invading the substantia propria, more than 2.0 mm in thickness. (from AJCC 8th Ed.)|NCI|N|
C4683080|Conjunctival melanoma with tumor of the nonbulbar (forniceal, palpebral, tarsal) conjunctiva, and tumor involving the caruncle. (from AJCC 8th Ed.)|NCI|N|
C4683081|Conjunctival melanoma with tumor of the nonbulbar conjunctiva with invasion of the substantia propria, not more than 2.0 mm in thickness. (from AJCC 8th Ed.)|NCI|N|
C4683082|Conjunctival melanoma with tumor of the nonbulbar conjunctiva with invasion of the substantia propria, more than 2.0 mm in thickness. (from AJCC 8th Ed.)|NCI|N|
C4683083|Conjunctival melanoma with tumor of any size with local invasion. (from AJCC 8th Ed.)|NCI|N|
C4683084|Conjunctival melanoma with tumor of any size invading the globe. (from AJCC 8th Ed.)|NCI|N|
C4683085|Conjunctival melanoma with tumor of any size invading the eyelid. (from AJCC 8th Ed.)|NCI|N|
C4683086|Conjunctival melanoma with tumor of any size invading the orbit. (from AJCC 8th Ed.)|NCI|N|
C4683087|Conjunctival melanoma with tumor of any size invading the nasolacrimal duct and/or lacrimal sac and/or paranasal sinuses. (from AJCC 8th Ed.)|NCI|N|
C4683088|Conjunctival melanoma with tumor of any size invading the central nervous system. (from AJCC 8th Ed.)|NCI|N|
C4683089|A pathologic finding about one or more characteristics of conjunctival melanoma, following the rules of the TNM AJCC v8 classification system as they pertain to staging of regional lymph nodes.|NCI|N|
C4683090|Conjunctival melanoma in which the regional lymph nodes cannot be assessed. (from AJCC 8th Ed.)|NCI|N|
C4683091|Conjunctival melanoma with no regional lymph node metastasis. (from AJCC 8th Ed.)|NCI|N|
C4683092|Conjunctival melanoma with regional lymph node metastasis. (from AJCC 8th Ed.)|NCI|N|
C4683093|A finding about one or more characteristics of uveal melanoma, following the rules of the TNM AJCC v8 classification system. This classification system applies to malignant melanoma of the iris, ciliary body, and choroid. Cutaneous melanoma metastatic to the iris, ciliary body, and choroid is staged according to the classification for melanoma of the skin and secondary intraocular extension of conjunctival melanoma is staged according to the classification for conjunctival melanoma. (from AJCC 8th Ed.)|NCI|N|
C4683094|A clinical finding about one or more characteristics of uveal melanoma, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4683095|A clinical finding about one or more characteristics of uveal melanoma, following the rules of the TNM AJCC v8 classification system as they pertain to distant metastases.|NCI|N|
C4683096|Uveal melanoma with no distant metastasis by clinical classification. (from AJCC 8th Ed.)|NCI|N|
C4683097|Uveal melanoma with distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4683098|Uveal melanoma with largest diameter of the largest metastasis 3.0 cm or less. (from AJCC 8th Ed.)|NCI|N|
C4683099|Uveal melanoma with largest diameter of the largest metastasis 3.1-8.0 cm. (from AJCC 8th Ed.)|NCI|N|
C4683100|Uveal melanoma with largest diameter of the largest metastasis 8.1 cm or more. (from AJCC 8th Ed.)|NCI|N|
C4683101|A pathologic finding about one or more characteristics of uveal melanoma, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4683102|A pathologic finding about one or more characteristics of uveal melanoma, following the rules of the TNM AJCC v8 classification system as they pertain to distant metastases.|NCI|N|
C4683103|Uveal melanoma with distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4683104|Uveal melanoma with largest diameter of the largest metastasis 3.0 cm or less. (from AJCC 8th Ed.)|NCI|N|
C4683105|Uveal melanoma with largest diameter of the largest metastasis 3.1-8.0 cm. (from AJCC 8th Ed.)|NCI|N|
C4683106|Uveal melanoma with largest diameter of the largest metastasis 8.1 cm or more. (from AJCC 8th Ed.)|NCI|N|
C4683107|A pathologic finding about one or more characteristics of iris melanoma, following the rules of the TNM AJCC v8 classification system as they pertain to staging of the primary tumor.|NCI|N|
C4683108|Iris melanoma with tumor limited to the iris. (from AJCC 8th Ed.)|NCI|N|
C4683109|Iris melanoma with tumor limited to the iris, not more than 3 clock hours in size. (from AJCC 8th Ed.)|NCI|N|
C4683110|Iris melanoma with tumor limited to the iris, more than 3 clock hours in size. (from AJCC 8th Ed.)|NCI|N|
C4683111|Iris melanoma with tumor limited to the iris with secondary glaucoma. (from AJCC 8th Ed.)|NCI|N|
C4683112|Iris melanoma with tumor confluent with or extending into the ciliary body, choroid, or both. (from AJCC 8th Ed.)|NCI|N|
C4683113|Iris melanoma with tumor confluent with or extending into the ciliary body and choroid, without secondary glaucoma. (from AJCC 8th Ed.)|NCI|N|
C4683114|Iris melanoma with tumor confluent with or extending into the ciliary body, choroid, or both, with secondary glaucoma. (from AJCC 8th Ed.)|NCI|N|
C4683115|Iris melanoma with tumor confluent with or extending into the ciliary body, choroid, or both, with scleral extension. (from AJCC 8th Ed.)|NCI|N|
C4683116|Iris melanoma with extrascleral extension. (from AJCC 8th Ed.)|NCI|N|
C4683117|Iris melanoma with extrascleral extension 5 mm or less in largest diameter. (from AJCC 8th Ed.)|NCI|N|
C4683118|Iris melanoma with extrascleral extension more than 5 mm in largest diameter. (from AJCC 8th Ed.)|NCI|N|
C4683119|A pathologic finding about one or more characteristics of choroidal and ciliary body melanoma, following the rules of the TNM AJCC v8 classification system as they pertain to staging of the primary tumor.|NCI|N|
C4683120|Choroidal and ciliary body melanoma, tumor size category 1. (from AJCC 8th Ed.)|NCI|N|
C4683121|Choroidal and ciliary body melanoma, tumor size category 1 without ciliary body involvement and extraocular extension. (from AJCC 8th Ed.)|NCI|N|
C4683122|Choroidal and ciliary body melanoma, tumor size category 1 with ciliary body involvement. (from AJCC 8th Ed.)|NCI|N|
C4683123|Choroidal and ciliary body melanoma, tumor size category 1 without ciliary body involvement but with extraocular extension 5 mm or less in largest diameter. (from AJCC 8th Ed.)|NCI|N|
C4683124|Choroidal and ciliary body melanoma, tumor size category 1 with ciliary body involvement and extraocular extension 5 mm or less in largest diameter. (from AJCC 8th Ed.)|NCI|N|
C4683125|Choroidal and ciliary body melanoma, tumor size category 2. (from AJCC 8th Ed.)|NCI|N|
C4683126|Choroidal and ciliary body melanoma, tumor size category 2 without ciliary body involvement and extraocular extension. (from AJCC 8th Ed.)|NCI|N|
C4683127|Choroidal and ciliary body melanoma, tumor size category 2 with ciliary body involvement. (from AJCC 8th Ed.)|NCI|N|
C4683128|Choroidal and ciliary body melanoma, tumor size category 2 without ciliary body involvement but with extraocular extension 5 mm or less in largest diameter. (from AJCC 8th Ed.)|NCI|N|
C4683129|Choroidal and ciliary body melanoma, tumor size category 2 with ciliary body involvement and extraocular extension 5 mm or less in largest diameter. (from AJCC 8th Ed.)|NCI|N|
C4683130|Choroidal and ciliary body melanoma, tumor size category 3. (from AJCC 8th Ed.)|NCI|N|
C4683131|Choroidal and ciliary body melanoma, tumor size category 3 without ciliary body involvement and extraocular extension. (from AJCC 8th Ed.)|NCI|N|
C4683132|Choroidal and ciliary body melanoma, tumor size category 3 with ciliary body involvement. (from AJCC 8th Ed.)|NCI|N|
C4683133|Choroidal and ciliary body melanoma, tumor size category 3 without ciliary body involvement but with extraocular extension 5 mm or less in largest diameter. (from AJCC 8th Ed.)|NCI|N|
C4683134|Choroidal and ciliary body melanoma, tumor size category 3 with ciliary body involvement and extraocular extension 5 mm or less in largest diameter. (from AJCC 8th Ed.)|NCI|N|
C4683135|Choroidal and ciliary body melanoma, tumor size category 4. (from AJCC 8th Ed.)|NCI|N|
C4683136|Choroidal and ciliary body melanoma, tumor size category 4 without ciliary body involvement and extraocular extension. (from AJCC 8th Ed.)|NCI|N|
C4683137|Choroidal and ciliary body melanoma, tumor size category 4 with ciliary body involvement. (from AJCC 8th Ed.)|NCI|N|
C4683138|Choroidal and ciliary body melanoma, tumor size category 4 without ciliary body involvement but with extraocular extension 5 mm or less in largest diameter. (from AJCC 8th Ed.)|NCI|N|
C4683139|Choroidal and ciliary body melanoma, tumor size category 4 with ciliary body involvement and extraocular extension 5 mm or less in largest diameter. (from AJCC 8th Ed.)|NCI|N|
C4683140|Choroidal and ciliary body melanoma, any tumor size category with extraocular extension more than 5 mm in largest diameter. (from AJCC 8th Ed.)|NCI|N|
C4683141|A pathologic finding about one or more characteristics of uveal melanoma, following the rules of the TNM AJCC v8 classification system as they pertain to staging of regional lymph nodes.|NCI|N|
C4683142|Uveal melanoma with regional lymph node metastasis or discrete tumor deposits in the orbit. (from AJCC 8th Ed.)|NCI|N|
C4683143|Uveal melanoma with metastasis in one or more regional lymph node(s). (from AJCC 8th Ed.)|NCI|N|
C4683144|Uveal melanoma in which no regional lymph nodes are positive, but there are discrete tumor deposits in the orbit that are not contiguous to the eye. (from AJCC 8th Ed.)|NCI|N|
C4683146|A term that refers to the staging of choroidal and ciliary body melanoma, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4683147|Stage I includes: T1a, N0, M0. T1a: Tumor size category 1 without ciliary body involvement and extraocular extension. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4683148|Stage II includes: IIA (T1b-d, N0, M0); (T2a, N0, M0); IIB (T2b, N0, M0); (T3a, N0, M0). T1b: Tumor size category 1 with ciliary body involvement. T1c: Tumor size category 1 without ciliary body involvement but with extraocular extension less than or equal to 5 mm in largest diameter. T1d: Tumor size category 1 with ciliary body involvement and extraocular extension less than or equal to 5 mm in largest diameter. T2a: Tumor size category 2 without ciliary body involvement and extraocular extension. T2b: Tumor size category 2 with ciliary body involvement. T3a: Tumor size category 3 without ciliary body involvement and extraocular extension. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4683149|Stage IIA includes: (T1b-d, N0, M0); (T2a, N0, M0). T1b: Tumor size category 1 with ciliary body involvement. T1c: Tumor size category 1 without ciliary body involvement but with extraocular extension less than or equal to 5 mm in largest diameter. T1d: Tumor size category 1 with ciliary body involvement and extraocular extension less than or equal to 5 mm in largest diameter. T2a: Tumor size category 2 without ciliary body involvement and extraocular extension. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4683150|Stage IIB includes: (T2b, N0, M0); (T3a, N0, M0). T2b: Tumor size category 2 with ciliary body involvement. T3a: Tumor size category 3 without ciliary body involvement and extraocular extension. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4683151|Stage III includes: IIIA (T2c-d, N0, M0); (T3b-c, N0, M0); (T4a, N0, M0); IIIB (T3d, N0, M0); (T4b-c, N0, M0); IIIC: (T4d-e, N0, M0). T2c: Tumor size category 2 without ciliary body involvement but with extraocular extension less than or equal to 5 mm in largest diameter. T2d: Tumor size category 2 with ciliary body involvement and extraocular extension less than or equal to 5 mm in largest diameter. T3b: Tumor size category 3 with ciliary body involvement. T3c: Tumor size category 3 without ciliary body involvement but with extraocular extension less than or equal to 5 mm in largest diameter. T4a: Tumor size category 4 without ciliary body involvement and extraocular extension. T3d: Tumor size category 3 with ciliary body involvement and extraocular extension less than or equal to 5 mm in largest diameter. T4b: Tumor size category 4 with ciliary body involvement. T4c: Tumor size category 4 without ciliary body involvement but with extraocular extension less than or equal to 5 mm in largest diameter. T4d: Tumor size category 4 with ciliary body involvement and extraocular extension less than or equal to 5 mm in largest diameter. T4e: Any tumor size category with extraocular extension more than 5 mm in largest diameter. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4683152|Stage IIIB includes: (T3d, N0, M0); (T4b-c, N0, M0). T3d: Tumor size category 3 with ciliary body involvement and extraocular extension less than or equal to 5 mm in largest diameter. T4b: Tumor size category 4 with ciliary body involvement. T4c: Tumor size category 4 without ciliary body involvement but with extraocular extension less than or equal to 5 mm in largest diameter. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4683153|Stage IIIC includes: T4d-e, N0, M0. T4d: Tumor size category 4 with ciliary body involvement and extraocular extension less than or equal to 5 mm in largest diameter. T4e: Any tumor size category with extraocular extension more than 5 mm in largest diameter. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4683154|Stage IV includes: (Any T, N1, M0); (Any T, Any N, M1a-c). N1: Regional lymph node metastasis or discrete tumor deposits in the orbit. M0: No distant metastasis. M1a: Distant metastasis, with the largest diameter of the largest metastasis measuring 3 cm or less. M1b: Distant metastasis, with the largest diameter of the largest metastasis measuring 3.1-8.0 cm. M1c: Distant metastasis, with the largest diameter of the largest metastasis measuring 8.1 cm or more. (AJCC 8th ed.)|NCI|N|
C4683155|Partial response or complete response in at least one component (i.e., soft tissue, bone, and bone marrow disease) but at least one other component with stable disease; no component with progressive disease. (J Clin Oncol 35: 2580-2587, 2017)|NCI|N|
C4683157|Any component (i.e., soft tissue, bone, and bone marrow disease) with progressive disease. (J Clin Oncol 35: 2580-2587, 2017)|NCI|N|
C4683158|A term that refers to the staging of uveal melanoma, following the rules of the TNM AJCC v7 classification system.|NCI|N|
C4683161|A finding about one or more characteristics of retinoblastoma, following the rules of the TNM AJCC v8 classification system. This classification does not apply to central nervous system component of ""trilateral retinoblastoma"" (is staged according to the classification for brain and spinal cord), retinoma (or retinocytoma) (no AJCC staging system), and medulloepithelioma (no AJCC staging system). (from AJCC 8th Ed.)|NCI|N|
C4683162|A clinical finding about one or more characteristics of retinoblastoma, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4683163|A clinical finding about one or more characteristics of retinoblastoma, following the rules of the TNM AJCC v8 classification system as they pertain to distant metastases.|NCI|N|
C4683164|Retinoblastoma with no signs or symptoms of intracranial or distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4683165|Retinoblastoma with distant metastasis without microscopic confirmation. (from AJCC 8th Ed.)|NCI|N|
C4683166|Retinoblastoma with tumor(s) involving any distant site (e.g., bone marrow, liver) on clinical or radiologic tests. (from AJCC 8th Ed.)|NCI|N|
C4683167|Retinoblastoma with tumor involving the CNS on radiologic imaging (not including trilateral retinoblastoma). (from AJCC 8th Ed.)|NCI|N|
C4683168|A clinical finding about one or more characteristics of retinoblastoma, following the rules of the TNM AJCC v8 classification system as they pertain to staging of the primary tumor. Each eye is scored for cT criteria, and the cT category for the patient is based on the most advanced eye. (from AJCC 8th Ed.)|NCI|N|
C4683169|Unknown evidence of intraocular tumor. (from AJCC 8th Ed.)|NCI|N|
C4683170|No evidence of intraocular tumor. (from AJCC 8th Ed.)|NCI|N|
C4683171|Intraretinal tumor(s) with subretinal fluid 5 mm or less from the base of any tumor. (from AJCC 8th Ed.)|NCI|N|
C4683172|Tumors 3 mm or less and further than 1.5 mm from disc and fovea. (from AJCC 8th Ed.)|NCI|N|
C4683173|Tumors more than 3 mm or closer than 1.5 mm from disc and fovea. (from AJCC 8th Ed.)|NCI|N|
C4683174|Intraocular tumor(s) with retinal detachment, vitreous seeding, or subretinal seeding. (from AJCC 8th Ed.)|NCI|N|
C4683175|Subretinal fluid more than 5 mm from the base of any tumor. (from AJCC 8th Ed.)|NCI|N|
C4683176|Vitreous seeding and/or subretinal seeding. (from AJCC 8th Ed.)|NCI|N|
C4683177|Advanced intraocular tumor(s). (from AJCC 8th Ed.)|NCI|N|
C4683178|Phthisis or pre-phthisis bulbi. (from AJCC 8th Ed.)|NCI|N|
C4683179|Raised intraocular pressure with neovascularization and/or buphthalmos. (from AJCC 8th Ed.)|NCI|N|
C4683180|Hyphema and/or massive vitreous hemorrhage. (from AJCC 8th Ed.)|NCI|N|
C4683181|Aseptic orbital cellulitis. (from AJCC 8th Ed.)|NCI|N|
C4683182|Extraocular tumor(s) involving orbit, including optic nerve. (from AJCC 8th Ed.)|NCI|N|
C4683183|Radiologic evidence of retrobulbar optic nerve involvement or thickening of optic nerve or involvement of orbital tissues. (from AJCC 8th Ed.)|NCI|N|
C4683184|Extraocular tumor clinically evident with proptosis and/or an orbital mass. (from AJCC 8th Ed.)|NCI|N|
C4683185|A clinical finding about one or more characteristics of retinoblastoma, following the rules of the TNM AJCC v8 classification system as they pertain to staging of regional lymph nodes.|NCI|N|
C4683186|Retinoblastoma in which the regional lymph nodes cannot be assessed. (from AJCC 8th Ed.)|NCI|N|
C4683187|Retinoblastoma with no regional lymph node involvement. (from AJCC 8th Ed.)|NCI|N|
C4683188|Retinoblastoma with evidence of preauricular, submandibular, and cervical lymph node involvement. (from AJCC 8th Ed.)|NCI|N|
C4683189|A pathologic finding about one or more characteristics of retinoblastoma, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4683190|A pathologic finding about one or more characteristics of retinoblastoma, following the rules of the TNM AJCC v8 classification system as they pertain to distant metastases.|NCI|N|
C4683191|Retinoblastoma with distant metastasis with microscopic confirmation. (from AJCC 8th Ed.)|NCI|N|
C4683192|Retinoblastoma with pathological evidence of tumor at any distant site (e.g., bone marrow, liver, or other). (from AJCC 8th Ed.)|NCI|N|
C4683193|Retinoblastoma with pathological evidence of tumor in the cerebrospinal fluid or CNS parenchyma. (from AJCC 8th Ed.)|NCI|N|
C4683194|A pathologic finding about one or more characteristics of retinoblastoma, following the rules of the TNM AJCC v8 classification system as they pertain to staging of regional lymph nodes.|NCI|N|
C4683195|Retinoblastoma in which regional lymph node involvement cannot be assessed. (from AJCC 8th Ed.)|NCI|N|
C4683196|Retinoblastoma with no lymph node involvement. (from AJCC 8th Ed.)|NCI|N|
C4683197|Retinoblastoma with regional lymph node involvement. (from AJCC 8th Ed.)|NCI|N|
C4683198|A pathologic finding about one or more characteristics of retinoblastoma, following the rules of the TNM AJCC v8 classification system as they pertain to staging of the primary tumor.|NCI|N|
C4683199|Unknown evidence of intraocular tumor. (from AJCC 8th Ed.)|NCI|N|
C4683200|No evidence of intraocular tumor. (from AJCC 8th Ed.)|NCI|N|
C4683201|Intraocular tumor(s) without any local invasion, focal choroidal invasion, or pre-or intralaminar involvement of the optic nerve head. (from AJCC 8th Ed.)|NCI|N|
C4683202|Intraocular tumor(s) with local invasion. (from AJCC 8th Ed.)|NCI|N|
C4683203|Concomitant focal choroidal invasion and pre-or intralaminar involvement of the optic nerve head. (from AJCC 8th Ed.)|NCI|N|
C4683204|Tumor invasion of stroma of iris and/or trabecular meshwork and/or Schlemm''s canal. (from AJCC 8th Ed.)|NCI|N|
C4683205|Intraocular tumor(s) with significant local invasion. (from AJCC 8th Ed.)|NCI|N|
C4683206|Massive choroidal invasion (more than 3 mm in largest diameter, or multiple foci of focal choroidal involvement totaling more than 3 mm, or any full-thickness choroidal involvement). (from AJCC 8th Ed.)|NCI|N|
C4683207|Retrolaminar invasion of the optic nerve head, not involving the transected end of the optic nerve. (from AJCC 8th Ed.)|NCI|N|
C4683208|Any partial-thickness involvement of the sclera within the inner two thirds. (from AJCC 8th Ed.)|NCI|N|
C4683209|Full-thickness invasion into the outer third of the sclera and/or invasion into or around emissary channels. (from AJCC 8th Ed.)|NCI|N|
C4683210|Evidence of extraocular tumor: tumor at the transected end of the optic nerve, tumor in the meningeal spaces around the optic nerve, full-thickness invasion of the sclera with invasion of the episclera, adjacent adipose tissue, extraocular muscle, bone, conjunctiva, or eyelids. (from AJCC 8th Ed.)|NCI|N|
C4683211|A finding about a heritable trait of retinoblastoma, following the rules of the AJCC v8 classification system.|NCI|N|
C4683212|Unknown or insufficient evidence of a constitutional RB1 gene mutation. (from AJCC 8th Ed.)|NCI|N|
C4683213|Normal RB1 alleles in blood tested with demonstrated high-sensitivity assays. (from AJCC 8th Ed.)|NCI|N|
C4683214|Bilateral retinoblastoma, retinoblastoma with an intracranial primitive neuroectodermal tumor (i.e., trilateral retinoblastoma), patient with family history of retinoblastoma, or molecular definition of a constitutional RB1 gene mutation. (from AJCC 8th Ed.)|NCI|N|
C4683230|A term that refers to the staging of retinoblastoma according to the American Joint Committee on Cancer, 8th edition. This staging system does not apply to central nervous system component of ""trilateral retinoblastoma"" (is staged according to the classification for brain and spinal cord), retinoma (or retinocytoma) (no AJCC staging system), and medulloepithelioma (no AJCC staging system). (from AJCC 8th Ed.)|NCI|N|
C4683231|A term that refers to the clinical staging of retinoblastoma according to the American Joint Committee on Cancer, 8th edition.|NCI|N|
C4683232|Stage I includes: cT1, cT2, cT3, cN0, cM0, Any H. cT1: Intraretinal tumor(s) with subretinal fluid 5 mm or less from the base of any tumor. cT2: Intraocular tumor(s) with retinal detachment, vitreous seeding, or subretinal seeding. cT3: Advanced intraocular tumor(s). cN0: No regional lymph node involvement. cM0: No signs or symptoms of intracranial or distant metastasis. HX: Unknown or insufficient evidence of a constitutional RB1 gene mutation. H0: Normal RB1 alleles in blood tested with demonstrated high-sensitivity assays. H1: Bilateral retinoblastoma, retinoblastoma with an intracranial primitive neuroectodermal tumor (i.e., trilateral retinoblastoma), patient with family history of retinoblastoma, or molecular definition of a constitutional RB1 gene mutation. (AJCC 8th ed.)|NCI|N|
C4683233|Stage II includes: cT4a, cN0, cM0, Any H. cT4a: Radiologic evidence of retrobulbar optic nerve involvement or thickening of optic nerve or involvement of orbital tissues. cN0: No regional lymph node involvement. cM0: No signs or symptoms of intracranial or distant metastasis. HX: Unknown or insufficient evidence of a constitutional RB1 gene mutation. H0: Normal RB1 alleles in blood tested with demonstrated high-sensitivity assays. H1: Bilateral retinoblastoma, retinoblastoma with an intracranial primitive neuroectodermal tumor (i.e., trilateral retinoblastoma), patient with family history of retinoblastoma, or molecular definition of a constitutional RB1 gene mutation. (AJCC 8th ed.)|NCI|N|
C4683234|Stage III includes: (cT4b, cN0, cM0, Any H); (Any cT, cN1, cM0, Any H). cT4b: Extraocular tumor clinically evident with proptosis and/or an orbital mass. cN0: No regional lymph node involvement. cN1: Evidence of preauricular, submandibular, and cervical lymph node involvement. cM0: No signs or symptoms of intracranial or distant metastasis. HX: Unknown or insufficient evidence of a constitutional RB1 gene mutation. H0: Normal RB1 alleles in blood tested with demonstrated high-sensitivity assays. H1: Bilateral retinoblastoma, retinoblastoma with an intracranial primitive neuroectodermal tumor (i.e., trilateral retinoblastoma), patient with family history of retinoblastoma, or molecular definition of a constitutional RB1 gene mutation. (AJCC 8th ed.)|NCI|N|
C4683235|Stage IV includes: Any cT, Any N, cM1 or pM1, Any H. cM1: Distant metastasis without microscopic confirmation. pM1: Distant metastasis with microscopic confirmation. HX: Unknown or insufficient evidence of a constitutional RB1 gene mutation. H0: Normal RB1 alleles in blood tested with demonstrated high-sensitivity assays. H1: Bilateral retinoblastoma, retinoblastoma with an intracranial primitive neuroectodermal tumor (i.e., trilateral retinoblastoma), patient with family history of retinoblastoma, or molecular definition of a constitutional RB1 gene mutation. (AJCC 8th ed.)|NCI|N|
C4683236|A term that refers to the pathologic staging of retinoblastoma according to the American Joint Committee on Cancer, 8th edition.|NCI|N|
C4683237|Stage I includes: pT1, pT2, pT3, pN0, cM0, Any H. pT1: Intraocular tumor(s) without any local invasion, focal choroidal invasion, or pre-or intralaminar involvement of the optic nerve head. pT2: Intraocular tumor(s) with local invasion. pT3: Intraocular tumor(s) with significant local invasion. pN0: No lymph node involvement. cM0: No signs or symptoms of intracranial or distant metastasis. HX: Unknown or insufficient evidence of a constitutional RB1 gene mutation. H0: Normal RB1 alleles in blood tested with demonstrated high-sensitivity assays. H1: Bilateral retinoblastoma, retinoblastoma with an intracranial primitive neuroectodermal tumor (i.e., trilateral retinoblastoma), patient with family history of retinoblastoma, or molecular definition of a constitutional RB1 gene mutation. (AJCC 8th ed.)|NCI|N|
C4683238|Stage II includes: pT4, pN0, cM0, Any H. pT4: Evidence of extraocular tumor: tumor at the transected end of the optic nerve, tumor in the meningeal spaces around the optic nerve, full-thickness invasion of the sclera with invasion of the episclera, adjacent adipose tissue, extraocular muscle, bone, conjunctiva, or eyelids. pN0: No lymph node involvement. cM0: No signs or symptoms of intracranial or distant metastasis. HX: Unknown or insufficient evidence of a constitutional RB1 gene mutation. H0: Normal RB1 alleles in blood tested with demonstrated high-sensitivity assays. H1: Bilateral retinoblastoma, retinoblastoma with an intracranial primitive neuroectodermal tumor (i.e., trilateral retinoblastoma), patient with family history of retinoblastoma, or molecular definition of a constitutional RB1 gene mutation. (AJCC 8th ed.)|NCI|N|
C4683239|Stage III includes: Any pT, pN1, cM0, Any H. pN1: Regional lymph node involvement. cM0: No signs or symptoms of intracranial or distant metastasis. HX: Unknown or insufficient evidence of a constitutional RB1 gene mutation. H0: Normal RB1 alleles in blood tested with demonstrated high-sensitivity assays. H1: Bilateral retinoblastoma, retinoblastoma with an intracranial primitive neuroectodermal tumor (i.e., trilateral retinoblastoma), patient with family history of retinoblastoma, or molecular definition of a constitutional RB1 gene mutation. (AJCC 8th ed.)|NCI|N|
C4683240|Stage IV includes: Any pT, Any N, cM1 or pM1, Any H. cM1: Distant metastasis without microscopic confirmation. pM1: Distant metastasis with microscopic confirmation. HX: Unknown or insufficient evidence of a constitutional RB1 gene mutation. H0: Normal RB1 alleles in blood tested with demonstrated high-sensitivity assays. H1: Bilateral retinoblastoma, retinoblastoma with an intracranial primitive neuroectodermal tumor (i.e., trilateral retinoblastoma), patient with family history of retinoblastoma, or molecular definition of a constitutional RB1 gene mutation. (AJCC 8th ed.)|NCI|N|
C4683252|A finding about one or more characteristics of carcinomas of the lacrimal gland, following the rules of the TNM AJCC v8 classification system. There is no AJCC staging system for carcinomas of the nasolacrimal sac. Lymphomas are staged according to the classification for ocular adnexal lymphomas. No stage groupings are currently recommended for lacrimal gland carcinomas. (from AJCC 8th Ed.)|NCI|N|
C4683253|A clinical finding about one or more characteristics of lacrimal gland carcinoma, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4683254|A clinical finding about one or more characteristics of lacrimal gland carcinoma, following the rules of the TNM AJCC v8 classification system as they pertain to distant metastases.|NCI|N|
C4683255|Lacrimal gland carcinoma with no distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4683256|Lacrimal gland carcinoma with distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4683257|A pathologic finding about one or more characteristics of lacrimal gland carcinoma, following the rules of the TNM AJCC v8 classification system as they pertain to distant metastases.|NCI|N|
C4683258|Lacrimal gland carcinoma with distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4683259|A pathologic finding about one or more characteristics of lacrimal gland carcinoma, following the rules of the TNM AJCC v8 classification system as they pertain to staging of the primary tumor.|NCI|N|
C4683260|Primary tumor cannot be assessed. (from AJCC 8th Ed.)|NCI|N|
C4683261|No evidence of primary tumor. (from AJCC 8th Ed.)|NCI|N|
C4683262|Lacrimal gland carcinoma with tumor measuring 2 cm or less in greatest dimension with or without extraglandular extension into the orbital soft tissue. (from AJCC 8th Ed.)|NCI|N|
C4683263|Lacrimal gland carcinoma with tumor measuring 2 cm or less in greatest dimension with or without extraglandular extension into the orbital soft tissue with no periosteal or bone involvement. (from AJCC 8th Ed.)|NCI|N|
C4683264|Lacrimal gland carcinoma with tumor measuring 2 cm or less in greatest dimension with or without extraglandular extension into the orbital soft tissue with periosteal involvement only. (from AJCC 8th Ed.)|NCI|N|
C4683265|Lacrimal gland carcinoma with tumor measuring 2 cm or less in greatest dimension with or without extraglandular extension into the orbital soft tissue with periosteal and bone involvement. (from AJCC 8th Ed.)|NCI|N|
C4683266|Lacrimal gland carcinoma with tumor measuring more than 2 cm but 4 cm or less in greatest dimension. (from AJCC 8th Ed.)|NCI|N|
C4683267|Lacrimal gland carcinoma with tumor measuring more than 2 cm but 4 cm or less in greatest dimension with no periosteal or bone involvement. (from AJCC 8th Ed.)|NCI|N|
C4683268|Lacrimal gland carcinoma with tumor measuring more than 2 cm but 4 cm or less in greatest dimension with periosteal involvement only. (from AJCC 8th Ed.)|NCI|N|
C4683269|Lacrimal gland carcinoma with tumor measuring more than 2 cm but 4 cm or less in greatest dimension with periosteal and bone involvement. (from AJCC 8th Ed.)|NCI|N|
C4683270|Lacrimal gland carcinoma with tumor measuring more than 4 cm in greatest dimension. (from AJCC 8th Ed.)|NCI|N|
C4683271|Lacrimal gland carcinoma with tumor measuring more than 4 cm in greatest dimension with no periosteal or bone involvement. (from AJCC 8th Ed.)|NCI|N|
C4683272|Lacrimal gland carcinoma with tumor measuring more than 4 cm in greatest dimension with periosteal involvement only. (from AJCC 8th Ed.)|NCI|N|
C4683273|Lacrimal gland carcinoma with tumor measuring more than 4 cm in greatest dimension with periosteal and bone involvement. (from AJCC 8th Ed.)|NCI|N|
C4683274|Lacrimal gland carcinoma with involvement of adjacent structures, including sinuses, temporal fossa, pterygoid fossa, superior orbital fissure, cavernous sinus, or brain. (from AJCC 8th Ed.)|NCI|N|
C4683276|Lacrimal gland carcinoma with involvement of adjacent structures, including sinuses, temporal fossa, pterygoid fossa, superior orbital fissure, cavernous sinus, or brain and measuring 2 cm or less in greatest dimension. (from AJCC 8th Ed.)|NCI|N|
C4683277|Lacrimal gland carcinoma with involvement of adjacent structures, including sinuses, temporal fossa, pterygoid fossa, superior orbital fissure, cavernous sinus, or brain and measuring more than 2 cm but 4 cm or less in greatest dimension. (from AJCC 8th Ed.)|NCI|N|
C4683279|Lacrimal gland carcinoma with involvement of adjacent structures, including sinuses, temporal fossa, pterygoid fossa, superior orbital fissure, cavernous sinus, or brain and measuring more than 4 cm in greatest dimension. (from AJCC 8th Ed.)|NCI|N|
C4683280|A pathologic finding about one or more characteristics of lacrimal gland carcinoma, following the rules of the TNM AJCC v8 classification system as they pertain to staging of regional lymph nodes.|NCI|N|
C4683281|Lacrimal gland carcinoma in which the regional lymph nodes cannot be assessed. (from AJCC 8th Ed.)|NCI|N|
C4683282|Lacrimal gland carcinoma with no regional lymph node metastasis. (from AJCC 8th Ed.)|NCI|N|
C4683283|Lacrimal gland carcinoma with regional lymph node metastasis. (from AJCC 8th Ed.)|NCI|N|
C4683297|A finding about one or more characteristics of orbital sarcoma, following the rules of the TNM AJCC v8 classification system. This classification does not apply to osseous and cartilaginous tumors arising in bone (are staged according to the classification for bone), secondary tumors that arise in adjacent periorbital sites with orbital invasion (are staged according to the classification for primary site of tumor), lacrimal gland carcinomas (are staged according to the classification for lacrimal gland carcinoma), and lacrimal gland sarcomas (are staged according to the classification for soft tissue sarcoma of the head and neck). There is no proposal for anatomic stage and prognostic groups for orbital sarcomas at this time. (from AJCC 8th Ed.)|NCI|N|
C4683298|A clinical finding about one or more characteristics of orbital sarcoma, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4683299|A clinical finding about one or more characteristics of orbital sarcoma, following the rules of the TNM AJCC v8 classification system as they pertain to distant metastases.|NCI|N|
C4683300|Orbital sarcoma with no distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4683301|Orbital sarcoma with distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4683302|A pathologic finding about one or more characteristics of orbital sarcoma, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4683303|A pathologic finding about one or more characteristics of orbital sarcoma, following the rules of the TNM AJCC v8 classification system as they pertain to distant metastases.|NCI|N|
C4683304|Orbital sarcoma with distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4683305|A pathologic finding about one or more characteristics of orbital sarcoma, following the rules of the TNM AJCC v8 classification system as they pertain to staging of the primary tumor.|NCI|N|
C4683306|Primary tumor cannot be assessed. (from AJCC 8th Ed.)|NCI|N|
C4683307|No evidence of primary tumor. (from AJCC 8th Ed.)|NCI|N|
C4683308|Orbital sarcoma with tumor measuring 2 cm or less in greatest dimension. (from AJCC 8th Ed.)|NCI|N|
C4683309|Orbital sarcoma with tumor measuring more than 2 cm in greatest diameter without invasion of bony walls or globe. (from AJCC 8th Ed.)|NCI|N|
C4683310|Orbital sarcoma with tumor of any size with invasion of bony walls. (from AJCC 8th Ed.)|NCI|N|
C4683311|Orbital sarcoma with tumor of any size with invasion of globe or periorbital structures, including eyelid, conjunctiva, temporal fossa, nasal cavity, paranasal sinuses, and/or central nervous system. (from AJCC 8th Ed.)|NCI|N|
C4683312|A pathologic finding about one or more characteristics of orbital sarcoma, following the rules of the TNM AJCC v8 classification system as they pertain to staging of regional lymph nodes.|NCI|N|
C4683313|Orbital sarcoma in which the regional lymph nodes cannot be assessed. (from AJCC 8th Ed.)|NCI|N|
C4683314|Orbital sarcoma with no regional lymph node metastasis. (from AJCC 8th Ed.)|NCI|N|
C4683315|Orbital sarcoma with regional lymph node metastasis. (from AJCC 8th Ed.)|NCI|N|
C4683316|A finding about one or more characteristics of ocular adnexal lymphoma, following the rules of the TNM AJCC v8 classification system. The lymphomas staged according to this system are primary lymphomas arising in the ocular adnexa-namely, the conjunctiva, eyelids, lacrimal gland, lacrimal drainage apparatus, and other orbital tissues surrounding the eye. Secondary ocular adnexal lymphomas and intraocular lymphomas are staged according to the classification for Hodgkin and non-Hodgkin lymphoma. There is no prognostic stage grouping for ocular adnexal lymphomas. (from AJCC 8th Ed.)|NCI|N|
C4683317|A clinical finding about one or more characteristics of ocular adnexal lymphoma, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4683318|A clinical finding about one or more characteristics of ocular adnexal lymphoma, following the rules of the TNM AJCC v8 classification system as they pertain to distant metastases.|NCI|N|
C4683319|Ocular adnexal lymphoma with no evidence of involvement of other extranodal sites. (from AJCC 8th Ed.)|NCI|N|
C4683320|Ocular adnexal lymphoma with noncontiguous involvement of tissues or organs external to the ocular adnexa (e.g., parotid glands, submandibular gland, lung, liver, spleen, kidney, breast). (from AJCC 8th Ed.)|NCI|N|
C4683321|Ocular adnexal lymphoma with lymphomatous involvement of the bone marrow. (from AJCC 8th Ed.)|NCI|N|
C4683322|Ocular adnexal lymphoma with both M1a and M1b involvement. (from AJCC 8th Ed.)|NCI|N|
C4683323|A pathologic finding about one or more characteristics of ocular adnexal lymphoma, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4683324|A pathologic finding about one or more characteristics of ocular adnexal lymphoma, following the rules of the TNM AJCC v8 classification system as they pertain to distant metastases.|NCI|N|
C4683325|Ocular adnexal lymphoma with noncontiguous involvement of tissues or organs external to the ocular adnexa (e.g., parotid glands, submandibular gland, lung, liver, spleen, kidney, breast). (from AJCC 8th Ed.)|NCI|N|
C4683326|Ocular adnexal lymphoma with both M1a and M1b involvement. (from AJCC 8th Ed.)|NCI|N|
C4683327|A pathologic finding about one or more characteristics of ocular adnexal lymphoma, following the rules of the TNM AJCC v8 classification system as they pertain to staging of the primary tumor.|NCI|N|
C4683328|Lymphoma extent not specified. (from AJCC 8th Ed.)|NCI|N|
C4683329|No evidence of lymphoma. (from AJCC 8th Ed.)|NCI|N|
C4683330|Ocular adnexal lymphoma involving the conjunctiva alone without eyelid or orbital involvement. (from AJCC 8th Ed.)|NCI|N|
C4683331|Ocular adnexal lymphoma with orbital involvement with or without conjunctival involvement. (from AJCC 8th Ed.)|NCI|N|
C4683332|Ocular adnexal lymphoma with preseptal eyelid involvement with or without orbital involvement and with or without conjunctival involvement. (from AJCC 8th Ed.)|NCI|N|
C4683333|Orbital adnexal lymphoma and extraorbital lymphoma extending beyond the orbit to adjacent structures, such as bone, maxillofacial sinuses, and brain. (from AJCC 8th Ed.)|NCI|N|
C4683334|A pathologic finding about one or more characteristics of ocular adnexal lymphoma, following the rules of the TNM AJCC v8 classification system as they pertain to staging of regional lymph nodes.|NCI|N|
C4683335|Involvement of lymph nodes not assessed. (from AJCC 8th Ed.)|NCI|N|
C4683336|Ocular adnexal lymphoma with no evidence of lymph node involvement. (from AJCC 8th Ed.)|NCI|N|
C4683337|Ocular adnexal lymphoma with involvement of lymph node region or regions draining the ocular adnexal structures and superior to the mediastinum (preauricular, parotid, submandibular, and cervical nodes). (from AJCC 8th Ed.)|NCI|N|
C4683338|Ocular adnexal lymphoma with involvement of a single lymph node region superior to the mediastinum. (from AJCC 8th Ed.)|NCI|N|
C4683339|Ocular adnexal lymphoma with involvement of two or more lymph node regions, superior to the mediastinum. (from AJCC 8th Ed.)|NCI|N|
C4683340|Ocular adnexal lymphoma with involvement of lymph node regions of the mediastinum. (from AJCC 8th Ed.)|NCI|N|
C4683341|Ocular adnexal lymphoma with diffuse or disseminated involvement of peripheral and central lymph node regions. (from AJCC 8th Ed.)|NCI|N|
C4683351|A finding about one or more characteristics of endocrine system cancer, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4683352|A finding about one or more characteristics of thyroid carcinoma, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4683353|A finding about one or more characteristics of papillary, follicular, Hurthle cell, poorly differentiated, and anaplastic (undifferentiated) thyroid carcinoma, following the rules of the TNM AJCC v8 classification system. Medullary thyroid cancers are staged according to the classification for thyroid-medullary. Thyroid lymphomas are staged according to the classification for Hodgkin and non-Hodgkin lymphoma. There are no AJCC staging systems for thyroid cancer arising from thyroglossal duct cyst and thyroid cancer in malignant struma ovarii. (from AJCC 8th Ed.)|NCI|N|
C4683354|A clinical finding about one or more characteristics of papillary, follicular, Hurthle cell, poorly differentiated, and anaplastic thyroid carcinoma, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4683355|A clinical finding about one or more characteristics of papillary, follicular, Hurthle cell, poorly differentiated, and anaplastic thyroid carcinoma, following the rules of the TNM AJCC v8 classification system as they pertain to distant metastases.|NCI|N|
C4683356|No distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4683357|Distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4683358|A clinical finding about one or more characteristics of papillary, follicular, Hurthle cell, poorly differentiated, and anaplastic thyroid carcinoma, following the rules of the TNM AJCC v8 classification system as they pertain to staging of regional lymph nodes.|NCI|N|
C4683359|Regional lymph nodes cannot be assessed. (from AJCC 8th Ed.)|NCI|N|
C4683360|No evidence of locoregional lymph node metastasis. (from AJCC 8th Ed.)|NCI|N|
C4683361|No radiologic or clinical evidence of locoregional lymph node metastasis. (from AJCC 8th Ed.)|NCI|N|
C4683362|Metastasis to regional nodes. (from AJCC 8th Ed.)|NCI|N|
C4683363|Metastasis to level VI or VII (pretracheal, paratracheal, or prelaryngeal /Delphian, or upper mediastinal) lymph nodes. This can be unilateral or bilateral disease. (from AJCC 8th Ed.)|NCI|N|
C4683364|Metastasis to unilateral, bilateral, or contralateral lateral neck lymph nodes (levels I, II, III, IV, or V) or retropharyngeal lymph nodes. (from AJCC 8th Ed.)|NCI|N|
C4683365|A pathologic finding about one or more characteristics of papillary, follicular, Hurthle cell, poorly differentiated, and anaplastic thyroid carcinoma, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4683366|A pathologic finding about one or more characteristics of papillary, follicular, Hurthle cell, poorly differentiated, and anaplastic thyroid carcinoma, following the rules of the TNM AJCC v8 classification system as they pertain to distant metastases.|NCI|N|
C4683367|Distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4683368|A pathologic finding about one or more characteristics of papillary, follicular, Hurthle cell, poorly differentiated, and anaplastic thyroid carcinoma, following the rules of the TNM AJCC v8 classification system as they pertain to staging of the primary tumor.|NCI|N|
C4683369|Primary tumor cannot be assessed. (from AJCC 8th Ed.)|NCI|N|
C4683370|No evidence of primary tumor. (from AJCC 8th Ed.)|NCI|N|
C4683371|Tumor measuring 2 cm or less in greatest dimension limited to the thyroid. (from AJCC 8th Ed.)|NCI|N|
C4683372|Tumor measuring 1 cm or less in greatest dimension limited to the thyroid. (from AJCC 8th Ed.)|NCI|N|
C4683373|Tumor measuring more than 1 cm but 2 cm or less in greatest dimension limited to the thyroid. (from AJCC 8th Ed.)|NCI|N|
C4683374|Tumor measuring more than 2 cm but 4 cm or less in greatest dimension limited to the thyroid. (from AJCC 8th Ed.)|NCI|N|
C4683375|Tumor measuring more than 4 cm in greatest dimension limited to the thyroid, or gross extrathyroidal extension invading only strap muscles. (from AJCC 8th Ed.)|NCI|N|
C4683376|Tumor measuring more than 4 cm in greatest dimension limited to the thyroid. (from AJCC 8th Ed.)|NCI|N|
C4683377|Gross extrathyroidal extension invading only strap muscles (sternohyoid, sternothyroid, thyrohyoid, or omohyoid muscles) from a tumor of any size. (from AJCC 8th Ed.)|NCI|N|
C4683378|Tumor of any size with gross extrathyroidal extension. (from AJCC 8th Ed.)|NCI|N|
C4683379|Gross extrathyroidal extension invading subcutaneous soft tissues, larynx, trachea, esophagus, or recurrent laryngeal nerve from a tumor of any size. (from AJCC 8th Ed.)|NCI|N|
C4683380|Gross extrathyroidal extension invading prevertebral fascia or encasing the carotid artery or mediastinal vessels from a tumor of any size. (from AJCC 8th Ed.)|NCI|N|
C4683381|A pathologic finding about one or more characteristics of papillary, follicular, Hurthle cell, poorly differentiated, and anaplastic thyroid carcinoma, following the rules of the TNM AJCC v8 classification system as they pertain to staging of regional lymph nodes.|NCI|N|
C4683382|Regional lymph nodes cannot be assessed. (from AJCC 8th Ed.)|NCI|N|
C4683383|No evidence of locoregional lymph node metastasis. (from AJCC 8th Ed.)|NCI|N|
C4683384|One or more cytologically or histologically confirmed benign lymph nodes. (from AJCC 8th Ed.)|NCI|N|
C4683385|Metastasis to regional nodes. (from AJCC 8th Ed.)|NCI|N|
C4683388|Metastasis to level VI or VII (pretracheal, paratracheal, or prelaryngeal/Delphian, or upper mediastinal) lymph nodes. This can be unilateral or bilateral disease. (from AJCC 8th Ed.)|NCI|N|
C4683391|Metastasis to unilateral, bilateral, or contralateral lateral neck lymph nodes (levels I, II, III, IV, or V) or retropharyngeal lymph nodes. (from AJCC 8th Ed.)|NCI|N|
C4683409|A term that refers to the staging of follicular thyroid gland carcinoma, following the rules of the TNM AJCC v7 classification system.|NCI|N|
C4683410|A term that refers to the staging of differentiated thyroid gland carcinoma, following the rules of the TNM AJCC v7 classification system.|NCI|N|
C4683411|A term that refers to the staging of papillary thyroid gland carcinoma, following the rules of the TNM AJCC v7 classification system.|NCI|N|
C4683412|A differentiated thyroid gland carcinoma stage for patients under 45 years of age defined according to the AJCC 7th edition criteria.|NCI|N|
C4683413|A differentiated thyroid gland carcinoma stage for patients under 55 years of age defined according to the AJCC 8th edition criteria.|NCI|N|
C4683414|A differentiated thyroid gland carcinoma stage for patients 45 years and older defined according to the AJCC 7th edition criteria.|NCI|N|
C4683415|A differentiated thyroid gland carcinoma stage for patients 55 years and older defined according to the AJCC 8th edition criteria.|NCI|N|
C4683416|A term that refers to the staging of differentiated thyroid gland carcinoma, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4683417|Stage I includes: Any T, Any N, M0. M0: No distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4683418|Stage I includes: (T1, N0/NX, M0); (T2, N0/NX, M0). T1: Tumor measuring 2 cm or less in greatest dimension limited to the thyroid. T2: Tumor measuring more than 2 cm but 4 cm or less in greatest dimension limited to the thyroid. N0: No evidence of locoregional lymph node metastasis. NX: Regional lymph nodes cannot be assessed. M0: No distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4683419|Stage II includes: Any T, Any N, M1. M1: Distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4683420|Stage II includes: (T1, N1, M0); (T2, N1, M0); (T3a/T3b, Any N, M0). T1: Tumor measuring 2 cm or less in greatest dimension limited to the thyroid. T2: Tumor measuring more than 2 cm but 4 cm or less in greatest dimension limited to the thyroid. T3a: Tumor measuring more than 4 cm in greatest dimension limited to the thyroid. T3b: Gross extrathyroidal extension invading only strap muscles (sternohyoid, sternothyroid, thyrohyoid, or omohyoid muscles) from a tumor of any size. N1: Metastasis to regional nodes. M0: No distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4683421|Stage IV includes: IVA: 55 years and older: T4b, Any N, M0; IVB: 55 years and older: Any T, Any N, M1. T4b: Gross extrathyroidal extension invading prevertebral fascia or encasing the carotid artery or mediastinal vessels from a tumor of any size. M0: No distant metastasis. M1: Distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4683422|A term that refers to the staging of papillary thyroid gland carcinoma, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4683423|Stage I includes: Any T, Any N, M0. M0: No distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4683424|Stage I includes: (T1, N0/NX, M0); (T2, N0/NX, M0). T1: Tumor measuring 2 cm or less in greatest dimension limited to the thyroid. T2: Tumor measuring more than 2 cm but 4 cm or less in greatest dimension limited to the thyroid. N0: No evidence of locoregional lymph node metastasis. NX: Regional lymph nodes cannot be assessed. M0: No distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4683425|Stage II includes: Any T, Any N, M1. M1: Distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4683426|Stage II includes: (T1, N1, M0); (T2, N1, M0); (T3a/T3b, Any N, M0). T1: Tumor measuring 2 cm or less in greatest dimension limited to the thyroid. T2: Tumor measuring more than 2 cm but 4 cm or less in greatest dimension limited to the thyroid. T3a: Tumor measuring more than 4 cm in greatest dimension limited to the thyroid. T3b: Gross extrathyroidal extension invading only strap muscles (sternohyoid, sternothyroid, thyrohyoid, or omohyoid muscles) from a tumor of any size. N1: Metastasis to regional nodes. M0: No distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4683427|A term that refers to the staging of follicular thyroid gland carcinoma, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4683428|Stage I includes: Any T, Any N, M0. M0: No distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4683429|Stage I includes: (T1, N0/NX, M0); (T2, N0/NX, M0). T1: Tumor measuring 2 cm or less in greatest dimension limited to the thyroid. T2: Tumor measuring more than 2 cm but 4 cm or less in greatest dimension limited to the thyroid. N0: No evidence of locoregional lymph node metastasis. NX: Regional lymph nodes cannot be assessed. M0: No distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4683430|Stage II includes: Any T, Any N, M1. M1: Distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4683431|Stage II includes: (T1, N1, M0); (T2, N1, M0); (T3a/T3b, Any N, M0). T1: Tumor measuring 2 cm or less in greatest dimension limited to the thyroid. T2: Tumor measuring more than 2 cm but 4 cm or less in greatest dimension limited to the thyroid. T3a: Tumor measuring more than 4 cm in greatest dimension limited to the thyroid. T3b: Gross extrathyroidal extension invading only strap muscles (sternohyoid, sternothyroid, thyrohyoid, or omohyoid muscles) from a tumor of any size. N1: Metastasis to regional nodes. M0: No distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4683433|A term that refers to the staging of thyroid gland anaplastic carcinoma, following the rules of the TNM AJCC v7 classification system.|NCI|N|
C4683434|A term that refers to the staging of thyroid gland anaplastic carcinoma, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4683436|A finding about one or more characteristics of medullary thyroid carcinoma, following the rules of the TNM AJCC v8 classification system. Differentiated and anaplastic thyroid carcinomas are staged according to the classification for thyroid-differentiated and anaplastic carcinoma. (from AJCC 8th Ed.)|NCI|N|
C4683437|A clinical finding about one or more characteristics of medullary thyroid carcinoma, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4683438|A clinical finding about one or more characteristics of medullary thyroid carcinoma, following the rules of the TNM AJCC v8 classification system as they pertain to distant metastases.|NCI|N|
C4683439|No distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4683440|Distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4683441|A clinical finding about one or more characteristics of medullary thyroid carcinoma, following the rules of the TNM AJCC v8 classification system as they pertain to staging of regional lymph nodes.|NCI|N|
C4683442|Regional lymph nodes cannot be assessed. (from AJCC 8th Ed.)|NCI|N|
C4683443|No evidence of locoregional lymph node metastasis. (from AJCC 8th Ed.)|NCI|N|
C4683444|No radiologic or clinical evidence of locoregional lymph node metastasis. (from AJCC 8th Ed.)|NCI|N|
C4683445|Metastasis to regional nodes. (from AJCC 8th Ed.)|NCI|N|
C4683446|Metastasis to level VI or VII (pretracheal, paratracheal, or prelaryngeal/Delphian, or upper mediastinal) lymph nodes. This can be unilateral or bilateral disease. (from AJCC 8th Ed.)|NCI|N|
C4683447|Metastasis to unilateral, bilateral, or contralateral lateral neck lymph node levels I, II, III, IV, or V or retropharyngeal lymph nodes. (from AJCC 8th Ed.)|NCI|N|
C4683448|A pathologic finding about one or more characteristics of medullary thyroid carcinoma, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4683449|A pathologic finding about one or more characteristics of medullary thyroid carcinoma, following the rules of the TNM AJCC v8 classification system as they pertain to distant metastases.|NCI|N|
C4683450|Distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4683451|A pathologic finding about one or more characteristics of medullary thyroid carcinoma, following the rules of the TNM AJCC v8 classification system as they pertain to staging of the primary tumor.|NCI|N|
C4683452|Primary tumor cannot be assessed. (from AJCC 8th Ed.)|NCI|N|
C4683453|No evidence of primary tumor. (from AJCC 8th Ed.)|NCI|N|
C4683454|Tumor measuring 2 cm or less in greatest dimension limited to the thyroid. (from AJCC 8th Ed.)|NCI|N|
C4683455|Tumor measuring 1 cm or less in greatest dimension limited to the thyroid. (from AJCC 8th Ed.)|NCI|N|
C4683456|Tumor measuring more than 1 cm but 2 cm or less in greatest dimension limited to the thyroid. (from AJCC 8th Ed.)|NCI|N|
C4683457|Tumor measuring more than 2 cm but less than 4 cm in greatest dimension limited to the thyroid. (from AJCC 8th Ed.)|NCI|N|
C4683458|Tumor measuring 4 cm or more in greatest dimension or with extrathyroidal extension. (from AJCC 8th Ed.)|NCI|N|
C4683459|Tumor measuring 4 cm or more in greatest dimension limited to the thyroid. (from AJCC 8th Ed.)|NCI|N|
C4683460|Tumor of any size with gross extrathyroidal extension invading only strap muscles (sternohyoid, sternothyroid, thyrohyoid or omohyoid muscles). (from AJCC 8th Ed.)|NCI|N|
C4683461|Advanced disease. (from AJCC 8th Ed.)|NCI|N|
C4683462|Moderately advanced disease; tumor of any size with gross extrathyroidal extension into the nearby tissues of the neck, including subcutaneous soft tissue, larynx, trachea, esophagus, or recurrent laryngeal nerve. (from AJCC 8th Ed.)|NCI|N|
C4683463|Very advanced disease; tumor of any size with extension towards the spine or into nearby large blood vessels, invading the prevertebral fascia, or encasing the carotid artery or mediastinal vessels. (from AJCC 8th Ed.)|NCI|N|
C4683464|A pathologic finding about one or more characteristics of medullary thyroid carcinoma, following the rules of the TNM AJCC v8 classification system as they pertain to staging of regional lymph nodes.|NCI|N|
C4683465|Regional lymph nodes cannot be assessed. (from AJCC 8th Ed.)|NCI|N|
C4683466|No evidence of locoregional lymph node metastasis. (from AJCC 8th Ed.)|NCI|N|
C4683467|One or more cytologically or histologically confirmed benign lymph nodes. (from AJCC 8th Ed.)|NCI|N|
C4683468|Metastasis to regional nodes. (from AJCC 8th Ed.)|NCI|N|
C4683469|Metastasis to level VI or VII (pretracheal, paratracheal, or prelaryngeal/Delphian, or upper mediastinal) lymph nodes. This can be unilateral or bilateral disease. (from AJCC 8th Ed.)|NCI|N|
C4683470|Metastasis to unilateral, bilateral, or contralateral lateral neck lymph nodes levels I, II, III, IV, or V or retropharyngeal lymph nodes. (from AJCC 8th Ed.)|NCI|N|
C4683471|A term that refers to the staging of thyroid gland medullary carcinoma, following the rules of the TNM AJCC v7 classification system.|NCI|N|
C4683472|A term that refers to the staging of thyroid gland medullary carcinoma, following the rules of the TNM AJCC v8 classification system. Differentiated and anaplastic thyroid gland carcinomas are staged according to the classification for thyroid-differentiated and anaplastic carcinoma. (from AJCC 8th Ed.)|NCI|N|
C4683474|A finding about one or more characteristics of parathyroid carcinoma, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4683475|A clinical finding about one or more characteristics of parathyroid carcinoma, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4683476|A clinical finding about one or more characteristics of parathyroid carcinoma, following the rules of the TNM AJCC v8 classification system as they pertain to distant metastases.|NCI|N|
C4683477|No distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4683478|Distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4683479|A pathologic finding about one or more characteristics of parathyroid carcinoma, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4683480|A pathologic finding about one or more characteristics of parathyroid carcinoma, following the rules of the TNM AJCC v8 classification system as they pertain to distant metastases.|NCI|N|
C4683481|Distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4683482|A pathologic finding about one or more characteristics of parathyroid carcinoma, following the rules of the TNM AJCC v8 classification system as they pertain to staging of the primary tumor.|NCI|N|
C4683483|Primary tumor cannot be assessed. (from AJCC 8th Ed.)|NCI|N|
C4683484|No evidence of primary tumor. (from AJCC 8th Ed.)|NCI|N|
C4683485|Atypical parathyroid neoplasm (neoplasm of uncertain malignant potential). (from AJCC 8th Ed.)|NCI|N|
C4683486|Tumor localized to the parathyroid gland with extension limited to soft tissue. (from AJCC 8th Ed.)|NCI|N|
C4683487|Tumor with direct invasion into the thyroid gland. (from AJCC 8th Ed.)|NCI|N|
C4683488|Tumor with direct invasion into recurrent laryngeal nerve, esophagus, trachea, skeletal muscle, adjacent lymph nodes, or thymus. (from AJCC 8th Ed.)|NCI|N|
C4683489|Tumor with direct invasion into major blood vessel or spine. (from AJCC 8th Ed.)|NCI|N|
C4683490|A pathologic finding about one or more characteristics of parathyroid carcinoma, following the rules of the TNM AJCC v8 classification system as they pertain to staging of regional lymph nodes.|NCI|N|
C4683491|Regional lymph nodes cannot be assessed. (from AJCC 8th Ed.)|NCI|N|
C4683492|No regional lymph node metastasis. (from AJCC 8th Ed.)|NCI|N|
C4683493|Regional lymph node metastasis. (from AJCC 8th Ed.)|NCI|N|
C4683494|Metastasis to level VI (pretracheal, paratracheal, and prelaryngeal/Delphian lymph nodes), or superior mediastinal lymph nodes (level VII). (from AJCC 8th Ed.)|NCI|N|
C4683495|Metastasis to unilateral, bilateral, or contralateral cervical (levels I, II, III, IV, or V) or retropharyngeal nodes. (from AJCC 8th Ed.)|NCI|N|
C4683497|Lung carcinoma that does not respond to treatment.|NCI|N|
C4683498|Extensive stage small cell lung carcinoma that has reemerged after a period of remission.|NCI|N|
C4683499|Extensive stage small cell lung carcinoma that does not respond to treatment.|NCI|N|
C4683500|A finding about one or more characteristics of adrenal cortical carcinoma, following the rules of the TNM AJCC v8 classification system. Adrenal medullary pheochromocytoma is staged according to the classification for adrenal neuroendocrine tumors. There is no AJCC staging system for neuroblastic tumors of the adrenal gland. (from AJCC 8th Ed.)|NCI|N|
C4683501|A clinical finding about one or more characteristics of adrenal cortical carcinoma, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4683502|A clinical finding about one or more characteristics of adrenal cortical carcinoma, following the rules of the TNM AJCC v8 classification system as they pertain to distant metastases.|NCI|N|
C4683503|No distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4683504|Distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4683505|A pathologic finding about one or more characteristics of adrenal cortical carcinoma, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4683506|A pathologic finding about one or more characteristics of adrenal cortical carcinoma, following the rules of the TNM AJCC v8 classification system as they pertain to distant metastases.|NCI|N|
C4683507|Distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4683508|A pathologic finding about one or more characteristics of adrenal cortical carcinoma, following the rules of the TNM AJCC v8 classification system as they pertain to staging of the primary tumor.|NCI|N|
C4683509|Primary tumor cannot be assessed. (from AJCC 8th Ed.)|NCI|N|
C4683510|No evidence of primary tumor. (from AJCC 8th Ed.)|NCI|N|
C4683511|Tumor measuring 5 cm or less in greatest dimension, with no extra-adrenal invasion. (from AJCC 8th Ed.)|NCI|N|
C4683512|Tumor measuring more than 5 cm in greatest dimension, with no extra-adrenal invasion. (from AJCC 8th Ed.)|NCI|N|
C4683513|Tumor of any size with local invasion but not invading adjacent organs. (from AJCC 8th Ed.)|NCI|N|
C4683514|Tumor of any size that invades adjacent organs (kidney, diaphragm, pancreas, spleen, or liver) or large blood vessels (renal vein or vena cava). (from AJCC 8th Ed.)|NCI|N|
C4683515|A pathologic finding about one or more characteristics of adrenal cortical carcinoma, following the rules of the TNM AJCC v8 classification system as they pertain to staging of regional lymph nodes.|NCI|N|
C4683516|Regional lymph nodes cannot be assessed. (from AJCC 8th Ed.)|NCI|N|
C4683517|No regional lymph node metastasis. (from AJCC 8th Ed.)|NCI|N|
C4683518|Metastasis in regional lymph node(s). (from AJCC 8th Ed.)|NCI|N|
C4683519|A term that refers to the staging of adrenal cortical carcinoma, following the rules of the TNM AJCC v7 classification system.|NCI|N|
C4683521|A term that refers to the staging of adrenal cortical carcinoma, following the rules of the TNM AJCC v8 classification system. Adrenal medullary pheochromocytoma is staged according to the classification for adrenal neuroendocrine tumors. There is no AJCC staging system for neuroblastic tumors of the adrenal gland. (from AJCC 8th Ed.)|NCI|N|
C4683522|A finding about one or more characteristics of pheochromocytoma and paraganglioma, following the rules of the TNM AJCC v8 classification system. This classification system applies to the adrenal medulla pheochromocytomas and sympathetic paragangliomas. Parasympathetic paragangliomas are not staged because they are largely benign. This staging system does not apply to neuroendocrine tumors of the pancreas (are staged according to the classification for neuroendocrine tumors of the pancreas) and carotid body tumors (not staged). (from AJCC 8th Ed.)|NCI|N|
C4683523|A clinical finding about one or more characteristics of pheochromocytoma and paraganglioma, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4683524|A clinical finding about one or more characteristics of pheochromocytoma and paraganglioma, following the rules of the TNM AJCC v8 classification system as they pertain to distant metastases.|NCI|N|
C4683525|No distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4683526|Distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4683527|Distant metastasis to only bone. (from AJCC 8th Ed.)|NCI|N|
C4683528|Distant metastasis to only distant lymph nodes/liver or lung. (from AJCC 8th Ed.)|NCI|N|
C4683529|Distant metastasis to bone plus multiple other sites. (from AJCC 8th Ed.)|NCI|N|
C4683530|A pathologic finding about one or more characteristics of pheochromocytoma and paraganglioma, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4683531|A pathologic finding about one or more characteristics of pheochromocytoma and paraganglioma, following the rules of the TNM AJCC v8 classification system as they pertain to distant metastases.|NCI|N|
C4683532|Distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4683533|Distant metastasis to only bone. (from AJCC 8th Ed.)|NCI|N|
C4683534|Distant metastasis to only distant lymph nodes/liver or lung. (from AJCC 8th Ed.)|NCI|N|
C4683535|Distant metastasis to bone plus multiple other sites. (from AJCC 8th Ed.)|NCI|N|
C4683536|A pathologic finding about one or more characteristics of pheochromocytoma and paraganglioma, following the rules of the TNM AJCC v8 classification system as they pertain to staging of the primary tumor.|NCI|N|
C4683537|Primary tumor cannot be assessed. (from AJCC 8th Ed.)|NCI|N|
C4683538|Pheochromocytoma measuring less than 5 cm in greatest dimension, with no extra-adrenal invasion. (from AJCC 8th Ed.)|NCI|N|
C4683539|Pheochromocytoma measuring 5 cm or more in greatest dimension or paraganglioma-sympathetic of any size, with no extra-adrenal invasion. (from AJCC 8th Ed.)|NCI|N|
C4683540|Tumor of any size with invasion into surrounding tissues (e.g., liver, pancreas, spleen, kidneys). (from AJCC 8th Ed.)|NCI|N|
C4683541|A pathologic finding about one or more characteristics of pheochromocytoma and paraganglioma, following the rules of the TNM AJCC v8 classification system as they pertain to staging of regional lymph nodes.|NCI|N|
C4683542|Regional lymph nodes cannot be assessed. (from AJCC 8th Ed.)|NCI|N|
C4683543|No lymph node metastasis. (from AJCC 8th Ed.)|NCI|N|
C4683544|Regional Lymph node metastasis. (from AJCC 8th Ed.)|NCI|N|
C4683545|A term that refers to the staging of adrenal gland pheochromocytoma and sympathetic paraganglioma, following the rules of the TNM AJCC v8 classification system. Parasympathetic paragangliomas are not staged because they are largely benign. This staging system does not apply to neuroendocrine tumors of the pancreas (are staged according to the classification for neuroendocrine tumors of the pancreas) and carotid body tumors (not staged). (from AJCC 8th Ed.)|NCI|N|
C4683546|Stage I includes: T1, N0, M0. T1: Pheochromocytoma measuring less than 5 cm in greatest dimension, with no extra-adrenal invasion. N0: No regional lymph node metastasis. M0: No distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4683547|Stage II includes: T2, N0, M0. T2: Pheochromocytoma measuring 5 cm or more in greatest dimension or paraganglioma-sympathetic of any size, with no extra-adrenal invasion. N0: No regional lymph node metastasis. M0: No distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4683548|Stage III includes: (T1, N1, M0); (T2, N1, M0); (T3, Any N, M0). T1: Pheochromocytoma measuring less than 5 cm in greatest dimension, with no extra-adrenal invasion. T2: Pheochromocytoma measuring 5 cm or more in greatest dimension or paraganglioma-sympathetic of any size, with no extra-adrenal invasion. T3: Tumor of any size with invasion into surrounding tissues (e.g., liver, pancreas, spleen, kidneys). N1: Regional lymph node metastasis. M0: No distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4683549|Stage IV includes: Any T, Any N, M1. M1: Distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4683556|An anatomic stage for Hodgkin and non-Hodgkin lymphomas based on the Ann Arbor classification criteria.|NCI|N|
C4683557|An anatomic stage for non-Hodgkin lymphomas based on the Ann Arbor classification criteria.|NCI|N|
C4683558|An anatomic stage for Hodgkin lymphomas based on the Ann Arbor classification criteria.|NCI|N|
C4683559|A term that refers to the staging of mycosis fungoides and Sezary syndrome, following the rules of the TNM AJCC v7 classification system.|NCI|N|
C4683560|A term that refers to the staging of mycosis fungoides, following the rules of the TNM AJCC v7 classification system.|NCI|N|
C4683565|A staging system for adult Hodgkin and adult non-Hodgkin lymphomas based on the Lugano classification criteria. This staging system does not apply to ocular adnexal lymphomas (are staged according to the classification for ocular adnexal lymphoma), pediatric lymphomas (are staged according to the classification for pediatric lymphoma), primary cutaneous lymphomas (are staged according to the classification for primary cutaneous lymphoma), and multiple myelomas (are staged according to the classification for plasma cell myeloma). (from AJCC 8th Ed.)|NCI|N|
C4683566|Limited stage adult lymphoma based on the Lugano classification criteria. It includes stages I, IE, II, and IIE. (from AJCC 8th Ed.)|NCI|N|
C4683567|Stage I: Involvement of a single lymphatic site (i.e., nodal region, Waldeyer''s ring, thymus, or spleen). (from AJCC 8th Ed.)|NCI|N|
C4683568|Stage IE: Single extralymphatic site in the absence of nodal involvement (rare in Hodgkin lymphoma). (from AJCC 8th Ed.)|NCI|N|
C4683569|Stage II: Involvement of two or more lymph node regions on the same side of the diaphragm. (from AJCC 8th Ed.)|NCI|N|
C4683570|Stage IIE: Contiguous extralymphatic extension from a nodal site with or without involvement of other lymph node regions on the same side of the diaphragm. (from AJCC 8th Ed.)|NCI|N|
C4683571|Stage II Bulky: Stage II with disease bulk. (from AJCC 8th Ed.)|NCI|N|
C4683572|Stage III: Involvement of lymph node regions on both sides of the diaphragm; nodes above the diaphragm with spleen involvement. (from AJCC 8th Ed.)|NCI|N|
C4683573|Stage IV: Diffuse or disseminated involvement of one or more extralymphatic organs, with or without associated lymph node involvement; or noncontiguous extralymphatic organ involvement in conjunction with nodal stage II disease; or any extralymphatic organ involvement in nodal stage III disease. Stage IV includes any involvement of the CSF, bone marrow, liver, or lungs (other than by direct extension in stage IIE disease). (from AJCC 8th Ed.)|NCI|N|
C4683574|A staging system for adult non-Hodgkin lymphomas based on the Lugano classification criteria. This staging system does not apply to ocular adnexal lymphomas (are staged according to the classification for ocular adnexal lymphoma), pediatric non-Hodgkin lymphomas (are staged according to the St. Jude Children''s Research Hospital staging system), primary cutaneous lymphomas (are staged according to the classification for primary cutaneous lymphoma), and multiple myelomas (are staged according to the classification for plasma cell myeloma). (from AJCC 8th Ed.)|NCI|N|
C4683575|Limited stage adult non-Hodgkin lymphoma based on the Lugano classification criteria. It includes stages I, IE, II, and IIE. (from AJCC 8th Ed.)|NCI|N|
C4683576|Stage I: Involvement of a single lymphatic site (i.e., nodal region, Waldeyer''s ring, thymus, or spleen). (from AJCC 8th Ed.)|NCI|N|
C4683577|Stage IE: Single extralymphatic site in the absence of nodal involvement. (from AJCC 8th Ed.)|NCI|N|
C4683578|Stage II: Involvement of two or more lymph node regions on the same side of the diaphragm. (from AJCC 8th Ed.)|NCI|N|
C4683579|Stage IIE: Contiguous extralymphatic extension from a nodal site with or without involvement of other lymph node regions on the same side of the diaphragm. (from AJCC 8th Ed.)|NCI|N|
C4683580|Stage II Bulky: Stage II with disease bulk. (from AJCC 8th Ed.)|NCI|N|
C4683581|Advanced stage adult non-Hodgkin lymphoma based on the Lugano classification criteria. It includes stages III and IV. (from AJCC 8th Ed.)|NCI|N|
C4683582|Stage III: Involvement of lymph node regions on both sides of the diaphragm; nodes above the diaphragm with spleen involvement. (from AJCC 8th Ed.)|NCI|N|
C4683583|Stage IV: Diffuse or disseminated involvement of one or more extralymphatic organs, with or without associated lymph node involvement; or noncontiguous extralymphatic organ involvement in conjunction with nodal stage II disease; or any extralymphatic organ involvement in nodal stage III disease. Stage IV includes any involvement of the CSF, bone marrow, liver, or lungs (other than by direct extension in stage IIE disease). (from AJCC 8th Ed.)|NCI|N|
C4683584|A staging system for Hodgkin lymphomas based on the Lugano classification criteria. Staging for childhood Hodgkin lymphoma is the same as for the adult counterpart. (from AJCC 8th Ed.)|NCI|N|
C4683585|Limited stage Hodgkin lymphoma based on the Lugano classification criteria. It includes stages I, IE, II, and IIE. (from AJCC 8th Ed.)|NCI|N|
C4683586|Stage I: Involvement of a single lymphatic site (i.e., nodal region, Waldeyer''s ring, thymus, or spleen). (from AJCC 8th Ed.)|NCI|N|
C4683587|Stage IE: Single extralymphatic site in the absence of nodal involvement (rare in Hodgkin lymphoma). (from AJCC 8th Ed.)|NCI|N|
C4683588|Stage II: Involvement of two or more lymph node regions on the same side of the diaphragm. (from AJCC 8th Ed.)|NCI|N|
C4683589|Stage IIE: Contiguous extralymphatic extension from a nodal site with or without involvement of other lymph node regions on the same side of the diaphragm. (from AJCC 8th Ed.)|NCI|N|
C4683590|Stage II Bulky: Stage II with disease bulk. (from AJCC 8th Ed.)|NCI|N|
C4683591|Advanced stage Hodgkin lymphoma based on the Lugano classification criteria. It includes stages III and IV. (from AJCC 8th Ed.)|NCI|N|
C4683592|Stage III: Involvement of lymph node regions on both sides of the diaphragm; nodes above the diaphragm with spleen involvement. (from AJCC 8th Ed.)|NCI|N|
C4683593|Stage IV: Diffuse or disseminated involvement of one or more extralymphatic organs, with or without associated lymph node involvement; or noncontiguous extralymphatic organ involvement in conjunction with nodal stage II disease; or any extralymphatic organ involvement in nodal stage III disease. Stage IV includes any involvement of the CSF, bone marrow, liver, or lungs (other than by direct extension in stage IIE disease). (from AJCC 8th Ed.)|NCI|N|
C4683594|A staging system for childhood Hodgkin lymphomas based on the Lugano classification criteria. Staging for childhood Hodgkin lymphoma is the same as for the adult counterpart. (from AJCC 8th Ed.)|NCI|N|
C4683595|Limited stage childhood Hodgkin lymphoma based on the Lugano classification criteria. It includes stages I, IE, II, and IIE. (from AJCC 8th Ed.)|NCI|N|
C4683596|Stage I: Involvement of a single lymphatic site (i.e., nodal region, Waldeyer''s ring, thymus, or spleen). (from AJCC 8th Ed.)|NCI|N|
C4683597|Stage IE: Single extralymphatic site in the absence of nodal involvement (rare in Hodgkin lymphoma). (from AJCC 8th Ed.)|NCI|N|
C4683598|Stage II: Involvement of two or more lymph node regions on the same side of the diaphragm. (from AJCC 8th Ed.)|NCI|N|
C4683599|Stage IIE: Contiguous extralymphatic extension from a nodal site with or without involvement of other lymph node regions on the same side of the diaphragm. (from AJCC 8th Ed.)|NCI|N|
C4683600|Stage II Bulky: Stage II with disease bulk. (from AJCC 8th Ed.)|NCI|N|
C4683601|Advanced stage childhood Hodgkin lymphoma based on the Lugano classification criteria. It includes stages III and IV. (from AJCC 8th Ed.)|NCI|N|
C4683602|Stage III: Involvement of lymph node regions on both sides of the diaphragm; nodes above the diaphragm with spleen involvement. (from AJCC 8th Ed.)|NCI|N|
C4683603|Stage IV: Diffuse or disseminated involvement of one or more extralymphatic organs, with or without associated lymph node involvement; or noncontiguous extralymphatic organ involvement in conjunction with nodal stage II disease; or any extralymphatic organ involvement in nodal stage III disease. Stage IV includes any involvement of the bone marrow, liver, or lungs (other than by direct extension in stage IIE disease). (from AJCC 8th Ed.)|NCI|N|
C4683605|A staging system for adult Hodgkin lymphomas based on the Lugano classification criteria. Staging for adult Hodgkin lymphoma is the same as for the childhood counterpart. (from AJCC 8th Ed.)|NCI|N|
C4683606|Limited stage adult Hodgkin lymphoma based on the Lugano classification criteria. It includes stages I, IE, II, and IIE. (from AJCC 8th Ed.)|NCI|N|
C4683607|Stage I: Involvement of a single lymphatic site (i.e., nodal region, Waldeyer''s ring, thymus, or spleen). (from AJCC 8th Ed.)|NCI|N|
C4683608|Stage IE: Single extralymphatic site in the absence of nodal involvement (rare in Hodgkin lymphoma). (from AJCC 8th Ed.)|NCI|N|
C4683609|Stage II: Involvement of two or more lymph node regions on the same side of the diaphragm. (from AJCC 8th Ed.)|NCI|N|
C4683610|Stage IIE: Contiguous extralymphatic extension from a nodal site with or without involvement of other lymph node regions on the same side of the diaphragm. (from AJCC 8th Ed.)|NCI|N|
C4683611|Stage II Bulky: Stage II with disease bulk. (from AJCC 8th Ed.)|NCI|N|
C4683612|Advanced stage adult Hodgkin lymphoma based on the Lugano classification criteria. It includes stages III and IV. (from AJCC 8th Ed.)|NCI|N|
C4683613|Stage III: Involvement of lymph node regions on both sides of the diaphragm; nodes above the diaphragm with spleen involvement. (from AJCC 8th Ed.)|NCI|N|
C4683614|Stage IV: Diffuse or disseminated involvement of one or more extralymphatic organs, with or without associated lymph node involvement; or noncontiguous extralymphatic organ involvement in conjunction with nodal stage II disease; or any extralymphatic organ involvement in nodal stage III disease. Stage IV includes any involvement of the CSF, bone marrow, liver, or lungs (other than by direct extension in stage IIE disease). (from AJCC 8th Ed.)|NCI|N|
C4683615|Staging systems for Hodgkin and non-Hodgkin lymphomas of childhood. Different systems are used for Hodgkin lymphoma and non-Hodgkin lymphoma of childhood. Staging of childhood Hodgkin lymphoma is the same as for the adult counterpart and is based on the Lugano classification criteria. The Ann Arbor staging system has been found to be inappropriate for staging of the non-Hodgkin lymphomas of childhood. The St. Jude staging system has been widely accepted and remains the recommended staging system for non-Hodgkin lymphomas of childhood. (from AJCC 8th Ed.)|NCI|N|
C4683616|A blood concentration of prostate specific antigen greater than or equal to 0.05 ng/mL.|NCI|N|
C4683617|A blood concentration of prostate specific antigen less than 0.7 ng/mL.|NCI|N|
C4683618|A term that refers to the staging of Hodgkin lymphoma and non-Hodgkin lymphoma according to the AJCC v8 classification guidelines.|NCI|N|
C4683619|A term that refers to the staging of chronic lymphocytic leukemia according to modified Rai staging system. This system is mainly used in North America.|NCI|N|
C4683621|A term that refers to the staging of chronic lymphocytic leukemia according to Binet staging system. This system is in wide use outside the United States.|NCI|N|
C4683622|Findings: Lymphocytosis only; Survival (months): more than 120. (from AJCC 8th Ed.)|NCI|N|
C4683623|Findings: Lymphocytosis and adenopathy; Survival (months): 95. (from AJCC 8th Ed.)|NCI|N|
C4683624|Findings: Lymphocytosis, adenopathy, and enlarged spleen and/or liver; Survival (months): 72. (from AJCC 8th Ed.)|NCI|N|
C4683628|A staging system for childhood non-Hodgkin Lymphomas based on the St. Jude Children''s Research Hospital staging system. The Ann Arbor staging system has been found to be inappropriate for staging of the non-Hodgkin lymphomas of childhood. The St. Jude staging system has been widely accepted for more than three decades and remains the recommended staging system for childhood non-Hodgkin lymphomas. (from AJCC 8th Ed.)|NCI|N|
C4683629|Stage I: A single tumor (extranodal) or single anatomic area (nodal), with the exclusion of the mediastinum or abdomen. (from AJCC 8th Ed.)|NCI|N|
C4683630|Stage II: A single tumor (extranodal) with regional node involvement. Two or more nodal areas on the same side of the diaphragm. Two single (extranodal) tumors with or without regional node involvement on the same side of the diaphragm. A primary gastrointestinal tract tumor, usually in the ileocecal area, with or without involvement of associated mesenteric nodes only. (from AJCC 8th Ed.)|NCI|N|
C4683631|Stage III: Two single tumors (extranodal) on opposite sides of the diaphragm. Two or more nodal areas above and below the diaphragm. All the primary intrathoracic tumors (mediastinal, pleural, and thymic). All extensive primary intra-abdominal disease. All paraspinal or epidural tumors, regardless of other tumor site(s). (from AJCC 8th Ed.)|NCI|N|
C4683632|Stage IV: Any tumor, with initial CNS and/or bone marrow involvement. (from AJCC 8th Ed.)|NCI|N|
C4683633|An anatomic stage for lymphocyte-depleted classic Hodgkin lymphoma based on the Ann Arbor classification criteria.|NCI|N|
C4683634|An anatomic stage for nodular sclerosis classic Hodgkin lymphoma based on the Ann Arbor classification criteria.|NCI|N|
C4683635|An anatomic stage for mixed cellularity classic Hodgkin lymphoma based on the Ann Arbor classification criteria.|NCI|N|
C4683636|An anatomic stage for adult Hodgkin lymphoma based on the Ann Arbor classification criteria.|NCI|N|
C4683637|An anatomic stage for childhood Hodgkin lymphoma based on the Ann Arbor classification criteria.|NCI|N|
C4683638|A response indicating that an individual is able to eat a normal diet.|NCI|N|
C4683639|A response indicating that an individual is able to eat only some solid food.|NCI|N|
C4683640|A response indicating that an individual is able to eat only some semisolids.|NCI|N|
C4683641|A response indicating that an individual is able to only swallow liquids.|NCI|N|
C4683642|A change in the nucleotide sequence of a gene in the BRCA family that is associated with increased risk of disease.|NCI|N|
C4683643|A laboratory test result indicating that beta-2-microglobulin is present in a sample at concentrations exceeding 3 g/mL.|NCI|N|
C4683644|An anatomic stage for adult non-Hodgkin lymphoma based on the Ann Arbor classification criteria.|NCI|N|
C4683645|An anatomic stage for childhood non-Hodgkin lymphoma based on the Ann Arbor classification criteria.|NCI|N|
C4683646|An irregularity in the structure of chromosome 13.|NCI|N|
C4683647|An indication that coma has lasted more than 24 hours.|NCI|N|
C4683648|A change in the nucleotide sequence of a receptor tyrosine kinase family gene.|NCI|N|
C4683649|An indication that death occurred on or within 90 days of a patient''s initial admission to a hospital.|NCI|N|
C4683650|Delayed stomach emptying as a result of surgery.|NCI|N|
C4683651|An anatomic stage for B-cell non-Hodgkin lymphoma based on the Ann Arbor classification criteria.|NCI|N|
C4683652|A failure of function of a graft, flap, or prosthesis.|NCI|N|
C4683653|An indication that respiratory ventilation was in use for more than 48 hours.|NCI|N|
C4683654|An anatomic stage for T-cell non-Hodgkin lymphoma based on the Ann Arbor classification criteria.|NCI|N|
C4683655|A change in the nucleotide sequence of a gene involved in homologous recombination-type DNA repair processes that is associated with increased risk of disease.|NCI|N|
C4683656|An anatomic stage for B-lymphoblastic lymphoma based on the Ann Arbor classification criteria.|NCI|N|
C4683657|A change in the nucleotide sequence of a CCAAT enhancer binding protein family gene.|NCI|N|
C4683658|A change in the nucleotide sequence of the RNF43 gene.|NCI|N|
C4683659|An anatomic stage for Burkitt lymphoma based on the Ann Arbor classification criteria.|NCI|N|
C4683660|An anatomic stage for diffuse large B-cell lymphoma based on the Ann Arbor classification criteria.|NCI|N|
C4683661|An anatomic stage for follicular lymphoma based on the Ann Arbor classification criteria.|NCI|N|
C4683662|An anatomic stage for lymphoplasmacytic lymphoma based on the Ann Arbor classification criteria.|NCI|N|
C4683663|An anatomic stage for marginal zone lymphoma based on the Ann Arbor classification criteria.|NCI|N|
C4683664|An anatomic stage for small lymphocytic lymphoma based on the Ann Arbor classification criteria.|NCI|N|
C4683665|An anatomic stage for extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue based on the Ann Arbor classification criteria.|NCI|N|
C4683666|An anatomic stage for nodal marginal zone lymphoma based on the Ann Arbor classification criteria.|NCI|N|
C4683667|An anatomic stage for mediastinal (thymic) large B-cell lymphoma based on the Ann Arbor classification criteria.|NCI|N|
C4683668|An anatomic stage for centroblastic lymphoma based on the Ann Arbor classification criteria.|NCI|N|
C4683672|Cardiac arrest that is treated by CPR and/or defibrillation, regardless of outcome.|NCI|N|
C4683675|An anatomic stage for mature T- and NK-cell non-Hodgkin lymphomas based on the Ann Arbor classification criteria.|NCI|N|
C4683678|A molecular genetic abnormality indicating the presence of multiple copies of the AXL gene.|NCI|N|
C4683679|A change in the nucleotide sequence of the AXL gene.|NCI|N|
C4683686|An anatomic stage for adult T-cell leukemia/lymphoma based on the Ann Arbor classification criteria.|NCI|N|
C4683687|An anatomic stage for noncutaneous anaplastic large cell lymphoma based on the Ann Arbor classification criteria.|NCI|N|
C4683690|An anatomic stage for noncutaneous childhood anaplastic large cell lymphoma based on the Ann Arbor classification criteria.|NCI|N|
C4683691|An anatomic stage for angioimmunoblastic T-cell lymphoma based on the Ann Arbor classification criteria.|NCI|N|
C4683692|An anatomic stage for enteropathy-associated T-cell lymphoma based on the Ann Arbor classification criteria.|NCI|N|
C4683693|An anatomic stage for nasal type NK/T-cell lymphoma based on the Ann Arbor classification criteria.|NCI|N|
C4683694|A semi-quantitative microscopic finding indicating that 30 percent or less of the nucleated cells in a bone marrow sample are immature mononuclear cells.|NCI|N|
C4683696|A semi-quantitative microscopic finding indicating that 5 percent or more of the nucleated cells in a peripheral leukocyte sample are immature mononuclear cells.|NCI|N|
C4683700|A finding about one or more characteristics of primary cutaneous lymphoma [mycosis fungoides and Sezary syndrome (MF/SS) and primary cutaneous B-cell/T-cell (non-MF/SS) lymphomas], following the rules of the TNM v8 classification system. Both MF/SS and primary cutaneous B-cell/T-cell (non-MF/SS) lymphomas have TNM classification systems. MF/SS has a formal prognostic stage groups system proposed by the International Society for Cutaneous Lymphomas (ISCL) and the cutaneous lymphoma task force of the European Organisation for Research and Treatment of Cancer (EORTC). There is no prognostic stage groups system for primary cutaneous B-cell/T-cell (non-MF/SS) lymphomas at this time. This classification system does not apply to eyelid skin lymphomas (are staged according to the classification for ocular adnexal lymphoma). (from AJCC 8th Ed.)|NCI|N|
C4683701|A finding about one or more characteristics of mycosis fungoides and Sezary syndrome, following the rules of the TNM AJCC v8 classification system. This classification is based on the ISCL/EORTC revision to the classification of mycosis fungoides and Sezary syndrome. (from AJCC 8th Ed.)|NCI|N|
C4683703|No visceral organ involvement. (from AJCC 8th Ed.)|NCI|N|
C4683704|Visceral involvement (must have pathology confirmation and organ involved should be specified). Note: for viscera, spleen and liver may be diagnosed by imaging criteria. (from AJCC 8th Ed.)|NCI|N|
C4683705|A finding about one or more characteristics of mycosis fungoides and Sezary syndrome, following the rules of the TNM AJCC v8 classification system as they pertain to staging of peripheral lymph nodes.|NCI|N|
C4683706|Clinically abnormal peripheral lymph nodes; no histologic confirmation. (from AJCC 8th Ed.)|NCI|N|
C4683707|No clinically abnormal peripheral lymph nodes; biopsy not required. Note: for node, abnormal peripheral lymph node(s) indicates any palpable peripheral node that on physical examination is firm, irregular, clustered, fixed or 1.5 cm or larger in diameter. Node groups examined on physical examination include cervical, supraclavicular, epitrochlear, axillary, and inguinal. Central nodes, which generally are not amenable to pathological assessment, currently are not considered in the nodal classification unless used to establish N3 histopathologically. (from AJCC 8th Ed.)|NCI|N|
C4683708|Clinically abnormal peripheral lymph nodes; histopathology Dutch grade 1 or National Cancer Institute (NCI) LN0-2. Note: EORTC N1 classification includes: Dutch grade 1: dermatopathic lymphadenopathy. NCI LN0: no atypical lymphocytes. NCI LN1: occasional and isolated atypical lymphocytes (not arranged in clusters). NCI LN2: many atypical lymphocytes or lymphocytes in 3-6 cell clusters. (from AJCC 8th Ed.)|NCI|N|
C4683709|Clone negative. Note: A T-cell clone is defined by polymerase chain reaction (PCR) or Southern blot analysis of the TCR gene. (from AJCC 8th Ed.)|NCI|N|
C4683710|Clone positive. Note: A T-cell clone is defined by polymerase chain reaction (PCR) or Southern blot analysis of the TCR gene. (from AJCC 8th Ed.)|NCI|N|
C4683711|Clinically abnormal peripheral lymph nodes; histopathology Dutch grade 2 or NCI LN3. Note: EORTC N2 classification includes Dutch grade 2: dermatopathic lymphadenopathy; early involvement by mycosis fungoides (presence of cerebriform nuclei less than 7.5 micrometers). NCI LN3: aggregates of atypical lymphocytes; nodal architecture preserved. (from AJCC 8th Ed.)|NCI|N|
C4683713|Clone negative. Note: A T-cell clone is defined by polymerase chain reaction (PCR) or Southern blot analysis of the TCR gene. (from AJCC 8th Ed.)|NCI|N|
C4683714|Clone positive. Note: A T-cell clone is defined by polymerase chain reaction (PCR) or Southern blot analysis of the TCR gene. (from AJCC 8th Ed.)|NCI|N|
C4683715|Clinically abnormal peripheral lymph nodes; histopathology Dutch grades 3-4 or NCI LN4; clone positive or negative. Note: EORTC N3 classification includes: Dutch grade 3: partial effacement of lymph node architecture; many atypical cerebriform mononuclear cells. Dutch grade 4: complete effacement of lymph node. NCI LN4: partial/complete effacement of nodal architecture by atypical lymphocytes or frankly neoplastic cells. (from AJCC 8th Ed.)|NCI|N|
C4683717|A finding about one or more characteristics of mycosis fungoides and Sezary syndrome, following the rules of the TNM AJCC v8 classification system as they pertain to peripheral blood involvement.|NCI|N|
C4683718|Absence of significant blood involvement: 5% or less of peripheral blood lymphocytes are atypical (Sezary cells). Note: for blood, Sezary cells are defined as lymphocytes with hyperconvoluted cerebriform nuclei. If Sezary cells cannot be used to determine tumor burden for B2, then one of the following modified ISCL criteria along with a positive clonal rearrangement of the TCR may be used instead: (1) expanded CD4+ or CD3+ cells with CD4/CD8 ratio of 10 or more, (2) expanded CD4+ cells with abnormal immunophenotype including loss of CD7 or CD26. (from AJCC 8th Ed.)|NCI|N|
C4683719|Clone negative. Note: A T-cell clone is defined by polymerase chain reaction (PCR) or Southern blot analysis of the TCR gene. (from AJCC 8th Ed.)|NCI|N|
C4683720|Clone positive. Note: A T-cell clone is defined by polymerase chain reaction (PCR) or Southern blot analysis of the TCR gene. (from AJCC 8th Ed.)|NCI|N|
C4683721|Low blood tumor burden: more than 5% of peripheral blood lymphocytes are atypical (Sezary) cells but does not meet the criteria of B2. (from AJCC 7th Ed.)|NCI|N|
C4683722|Clone negative. Note: A T-cell clone is defined by polymerase chain reaction (PCR) or Southern blot analysis of the TCR gene. (from AJCC 8th Ed.)|NCI|N|
C4683723|Clone positive. Note: A T-cell clone is defined by polymerase chain reaction (PCR) or Southern blot analysis of the TCR gene. (from AJCC 8th Ed.)|NCI|N|
C4683724|High blood tumor burden: 1,000 per microliter or more Sezary cells with positive clone. Note 1: for blood, Sezary cells are defined as lymphocytes with hyperconvoluted cerebriform nuclei. If Sezary cells cannot be used to determine tumor burden for B2, then one of the following modified ISCL criteria along with a positive clonal rearrangement of the TCR may be used instead: (1) expanded CD4+ or CD3+ cells with CD4/CD8 ratio of 10 or more, (2) expanded CD4+ cells with abnormal immunophenotype including loss of CD7 or CD26. Note 2: A T-cell clone is defined by PCR or Southern blot analysis of the T-cell receptor gene. (from AJCC 8th Ed.)|NCI|N|
C4683725|A finding about one or more characteristics of mycosis fungoides and Sezary syndrome, following the rules of the TNM AJCC v8 classification system as they pertain to staging of the primary tumor (skin).|NCI|N|
C4683726|Limited patches, papules, and/or plaques covering less than 10% of the skin surface. Note: for skin, patch indicates any size skin lesion without significant elevation or induration. Presence/absence of hypo- or hyperpigmentation, scale, crusting, and/or poikiloderma should be noted. Plaque indicates any size skin lesion that is elevated or indurated. Presence or absence of scale, crusting, and/or poikiloderma should be noted. Histologic features such as folliculotropism, large-cell transformation (more than 25% large cells), and CD30 positivity or negativity, as well as clinical features such as ulceration are important to document. (from AJCC 8th Ed.)|NCI|N|
C4683727|T1a (patch only). (from AJCC 8th Ed.)|NCI|N|
C4683728|T1b (plaque +/- patch). (from AJCC 8th Ed.)|NCI|N|
C4683729|Patches, papules, or plaques covering 10% or more of the skin surface. (from AJCC 8th Ed.)|NCI|N|
C4683730|T2a (patch only). (from AJCC 8th Ed.)|NCI|N|
C4683731|T2b (plaque +/- patch). (from AJCC 8th Ed.)|NCI|N|
C4683732|One or more tumors (equal or greater than 1 cm in diameter). Note: for skin, tumor indicates at least 1 cm diameter solid or nodular lesion with evidence of depth and/or vertical growth. Note the total number of lesions, total volume of lesions, largest size lesion, and region of body involved. Also note whether there is histologic evidence of large-cell transformation. Phenotyping for CD30 is encouraged. (from AJCC 8th Ed.)|NCI|N|
C4683733|Confluence of erythema covering 80% or more of body surface area. (from AJCC 8th Ed.)|NCI|N|
C4683734|A molecular genetic abnormality indicating the presence of multiple copies of the PIK3CB gene.|NCI|N|
C4683735|A change in the nucleotide sequence of the PIK3CB gene.|NCI|N|
C4683738|A term that refers to the staging of mycosis fungoides and Sezary syndrome, following the rules of the TNM AJCC v8 classification system. This prognostic stage groups system is based on the ISCL/EORTC revision to the staging of mycosis fungoides and Sezary syndrome. There is no prognostic stage groups system for primary cutaneous B-cell/T-cell (non-mycosis fungoides/Sezary syndrome) lymphomas at this time. This staging system does not apply to eyelid skin lymphomas (are staged according to the classification for ocular adnexal lymphoma). (from AJCC 8th Ed.)|NCI|N|
C4683739|Stage I includes: IA (T1, N0, M0, B0,1); IB (T2, N0, M0, B0,1). T1: Limited patches, papules, and/or plaques covering less than 10% of the skin surface. T2: Patches, papules, or plaques covering 10% or more of the skin surface. N0: No clinically abnormal peripheral lymph nodes; biopsy not required. M0: No visceral organ involvement. B0: Absence of significant blood involvement: 5% or less of peripheral blood lymphocytes are atypical (Sezary cells). B1: Low blood tumor burden: more than 5% of peripheral blood lymphocytes are atypical (Sezary cells) but does not meet the criteria of B2. (AJCC 8th ed.)|NCI|N|
C4683740|Stage IA includes: T1, N0, M0, B0,1. T1: Limited patches, papules, and/or plaques covering less than 10% of the skin surface. N0: No clinically abnormal peripheral lymph nodes; biopsy not required. M0: No visceral organ involvement. B0: Absence of significant blood involvement: 5% or less of peripheral blood lymphocytes are atypical (Sezary cells). B1: Low blood tumor burden: more than 5% of peripheral blood lymphocytes are atypical (Sezary cells) but does not meet the criteria of B2. (AJCC 8th ed.)|NCI|N|
C4683741|Stage IB includes: T2, N0, M0, B0,1. T2: Patches, papules, or plaques covering 10% or more of the skin surface. N0: No clinically abnormal peripheral lymph nodes; biopsy not required. M0: No visceral organ involvement. B0: Absence of significant blood involvement: 5% or less of peripheral blood lymphocytes are atypical (Sezary cells). B1: Low blood tumor burden: more than 5% of peripheral blood lymphocytes are atypical (Sezary cells) but does not meet the criteria of B2. (AJCC 8th ed.)|NCI|N|
C4683742|Stage II includes: IIA (T1,2, N1,2, M0, B0,1); IIB (T3, N0-2, M0, B0,1). T1: Limited patches, papules, and/or plaques covering less than 10% of the skin surface. T2: Patches, papules, or plaques covering 10% or more of the skin surface. T3: One or more tumors (equal or greater than 1 cm in diameter). N0: No clinically abnormal peripheral lymph nodes; biopsy not required. N1: Clinically abnormal peripheral lymph nodes; histopathology Dutch grade 1 or National Cancer Institute (NCI) LN0-2. N2: Clinically abnormal peripheral lymph nodes; histopathology Dutch grade 2 or NCI LN3. M0: No visceral organ involvement. B0: Absence of significant blood involvement: 5% or less of peripheral blood lymphocytes are atypical (Sezary cells). B1: Low blood tumor burden: more than 5% of peripheral blood lymphocytes are atypical (Sezary cells) but does not meet the criteria of B2. (AJCC 8th ed.)|NCI|N|
C4683743|Stage IIA includes: T1-2, N1,2, M0, B0,1. T1: Limited patches, papules, and/or plaques covering less than 10% of the skin surface. T2: Patches, papules, or plaques covering 10% or more of the skin surface. N1: Clinically abnormal peripheral lymph nodes; histopathology Dutch grade 1 or National Cancer Institute (NCI) LN0-2. N2: Clinically abnormal peripheral lymph nodes; histopathology Dutch grade 2 or NCI LN3. M0: No visceral organ involvement. B0: Absence of significant blood involvement: 5% or less of peripheral blood lymphocytes are atypical (Sezary cells). B1: Low blood tumor burden: more than 5% of peripheral blood lymphocytes are atypical (Sezary cells) but does not meet the criteria of B2. (AJCC 8th ed.)|NCI|N|
C4683744|Stage IIB includes: T3, N0-2, M0, B0,1. T3: One or more tumors (equal or greater than 1 cm in diameter). N0: No clinically abnormal peripheral lymph nodes; biopsy not required. N1: Clinically abnormal peripheral lymph nodes; histopathology Dutch grade 1 or National Cancer Institute (NCI) LN0-2. N2: Clinically abnormal peripheral lymph nodes; histopathology Dutch grade 2 or NCI LN3. M0: No visceral organ involvement. B0: Absence of significant blood involvement: 5% or less of peripheral blood lymphocytes are atypical (Sezary cells). B1: Low blood tumor burden: more than 5% of peripheral blood lymphocytes are atypical (Sezary cells) but does not meet the criteria of B2. (AJCC 8th ed.)|NCI|N|
C4683745|Stage III includes: (T4, N0-2, M0, B0,1); IIIA (T4, N0-2, M0, B0); IIIB (T4, N0-2, M0, B1). T4: Confluence of erythema covering 80% or more of body surface area. N0: No clinically abnormal peripheral lymph nodes; biopsy not required. N1: Clinically abnormal peripheral lymph nodes; histopathology Dutch grade 1 or National Cancer Institute (NCI) LN0-2. N2: Clinically abnormal peripheral lymph nodes; histopathology Dutch grade 2 or NCI LN3. M0: No visceral organ involvement. B0: Absence of significant blood involvement: 5% or less of peripheral blood lymphocytes are atypical (Sezary cells). B1: Low blood tumor burden: more than 5% of peripheral blood lymphocytes are atypical (Sezary cells) but does not meet the criteria of B2. (AJCC 8th ed.)|NCI|N|
C4683746|Stage IIIA includes: T4, N0-2, M0, B0. T4: Confluence of erythema covering 80% or more of body surface area. N0: No clinically abnormal peripheral lymph nodes; biopsy not required. N1: Clinically abnormal peripheral lymph nodes; histopathology Dutch grade 1 or National Cancer Institute (NCI) LN0-2. N2: Clinically abnormal peripheral lymph nodes; histopathology Dutch grade 2 or NCI LN3. M0: No visceral organ involvement. B0: Absence of significant blood involvement: 5% or less of peripheral blood lymphocytes are atypical (Sezary cells). (AJCC 8th ed.)|NCI|N|
C4683747|Stage IIIB includes: T4, N0-2, M0, B1. T4: Confluence of erythema covering 80% or more of body surface area. N0: No clinically abnormal peripheral lymph nodes; biopsy not required. N1: Clinically abnormal peripheral lymph nodes; histopathology Dutch grade 1 or National Cancer Institute (NCI) LN0-2. N2: Clinically abnormal peripheral lymph nodes; histopathology Dutch grade 2 or NCI LN3. M0: No visceral organ involvement. B1: Low blood tumor burden: more than 5% of peripheral blood lymphocytes are atypical (Sezary cells) but does not meet the criteria of B2. (AJCC 8th ed.)|NCI|N|
C4683748|Stage IV includes: IVA1 (T1-4, N0-2, M0, B2); IVA2 (T1-4, N3, M0, B0-2); IVB (T1-4, N0-3, M1, B0-2). T1: Limited patches, papules, and/or plaques covering less than 10% of the skin surface. T2: Patches, papules, or plaques covering 10% or more of the skin surface. T3: One or more tumors (equal or greater than 1 cm in diameter). T4: Confluence of erythema covering 80% or more of body surface area. N0: No clinically abnormal peripheral lymph nodes; biopsy not required. N1: Clinically abnormal peripheral lymph nodes; histopathology Dutch grade 1 or National Cancer Institute (NCI) LN0-2. N2: Clinically abnormal peripheral lymph nodes; histopathology Dutch grade 2 or NCI LN3. N3: Clinically abnormal peripheral lymph nodes; histopathology Dutch grades 3-4 or NCI LN4; clone positive or negative. M0: No visceral organ involvement. M1: Visceral involvement (must have pathology confirmation and organ involved should be specified). B0: Absence of significant blood involvement: 5% or less of peripheral blood lymphocytes are atypical (Sezary cells). B1: Low blood tumor burden: more than 5% of peripheral blood lymphocytes are atypical (Sezary cells) but does not meet the criteria of B2. B2: High blood tumor burden: 1,000 per microliter or more Sezary cells with positive clone. (AJCC 8th ed.)|NCI|N|
C4683749|Stage IVA1 includes: T1-4, N0-2, M0, B2. T1: Limited patches, papules, and/or plaques covering less than 10% of the skin surface. T2: Patches, papules, or plaques covering 10% or more of the skin surface. T3: One or more tumors (equal or greater than 1 cm in diameter). T4: Confluence of erythema covering 80% or more of body surface area. N0: No clinically abnormal peripheral lymph nodes; biopsy not required. N1: Clinically abnormal peripheral lymph nodes; histopathology Dutch grade 1 or National Cancer Institute (NCI) LN0-2. N2: Clinically abnormal peripheral lymph nodes; histopathology Dutch grade 2 or NCI LN3. M0: No visceral organ involvement. B2: High blood tumor burden: 1,000 per microliter or more Sezary cells with positive clone. (AJCC 8th ed.)|NCI|N|
C4683750|Stage IVA2 includes: T1-4, N3, M0, B0-2. T1: Limited patches, papules, and/or plaques covering less than 10% of the skin surface. T2: Patches, papules, or plaques covering 10% or more of the skin surface. T3: One or more tumors (equal or greater than 1 cm in diameter). T4: Confluence of erythema covering 80% or more of body surface area. N3: Clinically abnormal peripheral lymph nodes; histopathology Dutch grades 3-4 or NCI LN4; clone positive or negative. M0: No visceral organ involvement. B0: Absence of significant blood involvement: 5% or less of peripheral blood lymphocytes are atypical (Sezary cells). B1: Low blood tumor burden: more than 5% of peripheral blood lymphocytes are atypical (Sezary cells) but does not meet the criteria of B2. B2: High blood tumor burden: 1,000 per microliter or more Sezary cells with positive clone. (AJCC 8th ed.)|NCI|N|
C4683751|Stage IVB includes: T1-4, N0-3, M1, B0-2. T1: Limited patches, papules, and/or plaques covering less than 10% of the skin surface. T2: Patches, papules, or plaques covering 10% or more of the skin surface. T3: One or more tumors (equal or greater than 1 cm in diameter). T4: Confluence of erythema covering 80% or more of body surface area. N0: No clinically abnormal peripheral lymph nodes; biopsy not required. N1: Clinically abnormal peripheral lymph nodes; histopathology Dutch grade 1 or National Cancer Institute (NCI) LN0-2. N2: Clinically abnormal peripheral lymph nodes; histopathology Dutch grade 2 or NCI LN3. N3: Clinically abnormal peripheral lymph nodes; histopathology Dutch grades 3-4 or NCI LN4; clone positive or negative. M1: Visceral involvement (must have pathology confirmation and organ involved should be specified). B0: Absence of significant blood involvement: 5% or less of peripheral blood lymphocytes are atypical (Sezary cells). B1: Low blood tumor burden: more than 5% of peripheral blood lymphocytes are atypical (Sezary cells) but does not meet the criteria of B2. B2: High blood tumor burden: 1,000 per microliter or more Sezary cells with positive clone. (AJCC 8th ed.)|NCI|N|
C4683754|A change in the nucleotide sequence of the AKT2 gene.|NCI|N|
C4683756|A molecular abnormality indicating the presence of an abnormally high level of the G1/S-specific cyclin-D2 protein.|NCI|N|
C4683757|Leukemia that occurs in a pig.|NCI|N|
C4683758|A beta thalassemia resulting from an unequal crossover/recombination event involving portions of the delta and beta globin genes, resulting in underproduction of the abnormal delta-beta globin.|NCI|N|
C4683759|A molecular abnormality indicating the presence of an abnormally high level of the G1/S-specific cyclin-D3 protein.|NCI|N|
C4683760|A blood concentration of prostate specific antigen greater than 0.03 ng/mL.|NCI|N|
C4683761|A change in the nucleotide sequence of the ERBB3 gene that that results in constitutive activation of receptor tyrosine-protein kinase erbB-3 and its downstream signaling pathways.|NCI|N|
C4683762|A finding about one or more characteristics of primary cutaneous B-cell/T-cell [non-mycosis fungoides/Sezary syndrome (non-MF/SS)] lymphoma, following the rules of the TNM AJCC v8 classification system. There is no stage group system for non-MF/SS primary cutaneous lymphomas- including cutaneous T-cell, B-cell, and NK-cell lymphomas. (from AJCC 8th Ed.)|NCI|N|
C4683763|A finding about one or more characteristics of primary cutaneous B-cell/T-cell (non-MF/SS) lymphoma, following the rules of the TNM AJCC v8 classification system as they pertain to distant metastases. (from AJCC 8th Ed.)|NCI|N|
C4683764|No evidence of extracutaneous non-lymph node disease. (from AJCC 8th Ed.)|NCI|N|
C4683765|Extracutaneous non-lymph node disease present. (from AJCC 8th Ed.)|NCI|N|
C4683766|A finding about one or more characteristics of primary cutaneous B-cell/T-cell (non-MF/SS) lymphoma, following the rules of the TNM AJCC v8 classification system as they pertain to staging of regional lymph nodes.|NCI|N|
C4683767|Regional lymph nodes cannot be assessed. (from AJCC 8th Ed.)|NCI|N|
C4683768|No clinical or pathological lymph node involvement. (from AJCC 8th Ed.)|NCI|N|
C4683769|Involvement of one peripheral node region that drains an area of current or prior skin involvement. (from AJCC 8th Ed.)|NCI|N|
C4683770|Involvement of two or more peripheral node regions or involvement of any lymph node region that does not drain an area of current or prior skin involvement. (from AJCC 8th Ed.)|NCI|N|
C4683771|Involvement of central lymph nodes. (from AJCC 8th Ed.)|NCI|N|
C4683772|A finding about one or more characteristics of primary cutaneous B-cell/T-cell (non-MF/SS) lymphoma, following the rules of the TNM AJCC v8 classification system as they pertain to staging of the primary tumor (skin).|NCI|N|
C4683773|Solitary skin involvement. (from AJCC 8th Ed.)|NCI|N|
C4683774|Solitary lesion measuring less than 5 cm. (from AJCC 8th Ed.)|NCI|N|
C4683775|Solitary lesion measuring 5 cm or more. (from AJCC 8th Ed.)|NCI|N|
C4683776|Regional skin involvement: multiple lesions limited to one body region or two contiguous body regions. (from AJCC 8th Ed.)|NCI|N|
C4683777|All disease encompassing in a less than 15-cm circular area. (from AJCC 8th Ed.)|NCI|N|
C4683778|All disease encompassing in a 15-cm or more and less than 30-cm circular area. (from AJCC 8th Ed.)|NCI|N|
C4683779|All disease encompassing in a 30-cm or more circular area. (from AJCC 8th Ed.)|NCI|N|
C4683780|Generalized skin involvement. (from AJCC 8th Ed.)|NCI|N|
C4683782|A staging system for plasma cell myeloma based on the Revised International Staging System (RISS) criteria. This staging system does not apply to smoldering multiple myeloma (no AJCC staging system), monoclonal gammopathy of undetermined significance (no AJCC staging system), and Waldenstrom macroglobulinemia (no AJCC staging system). (from AJCC 8th Ed.)|NCI|N|
C4683783|Serum beta-2-microglobulin less than 3.5 mg/L and serum albumin 3.5 g/dL or more and no high-risk cytogenetics and normal LDH. High risk cytogenetics consist of one or more of the following: del17p, t(4;14), or t(14;16). (from AJCC 8th Ed.)|NCI|N|
C4683784|Not stage I or III. (from AJCC 8th Ed.)|NCI|N|
C4683785|Serum beta-2-microglobulin 5.5 mg/L or more and high-risk cytogenetics and/or high LDH. High risk cytogenetics consist of one or more of the following: del17p, t(4;14), or t(14;16). (from AJCC 8th Ed.)|NCI|N|
C4683786|A cytogenic abnormality that refers to loss of all or part of the short arm of chromosome 4 (4p).|NCI|N|
C4683790|A molecular abnormality indicating rearrangement of the DDIT3 gene.|NCI|N|
C4683793|A blood concentration of prostate specific antigen less than 25 ng/mL.|NCI|N|
C4683796|A subjective score of 0 on a prognostic scale that ranges from 0 to 7.|NCI|N|
C4683797|A subjective score of 1 on a prognostic scale that ranges from 0 to 7.|NCI|N|
C4683798|A subjective score of 2 on a prognostic scale that ranges from 0 to 7.|NCI|N|
C4683799|A subjective score of 3 on a prognostic scale that ranges from 0 to 7.|NCI|N|
C4683800|A subjective score of 4 on a prognostic scale that ranges from 0 to 7.|NCI|N|
C4683801|A subjective score of 5 on a prognostic scale that ranges from 0 to 7.|NCI|N|
C4683802|A subjective score of 6 on a prognostic scale that ranges from 0 to 7.|NCI|N|
C4683803|A subjective score of 7 on a prognostic scale that ranges from 0 to 7.|NCI|N|
C4683837|The assumption that a person is still living.|NCI|N|
C4683867|A response indicating that an individual''s malignant bowel obstruction is resolved and they are managing their care without assistance.|NCI|N|
C4683868|A response indicating that an individual is not experiencing malignant bowel obstruction symptoms but has issues with constipation.|NCI|N|
C4683869|A response indicating that an individual is experiencing malignant bowel obstruction symptoms and is receiving ambulatory care.|NCI|N|
C4683870|A response indicating that an individual is experiencing malignant bowel obstruction symptoms and is receiving care while in hospital.|NCI|N|
C4683871|A response indicating that an individual is experiencing malignant bowel obstruction symptoms and is receiving best supportive care primarily managed by a palliative care team.|NCI|N|
C4683876|A subjective score of 0 on a pain scale that ranges from 0: No Pain to 10: Worst Possible Pain.|NCI|N|
C4683877|A subjective score of 1 on a pain scale that ranges from 0: No Pain to 10: Worst Possible Pain.|NCI|N|
C4683878|A subjective score of 2 on a pain scale that ranges from 0: No Pain to 10: Worst Possible Pain.|NCI|N|
C4683879|A subjective score of 3 on a pain scale that ranges from 0: No Pain to 10: Worst Possible Pain.|NCI|N|
C4683880|A subjective score of 4 on a pain scale that ranges from 0: No Pain to 10: Worst Possible Pain.|NCI|N|
C4683881|A subjective score of 5 on a pain scale that ranges from 0: No Pain to 10: Worst Possible Pain.|NCI|N|
C4683882|A subjective score of 6 on a pain scale that ranges from 0: No Pain to 10: Worst Possible Pain.|NCI|N|
C4683883|A subjective score of 7 on a pain scale that ranges from 0: No Pain to 10: Worst Possible Pain.|NCI|N|
C4683884|A subjective score of 8 on a pain scale that ranges from 0: No Pain to 10: Worst Possible Pain.|NCI|N|
C4683885|A subjective score of 9 on a pain scale that ranges from 0: No Pain to 10: Worst Possible Pain.|NCI|N|
C4683972|A response indicating that an individual is pretty much bedridden, rarely out of bed.|NCI|N|
C4684395|A nucleotide substitution at position 1948 of the coding sequence of the FGFR3 gene where adenine has been mutated to guanine.|NCI|N|
C4684396|A change in the amino acid residue at position 250 in the fibroblast growth factor receptor 3 protein where lysine has been replaced by glutamic acid.|NCI|N|
C4684397|A nucleotide substitution at position 2525 of the coding sequence of the FLT3 gene where adenine has been mutated to guanine.|NCI|N|
C4684398|A change in the amino acid residue at position 842 in the receptor-type tyrosine-protein kinase FLT3 protein where tyrosine has been replaced by cysteine.|NCI|N|
C4684399|A finding indicating elevated concentrations of catecholamine metabolites in a biological sample.|NCI|N|
C4684402|A blood concentration of prostate specific antigen greater than or equal to 0.01 ng/mL.|NCI|N|
C4684405|A blood concentration of prostate specific antigen less than 150 ng/mL.|NCI|N|
C4684406|A blood concentration of prostate specific antigen between 0.1 ng/mL and 0.7 ng/mL.|NCI|N|
C4684407|A change in the nucleotide sequence of the MTOR gene that that results in constitutive activation of serine/threonine-protein kinase mTOR and its downstream signaling pathways.|NCI|N|
C4684409|A semi-quantitative microscopic finding indicating that 5 percent or more of the nucleated cells in a bone marrow sample are immature mononuclear cells of lymphoid origin.|NCI|N|
C4684410|A finding indicating elevated concentrations of the tumor antigen CA-125 in a blood serum sample.|NCI|N|
C4684412|A blood concentration of prostate specific antigen between 10 ng/mL and 15 ng/mL.|NCI|N|
C4684413|A microscopic finding indicating that 10 percent of the nucleated cells in a bone marrow sample are neoplastic plasma cells.|NCI|N|
C4684415|A blood concentration of prostate specific antigen less than 0.2 ng/mL.|NCI|N|
C4684417|A microscopic finding indicating that more than 5 percent of the nucleated cells in a peripheral leukocyte sample are neoplastic plasma cells.|NCI|N|
C4684418|A semi-quantitative microscopic finding indicating that at most 10 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.|NCI|N|
C4684420|A change in the nucleotide sequence of the AKT1 gene that that results in constitutive activation of RAC-alpha serine/threonine-protein kinase and its downstream signaling pathways.|NCI|N|
C4684421|A change in the nucleotide sequence of the PIK3CA gene that that results in constitutive activation of phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform and its downstream signaling pathways.|NCI|N|
C4684422|A change in the nucleotide sequence of the PIK3R1 gene that that results in constitutive activation of phosphatidylinositol 3-kinase regulatory subunit alpha and its downstream signaling pathways.|NCI|N|
C4684423|A change in the nucleotide sequence of the PIK3R2 gene that that results in constitutive activation of phosphatidylinositol 3-kinase regulatory subunit beta and its downstream signaling pathways.|NCI|N|
C4684425|The presence of mutations in both alleles of the BRCA1 gene that either lead to loss of expression of the BRCA1 protein or result in the translation of an inactive BRCA1 protein.|NCI|N|
C4684426|The presence of mutations in both alleles of the BRCA2 gene that either lead to loss of expression of the BRCA2 protein or result in the translation of an inactive BRCA2 protein.|NCI|N|
C4684429|A mutation in the EZH2 gene that leads to increased histone-lysine N-methyltransferase EZH2 activity.|NCI|N|
C4684430|A change in the nucleotide sequence of the SMARCA4 gene.|NCI|N|
C4684432|A blood concentration of prostate specific antigen less than 30 ng/mL.|NCI|N|
C4684433|A blood concentration of prostate specific antigen less than or equal to 30 ng/mL.|NCI|N|
C4684435|A finding indicating an increased presence of residual disease over time.|NCI|N|
C4684442|A grouping of lymph nodes comprising neck lymph node boundary levels I-IV.|NCI|N|
C4684443|A grouping of lymph nodes comprising neck lymph node boundary levels II-IV.|NCI|N|
C4684448|The ability of localized radiation to trigger systemic antitumor effects.|NCI|N|
C4684469|The subject, who met eligibility criteria, was assigned to an arm but was not treated.|NCI|N|
C4684470|The subject, who met eligibility criteria, was assigned to an arm but received treatment not associated with any of the planned arms.|NCI|N|
C4684473|A description of the likely cause of the pathology responsible for the cardiac valve stenosis.|NCI|N|
C4684474|An electrocardiographic finding of an ectopic impulse originating from the atria or atrioventricular junction for which the site of origin cannot be determined from the surface electrocardiographic recording; there may be one or more occurrences during an electrocardiographic recording.|NCI|N|
C4684541|The base-10 logarithm of the minimum angle of resolution achieved by an individual during testing.|NCI|N|
C4684542|The minimum distance from the retina that an object remains in clear focus.|NCI|N|
C4684543|The number of letters read by the subject during an eye chart assessment.|NCI|N|
C4684544|The number of letters not able to be read by the subject during an eye chart assessment.|NCI|N|
C4684545|The number of lines not able to be read by the subject during an eye chart assessment.|NCI|N|
C4684546|Radiographic progression which has been confirmed by additional imaging showing worsening of initial progression.|NCI|N|
C4684547|Apparent radiographic progression which requires confirmation, per criteria, with additional imaging.|NCI|N|
C4684548|Persistence of one or more non-target lesion(s) without unequivocal progression following an initial apparent radiographic progression.|NCI|N|
C4684553|A congenital benign neoplasm of the kidney characterized by the presence of interlacing bundles of homogenous spindle cells with small basophilic nuclei and scant eosinophilic cytoplasm.|NCI|N|
C4684579|Therapeutic responses that continue beyond cessation of treatment, and sometimes, beyond a pharmaceutical product''s established biological action.|NCI|N|
C4684607|An assessment from a qualified medical professional based on examination of a subject''s health status.|NCI|N|
C4684644|A completion status in which a document has been signed manually or electronically by the individual who is legally responsible for that document. (HL7)|NCI|N|
C4684662|Patients who meet a clinical trial''s inclusion criteria for safety analysis and efficacy evaluation.|NCI|N|
C4684714|Required or expected data that is not present, which may be due to non-completion or corruption.|NCI|N|
C4684720|Ayn measurement that is not subject to observer assessment, such as those registered by an instrument.|NCI|N|
C4684722|A clinical outcome assessment that is reported by someone other than the patient or a healthcare professional.|NCI|N|
C4684723|An indication that a study is able to add subjects.|NCI|N|
C4684731|A clinical outcome assessment in which a task is performed by a subject under the administration of a healthcare professional.|NCI|N|
C4684745|A clinical outcome assessment that is reported by someone other than the patient as if he or she is the patient.|NCI|N|
C4684759|Risk that remains after risk control measures have been taken.|NCI|N|
C4684772|A noxious and unintended response to a medicinal product occurring at any dose that results in death, is life-threatening, requires inpatient hospitalization or prolongation of existing hospitalization, results in a persistent or significant disability/incapacity, or results in a congenital anomaly/birth defect.|NCI|N|
C4684790|The study subject is/was enrolled.|NCI|N|
C4684793|The physical and mental integrity of the individuals participating in a clinical study. (ICH)|NCI|N|
C4684800|A situation that emerges during treatment, having been absent pretreatment, or worsens relative to the pretreatment state. (ICH)|NCI|N|
C4684805|The discontinuation of a clinical trial prior to the planned end date.|NCI|N|
C4684809|A serious adverse drug experience that is not listed in the labeling of a drug, or that may be symptomatically or pathophysiologically related to an adverse drug experience identified in the labeling, but differs because of greater severity, specificity, or prevalence. [505-1(b) of FD&C Act (21 USC. 355-1(b)|NCI|N|
C4684820|A highly aggressive, poorly differentiated carcinoma that arises from the thoracic structures. It is characterized by mutations and rearrangement of the NUT gene. It usually presents at an advanced stage with pleuritic chest pain and pleural effusion, non-productive cough, shortness of breath, and weigh loss.|NCI|N|
C4684821|A lung tumor that arises from perivascular epithelioid cells (PECs).|NCI|N|
C4684822|A benign lung tumor that arises from perivascular epithelioid cells (PECs).|NCI|N|
C4684823|A malignant lung tumor that arises from perivascular epithelioid cells (PECs).|NCI|N|
C4684831|Pancreatic carcinoma that does not respond to treatment.|NCI|N|
C4684833|The reemergence of B acute lymphoblastic leukemia after a period of remission.|NCI|N|
C4684834|B-acute lymphoblastic leukemia that does not respond to treatment.|NCI|N|
C4684839|A target lesion that has been identified by computed tomography perfusion imaging.|NCI|N|
C4684845|A sarcoma arising from the arterial intima of pulmonary arteries.|NCI|N|
C4684847|A very rare benign lung tumor with myoepithelial differentiation.|NCI|N|
C4684859|A change in the nucleotide sequence of the CCND1 gene.|NCI|N|
C4684861|The reemergence of malignant glioma after a period of remission.|NCI|N|
C4684862|The reemergence of rhabdoid tumor after a period of remission.|NCI|N|
C4684863|Peripheral primitive neuroectodermal tumor that does not respond to treatment.|NCI|N|
C4684864|Rhabdomyosarcoma that does not respond to treatment.|NCI|N|
C4684865|A subtype of adrenoleukodystrophy (ALD) occurring in approximately 40 percent of boys with ALD, primarily affecting the cerebrum, resulting in rapidly declining neurocognitive function and in most patients, premature death.|NCI|N|
C4684866|Ewing sarcoma that does not respond to treatment.|NCI|N|
C4684867|Hepatoblastoma that does not respond to treatment.|NCI|N|
C4684868|Malignant glioma that does not respond to treatment.|NCI|N|
C4684869|Medulloblastoma that does not respond to treatment.|NCI|N|
C4684870|Osteosarcoma that does not respond to treatment.|NCI|N|
C4684871|Rhabdoid tumor that does not respond to treatment.|NCI|N|
C4684877|A microsatellite stable carcinoma that arises from the colon or rectum and has metastasized to other anatomic sites.|NCI|N|
C4684878|A microsatellite stable carcinoma that arises from the colon or rectum and has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C4684879|A carcinoma that arises from the intrahepatic or extrahepatic bile ducts and has metastasized to other anatomic sites.|NCI|N|
C4684880|A carcinoma that arises from the intrahepatic or extrahepatic bile ducts and has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C4684885|The reemergence of primary cutaneous lymphoma after a period of remission.|NCI|N|
C4684886|Primary cutaneous lymphoma that does not respond to treatment.|NCI|N|
C4684888|Alveolar rhabdomyosarcoma that does not respond to treatment.|NCI|N|
C4684889|The reemergence of alveolar rhabdomyosarcoma after a period of remission.|NCI|N|
C4684941|Lymphocyte-rich classic Hodgkin lymphoma that does not respond to treatment.|NCI|N|
C4684942|Thyroid gland carcinoma that does not respond to treatment.|NCI|N|
C4684948|The reemergence of squamous cell carcinoma of the skin after a period of remission.|NCI|N|
C4684949|Progressive, symptomatic neurofibromatosis type 1 associated with plexiform neurofibromas that cannot be removed surgically without risk of substantial morbidity.|NCI|N|
C4684950|Disease state in which the surgical removal of a tumor is not feasible or useful.|NCI|N|
C4684958|Clinical TNM staging performed following systemic therapy or radiation.|NCI|N|
C4684967|A semi-quantitative microscopic finding indicating that less than 15 percent of the nucleated cells in a peripheral leukocyte sample are immature mononuclear cells.|NCI|N|
C4684968|A semi-quantitative microscopic finding indicating that less than 15 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.|NCI|N|
C4684974|A response indicating that an individual expects to, or is expected to, live longer than six months.|NCI|N|
C4685006|Asymptomatic; clinical or diagnostic observations only; intervention not indicated|NCI|N|
C4685007|Mild pain|NCI|N|
C4685008|Asymptomatic; clinical or diagnostic observations only; intervention not indicated|NCI|N|
C4685009|Asymptomatic; clinical or diagnostic observations only; intervention not indicated|NCI|N|
C4685010|pH <normal, but >=7.3|NCI|N|
C4685011|Asymptomatic; clinical or diagnostic observations only; intervention not indicated|NCI|N|
C4685012|>ULN-1.5 x ULN|NCI|N|
C4685013|Mild restlessness or increased motor activity|NCI|N|
C4685014|>ULN-3.0 x ULN if baseline was normal; 1.5-3.0 x baseline if baseline was abnormal|NCI|N|
C4685015|>ULN-2.5 x ULN if baseline was normal; 2.0-2.5 x baseline if baseline was abnormal|NCI|N|
C4685016|pH >normal, but <=7.5|NCI|N|
C4685017|Systemic intervention not indicated|NCI|N|
C4685018|Mild symptoms; intervention not indicated|NCI|N|
C4685019|Mild; transient memory loss|NCI|N|
C4685020|Asymptomatic|NCI|N|
C4685021|Asymptomatic|NCI|N|
C4685022|Mild symptoms; intervention not indicated|NCI|N|
C4685023|Asymptomatic or mild symptoms; intervention not indicated|NCI|N|
C4685024|Mild pain|NCI|N|
C4685025|Asymptomatic; clinical or diagnostic observations only; intervention not indicated|NCI|N|
C4685026|Asymptomatic; clinical or diagnostic observations only; intervention not indicated|NCI|N|
C4685027|Hemoglobin (Hgb) <LLN-10.0 g/dL; <LLN-6.2 mmol/L; <LLN-100 g/L|NCI|N|
C4685028|Localized, local intervention indicated|NCI|N|
C4685029|Inability to achieve orgasm not adversely affecting relationship|NCI|N|
C4685030|Present|NCI|N|
C4685031|Asymptomatic valvular thickening with or without mild valvular regurgitation or stenosis by imaging|NCI|N|
C4685032|Mild symptoms|NCI|N|
C4685033|Asymptomatic diagnostic finding; intervention not indicated|NCI|N|
C4685034|Mild pain|NCI|N|
C4685035|Mild pain with inflammation, erythema, or joint swelling|NCI|N|
C4685036|Asymptomatic; clinical or diagnostic observations only; intervention not indicated|NCI|N|
C4685037|>ULN-3.0 x ULN if baseline was normal; 1.5-3.0 x baseline if baseline was abnormal|NCI|N|
C4685038|Asymptomatic, intervention not indicated|NCI|N|
C4685039|Asymptomatic; serologic or other evidence of autoimmune reaction, with normal organ function; intervention not indicated|NCI|N|
C4685040|Asymptomatic; clinical or diagnostic observations only; intervention not indicated|NCI|N|
C4685041|Increase from baseline|NCI|N|
C4685042|Asymptomatic; clinical or diagnostic observations only; intervention not indicated|NCI|N|
C4685043|Asymptomatic diagnostic finding; intervention not indicated|NCI|N|
C4685044|Asymptomatic diagnostic finding; intervention not indicated|NCI|N|
C4685045|Asymptomatic or mild symptoms; clinical or diagnostic observations only; intervention not indicated|NCI|N|
C4685046|Asymptomatic; clinical or diagnostic observations only; intervention not indicated|NCI|N|
C4685047|<LLN and no intervention initiated|NCI|N|
C4685048|>ULN-1.5 x ULN if baseline was normal; > 1.0-1.5 x baseline if baseline was abnormal|NCI|N|
C4685049|Asymptomatic; clinical or diagnostic observations only; intervention not indicated|NCI|N|
C4685050|Asymptomatic; clinical or diagnostic observations only; intervention not indicated|NCI|N|
C4685051|>ULN|NCI|N|
C4685052|Asymptomatic; clinical or diagnostic observations only; intervention not indicated|NCI|N|
C4685053|Mild odor; physician intervention not indicated; self care interventions|NCI|N|
C4685054|Mildly hypocellular or <=25% reduction from normal cellularity for age|NCI|N|
C4685055|Minimal asymmetry; minimal atrophy|NCI|N|
C4685056|Asymptomatic|NCI|N|
C4685057|Asymptomatic; clinical or diagnostic observations only; intervention not indicated|NCI|N|
C4685058|Asymptomatic; clinical or diagnostic observations only; intervention not indicated|NCI|N|
C4685059|Asymptomatic|NCI|N|
C4685060|Mild symptoms; intervention not indicated|NCI|N|
C4685061|Mild symptoms; intervention not indicated|NCI|N|
C4685062|Localized or in a dependent area|NCI|N|
C4685063|Asymptomatic; blisters covering <10% BSA|NCI|N|
C4685064|Asymptomatic|NCI|N|
C4685065|3-5 units below LLN; for follow-up, a decrease of 3-5 units (ml/min/mm Hg) below the baseline value; asymptomatic and intervention not indicated|NCI|N|
C4685066|Asymptomatic or mild symptoms; clinical or diagnostic observations only; intervention not indicated|NCI|N|
C4685067|Levels above the upper limit of normal and below the level of myocardial infarction as defined by the manufacturer|NCI|N|
C4685068|Levels above the upper limit of normal and below the level of myocardial infarction as defined by the manufacturer|NCI|N|
C4685069|<LLN-500/mm3; <LLN-0.5 x 10e9/L|NCI|N|
C4685070|Mild symptoms; intervention not indicated|NCI|N|
C4685071|Asymptomatic; clinical or diagnostic observations only; intervention not indicated|NCI|N|
C4685072|Post-craniotomy: asymptomatic; Post-lumbar puncture: transient headache; postural care indicated|NCI|N|
C4685073|Mild pain|NCI|N|
C4685074|Mild sensation of cold; shivering; chattering of teeth|NCI|N|
C4685075|>ULN-300 mg/dL; >ULN-7.75 mmol/L|NCI|N|
C4685076|eGFR (estimated Glomerular Filtration Rate) or CrCl (creatinine clearance) <LLN-60 ml/min/1.73 m2 or proteinuria 2+ present; urine protein/creatinine >0.5|NCI|N|
C4685077|Asymptomatic; clinical or diagnostic observations only; intervention not indicated|NCI|N|
C4685078|Asymptomatic|NCI|N|
C4685079|Asymptomatic; clinical or diagnostic observations only; intervention not indicated|NCI|N|
C4685080|Asymptomatic; clinical or diagnostic observations only; intervention not indicated|NCI|N|
C4685081|Asymptomatic; clinical or diagnostic observations only; intervention not indicated|NCI|N|
C4685082|Mild inattention or decreased level of concentration|NCI|N|
C4685083|Mild symptoms; intervention not indicated|NCI|N|
C4685084|Asymptomatic or mild symptoms; clinical or diagnostic observations only; intervention not indicated|NCI|N|
C4685085|Asymptomatic or mild symptoms; intervention not indicated|NCI|N|
C4685086|>ULN-2.5 x ULN|NCI|N|
C4685087|>ULN-1.5 x ULN|NCI|N|
C4685088|Mild symptoms; intervention not indicated|NCI|N|
C4685089|Microscopic hematuria; minimal increase in frequency, urgency, dysuria, or nocturia; new onset of incontinence|NCI|N|
C4685090|Fever with or without constitutional symptoms|NCI|N|
C4685091|Asymptomatic or mild symptoms; clinical or diagnostic observations only; intervention not indicated|NCI|N|
C4685092|Delay in achieving orgasm not adversely affecting relationship|NCI|N|
C4685093|Mild acute confusional state|NCI|N|
C4685094|One or more dental caries, not involving the root|NCI|N|
C4685095|Decreased level of alertness|NCI|N|
C4685096|Faint erythema or dry desquamation|NCI|N|
C4685097|Asymptomatic; clinical or diagnostic observations only; symptoms relieved by lubricants|NCI|N|
C4685098|Symptomatic (e.g., dry or thick saliva) without significant dietary alteration; unstimulated saliva flow >0.2 ml/min|NCI|N|
C4685099|Mild symptoms; intervention not indicated|NCI|N|
C4685100|Asymptomatic; clinical or diagnostic observations only; intervention not indicated|NCI|N|
C4685101|Asymptomatic; clinical or diagnostic observations only; intervention not indicated|NCI|N|
C4685102|Asymptomatic; clinical or diagnostic observations only; intervention not indicated|NCI|N|
C4685103|Mild slurred speech|NCI|N|
C4685104|Altered taste but no change in diet|NCI|N|
C4685105|Mild symptoms; intervention not indicated|NCI|N|
C4685106|Mild discomfort or pain associated with vaginal penetration; discomfort relieved with use of vaginal lubricants or estrogen|NCI|N|
C4685107|Mild symptoms; intervention not indicated|NCI|N|
C4685108|Awareness of receptive or expressive characteristics; not impairing ability to communicate|NCI|N|
C4685109|Present|NCI|N|
C4685110|Asymptomatic or mild symptoms; clinical or diagnostic observations only; intervention not indicated|NCI|N|
C4685111|Mild pain|NCI|N|
C4685112|Asymptomatic or mild symptoms; additional medical intervention over baseline not indicated|NCI|N|
C4685113|Localized facial edema|NCI|N|
C4685114|5-10% inter-limb discrepancy in volume or circumference at point of greatest visible difference; swelling or obscuration of anatomic architecture on close inspection|NCI|N|
C4685115|Swelling or obscuration of anatomic architecture on close inspection|NCI|N|
C4685116|Diminished ejaculation|NCI|N|
C4685117|Average QTc 450-480 ms|NCI|N|
C4685118|T wave flattening|NCI|N|
C4685119|Mild symptoms|NCI|N|
C4685120|Asymptomatic or mild symptoms; clinical or diagnostic observations only; intervention not indicated|NCI|N|
C4685121|Asymptomatic; clinical or diagnostic observations only; intervention not indicated|NCI|N|
C4685122|>ULN and >Baseline|NCI|N|
C4685123|Mild symptoms; intervention not indicated|NCI|N|
C4685124|Asymptomatic or mild symptoms; clinical or diagnostic observations only; intervention not indicated|NCI|N|
C4685125|Target lesions covering <10% BSA and not associated with skin tenderness|NCI|N|
C4685126|Asymptomatic diagnostic finding; intervention not indicated|NCI|N|
C4685127|Mild symptoms; intervention not indicated|NCI|N|
C4685128|Asymptomatic; clinical or diagnostic observations only; intervention not indicated|NCI|N|
C4685129|Mild pain|NCI|N|
C4685130|Asymptomatic; clinical or diagnostic observations only; intervention not indicated|NCI|N|
C4685131|Asymptomatic; clinical or diagnostic observations only; intervention not indicated|NCI|N|
C4685132|Asymptomatic; clinical or diagnostic observations only|NCI|N|
C4685133|Mild involuntary movements|NCI|N|
C4685134|Asymptomatic or mild symptoms; clinical or diagnostic observations only; intervention not indicated; no change in vision|NCI|N|
C4685135|Asymptomatic; clinical or diagnostic observations only; intervention not indicated|NCI|N|
C4685136|Asymptomatic; clinical or diagnostic observations only; intervention not indicated|NCI|N|
C4685137|Asymptomatic; clinical or diagnostic observations only; intervention not indicated|NCI|N|
C4685138|Mild pain|NCI|N|
C4685139|Minor with no resultant injuries; intervention not indicated|NCI|N|
C4685140|Asymptomatic; clinical or diagnostic observations only; intervention not indicated|NCI|N|
C4685141|Covering <10% BSA and asymptomatic|NCI|N|
C4685142|Occasional use of pads required|NCI|N|
C4685143|Mild symptoms; intervention not indicated|NCI|N|
C4685144|38.0-39.0 degrees C (100.4-102.2 degrees F)|NCI|N|
C4685145|<1.0-0.75 x LLN; if abnormal, <25% decrease from baseline|NCI|N|
C4685146|Mild induration, able to move skin parallel to plane (sliding) and perpendicular to skin (pinching up)|NCI|N|
C4685147|Mild pain|NCI|N|
C4685148|Symptomatic but not limiting ADL|NCI|N|
C4685149|Symptomatic but not limiting ADL|NCI|N|
C4685150|Mild flu-like symptoms present|NCI|N|
C4685151|Covering <10% of the body surface area; no intervention indicated|NCI|N|
C4685152|FEV1% (percentages of observed FEV1 and FVC related to their respective predicted values) 99-70% predicted|NCI|N|
C4685153|Mild change in gait (e.g., wide-based, limping or hobbling)|NCI|N|
C4685154|Asymptomatic|NCI|N|
C4685155|Mild symptoms; intervention not indicated|NCI|N|
C4685156|Asymptomatic; clinical or diagnostic observations only; intervention not indicated|NCI|N|
C4685157|Asymptomatic; clinical or diagnostic observations only; intervention not indicated|NCI|N|
C4685158|Mild symptoms; intervention not indicated|NCI|N|
C4685159|Asymptomatic diagnostic finding; intervention not indicated|NCI|N|
C4685160|Asymptomatic or mild symptoms; clinical or diagnostic observations only; intervention not indicated|NCI|N|
C4685161|Asymptomatic|NCI|N|
C4685162|Mild pain|NCI|N|
C4685163|Mild nausea, early satiety and bloating, able to maintain caloric intake on regular diet|NCI|N|
C4685164|Asymptomatic or mild symptoms; clinical or diagnostic observations only; intervention not indicated|NCI|N|
C4685165|Noted on exam; 1+ pitting edema|NCI|N|
C4685166|Symptomatic; perceived by patient but not evident on physical exam|NCI|N|
C4685167|Mild swelling or obscuration of anatomic architecture on close inspection|NCI|N|
C4685168|>ULN-2.5 x ULN if baseline was normal; 2.0-2.5 x baseline if baseline was abnormal|NCI|N|
C4685169|Mild pain|NCI|N|
C4685170|Asymptomatic; clinical or diagnostic observations only; intervention not indicated|NCI|N|
C4685171|Asymptomatic; clinical or diagnostic observations only; intervention not indicated|NCI|N|
C4685172|Present|NCI|N|
C4685173|Asymptomatic; clinical or diagnostic observations only; intervention not indicated|NCI|N|
C4685174|Reduction in growth velocity by 10-29% ideally measured over the period of a year|NCI|N|
C4685175|Mild symptoms|NCI|N|
C4685176|Local therapy indicated (swish and swallow)|NCI|N|
C4685177|Asymptomatic|NCI|N|
C4685178|Present|NCI|N|
C4685179|Present|NCI|N|
C4685180|<LLN|NCI|N|
C4685181|Mild pain|NCI|N|
C4685182|Adults enrolled on a Monitoring Program (on a 1, 2, 4, 3, 6, and 8 kHz audiogram): Threshold shift of 15-25 dB averaged at 2 contiguous test frequencies in at least one ear; Adults not enrolled on a Monitoring Program: Subjective change in hearing in the absence of documented hearing loss; Pediatric (on a 1, 2, 3, 4, 6, and 8 kHz audiogram): Threshold shift >20 dB hearing loss (HL) (i.e., 25 dB HL or greater); sensorineural hearing loss (SNHL) above 4 kHz (i.e., 6 or 8 kHz) in at least one ear|NCI|N|
C4685183|Asymptomatic with laboratory (e.g., BNP [B-Natriuretic Peptide ]) or cardiac imaging abnormalities|NCI|N|
C4685184|Minimal bleeding identified on imaging study or laparoscopy; intervention not indicated|NCI|N|
C4685185|Asymptomatic; clinical or diagnostic observations only; intervention not indicated|NCI|N|
C4685186|Increase in >0-2 g/dL|NCI|N|
C4685187|Mild symptoms; intervention not indicated|NCI|N|
C4685188|Mild symptoms; intervention not indicated|NCI|N|
C4685189|Mild pain|NCI|N|
C4685190|Asymptomatic or mild symptoms; clinical or diagnostic observations only; intervention not indicated|NCI|N|
C4685191|Asymptomatic, intervention not indicated|NCI|N|
C4685192|Asymptomatic or mild symptoms; clinical or diagnostic observations only; intervention not indicated|NCI|N|
C4685193|Asymptomatic or mild symptoms; clinical or diagnostic observations only; intervention not indicated|NCI|N|
C4685194|Mild symptoms; intervention not indicated|NCI|N|
C4685195|In women, increase in length, thickness or density of hair in a male distribution that the patient is able to camouflage by periodic shaving, bleaching, or removal of hair|NCI|N|
C4685196|Mild or intermittent voice change; fully understandable; self-resolves|NCI|N|
C4685197|Mild symptoms; intervention not indicated|NCI|N|
C4685198|Abnormal glucose above baseline with no medical intervention|NCI|N|
C4685199|Limited to one site (palms, soles, or axillae); self care interventions|NCI|N|
C4685200|>ULN-5.5 mmol/L|NCI|N|
C4685201|Present|NCI|N|
C4685202|Requiring diet changes|NCI|N|
C4685203|>ULN-3.0 mg/dL; >ULN-1.23 mmol/L|NCI|N|
C4685204|>ULN-150 mmol/L|NCI|N|
C4685205|Mild symptoms; intervention not indicated|NCI|N|
C4685206|Laboratory finding only and intervention not indicated|NCI|N|
C4685207|Mild increased need for sleep|NCI|N|
C4685208|Asymptomatic; clinical or diagnostic observations only; intervention not indicated|NCI|N|
C4685209|Increase in length, thickness or density of hair that the patient is either able to camouflage by periodic shaving or removal of hairs or is not concerned enough about the overgrowth to use any form of hair removal|NCI|N|
C4685210|150 mg/dL-300 mg/dL; 1.71 mmol/L-3.42 mmol/L|NCI|N|
C4685211|>ULN without physiologic consequences|NCI|N|
C4685212|<LLN-3 g/dL; <LLN-30 g/L|NCI|N|
C4685213|Corrected serum calcium of <LLN-8.0 mg/dL; <LLN-2.0 mmol/L; Ionized calcium <LLN-1.0 mmol/L|NCI|N|
C4685214|Asymptomatic; clinical or diagnostic observations only; intervention not indicated|NCI|N|
C4685215|<LLN-55 mg/dL; <LLN-3.0 mmol/L|NCI|N|
C4685216|<LLN-3.0 mmol/L|NCI|N|
C4685217|<LLN-1.2 mg/dL; <LLN-0.5 mmol/L|NCI|N|
C4685218|<LLN-130 mmol/L|NCI|N|
C4685219|Asymptomatic; clinical or diagnostic observations only; intervention not indicated|NCI|N|
C4685220|Laboratory finding only and intervention not indicated|NCI|N|
C4685221|Asymptomatic or mild symptoms; clinical or diagnostic observations only; intervention not indicated|NCI|N|
C4685222|Asymptomatic or mild symptoms; clinical or diagnostic observations only; intervention not indicated|NCI|N|
C4685223|Asymptomatic; clinical or diagnostic observations only; intervention not indicated|NCI|N|
C4685224|Asymptomatic or mild symptoms; clinical or diagnostic observations only; intervention not indicated|NCI|N|
C4685225|Asymptomatic or mild symptoms; clinical or diagnostic observations only; intervention not indicated|NCI|N|
C4685226|Mild transient reaction; infusion interruption not indicated; intervention not indicated|NCI|N|
C4685227|Painless edema|NCI|N|
C4685228|Tenderness with or without associated symptoms (e.g., warmth, erythema, itching)|NCI|N|
C4685229|Asymptomatic diagnostic finding; intervention not indicated|NCI|N|
C4685230|Asymptomatic or mild symptoms; clinical or diagnostic observations only; intervention not indicated|NCI|N|
C4685231|>1.2-1.5; >1-1.5 x baseline if on anticoagulation; monitoring only indicated|NCI|N|
C4685232|Asymptomatic diagnostic finding; intervention not indicated|NCI|N|
C4685233|Minimal bleeding identified on clinical exam; intervention not indicated|NCI|N|
C4685234|Asymptomatic; clinical or diagnostic observations only; intervention not indicated|NCI|N|
C4685235|Primary repair of injured organ/structure indicated|NCI|N|
C4685236|Primary repair of injured organ/structure indicated|NCI|N|
C4685237|Primary repair of injured organ/structure indicated|NCI|N|
C4685238|Primary repair of injured organ/structure indicated|NCI|N|
C4685239|Primary repair of injured organ/structure indicated|NCI|N|
C4685240|Primary repair of injured organ/structure indicated|NCI|N|
C4685241|Primary repair of injured organ/structure indicated|NCI|N|
C4685242|Primary repair of injured organ/structure indicated|NCI|N|
C4685243|Primary repair of injured organ/structure indicated|NCI|N|
C4685244|Primary repair of injured organ/structure indicated|NCI|N|
C4685245|Primary repair of injured organ/structure indicated|NCI|N|
C4685246|Primary repair of injured organ/structure indicated|NCI|N|
C4685247|Primary repair of injured organ/structure indicated|NCI|N|
C4685248|Primary repair of injured organ/structure indicated|NCI|N|
C4685249|Asymptomatic or mild symptoms; clinical or diagnostic observations only; intervention not indicated|NCI|N|
C4685250|Intermittent/irregular menses for no more than 3 consecutive menstrual cycles|NCI|N|
C4685251|Mild; easily consolable|NCI|N|
C4685252|Asymptomatic; clinical or diagnostic observations only; intervention not indicated|NCI|N|
C4685253|Asymptomatic; clinical or diagnostic observations only; intervention not indicated|NCI|N|
C4685254|Mild restriction of rotation or flexion between 60-70 degrees|NCI|N|
C4685255|Stiffness; difficulty bending to the floor to pick up a very light object but able to do athletic activity|NCI|N|
C4685256|<=25% loss of ROM (range of motion); decreased ROM limiting athletic activity|NCI|N|
C4685257|Asymptomatic diagnostic finding; intervention not indicated|NCI|N|
C4685258|Asymptomatic; clinical or diagnostic observations only; intervention not indicated|NCI|N|
C4685259|Mild changes in lactation, not significantly affecting production or expression of breast milk|NCI|N|
C4685260|Asymptomatic diagnostic finding; intervention not indicated|NCI|N|
C4685261|Asymptomatic; clinical or diagnostic observations only; intervention not indicated|NCI|N|
C4685262|Mild sore throat; raspy voice|NCI|N|
C4685263|Endoscopic findings only; mild discomfort with normal intake|NCI|N|
C4685264|Asymptomatic; clinical or diagnostic observations only; intervention not indicated|NCI|N|
C4685265|Asymptomatic; clinical or diagnostic observations only; intervention not indicated|NCI|N|
C4685266|Mild symptoms; no anxiety; intervention not indicated|NCI|N|
C4685267|Mild symptoms; reduced alertness and awareness|NCI|N|
C4685268|Asymptomatic; small focal T2/FLAIR hyperintensities; involving periventricular white matter or <1/3 of susceptible areas of cerebrum +/- mild increase in subarachnoid space (SAS) and/or mild ventriculomegaly|NCI|N|
C4685269|Present|NCI|N|
C4685270|Localized, local intervention indicated|NCI|N|
C4685271|>ULN-1.5 x ULN|NCI|N|
C4685272|Asymptomatic and covering <10% BSA|NCI|N|
C4685273|Localized to dependent areas, no disability or functional impairment|NCI|N|
C4685274|Asymptomatic; clinical or diagnostic observations only; intervention not indicated|NCI|N|
C4685275|Mild symptoms; intervention not indicated|NCI|N|
C4685276|Trace thickening or faint discoloration|NCI|N|
C4685277|<LLN-800/mm3; <LLN-0.8 x 10e9/L|NCI|N|
C4685278|Uneasiness or lack of well being|NCI|N|
C4685279|Mild manic symptoms (e.g., elevated mood, rapid thoughts, rapid speech, decreased need for sleep)|NCI|N|
C4685280|Mild symptoms|NCI|N|
C4685281|Mild; iron supplements indicated|NCI|N|
C4685282|Asymptomatic or mild symptoms; clinical or diagnostic observations only; intervention not indicated|NCI|N|
C4685283|Serous otitis|NCI|N|
C4685284|Asymptomatic valvular thickening with or without mild valvular regurgitation or stenosis by imaging|NCI|N|
C4685285|Mild symptoms|NCI|N|
C4685286|Localized, local intervention indicated|NCI|N|
C4685287|Asymptomatic or mild symptoms; intervention not indicated|NCI|N|
C4685288|Mild pain|NCI|N|
C4685289|Symptomatic; perceived by patient but not evident on physical exam|NCI|N|
C4685290|Symptomatic; perceived by patient but not evident on physical exam|NCI|N|
C4685291|Symptomatic; perceived by patient but not evident on physical exam|NCI|N|
C4685292|Symptomatic; perceived by patient but not evident on physical exam|NCI|N|
C4685293|Symptomatic; perceived by patient but not evident on physical exam|NCI|N|
C4685294|Asymptomatic or mild symptoms; clinical or diagnostic observations only; intervention not indicated|NCI|N|
C4685295|Cosmetically and functionally insignificant hypoplasia|NCI|N|
C4685296|Mild pain|NCI|N|
C4685297|Asymptomatic or mild symptoms; clinical or diagnostic observations only; intervention not indicated|NCI|N|
C4685298|Asymptomatic; clinical or diagnostic observations only|NCI|N|
C4685299|Localized, local intervention indicated|NCI|N|
C4685300|Asymptomatic separation of the nail bed from the nail plate or nail loss|NCI|N|
C4685301|Asymptomatic; clinical or diagnostic observations only; intervention not indicated|NCI|N|
C4685302|Mild symptoms; intervention not indicated|NCI|N|
C4685303|Asymptomatic localized neck edema|NCI|N|
C4685304|Asymptomatic or mild symptoms; clinical or diagnostic observations only; intervention not indicated|NCI|N|
C4685305|Asymptomatic or mild symptoms; clinical or diagnostic observations only; intervention not indicated|NCI|N|
C4685306|Mild pain|NCI|N|
C4685307|<LLN-1500/mm3; <LLN-1.5 x 10e9/L|NCI|N|
C4685308|Symptomatic but not limiting ADL|NCI|N|
C4685309|Asymptomatic; asymmetry with slight retraction and/or thickening of the nipple areolar complex|NCI|N|
C4685310|Mild pain|NCI|N|
C4685311|Asymptomatic; clinical or diagnostic observations only; intervention not indicated|NCI|N|
C4685312|Asymptomatic; clinical or diagnostic observations only; intervention not indicated|NCI|N|
C4685313|Sperm concentration > 0 to < 15 million/ml|NCI|N|
C4685314|Asymptomatic; clinical or diagnostic observations only|NCI|N|
C4685315|Asymptomatic|NCI|N|
C4685316|Mild discomfort; not interfering with oral intake|NCI|N|
C4685317|Mild pain|NCI|N|
C4685318|Asymptomatic; clinical or diagnostic observations only; intervention not indicated|NCI|N|
C4685319|Asymptomatic; clinical or diagnostic observations only; intervention not indicated|NCI|N|
C4685320|Localized, local intervention indicated|NCI|N|
C4685321|Asymptomatic clinical or diagnostic observations only; intervention not indicated|NCI|N|
C4685322|Mild pain|NCI|N|
C4685323|Mild pain|NCI|N|
C4685324|Minimal skin changes or dermatitis (e.g., erythema, edema, or hyperkeratosis) without pain|NCI|N|
C4685325|Asymptomatic diagnostic finding; intervention not indicated|NCI|N|
C4685326|Asymptomatic; clinical or diagnostic observations only; intervention not indicated|NCI|N|
C4685327|<LLN and asymptomatic|NCI|N|
C4685328|Asymptomatic; no visual field deficit|NCI|N|
C4685329|Papules and/or pustules covering <10% BSA, which may or may not be associated with symptoms of pruritus or tenderness|NCI|N|
C4685330|Mild symptoms|NCI|N|
C4685331|Nail fold edema or erythema; disruption of the cuticle|NCI|N|
C4685332|Asymptomatic, intervention not indicated|NCI|N|
C4685333|Asymptomatic; clinical or diagnostic observations only; intervention not indicated|NCI|N|
C4685334|Mild pain|NCI|N|
C4685335|Localized, local intervention indicated|NCI|N|
C4685336|Mild pain|NCI|N|
C4685337|Soft or non-pitting|NCI|N|
C4685338|Asymptomatic; clinical or diagnostic observations only|NCI|N|
C4685339|Asymptomatic|NCI|N|
C4685340|Mild personality change|NCI|N|
C4685341|Mild pain|NCI|N|
C4685342|Asymptomatic diagnostic finding; intervention not indicated|NCI|N|
C4685343|Endoscopic findings only; minimal symptoms with normal oral intake; mild pain but analgesics not indicated|NCI|N|
C4685344|Asymptomatic; clinical or diagnostic observations only; intervention not indicated|NCI|N|
C4685345|Mild pain|NCI|N|
C4685346|Localized, local intervention indicated|NCI|N|
C4685347|<LLN-75,000/mm3; <LLN-75.0 x 10e9/L|NCI|N|
C4685348|Asymptomatic; clinical or diagnostic observations only; intervention not indicated|NCI|N|
C4685349|Mild pain|NCI|N|
C4685350|Asymptomatic; clinical or diagnostic observations only; intervention not indicated|NCI|N|
C4685351|Mild symptoms; intervention not indicated|NCI|N|
C4685352|Mild symptoms; intervention not indicated|NCI|N|
C4685353|Physical signs of puberty with no biochemical markers for females <8 years and males <9 years|NCI|N|
C4685354|Asymptomatic or mild symptoms; clinical or diagnostic observations only; intervention not indicated|NCI|N|
C4685355|Delivery of a liveborn infant at >34 to 37 weeks gestation|NCI|N|
C4685356|Occasional/minimal production of sputum with cough|NCI|N|
C4685357|Asymptomatic; reducible|NCI|N|
C4685358|Asymptomatic; clinical or diagnostic observations only; intervention not indicated|NCI|N|
C4685359|Mild pain|NCI|N|
C4685360|Asymptomatic or mild symptoms; clinical or diagnostic observations only; intervention not indicated|NCI|N|
C4685361|Mild psychotic symptoms|NCI|N|
C4685362|Radiologic findings only; minimal dyspnea on exertion|NCI|N|
C4685363|Radiologic pulmonary fibrosis <25% of lung volume associated with hypoxia|NCI|N|
C4685364|Asymptomatic|NCI|N|
C4685365|Asymptomatic valvular thickening with or without mild valvular regurgitation or stenosis by imaging|NCI|N|
C4685366|Combined area of lesions covering <10% BSA|NCI|N|
C4685367|Asymptomatic; clinical or diagnostic observations only; intervention not indicated|NCI|N|
C4685368|Faint erythema or dry desquamation|NCI|N|
C4685369|Mild symptoms|NCI|N|
C4685370|Papules and/or pustules covering <10% BSA, which may or may not be associated with symptoms of pruritus or tenderness|NCI|N|
C4685371|Macules/papules covering <10% BSA with or without symptoms (e.g., pruritus, burning, tightness)|NCI|N|
C4685372|Asymptomatic diagnostic finding; intervention not indicated|NCI|N|
C4685373|Asymptomatic|NCI|N|
C4685374|Asymptomatic or mild symptoms; intervention not indicated|NCI|N|
C4685375|Mild pain|NCI|N|
C4685376|Asymptomatic; clinical or diagnostic observations only; intervention not indicated|NCI|N|
C4685377|Asymptomatic; clinical or diagnostic observations only; intervention not indicated|NCI|N|
C4685378|Asymptomatic or mild symptoms; clinical or diagnostic observations only; intervention not indicated|NCI|N|
C4685379|Asymptomatic or mild symptoms; occasional use of nonprescription analgesics indicated|NCI|N|
C4685380|Mild pain not interfering with activity; nonprescription medication indicated|NCI|N|
C4685381|Asymptomatic or mild symptoms; clinical or diagnostic observations only; intervention not indicated|NCI|N|
C4685382|Asymptomatic or mild symptoms; clinical or diagnostic observations only; intervention not indicated|NCI|N|
C4685383|Mild symptoms; intervention not indicated|NCI|N|
C4685384|No retinal detachment and treatment not indicated|NCI|N|
C4685385|Asymptomatic, intervention not indicated; laboratory findings only|NCI|N|
C4685386|Present|NCI|N|
C4685387|Asymptomatic or mild symptoms; clinical or diagnostic observations only; intervention not indicated|NCI|N|
C4685388|Slightly thickened saliva; slightly altered taste (e.g., metallic)|NCI|N|
C4685389|No change in vision from baseline|NCI|N|
C4685390|<20 degrees; clinically undetectable|NCI|N|
C4685391|Localized, local intervention indicated|NCI|N|
C4685392|Mild pain|NCI|N|
C4685393|Brief partial seizure and no loss of consciousness|NCI|N|
C4685394|>ULN-1.5 x ULN|NCI|N|
C4685395|Asymptomatic; clinical or diagnostic observations only; intervention not indicated|NCI|N|
C4685396|Localized, local intervention indicated|NCI|N|
C4685397|Asymptomatic mucosal crusting; blood-tinged secretions|NCI|N|
C4685398|Asymptomatic or mild symptoms; clinical or diagnostic observations only; intervention not indicated|NCI|N|
C4685399|Hyperpigmentation covering <10% BSA; no psychosocial impact|NCI|N|
C4685400|Hypopigmentation or depigmentation covering <10% BSA; no psychosocial impact|NCI|N|
C4685401|Mild induration, able to move skin parallel to plane (sliding) and perpendicular to skin (pinching up)|NCI|N|
C4685402|Localized, local intervention indicated|NCI|N|
C4685403|Asymptomatic; intervention not indicated|NCI|N|
C4685404|Snoring and nocturnal sleep arousal without apneic periods|NCI|N|
C4685405|Asymptomatic diagnostic finding; intervention not indicated|NCI|N|
C4685406|Asymptomatic or mild symptoms; intervention not indicated|NCI|N|
C4685407|Asymptomatic; clinical or diagnostic observations only; intervention not indicated|NCI|N|
C4685408|Asymptomatic; clinical or diagnostic observations only; intervention not indicated|NCI|N|
C4685409|Asymptomatic; clinical or diagnostic observations only; intervention not indicated|NCI|N|
C4685410|Mild symptoms; intervention not indicated|NCI|N|
C4685411|Asymptomatic or mild symptoms; clinical or diagnostic observations only; intervention not indicated|NCI|N|
C4685412|Mild but more than usual drowsiness or sleepiness|NCI|N|
C4685413|Mild pain|NCI|N|
C4685414|Mild or slight increase in muscle tone|NCI|N|
C4685415|Asymptomatic diagnostic finding; intervention not indicated|NCI|N|
C4685416|Mild back pain; nonprescription analgesics indicated|NCI|N|
C4685417|Localized, local intervention indicated|NCI|N|
C4685418|Asymptomatic; clinical or diagnostic observations only; intervention not indicated|NCI|N|
C4685419|Incidental radiographic findings only|NCI|N|
C4685420|Asymptomatic or mild symptoms; clinical or diagnostic observations only; intervention not indicated|NCI|N|
C4685421|Increased thoughts of death but no wish to kill oneself|NCI|N|
C4685422|Mild induration, able to move skin parallel to plane (sliding) and perpendicular to skin (pinching up)|NCI|N|
C4685423|Asymptomatic; incidental finding of SVC thrombosis|NCI|N|
C4685424|Asymptomatic or mild symptoms; clinical or diagnostic observations only; intervention not indicated|NCI|N|
C4685425|Ankle reflex reduced|NCI|N|
C4685426|Asymptomatic; clinical or diagnostic observations only; intervention not indicated|NCI|N|
C4685427|Mild pain|NCI|N|
C4685428|Asymptomatic; mild symptoms with no intervention indicated|NCI|N|
C4685429|Medical intervention not indicated (e.g., superficial thrombosis)|NCI|N|
C4685430|Asymptomatic; local symptomatic management|NCI|N|
C4685431|TSH increased and no intervention initiated|NCI|N|
C4685432|Mild symptoms; intervention not indicated|NCI|N|
C4685433|Asymptomatic; hypoplasia of tooth or enamel|NCI|N|
C4685434|Surface stains|NCI|N|
C4685435|Mild pain|NCI|N|
C4685436|Endoscopic findings only; minimal hemoptysis, pain, or respiratory symptoms|NCI|N|
C4685437|Partial asymptomatic obstruction on examination (e.g., visual, radiologic or endoscopic)|NCI|N|
C4685438|Asymptomatic; clinical or diagnostic observations only; intervention not indicated|NCI|N|
C4685439|Minimal bleeding identified on clinical exam; intervention not indicated|NCI|N|
C4685440|Mild neurologic deficit with or without imaging confirmation|NCI|N|
C4685441|Asymptomatic valvular thickening with or without mild valvular regurgitation or stenosis|NCI|N|
C4685442|Asymptomatic; clinical or diagnostic observations only; intervention not indicated|NCI|N|
C4685443|Asymptomatic; clinical or diagnostic observations only; intervention not indicated|NCI|N|
C4685444|Mild symptoms; intervention not indicated|NCI|N|
C4685445|Mild symptoms; intervention not indicated|NCI|N|
C4685446|Asymptomatic diagnostic finding; intervention not indicated|NCI|N|
C4685447|Asymptomatic diagnostic finding; intervention not indicated|NCI|N|
C4685448|Present|NCI|N|
C4685449|Asymptomatic; clinical or diagnostic observations only; intervention not indicated|NCI|N|
C4685450|Mild pain|NCI|N|
C4685451|Present|NCI|N|
C4685452|Present|NCI|N|
C4685453|Asymptomatic diagnostic finding; intervention not indicated|NCI|N|
C4685454|Asymptomatic; clinical or diagnostic observations only; intervention not indicated|NCI|N|
C4685455|Minimal bleeding identified on clinical exam; intervention not indicated|NCI|N|
C4685456|Asymptomatic diagnostic finding; intervention not indicated|NCI|N|
C4685457|Asymptomatic|NCI|N|
C4685458|Asymptomatic; clinical or diagnostic observations only; intervention not indicated|NCI|N|
C4685459|Mild pain|NCI|N|
C4685460|Mild pain; erythema 2.5-5cm; induration/swelling 2.5-5cm; does not interfere with activity|NCI|N|
C4685461|Local lymph node enlargement|NCI|N|
C4685462|Asymptomatic diagnostic finding; intervention not indicated|NCI|N|
C4685463|Mild vaginal discharge (greater than baseline for patient)|NCI|N|
C4685464|Localized, local intervention indicated|NCI|N|
C4685465|Mild discomfort or pain, edema, or redness|NCI|N|
C4685466|Asymptomatic; clinical or diagnostic observations only; intervention not indicated|NCI|N|
C4685467|Mild pain|NCI|N|
C4685468|Asymptomatic; mild vaginal shortening or narrowing|NCI|N|
C4685469|Asymptomatic; clinical or diagnostic observations only; intervention not indicated|NCI|N|
C4685470|Asymptomatic diagnostic finding; intervention not indicated|NCI|N|
C4685471|TPA administration into line with no intent for systemic therapy indicated|NCI|N|
C4685472|Asymptomatic or mild symptoms; clinical or diagnostic observations only; intervention not indicated|NCI|N|
C4685473|Asymptomatic diagnostic finding; intervention not indicated|NCI|N|
C4685474|Mild symptoms|NCI|N|
C4685475|Mild symptoms; intervention not indicated|NCI|N|
C4685476|90-75% of predicted value|NCI|N|
C4685477|Mild or intermittent change from normal voice|NCI|N|
C4685478|Localized, local intervention indicated|NCI|N|
C4685479|Intervention not indicated|NCI|N|
C4685480|Detectable airway noise with minimal symptoms|NCI|N|
C4685481|<LLN-3000/mm3; <LLN-3.0 x 10e9/L|NCI|N|
C4685482|Observation only; topical intervention indicated|NCI|N|
C4685483|Incisional separation, intervention not indicated|NCI|N|
C4685484|Localized, local intervention indicated|NCI|N|
C4685485|Mild; non-operative intervention indicated|NCI|N|
C4685486|Symptomatic; limiting instrumental ADL|NCI|N|
C4685487|Oral intervention indicated (e.g., antibiotic, antifungal, or antiviral)|NCI|N|
C4685488|Moderate pain; limiting instrumental ADL|NCI|N|
C4685489|Local wound care; medical intervention indicated (e.g., dressings or topical medications)|NCI|N|
C4685490|Moderate symptoms; limiting instrumental ADL|NCI|N|
C4685491|Moderate symptoms; limiting instrumental ADL|NCI|N|
C4685492|Moderate symptoms; limiting instrumental ADL|NCI|N|
C4685493|Moderate restlessness or increased motor activity; limiting instrumental ADL|NCI|N|
C4685494|>3.0-5.0 x ULN if baseline was normal; >3.0-5.0 x baseline if baseline was abnormal|NCI|N|
C4685495|Present|NCI|N|
C4685496|>2.5-5.0 x ULN if baseline was normal; >2.5-5.0 x baseline if baseline was abnormal|NCI|N|
C4685497|Oral intervention indicated|NCI|N|
C4685498|Moderate symptoms; medical intervention indicated|NCI|N|
C4685499|Present|NCI|N|
C4685500|Moderate; short term memory loss; limiting instrumental ADL|NCI|N|
C4685501|Symptomatic|NCI|N|
C4685502|Symptomatic, invasive intervention not indicated|NCI|N|
C4685503|Moderate symptoms; intervention indicated|NCI|N|
C4685504|Symptomatic; medical intervention indicated; limiting instrumental ADL|NCI|N|
C4685505|Moderate pain; limiting instrumental ADL|NCI|N|
C4685506|Symptomatic; altered GI function|NCI|N|
C4685507|Symptomatic; altered GI function|NCI|N|
C4685508|Hgb <10.0-8.0 g/dL; <6.2-4.9 mmol/L; <100-80g/L|NCI|N|
C4685509|Limiting instrumental ADL; outpatient operative intervention indicated|NCI|N|
C4685510|Oral intervention indicated (e.g., antibiotic, antifungal, or antiviral)|NCI|N|
C4685511|Inability to achieve orgasm adversely affecting relationship|NCI|N|
C4685512|Operative intervention not indicated|NCI|N|
C4685513|Asymptomatic; moderate regurgitation or stenosis by imaging|NCI|N|
C4685514|Moderate symptoms; limiting instrumental ADL|NCI|N|
C4685515|Symptomatic; repair or revision not indicated|NCI|N|
C4685516|Moderate pain; limiting instrumental ADL|NCI|N|
C4685517|Moderate pain associated with signs of inflammation, erythema, or joint swelling; limiting instrumental ADL|NCI|N|
C4685518|Symptomatic; medical intervention indicated|NCI|N|
C4685519|>3.0-5.0 x ULN if baseline was normal; >3.0-5.0 x baseline if baseline was abnormal|NCI|N|
C4685520|Non-urgent intervention indicated|NCI|N|
C4685521|Non-urgent intervention indicated|NCI|N|
C4685522|Symptomatic; limiting instrumental ADL|NCI|N|
C4685523|Absence of sperm in ejaculate|NCI|N|
C4685524|Blood culture positive with no signs or symptoms|NCI|N|
C4685525|Intervention initiated (including over the counter medications)|NCI|N|
C4685526|Symptomatic; altered GI function; IV fluids indicated <24 hrs|NCI|N|
C4685527|Symptomatic; medical intervention indicated|NCI|N|
C4685528|Symptomatic, invasive intervention not indicated|NCI|N|
C4685529|Oral intervention indicated (e.g., antibiotic, antifungal, or antiviral)|NCI|N|
C4685530|Symptomatic; medical intervention indicated|NCI|N|
C4685531|Oral intervention indicated (e.g., antibiotic, antifungal, or antiviral)|NCI|N|
C4685532|Symptomatic, decreased oral intake; change in bowel function|NCI|N|
C4685533|Moderate; minimal, local or noninvasive intervention indicated; limiting age-appropriate instrumental ADL|NCI|N|
C4685534|Symptomatic; medical intervention indicated|NCI|N|
C4685535|>1.5-3.0 x ULN if baseline was normal; >1.5-3.0 x baseline if baseline was abnormal|NCI|N|
C4685536|Symptomatic; medical intervention indicated|NCI|N|
C4685537|Symptomatic; medical intervention indicated; limiting instrumental ADL|NCI|N|
C4685538|Moderate symptoms; limiting instrumental ADL|NCI|N|
C4685539|Pronounced odor; psychosocial impact; patient seeks medical intervention|NCI|N|
C4685540|Oral intervention indicated (e.g., antibiotic, antifungal, or antiviral)|NCI|N|
C4685541|Moderately hypocellular or >25-<50% reduction from normal cellularity for age|NCI|N|
C4685542|Moderate asymmetry; moderate atrophy|NCI|N|
C4685543|Local infection with moderate symptoms; oral intervention indicated (e.g., antibiotic, antifungal, or antiviral)|NCI|N|
C4685544|Symptomatic, invasive intervention not indicated|NCI|N|
C4685545|Moderate symptoms; oral intervention indicated (e.g., antibiotic, antifungal, or antiviral)|NCI|N|
C4685546|Symptomatic (e.g., mild wheezing); endoscopic evaluation indicated; radiographic evidence of atelectasis/lobar collapse; medical management indicated (e.g., steroids, bronchodilators)|NCI|N|
C4685547|Symptomatic (e.g., rhonchi or wheezing) but without respiratory distress; medical intervention indicated (e.g., steroids, bronchodilators)|NCI|N|
C4685548|Symptomatic, invasive intervention not indicated|NCI|N|
C4685549|Moderate symptoms; invasive intervention not indicated|NCI|N|
C4685550|Symptomatic; medical intervention indicated; limiting instrumental ADL|NCI|N|
C4685551|Generalized|NCI|N|
C4685552|Medical management indicated|NCI|N|
C4685553|Blisters covering 10-30% BSA; painful blisters; limiting instrumental ADL|NCI|N|
C4685554|Symptomatic; medical intervention indicated|NCI|N|
C4685555|6-8 units below LLN; for follow-up, an asymptomatic decrease of >5-8 units (ml/min/mm Hg) below the baseline value; symptomatic and intervention not indicated|NCI|N|
C4685556|Moderate; minimal, local or noninvasive intervention indicated; limiting age-appropriate instrumental ADL|NCI|N|
C4685557|Localized; local intervention indicated; oral intervention indicated (e.g., antibiotic, antifungal, or antiviral)|NCI|N|
C4685558|<500-200/mm3; <0.5-0.2 x 10e9/L|NCI|N|
C4685559|Moderate symptoms; intervention indicated|NCI|N|
C4685560|Localized; oral intervention indicated (e.g., antibiotic, antifungal, or antiviral)|NCI|N|
C4685561|Moderate symptoms; corticosteroids indicated|NCI|N|
C4685562|Post-craniotomy: moderate symptoms; medical intervention indicated; Post-lumbar puncture: persistent moderate symptoms; blood patch indicated|NCI|N|
C4685563|Localized; local intervention indicated (e.g., topical antibiotic, antifungal, or antiviral)|NCI|N|
C4685564|Moderate pain; pain on exertion; limiting instrumental ADL; hemodynamically stable|NCI|N|
C4685565|Local wound care; medical intervention indicated (e.g., dressings or topical medications)|NCI|N|
C4685566|Moderate tremor of the entire body; narcotics indicated|NCI|N|
C4685567|>300-400 mg/dL; >7.75-10.34 mmol/L|NCI|N|
C4685568|eGFR or CrCl 59-30 ml/min/1.73 m2|NCI|N|
C4685569|Symptomatic; medical intervention indicated (e.g., fat-restricted diet); paracentesis or tube drainage indicated|NCI|N|
C4685570|Symptomatic, invasive intervention not indicated|NCI|N|
C4685571|Moderate symptoms; intervention indicated|NCI|N|
C4685572|Invasive intervention not indicated|NCI|N|
C4685573|Symptomatic; altered GI function|NCI|N|
C4685574|Symptomatic; altered GI function|NCI|N|
C4685575|Moderate impairment in attention or decreased level of concentration; limiting instrumental ADL|NCI|N|
C4685576|Non-urgent medical intervention indicated|NCI|N|
C4685577|Moderate; minimal, local or noninvasive intervention indicated; limiting age-appropriate instrumental ADL|NCI|N|
C4685578|Localized; local intervention indicated (e.g., topical antibiotic, antifungal, or antiviral)|NCI|N|
C4685579|Symptomatic; moderate decrease in visual acuity (best corrected visual acuity 20/40 and better or 3 lines or less decreased vision from known baseline)|NCI|N|
C4685580|Localized; local intervention indicated (e.g., topical antibiotic, antifungal, or antiviral)|NCI|N|
C4685581|>2.5 x ULN-5 x ULN|NCI|N|
C4685582|>1.5-3.0 x baseline; >1.5-3.0 x ULN|NCI|N|
C4685583|Moderate symptoms; medical intervention indicated|NCI|N|
C4685584|Present|NCI|N|
C4685585|Moderate hematuria; moderate increase in frequency, urgency, dysuria, nocturia or incontinence; urinary catheter placement or bladder irrigation indicated; limiting instrumental ADL|NCI|N|
C4685586|Hypotension responding to fluids; hypoxia responding to <40% O2|NCI|N|
C4685587|Moderate symptoms; medical intervention indicated|NCI|N|
C4685588|Delay in achieving orgasm adversely affecting relationship|NCI|N|
C4685589|Moderate and acute confusional state; limiting instrumental ADL|NCI|N|
C4685590|Moderate delusional symptoms|NCI|N|
C4685591|Dental caries involving the root|NCI|N|
C4685592|Sedation; slow response to stimuli; limiting instrumental ADL|NCI|N|
C4685593|Moderate to brisk erythema; patchy moist desquamation, mostly confined to skin folds and creases; moderate edema|NCI|N|
C4685594|Oral intervention indicated (e.g., antibiotic, antifungal)|NCI|N|
C4685595|Symptomatic; moderate decrease in visual acuity (best corrected visual acuity 20/40 and better or 3 lines or less decreased vision from known baseline)|NCI|N|
C4685596|Moderate symptoms; oral intake alterations (e.g., copious water, other lubricants, diet limited to purees and/or soft, moist foods); unstimulated saliva 0.1 to 0.2 ml/min|NCI|N|
C4685597|Moderate symptoms; intervention indicated|NCI|N|
C4685598|Moderate symptoms; medical intervention indicated (e.g., oral antibiotics)|NCI|N|
C4685599|Symptomatic; altered GI function|NCI|N|
C4685600|Invasive intervention not indicated|NCI|N|
C4685601|Symptomatic; altered GI function|NCI|N|
C4685602|Symptomatic; medical intervention indicated; limiting instrumental ADL|NCI|N|
C4685603|Moderate impairment of articulation or slurred speech|NCI|N|
C4685604|Moderate sensory alteration; limiting instrumental ADL|NCI|N|
C4685605|Altered taste with change in diet (e.g., oral supplements); noxious or unpleasant taste; loss of taste|NCI|N|
C4685606|Moderate symptoms; limiting instrumental ADL|NCI|N|
C4685607|Moderate discomfort or pain associated with vaginal penetration; discomfort or pain partially relieved with use of vaginal lubricants or estrogen|NCI|N|
C4685608|Moderate symptoms; medical intervention indicated|NCI|N|
C4685609|Moderate receptive or expressive characteristics; impairing ability to communicate spontaneously|NCI|N|
C4685610|Moderate; minimal, local or noninvasive intervention indicated; limiting age-appropriate instrumental ADL|NCI|N|
C4685611|Moderate pain; limiting instrumental ADL|NCI|N|
C4685612|Moderate; topical or oral intervention indicated; additional medical intervention over baseline indicated|NCI|N|
C4685613|>10-30% inter-limb discrepancy in volume or circumference at point of greatest visible difference; readily apparent obscuration of anatomic architecture; obliteration of skin folds; readily apparent deviation from normal anatomic contour; limiting instrumental ADL|NCI|N|
C4685614|Readily apparent obscuration of anatomic architecture; obliteration of skin folds; readily apparent deviation from normal anatomic contour; limiting instrumental ADL|NCI|N|
C4685615|Anejaculation or retrograde ejaculation|NCI|N|
C4685616|Resting ejection fraction (EF) 50-40%; 10-19% drop from baseline|NCI|N|
C4685617|Average QTc 481-500 ms|NCI|N|
C4685618|Nonspecific ST segment change|NCI|N|
C4685619|Moderate; minimal, local or noninvasive intervention indicated; limiting age-appropriate instrumental ADL|NCI|N|
C4685620|Local intervention indicated|NCI|N|
C4685621|Passage of >3 unformed stools per 24 hrs or duration of illness >48 hrs; moderate abdominal pain; oral intervention indicated (e.g., antibiotic, antifungal, or antiviral)|NCI|N|
C4685622|Abdominal pain; mucus or blood in stool|NCI|N|
C4685623|Symptomatic, invasive intervention not indicated|NCI|N|
C4685624|Moderate symptoms; medical intervention indicated (e.g., nasal packing, cauterization; topical vasoconstrictors)|NCI|N|
C4685625|Moderate symptoms; medical intervention indicated|NCI|N|
C4685626|Target lesions covering 10-30% BSA and associated with skin tenderness|NCI|N|
C4685627|Erythema covering >90% BSA without associated symptoms; limiting instrumental ADL|NCI|N|
C4685628|Symptomatic; medical intervention indicated|NCI|N|
C4685629|Moderate symptoms; intervention indicated|NCI|N|
C4685630|Local intervention indicated (e.g., oral antibiotic, antifungal, antiviral)|NCI|N|
C4685631|Symptomatic; altered GI function; limiting instrumental ADL|NCI|N|
C4685632|Moderate pain; limiting instrumental ADL|NCI|N|
C4685633|Invasive intervention not indicated|NCI|N|
C4685634|Symptomatic; altered GI function|NCI|N|
C4685635|Symptomatic; altered GI function; limiting instrumental ADL|NCI|N|
C4685636|Unilateral paresis without double vision|NCI|N|
C4685637|Moderate involuntary movements; limiting instrumental ADL|NCI|N|
C4685638|Moderate; minimal, local or noninvasive intervention indicated; limiting instrumental ADL; best corrected visual acuity 20/40 and better or 3 lines or less decreased vision from known baseline|NCI|N|
C4685639|Localized; local intervention indicated (e.g., topical antibiotic, antifungal, or antiviral)|NCI|N|
C4685640|Symptomatic; nonoperative intervention indicated; limiting instrumental ADL|NCI|N|
C4685641|Moderate symptoms; limiting instrumental ADL|NCI|N|
C4685642|Moderate symptoms; limiting instrumental ADL|NCI|N|
C4685643|Moderate pain; limiting instrumental ADL|NCI|N|
C4685644|Symptomatic; noninvasive intervention indicated|NCI|N|
C4685645|Symptomatic; medical intervention indicated|NCI|N|
C4685646|Covering 10-30% BSA and associated with erythema or tenderness; limiting instrumental ADL|NCI|N|
C4685647|Moderate symptoms; medical intervention indicated|NCI|N|
C4685648|<10% percentile of weight for gestational age|NCI|N|
C4685649|>39.0-40.0 degrees C (102.3-104.0 degrees F)|NCI|N|
C4685650|<0.75-0.5 x LLN; if abnormal, 25-<50% decrease from baseline|NCI|N|
C4685651|Moderate induration, able to slide skin, unable to pinch skin; limiting instrumental ADL|NCI|N|
C4685652|Moderate pain; limiting instrumental ADL|NCI|N|
C4685653|Limiting instrumental ADL|NCI|N|
C4685654|Limiting instrumental ADL|NCI|N|
C4685655|Moderate symptoms; limiting instrumental ADL|NCI|N|
C4685656|Covering 10-30% of the body surface area; topical intervention initiated|NCI|N|
C4685657|FEV1 60-69%|NCI|N|
C4685658|Moderate symptoms; medical intervention indicated|NCI|N|
C4685659|Moderate change in gait (e.g., wide-based, limping or hobbling); assistive device indicated; limiting instrumental ADL|NCI|N|
C4685660|Oral intervention indicated (e.g., antibiotic, antifungal, or antiviral)|NCI|N|
C4685661|Symptomatic; medical intervention indicated|NCI|N|
C4685662|Symptomatic, invasive intervention not indicated|NCI|N|
C4685663|Moderate symptoms; intervention indicated|NCI|N|
C4685664|Invasive intervention not indicated|NCI|N|
C4685665|Symptomatic; altered GI function; medical intervention indicated; limiting instrumental ADL|NCI|N|
C4685666|Moderate symptoms; medical intervention indicated|NCI|N|
C4685667|Symptomatic; medical intervention indicated|NCI|N|
C4685668|Moderate; minimal, local or noninvasive intervention indicated; limiting age-appropriate instrumental ADL|NCI|N|
C4685669|Symptomatic, invasive intervention not indicated|NCI|N|
C4685670|Moderate pain; limiting instrumental ADL|NCI|N|
C4685671|Superficial necrosis; intervention not indicated|NCI|N|
C4685672|Moderate symptoms; able to maintain nutrition with dietary and lifestyle modifications; may need pharmacologic intervention|NCI|N|
C4685673|Moderate; minimal, local or noninvasive intervention indicated; limiting age-appropriate instrumental ADL|NCI|N|
C4685674|Interfering with instrumental ADLs; oral therapy initiated|NCI|N|
C4685675|Symptomatic; evident on physical exam; limiting instrumental ADL|NCI|N|
C4685676|Readily apparent obscuration of anatomic architecture; obliteration of skin folds; readily apparent deviation from normal anatomic contour|NCI|N|
C4685677|>2.5-5.0 x ULN if baseline was normal; >2.5-5.0 x baseline if baseline was abnormal|NCI|N|
C4685678|Moderate pain interfering with oral intake|NCI|N|
C4685679|Moderate symptoms; limiting instrumental ADL|NCI|N|
C4685680|Symptomatic; dietary modification or oral agent indicated|NCI|N|
C4685681|>= +2 SD (standard deviation) above mid parental height or target height|NCI|N|
C4685682|Symptomatic; medical intervention indicated; limiting instrumental ADL|NCI|N|
C4685683|Reduction in growth velocity by 30-49% ideally measured over the period of a year or 0-49% reduction in growth from the baseline growth curve|NCI|N|
C4685684|Moderate symptoms; limiting instrumental ADL|NCI|N|
C4685685|Moderate symptoms; oral intervention indicated (e.g., antibiotic, antifungal, or antiviral)|NCI|N|
C4685686|Moderate hallucinations|NCI|N|
C4685687|Adults enrolled on a Monitoring Program (on a 1, 2, 3, 4, 6, and 8 kHz audiogram): Threshold shift of >25 dB averaged at 2 contiguous test frequencies in at least one ear; Adults not enrolled on a Monitoring Program: Hearing loss with hearing aid or intervention not indicated; limiting instrumental ADL; Pediatric (on a 1, 2, 3, 4, 6, and 8 kHz audiogram): Threshold shift >20 dB at 4 kHz in at least one ear|NCI|N|
C4685688|Symptoms with moderate activity or exertion|NCI|N|
C4685689|Moderate bleeding; medical intervention indicated|NCI|N|
C4685690|Symptomatic; urinary catheter or bladder irrigation indicated; limiting instrumental ADL|NCI|N|
C4685691|Increase in >2-4 g/dL|NCI|N|
C4685692|Moderate symptoms; intervention indicated|NCI|N|
C4685693|Moderate symptoms; intervention indicated|NCI|N|
C4685694|Moderate symptoms; oral intervention indicated (e.g., antibiotic, antifungal, or antiviral)|NCI|N|
C4685695|Moderate pain; limiting instrumental ADL|NCI|N|
C4685696|Moderate symptoms; medical intervention indicated|NCI|N|
C4685697|Moderate symptoms; medical intervention indicated|NCI|N|
C4685698|Moderate; minimal, local or noninvasive intervention indicated; limiting age-appropriate instrumental ADL|NCI|N|
C4685699|Moderate symptoms; medical intervention indicated|NCI|N|
C4685700|Moderate symptoms; medical intervention indicated; limiting instrumental ADL|NCI|N|
C4685701|Hairline fracture; mild pain; limiting instrumental ADL; non-operative intervention indicated|NCI|N|
C4685702|In women, increase in length, thickness or density of hair in a male distribution that requires daily shaving or consistent destructive means of hair removal to camouflage; associated with psychosocial impact|NCI|N|
C4685703|Moderate or persistent voice changes; may require occasional repetition but understandable on telephone; medical evaluation indicated|NCI|N|
C4685704|Corrected serum calcium of >11.5-12.5 mg/dL; >2.9-3.1 mmol/L; Ionized calcium >1.5-1.6 mmol/L; symptomatic|NCI|N|
C4685705|Change in daily management from baseline for a diabetic; oral antiglycemic agent initiated; workup for diabetes|NCI|N|
C4685706|Involving >1 site; patient seeks medical intervention; associated with psychosocial impact|NCI|N|
C4685707|>5.5-6.0 mmol/L; intervention initiated|NCI|N|
C4685708|Requiring pharmaceutical intervention|NCI|N|
C4685709|>150-155 mmol/L; intervention initiated|NCI|N|
C4685710|Moderate symptoms; medical intervention indicated|NCI|N|
C4685711|Noninvasive intervention indicated|NCI|N|
C4685712|Moderate increased need for sleep|NCI|N|
C4685713|Symptomatic; thyroid suppression therapy indicated; limiting instrumental ADL|NCI|N|
C4685714|Increase in length, thickness or density of hair at least on the usual exposed areas of the body [face (not limited to beard/moustache area) plus/minus arms] that requires frequent shaving or use of destructive means of hair removal to camouflage; associated with psychosocial impact|NCI|N|
C4685715|>300 mg/dL-500 mg/dL; >3.42 mmol/L-5.7 mmol/L|NCI|N|
C4685716|<3-2 g/dL; <30-20 g/L|NCI|N|
C4685717|Corrected serum calcium of <8.0-7.0 mg/dL; <2.0-1.75 mmol/L; Ionized calcium <1.0-0.9 mmol/L; symptomatic|NCI|N|
C4685718|Moderate symptoms; limiting instrumental ADL|NCI|N|
C4685719|<55-40 mg/dL; <3.0-2.2 mmol/L|NCI|N|
C4685720|Symptomatic; limiting instrumental ADL|NCI|N|
C4685721|Symptomatic with <LLN-3.0 mmol/L; intervention indicated|NCI|N|
C4685722|<1.2-0.9 mg/dL; <0.5-0.4 mmol/L|NCI|N|
C4685723|125-129 mmol/L and asymptomatic|NCI|N|
C4685724|Moderate symptoms; medical intervention indicated|NCI|N|
C4685725|Oral replacement therapy indicated|NCI|N|
C4685726|Moderate; minimal, local or noninvasive intervention indicated; limiting age-appropriate instrumental ADL|NCI|N|
C4685727|Symptomatic; thyroid replacement indicated; limiting instrumental ADL|NCI|N|
C4685728|Invasive intervention not indicated|NCI|N|
C4685729|Symptomatic; altered GI function|NCI|N|
C4685730|Moderate; minimal, local or noninvasive intervention indicated; limiting age-appropriate instrumental ADL|NCI|N|
C4685731|Moderate; minimal, local or noninvasive intervention indicated; limiting age-appropriate instrumental ADL|NCI|N|
C4685732|Localized; local intervention indicated (e.g., topical antibiotic, antifungal, or antiviral)|NCI|N|
C4685733|Therapy or infusion interruption indicated but responds promptly to symptomatic treatment (e.g., antihistamines, NSAIDS, narcotics, IV fluids); prophylactic medications indicated for <=24 hrs|NCI|N|
C4685734|Erythema with associated symptoms (e.g., edema, pain, induration, phlebitis)|NCI|N|
C4685735|Pain; lipodystrophy; edema; phlebitis|NCI|N|
C4685736|Repair or revision not indicated|NCI|N|
C4685737|Repair or revision not indicated|NCI|N|
C4685738|Symptomatic; repair or revision not indicated|NCI|N|
C4685739|Moderate; minimal, local or noninvasive intervention indicated; limiting age-appropriate instrumental ADL|NCI|N|
C4685740|>1.5-2.5; >1.5-2.5 x baseline if on anticoagulation; dose adjustment indicated|NCI|N|
C4685741|Symptomatic; medical intervention indicated|NCI|N|
C4685742|Self-limited; intervention not indicated|NCI|N|
C4685743|Moderate bleeding; medical intervention indicated|NCI|N|
C4685744|Moderate symptoms; intervention indicated|NCI|N|
C4685745|Partial resection of injured organ/structure indicated|NCI|N|
C4685746|Partial resection of injured organ/structure indicated|NCI|N|
C4685747|Partial resection of injured organ/structure indicated|NCI|N|
C4685748|Partial resection of injured organ/structure indicated|NCI|N|
C4685749|Partial resection of injured organ/structure indicated|NCI|N|
C4685750|Partial resection of injured organ/structure indicated|NCI|N|
C4685751|Partial resection of injured organ/structure indicated|NCI|N|
C4685752|Partial resection of injured organ/structure indicated|NCI|N|
C4685753|Partial resection of injured organ/structure indicated|NCI|N|
C4685754|Partial resection of injured organ/structure indicated|NCI|N|
C4685755|Partial resection of injured organ/structure indicated|NCI|N|
C4685756|Partial resection of injured organ/structure indicated|NCI|N|
C4685757|Partial resection of injured organ/structure indicated|NCI|N|
C4685758|Primary repair of injured organ/structure indicated|NCI|N|
C4685759|Partial resection of injured organ/structure indicated|NCI|N|
C4685760|Partial resection of injured organ/structure indicated|NCI|N|
C4685761|Moderate; minimal, local or noninvasive intervention indicated; limiting age-appropriate instrumental ADL|NCI|N|
C4685762|Intermittent/irregular menses for more than 3 consecutive menstrual cycles|NCI|N|
C4685763|Moderate; limiting instrumental ADL; increased attention indicated|NCI|N|
C4685764|Moderate symptoms|NCI|N|
C4685765|Invasive intervention not indicated|NCI|N|
C4685766|Symptomatic; altered GI function|NCI|N|
C4685767|Localized; local intervention indicated; oral intervention indicated (e.g., antibiotic, antifungal, or antiviral); needle aspiration indicated (single or multiple)|NCI|N|
C4685768|Rotation <60 degrees to right or left; <60 degrees of flexion|NCI|N|
C4685769|Pain with range of motion (ROM) in lumbar spine; requires a reaching aid to pick up a very light object from the floor|NCI|N|
C4685770|>25-50% decrease in ROM; limiting instrumental ADL|NCI|N|
C4685771|Symptomatic; medical intervention indicated|NCI|N|
C4685772|Oral intervention indicated (e.g., antibiotic, antifungal, or antiviral)|NCI|N|
C4685773|Moderate accentuation; limiting instrumental ADL|NCI|N|
C4685774|Changes in lactation, significantly affecting breast production or expression of breast milk|NCI|N|
C4685775|Symptomatic; medical intervention indicated|NCI|N|
C4685776|Symptomatic; medical intervention indicated (e.g., dexamethasone, epinephrine, antihistamines)|NCI|N|
C4685777|Moderate sore throat; analgesics indicated|NCI|N|
C4685778|Moderate pain, analgesics indicated; altered oral intake; limiting instrumental ADL|NCI|N|
C4685779|Symptomatic (e.g., noisy airway breathing), no respiratory distress; medical intervention indicated (e.g., steroids); limiting instrumental ADL|NCI|N|
C4685780|Symptomatic (e.g., noisy airway breathing), no respiratory distress; medical intervention indicated (e.g., steroids); limiting instrumental ADL|NCI|N|
C4685781|Moderate symptoms; oral intervention indicated (e.g., antibiotic, antifungal, or antiviral)|NCI|N|
C4685782|Moderate symptoms; mild anxiety, but no dyspnea; short duration of observation and/or anxiolytic indicated; limiting instrumental ADL|NCI|N|
C4685783|Transient episode; intervention not indicated|NCI|N|
C4685784|Moderate symptoms; limiting instrumental ADL|NCI|N|
C4685785|Moderate symptoms; focal T2/FLAIR hyperintensities, involving periventricular white matter extending into centrum semiovale or involving 1/3 to 2/3 of susceptible areas of cerebrum +/- moderate increase in SAS and/or moderate ventriculomegaly|NCI|N|
C4685786|Decrease in sexual interest adversely affecting relationship|NCI|N|
C4685787|>1.5-2.0 x ULN; >2.0-5.0 x ULN and asymptomatic|NCI|N|
C4685788|Covering 10-30% BSA and associated tenderness; limiting instrumental ADL|NCI|N|
C4685789|Moderate localized edema and intervention indicated; limiting instrumental ADL|NCI|N|
C4685790|Moderate accentuation; limiting instrumental ADL|NCI|N|
C4685791|Moderate symptoms; intervention indicated|NCI|N|
C4685792|Moderate symptoms; oral intervention indicated (e.g., antibiotic, antifungal, or antiviral)|NCI|N|
C4685793|Localized; oral intervention indicated (e.g., antibiotic, antifungal, or antiviral)|NCI|N|
C4685794|Symptomatic; medical intervention indicated|NCI|N|
C4685795|Marked discoloration; leathery skin texture; papillary formation; limiting instrumental ADL|NCI|N|
C4685796|<800-500/mm3; <0.8-0.5 x 10e9/L|NCI|N|
C4685797|>4000/mm3-20,000/mm3|NCI|N|
C4685798|Uneasiness or lack of well being limiting instrumental ADL|NCI|N|
C4685799|Moderate manic symptoms (e.g., relationship and work difficulties; poor hygiene)|NCI|N|
C4685800|Moderate symptoms; limiting instrumental ADL|NCI|N|
C4685801|Moderate symptoms; medical intervention indicated (e.g., hormones)|NCI|N|
C4685802|Moderate; minimal, local or noninvasive intervention indicated; limiting age-appropriate instrumental ADL|NCI|N|
C4685803|>ULN|NCI|N|
C4685804|Serous otitis, medical intervention indicated|NCI|N|
C4685805|Asymptomatic; moderate regurgitation or stenosis by imaging|NCI|N|
C4685806|Moderate symptoms; limiting instrumental ADL|NCI|N|
C4685807|Oral intervention indicated (e.g., antibiotic, antifungal, or antiviral)|NCI|N|
C4685808|Moderate pain or ulcer that does not interfere with oral intake; modified diet indicated|NCI|N|
C4685809|Moderate pain; limiting instrumental ADL|NCI|N|
C4685810|Symptomatic; evident on physical exam; limiting instrumental ADL|NCI|N|
C4685811|Symptomatic; evident on physical exam; limiting instrumental ADL|NCI|N|
C4685812|Symptomatic; evident on physical exam; limiting instrumental ADL|NCI|N|
C4685813|Symptomatic; evident on physical exam; limiting instrumental ADL|NCI|N|
C4685814|Symptomatic; evident on physical exam; limiting instrumental ADL|NCI|N|
C4685815|Moderate; minimal, local or noninvasive intervention indicated; limiting age-appropriate instrumental ADL|NCI|N|
C4685816|Deformity, hypoplasia, or asymmetry able to be remediated by prosthesis (e.g., shoe insert) or covered by clothing|NCI|N|
C4685817|Moderate pain; limiting instrumental ADL|NCI|N|
C4685818|Moderate; minimal, local or noninvasive intervention indicated; limiting age-appropriate instrumental ADL|NCI|N|
C4685819|Asymptomatic and cardiac enzymes minimally abnormal and no evidence of ischemic ECG changes|NCI|N|
C4685820|Symptoms with moderate activity or exertion|NCI|N|
C4685821|Oral intervention indicated (e.g., antibiotic, antifungal, or antiviral)|NCI|N|
C4685822|Moderate symptoms; medical intervention indicated|NCI|N|
C4685823|Moderate neck edema; slight obliteration of anatomic landmarks; limiting instrumental ADL|NCI|N|
C4685824|Moderate; minimal, local or noninvasive intervention indicated; limiting age-appropriate instrumental ADL|NCI|N|
C4685825|Moderate; minimal, local or noninvasive intervention indicated; limiting age-appropriate instrumental ADL|NCI|N|
C4685826|Moderate pain; limiting instrumental ADL|NCI|N|
C4685827|<1500-1000/mm3; <1.5-1.0 x 10e9/L|NCI|N|
C4685828|Symptomatic; moderate decrease in visual acuity (best corrected visual acuity 20/40 and better or 3 lines or less decreased vision from known baseline); limiting instrumental ADL|NCI|N|
C4685829|Symptomatic; asymmetry of nipple areolar complex with moderate retraction and/or thickening of the nipple areolar complex|NCI|N|
C4685830|Moderate pain; limiting instrumental ADL|NCI|N|
C4685831|Symptomatic; altered GI function; limiting instrumental ADL|NCI|N|
C4685832|Moderate symptoms; limiting instrumental ADL|NCI|N|
C4685833|Moderate symptoms; limiting instrumental ADL|NCI|N|
C4685834|Moderate decrease in visual acuity (best corrected visual acuity 20/40 and better or 3 lines or less decreased vision from known baseline)|NCI|N|
C4685835|Symptomatic, invasive intervention not indicated|NCI|N|
C4685836|Moderate pain; interfering with oral intake|NCI|N|
C4685837|Moderate pain; altered oral intake; non-narcotics initiated; topical analgesics initiated|NCI|N|
C4685838|Symptomatic; medical intervention indicated (e.g., topical agents); limiting instrumental ADL|NCI|N|
C4685839|Symptomatic; medical intervention indicated (e.g., analgesics or bisphosphonates); limiting instrumental ADL|NCI|N|
C4685840|Oral intervention indicated (e.g., antibiotic, antifungal, or antiviral)|NCI|N|
C4685841|Localized; oral intervention indicated (e.g., antibiotic, antifungal, or antiviral)|NCI|N|
C4685842|Localized; oral intervention indicated (e.g., antibiotic, antifungal, or antiviral)|NCI|N|
C4685843|Symptomatic and intervention not indicated|NCI|N|
C4685844|Moderate pain; limiting instrumental ADL|NCI|N|
C4685845|Moderate pain; limiting instrumental ADL|NCI|N|
C4685846|Moderate pain; limiting instrumental ADL|NCI|N|
C4685847|Skin changes (e.g., peeling, blisters, bleeding, fissures, edema, or hyperkeratosis) with pain; limiting instrumental ADL|NCI|N|
C4685848|Symptomatic; medical intervention indicated|NCI|N|
C4685849|Symptomatic; altered GI function|NCI|N|
C4685850|Increase in stool frequency, bulk, or odor; steatorrhea|NCI|N|
C4685851|Symptomatic; moderate decrease in visual acuity (best corrected visual acuity 20/40 and better or 3 lines or less decreased vision from known baseline)|NCI|N|
C4685852|Papules and/or pustules covering 10-30% BSA, which may or may not be associated with symptoms of pruritus or tenderness; associated with psychosocial impact; limiting instrumental ADL; papules and/or pustules covering > 30% BSA with or without mild symptoms|NCI|N|
C4685853|Moderate symptoms; limiting instrumental ADL|NCI|N|
C4685854|Local intervention indicated; oral intervention indicated (e.g., antibiotic, antifungal, antiviral); nail fold edema or erythema with pain; associated with discharge or nail plate separation; limiting instrumental ADL|NCI|N|
C4685855|Non-urgent medical intervention indicated|NCI|N|
C4685856|Symptomatic, not interfering with bladder, bowel, or vaginal function; limiting instrumental ADL|NCI|N|
C4685857|Moderate symptoms; oral intervention indicated (e.g., antibiotic, antifungal, or antiviral)|NCI|N|
C4685858|Oral intervention indicated (e.g., antibiotic, antifungal, or antiviral)|NCI|N|
C4685859|Asymptomatic effusion size small to moderate|NCI|N|
C4685860|Moderate pain; limiting instrumental ADL|NCI|N|
C4685861|Indurated or pitting edema; topical intervention indicated|NCI|N|
C4685862|Localized; local intervention indicated (e.g., topical antibiotic, antifungal, or antiviral)|NCI|N|
C4685863|Brief (<24 hrs) episode of ischemia managed medically and without permanent deficit|NCI|N|
C4685864|Moderate symptoms; limiting instrumental ADL|NCI|N|
C4685865|Localized; local intervention indicated (e.g., topical antibiotic, antifungal, or antiviral)|NCI|N|
C4685866|Moderate symptoms; limiting instrumental ADL|NCI|N|
C4685867|Moderate personality change|NCI|N|
C4685868|Moderate pain; limiting instrumental ADL|NCI|N|
C4685869|Symptomatic; medical intervention indicated|NCI|N|
C4685870|Moderate pain, analgesics indicated; altered oral intake; limiting instrumental ADL|NCI|N|
C4685871|Symptomatic (e.g., noisy airway breathing), no respiratory distress; medical intervention indicated (e.g., steroids); limiting instrumental ADL|NCI|N|
C4685872|Oral intervention indicated (e.g., antibiotic, antifungal, or antiviral)|NCI|N|
C4685873|Moderate pain; limiting instrumental ADL|NCI|N|
C4685874|Oral intervention indicated (e.g., antibiotic, antifungal, or antiviral)|NCI|N|
C4685875|Present|NCI|N|
C4685876|<75,000-50,000/mm3; <75.0-50.0 x 10e9/L|NCI|N|
C4685877|Symptomatic; intervention indicated (e.g., diuretics or therapeutic thoracentesis)|NCI|N|
C4685878|Oral intervention indicated (e.g., antibiotic, antifungal, or antiviral)|NCI|N|
C4685879|Moderate pain; limiting instrumental ADL|NCI|N|
C4685880|Symptomatic; medical intervention indicated; limiting instrumental ADL|NCI|N|
C4685881|Decreased portal vein flow|NCI|N|
C4685882|Intervention not indicated|NCI|N|
C4685883|Moderate symptoms; medical intervention indicated|NCI|N|
C4685884|Moderate bleeding requiring transfusion < 2 units (10 cc/kg for pediatrics) of pRBCs|NCI|N|
C4685885|Extubated within 24-72 hrs postoperatively|NCI|N|
C4685886|Moderate; minimal, local or noninvasive intervention indicated; limiting age-appropriate instrumental ADL|NCI|N|
C4685887|Delivery of a liveborn infant at >28 to 34 weeks gestation|NCI|N|
C4685888|Present|NCI|N|
C4685889|Present (e.g., near fainting)|NCI|N|
C4685890|Moderate sputum production; limiting instrumental ADL|NCI|N|
C4685891|Recurrent after manual reduction; local irritation or stool leakage; difficulty to fit appliance; limiting instrumental ADL|NCI|N|
C4685892|Local care or maintenance; minor revision indicated|NCI|N|
C4685893|Moderate symptoms; oral intervention indicated (e.g., antibiotic, antifungal, or antiviral)|NCI|N|
C4685894|Symptomatic; elective intervention indicated|NCI|N|
C4685895|Moderate pain; limiting instrumental ADL|NCI|N|
C4685896|Moderate; minimal, local or noninvasive intervention indicated; limiting age-appropriate instrumental ADL|NCI|N|
C4685897|Moderate psychotic symptoms (e.g., disorganized speech; impaired reality testing)|NCI|N|
C4685898|Moderate dyspnea on exertion; medical intervention indicated; limiting instrumental ADL|NCI|N|
C4685899|Evidence of pulmonary hypertension; radiographic pulmonary fibrosis 25-50% associated with hypoxia|NCI|N|
C4685900|Symptomatic, invasive intervention not indicated|NCI|N|
C4685901|Asymptomatic; moderate regurgitation or stenosis by imaging|NCI|N|
C4685902|Combined area of lesions covering 10-30% BSA; bleeding with trauma|NCI|N|
C4685903|Moderate symptoms; limiting instrumental ADL|NCI|N|
C4685904|Moderate to brisk erythema; patchy moist desquamation, mostly confined to skin folds and creases; moderate edema|NCI|N|
C4685905|Moderate symptoms; medical intervention indicated; limiting instrumental ADL|NCI|N|
C4685906|Papules and/or pustules covering 10-30% BSA, which may or may not be associated with symptoms of pruritus or tenderness; associated with psychosocial impact; limiting instrumental ADL; papules and/or pustules covering > 30% BSA with or without mild symptoms|NCI|N|
C4685907|Macules/papules covering 10-30% BSA with or without symptoms (e.g., pruritus, burning, tightness); limiting instrumental ADL; rash covering > 30% BSA with or without mild symptoms|NCI|N|
C4685908|Symptomatic; medical intervention indicated|NCI|N|
C4685909|Symptomatic|NCI|N|
C4685910|Symptomatic; medical intervention indicated; limiting instrumental ADL|NCI|N|
C4685911|Moderate pain; limiting instrumental ADL|NCI|N|
C4685912|Symptomatic; altered GI function|NCI|N|
C4685913|Moderate symptoms|NCI|N|
C4685914|Moderate; minimal, local or noninvasive intervention indicated; limiting age-appropriate instrumental ADL|NCI|N|
C4685915|Symptomatic; oral antiemetics indicated; around the clock nonprescription analgesics or any oral narcotic analgesics indicated|NCI|N|
C4685916|Moderate pain; limiting instrumental ADL; prescription medication indicated|NCI|N|
C4685917|Moderate; minimal, local or noninvasive intervention indicated; limiting age-appropriate instrumental ADL|NCI|N|
C4685918|Moderate; minimal, local or noninvasive intervention indicated; limiting age-appropriate instrumental ADL|NCI|N|
C4685919|Moderate symptoms; limiting instrumental ADL|NCI|N|
C4685920|No retinal detachment and treatment indicated|NCI|N|
C4685921|Retinal vascular disorder without neovascularization|NCI|N|
C4685922|Self-limited; intervention indicated|NCI|N|
C4685923|Moderate symptoms; limiting instrumental ADL|NCI|N|
C4685924|Non-urgent intervention indicated|NCI|N|
C4685925|Localized; local intervention indicated|NCI|N|
C4685926|Moderate; minimal, local or noninvasive intervention indicated; limiting instrumental ADL|NCI|N|
C4685927|Thick, ropy, sticky saliva; markedly altered taste; alteration in diet indicated; secretion-induced symptoms; limiting instrumental ADL|NCI|N|
C4685928|Moderate symptoms; oral intervention indicated (e.g., antibiotic, antifungal, or antiviral)|NCI|N|
C4685929|Symptomatic; moderate decrease in visual acuity (best corrected visual acuity 20/40 and better or 3 lines or less decreased vision from known baseline); limiting instrumental ADL|NCI|N|
C4685930|>20-45 degrees; visible by forward flexion; limiting instrumental ADL|NCI|N|
C4685931|Oral intervention indicated (e.g., antibiotic, antifungal, or antiviral)|NCI|N|
C4685932|Moderate pain; limiting instrumental ADL|NCI|N|
C4685933|>1.5-2.0 x ULN; >2.0-5.0 x ULN and asymptomatic|NCI|N|
C4685934|Moderate arthralgia; fever, rash, urticaria, antihistamines indicated|NCI|N|
C4685935|Local infection with moderate symptoms; oral intervention indicated; limiting age-appropriate instrumental ADL|NCI|N|
C4685936|Symptomatic stenosis or edema/narrowing interfering with airflow; limiting instrumental ADL|NCI|N|
C4685937|Localized; oral intervention indicated (e.g., antibiotic, antifungal, or antiviral)|NCI|N|
C4685938|Blood bilirubin 2-5 mg/dL; minor interventions required (i.e., blood product, diuretic, oxygen)|NCI|N|
C4685939|Moderate; minimal, local or noninvasive intervention indicated; limiting age-appropriate instrumental ADL|NCI|N|
C4685940|Hyperpigmentation covering >10% BSA; associated psychosocial impact|NCI|N|
C4685941|Hypopigmentation or depigmentation covering >10% BSA; associated psychosocial impact|NCI|N|
C4685942|Moderate induration, able to slide skin, unable to pinch skin; limiting instrumental ADL|NCI|N|
C4685943|Oral intervention indicated (e.g., antibiotic, antifungal, or antiviral)|NCI|N|
C4685944|Intervention initiated|NCI|N|
C4685945|Combined area of ulcers 1-2 cm; partial thickness skin loss involving skin or subcutaneous fat|NCI|N|
C4685946|Moderate apnea and oxygen desaturation; excessive daytime sleepiness; medical evaluation indicated; limiting instrumental ADL|NCI|N|
C4685947|Symptomatic; medical intervention indicated|NCI|N|
C4685948|Symptomatic; medical intervention indicated; limiting instrumental ADL|NCI|N|
C4685949|Invasive intervention not indicated|NCI|N|
C4685950|Symptomatic; altered GI function|NCI|N|
C4685951|Moderate symptoms; oral intervention indicated (e.g., antibiotic, antifungal, or antiviral)|NCI|N|
C4685952|Symptomatic; altered GI function; limiting instrumental ADL|NCI|N|
C4685953|Moderate symptoms; medical intervention indicated|NCI|N|
C4685954|Moderate; minimal, local or noninvasive intervention indicated; limiting age-appropriate instrumental ADL|NCI|N|
C4685955|Localized; oral intervention indicated (e.g., antibiotic, antifungal, or antiviral)|NCI|N|
C4685956|Local wound care; medical intervention indicated (e.g., dressings or topical medications)|NCI|N|
C4685957|Local wound care; medical intervention indicated (e.g., dressings or topical medications)|NCI|N|
C4685958|Moderate sedation; limiting instrumental ADL|NCI|N|
C4685959|Moderate pain; limiting instrumental ADL|NCI|N|
C4685960|Moderate increase in muscle tone and increase in resistance through range of motion|NCI|N|
C4685961|Symptomatic; medical intervention indicated|NCI|N|
C4685962|Moderate back pain; prescription analgesics indicated; limiting instrumental ADL|NCI|N|
C4685963|Symptomatic; IV fluids indicated <24 hrs; manual dilation at bedside|NCI|N|
C4685964|Oral intervention indicated (e.g., antibiotic, antifungal, or antiviral)|NCI|N|
C4685965|Symptomatic; medical intervention indicated|NCI|N|
C4685966|Mild to moderate neurologic deficit; limiting instrumental ADL|NCI|N|
C4685967|Moderate; minimal, local or noninvasive intervention indicated|NCI|N|
C4685968|Suicidal ideation with no specific plan or intent|NCI|N|
C4685969|Moderate induration, able to slide skin, unable to pinch skin; limiting instrumental ADL|NCI|N|
C4685970|Present|NCI|N|
C4685971|Symptomatic; medical intervention indicated (e.g., anticoagulation, radiation or chemotherapy)|NCI|N|
C4685972|Moderate; minimal, local or noninvasive intervention indicated; limiting age-appropriate instrumental ADL|NCI|N|
C4685973|Ankle reflex absent; other reflexes reduced|NCI|N|
C4685974|Symptomatic but not interfering with sexual function; intervention not indicated; limiting instrumental ADL|NCI|N|
C4685975|Moderate pain; limiting instrumental ADL|NCI|N|
C4685976|Replacement therapy initiated|NCI|N|
C4685977|Medical intervention indicated|NCI|N|
C4685978|Oral intervention indicated (e.g., antifungal)|NCI|N|
C4685979|Impairment correctable with oral surgery|NCI|N|
C4685980|Localized; local intervention indicated (e.g., topical antibiotic, antifungal, or antiviral)|NCI|N|
C4685981|Moderate pain; limiting instrumental ADL|NCI|N|
C4685982|Moderate symptoms; medical intervention indicated; limiting instrumental ADL|NCI|N|
C4685983|Symptomatic (e.g., noisy airway breathing), no respiratory distress; medical intervention indicated (e.g., steroids); limiting instrumental ADL|NCI|N|
C4685984|Symptomatic (e.g., noisy airway breathing), no respiratory distress; medical intervention indicated (e.g., steroids); limiting instrumental ADL|NCI|N|
C4685985|Moderate symptoms; oral intervention indicated (e.g., antibiotic, antifungal, or antiviral)|NCI|N|
C4685986|Moderate bleeding; medical intervention indicated|NCI|N|
C4685987|Moderate neurologic deficit with or without imaging confirmation|NCI|N|
C4685988|Asymptomatic; moderate regurgitation or stenosis by imaging|NCI|N|
C4685989|Moderate symptoms; limiting instrumental ADL|NCI|N|
C4685990|Moderate symptoms; limiting instrumental ADL|NCI|N|
C4685991|Moderate symptoms; intervention indicated|NCI|N|
C4685992|Moderate length discrepancy 2-5 cm; shoe lift indicated; limiting instrumental ADL|NCI|N|
C4685993|Moderate symptoms; intervention indicated|NCI|N|
C4685994|Moderate symptoms; oral intervention indicated (e.g., antibiotic, antifungal, or antiviral)|NCI|N|
C4685995|Symptomatic; medical intervention indicated|NCI|N|
C4685996|Localized; oral intervention indicated (e.g., antibiotic, antifungal, or antiviral)|NCI|N|
C4685997|Symptomatic, invasive intervention not indicated|NCI|N|
C4685998|Limiting instrumental ADL; medical management indicated|NCI|N|
C4685999|Localized; oral intervention indicated (e.g., antibiotic, antifungal, or antiviral)|NCI|N|
C4686000|Symptomatic but no hydronephrosis, sepsis, or renal dysfunction; urethral dilation, urinary or suprapubic catheter indicated|NCI|N|
C4686001|Moderate pain; limiting instrumental ADL|NCI|N|
C4686002|Limiting instrumental ADL; medical management indicated|NCI|N|
C4686003|Symptomatic; medical intervention indicated|NCI|N|
C4686004|Symptomatic; dilation or endoscopic repair or stent placement indicated|NCI|N|
C4686005|Moderate bleeding; medical intervention indicated|NCI|N|
C4686006|Symptomatic but no hydronephrosis, sepsis, or renal dysfunction; dilation or endoscopic repair or stent placement indicated|NCI|N|
C4686007|Symptomatic; medical intervention indicated|NCI|N|
C4686008|Symptomatic, invasive intervention not indicated|NCI|N|
C4686009|Moderate symptoms; oral intervention indicated (e.g., antibiotic, antifungal, or antiviral)|NCI|N|
C4686010|Symptomatic; elective intervention indicated|NCI|N|
C4686011|Moderate pain; limiting instrumental ADL|NCI|N|
C4686012|Invasive intervention not indicated|NCI|N|
C4686013|Moderate pain; Erythema 5.1-10 cm; Induration/swelling 5.1-10 cm; lipodystrophy; limiting instrumental ADL|NCI|N|
C4686014|Localized ulceration; generalized lymph node enlargement|NCI|N|
C4686015|Symptomatic; medical intervention indicated|NCI|N|
C4686016|Moderate to heavy vaginal discharge; use of perineal pad or tampon indicated|NCI|N|
C4686017|Oral intervention indicated (e.g., antibiotic, antifungal, or antiviral)|NCI|N|
C4686018|Moderate discomfort or pain, edema, or redness; limiting instrumental ADL|NCI|N|
C4686019|Symptomatic; elective intervention indicated|NCI|N|
C4686020|Moderate pain; limiting instrumental ADL|NCI|N|
C4686021|Invasive intervention not indicated|NCI|N|
C4686022|Vaginal narrowing and/or shortening not interfering with physical examination|NCI|N|
C4686023|Moderate symptoms; limiting instrumental ADL|NCI|N|
C4686024|Symptomatic; medical intervention indicated|NCI|N|
C4686025|Device dislodgement, blockage, leak, or malposition; device replacement indicated|NCI|N|
C4686026|Moderate; minimal, local or noninvasive intervention indicated; limiting age-appropriate instrumental ADL|NCI|N|
C4686027|Symptomatic (e.g., claudication); repair or revision not indicated|NCI|N|
C4686028|Non-urgent medical intervention indicated|NCI|N|
C4686029|Moderate symptoms; limiting instrumental ADL|NCI|N|
C4686030|Symptomatic; limiting instrumental ADL|NCI|N|
C4686031|Moderate symptoms; medical intervention indicated|NCI|N|
C4686032|Brief (<24 hrs) episode of ischemia managed medically and without permanent deficit|NCI|N|
C4686033|Moderate decrease in visual acuity (best corrected visual acuity 20/40 and better or 3 lines or less decreased vision from known baseline)|NCI|N|
C4686034|<75-50% of predicted value; limiting instrumental ADL|NCI|N|
C4686035|Moderate or persistent change from normal voice; still understandable|NCI|N|
C4686036|Oral intervention indicated (e.g., antibiotic, antifungal, or antiviral)|NCI|N|
C4686037|Symptomatic; moderate decrease in visual acuity (best corrected visual acuity 20/40 and better or 3 lines or less decreased vision from known baseline)|NCI|N|
C4686038|Moderate symptoms; medical intervention indicated; limiting instrumental ADL|NCI|N|
C4686039|<3000-2000/mm3; <3.0-2.0 x 10e9/L|NCI|N|
C4686040|Bedside local care indicated|NCI|N|
C4686041|Incisional separation, local care (e.g., suturing) or medical intervention indicated (e.g., analgesic)|NCI|N|
C4686042|Oral intervention indicated (e.g., antibiotic, antifungal, or antiviral)|NCI|N|
C4686043|Limiting instrumental ADL; outpatient operative intervention indicated|NCI|N|
C4686044|Severe discomfort; limiting self care ADL|NCI|N|
C4686045|IV antibiotic, antifungal, or antiviral intervention indicated; invasive intervention indicated|NCI|N|
C4686046|Severe pain; limiting self care ADL|NCI|N|
C4686047|Operative debridement or other invasive intervention indicated (e.g., tissue reconstruction, flap, or grafting)|NCI|N|
C4686048|Severe symptoms; limiting self care ADL|NCI|N|
C4686049|Severe symptoms; limiting self care ADL|NCI|N|
C4686050|pH <7.3|NCI|N|
C4686051|Severe symptoms; limiting self care ADL|NCI|N|
C4686052|>2.5 x ULN; bleeding|NCI|N|
C4686053|Hospitalization indicated|NCI|N|
C4686054|Severe restlessness or increased motor activity; limiting self care ADL|NCI|N|
C4686055|>5.0-20.0 x ULN if baseline was normal; >5.0-20.0 x baseline if baseline was abnormal|NCI|N|
C4686056|Severe symptoms; limiting self care ADL|NCI|N|
C4686057|>5.0-20.0 x ULN if baseline was normal; >5.0-20.0 x baseline if baseline was abnormal|NCI|N|
C4686058|pH >7.5|NCI|N|
C4686059|Bronchospasm; hospitalization indicated for clinical sequelae; intravenous intervention indicated|NCI|N|
C4686060|Severe; long term memory loss; limiting self care ADL|NCI|N|
C4686061|Invasive intervention indicated|NCI|N|
C4686062|Transfusion indicated; invasive intervention indicated; hospitalization|NCI|N|
C4686063|Severe symptoms; limiting self care ADL|NCI|N|
C4686064|TPN or hospitalization indicated; invasive intervention indicated|NCI|N|
C4686065|Severe pain; limiting self care ADL|NCI|N|
C4686066|Symptomatic and severely altered GI function; non-emergent operative intervention indicated; TPN or hospitalization indicated|NCI|N|
C4686067|Severely altered GI function; TPN indicated; elective invasive intervention indicated|NCI|N|
C4686068|Symptomatic bronchospasm, with or without urticaria; parenteral intervention indicated; allergy-related edema/angioedema; hypotension|NCI|N|
C4686069|Hgb <8.0 g/dL; <4.9 mmol/L; <80 g/L; transfusion indicated|NCI|N|
C4686070|Limiting self care ADL; elective operative intervention indicated requiring hospitalization|NCI|N|
C4686071|IV antibiotic, antifungal, or antiviral intervention indicated; invasive intervention indicated|NCI|N|
C4686072|Severe symptoms; limiting self care ADL; repair or revision indicated|NCI|N|
C4686073|Symptomatic; severe regurgitation or stenosis by imaging; symptoms controlled with medical intervention|NCI|N|
C4686074|Voicelessness; unable to speak|NCI|N|
C4686075|Medical intervention indicated; operative intervention indicated|NCI|N|
C4686076|IV antibiotic, antifungal, or antiviral intervention indicated; invasive intervention indicated|NCI|N|
C4686077|Severe symptoms; limiting self care ADL|NCI|N|
C4686078|Urgent intervention indicated|NCI|N|
C4686079|IV antibiotic, antifungal, or antiviral intervention indicated; invasive intervention indicated|NCI|N|
C4686080|Severe pain; limiting self care ADL|NCI|N|
C4686081|Severe pain associated with signs of inflammation, erythema, or joint swelling; irreversible joint damage; limiting self care ADL|NCI|N|
C4686082|Severe symptoms; invasive intervention indicated|NCI|N|
C4686083|>5.0-20.0 x ULN if baseline was normal; >5.0-20.0 x baseline if baseline was abnormal|NCI|N|
C4686084|Symptomatic and incompletely controlled medically, or controlled with device (e.g., pacemaker); new onset|NCI|N|
C4686085|Autoimmune reactions involving major organ (e.g., colitis, anemia, myocarditis, kidney)|NCI|N|
C4686086|Severe symptoms; limiting self care ADL; elective operative intervention indicated|NCI|N|
C4686087|Severely altered GI function; invasive intervention indicated|NCI|N|
C4686088|Severe symptoms; invasive intervention indicated|NCI|N|
C4686089|Invasive intervention indicated|NCI|N|
C4686090|IV antibiotic, antifungal, or antiviral intervention indicated; invasive intervention indicated|NCI|N|
C4686091|Severe symptoms; invasive intervention indicated|NCI|N|
C4686092|IV antibiotic, antifungal, or antiviral intervention indicated; invasive intervention indicated|NCI|N|
C4686093|Severe or medically significant but not immediately life-threatening; hospitalization or prolongation of existing hospitalization indicated; limiting self care ADL|NCI|N|
C4686094|Hospitalization indicated|NCI|N|
C4686095|>3.0-10.0 x ULN if baseline was normal; >3.0-10.0 x baseline if baseline was abnormal|NCI|N|
C4686096|Hospitalization indicated|NCI|N|
C4686097|Severe symptoms; limiting self care ADL|NCI|N|
C4686098|IV antibiotic, antifungal, or antiviral intervention indicated; invasive intervention indicated|NCI|N|
C4686099|Severely hypocellular or >50-<=75% reduction cellularity from normal for age|NCI|N|
C4686100|Asymmetry >1/3 of breast volume; severe atrophy|NCI|N|
C4686101|IV antibiotic, antifungal, or antiviral intervention indicated; severe infection; axillary adenitis|NCI|N|
C4686102|Invasive intervention indicated|NCI|N|
C4686103|IV antibiotic, antifungal, or antiviral intervention indicated; invasive intervention indicated|NCI|N|
C4686104|Shortness of breath with stridor; endoscopic intervention indicated (e.g., laser, stent placement)|NCI|N|
C4686105|Shortness of breath with stridor; endoscopic intervention indicated (e.g., laser, stent placement)|NCI|N|
C4686106|Hospitalization; invasive intervention indicated|NCI|N|
C4686107|Transfusion indicated; invasive intervention indicated; hospitalization|NCI|N|
C4686108|Limiting self care ADL; supplemental oxygen indicated|NCI|N|
C4686109|Severe or medically significant but not immediately life-threatening; hospitalization or prolongation of existing hospitalization indicated; asterixis; mild encephalopathy|NCI|N|
C4686110|Blisters covering >30% BSA; limiting self care ADL|NCI|N|
C4686111|Severe symptoms; intervention indicated|NCI|N|
C4686112|Asymptomatic decrease of >8 units drop; >5 units drop along with the presence of pulmonary symptoms (e.g., >Grade 2 hypoxia or >Grade 2 dyspnea); intervention indicated|NCI|N|
C4686113|Severe or medically significant but not immediately life-threatening; hospitalization or prolongation of existing hospitalization indicated; limiting self care ADL|NCI|N|
C4686114|Levels consistent with myocardial infarction as defined by the manufacturer|NCI|N|
C4686115|IV antibiotic, antifungal, or antiviral intervention indicated; invasive intervention indicated|NCI|N|
C4686116|<200-50/mm3; <0.2 x 0.05-10e9/L|NCI|N|
C4686117|Transfusion indicated; invasive intervention indicated; hospitalization|NCI|N|
C4686118|IV antibiotic, antifungal, or antiviral intervention indicated; invasive intervention indicated|NCI|N|
C4686119|Severe symptoms; medical intervention indicated|NCI|N|
C4686120|Severe symptoms; medical intervention indicated|NCI|N|
C4686121|IV antibiotic, antifungal, or antiviral intervention indicated; invasive intervention indicated|NCI|N|
C4686122|Pain at rest; limiting self care ADL; cardiac catheterization; new onset cardiac chest pain; unstable angina|NCI|N|
C4686123|Operative debridement or other invasive intervention indicated (e.g., tissue reconstruction, flap, or grafting)|NCI|N|
C4686124|Severe or prolonged, not responsive to narcotics|NCI|N|
C4686125|>400-500 mg/dL; >10.34-12.92 mmol/L|NCI|N|
C4686126|eGFR or CrCl 29-15 ml/min/1.73 m2|NCI|N|
C4686127|Severe symptoms; elective operative intervention indicated|NCI|N|
C4686128|Invasive intervention indicated|NCI|N|
C4686129|Transfusion indicated; invasive intervention indicated; hospitalization|NCI|N|
C4686130|Hospitalization indicated; invasive intervention indicated|NCI|N|
C4686131|Invasive intervention indicated|NCI|N|
C4686132|Severely altered GI function; tube feeding or hospitalization indicated; elective operative intervention indicated|NCI|N|
C4686133|Severely altered GI function; TPN indicated; elective invasive intervention indicated|NCI|N|
C4686134|Severe impairment in attention or decreased level of concentration; limiting self care ADL|NCI|N|
C4686135|Symptomatic, urgent intervention indicated|NCI|N|
C4686136|Severe or medically significant but not immediately life-threatening; hospitalization or prolongation of existing hospitalization indicated; limiting self care ADL|NCI|N|
C4686137|IV antibiotic, antifungal, or antiviral intervention indicated; invasive intervention indicated|NCI|N|
C4686138|Symptomatic with marked decrease in visual acuity (best corrected visual acuity worse than 20/40 or more than 3 lines of decreased vision from known baseline, up to 20/200); limiting self care ADL|NCI|N|
C4686139|IV antibiotic, antifungal, or antiviral intervention indicated; invasive intervention indicated|NCI|N|
C4686140|Corneal ulcer without perforation in the affected eye|NCI|N|
C4686141|>5 x ULN-10 x ULN|NCI|N|
C4686142|IV antibiotic, antifungal, or antiviral intervention indicated; invasive intervention indicated|NCI|N|
C4686143|>3.0 x baseline; >3.0-6.0 x ULN|NCI|N|
C4686144|Severe symptoms, medical intervention or hospitalization indicated|NCI|N|
C4686145|Gross hematuria; transfusion, IV medications, or hospitalization indicated; elective invasive intervention indicated|NCI|N|
C4686146|Hypotension managed with one pressor; hypoxia requiring >= 40% O2|NCI|N|
C4686147|Severe or medically significant but not immediately life-threatening; hospitalization or prolongation of existing hospitalization indicated; IV intervention indicated|NCI|N|
C4686148|Severe and acute confusional state; limiting self care ADL; urgent intervention indicated; new onset|NCI|N|
C4686149|Severe delusional symptoms; hospitalization not indicated; new onset|NCI|N|
C4686150|Dental caries resulting in pulpitis or periapical abscess or resulting in tooth loss|NCI|N|
C4686151|Difficult to arouse|NCI|N|
C4686152|Moist desquamation in areas other than skin folds and creases; bleeding induced by minor trauma or abrasion|NCI|N|
C4686153|IV antibiotic, antifungal, or antiviral intervention indicated; invasive intervention indicated|NCI|N|
C4686154|Symptomatic with marked decrease in visual acuity (best corrected visual acuity worse than 20/40 or more than 3 lines of decreased vision from known baseline, up to 20/200); limiting self care ADL|NCI|N|
C4686155|Inability to adequately aliment orally; tube feeding or TPN indicated; unstimulated saliva <0.1 ml/min|NCI|N|
C4686156|Transfusion indicated; invasive intervention indicated; hospitalization|NCI|N|
C4686157|IV antibiotic, antifungal, or antiviral intervention indicated; invasive intervention indicated|NCI|N|
C4686158|Hospitalization indicated; invasive intervention indicated|NCI|N|
C4686159|Invasive intervention indicated|NCI|N|
C4686160|Severely altered GI function; TPN indicated; elective invasive intervention indicated; limiting self care ADL|NCI|N|
C4686161|Severe impairment of articulation or slurred speech|NCI|N|
C4686162|Severe sensory alteration; limiting self care ADL|NCI|N|
C4686163|Severe symptoms; limiting self care ADL|NCI|N|
C4686164|Severe discomfort or pain associated with vaginal penetration; discomfort or pain unrelieved by vaginal lubricants or estrogen|NCI|N|
C4686165|Severe symptoms; operative intervention indicated|NCI|N|
C4686166|Severe receptive or expressive characteristics; impairing ability to read, write or communicate intelligibly|NCI|N|
C4686167|Severe or medically significant but not immediately life-threatening; hospitalization or prolongation of existing hospitalization indicated; limiting self care ADL|NCI|N|
C4686168|Severe pain; limiting self care ADL|NCI|N|
C4686169|Severe or medically significant but not immediately life-threatening; IV intervention indicated|NCI|N|
C4686170|New onset; worsening from baseline|NCI|N|
C4686171|Severe swelling; limiting self care ADL|NCI|N|
C4686172|>30% inter-limb discrepancy in volume; gross deviation from normal anatomic contour; limiting self care ADL|NCI|N|
C4686173|Gross deviation from normal anatomic contour; limiting self care ADL|NCI|N|
C4686174|Resting ejection fraction (EF) 39-20%; >=20% drop from baseline|NCI|N|
C4686175|Average QTc >= 501 ms; >60 ms change from baseline|NCI|N|
C4686176|IV antibiotic, antifungal, or antiviral intervention indicated; severe changes in mental status; self-limited seizure activity; focal neurologic abnormalities|NCI|N|
C4686177|IV antibiotic, antifungal, or antiviral intervention indicated; invasive intervention indicated|NCI|N|
C4686178|IV antibiotic, antifungal, or antiviral intervention indicated; invasive intervention indicated|NCI|N|
C4686179|Severe or medically significant but not immediately life-threatening; hospitalization or prolongation of existing hospitalization indicated; limiting self care ADL|NCI|N|
C4686180|Systemic intervention; hospitalization indicated|NCI|N|
C4686181|IV antibiotic, antifungal, or antiviral intervention indicated; invasive intervention indicated; profuse watery diarrhea with signs of hypovolemia; bloody diarrhea; fever; severe abdominal pain; hospitalization indicated|NCI|N|
C4686182|Severe or persistent abdominal pain; fever; ileus; peritoneal signs|NCI|N|
C4686183|Invasive intervention indicated|NCI|N|
C4686184|Steroids initiated|NCI|N|
C4686185|Transfusion; invasive intervention indicated (e.g., hemostasis of bleeding site)|NCI|N|
C4686186|Severe or medically significant but not immediately life-threatening; hospitalization or prolongation of existing hospitalization indicated; IV intervention indicated|NCI|N|
C4686187|Target lesions covering >30% BSA and associated with oral or genital erosions|NCI|N|
C4686188|Erythema covering >90% BSA with associated symptoms (e.g., pruritus or tenderness); limiting self care ADL|NCI|N|
C4686189|Severe symptoms; invasive intervention indicated|NCI|N|
C4686190|Transfusion indicated; invasive intervention indicated; hospitalization|NCI|N|
C4686191|IV antibiotic, antifungal, or antiviral intervention indicated; invasive intervention indicated|NCI|N|
C4686192|Inability to aliment adequately by GI tract; invasive intervention indicated|NCI|N|
C4686193|Hospitalization indicated; invasive intervention indicated; limiting self care ADL|NCI|N|
C4686194|Severe pain; limiting self care ADL|NCI|N|
C4686195|Invasive intervention indicated|NCI|N|
C4686196|Severely altered GI function; tube feeding or hospitalization indicated; elective operative intervention indicated|NCI|N|
C4686197|Severely altered GI function; TPN indicated; elective invasive intervention indicated; limiting self care ADL|NCI|N|
C4686198|Bilateral paresis or unilateral paresis causing double vision in peripheral gaze, but not in central gaze|NCI|N|
C4686199|Severe involuntary movements or torticollis; limiting self care ADL|NCI|N|
C4686200|Severe or medically significant but not immediately sight-threatening; limiting self care ADL; decrease in visual acuity (best corrected visual acuity worse than 20/40 or more than 3 lines of decreased vision from known baseline, up to 20/200)|NCI|N|
C4686201|IV antibiotic, antifungal, or antiviral intervention indicated; invasive intervention indicated|NCI|N|
C4686202|Limiting self care ADL; operative intervention indicated|NCI|N|
C4686203|Severe symptoms; limiting self care ADL|NCI|N|
C4686204|Severe symptoms; limiting self care ADL|NCI|N|
C4686205|Severe pain; limiting self care ADL|NCI|N|
C4686206|Hospitalization indicated; invasive intervention indicated|NCI|N|
C4686207|Severe symptoms; invasive intervention indicated|NCI|N|
C4686208|Covering >30% BSA; associated with erythema or tenderness; limiting self-care ADL|NCI|N|
C4686209|<5% percentile of weight for gestational age|NCI|N|
C4686210|>40.0 degrees C (>104.0 degrees F) for <=24 hrs|NCI|N|
C4686211|<0.5-0.25 x LLN; if abnormal, 50-<75% decrease from baseline|NCI|N|
C4686212|Severe induration; unable to slide or pinch skin; limiting joint or orifice movement (e.g., mouth, anus); limiting self care ADL|NCI|N|
C4686213|Severe pain; limiting self care ADL|NCI|N|
C4686214|Limiting self care ADL|NCI|N|
C4686215|Limiting self care ADL|NCI|N|
C4686216|Severe symptoms; limiting self care ADL|NCI|N|
C4686217|Symptomatic, associated with hypotension and/or tachycardia; limiting self care ADL|NCI|N|
C4686218|>30% BSA; systemic intervention indicated|NCI|N|
C4686219|50-59%|NCI|N|
C4686220|Severe or medically significant but not immediately life-threatening; hospitalization or prolongation of existing hospitalization indicated|NCI|N|
C4686221|Limiting self care ADL|NCI|N|
C4686222|IV antibiotic, antifungal, or antiviral intervention indicated; invasive intervention indicated|NCI|N|
C4686223|Severe symptoms; invasive intervention indicated|NCI|N|
C4686224|Invasive intervention indicated|NCI|N|
C4686225|Transfusion indicated; invasive intervention indicated; hospitalization|NCI|N|
C4686226|Inability to aliment adequately by GI tract; invasive intervention indicated|NCI|N|
C4686227|Invasive intervention indicated|NCI|N|
C4686228|Severely altered GI function; tube feeding or hospitalization indicated; elective operative intervention indicated|NCI|N|
C4686229|Severely altered GI function; TPN indicated; elective invasive intervention indicated; limiting self care ADL|NCI|N|
C4686230|Severe symptoms; operative intervention indicated|NCI|N|
C4686231|Severe symptoms; invasive intervention indicated|NCI|N|
C4686232|Severe or medically significant but not immediately life-threatening; hospitalization or prolongation of existing hospitalization indicated; limiting self care ADL|NCI|N|
C4686233|Invasive intervention indicated|NCI|N|
C4686234|Severe pain; limiting self care ADL|NCI|N|
C4686235|Severe symptoms; hospitalization indicated; elective operative intervention indicated|NCI|N|
C4686236|Weight loss >=20% from baseline; tube feeding or TPN indicated; elective operative intervention indicated|NCI|N|
C4686237|Interferes with self care ADL; intravenous therapy indicated; skin breakdown|NCI|N|
C4686238|Limiting self care ADL|NCI|N|
C4686239|Lymphorrhea; gross deviation from normal anatomic contour; limiting self care ADL|NCI|N|
C4686240|>5.0-20.0 x ULN if baseline was normal; >5.0-20.0 x baseline if baseline was abnormal|NCI|N|
C4686241|Severe pain; inability to aliment orally|NCI|N|
C4686242|Severe symptoms; limiting self care ADL|NCI|N|
C4686243|Severe symptoms; insulin indicated|NCI|N|
C4686244|Reduction in growth velocity of >=50% ideally measured over the period of a year|NCI|N|
C4686245|Severe symptoms; limiting self care ADL|NCI|N|
C4686246|IV antibiotic, antifungal, or antiviral intervention indicated; invasive intervention indicated|NCI|N|
C4686247|Severe hallucinations; hospitalization not indicated|NCI|N|
C4686248|Severe pain; limiting self care ADL|NCI|N|
C4686249|Adults enrolled on a Monitoring Program (on a 1, 2, 3, 4, 6, and 8 kHz audiogram): Threshold shift of >25 dB averaged at 3 contiguous test frequencies in at least one ear; therapeutic intervention indicated; Adults not enrolled on a Monitoring Program: Hearing loss with hearing aid or intervention indicated; limiting self care ADL; Pediatric (on a 1, 2, 3, 4, 6, and 8 kHz audiogram): Hearing loss sufficient to indicate therapeutic intervention, including hearing aids; threshold shift >20 dB at 2 to < 4 kHz in at least one ear|NCI|N|
C4686250|Symptoms at rest or with minimal activity or exertion; hospitalization; new onset of symptoms|NCI|N|
C4686251|Transfusion indicated; invasive intervention indicated|NCI|N|
C4686252|Gross hematuria; transfusion, IV medications, or hospitalization indicated; elective invasive intervention indicated; limiting self care ADL|NCI|N|
C4686253|Increase in >4 g/dL|NCI|N|
C4686254|Laboratory findings with clinical consequences (e.g., renal insufficiency, petechiae)|NCI|N|
C4686255|Transfusion indicated; invasive intervention indicated; hospitalization|NCI|N|
C4686256|Asterixis; mild encephalopathy; drug-induced liver injury (DILI); limiting self care ADL|NCI|N|
C4686257|Transfusion indicated; invasive intervention indicated; hospitalization|NCI|N|
C4686258|IV antibiotic, antifungal, or antiviral intervention indicated; invasive intervention indicated|NCI|N|
C4686259|Severe pain; limiting self care ADL|NCI|N|
C4686260|Severe or medically significant but not immediately life-threatening; hospitalization or prolongation of existing hospitalization indicated; IV intervention indicated|NCI|N|
C4686261|Symptomatic liver dysfunction; fibrosis by biopsy; compensated cirrhosis; hospitalization or prolongation of existing hospitalization indicated|NCI|N|
C4686262|Severe or medically significant but not immediately life-threatening; hospitalization or prolongation of existing hospitalization indicated; limiting self care ADL|NCI|N|
C4686263|Severe or medically significant but not immediately life-threatening; hospitalization or prolongation of existing hospitalization indicated; IV intervention indicated|NCI|N|
C4686264|Severe symptoms; interfering with sleep; limiting self care ADL|NCI|N|
C4686265|Severe pain; hospitalization or intervention indicated for pain control (e.g., traction); operative intervention indicated|NCI|N|
C4686266|Severe voice changes including predominantly whispered speech|NCI|N|
C4686267|Severe symptoms; limiting self care ADL|NCI|N|
C4686268|Corrected serum calcium of >12.5-13.5 mg/dL; >3.1-3.4 mmol/L; Ionized calcium >1.6-1.8 mmol/L; hospitalization indicated|NCI|N|
C4686269|Insulin therapy initiated; hospitalization indicated|NCI|N|
C4686270|Associated with electrolyte/hemodynamic imbalance|NCI|N|
C4686271|>6.0-7.0 mmol/L; hospitalization indicated|NCI|N|
C4686272|Limiting self-care ADLs|NCI|N|
C4686273|Hospitalization; pancreatitis|NCI|N|
C4686274|>3.0-8.0 mg/dL; >1.23-3.30 mmol/L|NCI|N|
C4686275|>155-160 mmol/L; hospitalization indicated|NCI|N|
C4686276|Severe or medically significant but not immediately life-threatening; hospitalization or prolongation of existing hospitalization indicated|NCI|N|
C4686277|Severe increased need for sleep|NCI|N|
C4686278|Severe symptoms; limiting self care ADL; hospitalization indicated|NCI|N|
C4686279|>500 mg/dL-1000 mg/dL; >5.7 mmol/L-11.4 mmol/L|NCI|N|
C4686280|>ULN with physiologic consequences|NCI|N|
C4686281|<2 g/dL; <20 g/L|NCI|N|
C4686282|Corrected serum calcium of <7.0-6.0 mg/dL; <1.75-1.5 mmol/L; Ionized calcium <0.9-0.8 mmol/L; hospitalization indicated|NCI|N|
C4686283|Severe symptoms; limiting self care ADL|NCI|N|
C4686284|<40-30 mg/dL; <2.2-1.7 mmol/L|NCI|N|
C4686285|Increase in body temperature; limiting self care ADL|NCI|N|
C4686286|<3.0-2.5 mmol/L; hospitalization indicated|NCI|N|
C4686287|<0.9-0.7 mg/dL; <0.4-0.3 mmol/L|NCI|N|
C4686288|125-129 mmol/L symptomatic; 120-124 mmol/L regardless of symptoms|NCI|N|
C4686289|Severe symptoms; medical intervention or hospitalization indicated|NCI|N|
C4686290|Severe or medically significant but not immediately life-threatening; hospitalization or prolongation of existing hospitalization indicated; limiting self care ADL|NCI|N|
C4686291|Severe or medically significant but not immediately life-threatening; hospitalization or prolongation of existing hospitalization indicated; limiting self care ADL|NCI|N|
C4686292|Severe symptoms; limiting self care ADL; hospitalization indicated|NCI|N|
C4686293|Invasive intervention indicated|NCI|N|
C4686294|Severely altered GI function; tube feeding or hospitalization indicated; elective operative intervention indicated|NCI|N|
C4686295|Severe or medically significant but not immediately life-threatening; hospitalization or prolongation of existing hospitalization indicated; limiting self care ADL|NCI|N|
C4686296|Severe or medically significant but not immediately life-threatening; hospitalization or prolongation of existing hospitalization indicated; limiting self care ADL|NCI|N|
C4686297|IV antibiotic, antifungal, or antiviral intervention indicated; invasive intervention indicated|NCI|N|
C4686298|Prolonged (e.g., not rapidly responsive to symptomatic medication and/or brief interruption of infusion); recurrence of symptoms following initial improvement; hospitalization indicated for clinical sequelae|NCI|N|
C4686299|Ulceration or necrosis; severe tissue damage; operative intervention indicated|NCI|N|
C4686300|Ulceration or necrosis; severe tissue damage; operative intervention indicated|NCI|N|
C4686301|Severe symptoms; limiting self care ADL (e.g., transient cerebral ischemia); repair or revision indicated|NCI|N|
C4686302|Symptomatic limiting self care ADL; repair or revision indicated|NCI|N|
C4686303|Severe symptoms; limiting self care ADL; repair or revision indicated|NCI|N|
C4686304|Severe or medically significant but not immediately life-threatening; hospitalization or prolongation of existing hospitalization indicated; limiting self care ADL|NCI|N|
C4686305|>2.5; >2.5 x baseline if on anticoagulation; bleeding|NCI|N|
C4686306|Severe symptoms; invasive intervention indicated|NCI|N|
C4686307|Severe symptoms; IV fluids, tube feeding, or TPN indicated >=24 hrs; elective operative intervention indicated|NCI|N|
C4686308|Transfusion indicated; invasive intervention indicated|NCI|N|
C4686309|Transfusion indicated; invasive intervention indicated; hospitalization|NCI|N|
C4686310|Ventriculostomy, ICP monitoring, intraventricular thrombolysis, or invasive intervention indicated; hospitalization|NCI|N|
C4686311|Complete resection or reconstruction of injured organ/structure indicated; limiting self care ADL|NCI|N|
C4686312|Complete resection or reconstruction of injured organ/structure indicated; limiting self care ADL|NCI|N|
C4686313|Primary repair of injured organ/structure indicated|NCI|N|
C4686314|Complete resection or reconstruction of injured organ/structure indicated; limiting self care ADL (e.g., impaired hearing; impaired balance)|NCI|N|
C4686315|Complete resection or reconstruction of injured organ/structure indicated; limiting self care ADL|NCI|N|
C4686316|Complete resection or reconstruction of injured organ/structure indicated; limiting self care ADL|NCI|N|
C4686317|Complete resection or reconstruction of injured organ/structure indicated; limiting self care ADL|NCI|N|
C4686318|Postoperative invasive intervention indicated; hospitalization|NCI|N|
C4686319|Complete resection or reconstruction of injured organ/structure indicated; limiting self care ADL|NCI|N|
C4686320|Complete resection or reconstruction of injured organ/structure indicated; limiting self care ADL|NCI|N|
C4686321|Complete resection or reconstruction of injured organ/structure indicated; limiting self care ADL|NCI|N|
C4686322|Complete resection or reconstruction of injured organ/structure indicated; limiting self care ADL|NCI|N|
C4686323|Complete resection or reconstruction of injured organ/structure indicated; limiting self care ADL|NCI|N|
C4686324|Complete resection or reconstruction of injured organ/structure indicated; limiting self care ADL|NCI|N|
C4686325|Complete resection or reconstruction of injured organ/structure indicated; limiting self care ADL|NCI|N|
C4686326|Resection or reconstruction of injured organ/structure indicated; limiting self care ADL|NCI|N|
C4686327|Complete resection or reconstruction of injured organ/structure indicated; limiting self care ADL|NCI|N|
C4686328|Complete resection or reconstruction of injured organ/structure indicated; limiting self care ADL|NCI|N|
C4686329|Severe or medically significant but not immediately life-threatening; hospitalization or prolongation of existing hospitalization indicated; limiting self care ADL|NCI|N|
C4686330|Severe abnormal or excessive response; limiting self care ADL; inconsolable; medical or psychiatric intervention indicated|NCI|N|
C4686331|Invasive intervention indicated|NCI|N|
C4686332|Severely altered GI function; tube feeding or hospitalization indicated; elective operative intervention indicated|NCI|N|
C4686333|Arthroscopic intervention indicated (e.g., drainage) or arthrotomy (e.g., open surgical drainage)|NCI|N|
C4686334|Ankylosed/fused over multiple segments with no C-spine rotation|NCI|N|
C4686335|<50% lumbar spine flexion; associated with symptoms of ankylosis or fused over multiple segments with no L-spine flexion (e.g., unable to reach to floor to pick up a very light object)|NCI|N|
C4686336|>50% decrease in ROM; limiting self care ADL|NCI|N|
C4686337|Severe symptoms; invasive intervention indicated|NCI|N|
C4686338|IV antibiotic, antifungal, or antiviral intervention indicated; invasive intervention indicated|NCI|N|
C4686339|Severe accentuation; operative intervention indicated; limiting self care ADL|NCI|N|
C4686340|Severe symptoms; invasive intervention indicated|NCI|N|
C4686341|Stridor; respiratory distress; hospitalization indicated|NCI|N|
C4686342|Severe throat pain; endoscopic intervention indicated|NCI|N|
C4686343|Severe pain; severely altered eating/swallowing; medical intervention indicated|NCI|N|
C4686344|Limiting self care ADL; stridor; endoscopic intervention indicated (e.g., stent, laser)|NCI|N|
C4686345|Limiting self care ADL; stridor; endoscopic intervention indicated (e.g., stent, laser)|NCI|N|
C4686346|IV antibiotic, antifungal, or antiviral intervention indicated; invasive intervention indicated|NCI|N|
C4686347|Severe symptoms; dyspnea and swallowing difficulty; limiting self care ADL|NCI|N|
C4686348|Recurrent episodes; noninvasive intervention indicated (e.g., breathing technique, pressure point massage)|NCI|N|
C4686349|>100,000/mm3|NCI|N|
C4686350|Severe symptoms; extensive T2/FLAIR hyperintensities, involving periventricular white matter involving 2/3 or more of susceptible areas of cerebrum +/- moderate to severe increase in SAS and/or moderate to severe ventriculomegaly|NCI|N|
C4686351|IV antibiotic, antifungal, or antiviral intervention indicated; invasive intervention indicated|NCI|N|
C4686352|>2.0-5.0 x ULN with signs or symptoms; >5.0 x ULN and asymptomatic|NCI|N|
C4686353|Covering >30% BSA and associated tenderness and narcotics or NSAIDs indicated; lipohypertrophy; limiting self care ADL|NCI|N|
C4686354|Severe localized edema and intervention indicated; limiting self care ADL|NCI|N|
C4686355|Severe accentuation; operative intervention indicated; limiting self care ADL|NCI|N|
C4686356|Transfusion indicated; invasive intervention indicated; hospitalization|NCI|N|
C4686357|IV antibiotic, antifungal, or antiviral intervention indicated; invasive intervention indicated|NCI|N|
C4686358|IV antibiotic, antifungal, or antiviral intervention indicated; invasive intervention indicated|NCI|N|
C4686359|Severe symptoms; invasive intervention indicated|NCI|N|
C4686360|Severe symptoms; limiting self care ADL|NCI|N|
C4686361|<500-200/mm3; <0.5-0.2 x 10e9/L|NCI|N|
C4686362|>20,000/mm3|NCI|N|
C4686363|Uneasiness or lack of well being limiting self-care ADL|NCI|N|
C4686364|Severe manic symptoms (e.g., hypomania; major sexual or financial indiscretions); hospitalization not indicated; new onset|NCI|N|
C4686365|IV antibiotic, antifungal, or antiviral intervention indicated; invasive intervention indicated|NCI|N|
C4686366|IV antibiotic, antifungal, or antiviral intervention indicated; invasive intervention indicated; focal neurologic deficit|NCI|N|
C4686367|Severe; transfusion indicated; operative intervention indicated (e.g., hysterectomy)|NCI|N|
C4686368|Severe or medically significant but not immediately life-threatening; hospitalization or prolongation of existing hospitalization indicated; limiting self care ADL|NCI|N|
C4686369|Requiring urgent intervention|NCI|N|
C4686370|Mastoiditis; necrosis of canal soft tissue or bone|NCI|N|
C4686371|Symptomatic; severe regurgitation or stenosis by imaging; symptoms controlled with medical intervention|NCI|N|
C4686372|Severe symptoms; limiting self care ADL|NCI|N|
C4686373|IV antibiotic, antifungal, or antiviral intervention indicated; invasive intervention indicated|NCI|N|
C4686374|Severe pain; interfering with oral intake|NCI|N|
C4686375|Shock with azotemia and acid-base disturbances; significant coagulation abnormalities|NCI|N|
C4686376|Severe pain; limiting self care ADL|NCI|N|
C4686377|Limiting self care ADL|NCI|N|
C4686378|Limiting self care ADL|NCI|N|
C4686379|Limiting self care ADL|NCI|N|
C4686380|Limiting self care ADL|NCI|N|
C4686381|Limiting self care ADL|NCI|N|
C4686382|Severe or medically significant but not immediately life-threatening; hospitalization or prolongation of existing hospitalization indicated; limiting self care ADL|NCI|N|
C4686383|Severe pain; limiting self care ADL|NCI|N|
C4686384|Severe or medically significant but not immediately life-threatening; hospitalization or prolongation of existing hospitalization indicated; limiting self care ADL|NCI|N|
C4686385|Severe symptoms; cardiac enzymes abnormal; hemodynamically stable; ECG changes consistent with infarction|NCI|N|
C4686386|IV antibiotic, antifungal, or antiviral intervention indicated; invasive intervention indicated|NCI|N|
C4686387|Associated with bloody nasal discharge or epistaxis|NCI|N|
C4686388|Generalized neck edema (e.g., difficulty in turning neck); limiting self care ADL|NCI|N|
C4686389|Severe or medically significant but not immediately life-threatening; hospitalization or prolongation of existing hospitalization indicated; limiting self care ADL|NCI|N|
C4686390|Not immediately life-threatening; hospitalization or prolongation of existing hospitalization indicated; limiting self care ADL|NCI|N|
C4686391|Severe or medically significant but not immediately life-threatening; hospitalization or prolongation of existing hospitalization indicated; limiting self care ADL|NCI|N|
C4686392|Severe pain; limiting self care ADL|NCI|N|
C4686393|<1000-500/mm3; <1.0-0.5 x 10e9/L|NCI|N|
C4686394|Symptomatic with marked decrease in visual acuity (best corrected visual acuity worse than 20/40 or more than 3 lines of decreased vision from known baseline, up to 20/200); limiting self care ADL|NCI|N|
C4686395|Severe pain; limiting self care ADL|NCI|N|
C4686396|Hospitalization indicated; invasive intervention indicated; limiting self care ADL|NCI|N|
C4686397|Severe symptoms; limiting self care ADL|NCI|N|
C4686398|Severe symptoms; limiting self care ADL|NCI|N|
C4686399|Marked decrease in visual acuity (best corrected visual acuity worse than 20/40 or more than 3 lines of decreased vision from known baseline, up to 20/200)|NCI|N|
C4686400|Invasive intervention indicated|NCI|N|
C4686401|Disabling pain; tube feeding or TPN indicated|NCI|N|
C4686402|Severe pain; severely altered eating/swallowing; narcotics initiated; requires parenteral nutrition|NCI|N|
C4686403|Severe symptoms; limiting self care ADL; elective operative intervention indicated|NCI|N|
C4686404|IV antibiotic, antifungal, or antiviral intervention indicated; invasive intervention indicated|NCI|N|
C4686405|IV antibiotic, antifungal, or antiviral intervention indicated; invasive intervention indicated|NCI|N|
C4686406|IV antibiotic, antifungal, or antiviral intervention indicated; invasive intervention indicated|NCI|N|
C4686407|Transfusion; invasive intervention indicated|NCI|N|
C4686408|Severe pain; limiting self care ADL|NCI|N|
C4686409|Severe pain; limiting self care ADL|NCI|N|
C4686410|Severe pain; limiting self care ADL|NCI|N|
C4686411|Severe skin changes (e.g., peeling, blisters, bleeding, fissures, edema, or hyperkeratosis) with pain; limiting self care ADL|NCI|N|
C4686412|IV antibiotic, antifungal, or antiviral intervention indicated; invasive intervention indicated|NCI|N|
C4686413|Severe symptoms; invasive intervention indicated|NCI|N|
C4686414|Severely altered GI function; tube feeding or hospitalization indicated; elective operative intervention indicated|NCI|N|
C4686415|Sequelae of absorption deficiency|NCI|N|
C4686416|Tube feeding or TPN indicated; invasive intervention indicated|NCI|N|
C4686417|Symptomatic with marked decrease in visual acuity (best corrected visual acuity worse than 20/40 or more than 3 lines of decreased vision from known baseline, up to 20/200)|NCI|N|
C4686418|Papules and/or pustules covering >30% BSA with moderate or severe symptoms; limiting self-care ADL; IV antibiotics indicated|NCI|N|
C4686419|Severe symptoms; limiting self care ADL|NCI|N|
C4686420|Operative intervention indicated; IV antibiotics indicated; limiting self care ADL|NCI|N|
C4686421|Severe symptoms; limiting self care ADL|NCI|N|
C4686422|IV antibiotic, antifungal, or antiviral intervention indicated; invasive intervention indicated|NCI|N|
C4686423|Severe pain; limiting self care ADL|NCI|N|
C4686424|IV antibiotic, antifungal, or antiviral intervention indicated; invasive intervention indicated|NCI|N|
C4686425|Invasive intervention indicated|NCI|N|
C4686426|Effusion with physiologic consequences|NCI|N|
C4686427|Severe pain; limiting self care ADL|NCI|N|
C4686428|Edema associated with visual disturbance; increased intraocular pressure, glaucoma or retinal hemorrhage; optic neuritis; diuretics indicated; operative intervention indicated|NCI|N|
C4686429|IV antibiotic, antifungal, or antiviral intervention indicated; invasive intervention indicated|NCI|N|
C4686430|Prolonged (>=24 hrs) or recurring symptoms and/or invasive intervention indicated|NCI|N|
C4686431|Severe symptoms; limiting self care ADL|NCI|N|
C4686432|IV antibiotic, antifungal, or antiviral intervention indicated; invasive intervention indicated|NCI|N|
C4686433|Severe symptoms; limiting self care ADL|NCI|N|
C4686434|IV antibiotic, antifungal, or antiviral intervention indicated; invasive intervention indicated|NCI|N|
C4686435|Severe personality change; hospitalization not indicated|NCI|N|
C4686436|Severe pain; limiting self care ADL|NCI|N|
C4686437|Severe symptoms; invasive intervention indicated|NCI|N|
C4686438|Severe pain; unable to adequately aliment or hydrate orally; limiting self care ADL|NCI|N|
C4686439|Limiting self care ADL; stridor; endoscopic intervention indicated (e.g., stent, laser)|NCI|N|
C4686440|IV antibiotic, antifungal, or antiviral intervention indicated; invasive intervention indicated|NCI|N|
C4686441|Severe pain; limiting self care ADL|NCI|N|
C4686442|IV antibiotic, antifungal, or antiviral intervention indicated; invasive intervention indicated|NCI|N|
C4686443|<50,000-25,000/mm3; <50.0-25.0 x 10e9/L|NCI|N|
C4686444|Symptomatic with respiratory distress and hypoxia; operative intervention including chest tube or pleurodesis indicated|NCI|N|
C4686445|IV antibiotic, antifungal, or antiviral intervention indicated; invasive intervention indicated|NCI|N|
C4686446|Severe pain; limiting self care ADL|NCI|N|
C4686447|Severe symptoms; limiting self care ADL; oxygen indicated|NCI|N|
C4686448|Reversal/retrograde portal vein flow; associated with varices and/or ascites|NCI|N|
C4686449|Medical intervention indicated|NCI|N|
C4686450|Transfusion indicated of >=2 units (10 cc/kg for pediatrics) pRBCs; invasive intervention indicated; hospitalization|NCI|N|
C4686451|Extubated >72 hrs postoperatively, but before tracheostomy indicated|NCI|N|
C4686452|Severe or medically significant but not immediately life-threatening; hospitalization or prolongation of existing hospitalization indicated; limiting self care ADL|NCI|N|
C4686453|Delivery of a liveborn infant at 24 to 28 weeks gestation|NCI|N|
C4686454|Persistent or copious production of sputum; limiting self care ADL|NCI|N|
C4686455|Severe symptoms; elective operative intervention indicated; limiting self care ADL|NCI|N|
C4686456|Dysfunctional stoma; elective operative intervention or major stomal revision indicated|NCI|N|
C4686457|IV antibiotic, antifungal, or antiviral intervention indicated; invasive intervention indicated|NCI|N|
C4686458|Severe pain; limiting self care ADL|NCI|N|
C4686459|Severe or medically significant but not immediately life-threatening; limiting self care ADL|NCI|N|
C4686460|Severe psychotic symptoms (e.g., paranoid, extreme disorganization); hospitalization not indicated; new onset|NCI|N|
C4686461|Severe dyspnea or dyspnea at rest; oxygen indicated; limiting self care ADL|NCI|N|
C4686462|Severe hypoxia; evidence of right-sided heart failure; radiographic pulmonary fibrosis >50-75%|NCI|N|
C4686463|Invasive intervention indicated|NCI|N|
C4686464|Symptomatic; severe regurgitation or stenosis by imaging; symptoms controlled with medical intervention|NCI|N|
C4686465|Combined area of lesions covering >30% BSA; spontaneous bleeding|NCI|N|
C4686466|Severe symptoms; limiting self care ADL|NCI|N|
C4686467|Moist desquamation in areas other than skin folds and creases; bleeding induced by minor trauma or abrasion|NCI|N|
C4686468|Severe symptoms; limiting self care ADL|NCI|N|
C4686469|Papules and/or pustules covering >30% BSA with moderate or severe symptoms; limiting self-care ADL; associated with local superinfection with oral antibiotics indicated|NCI|N|
C4686470|Macules/papules covering >30% BSA with moderate or severe symptoms; limiting self care ADL|NCI|N|
C4686471|IV antibiotic, antifungal, or antiviral intervention indicated; invasive intervention indicated|NCI|N|
C4686472|Severe symptoms; invasive intervention indicated|NCI|N|
C4686473|Invasive intervention indicated|NCI|N|
C4686474|Severe symptoms; limiting self care ADL|NCI|N|
C4686475|Severe pain; limiting self care ADL|NCI|N|
C4686476|Severely altered GI function; tube feeding or hospitalization indicated; elective operative intervention indicated|NCI|N|
C4686477|Severe symptoms; medical intervention indicated (e.g., thyroplasty, vocal cord injection)|NCI|N|
C4686478|Severe or medically significant but not immediately life-threatening; hospitalization or prolongation of existing hospitalization indicated; limiting self care ADL|NCI|N|
C4686479|Hospitalization indicated; IV intervention (e.g., analgesics, antiemetics); elective invasive intervention indicated|NCI|N|
C4686480|Hospitalization indicated; limiting self care ADL|NCI|N|
C4686481|Severe or medically significant but not immediately life-threatening; hospitalization or prolongation of existing hospitalization indicated; limiting self care ADL|NCI|N|
C4686482|Severe or medically significant but not immediately life-threatening; hospitalization or prolongation of existing hospitalization indicated; limiting self care ADL|NCI|N|
C4686483|Severe symptoms; limiting self care ADL|NCI|N|
C4686484|Retinal vascular disorder with neovascularization|NCI|N|
C4686485|Transfusion indicated; invasive intervention indicated; hospitalization|NCI|N|
C4686486|Severe symptoms; limiting self care ADL; hospitalization|NCI|N|
C4686487|Symptomatic, urgent intervention indicated|NCI|N|
C4686488|Severe or medically significant but not immediately life-threatening; hospitalization or prolongation of existing hospitalization indicated; limiting self care ADL|NCI|N|
C4686489|Acute salivary gland necrosis; severe secretion-induced symptoms (e.g., thick saliva/oral secretions or gagging); tube feeding or TPN indicated; limiting self care ADL|NCI|N|
C4686490|IV antibiotic, antifungal, or antiviral intervention indicated; invasive intervention indicated|NCI|N|
C4686491|Symptomatic with marked decrease in visual acuity (best corrected visual acuity worse than 20/40 or more than 3 lines of decreased vision from known baseline, up to 20/200); limiting self care ADL|NCI|N|
C4686492|>45 degrees; scapular prominence in forward flexion; operative intervention indicated; limiting self care ADL|NCI|N|
C4686493|IV antibiotic, antifungal, or antiviral intervention indicated; invasive intervention indicated|NCI|N|
C4686494|Severe pain; limiting self care ADL|NCI|N|
C4686495|Blood culture positive with signs or symptoms; treatment indicated|NCI|N|
C4686496|>2.0-5.0 x ULN with signs or symptoms; >5.0 x ULN and asymptomatic|NCI|N|
C4686497|Severe or medically significant but not immediately life-threatening; hospitalization or prolongation of existing hospitalization indicated; IV intervention indicated; limiting self-care ADL|NCI|N|
C4686498|Stenosis with significant nasal obstruction; limiting self care ADL|NCI|N|
C4686499|IV antibiotic, antifungal, or antiviral intervention indicated; invasive intervention indicated|NCI|N|
C4686500|Severe or medically significant but not immediately life-threatening; hospitalization or prolongation of existing hospitalization indicated; limiting self care ADL|NCI|N|
C4686501|Covering >30% BSA; associated with ulceration|NCI|N|
C4686502|Severe induration; unable to slide or pinch skin; limiting joint or orifice movement (e.g., mouth, anus); limiting self care ADL|NCI|N|
C4686503|IV antibiotic, antifungal, or antiviral intervention indicated; invasive intervention indicated|NCI|N|
C4686504|Combined area of ulcers >2 cm; full-thickness skin loss involving damage to or necrosis of subcutaneous tissue that may extend down to fascia|NCI|N|
C4686505|Oxygen desaturation; associated with pulmonary hypertension; medical intervention indicated; limiting self care ADL|NCI|N|
C4686506|Severe symptoms; invasive intervention indicated|NCI|N|
C4686507|Severe pain; interfering with oral intake; tube feeding, TPN or hospitalization indicated; limiting self care ADL|NCI|N|
C4686508|Hospitalization indicated; invasive intervention indicated; limiting self care ADL|NCI|N|
C4686509|Invasive intervention indicated|NCI|N|
C4686510|Symptomatic and severely altered GI function; tube feeding, TPN or hospitalization indicated; non-emergent operative intervention indicated|NCI|N|
C4686511|IV antibiotic, antifungal, or antiviral intervention indicated; invasive intervention indicated|NCI|N|
C4686512|Severely altered GI function; TPN indicated; elective invasive intervention indicated; limiting self care ADL|NCI|N|
C4686513|Severe or medically significant but not immediately life-threatening; hospitalization or prolongation of existing hospitalization indicated; limiting self care ADL|NCI|N|
C4686514|IV antibiotic, antifungal, or antiviral intervention indicated; invasive intervention indicated|NCI|N|
C4686515|Operative debridement or other invasive intervention indicated (e.g., tissue reconstruction, flap, or grafting)|NCI|N|
C4686516|Operative debridement or other invasive intervention indicated (e.g., tissue reconstruction, flap, or grafting)|NCI|N|
C4686517|Obtundation or stupor|NCI|N|
C4686518|Severe pain; limiting self care ADL; limiting ability to swallow|NCI|N|
C4686519|Severe increase in muscle tone and increase in resistance through range of motion|NCI|N|
C4686520|Severe symptoms; invasive intervention indicated|NCI|N|
C4686521|Severe symptoms; limiting self care ADL|NCI|N|
C4686522|Severe back pain; hospitalization or intervention indicated for pain control (e.g., vertebroplasty); limiting self care ADL; disability|NCI|N|
C4686523|IV antibiotic, antifungal, or antiviral intervention indicated; invasive intervention indicated|NCI|N|
C4686524|Severely altered GI function; tube feeding, TPN or hospitalization indicated; elective operative intervention indicated|NCI|N|
C4686525|Skin sloughing covering <10% BSA with associated signs (e.g., erythema, purpura, epidermal detachment, and mucous membrane detachment)|NCI|N|
C4686526|IV antibiotic, antifungal, or antiviral intervention indicated; invasive intervention indicated|NCI|N|
C4686527|Severe symptoms; elective operative intervention indicated|NCI|N|
C4686528|Respiratory distress limiting self care ADL; medical intervention indicated|NCI|N|
C4686529|Severe neurologic deficit; limiting self care ADL; hospitalization|NCI|N|
C4686530|Severe or medically significant but not immediately life-threatening; hospitalization or prolongation of existing hospitalization indicated; limiting self care ADL|NCI|N|
C4686531|Specific plan to commit suicide without serious intent to die which may not require hospitalization|NCI|N|
C4686532|Suicide attempt or gesture without intent to die|NCI|N|
C4686533|Severe induration; unable to slide or pinch skin; limiting joint or orifice movement (e.g., mouth, anus); limiting self care ADL|NCI|N|
C4686534|Severe symptoms; multi-modality intervention indicated (e.g., anticoagulation, chemotherapy, radiation, stenting)|NCI|N|
C4686535|Severe or medically significant but not immediately life-threatening; hospitalization or prolongation of existing hospitalization indicated; limiting self care ADL|NCI|N|
C4686536|Absence of all reflexes|NCI|N|
C4686537|Severe symptoms; interfering with sexual function; limiting self care ADL; intervention indicated|NCI|N|
C4686538|Severe pain; limiting self care ADL|NCI|N|
C4686539|Urgent medical intervention indicated (e.g., pulmonary embolism or intracardiac thrombus)|NCI|N|
C4686540|Laboratory findings with clinical consequences (e.g., renal insufficiency, petechiae)|NCI|N|
C4686541|IV antifungal intervention indicated|NCI|N|
C4686542|Maldevelopment with impairment not surgically correctable; limiting self care ADL|NCI|N|
C4686543|IV antibiotic, antifungal, or antiviral intervention indicated; invasive intervention indicated|NCI|N|
C4686544|Severe pain; limiting self care ADL|NCI|N|
C4686545|Severe pain; hemorrhage or respiratory symptoms; limiting self care ADL|NCI|N|
C4686546|Stridor or respiratory distress limiting self care ADL; invasive intervention indicated (e.g., stent, laser)|NCI|N|
C4686547|IV antibiotic, antifungal, or antiviral intervention indicated; invasive intervention indicated|NCI|N|
C4686548|Transfusion indicated; invasive intervention indicated|NCI|N|
C4686549|Non life-threatening secondary malignancy|NCI|N|
C4686550|Symptomatic; severe regurgitation or stenosis; symptoms controlled with medical intervention|NCI|N|
C4686551|Severe symptoms; limiting self care ADL|NCI|N|
C4686552|Severe symptoms; limiting self care ADL|NCI|N|
C4686553|Transfusion indicated; invasive intervention indicated; hospitalization|NCI|N|
C4686554|Severe length discrepancy >5 cm; limiting self care ADL; operative intervention indicated|NCI|N|
C4686555|Transfusion indicated; invasive intervention indicated; hospitalization|NCI|N|
C4686556|IV antibiotic, antifungal, or antiviral intervention indicated; invasive intervention indicated|NCI|N|
C4686557|Severe symptoms; invasive intervention indicated|NCI|N|
C4686558|Severe symptoms; invasive intervention indicated|NCI|N|
C4686559|IV antibiotic, antifungal, or antiviral intervention indicated; invasive intervention indicated|NCI|N|
C4686560|Invasive intervention indicated|NCI|N|
C4686561|IV antibiotic, antifungal, or antiviral intervention indicated; invasive intervention indicated|NCI|N|
C4686562|Altered organ function (e.g., hydronephrosis or renal dysfunction); invasive intervention indicated|NCI|N|
C4686563|Severe pain; limiting self care ADL|NCI|N|
C4686564|Adult: Oliguria (<80 ml in 8 hr); Infants: < 0.5 mL/kg per hour for 24 hours; Children: < 500 mL/1.73 m2 body surface area per day|NCI|N|
C4686565|Severe symptoms; invasive intervention indicated|NCI|N|
C4686566|Altered organ function (e.g., sepsis or hydronephrosis, or renal dysfunction); elective operative intervention indicated|NCI|N|
C4686567|Transfusion indicated; invasive intervention indicated|NCI|N|
C4686568|Symptomatic (e.g., hydronephrosis, or renal dysfunction); elective operative intervention indicated|NCI|N|
C4686569|Severe symptoms; invasive intervention indicated|NCI|N|
C4686570|Invasive intervention indicated|NCI|N|
C4686571|IV antibiotic, antifungal, or antiviral intervention indicated; invasive intervention indicated|NCI|N|
C4686572|Severe symptoms; invasive intervention indicated|NCI|N|
C4686573|Invasive intervention indicated|NCI|N|
C4686574|Severe pain; Erythema > 10 cm; Induration/swelling > 10 cm; necrosis; limiting self care ADL|NCI|N|
C4686575|Severe symptoms; invasive intervention indicated|NCI|N|
C4686576|Severe vaginal dryness resulting in dyspareunia or severe discomfort|NCI|N|
C4686577|IV antibiotic, antifungal, or antiviral intervention indicated; invasive intervention indicated|NCI|N|
C4686578|Severe discomfort or pain, edema, or redness; limiting self care ADL; small areas of mucosal ulceration|NCI|N|
C4686579|Severe symptoms; invasive intervention indicated|NCI|N|
C4686580|Severe pain; limiting self care ADL|NCI|N|
C4686581|Invasive intervention indicated|NCI|N|
C4686582|Vaginal narrowing and/or shortening interfering with the use of tampons, sexual activity or physical examination|NCI|N|
C4686583|Severe symptoms; limiting self care ADL|NCI|N|
C4686584|Severe symptoms; invasive intervention indicated|NCI|N|
C4686585|Pulmonary embolism, deep vein or cardiac thrombosis; intervention indicated (e.g., anticoagulation, lysis, filter, invasive procedure)|NCI|N|
C4686586|Severe or medically significant but not immediately life-threatening; hospitalization or prolongation of existing hospitalization indicated; limiting self care ADL|NCI|N|
C4686587|Present|NCI|N|
C4686588|Severe symptoms; limiting self care ADL; repair or revision indicated|NCI|N|
C4686589|Urgent intervention indicated|NCI|N|
C4686590|Severe symptoms; limiting self care ADL|NCI|N|
C4686591|Severe or medically significant but not immediately life-threatening; hospitalization or prolongation of existing hospitalization indicated|NCI|N|
C4686592|Prolonged (>=24 hrs) or recurring symptoms and/or invasive intervention indicated|NCI|N|
C4686593|Marked decrease in visual acuity (best corrected visual acuity worse than 20/40 or more than 3 lines of decreased vision from known baseline, up to 20/200)|NCI|N|
C4686594|<50% of predicted value; limiting self care ADL|NCI|N|
C4686595|Severe voice changes including predominantly whispered speech; may require frequent repetition or face-to-face contact for understandability; may require assistive technology|NCI|N|
C4686596|IV antibiotic, antifungal, or antiviral intervention indicated; invasive intervention indicated|NCI|N|
C4686597|Marked decrease in visual acuity (best corrected visual acuity worse than 20/40 or more than 3 lines of decreased vision from known baseline, up to 20/200)|NCI|N|
C4686598|Severe respiratory symptoms limiting self care ADL; oxygen therapy or hospitalization indicated|NCI|N|
C4686599|<2000-1000/mm3; <2.0-1.0 x 10e9/L|NCI|N|
C4686600|Operative intervention indicated|NCI|N|
C4686601|Fascial disruption or dehiscence without evisceration; revision by operative intervention indicated|NCI|N|
C4686602|IV antibiotic, antifungal, or antiviral intervention indicated; invasive intervention indicated|NCI|N|
C4686603|Limiting self care ADL; elective operative intervention indicated requiring hospitalization|NCI|N|
C4686604|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686605|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686606|Life-threatening consequences|NCI|N|
C4686607|Life-threatening consequences; dialysis indicated|NCI|N|
C4686608|>20.0 x ULN if baseline was normal; >20.0 x baseline if baseline was abnormal|NCI|N|
C4686609|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686610|>20.0 x ULN if baseline was normal; >20.0 x baseline if baseline was abnormal|NCI|N|
C4686611|Life-threatening consequences|NCI|N|
C4686612|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686613|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686614|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686615|Life-threatening consequences; urgent operative intervention indicated|NCI|N|
C4686616|Life-threatening consequences; urgent operative intervention indicated|NCI|N|
C4686617|Life-threatening consequences; urgent operative intervention indicated|NCI|N|
C4686618|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686619|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686620|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686621|Life-threatening consequences; evidence of end organ damage; urgent operative intervention indicated|NCI|N|
C4686622|Life-threatening consequences; urgent intervention indicated (e.g., valve replacement, valvuloplasty)|NCI|N|
C4686623|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686624|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686625|Life-threatening consequences; evidence of end organ damage; urgent operative intervention indicated|NCI|N|
C4686626|Life-threatening consequences; hemodynamic or neurologic instability; organ damage; loss of extremity(ies)|NCI|N|
C4686627|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686628|Life-threatening consequences; urgent operative intervention indicated|NCI|N|
C4686629|>20.0 x ULN if baseline was normal; >20.0 x baseline if baseline was abnormal|NCI|N|
C4686630|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686631|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686632|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686633|Life-threatening consequences; urgent operative intervention indicated|NCI|N|
C4686634|Life-threatening consequences; urgent operative intervention indicated|NCI|N|
C4686635|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686636|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686637|Life-threatening consequences; urgent operative intervention indicated|NCI|N|
C4686638|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686639|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686640|>10.0 x ULN if baseline was normal; >10.0 x baseline if baseline was abnormal|NCI|N|
C4686641|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686642|Aplastic persistent for longer than 2 weeks|NCI|N|
C4686643|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686644|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686645|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686646|Life-threatening respiratory or hemodynamic compromise; intubation or urgent intervention indicated|NCI|N|
C4686647|Life-threatening respiratory or hemodynamic compromise; intubation or urgent intervention indicated|NCI|N|
C4686648|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686649|Life-threatening consequences; intubation or urgent intervention indicated|NCI|N|
C4686650|Life-threatening respiratory or hemodynamic compromise; intubation or urgent intervention indicated|NCI|N|
C4686651|Life-threatening consequences; moderate to severe encephalopathy; coma|NCI|N|
C4686652|Blisters covering >30% BSA; associated with fluid or electrolyte abnormalities; ICU care or burn unit indicated|NCI|N|
C4686653|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686654|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686655|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686656|Best corrected visual acuity of 20/200 or worse in the affected eye|NCI|N|
C4686657|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686658|<50/mm3; <0.05 x 10e9/L|NCI|N|
C4686659|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686660|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686661|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686662|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686663|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686664|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686665|>500 mg/dL; >12.92 mmol/L|NCI|N|
C4686666|eGFR or CrCl <15 ml/min/1.73 m2; dialysis or renal transplant indicated|NCI|N|
C4686667|Life-threatening consequences; urgent operative intervention indicated|NCI|N|
C4686668|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686669|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686670|Life-threatening consequences; urgent operative intervention indicated|NCI|N|
C4686671|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686672|Life-threatening consequences; urgent operative intervention indicated|NCI|N|
C4686673|Life-threatening consequences; urgent operative intervention indicated|NCI|N|
C4686674|Life-threatening consequences|NCI|N|
C4686675|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686676|Best corrected visual acuity of 20/200 or worse in the affected eye|NCI|N|
C4686677|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686678|Perforation in the affected eye|NCI|N|
C4686679|>10 x ULN|NCI|N|
C4686680|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686681|>6.0 x ULN|NCI|N|
C4686682|Life-threatening consequences; urgent invasive intervention indicated|NCI|N|
C4686683|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686684|Life-threatening consequences; urgent intervention indicated; blindness|NCI|N|
C4686685|Neonatal loss of life|NCI|N|
C4686686|Life-threatening consequences, threats of harm to self or others; urgent intervention indicated|NCI|N|
C4686687|Life-threatening consequences, threats of harm to self or others; hospitalization indicated|NCI|N|
C4686688|Life-threatening consequences; coma; urgent intervention indicated|NCI|N|
C4686689|Life-threatening consequences; skin necrosis or ulceration of full thickness dermis; spontaneous bleeding from involved site; skin graft indicated|NCI|N|
C4686690|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686691|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686692|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686693|Life-threatening consequences; urgent operative intervention indicated|NCI|N|
C4686694|Life-threatening consequences; urgent operative intervention indicated|NCI|N|
C4686695|Life-threatening consequences; urgent operative intervention indicated|NCI|N|
C4686696|Life-threatening consequences; urgent operative intervention indicated|NCI|N|
C4686697|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686698|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686699|Resting ejection fraction (EF) <20%|NCI|N|
C4686700|Torsade de pointes; polymorphic ventricular tachycardia; signs/symptoms of serious arrhythmia|NCI|N|
C4686701|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686702|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686703|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686704|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686705|Best corrected visual acuity of 20/200 or worse in the affected eye|NCI|N|
C4686706|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686707|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686708|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686709|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686710|Target lesions covering >30% BSA; associated with fluid or electrolyte abnormalities; ICU care or burn unit indicated|NCI|N|
C4686711|Erythema covering >90% BSA with associated fluid or electrolyte abnormalities; ICU care or burn unit indicated|NCI|N|
C4686712|Life-threatening consequences; urgent operative intervention indicated|NCI|N|
C4686713|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686714|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686715|Life-threatening consequences; urgent operative intervention indicated|NCI|N|
C4686716|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686717|Life-threatening consequences; urgent operative intervention indicated|NCI|N|
C4686718|Life-threatening consequences; urgent operative intervention indicated|NCI|N|
C4686719|Life-threatening consequences; urgent operative intervention indicated|NCI|N|
C4686720|Bilateral paresis requiring head turning to see beyond central 60 degrees or double vision in central gaze|NCI|N|
C4686721|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686722|Sight-threatening consequences; urgent intervention indicated; best corrected visual acuity of 20/200 or worse in the affected eye|NCI|N|
C4686723|Life-threatening consequences; urgent intervention indicated; enucleation|NCI|N|
C4686724|Life-threatening consequences; urgent operative intervention indicated|NCI|N|
C4686725|<1% percentile of weight for gestational age|NCI|N|
C4686726|>40.0 degrees C (>104.0 degrees F) for >24 hrs|NCI|N|
C4686727|<0.25 x LLN; if abnormal, 75% decrease from baseline; absolute value <50 mg/dL|NCI|N|
C4686728|Generalized; associated with signs or symptoms of impaired breathing or feeding|NCI|N|
C4686729|<=49%|NCI|N|
C4686730|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686731|Life-threatening consequences; urgent operative intervention indicated|NCI|N|
C4686732|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686733|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686734|Life-threatening consequences; urgent operative intervention indicated|NCI|N|
C4686735|Life-threatening consequences; urgent operative intervention indicated|NCI|N|
C4686736|Life-threatening consequences; urgent operative intervention indicated|NCI|N|
C4686737|Life-threatening consequences; urgent operative intervention indicated|NCI|N|
C4686738|Life-threatening consequences; urgent operative intervention indicated|NCI|N|
C4686739|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686740|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686741|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686742|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686743|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686744|Life-threatening consequences|NCI|N|
C4686745|>20.0 x ULN if baseline was normal; >20.0 x baseline if baseline was abnormal|NCI|N|
C4686746|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686747|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686748|Life-threatening consequences; urgent intervention indicated; intubation|NCI|N|
C4686749|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686750|Life-threatening consequences, threats of harm to self or others; hospitalization indicated|NCI|N|
C4686751|Adults: Decrease in hearing to profound bilateral loss (absolute threshold >80 dB HL at 2 kHz and above); nonservicable hearingPediatric: Audiologic indication for cochlear implant; > 40 dB HL (i.e., 45 dB HL or more); SNHL at 2 kHz and above|NCI|N|
C4686752|Life-threatening consequences; urgent intervention indicated (e.g., continuous IV therapy or mechanical hemodynamic support)|NCI|N|
C4686753|Life-threatening consequences; urgent operative intervention indicated|NCI|N|
C4686754|Life-threatening consequences; urgent invasive intervention indicated|NCI|N|
C4686755|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686756|Life-threatening consequences; moderate to severe encephalopathy; coma|NCI|N|
C4686757|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686758|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686759|Life-threatening consequences; urgent intervention indicated; severe decompensated liver function (e.g., coagulopathy, encephalopathy, coma)|NCI|N|
C4686760|Life-threatening consequences; severe decompensated liver function (e.g., coagulopathy, encephalopathy, coma)|NCI|N|
C4686761|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686762|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686763|Life-threatening consequences; symptoms associated with neurovascular compromise|NCI|N|
C4686764|Corrected serum calcium of >13.5 mg/dL; >3.4 mmol/L; Ionized calcium >1.8 mmol/L; life-threatening consequences|NCI|N|
C4686765|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686766|>7.0 mmol/L; life-threatening consequences|NCI|N|
C4686767|Life-threatening consequences|NCI|N|
C4686768|>8.0 mg/dL; >3.30 mmol/L; life-threatening consequences|NCI|N|
C4686769|>160 mmol/L; life-threatening consequences|NCI|N|
C4686770|Life-threatening consequences; urgent intervention indicated (e.g., dialysis)|NCI|N|
C4686771|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686772|>1000 mg/dL; >11.4 mmol/L; life-threatening consequences|NCI|N|
C4686773|Life-threatening consequences|NCI|N|
C4686774|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686775|Corrected serum calcium of <6.0 mg/dL; <1.5 mmol/L; Ionized calcium <0.8 mmol/L; life-threatening consequences|NCI|N|
C4686776|<30 mg/dL; <1.7 mmol/L; life-threatening consequences; seizures|NCI|N|
C4686777|Heat stroke|NCI|N|
C4686778|<2.5 mmol/L; life-threatening consequences|NCI|N|
C4686779|<0.7 mg/dL; <0.3 mmol/L; life-threatening consequences|NCI|N|
C4686780|<120 mmol/L; life-threatening consequences|NCI|N|
C4686781|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686782|Life-threatening consequences|NCI|N|
C4686783|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686784|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686785|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686786|Life-threatening consequences; urgent operative intervention indicated|NCI|N|
C4686787|Life-threatening consequences; urgent operative intervention indicated|NCI|N|
C4686788|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686789|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686790|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686791|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686792|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686793|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686794|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686795|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686796|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686797|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686798|Life-threatening consequences; urgent operative intervention indicated|NCI|N|
C4686799|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686800|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686801|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686802|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686803|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686804|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686805|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686806|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686807|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686808|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686809|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686810|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686811|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686812|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686813|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686814|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686815|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686816|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686817|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686818|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686819|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686820|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686821|Life-threatening consequences; urgent operative intervention indicated|NCI|N|
C4686822|Life-threatening consequences; urgent operative intervention indicated|NCI|N|
C4686823|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686824|Life-threatening consequences; urgent operative intervention indicated|NCI|N|
C4686825|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686826|Life-threatening consequences; urgent operative intervention indicated|NCI|N|
C4686827|Life-threatening airway compromise; urgent intervention indicated (e.g., tracheotomy or intubation)|NCI|N|
C4686828|Life-threatening airway compromise; urgent intervention indicated (e.g., tracheotomy or intubation)|NCI|N|
C4686829|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686830|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686831|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686832|Persistent or severe episodes associated with syncope; urgent intervention indicated (e.g., fiberoptic laryngoscopy, intubation, botox injection)|NCI|N|
C4686833|Present|NCI|N|
C4686834|Clinical manifestations of leucostasis; urgent intervention indicated|NCI|N|
C4686835|Life-threatening consequences; extensive T2/FLAIR hyperintensities, involving periventricular white matter involving most of susceptible areas of cerebrum +/- moderate to severe increase in SAS and/or moderate to severe ventriculomegaly|NCI|N|
C4686836|>5.0 x ULN and with signs or symptoms|NCI|N|
C4686837|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686838|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686839|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686840|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686841|<200/mm3; <0.2 x 10e9/L|NCI|N|
C4686842|Life-threatening consequences, threats of harm to self or others; hospitalization indicated|NCI|N|
C4686843|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686844|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686845|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686846|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686847|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686848|Life-threatening consequences|NCI|N|
C4686849|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686850|Life-threatening consequences; urgent intervention indicated (e.g., valve replacement, valvuloplasty)|NCI|N|
C4686851|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686852|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686853|Life-threatening consequences (e.g., vasopressor dependent and oliguric or anuric or ischemic colitis or lactic acidosis)|NCI|N|
C4686854|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686855|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686856|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686857|Life-threatening consequences; hemodynamically unstable|NCI|N|
C4686858|Vascular or respiratory impairment requiring urgent intervention|NCI|N|
C4686859|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686860|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686861|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686862|<500/mm3; <0.5 x 10e9/L|NCI|N|
C4686863|Best corrected visual acuity of 20/200 or worse in the affected eye|NCI|N|
C4686864|Life-threatening consequences; urgent operative intervention indicated|NCI|N|
C4686865|Best corrected visual acuity of 20/200 or worse in the affected eye|NCI|N|
C4686866|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686867|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686868|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686869|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686870|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686871|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686872|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686873|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686874|Life-threatening consequences; urgent operative intervention indicated|NCI|N|
C4686875|Life-threatening consequences; urgent operative intervention indicated|NCI|N|
C4686876|Life-threatening consequences; urgent operative intervention indicated|NCI|N|
C4686877|Best corrected visual acuity of 20/200 or worse in the affected eye|NCI|N|
C4686878|Life-threatening consequences|NCI|N|
C4686879|Life-threatening consequences; incompletely controlled medically; cardioversion indicated|NCI|N|
C4686880|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686881|Life-threatening consequences; urgent operative intervention indicated|NCI|N|
C4686882|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686883|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686884|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686885|Life-threatening consequences; evidence of end organ damage; urgent operative intervention indicated|NCI|N|
C4686886|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686887|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686888|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686889|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686890|Life-threatening consequences, threats of harm to self or others; hospitalization indicated|NCI|N|
C4686891|Life-threatening consequences; urgent operative intervention indicated|NCI|N|
C4686892|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686893|Life-threatening airway compromise; urgent intervention indicated (e.g., tracheotomy or intubation)|NCI|N|
C4686894|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686895|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686896|<25,000/mm3; <25.0 x 10e9/L|NCI|N|
C4686897|Life-threatening respiratory or hemodynamic compromise; intubation or urgent intervention indicated|NCI|N|
C4686898|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686899|Life-threatening respiratory compromise; urgent intervention indicated (e.g., tracheotomy or intubation)|NCI|N|
C4686900|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686901|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686902|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686903|Life-threatening airway compromise; urgent intervention indicated (e.g., tracheotomy or intubation)|NCI|N|
C4686904|Fetal loss at any gestational age|NCI|N|
C4686905|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686906|Delivery of a liveborn infant at 24 weeks of gestation or less|NCI|N|
C4686907|Life-threatening consequences; urgent operative intervention indicated|NCI|N|
C4686908|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686909|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686910|Life-threatening consequences; hospitalization or urgent intervention indicated|NCI|N|
C4686911|Life-threatening consequences, threats of harm to self or others; hospitalization indicated|NCI|N|
C4686912|Life-threatening respiratory compromise; urgent intervention or intubation with ventilatory support indicated|NCI|N|
C4686913|Life-threatening consequences (e.g., hemodynamic/pulmonary complications); intubation with ventilatory support indicated; radiographic pulmonary fibrosis >75% with severe honeycombing|NCI|N|
C4686914|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686915|Life-threatening consequences; urgent intervention indicated (e.g., valve replacement, valvuloplasty)|NCI|N|
C4686916|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686917|Life-threatening consequences; skin necrosis or ulceration of full thickness dermis; spontaneous bleeding from involved site; skin graft indicated|NCI|N|
C4686918|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686919|Life-threatening consequences; papules and/or pustules covering any % BSA, which may or may not be associated with symptoms of pruritus or tenderness and are associated with extensive superinfection with IV antibiotics indicated|NCI|N|
C4686920|Life-threatening consequences; urgent operative intervention indicated|NCI|N|
C4686921|Life-threatening consequences; urgent operative intervention indicated|NCI|N|
C4686922|Life-threatening consequences; urgent operative intervention indicated|NCI|N|
C4686923|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686924|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686925|Life-threatening consequences; urgent invasive intervention indicated|NCI|N|
C4686926|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686927|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686928|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686929|Life-threatening consequences|NCI|N|
C4686930|Life-threatening consequences; dialysis|NCI|N|
C4686931|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686932|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686933|Best corrected visual acuity of 20/200 or worse in the affected eye|NCI|N|
C4686934|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686935|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686936|>5.0 x ULN and with signs or symptoms|NCI|N|
C4686937|Life-threatening consequences; pressor or ventilatory support indicated|NCI|N|
C4686938|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686939|Necrosis of soft tissue or bone; urgent operative intervention indicated|NCI|N|
C4686940|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686941|Life-threatening consequences (e.g., ventilatory support, dialysis, plasmapheresis, peritoneal drainage)|NCI|N|
C4686942|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686943|Generalized; associated with signs or symptoms of impaired breathing or feeding|NCI|N|
C4686944|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686945|Any size ulcer with extensive destruction, tissue necrosis, or damage to muscle, bone, or supporting structures with or without full thickness skin loss|NCI|N|
C4686946|Cardiovascular or neuropsychiatric symptoms; urgent operative intervention indicated|NCI|N|
C4686947|Life-threatening consequences; urgent operative intervention indicated|NCI|N|
C4686948|Life-threatening consequences; urgent operative intervention indicated|NCI|N|
C4686949|Life-threatening consequences; urgent operative intervention indicated|NCI|N|
C4686950|Life-threatening consequences; urgent operative intervention indicated|NCI|N|
C4686951|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686952|Life-threatening consequences; urgent operative intervention indicated|NCI|N|
C4686953|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686954|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686955|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686956|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686957|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686958|Life-threatening consequences; unable to move active or passive range of motion|NCI|N|
C4686959|Life-threatening consequences; urgent operative intervention indicated|NCI|N|
C4686960|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686961|Life-threatening consequences; symptoms associated with neurovascular compromise|NCI|N|
C4686962|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686963|Life-threatening consequences; urgent operative intervention indicated|NCI|N|
C4686964|Skin sloughing covering 10-30% BSA with associated signs (e.g., erythema, purpura, epidermal detachment and mucous membrane detachment)|NCI|N|
C4686965|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686966|Life-threatening airway compromise; urgent intervention indicated (e.g., tracheotomy or intubation)|NCI|N|
C4686967|Specific plan to commit suicide with serious intent to die which requires hospitalization|NCI|N|
C4686968|Suicide attempt with intent to die which requires hospitalization|NCI|N|
C4686969|Generalized; associated with signs or symptoms of impaired breathing or feeding|NCI|N|
C4686970|Life-threatening consequences; urgent multi-modality intervention indicated (e.g., lysis, thrombectomy, surgery)|NCI|N|
C4686971|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686972|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686973|Life-threatening consequences with hemodynamic or neurologic instability|NCI|N|
C4686974|Life-threatening consequences, (e.g., CNS hemorrhage or thrombosis/embolism or renal failure)|NCI|N|
C4686975|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686976|Skin sloughing covering >=30% BSA with associated symptoms (e.g., erythema, purpura, or epidermal detachment)|NCI|N|
C4686977|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686978|Life-threatening airway compromise; urgent intervention indicated (e.g., tracheotomy or intubation)|NCI|N|
C4686979|Life-threatening airway compromise; urgent intervention indicated (e.g., tracheotomy or intubation)|NCI|N|
C4686980|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686981|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686982|Acute life-threatening secondary malignancy; blast crisis in leukemia|NCI|N|
C4686983|Life-threatening consequences; urgent intervention indicated (e.g., valve replacement, valvuloplasty)|NCI|N|
C4686984|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686985|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686986|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686987|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686988|Life-threatening consequences; urgent operative intervention indicated|NCI|N|
C4686989|Life-threatening consequences; urgent operative intervention indicated|NCI|N|
C4686990|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686991|Life-threatening consequences; urgent invasive intervention indicated|NCI|N|
C4686992|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686993|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686994|Adult: Anuria (<240 ml in 24 hr); Pediatric: No urine output over 12 hours|NCI|N|
C4686995|Life-threatening consequences; urgent operative intervention indicated|NCI|N|
C4686996|Life-threatening consequences; organ failure; urgent operative intervention indicated|NCI|N|
C4686997|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4686998|Life-threatening consequences; urgent operative intervention indicated|NCI|N|
C4686999|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4687000|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4687001|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4687002|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4687003|Life-threatening consequences; urgent operative intervention indicated|NCI|N|
C4687004|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4687005|Life-threatening consequences; widespread areas of mucosal ulceration; urgent intervention indicated|NCI|N|
C4687006|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4687007|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4687008|Life-threatening consequences; urgent operative intervention indicated|NCI|N|
C4687009|Life-threatening consequences with hemodynamic or neurologic instability|NCI|N|
C4687010|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4687011|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4687012|Life-threatening consequences; evidence of end organ damage; urgent operative intervention indicated|NCI|N|
C4687013|Life-threatening consequences; hemodynamic compromise|NCI|N|
C4687014|Life-threatening consequences; evidence of end organ damage; urgent operative intervention indicated|NCI|N|
C4687015|Best corrected visual acuity of 20/200 or worse in the affected eye|NCI|N|
C4687016|Best corrected visual acuity of 20/200 or worse in the affected eye|NCI|N|
C4687017|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4687018|Best corrected visual acuity of 20/200 or worse in the affected eye|NCI|N|
C4687019|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4687020|<1000/mm3; <1.0 x 10e9/L|NCI|N|
C4687021|Life-threatening consequences|NCI|N|
C4687022|Life-threatening consequences; symptomatic hernia with evidence of strangulation; fascial disruption with evisceration; major reconstruction flap, grafting, resection, or amputation indicated|NCI|N|
C4687023|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4687024|Death|NCI|N|
C4687025|Death|NCI|N|
C4687026|Death|NCI|N|
C4687027|Death|NCI|N|
C4687028|Death|NCI|N|
C4687029|Death|NCI|N|
C4687030|Death|NCI|N|
C4687031|Death|NCI|N|
C4687032|Death|NCI|N|
C4687033|Death|NCI|N|
C4687034|Death|NCI|N|
C4687035|Death|NCI|N|
C4687036|Death|NCI|N|
C4687037|Death|NCI|N|
C4687038|Death|NCI|N|
C4687039|Death|NCI|N|
C4687040|Death|NCI|N|
C4687041|Death|NCI|N|
C4687042|Death|NCI|N|
C4687043|Death|NCI|N|
C4687044|Death|NCI|N|
C4687045|Death|NCI|N|
C4687046|Death|NCI|N|
C4687047|Death|NCI|N|
C4687048|Death|NCI|N|
C4687049|Death|NCI|N|
C4687050|Death|NCI|N|
C4687051|Death|NCI|N|
C4687052|Death|NCI|N|
C4687053|Death|NCI|N|
C4687054|Death|NCI|N|
C4687055|Death|NCI|N|
C4687056|Death|NCI|N|
C4687057|Death|NCI|N|
C4687058|Death|NCI|N|
C4687059|Death|NCI|N|
C4687060|Death|NCI|N|
C4687061|Death|NCI|N|
C4687062|Death|NCI|N|
C4687063|Death|NCI|N|
C4687064|Death|NCI|N|
C4687065|Death|NCI|N|
C4687066|Death|NCI|N|
C4687067|Death|NCI|N|
C4687068|Death|NCI|N|
C4687069|Death|NCI|N|
C4687070|Death|NCI|N|
C4687071|Death|NCI|N|
C4687072|Death|NCI|N|
C4687073|Death|NCI|N|
C4687074|Death|NCI|N|
C4687075|Death|NCI|N|
C4687076|Death|NCI|N|
C4687077|Death|NCI|N|
C4687078|Death|NCI|N|
C4687079|Death|NCI|N|
C4687080|Death|NCI|N|
C4687081|Death|NCI|N|
C4687082|Death|NCI|N|
C4687083|Death|NCI|N|
C4687084|Death|NCI|N|
C4687085|Death|NCI|N|
C4687086|Death|NCI|N|
C4687087|Death|NCI|N|
C4687088|Death|NCI|N|
C4687089|Death|NCI|N|
C4687090|Death|NCI|N|
C4687091|Death|NCI|N|
C4687092|Death|NCI|N|
C4687093|Death|NCI|N|
C4687094|Death|NCI|N|
C4687095|Death|NCI|N|
C4687096|Death|NCI|N|
C4687097|Death|NCI|N|
C4687098|Death|NCI|N|
C4687099|Death|NCI|N|
C4687100|Death|NCI|N|
C4687101|Death|NCI|N|
C4687102|Death|NCI|N|
C4687103|Death|NCI|N|
C4687104|Death|NCI|N|
C4687105|Death|NCI|N|
C4687106|Death|NCI|N|
C4687107|Death|NCI|N|
C4687108|Death|NCI|N|
C4687109|Death|NCI|N|
C4687110|Death|NCI|N|
C4687111|Death|NCI|N|
C4687112|Death|NCI|N|
C4687113|Death|NCI|N|
C4687114|Death|NCI|N|
C4687115|Death|NCI|N|
C4687116|Death|NCI|N|
C4687117|Death|NCI|N|
C4687118|Death|NCI|N|
C4687119|Death|NCI|N|
C4687120|Death|NCI|N|
C4687121|Death|NCI|N|
C4687122|Death|NCI|N|
C4687123|Death|NCI|N|
C4687124|Death|NCI|N|
C4687125|Death|NCI|N|
C4687126|Death|NCI|N|
C4687127|Death|NCI|N|
C4687128|Death|NCI|N|
C4687129|Death|NCI|N|
C4687130|Death|NCI|N|
C4687131|Death|NCI|N|
C4687132|Death|NCI|N|
C4687133|Death|NCI|N|
C4687134|Death|NCI|N|
C4687135|Death|NCI|N|
C4687136|Death|NCI|N|
C4687137|Death|NCI|N|
C4687138|Death|NCI|N|
C4687139|Death|NCI|N|
C4687140|Death|NCI|N|
C4687141|Death|NCI|N|
C4687142|Death|NCI|N|
C4687143|Death|NCI|N|
C4687144|Death|NCI|N|
C4687145|Death|NCI|N|
C4687146|Death|NCI|N|
C4687147|Death|NCI|N|
C4687148|Death|NCI|N|
C4687149|Death|NCI|N|
C4687150|Death|NCI|N|
C4687151|Death|NCI|N|
C4687152|Death|NCI|N|
C4687153|Death|NCI|N|
C4687154|Death|NCI|N|
C4687155|Death|NCI|N|
C4687156|Death|NCI|N|
C4687157|Death|NCI|N|
C4687158|Death|NCI|N|
C4687159|Death|NCI|N|
C4687160|Death|NCI|N|
C4687161|Death|NCI|N|
C4687162|Death|NCI|N|
C4687163|Death|NCI|N|
C4687164|Death|NCI|N|
C4687165|Death|NCI|N|
C4687166|Death|NCI|N|
C4687167|Death|NCI|N|
C4687168|Death|NCI|N|
C4687169|Death|NCI|N|
C4687170|Death|NCI|N|
C4687171|Death|NCI|N|
C4687172|Death|NCI|N|
C4687173|Death|NCI|N|
C4687174|Death|NCI|N|
C4687175|Death|NCI|N|
C4687176|Death|NCI|N|
C4687177|Death|NCI|N|
C4687178|Death|NCI|N|
C4687179|Death|NCI|N|
C4687180|Death|NCI|N|
C4687181|Death|NCI|N|
C4687182|Death|NCI|N|
C4687183|Death|NCI|N|
C4687184|Death|NCI|N|
C4687185|Death|NCI|N|
C4687186|Death|NCI|N|
C4687187|Death|NCI|N|
C4687188|Death|NCI|N|
C4687189|Death|NCI|N|
C4687190|Death|NCI|N|
C4687191|Death|NCI|N|
C4687192|Death|NCI|N|
C4687193|Death|NCI|N|
C4687194|Death|NCI|N|
C4687195|Death|NCI|N|
C4687196|Death|NCI|N|
C4687197|Death|NCI|N|
C4687198|Death|NCI|N|
C4687199|Death|NCI|N|
C4687200|Death|NCI|N|
C4687201|Death|NCI|N|
C4687202|Death|NCI|N|
C4687203|Death|NCI|N|
C4687204|Death|NCI|N|
C4687205|Death|NCI|N|
C4687206|Death|NCI|N|
C4687207|Death|NCI|N|
C4687208|Death|NCI|N|
C4687209|Death|NCI|N|
C4687210|Death|NCI|N|
C4687211|Death|NCI|N|
C4687212|Death|NCI|N|
C4687213|Death|NCI|N|
C4687214|Death|NCI|N|
C4687215|Death|NCI|N|
C4687216|Death|NCI|N|
C4687217|Death|NCI|N|
C4687218|Death|NCI|N|
C4687219|Death|NCI|N|
C4687220|Death|NCI|N|
C4687221|Death|NCI|N|
C4687222|Death|NCI|N|
C4687223|Death|NCI|N|
C4687224|Death|NCI|N|
C4687225|Death|NCI|N|
C4687226|Death|NCI|N|
C4687227|Death|NCI|N|
C4687228|Death|NCI|N|
C4687229|Death|NCI|N|
C4687230|Death|NCI|N|
C4687231|Death|NCI|N|
C4687232|Death|NCI|N|
C4687233|Death|NCI|N|
C4687234|Death|NCI|N|
C4687235|Death|NCI|N|
C4687236|Death|NCI|N|
C4687237|Death|NCI|N|
C4687238|Death|NCI|N|
C4687239|Death|NCI|N|
C4687240|Death|NCI|N|
C4687241|Death|NCI|N|
C4687242|Death|NCI|N|
C4687243|Death|NCI|N|
C4687244|Death|NCI|N|
C4687245|Death|NCI|N|
C4687246|Death|NCI|N|
C4687247|Death|NCI|N|
C4687248|Death|NCI|N|
C4687249|Death|NCI|N|
C4687250|Death|NCI|N|
C4687251|Death|NCI|N|
C4687252|Death|NCI|N|
C4687253|Death|NCI|N|
C4687254|Death|NCI|N|
C4687255|Death|NCI|N|
C4687256|Death|NCI|N|
C4687257|Death|NCI|N|
C4687258|Death|NCI|N|
C4687259|Death|NCI|N|
C4687260|Death|NCI|N|
C4687261|Death|NCI|N|
C4687262|Death|NCI|N|
C4687263|Death|NCI|N|
C4687264|Death|NCI|N|
C4687265|Death|NCI|N|
C4687266|Death|NCI|N|
C4687267|Death|NCI|N|
C4687268|Death|NCI|N|
C4687269|Death|NCI|N|
C4687270|Death|NCI|N|
C4687271|Death|NCI|N|
C4687272|Death|NCI|N|
C4687273|Death|NCI|N|
C4687274|Death|NCI|N|
C4687275|Death|NCI|N|
C4687276|Death|NCI|N|
C4687277|Death|NCI|N|
C4687278|Death|NCI|N|
C4687279|Death|NCI|N|
C4687280|Death|NCI|N|
C4687281|Death|NCI|N|
C4687282|Death|NCI|N|
C4687283|Death|NCI|N|
C4687284|Death|NCI|N|
C4687285|Death|NCI|N|
C4687286|Death|NCI|N|
C4687287|Death|NCI|N|
C4687288|Death|NCI|N|
C4687289|Death|NCI|N|
C4687290|Death|NCI|N|
C4687291|Death|NCI|N|
C4687292|Death|NCI|N|
C4687293|Death|NCI|N|
C4687294|Death|NCI|N|
C4687295|Death|NCI|N|
C4687296|Death|NCI|N|
C4687297|Death|NCI|N|
C4687298|Death|NCI|N|
C4687299|Death|NCI|N|
C4687300|Death|NCI|N|
C4687301|Death|NCI|N|
C4687302|Death|NCI|N|
C4687303|Death|NCI|N|
C4687304|Death|NCI|N|
C4687305|Death|NCI|N|
C4687306|Death|NCI|N|
C4687307|Death|NCI|N|
C4687308|Death|NCI|N|
C4687309|Death|NCI|N|
C4687310|Death|NCI|N|
C4687311|Death|NCI|N|
C4687312|Death|NCI|N|
C4687313|Death|NCI|N|
C4687314|Death|NCI|N|
C4687315|Death|NCI|N|
C4687316|Death|NCI|N|
C4687317|Death|NCI|N|
C4687318|Death|NCI|N|
C4687319|Death|NCI|N|
C4687320|Death|NCI|N|
C4687321|Death|NCI|N|
C4687322|Death|NCI|N|
C4687323|Death|NCI|N|
C4687324|Death|NCI|N|
C4687325|Death|NCI|N|
C4687326|Death|NCI|N|
C4687327|Death|NCI|N|
C4687328|Death|NCI|N|
C4687329|Death|NCI|N|
C4687330|Death|NCI|N|
C4687331|Death|NCI|N|
C4687332|Death|NCI|N|
C4687333|Death|NCI|N|
C4687334|Death|NCI|N|
C4687335|Death|NCI|N|
C4687336|Death|NCI|N|
C4687337|Death|NCI|N|
C4687338|Death|NCI|N|
C4687339|Death|NCI|N|
C4687340|Death|NCI|N|
C4687341|Death|NCI|N|
C4687342|Death|NCI|N|
C4687343|Death|NCI|N|
C4687344|Death|NCI|N|
C4687345|Death|NCI|N|
C4687346|Death|NCI|N|
C4687347|Death|NCI|N|
C4687348|Death|NCI|N|
C4687349|Death|NCI|N|
C4687350|Death|NCI|N|
C4687351|Death|NCI|N|
C4687352|Death|NCI|N|
C4687353|Death|NCI|N|
C4687354|Death|NCI|N|
C4687355|Death|NCI|N|
C4687356|Death|NCI|N|
C4687357|Death|NCI|N|
C4687358|Death|NCI|N|
C4687359|Death|NCI|N|
C4687360|Death|NCI|N|
C4687361|Death|NCI|N|
C4687362|Death|NCI|N|
C4687363|Death|NCI|N|
C4687364|Death|NCI|N|
C4687365|Death|NCI|N|
C4687366|Death|NCI|N|
C4687367|Death|NCI|N|
C4687368|Death|NCI|N|
C4687369|Death|NCI|N|
C4687370|Death|NCI|N|
C4687371|Death|NCI|N|
C4687372|Death|NCI|N|
C4687373|Death|NCI|N|
C4687374|Death|NCI|N|
C4687375|Death|NCI|N|
C4687376|Death|NCI|N|
C4687377|Death|NCI|N|
C4687378|Death|NCI|N|
C4687379|Death|NCI|N|
C4687380|Death|NCI|N|
C4687381|Death|NCI|N|
C4687382|Death|NCI|N|
C4687383|Death|NCI|N|
C4687384|Death|NCI|N|
C4687385|Death|NCI|N|
C4687386|Death|NCI|N|
C4687387|Death|NCI|N|
C4687388|Death|NCI|N|
C4687389|Death|NCI|N|
C4687390|Death|NCI|N|
C4687391|Death|NCI|N|
C4687392|Death|NCI|N|
C4687393|Death|NCI|N|
C4687394|Death|NCI|N|
C4687397|A rare type A thymoma displaying atypical features (hypercellularity, increased mitotic activity, and focal necrosis).|NCI|N|
C4687398|A molecular abnormality that results in monoallelic loss of function mutations located within 3p14.|NCI|N|
C4687406|A molecular abnormality referring to the loss of at least one copy of the RB1 gene.|NCI|N|
C4687408|A semi-quantitative microscopic finding indicating that more than 5 percent of the nucleated cells in a peripheral leukocyte sample are immature mononuclear cells.|NCI|N|
C4687412|A semi-quantitative microscopic finding indicating that 20 percent or more of the nucleated cells in a bone marrow sample are immature mononuclear cells of lymphoid origin.|NCI|N|
C4687413|A semi-quantitative microscopic finding indicating that 20 percent or more of the nucleated cells in a peripheral leukocyte sample are immature mononuclear cells of lymphoid origin.|NCI|N|
C4687414|A semi-quantitative microscopic finding indicating that 5 percent or more of the nucleated cells in a bone marrow sample are immature mononuclear cells of myeloid origin.|NCI|N|
C4687417|A semi-quantitative microscopic finding indicating that 30 percent or less of the nucleated cells in a peripheral leukocyte sample are immature mononuclear cells.|NCI|N|
C4687418|A change in the nucleotide sequence of the PTEN gene that is associated with increased risk of disease.|NCI|N|
C4687419|A change in the nucleotide sequence of the TP53 gene that is associated with increased risk of disease.|NCI|N|
C4687422|A semi-quantitative microscopic finding indicating that between 5 and 30 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.|NCI|N|
C4687430|A highly aggressive, poorly differentiated carcinoma that arises from the mediastinum/thymus. It is characterized by mutations and rearrangement of the NUT gene.|NCI|N|
C4687431|A semi-quantitative microscopic finding indicating that between 5 and 25 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.|NCI|N|
C4687433|A semi-quantitative microscopic finding indicating that between 20 and 30 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.|NCI|N|
C4687434|A change in the nucleotide sequence of an FGFR family gene.|NCI|N|
C4687436|A very rare adenocarcinoma arising from the thymus. It is characterized by the presence of malignant polygonal cells resembling hepatocytes.|NCI|N|
C4687437|An indication that the number of months that a subject''s blood concentration of prostate specific antigen took to double was six months or less.|NCI|N|
C4687440|A change in the nucleotide sequence of the ALK gene that that results in constitutive activation of both ALK tyrosine kinase receptor protein and its downstream signaling pathways.|NCI|N|
C4687441|A change in the nucleotide sequence of the ROS1 gene that that results in constitutive activation of both proto-oncogene tyrosine-protein kinase ROS and its downstream signaling pathways.|NCI|N|
C4687444|A change in the nucleotide sequence of the PIK3CG gene.|NCI|N|
C4687445|A change in the nucleotide sequence of the PIK3R5 gene.|NCI|N|
C4687446|A glioblastoma that is resistant to treatment.|NCI|N|
C4687451|A total score of 5 for hepatic function, corresponding to class A in the Child-Pugh classification.|NCI|N|
C4687457|A total score of 11 for hepatic function, corresponding to class C in the Child-Pugh classification.|NCI|N|
C4687483|A TNM finding about one or more characteristics of a mediastinal germ cell tumor. This is not an official UICC TNM classification. (WHO Classification of Tumors of the Lung, Pleura, Thymus and Heart, 2015)|NCI|N|
C4687484|A TNM finding about one or more characteristics of a mediastinal germ cell tumor as they pertain to distant metastases. (WHO Classification of Tumors of the Lung, Pleura, Thymus and Heart, 2015)|NCI|N|
C4687485|Mediastinal germ cell tumor without evidence of distant metastasis. (WHO Classification of Tumors of the Lung, Pleura, Thymus and Heart, 2015)|NCI|N|
C4687486|Mediastinal germ cell tumor with distant metastasis. (WHO Classification of Tumors of the Lung, Pleura, Thymus and Heart, 2015)|NCI|N|
C4687487|A TNM finding about one or more characteristics of a mediastinal germ cell tumor as they pertain to staging of the primary tumor. (WHO Classification of Tumors of the Lung, Pleura, Thymus and Heart, 2015)|NCI|N|
C4687488|Primary tumor cannot be assessed. (WHO Classification of Tumors of the Lung, Pleura, Thymus and Heart, 2015)|NCI|N|
C4687489|No evidence of primary tumor. (WHO Classification of Tumors of the Lung, Pleura, Thymus and Heart, 2015)|NCI|N|
C4687490|Mediastinal germ cell tumor confined to the organ of origin (thymus and mediastinal fat). (WHO Classification of Tumors of the Lung, Pleura, Thymus and Heart, 2015)|NCI|N|
C4687491|Mediastinal germ cell tumor confined to the organ of origin (thymus and mediastinal fat) and measuring 5 cm or less. (WHO Classification of Tumors of the Lung, Pleura, Thymus and Heart, 2015)|NCI|N|
C4687492|Mediastinal germ cell tumor confined to the organ of origin (thymus and mediastinal fat) and measuring more than 5 cm. (WHO Classification of Tumors of the Lung, Pleura, Thymus and Heart, 2015)|NCI|N|
C4687493|Mediastinal germ cell tumor infiltrating contiguous organs or accompanied by malignant effusion. (WHO Classification of Tumors of the Lung, Pleura, Thymus and Heart, 2015)|NCI|N|
C4687494|Mediastinal germ cell tumor infiltrating contiguous organs or accompanied by malignant effusion and measuring 5 cm or less. (WHO Classification of Tumors of the Lung, Pleura, Thymus and Heart, 2015)|NCI|N|
C4687495|Mediastinal germ cell tumor infiltrating contiguous organs or accompanied by malignant effusion and measuring more than 5 cm. (WHO Classification of Tumors of the Lung, Pleura, Thymus and Heart, 2015)|NCI|N|
C4687496|Mediastinal germ cell tumor invading into neighboring structures, such as pericardium, mediastinal pleura, thoracic wall, great vessels and lung. (WHO Classification of Tumors of the Lung, Pleura, Thymus and Heart, 2015)|NCI|N|
C4687497|Mediastinal germ cell tumor with pleural or pericardial dissemination. (WHO Classification of Tumors of the Lung, Pleura, Thymus and Heart, 2015)|NCI|N|
C4687498|A TNM finding about one or more characteristics of a mediastinal germ cell tumor as they pertain to staging of regional lymph nodes. (WHO Classification of Tumors of the Lung, Pleura, Thymus and Heart, 2015)|NCI|N|
C4687499|Regional lymph nodes cannot be assessed. (WHO Classification of Tumors of the Lung, Pleura, Thymus and Heart, 2015)|NCI|N|
C4687500|Mediastinal germ cell tumor with no regional lymph node metastasis. (WHO Classification of Tumors of the Lung, Pleura, Thymus and Heart, 2015)|NCI|N|
C4687501|Mediastinal germ cell tumor with metastasis in regional lymph nodes. (WHO Classification of Tumors of the Lung, Pleura, Thymus and Heart, 2015)|NCI|N|
C4687502|Mediastinal germ cell tumor with metastasis in other intrathoracic lymph nodes excluding anterior mediastinal lymph nodes. (WHO Classification of Tumors of the Lung, Pleura, Thymus and Heart, 2015)|NCI|N|
C4687503|Mediastinal germ cell tumor with metastasis in scalene and/or supraclavicular lymph nodes. (WHO Classification of Tumors of the Lung, Pleura, Thymus and Heart, 2015)|NCI|N|
C4687505|A term that refers to the staging of mediastinal malignant germ cell tumors according to the Pediatric Study Group staging criteria. This staging system is not an official UICC TNM classification. (WHO Classification of Tumors of the Lung, Pleura, Thymus and Heart, 2015)|NCI|N|
C4687506|Locoregional tumor, non-metastatic, complete resection. (WHO Classification of Tumors of the Lung, Pleura, Thymus and Heart, 2015)|NCI|N|
C4687507|Locoregional tumor, non-metastatic, macroscopic complete resection but microscopic residual tumor. (WHO Classification of Tumors of the Lung, Pleura, Thymus and Heart, 2015)|NCI|N|
C4687508|Locoregional tumor, regional lymph nodes negative or positive; no distant metastasis; biopsy only or gross residual tumor after primary resection. (WHO Classification of Tumors of the Lung, Pleura, Thymus and Heart, 2015)|NCI|N|
C4687512|An angiosarcoma that has spread from its original site of growth to nearby tissues or lymph nodes.|NCI|N|
C4687513|An epithelioid hemangioendothelioma that has spread from its original site of growth to nearby tissues or lymph nodes.|NCI|N|
C4687514|An epithelioid hemangioendothelioma that has spread from its original site of growth to another anatomic site.|NCI|N|
C4687516|A malignant germ cell tumor that arises from the mediastinum. It is characterized by the presence of at least two different germ cell tumor components. The different germ cell tumor components include choriocarcinoma, embryonal carcinoma, yolk sac tumor, teratoma, and seminoma.|NCI|N|
C4687518|A change in the amino acid residue at position 1174 in the ALK tyrosine kinase receptor protein where phenylalanine has been replaced by leucine.|NCI|N|
C4687519|A nucleotide substitution at position 3522 of the coding sequence of the ALK gene where cytosine has been mutated to guanine.|NCI|N|
C4687520|A nucleotide substitution at position 3522 of the coding sequence of the ALK gene where cytosine has been mutated to adenine.|NCI|N|
C4687521|A nucleotide substitution at position 3520 of the coding sequence of the ALK gene where thymine has been mutated to cytosine.|NCI|N|
C4687522|A change in the amino acid residue at position 1174 in the ALK tyrosine kinase receptor protein where phenylalanine has been replaced by cysteine.|NCI|N|
C4687523|A nucleotide substitution at position 3521 of the coding sequence of the ALK gene where thymine has been mutated to guanine.|NCI|N|
C4687524|A change in the amino acid residue at position 1174 in the ALK tyrosine kinase receptor protein where phenylalanine has been replaced by valine.|NCI|N|
C4687525|A nucleotide substitution at position 3520 of the coding sequence of the ALK gene where thymine has been mutated to guanine.|NCI|N|
C4687526|A nucleotide substitution at position 3185 of the coding sequence of the ALK gene where adenine has been mutated to thymine.|NCI|N|
C4687527|A change in the amino acid residue at position 1062 in the ALK tyrosine kinase receptor protein where lysine has been replaced by methionine.|NCI|N|
C4687528|A nucleotide substitution at position 3824 of the coding sequence of the ALK gene where guanine has been mutated to adenine.|NCI|N|
C4687529|A change in the amino acid residue at position 1275 in the ALK tyrosine kinase receptor protein where arginine has been replaced by glutamine.|NCI|N|
C4687530|A change in the amino acid residue at position 1087 in the ALK tyrosine kinase receptor protein where threonine has been replaced by isoleucine.|NCI|N|
C4687531|A change in the amino acid residue at position 1245 in the ALK tyrosine kinase receptor protein where phenylalanine has been replaced by leucine.|NCI|N|
C4687532|A nucleotide substitution at position 3735 of the coding sequence of the ALK gene where cytosine has been mutated to guanine.|NCI|N|
C4687533|A nucleotide substitution at position 3735 of the coding sequence of the ALK gene where cytosine has been mutated to adenine.|NCI|N|
C4687534|A nucleotide substitution at position 3733 of the coding sequence of the ALK gene where thymine has been mutated to cytosine.|NCI|N|
C4687535|A change in the amino acid residue at position 601 in the serine/threonine protein kinase B-raf protein where lysine has been replaced by glutamic acid.|NCI|N|
C4687536|A malignant tumor that arises from the mediastinum and is composed of myeloblasts, neutrophils and neutrophil precursors. It is the most common type of myeloid sarcoma affecting the mediastinum.|NCI|N|
C4687537|A variation in the amino acid sequence for cellular tumor antigen p53.|NCI|N|
C4687538|A nucleotide substitution at position 524 of the coding sequence of the TP53 gene where guanine has been mutated to adenine.|NCI|N|
C4687539|A change in the amino acid residue at position 175 in the cellular tumor antigen p53 protein where arginine has been replaced by histidine.|NCI|N|
C4687540|A nucleotide substitution at position 638 of the coding sequence of the TP53 gene where guanine has been mutated to thymine.|NCI|N|
C4687541|A change in the amino acid residue at position 213 in the cellular tumor antigen p53 protein where arginine has been replaced by leucine.|NCI|N|
C4687542|A nucleotide substitution at position 659 of the coding sequence of the TP53 gene where adenine has been mutated to guanine.|NCI|N|
C4687543|A change in the amino acid residue at position 220 in the cellular tumor antigen p53 protein where tyrosine has been replaced by cysteine.|NCI|N|
C4687544|A nucleotide substitution at position 713 of the coding sequence of the TP53 gene where guanine has been mutated to adenine.|NCI|N|
C4687545|A change in the amino acid residue at position 238 in the cellular tumor antigen p53 protein where cysteine has been replaced by tyrosine.|NCI|N|
C4687546|A carcinoma that arises from the genitourinary system and has metastasized to other anatomic sites.|NCI|N|
C4687548|A nucleotide substitution at position 733 of the coding sequence of the TP53 gene where guanine has been mutated to adenine.|NCI|N|
C4687549|A change in the amino acid residue at position 245 in the cellular tumor antigen p53 protein where glycine has been replaced by serine.|NCI|N|
C4687550|A condition resulting from the presence of an extra copy of chromosome 22 in chimpanzees. The condition is in many respects similar to Trisomy 21 in humans.|NCI|N|
C4687551|A change in the amino acid residue at position 245 in the cellular tumor antigen p53 protein where glycine has been replaced by aspartic acid.|NCI|N|
C4687552|A nucleotide substitution at position 743 of the coding sequence of the TP53 gene where guanine has been mutated to adenine.|NCI|N|
C4687553|A complex substitution where the nucleotide sequence at positions 743 and 744 of the coding sequence of the TP53 gene has changed from guanine-guanine to adenine-adenine.|NCI|N|
C4687554|A change in the amino acid residue at position 248 in the cellular tumor antigen p53 protein where arginine has been replaced by glutamine.|NCI|N|
C4687555|A nucleotide substitution at position 742 of the coding sequence of the TP53 gene where cytosine has been mutated to thymine.|NCI|N|
C4687556|A complex substitution where the nucleotide sequence at positions 741 and 742 of the coding sequence of the TP53 gene has changed from cytosine-cytosine to thymine-thymine.|NCI|N|
C4687557|A change in the amino acid residue at position 248 in the cellular tumor antigen p53 protein where arginine has been replaced by tryptophan.|NCI|N|
C4687558|A nucleotide substitution at position 797 of the coding sequence of the TP53 gene where guanine has been mutated to thymine.|NCI|N|
C4687559|A change in the amino acid residue at position 266 in the cellular tumor antigen p53 protein where glycine has been replaced by valine.|NCI|N|
C4687560|A nucleotide substitution at position 797 of the coding sequence of the TP53 gene where guanine has been mutated to adenine.|NCI|N|
C4687561|A change in the amino acid residue at position 266 in the cellular tumor antigen p53 protein where glycine has been replaced by glutamic acid.|NCI|N|
C4687562|A nucleotide substitution at position 814 of the coding sequence of the TP53 gene where guanine has been mutated to adenine.|NCI|N|
C4687563|A change in the amino acid residue at position 272 in the cellular tumor antigen p53 protein where valine has been replaced by methionine.|NCI|N|
C4687564|A nucleotide substitution at position 818 of the coding sequence of the TP53 gene where guanine has been mutated to adenine.|NCI|N|
C4687565|A change in the amino acid residue at position 273 in the cellular tumor antigen p53 protein where arginine has been replaced by histidine.|NCI|N|
C4687566|A nucleotide substitution at position 817 of the coding sequence of the TP53 gene where cytosine has been mutated to thymine.|NCI|N|
C4687567|A change in the amino acid residue at position 273 in the cellular tumor antigen p53 protein where arginine has been replaced by cysteine.|NCI|N|
C4687568|A nucleotide substitution at position 818 of the coding sequence of the TP53 gene where guanine has been mutated to thymine.|NCI|N|
C4687569|A change in the amino acid residue at position 273 in the cellular tumor antigen p53 protein where arginine has been replaced by leucine.|NCI|N|
C4687570|A nucleotide substitution at position 844 of the coding sequence of the TP53 gene where cytosine has been mutated to thymine.|NCI|N|
C4687571|A complex substitution where the nucleotide sequence at positions 843 and 844 of the coding sequence of the TP53 gene has changed from cytosine-cytosine to thymine-thymine.|NCI|N|
C4687572|A nucleotide substitution at position 844 of the coding sequence of the TP53 gene where cytosine has been mutated to guanine.|NCI|N|
C4687573|A change in the amino acid residue at position 282 in the cellular tumor antigen p53 protein where arginine has been replaced by glycine.|NCI|N|
C4687574|A variation in the amino acid sequence for a protein encoded by the CDKN2A gene.|NCI|N|
C4687575|A nucleotide substitution at position 89 of the coding sequence of the CDKN2A gene where cytosine has been mutated to thymine.|NCI|N|
C4687576|A change in the amino acid residue at position 30 in the cyclin-dependent kinase inhibitor 2 protein where alanine has been replaced by valine.|NCI|N|
C4687577|A nucleotide substitution at position 152 of the coding sequence of the CDKN2A gene where thymine has been mutated to adenine.|NCI|N|
C4687578|A change in the amino acid residue at position 51 in the cyclin-dependent kinase inhibitor 2 protein where valine has been replaced by aspartic acid.|NCI|N|
C4687579|A nucleotide substitution at position 151 of the coding sequence of the CDKN2A gene where guanine has been mutated to adenine.|NCI|N|
C4687580|A change in the amino acid residue at position 51 in the cyclin-dependent kinase inhibitor 2 protein where valine has been replaced by isoleucine.|NCI|N|
C4687581|A nucleotide substitution at position 247 of the coding sequence of the CDKN2A gene where cytosine has been mutated to thymine.|NCI|N|
C4687582|A change in the amino acid residue at position 83 in the cyclin-dependent kinase inhibitor 2 protein where histidine has been replaced by tyrosine.|NCI|N|
C4687583|A nucleotide substitution at position 248 of the coding sequence of the CDKN2A gene where adenine has been mutated to cytosine.|NCI|N|
C4687584|A complex substitution where the nucleotide sequence at positions 248 and 249 of the coding sequence of the CDKN2A gene has changed from adenine-cytosine to cytosine-thymine.|NCI|N|
C4687586|A change in the amino acid residue at position 83 in the cyclin-dependent kinase inhibitor 2 protein where histidine has been replaced by proline.|NCI|N|
C4687589|A change in the amino acid residue at position 108 in the cyclin-dependent kinase inhibitor 2 protein where aspartic acid has been replaced by histidine.|NCI|N|
C4687590|A nucleotide substitution at position 322 of the coding sequence of the CDKN2A gene where guanine has been mutated to thymine.|NCI|N|
C4687591|A change in the amino acid residue at position 108 in the cyclin-dependent kinase inhibitor 2 protein where aspartic acid has been replaced by tyrosine.|NCI|N|
C4687592|A nucleotide substitution at position 389 of the coding sequence of the CDKN2A gene where thymine has been mutated to adenine.|NCI|N|
C4687593|A change in the amino acid residue at position 130 in the cyclin-dependent kinase inhibitor 2 protein where leucine has been replaced by glutamine.|NCI|N|
C4687594|A nucleotide substitution at position 439 of the coding sequence of the CDKN2A gene where guanine has been mutated to adenine.|NCI|N|
C4687595|A nucleotide substitution at position 442 of the coding sequence of the CDKN2A gene where guanine has been mutated to adenine.|NCI|N|
C4687596|A variation in the amino acid sequence for a protein encoded by the GNAS gene.|NCI|N|
C4687598|A nucleotide substitution at position 374 of the coding sequence of the GNAS gene where adenine has been mutated to guanine.|NCI|N|
C4687599|A change in the amino acid residue at position 125 in the guanine nucleotide-binding protein G(s) subunit alpha isoforms short protein where glutamine has been replaced by arginine.|NCI|N|
C4687600|A nucleotide substitution at position 478 of the coding sequence of the GNAS gene where cytosine has been mutated to thymine.|NCI|N|
C4687601|A change in the amino acid residue at position 160 in the guanine nucleotide-binding protein G(s) subunit alpha isoforms short protein where arginine has been replaced by cysteine.|NCI|N|
C4687602|A nucleotide substitution at position 602 of the coding sequence of the GNAS gene where guanine has been mutated to adenine.|NCI|N|
C4687603|A change in the amino acid residue at position 201 in the guanine nucleotide-binding protein G(s) subunit alpha isoforms short protein where arginine has been replaced by histidine.|NCI|N|
C4687604|A nucleotide substitution at position 601 of the coding sequence of the GNAS gene where cytosine has been mutated to thymine.|NCI|N|
C4687605|A change in the amino acid residue at position 201 in the guanine nucleotide-binding protein G(s) subunit alpha isoforms short protein where arginine has been replaced by cysteine.|NCI|N|
C4687606|A nucleotide substitution at position 601 of the coding sequence of the GNAS gene where cytosine has been mutated to adenine.|NCI|N|
C4687607|A change in the amino acid residue at position 201 in the guanine nucleotide-binding protein G(s) subunit alpha isoforms short protein where arginine has been replaced by serine.|NCI|N|
C4687608|A nucleotide substitution at position 680 of the coding sequence of the GNAS gene where adenine has been mutated to guanine.|NCI|N|
C4687609|A change in the amino acid residue at position 227 in the guanine nucleotide-binding protein G(s) subunit alpha isoforms short protein where glutamine has been replaced by arginine.|NCI|N|
C4687610|A nucleotide substitution at position 680 of the coding sequence of the GNAS gene where adenine has been mutated to thymine.|NCI|N|
C4687611|A change in the amino acid residue at position 227 in the guanine nucleotide-binding protein G(s) subunit alpha isoforms short protein where glutamine has been replaced by leucine.|NCI|N|
C4687612|A change in the amino acid residue at position 227 in the guanine nucleotide-binding protein G(s) subunit alpha isoforms short protein where glutamine has been replaced by proline.|NCI|N|
C4687613|A nucleotide substitution at position 679 of the coding sequence of the GNAS gene where cytosine has been mutated to guanine.|NCI|N|
C4687614|A change in the amino acid residue at position 227 in the guanine nucleotide-binding protein G(s) subunit alpha isoforms short protein where glutamine has been replaced by glutamic acid.|NCI|N|
C4687615|A variation in the amino acid sequence for E3 ubiquitin-protein ligase RNF43.|NCI|N|
C4687616|A nucleotide substitution at position 380 of the coding sequence of the RNF453 gene where guanine has been mutated to cytosine.|NCI|N|
C4687617|A nucleotide substitution at position 420 of the coding sequence of the RNF453 gene where cytosine has been mutated to guanine.|NCI|N|
C4687618|A change in the amino acid residue at position 140 in the E3 ubiquitin-protein ligase RNF43 protein where aspartic acid has been replaced by glutamic acid.|NCI|N|
C4687619|A nucleotide substitution at position 461 of the coding sequence of the RNF453 gene where cytosine has been mutated to thymine.|NCI|N|
C4687620|A change in the amino acid residue at position 154 in the E3 ubiquitin-protein ligase RNF43 protein where proline has been replaced by leucine.|NCI|N|
C4687621|A nucleotide substitution at position 505 of the coding sequence of the RNF453 gene where guanine has been mutated to adenine.|NCI|N|
C4687622|A change in the amino acid residue at position 169 in the E3 ubiquitin-protein ligase RNF43 protein where alanine has been replaced by threonine.|NCI|N|
C4687623|A nucleotide substitution at position 954 of the coding sequence of the RNF453 gene where guanine has been mutated to thymine.|NCI|N|
C4687624|A change in the amino acid residue at position 318 in the E3 ubiquitin-protein ligase RNF43 protein where glutamic acid has been replaced by aspartic acid.|NCI|N|
C4687625|A change in the nucleotide sequence of exon 9 of the PIK3CA gene.|NCI|N|
C4687626|A change in the nucleotide sequence of exon 20 of the PIK3CA gene.|NCI|N|
C4687629|An epithelioid hemangioendothelioma that arises from the mediastinum.|NCI|N|
C4687630|A central nervous system non-Hodgkin lymphoma which does not respond to treatment.|NCI|N|
C4687631|The reemergence of central nervous system non-Hodgkin lymphoma after a period of remission.|NCI|N|
C4687633|A description of the type of medical device that is found in a subject and is present in its intended location within the body.|NCI|N|
C4687638|An extraskeletal osteosarcoma that arises from the heart. It produces osteoid and bone, and occasionally shows chondroblastic differentiation.|NCI|N|
C4687639|A low-grade sarcoma that arises from the heart. It is composed of spindle or rounded cells in a myxoid stroma. The most common location is the left atrium.|NCI|N|
C4687640|A germ cell tumor that arises within the myocardium or cardiac chambers. The reported cases have been teratomas and yolk sac tumors.|NCI|N|
C4687641|A yolk sac tumor that arises within the myocardium or cardiac chambers.|NCI|N|
C4687643|A nucleotide substitution at position 2389 of the coding sequence of the EGFR gene where thymine has been mutated to adenine.|NCI|N|
C4687644|A nucleotide substitution at position 2390 of the coding sequence of the EGFR gene where guanine has been mutated to cytosine.|NCI|N|
C4687645|A change in the amino acid residue at position 797 in the epidermal growth factor receptor protein where cysteine has been replaced by serine.|NCI|N|
C4687646|A change in the amino acid residue at position 797 in the epidermal growth factor receptor protein where cysteine has been replaced by alanine.|NCI|N|
C4687647|A nucleotide substitution at position 2374 of the coding sequence of the EGFR gene where cytosine has been mutated to thymine.|NCI|N|
C4687648|A change in the amino acid residue at position 792 in the epidermal growth factor receptor protein where leucine has been replaced by phenylalanine.|NCI|N|
C4687649|A nucleotide substitution at position 2375 of the coding sequence of the EGFR gene where thymine has been mutated to adenine.|NCI|N|
C4687650|A change in the amino acid residue at position 792 in the epidermal growth factor receptor protein where leucine has been replaced by histidine.|NCI|N|
C4687651|A change in the amino acid residue at position 792 in the epidermal growth factor receptor protein where leucine has been replaced by tyrosine.|NCI|N|
C4687652|A change in the amino acid residue at position 718 in the epidermal growth factor receptor protein where leucine has been replaced by valine.|NCI|N|
C4687653|A nucleotide substitution at position 2153 of the coding sequence of the EGFR gene where thymine has been mutated to adenine.|NCI|N|
C4687654|A change in the amino acid residue at position 718 in the epidermal growth factor receptor protein where leucine has been replaced by glutamine.|NCI|N|
C4687655|A nucleotide substitution at position 2386 of the coding sequence of the EGFR gene where guanine has been mutated to adenine.|NCI|N|
C4687656|A change in the amino acid residue at position 796 in the epidermal growth factor receptor protein where glycine has been replaced by serine.|NCI|N|
C4687657|A nucleotide substitution at position 2386 of the coding sequence of the EGFR gene where guanine has been mutated to cytosine.|NCI|N|
C4687658|A change in the amino acid residue at position 796 in the epidermal growth factor receptor protein where glycine has been replaced by arginine.|NCI|N|
C4687664|Chemotherapy-induced nausea and vomiting that does not respond to treatment.|NCI|N|
C4687665|A change in the nucleotide sequence of the PIK3AP1 gene.|NCI|N|
C4687667|A semi-quantitative microscopic finding indicating that 1 percent or more of the nucleated cells in a peripheral leukocyte sample are immature mononuclear cells.|NCI|N|
C4687668|A semi-quantitative microscopic finding indicating that between 6 and 19 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.|NCI|N|
C4687673|A change in the nucleotide sequence of the ARAF gene.|NCI|N|
C4687674|A change in the nucleotide sequence of the MAP2K1 gene.|NCI|N|
C4687676|A molecular genetic abnormality indicating the presence of multiple copies of the FGF3 gene.|NCI|N|
C4687677|A neuroendocrine tumor that has spread from its original site of growth to another anatomic site.|NCI|N|
C4687681|An adenoma arising from the mammary gland of a dog.|NCI|N|
C4687682|A molecular genetic abnormality indicating the presence of a sensitizing mutation in the ALK gene.|NCI|N|
C4687688|A molecular abnormality referring to the loss of at least one copy of the MET gene.|NCI|N|
C4687694|Lymphovascular invasion is not present (absent) or is not identified. (AJCC 8th ed.)|NCI|N|
C4687695|Lymphovascular invasion is present or identified. (AJCC 8th ed.)|NCI|N|
C4687696|Presence of lymphovascular invasion unknown or indeterminate. (AJCC 8th ed.)|NCI|N|
C4687697|Lymphatic and small vessel invasion only. (AJCC 8th ed.)|NCI|N|
C4687698|Venous (large vessel) invasion only. (AJCC 8th ed.)|NCI|N|
C4687699|Both lymphatic and small vessel and venous (large vessel) invasion. (AJCC 8th ed.)|NCI|N|
C4687700|A rare sarcoma that arises from the pericardium. The two most common types are angiosarcoma and synovial sarcoma. Patients present with symptoms related to pericardial effusion.|NCI|N|
C4687701|A rare angiosarcoma that arises from the pericardium. Patients present with symptoms related to pericardial effusion.|NCI|N|
C4687702|A rare synovial sarcoma that arises from the pericardium. Patients present with symptoms related to pericardial effusion.|NCI|N|
C4687703|A teratoma that arises within the pericardium.|NCI|N|
C4687704|A malignant germ cell tumor that arises within the pericardium.|NCI|N|
C4687705|A yolk sac tumor that arises within the pericardium.|NCI|N|
C4687706|A germ cell tumor that arises from the pericardium. There is no evidence of atypia or metastases.|NCI|N|
C4687707|Glioma that does not respond to treatment.|NCI|N|
C4687708|Ependymoma that does not respond to treatment.|NCI|N|
C4687709|The reemergence of SHH-activated medulloblastoma after a period of remission.|NCI|N|
C4687710|SHH-activated medulloblastoma that does not respond to treatment.|NCI|N|
C4687711|Medulloblastoma that is increasing in scope or severity.|NCI|N|
C4687712|Ependymoma that is increasing in scope or severity.|NCI|N|
C4687713|A central nervous system neoplasm that is increasing in scope or severity.|NCI|N|
C4687714|Graft versus host disease that does not respond to steroid treatment.|NCI|N|
C4687715|SHH-activated medulloblastoma that is increasing in scope or severity.|NCI|N|
C4687717|A change in the amino acid residue at position 1010 in the hepatocyte growth factor receptor protein where aspartic acid has been replaced by asparagine.|NCI|N|
C4687719|A change in the nucleotide sequence of MET gene that alters splicing at codon 1010.|NCI|N|
C4687725|A change in the amino acid residue at position 792 in the epidermal growth factor receptor protein where leucine has been replaced by another amino acid.|NCI|N|
C4687726|A change in the amino acid residue at position 796 in the epidermal growth factor receptor protein where glycine has been replaced by another amino acid.|NCI|N|
C4687727|A change in the amino acid residue at position 718 in the epidermal growth factor receptor protein where leucine has been replaced by another amino acid.|NCI|N|
C4687740|The ratio of the left ventricular outflow tract (LVOT) velocity to the maximum velocity of the aortic valve.|NCI|N|
C4687741|The minimal cross-sectional area of the flow jet downstream of a cardiac valve.|NCI|N|
C4687742|The ratio of the effective orifice area (EOA) to the body surface area (BSA).|NCI|N|
C4687744|The arithmetic average of the quantitative measurement of the pressure gradient across a predetermined point.|NCI|N|
C4687747|The quantitative measurement of the largest pressure gradient across a predetermined point.|NCI|N|
C4687748|The ratio of the valve area to the body surface area.|NCI|N|
C4687749|The quantitative measurement of the surface area of a valve.|NCI|N|
C4687935|The standard deviation of the subject''s bone mineral density score in comparison to the expected normal bone mineral density of a healthy 30-year old adult.|NCI|N|
C4687937|The actual distance between the subject and the eye chart during an eye assessment.|NCI|N|
C4687938|The planned distance between the subject and the eye chart during an eye assessment.|NCI|N|
C4687953|A decrease in the number of corpora lutea within the ovary.|NCI|N|
C4687954|An increase in the number of corpora lutea within the ovary.|NCI|N|
C4687955|An increase in the amount of surface erosion.|NCI|N|
C4687957|An increase in the amount of osteoclasts.|NCI|N|
C4687958|A severity result of one, on a three level scale.|NCI|N|
C4687959|A severity result of one, on a five level scale.|NCI|N|
C4687960|A severity result of two, on a three level scale.|NCI|N|
C4687961|A severity result of two, on a four level scale.|NCI|N|
C4687962|A severity result of two, on a five level scale.|NCI|N|
C4687963|A severity result of three, on a three level scale.|NCI|N|
C4687964|A severity result of three, on a four level scale.|NCI|N|
C4687965|A severity result of three, on a five level scale.|NCI|N|
C4687966|A severity result of four, on a four level scale.|NCI|N|
C4687967|A severity result of four, on a five level scale.|NCI|N|
C4687968|A severity result of five, on a five level scale.|NCI|N|
C4687982|Adenocarcinoma arising from the lung of a sheep.|NCI|N|
C4687983|Myeloid recovery after bone marrow transplantation. It manifests with the production of new blood cells. It takes approximately two to four weeks after the bone marrow is infused with the transplanted stem cells for the recovery to occur.|NCI|N|
C4688007|Ovarian carcinoma that progresses between one and six months of completing the last platinum therapy.|NCI|N|
C4688010|A change in the amino acid residue at position 59 in the GTPase KRas protein where alanine has been replaced by another amino acid.|NCI|N|
C4688011|A change in the amino acid residue at position 117 in the GTPase KRas protein where lysine has been replaced by another amino acid.|NCI|N|
C4688275|The reemergence of a lymphoproliferative disorder after a period of remission.|NCI|N|
C4688276|The reemergence of EBV-related lymphoma after a period of remission.|NCI|N|
C4688300|A change in the nucleotide sequence of the ABCD1 gene.|NCI|N|
C4688307|A finding indicating that chronic lymphocytic leukemia does not respond to treatment with Bruton''s tyrosine kinase (BTK) inhibitor, ibrutinib.|NCI|N|
C4688308|Non-squamous non-small cell lung carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C4688312|A B-cell non-Hodgkin lymphoma that arises from the brain, meninges, or spinal cord.|NCI|N|
C4688316|Breast carcinoma that does not respond to treatment.|NCI|N|
C4688318|Colorectal carcinoma that does not respond to treatment.|NCI|N|
C4688319|Melanoma that does not respond to treatment.|NCI|N|
C4688320|Gastric carcinoma that does not respond to treatment.|NCI|N|
C4688331|Ovarian carcinoma caused by deleterious germline mutation in a gene of the BRCA family.|NCI|N|
C4688332|The reemergence of BRCA-associated ovarian carcinoma after a period of remission.|NCI|N|
C4688333|The reemergence of a childhood malignant solid neoplasm after a period of remission.|NCI|N|
C4688334|A childhood malignant solid neoplasm that does not respond to treatment.|NCI|N|
C4688335|A mutation in PIK3CD, the gene encoding the p110delta catalytic subunit of PI3K, that results in induction of PI3K signaling. Mutations of this type are associated with immunodeficiency 14 (PASLI: activated PI3k-delta syndrome, p110-delta-activating mutation causing senescent T-cells, lymphadenopathy, and immunodeficiency).|NCI|N|
C4688336|A malignant solid neoplasm that occurs during childhood.|NCI|N|
C4688340|A malignant solid neoplasm that is not amenable to surgical resection.|NCI|N|
C4688341|The reemergence of WHO grade 2 glioma after a period of remission.|NCI|N|
C4688342|The reemergence of a WHO grade III glioma after a period of remission.|NCI|N|
C4688346|A B-cell malignant neoplasm that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C4688349|A quantitative microscopic finding indicating that less than 20,000 of the total number of nucleated cells in a peripheral leukocyte sample are immature mononuclear cells.|NCI|N|
C4688353|A craniopharyngioma that is not amenable to surgical resection.|NCI|N|
C4688354|The reemergence of a craniopharyngioma after a period of remission.|NCI|N|
C4688368|A molecular abnormality indicating rearrangement of the EGFR gene.|NCI|N|
C4688369|A change in the amino acid residue at position 27 in histone H3.3 protein where lysine has been replaced by methionine.|NCI|N|
C4688372|Malignant thymoma that does not respond to treatment.|NCI|N|
C4688373|A genetic rearrangement that refers to any inversion involving the ROS1 gene.|NCI|N|
C4688374|A change in the sequence of one or more genes that are involved in the hedgehog signaling pathway.|NCI|N|
C4688377|A change in the nucleotide sequence of the DDR2 gene.|NCI|N|
C4688378|A change in the nucleotide sequence of a GNAI family gene.|NCI|N|
C4688379|A change in the nucleotide sequence of the ERBB2 gene that either inhibits expression of the receptor tyrosine-protein kinase erbB-2 protein or results in the translation of an inactive receptor tyrosine-protein kinase erbB-2 protein.|NCI|N|
C4688380|A change in the nucleotide sequence of the KIT gene that originated in non-germline cells.|NCI|N|
C4688387|The adverse event was caused partially or wholly by the user of the device including sample handling.|NCI|N|
C4688388|The investigation involved the analysis of relevant production records in view of supporting the identification of possible causes for the adverse event.|NCI|N|
C4688389|The device affects the ability of the blood to clot which may be induced by chemical, mechanical, or thermal properties of the device.|NCI|N|
C4688414|Stage IA includes: T1a, N0, M0. T1a: Tumor confined to the vagina, measuring 2.0 cm or less. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th Ed.)|NCI|N|
C4688416|Stage I includes: T1, N0, M0. T1: Uterine corpus adenosarcoma with tumor limited to the uterus. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th Ed.)|NCI|N|
C4688417|Penile cancer with extranodal extension of lymph node metastases or pelvic lymph node metastases. (from AJCC 8th Ed.)|NCI|N|
C4688418|A finding about one or more characteristics of prostate cancer, following the rules of the TNM AJCC v8 classification system. This classification system applies to adenocarcinomas and squamous cell carcinomas of the prostate gland. It does not apply to sarcomas, urothelial cell carcinomas, and urothelial carcinoma of bladder involving prostate. (from AJCC 8th Ed.)|NCI|N|
C4688419|Prostate cancer in which the tumor involves both sides. (from AJCC 8th Ed.)|NCI|N|
C4688420|Stage IVB includes: Any T, N0, M1, PSA: Any, Grade Group: Any. N0: Prostate cancer with no positive regional nodes. M1: Prostate cancer with distant metastasis. (AJCC 8th ed.)|NCI|N|
C4688421|Kidney cancer in which the tumor measures 7 cm or less in greatest dimension and is limited to the kidney. (from AJCC 8th Ed.)|NCI|N|
C4688424|A finding about one or more characteristics of renal pelvis and ureter cancer, following the rules of the TNM AJCC v8 classification system. This classification system applies to renal pelvis and ureter urothelial (transitional cell) carcinoma, including histologic variants micropapillary and nested subtypes. It does not apply to renal cell carcinomas (are staged according to the classification for kidney), renal medullary carcinomas (are staged according to the classification for kidney), collecting duct carcinomas (are staged according to the classification for kidney), lymphomas (are staged according to the classification for Hodgkin and non-Hodgkin lymphoma), and mesenchymal tumors (are staged according to the classification for soft tissue sarcoma of the abdomen and thoracic visceral organs). (from AJCC 8th Ed.)|NCI|N|
C4688425|Bladder cancer with tumor invading perivesical soft tissue, macroscopically (extravesical mass). (from AJCC 8th Ed.)|NCI|N|
C4688426|Stage IIIA includes: (T3a, T3b, T4a, N0, M0); (T1-T4a, N1, M0). T1: Tumor invades lamina propria (subepithelial connective tissue). T2: Tumor invades muscularis propria. T3: Tumor invades perivesical soft tissue. T3a: Tumor invades perivesical soft tissue, microscopically. T3b: Tumor invades perivesical soft tissue, macroscopically (extravesical mass). T4a: Extravesical tumor invades directly into prostatic stroma, uterus, vagina. N0: No regional lymph node metastasis. N1: Single regional lymph node metastasis in the true pelvis (perivesical, obturator, internal and external iliac, or sacral lymph node). M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4688427|Urethral cancer with multiple regional lymph node metastasis in the inguinal region or true pelvis [perivesical, obturator, internal (hypogastric) and external iliac], or presacral lymph node. (from AJCC 8th Ed.)|NCI|N|
C4688434|An anatomic stage for nodular lymphocyte predominant Hodgkin lymphoma based on the Ann Arbor classification criteria.|NCI|N|
C4688435|An anatomic stage for mantle cell lymphoma based on the Ann Arbor classification criteria.|NCI|N|
C4688453|A subjective score of 10 on a pain scale that ranges from 0: No Pain to 10: Worst Possible Pain.|NCI|N|
C4688461|A semi-quantitative microscopic finding indicating that more than 5 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.|NCI|N|
C4688462|A change in the nucleotide sequence of the FGFR3 gene that that results in constitutive activation of fibroblast growth factor 3 and its downstream signaling pathways.|NCI|N|
C4688485|A change which occurs at a particular time, affecting all age groups and cohorts uniformly.|NCI|N|
C4688494|A molecular genetic abnormality indicating the presence of multiple copies of the ROS1 gene.|NCI|N|
C4688505|A semi-quantitative microscopic finding indicating that less than 30 percent of the nucleated cells in a peripheral leukocyte sample are immature mononuclear cells.|NCI|N|
C4688511|Mild; non-operative intervention indicated|NCI|N|
C4688512|No change in bowel function or oral intake|NCI|N|
C4688513|Mild symptoms; intervention not indicated|NCI|N|
C4688514|Mild sensory alteration|NCI|N|
C4688515|Asymptomatic|NCI|N|
C4688516|Asymptomatic diagnostic finding; intervention not indicated|NCI|N|
C4688517|Mild hallucinations (e.g., perceptual distortions)|NCI|N|
C4688518|Corrected serum calcium of >ULN-11.5 mg/dL; >ULN-2.9 mmol/L; Ionized calcium >ULN-1.5 mmol/L|NCI|N|
C4688519|Asymptomatic; clinical or diagnostic observations only; intervention not indicated|NCI|N|
C4688520|Primary repair of injured organ/structure indicated|NCI|N|
C4688521|Decrease in sexual interest not adversely affecting relationship|NCI|N|
C4688522|Mild pain|NCI|N|
C4688523|Asymptomatic; clinical or diagnostic observations only; intervention not indicated|NCI|N|
C4688524|Combined area of ulcers <1 cm; nonblanchable erythema of intact skin with associated warmth or edema|NCI|N|
C4688525|Mild length discrepancy <2 cm|NCI|N|
C4688526|Asymptomatic, intervention not indicated|NCI|N|
C4688527|>1.5-2.5 x ULN|NCI|N|
C4688528|Evidence of autoimmune reaction involving a non-essential organ or function (e.g., hypothyroidism)|NCI|N|
C4688529|Symptomatic; altered GI function|NCI|N|
C4688530|Moderate localized facial edema; limiting instrumental ADL|NCI|N|
C4688531|Daily use of pads required|NCI|N|
C4688532|Symptomatic; altered GI function|NCI|N|
C4688533|Moderate pain; limiting instrumental ADL|NCI|N|
C4688534|Moderate symptoms; limiting instrumental ADL|NCI|N|
C4688535|Moderate; minimal, local or noninvasive intervention indicated; limiting age-appropriate instrumental ADL|NCI|N|
C4688536|Moderate symptoms; intervention indicated|NCI|N|
C4688537|Oral intervention indicated (e.g., antibiotic, antifungal, or antiviral)|NCI|N|
C4688538|Symptomatic separation of the nail bed from the nail plate or nail loss; limiting instrumental ADL|NCI|N|
C4688539|Moderate pain; limiting instrumental ADL|NCI|N|
C4688540|Localized; local intervention indicated (e.g., topical antibiotic, antifungal, or antiviral)|NCI|N|
C4688541|Symptomatic; altered GI function; limiting instrumental ADL|NCI|N|
C4688542|Symptomatic; medical intervention indicated|NCI|N|
C4688543|Moderate symptoms; medical intervention indicated|NCI|N|
C4688544|Invasive intervention indicated|NCI|N|
C4688545|Severe symptoms; limiting self care ADL; repair or revision indicated|NCI|N|
C4688546|Levels consistent with myocardial infarction as defined by the manufacturer|NCI|N|
C4688547|Severely altered GI function; tube feeding or hospitalization indicated; elective operative intervention indicated|NCI|N|
C4688548|Severe symptoms; elective operative intervention indicated|NCI|N|
C4688549|Severe or medically significant but not immediately life-threatening; hospitalization or prolongation of existing hospitalization indicated; limiting self care ADL|NCI|N|
C4688550|Severe or medically significant but not immediately life-threatening; hospitalization or prolongation of existing hospitalization indicated|NCI|N|
C4688551|Severe symptoms; limiting self care ADL|NCI|N|
C4688552|Significant deformity, hypoplasia, or asymmetry, unable to be remediated by prosthesis or covered by clothing; limiting self care ADL|NCI|N|
C4688553|Severe symptoms; limiting self care ADL; elective operative intervention indicated|NCI|N|
C4688554|Symptomatic, urgent intervention indicated; ablation|NCI|N|
C4688555|Severe symptoms; invasive intervention indicated|NCI|N|
C4688556|Blood bilirubin >5 mg/dL; coagulation modifier indicated (e.g., defibrotide); reversal of flow on ultrasound|NCI|N|
C4688557|Stridor or respiratory distress limiting self care ADL; invasive intervention indicated (e.g., stent, laser)|NCI|N|
C4688558|Severe pain; limiting self care ADL|NCI|N|
C4688559|Severe symptoms; limiting self care ADL|NCI|N|
C4688560|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4688561|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4688562|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4688563|Life-threatening consequences, (e.g., CNS hemorrhage or thrombosis/embolism or renal failure)|NCI|N|
C4688564|Life-threatening consequences; urgent operative intervention indicated|NCI|N|
C4688565|Life-threatening consequences|NCI|N|
C4688566|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4688567|Life-threatening consequences; urgent intervention, intubation, or ventilatory support indicated|NCI|N|
C4688568|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4688569|Life-threatening consequences; urgent intervention indicated|NCI|N|
C4688570|Life-threatening consequences; urgent operative intervention indicated|NCI|N|
C4688571|Death|NCI|N|
C4688572|Death|NCI|N|
C4688573|Death|NCI|N|
C4688574|Death|NCI|N|
C4688575|Death|NCI|N|
C4688576|Death|NCI|N|
C4688577|Death|NCI|N|
C4688578|Death|NCI|N|
C4688579|Death|NCI|N|
C4688580|Death|NCI|N|
C4688583|A change in the nucleotide sequence of the WT1 gene.|NCI|N|
C4688586|Tumor with distant metastasis. (WHO Classification of Tumors of the Lung, Pleura, Thymus and Heart, 2015)|NCI|N|
C4688588|A nucleotide substitution at position 1801 of the coding sequence of the BRAF gene where adenine has been mutated to guanine.|NCI|N|
C4688589|A nucleotide substitution at position 734 of the coding sequence of the TP53 gene where guanine has been mutated to adenine.|NCI|N|
C4688590|A change in the amino acid residue at position 282 in the cellular tumor antigen p53 protein where arginine has been replaced by tryptophan.|NCI|N|
C4688591|A nucleotide substitution at position 322 of the coding sequence of the CDKN2A gene where guanine has been mutated to cytosine.|NCI|N|
C4688592|A change in the amino acid residue at position 127 in the E3 ubiquitin-protein ligase RNF43 protein where arginine has been replaced by proline.|NCI|N|
C4688596|A blood concentration of prostate specific antigen greater than 4 ng/mL.|NCI|N|
C4688597|A change in the nucleotide sequence of MET gene that alters splicing at codon 963.|NCI|N|
C4688607|A severity result of one, on a four level scale.|NCI|N|
C4688618|An oropharyngeal squamous cell carcinoma which is negative for p16INK4a by immunohistochemistry. This negative immunohistochemistry result does not exclude human papillomavirus infection.|NCI|N|
C4688642|A finding about one or more characteristics of mycosis fungoides and Sezary syndrome, following the rules of the TNM AJCC v8 classification system as they pertain to distant metastases (visceral). (from AJCC 8th Ed.)|NCI|N|
C4688647|A pathologic finding about one or more characteristics of lacrimal gland carcinoma, following the rules of the TNM AJCC v8 classification system.|NCI|N|
C4688648|Ocular adnexal lymphoma with lymphomatous involvement of the bone marrow. (from AJCC 8th Ed.)|NCI|N|
C4688649|Advanced stage adult lymphoma based on the Lugano classification criteria. It includes stages III and IV. (from AJCC 8th Ed.)|NCI|N|
C4688652|A very rare, benign or malignant lung tumor with myoepithelial differentiation.|NCI|N|
C4688655|A finding about one or more characteristics of uterine corpus carcinoma or carcinosarcoma, following the rules of the TNM AJCC v8 classification system. This classification system does not apply to uterine corpus sarcomas: leiomyosarcomas, endometrial stromal sarcomas, and adenosarcomas. These sarcomas are staged according to the classification for uterine corpus sarcomas. (from AJCC 8th Ed.)|NCI|N|
C4688656|A finding about one or more characteristics of a gestational trophoblastic neoplasm, following the rules of the TNM AJCC v8 classification system. This classification applies to the following placental neoplasms: invasive hydatidiform mole, choriocarcinoma, placental site trophoblastic tumor, and epithelioid trophoblastic tumor. Complete and partial hydatidiform tumors are not included in this classification. (from AJCC 8th Ed.)|NCI|N|
C4688657|Testicular cancer with no evidence of primary tumor. (from AJCC 8th Ed.)|NCI|N|
C4688658|Stage IIC includes: (Any pT/TX, N3, M0, S0); (Any pT/TX, N3, M0, S1). TX: Testicular cancer in which the primary tumor cannot be assessed. N3: Testicular cancer with metastasis with a lymph node mass larger than 5 cm in greatest dimension. M0: Testicular cancer without evidence of distant metastasis. S0: Marker study levels within normal limits. S1: LDH less than 1.5 x N and hCG (mlU/mL) less than 5,000 and AFP (ng/mL) less than 1,000. N indicates the upper limit of normal for the LDH assay. (AJCC 8th ed.)|NCI|N|
C4688660|Eyelid carcinoma with tumor measuring more than 20 mm but 30 mm or less in greatest dimension involving the full thickness of the eyelid. (from AJCC 8th Ed.)|NCI|N|
C4688661|Conjunctival carcinoma with distant metastasis. (from AJCC 8th Ed.)|NCI|N|
C4688664|A pathologic finding about one or more characteristics of conjunctival melanoma, following the rules of the TNM AJCC v8 classification system as they pertain to staging of the primary tumor.|NCI|N|
C4688665|Iris melanoma with tumor confluent with or extending into the ciliary body, without secondary glaucoma. (from AJCC 8th Ed.)|NCI|N|
C4688666|Stage IIIA includes: (T2c-d, N0, M0); (T3b-c, N0, M0); (T4a, N0, M0). T2c: Tumor size category 2 without ciliary body involvement but with extraocular extension less than or equal to 5 mm in largest diameter. T2d: Tumor size category 2 with ciliary body involvement and extraocular extension less than or equal to 5 mm in largest diameter. T3b: Tumor size category 3 with ciliary body involvement. T3c: Tumor size category 3 without ciliary body involvement but with extraocular extension less than or equal to 5 mm in largest diameter. T4a: Tumor size category 4 without ciliary body involvement and extraocular extension. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C4688667|Tumor invasion of choroid, pars plana, ciliary body, lens, zonules, iris, or anterior chamber. (from AJCC 8th Ed.)|NCI|N|
C4692489|Unintentional movement in one area of the face produced during intentional movement of another area of the face.|HPO|N|
C4692546|Erythropoietic protoporphyria (EPP) is characterized by cutaneous photosensitivity (usually beginning in infancy or childhood) that results in tingling, burning, pain, and itching within 30 minutes after exposure to sun or ultraviolet light and may be accompanied by swelling and redness. Symptoms (which may seem out of proportion to the visible skin lesions) may persist for hours or days after the initial phototoxic reaction. Photosensitivity remains for life. Multiple episodes of acute photosensitivity may lead to chronic changes of sun-exposed skin (lichenification, leathery pseudovesicles, grooving around the lips) and loss of lunulae of the nails. Approximately 20%-30% of individuals with EPP have some degree of liver dysfunction, which is typically mild with slight elevations of the liver enzymes. Up to 5% may develop more advanced liver disease which may be accompanied by motor neuropathy similar to that seen in the acute porphyrias.|GeneReviews|N|
C4692564|Hyperphosphatemic familial tumoral calcinosis (HFTC) is characterized by: Ectopic calcifications (tumoral calcinosis) typically found in periarticular soft tissues exposed to repetitive trauma or prolonged pressure (e.g., hips, elbows, and shoulders); and Painful swellings (referred to as hyperostosis) in the areas overlying the diaphyses of the tibiae (and less often the ulna, metacarpal bones, and radius). The dental phenotype unique to HFTC includes enamel hypoplasia, short and bulbous roots, obliteration of pulp chambers and canals, and pulp stones. Less common are large and small vessel calcifications that are often asymptomatic incidental findings on radiologic studies but can also cause peripheral vascular insufficiency (e.g., pain, cold extremities, and decreased peripheral pulses). Less frequently reported findings include testicular microlithiasis and angioid streaks of the retina.|GeneReviews|N|
C4692625|Shwachman-Diamond syndrome (SDS) is characterized by: exocrine pancreatic dysfunction with malabsorption, malnutrition, and growth failure; hematologic abnormalities with single- or multilineage cytopenias and susceptibility to myelodysplasia syndrome (MDS) and acute myelogeneous leukemia (AML); and bone abnormalities. In almost all affected children, persistent or intermittent neutropenia is a common presenting finding, often before the diagnosis of SDS is made. Short stature and recurrent infections are common.|GeneReviews|N|
C4693325|GRIN1-related neurodevelopmental disorder (GRIN1-NDD) is characterized by mild-to-profound developmental delay / intellectual disability (DD/ID) in all affected individuals. Other common manifestations are epilepsy, muscular hypotonia, movement disorders, spasticity, feeding difficulties, and behavior problems. A subset of individuals show a malformation of cortical development consisting of extensive and diffuse bilateral polymicrogyria. To date, 72 individuals with GRIN1-NDD have been reported.|GeneReviews|N|
C4693347|ALKKUCS is an autosomal recessive severe neurodevelopmental disorder characterized by arthrogryposis, brain abnormalities associated with cerebral parenchymal underdevelopment, and global developmental delay. Most affected individuals die in utero or soon after birth. Additional abnormalities may include hypotonia, dysmorphic facial features, and involvement of other organ systems, such as cardiac or renal. The few patients who survive have variable intellectual disability and may have seizures (summary by Gueneau et al., 2018).|OMIM|N|
C4693357|A primary immunodeficiency disease that results from defeciency in the number or function of CD56+CD3- NK cell in peripheral blood.|MONDO|N|
C4693362|Developmental and epileptic encephalopathy-92 (DEE92) is characterized in most patients by onset of seizures in infancy or childhood and associated with global developmental delay and variable impairment of intellectual development. The seizure type and severity varies, and seizures may be intractable in some patients. Some patients are severely affected, unable to walk or speak, whereas others show some development. Additional neurologic features, including cortical blindness, dystonia, and spasticity, may occur. Mutations occur de novo (summary by Hamdan et al., 2017).
For a discussion of genetic heterogeneity of DEE, see 308350.|OMIM|N|
C4693367|Developmental and epileptic encephalopathy-58 (DEE58) is a severe neurodevelopmental disorder characterized by the onset of infantile spasms and refractory seizures in the first days or months of life. Affected individuals have global developmental delay with impaired intellectual development, usually with absent speech and inability to walk. Additional features include optic atrophy with poor or absent visual fixation, hypotonia, feeding difficulties, and spasticity (summary by Hamdan et al., 2017).
For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350.|OMIM|N|
C4693376|DEDSM is a neurodevelopmental disorder characterized by global developmental delay, variable intellectual disability, and early-onset seizures with a myoclonic component. Most patients have delayed motor development and show abnormal movements, including ataxia, dystonia, and tremor (summary by Hamdan et al., 2017).|OMIM|N|
C4693381|An autosomal dominant subtype of amyotrophic lateral sclerosis caused by mutation(s) in the ANXA11 gene, encoding annexin A11.|NCI|N|
C4693390|NEDMEBA is an autosomal recessive neurodegenerative disorder characterized by global developmental delay, severe intellectual disability with poor or absent speech and autistic stereotypic behaviors, microcephaly, early-onset generalized seizures, and hypotonia (summary by Marin-Valencia et al., 2018).|OMIM|N|
C4693391|Neurodevelopmental disorder with or without seizures and gait abnormalities (NEDSGA) is an autosomal dominant disorder characterized by global developmental delay apparent from infancy or early childhood, resulting in variably impaired intellectual development that can range from profound with absent speech to mild with an ability to attend special schools. Most affected individuals show irritability, stiffness, and hypertonia early in life, which progresses to spasticity and impaired gait later. Some patients may develop seizures of variable severity early in life (summary by Martin et al., 2017).|OMIM|N|
C4693405|Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features (NEDMAGA) is characterized by infantile-onset global developmental delay with severe to profound intellectual disability, mildly delayed walking with broad-based and unsteady gait, and absence of meaningful language. Patients have features of autism, with repetitive behaviors and poor communication, but usually are socially reactive and have a happy demeanor. More variable neurologic features include mild seizures, spasticity, and peripheral neuropathy (summary by Palmer et al., 2017).|OMIM|N|
C4693420|Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013).
There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, 218330).
For a discussion of genetic heterogeneity of short-rib thoracic dysplasia with or without polydactyly, see SRTD1 (208500).|OMIM|N|
C4693450|COXPD34 is an autosomal recessive disorder resulting from a defect in mitochondrial function. The phenotype is variable, but may include congenital sensorineural deafness, increased serum lactate, and hepatic and renal dysfunction. Neurologic function is relatively preserved (summary by Menezes et al., 2015).
For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060).|OMIM|N|
C4693466|Combined oxidative phosphorylation deficiency-35 (COXPD35) is an autosomal recessive disorder characterized mainly by global developmental delay with intellectual disability, microcephaly, and early-onset myoclonic and other types of seizures. Affected individuals have variable deficiencies of mitochondrial respiratory enzyme complexes resulting from a defect in mitochondrial metabolism (summary by Kernohan et al., 2017).
For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060).|OMIM|N|
C4693472|PCLD3 is an autosomal dominant disorder characterized by the development of multiple liver cysts that usually becomes apparent in adulthood. Liver cysts range in size and number, and the clinical severity is variable. Most patients also have a few renal cysts, but they do not result in significant renal disease or renal failure (summary by Besse et al., 2017).
For a discussion of genetic heterogeneity of polycystic liver disease, see PCLD1 (174050).|OMIM|N|
C4693479|PCLD4 is an autosomal dominant disease characterized by adult-onset of liver cysts arising from the bile duct epithelium. Some patients may develop a few kidney cysts, but these are often incidental and do not result in renal failure (summary by Cnossen et al., 2014).
For a discussion of genetic heterogeneity of polycystic liver disease, see PCLD1 (174050).|OMIM|N|
C4693498|Leber congenital amaurosis with early-onset deafness (LCAEOD) is an autosomal dominant syndrome manifesting as early-onset and severe photoreceptor and cochlear cell loss. Some patients show extinguished responses on electroretinography and moderate to severe hearing loss at birth (Luscan et al., 2017).|OMIM|N|
C4693509|CMTDIG is an autosomal dominant neurologic disorder with a highly variable phenotype. Most affected individuals have onset in the first or second decades of slowly progressive distal motor weakness and atrophy, resulting in gait instability and distal upper limb impairment, as well as distal sensory impairment. More severely affected individuals may have pes cavus and claw hands and become wheelchair-bound, whereas other affected individuals have later onset with a milder disease course. Electrophysiologic studies tend to show median motor nerve conduction velocities (NCV) in the 'intermediate' range, between 25 and 45 m/s (summary by Berciano et al., 2017).
In a review of intermediate CMT, Berciano et al. (2017) noted that advanced axonal degeneration may induce secondary demyelinating changes resulting in decreased NCV and attenuated compound muscle action potential (CMAP) in median nerve conduction studies. They thus suggested that testing the upper arm, axilla to elbow, may provide more accurate assessment of NCV and CMAP and reveal an intermediate phenotype (review by Berciano et al., 2017).
For a discussion of genetic heterogeneity of CMTDI, see 606482.|OMIM|N|
C4693522|Patients with biallelic mutations in the ADCY3 gene show hyperphagia within the first 2 years of life and develop severe obesity. Other features include hyposmia or anosmia, and some patients exhibit mild to moderate intellectual disability (Saeed et al., 2018).|OMIM|N|
C4693523|Amyotrophic lateral sclerosis-24 (ALS24) is a fatal neurodegenerative disease characterized by adult-onset loss of motor neurons (Brenner et al., 2016).|OMIM|N|
C4693524|Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013).
There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, 218330).
For a discussion of genetic heterogeneity of short-rib thoracic dysplasia with or without polydactyly, see SRTD1 (208500).|OMIM|N|
C4693531|Multiple synostoses syndrome-4 is characterized by fusion of carpal and tarsal bones, as well as conductive hearing loss (Terhal et al., 2018).
For a general phenotypic description and a discussion of genetic heterogeneity of multiple synostoses syndrome, see SYNS1 (186500).|OMIM|N|
C4693535|Hypomyelinating leukodystrophy-14 is an autosomal recessive neurodevelopmental disorder characterized by hypotonia, almost complete lack of motor or cognitive skills, and absent language development. Additional features include spasticity and intractable seizures; many patients also have perceptive hearing loss and/or blindness. Most patients require tube feeding or ventilatory support, and most die in the first years of life. Brain imaging shows hypomyelination, small caudate and putamen, and cerebral and cerebellar atrophy (summary by Hamilton et al., 2017).
For a general phenotypic description and a discussion of genetic heterogeneity of hypomyelinating leukodystrophy, see 312080.|OMIM|N|
C4693546|NDPLHS is an autosomal dominant disorder characterized by developmental stagnation or regression apparent in the first years of life and manifest as loss of purposeful hand movements, loss of language, and intellectual disability. Additional features may include stereotypic movements, dystonia, gait abnormalities, sleep disturbances, and small hands and feet. The phenotype is reminiscent of Rett syndrome (RTT; 312750) (summary by Yoo et al., 2017).|OMIM|N|
C4693550|Developmental and epileptic encephalopathy-59 (DEE59) is characterized by severe global developmental delay apparent in infancy with onset of various types of seizures in the first months of life (range 3 to 11 months). The seizures are usually refractory and are often associated with hypsarrhythmia on EEG, although brain imaging is usually normal. More severely affected individuals may be unable to speak or walk, have poor interaction, and require a feeding tube (summary by the EuroEPINOMICS-RES Consortium et al., 2014).
For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350.|OMIM|N|
C4693552|Erythrocytosis-5 (ECYT5) is an autosomal dominant disorder characterized by increased red cell mass and typically elevated hemoglobin concentration and hematocrit. Some patients have increased serum EPO levels (summary by Zmajkovic et al., 2018).
For a general phenotypic description and a discussion of genetic heterogeneity of familial erythrocytosis, see ECYT1 (133100).|OMIM|N|
C4693578|An autosomal dominant condition caused by mutations(s) in the CTBP1 gene, encoding C-terminal-binding protein 1. It is characterized by hypotonia, ataxia, developmental delay, and tooth enamel defects.|NCI|N|
C4693583|Neurodegeneration with brain iron accumulation-7 (NBIA7) is characterized by iron accumulation in the basal ganglia and manifests as a progressive extrapyramidal syndrome with dystonia, rigidity, and choreoathetosis. Severity and rate of progression are variable (Drecourt et al., 2018).
For a general phenotypic description and a discussion of genetic heterogeneity of NBIA, see NBIA1 (234200).|OMIM|N|
C4693587|Neurodegeneration with brain iron accumulation-8 (NBIA8) is characterized by iron accumulation in the basal ganglia and manifests as a progressive extrapyramidal syndrome with dystonia, rigidity, and choreoathetosis (Drecourt et al., 2018).
For a general phenotypic description and a discussion of genetic heterogeneity of NBIA, see NBIA1 (234200).|OMIM|N|
C4693609|Amyotrophic lateral sclerosis is a neurodegenerative disorder clinically characterized by rapidly progressive muscle weakness and death due to respiratory failure. ALS25 may have a lower median age at onset (46.5 years) and longer median survival (10 years) than that found in epidemiologic studies (62.5 years and 20 to 30 months, respectively) (Nicolas et al., 2018).|OMIM|N|
C4693613|Juvenile myoclonic epilepsy-10 is an autosomal dominant seizure disorder with variable manifestations, even within families. Affected individuals have febrile, myoclonic, tonic-clonic, or absence seizures, although several seizure types can occur in the same individual. The age of onset also shows great variability: some patients present in the first years of life, whereas other have onset of seizures in teenage years. EEG typically shows 3.5 to 5 Hz polyspike wave discharges. There is evidence of incomplete penetrance (summary by Bailey et al., 2018).
For a general phenotypic description and a discussion of genetic heterogeneity of juvenile myoclonic epilepsy, see 254770.|OMIM|N|
C4693616|Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013).
There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, 218330).|OMIM|N|
C4693660|Keratoconus-9 (KTCN9), a degenerative corneal disease with onset during adolescence, is characterized by corneal ectasia, thinning, and cone-shaped protrusion that results in reduced vision (Hao et al., 2017).
For a discussion of genetic heterogeneity of keratoconus, see 148300.|OMIM|N|
C4693663|Developmental and epileptic encephalopathy-60 (DEE60) is an autosomal recessive neurologic disorder characterized by the onset of infantile spasms, seizures, or myoclonus in the first months of life. EEG typically shows hypsarrhythmia, consistent with a clinical diagnosis of West syndrome. Affected individuals have severe global developmental delay with inability to sit, walk, or speak. Brain imaging may show brain atrophy and hippocampal malrotation (summary by Mutoh et al., 2018).
For a discussion of genetic heterogeneity of DEE, see 308350.|OMIM|N|
C4693672|Spinocerebellar ataxia-47 (SCA47) is an autosomal dominant neurologic disorder characterized by slowly progressive gait ataxia. Additional features usually include diplopia, dysarthria, and dysmetria. Brain imaging shows atrophy of the cerebellar vermis. The age at onset is variable: affected members in 1 reported family developed symptoms as adults in their thirties or forties, whereas 1 unrelated girl had onset in the first decade (Gennarino et al., 2018).
For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (164400).|OMIM|N|
C4693688|Developmental and epileptic encephalopathy-61 (DEE61) is an autosomal recessive neurologic disorder characterized by the onset of refractory seizures in the first months or years of life. There is profound global developmental delay with intellectual disability, inability to walk, poor voluntary movements, spasticity, microcephaly, cerebral atrophy, and dysmorphic facial features (summary by Muona et al., 2016).
For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350.|OMIM|N|
C4693694|SCN3A-related neurodevelopmental disorder (SCN3A-ND) encompasses a spectrum of clinical severity associated with epilepsy and/or brain malformation. Affected individuals may have (a) developmental and epileptic encephalopathy (DEE) (i.e., intractable seizures with developmental delays associated with ongoing epileptiform EEG activity) with or without malformations of cortical development; or (b) malformations of cortical development with or without mild focal epilepsy. Some degree of early childhood developmental delay is seen in all affected individuals; the severity varies widely, ranging from isolated speech delay to severe developmental delay. Infantile hypotonia is common but may be mild or absent in those without DEE. In those with DEE, seizure onset is typically in the first six to 12 months of life. A variety of seizure types have been described. Seizures remain intractable to multiple anti-seizure medications in approximately 50% of individuals with DEE without malformations of cortical development (MCD) and in 90% of individuals with DEE and MCD. Seizures may be absent or infrequent in those without DEE. Brain MRI findings range from normal to showing thinning or hypoplasia of the corpus callosum, to various malformations of cortical development. Autonomic dysregulation, oromotor dysfunction leading to the need for gastrostomy tube placement, progressive microcephaly, hyperkinetic movement disorder, and cortical visual impairment can also be seen in those with DEE.|GeneReviews|N|
C4693699|SCN3A-related neurodevelopmental disorder (SCN3A-ND) encompasses a spectrum of clinical severity associated with epilepsy and/or brain malformation. Affected individuals may have (a) developmental and epileptic encephalopathy (DEE) (i.e., intractable seizures with developmental delays associated with ongoing epileptiform EEG activity) with or without malformations of cortical development; or (b) malformations of cortical development with or without mild focal epilepsy. Some degree of early childhood developmental delay is seen in all affected individuals; the severity varies widely, ranging from isolated speech delay to severe developmental delay. Infantile hypotonia is common but may be mild or absent in those without DEE. In those with DEE, seizure onset is typically in the first six to 12 months of life. A variety of seizure types have been described. Seizures remain intractable to multiple anti-seizure medications in approximately 50% of individuals with DEE without malformations of cortical development (MCD) and in 90% of individuals with DEE and MCD. Seizures may be absent or infrequent in those without DEE. Brain MRI findings range from normal to showing thinning or hypoplasia of the corpus callosum, to various malformations of cortical development. Autonomic dysregulation, oromotor dysfunction leading to the need for gastrostomy tube placement, progressive microcephaly, hyperkinetic movement disorder, and cortical visual impairment can also be seen in those with DEE.|GeneReviews|N|
C4693704|Shwachman-Diamond syndrome (SDS) is characterized by: exocrine pancreatic dysfunction with malabsorption, malnutrition, and growth failure; hematologic abnormalities with single- or multilineage cytopenias and susceptibility to myelodysplasia syndrome (MDS) and acute myelogeneous leukemia (AML); and bone abnormalities. In almost all affected children, persistent or intermittent neutropenia is a common presenting finding, often before the diagnosis of SDS is made. Short stature and recurrent infections are common.|GeneReviews|N|
C4693733|Hypomyelinating leukodystrophy-15 is an autosomal recessive neurodegenerative disorder characterized by onset of motor and cognitive impairment in the first or second decade of life. Features include dystonia, ataxia, spasticity, and dysphagia. Most patients develop severe optic atrophy, and some have hearing loss. Brain imaging shows hypomyelinating leukodystrophy with thin corpus callosum. The severity of the disorder is variable (summary by Mendes et al., 2018)
For a discussion of genetic heterogeneity of HLD, see 312080.|OMIM|N|
C4693736|Osteogenesis imperfecta type XVIII (OI18) is characterized by congenital bowing of the long bones, wormian bones, blue sclerae, vertebral collapse, and multiple fractures in the first years of life (Doyard et al., 2018).|OMIM|N|
C4693741|Multiple mitochondrial dysfunctions syndrome-6 is an autosomal recessive severe neurodegenerative disorder with onset in early childhood. Affected individuals may have initial normal development, but show neurologic regression in the first year of life. They have hypotonia, inability to walk, poor speech, intellectual disability, and motor abnormalities, such as ataxia, dystonia, and spasticity. Some patients may die in childhood. Laboratory evidence indicates that the disorder results from mitochondrial dysfunction (summary by Vogtle et al., 2018).
For a general description and a discussion of genetic heterogeneity of multiple mitochondrial dysfunctions syndrome, see MMDS1 (605711).|OMIM|N|
C4693750|Among the 5 taste modalities recognized by humans (bitter, sweet, sour, umami, and salty), bitter taste plays an important protective role because many plant toxins have a bitter taste. The G protein-coupled receptor encoded by TAS2R16 mediates response to salicin, amygdalin, and many bitter beta-glucopyranosides. Beta-glucopyranosides are synthesized by over 2,500 plant and insect species as a protection against predators. This family also includes various toxic cyanogenic glycosides (summary by Soranzo et al., 2005).|OMIM|N|
C4693751|Spermatogenic failure-24 (SPGF24) is characterized by multiple morphologic abnormalities of the flagella (MMAF), including absent, short, coiled, bent, and irregular-caliber flagella. Malformations of the sperm head have also been observed. In addition, patients exhibit very low sperm concentrations and total sperm counts per ejaculate (Dong et al., 2018).
For a general phenotypic description and a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).|OMIM|N|
C4693760|Decreased size of the head of sperm.|HPO|N|
C4693765|Spermatogenic failure-25 (SPGF25) is characterized by small testes and infertility, with severe oligozoospermia or azoospermia due to maturation arrest at the primary spermatocyte stage (Okutman et al., 2015).
For a general phenotypic description and a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).|OMIM|N|
C4693770|A type of oligozoospermia characterized by a total number of more than 2 but less than 10 million sperm in the ejaculate or a concentration of more than 1 but less than 5 million sperm per milliliter.|HPO|N|
C4693773|Spermatogenic failure-26 (SPGF26) is characterized by acephalic spermatozoa due to breakage that occurs in the midpiece of the sperm (Sha et al., 2018).
For a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).|OMIM|N|
C4693779|Hypomyelinating leukodystrophy-16 is an autosomal dominant neurologic disorder characterized by onset of hypotonia, nystagmus, and mildly delayed motor development in infancy. Affected individuals have motor disabilities, including ataxic or broad-based gait, hyperreflexia, intention tremor, dysmetria, and a mild pyramidal syndrome. Some patients have cognitive impairment, whereas others may have normal cognition or mild intellectual disability with speech difficulties. Brain imaging typically shows hypomyelination, leukodystrophy, and thin corpus callosum (summary by Simons et al., 2017).
For a general phenotypic description and a discussion of genetic heterogeneity of hypomyelinating leukodystrophy, see 312080.|OMIM|N|
C4693784|Spermatogenic failure-27 (SPGF27) is characterized by infertility due to multiple morphologic abnormalities of the sperm flagella (MMAF), a phenotype also designated as 'dysplasia of the fibrous sheath,' 'short tails,' or 'stump tails.' Spermatozoa in the ejaculate exhibit short, irregular, coiled, or absent flagella. Ultrastructural analysis shows loss of the central pair of microtubules, loss of the inner dynein arms, and peripheral doublet disorganization (Lores et al., 2018).
For a discussion of the phenotypic and genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).|OMIM|N|
C4693795|LDLCQ7 is a quantitative trait affecting LDL levels that is effected through the NPC1L1 gene, which is responsible for the intestinal absorption of cholesterol. NPC1L1 is the molecular target for the drug ezetimibe, and variants in this gene affect response to this drug.|OMIM|N|
C4693796|The RH-null phenotype designates rare individuals whose red blood cells lack all Rh antigens. Two RH-null types, the regulator type (RHNR; 268150) and the amorph type (RHNA), arising from independent genetic mechanisms have been distinguished. The regulator type is caused by mutation in the RHAG gene (180297). The amorph type arises from mutations at the RH locus itself that silence Rh expression. The RH locus contains the RHD (111680) and RHCE genes tandemly arranged at chromosome 1p36-p34. Four genes must therefore be silenced to produce the RH-null phenotype. The absence of the D antigen, produced by the RHD gene, is common in the human population; the D-negative phenotype may result from deletion or genetic alteration of the RHD gene. The RH-null amorph phenotype thus arises from inactivating mutations in RHCE on a D-negative background (summary by Huang et al., 1998 and Huang et al., 2000).
Clinically, Rh-null patients present mild to moderate hemolytic anemia; cells exhibit characteristic morphologic and functional abnormalities including spherocytosis, stomatocytosis, and diminished lifespan. Rh-null patients rarely develop antibodies without stimulation, and most cases occur in response to pregnancy or transfusion (Silvy et al., 2015).|OMIM|N|
C4693798|Methemoglobinemia is a clinical condition in which more than 1% of hemoglobin is oxidized to methemoglobin, a type of hemoglobin that contains the ferric (Fe3+) form of iron. Patients with hemoglobin M are cyanotic but otherwise asymptomatic. If the mutation occurs in the hemoglobin alpha subunit, cyanosis is apparent at birth, whereas if the beta chain (141900) is affected, cyanosis appears later or intensifies when beta subunit production increases. If a newborn carries a fetal M hemoglobin (gamma subunit; 142250), cyanosis disappears when the complete gamma-beta-switch occurs (summary by Mansouri and Lurie, 1993).|OMIM|N|
C4693799|Spondyloepimetaphyseal dysplasia of the Di Rocco type (SEMDDR) is characterized by short stature, joint pain, and genu varum, as well as SEMD involving primarily the hips but also affecting the wrists, hands, knees, and ankles. Patients also exhibit variable degrees of metaphyseal and spine involvement (Di Rocco et al., 2018).|OMIM|N|
C4693810|Developmental and epileptic encephalopathy-63 (DEE63) is an autosomal recessive neurologic disorder characterized by early-onset refractory infantile spasms and myoclonic seizures in the first months to years of life. Affected individuals have severe to profound developmental delay, often with hypotonia and inability to sit or speak (summary by Redler et al., 2017).
For a discussion of genetic heterogeneity of DEE, see 308350.|OMIM|N|
C4693816|El-Hattab-Alkuraya syndrome is characterized by microcephaly (often early onset and progressive); severe-to-profound developmental delay; refractory and early-onset seizures; spastic quadriplegia with axial hypotonia; and growth deficiency with poor weight gain and short stature. Characteristic findings on brain imaging include cerebral atrophy that is disproportionately most prominent in the frontal lobes; ex vacuo ventricular dilatation with notable posterior horn predominance; brain stem volume loss with flattening of the belly of the pons; and symmetric under-opercularization. Neurologic involvement is progressive, with significant morbidity and mortality.|GeneReviews|N|
C4693822|Familial erythrocytosis-6 is characterized by an increased oxygen affinity of hemoglobin (Hb), which results in decreased delivery of oxygen into the peripheral tissues and compensatory polycythemia. Patients are generally asymptomatic, as compensatory polycythemia assures normal oxygen tissue delivery. Patients have normal red cell morphology (summary by Kralovics and Prchal, 2000). Wajcman and Galacteros (2005) noted that although high oxygen affinity hemoglobins are usually well tolerated in young patients, they can lead to thrombotic complications in older patients or when they are associated with another cause that increases thrombotic risk. Wajcman and Galacteros (2005) also noted that the effect of increased oxygen affinity of Hb caused by an alpha chain variant (see 617981) is usually milder than that caused by a beta chain variant.|OMIM|N|
C4693823|Familial erythrocytosis-7 (ECYT7) is characterized by an increased oxygen affinity of hemoglobin (Hb), which results in decreased delivery of oxygen into the peripheral tissues and compensatory polycythemia. Patients are generally asymptomatic, as compensatory polycythemia assures normal oxygen tissue delivery. Patients have normal red cell morphology (summary by Kralovics and Prchal, 2000). Wajcman and Galacteros (2005) noted that although high oxygen affinity hemoglobins are usually well tolerated in young patients, they can lead to thrombotic complications in older patients or when they are associated with another cause that increases thrombotic risk. Wajcman and Galacteros (2005) also noted that the effect of increased oxygen affinity of Hb caused by an alpha chain variant is usually milder than that caused by a beta chain variant (see 617980).|OMIM|N|
C4693824|Ververi-Brady syndrome (VEBRAS) is characterized by mild developmental delay, mildly impaired intellectual development and speech delay, and mild dysmorphic facial features. Affected individuals can usually attend mainstream schools with support, and may also show autistic features (summary by Ververi et al., 2018).|OMIM|N|
C4693848|JABELS is an autosomal recessive neurodevelopmental disorder characterized by developmental delay and intellectual disability with additional variable features. Patients have onset of symptoms in infancy, but the severity is highly variable. Some patients have social interaction and learn to walk but have an ataxic gait and abnormal movements, such as tremor or dystonia, whereas others do not achieve any motor control and are unable to speak. Additional features may include retinal anomalies, visual impairment, microcephaly, abnormal foot or hand posturing, and kyphoscoliosis; some patients have dysmorphic facial features or seizures. Brain imaging typically shows cerebellar atrophy and hypoplasia of the corpus callosum (summary by et al., 2016 and Bertoli-Avella et al., 2018).|OMIM|N|
C4693860|Chung-Jansen syndrome (CHUJANS) is characterized by global developmental delay apparent from infancy, impaired intellectual development or learning difficulties, behavioral abnormalities, dysmorphic features, and obesity. The severity of the phenotype and additional features are variable (summary by Jansen et al., 2018).|OMIM|N|
C4693863|Hyperphosphatemic familial tumoral calcinosis is a rare autosomal recessive metabolic disorder characterized by the progressive deposition of basic calcium phosphate crystals in periarticular spaces, soft tissues, and sometimes bone (Chefetz et al., 2005). The biochemical hallmark of tumoral calcinosis is hyperphosphatemia caused by increased renal absorption of phosphate due to loss-of-function mutations in the FGF23 or GALNT3 (601756) gene. The term 'hyperostosis-hyperphosphatemia syndrome' is sometimes used when the disorder is characterized by involvement of the long bones associated with the radiographic findings of periosteal reaction and cortical hyperostosis. Although some have distinguished HHS from FTC by the presence of bone involvement and the absence of skin involvement (Frishberg et al., 2005), Ichikawa et al. (2010) concluded that the 2 entities represent a continuous spectrum of the same disease, best described as familial hyperphosphatemic tumoral calcinosis.
HFTC is considered to be the clinical converse of autosomal dominant hypophosphatemic rickets (ADHR; 193100), an allelic disorder caused by gain-of-function mutations in the FGF23 gene and associated with hypophosphatemia and decreased renal phosphate absorption (Chefetz et al., 2005; Ichikawa et al., 2005).
For a general phenotypic description and a discussion of genetic heterogeneity of HFTC, see 211900.|OMIM|N|
C4693864|Hyperphosphatemic familial tumoral calcinosis (HFTC) is a rare autosomal recessive metabolic disorder characterized by the progressive deposition of basic calcium phosphate crystals in periarticular spaces, soft tissues, and sometimes bone (Chefetz et al., 2005). The biochemical hallmark of tumoral calcinosis is hyperphosphatemia caused by increased renal absorption of phosphate due to loss-of-function mutations in the FGF23 (605380) or GALNT3 (601756) gene. The term 'hyperostosis-hyperphosphatemia syndrome' (HHS) is sometimes used when the disorder is characterized by involvement of the long bones associated with the radiographic findings of periosteal reaction and cortical hyperostosis. Although some have distinguished HHS from FTC by the presence of bone involvement and the absence of skin involvement (Frishberg et al., 2005), Ichikawa et al. (2010) concluded that the 2 entities represent a continuous spectrum of the same disease, best described as familial hyperphosphatemic tumoral calcinosis.
HFTC is considered to be the clinical converse of autosomal dominant hypophosphatemic rickets (ADHR; 193100), an allelic disorder caused by gain-of-function mutations in the FGF23 gene and associated with hypophosphatemia and decreased renal phosphate absorption (Chefetz et al., 2005; Ichikawa et al., 2005).
For a general phenotypic description and a discussion of genetic heterogeneity of HFTC, see 211900.|OMIM|N|
C4693865|Oocyte/zygote/embryo maturation arrest-5 (OZEMA5) is characterized by female infertility due to inability of the oocyte to exit metaphase II, resulting in fertilization failure (Sang et al., 2018).
For a discussion of genetic heterogeneity of OZEMA, see 615774.|OMIM|N|
C4693870|Ehlers-Danlos syndrome classic-like-2 (EDSCLL2) is characterized by severe joint and skin laxity, osteoporosis involving the hips and spine, osteoarthritis, soft redundant skin that can be acrogeria-like, delayed wound healing with abnormal atrophic scarring, and shoulder, hip, knee, and ankle dislocations. Variable features include gastrointestinal and genitourinary manifestations, such as bowel rupture, gut dysmotility, cryptorchidism, and hernias; vascular complications, such as mitral valve prolapse and aortic root dilation; and skeletal anomalies (Blackburn et al., 2018).
See 606408 for another classic-like EDS syndrome. For a discussion of the classification of EDS, see 130000.|OMIM|N|
C4693889|Abnormally reduced amount of collagen fibers in the dermis.|HPO|N|
C4693893|Autosomal recessive deafness-57 (DFNB57) is characterized by symmetric bilateral moderate to severe hearing loss, represented by gently downward-sloping audiograms. The hearing loss may be mildly progressive (Guan et al., 2018).|OMIM|N|
C4693899|Developmental and epileptic encephalopathy-64 (DEE64) is a neurodevelopmental disorder characterized by onset of seizures usually in the first year of life and associated with intellectual disability, poor motor development, and poor or absent speech. Additional features include hypotonia, abnormal movements, and nonspecific dysmorphic features. The severity is variable: some patients are unable to speak, walk, or interact with others as late as the teenage years, whereas others may have some comprehension (summary by Straub et al., 2018).
For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350.|OMIM|N|
C4693905|Congenital disorder of glycosylation with defective fucosylation is an autosomal recessive multisystem disorder apparent from birth. Affected infants have poor growth, failure to thrive, hypotonia, skeletal anomalies, and delayed psychomotor development with intellectual disability. Additional highly variable congenital defects may be observed (summary by Ng et al., 2018).
Genetic Heterogeneity of Congenital Disorders of Glycosylation with Defective Fucosylation
See also CDGF2 (618323), caused by mutation in the FCSK gene (608675) on chromosome 16q22.
For an overview of congenital disorders of glycosylation (CDG), see CDG1A (212065) and CDG2A (212066).|OMIM|N|
C4693912|Hypomyelinating leukodystrophy-17 is an autosomal recessive neurodevelopmental disorder characterized by poor, if any, development apparent from infancy. Affected individuals never learn to walk or speak, and have early-onset multifocal seizures, spasticity, poor overall growth, and microcephaly (up to -10 SD). Brain imaging shows multiple abnormalities, including cerebral and cerebellar atrophy, thin corpus callosum, abnormal signals in the basal ganglia, and features suggesting hypo- or demyelination. Some patients may die in childhood (summary by Shukla et al., 2018).
For a general phenotypic description and a discussion of genetic heterogeneity of hypomyelinating leukodystrophy, see 312080.|OMIM|N|
C4693925|Developmental and epileptic encephalopathy-65 (DEE65) is characterized by onset of intractable seizures of various types usually within the first months or years of life, severe to profound psychomotor developmental delay, and mild facial dysmorphism (summary by Nakashima et al., 2018).
For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350.|OMIM|N|
C4693933|Hyperekplexia-4 is an autosomal recessive severe neurologic disorder apparent at birth. Affected infants have extreme hypertonia and appear stiff and rigid. They have little if any development, poor or absent visual contact, and no spontaneous movement, consistent with an encephalopathy. Some patients have early-onset refractory seizures, and many have inguinal or umbilical hernia. Most patients die in the first months of life due to respiratory failure or other complications (summary by Piard et al., 2018).
For a general description and a discussion of genetic heterogeneity of hyperekplexia, see HKPX1 (149400).|OMIM|N|
C4693934|Developmental and epileptic encephalopathy (DEE93) is an autosomal dominant neurologic disorder characterized by delayed psychomotor development, early-onset refractory seizures, and impaired intellectual development. The severity of the phenotype is highly variable: some patients may be nonverbal and nonambulatory with spastic quadriparesis and poor eye contact, whereas others have moderate intellectual disability (summary by Fassio et al., 2018).
For a discussion of genetic heterogeneity of DEE, see 308350.|OMIM|N|
C4693935|DFNB109 is characterized by bilateral congenital severe to profound sensorineural hearing loss. In addition, affected individuals exhibit vestibular dysplasia on CT scan, although they do not manifest problems with balance or movement (Rohacek et al., 2017).|OMIM|N|
C4693941|Premature ovarian failure-14 (POF14) is characterized by amenorrhea, hypoestrogenism, and elevated gonadotropin levels (Franca et al., 2018).
For a general phenotypic description and discussion of genetic heterogeneity of premature ovarian failure, see POF1 (311360).|OMIM|N|
C4693947|Erythropoietic porphyria-2 is an autosomal dominant metabolic disorder of heme biosynthesis, resulting in abnormal accumulation of the heme biosynthesis intermediate protoporphyrin IX (PPIX). Affected individuals may have photosensitivity (summary by Yien et al., 2017)
For discussion of genetic heterogeneity of EPP, see EPP1 (177000).|OMIM|N|
C4693948|CYP2C8 is involved in the metabolism of a multitude of chemically diverse medications, including nonsteroidal antiinflammatory drugs, thiazolidinediones, and chemotherapeutic agents (summary by Zhou et al., 2017).
Backman et al. (2016) reviewed the role of CYP2C8 in clinically relevant drug interactions.|OMIM|N|
C4698079|Eastern Cooperative Oncology Group Performance Status ECOG101 Original Result - Fully active, able to carry on all pre-disease performance without restriction.|NCI|N|
C4698080|Eastern Cooperative Oncology Group Performance Status ECOG101 Original Result - Restricted in physically strenuous activity but ambulatory and able to carry out work of a light or sedentary nature, e.g., light house work, office work.|NCI|N|
C4698081|Eastern Cooperative Oncology Group Performance Status ECOG101 Original Result - Ambulatory and capable of all selfcare but unable to carry out any work activities. Up and about more than 50% of waking hours.|NCI|N|
C4698082|Eastern Cooperative Oncology Group Performance Status ECOG101 Original Result - Capable of only limited selfcare, confined to bed or chair more than 50% of waking hours.|NCI|N|
C4698083|Eastern Cooperative Oncology Group Performance Status ECOG101 Original Result - Completely disabled. Cannot carry on any selfcare. Totally confined to bed or chair.|NCI|N|
C4698437|Not expected or scheduled.|NCI|N|
C4699378|An indication that the expression of a gene, transcript or protein is higher than a previous value or a normal range of values.|NCI|N|
C4699379|An indication that the expression of a gene, transcript or protein is lower than a previous value or a normal range of values.|NCI|N|
C4700166|The lemon sign refers to the shape of the fetal skull at ultrasonography (US) when the frontal bones lose their normal convex contour and appear flattened or inwardly scalloped. This gives the skull a shape that is said to resemble a lemon.. The sign is seen on transverse sonograms of the fetal cranium obtained at the level of the ventricles.|HPO|N|
C4700190|To change places with or relocate to a different position or context.|NCI|N|
C4700504|A congenital disorder of glycosylation involve disrupted synthesis of the lipid-linked oligosaccharide precursor.|MONDO|N|
C4702813|An amino acid metabolic disorder characterized by impairment of the GABA catabolic pathway.|MONDO|N|
C4703375|In type IV atherosclerotic lesions a dense accumulation of extracellular lipid occupies an extensive but well-defined region of the intima. This type of extracellular lipid accumulation is known as the lipid core. A fibrous tissue increase is not a feature, and complications such as defects of the lesion surface and thrombosis are not present. The type IV lesion is also known as atheroma. Type IV is the first lesion considered advanced in this classification because of the severe intimal disorganization caused by the lipid core. The characteristic core appears to develop from an increase and the consequent confluence of the small isolated pools of extracellular lipid that characterize type III lesions. The increase in lipid is believed to result from continued insudation from the plasma. Type IV lesions, when they first appear in younger people, are found in the same locations as adaptive intimal thickenings of the eccentric type. Thus, atheroma is, at least initially, an eccentric lesion.|HPO|N|
C4703376|An elevated proportion of T cells that express human leukocyte antigen (HLA)-DR. HLA-DR is an MHC class II cell surface receptor that presents antigens (peptides of at least 9 amino acids), thereby constituting a ligand for the T-cell receptor. HLA-DR can be upregulated in response to immune stimulation.|HPO|N|
C4703378|A lack of coordination of leg movement manifested by undershoot or overshoot of the intended position of the leg.|HPO|N|
C4703379|A type of incomitant strabismus in which the angle of deviation varies as the patient's gaze shifts upwards and/or downwards.|HPO|N|
C4703381|A reduction in the numbers of pro-B cells (defined by coexpression of CD34 and CD19). Earlier B-cell precursors are defined by expressing surface CD34 and cytoplasmic TdT in the absence of CD19.|HPO|N|
C4703382|The presence of autoantibodies in the serum that react against granulocyte-macrophage colony stimulating factor.|HPO|N|
C4703383|Lamellar cataracts with associated linear lens opacities radially extending towards the periphery of the lens.|HPO|N|
C4703384|Anterior chamber cells with 6-15 cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp.|HPO|N|
C4703385|Anterior chamber cells with 1-5 cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp.|HPO|N|
C4703386|Anterior chamber cells with less than one cell in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp.|HPO|N|
C4703387|Anterior chamber cells with 16-25 cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp.|HPO|N|
C4703388|Anterior chamber cells with 26-50 cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp.|HPO|N|
C4703389|Anterior chamber cells with more than 50 cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp.|HPO|N|
C4703391|Increased tendency of choiroidal blood vessels to allow fluids to leak characterized by multifocal choroidal hyperfluorescence on indocyanine green angiography (ICGA).|HPO|N|
C4703392|A type of cataract that shows a spectacular display of multiple colors that glitters with the change of incident light like an illuminated Christmas tree.|HPO|N|
C4703393|Any structural anomaly of the principal vein draining blood from the upper portion of the body and delivering it to the right ventricle of the heart.|HPO|N|
C4703394|Any structural anomaly of the principal vein draining blood from the lower portion of the body.|HPO|N|
C4703395|Any structural abnormality of the left atrium.|HPO|N|
C4703396|Any structural abnormality of the right atrium.|HPO|N|
C4703397|Bleeding occurring within the fovea.|HPO|N|
C4703398|Bleeding between the neurosensory retina and the retinal pigment epithelium (RPE) arising from the choroidal or retinal circulation.|HPO|N|
C4703399|Golden, scintillating, particulate reflection noted on fundus examination (typically in the macula and sparing the fovea). The term tapetal is used to describe this 'metallic' sheen appearance as it is thought to be similar to the 'tapetal' reflex seen in the eyes of certain animals.|HPO|N|
C4703400|Cyclodeviation is defined as the rotation of an eyeball along the anteroposterior axis and cyclotropia as a misalignment of cyclodeviation between the two eyes.|HPO|N|
C4703401|A functional anomaly of the muscles of the eye.|HPO|N|
C4703402|A functional anomaly of the superior oblique muscle, a fusiform muscle that originates in the upper, medial side of the orbit. The superior oblique muscle abducts, depresses and internally rotates the eye, and is the only extraocular muscle innervated by the fourth cranial nerve.|HPO|N|
C4703403|Decreased strength of the superior oblique muscle.|HPO|N|
C4703404|Mechanical limitation of the range of movement of the superior oblique muscle.|HPO|N|
C4703405|Reduced ocular movement of the superior oblique muscle which improves on testing ductions, typically associated with neurogenic palsy.|HPO|N|
C4703406|A functional anomaly of the inferior oblique muscle, an extraocular muscle that has its origin on the maxillary bone just posterior to the inferior medial orbital rim and lateral to the nasolacrimal canal and that is innervated by the inferior branch of the oculomotor nerve.|HPO|N|
C4703407|Mechanical limitation of the range of movement of the inferior oblique muscle.|HPO|N|
C4703408|Decreased strength of the inferior oblique muscle.|HPO|N|
C4703409|A functional anomaly of the inferior rectus muscle, which is innervated by the inferior division of oculomotor nerve and functions in the depression, adduction, and lateral rotation (extortion) of the eye.|HPO|N|
C4703410|Decreased strength of the inferior rectus muscle.|HPO|N|
C4703411|A functional anomaly of the superior rectus muscle, an extraocular muscle that is innervated by the superior division of the oculomotor nerve, and whose primary function is the elevation of the globe.|HPO|N|
C4703412|A schwannoma (benign, usually encapsulated slow growing tumor composed of Schwann cells) located in the orbit.|HPO|N|
C4703413|A functional anomaly of the medial rectus muscle, an extraocular muscle that is innervated by the inferior division of the oculomotor nerve and whose sole action is the adduction of the eyeball.|HPO|N|
C4703414|A type of blepharitis that affects the eyelid skin, base of the eyelashes, and the eyelash follicles.|HPO|N|
C4703415|A type of epicanthus in which more extensive epicanthal folds with their origins in the eyebrow cover, pass in front of and lateral to the medial canthus (middle corner of the eye).|HPO|N|
C4703416|A type of facial cleft located near to but not directly on the midline of the face.|HPO|N|
C4703417|As seen in a typical cleft lip, a cleft of the lip is found in the region of the cupid's bow. The nostril is cleft through the alar dome and extends above onto the nasal dorsum. It passes medial to a normal, but dys- topic, medial canthus. There is an alveolar cleft between the central and lateral incisors that extends above through the pyriform margin lateral to the anterior nasal spine; the nasal septum is not involved. The bony cleft extends through the nasal bone or between the junction of the nasal bone and frontal process of the maxilla. Above the cleft lip, the clefting of the alar dome is associated with deviation to the opposite side of the shortened and broadened columella and nasal tip. Extension of the soft tissue cleft onto the nasal dorsum can be manifest as a series of vertical soft tissue furrows and ridges. Vertical inner canthal dysto- pia and severe telecanthus mark the superior aspect of the Number 1 facial cleft. A cranial soft tissue extension characterized by a tongue-like projection of the frontal hairline delineates the number 13 cleft. Skeletal clefting of the maxilla may extend posteriorly to form a complete cleft of the hard and soft palate. The maxilla is hypoplastic in all three dimensions. There is a keel-shaped alveolus and anterior open bite. Normal septation is preserved between the nasal cavity and the hypoplastic maxillary antrum on the affected side. Distortion of the nasal skeleton produces gross flattening of the nasal dorsum. There is asymmetry of the pterygoid plates, of the greater and lesser wings of the sphenoid, and of the floor of the anterior cranial fossa. The distortion of the cranial base may result in a mild plagiocephaly.|HPO|N|
C4703418|As is typically seen in isolated cleft cases, a cleft of the lip is present. There is hypoplasia, but not true notching of the ala nasi with flattening of the lateral part of the nose. The nasal root is broadened, with lateral displacement of the inner canthus. The palpebral fissure and lacrimal drainage system are not disturbed. The alveolar cleft is through the lateral incisor area and extends to the pyriform aperture. There is normal septation between the nasal cavity and maxillary sinus. Notching at the junction between the nasal bone is present, as is a broad, flat frontal process of the maxilla. Transverse ethmoid enlargement produces orbital hypertelorism. Above the cleft of the lip and palate is a true broad cleft of the nostril that is medial to the intact, but laterally displaced, tail of the alar cartilage. A shallow soft tissue groove extends superiorly to the asymmetrically widened nasal root. The lacrimal system, palpebral fissures, and eyebrows remain intact. The alveolar cleft extends posteriorly as a complete unilateral cleft of the hard and soft palate. The nasal septum is intact but deviated to the opposite side. The nasal cavity remains separated from the normally pneumatized, although hypoplastic, maxilla on the cleft side. Above the nasomaxillary notching, the ethmoid sinus is less well developed, and there is no pneumatization of the frontal sinus on this side. Anterior rotation of the greater and lesser wings of the sphenoid occurs on the cleft side in relation to the narrower orbit and smaller ethmoid sinus. There is mild asymmetry of the anterior cranial fossa, which is narrower on the cleft side. The cranium is brachycephalic with marked occipital flattening.|HPO|N|
C4703419|As in the Number 1 and Number 2 clefts, this cleft extends through the lip in the region of the typical cleft lip; however, it does not extend through the base. The cleft continues superiorly to involve the inner canthus and lower eyelid medial to the inferior lacrimal punctum, thereby disrupting the nasolacrimal system. Microphthalmia may be present. The alveolar cleft is between the lateral incisor and the canine. Absent septation between the nasal cavity and maxillary antrum, together with the distortion of the frontal process of the maxilla and lacrimal fossa, produces direct communication between the orbit, maxillary sinus, and nose. There is hypoplasia of the soft tissue margins of the cleft in the vertical dimension. This produces extreme soft tissue deficiency between the alar base and the cleft of the medial aspect of the lower eyelid. The inferior lacrimal punctum is evident at the lateral margin of the lower eyelid cleft. The lacrimal drainage system ends as an opening directly onto the cheek without communication into the nasal cavity. The globe is normal in size, but it is displaced inferiorly and laterally. The nasal septum shows the characteristic distortion seen in typical cleft lip and palate. There is absence of septation between the nasal cavity on the cleft side and the maxilla. The maxilla is hypoplastic in three dimensions, with a marked reduction in pneumatization. Superior extension of the skeletal clefting into the medial portion of the orbital floor and into the inferior orbital rim in the region of the frontal process of the maxilla allows direct communication between the orbit above and the nasomaxillary region below. There is mild narrowing of the ethmoid sinus and of the body of the sphenoid on the cleft side. The pterygoid process appears anatomically normal, but less displaced from the midline compared with that of the noncleft side. Both the orbit and the floor of the anterior cranial fossa are inferiorly displaced.|HPO|N|
C4703420|The cleft lip is midway between the philtral ridge and the commissure of the mouth. The cleft is lateral to the normally shaped and placed nasal ala and passes onto the cheek. The cleft extends through the lower eyelid lateral to the punctum. The lacrimal system and inner canthus are normal. Microphthalmia may be present. The alveolar cleft passes between the lateral incisor and canine, as in the Number 3 cleft. The cleft passes around the pyriform aperture and continues through the portion of the maxillary sinus medial to the infraorbital foramen. The cleft terminates at the medial end of the inferior orbital rim. There is severe vertical soft tissue deficiency in a Number 4 cleft, with the medial margins of the cleft lip extending directly into the medially placed cleft of the lower eyelid. Within the medial segment of the right-sided cleft lip, muscle elements are apparently absent. Muscle bunching is noted in the ipsilateral lateral lip segment, as is seen in a typical unilateral cleft lip. The anatomically normal nasal ala is superiorly displaced in association with a severe deficiency in the overall nasal length. Marked dystopia of the right globe results in its inferior displacement into the medially deficient orbital floor and inferior rim. Both globes are otherwise normal. The complete palatal cleft passes through the maxilla medial to the infraorbital foramen and extends to the medial portion of the inferior orbital rim without evidence of an intact maxillary sinus. Bony septation persists medially, thereby separating the nasal cavity from the orbit, maxillary sinus, and mouth, which are contiguous. Marked midfacial hypoplasia is present. The cleft is manifest as asymmetry of the body of the sphenoid; it is smaller on the right, with asymmetric placement of the pterygoid plates relative to the midline. The orbital floor cleft has no communication with the inferior orbital fissure. The cleft does not extend to the skull base, but there is marked facial asymmetry associated with plagiocephaly.|HPO|N|
C4703422|This is an upper lateral orbital cleft. The soft tissue deformity is in the lateral one-third of the upper eyelid, and the bony cleft is through the superolateral orbital angle. Microphthalmia is present. The superolateral bony deficiency of the orbits allows a lateral displacement of the globes. The lateral one-third of the upper eyelid and the outer canthus are distorted, thus preventing apposition to the globe. The upper eyelid does not have a true cleft. A soft tissue furrow radiates superiorly and posterisphenoid is symmetric and normal. Mild cranial base asymmetry is reflected in the pterygoid plates. The left pair is more laterally displaced from the midline. Skull vault plagiocephaly is evident with an apparent reduction in the anteroposterior dimension of the anterior cranial fossa.|HPO|N|
C4703423|In a Number 10 Tessier cleft there is an upper central orbital cleft with a cleft of the middle one-third of the upper eyelid, which often results in total ablepharia. The eyebrow is disrupted, being virtually absent medially, whereas the lateral portion angles upward toward the frontal hairline. There may be ocular anomalies, including colobomata of the iris. The skeletal cleft is through the midportion of the supraorbital rim, the adjacent frontal bone, and the orbital roof lateral to the supraorbital nerve. A frontal encephalocele frequently occupies the frontal bony cleft. The palpebral fissure is grossly elongated with an amblyopic eye displaced inferiorly and laterally. There is also a divergent squint of the right eye. The eyebrow is deficient medially and becomes thinned out laterally , where it is contiguous with a broad downward and forward projection of the frontotemporal hairline (this may be seen in both the Number 9 and 10 clefts.) A broad frontal encephalocele bulges forward from the middle one-third of the right forehead, supraorbital ridge, and orbital roof. The bony cleft, through which the frontal encephalocele presents, involves the anterior half of the orbital roof, the supraorbital rim, and two-thirds of the vertical height of the frontal bone lateral to the supraorbital nerve. The bony orbit is inferiorly displaced and widened with the lateral orbital wall shortened and laterally deviated. Similar distortion of the anterior cranial fossa is evident, being broader and more flattened on the affected side. The calvarium above the level of the cleft and the cranial base below is symmetric.|HPO|N|
C4703424|An upper medial orbital cleft produces a cleft of the medial one-third of the upper eyelid that extends through the eyebrow into the frontal hairline. The skeletal element of the cleft in the region of the frontal process of the maxilla may either pass lateral to the ethmoid, through the supraorbital rim, or it may pass through the ethmoidal labyrinth to produce orbital hypertelorism. This cleft usually accompanies the Number 3 cleft. The soft tissue features include a cleft of the medial portion of the upper eyelid, an irregularity in hair orientation at the medial end of the eyebrow, and a long tongue-like projection of the frontal hairline onto the forehead. There is a mild flattening of the frontal process of the maxilla and extensive pneumatization of both the ethmoidal and frontal sinuses, both of which are more prominent on the cleft side. No bony clefting of the supraorbital rim or frontal bone is evident. The cranial base and sphenoid architecture, including the pterygoid processes, are symmetric and normal.|HPO|N|
C4703425|There is a soft tissue cleft medial to the inner canthus with a cleft of the root of the eyebrow. The frontal process of the maxilla is flat and broadened, and the ethmoid labyrinth is increased in tranverse dimension, thereby producing orbital hypertelorism. The cribriform plate is of normal width. The frontal sinus is enlarged. Even though the frontal bone is flattened, bony clefts with encephalocele have not been observed. There is a lateral displacement of the inner canthus with a mild thinning, aplasia, or irregularity of the medial end of the eyebrow. There are no eyelid clefts. The soft tissue contour of the forehead is normal, with only a short downward prolongation of the paramedian frontal hairline to mark the superior extent of the soft tissue cleft. Flattening of the frontal process of the maxilla, an increase in the transverse dimension of the ethmoid sinus, and a laterally convex bowing of the medial orbital wall produce orbital hypertelorism. Superiorly there is a minor flattening of the frontal bone medially, and the nasofrontal angle is somewhat obtuse. The extensive pneumatization of the sinuses on the cleft side extends backward through the frontal and ethmoid sinuses and into the sphenoid sinus. The anatomy of the sphenoid, including the pterygoid processes, is otherwise normal. The anterior and middle cranial fossae floors are both broadened on the cleft side with minor widening of the cribriform plate.|HPO|N|
C4703426|There is a paramedian frontal encephalocele and a soft tissue cleft that passes medial to an intact eyebrow. The frontal bone shows a paramedian bony cleft with an associated encephalocele. The olfactory groove, cribriform plate, and ethmoid sinus are all increased in transverse diameter, resulting in hypertelorism. The cleft extends medially to the undisturbed eyebrow to end in a short paramedian frontal widow's peak. The bony cleft begins in the region of the nasal bone and extends superiorly through the full height of the frontal bone. Posteriorly, the cleft extends through the cribriform plate and ethmoid sinus as far as the lesser wing and body of the sphenoid. The pterygoid processes are anatomically normal, but they are displaced laterally from the midline on the cleft side. There is orbital hypertelorism below and asymmetry of the floor of the anterior cranial fossa above.|HPO|N|
C4703427|A lower midline facial cleft, also known as the median mandibular cleft. It is a rare anomaly, which may be limited to a defect in the soft tissue of the lower lip. However, in the more severe form, it may extend into the bony mandibular symphysis.|HPO|N|
C4703428|A noticeably unhappy disposition is characterized by negative assumptions, self-defeating talk, fear of failure, and negative rumination about past events.|HPO|N|
C4703429|An abnormally large Eustachian valve (postnatally). The Eustachian valve is also known as the valve of the inferior vena cava, and is an embryologic remnant of the valve of the inferior vena cava.|HPO|N|
C4703431|An anomaly of the PR interval, which is the portion of the ECG from the onset of the P wave to the beginning of the QRS complex. A normal PR interval in adults is 0.12-0.2 seconds.|HPO|N|
C4703432|Any anomaly of the P wave of the EKG, which results from atrial depolarization. The P wave occurs when the sinoatrial node creates an action potential that depolarizes the atria.|HPO|N|
C4703433|An anomaly of the PR segment, which begins at the endpoint of the P wave and ends at the onset of the QRS complex. The PR segment is normally flat and isoelectric.|HPO|N|
C4703434|P wave below instead of above the baseline. P-wave inversion in the inferior leads may indicate a non-sinus origin of the P waves.|HPO|N|
C4703435|An anomaly in the system of mucociliary transport, which functions to transport the mucous layer lining the respiratory epithelium by ciliary beating.|HPO|N|
C4703436|An abnormally increased amount of time required to clear mucus (and substances contained in the mucus) from the nasal mucosa. The nasal mucociliary clearance (NMC) system functions to transport the mucous layer lining the nasal epithelium towards the naso pharynx by ciliary beating in a metachronous fashion at a frequency of 7-16 Hz. NMC depends upon two principal components|HPO|N|
C4703438|A developmental defect characterized by the lack of formation of the carotid canal, which normally is a circular aperture in the temporal bone of the skull through which the internal carotid artery and the carotid plexus of nerves traverse.|HPO|N|
C4703439|Any anomaly of the pigmentation of the fundus, the posterior part of the eye including the retina and optic nerve.|HPO|N|
C4703440|A type of intraretinal hemorrhage that is located in the superficial retina between the inner limiting membrane and the retinal nerve fiber layer.|HPO|N|
C4703441|Absence of a region of the retina, retinal pigment epithelium, and choroid at the lower part of the fundus.|HPO|N|
C4703442|A notch or cleft of the lower part of the retina.|HPO|N|
C4703443|Faint anterior chamber flare.|HPO|N|
C4703444|Moderate anterior chamber flare (iris and lens details clear).|HPO|N|
C4703445|Marked anterior chamber flare (iris and lens details hazy).|HPO|N|
C4703446|Intense anterior chamber flare (fibrin/plastic aqueous).|HPO|N|
C4703447|Absence of the normal opening of a coronary ostium. There are normally two coronary ostia, which are site of origin of the main left or right main coronary artery and are located in the ascending aorta just above the aortic valve.|HPO|N|
C4703448|Pathological deposition of calcium salts in the globus pallidus.|HPO|N|
C4703449|Cardiac arrest that would have led to rapid and unexpected death had an intervention not taken place to prevent it.|HPO|N|
C4703450|Any structural anomaly located between the pleura and the chest wall.|HPO|N|
C4703451|So-called honeycombs (variably sized cysts in a background of densely scarred tissue) located in the subpleural space.|HPO|N|
C4703452|Abnormal origin of the right subclavian artery from the descending aorta. The right subclavian artery normally arises from the brachiocephalic trunk, which divides into the right common carotid artery and right subclavian artery.|HPO|N|
C4703453|The left common carotid artery normally originates from the aortic arch. This term refers to an origin of this artery from the main pulmonary artery.|HPO|N|
C4703454|Absence of the normal opening of the coronary ostium from which the right main coronary artery originates.|HPO|N|
C4703455|The left anterior descending artery (LAD) branches off from the pulmonary artery.|HPO|N|
C4703456|The left main coronary artery (LMCA) is absent and the left anterior descending (LAD) and left circumflex (LCX) arteries arise from separate but adjacent ostia in the left sinus of Valsava.|HPO|N|
C4703457|Any structural anomaly of the radial artery.|HPO|N|
C4703458|A concentric abnormal localized widening (dilatation) of the ascending tubular aorta that involves the full circumference of the vessel wall.|HPO|N|
C4703459|A concentric abnormal localized widening (dilatation) of the abdominal aorta that involves the full circumference of the vessel wall|HPO|N|
C4703460|A concentric abnormal localized widening (dilatation) of the aortic arch that involves the full circumference of the vessel wall.|HPO|N|
C4703461|An eccentric abnormal localized widening (dilatation) of the aortic arch that involves only a portion of the circumference of the vessel wall.|HPO|N|
C4703462|Any functional defect of the mitral or tricuspid valve.|HPO|N|
C4703463|Any functional defect of the tricuspid valve.|HPO|N|
C4703465|Any functional abnormality of a cardiac valve.|HPO|N|
C4703466|Any functional anomaly of the pumonary valve.|HPO|N|
C4703468|Any anomaly of the second heart sound (S2), which is produced by aortic (A2) and pulmonic (P2) valve closure. The A2-P2 interval normally increases with inspiration and narrows with expiration.|HPO|N|
C4703469|A type of atrial flutter associated with rounded or bimodal positive deflections in inferior leads II, III and aVF, and a very characteristic bimodal negative wave in the shape of a W is seen in lead V1.|HPO|N|
C4703470|A type of atrioventricular reentrant tachycardia (AVRT) where the atrioventricular node is used for anterograde conduction and the accessory pathway for retrograde conduction.|HPO|N|
C4703471|A type of atrioventricular reentrant tachycardia (AVRT) where the accessory pathway is used for anterograde conduction and the atrioventricular node for retrograde conduction.|HPO|N|
C4703472|A ventricular tachycardia (VT) characterized by right bundle branch block (RBBB) and left axis deviation (LAD) on electrocardiogram (ECG).|HPO|N|
C4703473|A lesion associated with atherosclerosis, a multifactorial and multipart progressive disease manifested by the focal development within the arterial wall of lesions, that ranges from teh development of a fatty streak, plaque progression, and plaque disruption. Atherosclerotic lesions demonstrate consistent morphological characteristics, which indicate that each type may stabilize temporarily or permanently and that progression to the next type may require an additional stimulus.|HPO|N|
C4703474|Type I lesions represent the very initial changes and are recognized as an increase in the number of intimal macrophages and the appearance of macrophages filled with lipid droplets (foam cells).|HPO|N|
C4703475|Type II atherosclerotic lesions include the fatty streak lesion, the first grossly visible lesion, and are characterized by layers of macrophage foam cells and lipid droplets within intimal smooth muscle cells and minimal coarse-grained particles and heterogeneous droplets of extracellular lipid.|HPO|N|
C4703476|Type III (intermediate) atherosclerotic lesions are the morphological and chemical bridge between type II and advanced lesions. Type III lesions appear in some adaptive intimal thickenings (progression-prone locations) in young adults and are characterized by pools of extracellular lipid in addition to all the components of type II lesions.|HPO|N|
C4703477|Type V lesions are defined as lesions in which prominent new fibrous connective tissue has formed. When the new tissue is part of a lesion with a lipid core (type IV), this type of morphology may be referred to as fibroatheroma or type Va lesion. A type V lesion in which the lipid core and other parts of the lesion are calcified may be referred to as type Vb. A type V lesion in which a lipid core is absent and lipid in general is minimal may be referred to as type Vc. With these lesions, arteries are variously narrowed, generally more than with type IV. Importantly, as with type IV lesions, type V lesions may develop fissures, hematoma, and/or thrombus (type VI lesion), and for this reason too they are clinically relevant.|HPO|N|
C4703478|Type VI atherosclerotic lesions generally have the underlying morphology of type IV or V lesions, surface disruptions, hematoma, and thrombosis may be (although less often) superimposed on any other type of lesion and even on intima without an apparent lesion. Complicating features may arise because of individual differences in risk factors and tissue reactions. These may include differences in composition of the blood, the relative quantities and distributions in the components of the underlying lesion or intima, as well as modifications of shear and tensile forces to which the lesion or intima is exposed. Clinical imaging of lesions may be expected to contribute greatly to the understanding of type VI lesions and the associated clinical syndromes.|HPO|N|
C4703479|An abnormally elevated amount of alpha1-antitrypsin in the feces.|HPO|N|
C4703481|An unusually severe infection by cytomegalovirus.|HPO|N|
C4703482|An unusually severe Epstein Barr virus (EBV) infection.|HPO|N|
C4703483|An unusually severe adenovirus infection.|HPO|N|
C4703484|An unusually severe infection by a parainfluenza virus.|HPO|N|
C4703485|A viral infection that fails to be contained by the immune sytem and spreads throughout the body.|HPO|N|
C4703486|A dissemination viral infection caused by a live attenuated vaccine virus.|HPO|N|
C4703487|Failure to contain infection by a protozoan of the genus Cryptosporidium, leading to spread to many parts of the body.|HPO|N|
C4703488|A parasitic infection whereby the parasite invades (migrates through) tissues of the infected host.|HPO|N|
C4703489|The presence of inflammatory cells in the aqueous humor of the anterior chamber of the eye.|HPO|N|
C4703490|The presence of erythrocyte in the aqueous humor of the anterior chamber of the eye.|HPO|N|
C4703491|Any structural anomaly of the ear.|HPO|N|
C4703492|Any functional anomaly of the ear.|HPO|N|
C4703493|A tendency to hold the chin depressed (lowered) to compensate for a limitation of eye movement.|HPO|N|
C4703494|A tendency to turn the face to the right to compensate for a limitation of eye movement.|HPO|N|
C4703495|A tendency to turn the face to the left to compensate for a limitation of eye movement.|HPO|N|
C4703496|A tendency to tilt the head towards the right shoulder to compensate for a limitation of eye movement.|HPO|N|
C4703497|A tendency to tilt the head towards the left shoulder to compensate for a limitation of eye movement.|HPO|N|
C4703498|An abdominal aortic aneurysm that is not symmetric around its axis (not axisymmetric).|HPO|N|
C4703499|A form of divergent strabismus (exotropia) in which the eye turns outward at all distances and at all times.|HPO|N|
C4703500|A type of exotropia (divergent strabismus) in which binocular single vision alternates with large angle exotropia in rhythmic cycle.|HPO|N|
C4703501|Exotropia (intermittent or constant) on distance fixation with binocular single vision on near fixation under all testing conditions. The accommodative convergence/accommodation (AC:A) ratio is within normal limits.|HPO|N|
C4703502|Exotropia (intermittent or constant) worse for distance fixation in which the near angle of deviation increases (or near exophoria becomes exotropia) with|HPO|N|
C4703503|A form of hypermetropia with not more than +2.00 diopters.|HPO|N|
C4703504|A form of hypermetropia with more than +2.00 diopters but not more than +5.00 diopters.|HPO|N|
C4703505|Increased lacrimation owing to overproduction of tears.|HPO|N|
C4703506|A form of watery eye associated with overproduction of tears due to an increased parasympathetic drive to the secretory component of the lacrimal system (lacrimal gland); this could be due to pro-secretory drug use (e.g. pilocarpine) or autonomic disturbance.|HPO|N|
C4703507|A form of watery eye associated with overproduction of tears due to reflex tearing in response to a local irritant (e.g. trichiasis or foreign body), chronic ocular surface disease (e.g. blepharitis) or systemic disease (e.g. thyroid eye disease).|HPO|N|
C4703508|A form of watery eye associated with abnormal lid tone and/or lid position. The former is due to lid laxity (common involutional change in the elderly) or a weak orbicularis muscle (e.g. due to VII cranial nerve palsy). The latter is typically associated with ectropion causing punctal eversion.|HPO|N|
C4703509|A functional anomaly of the inferior or superior oblique muscle.|HPO|N|
C4703510|A functional anomaly of the medial rectus muscle or lateral rectus muscle.|HPO|N|
C4703511|Reduced ocular movement by the inferior oblique muscle which improves on testing ductions, typically associated with neurogenic palsy.|HPO|N|
C4703512|Reduced movement by the inferior rectus muscle which improves on testing ductions, typically associated with neurogenic palsy.|HPO|N|
C4703513|Excessive action of the inferior rectus muscle caused by increased innervation typically as a consequence of palsy or limitation to the ipsilateral antagonist or contralateral synergist.|HPO|N|
C4703514|Decreased strength of the superior rectus muscle.|HPO|N|
C4703515|Excessive action of the superior rectus muscle caused by increased innervation typically as a consequence of palsy or limitation to the ipsilateral antagonist or contralateral synergist.|HPO|N|
C4703516|Mechanical limitation of the range of movement of the superior rectus muscle.|HPO|N|
C4703517|A functional anomaly of the superior or inferior rectus muscle.|HPO|N|
C4703518|A functional anomaly of the lateral rectus muscle.|HPO|N|
C4703519|Decreased strength (ability to move) of the lateral rectus muscle.|HPO|N|
C4703520|Reduced movement of the lateral rectus muscle which improves on testing ductions, typically associated with neurogenic palsy.|HPO|N|
C4703521|Excessive action of the lateral rectus muscle caused by increased innervation typically as a consequence of palsy or limitation to the ipsilateral antagonist or contralateral synergist.|HPO|N|
C4703522|Decreased strength of the medial rectus muscle.|HPO|N|
C4703523|Excessive action of the medial rectus muscle caused by increased innervation typically as a consequence of palsy or limitation to the ipsilateral antagonist or contralateral synergist.|HPO|N|
C4703524|A functional anomaly of a vertical or horizontal rectus muscle.|HPO|N|
C4703525|Reduced movement of the medial rectus muscle which improves on testing ductions, typically associated with neurogenic palsy.|HPO|N|
C4703526|Mechanical limitation of the range of movement of the lateral rectus muscle.|HPO|N|
C4703527|A form of convergent strabismus (esotropia) in which the deviation is present under all conditions (ie at all distances and at all times).|HPO|N|
C4703528|A form of esotropia in which the angle of deviation is not affected by accommodative effort.|HPO|N|
C4703529|Constant esotropia occurring before 6 months of age. It is typically associated with a large angle of deviation, alternating fixation (therefore low risk of amblyopia) and poor potential for binocular single vision. Other features that might be present in individuals with infantile (constant) esotropia include latent nystagmus or manifest latent nystagmus, dissociated vertical divergence, cyclotropia, abnormal head posture, limited abduction.|HPO|N|
C4703530|Esotropia in which normal binocular single vision is present for all distances when the hypermetropic refractive error is corrected. Esotropia is present for near and distance on accommodation without correction.|HPO|N|
C4703531|A form of constant esotropia in which the angle of deviation is partially affected by accommodative effort. Typically there is esotropia at near and distance with hypermetropic correction and the angle of deviation increases without glasses.|HPO|N|
C4703532|Fixation of an object in the area adjacent to the fovea.|HPO|N|
C4703533|Fixation of an object in a peripheral area of the retina.|HPO|N|
C4703534|Any structural anomaly of the posterior circulating artery (PCOM).|HPO|N|
C4703535|A funnel-shaped symmetrical enlargement of the origin of the posterior communicating artery at its junction with the internal carotid artery.|HPO|N|
C4703536|A type of ascites in which there are large numbers of eosinophils in the ascitis fluid.|HPO|N|
C4703537|A type of microtropia with no manifest movement on cover test, the eccentric fixation point coinciding with the angle of ARC.|HPO|N|
C4703538|A type of microtropia in which the manifest movement is demonstrated on the cover-uncover test.|HPO|N|
C4703539|Any structural anomaly of the portion of the aorta that arises from the base of the left ventricle and extends upward to the aortic arch and from which the coronary arteries arise.|HPO|N|
C4703540|An abnormality in voluntary or involuntary eyelid movements or their control.|HPO|N|
C4703541|An increased concentration of leptin in the blood.|HPO|N|
C4703542|A decrease below the normal concentration of glycerol in the blood.|HPO|N|
C4703543|Any deviation from the normal concentration of glycerol in the blood.|HPO|N|
C4703544|Increased circulating level of apolipoprotein B, which is the main apolipoprotein of chylomicrons and low density lipoproteins. It occurs in plasma as two main isoforms, apoB-48 and apoB-100.|HPO|N|
C4703545|Concentration of apolipoprotein A-I below the lower limit of normal. Apolipoprotein A-I is the major protein component of high density lipoprotein (HDL) in plasma. Defects in this gene are associated with HDL deficiencies, including Tangier disease.|HPO|N|
C4703546|An increased concentration in blood of apolipoprotein A-II, a major component of HDL particles, associated with triglyceride and glucose metabolism.|HPO|N|
C4703548|Shortening of the fourth and fifth metacarpals when the fist is clenched.|HPO|N|
C4703551|A functional anomaly of the mouth (which is also known as the oral cavity).|HPO|N|
C4703552|Any structural anomaly of the mouth, which is also known as the oral cavity.|HPO|N|
C4703553|A deviation from normal of the waist to hip ratio, defined as the waist measurement divided by hip measurement.|HPO|N|
C4703554|Increased waist-to-hip ratio (WHR) is a measurement above the average for the dimensionless ratio of the circumference of the waist to that of the hips. WHR is calculated as waist measurement divided by hip measurement.|HPO|N|
C4703555|Decreased waist-to-hip ratio (WHR) is a measurement below the average for the dimensionless ratio of the circumference of the waist to that of the hips. WHR is calculated as waist measurement divided by hip measurement.|HPO|N|
C4703556|Altered level of the enzyme that catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate via transfer of the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate.|HPO|N|
C4703557|Abnormally increased level of the enzyme that catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate via transfer of the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate.|HPO|N|
C4703558|Abnormally decreased level of the enzyme that catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate via transfer of the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate.|HPO|N|
C4703559|Liver mast cell infiltration.|HPO|N|
C4703560|An anomaly of a reflex that is elicited as a motor response to scraping of the skin. They are generally graded as present or absent. They differ from tendon reflexes in that the sensory signal must ascend the spinal cord to reach the brain and then descend the spinal cord to reach the motor neurons.|HPO|N|
C4703561|A reduced concentration of zinc in the blood.|HPO|N|
C4703562|Overshoot of downward saccadic eye movements.|HPO|N|
C4703563|Saccadic undershoot of upward saccadic eye movements, i.e., an upward saccadic eye movement that has less than the magnitude that would be required to gain fixation of the object.|HPO|N|
C4703564|Small ectopic arteries or arterial branches that connect the aorta, aortic branches and/or subclavian artery regions directly to the lung parenchyma, usually seen in conjunction with pulmonary atresia, ventricular septal defect (VSD) and/or closed ductus arteriosus.|HPO|N|
C4703565|An abnormal level of catalysis of the reaction|HPO|N|
C4703566|Increased level of catalysis of the reaction|HPO|N|
C4703567|Decreased level of catalysis of the reaction|HPO|N|
C4703568|Presence of a chemical substance found within an individual that is not naturally produced or expected to be present in human tissues or bodily fluids.|HPO|N|
C4703569|The presence of a xenobiotic in urine.|HPO|N|
C4703570|Detection of methadone or its metabolite 2-ethylidene-1,5-dimethyl-3,3- diphenylpyrrolidine (EDDP) in urine.|HPO|N|
C4703571|Any deviation from the normal sexual drive or desire for sexual activity.|HPO|N|
C4703572|Reduced ability to walk (ambulate) in a backwards direction.|HPO|N|
C4703573|An abnormality of gait that can be observed in individuals with dystonic posture in which the individual walks with an extended trunk and flexed arms, while strutting on the toes without the heels touching the floor.|HPO|N|
C4703574|A reversal of sleeping habits, with a tendency to sleep during the day and be awake at night.|HPO|N|
C4703575|A type of heterotaxy where some paired structures on opposite sides of the left-right axis of the body are symmetrical mirror images of each other, and have the morphology of the normal left-sided structures.|HPO|N|
C4703576|An abnormal gait characterized by toe walking, stiff legs, and skipping. The gait pattern has some resemblance to cock-walk gait, but affected individuals are able to improve their dystonic gait by walking backward.|HPO|N|
C4703577|Reduced or inadequate esophageal peristalsis, with resultant slow passage of contents through the esophagus.|HPO|N|
C4703578|Longitudinal grooves in the surface of the esophagus arranged in a longitudinal fashion (from top to bottom of the esophagus).|HPO|N|
C4703579|Any abnormality in the variability of the time interval between successive heartbeats.|HPO|N|
C4703580|Reduced variation of beat-to-beat intervals of the heart that occurs in conjunction with the respiratory cycle.|HPO|N|
C4703581|Increased variation of beat-to-beat intervals of the heart that occurs in conjunction with the respiratory cycle.|HPO|N|
C4703582|Any functional anomaly of the liver.|HPO|N|
C4703583|Increased passive stiffness or tightness of the neck musculature.|HPO|N|
C4703584|Difficulty reaching visually guided goals in peripheral vision, with the deficit, leaves voluntary eye movements largely unaffected.|HPO|N|
C4703585|Any functional anomaly of Langerhans cells, which are dendritic cells in the epidermis and some other locations. Langerhans cells play roles in immune surveillance and homeostasis.|HPO|N|
C4703586|Birbeck granules (BG) are cytoplasmic organelles that are only found in Langerhans cells (LC). The function of BG is still not completely understood, although most studies point toward an active role in receptor-mediated endocytosis and participation in the antigen-processing/presenting function of LC. This feature refers to the absence of BG in LC, a feature that can be documented by means of electron microscopy.|HPO|N|
C4703587|A tendency towards rising very early in the morning and going to bed early in the evening.|HPO|N|
C4703588|A tendency towards waking up very late in the morning and staying up late at night.|HPO|N|
C4703590|Any deviation from the normal concentration of hepcidin in the blood circulation.|HPO|N|
C4703591|Concentration of hepcidin in the blood circulation below the lower limit of normal.|HPO|N|
C4703592|Concentration of hepcidin in the blood circulation above the upper limit of normal.|HPO|N|
C4703593|Any functional abnormality of the eyelid.|HPO|N|
C4703594|A form of watery eye associated with obstruction of the nasolacrimal system. This may arise at the level of the punctum, the canaliculi, the sac or the nasolacrimal duct.|HPO|N|
C4703595|An elevated concentration of proinsulin (the prohormone precursor to insulin) to mature insulin in the circulation.|HPO|N|
C4703596|A deviation from normal concentration of glucose content in the cerebrospinal fluid.|HPO|N|
C4703598|Any deviation from the normal concentration of low-density lipoprotein cholesterol in the blood circulation.|HPO|N|
C4703599|Any deviation from the normal circulating concentration of chylomicrons.|HPO|N|
C4703600|Any deviation from the normal concentration of high-density lipoprotein cholesterol (HDL) in the blood.|HPO|N|
C4703601|Any deviation from the normal concentration of very-low-density lipoprotein cholesterol in the blood.|HPO|N|
C4703602|Any deviation from the activity of coagulation factor V.|HPO|N|
C4703605|Any deviation from the normal circulating concentration of selenium.|HPO|N|
C4703606|Any deviation from the normal total hemolytic complement activity in the circulation.|HPO|N|
C4703607|An abnormally elevated total hemolytic complement activity in the circulation.|HPO|N|
C4703609|The presence of M2 anti-mitochondrial antibody (immunoglobulins) in the serum.|HPO|N|
C4703610|An abnormal area of increased brightness (hyperintensity) that is limited to one particular area.|HPO|N|
C4703611|An abnormal area of increased brightness (hyperintensity) that occurs in several distinct areas.|HPO|N|
C4703612|Areas of brighter than expected MRI signal in the white matter of the brain whereby individual patches run together.|HPO|N|
C4703616|A decrease in the level of 1,5 anhydroglucitol in the serum. 1,5-Anhydrosorbitol is a validated marker of short-term glycemic control. This substance is derived mainly from food, is well absorbed in the intestine, and is distributed to all organs and tissues.|HPO|N|
C4703617|The concentration of 3-hydroxy-3-methylglutaric acid in the urine, normalized for urine concentration, is above the upper limit of normal.|HPO|N|
C4703618|An increase in the level of allantoin in the serum.|HPO|N|
C4703619|An increase in the level of Gamma-aminobutyric acid (GABA) in the blood circulation.|HPO|N|
C4703620|A decrease in the level of GABA in the serum.|HPO|N|
C4703621|A decrease in the level of erythritol in the urine.|HPO|N|
C4703622|Concentration of erythritol in the cerebrospinal fluid below the lower limit of normal.|HPO|N|
C4703623|An increase in the level of D-threitol in the plasma.|HPO|N|
C4703624|The concentration of D-threitol in the cerebrospinal fluid is above the upper limit of normal.|HPO|N|
C4703625|An increase in the level of D-threitol in the urine.|HPO|N|
C4703626|A decrease in the level of D-mannose in the urine.|HPO|N|
C4703627|An increase in the level of galactitol in the plasma.|HPO|N|
C4703628|An increase in the level of galactitol in the urine.|HPO|N|
C4703629|An increase in the level of galactonate in the red blood cells.|HPO|N|
C4703630|An increase in the level of galactitol in the red blood cells.|HPO|N|
C4703631|An increase in the level of hippuric acid in the blood.|HPO|N|
C4703632|An increase in the level of hippuric acid in the urine.|HPO|N|
C4703633|An increase in the level of L-fucose in the urine.|HPO|N|
C4703635|An increase in the level of propylene glycol in the blood.|HPO|N|
C4703636|An increase in the level of ribitol in the urine. Ribotol is a crystalline pentose alcohol (C5H12O5) and is a metabolic end product formed by the reduction of ribose.|HPO|N|
C4703637|The concentration of ribitol in the cerebrospinal fluid is above the upper limit of normal.|HPO|N|
C4703638|An increase in the level of ribose in the urine.|HPO|N|
C4703639|The concentration of ribose in the cerebrospinal fluid is above the upper limit of normal.|HPO|N|
C4703640|An increase in the level of xylitol in the urine.|HPO|N|
C4703641|The concentration of xylitol in the cerebrospinal fluid is above the upper limit of normal.|HPO|N|
C4703642|An increase in the level of L-pyroglutamic acid in the urine.|HPO|N|
C4703643|An abnormality in the biotinidase level, an enzyme that releases biotin from biocytin, the product of biotin-dependent carboxylases degradation.|HPO|N|
C4703644|Concentration of biotinidase in the blood circulation below the lower limit of normal. Biotidinase is an enzyme that releases biotin from biocytin, the product of biotin-dependent carboxylases degradation.|HPO|N|
C4703645|Concentration of biotinidase in the blood circulation above the upper limit of normal. Biotidinase is an enzyme that releases biotin from biocytin, the product of biotin-dependent carboxylases degradation.|HPO|N|
C4703646|Infiltration of numerous eosinophils (usually greater than 15 per high power field) into the squamous epithelium of the esophagus, and layering of eosinophils on the surface layer of the esophagus.|HPO|N|
C4703647|The formation of small localized collection of eosinophiles (an eosinophilic microabscess) in the esophagus. Usually clusters of greater than or equal to 4 eosinophils are seen, that appear as exudates or white spots or white plaques.|HPO|N|
C4703648|The concentration of methylsuccinic acid in the urine, normalized for urine concentration, is above the upper limit of normal.|HPO|N|
C4703649|An increase in the level of myristic acid in the serum.|HPO|N|
C4703650|An increase in the level of N-acetylneuraminic acid in the urine.|HPO|N|
C4703651|An increase in the level of N-acetylneuraminic acid in cultured fibroblasts.|HPO|N|
C4703653|A defect in the of the process of interstrand cross-link repair|HPO|N|
C4703654|Any abnormality of the chest muscles.|HPO|N|
C4703656|Any abnormality of the back muscles.|HPO|N|
C4703657|Any abnormality of the shoulder muscles.|HPO|N|
C4703658|Increased concentration of cotinine in urine.|HPO|N|
C4703659|The presence of a xenobiotic in blood.|HPO|N|
C4703660|An increased concentration of tropnin I in the blood, which is a cardiac regulatory protein that controls the calcium mediated interaction between actin and myosin. Raised cardiac troponin concentrations are now accepted as the standard biochemical marker for the diagnosis of myocardial infarction.|HPO|N|
C4703661|An increased concentration of tropnin T in the blood, which is a cardiac regulatory protein that controls the calcium mediated interaction between actin and myosin. Raised cardiac troponin concentrations are now accepted as the standard biochemical marker for the diagnosis of myocardial infarction.|HPO|N|
C4703662|An anomaly in the level of glucose-6-phosphate dehydrogenase.|HPO|N|
C4703663|An anomaly in the level of glucose-6-phosphate dehydrogenase in the blood.|HPO|N|
C4703664|An increase in the level of glucose-6-phosphate dehydrogenase in the blood.|HPO|N|
C4703665|A decrease in the level of glucose-6-phosphate dehydrogenase in the blood.|HPO|N|
C4703666|An anomaly in the level of glucose-6-phosphate dehydrogenase in a dried blood spot.|HPO|N|
C4703667|An increase in the level of glucose-6-phosphate dehydrogenase in a dried blood spot.|HPO|N|
C4703668|A decrease in the level of glucose-6-phosphate dehydrogenase in a dried blood spot.|HPO|N|
C4703669|An anomaly in the level of glucose-6-phosphate dehydrogenase in leukocytes.|HPO|N|
C4703670|An anomaly in the level of glucose-6-phosphate dehydrogenase in red blood cells.|HPO|N|
C4703671|An anomaly in the level of glucose-6-phosphate dehydrogenase in tissue.|HPO|N|
C4703672|An increase in the level of glucose-6-phosphate dehydrogenase in tissue.|HPO|N|
C4703673|A decrease in the level of glucose-6-phosphate dehydrogenase in tissue.|HPO|N|
C4703674|A decrease in the level of glucose-6-phosphate dehydrogenase in red blood cells.|HPO|N|
C4703675|An increase in the level of glucose-6-phosphate dehydrogenase in red blood cells.|HPO|N|
C4703676|A decrease in the level of glucose-6-phosphate dehydrogenase in leukocytes.|HPO|N|
C4703677|An increase in the level of glucose-6-phosphate dehydrogenase in leukocytes.|HPO|N|
C4703679|An abnormality in uridine diphosphate glucose-4-epimerase level in plasma. Uridine diphosphate glucose-4-epimerase catalyzes the reaction|HPO|N|
C4703680|An increase in uridine diphosphate glucose-4-epimerase level in plasma. Uridine diphosphate glucose-4-epimerase catalyzes the reaction|HPO|N|
C4703681|A decrease in uridine diphosphate glucose-4-epimerase level in plasma. Uridine diphosphate glucose-4-epimerase catalyzes the reaction|HPO|N|
C4703682|An abnormality in uridine diphosphate glucose-4-epimerase level in red blood cells. Uridine diphosphate glucose-4-epimerase catalyzes the reaction|HPO|N|
C4703683|An increase in uridine diphosphate glucose-4-epimerase level in red blood cells. Uridine diphosphate glucose-4-epimerase catalyzes the reaction|HPO|N|
C4703684|A decrease in uridine diphosphate glucose-4-epimerase level in red blood cells. Uridine diphosphate glucose-4-epimerase catalyzes the reaction|HPO|N|
C4703685|Any abnormality in the proportion natural killer subsets relative to the total number of natural killer cells.|HPO|N|
C4703686|Blockage of the nasolacrimal sac.|HPO|N|
C4703687|A mass of granulation tissue in response to chronic dacryocystitis as polypoid formations or they follow accidental injury, from probing and as a reaction to retained foreign bodies in the sac.|HPO|N|
C4703688|Benign tumor of the nasolacrimal sac.|HPO|N|
C4703689|The malignant epithelial neoplasm with papillary growths in the nasolacrimal sac.|HPO|N|
C4703690|An abnormality of the conjuctiva and ocular surface caused by conjunctival inflammation and associated with scarring.|HPO|N|
C4703691|A unilateral or bilateral eyelid retraction due to midbrain lesions.|HPO|N|
C4703692|A type of lymphoma that involves the nasolacrimal sac.|HPO|N|
C4703693|A very common condition in which the extreme end of the nasolacrimal duct underneath the inferior turbinate fails to complete its canalization in the newborn period.|HPO|N|
C4703694|A detachment that involves the peripheral retina that does not extend into the macula.|HPO|N|
C4703695|A detachment that involves the peripheral retina that involves the macula itself. The detachment usually starts in the temporal periphery although can also involve the nasal retina as well.|HPO|N|
C4703696|An open funnel detachment of the retina with generally traction in all four quadrants.|HPO|N|
C4703697|A closed funnel detachment of the retina with generally traction in all four quadrants.|HPO|N|
C4703698|Retinopathy which extends from the center of the optic disc to twice the distance from the center of the optic disc to the center of the macula.|HPO|N|
C4703699|Retinopathy which extends centrifugally from the edge of zone I to the nasal ora serrata.|HPO|N|
C4703700|Retinopathy which is a residual crescent of retina anterior to zone II.|HPO|N|
C4703701|Venous dilatation and arteriolar tortuosity of the posterior retinal vessels and may later increase in severity to include iris vascular engorgement, poor pupillary dilatation (rigid pupil), and vitreous haze. This definition has been further refined in the later clinical trials in which the diagnosis of plus disease could be made if sufficient vascular dilatation and tortuosity are present in at least 2 quadrants of the eye.|HPO|N|
C4703702|As vascular abnormalities of the posterior pole that are insufficient for the diagnosis of plus disease but that demonstrate more arterial tortuosity and more venous dilatation than normal.|HPO|N|
C4703703|A retinopathy with a 50% likelihood of progressing to retinal detachment. Threshold disease is considered to be present when stage 3 retinopathy of prematurity (ROP) is present in either zone I or zone II, with at least 5 continuous or 8 total clock hours of disease, and the presence of plus disease.|HPO|N|
C4703704|High risk patients who were in Zone 1 (no Plus or stage 3) or Zone 2 with Plus or stage 3 but not both.|HPO|N|
C4703705|The difference between total and manifest myopia.|HPO|N|
C4703706|A conjuctival lesion composed of adipose tissue and dense connective tissue. Such choristomas of dermal elements are normally found at the outer canthus, and have a gelatinous appearance. Classically, there is an indistinct posterior border (with the lesion frequently extending into the orbit) and a well-demarcated anterior border several millimeters posterior to the limbus.|HPO|N|
C4703707|Eccentric fixation in which the angle of eccentricity equals the objective angle of deviation.|HPO|N|
C4703708|Any deviation from the normal ocular alignment.|HPO|N|
C4703710|A type of vertical tropia in which, when one eye is fixing, the other eye is deviated downwards.|HPO|N|
C4703711|A type of vertical phoria in which, in dissociation, the occluded eye deviates downwards.|HPO|N|
C4703712|Having a characteristic appearance of a slate gray area of pigmentation within the disk margins that commonly appears along the inferotemporal or temporal neuroretinal rim areas.|HPO|N|
C4703713|Loss of pigment in the fovea centralis.|HPO|N|
C4703714|A capillary hemangioma surrounding the eyeball but within the orbit.|HPO|N|
C4703715|A mesenchymal tumor that is considered to be the commonest primary orbital malignancy in children. Histologically, it may be differentiated into embryonal, alveolar, and pleomorphic types. It is usually intraconal or within the superior orbit.|HPO|N|
C4703716|Presence of xenobiotic in stool.|HPO|N|
C4703717|Presence of a xenobiotic in meconium.|HPO|N|
C4703718|Presence of xenobiotic in hair.|HPO|N|
C4703719|Presence of a xenobiotic in plasma and/or serum.|HPO|N|
C4703720|Presence of a xenobiotic in gastric fluid.|HPO|N|
C4703721|A compensatory head posture occurs when the head is deviated out of the normal primary straight head position in order to compensate for an ocular problem.|HPO|N|
C4703722|Reduced movement of the superior rectus muscle which improves on testing ductions, typically associated with neurogenic palsy.|HPO|N|
C4703724|Clasp-knife phenomonen refers to increased muscle tone while bending or stretching a limb, whereby there is a sudden relaxation (decrease in resistance) as the muscle continues to be streched. This phenomenon has been likened to opening a clasp knife.|HPO|N|
C4703725|Any structural anomaly of a cell of the monocyte, granulocyte, mast cell, megakaryocyte, or erythroid lineage.|HPO|N|
C4703726|The right common carotid artery normally originates from the brachiocephalic artery. This term refers to an origin of this artery directly from the aorta.|HPO|N|
C4704742|Fibrous dysplasia affecting the craniofacial bones.|NCI|N|
C4704753|Symptom of underactive detrusor muscle of the URINARY BLADDER that contracts with abnormally reduced strength or duration resulting in an incomplete and/or prolonged bladder emptying.|MSH|N|
C4704874|Cancer of the human MAMMARY GLAND.|MSH|N|
C4704910|A pathologic response to infection in a mother or pregnant woman.|NCI|N|
C4706257|A rare chromosomal anomaly syndrome caused by partial duplication of the long arm of chromosome 20. The disorder has characteristics of psychomotor and developmental delay, moderate intellectual disability, metopic ridging/trigonocephaly, short hands and/or feet and distinctive facial features (epicanthus, hypoplastic supraorbital ridges, horizontal/downslanting palpebral fissures, small nose with depressed nasal bridge and anteverted nostrils, prominent cheeks, retrognathia and small, thick ears). Growth delay and cryptorchidism are often associated features.|SNOMEDCT_US|N|
C4706258|A rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 2, with a highly variable phenotype typically characterised by severe intellectual disability, moderate to severe developmental delay (particularly speech), feeding difficulties, failure to thrive, hypotonia, thin, sparse hair, various dental abnormalities and cleft/high-arched palate. Typical dysmorphic features include high, prominent forehead, down-slanting palpebral fissures and prominent nasal bridge with beaked nose. Various behavioural problems (e.g. hyperactivity, chaotic/repetitive behaviour, touch avoidance) are also associated.|SNOMEDCT_US|N|
C4706259|A rare genetic multiple congenital anomaly syndrome with characteristics of atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly placed anus, rectovaginal fistula) defects.|SNOMEDCT_US|N|
C4706283|Combined oxidative phosphorylation deficiency-13 (COXPD13) is an autosomal recessive multisystem disorder resulting from mitochondrial dysfunction. Affected individuals develop severe neurologic impairment in the first months of life, including hypotonia, abnormal dystonic movements, hearing loss, poor feeding, global developmental delay, and abnormal eye movements. Brain imaging shows signal abnormalities in putamen, basal ganglia, caudate nuclei, or corpus callosum, as well as delayed myelination. Analysis of patient tissues shows multiple defects in enzymatic activities of the mitochondrial respiratory chain, although some tissues may show normal values since tissue expression of the mitochondrial defect and metabolic needs of specific tissues are variable (summary by Vedrenne et al., 2012).
For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060).|OMIM|N|
C4706298|A rare genetic bone disorder with the presence of two non-fused talar bone fragments, with the posterior fragment located at the level of the posterior talar process. Patients may present with foot and/or ankle pain (exercise-induced or not), repetitive ankle sprains, chronic ankle ligamentous laxity, restricted ankle motion (i.e. plantar flexion, eversion, and inversion), and mild swelling.|SNOMEDCT_US|N|
C4706299|A rare benign cutaneous neoplasm containing keratinised epithelium and dermal derivatives, such as hair follicles, sweat and sebaceous glands, smooth muscle or fibroadipose tissue which usually manifests as a slow-growing, painless mass in the submandibular or sublingual space. Depending on the location, and especially after sudden enlargement, it can cause dyspnoea, dysphagia or dysphonia.|SNOMEDCT_US|N|
C4706300|A rare genetic bone development disorder with characteristics of proportionate short stature, nail dysplasia (enlarged, convex, hypertrophic nails), hypodontia and night blindness. Osteopenia, a tendency to present fractures, talipes varus with abnormal gait, ear infections, and watering eyes due to narrow tear ducts are frequently associated. Radiologically presents with delayed bone age on wrist X-rays, platyspondyly, and broad metaphyses of humeri with dense and thickened growth plates.|SNOMEDCT_US|N|
C4706301|A rare demyelinating hereditary motor and sensory neuropathy characterised by early-onset, slowly progressive, distal muscular weakness and atrophy with no sensory impairment, congenital sensorineural deafness and mild intellectual disability (with absence of normal speech development). The absence of large myelinated fibres on sural nerve biopsy is equally characteristic of the disease.|SNOMEDCT_US|N|
C4706313|A rare mitochondrial disease due to a defect in mitochondrial protein synthesis with onset in infancy or early childhood of muscular hypotonia, gait ataxia, mild bilateral pyramidal tract signs, developmental delay (affecting mostly speech and coordination) and subsequent intellectual disability. Short stature, obesity, microcephaly, strabismus, nystagmus, reduced visual acuity, lactic acidosis, and a brain neuropathology consistent with Leigh syndrome are also reported. Caused by homozygous or compound heterozygous mutation in the MTFMT gene on chromosome 15q22.|SNOMEDCT_US|N|
C4706315|A rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by initially normal growth and development followed by the infantile-onset of failure to thrive, psychomotor delay, poor feeding, dyspnea, severe hypertrophic cardiomyopathy and hepatomegaly. Laboratory studies report increased plasma lactate and alanine, abnormal liver enzymes and decreased activity of mitochondrial respiratory chain complexes I, III, IV, and V. Caused by compound heterozygous mutation in the MRPL3 gene on chromosome 3q22.|SNOMEDCT_US|N|
C4706316|Combined oxidative phosphorylation deficiency-21 (COXPD21) is an autosomal recessive disorder characterized either by onset within the first months of life of severe hypotonia, failure to thrive, epilepsy and early death or by onset after 6 months of life with a milder course and longer survival (summary by Zheng et al., 2022).
For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060).|OMIM|N|
C4706317|A disorder of lipid absorption and transport characterised by steatorrhoea with foul-smelling stools from birth, diminished serum carotene and vitamin E and a combined deficiency of the pancreatic enzymes lipase and colipase. Patients are otherwise healthy and develop normally with no apparent pancreatic disease. There have been no further descriptions in the literature since 1990.|SNOMEDCT_US|N|
C4706319|A rare maxillofacial disorder with characteristics of significant reduction in mouth opening in the absence of acquired factors (e.g. trauma, infection) contributing to the ankylosis. It is associated with variable degrees of facial dysmorphism (i.e. lateral deviation of the mandible and chin, lower facial asymmetry, retrognathia, micrognathia, dental malocclusion) and patients typically present with feeding and breathing difficulties. Developmental delay, hypotonia, seizures, and additional dysmorphic features (e.g. pectus excavatum, low-set ears, hypoplastic alae nasi) have also been reported.|SNOMEDCT_US|N|
C4706321|A rare benign cutaneous neoplasm containing keratinized epithelium and dermal derivatives, such as hair follicles, sweat and sebaceous glands, smooth muscle or fibroadipose tissue, which usually manifests as a firm, nonpulsatile mass, often with a sinus opening or a hair-bearing punctum, most commonly located in the periorbital and nasal area.|SNOMEDCT_US|N|
C4706361|A rare chromosomal anomaly resulting from the partial duplication of the long arm of chromosome 2. The disorder has characteristics of moderate psychomotor delay, mild intellectual disability, facial dysmorphism (high hairline, prominent forehead, hypertelorism, upslanting palpebral fissures, large, low-set and/or posteriorly rotated ears, depressed/broad nasal bridge, prominent nasal tip, thin upper lip vermillion), clino/camptodactyly and normal or increased body measurements. On occasion genital anomalies (hypospadias, cryptorchidism, shawl scrotum) and short stature may be observed.|SNOMEDCT_US|N|
C4706362|A rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 4. The disorder has a highly variable phenotype with typical characteristics of psychomotor delay, intellectual disability, craniofacial dysmorphism (microcephaly, low-set, prominent ears, downslanting palpebral fissures, hypertelorism, epicanthic folds, broad, prominent nasal bridge, high arched and cleft palate, micro/retrognathia), seizures, tooth and digital anomalies (clinodactyly, polydactyly). Cardiac malformations, renal anomalies, cryptorchidism, hypotonia and hearing impairment have also been reported.|SNOMEDCT_US|N|
C4706363|A rare chromosomal anomaly syndrome resulting from a partial duplication of the long arm of chromosome 5. The disorder has characteristics of short stature, moderate intellectual disability, craniofacial dysmorphism (microcephaly, flat facies, large, low-set dysplastic ears, down-slanted, almond-shaped palpebral fissures, hypertelorism, epicanthal folds, small nose, long philtrum, small mouth with thin upper lip, and micrognathia). Patients also frequently present speech and cognitive delay, cardiac (ventriculomegaly, ventricular septum defect) and skeletal abnormalities (craniosynostosis, radial agenesis, ulnar hypoplasia, brachydactyly) and genital malformations (hypospadias, cryptorchidism).|SNOMEDCT_US|N|
C4706364|A rare chromosomal anomaly syndrome resulting from the partial duplication of the short arm of chromosome 7. The disorder has a highly variable phenotype with typical characteristics of severe to profound psychomotor delay, intellectual disability, dysmorphic features (including dolichocephaly, microbrachycephaly, high and/or broad forehead, hypertelorism, downslanting palpebral fissures, low-set, dysplastic ears, low, broad and prominent nasal bridge, abnormal palate, micro/retrognathia) and hypotonia. Cardiovascular, gastrointestinal, skeletal and urogenital anomalies have commonly been reported.|SNOMEDCT_US|N|
C4706365|A rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 8. The disorder has a highly variable phenotype with typical characteristics of growth and developmental delay, intellectual disability, short stature, craniofacial dysmorphism (microcephaly, prominent forehead, hypertelorism, abnormal palpebral fissures, low-set, large ears, anteverted tip of nose, micro/retrognathia), congenital heart defects, skeletal and limb anomalies. Other reported features include ophthalmologic abnormalities (e.g. megalocornea), cryptorchidism, hypertrichosis, and neurologic manifestations (e.g. hypotonia, hearing loss and seizures).|SNOMEDCT_US|N|
C4706366|A rare genetic developmental defect during embryogenesis with characteristics of severe psychomotor delay, intellectual disability, congenital, symmetrical circumferential skin creases of arms and legs, cleft palate, and facial dysmorphism (including elongated face, high forehead, blepharophimosis, short palpebral fissures, microphthalmia, microcornea, epicanthic folds, telecanthus, microtia, posteriorly angulated ears, broad nasal bridge, microstomia and micrognathia). Additional features reported include short stature, microcephaly, hypotonia, pectus excavatum, severe scoliosis, hypoplastic scrotum and mixed hearing loss.|SNOMEDCT_US|N|
C4706367|A rare mitochondrial disease due to a defect in coenzyme Q10 biosynthesis that manifests with a broad spectrum of signs and symptoms which may include: neonatal lactic acidosis, global developmental delay, tonus disorder, seizures, reduced spontaneous movements, ventricular hypertrophy, bradycardia, renal tubular dysfunction with massive lactic acid excretion in urine, severe biochemical defect of respiratory chain complexes II/III when assayed together and deficiency of coenzyme Q10 in skeletal muscle. Cerebral and cerebellar atrophy can be seen on magnetic resonance imaging and multiple choroid plexus cysts and symmetrical hyperechoic signal alterations in basal ganglia have been observed on ultrasound.|SNOMEDCT_US|N|
C4706386|A subtype of acute myeloid leukaemia with recurrent genetic abnormalities characterised by clonal proliferation of myeloid blasts harbouring mutations of the NPM1 gene in the bone marrow, blood and other tissues. It is associated with multilineage dysplasia, involving the myeloid, monocytic, erythroid, and megakaryocytic cell lineages. Patients usually present with leukocytosis, thrombocytosis and nonspecific symptoms related to ineffective haematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain), with frequent extramedullary involvement typically presenting as gingival hyperplasia and lymphadenopathy.|SNOMEDCT_US|N|
C4706387|A rare neurologic disease with characteristics of rapid onset of seizures, an altered state of consciousness, neurologic decline, and variable degrees of hepatic dysfunction following a respiratory or gastrointestinal infection (e.g. mycoplasma, influenza virus) in a previously healthy child. Brain MRI of patients reveals bilateral, multiple, symmetrical lesions predominantly observed in thalami and brainstem, but also in periventricular white matter and cerebellum in some cases.|SNOMEDCT_US|N|
C4706388|A rare genetic, slowly progressive neurodegenerative disease characterised by delayed psychomotor development beginning in infancy, mild to profound intellectual disability, gait and stance ataxia, pyramidal signs (hyperreflexia, extensor plantar responses), dysarthria, and ocular abnormalities (e.g. nystagmus, oculomotor apraxia, abduction deficits, esotropia, ptosis). Brain imaging reveals progressive, generalised cerebellar atrophy, mild ventriculomegaly and in some, retrocerebellar cysts.|SNOMEDCT_US|N|
C4706389|A rare genetic neuromuscular disease characterised by congenital hypotonia, generalised, slowly progressive muscular weakness, and proximal joint contractures with distal joint hypermobility and hyperlaxity. Scoliosis or rigidity of the spine and delayed motor milestones are also frequently reported. Other manifestations include a long myopathic face and in rare cases, respiratory failure, mild to moderate intellectual deficiency and short stature. Ambulation may be impaired with time.|SNOMEDCT_US|N|
C4706390|A rare genetic, non-dystrophic myopathy with characteristics of fatigable muscle weakness associated with congenital myopathy. Patients present with axial hypotonia, myopathic facies with fatigable ptosis, feeding difficulties, delayed gross motor development and proximal limb weakness with a RYR1-related typical pattern of muscle involvement (i.e. severe involvement of the soleus muscle and sparring of the rectus femoris, sartorius, gracilis and semitendinous muscles). Scoliosis and frequent respiratory tract infections are additional observed features.|SNOMEDCT_US|N|
C4706391|A rare congenital arterial duct anomaly with characteristics of saccular dilatation of the ductus arteriosus. It is often asymptomatic or presents shortly after birth with respiratory distress, stridor, cyanosis and/or weak cry. Complications, such as rupture, thromboembolism, infection, airway erosion and/or compression of the adjacent thoracic structures can develop. Spontaneous resolution has been reported.|SNOMEDCT_US|N|
C4706392|A very rare developmental defect during embryogenesis with characteristics of varying degrees of congenital fusion (ranging from simple mucosal adhesions to extensive bony fusion) of mandible to maxilla that is not associated with any other malformations. Patients present with mouth opening limitation (which could range from severe to minimal restriction) that typically results in feeding, swallowing and/or respiratory difficulties that may lead to failure to thrive, malnutrition and/or temporomandibular joint ankylosis.|SNOMEDCT_US|N|
C4706393|A rare genetic disease caused by lack of lysyl hydroxylase-3 (LH3) activity with characteristics of multiple tissue and organ involvement, including skeletal abnormalities (club foot, progressive scoliosis, osteopenia, pathologic fractures), ocular involvement (flat retinae, myopia, cataracts) and hair, nail and skin anomalies (coarse, abnormally distributed hair, skin blistering, reduced palmar creases, hypoplastic nails). Patients also present intrauterine growth retardation, facial dysmorphism (flat facial profile, low-set ears, shallow orbits, short and upturned nose, downturned corners of mouth) and joint flexion contractures. Growth and developmental delay, bilateral sensorineural deafness, friable diaphragm and later-onset spontaneous vascular ruptures are additional reported features. The disorder is caused by mutation in the PLOD3 gene, which encodes lysyl hydroxylase-3|SNOMEDCT_US|N|
C4706410|A rare lethal congenital myopathy syndrome characterized by decreased fetal movements and polyhydramnios in utero and the presence of akinesia, severe hypotonia with respiratory insufficiency, absent reflexes, joint contractures, skeletal abnormalities with thin ribs and bones, intracranial and retinal hemorrhages and decreased birth weight in the neonate.|SNOMEDCT_US|N|
C4706412|A rare genetic neurodegenerative disease with childhood or adolescent-onset of cerebellar ataxia with dysarthria which slowly progresses and associates pyramidal signs, including lower limb spasticity, brisk reflexes, and Babinski and Hoffman signs. Patients typically present cerebellar ataxia with development of increasing asymmetric spasticity in upper and lower limbs, and variable axonal sensory or sensorimotor neuropathy. Additional heterogeneous features, including pes cavus, scoliosis and abnormalities of the brain (e.g. cerebral atrophy) may also be associated.|SNOMEDCT_US|N|
C4706413|A rare genetic epilepsy syndrome characterized by neonatal or early infantile onset of severe, progressive, typically frequent and prolonged myoclonic seizures that are refractory to treatment, associated with localized and/or generalized paroxysmal dystonia (which later becomes persistent). Other features include severe hypotonia, hemiplegia, psychomotor regression (or lack of psychomotor development) and progressive cerebral and cerebellar atrophy, with affected individuals becoming progressively non-reactive to environmental stimuli.|SNOMEDCT_US|N|
C4706414|A rare syndromic intellectual disability with primary characteristics of moderate to severe intellectual disability, true-to-relative microcephaly and brain abnormalities including a thin corpus callosum, cerebellar hypoplasia, cerebral white matter hypoplasia and multi-focal hyperintensity of cerebral white matter on MRI. Obesity and distinctive craniofacial dysmorphism (including brachycephaly, round face, straight eyebrows, synophrys, hypertelorism, epicanthus, wide and depressed nasal bridge, protruding ears with uplifted lobe, downslanting corners of the mouth) are additional features.|SNOMEDCT_US|N|
C4706415|Autosomal recessive spinocerebellar ataxia-14 (SCAR14) is a neurologic disorder characterized by delayed psychomotor development, severe early-onset gait ataxia, eye movement abnormalities, cerebellar atrophy on brain imaging, and impaired intellectual development (summary by Lise et al., 2012).|OMIM|N|
C4706421|Combined oxidative phosphorylation deficiency-12 (COXPD12) is an autosomal recessive mitochondrial neurologic disorder characterized by onset in infancy of hypotonia and delayed psychomotor development, or early developmental regression, associated with T2-weighted hyperintensities in the deep cerebral white matter, brainstem, and cerebellar white matter. Serum lactate is increased due to a defect in mitochondrial respiration. There are 2 main phenotypic groups: those with a milder disease course and some recovery of skills after age 2 years, and those with a severe disease course resulting in marked disability (summary by Steenweg et al., 2012).
For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060).|OMIM|N|
C4706423|A rare genetic skin pigmentation anomaly disorder with characteristics of progressive, diffuse, partly blotchy, hyperpigmented lesions that are intermixed with multiple cafe au lait spots, hypopigmented maculae and lentigines and are located on the face, neck, trunk and limbs, as well as, frequently, the palms, soles and oral mucosa. Dyspigmentation pattern can range from well isolated cafe au lait/hypopigmented patches on a background of normal-appearing skin to confetti-like or mottled appearance. There is evidence this disease is caused by heterozygous mutation in the KIT ligand gene (KITLG) on chromosome 12q22.|SNOMEDCT_US|N|
C4706448|A complex form of hereditary spastic paraplegia with characteristics of spastic paraplegia, demyelinating peripheral sensorimotor neuropathy, poikiloderma (manifesting with loss of eyebrows and eyelashes in childhood in addition to delicate, smooth, and wasted skin) and distal amyotrophy (presenting after puberty). There have been no further descriptions in the literature since 1992.|SNOMEDCT_US|N|
C4706449|A rare chromosomal anomaly syndrome resulting from the partial deletion of chromosome 16, with characteristics of pre and postnatal growth delay, severe developmental delay, intellectual disability, speech delay, and craniofacial dysmorphism (e.g. microcephaly, hypertelorism, downslanted palpebral fissures, ptosis, telecanthus, low set and dysmorphic ears, broad flat nasal bridge, down-turned mouth corners, high palate, retrognathia). Patients may also present congenital cataract, mild synophrys, hypotonia, and poor social contact. Congenital heart anomalies (e.g. ventricular septal defect, patent ductus arteriosus) have also been reported.|SNOMEDCT_US|N|
C4706450|A rare chromosome Y structural anomaly, with a highly variable phenotype, mostly characterised by short stature, partial to total gonadal failure, sexual infantilism, genital anomalies (e.g. ambiguous genitalia, hypospadias, cryptorchidism), and azoospermia or oligozoospermia. Additional reported features include speech delay, obesity, and acanthosis nigricans. Gender dysphoria and comorbid bipolar disorder have also been observed.|SNOMEDCT_US|N|
C4706451|An extremely rare highly malignant soft tissue sarcoma located in the uterine body and arising from primitive mesenchymal cells displaying variable degrees of skeletal muscle differentiation. It most often presents with abnormal vaginal discharge or dysfunctional uterine bleeding, abdominal pain and lower abdominal mass. Association with DICER1 syndrome has been reported.|SNOMEDCT_US|N|
C4706484|A rare acquired dermal elastic tissue disorder characterized by multiple, 2-3 millimeter sized, non-confluent, asymptomatic, white or pale-colored, non-follicular, firm papular lesions occurring predominantly on the lateral or posterior aspects of the neck. Other, rarely reported sites include inferior axillae, central mid-back and upper sternal region.|SNOMEDCT_US|N|
C4706485|An extremely rare clonal lymphoid proliferation of the ocular surface with an indolent course. Clinically it presents with treatment-resistant conjunctivitis, ptosis, and excessive tear production or as a painless, salmon-pink, fleshy patch, with a smooth or multinodular surface, on the bulbar conjunctiva. Histologically it is usually B-cell Non-Hodgkin lymphoma (most often extranodal marginal zone B-cell lymphoma, followed by follicular and diffuse large B-cell lymphoma), with conjunctival T-cell Non-Hodgkin lymphoma being very rare.|SNOMEDCT_US|N|
C4706502|A rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 13. The syndrome has a highly variable phenotype and typical characteristics of varying degrees of intellectual disability and developmental delay, as well as central nervous system malformations (e.g. holoprosencephaly, anencephaly, ventriculomegaly, Dandy-Walker malformation), ocular abnormalities (e.g. hypertelorism, microphthalmia, strabismus, aniridia, retinal dysplasia) and craniofacial dysmorphism (microcephaly, trigonocephaly, large and malformed ears, broad prominent nasal bridge, micrognathia). Cardiac, genitourinary, gastrointestinal and skeletal manifestations have also been reported.|SNOMEDCT_US|N|
C4706503|Characteristic features of the distal 3p- syndrome include low birth weight, microcephaly, trigonocephaly, hypotonia, psychomotor and growth retardation, ptosis, telecanthus, downslanting palpebral fissures, and micrognathia. Postaxial polydactyly, renal anomalies, cleft palate, congenital heart defects (especially atrioventricular septal defects), preauricular pits, sacral dimple, and gastrointestinal anomalies are variable features. Although intellectual deficits are almost invariably associated with cytogenetically visible 3p deletions, rare patients with a 3p26-p25 deletion and normal intelligence or only mild abnormalities have been described (summary by Shuib et al., 2009).|OMIM|N|
C4706504|A rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 7. The syndrome has a highly variable phenotype with typical characteristics of holoprosencephaly, growth restriction, developmental delay, facial dysmorphism (facial clefts, prominent forehead, hypertelorism, low-set ears, flat and broad nasal bridge, large mouth), abnormal fingers and palm or sole creases, ocular abnormalities, and other congenital malformations (including genital anomalies and caudal deficiency sequence). Cardiopathies have been occasionally reported.|SNOMEDCT_US|N|
C4706505|A rare genetic otorhinolaryngologic disease characterised by respiratory morbidity due to lack of cilia on the respiratory tract epithelial cells. The disease manifests from birth with respiratory distress, neonatal pneumonia, dyspnoea, lobar atelectasis and bronchiectasis. Recurrent infections of the upper and lower respiratory tract, chronic humid coughing, and chronic sinusitis, otitis and rhinitis are typical lifelong presenting conditions.|SNOMEDCT_US|N|
C4706506|A rare neurologic disease characterized by the onset of generalized or focal seizures following immersion of the head in hot water, or with hot water being poured over the head. Primary generalized tonic-clonic seizures have been reported in rare cases.|SNOMEDCT_US|N|
C4706507|A congenital non-syndromic limb malformation with the presence of an accessory phalanx between metacarpal/metatarsal and proximal phalanx, or between any two other phalanges of a digit, excluding the thumb. Hyperphalangy is almost always bilateral and patients present no more than five digits and no other skeletal anomalies.|SNOMEDCT_US|N|
C4706520|A developmental anomaly with characteristics as birth of right-sided aortic arch, craniofacial dysmorphism (microcephaly, asymmetric, facial bones, broad forehead, borderline hypertelorism, nasal septum deviation, large nasal cavity, large, posteriorly rotated ears and microstomia with downturned corners), and intellectual disability. These features were observed in 4 members of one family, involving 2 successive generations, suggesting an autosomal dominant mode of transmission. There have been no further descriptions in the literature since 1968.|SNOMEDCT_US|N|
C4706521|A rare benign congenital malformation of the lymphatic system with a polypoidal, variable-sized, soft tissue mass located in the larynx. Most lesions manifest by the second year of life and depending on the size, patients may present with changes in voice, dysphagia, stridor, airway obstruction and/or respiratory distress. Cystic hygroma of the neck is frequently associated.|SNOMEDCT_US|N|
C4706522|A rare acquired eye disease due to long-term exposure to chloroquine or hydroxychloroquine with characteristics of slowly progressive usually non-reversible, development of bilateral atrophic bull''s-eye maculopathy (progressive loss of central vision acuity, reduced color vision and central scotoma), which in severe cases can spread over the entire fundus, leading to widespread retinal atrophy and visual loss.|SNOMEDCT_US|N|
C4706523|A rare neurologic disease characterized by seizures induced by specific cognitive tasks, such as calculation or solving arithmetic problems, playing thinking games (e.g. chess, cards), thinking, making decisions and abstract reasoning. Idiopathic generalized seizures are mainly involved, but partial epilepsies may, in rare cases, be observed.|SNOMEDCT_US|N|
C4706525|A rare genetic non-syndromic congenital limb malformation with characteristics of unilateral fusion of second to fifth fingers, amalgamation of distal phalanges in a knot-like structure, and second and third-toe fusion. Some individuals present only with webbing between second and third toes without involvement of fingers.|SNOMEDCT_US|N|
C4706527|A rare neurologic disease with characteristics of frequent and spontaneous epileptic seizures (frequently with symmetrical or asymmetrical tonic features) triggered by a normal startle in response to a sudden and unexpected somatosensory (most frequently auditory) stimulus. Falls are common and can be traumatic. In most cases, the disease is associated with spastic hemiplegia, spastic diplegia or spastic tetraplegia and intellectual disability.|SNOMEDCT_US|N|
C4706536|A rare bone development disorder with characteristics of intellectual disability, short stature, turribrachycephaly, facial dysmorphism (severe hypertelorism, hypoplasia of supraorbital ridges, abnormal ears, and micrognathia), bony defects of the occiput, and digital anomalies (including syndactyly, oligodactyly, and/or brachydactyly). Urethral atresia has also been reported. There have been no further descriptions in the literature since 1987.|SNOMEDCT_US|N|
C4706538|A rare mitochondrial disease with marked clinical variability typically and characteristics of encephalomyopathy, kidney disease (nephrotic syndrome), optic atrophy, early-onset deafness, pancytopenia, obesity, and cardiac disease (valvulopathy). Additionally, macrocephaly, intellectual disability, elevated lactate/pyruvate ratio, insulin-dependent diabetes, livedo reticularis, liver dysfunction and seizures have also been associated.|SNOMEDCT_US|N|
C4706540|A rare genetic non-syndromic congenital limb malformation with characteristics of angulation of a digit in the radio-ulnar (coronal) plane, away from the axis of joint flexion-extension, in several members of a single family with no other associated manifestations. Deviation is usually bilateral and commonly involves the fifth finger. Affected digits present trapezoidal or delta-shaped phalanges on imaging.|SNOMEDCT_US|N|
C4706551|A rare genetic endocrine disorder characterized by persistently high prolactin serum levels (not associated with gestation, puerperium, drug intake or pituitary tumor) in multiple affected family members. Clinically it manifests with signs usually observed in hyperprolactinemia, which are: secondary medroxyprogesterone acetate (MPA)-negative amenorrhea and galactorrhea in female patients, and hypogonadism and decreased testosterone level-driven sexual disfunction in male patients. Oligomenorrhea and primary infertility have also been reported in some female patients.|SNOMEDCT_US|N|
C4706552|A rare non-syndromic urogenital tract malformation with the familial occurrence of retrograde flow of urine from the bladder into the ureter and sometimes the kidneys. Patients may be asymptomatic or may present with recurrent, sometimes febrile, urinary tract infections that, in case of acute pyelonephritis, may lead to serious complications (renal scarring, hypertension, renal failure). Spontaneous resolution of the disorder is possible.|SNOMEDCT_US|N|
C4706553|A rare non-syndromic central nervous system malformation disorder with characteristics of severe microcephaly, overlapping sutures, keel-like occipital bone prominence, scalp rugae with normal hair pattern and signs of neurological impairment. Brain imaging may show ventriculomegaly, cortical tissue deficit, and hydranencephaly.|SNOMEDCT_US|N|
C4706555|Hypermethioninemia due to adenosine kinase deficiency is an autosomal recessive inborn error of metabolism characterized by global developmental delay, early-onset seizures, mild dysmorphic features, and characteristic biochemical anomalies, including persistent hypermethioninemia with increased levels of S-adenosylmethionine (AdoMet) and S-adenosylhomocysteine (AdoHcy); homocysteine is typically normal (summary by Bjursell et al., 2011).|OMIM|N|
C4706556|A rare genetic neurodegenerative disorder with characteristics of severe, persistent hypotonia (presenting at birth or in early infancy), severe global developmental delay (with poor or absent speech, difficulty or inability to roll, sit or walk), profound intellectual disability and failure to thrive. Additional manifestations include microcephaly, progressive peripheral spasticity, bilateral strabismus and nystagmus, constipation and variable dysmorphic facial features (including plagiocephaly, broad forehead, small nose, low-set ears, micrognathia and open mouth with tented upper lip).|SNOMEDCT_US|N|
C4706562|A rare neurologic disease with characteristics of unpredictable, transient and spontaneous unresponsiveness lasting from hours to days, with a frequency of three to seven attacks per year, in the absence of readily discernible toxic, metabolic or structural causes.|SNOMEDCT_US|N|
C4706563|Alacrima, achalasia, and impaired intellectual development syndrome (AAMR) is an autosomal recessive disorder characterized by onset of these 3 main features at birth or in early infancy. More variable features include hypotonia, gait abnormalities, anisocoria, and visual or hearing deficits. The disorder shows similarity to the triple A syndrome (231550), but patients with AAMR do not have adrenal insufficiency (summary by Koehler et al., 2013).
See also 300858 for a phenotypically similar disorder that shows X-linked inheritance.|OMIM|N|
C4706564|A rare developmental defect during embryogenesis with characteristics of mild to moderate intellectual disability and psychomotor delay, Robin sequence (including severe micrognathia and soft palate cleft) and distinct dysmorphic facial features (e.g. synophrys, short palpebral fissures, hypertelorism, small, low-set and posteriorly angulated ears, bulbous nose, long/flat philtrum and bow-shaped upper lip). Skeletal anomalies such as brachydactyly, clinodactyly, small hands and feet, and oral manifestations (e.g. bifid, short tongue, oligodontia) are also associated. Additional features reported include microcephaly, capillary haemangiomas on face and scalp, ventricular septal defect, corneal clouding, nystagmus and profound sensorineural deafness.|SNOMEDCT_US|N|
C4706566|A rare non-syndromic congenital heart malformation characterised by the presence of a congenital aneurysm of the membranous portion of the interventricular septum. Patients may be asymptomatic or may present with ventricular or supraventricular tachycardia, fatigue, exertional dyspnoea, palpitations, and cardiac murmur. Ventricular septal defects and conduction defects, such as first-degree atrio-ventricular block or incomplete right bundle branch block, may also be also associated.|SNOMEDCT_US|N|
C4706567|A rare genetic developmental defect during embryogenesis disorder with characteristics of the lack of epidermal ridges on the palms and soles, resulting in the absence of fingerprints, with no other associated manifestations. It is associated with a reduced number of sweat gland openings and reduced transpiration of palms and soles. There is evidence the disorder is caused by heterozygous mutation in the SMARCAD1 gene on chromosome 4q22.|SNOMEDCT_US|N|
C4706570|A rare multiple congenital anomalies syndrome with manifestations of bilateral congenital dislocation of the hip, characteristic facial features (flat mid-face, hypertelorism, epicanthus, puffiness around the eyes, broad nasal bridge, carp-shaped mouth), and joint hyperextensibility. Congenital heart defects, congenital dislocation of the knee, congenital inguinal hernia, and vesicoureteric reflux have also been reported. There have been no further descriptions in the literature since 1995.|SNOMEDCT_US|N|
C4706572|A rare bacterial infectious disease caused by extraintestinal infection of non-typhoidal serotypes of Salmonella enterica in patients with underlying HIV infection, malaria or malignancy. It has a high mortality rate and patients typically present with fever, pallor and respiratory signs (cough, tachypnea, pneumonia). Gastrointestinal manifestations (diarrhea, vomiting, abdominal pain) are not common. Occasionally, organ abscesses, septic shock and meningitis may be observed.|SNOMEDCT_US|N|
C4706573|A rare intellectual disability syndrome characterized by macrocephaly, mild dysmorphic features (frontal bossing, long face, hooded eye lids with small, downslanting palpebral fissures, broad nasal bridge, and prominent chin), global neurodevelopmental delay, behavioral abnormalities (e.g. anxiety, stereotyped movements) and absence or generalized tonic-clonic seizures. Additional features reported in some patients include craniosynostosis, fifth finger clinodactyly, recurrent pneumonia, and hepatosplenomegaly. The disease is caused by homozygous or compound heterozygous mutation in the KPTN gene on chromosome 19q13.|SNOMEDCT_US|N|
C4706574|A rare genetic distal myopathy with characteristics of slowly progressive distal limb muscle weakness and atrophy (beginning with anterior tibial muscle involvement followed by the intrinsic hand muscles) in association with reduced sensation in a stocking-glove distribution. Patients present with high stepping gait, ankle areflexia and contractures in the first to second decade of life, associated with marked ankle extensor muscle atrophy; later proximal muscle involvement is moderate and ambulation is preserved throughout the life.|SNOMEDCT_US|N|
C4706575|A rare genetic primary bone dysplasia with characteristics of laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations. Severe disease is associated with multiple fractures, osteopenia, arachnodactyly and blue sclerae. A broad spectrum of additional features, including scoliosis, radio-ulnar synostosis, mild developmental delay and various eye disorders (glaucoma, amblyopia, hyperopia, astigmatism, ptosis), are also reported.|SNOMEDCT_US|N|
C4706582|Limbic encephalitis with caspr2 antibodies is a rare neuroimmunological disorder characterized by the onset of cognitive deficits, psychiatric disturbances (e.g. personality changes), seizures, peripheral nerve hyperexcitability, dysautonomia, neuropathic pain, insomnia and weight loss, in association with detection of caspr2 antibodies in serum or cerebrospinal fluid, with or without underlying malignancies. Other features reported include blepharoclonus, myoclonic status epilepticus, and dyskinesia.|MONDO|N|
C4706583|Limbic encephalitis with LGI1 antibodies is a rare neuroimmunological disorder characterized by the onset of cognitive decline, psychiatric disturbances and seizures (distinctively faciobrachial dystonic seizures) in association with detection of LGI1 antibodies in serum or cerebrospinal fluid. Patients may present with confusion, hallucinations, vocalization, paranoia, tangentiality, aggressive outbursts and/or spatial disorientation, as well as obstinate hyponatremia. It is most often non-paraneoplastic, however comorbid tumors, such as small cell lung cancer and thymoma, have been reported.|MONDO|N|
C4706584|A rare subtype of acute myeloid leukaemia with recurrent cytogenetic abnormalities characterised by clonal proliferation of myeloid blasts with predominantly megakaryoblastic differentiation in the bone marrow and blood, often with extensive infiltration of the abdominal organs. It occurs typically in infants and usually presents with hepatosplenomegaly, anaemia, thrombocytopenia and nonspecific symptoms related to ineffective haematopoesis (fatigue, bleeding and bruising, recurrent infections). Myelofibrosis and fibrosis of other infiltrated organs is also characteristic of this disease.|SNOMEDCT_US|N|
C4706585|An extremely rare subtype of hereditary motor and sensory neuropathy with characteristics of severe, rapidly progressing, distal, symmetric polyneuropathy and microcephaly (which can be evident in utero) with intact cognition. Clinically it presents with delayed motor development, hypotonia, absent or reduced deep tendon reflexes, progressive muscle wasting and weakness and scoliosis.|SNOMEDCT_US|N|
C4706587|A rare neurologic disease with characteristics of tonic posturing or clonic movements triggered by micturition. Involvement of the extremities may be unilateral or bilateral. This may occur with or without loss of consciousness. Developmental delay is reported in some cases.|SNOMEDCT_US|N|
C4706592|A rare genetic developmental defect during embryogenesis with characteristics of various ophthalmic anomalies (including congenital microphthalmia, microcornea, cataract, anterior segment dysgenesis, ocular coloboma and early onset rod-cone dystrophy) and abnormal external ears (low-set pinna with crumpled helix, narrow intertragic incisure, abnormal bridge connecting the crus of the helix and the anthelix, narrow external acoustic meatus and lobule aplasia). There is evidence the disease is caused by homozygous mutation in the HMX1 gene on chromosome 4p16.|SNOMEDCT_US|N|
C4706598|A rare neurologic disease characterised by complex partial seizures with or without secondary generalisation, or idiopathic primarily generalised epilepsy, triggered by sexual orgasm. Seizures usually start immediately, shortly after or a few hours after the achievement of orgasm, last a few seconds or minutes, and are followed, in very rare cases, by intense migraine.|SNOMEDCT_US|N|
C4706599|A rare genetic ectodermal dysplasia syndrome with characteristics of almost total alopecia with only sparse, thin, brittle, slow-growing scalp hair, fair and sparse eyebrows and eyelashes, absent axillary and pubic hair, fragile and brittle fingernails, thick and brittle toenails (both with a subungual corneal layer), hypodontia, microdontia, widely spaced teeth with hypoplastic enamel, mild palmoplantar keratosis, cafe au lait spots and areolae anomalies. There have been no further descriptions in the literature since 1985.|SNOMEDCT_US|N|
C4706601|A rare subtype of orofaciodigital syndrome with sporadic occurrence and characteristics of cardiac (septum hypertrophy) and central nervous system abnormalities (myelomeningocele, Sylvius aqueduct stenosis, corpus callosum agenesis, vermis hypoplasia), in addition to oral, facial and digital malformations (gingival frenulum, bifid tongue, supernumerary teeth, macrocephaly, hypertelorism, pre- and post-axial polydactyly in hands, preaxial polydactyly in feet and club feet). Skeletal anomalies, such as short tibiae and central, Y-shaped metacarpals are also associated.|SNOMEDCT_US|N|
C4706602|A rare subtype of orofaciodigital syndrome, with sporadic occurrence and characteristics of cardiac (mitral and tricuspid valve dysplasia) and neuropsychiatric manifestations (epilepsy, depression), in addition to oral, facial and digital malformations (lingual hamartomas, cleft lip, and brachydactyly, clinodactyly, syndactyly of hands and feet). Leukoaraiosis on brain MRI examination is also associated.|SNOMEDCT_US|N|
C4706604|A rare subtype of orofaciodigital syndrome, with autosomal recessive inheritance and C2CD3 mutations. The disease has characteristics of severe microcephaly, trigonocephaly, severe intellectual disability and micropenis, in addition to oral, facial and digital malformations (gingival frenulum, lingual hamartomas, cleft/lobulated tongue, cleft palate, telecanthus, up-slanting palpebral fissures, microretrognathia, postaxial polydactyly of hands and duplication of hallux). Corpus callosum agenesis and vermis hypoplasia with molar tooth sign on brain imaging are also associated.|SNOMEDCT_US|N|
C4706609|A rare genetic developmental defect during embryogenesis with primary characteristics of congenital hypopituitarism and/or postaxial polydactyly. It can be associated with short stature, delayed bone age, hypogonadotropic hypogonadism, and/or midline facial defects (e.g. hypotelorism, mild midface hypoplasia, flat nasal bridge, and cleft lip and/or palate). Hypoplastic anterior pituitary and ectopic posterior pituitary lobe are frequent findings on MRI examination.|SNOMEDCT_US|N|
C4706610|A rare genetic, poly malformative syndrome with characteristics of progressive, proportionate, asymmetric segmental overgrowth (with soft tissue hypertrophy and ballooning effect) that develops and progresses rapidly in early childhood, arteriovenous and lymphatic vascular malformations, lipomatosis and linear epidermal naevus (arranged in whorls along the lines of Blaschko). Clinical symptoms of Cowden syndrome, such as macrocephaly and progressive development of numerous hypertrophic hamartomatous and neoplastic lesions involving multiple organs and systems are also associated. Patients present an increased risk of developing cancer.|SNOMEDCT_US|N|
C4706614|A rare neurological disease characterized by the development of paresthesia as well as in severe cases progressive paresis and paralysis following irradiation of tumors in which the spinal cord is included within the radiation field. Symptoms may develop months or years after radiation therapy was administered.|SNOMEDCT_US|N|
C4706658|A rare genetic primary bone dysplasia with highly variable phenotype typically characterised by platyspondyly, brachydactyly type E changes (short metacarpals and metatarsals, short distal phalanges in hands and feet), bilateral short ulnae and mild short stature. Other reported features include additional skeletal findings (e.g. midface hypoplasia, degenerative changes in proximal femora, limited elbow extension, bilateral sacralisation of L5, clubfeet), as well as myopia, hearing loss, and intellectual disability.|SNOMEDCT_US|N|
C4706659|A rare bacterial pulmonary infectious disease caused by a Panton-Valentine leukocidin-producing Staphylococcus aureus strain, characterized by severe respiratory failure, extensive, rapidly progressing pneumonia and hemorrhagic lung necrosis. Patients typically present with influenza-like symptoms, such as fever, cough, and chest pain, as well as hemoptysis, hypotension, leukopenia, and severe respiratory symptoms that rapidly evolve to acute respiratory distress syndrome and septic shock. High mortality is associated.|SNOMEDCT_US|N|
C4706660|A rare developmental defect during embryogenesis with the specific association of glandular hypospadias and lumbo-sacral spina bifida. Affected individuals may or may not present additional congenital anomalies, such as hydrocephaly, microstomia, patent ductus arteriosus, cryptorchidism, intestinal malrotation, rocker-bottom feet and hypertrichosis.|SNOMEDCT_US|N|
C4706661|A rare genetic congenital hypothyroidism disorder with characteristics of mild global developmental delay in childhood, short stature, delayed bone age and abnormal thyroid and selenium levels in serum (high total and free T4 concentrations, low T3, high reverse T3, normal to high TSH, decreased selenium). Intellectual disability, primary infertility, hypotonia, muscle weakness and impaired hearing have also been reported. The disease can be caused by homozygous or compound heterozygous mutation in the SECISBP2 gene on chromosome 9q22.|SNOMEDCT_US|N|
C4706676|Syndrome with characteristics of ataxia, delayed dentition, hypomyelination and cerebral atrophy. So far eight cases have been described. There is evidence that the disease is caused by homozygous or compound heterozygous mutation in the POLR3A gene on chromosome 10q22.|SNOMEDCT_US|N|
C4706677|A rare genetic male infertility due to sperm disorder with characteristics of the presence of spermatozoa with abnormal morphology, such as macrozoospermia or globozoospermia, in over 85% of sperm, resulting from mutation in a single gene known to cause teratozoospermia. It is a heterogeneous group that includes a wide range of abnormal sperm phenotypes affecting, solely or simultaneously, head, neck, midpiece and/or tail.|SNOMEDCT_US|N|
C4706678|Postlingual non-syndromic genetic deafness is a rare, genetically highly heterogeneous otorhinolaryngologic disease, resulting from inner and/or middle ear or hearing nerve anomalies, typically characterized by progressive, bilateral, moderate to profound hearing loss (mean sensorineural hearing impairment equal to 40 dB or more for 500-, 1,000-, and 2,000-Hz frequency tones in the better ear) which occurs after the onset of speech development and is not associated with visible external ear abnormalities or any other medical problems. Language development is not initially significantly delayed.|MONDO|N|
C4706679|A rare, genetically highly heterogeneous otorhinolaryngologic disease, resulting from inner and/or middle ear or hearing nerve anomalies, typically characterized by bilateral, severe to profound hearing loss (mean sensorineural hearing impairment of 60 dB or more for 500-, 1,000-, and 2,000-Hz frequency tones in the better ear) which occurs before the onset of speech development and is not associated with visible external ear abnormalities or any other medical problems. It is usually nonprogressive and impedes oral language acquisition.|MONDO|N|
C4706680|A rare flea-borne Rickettsial disease caused by a Rickettsia felis infection. Patients can be asymptomatic or can present with unspecific symptoms such as fever, headache, generalised maculopapular rash, myalgia, arthralgia and, occasionally eschar, lymphadenopathy, nausea, vomiting, loss of appetite and abdominal pain. Rarely, serious manifestations may occur and include neurological dysfunction (photophobia, hearing loss and signs of meningitis) and pulmonary compromise.|SNOMEDCT_US|N|
C4706686|A very rare hereditary epidermal disorder characterised by hypotrichosis/woolly scalp hair, sparse body hair, eyelashes and eyebrows, leukonychia and striate palmoplantar keratoderma (more severe on the soles than the palms), which progressively worsens with age. Pseudo ainhum of the fifth toes was also reported. Although the syndrome shares clinical similarities with both Naxos disease and Carvajal syndrome, cardiomyopathy is notably absent. There is evidence the disease is caused by homozygous mutation in the KANK2 gene on chromosome 19p13|SNOMEDCT_US|N|
C4706889|A rare chromosomal anomaly syndrome with a highly variable phenotype. Principle characteristics are developmental or growth delay, short stature, craniofacial dysmorphism (turricephaly, tall forehead, downslanting palpebral fissures, posteriorly rotated and low set ears, narrow palate), congenital heart defects (atrial septal defect, patent ductus arteriosus), hypotonia, and pigmentary dysplasia. Scoliosis, hearing loss, facial/body asymmetry and intellectual disability have also been reported.|SNOMEDCT_US|N|
C4706933|A rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 13 with variable phenotype. Principle characteristics are intellectual disability, psychomotor delay, craniofacial dysmorphism (microcephaly, bushy eyebrows, long curled eyelashes, hypotelorism, low-set ears, prominent nasal bridge, long philtrum, high palate, thin upper lip), short neck, polydactyly, and haemangiomas. Cardiac, urogenital and neural tube defects, as well as umbilical and inguinal hernias, seizures and hypotonia, have also been reported.|SNOMEDCT_US|N|
C4706934|A rare chromosomal anomaly syndrome resulting from the partial trisomy of the long arm of chromosome 16 with variable phenotype. Principle characteristics are developmental delay, severe intellectual disability, hypotonia, facial dysmorphism (high, prominent forehead, epicanthic folds, dysplastic ears, broad/depressed nasal bridge, malar hypoplasia, narrow and arched palate, thin upper lip vermilion, micrognathia) and hand/feet anomalies (arachnodactyly, talipes equinovarus). Cardiac defects, genitourinary malformations and vertebral anomalies are also associated. Thrombocytopenia and recurrent infections have also been reported.|SNOMEDCT_US|N|
C4706935|A rare chromosomal anomaly syndrome resulting from partial trisomy of the long arm of chromosome 20 with high phenotypic variability. The disease has characteristics of neurodevelopmental delay, cardiac malformations (ventricular septal defect, coarctation of aorta) and facial dysmorphism (large/high forehead, microphthalmia, upslanting palpebral fissures, epicanthus, large, long, low-set ears, anteverted nares, protruding upper lip, cleft lip/palate, micro/retrognathia, dimpled chin). Skeletal (brachydactyly, scoliosis, pectus excavatum) and cerebral anomalies have also been reported.|SNOMEDCT_US|N|
C4706936|A rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 22 with variable phenotype. Principle characteristics are varying degrees of intellectual disability and developmental delay, pre and postnatal growth deficiency, hypotonia, and craniofacial dysmorphism (microcephaly, hypertelorism, narrow and upslanted palpebral fissures, epicanthic folds, low-set dysplastic ears, broad and depressed nasal bridge, cleft lip an/or palate, long philtrum, retro/micrognathia). Congenital heart defects, as well as cerebral, skeletal, renal and genital anomalies have also been reported.|SNOMEDCT_US|N|
C4706937|A rare chromosomal anomaly syndrome resulting from the partial duplication of the short arm of chromosome 2 with a highly variable phenotype. Principle characteristics are pre and post-natal growth failure, global developmental delay, facial dysmorphism (high forehead/frontal bossing, abnormal ear shape and/or position, hypertelorism/telecanthus, broad/depressed nasal bridge) and ocular anomalies (exophthalmos, retinal hypopigmentation, optic nerve and foveal hypoplasia). Other reported anomalies include hypotonia, pectus excavatum, long fingers and toes, syndactyly, congenital heart (ventricular, atrial septal defects) and neural tube defects, seizures, pulmonary hypoplasia, diaphragmatic hernia and urogenital anomalies.|SNOMEDCT_US|N|
C4706938|A rare chromosomal anomaly syndrome resulting from the partial duplication of the short arm of chromosome 3 with highly variable phenotype. Principle characteristics are craniofacial dysmorphism (brachy/microcephaly, square facies, frontal bossing, bitemporal indentation, hypertelorism/telecanthus, low-set and/or dysmorphic ears, short nose with broad, flat nasal bridge, prominent cheeks and philtrum, downturned corners of mouth, micrognathia/retrognathia, short neck) associated with psychomotor delay, moderate to severe intellectual disability, cardiac (patent ductus arteriosus) and urogenital (renal hypoplasia, hypogenitalism) abnormalities, as well as seizures and presence of whorls on fingers.|SNOMEDCT_US|N|
C4706939|A rare chromosomal anomaly resulting from the partial trisomy of the long arm of chromosome 9 with a variable phenotype. The disease has characteristics of psychomotor and speech delay, intellectual disability, hypotonia, long narrow habitus, craniofacial dysmorphism (micro/dolichocephaly, facial asymmetry, narrow palpebral fissures, deep-set eyes, strabismus, microphthalmia, abnormally shaped ears, microstomia, micro/retrognathia) and hand and feet anomalies (arachnodactyly, camptodactyly, abnormal implantation of digits). Congenital flexion contractures and limited joint movements have also been observed.|SNOMEDCT_US|N|
C4706940|A very rare congenital anomaly of the great arteries characterized by the presence of two aortic arches (right and left) which encircle and compress the trachea and esophagus, resulting in various respiratory and gastrointestinal symptoms (e.g. harsh breathing, stridor, dyspnea, cyanotic and choking episodes, chronic cough, recurrent respiratory tract infections, dysphagia and reflux). Esophageal atresia and tracheoesophageal fistula have also been reported. It usually occurs isolated, but, on occasion, may be associated with other congenital heart anomalies and chromosomal aberrations.|SNOMEDCT_US|N|
C4706941|A rare genetic hair anomaly with characteristics of a prolonged anagen phase of the eyelash hairs, leading to extreme eyelash growth that may result in corneal irritation. Increased growth of hair on other parts of the face (eyebrows, cheeks, forehead) and/or the body (chest, arms, legs) may be associated. There is evidence the disease is caused by homozygous mutation in the FGF5 gene on chromosome 4q21.|SNOMEDCT_US|N|
C4706942|A rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 22 with a highly variable phenotype. Principle characteristics are developmental delay, intellectual disability, hypotonia, growth retardation, velopharyngeal insufficiency, mild craniofacial dysmorphism (microcephaly, tall/broad forehead, small downslanting palpebral fissures, hooded eyelids, flat nasal bridge, low posterior hairline) and digital anomalies. Congenital heart malformations, visual and hearing impairment, urogenital abnormalities and seizures have also been reported.|SNOMEDCT_US|N|
C4707009|A rare chromosomal anomaly syndrome with a highly variable phenotype. Manifestations range from minor anomalies with normal development to intrauterine growth retardation, abnormal skin pigmentation, craniofacial and body asymmetry, cardiac (ventricular septal defect) and genital (hypospadias, cryptorchidism) anomalies, scoliosis and hearing loss to neonatal death. Additional features observed include skeletal malformations (clino/polydactyly, talipes), mild facial dysmorphism, and developmental delay.|SNOMEDCT_US|N|
C4707010|A rare chromosomal anomaly syndrome with a highly variable phenotype. Principle characteristics are intrauterine growth restriction, growth and motor delay, craniofacial dysmorphism (microcephaly, hypertelorism, micro/anophthalmia, midface hypoplasia, cleft lip/palate), congenital heart and neural tube defects, as well as various skeletal (scoliosis, radioulnar hypoplasia, preaxial polydactyly) and gastrointestinal (intestinal malrotation, Hirschsprung disease) anomalies. Central nervous system malformations (including ventriculomegaly, thin corpus callosum, spina bifida) have also been reported.|SNOMEDCT_US|N|
C4707012|A rare chromosomal anomaly syndrome with high phenotypic variability. Manifestations range from a mild phenotype presenting joint pain and laxity, mild facial dysmorphism (long facies, prominent eyes, dysplastic ears, downturned corners of the mouth, micrognathia) and no developmental delays to more severe phenotypes including short stature, intellectual disability, severe developmental delays, additional craniofacial dysmorphic features (brachycephaly, high forehead, flat midface, short neck) and hearing impairment, as well as skeletal (pectus excavatum, scoliosis), ocular (coloboma) and cardiac abnormalities.|SNOMEDCT_US|N|
C4707057|An extremely rare autosomal anomaly resulting from the presence of 4 copies of chromosome 21. The disease is characterised by features of trisomy 21 including developmental delay/intellectual disability, muscular hypotonia, short neck with redundant skin, brachycephaly, microcephaly, flat face, epicanthus, upslanted palpebral fissures, small ears, protruding tongue, single transverse palmar crease, brachydactyly, hypoplastic iliac wings, together with additional features such as prematurity, intrauterine growth retardation, high and broad forehead, hypertelorism. Haematological malignancies are also associated and may occur earlier than in trisomy 21.|SNOMEDCT_US|N|
C4707092|A rare partial monosomy of the short arm of chromosome 17 with a variable phenotype. The disease has characteristics of prenatal and postnatal growth retardation, developmental delay, mild intellectual disability, macrocephaly, mild facial dysmorphism including prominent forehead, hypertelorism, thick upper and/or lower lip vermillion and structural abnormalities of the brain variably including white matter abnormalities, prominent Virchow-Robin spaces, Chiari I malformation, corpus callosum hypoplasia but not lissencephaly.|SNOMEDCT_US|N|
C4707093|A rare chromosomal anomaly syndrome, resulting from a partial interstitial micro duplication of the short arm of chromosome 7. The disease has characteristics of intellectual disability, psychomotor and speech delay, craniofacial dysmorphism (including macrocephaly, frontal bossing, hypertelorism, abnormally slanted palpebral fissures, anteverted nares, low-set ears, microretrognathia) and cryptorchidism. Cardiac (patent foramen ovale and atrial septal defect), as well as renal, skeletal and ocular abnormalities may also be associated.|SNOMEDCT_US|N|
C4707094|A rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome X, characterised by global developmental delay, autistic behaviour, microcephaly and facial dysmorphism (including down-slanting palpebral fissures, depressed nasal bridge, anteverted nares, long philtrum, down-slanting corners of the mouth). Seizures have also been reported in some patients.|SNOMEDCT_US|N|
C4707097|A rare chromosomal anomaly syndrome resulting from a partial interstitial deletion of the short arm of chromosome 9. The disease has characteristics of mild to moderate developmental delay, hand tremors, myoclonic jerks, attention deficit-hyperactivity disorder and a social personality. Patients also present bruxism, short stature and minor facial dysmorphic features (bilateral epicanthic folds, broad, flat nasal bridge, anteverted nares, low-set ears micro/retro-gnathia).|SNOMEDCT_US|N|
C4707098|A rare mitochondrial oxidative phosphorylation disorder due to nuclear deoxyribonucleic acid anomalies. The disease is characterised by progressive external ophthalmoplegia without diplopia, cerebellar atrophy, proximal skeletal muscle weakness with generalised muscle wasting, profound emaciation, respiratory failure, spinal deformity and facial muscle weakness (manifesting with ptosis, dysphonia, dysphagia and nasal speech). Intellectual disability, gastrointestinal symptoms (nausea, abdominal fullness, and loss of appetite), dilated cardiomyopathy and renal colic have also been reported.|SNOMEDCT_US|N|
C4707099|A rare cancer of corpus uteri composed of squamous cells of varying degree of differentiation that usually affects postmenopausal women and presents with abnormal vaginal discharge, dysfunctional bleeding, abdominal pain and distension. It is often associated with cervical stenosis and pyometra.|SNOMEDCT_US|N|
C4707101|A chromosomal condition occurring when a piece of the long (q) arm of chromosome 18 is missing near the center of the chromosome. The disease has a wide range of characteristics including developmental delay, intellectual disability, delayed expressive language skills, recurrent seizures and hypotonia. Macrocephaly may also be associated along with characteristic facial features including prominent forehead, ptosis, downslanting palpebral fissures, puffy periorbital tissue, and full cheeks. Most cases of proximal 18q deletion syndrome are the result of a new (de novo) deletion and are not inherited from a parent.|SNOMEDCT_US|N|
C4707154|A rare parasitic disease characterised by the infestation of natural body cavities with dipteran larvae. Clinical presentation is variable depending on the affected site(s) and degree of infestation and include foreign-body sensation (with or without movement sensation), haemorrhage, pain, oedema, sensory loss, malodour, and pruritus, among others. Neurological features (motor deficits, seizures, reduced mental status, extrapyramidal signs) have been reported in cerebral myiasis.|SNOMEDCT_US|N|
C4707155|A rare inherited neuromuscular disease with prenatal presentation (usually in the second trimester) of reduced fetal movements and abnormal positioning. This results in joint abnormalities that may involve both lower and upper extremities and is usually symmetric. Also associated with severe hypotonia at birth, bilateral club foot, motor development delay, mild facial weakness without ophthalmoplegia, absent deep tendon reflexes, normal motor and sensory nerve conduction velocities, no cerebellar or pyramidal involvement and progressive disease course with loss of ambulation after the first decade of life.|SNOMEDCT_US|N|
C4707158|On assessment the patient is determined to be physically prepared to undergo surgery.|SNOMEDCT_US|N|
C4707159|On assessment the patient is determined to be psychologically prepared to undergo surgery.|SNOMEDCT_US|N|
C4707173|A rare form of axonal peripheral sensorimotor neuropathy with characteristics of classical Charcot-Marie-Tooth type 2 signs and symptoms (progressive weakness and atrophy of distal limb muscles, mild sensory deficits of position, vibration and pain/temperature, pes cavus, and symmetrically absent or reduced muscle and sensory action potentials with relatively preserved nerve conduction velocities in neurophysiological studies) as well as pyramidal tract involvement (spasticity, hyperreflexia). Spasticity and pain may be the presenting symptoms.|SNOMEDCT_US|N|
C4707178|A subtype of acute myeloid leukaemia with recurrent genetic abnormalities, characterised by clonal proliferation of myeloid blasts harbouring somatic mutations of the CEBPA gene in the bone marrow, blood and rarely other tissues. It can present with anaemia, thrombocytopenia, and other nonspecific symptoms related to ineffective haematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly).|SNOMEDCT_US|N|
C4707179|A rare subtype of renal cell carcinoma, occurring in the context of end-stage kidney disease and acquired cystic kidney disease, characterised by a usually well circumscribed, solid, multifocal, bilateral tumour with inter or intracellular micro lumen formation (leading to cribiform architecture). Tumours are often diagnosed incidentally in early stages, although complications caused by renal cysts (dull flank or abdominal pain, fever) or renal parenchymal bleeding may mask the underlying neoplastic process. Most have an indolent behaviour.|SNOMEDCT_US|N|
C4707180|A rare genetic dysostosis syndrome with marked inter and intra-familial variation with typical characteristics of triphalangeal thumbs, hand and/or foot polysyndactyly and/or absent/hypoplastic tibiae (associated with duplication of fibulae in some cases), although isolated triphalangeal thumbs have also been reported. It is often accompanied with remarkable short stature and additional features may include radio-ulnar synostosis and hand oligodactyly, as well as abnormal carpal and metatarsal bones.|SNOMEDCT_US|N|
C4707181|The non-syndromic form of a primary immunodeficiency disease characterised by deficient gamma globulins and associated predisposition to frequent and recurrent infections from infancy. Two forms have been described: X-linked represents approximately 85% of the affected patients, and autosomal which includes recessive and dominant cases but is far less frequent. The clinical signs of the two forms are very similar and include recurrent bacterial infections, diarrhoea and skin infections with onset in infancy. Defects in B lymphocyte development and maturation appear to underlie agammaglobulinaemia. Mutations in seven genes have been reported to be related to IA: BTK (Xq21.33-q22), BLNK (10q23.2-q23.33), CD79A (19q13.2), CD79B (17q23), IGHM(14q32.33), IGLL1 (22q11.23), PIK3R1 (5q13.1) and TCF3 (19p13.3).|SNOMEDCT_US|N|
C4707188|A scheduled procedure that is not performed on the scheduled procedure day and the decision not to perform the procedure takes place before anaesthesia start time.|SNOMEDCT_US|N|
C4707189|A scheduled procedure that is not performed on the scheduled procedure day and the decision not to perform the procedure takes place after anaesthesia start time but before anaesthesia induction time.|SNOMEDCT_US|N|
C4707190|A scheduled procedure that is not performed on the scheduled procedure day and the decision not to perform the procedure takes place after anaesthesia induction time but before procedure/surgery start time.|SNOMEDCT_US|N|
C4707228|A rare malignant haematologic disease characterised by clonal proliferation of myeloid blasts, primarily involving the bone marrow, in association with congenital disorders (e.g. Fanconi anemia, dyskeratosis congenita, Bloom syndrome, Down syndrome, congenital neutropenia, neurofibromatosis) and genetic defects predisposing to acute myeloid leukaemia. Patients present with signs and symptoms related to ineffective haematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly). Depending on the underlying genetic defect, there may be additional cancer risks and other health problems present.|SNOMEDCT_US|N|
C4707229|A rare genetic developmental defect during embryogenesis with characteristics of a range of developmental eye anomalies (including anophthalmia, microphthalmia, colobomas, microcornea, corectopia, cataract) and symmetric limb rhizomelia with short stature and contractures of large joints. Intellectual disability with autistic features, macrocephaly, dysmorphic features, urogenital anomalies (hypospadia, cryptorchidism), cutaneous syndactyly and precocious puberty may also be present.|SNOMEDCT_US|N|
C4707232|Centronuclear myopathy is a condition characterized by muscle weakness (myopathy) and wasting (atrophy) in the skeletal muscles, which are the muscles used for movement. The severity of centronuclear myopathy varies among affected individuals, even among members of the same family.\n\nA key feature of centronuclear myopathy is the displacement of the nucleus in muscle cells, which can be viewed under a microscope. Normally the nucleus is found at the edges of the rod-shaped muscle cells, but in people with centronuclear myopathy the nucleus is located in the center of these cells. How the change in location of the nucleus affects muscle cell function is unknown.\n\nPeople with centronuclear myopathy begin experiencing muscle weakness at any time from birth to early adulthood. The muscle weakness slowly worsens over time and can lead to delayed development of motor skills, such as crawling or walking; muscle pain during exercise; and difficulty walking. Some affected individuals may need wheelchair assistance as the muscles atrophy and weakness becomes more severe. In rare instances, the muscle weakness improves over time.\n\nSome people with centronuclear myopathy experience mild to severe breathing problems related to the weakness of muscles needed for breathing. People with centronuclear myopathy may have droopy eyelids (ptosis) and weakness in other facial muscles, including the muscles that control eye movement. People with this condition may also have foot abnormalities, a high arch in the roof of the mouth (high-arched palate), and abnormal side-to-side curvature of the spine (scoliosis).  Rarely, individuals with centronuclear myopathy have a weakened heart muscle (cardiomyopathy), disturbances in nerve function (neuropathy), or intellectual disability.|MedlinePlus Genetics|N|
C4707233|A rare multiple congenital anomalies syndrome characterized by psychomotor delay, severe intellectual deficit, severe muscle hypoplasia (with absence of subcutaneous fatty tissue), generalized contractures, craniofacial dysmorphic features (dolichocephaly, esotropia, ears of unequal size, high palate), chest and spinal deformities (sternum shifted to side, kyphoscoliosis), pulmonary anomalies (unilateral hypoplastic bronchial system), arachnodactyly, and genital abnormalities (cryptorchidism, hypospadias, testicular agenesis). Repeated respiratory tract infections and atelectasis are also associated. There have been no further descriptions in the literature since 1970.|SNOMEDCT_US|N|
C4707235|A rare non-syndromic congenital heart malformation with characteristics of the prolapse of an aortic valve cusp into a subjacent ventricular septal defect due to Venturi effect, resulting in aortic regurgitation. Patients typically present with symptoms of progressive aortic valve insufficiency, such as shortness of breath, heart palpitations and chest pain and exercise intolerance.|SNOMEDCT_US|N|
C4707236|A rare primary bone dysplasia with characteristics of a Larsen-like phenotype including multiple, congenital, large joint dislocations, craniofacial abnormalities (macrocephaly, flat occiput, prominent forehead, hypertelorism, low-set, malformed ears, flat nose, cleft palate), spinal abnormalities, cylindrical fingers, and talipes equinovarus, as well as growth retardation (resulting in short stature) and delayed bone age. Other reported clinical manifestations include severe developmental delay, hypotonia, clinodactyly, congenital heart defect and renal dysplasia.|SNOMEDCT_US|N|
C4707237|An isolated focal, hereditary palmoplantar keratoderma with characteristics of linear hyperkeratosis along the flexor aspect of the fingers and on palms, as well as focal hyperkeratosis of the plantar skin. Patients present with painful thickening of the skin on palms and soles with occasional fissuring, blistering and hyperhidrosis. Rarely, hyperkeratosis on other areas may be seen (knees, dorsal aspects of the digits). Histopathologically widened intercellular spaces between keratinocytes are observed.|SNOMEDCT_US|N|
C4707238|A rare genetic chronic primary adrenal insufficiency disorder due to partial loss-of-function CYP11A1 mutations. The disease has characteristics of early-onset adrenal insufficiency without associated abnormal external male genitalia. Patients present with signs of adrenal crisis, including electrolyte abnormalities, severe weakness, recurrent vomiting and seizures. Ultrasound reveals absent (or very small) adrenal glands.|SNOMEDCT_US|N|
C4707240|Rare infectious encephalitis characterised by an acute onset of neurological signs and symptoms (altered consciousness, seizures, headaches, meningeal signs, behavioural changes) due to bacterial infection by Mycoplasma pneumoniae. Patients typically present unspecific signs and symptoms such as fever, nausea, vomiting, fatigue prior to onset of neurological manifestations and frequently have a history of a respiratory tract infection (pneumonia, bronchiolitis, pharyngitis).|SNOMEDCT_US|N|
C4707243|Familial thoracic aortic aneurysm and dissection (familial TAAD) involves problems with the aorta, which is the large blood vessel that distributes blood from the heart to the rest of the body. Familial TAAD affects the upper part of the aorta, near the heart. This part of the aorta is called the thoracic aorta because it is located in the chest (thorax). Other vessels that carry blood from the heart to the rest of the body (arteries) can also be affected.\n\nIn familial TAAD, the aorta can become weakened and stretched (aortic dilatation), which can lead to a bulge in the blood vessel wall (an aneurysm). Aortic dilatation may also lead to a sudden tearing of the layers in the aorta wall (aortic dissection), allowing blood to flow abnormally between the layers. These aortic abnormalities are potentially life-threatening because they can decrease blood flow to other parts of the body such as the brain or other vital organs, or cause the aorta to break open (rupture).\n\nThe occurrence and timing of these aortic abnormalities vary, even within the same affected family. They can begin in childhood or not occur until late in life. Aortic dilatation is generally the first feature of familial TAAD to develop, although in some affected individuals dissection occurs with little or no aortic dilatation.\n\nAortic aneurysms usually have no symptoms. However, depending on the size, growth rate, and location of these abnormalities, they can cause pain in the jaw, neck, chest, or back; swelling in the arms, neck, or head; difficult or painful swallowing; hoarseness; shortness of breath; wheezing; a chronic cough; or coughing up blood. Aortic dissections usually cause severe, sudden chest or back pain, and may also result in unusually pale skin (pallor), a very faint pulse, numbness or tingling (paresthesias) in one or more limbs, or paralysis.\n\nFamilial TAAD may not be associated with other signs and symptoms. However, some individuals in affected families show mild features of related conditions called Marfan syndrome or Loeys-Dietz syndrome. These features include tall stature, stretch marks on the skin, an unusually large range of joint movement (joint hypermobility), and either a sunken or protruding chest. Occasionally, people with familial TAAD develop aneurysms in the brain or in the section of the aorta located in the abdomen (abdominal aorta). Some people with familial TAAD have heart abnormalities that are present from birth (congenital). Affected individuals may also have a soft out-pouching in the lower abdomen (inguinal hernia), an abnormal curvature of the spine (scoliosis), or a purplish skin discoloration (livedo reticularis) caused by abnormalities in the tiny blood vessels of the skin (dermal capillaries). However, these conditions are also common in the general population. Depending on the genetic cause of familial TAAD in particular families, they may have an increased risk of developing blockages in smaller arteries, which can lead to heart attack and stroke.|MedlinePlus Genetics|N|
C4707246|Biallelic mutation carriers have a mutation (not necessarily the same mutation) in both copies of a particular gene (a paternal and a maternal mutation). The RPE65 gene provides instructions for making an enzyme that is essential for normal vision and mutations in this gene result in reduced or absent levels of RPE65 activity, blocking the visual cycle and resulting in impaired vision. Almost all patients eventually progress to complete blindness.|SNOMEDCT_US|N|
C4707257|Mucinous tubular and spindle cell renal carcinoma is a rare subtype of renal cell carcinoma characterized, histologically, by tubular architecture and sheets of spindle cells embedded in a mucinous/myxoid stroma and, macroscopically, by a solid, generally well-circumscribed, partially encapsulated tumor of variable size, with a homogenously colored, bulging cut surface, occassionally containing areas of hemorrhage or necrosis, usually located in the cortex. Patients can present abdominal/flank pain, adbominal mass and/or hematuria, however most are asymptomatic and tumor is discovered incidentally. Indolent behavior is frequent and association with nephrolithiasis and end-stage kidney disease has been noted.|ORDO|N|
C4707258|A rare myofibrillar myopathy with characteristics of slowly progressive, proximal skeletal muscle weakness, which is initially more prominent in lower extremities and involves upper extremities with disease progression. Patients present with difficulty climbing stairs, a waddling gait, marked winging of scapula, lower back pain, paresis of limb girdle musculature, hypo or areflexia and/or mild facial muscle weakness in rare cases. Respiratory muscle weakness is common and cardiac anomalies (conduction blocks, tachycardia, diastolic dysfunction, left ventricular hypertrophy) have been reported in some cases.|SNOMEDCT_US|N|
C4707259|A rare congenital non-dystrophic mild slowly progressive proximal myopathy characterized by exercise intolerance and post-exercise myalgia without rhabdomyolysis, associated with highly organized hexagonally cross-linked tubular arrays in skeletal muscle biopsy. Additional features may include muscle atrophy (or diffuse hypotrophy), myalgia with or without muscular weakness, paresis of truncal and limb-girdle musculature, minimal ptosis, lumbar hyperlordosis, decreased deep tendon reflexes, contractures and pes equinovarus.|SNOMEDCT_US|N|
C4707260|A rare chromosomal anomaly disorder resulting from the partial duplication of the proximal long arm of chromosome 13 with a highly variable phenotype. The disease is principally characterised by increased polymorphonuclear leucocyte projections and persistence of fetal haemoglobin, growth and developmental delay and craniofacial dysmorphism (including microcephaly, depressed nasal bridge, stubby nose, low-set, malformed ears, cleft lip/palate, micrognathia). Strabismus, clinodactyly and undescended testes in males may also be associated.|SNOMEDCT_US|N|
C4707261|A rare chromosomal anomaly syndrome resulting from the partial trisomy of the long arm of chromosome 9. The disease has a highly variable phenotype principally characterised by developmental delay, short stature, intellectual disability and craniofacial dysmorphism (microcephaly, broad forehead, low set ears, epicanthus, prominent nose and retrognathia). Cardiac, ocular, thyroid and oesophagus defects along with central nervous system and behavioural/psychiatric abnormalities have also been reported.|SNOMEDCT_US|N|
C4707262|Non-herpetic acute limbic encephalitis is a rare neuroinflammatory/neuroautoimmune disease characterized by an acute (or subacute) onset of disturbance of consciousness (occasionally presenting as convulsions) and high fever, associated with cerebral lesions (on magnetic resonance imaging) that are restricted to the limbic system (particularly the hippocampi and amygdalae), in the absence of viral, bacterial, fungal, paraneoplastic and other disorders.|MONDO|N|
C4707263|A rare neuroendocrine neoplasm arising from neural crest-derived paraganglion cells (most often in the para-aortic region at the level of renal hilii, organ of Zuckerkandl, thoracic paraspinal region, bladder and carotid body) not associated with catecholamine secretion. These neoplasms are usually clinically silent and symptoms if present are nonspecific and depend on the location of the neoplasm. Association with certain hereditary cancer-predisposing syndromes, such as multiple endocrine neoplasia, neurofibromatosis type 1 or von Hippel lindau syndrome may be observed.|SNOMEDCT_US|N|
C4707290|A syndrome caused by germline mutations in the BAP1 gene. It is inherited in an autosomal dominant pattern. Individuals carrying heterozygous BAP1 mutations have an increased risk of developing various tumor types, most commonly BAP1-inactivated nevi /melanocytomas of the skin, uveal and cutaneous melanomas, peritoneal and pleural mesotheliomas, clear cell renal cell carcinoma, and basal cell carcinoma. (WHO 2018)|NCI|N|
C4707306|A rare genetic neurological disorder with early infantile-onset of seizures, borderline to moderate intellectual disability, cerebellar features including dysarthria and ataxia and cerebellar atrophy and cortical thickening observed on MRI imaging. Seizures are typically focal (with prominent eye blinking, facial and limb jerking), precipitated by fever and often commence with an oral sensory aura. When not properly controlled by anti-epileptic medication, weekly frequency and persistence into adult life is observed.|SNOMEDCT_US|N|
C4707308|Rare genetic epilepsy characterized by speech disorder (including a range of symptoms from dysarthria, speech dyspraxia, receptive and expressive language delay/regression and acquired aphasia to subtle impairments of conversational speech) and epilepsy (mostly focal and secondary generalized childhood-onset seizures, sometimes with aura). Mild to severe intellectual disability may also be observed.|SNOMEDCT_US|N|
C4707327|A rare progressive dermis disorder with characteristics of thickening of the scalp resulting in redundancy of skin which gives rise to folds and grooves that give the scalp a cerebriform appearance. Folds cannot be corrected by pressure or traction and typically are symmetric and extend anteroposteriorly from vertex to occiput and/or transversely in occipital region. Additional features may include mild subungual hyperkeratosis and distal onycholysis of the nail plates of the great toes. It is not associated with neurological and ophthalmological changes or with secondary causes.|SNOMEDCT_US|N|
C4707328|A rare inborn error of metabolism disease with characteristics of mild to moderate persistent elevation of methylmalonic acid in plasma, urine and cerebrospinal fluid. Clinical presentation may include acute metabolic decompensation with metabolic acidosis (presenting with vomiting, dehydration, confusion, hallucinations), nonspecific neurological symptoms or the disease may also be asymptomatic.|SNOMEDCT_US|N|
C4707329|A rare maternal disease-related embryofetopathy with characteristics of variable developmental anomalies of the fetus due to teratogenic effect of elevated maternal body temperature (resulting from febrile illness or hot environment exposure). Reported developmental anomalies include neural tube defects (spina bifida, encephalocele, anencephaly), cardiac defects (transposition of great vessels), urogenital defects (hypospadias), abdominal wall defects, cleft lip/palate, eye defects (cataract, coloboma) or various minor anomalies (for example bifid uvula, preauricular pit or tag). Consensus regarding cause and effect relationship has not been reached.|SNOMEDCT_US|N|
C4707330|A rare chromosomal anomaly syndrome resulting from the partial duplication of the short arm of chromosome 8 with a highly variable phenotype. Principle characteristics are mild to moderate developmental delay, intellectual disability, mild facial dysmorphism (including prominent forehead, arched eyebrows, broad nasal bridge, upturned nares, cleft lip and/or palate) and congenital cardiac anomalies (atrioventricular septal defect). Other reported features include macrocephaly, attention deficit disorder, seizures, hypotonia and ocular and digital anomalies (poly or syndactyly).|SNOMEDCT_US|N|
C4707331|A rare normolipemic non-Langerhans cell histiocytosis characterised by progressive growth of multiple to disseminated asymptomatic skin lesions that range in appearance from yellow plaques to coalescence-prone red-brown papules, nodules and pedunculated tumours up to 5 cm in size, located typically on the face, trunk and extremities (and rarely on conjunctiva and mucous membranes). Characteristic microscopic findings include a storiform spindle cell infiltrate in the deep dermis with xanthoma macrophages and some Touton cells in the upper dermis. It is usually not associated with systemic disease.|SNOMEDCT_US|N|
C4707332|A rare chromosomal anomaly syndrome resulting from a partial duplication of the short arm of chromosome 16. The disease has characteristics of developmental delay and intellectual disability of a highly variable degree, autism spectrum, obsessive-compulsive, attention deficit hyperactivity disorder, speech articulation abnormalities, muscular hypotonia, tremor, hyper or hyporeflexia, seizures, microcephaly, neuroimaging abnormalities, decreased body mass index and schizophrenia or bipolar disorder later on in life.|SNOMEDCT_US|N|
C4707333|Isolated non-familial catecholamin-producing tumours arising from neuroendocrine chromaffin cells in the adrenal medulla or in extra-adrenal chromaffin tissue, respectively. The majority of these tumours are benign and the presenting symptoms are typically caused by the increased catecholamine production of the tumour, including hypertension (often paroxysmal), tachycardia, anxiety and/or excessive sweating.|SNOMEDCT_US|N|
C4707334|A form of severe combined immunodeficiency (SCID) characterised by severe and recurrent infections, associated with diarrhoea and failure to thrive. The disease manifests during the first months of life with severe and often life threatening viral, bacterial or fungal and failure to thrive. Chronic diarrhoea is a frequent finding. Some patients may have skin rashes and abnormalities of liver function. Immunological findings are lymphopenia with the absence of T and NK cells, hypogammaglobulinaemia, and normal or increased B cell count. The disease results from a defect in the IL2RG gene encoding the common gamma chain and transmission is X-linked.|SNOMEDCT_US|N|
C4707355|A rare genetic T cell negative B cell negative severe combined immunodeficiency disorder due to null mutations in recombination activating gene (RAG) 1 and/or RAG2 resulting in less than 1% of wild type V(D)J recombination activity. Patients present with neonatal onset of life threatening, severe, recurrent infections by opportunistic fungal, viral and bacterial microorganisms, as well as skin rashes, chronic diarrhoea, failure to thrive and fever. Immunologic observations include profound T- and B-cell lymphopenia, normal NK counts and low or absent serum immunoglobulins, some patients may have eosinophilia.|SNOMEDCT_US|N|
C4707356|A rare benign sex cord-stromal neoplasm with a typically unilateral location in the ovary. The disease has characteristics of mixed features of both fibroma and thecoma. Patients may be asymptomatic or may present with pelvic/abdominal pain and/or distension and occasionally, with post-menopausal bleeding. Large neoplasms of greater than 10cm are often associated with pleural effusion and ascites (Meig syndrome triad).|SNOMEDCT_US|N|
C4707358|A rare late adult-onset myofibrillar myopathy with characteristics of progressive distal muscle weakness associated with peripheral neuropathy and hyporeflexia. Ambulation may be lost within a few years.|SNOMEDCT_US|N|
C4707359|Disease with characteristics of variable degrees of muscle weakness due to progressive skeletal myopathy sometimes associated with dilated cardiomyopathy or left ventricle dilation. Duchenne and Becker muscular dystrophies primarily affect males and only a small percentage of female carriers have been reported to manifest these diseases. Symptomatic female carriers usually present later in life, muscle weakness is generally mild to moderate and is usually proximal and asymmetric, some patients present with cardiac manifestations alone. Females with clinical features are usually carriers of X-chromosome rearrangements, display skewed X-inactivation or have Turner syndrome.|SNOMEDCT_US|N|
C4707361|A rare benign neoplasm of the central nervous system characterised by the development of multiple or rarely solitary meningioma in two or more blood relatives without other apparent syndromic manifestations. Depending on the localisation, growth rate and size of the tumours, patients can present with subtle, gradually worsening or abrupt and severe neurological compromise or can be completely asymptomatic.|SNOMEDCT_US|N|
C4707368|A rare neurologic disease with characteristics of the triad of optic ataxia, ocular apraxia and simultanagnosia due to posterior parietal lobe lesions. Patients report ophthalmologic difficulties in the absence of underlying ophthalmologic anomalies and present severe visual and spatial disabilities in locating and reaching objects, initiating voluntary eye movements and perceiving more than one object at a time.|SNOMEDCT_US|N|
C4707373|A form of non-Langerhans cell histiocytosis with characteristics of cutaneous presentation of solitary or disseminated yellow to orange-brown papular or papulonodular, noncoalescent, asymptomatic skin lesions located predominantly on the head, neck, trunk and extremities (rarely on oral mucosa), in the presence of normal lipid levels. Microscopically, the lesions consist of monomorphous infiltrate of xanthoma macrophages and numerous Touton giant cells, with scant or absent inflammatory infiltrate. It is usually not associated with systemic disease.|SNOMEDCT_US|N|
C4707381|A rare genetic male infertility with characteristics of azoospermia resulting from a mutation in a single gene known to cause azoospermia. Sperm morphology may be normal.|SNOMEDCT_US|N|
C4707382|A rare genetic male infertility due to oligozoospermia (number of sperm in the ejaculate inferior to 15 million/mL) resulting from a mutation in a single gene known to cause oligozoospermia. Sperm morphology may be normal.|SNOMEDCT_US|N|
C4707386|Used to describe an individual who does not experience sexual attraction.|NCI|N|
C4707403|Disease that is characterised by severe microcytic anaemia, B-cell lymphopenia, panhypogammaglobulinaemia and variable neurodegeneration. The disease presents in infancy with recurrent febrile illnesses, gastrointestinal disturbances, developmental delay, seizures, ataxia and sensorineural deafness. Most patients require regular blood transfusion, iron chelation, and intravenous immunoglobulin replacement. Stem cell transplantation has been reported to be successful. Caused by homozygous or compound heterozygous mutation in the TRNT1 gene on chromosome 3p26.|SNOMEDCT_US|N|
C4707404|Classical mycosis fungoides is the most common type of mycosis fungoides, a form of cutaneous T-cell lymphoma, and is characterized by slow progression from patches to more infiltrated plaques and eventually to tumors. The disease first manifests by skin lesions consisting of flat patches, preferentially located asymmetrically on the buttocks and other sun-protected areas (lower trunk and thighs, and the breasts in women). In the later stages of the disease, infiltrated plaques and red-violet, dome-shaped tumors or generalized erythroderma may develop. Lymph nodes are the most frequent site of extracutaneous involvement. Visceral involvement (liver, lung, and bone marrow) may also occur. The etiology remains unknown.|SNOMEDCT_US|N|
C4707428|A group of mitochondrial DNA maintenance syndrome diseases with characteristics of predominantly neuromuscular manifestations with typically infantile onset of hypotonia, lactic acidosis, psychomotor delay, progressive hyperkinetic-dystonic movement disorders, external ophthalmoplegia, sensorineural hearing loss, seizures and variable renal tubular dysfunction. It may be associated with a broad range of other clinical features.|SNOMEDCT_US|N|
C4707429|A neurological disorder with characteristics of moderate to severe developmental delay and intellectual disability and mild dysmorphic features. Early symptoms include hypotonia, delayed development of motor skills, speech delay, hypertelorism, broad nasal bridge, and fingers with tapered ends. Other features include microcephaly, seizures, recurrent ear infections, strabismus, amblyopia and hyperopia. Behavioral problems such as hyperactivity, attention deficit disorder, aggression, anxiety and autism spectrum occur in some cases. Caused by mutations in the HIVEP2 gene leading to a shortage of functional HIVEP2 protein. Inherited in an autosomal dominant pattern however most cases of this condition result from de novo mutations in the gene.|SNOMEDCT_US|N|
C4707448|A rare chromosomal anomaly syndrome with highly variable phenotype. Principal characteristics are intrauterine growth retardation, failure to thrive, developmental delay, hypotonia, mild dysmorphic features (including microcephaly, short forehead, upslanting palpebral fissures, hypertelorism, epicanthal folds, wide nasal bridge, broad nasal tip, long philtrum, thin upper lip, micrognathia, short neck), skeletal anomalies (for example kyphosis, brachydactyly, clinodactyly, talipes equinovarus) and dermatological features (including cafe-au-lait spots). Patients may also present ventriculoseptal defects and genital abnormalities (for example genital hypoplasia, phimosis, cryptorchidism).|SNOMEDCT_US|N|
C4707449|A rare chromosomal anomaly syndrome with a highly variable phenotype. Principle characteristics are pre and postnatal growth retardation, short stature, developmental delay, mild to severe intellectual disability, microcephaly and mild dysmorphic features (including triangular face, dysplastic ears, upslanting palpebral fissures, epicanthic folds, broad nasal bridge, full nasal tip, long philtrum, downturned corners of the mouth, and micro/retrognathia). Additional manifestations reported include hypotonia, mild articular limitation, hearing loss, digital anomalies (clinodactyly, brachydactyly), cafe au lait patches and hypospadias.|SNOMEDCT_US|N|
C4707450|A rare chromosomal anomaly syndrome with a highly variable phenotype. Principle characteristics are a neonatal mewing cry, severe developmental delay and intellectual disability, short stature, hypotonia, dysmorphic features (including microcephaly, facial asymmetry, hypertelorism, epicanthal folds, abnormal ears, micro/retrognathia), congenital cardiac anomalies (such as atrial and ventricular septal defect, tricuspid insufficiency, hypoplastic aorta) and skeletal abnormalities (for example hypoplastic thumbs, anomalous ulna/radius, dysplastic metacarpals and phalanges).|SNOMEDCT_US|N|
C4707554|A rare subtype of mixed epithelial-mesenchymal tumor, often presenting as a large, exophytic polypoid lesion, which may extend through the cervix, composed of benign or atypical epithelium and low-grade malignant stroma. It usually presents with dysfunctional bleeding or vaginal discharge and less often abdominal pain. Association with long-term unopposed estrogen therapy, tamoxifen therapy and a history of pelvic radiation has been reported.|ORPHANET|N|
C4707555|A rare epithelial carcinoma arising either in the gallbladder itself or from the epithelium lining the extrahepatic biliary tree, cystic duct and/or peribiliary gland. The disease has characteristics of nonspecific symptoms, such as abdominal pain, jaundice and vomiting and sometimes mimicking benign biliary diseases. Chronic biliary epithelial inflammation (for example primary sclerosing cholangitis, cholelithiasis, choledocholithiasis, liver fluke infestation) is a major risk factor.|SNOMEDCT_US|N|
C4707560|A rare acquired aplastic anaemia characterised by a severe normocytic anaemia with normal peripheral leukocyte and platelet counts, reticulocytopenia, high serum ferritin and transferrin saturation levels and isolated, almost complete absence of erythroblasts in the bone marrow with normal granulopoiesis and megakaryopoiesis. It presents with signs of severe anaemia (fatigue, lethargy, pallor, intolerance of physical exercise and exertional dyspnoea) in the absence of haemorrhagic symptoms.|SNOMEDCT_US|N|
C4707561|A rare congenital vascular anomaly syndrome characterized by venous or on occasion arterial malformations that lead to soft tissue hypertrophy and bone hypoplasia. An affected limb is generally shortened, highly deformed, painful and edematous with associated bone and muscle hypotrophy. Single parts or multiple small parts of limbs are typically affected but more extensive involvement including complete extremity shoulder girdle and axilla have been reported.|SNOMEDCT_US|N|
C4707562|A rare neurologic disorder with characteristics of a unique non-REM and REM parasomnia with sleep breathing dysfunction, gait instability and repetitive episodes of respiratory insufficiency, as well as autoantibodies against IgLON5. Patients may present stridor, chorea, limb ataxia, abnormal ocular movements, and bulbar symptoms (such as dysphagia, dysarthria, episodic central hypoventilation) with normal brain MRI. Excessive day sleepiness and cognitive deterioration have also been reported.|SNOMEDCT_US|N|
C4707564|A rare infantile epilepsy syndrome with characteristics of benign afebrile seizures in previously healthy infants and children (age range 1 month to 6 years) with mild acute gastroenteritis without any central nervous system infection, severe dehydration, or electrolyte imbalances. In most cases the seizures are tonic-clonic with focal origin on EEG, occur between day 1 and 6 following onset of acute gastroenteritis, cease within 24 hours and do not persist after the illness.|SNOMEDCT_US|N|
C4707565|Polymicrogyria that affects all or some of both cerebral hemispheres.|HPO|N|
C4707567|A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of developmental delay, intellectual disability, thin habitus with narrow shoulders, mesomelic shortness of the arms, craniofacial dysmorphism (for example long lower face, maxillary hypoplasia, beak nose, short columella, prognathia, high arched palate, obtuse mandibular angle), brachydactyly (mostly involving middle phalanges) and cardiovascular anomalies (such as aortic root dilatation, mitral valve prolapse).|SNOMEDCT_US|N|
C4707656|Rare congenital anomaly of the great veins with characteristics of absence of the left brachiocephalic vein (or innominate vein), resulting in an anomalous venous vasculature. Patients are usually asymptomatic and the anomaly is typically discovered intraoperatively. An association with persistence of left superior vena cava, permanent levoatrial cardinal vein or anomaly of the inferior vena cava has been reported in some cases.|SNOMEDCT_US|N|
C4707658|Rare childhood-onset epilepsy syndrome associated with infection and a biphasic clinical course. The initial symptom is a prolonged febrile seizure on day 1 (the first phase). Afterwards, patients have variable levels of consciousness from normal to coma. Irrespective of the consciousness levels, magnetic resonance imaging (MRI) during the first 2 days shows no abnormality. During the second phase (usually days 4 - 6), patients show a cluster of seizures and deterioration of consciousness. Diffusion-weighted images (DWI) on MRI reveal the brain lesions with reduced diffusion predominantly in the subcortical white matter. After the second acute phase, consciousness levels improve with the emerging focal neurological signs. Neurological outcomes vary from normal to mild or severe sequelae including cerebral atrophy, intellectual disability, paralysis and epilepsy.|SNOMEDCT_US|N|
C4707659|A subgroup of therapy-related myeloid neoplasms (t-MN), associated with treatment of an unrelated neoplastic disease with cytotoxic agents, like etoposide, doxorubicin, daunorubicin and others. The neoplastic cells often show rearrangements involving the mixed lineage leukaemia gene at 11q23. This subgroup of t-MN is typically associated with overt leukaemia, without preceding myelodysplastic syndrome, developing 2-3 years after exposure, presenting with non-specific symptoms related to ineffective haematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement.|SNOMEDCT_US|N|
C4707660|A subgroup of therapy-related myeloid neoplasms (t-MN), associated with treatment of an unrelated neoplastic disease with radiation. The neoplastic cells typically harbor unbalanced aberrations of chromosomes 5 and 7 (monosomy 5/del(5q) and monosomy 7/del(7q)) or a complex karyotype. Patients frequently present with multilineage dysplasia and cytopenias 5-10 years after exposure.|SNOMEDCT_US|N|
C4707661|A rare variant of Guillain-Barre syndrome characterized by acute onset monophasic sensory neuropathy with diminished or absent tendon reflexes, loss of proprioception, positive Romberg sign and nerve conduction features of demyelination. It presents several weeks after acute infection with paresthesia, ataxia and neuropathic pain.|SNOMEDCT_US|N|
C4707662|A rare chromosomal anomaly syndrome characterized by pre and postnatal growth restriction, developmental delay, variable degrees of intellectual disability, hand and foot anomalies (for example brachy/clinodactyly, talipes equinovarus, nail hypoplasia, proximally placed digits) and mild craniofacial dysmorphism (including microcephaly, triangular face, broad nasal bridge, micrognathia). Neonatal lymphedema, heart malformations, aplasia cutis congenita, aortic root dilatation and autistic spectrum disorder have also been reported.|SNOMEDCT_US|N|
C4707663|A rare chromosomal anomaly syndrome with a variable phenotype. Principally characteristics are intellectual disability, developmental delay, short stature, craniofacial dysmorphism (including microcephaly, low posterior hairline, frontal bossing, bitemporal narrowing, low-set and malformed ears, flat nasal bridge, long philtrum, wide mouth with downturned corners, thin upper lip) and a short, webbed neck, as well as skeletal anomalies (e.g. brachy rhizomelia, poly/syndactyly) and joint hyperlaxity. Cardiac, cerebral, and urogenital anomalies are also frequently associated.|SNOMEDCT_US|N|
C4707664|A rare chromosomal anomaly syndrome with characteristics of low birth weight, developmental delay, intellectual disability, short stature, craniofacial dysmorphism (including microcephaly, midface hypoplasia, hypertelorism, flat nasal bridge, ear anomalies, short philtrum, downturned corners of the mouth, micrognathia) and a short neck with redundant skin folds. Additional features may include hypotonia, skeletal anomalies (for example clino/camptodactyly), seizures and congenital cardiac, urogenital and gastrointestinal malformations.|SNOMEDCT_US|N|
C4707665|A rare chromosomal anomaly syndrome resulting from the partial duplication of the short arm of chromosome 1. The disease has characteristics of borderline to mild intellectual disability, mild developmental delay, metopic craniosynostosis and mild craniofacial dysmorphism (including sloping forehead, bitemporal narrowing, blepharophimosis). Other associated abnormalities may include growth retardation, microcephaly, large hands, syndactyly, supernumerary ribs, rectal stenosis and/or anterior displacement of anus. Congenital heart malformations (for example atrial septal defect, patent ductus arteriosus) have also been reported.|SNOMEDCT_US|N|
C4707718|Maternal uniparental disomy of chromosome 2 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier.|SNOMEDCT_US|N|
C4707719|Maternal uniparental disomy of chromosome 4 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier.|SNOMEDCT_US|N|
C4707720|Maternal uniparental disomy of chromosome 6 is a uniparental disomy of maternal origin with manifestation of intrauterine growth retardation. Homozygosity for a recessive disease mutation for which only a mother is a carrier may lead to other phenotypes.|SNOMEDCT_US|N|
C4707721|Maternal uniparental disomy of chromosome 9 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier.|SNOMEDCT_US|N|
C4707723|A rare variant of multiple sclerosis with characteristics of a rapidly progressive, aggressive form of multiple sclerosis with numerous large multifocal demyelinating lesions in deep white matter on cerebral MRI that usually leads to severe disability or death within weeks to months without remission. A relapsing form of multiple sclerosis is observed in surviving patients.|SNOMEDCT_US|N|
C4707724|Primitive neuroectodermal tumor of the corpus uteri is a rare cancer of corpus uteri derived from neural crest cells, characterized by small, round neoplastic cells with variable degree of neural, glial and ependymal differentiation. Macroscopically, the tumor is often a large, poorly circumscribed polypoid mass with necrotic areas and hemorrhage. It usually presents with lower abdominal or pelvic pain, irregular vaginal bleeding or discharge, pelvic mass and uterine enlargement.|ORDO|N|
C4707725|Primitive neuroectodermal tumor of the cervix uteri is a rare cancer of cervix uteri derived from neural crest cells, histologically composed of small, round neoplatic cells with variable degree of neural, glial and ependymal differentiation. Macroscopically, the tumor is often a large, soft, poorly circumscribed mass with infiltrative borders and necrotic areas. It presents with dysfuntional vaginal bleeding or discharge, lower abdominal pain and uterine enlargement.|ORDO|N|
C4707726|An extremely rare anorectal malformation syndrome with characteristics of imperforate anus, closed ano-perineal fistula, preauricular skin tag and absent renal abnormalities and pre-axial limb deformities. There have been no further descriptions in the literature since 1983.|SNOMEDCT_US|N|
C4707728|A rare juvenile idiopathic inflammatory myopathy characterised by the association of inflammatory myositis (manifesting with acral erythema, progressive weakness of the limbs, pain, general fatigue, moodiness or crankiness) with clinical and/or laboratory features of other autoimmune diseases (for example systemic lupus erythematosus, localised scleroderma, diabetes). Cardiac involvement has been reported in some patients.|SNOMEDCT_US|N|
C4707790|A rare auto inflammatory syndrome defined as recurrence of pericardial inflammation of unknown origin following the first episode of acute pericarditis and a symptom-free interval of 4-6 weeks or longer. Recurrent attacks of chest pain may be the sole presentation or chest pain may be accompanied by pericardial friction rub, electrocardiographic or echocardiographic changes, pericardial effusion and increased C-reactive protein. Cardiac tamponade is a rare life-threatening complication.|SNOMEDCT_US|N|
C4707791|A rare inflammatory myopathy characterised by diffuse destructive infiltration of CD68 positive macrophages into the fascia rather than muscle fibres in muscle biopsies, proximal muscle weakness and myalgia with or without scaly dermatomyositis-like or atypical non-dermatomyositis-like skin lesions, elevation of creatine kinase levels and thickening of muscle fascia in muscle MRI.|SNOMEDCT_US|N|
C4707792|A rare cancer-predisposing syndrome associated with the D1 subgroup of Fanconi anaemia characterised by progressive bone marrow failure, cardiac, brain, intestinal or skeletal abnormalities and predisposition to various malignancies. Bone marrow suppression and the incidence of developmental abnormalities are less frequent than in other Fanconi anaemia, but cancer risk is very high with the spectrum of childhood cancers including Wilms tumour, brain tumour (often medulloblastoma) and acute lymphoblastic leukaemia /acute myeloid leukaemia.|SNOMEDCT_US|N|
C4707793|Isochromosomy Yp is a rare gonosome anomaly characterised by various clinical presentations including normal healthy fertile males, male phenotype with infertility, and males with ambiguous genitalia or incomplete masculinisation.|SNOMEDCT_US|N|
C4707794|A rare non-syndromic cerebellar malformation characterized by an underdeveloped cerebellar vermis. Patients may present a variable phenotype ranging from normal neurodevelopment to motor and/or language delay, variable degrees of cognitive impairment, hypotonia, equilibrium disturbances, static/dynamic ataxia, oculomotor abnormalities, epilepsy and/or clumsiness. Behavioral disorders such as attention deficit hyperactivity disorder and generalized anxiety have also been reported. Brain MRI may reveal diffuse or selective (mostly posterior) vermian cerebellar hypoplasia and EEG may show focal paroxysms.|SNOMEDCT_US|N|
C4707795|A rare genetic non-syndromic cerebral malformation due to abnormal neuronal migration disorder characterised by variable-sized, focalised malformations located in any part(s) of the cerebral cortex, which manifests with drug-resistant epilepsy (usually leading to intellectual disability) and behavioural disturbances. Abnormal MRI findings (for example abnormal white and/or grey matter signal, blurred grey-white matter junction, localised volume loss, cortical thickening, abnormal gyral pattern, abnormal hippocampus) and variable histopathologic patterns are associated.|SNOMEDCT_US|N|
C4707796|A rare rheumatologic disease characterised by predominantly bilateral, chronic, sterile inflammation and progressive sclerosis and hyperostosis of the sternocostoclavicular joint, with adjacent soft tissue ossification, in the absence of other joint involvement. It presents as recurrent episodes of pain, oedema and/or erythema of the sternoclavicular region. Palmoplantar pustulosis may be additionally observed in some cases.|SNOMEDCT_US|N|
C4707797|A rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 13. Principle characteristics are global developmental delay, mild intellectual disability, obesity and mild craniofacial dysmorphism (microcephaly, wide rectangular forehead, downslanting palpebral fissures, mild ptosis, prominent nose with long nasal bridge and broad tip, small chin). Other variable reported features include congenital heart defects, hand and foot anomalies (for example polydactyly) and agenesis of the corpus callosum.|SNOMEDCT_US|N|
C4707798|A rare primary bone dysplasia disorder with characteristics of normal or mild short stature, early-onset pain and/or stiffness of the joints (mainly affecting knees but also elbows, wrists, ankles and fingers, with relative sparing of the hips) and early degenerative joint disease. Other skeletal anomalies (including varus or valgus deformities, osteochondritis dissecans, abnormal carpal shape, free articular bodies) and mild myopathy have also been reported.|SNOMEDCT_US|N|
C4707800|Paternal uniparental disomy of chromosome 1 is a uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only the father is a carrier.|SNOMEDCT_US|N|
C4707801|Paternal uniparental disomy of chromosome 21 is a uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only the father is a carrier.|SNOMEDCT_US|N|
C4707802|Paternal uniparental disomy of chromosome 7 is an uniparental disomy of paternal origin that most likely do not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier (for example cystic fibrosis, congenital chloride diarrhea, sensorineural hearing loss).|SNOMEDCT_US|N|
C4707803|A rare variant of Guillain-Barre syndrome with characteristics of isolated leg weakness, areflexia and radicular leg pain that may simulate a cauda equina or spinal cord syndrome. The arms, ocular, facial, and oropharyngeal muscles are spared and sphincteric function is normal.|SNOMEDCT_US|N|
C4707820|A rare cardiovascular morphological anomaly due to maldevelopment of embryonal aorta resulting in right aortic arch and left ligamentum arteriosum characterized by tracheoesophageal compression symptoms (stridor, dyspnea, dysphagia, apneic episodes, recurrent respiratory infections).|SNOMEDCT_US|N|
C4707821|A rare congenital anomaly of the great veins with characteristics of an anomalous course of the left brachiocephalic vein, passing from left to right below the aortic arch and entering the superior vena cava below the orifice of the azygos vein. Patients are frequently asymptomatic and diagnosed incidentally on imaging studies. Other cardiac malformations may be associated.|SNOMEDCT_US|N|
C4707822|Undifferentiated carcinoma of the corpus uteri is a rare cancer of corpus uteri presenting as a large, polypoid, intraluminal mass with necrosis, composed of small to intermediate-size, relatively uniform, dyshesive cells displaying no differentiation. It usually presents with dysfunctional bleeding or vaginal discharge and, less often, abdominal pain. Association with Lynch syndrome was reported.|ORDO|N|
C4707823|A rare vulvovaginal neoplasm, a highly malignant soft tissue sarcoma composed of cells with round to oval or spindle-shaped nuclei and eosinophilic cytoplasm that may show differentiation towards striated muscle cells. It usually affects children and presents with a vulvar or vaginal mass that may be polypoid or grape-like (embryonal subtype) and associated with bleeding and ulceration.|SNOMEDCT_US|N|
C4707824|A rare chromosome X structural anomaly with a highly variable phenotype. Principle characteristics are developmental delay, intellectual disability, short stature, craniofacial dysmorphism (including microcephaly, facial asymmetry, hypertelorism, long palpebral fissures, epicanthus, low-set or malrotated ears, broad nose with a flat nasal bridge, anteverted nares, long philtrum, thin upper lip, high arched palate, micrognathia) and skeletal anomalies (for example cubitus valgus, talipes equinovarus). Patients may also present heart malformations (for example ventricular septal defects, mitral valve stenosis), sacral dimple, soft tissue syndactyly, pigmented naevi and seizures.|SNOMEDCT_US|N|
C4707825|A rare genetic developmental defect during embryogenesis syndrome with characteristics of the association of complete, partial or submucous cleft palate and ankyloglossia. Patients may also present abnormal uvula (for example absent, bifid, shortened or laterally deviated), short lingual frenulum and dental anomalies (for example buccal crossbite, absent and/or misshapen teeth). Digital abnormalities, such as mild clinodactyly and/or syndactyly, have also been reported.|SNOMEDCT_US|N|
C4707828|A rare chromosomal anomaly syndrome resulting from the partial deletion of the short arm of chromosome 1. The disorder has characteristics of developmental delay, corpus callosum agenesis/hypoplasia and craniofacial dysmorphism, such as macrocephaly (caused by hydrocephalus or ventriculomegaly), low-set ears, anteverted nostrils and micrognathia. Urinary tract defects (for example vesicoureteral reflux, urinary incontinence) are also frequently associated. Other reported variable manifestations include hypotonia, tethered spinal cord, Chiari type I malformation and seizures.|SNOMEDCT_US|N|
C4707829|An extremely rare complex hereditary spastic paraplegia with characteristics of infancy or childhood onset of global developmental delay and progressive spasticity with tremor in the distal limbs, increased deep tendon reflexes and extensor plantar responses, which may be associated with mild intellectual disability. Additional features include muscle wasting and cerebellar abnormalities.|SNOMEDCT_US|N|
C4707844|An extremely rare syndromic hair shaft anomaly with characteristics of sparse, coarse, brittle, excessively dry and slow-growing scalp hair, sparse axillary and pubic hair, sparse or absent eyelashes and eyebrows and dry skin. Hair shaft analysis shows pili torti, longitudinal splitting, grooves, peeling and scaling. There have been no further descriptions in the literature since 1987.|SNOMEDCT_US|N|
C4707845|A rare hereditary ataxia with characteristics of progressive cerebellar ataxia associated with disruption of visual fixation by saccadic intrusions. It presents with progressive gait, trunk and limb ataxia with pyramidal tract signs (increased tendon reflexes and Babinski sign), myoclonic jerks, fasciculations, cerebellar dysarthria, sensorimotor axonal neuropathy with impaired joint position, vibration, temperature, pain sensations, pes cavus, and saccadic intrusions with characteristic overshooting horizontal saccades, macrosaccadic oscillations, and increased velocity of larger saccades, without other eye movement disturbances.|SNOMEDCT_US|N|
C4707846|A rare epilepsy syndrome characterised by absence seizures with perioral myoclonia as the main seizure type, accompanied by generalised tonic-clonic seizures, appearing before or together with absences. Consciousness is usually impaired, although to variable degree. Commonly observed absence status epilepticus, poor response to antiepileptic drugs and persistence of seizures into adulthood, in the presence of normal neurological status and intelligence, are additional clinical features of this syndrome.|SNOMEDCT_US|N|
C4707847|A rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 2, primarily characterised by global developmental delay, hypotonia, autistic-like features and behavioural problems. Craniofacial dysmorphism (arched eyebrows, hypertelorism, bilateral ptosis, prominent nose, wide mouth, micro/retrognathia) and an affable personality are also commonly associated. Minor digital anomalies (fifth finger clinodactyly and large, broad first toe) have occasionally been reported.|SNOMEDCT_US|N|
C4707848|A rare genetic endocrine growth disease resulting from growth hormone secretagogue receptor (GHSR) deficiency. The disease has characteristics of postnatal growth delay that results in short stature. The pituitary gland is typically without morphological changes, although anterior pituitary gland hypoplasia has been reported.|SNOMEDCT_US|N|
C4707850|A rare genetic primary bent bone dysplasia characterized by significant, uni/bilateral, lateral tibial bowing localized to the distal two-thirds of the tibia, with respective cortical thickening and thinning of the inner and outer tibial curve, loss of normal trabecular bone, bilateral abnormalities of the tibial epiphyses and growth plates, as well as foot abnormalities, including abnormally high arches. Affected individuals have short stature with absence of other skeletal abnormalities.|SNOMEDCT_US|N|
C4707851|A rare genetic primary bone dysplasia disorder with characteristics of disproportionate short stature with shortening of upper and lower limbs, short and broad fingers with short hands, narrowed chest with rib abnormalities and pectus excavatum, abnormal chondral calcifications (including larynx, trachea and costal cartilages) and facial dysmorphism (frontal bossing, hypertelorism, prominent eyes, short flat nose, wide nostrils, high-arched palate, long philtrum). Platyspondyly (especially of cervical spine) and abnormal epiphyses and metaphyses are observed on radiography. Atlantoaxial instability causing spinal compression and recurrent respiratory disease are potential complications that may be lethal.|SNOMEDCT_US|N|
C4707852|An angiographic finding characterized by delayed progression of contrast medium into distal epicardial vessels in the absence of significant coronary artery disease.|NCI|N|
C4707857|A rare multiple congenital anomalies/dysmorphic syndrome with characteristics of developmental delay, intellectual disability, short stature, sensorineural hearing impairment, facial dysmorphism (including epicanthus, broad, depressed nasal bridge, broad, fleshy nasal tip, mildly anteverted nares, deep nasolabial folds, broad mouth with thin upper lip) and skeletal anomalies (including abnormally placed thumbs, brachydactyly, scoliosis, dysplastic carpal bones). Severe behaviour disturbances (aggression, hyperactivity), as well as hypopigmented skin lesions and hypoplastic digital patterns are also associated. There have been no further descriptions in the literature since 1992.|SNOMEDCT_US|N|
C4707858|A rare genetic non-syndromic cerebral malformation with characteristics of severe intellectual disability, progressive postnatal microcephaly, axial hypotonia, spastic quadriparesis, seizures and facial dysmorphism (bushy eyebrows, hairy forehead, broad nasal root, long flat philtrum, V-shaped upper lip). Additionally, talipes equinovarus, non-obstructive cardiomyopathy, persistent hyperplastic primary vitreous, obstructive hydrocephalus and autistic features may also be associated. On brain magnetic resonance imaging, the ''butterfly sign'' is characteristically observed and cortical calcifications, agenesis of the corpus callosum, ventriculomegaly, brainstem dysplasia and cerebellar vermis hypoplasia have also been described.|SNOMEDCT_US|N|
C4707859|A rare parkinsonian syndrome due to intoxication which develops in individuals surviving an acute cyanide intoxication episode or due to chronic exposure to small cyanide doses. It presents several weeks after acute exposure with progressive typical clinical features of parkinsonism including bradykinesia, rigidity, dystonia, hypomimia, hypokinetic dysarthria, postural instability and retropulsion but no resting or postural tremor. Brain MRI reveals bilateral lesions in the pallidum, posterior putamen, substantia nigra, subthalamic nucleus, temporal and occipital cortex and cerebellum.|SNOMEDCT_US|N|
C4707860|A rare genetic primary bone dysplasia disorder with characteristics of early-onset severe lumbar kyphosis, marked brachydactyly and irregular, pronounced cone epiphyses of the metacarpals and phalanges. Additional reported features include developmental delay, intellectual disability, hypotonia, epileptic seizures and mild facial dysmorphism (including long and thin or square-shaped face, slight mid-face hypoplasia, hypertelorism, epicanthic folds, low-set ears, anteverted nostrils). Radiographic findings also reveal hypoplasia of iliac wings and anterior defect of vertebral bodies.|SNOMEDCT_US|N|
C4707865|A rare familial dilated cardiomyopathy with characteristics of left ventricular enlargement and/or reduced systolic function preceded or accompanied by significant conduction system disease and/or arrhythmias including bradyarrhythmias, supraventricular or ventricular arrhythmias. Disease onset is usually in early to mid-adulthood. Sudden cardiac death may occur and may be the presenting symptom. In some cases, it is associated with skeletal myopathy and elevated serum creatine kinase.|SNOMEDCT_US|N|
C4707878|A rare breast malformation with characteristics of the presence, in various members of a single family, of one or more nipple(s) and/or their related tissue, in addition to the normal bilateral chest nipples. The anomaly is usually situated along the embryonic milk line, from axillae to inguinal regions, but other locations are also possible. Association with dental abnormalities, Becker naevus, renal or underlying breast tissue malignancy and genitourinary malformations has been reported.|SNOMEDCT_US|N|
C4707880|A rare biological anomaly defined as high serum ferritin levels without elevations of transferrin saturation, tissue or serum iron and with characteristics of an apparently asymptomatic clinical phenotype.|SNOMEDCT_US|N|
C4707881|Glassy cell carcinoma of the cervix uteri is a rare cancer of the uterine cervix, composed of nests of large neoplastic cells with ''ground glass'' cytoplasm, surrounded by a stroma with prominent eosinophilic infiltrates. It is a poorly differentiated, aggressive variant of adenosquamous carcinoma that usually affects young women and presents with dysfunctional vaginal bleeding and lower abdominal pain. Distant metastases to the lungs, liver spleen or bones are often present at the time of diagnosis. It is often associated with high-risk HPV-infection (types 18, 16 and 32).|ORPHANET|N|
C4707882|A rare genetic limb malformation syndrome with characteristics of multiple congenital distal joint contractures (including talipes equinovarus and both proximal and distal interphalangeal joint contractures of the hands) and very severe motor paralysis at birth (such as lack of swallowing, autonomous respiratory function and deep tendon reflexes), leading to death within first 3 months of life. Fetal hypo or akinesia, late-onset polyhydramnios and dramatically reduced, or absent, motor nerve conduction velocities are frequently associated. Nerve ultrastructural morphology shows severe abnormalities of the nodes of Ranvier and myelinated axons.|SNOMEDCT_US|N|
C4707883|A rare cerebral malformation with epilepsy syndrome characterized by early-onset gelastic (ictal laughter) or dacrystic (ictal crying) seizures due to non-neoplastic developmental malformation - hypothalamic hamartomas. In many patients, seizures progress to other seizure types including focal and generalized seizures, with concomitant cognitive decline and behavioral disorders. Some patients also present a precocious puberty.|SNOMEDCT_US|N|
C4707884|A rare inflammatory eye disease of unknown aetiology characterised by generalised inflammation of the uvea (iris, ciliary body, choroid), retina and vitreous with consequent ciliary spasm and posterior synechiae formation, leading to acute or chronic, unilateral or bilateral visual impairment and ocular discomfort or pain. Patients present an increased risk of development of cataracts, secondary glaucoma, cystoid macular oedema and/or retinal detachment. It could potentially result in vision loss.|SNOMEDCT_US|N|
C4707885|A rare non-syndromic cerebellar malformation with characteristics of loss of volume in the right or left cerebellar hemisphere, with intact vermis and no other neurological anomalies (normal cerebral hemispheres, fourth ventricle, pons, medulla and midbrain). Patients may be asymptomatic or may present developmental and speech delay, hypotonia, abnormal ocular movements, persistent headaches and/or peripheral vertigo and ataxia. Neurological examination is otherwise normal.|SNOMEDCT_US|N|
C4707886|A rare genetic hypertension with characteristics of a familial severe hypertension with an onset before age 20 years, associated with suppressed plasma renin and low aldosterone levels in the presence of low or normal levels of the mineralocorticoid aldosterone, that is highly resistant to antihypertensive medication. During pregnancy, there is a marked exacerbation of hypertension, accompanied by low serum potassium levels and undetectable aldosterone levels, but without signs of preeclampsia, requiring early delivery.|SNOMEDCT_US|N|
C4707896|A rare congenital heart malformation with characteristics of tetralogy of Fallot (pulmonary stenosis, overriding aorta, ventricular septal defect and right ventricular hypertrophy), complete absence or rudimentary pulmonary valve that is both stenotic and regurgitant and an absence of the ductus arteriosus. It presents prenatally with cardiomegaly, polyhydramnios, fetal heart failure, hydrops fetalis and fetal demise or postnatally with cyanosis and respiratory failure due to bronchomalacia secondary to bronchial compression from dilated pulmonary arteries. It is frequently associated with 22q11 deletion.|SNOMEDCT_US|N|
C4707897|A rare axonal hereditary motor and sensory neuropathy with early onset (less than 10 years) progressive distal muscle weakness and wasting of the lower limbs and later, to a lesser extent the upper limbs resulting in foot and wrist drop, areflexia, skeletal deformities (kyphoscoliosis, pes cavus with flattening, joint contractures), mild sensory impairment with vibration sense reduced to a greater extent than pain, optic atrophy and hearing loss. Wheelchair dependence by adolescence is usual and respiratory impairment with diaphragmatic paralysis may develop.|SNOMEDCT_US|N|
C4707898|A rare hepatic and biliary tract tumor, arising either in the gallbladder itself or in the epithelium lining the extrahepatic biliary tree, the cystic duct and peribiliary glands. It is characterized by a substantial keratinization with abundant keratohyalin pearls and central deposition of dense keratin material within infiltrative nests and locally aggressive nature. In the early stages of the disease symptoms are vague and nonspecific (abdominal pain, jaundice and vomiting). In the advanced stages it may present with a bulky tumor and symptoms of adjacent organ involvement.|ORDO|N|
C4707899|Squamous cell carcinoma of the small intestine is an extremely rare, malignant, epithelial tumor of the small intestine (most often localized in the duodenum). Presenting symptoms are often nonspecific, such as weight loss, epigastric pain, anorexia, weakness, fatigue, vomiting and abdominal distension, and vary depending on localization of the tumor. Gastrointestinal bleeding and perforation may occur in advanced cases.|ORPHANET|N|
C4707940|A rare genetic immunodeficiency due to a complement cascade protein anomaly characterised by low or undetectable serum ficolin 3 levels, susceptibility to infections and possibly autoimmunity. The presentation is variable, from perinatal necrotising enterocolitis and recurrent skin infections with Staphylococcus aureus to childhood-onset recurrent pulmonary infections leading to brain abscesses and pulmonary fibrosis, to membranous nephropathy. In some patients clinical consequences of ficolin 3 deficiency were not clear. There is evidence that ficolin 3 deficiency is caused by homozygous mutation in the FCN3 gene on chromosome 1p36.|SNOMEDCT_US|N|
C4708103|Type 2 is much more severe than Type I, cyanosis is accompanied by neurological dysfunction with intellectual deficit, microcephaly, growth retardation, opisthotonus, strabismus and hypertonia, which usually becomes evident during the first four months of life. Caused by global loss of Cb5R function.|SNOMEDCT_US|N|
C4708104|In type 1 cyanosis from birth is the only symptom, it is well tolerated and is associated with mild complaints of headaches, fatigue and shortness of breath upon exertion. Caused by mutations of the CYB5R3 gene (22q13.31-qter) encoding the NADH-cytochrome b5 reductase (Cb5R) and Cb5R deficiency is limited to the erythrocytes.|SNOMEDCT_US|N|
C4708452|Describes a posterior tooth relationship bilaterally where the posterior teeth are in crossbite on both the right and left side.|SNOMEDCT_US|N|
C4708454|A deep overbite resulting in the mandibular teeth impinging on and stripping the oral mucosa from the lingual of the maxillary teeth.|SNOMEDCT_US|N|
C4708496|Lip incompetence due to horizontal overbiteCHAR(13)|HL7V3.0|N|
C4708497|A microdeletion occurring on the short (p) arm of chromosome 16 at a location designated p12.2. Common characteristics of this disease include developmental delay, delayed speech, intellectual disability, hypotonia, short stature, microcephaly, cardiac malformations, recurrent epilepsy, psychiatric and behavioural problems. Manifestations vary even among affected members of the same family. Inherited in an autosomal dominant pattern with incomplete penetrance, in almost all known cases the chromosomal change has been inherited from a parent|SNOMEDCT_US|N|
C4708498|Syndrome with manifestations of intellectual disability and delayed development of speech and motor skills with expressive language skills generally more severely affected. Individuals may be unable to speak, learn to walk later or may never walk. In infancy hypotonia and feeding difficulties may be present along with dysphagia, hypersomnolence, hypothermia and hypoventilation. Recurrent seizures are common. Caused by mutations in the PURA gene, which provides instructions for the protein Pur-alpha. This protein has multiple roles in cells, including gene transcription and replication of DNA. The disease is inherited in an autosomal dominant pattern, however most cases result from de novo mutation.|SNOMEDCT_US|N|
C4708509|An inherited disorder characterised by hypermanganesemia. Manganese accumulates in the region of the brain responsible for the coordination of movement causing dystonia and other uncontrolled movements. Two types of hypermanganesemia with dystonia have been identified; hypermanganesemia with dystonia, polycythaemia, and cirrhosis (HMDPC) and hypermanganesemia with dystonia 2 and they are distinguished by genetic cause and features. Inherited in an autosomal recessive pattern.|SNOMEDCT_US|N|
C4708510|Syndrome with characteristics of infancy onset hypotonia, feeding difficulties, breathing problems, dysphagia, severely delayed development of speech and motor skills, distinctive facial features, recurrent seizures and seizure-like episodes (muscle jerking, twitching, and stiffening). Brain abnormalities may also be present several of which are caused by reduced production of myelin or delayed maturation of myelin. Caused by a microdeletion occurring on the long (q) arm of chromosome 5 at a position designated q31.3. The deleted region typically contains at least three genes. The loss of one of these genes, PURA, is thought to lead to most of the characteristic features of the condition. The condition is not inherited.|SNOMEDCT_US|N|
C4708512|An immunodeficiency disorder with onset in infancy that leads to recurrent, severe infections of the respiratory tract. Infections are most frequently caused by rhinovirus. Respiratory syncytial virus and the influenza virus may also cause recurrent infections. Infection may require hospital admission and repeated infection can lead to chronic lung disease. Infections usually become less frequent with maturity. Caused by mutations in the IFIH1 gene, which provides instructions for making the MDA5 protein. Deficiency of MDA5 protein activity reduces interferon production in response to RNA-containing viruses. The inheritance pattern is unclear. In some cases, the condition seems to follow an autosomal recessive pattern, in other cases it appears that the condition is inherited in an autosomal dominant pattern.|SNOMEDCT_US|N|
C4708543|A neurological disorder with characteristics of moderate to severe developmental delay and intellectual disability. Additional manifestations may include hypotonia, delayed development of motor skills, delayed speech development, recurrent seizures, autism spectrum disorder, macrocephaly and unusual facial features including frontal bossing, hypertelorism and downslanting palpebral fissures. Caused by mutations in the PPP2R5D gene, which provides instructions for making B56-delta resulting in the production of an altered B56 protein. Inherited in an autosomal dominant pattern however most cases of this condition result from de novo gene mutation.|SNOMEDCT_US|N|
C4708577|Posterior crossbite limited to right sideCHAR(13)|HL7V3.0|N|
C4708578|Posterior crossbite limited to left sideCHAR(13)|HL7V3.0|N|
C4708592|A single anterior tooth pair is in crossbite and is also impinging on the soft tissue, resulting in destruction of the oral mucosa adjacent to one or both teeth involved.|SNOMEDCT_US|N|
C4708593|Serous cystadenoma of childhood is a benign epithelial ovarian neoplasm with characteristics of a usually unilateral, cystic, unilocular or multilocular lesion with a thin wall or septa and no intracystic solid portion on imaging. It often presents with abdominal pain or an asymptomatic abdominal mass and can be associated with ovarian torsion or malignant transformation.|SNOMEDCT_US|N|
C4708594|Mucinous cystadenoma of childhood is a benign epithelial ovarian neoplasm with characteristics of a usually unilateral, cystic, unilocular or multilocular lesion with a thin wall or septa and no intracystic solid portion on imaging. It often presents with abdominal pain or an asymptomatic abdominal mass and can be associated with ovarian torsion or malignant transformation.|SNOMEDCT_US|N|
C4708595|A rare tumor of cranial and spinal nerves arising from peripheral nerve sheath and composed exclusively or predominantly of cells showing perineurial differentiation. It presents as a well-circumscribed, rarely encapsulated mass, not associated with a recognizable nerve, most commonly arising in the dermis and subcutis of the extremities or trunk, or, rarely, in deep soft tissue or skin (for example in the stomach, kidney, pancreas, maxillary sinus, mandible, bronchial tree and the face). The clinical presentation depends on the localization.|SNOMEDCT_US|N|
C4708596|A rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 1. The syndrome has a highly variable phenotype and principle characteristics of intellectual disability, short stature, craniofacial dysmorphism (including macro/microcephaly, prominent forehead, posteriorly rotated, low-set ears, abnormal palpebral fissures, microphthalmia, broad, flat nasal bridge, high-arched palate, micro/retrognathia), cardiac defects and urogenital anomalies. Patients may also present cerebral (for example ventriculomegaly) and gastrointestinal malformations, as well as dystonic tremor and recurrent respiratory tract infections.|SNOMEDCT_US|N|
C4708597|Chromosome 8p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 8. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 8p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person.|MONDO|N|
C4708599|Coloboma of choroid and retina is a rare, genetic developmental defect during embryogenesis characterized by the partial absence of retinal pigment epithelium and choroid, most frequently located in the inferonasal quadrant. Patients usually present reduced vision and have an increased risk for retinal detachment. Other ocular anomalies (e.g. coloboma of iris, microcornea, nystagmus, strabismus, microphthalmos) are usually associated, however it may also be isolated.|ORDO|N|
C4708600|A rare otorhinolaryngologic disease with characteristics of the unilateral or bilateral dehiscence of the bone(s) overlying the superior (most common), lateral or posterior semicircular canal(s). Patients present audiological (autophony, aural fullness, conductive hearing loss, pulsatile tinnitus) and/or vestibular symptoms (sound or pressure-evoked oscillopsia or vertigo, characteristic vertical-torsional eye movements), depending on which semicircular canal is affected. Posterior SCD syndrome is associated with high-riding jugular bulb and fibrous dysplasia, while lateral SCD syndrome is associated with chronic otitis media and cholesteatoma, with or without audiological and vestibular symptoms.|SNOMEDCT_US|N|
C4708601|An extremely rare, benign or malignant germ cell tumor characterized, clinically, by a teratoma presenting in an extragonadal location (for example retroperitoneum, mediastinum, craniofacial or sacrococcygeal region, intraosseous, solid organs) and histologically by displaying well-differentiated structures as well as immature elements. Presenting symptoms are variable depending on size and location of tumor.|SNOMEDCT_US|N|
C4708602|A genetic non-syndromic congenital malformation of the neurenteric canal, spinal cord and column characterised by progressive neurologic deterioration (pain, sensorimotor deficits, abnormal gait, decreased tone or abnormal reflexes), musculoskeletal changes (foot deformities and asymmetry, muscle atrophy, limb weakness and numbness, gait disturbances, scoliosis) and/or genitourinary manifestations (bladder and bowel dysfunction). Midline cutaneous stigmata in the lumbosacral region, such as turfs of hair, skin appendages, dimples, subcutaneous lipomas, skin discolouration or haemangiomas, are frequently associated.|SNOMEDCT_US|N|
C4708643|Benign condition with purple-coloured patches, plaques or nodules, usually found bilaterally on the extensor surfaces of the lower extremities and associated with chronic venous insufficiency and arteriovenous malformations. A reactive angiodysplasia of preexisting cutaneous blood vessels that resembles malignant conditions like Kaposi''s sarcoma and requires histopathological examination for its diagnosis and differentiation.|SNOMEDCT_US|N|
C4708644|Tooth requires a dental crown due to weakened and limited natural tooth remaining.|SNOMEDCT_US|N|
C4708653|A disorder of the nervous system white matter and myelin resulting in hypomyelination and in some cases also demyelination. There are different combinations of signs and symptoms of the disease, at the most severe end of the spectrum is hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC). At the mildest end is isolated hypomyelination. The features in other individuals with TUBB4A-related leukodystrophy fall in between these two extremes. The disease is caused by mutations in the TUBB4A gene, which provides instructions for making a protein called beta-tubulin. Inherited in an autosomal dominant pattern however most cases are the result of de novo mutations in the gene.|SNOMEDCT_US|N|
C4708680|Tooth requires a dental crown due to weakened and limited natural tooth remaining from previous large restoration.|SNOMEDCT_US|N|
C4708791|An imbalance between proinflammatory and anti-inflammatory responses to an infection.|SNOMEDCT_US|N|
C4708802|Lower anterior facial height is proportionally greater than normal when compared with upper anterior facial height.|SNOMEDCT_US|N|
C4708803|Lower anterior facial height is proportionally less than normal when compared with upper anterior facial height.|SNOMEDCT_US|N|
C4708804|Vertical bone deficiency in the posterior region of alveolar ridge, which is a contributing factor to the development of a short vertical dimension of the face.|SNOMEDCT_US|N|
C4708805|Vertical bone excess in the posterior region of the alveolar ridge, which is a contributing factor to the development of a long vertical dimension of the face. Over-eruption of posterior teeth is observed.|SNOMEDCT_US|N|
C4717145|The subjective, quantifiable prevalence, frequency, and severity of symptoms placing a physiologic burden on patients and producing multiple negative, physical, and emotional patient responses.|MSH|N|
C4718438|A clinical finding in which a capillary nail refill test returns to pink color in greater than two seconds after pressure is removed. (ACC-AHA)|NCI|N|
C4720862|Non-small cell carcinoma that has spread from its original site of growth to another anatomic site.|NCI|N|
C4721400|Heterophorias are latent deviations that are controlled by fusion. In certain circumstances (specific visual tasks, fatigue, illness, etc.), fusion can no longer be maintained and decompensation occurs.|HPO|N|
C4721404|Angioma serpiginosum (AS) is a rare benign congenital skin disorder characterized by nonpurpuric red punctate lesions seen histologically as capillary ectasias in the superficial papillary dermis. The lesions often follow Blaschko lines and are most commonly found in females (90%) (Blinkenberg et al., 2007).
See 106050 for additional phenotypic information and possible autosomal dominant inheritance or cutaneous somatic mosaicism (Chen et al., 2006; Blinkenberg et al., 2007).|OMIM|N|
C4721411|Osteolysis refers to the destruction of bone through bone resorption with removal or loss of calcium.|HPO|N|
C4721412|An insulin-producing neuroendocrine tumor arising from the beta cells of the pancreas. Patients exhibit symptoms related to hypoglycemia due to inappropriate secretion of insulin. It displays vascular invasion and metastasizes to other anatomic sites.|NCI|N|
C4721414|Mantle cell lymphoma is a rare form of malignant non-Hodgkin lymphoma (see this term) affecting B lymphocytes in the lymph nodes in a region called the ``mantle zone''.|ORDO|N|
C4721418|Indicates a person living apart from his/her spouse by legal arrangement.|NCI|N|
C4721425|The reemergence of uterine corpus cancer after a period of remission.|NCI|N|
C4721428|The reemergence of nasal cavity or paranasal sinus carcinoma after a period of remission.|NCI|N|
C4721429|Nonmedullary thyroid cancer (NMTC) comprises thyroid cancers of follicular cell origin and accounts for more than 95% of all thyroid cancer cases. The remaining cancers originate from parafollicular cells (medullary thyroid cancer, MTC; 155240). NMTC is classified into 4 groups: papillary, follicular (188470), Hurthle cell (607464), and anaplastic. Approximately 5% of NMTC is hereditary, occurring as a component of a familial cancer syndrome (e.g., familial adenomatous polyposis, 175100; Carney complex, 160980) or as a primary feature (familial NMTC or FNMTC). Papillary thyroid cancer (PTC) is the most common histologic subtype of FNMTC, accounting for approximately 85% of cases (summary by Vriens et al., 2009).
PTC is characterized by distinctive nuclear alterations including pseudoinclusions, grooves, and chromatin clearing. PTCs smaller than 1 cm are referred to as papillary microcarcinomas. These tumors have been identified in up to 35% of individuals at autopsy, suggesting that they may be extremely common although rarely clinically relevant. PTC can also be multifocal but is typically slow-growing with a tendency to spread to lymph nodes and usually has an excellent prognosis (summary by Bonora et al., 2010).
Genetic Heterogeneity of Susceptibility to Nonmedullary Thyroid Cancer
Other susceptibilities to nonmedullary thyroid cancer include NMTC2 (188470), caused by mutation in the SRGAP1 gene (606523); NMTC3 (606240), mapped to chromosome 2q21; NMTC4 (616534), caused by mutation in the FOXE1 gene (602617); and NMTC5 (616535), caused by mutation in the HABP2 gene (603924).
A susceptibility locus for familial nonmedullary thyroid carcinoma with or without cell oxyphilia (TCO; 603386) has been mapped to chromosome 19p.|OMIM|N|
C4721430|Stage IV includes: Any T, Any N, M1. M1: Distant metastasis (excludes peritoneal metastasis). (AJCC 6th and 7th eds.)|NCI|N|
C4721431|Stage IV includes: IVA (T4a, N0, M0); (T4a, N1, M0); (T1, N2, M0); (T2, N2, M0); (T3, N2, M0); (T4a, N2, M0); IVB (T4b, Any N, M0); (Any T, N3, M0); IVC (Any T, Any N, M1). T4a: Tumor with moderately advanced local disease. Tumor invades the larynx, extrinsic muscle of tongue, medial pterygoid, hard palate, or mandible. Mucosal extension to lingual surface of epiglottis from primary tumors of the base of the tongue and vallecula does not constitute invasion of larynx. T1: Tumor 2 cm or less in greatest dimension. T2: Tumor more than 2 cm but not more than 4 cm in greatest dimension. T3: Tumor measuring more than 4 centimeters in greatest dimension or extension to lingual surface of epiglottis. T4b: Tumor with very advanced local disease. Tumor invades lateral pterygoid muscle, pterygoid plates, lateral nasopharynx, or skull base or encases carotid artery. N0: No regional lymph node metastasis. N1: Metastasis in a single ipsilateral lymph node, 3 cm or less in greatest dimension. N2: Tumor with metastasis in a single ipsilateral lymph node, more than 3 cm but not more than 6 cm in greatest dimension, or in multiple ipsilateral lymph nodes, none more than 6 cm in greatest dimension, or in bilateral or contralateral lymph nodes, none more than 6 cm in greatest dimension. N3: Tumor with metastasis in a lymph node more than 6 cm in greatest dimension. M0: No distant metastasis. M1: Distant metastasis. (AJCC 7th ed.)|NCI|N|
C4721432|Stage IV includes: IVA: (T4, N0, M0); (T4, N1, M0); (T4, N2, M0); IVB (Any T, N3, M0); IVC (Any T, Any N, M1). T4: Nasopharyngeal cancer with intracranial extension and/or involvement of cranial nerves, hypopharynx, orbit, or with extension to the infratemporal fossa/masticator space. N0: No regional lymph node metastasis. N1: Nasopharyngeal cancer with unilateral metastasis in cervical lymph node(s), 6 cm or less in greatest dimension, above the supraclavicular fossa, and/or unilateral or bilateral, retropharyngeal lymph nodes, 6 cm or less in greatest dimension. Midline nodes are considered ipsilateral nodes. N2: Nasopharyngeal cancer with bilateral metastasis in cervical lymph node(s), 6 cm or less in greatest dimension, above the supraclavicular fossa. Midline nodes are considered ipsilateral nodes. N3: Nasopharyngeal cancer with metastasis in a lymph node (s) more than 6 cm in greatest dimension and/or to supraclavicular fossa. Supraclavicular zone or fossa is relevant to the staging of nasopharyngeal carcinoma and is the triangular region originally described by Ho. It is defined by three points: (1) the superior margin of the sternal end of the clavicle, (2) the superior margin of the lateral end of the clavicle, (3) the point where the neck meets the shoulder. This would include caudal portions of levels IV and VB. All cases with lymph nodes (whole or part) in the fossa are considered N3b. M0: No distant metastasis. M1: Distant metastasis. (AJCC 7th ed.)|NCI|N|
C4721433|Stage IV includes: IVA: (T4a, N0, M0); (T4a, N1, M0); (T1, N2, M0); (T2, N2, M0); (T3, N2, M0); (T4a, N2, M0); IVB: (T4b, Any N, M0); (Any T, N3, M0); IVC: (Any T, Any N, M1). T4a: Tumor with moderately advanced local disease. Tumor invades the thyroid/cricoid cartilage, hyoid bone, thyroid gland, or central compartment soft tissue. Central compartment soft tissue includes prelaryngeal strap muscles and subcutaneous fat. T1: Tumor limited to one subsite of hypopharynx and/or 2 cm or less in greatest dimension. T2: Tumor invades more than one subsite of the hypopharynx or an adjacent site, or measures more than 2 cm but not more than 4 cm in greatest diameter without fixation of hemilarynx. T3: Tumor measuring more than 4 cm in greatest dimension or tumor with fixation of hemilarynx or extension to esophagus. T4b: Tumor with very advanced local disease. Tumor invades prevertebral fascia, encases carotid artery, or involves mediastinal structures. N0: No regional lymph node metastasis. N1: Metastasis in a single ipsilateral lymph node, 3 cm or less in greatest dimension. N2: Tumor with metastasis in a single ipsilateral lymph node, more than 3 cm but not more than 6 cm in greatest dimension, or in multiple ipsilateral lymph nodes, none more than 6 cm in greatest dimension, or in bilateral or contralateral lymph nodes, none more than 6 cm in greatest dimension. N3: Metastasis in a lymph node more than 6 cm in greatest dimension. M0: No distant metastasis. M1: Distant metastasis. (AJCC 7th ed.)|NCI|N|
C4721434|Stage IV includes: IVA: (T4a, N0, M0); (T4a, N1, M0); (T1, N2, M0); (T2, N2, M0); (T3, N2, M0); (T4a, N2, M0); IVB: (T4b, Any N, M0); (Any T, N3, M0); IVC: (Any T, Any N, M1). T4a: Supraglottis: Moderately advanced local disease. Tumor invades through the thyroid cartilage and/or invades tissues beyond the larynx (e.g., trachea, soft tissues of neck including deep extrinsic muscle of the tongue, strap muscles, thyroid, or esophagus). Glottis: Moderately advanced local disease. Tumor invades through the outer cortex of the thyroid cartilage and/or invades tissues beyond the larynx (e.g., trachea, soft tissues of neck including deep extrinsic muscles of the tongue, strap muscles, thyroid, or esophagus). Subglottis: Moderately advanced local disease. Tumor invades cricoid or thyroid cartilage and/or invades tissues beyond the larynx (e.g., trachea, soft tissues of neck including deep extrinsic muscles of the tongue, strap muscles, thyroid, or esophagus). T4b: Supraglottis, Glottis, and Subglottis: Very advanced local disease. Tumor invades prevertebral space, encases carotid artery, or invades mediastinal structures. N0: No regional lymph node metastasis. N1: Metastasis in a single ipsilateral lymph node, 3cm or less in greatest dimension. N2: Metastasis in a single ipsilateral lymph node, more than 3 cm but not more than 6 cm in greatest dimension, or in multiple ipsilateral lymph nodes, none more than 6 cm in greatest dimension, or in bilateral or contralateral lymph nodes, none more than 6 cm in greatest dimension. N3: Metastasis in a lymph node, more than 6 cm in greatest dimension. M0: No distant metastasis. M1: Distant metastasis. (AJCC 7th ed.)|NCI|N|
C4721436|Congenital hypomyelinating neuropathy (CHN) is characterized clinically by onset of hypotonia at birth, areflexia, distal muscle weakness, and very slow nerve conduction velocities (often less than 10 m/s). Warner et al. (1997, 1998) noted that pathologic findings on sural nerve biopsies show hypomyelination of most or all fibers. Based on these findings, CHN is considered to be a result of congenital impairment in myelin formation.
There has been some controversy and difficulty in differentiating congenital hypomyelination from Dejerine-Sottas syndrome (DSS; 145900) because there is considerable overlap in clinical presentation. Based on pathologic findings of sural nerve biopsies (the absence of active myelin breakdown and the paucity of the onion bulbs in CHN and the presence of demyelination/remyelination and an abundance of well-organized onion bulbs in DSS; see Balestrini et al., 1991), CHN is considered to result from a congenital impairment in myelin formation, whereas DSS is thought to be due to aberrant demyelination and subsequent remyelination of the peripheral nerve.
There is also variation in the prognosis of patients diagnosed with CHN. In patients with CHN, Harati and Butler (1985) showed correlation of morbidity and mortality with the presence/absence of onion bulbs: patients with few onion bulbs died in early infancy, usually because of difficulty in swallowing and respiration after birth. Patients with atypical onion bulbs survived but were affected with severe motor and sensory impairment. These differences in outcome may represent genetic heterogeneity such that mutations in essential early myelin gene(s) cause a severe phenotype, whereas mutations in other, possibly later acting gene(s), such as MPZ, lead to a less severe outcome.
Genetic Heterogeneity of Congenital Hypomyelinating Neuropathy
See also CHN2 (618184), caused by mutation in the MPZ gene (159440) on chromosome 1q23; and CHN3 (618186), caused by mutation in the CNTNAP1 gene (602346) on chromosome 17q21.|OMIM|N|
C4721444|The leukemic counterpart of Burkitt''s lymphoma. The characteristic Burkitt cells are seen in the bone marrow and the peripheral blood. This is an aggressive leukemia.|NCI|N|
C4721445|To annoy, taunt, or joke with in a manner that is considered either petty, harassing, or playful.|PSY|N|
C4721448|A in situ carcinoma that involves the ureter.|MONDO|N|
C4721449|A in situ carcinoma that involves the urethra.|MONDO|N|
C4721452|A group of mature T-cell and NK-cell non-Hodgkin lymphomas that includes enteropathy-associated T-cell lymphoma, monomorphic epitheliotropic intestinal T-cell lymphoma, and intestinal T-cell lymphoma, not otherwise specified. Most of these lymphomas arise from the small intestine and a minority from the large intestine or stomach.|NCI|N|
C4721453|A non-neoplastic or neoplastic disorder that affects the peripheral nervous system.|NCI|N|
C4721502|A rare primary bone dysplasia with characteristics of cone-shaped epiphyses of the phalanges, hyperextensibility and hyper-flexibility of the fingers and marked delay in ossification of hand bones. Short-limbed short stature, very stubby, short fingers and toes, flat face and nose and a large skull may also be associated. There have been no further descriptions in the literature since 1980.|SNOMEDCT_US|N|
C4721505|Myeloid sarcoma is a rare solid tumor of the myelogenous cells occurring in an extramedullary site.|ORDO|N|
C4721509|Temporal and spatial heterogeneity in lungs based on presence of fibrosis and honeycombing.|HPO|N|
C4721513|A response indicating that an individual is or was unable to walk.|NCI|N|
C4721514|A determination of the amount of albumin being excreted in urine over a defined period of time.|NCI|N|
C4721530|A congenital condition, usually due to genetic aberrations, that is characterized by a lack of hair growth on the head and/or body.|NCI|N|
C4721531|STAT3 hyper IgE syndrome (STAT3-HIES) is a primary immune deficiency syndrome characterized by elevated serum IgE, eczema, and recurrent skin and respiratory tract infections, together with several nonimmune features. This disorder typically manifests in the newborn period with a rash (often diagnosed as eosinophilic pustulosis) that subsequently evolves into an eczematoid dermatitis. Recurrent staphylococcal skin boils and bacterial pneumonias usually manifest in the first years of life. Pneumatoceles and bronchiectasis often result from aberrant healing of pneumonias. Mucocutaneous candidiasis is common. Nonimmune features may include retained primary teeth, scoliosis, bone fractures following minimal trauma, joint hyperextensibility, and characteristic facial appearance, which typically emerges in adolescence. Vascular abnormalities have been described and include middle-sized artery tortuosity and aneurysms, with infrequent clinical sequelae of myocardial infarction and subarachnoid hemorrhage. Gastrointestinal (GI) manifestations include gastroesophageal reflux disease, esophageal dysmotility, and spontaneous intestinal perforations (some of which are associated with diverticuli). Fungal infections of the GI tract (typically histoplasmosis, Cryptococcus, and Coccidioides) also occur infrequently. Survival is typically into adulthood, with most individuals now living into or past the sixth decade. Most deaths are associated with gram-negative (Pseudomonas) or filamentous fungal pneumonias resulting in hemoptysis. Lymphomas occur at an increased frequency.|GeneReviews|N|
C4721541|Zellweger spectrum disorder (ZSD) is a phenotypic continuum ranging from severe to mild. While individual phenotypes (e.g., Zellweger syndrome [ZS], neonatal adrenoleukodystrophy [NALD], and infantile Refsum disease [IRD]) were described in the past before the biochemical and molecular bases of this spectrum were fully determined, the term "ZSD" is now used to refer to all individuals with a defect in one of the ZSD-PEX genes regardless of phenotype. Individuals with ZSD usually come to clinical attention in the newborn period or later in childhood. Affected newborns are hypotonic and feed poorly. They have distinctive facies, congenital malformations (neuronal migration defects associated with neonatal-onset seizures, renal cysts, and bony stippling [chondrodysplasia punctata] of the patella[e] and the long bones), and liver disease that can be severe. Infants with severe ZSD are significantly impaired and typically die during the first year of life, usually having made no developmental progress. Individuals with intermediate/milder ZSD do not have congenital malformations, but rather progressive peroxisome dysfunction variably manifest as sensory loss (secondary to retinal dystrophy and sensorineural hearing loss), neurologic involvement (ataxia, polyneuropathy, and leukodystrophy), liver dysfunction, adrenal insufficiency, and renal oxalate stones. While hypotonia and developmental delays are typical, intellect can be normal. Some have osteopenia; almost all have ameleogenesis imperfecta in the secondary teeth.|GeneReviews|N|
C4721549|Autosomal dominant neovascular inflammatory vitreoretinopathy (VRNI) is a blinding disorder that shares some clinical features with retinitis pigmentosa (see 268000), uveitis, and proliferative diabetic retinopathy (see 603933). Features include prominent ocular inflammation; vascular dropout, large spots of hyperpigmentation, and neovascularization of the peripheral and posterior retina; vitreous hemorrhage; and retinal detachment (summary by Sheffield et al., 1992).|OMIM|N|
C4721555|A rare liver disease characterized by immune-mediated, acute or chronic liver inflammation, clinically presenting as cryptogenic hepatitis, with interface hepatitis on histological examination, elevated serum aminotransferase levels, and hypergammaglobulinemia / elevated immunoglobulin G, in the presence or absence of specific circulating autoantibodies. Patients may be asymptomatic, chronically ill, or present with acute liver failure. Concurrent autoimmune diseases are frequently observed.|ORDO|N|
C4721578|Stage IV includes: For squamous cell carcinoma: Any T, Any N, M1, Any G, Tumor location: Any. For adenocarcinoma: Any T, Any N, M1, Any G. M1: Distant metastasis. Tumor location: Location of the primary cancer site is defined by the position of the upper (proximal) edge of the tumor in the esophagus. (AJCC 7th ed.)|NCI|N|
C4721610|A malignant neoplasm originating from the surface ovarian epithelium.|HPO|N|
C4721645|Stage II includes: IIA (T2, N0, M0, G3); IIB (T3, N0, M0, Any G); (T1-2, N1, M0, Any G). T2: Tumor invades muscularis propria. T3: Tumor invades adventitia. T1: Tumor invades lamina propria, muscularis mucosae, or submucosa. N0: No regional lymph node metastasis. N1: Metastasis in 1-2 regional lymph nodes. M0: No distant metastasis. G3: Poorly differentiated. (AJCC 7th ed.)|NCI|N|
C4721646|Stage I includes: IA (T1, N0, M0, G1-2, X); IB (T1, N0, M0, G3); (T2, N0, M0, G1-2, GX). T1: Tumor invades lamina propria, muscularis mucosae, or submucosa. T2: Tumor invades muscularis propria. N0: No regional lymph node metastasis. M0: No distant metastasis. G1: Well differentiated. G2: Moderately differentiated. G3: Poorly differentiated. GX: Grade cannot be assessed-stage grouping as G1. (AJCC 7th ed.)|NCI|N|
C4721647|Stage III includes: IIIA (T1-2, N2, M0, Any G); (T3, N1, M0, Any G); (T4a, N0, M0, Any G); IIIB (T3, N2, M0, Any G); IIIC (T4a, N1-2, M0, Any G); (T4b, Any N, M0, Any G); (Any T, N3, M0, Any G). T1: Tumor invades lamina propria, muscularis mucosae, or submucosa. T2: Tumor invades muscularis propria. T3: Tumor invades adventitia. T4a: Resectable tumor invading pleura, pericardium, or diaphragm. T4b: Unresectable tumor invading other adjacent structures, such as aorta, vertebral body, trachea, etc. N0: No regional lymph node metastasis. N1: Metastasis in 1-2 regional lymph nodes. N2: Metastasis in 3-6 regional lymph nodes. N3: Metastasis in seven or more regional lymph nodes. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C4721648|Stage I includes: IA (T1, N0, M0, G1, GX, Tumor location: Any); IB (T1, N0, M0, G2-3, Tumor location: Any); (T2-3, N0, M0, G1, GX, Tumor location: Lower, X). T1: Tumor invades lamina propria, muscularis mucosae, or submucosa. T2: Tumor invades muscularis propria. T3: Tumor invades adventitia. N0: No regional lymph node metastasis. M0: No distant metastasis. G1: Well differentiated. GX: Grade cannot be assessed-stage grouping as G1. G2: Moderately differentiated. G3: Poorly differentiated. Tumor location: Location of the primary cancer site is defined by the position of the upper (proximal) edge of the tumor in the esophagus. (AJCC 7th ed.)|NCI|N|
C4721649|Stage II includes: IIA (T2-3, N0, M0, G1, GX, Tumor location: Upper, middle); (T2-3, N0, M0, G2-3, Tumor location: Lower, X); IIB (T2-3, N0, M0, G2-3, Tumor location: Upper, middle); (T1-2, N1, M0, Any G, Tumor location: Any). T2: Tumor invades muscularis propria. T3: Tumor invades adventitia. T1: Tumor invades lamina propria, muscularis mucosae, or submucosa. N0: No regional lymph node metastasis. N1: Metastasis in 1-2 regional lymph nodes. M0: No distant metastasis. G1: Well differentiated. GX: Grade cannot be assessed-stage grouping as G1. G2: Moderately differentiated. G3: Poorly differentiated. Tumor location: Location of the primary cancer site is defined by the position of the upper (proximal) edge of the tumor in the esophagus. (AJCC 7th ed.)|NCI|N|
C4721650|Stage III includes: IIIA (T1-2, N2, M0, Any G, Tumor location: Any); (T3, N1, M0, Any G, Tumor location: Any); (T4a, N0, M0, Any G, Tumor location: Any); IIIB (T3, N2, M0, Any G, Tumor location: Any); IIIC (T4a, N1-2, M0, Any G, Tumor location: Any); (T4b, Any N, M0, Any G, Tumor location: Any); (Any T, N3, M0, Any G, Tumor location: Any). T1: Tumor invades lamina propria, muscularis mucosae, or submucosa. T2: Tumor invades muscularis propria. T3: Tumor invades adventitia. T4a: Resectable tumor invading pleura, pericardium, or diaphragm. T4b: Unresectable tumor invading other adjacent structures, such as aorta, vertebral body, trachea, etc. N0: No regional lymph node metastasis. N1: Metastasis in 1-2 regional lymph nodes. N2: Metastasis in 3-6 regional lymph nodes. N3: Metastasis in seven or more regional lymph nodes. M0: No distant metastasis. Tumor location: Location of the primary cancer site is defined by the position of the upper (proximal) edge of the tumor in the esophagus. (AJCC 7th ed.)|NCI|N|
C4721652|Stage III includes: (T3, N0, M0); IIIA (T3a, N0, M0); IIIB (T3b, N0, M0); IIIC (T3c, N0, M0); (Any T, N1, M0). T3: Tumor involves one or both fallopian tubes, with peritoneal implants outside the pelvis. T3a: Microscopic peritoneal metastasis outside the pelvis. T3b: Macroscopic peritoneal metastasis outside the pelvis 2 cm or less in greatest dimension. T3c: Peritoneal metastasis outside the pelvis and more than 2 cm in diameter. N0: No regional lymph node metastasis. N1: Regional lymph node metastasis. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C4721653|Stage I includes: (T1, N0, M0). T1: Tumor limited to ovaries (one or both). N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th Eds.)|NCI|N|
C4721654|Stage II includes: T2, N0, M0. T2: Tumor involves one or both ovaries with pelvic extension and/or implants. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C4721655|Stage III includes: T3, N0, M0. T3: Tumor involves one or both both ovaries with microscopically confirmed peritoneal metastasis outside pelvis. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C4721656|Stage IV includes: Any T, Any N, M1. M1: Distant metastasis (excludes peritoneal metastasis). (AJCC 6th and 7th eds.)|NCI|N|
C4721657|Stage I includes: (T1, N0, M0). T1: Tumor limited to ovaries (one or both). N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th Eds.)|NCI|N|
C4721658|Stage II includes: T2, N0, M0. T2: Tumor involves one or both ovaries with pelvic extension and/or implants. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C4721659|Stage III includes: T3, N0, M0. T3: Tumor involves one or both both ovaries with microscopically confirmed peritoneal metastasis outside pelvis. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C4721660|Stage IV includes: Any T, Any N, M1. M1: Distant metastasis (excludes peritoneal metastasis). (AJCC 6th and 7th eds.)|NCI|N|
C4721661|Stage IV includes: (Any T, Any N, M1a); (Any T, Any N, M1b). M1a: Lung cancer with separate tumor nodule(s) in a contralateral lobe; tumor with pleural nodules or malignant pleural (or pericardial) effusion. M1b: Distant metastasis. (AJCC 7th ed.)|NCI|N|
C4721664|Stage 0 includes: Tis (HGD), N0, M0, G1,GX. Tis: High-grade dysplasia. N0: No regional lymph node metastasis. M0: No distant metastasis. G1: Well differentiated. GX: Grade cannot be assessed-stage grouping as G1. (AJCC 7th ed.)|NCI|N|
C4721665|Stage 0 includes: Tis (HGD), N0, M0, G1, GX, Tumor location: Any. Tis: High-grade dysplasia. N0: No regional lymph node metastasis. M0: No distant metastasis. G1: Well differentiated. GX: Grade cannot be assessed-stage grouping as G1. Tumor location: Location of the primary cancer site is defined by the position of the upper (proximal) edge of the tumor in the esophagus. (AJCC 7th ed.)|NCI|N|
C4721666|A carcinoma that arises from the bladder and has metastasized to another anatomic site.|NCI|N|
C4721669|Stage IV includes: IVA: (T4a, N0, M0); (T4a, N1, M0); (T1, N2, M0); (T2, N2, M0); (T3, N2, M0); (T4a, N2, M0); IVB: (T4b, Any N, M0); (Any T, N3, M0); IVC: (Any T, Any N, M1). T4: (Supraglottis) T4a: Tumor invades through the thyroid cartilage and/or invades tissues beyond the larynx (e.g., trachea, soft tissues of neck including deep extrinsic muscle of the tongue, strap muscles, thyroid, or esophagus). T4b: Tumor invades prevertebral space, encases carotid artery, or invades mediastinal structures. (Glottis) T4a: Tumor invades through the thyroid cartilage and/or invades tissues beyond the larynx (e.g., trachea, soft tissues of neck including deep extrinsic muscles of the tongue, strap muscles, thyroid, or esophagus). T4b: Tumor invades prevertebral space, encases carotid artery, or invades mediastinal structures. (Subglottis) T4a: Tumor invades cricoid or thyroid cartilage and/or invades tissues beyond the larynx (e.g., trachea, soft tissues of neck including deep extrinsic muscles of the tongue, strap muscles, thyroid, or esophagus). T4b: Tumor invades prevertebral space, encases carotid artery, or invades mediastinal structures. N2: Metastasis in a single ipsilateral lymph node, more than 3 cm but not more than 6 cm in greatest dimension, or in multiple ipsilateral lymph nodes, none more than 6 cm in greatest dimension, or in bilateral or contralateral lymph nodes, none more than 6 cm in greatest dimension. N2a: Metastasis in a single ipsilateral lymph node more than 3 cm but not more than 6 cm in greatest dimension. N2b: Metastasis in multiple ipsilateral lymph nodes, none more than 6 cm in greatest dimension. N2c: Metastasis in bilateral or contralateral lymph nodes, none more than 6 cm in greatest dimension. N3: Metastasis in a lymph node more than 6 cm in greatest dimension. M1: Distant metastasis. (AJCC 6th ed.)|NCI|N|
C4721698|Renal cell carcinoma that has spread from the kidney to other anatomic sites.|NCI|N|
C4721700|Stage IV includes: IVA: (T4a, N0, M0); (T4a, N1, M0); (T1, N2, M0); (T2, N2, M0); (T3, N2, M0); (T4a, N2, M0); IVB: (T4b, Any N, M0); (Any T, N3, M0); IVC: (Any T, Any N, M1). T4a: Supraglottis: Moderately advanced local disease. Tumor invades through the thyroid cartilage and/or invades tissues beyond the larynx (e.g., trachea, soft tissues of neck including deep extrinsic muscle of the tongue, strap muscles, thyroid, or esophagus). Glottis: Moderately advanced local disease. Tumor invades through the outer cortex of the thyroid cartilage and/or invades tissues beyond the larynx (e.g., trachea, soft tissues of neck including deep extrinsic muscles of the tongue, strap muscles, thyroid, or esophagus). Subglottis: Moderately advanced local disease. Tumor invades cricoid or thyroid cartilage and/or invades tissues beyond the larynx (e.g., trachea, soft tissues of neck including deep extrinsic muscles of the tongue, strap muscles, thyroid, or esophagus). T4b: Supraglottis, Glottis, and Subglottis: Very advanced local disease. Tumor invades prevertebral space, encases carotid artery, or invades mediastinal structures. N0: No regional lymph node metastasis. N1: Metastasis in a single ipsilateral lymph node, 3cm or less in greatest dimension. N2: Metastasis in a single ipsilateral lymph node, more than 3 cm but not more than 6 cm in greatest dimension, or in multiple ipsilateral lymph nodes, none more than 6 cm in greatest dimension, or in bilateral or contralateral lymph nodes, none more than 6 cm in greatest dimension. N3: Metastasis in a lymph node, more than 6 cm in greatest dimension. M0: No distant metastasis. M1: Distant metastasis. (AJCC 7th ed.)|NCI|N|
C4721747|Stage IV includes: Any T, Any N, M1, Any G, Tumor location: Any. M1: Distant metastasis. Tumor location: Location of the primary cancer site is defined by the position of the upper (proximal) edge of the tumor in the esophagus. (AJCC 7th ed.)|NCI|N|
C4721748|Stage IV includes: Any T, Any N, M1, Any G. M1: Distant metastasis. (AJCC 7th ed.)|NCI|N|
C4721769|Citrullinemia type I (CTLN1) presents as a spectrum that includes a neonatal acute form (the "classic" form), a milder late-onset form (the "non-classic" form), a form in which women have onset of symptoms at pregnancy or post partum, and a form without symptoms or hyperammonemia. Distinction between the forms is based primarily on clinical findings, although emerging evidence suggests that measurement of residual argininosuccinate synthase enzyme activity may help to predict those who are likely to have a severe phenotype and those who are likely to have an attenuated phenotype. Infants with the acute neonatal form appear normal at birth. Shortly thereafter, they develop hyperammonemia and become progressively lethargic, feed poorly, often vomit, and may develop signs of increased intracranial pressure (ICP). Without prompt intervention, hyperammonemia and the accumulation of other toxic metabolites (e.g., glutamine) result in increased ICP, increased neuromuscular tone, spasticity, ankle clonus, seizures, loss of consciousness, and death. Children with the severe form who are treated promptly may survive for an indeterminate period of time, but usually with significant neurologic deficits. Even with chronic protein restriction and scavenger therapy, long-term complications such as liver failure and other (rarely reported) organ system manifestations are possible. The late-onset form may be milder than that seen in the acute neonatal form, but commences later in life for reasons that are not completely understood. The episodes of hyperammonemia are similar to those seen in the acute neonatal form, but the initial neurologic findings may be more subtle because of the older age of the affected individuals. Women with onset of severe symptoms including acute hepatic decompensation during pregnancy or in the postpartum period have been reported. Furthermore, previously asymptomatic and non-pregnant individuals have been described who remained asymptomatic up to at least age ten years, with the possibility that they could remain asymptomatic lifelong.|GeneReviews|N|
C4721773|COGNITIVE IMPAIRMENT or functional decline after a surgical procedure.|MSH|N|
C4721780|Stage IV includes: Any T, Any N, M1. M1: Distant metastasis (excludes peritoneal metastasis). (AJCC 6th and 7th eds.)|NCI|N|
C4721788|A bifid rib refers to cleavage of the sternal end of a rib, usually unilateral. Bifid ribs are usually asymptomatic, and are often discovered incidentally by chest x-ray.|HPO|N|
C4721790|Stage IB includes: T1b, N0, M0. T1b: Tumor limited to both ovaries; capsules intact, no tumor on ovarian surface. No malignant cells in ascites or peritoneal washings. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C4721791|Stage IC includes: T1c, N0, M0. T1c: Tumor limited to one or both ovaries with any of the following: capsule ruptured, tumor on ovarian surface, malignant cells in ascites or peritoneal washings. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C4721792|Stage IIA includes: T2a, N0, M0. T2a: Extension and/or implants on uterus and/or tube(s). No malignant cells in ascites or peritoneal washings. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C4721793|Stage IIB includes: T2b N0, M0. T2b: Extension and/or implants on other pelvic tissues. No malignant cells in ascites or peritoneal washings. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C4721794|Stage IIIA includes: T3a, N0, M0. T3a: Microscopic peritoneal metastasis beyond pelvis (no macroscopic tumor). N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C4721795|Stage IIIB includes: T3b, N0, M0. T3b: Macroscopic peritoneal metastasis beyond pelvis 2 cm or less in greatest dimension. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C4721796|Ovarian cancer with macroscopic, extrapelvic, peritoneal metastasis greater than 2 cm +/- positive retroperitoneal lymph nodes. Includes extension to capsule of liver/spleen. (FIGO, 2014)|NCI|N|
C4721797|Stage II includes: T2, N0, M0. T2: Tumor invades more than one subsite of the hypopharynx or an adjacent site, or measures more than 2 cm but not more than 4 cm in greatest diameter without fixation of hemilarynx. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)|NCI|N|
C4721806|The presence of a basal cell carcinoma of the skin.|HPO|N|
C4721824|The history of when and what an individual smoke(s) or smoked.|NCI|N|
C4721859|An autosomal dominant inherited adenocarcinoma that arises from the gastric mucosa and is characterized by the presence of poorly cohesive malignant cells and absence of glandular formations.|NCI|N|
C4721885|Autosomal dominant limb-girdle muscular dystrophy is characterized by proximal and/or distal muscle weakness and atrophy. The age at onset is variable and can range from the first to the sixth decade, although later onset is less common. Most patients present with proximal muscle weakness that progresses to distal involvement, but some can present with distal impairment. The severity is variable: patients with a more severe phenotype can lose ambulation after several decades and have facial weakness with bulbar and respiratory involvement. Muscle biopsy shows dystrophic changes with protein aggregates, myofibrillar degeneration, and rimmed vacuoles (summary by Ruggieri et al., 2015).
Genetic Heterogeneity of Autosomal Dominant Limb-Girdle Muscular Dystrophy
Other forms of autosomal dominant LGMD include LGMDD2 (608423), previously LGMD1F, caused by mutation in the TNPO3 gene (610032) on chromosome 7q32; LGMDD3 (609115), previously LGMD1G, caused by mutation in the HNRNPDL gene (607137) on chromosome 4q21; and LGMDD4 (618129), previously LGMD1I, caused by mutation in the CAPN3 gene (114240) on chromosome 15q15.
For a discussion of autosomal recessive LGMD, see 253600.|OMIM|N|
C4721886|Myofibrillar myopathy-4 (MFM4) is an autosomal dominant disorder characterized by adult-onset distal muscle weakness primarily affecting the lower limbs at onset. Affected individuals usually present with gait difficulties in their forties, followed by slow progression with eventual involvement of the hands and proximal muscles of the lower limbs. Rare patients may develop cardiomyopathy. Skeletal muscle biopsy shows myopathic changes with myofibrillar changes (Selcen and Engel, 2005; Griggs et al., 2007).
For a phenotypic description and a discussion of genetic heterogeneity of myofibrillar myopathy, see MFM1 (601419).|OMIM|N|
C4721887|MFN2 hereditary motor and sensory neuropathy (MFN2-HMSN) is a classic axonal peripheral sensorimotor neuropathy, inherited in either an autosomal dominant (AD) manner (~90%) or an autosomal recessive (AR) manner (~10%). MFN2-HMSN is characterized by more severe involvement of the lower extremities than the upper extremities, distal upper-extremity involvement as the neuropathy progresses, more prominent motor deficits than sensory deficits, and normal (>42 m/s) or only slightly decreased nerve conduction velocities (NCVs). Postural tremor is common. Median onset is age 12 years in the AD form and age eight years in the AR form. The prevalence of optic atrophy is approximately 7% in the AD form and approximately 20% in the AR form.|GeneReviews|N|
C4721889|In spermatogenic failure-3 (SPGF3), primary infertility is associated with nonobstructive asthenozoospermia (Dirami et al., 2013).
For a discussion of phenotypic and genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).|OMIM|N|
C4721890|Mutations in the CRYGC gene have been found to cause several types of cataract, which have been described as Coppock-like; embryonic, fetal, infantile nuclear; zonular pulverulent; and lamellar. Some patients also exhibit microcornea.
Before it was known that mutations in the CRYGC gene cause several types of cataract, this entry was titled 'Cataract, Coppock-like,' with the symbol CCL.|OMIM|N|
C4721891|HOMG5 is an autosomal recessive disorder characterized by severe renal magnesium wasting, progressive renal failure, nephrocalcinosis, and severe visual impairment (Konrad et al., 2006). Amelogenesis imperfecta may also be present in some patients (Yamaguti et al., 2017).
For a discussion of genetic heterogeneity of renal hypomagnesemia, see 602014.|OMIM|N|
C4721892|A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of early macrosomia, bilateral severe microphthalmia and a protuberant abdomen with hepatomegaly. Additional reported features include brachycephaly, large fontanelles, prominent forehead, upturned nose and median cleft palate. Cyanotic apneic spells and overwhelming infection lead to death within the first 6 months of life. There have been no further descriptions in the literature since 1989.|SNOMEDCT_US|N|
C4721893|Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL) is characterized by fractures (resulting from radiologically demonstrable polycystic osseous lesions), frontal lobe syndrome, and progressive presenile dementia beginning in the fourth decade. The clinical course of PLOSL can be divided into four stages: 1. The latent stage is characterized by normal early development. 2. The osseous stage (3rd decade of life) is characterized by pain and tenderness, mostly in ankles and feet, usually following strain or injury. Fractures are typically diagnosed several years later, most commonly in the bones of the extremities. 3. In the early neurologic stage (4th decade of life), a change of personality begins to develop insidiously. Affected individuals show a frontal lobe syndrome (loss of judgment, euphoria, loss of social inhibitions, disturbance of concentration, and lack of insight, libido, and motor persistence) leading to serious social problems. 4. The late neurologic stage is characterized by progressive dementia and loss of mobility. Death usually occurs before age 50 years.|GeneReviews|N|
C4721915|Stage 0 includes: (Tis, N0, M0). Tis: Carcinoma in situ. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th ed.)|NCI|N|
C4721916|Hereditary motor and sensory neuropathies (HMSN) are a heterogeneous group of peripheral nervous system disorders affecting motor and sensory function. HMSN I, also known as Charcot-Marie-Tooth (CMT) disease, or peroneal muscular atrophy, type 1, is a demyelinating neuropathy (see CMT1B; 118200) and HMSN II, also known as CMT type 2, is an axonal neuropathy (see CMT2A1; 118210). See also HMSN III (145900) and HMSN IV (266500).
For an autosomal recessive disorder with similarities to HMSN V, see 607731.|OMIM|N|
C4721918|A sex cord-stromal tumor characterized by mixed features of both fibroma and thecoma.|MONDO|N|
C4721922|Stage 0 includes: (Tis, N0, M0); (Ta, N0, M0). Tis: Carcinoma in situ. Ta: Non-invasive verrucous carcinoma. cN0: No palpable or visibly enlarged inguinal lymph nodes. pN0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C4721923|Stage IA includes: T1a, N0, M0. T1a: For leiomyosarcoma and endometrial stromal sarcoma: tumor 5 cm or less in greatest dimension. For adenosarcoma: tumor limited to endometrium/endocervix. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C4721924|Stage IB includes: T1b, N0, M0. T1b: For leiomyosarcoma and endometrial stromal sarcoma: tumor more than 5 cm in greatest dimension. For adenosarcoma: tumor invades to less than half of the myometrium. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C4721925|Stage IC includes: T1c, N0, M0. T1c: For adenosarcoma: tumor invades more than half of the myometrium. N0: No regional lymph node metastasis. M0: No distant metastasis. Stage IC does not apply for leiomyosarcoma and endometrial stromal sarcoma. (AJCC 7th ed.)|NCI|N|
C4721926|Stage IIIA includes: T3a, N0, M0. T3a: Tumor infiltrates abdominal tissues, one side. N0: No regional lymph node metastasis. M0: No distant metastasis. This staging applies to leiomyosarcoma, endometrial stromal sarcoma, and adenosarcoma. (AJCC 7th ed.)|NCI|N|
C4721927|Stage IIIB includes: T3b, N0, M0. T3b: Tumor infiltrates abdominal tissues, more than one side. N0: No regional lymph node metastasis. M0: No distant metastasis. This staging applies to leiomyosarcoma, endometrial stromal sarcoma, and adenosarcoma. (AJCC 7th ed.)|NCI|N|
C4721928|Stage IVA includes: T4, Any N, M0. T4: Tumor involves bladder or rectum. M0: No distant metastasis. This staging applies to leiomyosarcoma, endometrial stromal sarcoma, and adenosarcoma. (AJCC 7th ed.)|NCI|N|
C4721929|Stage IVB includes: Any T, Any N, M1. M1: Distal metastasis (excluding adnexa, pelvic and abdominal tissues). This staging applies to leiomyosarcoma, endometrial stromal sarcoma, and adenosarcoma. (AJCC 7th ed.)|NCI|N|
C4722000|An adverse event in a newborn characterized by accumulation of an excessive amount of fluid in cells or intercellular tissues.|NCI|N|
C4722007|An adverse event in a newborn characterized by abnormally low blood pressure, which is usually symptomatic.|NCI|N|
C4722011|An adverse event in a newborn characterized by bleeding in the respiratory tract of a neonate.|NCI|N|
C4722048|An adverse event in a newborn characterized by hemorrhage occupying less than 50% of ventricular volume without ventricular dilatation greater than 4mm above the 97th percentile.|NCI|N|
C4722082|An adverse event in a newborn characterized by an eruption in the skin which affects its appearance and/or texture.|NCI|N|
C4722083|A teratoma composed exclusively of immature tissues.|NCI|N|
C4722103|A response indicating that an individual is or was unable to remember anything.|NCI|N|
C4722133|An adverse event in a newborn characterized by expulsion of the contents of the stomach through the mouth.|NCI|N|
C4722166|A change in the amino acid residue at position 859 in the mast/stem cell growth factor receptor Kit protein where leucine has been replaced by proline.|NCI|N|
C4722167|A change in the amino acid residue at position 831 in the mast/stem cell growth factor receptor Kit protein where leucine has been replaced by proline.|NCI|N|
C4722168|An adverse event in a newborn characterized by abnormal blood clotting or bleeding.|NCI|N|
C4722176|An adverse event in a newborn characterized by watery bowel movements.|NCI|N|
C4722185|An adverse event characterized by a retinal condition of very immature infants that may be characterized by non-vascularized retinae that may lead to neovascularization, scarring, retinal detachment, and blindness.|NCI|N|
C4722188|An adverse event in a newborn characterized by a lung disorder associated with pulmonary maldevelopment, scarring, and/or inflammation that develops in preterm neonates. The condition is defined based on treatment with supplemental oxygen for at least 28 days adjusted for the degree of prematurity.|NCI|N|
C4722209|Used to describe a sexual orientation that is not exclusively homosexual or heterosexual.|NCI|N|
C4722210|While in a clear state of consciousness, hears a voice calling the individual''s name, experiences non-verbal auditory hallucinations (e.g., sounds or whispers), formless visual hallucinations or has sensory experiences in the presence of a modality relevant stimulus (e.g., visual illusions) infrequently (e.g., 1-2 times per week) and with no functional impairment.|NCI|N|
C4722225|An adverse event in a newborn characterized by sudden, involuntary, rapid rhythmic or stereotyped skeletal muscular contraction.|NCI|N|
C4722227|A coagulation disorder characterized by the partial or complete absence of prothrombin (factor II) activity in the blood.|NCI|N|
C4722246|A response indicating that an individual is or was unable to speak at all.|NCI|N|
C4722247|A response indicating that an individual is or was able to hear what was said without hearing aids.|NCI|N|
C4722251|A response indicating that an individual is or was unable to hear at all.|NCI|N|
C4722258|Epidermodysplasia verruciformis (EV) is a rare genodermatosis associated with a high risk of skin cancer. EV results from an abnormal susceptibility to specific related human papillomavirus (HPV) genotypes and to the oncogenic potential of some of them, mainly HPV5. Infection with EV-associated HPV leads to the early development of disseminated flat wart-like and pityriasis versicolor-like lesions. Patients are unable to reject their lesions, and cutaneous Bowen carcinomas in situ and invasive squamous cell carcinomas develop in about half of them, mainly on sun-exposed areas (summary by Ramoz et al., 2000).
For a discussion of genetic heterogeneity of susceptibility to epidermodysplasia verruciformis, see EV1 (226400).|OMIM|N|
C4722260|A change in the nucleotide sequence of the MAPK1 gene.|NCI|N|
C4722263|An adverse event in a newborn characterized by bleeding into the lateral cerebral ventricles.|NCI|N|
C4722264|A response indicating that an individual is or was unable to see at all.|NCI|N|
C4722268|A response indicating that an individual is or was moderately bothered.|NCI|N|
C4722273|Isolated growth hormone deficiency type IV (IGHD4) is an autosomal recessive disorder characterized by early and severe growth failure (height SDS up to -7.4), a blunted growth hormone (GH) response to different provocation tests and low insulin-like growth factor-I (IGF1; 147440) and IGF-binding protein-3 (IGFBP3; 146732) concentrations, and a good response to growth hormone treatment (summary by Alatzoglou et al., 2014).
For general phenotypic information and a discussion of genetic heterogeneity of IGHD, see 262400.|OMIM|N|
C4722276|A rare tumor, usually occurring in young adults (mean age 12 years) with slight female predominance. It is characterized by a proliferation of anaplastic spindle cells with bizarre, pleomorphic nuclei and atypical mitotic figures. Most cases show chondroid differentiation.|NCI|N|
C4722277|Congenital hypomyelinating neuropathy-2 is an autosomal dominant neurologic disorder characterized by early-onset hypotonia, severely delayed motor development, muscle weakness with areflexia, and severely decreased nerve conduction velocities (NCV) resulting from improper myelination of axons. The severity is variable: some patients may present at birth with contractures and respiratory insufficiency, whereas others may achieve walking (summary by Warner et al., 1996).
CHN shows significant phenotypic overlap with Dejerine-Sottas syndrome (DSS; 145900), which is also a neuropathy with early onset. Some classify the disorders differently, noting that CHN is characterized by hypo- or amyelination resulting from a congenital defect in myelin formation, whereas DSS has features of continuous myelin breakdown, with demyelination and remyelination (summary by Smit et al., 2008).
For a discussion of genetic heterogeneity of CHN, see CHN1 (605253).|OMIM|N|
C4722287|An adverse event in a newborn characterized by a collection of air or other gas between the visceral and parietal pleura.|NCI|N|
C4722293|A response indicating that an individual identifies with a gender category not included in the existing list of values.|NCI|N|
C4722298|A response indicating that an individual is or was unable to walk at all.|NCI|N|
C4722303|A molecular genetic abnormality indicating the presence of multiple copies of the MDM4 gene.|NCI|N|
C4722305|Hyper-IgE syndrome-2 with recurrent infections (HIES2) is an autosomal recessive immunologic disorder characterized by recurrent staphylococcal infections of the skin and respiratory tract, eczema, elevated serum immunoglobulin E, and hypereosinophilia. It is distinguished from autosomal dominant HIES1 (147060) by the lack of connective tissue and skeletal involvement (Renner et al., 2004).
For a discussion of genetic heterogeneity of hyper-IgE syndrome, see 147060.
See also TYK2 deficiency (611521), a clinically distinct disease entity that includes characteristic features of both autosomal recessive HIES2 and mendelian susceptibility to mycobacterial disease (MSMD; 209950) (Minegishi et al., 2006).|OMIM|N|
C4722306|A neuroblastoma that has metastasized from its original site of growth to another anatomic site.|NCI|N|
C4722311|A change in the amino acid residue at position 7 in the hemoglobin subunit beta protein where glutamic acid has been replaced by valine.|NCI|N|
C4722312|A change in the amino acid residue at position 122 in the hemoglobin subunit beta protein where glutamic acid has been replaced by lysine.|NCI|N|
C4722325|A uniparental disomy of chromosome 13 of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only the mother is a carrier.|SNOMEDCT_US|N|
C4722326|Paternal uniparental disomy of chromosome 13 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier.|SNOMEDCT_US|N|
C4722327|A small percentage of prostate cancers are hereditary and occur in families. These hereditary cancers are associated with inherited gene variants. Hereditary prostate cancers tend to develop earlier in life than non-inherited (sporadic) cases.\n\nSome cancerous tumors can invade surrounding tissue and spread to other parts of the body. Tumors that begin at one site and then spread to other areas of the body are called metastatic cancers. The signs and symptoms of metastatic cancer depend on where the disease has spread. If prostate cancer spreads, cancerous cells most often appear in the lymph nodes, bones, lungs, liver, or brain. \n\nThe severity and outcome of prostate cancer varies widely. Early-stage prostate cancer can usually be treated successfully, and some older men have prostate tumors that grow so slowly that they may never cause health problems during their lifetime, even without treatment. In other men, however, the cancer is much more aggressive; in these cases, prostate cancer can be life-threatening.\n\nEarly prostate cancer usually does not cause pain, and most affected men exhibit no noticeable symptoms. Men are often diagnosed as the result of health screenings, such as a blood test for a substance called prostate specific antigen (PSA) or a medical exam called a digital rectal exam (DRE). As the tumor grows larger, signs and symptoms can include difficulty starting or stopping the flow of urine, a feeling of not being able to empty the bladder completely, blood in the urine or semen, or pain with ejaculation. However, these changes can also occur with many other genitourinary conditions. Having one or more of these symptoms does not necessarily mean that a man has prostate cancer.\n\nProstate cancer is a common disease that affects men, usually in middle age or later. In this disorder, certain cells in the prostate become abnormal, multiply without control or order, and form a tumor. The prostate is a gland that surrounds the male urethra and helps produce semen, the fluid that carries sperm.|MedlinePlus Genetics|N|
C4722328|Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma.|NCI|N|
C4722330|Reduced sensitivity of end organs to thyroid hormone characterized by elevated serum levels of free thyroid hormone with nonsuppressed thyroid stimulating hormone.|HPO|N|
C4722404|The gradual, clonal expansion of hematopoietic stem and progenitor cells carrying specific, disruptive, and recurrent genetic variants, in individuals without clear diagnosis of hematological malignancies. It is associated with an increased risk of developing hematologic cancers.|NCI|N|
C4722413|An adverse event in a newborn characterized by cessation of air flow.|NCI|N|
C4722418|Occasional verbal, visual, gustatory, olfactory or tactile hallucinations with no functional impairment; or non-verbal auditory hallucinations/visual illusions more than infrequently or with impairment.|NCI|N|
C4722419|A small cell neuroendocrine carcinoma that arises from an anatomic site other than the lung.|NCI|N|
C4722425|While resting or going to sleep, sees visions, smells odors or hears voices, sounds, or whispers in the absence of external stimulation, but no impairment in functioning.|NCI|N|
C4722438|An adverse event in a newborn characterized by crying easily and difficulty consoling.|NCI|N|
C4722444|Interactions between patients and providers within the context of healthcare delivery.|NCI|N|
C4722446|MMERV is an episodic acute reversible encephalopathy that occurs in children and is frequently associated with a trigger, such as a febrile illness. Affected individuals have impaired consciousness, delirious behavior, and/or seizures with lip smacking or eye deviation. These changes are associated with white matter lesions in the brain that often occur in the splenium of the corpus callosum, but may occur in surrounding areas. The acute phase of the disorder can be treated with steroids, and most patients make a full neurologic recovery between episodes with no sequelae (summary by Kurahashi et al., 2018).|OMIM|N|
C4722451|An adverse event in a newborn characterized by elevation of body temperature above normal due to the production of more heat than the body is able to dissipate.|NCI|N|
C4722463|A death attributed to the progression of a cancer-related pathologic condition.|NCI|N|
C4722466|Experiences verbal or visual hallucinations several times a day, or many areas of functioning are disrupted by these hallucinations.|NCI|N|
C4722480|A rare hereditary immune deficiency with skin involvement characterised by early-onset cold urticaria after generalised exposure to cold air or evaporative cooling and not after contact with cold objects. Additional immunologic abnormalities are often present - antibody deficiency, recurrent infections, autoimmune disease and symptomatic allergic disease. Caused by heterozygous deletion within the PLCG2 gene on chromosome 16q23.|SNOMEDCT_US|N|
C4722488|Reduced response to thyroid stimulating hormone resulting in low thyroid hormone production despite elevated thyroid stimulating hormone, associated with mutation(s) in the TSHR gene.|NCI|N|
C4722518|An invasive breast carcinoma which is negative for expression of estrogen receptor (ER), progesterone receptor (PR), and human epidermal growth factor receptor 2 (HER2).|NCI|N|
C4722524|A neoplasm arising from arteries or veins.|NCI|N|
C4722564|Epidermodysplasia verruciformis (EV) is a rare genodermatosis associated with a high risk of skin cancer. EV results from an abnormal susceptibility to specific related human papillomavirus (HPV) genotypes and to the oncogenic potential of some of them, mainly HPV5. Infection with EV-associated HPV leads to the early development of disseminated flat wart-like and pityriasis versicolor-like lesions. Patients are unable to reject their lesions, and cutaneous Bowen carcinomas in situ and invasive squamous cell carcinomas develop in about half of them, mainly on sun-exposed areas (summary by Ramoz et al., 2000).
Genetic Heterogeneity of Susceptibility to Epidermodysplasia Verruciformis
Susceptibility to EV2 (618231) is conferred by mutation in the TMC8 gene (605829) on chromosome 17q25; EV3 (618267) by mutation in the CIB1 gene (602293) on chromosome 15q26; EV4 (618307) by mutation in the RHOH gene (602037) on chromosome 4p13; and EV5 (618309) by mutation in the IL7 gene (146660) on chromosome 8q12.|OMIM|N|
C4722602|Situated beneath, or the basic or root cause of something.|NCI|N|
C4723619|An ependymoma that arises from the brain.|NCI|N|
C4723745|An adverse event in a newborn characterized by a form of cerebral white matter injury usually seen in preterm infants that is characterized by necrotic degeneration or gliosis of white matter adjacent to the cerebral ventricles that may evolve into focal cysts.|NCI|N|
C4723746|An autosomal recessive condition caused by mutation(s) in the PEX1 gene, encoding peroxisome biogenesis factor 1. Peroxisome biogenesis disorder 1B is characterized by overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease.|NCI|N|
C4723747|An adverse event in a newborn characterized by elevated pulmonary vascular pressure in a neonate.|NCI|N|
C4723768|A malignant sex cord/stromal neoplasm characterized by densely packed fusiform theca cells arranged in interlacing bundles and whorls giving a nodular appearance. (INHAND)|NCI|N|
C4723835|Decrease in tumor burden greater than or equal to 50 percent relative to baseline confirmed by a consecutive assessment at least 4 weeks after first documentation.|NCI|N|
C4723836|A subjective score of 4 on a confidence scale that ranges from 1: Not at all confident to 5: Very confident.|NCI|N|
C4723837|A subjective score of 0 on a scale that ranges from 0: Not at all important to 10: Extremely important.|NCI|N|
C4723838|A carcinoma that arises from the breast and has metastasized to another anatomic site.|NCI|N|
C4723839|Increase in tumor burden greater than or equal to 25 percent relative to nadir (minimum recorded tumor burden); confirmation by a repeat, consecutive assessment no less than 4 weeks from the date first documented.|NCI|N|
C4723840|A change in the sequence of the H3-3A gene.|NCI|N|
C4723841|A change in the sequence of the HIST1H3B gene.|NCI|N|
C4723842|A change in the nucleotide sequence of the XK gene.|NCI|N|
C4723843|A change in the nucleotide sequence of the NLRP1 gene.|NCI|N|
C4724041|Not meeting criteria for irCR or irPR, in absence of irPD.|NCI|N|
C4724044|A lymphoma response that cannot be distinguished between flare/pseudo-progression and true progressive disease.|NCI|N|
C4724045|A subjective score of 2 on a confidence scale that ranges from 1: Not at all confident to 5: Very confident.|NCI|N|
C4724085|An adverse event in newborns characterized by extensive mucosal ulceration, pseudomembrane formation, submucosal hemorrhage, and necrosis in the intestines .|NCI|N|
C4724097|A teratoma that arises from the ovary. It is composed exclusively of immature tissue elements.|NCI|N|
C4724129|A response that indicates the patient used a non-opioid analgesic.|NCI|N|
C4724136|A subjective score of 2 on a scale that ranges from 1: Strongly Disagree to 7: Strongly Agree, with 4: Neutral.|NCI|N|
C4724137|A subjective score of 2 on a scale that ranges from 1: Strongly Disagree to 6: Strongly Agree.|NCI|N|
C4724138|A subjective score of 6 on a scale that ranges from 1: Strongly Disagree to 6: Strongly Agree.|NCI|N|
C4724139|A subjective score of 6 on a scale that ranges from 1: Strongly Disagree to 7: Strongly Agree, with 4: Neutral.|NCI|N|
C4724140|A molecular genetic abnormality indicating the presence of multiple copies of the FGF19 gene.|NCI|N|
C4724141|A molecular genetic abnormality indicating the presence of multiple copies of the FGF1 gene.|NCI|N|
C4724158|An adverse event in a newborn characterized by injury to the central nervous system that occurs when there is insufficient delivery of oxygen to all or part of the brain.|NCI|N|
C4724161|A carcinoma that arises from the fallopian tube and has metastasized to another anatomic site.|NCI|N|
C4724168|An aggressive non-Hodgkin lymphoma that has recurred after a period of remission.|NCI|N|
C4724169|The reemergence of visual pathway glioma after a period of remission.|NCI|N|
C4724175|A response indicating no difference in likelihood.|NCI|N|
C4724176|A change in the nucleotide sequence of an NTRK family gene.|NCI|N|
C4724177|A change in the nucleotide sequence of the NTRK1 gene.|NCI|N|
C4724181|A molecular abnormality indicating rearrangement of a T-cell receptor (TCR) family gene.|NCI|N|
C4724202|An adverse event in a newborn characterized by inability to achieve a full feeding volume.|NCI|N|
C4724211|A change in the nucleotide sequence of the PIK3CB gene that results in constitutive activation of phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit beta isoform and its downstream signaling pathways.|NCI|N|
C4724212|A subjective score of 3 on a scale that ranges from 1: Strongly Disagree to 6: Strongly Agree.|NCI|N|
C4724213|A subjective score of 3 on a scale that ranges from 1: Strongly Disagree to 7: Strongly Agree, with 4: Neutral.|NCI|N|
C4724255|An adverse event in a newborn characterized by abnormally high blood pressure.|NCI|N|
C4724256|An adverse event in a newborn characterized by progressive alveolar atelectasis from birth due to an abnormality of synthesis, function or metabolism of surfactant, characterized by respiratory failure and an abnormal chest radiograph showing diffuse reticulogranular densities and air bronchograms.|NCI|N|
C4724275|A subjective score of 1 on a confidence scale that ranges from 1: Not at all confident to 5: Very confident.|NCI|N|
C4724276|A subjective score of 1 on a scale that ranges from 0: Not at all important to 10: Extremely important.|NCI|N|
C4724389|A laboratory test result indicating that a previously latent cytomegalovirus infection has become an active infection.|NCI|N|
C4724390|A subjective score of 5 on a scale that ranges from 1: Strongly Disagree to 6: Strongly Agree.|NCI|N|
C4724391|A subjective score of 5 on a scale that ranges from 1: Strongly Disagree to 7: Strongly Agree, with 4: Neutral.|NCI|N|
C4724394|Soft tissue sarcoma that has spread from the original site of growth to another anatomic site.|NCI|N|
C4724395|A squamous cell carcinoma of the nasopharynx which has spread from the original site of growth to another anatomic site.|NCI|N|
C4724446|Complete disappearance of all lesions (whether measurable or not, and no new lesions); confirmation by a repeat, consecutive assessment no less than 4 weeks from the date first documented.|NCI|N|
C4724450|A subjective score of 2 on a scale that ranges from 0: Not at all important to 10: Extremely important.|NCI|N|
C4724451|The reemergence of T-acute lymphoblastic leukemia after a period of remission.|NCI|N|
C4724500|A subjective score of 3 on a confidence scale that ranges from 1: Not at all confident to 5: Very confident.|NCI|N|
C4724501|A subjective score of 3 on a scale that ranges from 0: Not at all important to 10: Extremely important.|NCI|N|
C4724502|A subjective score of 4 on a scale that ranges from 0: Not at all important to 10: Extremely important.|NCI|N|
C4724503|The reemergence of myelodysplastic syndrome after a period of remission.|NCI|N|
C4724504|A semi-quantitative microscopic finding indicating that more than 60 percent of the nucleated cells in a peripheral leukocyte sample are immature mononuclear cells.|NCI|N|
C4724505|A semi-quantitative microscopic finding indicating that more than 60 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.|NCI|N|
C4724518|A subjective score of 5 on a confidence scale that ranges from 1: Not at all confident to 5: Very confident.|NCI|N|
C4724520|A subjective score of 1 on a scale that ranges from 1: Strongly Disagree to 6: Strongly Agree.|NCI|N|
C4724521|A subjective score of 1 on a scale that ranges from 1: Strongly Disagree to 7: Strongly Agree, with 4: Neutral.|NCI|N|
C4724522|A subjective score of 4 on a scale that ranges from 1: Strongly Disagree to 6: Strongly Agree.|NCI|N|
C4724523|A subjective score of 4 (neutral) on a scale that ranges from 1: Strongly Disagree to 7: Strongly Agree, with 4: Neutral.|NCI|N|
C4724556|An increase in overall tumor burden of greater than or equal to 50 percent of up to six measurable lesions in the first 12 weeks of therapy, without clinical deterioration.|NCI|N|
C4724714|Langerhans cell histiocytosis presenting with disseminated disease.|NCI|N|
C4724729|A mucoepidermoid carcinoma that arises from the oral cavity and has metastasized to another anatomic site.|NCI|N|
C4724819|A change in the nucleotide sequence of the FGF1 gene.|NCI|N|
C4724820|A change in the nucleotide sequence of the FGF3 gene.|NCI|N|
C4724826|A molecular genetic abnormality indicating the presence of multiple copies of the PDGFA gene.|NCI|N|
C4724827|A molecular genetic abnormality indicating the presence of multiple copies of the PDGFB gene.|NCI|N|
C4724828|A change in the nucleotide sequence of the PDGFA gene.|NCI|N|
C4724829|A change in the nucleotide sequence of the PDGFB gene.|NCI|N|
C4724830|Carcinoma that is not amenable to surgical resection.|NCI|N|
C4724831|A thymic carcinoma that is not amenable to surgical resection.|NCI|N|
C4724832|A thymic carcinoma that has spread from its original site of growth to nearby tissues or lymph nodes.|NCI|N|
C4724833|Thymic carcinoma that has recurred after a period of remission.|NCI|N|
C4724834|A carcinoma that has spread from its original site of growth to nearby tissues or lymph nodes.|NCI|N|
C4724852|An indication that Child-Pugh scores ranging from A (scores 5 or 6) to B7 (score 7) for liver cirrhosis will be considered for trial inclusion.|NCI|N|
C4724853|A head and neck squamous cell carcinoma that does not respond to treatment.|NCI|N|
C4724873|Thymic carcinoma that does not respond to treatment.|NCI|N|
C4724875|Indolent adult non-Hodgkin lymphoma that is resistant to treatment.|NCI|N|
C4724923|A response indicating that aspects of an individual''s life are or were very much disrupted.|NCI|N|
C4724929|The reemergence of grade 3a follicular lymphoma after a period of remission.|NCI|N|
C4724930|A skin melanoma that is not amenable to surgical resection.|NCI|N|
C4724936|A response indicating that an individual is working full time.|NCI|N|
C4724937|A response indicating that an individual is working part time.|NCI|N|
C4724938|A response indicating that an individual is on sick or disability leave from work.|NCI|N|
C4724939|A response indicating that an individual is unemployed due to quitting, being fired, or retirement.|NCI|N|
C4724940|A response indicating that an individual does not currently work.|NCI|N|
C4724952|An indication of the total number of prostate core specimens collected during a biopsy procedure.|NCI|N|
C4724953|An indication of the number of prostate core specimens that are identified as positive for carcinoma.|NCI|N|
C4724954|An indication of the percentage of cancerous cells present in the tissue core with the greatest amount of tumor involvement.|NCI|N|
C4724957|A change in the nucleotide sequence of the TET2 gene.|NCI|N|
C4724959|Stage 0 bladder cancer defined according to the AJCC v6 and v7 criteria that is resistant to treatment.|NCI|N|
C4724960|A semi-quantitative microscopic finding indicating that more than 25 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.|NCI|N|
C4724965|Leiomyosarcoma that does not respond to treatment.|NCI|N|
C4724966|Undifferentiated pleomorphic sarcoma that does not respond to treatment.|NCI|N|
C4724967|Synovial sarcoma that does not respond to treatment.|NCI|N|
C4724968|Myxoid liposarcoma that does not respond to treatment.|NCI|N|
C4724969|Round cell liposarcoma that does not respond to treatment.|NCI|N|
C4724970|Round cell liposarcoma that has spread to other anatomic sites.|NCI|N|
C4724971|A sarcoma that does not respond to treatment.|NCI|N|
C4724972|The reemergence of sarcoma after a period of remission.|NCI|N|
C4724973|A finding indicating that a metastatic tumor is not amenable to surgical resection.|NCI|N|
C4724974|A maternally inherited form of nonsyndromic sensorineural deafness that is caused by a mutation in any of several mitochondrial genes.|NCI|N|
C4724975|A condition characterized by elevated concentrations of creatine kinase in the blood. It is one of a group of conditions caused by mutation(s) in the CAV3 gene, encoding caveolin-3. Isolated hyperCKmia has no other associated manifestations.|NCI|N|
C4724976|A sarcoma which is not amenable to surgical resection.|NCI|N|
C4724986|Myelodysplastic syndrome that does not respond to treatment.|NCI|N|
C4724990|Hypopharyngeal squamous cell carcinoma that does not respond to treatment.|NCI|N|
C4724991|Laryngeal squamous cell carcinoma that does not respond to treatment.|NCI|N|
C4724992|Oral cavity squamous cell carcinoma that does not respond to treatment.|NCI|N|
C4724993|Oropharyngeal squamous cell carcinoma that does not respond to treatment.|NCI|N|
C4724994|Paranasal sinus squamous cell carcinoma that does not respond to treatment.|NCI|N|
C4724995|The reemergence of paranasal sinus squamous cell carcinoma after a period of remission.|NCI|N|
C4724996|A molecular genetic abnormality indicating the presence of a fusion gene involving sequences derived from the BCL6 gene.|NCI|N|
C4724997|A change in the nucleotide sequence of the NOTCH2 gene.|NCI|N|
C4724998|A change in the nucleotide sequence of the CD79B gene.|NCI|N|
C4725000|Molecular subtyping of diffuse large B-cell lymphomas (DLBCL) based on structural genomic abnormalities and gene expression data obtained from biopsy samples. The molecular analysis revealed four subtypes of DLBCL (MCD, BN2, N1, and EZB) which have distinct genotypic, epigenetic, and clinical characteristics. (NEJM 2018; 378: 1396-407)|NCI|N|
C4725002|A diffuse large B-cell lymphoma molecular subtype characterized by the co-occurrence of MYD88 and CD79B gene mutations. Patients who belong in this subtype have an inferior outcome. (NEJM 2018; 378: 1396-407)|NCI|N|
C4725003|A diffuse large B-cell lymphoma molecular subtype characterized by the presence of BCL6 gene fusions and NOTCH2 gene mutations. Patients who belong in this subtype have a favorable outcome. (NEJM 2018; 378: 1396-407)|NCI|N|
C4725004|A diffuse large B-cell lymphoma molecular subtype characterized by the presence of NOTCH1 gene mutations. Patients who belong in this subtype have an inferior outcome. (NEJM 2018; 378: 1396-407)|NCI|N|
C4725006|A diffuse large B-cell lymphoma molecular subtype characterized by the presence of EZH2 gene mutations and BCL2 gene translocations. Patients who belong in this subtype have a favorable outcome. (NEJM 2018; 378: 1396-407)|NCI|N|
C4725008|Nasal cavity and paranasal sinus squamous cell carcinoma that does not respond to treatment.|NCI|N|
C4725011|A molecular genetic abnormality indicating the presence of multiple copies of a PDGFR family gene.|NCI|N|
C4725012|A molecular abnormality indicating the presence of an abnormally high level of a platelet-derived growth factor receptor family protein.|NCI|N|
C4725020|Findings indicating moderate impairment of liver function.|NCI|N|
C4725023|The reemergence of mixed phenotype acute leukemia after a period of remission.|NCI|N|
C4725024|Leukemia that is resistant to treatment.|NCI|N|
C4725025|The reemergence of acute leukemia after a period of remission.|NCI|N|
C4725026|Mixed phenotype acute leukemia that does not respond to treatment.|NCI|N|
C4725027|Acute leukemia that does not respond to treatment.|NCI|N|
C4725028|Intrahepatic cholangiocarcinoma that is not amenable to surgical removal.|NCI|N|
C4725030|Nasopharyngeal carcinoma that is resistant to treatment.|NCI|N|
C4725034|A change in the nucleotide sequence of the CD274 gene.|NCI|N|
C4725047|A finding indicating the presence of a sarcoma arising from the soft tissue, other than rhabdomyosarcoma.|NCI|N|
C4725048|A finding indicating the reemergence of a sarcoma arising from the soft tissue, other than rhabdomyosarcoma, after a period of remission.|NCI|N|
C4725053|A response indicating that an individual feels or felt that their health concerns were understood.|NCI|N|
C4725054|A response indicating that an individual feels or felt that they were treated with courtesy and respect.|NCI|N|
C4725055|A response indicating that an individual feels or felt included in decisions about their health.|NCI|N|
C4725056|A response indicating that an individual was told how to take care of themselves.|NCI|N|
C4725057|A response indicating that an individual feels or felt encouraged to talk about their personal health concerns.|NCI|N|
C4725058|A response indicating that an individual feels or felt that they had enough time with their doctor.|NCI|N|
C4725059|A response indicating that an individual feels or felt that their questions were answered to their satisfaction.|NCI|N|
C4725060|A response indicating that an individual feels or felt that making an appointment was easy.|NCI|N|
C4725061|A response indicating that an individual knew what the next steps in their care would be.|NCI|N|
C4725062|A response indicating that an individual feels or felt confident in how they dealt with the health care system.|NCI|N|
C4725063|A response indicating that an individual was able to get the advice they needed about their health issues.|NCI|N|
C4725064|A response indicating that an individual knows who to contact when they have a question.|NCI|N|
C4725076|Urothelial carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C4725077|Melanoma that has spread from its original site of growth to nearby tissues or lymph nodes.|NCI|N|
C4725087|The reemergence of human papillomavirus-related malignant neoplasm after a period of remission.|NCI|N|
C4725089|Human papillomavirus-related malignant neoplasm that does not respond to treatment.|NCI|N|
C4725091|Uveal melanoma that has spread from its primary site to another anatomic site.|NCI|N|
C4725092|Uveal melanoma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C4725093|Melanoma which is not amenable to surgical resection.|NCI|N|
C4725110|Advanced prostatic carcinoma which was not previously treated with androgen-deprivation therapy.|NCI|N|
C4725114|A finding indicating that an advanced prostate carcinoma was not previously treated with androgen-deprivation therapy.|NCI|N|
C4725175|Acute pulmonary embolism with evidence of right ventricular dysfunction, but not associated with systemic hypotension.|NCI|N|
C4725180|A change in the nucleotide sequence of an exon in a gene.|NCI|N|
C4725181|The mutation of either a splice site or stop codon that leads to an extended transcript.|NCI|N|
C4725182|The mutation of either a splice site or stop codon that leads to a truncated transcript.|NCI|N|
C4725183|A change in the nucleotide sequence of a region between gene loci.|NCI|N|
C4725184|A mutation occurring in a sequence that regulates non-sense mediated mRNA decay.|NCI|N|
C4725185|A change in the nucleotide sequence of a non-coding gene.|NCI|N|
C4725186|A change in the nucleotide sequence of an exon in a non-coding gene.|NCI|N|
C4725187|A change in the nucleotide sequence of a regulatory region for a gene.|NCI|N|
C4725188|A deletion mutation where the deleted sequence includes a regulatory region for a gene.|NCI|N|
C4725189|An increase in the copy number of a region containing a regulatory sequence for a gene.|NCI|N|
C4725190|A mutation occurring within the start codon of a gene that results in a sequence that no longer encodes a start codon. This can result in a gene deletion or gene transcription may start from an alternative start site.|NCI|N|
C4725191|A mutation occurring within the stop codon of a gene that results in a sequence that no longer encodes a stop codon and results in the transcription of non-coding regions downstream of the gene.|NCI|N|
C4725192|A mutation occurring within the stop codon of a gene, which still encodes a stop codon.|NCI|N|
C4725193|A change in the nucleotide sequence of a transcription factor binding site for a gene.|NCI|N|
C4725194|A deletion mutation where the deleted sequence includes a transcription factor binding site for a gene.|NCI|N|
C4725594|An adenocarcinoma that arises from the thoracic esophagus.|NCI|N|
C4725595|A squamous cell carcinoma that arises from the thoracic esophagus.|NCI|N|
C4725596|An adenocarcinoma that arises from the cervical esophagus.|NCI|N|
C4725597|A squamous cell carcinoma that arises from the cervical esophagus.|NCI|N|
C4725598|A squamous cell carcinoma that arises from the gastric cardia.|NCI|N|
C4725599|A squamous cell carcinoma that arises from the distal esophagus.|NCI|N|
C4725601|The reemergence of chronic leukemia after a period of remission.|NCI|N|
C4725602|Chronic leukemia that is resistant to treatment.|NCI|N|
C4725603|Chronic myelomonocytic leukemia that is resistant to treatment.|NCI|N|
C4725607|A response indicating that an individual feels or felt that they received all the services they needed.|NCI|N|
C4725608|A response indicating that an individual feels or felt that doctors seemed to communicate well about their care.|NCI|N|
C4725609|A response indicating that an individual feels or felt that they received high quality care from their regular doctor.|NCI|N|
C4725610|A response indicating that an individual feels or felt that they received high quality care from their specialists.|NCI|N|
C4725611|A response indicating that an individual feels or felt that their regular doctor was informed about the results of the test they got.|NCI|N|
C4725612|Ovarian carcinoma that is resistant to treatment.|NCI|N|
C4725614|Endometrial carcinoma that is resistant to treatment|NCI|N|
C4725615|The reemergence of ovarian endometrioid adenocarcinoma after a period of remission.|NCI|N|
C4725616|Ovarian endometrioid adenocarcinoma that is resistant to treatment.|NCI|N|
C4725617|The reemergence of endometrial endometrioid adenocarcinoma after a period of remission.|NCI|N|
C4725618|Endometrial endometrioid adenocarcinoma that is resistant to treatment.|NCI|N|
C4725623|A finding indicating that a myeloproliferative process has high-grade pathologic and/or clinical features.|NCI|N|
C4725627|The total number of genomic alterations found in the cells of a cancer.|NCI|N|
C4725629|A melanoma that originates from melanocytes of the uveal tract and has spread to the liver.|NCI|N|
C4725630|The reemergence of monomorphic epitheliotropic intestinal T-cell lymphoma after a period of remission.|NCI|N|
C4725631|The reemergence of T-cell prolymphocytic leukemia after a period of remission.|NCI|N|
C4725634|An indication that an individual''s anxiety symptoms are or were clinically significant.|NCI|N|
C4725635|An indication that an individual''s depressive symptoms are or were clinically significant.|NCI|N|
C4725639|A change in the nucleotide sequence of the ATR gene that is associated with increased risk of disease.|NCI|N|
C4725640|A change in the nucleotide sequence of the FANCA gene that is associated with increased risk of disease.|NCI|N|
C4725641|A change in the nucleotide sequence of the FANCC gene that is associated with increased risk of disease.|NCI|N|
C4725642|A change in the nucleotide sequence of the FANCD2 gene that is associated with increased risk of disease.|NCI|N|
C4725643|A change in the nucleotide sequence of the FANCE gene that is associated with increased risk of disease.|NCI|N|
C4725644|A change in the nucleotide sequence of the FANCF gene that is associated with increased risk of disease.|NCI|N|
C4725645|A change in the nucleotide sequence of the FANCM gene that is associated with increased risk of disease.|NCI|N|
C4725646|A change in the nucleotide sequence of the MRE11 gene that is associated with increased risk of disease.|NCI|N|
C4725647|A change in the nucleotide sequence of the NBN gene that is associated with increased risk of disease.|NCI|N|
C4725648|A change in the nucleotide sequence of the RAD50 gene that is associated with increased risk of disease.|NCI|N|
C4725662|A squamous cell carcinoma of the oropharynx that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C4725671|Neuroblastoma usually presenting with metastatic disease and MYCN gene amplifications.|NCI|N|
C4725672|A finding indicating that a disease has affected the medullary bone and is resistant to treatment.|NCI|N|
C4725675|Bladder carcinoma that does not respond to treatment.|NCI|N|
C4725678|Non-hereditary renal cell carcinoma arising from a kidney and detected in the other kidney within six months of the first primary. The majority are clear cell renal cell carcinomas.|NCI|N|
C4725679|Stage 3 chronic kidney disease that was diagnosed or treated before a specific date.|NCI|N|
C4725681|Urothelial carcinoma that does not respond to treatment.|NCI|N|
C4725682|Urothelial carcinoma that is resistant to platinum therapy.|NCI|N|
C4725683|The number of prostate core biopsy samples positive for carcinoma divided by the total number of prostate core samples.|NCI|N|
C4725697|A finding indicating the presence of fibrinous material in a surgical pathology specimen.|NCI|N|
C4725699|An unusual form of diffuse large B-cell lymphoma. It is not mass-forming and does not directly produce symptoms, but it is discovered incidentally on histological examination of surgical pathology specimens, excised for various pathologies other than lymphoma. The specimens typically contain fibrinous materials. Single and small aggregates of large lymphoma cells are found in only small foci within the fibrinous or amorphous material. EBV is positive, with type III latency. The clinical outcome is highly favorable, even with surgical excision alone. (WHO 2017)|NCI|N|
C4725702|A lymphoproliferative disorder caused by the human herpesvirus HHV8. This category includes HHV8-positive multicentric Castleman disease, HHV8-positive diffuse large B-cell lymphoma, not otherwise specified, and germinotropic lymphoproliferative disorders.|NCI|N|
C4725706|A monotypic HHV8-positive lymphoproliferative disorder that usually occurs in HIV-negative individuals. It is characterized by the presence of HHV8-positive plasmablasts partially or completely replacing germinal centers. Coinfection with EBV is characteristic. In most cases, there is a favorable response to chemotherapy or radiation. (WHO 2017)|NCI|N|
C4725707|A rare HHV8-positive B-cell lymphoma indistinguishable from primary effusion lymphoma presenting as solid tumor mass. (WHO 2017)|NCI|N|
C4725708|A large B-cell lymphoma presenting as a serous effusion without detectable tumor masses. It is universally associated with human herpes virus 8 (HHV8), also called Kaposi sarcoma-associated herpesvirus. It mostly occurs in the setting of immunodeficiency. The most common sites of involvement are the pleural, pericardial, and peritoneal cavities. (WHO 2017)|NCI|N|
C4725718|A semi-quantitative microscopic finding indicating that less than 5 percent of the nucleated cells in a bone marrow sample are neoplastic plasma cells.|NCI|N|
C4725726|A molecular abnormality that results in monoallelic loss of function mutations located within 9p21.|NCI|N|
C4725727|A change in the nucleotide sequence of the ABL2 gene.|NCI|N|
C4725728|A change in the nucleotide sequence of the CD79A gene.|NCI|N|
C4725729|A change in the nucleotide sequence of the CD79A gene that that results in constitutive activation of B-cell antigen receptor complex-associated protein alpha chain and its downstream signaling pathways.|NCI|N|
C4725730|A change in the nucleotide sequence of the CD79B gene that that results in constitutive activation of B-cell antigen receptor complex-associated protein beta chain and its downstream signaling pathways.|NCI|N|
C4725731|A change in the nucleotide sequence of the ALK portion of the EML4/ALK fusion gene that that results in constitutive activation of the EML4/ALK fusion protein and its downstream signaling pathways. These mutations are associated with increased oncogenic potential.|NCI|N|
C4725732|A fusion mutation involving an NTRK family gene that causes the encoded receptor tyrosine kinase and its downstream pathways to be constitutively activated.|NCI|N|
C4725733|A point mutation in an NTRK family gene that causes the encoded receptor tyrosine kinase and its downstream pathways to be constitutively activated.|NCI|N|
C4725734|A change in the nucleotide sequence of the ACVR1B gene.|NCI|N|
C4725735|A molecular abnormality indicating rearrangement of the AKT1 gene.|NCI|N|
C4725736|A change in the nucleotide sequence of the AKT3 gene.|NCI|N|
C4725739|A finding indicating that the expression of ATM in a tumor sample is aberrantly low or undetectable.|NCI|N|
C4725740|A change in the nucleotide sequence of the BAP1 gene that either inhibits expression or results in the translation of an inactive ubiquitin carboxyl-terminal hydrolase BAP1 protein.|NCI|N|
C4725743|A semi-quantitative microscopic finding indicating that between 20 and 30 percent of the nucleated cells in a peripheral leukocyte sample are immature mononuclear cells.|NCI|N|
C4725744|A semi-quantitative microscopic finding indicating that 30 percent or more of the nucleated cells in a bone marrow sample are immature mononuclear cells.|NCI|N|
C4725745|A semi-quantitative microscopic finding indicating that 5 percent or less of the nucleated cells in a peripheral leukocyte sample are immature mononuclear cells.|NCI|N|
C4725748|A semi-quantitative microscopic finding indicating that more than 10 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.|NCI|N|
C4725749|A semi-quantitative microscopic finding indicating that more than 10 percent of the nucleated cells in a peripheral leukocyte sample are immature mononuclear cells.|NCI|N|
C4725750|A quantitative microscopic finding indicating that more than 10000 of the total number of nucleated cells in a peripheral leukocyte sample are immature mononuclear cells.|NCI|N|
C4725751|A semi-quantitative microscopic finding indicating that more than 20 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.|NCI|N|
C4725752|A semi-quantitative microscopic finding indicating that more than 20 percent of the nucleated cells in a peripheral leukocyte sample are immature mononuclear cells.|NCI|N|
C4725762|A change in the nucleotide sequence of the CDH1 gene.|NCI|N|
C4725763|A change in the nucleotide sequence of the CDK4 gene.|NCI|N|
C4725764|A change in the nucleotide sequence of the CDKN1A gene.|NCI|N|
C4725765|A change in the nucleotide sequence of the CDKN1B gene.|NCI|N|
C4725766|A change in the nucleotide sequence of the CHD4 gene.|NCI|N|
C4725767|A rearrangement of genomic material involving chromosome 5.|NCI|N|
C4725768|A rearrangement of genomic material involving chromosome 7.|NCI|N|
C4725772|An EBV-positive NK-cell lymphoproliferative disorder characterized by high fever and intense local skin symptoms, including erythema, bullae, ulcers, skin necrosis, and deep scarring following mosquito bites. Patients have NK-cell lymphocytosis in the peripheral blood and an increased risk of developing hemophagocytic syndrome and progressing into overt NK/T-cell lymphoma or aggressive NK-cell leukemia in the longstanding clinical course. (WHO 2017)|NCI|N|
C4725774|A change in the nucleotide sequence of the CRLF2 gene.|NCI|N|
C4725776|A change in the nucleotide sequence of the CXCR4 gene.|NCI|N|
C4725777|A change in the nucleotide sequence of the CYLD gene.|NCI|N|
C4725778|A change in the nucleotide sequence of the IKZF1 gene that is associated with increased risk of disease.|NCI|N|
C4725779|A change in the nucleotide sequence of the DNMT3A gene.|NCI|N|
C4725781|A change in the nucleotide sequence of the EGFR gene that is associated with increased risk of disease.|NCI|N|
C4725783|A change in the nucleotide sequence of the EP300 gene.|NCI|N|
C4725785|A monomorphic epitheliotropic intestinal T-cell lymphoma arising from the small intestine. It is characterized by the presence of a monomorphic cellular infiltrate of small to medium-sized T-lymphocytes that are cytotoxic and express CD56. It is not associated with celiac disease.|NCI|N|
C4725786|A T-cell lymphoma arising in the intestines, or sometimes other sites in the gastrointestinal tract, that does not conform to either classic enteropathy-associated T-cell lymphoma or monomorphic epitheliotropic intestinal T-cell lymphoma. (WHO 2017)|NCI|N|
C4725790|T-acute lymphoblastic leukemia that does not respond to treatment.|NCI|N|
C4725792|Urethral urothelial carcinoma that has spread to another anatomical site.|NCI|N|
C4725793|Bladder urothelial carcinoma that has spread to another anatomical site.|NCI|N|
C4725794|Renal pelvis urothelial carcinoma that has spread to another anatomical site.|NCI|N|
C4725797|The reemergence of renal pelvis urothelial carcinoma after a period of remission.|NCI|N|
C4725798|Any change in the nucleotide sequence of a gene involved in DNA damage response pathways.|NCI|N|
C4725799|Urothelial carcinoma that is not amenable to surgical resection.|NCI|N|
C4725801|Reemergence of a malignant bone neoplasm after a period of remission.|NCI|N|
C4725802|Malignant bone neoplasm that is resistant to treatment.|NCI|N|
C4725803|The reemergence of a malignant female reproductive system neoplasm after a period of remission.|NCI|N|
C4725804|Reemergence of a malignant neoplasm of multiple primary sites after a period of remission.|NCI|N|
C4725805|Malignant neoplasm of multiple primary sites that is resistant to treatment.|NCI|N|
C4725806|Lip or oral cavity malignant neoplasm that is resistant to treatment.|NCI|N|
C4725807|Reemergence of a malignant pharyngeal neoplasm after a period of remission.|NCI|N|
C4725808|Malignant pharyngeal neoplasm that is resistant to treatment.|NCI|N|
C4725809|The reemergence of a malignant male reproductive system neoplasm after a period of remission.|NCI|N|
C4725810|Malignant male reproductive system neoplasm that is resistant to treatment.|NCI|N|
C4725811|Malignant mesothelioma that is resistant to treatment.|NCI|N|
C4725812|Reemergence of a malignant soft tissue neoplasm after a period of remission.|NCI|N|
C4725813|Malignant soft tissue neoplasm that is resistant to treatment.|NCI|N|
C4725814|The reemergence of malignant thyroid gland neoplasm after a period of remission.|NCI|N|
C4725815|Malignant thyroid gland neoplasm that is resistant to treatment.|NCI|N|
C4725816|Reemergence of a malignant endocrine neoplasm after a period of remission.|NCI|N|
C4725817|Malignant endocrine neoplasm that is resistant to treatment.|NCI|N|
C4725818|Reemergence of a malignant urinary system neoplasm after a period of remission.|NCI|N|
C4725819|Malignant urinary system neoplasm that is resistant to treatment.|NCI|N|
C4725820|Reemergence of a malignant skin neoplasm after a period of remission.|NCI|N|
C4725821|Malignant skin neoplasm that is resistant to treatment.|NCI|N|
C4725830|A prostate adenocarcinoma characterized by the absence of focal or diffuse neuroendocrine differentiation.|NCI|N|
C4725833|Persistence of one or more non-target lesions.|NCI|N|
C4725837|A morphologic finding indicating the presence of a lymphoplasmacytic infiltrate in the bone marrow, comprising less than 10% of the cellular population.|NCI|N|
C4725840|A morphologic finding indicating the presence of a malignant cellular infiltrate invading muscle in a tissue sample.|NCI|N|
C4725841|A carcinoma that arises from the bladder mucosa and invades the muscle of the bladder wall.|NCI|N|
C4725842|A cerebral neoplasm that is confined to a specific site without evidence of spread to other anatomic sites.|NCI|N|
C4725845|Gastroesophageal junction adenocarcinoma which has spread from its original site of growth to another anatomic site.|NCI|N|
C4725846|Gastroesophageal junction adenocarcinoma that is not amenable to surgical resection.|NCI|N|
C4725847|The reemergence of myxoid liposarcoma after a period of remission.|NCI|N|
C4725848|Adrenal cortical carcinoma that is not amenable to surgical resection.|NCI|N|
C4725849|The presence of mutations in both alleles of the PALB2 gene that either lead to loss of expression of the PALB2 protein or result in the translation of an inactive PALB2 protein.|NCI|N|
C4725850|The presence of mutations in both alleles of the FANCA gene that either lead to loss of expression of the FANCA protein or result in the translation of an inactive FANCA protein.|NCI|N|
C4725851|The presence of mutations in only one allele of the ATM gene that either lead to decreased of expression of the ATM protein or result in the translation of an inactive and potentially dominant-negative form of the ATM protein.|NCI|N|
C4725854|The disappearance of all signs of leukemia in response to treatment with residual neutropenia (less than 1,000 per microliter), with or without complete platelet recovery.|NCI|N|
C4725855|Monoclonal gammopathy of undetermined significance defined by the presence in the serum of an IgG, IgA, or (rarely) IgD paraprotein at a concentration of less than 30g/L; clonal bone marrow plasma cells less than 10%; and absence of end-organ damage such as hypercalcemia, renal insufficiency, anemia, bone marrow lesions, and amyloidosis attributable to the plasma cell proliferative disorder. The risk of progression to plasma cell myeloma, light-chain amyloidosis, or a related disorder is 1% per year. (WHO 2017)|NCI|N|
C4725856|A distinctive variant of follicular lymphoma arising from the testis. It has been reported with higher frequency in children, but is also seen rarely in adults. It differs biologically from nodal follicular lymphoma because it lacks evidence of the BCL2 translocation. It is usually of high cytological grade, usually grade 3A, but has a good prognosis, even without additional therapy beyond surgical excision. (WHO 2017)|NCI|N|
C4725858|The reemergence of dedifferentiated liposarcoma after a period of remission.|NCI|N|
C4725859|Dedifferentiated liposarcoma that does not respond to treatment.|NCI|N|
C4725860|Liposarcoma that does not respond to treatment.|NCI|N|
C4725861|A malignant neoplasm which has spread from its original site of growth to any visceral site.|NCI|N|
C4725862|Dedifferentiated liposarcoma that is not amenable to surgical resection.|NCI|N|
C4725864|Malignant neoplasm that is amenable to surgical resection.|NCI|N|
C4725865|Carcinoma that is amenable to surgical resection.|NCI|N|
C4725866|Sarcoma that is amenable to surgical resection.|NCI|N|
C4725867|Liposarcoma that is amenable to surgical resection.|NCI|N|
C4725868|Dedifferentiated liposarcoma that is amenable to surgical resection.|NCI|N|
C4725869|Undifferentiated pleomorphic sarcoma that is not amenable to surgical resection.|NCI|N|
C4725870|Undifferentiated pleomorphic sarcoma that is amenable to surgical resection.|NCI|N|
C4725872|A cytogenetic abnormality that refers to any translocation involving the FGFR1 gene.|NCI|N|
C4725875|A cytogenetic abnormality that refers to any translocation involving the FGFR3 gene.|NCI|N|
C4725876|Neuroblastoma that is amenable to surgical resection.|NCI|N|
C4725878|Neuroblastoma which is not amenable to surgical resection.|NCI|N|
C4725879|A change in the nucleotide sequence of the FLT3 gene that that results in constitutive activation of receptor-type tyrosine-protein kinase FLT3 and its downstream signaling pathways.|NCI|N|
C4725880|A molecular genetic abnormality indicating the presence of multiple copies of the FLT3 gene.|NCI|N|
C4725884|A change in the nucleotide sequence of the GATA3 gene.|NCI|N|
C4725885|A change in the nucleotide sequence of the BRCA1 gene that originates in the gametes.|NCI|N|
C4725886|A change in the nucleotide sequence of the BRCA2 gene that originates in the gametes.|NCI|N|
C4725888|A molecular genetic abnormality indicating the presence of a mutation in exon 20 of the ERBB2 gene.|NCI|N|
C4725889|A molecular genetic abnormality indicating the presence of an in-frame insertion mutation occurring within exon 20 of the ERBB2 gene.|NCI|N|
C4725891|A change in the nucleotide sequence of the HGF gene.|NCI|N|
C4725894|The presence of mutations in both alleles of a gene involved in homologous recombination-type DNA repair that lead to defects in DNA repair pathways.|NCI|N|
C4725900|A change in the nucleotide sequence of the KDM6A gene.|NCI|N|
C4725902|A change in the nucleotide sequence of the KMT2D gene.|NCI|N|
C4725903|A change in the nucleotide sequence of the KRT72 gene.|NCI|N|
C4725913|A lymphoid proliferation that arises in the setting of immune deficiency due to a primary immunodeficiency or immunoregulatory disorder. The primary immune disorders most frequently associated with lymphoproliferative disorders are ataxia-telangiectasia, Wiskott-Aldrich syndrome, common variable immunodeficiency, severe combined immunodeficiency, X-linked lymphoproliferative disease, Nijmegen breakage syndrome, hyper-IgM syndrome, and autoimmune lymphoproliferative syndrome. (WHO 2017)|NCI|N|
C4725917|A non-Hodgkin or Hodgkin lymphoma that develops in patients who are immunosuppressed with methotrexate.|NCI|N|
C4725921|A change in the nucleotide sequence of the MAGI2 gene.|NCI|N|
C4725923|A change in the nucleotide sequence of the MAP3K1 gene.|NCI|N|
C4725924|A change in the nucleotide sequence of the MED12 gene.|NCI|N|
C4725926|This category includes two main sub-groups, according to the degree of cytological atypia and clinical aggressiveness: Langerhans cell histiocytosis and Langerhans cell sarcoma. (WHO 2017)|NCI|N|
C4725936|A molecular abnormality indicating rearrangement of the MTOR gene.|NCI|N|
C4725938|A semi-quantitative microscopic finding indicating that 20 percent or less of the nucleated cells in a bone marrow sample are neoplastic plasma cells.|NCI|N|
C4725939|A semi-quantitative microscopic finding indicating that 60 percent or more of the nucleated cells in a bone marrow sample are neoplastic plasma cells.|NCI|N|
C4725940|A semi-quantitative microscopic finding indicating that between 10 and 60 percent of the nucleated cells in a bone marrow sample are neoplastic plasma cells.|NCI|N|
C4725941|A molecular abnormality indicating rearrangement of the NF1 gene.|NCI|N|
C4725943|A molecular abnormality indicating rearrangement of the NF2 gene.|NCI|N|
C4725945|A finding of Lynch syndrome in which one is identified as having a ""non-sporadic"" DNA mismatch repair (MMR) deficient premalignant lesion or ""non-sporadic"" MMR deficient malignant tumor, but germline MMR genetic testing did not demonstrate a recognized pathogenic mutation in the genes responsible for DNA mismatch repair.|NCI|N|
C4725947|An individual who has lost their spouse by death, has not remarried, and who has legal rights related to the estate of the deceased spouse.|NCI|N|
C4725948|Living together as if married, usually without legal or religious sanction.|NCI|N|
C4725950|Indicates that a civil partnership has been legally dissolved.|NCI|N|
C4725951|Gastrointestinal stromal tumor which has spread from its original site of growth to another anatomic site.|NCI|N|
C4725952|Gastrointestinal stromal tumor that has spread from its original site of growth to nearby tissues or lymph nodes.|NCI|N|
C4725953|Malignant gastrointestinal stromal tumor that is not amenable to surgical resection.|NCI|N|
C4725954|An indication that the marital or civil status of a relationship has not been disclosed.|NCI|N|
C4725955|An indication that an individual is in a legally recognized relationship with another person, with the same rights and responsibilities as a marriage.|NCI|N|
C4726017|A change in the nucleotide sequence of the BRD4 gene.|NCI|N|
C4726018|An indication that the administration of a medication was modified by reducing the rate at which the dose was given.|NCI|N|
C4726048|An indication that the individual met inclusion and exclusion criteria but was ultimately not utilized as a trial subject.|NCI|N|
C4726056|The identification of an organ that may contain a tumor, lesion or site of disease, and may be part of the objective assessment of the response to the therapeutic intervention.|NCI|N|
C4726060|A change in the nucleotide sequence of the DOT1L gene.|NCI|N|
C4726061|A change in the nucleotide sequence of the IKBKE gene.|NCI|N|
C4726537|A nodular tumor that develops at a site in a body cavity or the surface of an organ, at a distance from the primary tumor.|NCI|N|
C4726540|Familial myeloid neoplasms associated with germline mutations without a preexisting disorder or organ dysfunction.|NCI|N|
C4726541|A change in the nucleotide sequence of the DDX41 gene.|NCI|N|
C4726542|An autosomal dominant familial myelodysplastic syndrome/acute myeloid leukemia syndrome characterized by inherited mutations in the gene on chromosome 5 encoding the DEAD box RNA helicase DDX41. Patients usually present with leukopenia, hypocellular bone marrow with prominent erythroid dysplasia and a normal karyotype, often leading to erythroleukemia. The prognosis is generally poor. (WHO 2017)|NCI|N|
C4726543|Myeloid neoplasms associated with germline mutations and familial platelet disorders.|NCI|N|
C4726544|An autosomal dominant syndrome characterized by abnormalities in platelet number and function and enhanced risk of developing myelodysplastic syndrome/acute myeloid leukemia at a young age. Patients have germline monoallelic mutations in RUNX1 gene. The clinical presentation is variable, even within the same family. Most affected individuals have a mild to moderate bleeding tendency. Platelet counts are normal or mildly reduced, with normal platelet morphology and variable degrees of platelet dysfunction. Distinct families with germline RUNX1 mutations exhibit varying risks of development of myeloid neoplasms with 11-100% (median: 44%) of family members affected. (WHO 2017)|NCI|N|
C4726545|A digestive system carcinoma that has metastasized to another anatomic site and is resistant to treatment.|NCI|N|
C4726546|The reemergence of a metastatic digestive system carcinoma after a period of remission.|NCI|N|
C4726547|A carcinoma hat arises from any part of the digestive system and is resistant to treatment.|NCI|N|
C4726548|A head and neck carcinoma that does not respond to treatment.|NCI|N|
C4726549|An autosomal dominant disorder characterized by moderate thrombocytopenia and increased risk of developing myelodysplastic syndrome/acute myeloid leukemia. This disorder is characterized by germline mutations in ANKRD26, located on chromosome band 10p12.1. (WHO 2017)|NCI|N|
C4726550|A change in the nucleotide sequence of the ANKRD26 gene.|NCI|N|
C4726551|Familial myeloid neoplasms associated with germline mutations and a preexisting disorder or organ dysfunction other than a platelet disorder.|NCI|N|
C4726552|Autosomal dominant familial thrombocytopenia associated with germline ETV6 mutation and hematologic malignancies. The hematologic malignancies reported are diverse, including myelodysplastic syndrome, acute myeloid leukemia, chronic myelomonocytic leukemia, B lymphoblastic leukemia, and plasma cell myeloma. Non-hematological neoplasms, including colorectal adenocarcinoma, have been also reported in affected families. (WHO 2017)|NCI|N|
C4726553|Myelodysplastic syndromes/acute myeloid leukemias associated with germline GATA2 mutation.|NCI|N|
C4726555|A change in the nucleotide sequence of a gene involved in telomere synthesis and maintenance.|NCI|N|
C4726556|Familial myelodysplastic syndromes/ acute myeloid leukemias associated with telomerase biology disorders.|NCI|N|
C4726566|A solid neoplasm involving any anatomic site other than the brain.|NCI|N|
C4726581|Histologic transformation of a usually indolent non-Hodgkin lymphoma to an aggressive non-Hodgkin lymphoma.|NCI|N|
C4726584|A change towards improvement from the pretreatment baseline, but not meeting the criteria for complete response or partial response.|NCI|N|
C4726589|A bile duct carcinoma that has spread to nearby tissues or lymph nodes.|NCI|N|
C4726591|Acute leukemia of ambiguous lineage, expressing combinations of markers that do not allow for its classification as either acute undifferentiated leukemia or mixed phenotype acute leukemia, and definitive classification along a single lineage is difficult. (WHO 2017)|NCI|N|
C4726592|The reemergence of Burkitt leukemia after a period of remission.|NCI|N|
C4726593|Burkitt leukemia resistant to treatment.|NCI|N|
C4726594|Lymphoblastic lymphoma that is resistant to treatment.|NCI|N|
C4726595|High grade B-cell lymphoma with MYC and BCL2 or BCL6 rearrangements that is resistant to treatment.|NCI|N|
C4726596|The reemergence of high grade B-cell lymphoma with MYC and BCL2 or BCL6 rearrangements after a period of remission.|NCI|N|
C4726597|Rhabdomyosarcoma involving the organs and structures in the pelvis.|NCI|N|
C4726598|Rhabdomyosarcoma involving the organs and structures in the abdomen.|NCI|N|
C4726599|Rhabdomyosarcoma which is not amenable to surgical resection.|NCI|N|
C4726600|Undifferentiated high grade pleomorphic sarcoma involving the bones of the pelvis.|NCI|N|
C4726601|Undifferentiated pleomorphic sarcoma involving the organs and structures in the abdomen.|NCI|N|
C4726605|A very rare group of mixed phenotype acute leukemias, not otherwise specified in which the blasts show clear-cut evidence of both B-cell and T-cell lineage or evidence of trilineage (B-cell, T-cell, and myeloid lineage) assignment. (WHO 2017)|NCI|N|
C4726606|A very rare mixed phenotype acute leukemia, not otherwise specified in which the blasts show evidence of trilineage (B-cell, T-cell, and myeloid lineage) assignment. (WHO 2017)|NCI|N|
C4726607|A very rare mixed phenotype acute leukemia, not otherwise specified in which the blasts show clear-cut evidence of both B-cell and T-cell lineage. (WHO 2017)|NCI|N|
C4726609|Pancreatic ductal adenocarcinoma amenable to surgical resection.|NCI|N|
C4726611|A response that indicates the patient did not use any analgesic.|NCI|N|
C4726612|A response that indicates the patient used weak opioids.|NCI|N|
C4726613|A response that indicates the patient used strong opioids at less than or equal to 75 mg oral morphine equivalents (OME) per day.|NCI|N|
C4726614|A response that indicates the patient used strong opioids at greater than 75 mg to a maximum of 150 mg oral morphine equivalents (OME) per day.|NCI|N|
C4726615|A response that indicates the patient used strong opioids at greater than 150 mg to a maximum of 300 mg oral morphine equivalents (OME) per day.|NCI|N|
C4726616|A response that indicates the patient used strong opioids at greater than 300 mg to a maximum of 600 mg oral morphine equivalents (OME) per day.|NCI|N|
C4726617|A response that indicates the patient used strong opioids at greater than 600 mg oral morphine equivalents (OME) per day.|NCI|N|
C4726620|An adenocarcinoma arising from the lower third of the esophagus. The vast majority of esophageal adenocarcinomas involve the lower third of the esophagus.|NCI|N|
C4726621|Primary peritoneal carcinoma that is resistant to treatment.|NCI|N|
C4726622|Fallopian tube carcinoma that is resistant to treatment.|NCI|N|
C4726628|A metastatic sarcoma that is not amenable to surgical resection.|NCI|N|
C4726630|The reemergence of a malignant head and neck neoplasm after a period of remission.|NCI|N|
C4726631|A malignant head and neck neoplasm that is resistant to treatment.|NCI|N|
C4726632|A change in the nucleotide sequence of the DKC1 gene.|NCI|N|
C4726633|A change in the nucleotide sequence of the TERC gene.|NCI|N|
C4726634|A change in the nucleotide sequence of the NOP10 gene.|NCI|N|
C4726635|A change in the nucleotide sequence of the WRAP53 gene.|NCI|N|
C4726636|A change in the nucleotide sequence of the TINF2 gene.|NCI|N|
C4726637|A change in the nucleotide sequence of the CTC1 gene.|NCI|N|
C4726638|A change in the nucleotide sequence of the PARN gene.|NCI|N|
C4726639|A change in the nucleotide sequence of the RTEL1 gene.|NCI|N|
C4726640|A change in the nucleotide sequence of the ACD gene.|NCI|N|
C4726999|A cytogenetic abnormality that refers to any translocation involving the NTRK1 gene.|NCI|N|
C4727000|A molecular genetic abnormality indicating the presence of multiple copies of the NTRK1 gene.|NCI|N|
C4727002|Persisting and longstanding disruption of erythrocyte membrane integrity and the resulting release of hemoglobin.|NCI|N|
C4727003|Soft tissue sarcoma that is not amenable to surgical resection.|NCI|N|
C4727004|Bone sarcoma that has spread from its original site of growth to nearby tissues or lymph nodes.|NCI|N|
C4727005|Sarcoma that has spread from its original site of growth to nearby tissues or lymph nodes.|NCI|N|
C4727006|Bone sarcoma that is not amenable to surgical resection.|NCI|N|
C4727007|Bone sarcoma that has spread from the original site of growth to another anatomic site.|NCI|N|
C4727008|Synovial sarcoma that is not amenable to surgical resection.|NCI|N|
C4727009|Pancreatic neuroendocrine carcinoma that has spread from the original site of growth to another anatomic site.|NCI|N|
C4727010|Pancreatic neuroendocrine carcinoma that is not amenable to surgical resection.|NCI|N|
C4727011|Neuroendocrine tumor grade 1 that is not amenable to surgical resection.|NCI|N|
C4727013|Soft tissue sarcoma that is amenable to surgical resection.|NCI|N|
C4727021|A change in the nucleotide sequence of the ABL1 gene.|NCI|N|
C4727023|A change in the nucleotide sequence of an FGFR family gene that that results in constitutive activation the encoded fibroblast growth factor receptor protein and its downstream signaling pathways.|NCI|N|
C4727031|A change in the nucleotide sequence of the BCOR gene.|NCI|N|
C4727032|A change in the nucleotide sequence of the BCORL1 gene.|NCI|N|
C4727035|A quantitative microscopic finding indicating that 30,000 or fewer nucleated cells in a peripheral leukocyte sample are immature mononuclear cells.|NCI|N|
C4727037|A semi-quantitative microscopic finding indicating that 9 percent or less of the nucleated cells in a bone marrow sample are immature mononuclear cells.|NCI|N|
C4727038|A semi-quantitative microscopic finding indicating that 9 percent or less of the nucleated cells in a peripheral leukocyte sample are immature mononuclear cells.|NCI|N|
C4727061|The appearance of new lesions or growth of one or more existing lesions greater than or equal to 50 percent at any time during treatment occurring in the context of lack of overall progression of overall tumor burden.|NCI|N|
C4727062|An increase in F-fluorodeoxyglucose (FDG) uptake of one or more lesions without a concomitant increase in lesion size or number.|NCI|N|
C4727064|The reemergence of hepatosplenic T-cell lymphoma after a period of remission.|NCI|N|
C4727065|Hepatosplenic T-cell lymphoma that is resistant to treatment.|NCI|N|
C4727069|Renal cell carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C4727070|Carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C4727071|Lymphoma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C4727073|The reemergence of a mediastinal lymphoma after a period of remission.|NCI|N|
C4727074|The direct spread of a malignant tumor from an adjacent site into the cranium.|NCI|N|
C4727075|Mediastinal lymphoma that is resistant to treatment.|NCI|N|
C4727077|A squamous cell carcinoma of the skin that has spread from its original site of growth to nearby tissues or lymph nodes.|NCI|N|
C4727078|A synovial sarcoma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C4727079|A sarcoma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C4727087|A carcinoma that arises from the lung and has metastasized to another anatomic site.|NCI|N|
C4727088|A lung carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C4727090|A lung carcinoma that has spread from its original site of growth to nearby tissues or lymph nodes.|NCI|N|
C4727098|A change in the nucleotide sequence of the CBLB gene.|NCI|N|
C4727103|A carcinoma that originates from the wall of the colon or rectum and has spread to the lungs.|NCI|N|
C4727104|A change in the nucleotide sequence of the CSF3R gene.|NCI|N|
C4727105|A carcinoma that arises from the breast and has spread to the spine.|NCI|N|
C4727106|A carcinoma that arises from the breast and has spread to the lymph nodes.|NCI|N|
C4727107|A semi-quantitative microscopic finding indicating that the amount of immature mononuclear cells in a sample from a certain subject has decreased when compared to a prior sample from the same subject.|NCI|N|
C4727108|A change in the nucleotide sequence of the ACKR1 gene.|NCI|N|
C4727109|A nucleotide substitution at position -67 in the upstream promoter region of the ACKR1 gene where thymine has been mutated to cytosine.|NCI|N|
C4727110|A finding indicating elevated concentrations of alpha-hydroxyglutarate in a sample.|NCI|N|
C4727111|A finding indicating elevated concentrations of WT1 in a sample.|NCI|N|
C4727112|A molecular genetic abnormality indicating the presence of multiple copies of the FGF9 gene.|NCI|N|
C4727114|A molecular abnormality indicating rearrangement of an FGFR family gene.|NCI|N|
C4727115|A molecular abnormality indicating rearrangement of the FGFR2 gene.|NCI|N|
C4727119|A change in the nucleotide sequence of the KDM2B gene.|NCI|N|
C4727121|A change in the nucleotide sequence in exon 18 of the KIT gene.|NCI|N|
C4727122|A change in the nucleotide sequence of the KMT2C gene.|NCI|N|
C4727123|A molecular genetic abnormality indicating the presence of multiple copies of the MAP2K1 gene.|NCI|N|
C4727124|A molecular abnormality indicating rearrangement of the MAP2K1 gene.|NCI|N|
C4727125|A molecular genetic abnormality indicating the presence of multiple copies of the MAP2K2 gene.|NCI|N|
C4727126|A change in the nucleotide sequence of the MAP2K2 gene.|NCI|N|
C4727127|A molecular abnormality indicating rearrangement of the MAP2K2 gene.|NCI|N|
C4727132|A molecular abnormality referring to the loss of at least one copy of the NF1 gene.|NCI|N|
C4727134|A change in the nucleotide sequence of the NSD1 gene.|NCI|N|
C4727135|A change in the nucleotide sequence of the NUP98 gene.|NCI|N|
C4727136|A molecular abnormality indicating rearrangement of the NUTM1 gene.|NCI|N|
C4727137|A change in the nucleotide sequence of the PHF6 gene.|NCI|N|
C4727139|A cytogenetic abnormality that refers to a translocation involving the TFE3 gene.|NCI|N|
C4727140|A cytogenetic abnormality that refers to a translocation involving the TFEB gene.|NCI|N|
C4727142|A malignant neoplasm that has spread from its original site of growth to nearby tissues or lymph nodes and is not amenable to surgical resection.|NCI|N|
C4727143|A malignant neoplasm that has spread from its original site of growth to another anatomic site and is not amenable to surgical resection.|NCI|N|
C4727144|A malignant small round cell tumor with or without neural differentiation that is resistant to treatment.|NCI|N|
C4727148|The reemergence of aplastic anemia after a period of remission.|NCI|N|
C4727149|The reemergence of severe aplastic anemia after a period of remission.|NCI|N|
C4727150|Severe aplastic anemia that is resistant to treatment.|NCI|N|
C4727151|The reemergence of hemophagocytic lymphohistiocytosis after a period of remission.|NCI|N|
C4727152|Hemophagocytic lymphohistiocytosis that is resistant to treatment.|NCI|N|
C4727159|A summary of an individual''s weight over time.|NCI|N|
C4727166|A carcinoma that has spread from its original site of growth to another anatomic site and is not amenable to surgical resection.|NCI|N|
C4727167|A gastric adenocarcinoma that has spread from its original site of growth to another anatomic site and is not amenable to surgical resection.|NCI|N|
C4727168|A gastric adenocarcinoma that has spread from its original site of growth to distant anatomic sites and is not amenable to surgical resection.|NCI|N|
C4727169|A gastric carcinoma that has spread from its original site of growth to another anatomic site.|NCI|N|
C4727170|A chordoma that has spread from its original site of growth to other anatomic sites.|NCI|N|
C4727171|A chordoma that has spread from its original site of growth to nearby tissues.|NCI|N|
C4727172|A chordoma which is not amenable to surgical resection.|NCI|N|
C4727175|The reemergence of EBV-positive diffuse large B-cell lymphoma, not otherwise specified after a period of remission.|NCI|N|
C4727176|EBV-positive diffuse large B-cell lymphoma, not otherwise specified that is resistant to treatment.|NCI|N|
C4727178|A finding indicating that a metastatic prostate carcinoma is sensitive to androgen-deprivation therapy.|NCI|N|
C4727179|Metastatic prostatic carcinoma which is sensitive to androgen-deprivation therapy.|NCI|N|
C4727182|The reemergence of Cushing disease after a period of remission.|NCI|N|
C4727187|The reemergence of ovarian carcinosarcoma after a period of remission.|NCI|N|
C4727189|Colon carcinoma that is resistant to treatment.|NCI|N|
C4727190|Liver carcinoma that is resistant to treatment.|NCI|N|
C4727192|Bile duct carcinoma that is resistant to treatment.|NCI|N|
C4727193|Small intestinal carcinoma that is resistant to treatment.|NCI|N|
C4727194|Small intestinal carcinoma that has spread to nearby tissues or lymph nodes.|NCI|N|
C4727195|Digestive system carcinoma that has spread to nearby tissues or lymph nodes.|NCI|N|
C4727196|The reemergence of gastroesophageal junction adenocarcinoma after a period of remission.|NCI|N|
C4727197|A finding indicating the presence of a sarcoma arising from the soft tissue, other than liposarcoma.|NCI|N|
C4727203|Indicates a body mass index measurement greater than 25.|NCI|N|
C4727204|A finding indicating that a soft tissue sarcoma other than liposarcoma has spread from its original site of growth to another anatomic site.|NCI|N|
C4727205|A finding indicating that a soft tissue sarcoma other than liposarcoma has spread from its original site of growth to nearby tissues or lymph nodes.|NCI|N|
C4727214|A change in the nucleotide sequence of the PIGA gene.|NCI|N|
C4727215|A change in the nucleotide sequence of the PIK3C2B gene.|NCI|N|
C4727216|A semi-quantitative microscopic finding indicating that less than 50 percent of the nucleated cells in a bone marrow sample are neoplastic plasma cells.|NCI|N|
C4727217|A carcinoma of the cervix that has spread to another anatomic site.|NCI|N|
C4727218|Cervical squamous cell carcinoma that has spread to another anatomic site.|NCI|N|
C4727219|A cervical adenocarcinoma that has spread to another anatomic site.|NCI|N|
C4727220|A cervical adenosquamous carcinoma that has spread to another anatomic site.|NCI|N|
C4727222|A molecular abnormality indicating rearrangement of the PIK3CA gene.|NCI|N|
C4727223|A change in the nucleotide sequence of the PLCG2 gene.|NCI|N|
C4727226|A finding indicating the spread of a lymphoma from a nodal or extranodal primary site.|NCI|N|
C4727267|A subjective score of 7 on a scale that ranges from 1: Strongly Disagree to 7: Strongly Agree, with 4: Neutral.|NCI|N|
C4727277|A condition of decreased or absent presence or activity of phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN, which is associated with multiple hamartoma syndrome (Cowden syndrome) and increased risk for development of several types of malignant cancers, including head and neck, breast, lung and prostate cancer and glioblastoma.|NCI|N|
C4727282|A bone sarcoma that has spread from its original site of growth to nearby tissues or lymph nodes and is not amenable to surgical resection.|NCI|N|
C4727283|A soft tissue sarcoma that has spread from its original site of growth to nearby tissues or lymph nodes and is not amenable to surgical resection.|NCI|N|
C4727284|A sarcoma that has spread from its original site of growth to nearby tissues or lymph nodes and is not amenable to surgical resection.|NCI|N|
C4727295|A molecular abnormality indicating rearrangement of the RHEB gene.|NCI|N|
C4727301|A change in the nucleotide sequence of the SETBP1 gene.|NCI|N|
C4727302|A change in the nucleotide sequence of the SETD2 gene.|NCI|N|
C4727303|A change in the nucleotide sequence of the SH2D1A gene.|NCI|N|
C4727309|A change in the nucleotide sequence of the SOX9 gene.|NCI|N|
C4727310|A change in the nucleotide sequence of the STAG2 gene.|NCI|N|
C4727311|A change in the nucleotide sequence of the STAT3 gene.|NCI|N|
C4727313|A molecular abnormality indicating rearrangement of the STK11 gene.|NCI|N|
C4727315|A change in the nucleotide sequence of the TAF1 gene.|NCI|N|
C4727316|A change in the nucleotide sequence of the TBX3 gene.|NCI|N|
C4727319|A change in the nucleotide sequence of the TTR gene.|NCI|N|
C4727320|A molecular abnormality indicating rearrangement of the TSC1 gene.|NCI|N|
C4727321|A molecular abnormality indicating rearrangement of the TSC2 gene.|NCI|N|
C4727340|A response indicating moderate disagreement.|NCI|N|
C4727341|A response indicating moderate agreement.|NCI|N|
C4727347|The highest rate of oxygen consumption a subject reaches during an aerobic capacity test.|NCI|N|
C4727349|A change in the nucleotide sequence of the XPO1 gene.|NCI|N|
C4727350|A semiquantitative finding indicating that the amount of immature mononuclear cells in a subject''s sample of nucleated cells from bone marrow has decreased by 50 percent or more over the value recorded for a pretreatment sample from that subject.|NCI|N|
C4727353|A cytogenetic abnormality that refers to any translocation involving Xp11.2 on the short arm of the X chromosome.|NCI|N|
C4727357|The reemergence of acinic cell breast carcinoma after a period of remission.|NCI|N|
C4727358|The reemergence of prostate acinar adenocarcinoma after a period of remission.|NCI|N|
C4727359|The reemergence of parotid gland acinic cell carcinoma after a period of remission.|NCI|N|
C4727360|The reemergence of submandibular gland acinic cell carcinoma after a period of remission.|NCI|N|
C4727362|The reemergence of ampulla of Vater adenocarcinoma after a period of remission.|NCI|N|
C4727363|The reemergence of anal adenocarcinoma after a period of remission.|NCI|N|
C4727364|The reemergence of anal mucinous adenocarcinoma after a period of remission.|NCI|N|
C4727365|The reemergence of Paget disease of the anal canal after a period of remission.|NCI|N|
C4727367|The reemergence of appendix mucinous adenocarcinoma after a period of remission.|NCI|N|
C4727368|A diagnosis code was assigned based on incomplete, incorrect or non-ideal (an alternative diagnosis may be more appropriate) supporting information.|NCI|N|
C4727372|The reemergence of lobular breast carcinoma after a period of remission.|NCI|N|
C4727375|The reemergence of invasive breast carcinoma of no special type after a period of remission.|NCI|N|
C4727376|The reemergence of Paget disease of the breast after a period of remission.|NCI|N|
C4727378|The reemergence of clear cell renal cell carcinoma after a period of remission.|NCI|N|
C4727383|The reemergence of chromophobe renal cell carcinoma after a period of remission.|NCI|N|
C4727385|A subjective score of 5 on a scale that ranges from 0: Not at all important to 10: Extremely important.|NCI|N|
C4727386|A subjective score of 6 on a scale that ranges from 0: Not at all important to 10: Extremely important.|NCI|N|
C4727387|A subjective score of 7 on a scale that ranges from 0: Not at all important to 10: Extremely important.|NCI|N|
C4727388|A subjective score of 8 on a scale that ranges from 0: Not at all important to 10: Extremely important.|NCI|N|
C4727389|A subjective score of 9 on a scale that ranges from 0: Not at all important to 10: Extremely important.|NCI|N|
C4727390|A subjective score of 10 on a scale that ranges from 0: Not at all important to 10: Extremely important.|NCI|N|
C4727391|A response indicating that 2 things are equally likely.|NCI|N|
C4727392|The reemergence of salivary duct carcinoma after a period of remission.|NCI|N|
C4727393|The reemergence of minor salivary gland adenocarcinoma after a period of remission.|NCI|N|
C4727395|The reemergence of ovarian adenocarcinoma after a period of remission.|NCI|N|
C4727396|The reemergence of ovarian serous adenocarcinoma after a period of remission.|NCI|N|
C4727397|The reemergence of ovarian mucinous adenocarcinoma after a period of remission.|NCI|N|
C4727398|The reemergence of ovarian clear cell adenocarcinoma after a period of remission.|NCI|N|
C4727399|The reemergence of pancreatic ductal adenocarcinoma after a period of remission.|NCI|N|
C4727400|The reemergence of pancreatic cystadenocarcinoma after a period of remission.|NCI|N|
C4727401|The reemergence of thyroid gland papillary carcinoma after a period of remission.|NCI|N|
C4727402|The reemergence of thyroid gland follicular carcinoma after a period of remission.|NCI|N|
C4727403|The reemergence of thyroid gland medullary carcinoma after a period of remission.|NCI|N|
C4727405|The reemergence of skin angiosarcoma after a period of remission.|NCI|N|
C4727408|The reemergence of parotid gland carcinoma after a period of remission.|NCI|N|
C4727409|The reemergence of submandibular gland carcinoma after a period of remission.|NCI|N|
C4727410|The reemergence of appendix carcinoma after a period of remission.|NCI|N|
C4727411|The reemergence of parotid gland adenoid cystic carcinoma after a period of remission.|NCI|N|
C4727412|The reemergence of parotid gland carcinoma ex pleomorphic adenoma after a period of remission.|NCI|N|
C4727413|The reemergence of parotid gland mucoepidermoid carcinoma after a period of remission.|NCI|N|
C4727414|The reemergence of submandibular gland mucoepidermoid carcinoma after a period of remission.|NCI|N|
C4727415|The reemergence of submandibular gland adenoid cystic carcinoma after a period of remission.|NCI|N|
C4727416|The reemergence of parotid gland squamous cell carcinoma after a period of remission.|NCI|N|
C4727417|The reemergence of submandibular gland squamous cell carcinoma after a period of remission.|NCI|N|
C4727418|The reemergence of submandibular gland undifferentiated carcinoma after a period of remission.|NCI|N|
C4727419|The reemergence of parotid gland undifferentiated carcinoma after a period of remission.|NCI|N|
C4727421|The reemergence of malignant ovarian Brenner tumor after a period of remission.|NCI|N|
C4727422|The reemergence of ovarian transitional cell carcinoma after a period of remission.|NCI|N|
C4727424|The reemergence of a primary malignant central nervous system neoplasm after a period of remission.|NCI|N|
C4727427|The reemergence of a malignant brain neoplasm after a period of remission.|NCI|N|
C4727429|A primary malignant central nervous system neoplasm that is resistant to treatment.|NCI|N|
C4727431|A malignant brain neoplasm that is resistant to treatment.|NCI|N|
C4727432|A WHO grade 3 glioma that is resistant to treatment.|NCI|N|
C4727458|A fibrolamellar carcinoma that has spread from the liver to another anatomic site.|NCI|N|
C4727460|A semi-quantitative microscopic finding indicating that immature mononuclear cells are not detected when the nucleated cells in a peripheral leukocyte sample were examined.|NCI|N|
C4727461|A semi-quantitative microscopic finding indicating that 20 percent or less of the nucleated cells in a peripheral leukocyte sample are immature mononuclear cells.|NCI|N|
C4727463|A quantitative microscopic finding indicating that less than 10,000 of the total number of nucleated cells in a peripheral leukocyte sample are immature mononuclear cells.|NCI|N|
C4727465|A morphologic finding indicating the presence of dysplasia in the squamous epithelium of a tissue sample.|NCI|N|
C4727474|A semi-quantitative microscopic finding indicating that 5 percent or less of the nucleated cells in a bone marrow sample are immature mononuclear cells of myeloid origin.|NCI|N|
C4727475|A change in the nucleotide sequence of the PARP1 gene.|NCI|N|
C4727476|A change in the nucleotide sequence of the PARP2 gene.|NCI|N|
C4727483|A molecular abnormality indicating rearrangement of the BRAF gene.|NCI|N|
C4727502|A gastric adenocarcinoma that is not amenable to surgical resection.|NCI|N|
C4727505|A change in the nucleotide sequence of the ERCC3 gene.|NCI|N|
C4727506|A change in the nucleotide sequence of the ABRAXAS1 gene.|NCI|N|
C4727507|A change in the nucleotide sequence of the GEN1 gene.|NCI|N|
C4727508|A change in the nucleotide sequence of the HDAC2 gene.|NCI|N|
C4727512|A response indicating the belief that most breast cancer patients will die of something else.|NCI|N|
C4727513|A response indicating the belief that about half of breast cancer patients will die of breast cancer.|NCI|N|
C4727514|A response indicating the belief that most breast cancer patients will die of breast cancer.|NCI|N|
C4727515|A response indicating little to no agreement, interest, or importance.|NCI|N|
C4727546|A usually circumscribed and non-metastasizing nodular mass.|NCI|N|
C4727569|A change in the sequence of a histone family gene.|NCI|N|
C4727570|A change in the sequence of a histone H3 family gene.|NCI|N|
C4727571|An indication that a biospecimen should not be subjected to any treatment.|NCI|N|
C4727572|A nucleotide substitution at position 83 of the coding sequence of the HIST1H3B gene where adenine has been mutated to thymine.|NCI|N|
C4727573|A change in the sequence of the HIST1H3C gene.|NCI|N|
C4727574|A nucleotide substitution at position 83 of the coding sequence of the HIST1H3C gene where adenine has been mutated to thymine.|NCI|N|
C4727575|A change in the sequence of the HIST1H3D gene.|NCI|N|
C4727576|A nucleotide substitution at position 83 of the coding sequence of the HIST1H3D gene where adenine has been mutated to thymine.|NCI|N|
C4727577|A nucleotide substitution at position 83 of the coding sequence of the H3-3A gene where adenine has been mutated to thymine.|NCI|N|
C4727578|A squamous cell carcinoma that has spread from its original site of growth to nearby tissues or lymph nodes.|NCI|N|
C4727579|A squamous cell carcinoma that arises from the nasal cavity and/or paranasal sinuses and has spread from its original site of growth to nearby tissues or lymph nodes.|NCI|N|
C4727580|A poorly differentiated carcinoma that arises from the nasal cavity and/or paranasal sinuses.|NCI|N|
C4727586|The reemergence of peripheral T-cell lymphoma, not otherwise specified after a period of remission.|NCI|N|
C4727587|A glioblastoma characterized by the presence of DNA methylation in the promoter region of the MGMT gene. It is associated with improved survival.|NCI|N|
C4727592|Intracytoplasmic accumulation of cytokeratin.|NCI|N|
C4727593|A corticotroph pituitary tumor composed of cells with Crooke hyaline change. Ring-like cytokeratin expression is typical of these neoplasms. ACTH expression is dislocated to the cell periphery and juxtanuclear region. Ultrastructurally, intermediate filaments are arranged in a ring-like pattern. (WHO)|NCI|N|
C4727594|A change in the nucleotide sequence of the USP8 gene.|NCI|N|
C4727595|Ureter carcinoma that has spread to another anatomical site.|NCI|N|
C4727596|Urethral carcinoma that has spread to another anatomical site.|NCI|N|
C4727641|An increase in the copy number of a region containing a transcription factor binding site for a gene.|NCI|N|
C4727678|The reemergence of chronic myelomonocytic leukemia after a period of remission.|NCI|N|
C4727679|A response indicating that an individual feels or felt that they are satisfied with the care they received.|NCI|N|
C4727682|A non-neoplastic disorder that affects the optic nerve.|NCI|N|
C4727683|A squamous cell carcinoma of the oral cavity that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C4727684|A squamous cell carcinoma of the oral cavity which has spread from the original site of growth to another anatomic site.|NCI|N|
C4727685|A squamous cell carcinoma of the nasopharynx that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C4727686|A squamous cell carcinoma of the hypopharynx that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C4727687|A squamous cell carcinoma of the larynx that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C4727704|Malignant female reproductive system neoplasm that is resistant to treatment.|NCI|N|
C4727705|Melanoma of the skin that is resistant to treatment.|NCI|N|
C4727711|An indication that overexpression of ERBB2 has been detected in a sample.|NCI|N|
C4727712|A change in the nucleotide sequence of the KRT5 gene.|NCI|N|
C4727713|Menopause caused by chemotherapy or other chemicals or medications.|NCI|N|
C4727741|Female reproductive system carcinoma that is resistant to treatment.|NCI|N|
C4727743|A change in the nucleotide sequence of the NHP2 gene.|NCI|N|
C4727772|Soft tissue sarcoma that has spread from its original site of growth to nearby tissues or lymph nodes.|NCI|N|
C4727773|Non-small cell lung carcinoma that does not respond to treatment.|NCI|N|
C4727781|Non-squamous non-small cell lung carcinoma that has spread from its original site of growth to nearby tissues or lymph nodes.|NCI|N|
C4727782|Non-small cell squamous lung carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C4727785|A change in the sequence of the EGFR gene that results in increased sensitivity to EGFR targeted agents.|NCI|N|
C4727787|A triple-negative breast carcinoma that has spread from its original site of growth to another anatomic site.|NCI|N|
C4727791|A change in the amino acid residue at position 27 in histone H3.1 protein where lysine has been replaced by methionine.|NCI|N|
C4727798|The reemergence of fibrolamellar carcinoma after a period of remission.|NCI|N|
C4727827|A finding indicating the presence of a sarcoma arising from the soft tissue, other than rhabdomyosarcoma, that is resistant to treatment.|NCI|N|
C4727832|A group of disorders caused by mutation(s) that disrupt the maintenance of telomeres, resulting in the short telomere defect.|NCI|N|
C4727834|Langerhans cell histiocytosis presenting with multiple sites of involvement.|NCI|N|
C4727838|Melanoma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C4727839|A head and neck carcinoma that has spread from its original site of growth to nearby tissues or lymph nodes.|NCI|N|
C4727841|The reemergence of pancreatic acinar cell carcinoma after a period of remission.|NCI|N|
C4727842|The reemergence of ovarian cystadenocarcinoma after a period of remission.|NCI|N|
C4727843|The reemergence of submandibular gland carcinoma ex pleomorphic adenoma after a period of remission.|NCI|N|
C4727844|Familial myelodysplastic syndromes/ acute myeloid leukemias associated with inherited bone marrow failure syndromes.|NCI|N|
C4727985|Round cell sarcoma with EWSR1-non-ETS fusions are round and spindle cell sarcomas with fusions outside the ETS family of transcription factors.|SNOMEDCT_US|N|
C4728037|Areas of necrotic tissue within a lymph node.|HPO|N|
C4728147|A rare, acquired, dermis elastic tissue disease characterized by asymptomatic, well-demarcated, symmetric patches and/or plaques of finely wrinkled skin arranged parallel to skin cleavage lines (type I), associated with perifollicular papular protrusions (type II) or with persistent reticular erythema (type III), occurring predominantly on the shoulders, trunk, back, and proximal extremities, associating, on histopathology, a selective loss of elastic tissue in the midreticular dermis. Erythema and/or urticaria may or may not precede wrinkly lesions.|ORDO|N|
C4728213|PIK3CA-related overgrowth spectrum (PROS) encompasses a range of clinical findings in which the core features are congenital or early-childhood onset of segmental/focal overgrowth with or without cellular dysplasia. Prior to the identification of PIK3CA as the causative gene, PROS was separated into distinct clinical syndromes based on the tissues and/or organs involved (e.g., MCAP [megalencephaly-capillary malformation] syndrome and CLOVES [congenital lipomatous asymmetric overgrowth of the trunk, lymphatic, capillary, venous, and combined-type vascular malformations, epidermal nevi, skeletal and spinal anomalies] syndrome). The predominant areas of overgrowth include the brain, limbs (including fingers and toes), trunk (including abdomen and chest), and face, all usually in an asymmetric distribution. Generalized brain overgrowth may be accompanied by secondary overgrowth of specific brain structures resulting in ventriculomegaly, a markedly thick corpus callosum, and cerebellar tonsillar ectopia with crowding of the posterior fossa. Vascular malformations may include capillary, venous, and less frequently, arterial or mixed (capillary-lymphatic-venous or arteriovenous) malformations. Lymphatic malformations may be in various locations (internal and/or external) and can cause various clinical issues, including swelling, pain, and occasionally localized bleeding secondary to trauma. Lipomatous overgrowth may occur ipsilateral or contralateral to a vascular malformation, if present. The degree of intellectual disability appears to be mostly related to the presence and severity of seizures, cortical dysplasia (e.g., polymicrogyria), and hydrocephalus. Many children have feeding difficulties that are often multifactorial in nature. Endocrine issues affect a small number of individuals and most commonly include hypoglycemia (largely hypoinsulinemic hypoketotic hypoglycemia), hypothyroidism, and growth hormone deficiency.|GeneReviews|N|
C4731924|Seizures precipitated by exogenous stimuli.|HPO|N|
C4732740|A type of digital ulcer that manifests as an open sore on the surface of the skin at the tip of a finger or toe.|HPO|N|
C4732748|Any functional abnormality of erythrocytes (red-blood cells).|HPO|N|
C4732749|Any deviation from the normal concentration of hemoglobin in the blood.|HPO|N|
C4732750|An abnormal reduction below normal hemoglobin concentration in the circulation.|HPO|N|
C4732755|Peripheral visual field constriction with 10-19 degrees central field preserved.|HPO|N|
C4732756|A functional abnormality affecting one or more of the cranial nerves, which emerge directly from the brain stem.|HPO|N|
C4732758|Pain of the gastrocnemius muscle.|HPO|N|
C4732759|The presence of linear erythematous palpable cords, often on the lateral trunk.|HPO|N|
C4732760|A type of rosette in which a halo of cells surrounds an empty lumen.|HPO|N|
C4732761|A type of rosette in which a spoke-wheel arrangement of cells with tapered cellular processes radiates around a wall of a centrally placed vessel.|HPO|N|
C4732762|A type of rosette that is similar to the Homer Wright rosette, but the central fiber-rich neuropil island is larger and more irregular.|HPO|N|
C4732763|A structural abnormality of the part of the aorta that begins at the aortic arch and then descends through the chest and abdomen.|HPO|N|
C4732764|Fast speech.|HPO|N|
C4732765|Any structural anomaly of the conus terminalis, which is the distal bulbous part of the spinal cord at the location where the spinal cord tapers and ends (usually between the L1 and L2 lumbar vertebrae).|HPO|N|
C4732767|Any structural anomaly of the portal venous sytem, which comprises all of the veins draining the abdominal part of the digestive tract, including the lower esophagus but excluding the lower anal canal. The portal vein conveys blood from viscera and ramifies like an artery at the liver, ending at the sinusoids. Tributaries of the portal vein, which make up the portal venous system, are the splenic, superior mesenteric, left gastric, right gastric, paraumbilical, and cystic veins.|HPO|N|
C4732768|An increased concentration of N,N-dimethylglycine in the circulation.|HPO|N|
C4732769|An increased concentration of N,N-dimethylglycine in the urine.|HPO|N|
C4732771|Centrally located corpus callosum hyperintensities said to resemble snowballs upon magnetic resonance imaging (with T2 or Sagittal fluid attenuated inversion recovery [FLAIR] sequences). The central location in the callosum makes them pathognomonic for Susac syndrome.|HPO|N|
C4732772|An increased susceptibility to bacterial upper respiratory tract infections as manifested by a history of recurrent bacterial upper respiratory tract infections (running ears - otitis, sinusitis, pharyngitis, tonsillitis).|HPO|N|
C4732773|Spastic hemiparesis is characterized by a dominance of the tonus in the upper limb flexor muscles|HPO|N|
C4732774|A type of spastic gait in which the legs are usually slightly bent at the hip and in an adducted position. The knees are extended or slightly bent and the feet are in a plantar flexion position. This posture requires circumduction of the legs during walking. The gait may appear stiff (spastic gait disorder) or stiff as well as insecure (spastic ataxic gait disorder). In spastic paraparetic gait, each leg appears to be dragged forward. If the muscle tone in the adductors is marked, the resulting gait disorder is referred to as scissor gait.|HPO|N|
C4732775|A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the legs.|HPO|N|
C4732776|A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the arms.|HPO|N|
C4732777|Any deviation from the normal value of the serum anion gap, which is calculated from the electrolytes measured in the chemical laboratory, is defined as the sum of serum chloride and bicarbonate concentrations subtracted from the serum sodium concentration.|HPO|N|
C4732778|An abnormally high value of the serum anion gap (the sum of serum chloride and bicarbonate concentrations subtracted from the serum sodium concentration).|HPO|N|
C4732779|An abnormally low value of the serum anion gap (the sum of serum chloride and bicarbonate concentrations subtracted from the serum sodium concentration).|HPO|N|
C4732780|An abnormally low concentration of urea nitrogen in the blood.|HPO|N|
C4732781|A localized hypertrophy of the subaortic segment of the ventricular septum has been frequently described in elderly persons, and variously termed subaortic ventricular septal bulge (VSB), sigmoid-shaped septum, localized or discrete upper septal hypertrophy.|HPO|N|
C4732782|An abnormal increase in the ratio of the height of the cup of the optic nerve head to the height of the disk.|HPO|N|
C4732783|Ratio of the height of the cup of the optic nerve head to the height of the disk is 0.6 (The normal cup-to-disc ratio is 0.3).|HPO|N|
C4732784|Ratio of the height of the cup of the optic nerve head to the height of the disk is 0.7 (The normal cup-to-disc ratio is 0.3).|HPO|N|
C4732785|Ratio of the height of the cup of the optic nerve head to the height of the disk is 0.8 (The normal cup-to-disc ratio is 0.3).|HPO|N|
C4732786|Ratio of the height of the cup of the optic nerve head to the height of the disk is 0.9 (The normal cup-to-disc ratio is 0.3).|HPO|N|
C4732787|Ratio of the height of the cup of the optic nerve head to the height of the disk is 1.0 (The normal cup-to-disc ratio is 0.3).|HPO|N|
C4732788|Any deviation from the normal concentration of a carbohydrate in the urine.|HPO|N|
C4732789|An increased concentration of glycolate in the urine.|HPO|N|
C4732790|Any structural anomaly of the putamen, a brain nucleus which together with the caudate nucleus and fundus striati makes up the striatum.|HPO|N|
C4732791|This term groups terms representing abnormal findings derived from chest X-ray investigation of the lung. In general, lung abnormalities can manifest as opacities (areas of increased density) or as regions with decreased density.|HPO|N|
C4732792|An exudate is a mass of fluid and cells that has seeped out of blood vessels or an organ, usually related to inflammation. In the esophagus, exudates usually present as whitish plagues on the surface of the esophageal mucosa.|HPO|N|
C4732793|Minipolymyoclonus or polyminimyoclonus is a hyperkinetic movement disorder phenomenology characterized by intermittent, low-amplitude, arrhythmic movements of the hands, commonly of several fingers, with amplitudes just sufficient to produce visible and palpable movements of the joints. It is mostly noticed while the individual is maintaining a posture (commonly outstretched hands) or during action (especially the initial phase of movement).|HPO|N|
C4732794|A sudden involuntary contraction of the musculature surrounding the mouth.|HPO|N|
C4732795|An increased concentration of beta-1-galactosyl-O-hydroxylysine (Gal-Hyl) in the urine. This is a biochemical marker of bone resorption.|HPO|N|
C4732796|Apical hypertrophic cardiomyopathy (AHCM) is diastolic dysfunction due to abnormal stiffness of the left ventricle during diastole, with resultant impaired ventricular filling. In AHCM thickened apical segments produce a crowded, spade-shaped, small apical cavity.|HPO|N|
C4732797|Squawks are short inspiratory wheezes of less than 200 ms duration and are also known as squeaks. Acoustic analysis shows the fundamental frequency varying between 200 and 300 Hz. Squawks usually occur in late inspiration and are often preceded by late inspiratory crackles.|HPO|N|
C4732798|Crackles that appear at the beginning of inspiration and end before mid-inspiration.|HPO|N|
C4732799|Crackles that appear any time after the beginning of inspiration and last till the end of inspiration.|HPO|N|
C4732800|Constant exotropia occurring before 6 months of age.; often associated with a large angle of deviation and ocular/CNS abnormalities.|HPO|N|
C4732801|Constant exotropia for near and distance, presenting after 6 months of age.|HPO|N|
C4732802|Overshoot of horizontal (sideways) saccadic eye movements.|HPO|N|
C4732803|Inaccurate saccades (rapid movement of the eye between fixation points) in the vertical direction.|HPO|N|
C4732804|Inaccurate saccades (rapid movement of the eye between fixation points) in the horizontal direction.|HPO|N|
C4732805|Eosinophil infiltration of skeletal muscle.|HPO|N|
C4732806|Cellular infiltration of the liver parenchyma with a preponderance of eosinophils.|HPO|N|
C4732807|Cellular infiltrate confirmed by a cellular infiltrate comprised of mainly eosinophils in the gallbladder wall on histological examination.|HPO|N|
C4732808|A reduced concentration or activity of circulating alpha-1 antitrypsin, which is a 52-kDa glycoprotein mainly synthesized and secreted by hepatocytes into the bloodstream. Alpha-1 antitrypsin is a serine-proteinase inhibitor that it is crucial in maintaining protease-antiprotease homeostasis in the lungs.|HPO|N|
C4732809|Yellow, white or grayish lesions in the retina that are well-defined/distinct, individual and mostly uniform in size.|HPO|N|
C4732810|Yellow, white or grayish lesions in the macula that are well-defined/distinct, individual and mostly uniform in size.|HPO|N|
C4732811|Excessive eyelid tissue laxity, typically affecting both upper eyelids and associated with spontanteous tarsal eversion during sleep. It is more common in the obese, it may be associated with obstructive sleep apnea and it may result in corneal exposure or chronic papillary conjunctivitis.|HPO|N|
C4732812|Laxity of the tendon stabilizing the lateral aspect of the tarsal plate to the zygomatic bone. This can result in rounded appearence of the lateral canthus. Also, when the eyelid is pulled medially, more than 2 mm movement of the canthal angle may be observed.|HPO|N|
C4732813|Laxity of the tendon stabilizing the medial aspect of the tarsal plate to the anterior and posterior lacrimal crests. This may lead to more than 2mm movement of the punctum when the eyelid is pulled laterally.|HPO|N|
C4732814|Abnormally lax eyelid associated with tissue relaxation, predominantly in the horizontal plane. It can be demonstrated by the horizontal eyelid distraction test (e.g. by pulling the eyelid medially and laterally). Medial and/or lateral canthal tendon laxity are often present.|HPO|N|
C4732815|Abnormally lax eyelid associated with tissue relaxation, predominantly in the vertical plane. It can be demonstrated by vertical lid pull. Loosening of vertical stabilizing structures (e.g. lower lid retractors) or tarsal atrophy are often present.|HPO|N|
C4732816|An abnormality in perception of contrast. Spatial contrast is a physical dimension referring to the light-dark transition of a border or an edge in an image that delineates the existence of a pattern or an object. Contrast sensitivity refers to a measure of how much contrast a person requires to see a target. Contrast-sensitivity measurements differ from acuity measurements; acuity is a measure of the spatial-resolving ability of the visual system under conditions of very high contrast, whereas contrast sensitivity is a measure of the threshold contrast for seeing a target.|HPO|N|
C4732817|Mild reduction of the ability to see. On the 6m visual acuity scale, mild reduction is defined as less than 6/12 but at least 6/18. On the 20ft visual acuity scale, mild reduction is defined as less than 20/40 but at least 20/70. On the decimal visual acuity scale, mild reduction is defined as less than 0.5 but at least 0.3.|HPO|N|
C4732818|An anomaly of the adjacent structures (i.e., adnexa) of the eye, defined as the lacrimal apparatus, the extraocular muscles and the eyelids, eyelashes, eyebrows and the conjunctiva.|HPO|N|
C4732819|A functional anomaly of the adjacent structures (i.e., adnexa) of the eye, defined as the lacrimal apparatus, the extraocular muscles and the eyelids, eyelashes, eyebrows and the conjunctiva.|HPO|N|
C4732820|Underdevelopment of the carotid canal, which normally is a circular aperture in the temporal bone of the skull through which the internal carotid artery and the carotid plexus of nerves traverse.|HPO|N|
C4732821|A type of focal cortical dysplasia that is characterized by abnormal cortical layering.|HPO|N|
C4732822|A subtype of focal cortical dysplasia type I that is characterized by abnormal radial cortical lamination.|HPO|N|
C4732823|A subtype of focal cortical dysplasia type I that is characterized by abnormal tangential cortical lamination.|HPO|N|
C4732824|A subtype of focal cortical dysplasia type I that is characterized by abnormal radial and tangential cortical lamination.|HPO|N|
C4732825|A type of focal cortical dysplasia that is characterized by cortical lamination abnormalities associated with a principal lesion, usually adjacent to or affecting the same cortical area/lobe.|HPO|N|
C4732826|A subtype of focal cortical dysplasia type III that is characterized by alterations in architectural organization (cortical dyslamination) or cytoarchitectural composition (hypertrophic neurons outside Layer 5) in patients with hippocampal sclerosis (also known as Ammon's horn sclerosis).|HPO|N|
C4732827|A subtype of focal cortical dysplasia type III that is characterized by altered architectural (cortical dyslamination, hypoplasia without six-layered structure) and/or cytoarchitectural composition (hypertrophic neurons) of the neocortex, which occur adjacent to glial or glioneuronal tumor.|HPO|N|
C4732828|A subtype of focal cortical dysplasia type III that is characterized by alterations in architectural (cortical dyslamination, hypoplasia) or cytoarchitectural composition of the neocortex (hypertrophic neurons), which occur adjacent to vascular malformations (cavernomas, arteriovenous malformations, leptomeningeal vascular malformations, telangiectasias, meningioangiomatosis).|HPO|N|
C4732829|A subtype of focal cortical dysplasia type III that is characterized by altered architectural (cortical dyslamination, hypoplasia without six-layered structure) or cytoarchitectural composition (hypertrophic neurons) of the neocortex, which occur adjacent to other lesions acquired during early life (not included into FCD Type IIIa-c). These lesions comprise a large spectrum including traumatic brain injury, glial scarring after prenatal or perinatal ischemic injury or bleeding, and inflammatory or infectious diseases, i.e. Rasmussen encephalitis, limbic encephalitis, bacterial or viral infections.|HPO|N|
C4732830|A malformation of cortical development characterized by mild abnormalities of the cortex|HPO|N|
C4732832|Any deviation from the normal concentration of bicarbonate, HCO3[-], in the circulation.|HPO|N|
C4732833|An abnormal reduction of the concentration of bicarbonate, HCO3[-], in the circulation.|HPO|N|
C4732834|An abnormal increase in the concentration of bicarbonate, HCO3[-], in the circulation.|HPO|N|
C4732835|An increased amount of urinary mucus. A small amount of mucus is produced by mucous membrane epithelial cells of the urinary tract. An increased amount of mucus can be detected upon urinalysis or other assays and may indicate conditions such as urinary tract infection, urinary tract reconstruction involving the use of bowel segments, or contamination of the urine sample prior to urinalysis.|HPO|N|
C4732836|The presence of autoantibodies (immunoglobulins) in the serum that react to thyroglobulin.|HPO|N|
C4732837|Contrast material enhancement of the pia mater or enhancement that extends into the subarachnoid spaces of the sulci and cisterns is leptomeningeal enhancement. Leptomeningeal enhancement is usually associated with meningitis, which may be bacterial, viral, or fungal. The primary mechanism of this enhancement is breakdown of the blood-brain barrier without angiogenesis.|HPO|N|
C4732838|Increased concentration of urate in the cerebrospinal fluid.|HPO|N|
C4732839|Detection of barbiturate metabolites such as phenobarbital in meconium.|HPO|N|
C4732840|Detection of barbiturate metabolites such as phenobarbital in the hair.|HPO|N|
C4732841|Detection of barbiturate metabolites such as phenobarbital in the stool.|HPO|N|
C4732842|Detection of barbiturate metabolites such as phenobarbital in the gastric fluid.|HPO|N|
C4732843|Any deviation from the normal concentration of nicotinurate in the blood.|HPO|N|
C4732844|An increased amount of nicotinurate in the blood.|HPO|N|
C4732845|Detection of methadone or its metabolite 2-ethylidene-1,5-dimethyl-3,3- diphenylpyrrolidine (EDDP) in plasma or serum.|HPO|N|
C4732846|Detection of cotinine, an alkaloid found in tobacco and the predominant metabolite of nicotine, in plasma or serum.|HPO|N|
C4732847|A reduced concentration of folic acid, which is also known as vitamin B9 in the cerebrospinal fluid.|HPO|N|
C4732848|An abnormality in any umbilical cord measurement performed after birth, such as the blood gas level.|HPO|N|
C4732850|An abnormally high level of blood oxygen in the cord blood.|HPO|N|
C4732851|An abnormally low level of blood oxygen in the cord blood.|HPO|N|
C4732852|Abnormally elevated blood carbon dioxide (CO2) level in the cord blood.|HPO|N|
C4732853|Abnormally decreased blood carbon dioxide (CO2) level in the cord blood.|HPO|N|
C4732854|An abnormal concentration of 5-methyltetrahydrofolate in the blood.|HPO|N|
C4732855|A decreased concentration of 5-methyltetrahydrofolate in the blood.|HPO|N|
C4732856|Abnormally small dimension of the maxilla (upper jaw) relative to the mandible (lower jaw).|HPO|N|
C4732857|Abnormally small dimension of the mandible (lower jaw) relative to the maxilla (upper jaw).|HPO|N|
C4732858|Increased level of IgE antibody against dairy proteins, including casein, alpha-lactalbumin, beta-lactoglobulin or bovine serum albumin contained in cow, sheep or goat milk and milk products.|HPO|N|
C4732860|Increased level of IgE antibody against animal proteins, such as albumins that are present in animal hair, dander, shed skin, saliva and urine.|HPO|N|
C4732861|Increased level of IgE antibody against seafood, including fish, shrimp, lobster, crab, squid and abalone.|HPO|N|
C4732862|Increased level of IgE antibody against dust mites, such as house dust mites.|HPO|N|
C4732863|Increased level of IgE antibody against bacteria.|HPO|N|
C4732864|Increased level of IgE antibody against a drug or class of drugs, such as antibiotics.|HPO|N|
C4732865|Increased level of IgE antibody against feathers, which could be indicative of an allergy against feathers themselves, or mite allergens present in feathers.|HPO|N|
C4732866|Increased level of IgE antibody against proteins found in foods, such as milk, egg, soy, wheat, peanut, treenut, fish, and shellfish.|HPO|N|
C4732867|Increased level of IgE antibody against a plant based food allergen, including vegetables and fruits.|HPO|N|
C4732868|Increased level of IgE antibody against gluten, a protein found in wheat, barley, and rye.|HPO|N|
C4732869|Increased level of IgE antibody against nut food products such as peanuts or tree nuts, such as hazelnuts, walnuts, cashews, and almonds.|HPO|N|
C4732870|Increased level of IgE antibody against eggs, including egg whites, egg yolks, and egg proteins such as ovoalbumin and ovomucoid.|HPO|N|
C4732871|Increased level of IgE antibody against fungus, such as molds like zygomycota, ascomycota and deuteromycota.|HPO|N|
C4732872|Increased level of IgE antibody against meat, such as mammalian meat, including beef or pork, or poultry, like duck or chicken.|HPO|N|
C4732873|Increased level of IgE antibody against parasites, such as helminths (parasitic worms, such as Ascaris lumbricoides, Trichuris trichiura, Ancylostoma duodenalis, Necator americanus, Strongyloides stercoralis) or parasites such as Toxoplasma gondii.|HPO|N|
C4732874|Increased level of IgE antibody against antigens from insects such as moths, mosquitos, or cockroaches.|HPO|N|
C4732875|Increased level of IgE antibody against venom from insects such as bees, wasps, hornets, yellowjackets.|HPO|N|
C4732876|Increased level of IgE antibody against antigens from plants and products derived from plants, such as wood or pollen.|HPO|N|
C4732878|A decrease in diastolic blood pressure (<60 mmHg) without a decrease in systolic blood pressure (> or = to 100 mmHg).|HPO|N|
C4732879|Detection of cocaine or its major metabolite, benzoylecgonine, in urine.|HPO|N|
C4732880|Detection of barbiturate metabolites such as Phenobarbital in urine.|HPO|N|
C4732881|Detection of delta-9-tetrahydrocannabinol (THC) or other cannabinoid metabolites in urine.|HPO|N|
C4732882|Detection of benzodiazepine metabolites, primarily nordiazepam, oxazepam, and temazepam, in urine.|HPO|N|
C4732883|Detection of amphetamine or its metabolites in urine.|HPO|N|
C4732884|Detection of opioids or opioid metabolites in urine.|HPO|N|
C4732885|Abnormal concentration of urobilinogen present in the stool.|HPO|N|
C4732886|An increased amount of urobilinogen present in the stool.|HPO|N|
C4732887|Detection of barbiturate metabolites such as Phenobarbital in blood.|HPO|N|
C4732888|Abnormal concentration of urate in the cerebrospinal fluid (CSF).|HPO|N|
C4732889|A decreased amount of valine in the blood.|HPO|N|
C4732890|An decreased concentration of tyrosine in the blood.|HPO|N|
C4732891|A decreased amount of tryptophan in the blood.|HPO|N|
C4732892|A decreased amount of threonine in the blood.|HPO|N|
C4732893|An increased amount of serine in the blood.|HPO|N|
C4732894|A decreased amount of proline in the blood.|HPO|N|
C4732895|A decreased amount of hydroxyproline in the blood.|HPO|N|
C4732896|A decreased amount of phenylalanine in the blood.|HPO|N|
C4732897|A decreased amount of lysine in the blood.|HPO|N|
C4732898|Decreased amount of leucine in the blood.|HPO|N|
C4732899|A decreased amount of isoleucine in the blood.|HPO|N|
C4732900|A decreased amount of histidine in the blood.|HPO|N|
C4732901|Decreased amount of glutamine in the blood.|HPO|N|
C4732902|Any deviation from the normal concentration of glutamate in the blood circulation.|HPO|N|
C4732903|Concentration of glutamate in the blood circulation above the upper limit of normal.|HPO|N|
C4732904|A decreased amount of glutamate in the blood.|HPO|N|
C4732905|An increased amount of cystine in the blood.|HPO|N|
C4732906|A decreased amount of cystine in the blood.|HPO|N|
C4732907|A decreased amount of alanine in the blood.|HPO|N|
C4732908|Any deviation from the normal concentration of asparagine in the blood circulation.|HPO|N|
C4732909|An increased amount of asparagine in the blood.|HPO|N|
C4732910|A decreased amount of asparagine in the blood.|HPO|N|
C4732912|An increased concentration of aspartic acid in the blood circulation.|HPO|N|
C4732913|Any deviation from the normal concentration of carnosine in the blood circulation.|HPO|N|
C4732914|Concentration of carnosine in the blood circulation above normal limits.|HPO|N|
C4732915|A decreased amount of carnosine in bood.|HPO|N|
C4732917|Any deviation from the normal concentration of a carboxylic acid in the urine.|HPO|N|
C4733501|A rare congenital haemangioma characterised by a superficial, red to violaceous lesion with overlying telangiectasia and a surrounding pale halo, which initially behaves like a rapidly involuting congenital haemangioma, beginning to involute shortly after birth. Involution is then aborted, and a residual tumour virtually indistinguishable from non-involuting congenital haemangioma remains. This lesion grows proportionally with the child and does not regress.|SNOMEDCT_US|N|
C4733552|The reemergence of cutaneous squamous cell carcinoma of the head and neck after a period of remission.|NCI|N|
C4736227|A rare acquired skin disease characterized by benign proliferation of mature plasma cells with a typical triad of cutaneous lesions, polyclonal hypergammaglobulinemia and superficial lymphadenopathy without an apparent underlying cause. The skin lesions consist of multiple round-to-oval, red-to-dark-brown macules, papules and plaques most commonly found on the trunk but also the face, neck, and axilla.|SNOMEDCT_US|N|
C4738056|A rare common cystic lymphatic malformation characterized by a benign cystic lesion composed of dilated lymphatic channels. Microcystic lesions consist of cysts smaller than 1 cm in diameter. They usually present at birth or during the first years of life and most often occur in the head and neck region but may affect any site. Symptoms depend on the location and extent of the lesion. Infection, trauma, or intracystic hemorrhage can lead to lesional expansion. Malignant transformation does not occur.|ORDO|N|
C4740246|A cytogenetic abnormality that refers to the translocation of the long arm (q32) of chromosome 14 and the long arm (q12) of chromosome 20. This juxtaposes the MAFB gene with the promoter regions of the immunoglobulin heavy chain gene locus, which results in overexpression of the transcription factor MafB protein.|NCI|N|
C4740675|The potential future harm that may arise from some present action or attribute or condition is very high.|NCI|N|
C4740711|An indication that monoclonal immunoglobulin or monoclonal light chain has not been detected in a sample.|NCI|N|
C4743561|Small cell lung carcinoma that does not respond to treatment.|NCI|N|
C4743562|The reemergence of thyroid gland anaplastic carcinoma after a period of remission.|NCI|N|
C4743571|Corticotroph pituitary neuroendocrine tumor not associated with a hormonal syndrome.|NCI|N|
C4743573|A densely granulated corticotroph pituitary neuroendocrine tumor not associated with a hormonal syndrome.|NCI|N|
C4743574|A sparsely granulated corticotroph pituitary neuroendocrine tumor not associated with a hormonal syndrome.|NCI|N|
C4743576|Malignant mesothelioma of the pleura that is amenable to surgical resection.|NCI|N|
C4743577|Malignant mesothelioma that is amenable to surgical resection.|NCI|N|
C4743578|Malignant mesothelioma that is not amenable to surgical resection.|NCI|N|
C4743579|Malignant mesothelioma of the pleura that is not amenable to surgical resection.|NCI|N|
C4743610|Overexpression of TFEB protein that results from a t(6;11)(p21;q12) translocation, which involves the human genes MALAT1 and TFEB and is associated with renal cell carcinoma with t(6;11)(p21;q12); MALAT1-TFEB.|NCI|N|
C4743612|Translocations/gene fusions in the MiT family transcription factors TFE3 or TFEB.|NCI|N|
C4743615|A finding indicating that neoplastic cells of a single cell type have detectable immunoreactivity for two or more hormones in a tissue sample.|NCI|N|
C4743616|A finding indicating that neoplastic cells of two or more cell types have detectable immunoreactivity for different hormones in a tissue sample.|NCI|N|
C4743619|An indication that an individual completed a questionnaire or measure by themselves, without assistance.|NCI|N|
C4743620|An indication that an individual completed a questionnaire or measure by themselves, but required some assistance.|NCI|N|
C4743621|An indication that a questionnaire or measure was completed by someone on behalf of an individual, without input from the individual.|NCI|N|
C4743622|An indication that a questionnaire or measure was completed by someone on behalf of an individual, with input from the individual.|NCI|N|
C4743624|Pituitary neuroendocrine tumors composed of adenohypopheseal cells of two lineages or a null cell tumor in combination with a lineage-specific pituitary neuroendocrine tumor in the same gland.|NCI|N|
C4743625|Multiple pituitary neuroendocrine tumors composed of adenohypopheseal cells of two or more lineages or a null cell tumor in combination with a lineage-specific pituitary neuroendocrine tumor in the same gland.|NCI|N|
C4743626|A finding indicating the presence of two separate tumor masses in the same organ.|NCI|N|
C4743627|A finding indicating the presence of more than two separate tumor masses in the same organ.|NCI|N|
C4743628|An indication that vital sign data came from a device in direct contact with the patient.|NCI|N|
C4743636|Renal cell carcinoma that is not amenable to surgical resection.|NCI|N|
C4743637|Renal cell carcinoma that is amenable to surgical resection.|NCI|N|
C4743656|The reemergence of a metastatic malignant neoplasm after a period of remission.|NCI|N|
C4743662|An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from any part of the gastrointestinal system. It is characterized by the presence of malignant large cells.|NCI|N|
C4743663|A finding indicating the presence of a previously diagnosed invasive malignant neoplasm.|NCI|N|
C4743664|A finding indicating the presence of a previously diagnosed malignant neoplasm infiltrating other, non-specified anatomic sites.|NCI|N|
C4743665|A neuroendocrine tumor that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C4743673|An aggressive, high-grade, and poorly differentiated carcinoma with neuroendocrine differentiation that arises from any part of the gastrointestinal system. It is characterized by the presence of malignant small cells.|NCI|N|
C4743689|A squamous cell carcinoma that arises in a patient with a history of organ transplantation.|NCI|N|
C4743730|A score based on the Bauermeister scale, a 5-point grading system used to rate the extent of myelofibrosis in potential myeloproliferative neoplasms, based on the amount of reticulin and collagen fibers present in the bone marrow. (Bauermeister DE. Quantitation of bone marrow reticulin-a normal range. Am J Clin Pathol. 1971 Jul;56(1):24-31.)|NCI|N|
C4743731|A score based on the European Consensus scale, a grading system for the qualitative and quantitative evaluation of bone marrow fibrosis with a score ranging from zero (normal bone marrow) to three (coarse bundles of collagen fibrosis, usually associated with significant osteosclerosis). (Thiele J, Kvasnicka HM, Facchetti F, Franco V, van der Walt J, Orazi A. European consensus on grading bone marrow fibrosis and assessment of cellularity. Haematologica. 2005 Aug;90(8):1128-32.)|NCI|N|
C4743732|The percentage of viable tumor cells with partial or complete cell membrane staining.|NCI|N|
C4743752|An indication as to whether the primary site of cancer is known.|NCI|N|
C4743753|An indication as to whether the tumor has been resected.|NCI|N|
C4743756|The exposure to agents that occurs during in utero development.|NCI|N|
C4743762|An indication as to whether erythema is present.|NCI|N|
C4743763|An indication as to whether rash is present.|NCI|N|
C4743764|An indication as to whether the Skene''s gland is abnormal.|NCI|N|
C4743765|An indication as to whether the Bartholin''s gland is abnormal.|NCI|N|
C4743766|An indication as to whether an ulcer is present.|NCI|N|
C4743767|An indication as to whether a pustule is present.|NCI|N|
C4743768|An indication as to whether there is the presence of peeling.|NCI|N|
C4743769|An indication as to whether ecchymosis is present.|NCI|N|
C4743770|An indication as to whether edema is present.|NCI|N|
C4743771|An indication as to whether a mass is present.|NCI|N|
C4743772|An indication as to whether there are symptoms of motion tenderness.|NCI|N|
C4743773|An indication as to whether there is the presence of discharge.|NCI|N|
C4743774|An indication as to whether there is the presence of abnormal bleeding.|NCI|N|
C4743775|A malignant glandular neoplasm that arises from a pre-existing benign fibroadenoma.|NCI|N|
C4743787|An indication as to whether the fontanelle is closed.|NCI|N|
C4743789|Findings suggesting an adverse event in a neonate or newborn.|NCI|N|
C4743790|A change in the nucleotide sequence of a gene involved in any DNA damage response pathway that is associated with increased risk of disease.|NCI|N|
C4743791|A change in the nucleotide sequence of the C5 gene.|NCI|N|
C4743794|An adverse event in a newborn characterized by a perforation in the gastrointestinal tract of a newborn with no demonstrable cause.|NCI|N|
C4743795|An adverse event in a newborn characterized by a state of a lowered level of consciousness.|NCI|N|
C4743796|An adverse event in a newborn characterized by a systemic inflammatory response to an infection with an identifiable cause.|NCI|N|
C4743797|An adverse event in a newborn characterized by a systemic inflammatory response without identifiable cause.|NCI|N|
C4743798|An adverse event in a newborn characterized by an abnormally high heart rate for age.|NCI|N|
C4743799|An adverse event in a newborn characterized by an abnormally low heart rate for age.|NCI|N|
C4743800|An adverse event in a newborn characterized by an electroencephalogram (EEG) confirmed paroxysmal surge of electrical activity in the brain that may result in physical or behavioral changes.|NCI|N|
C4743801|An adverse event in a newborn characterized by hemorrhage originating at any site located within the gastrointestinal tract.|NCI|N|
C4743802|An adverse event in a newborn characterized by irregular and infrequent or difficult evacuation of the bowels.|NCI|N|
C4743803|An adverse event in a newborn characterized by local irritation or a complication at the administration site of a drug.|NCI|N|
C4743804|An adverse event in a newborn characterized by non-sinus rhythm with an abnormally high heart rate for age.|NCI|N|
C4743805|An adverse event in a newborn characterized by non-sinus rhythm with an abnormally low heart rate for age.|NCI|N|
C4743806|An adverse event in a newborn characterized by significant impairment of gas exchange resulting in compensatory breathing efforts and eventually hypoxia and/or hypercarbia. Note: Consider this adverse event for any patient whose respiratory condition deteriorates from baseline. If any specific diagnosis is identified: use diagnosis-specific scale (e.g. respiratory distress syndrome (RDS), pulmonary hemorrhage).|NCI|N|
C4743808|An adverse event in a newborn characterized by a single, self-limited suspected seizure requiring no treatment.|NCI|N|
C4743809|An adverse event in a newborn characterized by suspected seizures controlled with one anti-seizure drug (no recurrence within three days after treatment).|NCI|N|
C4743810|An adverse event in a newborn characterized by suspected seizures uncontrolled with one anti-seizure drug (recurrence within three days after treatment or requiring two or more anti-seizure drugs).|NCI|N|
C4743811|An adverse event in a newborn characterized by suspected seizures with life-threatening consequences (e.g. need for ventilation); suspected status epilepticus (greater than 30 minutes of convulsions within any 60 minute period) despite multiple anti-seizure drugs.|NCI|N|
C4743812|An adverse event in a newborn characterized by death related to suspected seizures.|NCI|N|
C4743813|An adverse event in a newborn characterized by a single, self-limited electroencephalogram (EEG)-proven seizure requiring no treatment.|NCI|N|
C4743814|An adverse event in a newborn characterized by electroencephalogram (EEG)-proven seizures that are controlled with one anti-seizure drug (no recurrence within three days after treatment).|NCI|N|
C4743815|An adverse event in a newborn characterized by electroencephalogram (EEG)-proven seizures uncontrolled with one anti-seizure drug (recurrence within three days after treatment or requiring two or more anti-seizure drugs).|NCI|N|
C4743816|An adverse event in a newborn characterized by electroencephalogram (EEG)- proven seizures with life-threatening consequences (e.g. need for ventilation); status epilepticus (greater than 30 minutes of seizure activity within any 60 minute period) despite multiple anti-seizure drugs.|NCI|N|
C4743817|An adverse event in a newborn characterized by death related to electroencephalogram (EEG)-proven seizures.|NCI|N|
C4743818|An adverse event in a newborn characterized by asymptomatic hemorrhage confined to the germinal matrix; minimal hemorrhage within the ventricle (less than 10% on parasagittal view).|NCI|N|
C4743819|An adverse event in a newborn characterized by hemorrhage occupying greater than 50% of the ventricle volume; ventricular dilatation greater than 4mm above the 97th percentile; parenchymal venous infarction; requiring temporizing neurosurgical procedure (drain, shunt or reservoir).|NCI|N|
C4743820|An adverse event in a newborn characterized by intraventricular hemorrhage with parenchymal venous infarction; resulting in life threatening consequences (e.g. refractory seizures, hypotension, respiratory depression); requiring urgent stabilization or surgical decompression.|NCI|N|
C4743821|An intraventricular hemorrhage adverse event in a newborn which results in death.|NCI|N|
C4743822|An adverse event in a newborn characterized by zone 2 International Classification of Retinopathy of Prematurity (ICROP) stage 1 with or without plus disease; zone 2 ICROP stage 2 without plus disease; zone 3 any ICROP stage; no care changes indicated.|NCI|N|
C4743823|An adverse event in a newborn characterized by type 2 prethreshold retinopathy of prematurity (ROP) (zone 1 International Classification of Retinopathy of Prematurity (ICROP) stage 1 or 2 without plus disease; zone 2 ICROP stage 3 without plus disease); requiring more frequent ophthalmic monitoring.|NCI|N|
C4743824|An adverse event in a newborn characterized by type 1 prethreshold retinopathy of prematurity (ROP) (zone 1 any stage with plus disease; zone 1 International Classification of Retinopathy of Prematurity (ICROP) stage 3 without plus disease; zone 2 ICROP stage 2 or 3 with plus disease); threshold ROP; requiring major care changes (e.g. laser intervention, intravitreal anti-VEGF therapy or operative management).|NCI|N|
C4743825|An adverse event in a newborn characterized by unilateral retinal detachment.|NCI|N|
C4743826|An adverse event in a newborn characterized by bilateral retinal detachment and blindness.|NCI|N|
C4743827|An adverse event in a newborn clinically classified as perinatal asphyxia, but not resulting in encephalopathy.|NCI|N|
C4743828|An adverse event in a newborn characterized by mild transient clinical signs (see Sarnat stages for further guidance on mild, moderate and severe clinical signs of encephalopathy) of encephalopathy resulting from a perinatal asphyxia event; necessitating observation and additional care.|NCI|N|
C4743829|An adverse event in a newborn characterized by moderate clinical signs (see Sarnat stages for further guidance on mild, moderate and severe clinical signs of encephalopathy) of encephalopathy resulting from a perinatal asphyxia event; meeting criteria for therapeutic hypothermia.|NCI|N|
C4743830|An adverse event in a newborn characterized by severe clinical signs (see Sarnat stages for further guidance on mild, moderate and severe clinical signs of encephalopathy) of encephalopathy resulting from a perinatal asphyxia event with life-threatening consequences (e.g. respiratory depression, refractory seizures).|NCI|N|
C4743831|An hypoxic ischemic encephalopathy adverse event in a newborn which results in death.|NCI|N|
C4743832|An adverse event in a newborn characterized by transient periventricular echodensities persisting greater than seven days and resolving completely.|NCI|N|
C4743833|An adverse event in a newborn characterized by transient periventricular echodensities evolving in to small localized fronto-parietal cysts or persistent diffuse echodensities.|NCI|N|
C4743834|An adverse event in a newborn characterized by periventricular echodensities, evolving in to extensive cystic periventricular lesions; or densities extending in to the deep white matter.|NCI|N|
C4743835|An adverse event in a newborn characterized by moderate irritability, minor changes in feeding and sleeping behavior, requiring minor additional care (e.g. occasional analgesics).|NCI|N|
C4743836|An adverse event in a newborn characterized by severe irritability, major changes in feeding behavior, requiring support other than oral feeding; requiring long term medical treatment (e.g. sedatives).|NCI|N|
C4743837|An adverse event in a newborn characterized by life threatening irritability, with loss of autonomic control of temperature or heart rate; requiring urgent care change.|NCI|N|
C4743838|An adverse event in a newborn characterized by mild, self-limiting or transient sedation or sleepiness; transient loss of interactions; not requiring care change.|NCI|N|
C4743839|An adverse event in a newborn characterized by moderate sedation; limiting interactions and minor changes in feeding behavior; requiring increased monitoring.|NCI|N|
C4743840|An adverse event in a newborn characterized by severe sedation, major changes in feeding behavior; requiring support other than oral feeding (e.g. tube feeding).|NCI|N|
C4743841|An adverse event in a newborn characterized by life-threatening sedation with cardiorespiratory instability; requiring urgent care change.|NCI|N|
C4743842|An adverse event in a newborn characterized by transient (less than 60 minutes), asymptomatic hypotension; not affecting perfusion; not requiring intervention.|NCI|N|
C4743843|An adverse event in a newborn characterized by persistent (greater than 60 minutes) hypotension; not affecting perfusion; requiring minor care changes (e.g. additional fluids).|NCI|N|
C4743844|An adverse event in a newborn characterized by persistent hypotension affecting perfusion; requiring major care change (e.g. vaso-active drugs or hydrocortisone).|NCI|N|
C4743845|A hypotensive adverse event in a newborn characterized by life-threatening consequences (e.g. shock, organ failure).|NCI|N|
C4743846|A hypotensive adverse event in a newborn which results in death.|NCI|N|
C4743847|An adverse event in a newborn characterized by systolic or diastolic blood pressure above the 90th percentile but below the 95th percentile; self-limiting.|NCI|N|
C4743848|An adverse event in a newborn characterized by persistent or recurrent hypertension, with systolic or diastolic blood pressure between the 95th percentile and the 99th percentile.|NCI|N|
C4743849|An adverse event in a newborn characterized by persistent or recurrent hypertension, with systolic or diastolic blood pressure above the 99th percentile; need for antihypertensive medication.|NCI|N|
C4743850|A hypertensive adverse event in a newborn characterized by life-threatening consequences (e.g. malignant hypertension: shock, cardiac failure or neonatal encephalopathy).|NCI|N|
C4743851|A hypertensive adverse event in a newborn which results in death.|NCI|N|
C4743852|An adverse event in a newborn characterized by brief, self-limiting, episodes of sinus tachycardia; no care changes.|NCI|N|
C4743853|An adverse event in a newborn characterized by persistent sinus tachycardia; no change in age appropriate behavior; requiring minor care changes (e.g. concomitant medication changed).|NCI|N|
C4743854|An adverse event in a newborn characterized by persistent sinus tachycardia; resulting in non-life threatening hemodynamic compromise; requiring major care changes (e.g. new medication or intervention).|NCI|N|
C4743855|A sinus tachycardia adverse event in a newborn characterized by life-threatening consequences; requiring urgent major care changes.|NCI|N|
C4743856|A sinus tachycardia adverse event in a newborn which results in death.|NCI|N|
C4743857|An adverse event in a newborn characterized by brief, self-limiting, episodes of sinus bradycardia; no care changes.|NCI|N|
C4743858|An adverse event in a newborn characterized by persistent sinus bradycardia; no change in age-appropriate behavior; requiring minor care changes (e.g. concomitant medication adapted, intermittent increase of fraction of inspired oxygen (FiO2)).|NCI|N|
C4743859|An adverse event in a newborn characterized by persistent sinus bradycardia; resulting in non-life threatening hemodynamic compromise; requiring major care changes (e.g. new medication or intervention).|NCI|N|
C4743860|A sinus bradycardia adverse event in a newborn characterized by life-threatening consequences (e.g. shock); requiring urgent major care changes.|NCI|N|
C4743861|A sinus bradycardia adverse event in a newborn which results in death.|NCI|N|
C4743862|An adverse event in a newborn characterized by brief, self-limiting, episodes of asymptomatic tachyarrhythmia (e.g. extra-systolic beats); no care changes.|NCI|N|
C4743863|A tachyarrhythmia adverse event in a newborn characterized by no change in age-appropriate behavior; requiring minor care changes (e.g. increased monitoring).|NCI|N|
C4743864|A tachyarrhythmia adverse event in a newborn characterized by life-threatening consequences (e.g. shock); requiring urgent major care changes.|NCI|N|
C4743865|A tachyarrhythmia adverse event in a newborn which results in death.|NCI|N|
C4743866|An adverse event in a newborn characterized by brief, self-limiting, episodes of asymptomatic bradyarrhythmia; no care changes.|NCI|N|
C4743867|A bradyarrhythmia adverse event in a newborn characterized by no change in age-appropriate behavior; requiring minor care changes (e.g. increased monitoring).|NCI|N|
C4743868|A bradyarrhythmia adverse event in a newborn resulting in non-life threatening hemodynamic compromise; requiring major care changes (e.g. new medication or intervention).|NCI|N|
C4743869|A bradyarrhythmia adverse event in a newborn characterized by life-threatening consequences (e.g. shock); requiring urgent major care changes.|NCI|N|
C4743870|A bradyarrhythmia adverse event in a newborn which results in death.|NCI|N|
C4743871|An adverse event in a newborn characterized by mild edema; no change in age appropriate behavior; no care changes indicated.|NCI|N|
C4743872|An adverse event in a newborn characterized by moderate edema; no change in age appropriate behavior; requiring minor care changes (e.g. alteration in fluid management).|NCI|N|
C4743873|An adverse event in a newborn characterized by severe edema; limiting age appropriate behavior; requiring major care changes (e.g. diuretics).|NCI|N|
C4743874|An edema adverse event in a newborn characterized by life threatening consequences (e.g. respiratory failure, shock); requiring urgent major care changes (e.g. intubation, dialysis).|NCI|N|
C4743875|An edema adverse event in a newborn which results in death.|NCI|N|
C4743876|An adverse event in a newborn characterized by minor biochemical coagulation abnormalities without clinical signs; no care changes indicated.|NCI|N|
C4743877|An adverse event in a newborn characterized by biochemical coagulation abnormalities with clinical signs; requiring increased monitoring.|NCI|N|
C4743878|An adverse event in a newborn characterized by biochemical or clinical coagulation abnormalities; requiring intervention.|NCI|N|
C4743879|A coagulation disorder adverse event in a newborn characterized by life threatening consequences (e.g. severe pulmonary embolism, limb ischemia, hemorrhagic shock, disseminated intravascular coagulation (DIC)); requiring urgent major care changes.|NCI|N|
C4743880|A coagulation disorder adverse event in a newborn which results in death.|NCI|N|
C4743881|An adverse event in a newborn characterized by self-limiting apnea.|NCI|N|
C4743882|An adverse event in a newborn characterized by apnea requiring stimulation and sustained fraction of inspired oxygen (FiO2) increase; requiring non-invasive ventilation; reoccurrences requiring start of or relevant increase in dose of respiratory stimulants or other major care changes.|NCI|N|
C4743883|An apneic adverse event in a newborn characterized by life-threatening respiratory and/or hemodynamic compromise; (semi-)urgent intubation required.|NCI|N|
C4743884|An apneic adverse event in a newborn which results in death.|NCI|N|
C4743885|An adverse event in a newborn characterized by clinical evidence of mildly increased respiratory distress (e.g. increased work of breathing) without significant deterioration in gas exchange (increase in partial pressure of carbon dioxide (pCO2) or decrease in oxygenation); no change in baseline functioning; no care changes required.|NCI|N|
C4743886|An adverse event in a newborn characterized by clinical evidence of increased respiratory distress without significant deterioration in gas exchange (increase in partial pressure of carbon dioxide (pCO2) or decrease in oxygenation); corrected by minor adjustments in current ventilatory support, supplemental oxygen or non-invasive support.|NCI|N|
C4743887|An adverse event in a newborn characterized by clinical evidence of increased respiratory distress with relevant deterioration in gas exchange (increase in partial pressure of carbon dioxide (pCO2) or decrease in oxygenation); requiring major care change (e.g. starting invasive support).|NCI|N|
C4743888|A respiratory insufficiency adverse event in a newborn characterized by life-threatening respiratory and/or hemodynamic compromise; requiring urgent care change (e.g. urgent intubation).|NCI|N|
C4743889|A respiratory insufficiency adverse event in a newborn which results in death.|NCI|N|
C4743890|An adverse event in a newborn characterized by radiological evidence without clinical signs; clinical evidence of mildly increased respiratory distress (e.g. increased work of breathing) without significant deterioration in gas exchange (increase in partial pressure of carbon dioxide (pCO2) or decrease in oxygenation); no supportive care required.|NCI|N|
C4743891|An adverse event in a newborn characterized by clinical evidence of increased respiratory distress without significant deterioration in gas exchange (increase in partial pressure of carbon dioxide (pCO2) or decrease in oxygenation); corrected by minor adjustments in current ventilatory support, supplemental oxygen or non-invasive support.|NCI|N|
C4743892|An adverse event in a newborn characterized by clinical evidence of increased respiratory distress with relevant deterioration in gas exchange (increase in partial pressure of carbon dioxide (pCO2) or decrease in oxygenation); requiring major care change (e.g. starting invasive support).|NCI|N|
C4743893|A respiratory distress adverse event in a newborn characterized by life-threatening respiratory and/or hemodynamic compromise; requiring urgent care change (e.g. urgent intubation).|NCI|N|
C4743894|A respiratory distress adverse event in a newborn which results in death.|NCI|N|
C4743895|An adverse event in a newborn characterized by limited hemorrhagic secretion in an endotracheal (ET) tube.|NCI|N|
C4743896|An adverse event in a newborn characterized by hemorrhagic secretion in an endotracheal (ET) tube; without relevant increase in partial pressure of carbon dioxide (pCO2) or decrease in oxygenation; requiring minor changes in care (e.g. increase in positive end-expiration pressure (PEEP)).|NCI|N|
C4743897|An adverse event in a newborn characterized by hemorrhagic secretion in an endotracheal (ET) tube; with relevant increase in partial pressure of carbon dioxide (pCO2) or decrease in oxygenation; requiring major change in ventilatory support or transfusion.|NCI|N|
C4743898|A pulmonary hemorrhage adverse event in a newborn characterized by life-threatening respiratory and/or hemodynamic compromise.|NCI|N|
C4743899|A pulmonary hemorrhage adverse event in a newborn which results in death.|NCI|N|
C4743900|An adverse event in a newborn characterized by technical evidence of increased right ventricular pressures; no clinical symptoms.|NCI|N|
C4743901|An adverse event in a newborn characterized by increased estimated right ventricular pressures; with moderate clinical symptoms; oxygenation index less than 25; minor care changes required.|NCI|N|
C4743902|An adverse event in a newborn characterized by Increased estimated right ventricular pressures; with severe clinical symptoms; oxygenation index greater than 25; major care changes required (e.g. inhaled nitric oxide (iNO)).|NCI|N|
C4743903|A persistent pulmonary hypertension adverse event in a newborn characterized by life-threatening respiratory and/or hemodynamic compromise; extracorporeal membrane oxygenation (ECMO) required; oxygenation index greater than 40.|NCI|N|
C4743904|A persistent pulmonary hypertension adverse event in a newborn which results in death.|NCI|N|
C4743905|An adverse event in a newborn characterized by radiological evidence of pneumothorax; no clinical signs; no care change required.|NCI|N|
C4743906|An adverse event in a newborn characterized by radiological evidence of pneumothorax; minor clinical signs; minor care change required (e.g. oxygen, increased monitoring).|NCI|N|
C4743907|An adverse event in a newborn characterized by radiological evidence of pneumothorax; with clinical signs; major care change required (e.g. chest drainage).|NCI|N|
C4743908|A pneumothorax adverse event in a newborn characterized by life-threatening respiratory and/or hemodynamic compromise (e.g. tension pneumothorax); urgent major care change required.|NCI|N|
C4743909|A pneumothorax adverse event in a newborn which results in death.|NCI|N|
C4743910|An adverse event in a newborn characterized by the need for supplemental oxygen at 28 days AND breathing room air at 36 weeks postmenstrual age (PMA) in infants born less than 32 weeks'' gestation; breathing room air by 56 days postnatal age in infants born greater than 32 weeks'' gestation; breathing room air at discharge. Note: For conversion of oxygen administered by different modalities to fraction of inspired oxygen (FiO2): see http://nicutools.org/MediCalcs/ActualO2.php3.|NCI|N|
C4743911|An adverse event in a newborn characterized by the need for supplemental oxygen at 28 days AND need for greater than 30% oxygen or positive pressure at 36 weeks postmenstrual age (PMA) in infants born less than 32 weeks'' gestation; need for greater than 30% oxygen or positive pressure by 56 days postnatal age in infants born greater than 32 weeks'' gestation; need for greater than 30% oxygen and/or positive pressure at discharge. Note: For conversion of oxygen administered by different modalities to fraction of inspired oxygen (FiO2): see http://nicutools.org/MediCalcs/ActualO2.php3.|NCI|N|
C4743912|An adverse event in a newborn characterized by the need for supplemental oxygen at 28 days AND need for greater than 30% oxygen AND positive pressure at 36 weeks postmenstrual age (PMA) in infants born less than 32 weeks'' gestation; need for greater than 30% oxygen AND positive pressure by 56 days postnatal age in infants born greater than 32 weeks'' gestation; need for greater than 30% oxygen AND positive pressure at discharge. Note: For conversion of oxygen administered by different modalities to fraction of inspired oxygen (FiO2): see http://nicutools.org/MediCalcs/ActualO2.php3.|NCI|N|
C4743913|A bronchopulmonary dysplasia adverse event in a newborn which results in death.|NCI|N|
C4743914|An adverse event in a newborn characterized by confirmed necrotizing enterocolitis; major care change indicated (e.g. NPO, antibiotics, non-urgent surgery).|NCI|N|
C4743915|A necrotizing enterocolitis adverse event in a newborn characterized by bowel perforation (pneumoperitoneum)(modified Bell stage IIIB); shock, disseminated intravascular coagulation (DIC), combined respiratory and metabolic acidosis (modified Bell stage IIIA); urgent major care change indicated.|NCI|N|
C4743916|A necrotizing enterocolitis adverse event in a newborn which results in death.|NCI|N|
C4743917|An adverse event in a newborn characterized by an increase of 2-4 stools per day over baseline; mild increase in ostomy output compared to baseline.|NCI|N|
C4743918|An adverse event in a newborn characterized by an increase of 4 - 6 stools per day over baseline; moderate increase in ostomy output compared to baseline.|NCI|N|
C4743919|An adverse event in a newborn characterized by an increase of 7 stools or more per day over baseline; severe increase in ostomy output compared to baseline; signs of dehydration.|NCI|N|
C4743920|A diarrhea adverse event in a newborn characterized by life-threatening consequences (e.g. severe dehydration).|NCI|N|
C4743921|A diarrhea adverse event in a newborn which results in death.|NCI|N|
C4743922|An adverse event in a newborn characterized by an increase in vomiting over baseline, self limiting.|NCI|N|
C4743923|An adverse event in a newborn characterized by a persistent increase in vomiting over baseline; no dehydration; minor changes in feeding support indicated.|NCI|N|
C4743924|An adverse event in a newborn characterized by a persistent increase in vomiting over baseline; signs of dehydration; major changes in feeding support indicated (e.g. change to total parenteral nutrition (TPN) or gavage).|NCI|N|
C4743925|A vomiting adverse event in a newborn characterized by life-threatening consequences (e. g. severe dehydration).|NCI|N|
C4743926|A vomiting adverse event in a newborn which results in death.|NCI|N|
C4743927|An adverse event in a newborn characterized by mild feeding intolerance (e.g. increased gastric residual volume or abdominal distension); without discomfort; no change in care indicated.|NCI|N|
C4743928|An adverse event in a newborn characterized by moderate feeding intolerance; resulting in minor discomfort or alteration of drinking behavior; minor care changes indicated (e.g. feeds withheld).|NCI|N|
C4743929|An adverse event in a newborn characterized by severe feeding intolerance; requiring major changes in feeding support indicated (e.g. change to total parenteral nutrition (TPN) or gavage).|NCI|N|
C4743930|A feeding intolerance adverse event in a newborn characterized by life-threatening consequences.|NCI|N|
C4743931|A feeding intolerance adverse event in a newborn which results in death.|NCI|N|
C4743932|A gastrointestinal bleeding adverse event in a newborn characterized by mild, self-limiting, bleeding; no change in care required.|NCI|N|
C4743933|A gastrointestinal bleeding adverse event in a newborn characterized by moderate bleeding; minor change in care or monitoring required.|NCI|N|
C4743934|A gastrointestinal bleeding adverse event in a newborn characterized by severe bleeding; non-life threatening hemodynamic consequences; major care change required (e.g. invasive intervention, transfusion, long term medical treatment).|NCI|N|
C4743935|A gastrointestinal bleeding adverse event in a newborn characterized by life-threatening consequences (e.g. hemorrhagic shock); urgent major care change required.|NCI|N|
C4743936|A gastrointestinal bleeding adverse event in a newborn which results in death.|NCI|N|
C4743937|An adverse event in a newborn characterized by presence of spontaneous intestinal perforation (SIP), non-urgent medical stabilization and surgical intervention indicated.|NCI|N|
C4743938|A spontaneous intestinal perforation (SIP) adverse event in a newborn characterized by life-threatening consequences (e.g. shock, organ failure); urgent intervention indicated.|NCI|N|
C4743939|A spontaneous intestinal perforation (SIP) adverse event in a newborn which results in death.|NCI|N|
C4743940|An adverse event in a newborn characterized by reduced number of stools or hard stools; no apparent discomfort.|NCI|N|
C4743941|An adverse event in a newborn characterized by reduced number of stools or hard stools; apparent discomfort; minor care changes indicated.|NCI|N|
C4743942|An adverse event in a newborn characterized by reduced number of stools or hard stools; signs of obstruction; apparent discomfort or affecting feeding; major care changes indicated (e.g. long term medical treatment, enema).|NCI|N|
C4743943|A constipation adverse event in a newborn characterized by life-threatening consequences.|NCI|N|
C4743944|A constipation adverse event in a newborn which results in death.|NCI|N|
C4743945|An adverse event in a newborn characterized by suspected sepsis with mild or ambiguous signs; anti-infectives initiated.|NCI|N|
C4743946|An adverse event in a newborn characterized by suspected sepsis with severe signs (e.g. fever, grunting); supportive treatment escalated or initiated.|NCI|N|
C4743947|A culture negative neonatal sepsis adverse event in a newborn characterized by life-threatening consequences (e.g. shock, disseminated intravascular coagulation (DIC)); urgent major care change required.|NCI|N|
C4743948|A culture negative neonatal sepsis adverse event in a newborn which results in death.|NCI|N|
C4743949|An adverse event in a newborn characterized by a positive blood culture positive with mild or ambiguous signs; anti-infectives initiated.|NCI|N|
C4743950|An adverse event in a newborn characterized by a positive blood culture positive with severe signs; supportive treatment escalated or initiated.|NCI|N|
C4743951|A culture positive sepsis adverse event in a newborn characterized by life-threatening consequences (e. g. shock, disseminated intravascular coagulation (DIC)); urgent major care change required.|NCI|N|
C4743952|A culture positive sepsis adverse event in a newborn which results in death.|NCI|N|
C4743953|An adverse event in a newborn characterized by localized rash.|NCI|N|
C4743954|An adverse event in a newborn characterized by diffuse rash or target lesions.|NCI|N|
C4743955|An adverse event in a newborn characterized by diffuse rash and vesicles or limited number of bullae or superficial ulcerations of mucous membranes limited to one site.|NCI|N|
C4743956|An adverse event in a newborn characterized by extensive or generalized bullous lesions or ulceration of mucous membranes involving two or more distinct mucosal sites or Stevens-Johnson syndrome or toxic epidermal necrosis.|NCI|N|
C4743957|A rash adverse event in a newborn which results in death.|NCI|N|
C4743958|An administration site complication adverse event in a newborn characterized by painless edema.|NCI|N|
C4743959|An administration site complication adverse event in a newborn characterized by erythema with associated symptoms (e.g., edema, pain, induration, phlebitis).|NCI|N|
C4743960|An administration site complication adverse event in a newborn characterized by ulceration or necrosis; severe tissue damage; operative intervention indicated.|NCI|N|
C4743961|An administration site complication adverse event in a newborn characterized by life-threatening consequences; urgent intervention indicated.|NCI|N|
C4743962|An administration site complication adverse event in a newborn which results in death.|NCI|N|
C4743963|An adverse event in a newborn characterized by isolated, not sustained fever, no change in baseline age-appropriate behavior.|NCI|N|
C4743964|An adverse event in a newborn characterized by fever, minor change in baseline age-appropriate behavior; minor changes in care (e.g. environmental settings, symptomatic treatment).|NCI|N|
C4743965|An adverse event in a newborn characterized by fever, major change in baseline age-appropriate behavior and without resolution to symptomatic treatment.|NCI|N|
C4743966|A febrile adverse event in a newborn characterized by life-threatening consequences.|NCI|N|
C4743967|A febrile adverse event in a newborn which results in death.|NCI|N|
C4743968|A semi-quantitative microscopic finding indicating that between 5 and 9 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.|NCI|N|
C4743969|A semi-quantitative microscopic finding indicating that between 2 and 4 percent of the nucleated cells in a peripheral leukocyte sample are immature mononuclear cells.|NCI|N|
C4743973|A nucleotide substitution at position 2305 of the coding sequence of the ERBB2 gene where guanine has been mutated to thymine.|NCI|N|
C4743974|A change in the amino acid residue at position 769 in the receptor tyrosine-protein kinase erbB-2 protein where aspartic acid has been replaced by tyrosine.|NCI|N|
C4743975|A nucleotide substitution at position 2305 of the coding sequence of the ERBB2 gene where guanine has been mutated to cytosine.|NCI|N|
C4743976|A change in the amino acid residue at position 769 in the receptor tyrosine-protein kinase erbB-2 protein where aspartic acid has been replaced by histidine.|NCI|N|
C4743977|A cytogenetic abnormality that refers to allelic gain within the chromosomal region 14q.|NCI|N|
C4743978|Pituitary blastoma is a distinctive anterior hypophyseal tumor of infants|HPO|N|
C4743979|A cutaneous melanoma that arises from the upper or lower extremity.|NCI|N|
C4743980|Cutaneous melanoma of the upper or lower extremity that has recurred after a period of remission.|NCI|N|
C4743981|A nucleotide substitution at position 962 of the coding sequence of the ERBB2 gene where adenine has been mutated to guanine.|NCI|N|
C4743982|A change in the amino acid residue at position 321 in the receptor tyrosine-protein kinase erbB-2 protein where glutamic acid has been replaced by glycine.|NCI|N|
C4743983|Cutaneous melanoma of the upper or lower extremity that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C4743984|A pulmonary complication of sickle cell disease characterized by radiographic interstitial abnormalities and impaired pulmonary function. In severe cases, pulmonary hypertension is present.|NCI|N|
C4743986|Proliferative retinopathy occurring in both eyes.|NCI|N|
C4744030|Children''s Depression Rating Scale, Revised (CDRS-R) CDRS-R raw summary score.|NCI|N|
C4744031|Children''s Depression Rating Scale, Revised (CDRS-R) CDRS-R T-score.|NCI|N|
C4744033|Children''s Depression Rating Scale, Revised (CDRS-R) CDRS-R T-score range.|NCI|N|
C4744134|Unified Huntington''s Disease Rating Scale 1999 Version (UHDRS 1999 Version) Total Motor score.|NCI|N|
C4744135|Unified Huntington''s Disease Rating Scale 1999 Version (UHDRS 1999 Version) Total Behavior score.|NCI|N|
C4744136|Unified Huntington''s Disease Rating Scale 1999 Version (UHDRS 1999 Version) Mood subscale score of the total behavior score.|NCI|N|
C4744137|Unified Huntington''s Disease Rating Scale 1999 Version (UHDRS 1999 Version) Behavior subscale score of the total behavior score.|NCI|N|
C4744138|Unified Huntington''s Disease Rating Scale 1999 Version (UHDRS 1999 Version) Psychosis subscale score of the total behavior score.|NCI|N|
C4744139|Unified Huntington''s Disease Rating Scale 1999 Version (UHDRS 1999 Version) Obsessive subscale score of the total behavior score.|NCI|N|
C4744140|Unified Huntington''s Disease Rating Scale 1999 Version (UHDRS 1999 Version) Total functional capacity score.|NCI|N|
C4744141|Unified Huntington''s Disease Rating Scale 1999 Version (UHDRS 1999 Version) Independence scale score.|NCI|N|
C4744142|Unified Huntington''s Disease Rating Scale 1999 Version (UHDRS 1999 Version) Functional checklist score.|NCI|N|
C4744289|Non-Small Cell Lung Cancer Symptom Assessment Questionnaire v1.0 (NSCLC-SAQ Version 1.0) Total score.|NCI|N|
C4744305|Symptoms of Major Depressive Disorder Scale v1.0 (SMDDS Version 1.0) Total score.|NCI|N|
C4744307|A sarcoma that arises from the soft tissues or bones of the upper or lower extremity.|NCI|N|
C4744308|A sarcoma of the soft tissues or bones of the upper or lower extremity that has recurred after a period of remission.|NCI|N|
C4744309|A sarcoma of the soft tissues or bones of the upper or lower extremity that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C4744310|A morphologic finding indicating the presence of a primitive mesenchymal stroma in a tumor sample.|NCI|N|
C4744312|A nucleotide substitution at position 34 of the coding sequence of the NRAS gene where guanine has been mutated to thymine.|NCI|N|
C4744313|A change in the amino acid residue at position 12 in the GTPase NRas protein where glycine has been replaced by cysteine.|NCI|N|
C4744314|A nucleotide substitution at position 35 of the coding sequence of the NRAS gene where guanine has been mutated to adenine.|NCI|N|
C4744315|A change in the amino acid residue at position 12 in the GTPase NRas protein where glycine has been replaced by aspartic acid.|NCI|N|
C4744316|A nucleotide substitution at position 34 of the coding sequence of the NRAS gene where guanine has been mutated to adenine.|NCI|N|
C4744317|A change in the amino acid residue at position 12 in the GTPase NRas protein where glycine has been replaced by serine.|NCI|N|
C4744318|A nucleotide substitution at position 37 of the coding sequence of the NRAS gene where guanine has been mutated to cytosine.|NCI|N|
C4744319|A change in the amino acid residue at position 13 in the GTPase NRas protein where glycine has been replaced by arginine.|NCI|N|
C4744320|A nucleotide substitution at position 38 of the coding sequence of the NRAS gene where guanine has been mutated to thymine.|NCI|N|
C4744321|A change in the amino acid residue at position 13 in the GTPase NRas protein where glycine has been replaced by valine.|NCI|N|
C4744323|A nucleotide substitution at position 1924 of the coding sequence of the KIT gene where adenine has been mutated to guanine.|NCI|N|
C4744324|A change in the amino acid residue at position 642 in the mast/stem cell growth factor receptor Kit protein where lysine has been replaced by glutamic acid.|NCI|N|
C4744325|A nucleotide substitution at position 1939 of the coding sequence of the KIT gene where cytosine has been mutated to thymine.|NCI|N|
C4744326|A change in the amino acid residue at position 647 in the mast/stem cell growth factor receptor Kit protein where leucine has been replaced by phenylalanine.|NCI|N|
C4744327|A nucleotide substitution at position 1958 of the coding sequence of the KIT gene where thymine has been mutated to cytosine.|NCI|N|
C4744328|A change in the amino acid residue at position 653 in the mast/stem cell growth factor receptor Kit protein where isoleucine has been replaced by threonine.|NCI|N|
C4744329|A nucleotide substitution at position 1961 of the coding sequence of the KIT gene where thymine has been mutated to cytosine.|NCI|N|
C4744330|A change in the amino acid residue at position 654 in the mast/stem cell growth factor receptor Kit protein where valine has been replaced by alanine.|NCI|N|
C4744331|A change in the amino acid residue at position 813 in the mast/stem cell growth factor receptor Kit protein where leucine has been replaced by proline.|NCI|N|
C4744332|A change in the amino acid residue at position 818 in the mast/stem cell growth factor receptor Kit protein where lysine has been replaced by glutamine.|NCI|N|
C4744333|A carcinoma that has spread from its original site of growth to nearby tissues or lymph nodes and is not amenable to surgical resection.|NCI|N|
C4744334|A renal cell carcinoma that has spread from its original site of growth to nearby tissues or lymph nodes and is not amenable to surgical resection.|NCI|N|
C4744335|A nucleotide substitution at position 2458 of the coding sequence of the KIT gene where guanine has been mutated to thymine.|NCI|N|
C4744336|A nucleotide substitution at position 2466 of the coding sequence of the KIT gene where thymine has been mutated to any purine (adenine or guanine).|NCI|N|
C4744337|A change in the amino acid residue at position 822 in the mast/stem cell growth factor receptor Kit protein where asparagine has been replaced by lysine.|NCI|N|
C4744338|A nucleotide substitution at position 2466 of the coding sequence of the KIT gene where thymine has been mutated to guanine.|NCI|N|
C4744339|A nucleotide substitution at position 2466 of the coding sequence of the KIT gene where thymine has been mutated to adenine.|NCI|N|
C4744340|A nucleotide substitution at position 2464 of the coding sequence of the KIT gene where adenine has been mutated to thymine.|NCI|N|
C4744341|A change in the amino acid residue at position 822 in the mast/stem cell growth factor receptor Kit protein where asparagine has been replaced by tyrosine.|NCI|N|
C4744342|A nucleotide substitution at position 2485 of the coding sequence of the KIT gene where guanine has been mutated to cytosine.|NCI|N|
C4744343|A change in the amino acid residue at position 829 in the mast/stem cell growth factor receptor Kit protein where alanine has been replaced by proline.|NCI|N|
C4744346|A nucleotide substitution at position 2492 of the coding sequence of the KIT gene where thymine has been mutated to cytosine.|NCI|N|
C4744347|A change in the amino acid residue at position 840 in the mast/stem cell growth factor receptor Kit protein where serine has been replaced by isoleucine.|NCI|N|
C4744348|A nucleotide substitution at position 2537 of the coding sequence of the KIT gene where adenine has been mutated to guanine.|NCI|N|
C4744349|A change in the amino acid residue at position 846 in the mast/stem cell growth factor receptor Kit protein where tyrosine has been replaced by cysteine.|NCI|N|
C4744350|A change in the amino acid residue at position 850 in the mast/stem cell growth factor receptor Kit protein where serine has been replaced by glycine.|NCI|N|
C4744351|A change in the amino acid residue at position 852 in the mast/stem cell growth factor receptor Kit protein where valine has been replaced by isoleucine.|NCI|N|
C4744352|A nucleotide substitution at position 2576 of the coding sequence of the KIT gene where thymine has been mutated to cytosine.|NCI|N|
C4744353|A change in the amino acid residue at position 862 in the mast/stem cell growth factor receptor Kit protein where leucine has been replaced by proline.|NCI|N|
C4744358|A pancreatic adenocarcinoma that has spread from its original site of growth to nearby tissues or lymph nodes and is not amenable to surgical resection.|NCI|N|
C4744363|A pituitary neoplasm composed of mature ganglionic cells admixed with pituitary neoplastic neuroendocrine cells.|NCI|N|
C4744364|A rare extraventricular neurocytoma (WHO grade 2) of the hypothalamic-pituitary area. (WHO 2017)|NCI|N|
C4744365|An extremely rare paraganglioma arising from chief cells of the dispersed paraganglia of the sellar region. (WHO)|NCI|N|
C4744367|A rare neuroblastoma arising from the sella turcica.|NCI|N|
C4744368|A very rare, low-grade neoplasm that arises from the posterior pituitary. It is composed of epithelioid and oncocytic cells forming sheets and fascicles. It shows histopathological features reminiscent of ependymomas, including perivascular pseudorosettes and true rosettes. There is no evidence of necrosis or increased mitotic activity. Despite the presence of ependymal histopathological features, these neoplasms probably are not related to ependymomas. Their prognosis is unknown.|NCI|N|
C4744369|A rare meningioma that arises from the sellar region.|NCI|N|
C4744371|A rare meningioma arising from the intrasellar region.|NCI|N|
C4744373|An extremely rare schwannoma that arises from the sellar region.|NCI|N|
C4744374|A chordoma that arises from the sellar region.|NCI|N|
C4744375|A chondroid chordoma that arises from the sellar region.|NCI|N|
C4744376|A dedifferentiated chordoma that arises from the sellar region.|NCI|N|
C4744377|An extremely rare meningeal solitary fibrous tumor that arises from the sellar region.|NCI|N|
C4744378|A malignant neoplasm that has metastasized to the sellar region from another anatomic site.|NCI|N|
C4744380|A primary or metastatic malignant neoplasm that affects the skull base.|NCI|N|
C4744381|A neoplasm that arises the skull base and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C4744383|A rare non-Hodgkin lymphoma that arises from the pituitary gland. The majority are diffuse large B-cell lymphomas.|NCI|N|
C4744384|A rare diffuse large B-cell lymphoma that arises from the pituitary gland.|NCI|N|
C4744385|A germ cell tumor that arises from or adjacent to the sellar region.|NCI|N|
C4744386|A germinoma that arises from or adjacent to the sellar region.|NCI|N|
C4744387|A germinoma that arises from the suprasellar region.|NCI|N|
C4744388|A yolk sac tumor that arises from or adjacent to the sellar region.|NCI|N|
C4744389|An embryonal carcinoma that arises from or adjacent to the sellar region.|NCI|N|
C4744390|A choriocarcinoma that arises from or adjacent to the sellar region.|NCI|N|
C4744391|A teratoma that arises from or adjacent to the sellar region.|NCI|N|
C4744392|A mature teratoma that arises from or adjacent to the sellar region.|NCI|N|
C4744393|An immature teratoma that arises from or adjacent to the sellar region.|NCI|N|
C4744394|A teratoma with malignant transformation that arises from or adjacent to the sellar region.|NCI|N|
C4744395|A mixed germ cell tumor that arises from or adjacent to the sellar region.|NCI|N|
C4744398|The reemergence of endometrial clear cell adenocarcinoma after a period of remission.|NCI|N|
C4744399|The reemergence of uterine corpus carcinosarcoma after a period of remission.|NCI|N|
C4744400|The reemergence of endometrial mixed cell adenocarcinoma after a period of remission.|NCI|N|
C4744401|A finding indicating the presence of an invasive malignant neoplasm involving the respiratory tract and the upper digestive tract.|NCI|N|
C4744408|Low grade glioma that is not amenable to surgical removal.|NCI|N|
C4744416|A malignant neoplasm that arises from the pancreas and has metastasized to another anatomic site.|NCI|N|
C4744423|A neoplastic lesion with neuroendocrine differentiation and well differentiated histological features.|NCI|N|
C4744424|A neoplastic lesion with neuroendocrine differentiation and histological features of intermediate grade.|NCI|N|
C4744425|A neoplastic lesion with neuroendocrine differentiation and poorly differentiated histological features.|NCI|N|
C4744426|A neoplastic lesion with neuroendocrine differentiation and histological features of low grade.|NCI|N|
C4744427|A neuroendocrine carcinoma that has metastasized from its original site of growth to distal anatomic sites or is no longer responding to treatment.|NCI|N|
C4744428|A sarcoma that arises from the anatomic structures that surround the lungs and the pleura.|NCI|N|
C4744429|A gastric adenocarcinoma that has spread from its original site of growth to nearby tissues or lymph nodes and is not amenable to surgical resection.|NCI|N|
C4744430|Desmoid fibromatosis that has recurred after a period of remission.|NCI|N|
C4744431|Desmoid fibromatosis that is not amenable to surgical resection.|NCI|N|
C4744438|Lung non-small cell carcinoma that is not amenable to surgical resection.|NCI|N|
C4744439|Lung carcinoma that is not amenable to surgical resection.|NCI|N|
C4744440|Digestive system carcinoma that is not amenable to surgical resection.|NCI|N|
C4744441|A cytogenetic abnormality that refers to deletion of chromosome bands 21-22 on the short arm of chromosome 3.|NCI|N|
C4744442|A cytogenetic abnormality that refers to deletion of chromosome bands 25-26 on the short arm of chromosome 3.|NCI|N|
C4744443|A cytogenetic abnormality that refers to deletion of chromosome bands 13-14 on the short arm of chromosome 3.|NCI|N|
C4744444|Lung adenocarcinoma that has spread from its original site of growth to another anatomic site.|NCI|N|
C4744445|Waldenstrom macroglobulinemia with serum IgM monoclonal protein equal or more than 3 g/dL and/or at least 10% bone marrow lymphoplasmacytic infiltration but no evidence of constitutional symptoms, symptomatic anemia, or hyperviscosity. (Blood 2008, 112:2709)|NCI|N|
C4744446|A morphologic finding indicating the presence of a lymphoplasmacytic infiltrate in a bone marrow specimen.|NCI|N|
C4744449|A malignant neoplasm that has spread to the thoracic cavity from another anatomic site.|NCI|N|
C4744458|A pancreatic neuroendocrine carcinoma that has spread from its original site of growth to nearby tissues or lymph nodes.|NCI|N|
C4744459|A neuroendocrine carcinoma that arises from any part of the digestive system and has spread to nearby tissues or lymph nodes.|NCI|N|
C4744460|A neuroendocrine carcinoma that arises from any part of the digestive system and is not amenable to surgical resection.|NCI|N|
C4744461|A neuroendocrine carcinoma that arises from any part of the digestive system and has metastasized to another anatomic site.|NCI|N|
C4744462|A neuroendocrine carcinoma that arises from any part of the digestive system and does not respond to treatment.|NCI|N|
C4744463|The reemergence of a neuroendocrine carcinoma in any part of the digestive system after a period of remission.|NCI|N|
C4744465|A score on the Modified Ryan Scheme for Tumor Regression that indicates a near complete response, defined as the presence of single cells or rare small groups of cancer cells.|NCI|N|
C4744466|A score on the Modified Ryan Scheme for Tumor Regression that indicates a partial response, defined as the presence of residual cancer with evident tumor regression but more than single cells or rare small groups of cancer cells.|NCI|N|
C4744467|A score on the Modified Ryan Scheme for Tumor Regression that indicates poor or no response, defined as extensive residual cancer with no evident tumor regression.|NCI|N|
C4744469|A hemangioblastoma that arises from the cerebrum.|NCI|N|
C4744470|A hemangioblastoma that arises from the medulla oblongata.|NCI|N|
C4744471|A malignant urinary system neoplasm that has developed in relatives of patients with a history of malignant urinary system neoplasm.|NCI|N|
C4744472|Chromophobe renal cell carcinoma that develops in a patient with Birt-Hogg-Dube syndrome.|NCI|N|
C4744473|A cystadenoma that arises from the broad ligament. It is characterized by the presence of small papillary projections in the inner surface of the cysts. It may be sporadic or associated with von Hippel-Lindau disease.|NCI|N|
C4744474|A cystadenoma that arises from the epididymis. It is characterized by the presence of small papillary projections in the inner surface of the cysts. It may be sporadic or associated with von Hippel-Lindau disease.|NCI|N|
C4744475|A rare thyroid gland follicular adenoma composed predominantly of spindle cells.|NCI|N|
C4744476|A thyroid gland follicular adenoma seen in patients treated with minocycline. The tumors have black discoloration visible on macroscopic examination and cytoplasmic accumulation of black pigment. (WHO 2017)|NCI|N|
C4744477|A color change to black.|NCI|N|
C4744478|A morphologic finding indicating the presence of black pigment within the cytoplasm of cells in a tissue sample.|NCI|N|
C4744479|A morphological finding indicating the depth of tumor invasion into the submucosal tissue.|NCI|N|
C4744480|Submucosal tumor invasion into the upper third of the submucosal tissue.|NCI|N|
C4744481|Submucosal tumor invasion into the middle third of the submucosal tissue.|NCI|N|
C4744482|Submucosal tumor invasion into the lower third of the submucosal tissue.|NCI|N|
C4744483|The reemergence of chordoma after a period of remission.|NCI|N|
C4744484|An encapsulated or well-circumscribed thyroid gland tumor composed of well-differentiated follicular cells with no nuclear features of papillary thyroid carcinoma and with questionable capsular or vascular invasion. This is a tumor indeterminate between follicular adenoma and follicular carcinoma. (WHO)|NCI|N|
C4744485|A neoplastic lesion in which the adjacent tissues, surrounding capsule, or vessels may or may not be invaded by neoplastic cells.|NCI|N|
C4744486|A blood concentration of prostate specific antigen greater than or equal to 0.8 ng/mL.|NCI|N|
C4744487|Visual pathway glioma that is resistant to treatment.|NCI|N|
C4744488|The reemergence of neurofibromatosis type 1 after a period of remission.|NCI|N|
C4744489|Neurofibromatosis type 1 that is resistant to treatment.|NCI|N|
C4744490|Malignant peripheral nerve sheath tumor that is resistant to treatment.|NCI|N|
C4744494|A molecular abnormality indicating rearrangement of the ETV6 gene.|NCI|N|
C4744495|A semi-quantitative microscopic finding indicating that 2 percent or more of the nucleated cells in a peripheral leukocyte sample are immature mononuclear cells.|NCI|N|
C4744498|A semi-quantitative microscopic finding indicating that more than 5 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells of myeloid origin.|NCI|N|
C4744500|A semiquantitative finding indicating that the concentration of testosterone in a sample is less than or equal to 100 ng/dL.|NCI|N|
C4744503|A blood concentration of prostate specific antigen less than or equal to 4 ng/mL.|NCI|N|
C4744504|A change in the nucleotide sequence of the HDAC2 gene that is associated with increased risk of disease.|NCI|N|
C4744505|A change in the nucleotide sequence of the RAD54L gene that is associated with increased risk of disease.|NCI|N|
C4744506|A change in the nucleotide sequence of the GEN1 gene that is associated with increased risk of disease.|NCI|N|
C4744507|A change in the nucleotide sequence of the RAD51 gene that is associated with increased risk of disease.|NCI|N|
C4744508|A change in the nucleotide sequence of the ERCC3 gene that is associated with increased risk of disease.|NCI|N|
C4744509|A change in the nucleotide sequence of the ABRAXAS1 gene that is associated with increased risk of disease.|NCI|N|
C4744511|A change in the nucleotide sequence of the FANCG gene.|NCI|N|
C4744513|A change in the nucleotide sequence of the FANCB gene.|NCI|N|
C4744514|A change in the nucleotide sequence of the FANCI gene.|NCI|N|
C4744515|An indication that a tumor sample has a high number of genetic mutations per megabase (mb) of sequenced DNA.|NCI|N|
C4744517|A molecular abnormality indicating rearrangement of a receptor tyrosine kinase family gene.|NCI|N|
C4744518|A molecular abnormality indicating the presence of multiple copies of a receptor tyrosine kinase family gene.|NCI|N|
C4744519|A typical papillary thyroid gland carcinoma that is totally surrounded by a fibrous capsule, which may be intact or only focally infiltrated by tumor growth. It accounts for about 10% of all cases of papillary thyroid gland carcinoma and has an excellent prognosis. Regional nodal metastases may be present, but bloodborne metastases are rare. The survival rate is nearly 100%. (WHO 2017)|NCI|N|
C4744520|An anaplastic astrocytoma occurring in the frontal lobe.|NCI|N|
C4744521|An anaplastic astrocytoma occurring in the temporal lobe.|NCI|N|
C4744522|A pilocytic astrocytoma occurring in the third ventricle.|NCI|N|
C4744523|A pilomyxoid astrocytoma occurring in the hypothalamic-chiasmatic region.|NCI|N|
C4744524|A medulloblastoma occurring in the fourth ventricle.|NCI|N|
C4744525|A germinoma that arises from the third ventricle.|NCI|N|
C4744526|A pleomorphic xanthoastrocytoma that arises from the supratentorial region of the brain.|NCI|N|
C4744527|A pleomorphic xanthoastrocytoma that arises from the temporal lobe of the brain.|NCI|N|
C4744530|Papillary carcinoma of the thyroid gland with focal areas of spindle cell metaplasia.|NCI|N|
C4744531|A change in the nucleotide sequence of the BRAF gene that inhibits expression or results in the translation of either low-activity or inactive forms of the serine/threonine-protein kinase B-raf protein.|NCI|N|
C4744533|A change in the nucleotide sequence of the SETD2 gene that inhibits expression or results in the translation of either low-activity or inactive forms of the histone-lysine methyltransferase SETD2 protein.|NCI|N|
C4744534|An indication that TP53 expression or activity has not been detected in a sample.|NCI|N|
C4744535|A rare variant of papillary thyroid gland carcinoma in which more than 30% of cells have hobnail features. (WHO)|NCI|N|
C4744544|A carcinoma that arises from the vagina and has metastasized to another anatomic site.|NCI|N|
C4744545|A carcinoma that arises from the vulva and has metastasized to another anatomic site.|NCI|N|
C4744547|A carcinoma that arises from the adrenal cortex and has metastasized to another anatomic site.|NCI|N|
C4744548|A carcinoma that arises from the esophagus and has metastasized to another anatomic site.|NCI|N|
C4744549|Chronic atrophic gastritis that is caused by autoimmune destruction of parietal cells in the stomach resulting in hypochlorhydria and decreased production of intrinsic factor.|NCI|N|
C4744550|A keratinizing squamous cell carcinoma that arises from the nasopharynx and has metastasized to another anatomic site.|NCI|N|
C4744551|An undifferentiated carcinoma that arises from the nasopharynx and has metastasized to another anatomic site.|NCI|N|
C4744552|A carcinoma that arises from the pharynx and has metastasized to another anatomic site.|NCI|N|
C4744553|A carcinoma that arises from the hypopharynx and has metastasized to another anatomic site.|NCI|N|
C4744554|A subjective characterization of the phenomenon of dysplasia, based on microscopic examination of the architectural and/or cytological changes in a tissue sample, that is determined to be high.|NCI|N|
C4744555|A subjective characterization of the phenomenon of dysplasia, based on microscopic examination of the architectural and/or cytological changes in a tissue sample, that is determined to be low.|NCI|N|
C4744556|A carcinoma that arises from the lip and/or oral cavity and has metastasized to another anatomic site.|NCI|N|
C4744557|A carcinoma that arises from the oral cavity and has metastasized to another anatomic site.|NCI|N|
C4744558|A carcinoma that arises from the lip and has metastasized to another anatomic site.|NCI|N|
C4744559|An adenoid cystic carcinoma that arises from the oral cavity and has metastasized to another anatomic site.|NCI|N|
C4744560|A squamous cell carcinoma that arises from the lip and has metastasized to another anatomic site.|NCI|N|
C4744561|An adenosquamous carcinoma that arises from the lung and has metastasized to another anatomic site.|NCI|N|
C4744562|A non-small cell carcinoma that arises from the lung and has metastasized to another anatomic site.|NCI|N|
C4744563|A small cell carcinoma that arises from the lung and has metastasized to another anatomic site.|NCI|N|
C4744564|A carcinoma that arises from the colon or rectum and has metastasized to another anatomic site.|NCI|N|
C4744565|A carcinoma that arises from the colon and has metastasized to another anatomic site.|NCI|N|
C4744566|A carcinoma that arises from the rectum and has metastasized to another anatomic site.|NCI|N|
C4744567|A follicular carcinoma that arises from the thyroid gland and has metastasized to another anatomic site.|NCI|N|
C4744568|A papillary carcinoma that arises from the thyroid gland and has metastasized to another anatomic site.|NCI|N|
C4744569|The reemergence of a blastic plasmacytoid dendritic cell neoplasm after a period of remission.|NCI|N|
C4744570|Blastic plasmacytoid dendritic cell neoplasm that is resistant to treatment.|NCI|N|
C4744584|An anaplastic oligodendroglioma occurring in the frontal lobe.|NCI|N|
C4744586|An encapsulated follicular carcinoma of the thyroid gland which shows angioinvasion.|NCI|N|
C4744587|A follicular carcinoma of the thyroid gland with extension into surrounding thyroid or extrathyroid tissues.|NCI|N|
C4744602|A response indicating that an individual is or was able to see well enough without glasses or contact lenses.|NCI|N|
C4744603|A response indicating that an individual is able to see well enough with glasses or contact lenses.|NCI|N|
C4744604|A response indicating that an individual is or was unable to see well enough even with glasses or contact lenses.|NCI|N|
C4744605|A response indicating that an individual is or was able to hear what was said with hearing aids.|NCI|N|
C4744606|A response indicating that an individual is or was unable to hear what was said even with hearing aids.|NCI|N|
C4744607|A response indicating that an individual is or was unable to hear what was said, but was not wearing their hearing aids.|NCI|N|
C4744608|A response indicating that an individual is or was able to be understood completely.|NCI|N|
C4744609|A response indicating that an individual is or was able to be understood partially.|NCI|N|
C4744610|A response indicating that an individual is or was unable to be understood.|NCI|N|
C4744611|A response indicating that an individual is or was happy and interested in life.|NCI|N|
C4744612|A response indicating that an individual is or was somewhat happy.|NCI|N|
C4744613|A response indicating that an individual is or was somewhat unhappy.|NCI|N|
C4744614|A response indicating that an individual is or was very unhappy.|NCI|N|
C4744615|A response indicating that an individual is or was so unhappy that life was not worthwhile.|NCI|N|
C4744616|An adenocarcinoma that arises from the gastroesophageal junction and has not spread to other anatomic sites.|NCI|N|
C4744617|A carcinoma that arises from the stomach and has not spread to other anatomic sites.|NCI|N|
C4744623|A response indicating that an individual is or was free of pain or discomfort.|NCI|N|
C4744624|A response indicating that an individual has or had mild to moderate pain or discomfort, but it did not prevent activities.|NCI|N|
C4744625|A response indicating that an individual has or had moderate pain or discomfort that prevented some activities.|NCI|N|
C4744626|A response indicating that an individual has or had moderate to severe pain or discomfort that prevented some activities.|NCI|N|
C4744627|A response indicating that an individual has or had severe pain or discomfort that prevented most activities.|NCI|N|
C4744628|A response indicating that an individual is or was able to walk around the neighborhood without difficulty and without walking equipment.|NCI|N|
C4744629|A response indicating that an individual is or was able to walk around the neighborhood with difficulty, but did not require walking equipment or the help of another person.|NCI|N|
C4744630|A response indicating that an individual is or was able to walk around the neighborhood with walking equipment, but without the help of another person.|NCI|N|
C4744631|A response indicating that an individual is or was able to walk only short distances with walking equipment and required a wheelchair to get around the neighborhood.|NCI|N|
C4744632|A response indicating that an individual is or was unable to walk alone, even with walking equipment, but was able to walk short distances with the help of another person and required a wheelchair to get around the neighborhood.|NCI|N|
C4744634|A response indicating that an individual has limitations in the use of their hands or fingers, but does not require special tools or the help of another person.|NCI|N|
C4744635|A response indicating that an individual has full use of both hands and all 10 fingers.|NCI|N|
C4744636|A response indicating that an individual has limitations in the use of their hands or fingers, but remains independent through the use of special tools.|NCI|N|
C4744637|A response indicating that an individual has limitations in the use of their hands or fingers that requires the help of another person for some tasks, even with use of special tools.|NCI|N|
C4744638|A response indicating that an individual has limitations in the use of their hands or fingers that requires the help of another person for most tasks, even with use of special tools.|NCI|N|
C4744639|A response indicating that an individual has limitations in the use of their hands or fingers that requires the help of another person for all tasks, even with use of special tools.|NCI|N|
C4744640|A response indicating that an individual is or was able to remember most things.|NCI|N|
C4744641|A response indicating that an individual is or was somewhat forgetful.|NCI|N|
C4744642|A response indicating that an individual is or was very forgetful.|NCI|N|
C4744643|A response indicating that an individual is or was able to think clearly and solve day to day problems.|NCI|N|
C4744644|A response indicating that an individual has or had a little difficulty when trying to think and solve day to day problems.|NCI|N|
C4744645|A response indicating that an individual has or had some difficulty when trying to think and solve day to day problems.|NCI|N|
C4744646|A response indicating that an individual has or had great difficulty when trying to think and solve day to day problems.|NCI|N|
C4744647|A response indicating that an individual is or was unable to think or solve day-to-day problems.|NCI|N|
C4744648|A response indicating that an individual is or was able to eat, bathe, dress, and use the toilet normally.|NCI|N|
C4744649|A response indicating that an individual is or was able to eat, bathe, dress, and use the toilet independently, but with difficulty.|NCI|N|
C4744650|A response indicating that an individual is or was able to eat, bathe, dress, and use the toilet independently, but required mechanical equipment.|NCI|N|
C4744651|A response indicating that an individual required help from another person to eat, bathe, dress, or use the toilet.|NCI|N|
C4744652|A response indicating that an individual is or was generally happy and free from worry.|NCI|N|
C4744653|A response indicating that an individual is or was occasionally fretful, angry, irritable, anxious, or depressed.|NCI|N|
C4744655|A response indicating that an individual is or was often fretful, angry, irritable, anxious, or depressed.|NCI|N|
C4744656|A response indicating that an individual is or was almost always fretful, angry, irritable, anxious, or depressed.|NCI|N|
C4744657|A response indicating that an individual is or was extremely fretful, angry, irritable, anxious, or depressed, to the point of needing professional help.|NCI|N|
C4744658|A response indicating that an individual has or had occasional pain or discomfort that was relieved by non-prescription drugs or self-control activities, without disruption of normal activities.|NCI|N|
C4744659|A response indicating that an individual has or had frequent pain or discomfort that was relieved by oral medicines, with occasional disruption of normal activities.|NCI|N|
C4744660|A response indicating that an individual has or had frequent pain or discomfort that required prescription narcotics for relief, with frequent disruption of normal activities.|NCI|N|
C4744661|A response indicating that an individual has or had severe pain or discomfort that was not relieved by drugs and constantly disrupted normal activities.|NCI|N|
C4744670|A molecular abnormality referring to the loss of at least one copy of the SH2B3 gene.|NCI|N|
C4744671|A change in the nucleotide sequence of the IL7R gene.|NCI|N|
C4744674|An aggressive non-Hodgkin lymphoma that is resistant to treatment.|NCI|N|
C4744675|A morphologic finding indicating the presence of tumor cell necrosis involving the entire neoplastic cellular infiltrate in a tissue sample. Viable tumor cells are absent.|NCI|N|
C4744676|A morphologic finding indicating the presence of focal or diffuse tumor cell necrosis involving part of the neoplastic cellular infiltrate in a tissue sample. Viable tumor cells are still present.|NCI|N|
C4744677|A morphologic finding indicating the absence of focal or diffuse tumor cell necrosis in a tissue sample.|NCI|N|
C4744678|The inability of a patient to received their nutrition other than through a feeding tube.|NCI|N|
C4744679|An indication of the type of a hallucination and its impact on a subject.|NCI|N|
C4744681|Persistent verbal or visual hallucinations throughout the day, or most area of functioning are disrupted by these hallucinations.|NCI|N|
C4744688|Experiences daily hallucinations, or some areas of functioning are disrupted by hallucinations.|NCI|N|
C4744689|A cytomegalovirus infection that has recurred after a period of remission.|NCI|N|
C4744690|An adenovirus infection that has recurred after a period of remission.|NCI|N|
C4744698|A rare primary carcinoma of the thyroid gland characterized by the presence of clusters of malignant epithelial cells associated with abundant extracellular mucin deposition.|NCI|N|
C4744699|A rare thymoma arising within or is attached to the thyroid gland.|NCI|N|
C4744700|A pancreatic adenocarcinoma that has spread from its original site of growth to nearby tissues or lymph nodes.|NCI|N|
C4744704|An alveolar soft part sarcoma involving the tongue. It usually occurs in children.|NCI|N|
C4744705|An alveolar soft part sarcoma involving the orbit. It usually occurs in children.|NCI|N|
C4744706|An alveolar soft part sarcoma involving the bladder.|NCI|N|
C4744707|A liposarcoma that arises from the colon.|NCI|N|
C4744708|A sarcoma that arises from the parotid gland.|NCI|N|
C4744709|A liposarcoma that arises from the parotid gland.|NCI|N|
C4744710|A liposarcoma involving the scrotum.|NCI|N|
C4744711|A sarcoma involving the scrotum.|NCI|N|
C4744712|A prostatic carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C4744713|A prostatic carcinoma that has spread from its original site of growth to nearby tissues or lymph nodes.|NCI|N|
C4744714|A prostatic adenocarcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C4744715|A prostatic adenocarcinoma that has spread from its original site of growth to nearby tissues or lymph nodes.|NCI|N|
C4744716|A prostatic carcinoma that has spread from its original site of growth to nearby tissues or lymph nodes and is not amenable to surgical resection.|NCI|N|
C4744717|A prostatic adenocarcinoma that has spread from its original site of growth to nearby tissues or lymph nodes and is not amenable to surgical resection.|NCI|N|
C4744720|Acute myeloid leukemia characterized by poor response to induction chemotherapy and poor long-term survival following treatment with consolidation chemotherapy.|NCI|N|
C4744721|Chronic myelomonocytic leukemia with cytogenetic abnormalities including trisomy 8, complex karyotypes, monosomy 7, and del17q. Mutations in RUNX1, NRAS, SETBP1, and ASXL1 are independently associated with inferior overall survival time. (Oncology Letters 15:7132-7138, 2018)|NCI|N|
C4744722|A cervical carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C4744723|A cervical carcinoma that has spread from its original site of growth to nearby tissues or lymph nodes.|NCI|N|
C4744725|A cervical adenocarcinoma that has spread from its original site of growth to nearby tissues or lymph nodes.|NCI|N|
C4744726|A cervical adenocarcinoma that has spread from its original site of growth to nearby tissues or lymph nodes and is not amenable to surgical resection.|NCI|N|
C4744727|A cervical carcinoma that has spread from its original site of growth to nearby tissues or lymph nodes and is not amenable to surgical resection.|NCI|N|
C4744729|A cervical adenocarcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C4744754|A rare schwannoma that arises from the thyroid gland.|NCI|N|
C4744755|A rare benign vascular neoplasm that arises from the thyroid gland. This category includes hemangiomas, cavernous hemangiomas, and lymphangiomas.|NCI|N|
C4744756|A rare hemangioma that arises from the thyroid gland.|NCI|N|
C4744757|A rare cavernous hemangioma that arises from the thyroid gland.|NCI|N|
C4744758|An extremely rare lymphangioma that arises from the thyroid gland.|NCI|N|
C4744759|A leiomyoma that arises from the thyroid gland.|NCI|N|
C4744760|A leiomyosarcoma that arises from the thyroid gland.|NCI|N|
C4744761|A rare solitary fibrous tumor that arises from the thyroid gland.|NCI|N|
C4744762|A cytogenetic abnormality that refers to any translocation involving the RARA gene.|NCI|N|
C4744765|A malignant, usually aggressive tumor composed of atypical, neoplastic melanocytes that occurs in a cat.|NCI|N|
C4744783|A cytogenetic abnormality that refers to the deletion of the chromosomal band 11q22.3, which also results in the deletion of the ATM gene.|NCI|N|
C4744784|An indication as to whether the Individual Case Safety Report (ICSR) contains at least one suspected medical product that is a combination product.|NCI|N|
C4744786|A semi-quantitative microscopic finding indicating that more than 50 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells of lymphoid origin.|NCI|N|
C4744789|A semi-quantitative microscopic finding indicating that 5 percent or less of the nucleated cells in a bone marrow sample are neoplastic plasma cells.|NCI|N|
C4744790|A semi-quantitative microscopic finding indicating that 5 percent or more of the nucleated cells in a peripheral leukocyte sample are immature mononuclear cells of lymphoid origin.|NCI|N|
C4744791|A finding indicating that the blood concentration of prostate specific antigen in a subject''s sample has increased by 2 ng/mL over the lowest value recorded for a sample from that subject.|NCI|N|
C4744800|A tumor mass that is located in the airways.|NCI|N|
C4744801|A rare histiocytic and dendritic cell neoplasm that affects the thyroid gland.|NCI|N|
C4744802|Langerhans cell histiocytosis involving the thyroid gland focally or diffusely. It is exceedingly rare and usually occurs in patients with multifocal disease.|NCI|N|
C4744803|Sinus histiocytosis with massive lymphadenopathy affecting the thyroid gland. It is rare and is usually accompanied by involvement of cervical lymph nodes.|NCI|N|
C4744804|A teratoma that contains mature tissue elements and a limited amount of immature tissue elements.|NCI|N|
C4744816|A death attributed to any cause other than the progression of a cancer-related pathologic condition.|NCI|N|
C4744833|The reemergence of primary peritoneal serous adenocarcinoma after a period of remission.|NCI|N|
C4744834|The reemergence of primary peritoneal low grade serous adenocarcinoma after a period of remission.|NCI|N|
C4744835|The reemergence of ovarian low-grade serous adenocarcinoma after a period of remission.|NCI|N|
C4744836|The reemergence of low grade fallopian tube serous adenocarcinoma after a period of remission.|NCI|N|
C4744838|A morphologic finding indicating the presence of a malignant primitive cellular infiltrate in a tissue sample.|NCI|N|
C4744841|A very rare renal cell carcinoma that usually affects young adults. It is characterized by mutations in one of the four subunits of the SDH complex (SDHA, SDHB, SDHC, or SDHD gene). Most frequently, the mutations occur in the SDHB subunit. It has a relatively good prognosis.|NCI|N|
C4744843|Partial or complete blockage of the bronchial lumen by a pathological process that occurs within the bronchus.|NCI|N|
C4744849|Kaposi sarcoma that is resistant to treatment.|NCI|N|
C4744850|Kaposi sarcoma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C4744854|A benign or malignant neoplasm that affects the genitourinary system.|NCI|N|
C4744855|A neoplasm that arises from the genitourinary system and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C4744856|A neuroendocrine neoplasm that has spread from its original site of growth to another anatomic site.|NCI|N|
C4744857|A neuroendocrine neoplasm that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C4744858|A carcinoid tumor that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C4744859|A pancreatic neuroendocrine tumor that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C4744861|A neuroendocrine neoplasm that arises from any part of the digestive system and has metastasized to another anatomic site.|NCI|N|
C4744862|A neuroendocrine neoplasm that arises from the breast and has metastasized to another anatomic site.|NCI|N|
C4744872|An indication as to whether bowel obstruction has occurred.|NCI|N|
C4744873|An indication as to whether bowel perforation has occurred.|NCI|N|
C4744874|An indication as to whether lymphovascular invasion by tumor cells has occurred.|NCI|N|
C4744891|The use of injection needles that have been previously used.|NCI|N|
C4744892|An indication as to whether one or more scored mutations of interest that may confer susceptibility in the microorganism is present.|NCI|N|
C4744893|An indication that a treatment or therapy was changed or discontinued because it is no longer clinically beneficial to the subject or patient, based on the primary therapeutic objective for which it is being administered and assessed. (Trial Design and Objectives for Castration-Resistant Prostate Cancer: Updated Recommendations From the Prostate Cancer Clinical Trials Working Group 3. Scher HI, Morris MJ, Stadler WM, et al.; Prostate Cancer Clinical Trials Working Group 3. J Clin Oncol. 2016 Apr 20;34(12):1402-18.)|NCI|N|
C4744921|A subjective description of the menstrual flow rate during a menstrual cycle.|NCI|N|
C4744922|The number of days during which menses is expelled from the uterus.|NCI|N|
C4744923|An indication as to whether the female subject has had an induced abortion procedure.|NCI|N|
C4744924|An indication as to whether the subject has delivered live-born offspring.|NCI|N|
C4744928|An increase in size, volume, or quantity in comparison to nadir.|NCI|N|
C4744929|An increase in size, volume, or quantity in comparison to a previous state that was enlarged from nadir.|NCI|N|
C4744934|A malignant schwannoma of the heart arising from subendocardial schwann cells that appear as an expansile spindle cell mass, which may infiltrate the myocardium and protrude into the ventricular lumen. (INHAND)|NCI|N|
C4744935|A malignant schwannoma of the heart of the heart arising from intramural swan cells that appears as a poorly circumscribed spindle cell mass within the ventricular myocardium with a more discrete boundary, that is generally more infiltrative than expansile. (INHAND)|NCI|N|
C4744936|An experimental organism carcinoma that arises from a ductal structure.|NCI|N|
C4744937|An experimental organism adenoma that arises from a ductal structure.|NCI|N|
C4744938|A malignant epithelial neoplasm arising from the cells of the Brunner''s gland with desmoplasia being the most dominant feature along with a diminished or lost glandular structure. (INHAND)|NCI|N|
C4744939|A benign sex cord/stromal neoplasm characterized by densely packed fusiform theca cells arranged in interlacing bundles and whorls giving a nodular appearance. (INHAND)|NCI|N|
C4744948|An exposure measured in direct proximity to an individual.|NCI|N|
C4744952|An adverse event that is reasonably expected and/or listed in the clinical protocol or other study-related document.|NCI|N|
C4744958|Unauthorized access to, or disclosure of, an individual''s personal information.|NCI|N|
C4744967|An indication as to whether the fetus or infant is small for the gestational age.|NCI|N|
C4744968|A non-neoplastic disorder that affects the genitourinary system.|NCI|N|
C4744971|A semi-quantitative microscopic finding indicating that more than 15 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.|NCI|N|
C4744972|Pneumonitis that does not respond to corticosteroid therapy.|NCI|N|
C4744983|A gastric neuroendocrine carcinoma that has spread from its original site of growth to another anatomic site.|NCI|N|
C4744984|A gastric neuroendocrine carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C4744985|A gastric large cell neuroendocrine carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C4744986|A gastric small cell neuroendocrine carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C4744987|A small intestinal neuroendocrine carcinoma that has spread from its original site of growth to another anatomic site.|NCI|N|
C4744988|A small intestinal neuroendocrine carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C4744989|A small intestinal small cell neuroendocrine carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C4744990|A small intestinal large cell neuroendocrine carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C4744991|A semi-quantitative microscopic finding indicating that 25 percent or less of the nucleated cells in a bone marrow sample are immature mononuclear cells.|NCI|N|
C4744996|The reemergence of T-cell/histiocyte-rich large B-cell lymphoma after a period of remission.|NCI|N|
C4744999|Histologic transformation of a marginal zone lymphoma to an aggressive diffuse large B-cell lymphoma.|NCI|N|
C4745008|A primary or metastatic malignant neoplasm that affects the peritoneum and/or retroperitoneum.|NCI|N|
C4745010|A neoplasm that arises from the peritoneum and/or retroperitoneum and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C4745011|A primary or metastatic malignant neoplasm that affects the organs and structures of the abdomen.|NCI|N|
C4745013|The reemergence of acute myeloid leukemia not otherwise specified after a period of remission.|NCI|N|
C4745015|The reemergence of acute myeloid leukemia with recurrent genetic abnormalities after a period of remission.|NCI|N|
C4745016|The reemergence of acute myeloid leukemia with t (9;11) (p21.3; q23.3); MLLT3-MLL after a period of remission.|NCI|N|
C4745017|The reemergence of acute myeloid leukemia with multilineage dysplasia after a period of remission.|NCI|N|
C4745019|The reemergence of acute erythroid leukemia after a period of remission.|NCI|N|
C4745036|A microsatellite stable colorectal carcinoma that has spread from its original site of growth to nearby tissues or lymph nodes.|NCI|N|
C4745037|Digestive system carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C4745040|Any factor, such as age, ethnicity, genetic factor, family history, or environmental factor, that increases a person''s chance of developing melanoma.|NCI|N|
C4745041|A change in the nucleotide sequence of the PPP2R2A gene.|NCI|N|
C4745042|A change in the nucleotide sequence of the TNFAIP3 gene.|NCI|N|
C4745044|A semi-quantitative microscopic finding indicating that between 10 and 59 percent of the nucleated cells in a bone marrow sample are neoplastic plasma cells.|NCI|N|
C4745050|A change in the nucleotide sequence of the PPM1D gene.|NCI|N|
C4745051|A change in the nucleotide sequence of the PPM1D gene that results in constitutive activation of protein phosphatase 1D and its downstream signaling pathways.|NCI|N|
C4745052|A molecular genetic abnormality indicating the presence of multiple copies of the PPM1D gene.|NCI|N|
C4745053|An immunohistochemical result indicating that HER2/Neu (ERBB2) is expressed at low levels in a sample.|NCI|N|
C4745056|A basal cell carcinoma that has spread from its original site of growth to nearby tissues or lymph nodes.|NCI|N|
C4745057|Increasing prostate-specific antigen (PSA) following prostatectomy or radiation therapy in a patient with a history of localized prostate carcinoma. Signs of metastasis are absent using the currently available scanning technology.|NCI|N|
C4745063|A carcinoma arising from the intrahepatic bile ducts, hepatic ducts, common bile duct, cystic duct, or gallbladder.|NCI|N|
C4745064|The reemergence of a carcinoma arising from any part of the biliary tract after a period of remission.|NCI|N|
C4745065|An indication that an individual''s growth plates are open and that bone growth is likely to continue.|NCI|N|
C4745066|A basal cell carcinoma that has spread from its original site of growth to another anatomic site and is not amenable to surgical resection.|NCI|N|
C4745067|A basal cell carcinoma that has spread from its original site of growth to nearby tissues or lymph nodes and is not amenable to surgical resection.|NCI|N|
C4745068|Graft versus host disease (GVHD) that occurs in an infant as the result of engraftment of maternal lymphocytes, resulting from in utero maternal-fetal cellular trafficking.|NCI|N|
C4745071|A malignant neoplasm that is associated with human papillomavirus infection and has spread from its original site of growth to another anatomic site.|NCI|N|
C4745073|An indication that an individual has previously received radiation treatment of their currently affected breast.|NCI|N|
C4745074|An indication that an individual has previously received systemic chemotherapy for their current malignancy.|NCI|N|
C4745075|An indication that an individual has previously received systemic therapy for their current malignancy.|NCI|N|
C4745076|An indication that an individual has previously received therapy for their current malignancy.|NCI|N|
C4745077|An infection with human immunodeficiency virus that responds to therapy.|NCI|N|
C4745081|A finding indicating the development of a tumor in a patient with a history of a previously diagnosed tumor with a different histopathologic profile in another anatomic site as compared to the most recent one.|NCI|N|
C4745084|Any kind of illness or circumstance which requires medical monitoring.|NCI|N|
C4745086|The source providing the medical history.|NCI|N|
C4745091|Alcohol consumption equal to or less than two drinks per day for men and one drink or less per day for women.|NCI|N|
C4745092|Alcohol consumption more than two drinks per day for men and more than one drink per day for women.|NCI|N|
C4745093|An indication that an individual has consumed alcohol in the past, but is currently a non-drinker.|NCI|N|
C4745094|An indication that the alcohol use history of an individual is unavailable.|NCI|N|
C4745095|The number of years an individual has consumed more than 2 drinks per day for men and more than 1 drink per day for women.|NCI|N|
C4745096|An individual who has smoked less than 100 cigarettes in their lifetime.|NCI|N|
C4745097|An indication that an individual is a current smoker that may or may not smoke daily.|NCI|N|
C4745098|An individual who stopped smoking more than 15 years prior.|NCI|N|
C4745099|An individual who stopped smoking within the past 15 years.|NCI|N|
C4745100|An indication that the smoking history of an individual is unavailable.|NCI|N|
C4745101|The chronological age at which an individual stopped smoking.|NCI|N|
C4745102|How many cigarettes did an individual smoke when they smoked.|NCI|N|
C4745103|A measurement of the amount of smoking exposure an individual has had over time, which is calculated by multiplying the number of cigarettes smoked per day by the number of years smoked, and dividing the product by the number of cigarettes in a pack.|NCI|N|
C4745104|The individual was exposed to secondhand smoke.|NCI|N|
C4745105|There has been no or minimal exposure to second hand smoke.|NCI|N|
C4745106|Secondhand smoke exposure was present in the household during childhood.|NCI|N|
C4745107|Secondhand smoke exposure is present in the current household.|NCI|N|
C4745108|The history of secondhand smoke exposure is not available.|NCI|N|
C4745115|The individual''s outcome after the follow-up.|NCI|N|
C4745116|There is no evidence of a tumor in the individual.|NCI|N|
C4745117|There is evidence of a tumor in an individual.|NCI|N|
C4745118|There is evidence of a new tumor after the initial treatment.|NCI|N|
C4745136|Environmental, occupational, or consumer-based exposure to vaporized materials during the soldering process.|NCI|N|
C4745137|Environmental, occupational, or consumer-based exposure to airborne cotton or jute fibers created during the manufacture, processing, or handling of these materials.|NCI|N|
C4745145|A change in the amino acid residue at position 12 in the GTPase HRas protein where glycine has been replaced by another amino acid.|NCI|N|
C4745146|A nucleotide substitution at position 35 of the coding sequence of the HRAS gene where guanine has been mutated to adenine.|NCI|N|
C4745147|A complex substitution where the nucleotide sequence at positions 35 and 36 of the coding sequence of the HRAS gene has changed from guanine-cytosine to adenine-thymine.|NCI|N|
C4745148|A change in the amino acid residue at position 12 in the GTPase HRas protein where glycine has been replaced by aspartic acid.|NCI|N|
C4745155|A change in the nucleotide sequence of the HBB gene.|NCI|N|
C4745156|A nucleotide substitution at position 364 of the coding sequence of the HBB gene where guanine has been mutated to adenine.|NCI|N|
C4745157|A nucleotide substitution at position 20 of the coding sequence of the HBB gene where adenine has been mutated to thymine.|NCI|N|
C4745158|A variation in the amino acid sequence for the hemoglobin subunit beta protein.|NCI|N|
C4745159|Pancreatic acinar cell carcinoma that is amenable to surgical resection.|NCI|N|
C4745160|Intrahepatic cholangiocarcinoma that is amenable to surgical resection.|NCI|N|
C4745161|Digestive system carcinoma that is amenable to surgical resection.|NCI|N|
C4745162|Extrahepatic bile duct adenocarcinoma that is amenable to surgical resection.|NCI|N|
C4745163|The tumor status at date of last contact or death.|NCI|N|
C4745173|A change in the nucleotide sequence of the KCNJ5 gene.|NCI|N|
C4745174|A change in the nucleotide sequence of the ATP1A1 gene.|NCI|N|
C4745175|A change in the nucleotide sequence of the ATP2B3 gene.|NCI|N|
C4745176|A change in the nucleotide sequence of the CACNA1D gene.|NCI|N|
C4745177|A change in the nucleotide sequence of the PRKACA gene.|NCI|N|
C4745179|A rare schwannoma that arises from the adrenal medulla.|NCI|N|
C4745180|A rare lymphoma that arises from the adrenal gland.|NCI|N|
C4745189|A rare sarcoma that arises from the adrenal gland.|NCI|N|
C4745223|A response indicating that an individual made no spacing errors.|NCI|N|
C4745225|A response indicating that an individual made errors not listed or elsewhere specified.|NCI|N|
C4745226|A response indicating that an individual had no hospital admissions.|NCI|N|
C4745227|A response indicating that an individual had 1 or 2 hospital admissions.|NCI|N|
C4745228|A response indicating that an individual had 2 or more hospital admissions.|NCI|N|
C4745229|A response indicating that an individual was in excellent, very good, or good health.|NCI|N|
C4745230|A response indicating that an individual was in fair health.|NCI|N|
C4745231|A response indicating that an individual has or had 0 or 1 activities that required help.|NCI|N|
C4745232|A response indicating that an individual has or had 2-4 activities that required help.|NCI|N|
C4745233|A response indicating that an individual has or had 5-8 activities that required help.|NCI|N|
C4745234|A response indicating that an individual can perform a walking exercise in 0-10 seconds.|NCI|N|
C4745235|A response indicating that an individual can perform a walking exercise in 11-20 seconds.|NCI|N|
C4745236|A response indicating that an individual can perform a walking exercise in greater than 20 seconds, or patient was unwilling, or required assistance to perform a walking exercise.|NCI|N|
C4745240|Breast adenocarcinoma that is positive for hormone receptors.|NCI|N|
C4745241|Hormone receptor-positive breast adenocarcinoma that does not respond to treatment.|NCI|N|
C4745243|A change in the nucleotide sequence of the APC gene that originates in the gametes.|NCI|N|
C4745244|An impression that a tumor has possibly spread from its original site of growth to another anatomic site.|NCI|N|
C4745248|A carcinoma that arises from the kidney and has metastasized to another anatomic site.|NCI|N|
C4745249|A rare renal cell carcinoma affecting young patients. It is characterized by the presence of the chromosomal translocation t(6;11) which fuses the TFEB transcription factor gene, located on chromosome 6, with the MALAT1 gene, located on chromosome 11.|NCI|N|
C4745251|A teratoma that arises from the ovary. It contains mature tissue elements and a limited amount of immature tissue elements.|NCI|N|
C4745252|An adenocarcinoma that arises from the endometrium and is characterized by the presence of both type I and type II endometrial adenocarcinoma components. The minor component constitutes at least 5% of the entire tumor.|NCI|N|
C4745255|An extragonadal immature teratoma that arises from the mediastinum.|NCI|N|
C4745261|A nonencapsulated, infiltrating papillary carcinoma of the thyroid gland characterized by the predominance of follicular structures. The malignant follicular cells display the nuclear features that characterize the papillary adenocarcinomas of the thyroid gland.|NCI|N|
C4745272|A pancreatic ductal adenocarcinoma that has spread from its original site of growth to nearby tissues or lymph nodes.|NCI|N|
C4745280|A melanoma which has metastasized from an unknown primary anatomic site.|NCI|N|
C4745288|An indication as to whether an anatomical location contains metastases.|NCI|N|
C4745290|A focus of squamous epithelium in or near the surface of the heart, generally believed to be an embryonic rest.|NCI|N|
C4745291|An adverse event in a newborn characterized by mild, self-limiting, irritability, not affecting feeding and sleeping.|NCI|N|
C4745292|A tachyarrhythmia adverse event in a newborn resulting in non-life threatening hemodynamic compromise or changes in age-appropriate behavior; requiring major care changes (e.g. new medication or intervention).|NCI|N|
C4745293|An adverse event in a newborn characterized by apnea responsive to stimulation or intermittent fraction of inspired oxygen (FiO2) increase.|NCI|N|
C4745294|An adverse event in a newborn characterized by the need for supplemental oxygen at 28 days AND need for 22-30% oxygen at 36 weeks postmenstrual age (PMA) in infants born less than 32 weeks'' gestation; need for 22-30% oxygen by 56 days postnatal age in infants born greater than 32 weeks'' gestation; need for 22-30% oxygen at discharge. Note: For conversion of oxygen administered by different modalities to fraction of inspired oxygen (FiO2): see http://nicutools.org/MediCalcs/ActualO2.php3.|NCI|N|
C4745295|An adverse event in a newborn characterized by a positive blood culture positive; no care change indicated (e.g. contamination suspected).|NCI|N|
C4745303|A change in the amino acid residue at position 648 in the mast/stem cell growth factor receptor Kit protein where glycine has been replaced by aspartic acid.|NCI|N|
C4745304|A change in the amino acid residue at position 820 in the mast/stem cell growth factor receptor Kit protein where aspartic acid has been replaced by tyrosine.|NCI|N|
C4745305|A nucleotide substitution at position 2554 of the coding sequence of the KIT gene where guanine has been mutated to adenine.|NCI|N|
C4745308|The reemergence of endometrial undifferentiated carcinoma after a period of remission.|NCI|N|
C4745311|A score on the Modified Ryan Scheme for Tumor Regression that indicates a complete response, defined as having no viable cancer cells.|NCI|N|
C4745312|A change in the nucleotide sequence of the FANCL gene.|NCI|N|
C4745322|An assessment of the anatomic response (based on changes in size of anatomic structures) of the disease to the therapy.|NCI|N|
C4745324|A deviation from clinical trial protocol that is likely to affect, to a significant degree, the safety, physical, or mental integrity of the subjects of the trial, or the scientific value of the trial.|NCI|N|
C4745336|An individual who stopped smoking an unknown number of years prior.|NCI|N|
C4745364|A carcinoma that arises from the oropharynx and has metastasized to another anatomic site.|NCI|N|
C4745367|A rare malignant peripheral nerve sheath tumor that arises from the thyroid gland.|NCI|N|
C4745369|An extremely rare morphologic variant of anaplastic carcinoma of the thyroid gland, characterized by the presence of large numbers of non-neoplastic, osteoclast-like giant cells.|NCI|N|
C4745370|An extremely rare sex cord-stromal tumor that arises from the adrenal cortex. The reported cases were solitary and unilateral.|NCI|N|
C4746547|In Alport syndrome (AS) a spectrum of phenotypes ranging from progressive renal disease with extrarenal abnormalities to isolated hematuria with a non-progressive or very slowly progressive course is observed. Approximately two thirds of AS is X-linked (XLAS); approximately 15% is autosomal recessive (ARAS), and approximately 20% is autosomal dominant (ADAS). In the absence of treatment, renal disease progresses from microscopic hematuria (microhematuria) to proteinuria, progressive renal insufficiency, and end-stage renal disease (ESRD) in all males with XLAS, and in all males and females with ARAS. Progressive sensorineural hearing loss (SNHL) is usually present by late childhood or early adolescence. Ocular findings include anterior lenticonus (which is virtually pathognomonic), maculopathy (whitish or yellowish flecks or granulations in the perimacular region), corneal endothelial vesicles (posterior polymorphous dystrophy), and recurrent corneal erosion. In individuals with ADAS, ESRD is frequently delayed until later adulthood, SNHL is relatively late in onset, and ocular involvement is rare.|GeneReviews|N|
C4746631|Primary lymphedema is caused by anatomic or functional defects in the lymphatic system, resulting in chronic swelling of body parts. There may be accompanying nail and skin changes, such as nail dysplasia or papillomatosis. Onset is usually at birth or in early childhood but can occur later, and the severity is variable (summary by Gordon et al., 2013 and Balboa-Beltran et al., 2014).
For a discussion of the genetic heterogeneity of lymphocytic malformation, see 153100.|OMIM|N|
C4746745|In Alport syndrome (AS) a spectrum of phenotypes ranging from progressive renal disease with extrarenal abnormalities to isolated hematuria with a non-progressive or very slowly progressive course is observed. Approximately two thirds of AS is X-linked (XLAS); approximately 15% is autosomal recessive (ARAS), and approximately 20% is autosomal dominant (ADAS). In the absence of treatment, renal disease progresses from microscopic hematuria (microhematuria) to proteinuria, progressive renal insufficiency, and end-stage renal disease (ESRD) in all males with XLAS, and in all males and females with ARAS. Progressive sensorineural hearing loss (SNHL) is usually present by late childhood or early adolescence. Ocular findings include anterior lenticonus (which is virtually pathognomonic), maculopathy (whitish or yellowish flecks or granulations in the perimacular region), corneal endothelial vesicles (posterior polymorphous dystrophy), and recurrent corneal erosion. In individuals with ADAS, ESRD is frequently delayed until later adulthood, SNHL is relatively late in onset, and ocular involvement is rare.|GeneReviews|N|
C4746777|Dopamine beta-hydroxylase (DBH) deficiency is characterized by lack of sympathetic noradrenergic function but normal parasympathetic and sympathetic cholinergic function. Affected individuals exhibit profound deficits in autonomic regulation of cardiovascular function that predispose to orthostatic hypotension. Although DBH deficiency appears to be present from birth, the diagnosis is not generally recognized until late childhood. The combination of ptosis of the eyelids in infants and children, together with hypotension, is suggestive of the disease. In the perinatal period, DBH deficiency has been complicated by vomiting, dehydration, hypotension, hypothermia, and hypoglycemia requiring repeated hospitalization; children have reduced exercise capacity. By early adulthood, individuals have profound orthostatic hypotension, greatly reduced exercise tolerance, ptosis of the eyelids, and nasal stuffiness. Presyncopal symptoms include dizziness, blurred vision, dyspnea, nuchal discomfort, and chest pain; symptoms may worsen in hot environments or after heavy meals or alcohol ingestion. Life expectancy is unknown, but some affected individuals have lived beyond age 60 years.|GeneReviews|N|
C4746814|A primary immunodeficiency disease characterized by impaired function or reduced numbers of dendritic cells.|MONDO|N|
C4746851|Proteasome-associated autoinflammatory syndrome-1 (PRAAS1) is an autosomal recessive disorder characterized by early childhood onset of annular erythematous plaques on the face and extremities with subsequent development of partial lipodystrophy and laboratory evidence of immune dysregulation. More variable features include recurrent fever, severe joint contractures, muscle weakness and atrophy, hepatosplenomegaly, basal ganglia calcifications, and microcytic anemia (summary by Agarwal et al., 2010; Kitamura et al., 2011; Arima et al., 2011).
This disorder encompasses Nakajo-Nishimura syndrome (NKJO); joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy (JMP syndrome); and chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome (CANDLE). Among Japanese patients, this disorder is best described as Nakajo-Nishimura syndrome, since both Nakajo (1939) and Nishimura et al. (1950) contributed to the original phenotypic descriptions.
Genetic Heterogeneity of Proteasome-Associated Autoinflammatory Syndrome
See also PRAAS2 (618048), caused by mutation in the POMP gene (613386) on chromosome 13q12; PRAAS3 (617591), caused by mutation in the PSMB4 gene (602177) on chromosome 1q21; PRAAS4 (619183), caused by mutation in the PSMG2 gene (609702) on chromosome 18p11; PRAAS5 (619175), caused by mutation in the PSMB10 gene (176847) on chromosome 16q22; and PRAAS6 (620796), caused by mutation in the PSMB9 gene (177045) on chromosome 6p21.|OMIM|N|
C4746956|Osteogenesis imperfecta type XIX (OI19) is characterized by prenatal fractures and generalized osteopenia, with severe short stature in adulthood, as well as variable scoliosis and pectal deformity, and marked anterior angulation of the tibia (Lindert et al., 2016).|OMIM|N|
C4746975|DFNX7 is a congenital form of bilateral mixed or conductive hearing loss, which may be progressive. It is not associated with vestibular symptoms (Xing et al., 2017).|OMIM|N|
C4746986|In Alport syndrome (AS) a spectrum of phenotypes ranging from progressive renal disease with extrarenal abnormalities to isolated hematuria with a non-progressive or very slowly progressive course is observed. Approximately two thirds of AS is X-linked (XLAS); approximately 15% is autosomal recessive (ARAS), and approximately 20% is autosomal dominant (ADAS). In the absence of treatment, renal disease progresses from microscopic hematuria (microhematuria) to proteinuria, progressive renal insufficiency, and end-stage renal disease (ESRD) in all males with XLAS, and in all males and females with ARAS. Progressive sensorineural hearing loss (SNHL) is usually present by late childhood or early adolescence. Ocular findings include anterior lenticonus (which is virtually pathognomonic), maculopathy (whitish or yellowish flecks or granulations in the perimacular region), corneal endothelial vesicles (posterior polymorphous dystrophy), and recurrent corneal erosion. In individuals with ADAS, ESRD is frequently delayed until later adulthood, SNHL is relatively late in onset, and ocular involvement is rare.|GeneReviews|N|
C4746992|Any mitochondrial complex 1 deficiency, mitochondrial type 1, in which the cause of the disease is a mutation in the MTND3 gene.|MONDO|N|
C4747394|Capillary malformation-arteriovenous malformation (CM-AVM) syndrome is characterized by the presence of multiple small (1-2 cm in diameter) capillary malformations mostly localized on the face and limbs. Some affected individuals also have associated arteriovenous malformations (AVMs) and/or arteriovenous fistulas (AFVs), fast-flow vascular anomalies that typically arise in the skin, muscle, bone, spine, and brain; life-threatening complications of these lesions can include bleeding, congestive heart failure, and/or neurologic consequences. Symptoms from intracranial AVMs/AVFs appear to occur early in life. Several individuals have Parkes Weber syndrome (multiple micro-AVFs associated with a cutaneous capillary stain and excessive soft-tissue and skeletal growth of an affected limb).|GeneReviews|N|
C4747517|MC1DN20 is an autosomal recessive multisystem disorder characterized by infantile onset of acute metabolic acidosis, hypertrophic cardiomyopathy, and muscle weakness associated with a deficiency of mitochondrial complex I activity in muscle, liver, and fibroblasts (summary by Haack et al., 2010).
For a discussion of genetic heterogeneity of mitochondrial complex I deficiency, see 252010.|OMIM|N|
C4747568|Hereditary primary lymphedema is caused by anatomic or functional defects in the lymphatic system, resulting in chronic swelling of body parts. There may be accompanying nail and skin changes, such as nail dysplasia or papillomatosis. Onset is usually at birth or in early childhood but can occur later, and the severity is variable (summary by Gordon et al., 2013 and Balboa-Beltran et al., 2014).
For a discussion of genetic heterogeneity of lymphatic malformation, see 153100.|OMIM|N|
C4747646|Hereditary primary lymphedema is caused by anatomic or functional defects in the lymphatic system, resulting in chronic swelling of body parts. There may be accompanying nail and skin changes, such as nail dysplasia or papillomatosis. Onset is usually at birth or in early childhood but can occur later, and the severity is variable (summary by Gordon et al., 2013 and Balboa-Beltran et al., 2014).
For a discussion of genetic heterogeneity of lymphatic malformation, see 153100.|OMIM|N|
C4747715|SMALED2A is an autosomal dominant form of spinal muscular atrophy characterized by early childhood onset of muscle weakness and atrophy predominantly affecting the proximal and distal muscles of the lower extremity, although some patients may show upper extremity involvement. The disorder results in delayed walking, waddling gait, difficulty walking, and loss of distal reflexes. Some patients may have foot deformities or hyperlordosis, and some show mild upper motor signs, such as spasticity. Sensation, bulbar function, and cognitive function are preserved. The disorder shows very slow progression throughout life (summary by Oates et al., 2013).
For discussion of genetic heterogeneity of lower extremity-predominant spinal muscular atrophy, see SMALED1 (158600).|OMIM|N|
C4747737|Retinitis pigmentosa-82 with or without situs inversus (RP82) is an autosomal recessive form of retinal degeneration characterized by initial loss of rod photoreceptors, resulting in impaired night vision followed by progressive visual-field constriction as both rod and cone photoreceptors die. Some affected individuals have situs inversus (Davidson et al., 2013; Audo et al., 2017).|OMIM|N|
C4747743|Immunodeficiency-15B (IMD15B) is an autosomal recessive primary immunodeficiency disorder characterized by onset in infancy of life-threatening bacterial, fungal, and viral infections and failure to thrive. Laboratory studies show hypo- or agammaglobulinemia with relatively normal numbers of B and T cells. However, functional studies show impaired differentiation and activation of immune cells (summary by Pannicke et al., 2013).|OMIM|N|
C4747769|Any hereditary lymphedema in which the cause of the disease is a mutation in the VEGFC gene.|MONDO|N|
C4747850|Proteasome-associated autoinflammatory syndrome-3 is an autosomal recessive syndrome with onset in early infancy. Affected individuals present with nodular dermatitis, recurrent fever, myositis, panniculitis-induced lipodystrophy, lymphadenopathy, and dysregulation of the immune response, particularly associated with abnormal type I interferon-induced gene expression patterns. Additional features are highly variable, but may include joint contractures, hepatosplenomegaly, anemia, thrombocytopenia, recurrent infections, autoantibodies, and hypergammaglobulinemia. Some patients may have intracranial calcifications (summary by Brehm et al., 2015).
For a discussion of genetic heterogeneity of PRAAS, see PRAAS1 (256040).|OMIM|N|
C4747891|Glycosylphosphatidylinositol biosynthesis defect-17 (GPIBD17) is an autosomal recessive disorder characterized by variable neurologic deficits that become apparent in infancy or early childhood. Patients may present with early-onset febrile or afebrile seizures that tend to be mild or controllable. Other features may include learning disabilities, autism, behavioral abnormalities, hypotonia, and motor deficits. The phenotype is relatively mild compared to that of other GPIBDs (summary by Nguyen et al., 2018).
For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (610293).|OMIM|N|
C4747922|Rhizomelic skeletal dysplasia with or without Pelger-Huet anomaly (SKPHA) is an autosomal recessive disorder characterized by rhizomelic skeletal dysplasia of variable severity with or without abnormal nuclear shape and chromatin organization in blood granulocytes (Hoffmann et al., 2002; Borovik et al., 2013; Collins et al., 2020). Initial skeletal features may improve with age (Sobreira et al., 2014).|OMIM|N|
C4747923|Tetraamelia syndrome-2 (TETAMS2) is characterized by rudimentary appendages or complete absence of the limbs, usually symmetric, as well as bilateral agenesis of the lungs. There are abnormalities of the pulmonary vasculature and dysmorphic features, including bilateral cleft lip/palate, ankyloglossia, mandibular hypoplasia, microretrognathia, and labioscrotal fold aplasia (Szenker-Ravi et al., 2018).
For a discussion of genetic heterogeneity of TETAMS, see 273395.|OMIM|N|
C4747940|Humerofemoral hypoplasia with radiotibial ray deficiency (HHRRD) is a severe dysostosis characterized by reduction of all 4 limbs as well as hypoplasia of the upper limb girdle and pelvis. Rudimentary finger- or toe-like appendages may be present (Szenker-Ravi et al., 2018).|OMIM|N|
C4747954|Coffin-Siris syndrome (CSS) is classically characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth and additional digits, developmental or cognitive delay of varying degree, distinctive facial features, hypotonia, hirsutism/hypertrichosis, and sparse scalp hair. Congenital anomalies can include malformations of the cardiac, gastrointestinal, genitourinary, and/or central nervous systems. Other findings commonly include feeding difficulties, slow growth, ophthalmologic abnormalities, and hearing impairment.|GeneReviews|N|
C4747961|PPCD4 is characterized by an irregular posterior corneal surface with occasional opacities of variable size and shape. There is inter- and intrafamilial as well as intraindividual variability. Symptoms can include blurred vision due to corneal edema, reduced visual acuity, secondary glaucoma, and corectopia; some affected individuals are asymptomatic. Rare patients have undergone enucleation for painful eye (Liskova et al., 2018).
For a discussion of genetic heterogeneity of PPCD, see 122000.|OMIM|N|
C4747974|Charcot-Marie-Tooth disease type 2DD is an autosomal dominant peripheral sensorimotor neuropathy mainly affecting the lower limbs. Affected individuals have gait impairment due to distal muscle weakness and atrophy. Some patients may also have involvement of the distal upper limbs, resulting in atrophy of the intrinsic hand muscles. The age at onset and severity of the disorder is highly variable, even within families, and those with earlier onset in late childhood or the teenage years tend to have a more severe disease course. Patients remain ambulatory even late in the disease, although some may require orthotic devices (summary by Lassuthova et al., 2018).
For a phenotypic description and a discussion of genetic heterogeneity of axonal CMT type 2, see CMT2A (118210).|OMIM|N|
C4747984|Immunodeficiency-100 with pulmonary alveolar proteinosis and hypogammaglobulinemia (IMD100) is primarily a lung disorder characterized by onset of respiratory insufficiency due to pulmonary alveolar proteinosis (PAP) in the first months of life. Affected individuals may have normal respiratory function at birth. Development of the disorder appears to be influenced or triggered by viral infection, manifest as progressive respiratory insufficiency, confluent consolidations on lung imaging, and diffuse collection of periodic acid-Schiff (PAS)-positive material in pulmonary alveoli associated with small and nonfoamy alveolar macrophages. Patients also have hypogammaglobulinemia, leukocytosis, and splenomegaly. Many patients die of respiratory failure in infancy or early childhood; hematopoietic stem cell transplantation (HSCT) is curative. The pathogenesis may be related to abnormal function of alveolar macrophages, resulting in decreased catabolism of surfactant (summary by Cho et al., 2018). Magg et al. (2021) determined that the disorder results from a gain-of-function effect that particularly affects B cells and monocytes.|OMIM|N|
C4747989|Proteasome-associated autoinflammatory syndrome-2 (PRAAS2) is an autosomal dominant disorder with onset in early infancy. Affected individuals develop severe inflammatory neutrophilic dermatitis, autoimmunity, and variable immunodeficiency (summary by Poli et al., 2018).
For a discussion of genetic heterogeneity of PRAAS, see PRAAS1 (256040).|OMIM|N|
C4747991|Infantile-onset parkinsonism-dystonia-2 (PKDYS2) is an autosomal recessive complex infantile-onset neurologic disorder characterized by abnormal movements, including parkinsonism, dystonia, and poor fine motor skills, as well as autonomic dysfunction, including abnormal sweating, cold extremities, and poor sleep. Some patients have variable degrees of developmental delay. Features of the disorder are consistent with decreased levels of monoamine neurotransmitters, although levels of these in the spinal fluid are normal (summary by Rilstone et al., 2013).
For a discussion of genetic heterogeneity of PKDYS, see 613135.|OMIM|N|
C4748003|MRD57 is an autosomal dominant neurodevelopmental disorder with a highly variable phenotype. Most affected individuals have delayed psychomotor development apparent in infancy or early childhood, language delay, and behavioral abnormalities. Additional features may include hypotonia, feeding problems, gastrointestinal issues, and dysmorphic facial features (summary by Reijnders et al., 2018).|OMIM|N|
C4748014|CMH27 is a severe, early-onset cardiomyopathy with morphologic features of both dilated and hypertrophic disease, characterized by biventricular involvement and atypical distribution of hypertrophy. Heterozygotes are at increased risk of developing cardiomyopathy (Almomani et al., 2016).
For a general phenotypic description and a discussion of genetic heterogeneity of hypertrophic cardiomyopathy, see CMH1 (192600).
An oligogenic form of hypertrophic cardiomyopathy, involving heterozygous mutations in the ALPK3, TTN (188840), and MYL3 (160790) genes has also been reported in 1 family.|OMIM|N|
C4748032|Neurodevelopmental disorder with cerebellar atrophy and with or without seizures (NEDCAS) is an autosomal recessive disorder characterized by intellectual disability associated with ataxia (summary by Engel et al., 2023).|OMIM|N|
C4748035|Carboxylesterase-1 (114835) is a widely expressed serine esterase that is involved in the hydrolysis of multiple amide-containing and ester-containing endogenous and xenobiotic compounds including therapeutic agents such as methylphenidate, oseltamivir, angiotensin-converting enzyme inhibitors (e.g., trandolapril and temocapril), and anticancer drugs (e.g., capecitabin). In addition, CES1 is the primary enzyme responsible for metabolizing clopidogrel and its derivatives (summary by Lewis et al., 2013).|OMIM|N|
C4748044|Autosomal dominant polycystic kidney disease (ADPKD) is generally a late-onset multisystem disorder characterized by bilateral kidney cysts, liver cysts, and an increased risk of intracranial aneurysms. Other manifestations include: cysts in the pancreas, seminal vesicles, and arachnoid membrane; dilatation of the aortic root and dissection of the thoracic aorta; mitral valve prolapse; and abdominal wall hernias. Kidney manifestations include early-onset hypertension, kidney pain, and kidney insufficiency. Approximately 50% of individuals with ADPKD have end-stage kidney disease (ESKD) by age 60 years. The prevalence of liver cysts increases with age and occasionally results in clinically significant severe polycystic liver disease (PLD), most often in females. Overall, the prevalence of intracranial aneurysms is fivefold higher than in the general population and further increased in those with a positive family history of aneurysms or subarachnoid hemorrhage. There is substantial variability in the severity of kidney disease and other extra-kidney manifestations.|GeneReviews|N|
C4748052|Primary ciliary dyskinesia-38 is an autosomal recessive disorder characterized by chronic airway disease and recurrent sinopulmonary infections beginning in infancy and caused by defective ciliary function. Affected individuals often have neonatal respiratory distress and may later have infertility. About half of patients have laterality defects due to ciliary dysfunction in early embryonic development (summary by Fassad et al., 2018 and Hoben et al., 2018).
For a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400).|OMIM|N|
C4748058|Pontocerebellar hypoplasia type 1D (PCH1D) is a severe autosomal recessive neurologic disorder characterized by severe hypotonia and a motor neuronopathy apparent at birth or in infancy. Patients have respiratory insufficiency, feeding difficulties, and severely delayed or minimal gross motor development. Other features may include eye movement abnormalities, poor overall growth, contractures. Brain imaging shows progressive cerebellar atrophy with relative sparing of the brainstem (summary by Burns et al., 2018).
For a general phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1A (607596).|OMIM|N|
C4748070|Developmental and epileptic encephalopathy-66 (DEE66) is a neurologic disorder characterized by the onset of various types of seizures in the first days or weeks of life. Most seizures have focal origins; secondary generalization is common. Seizure control is difficult at first, but may become easier with time. Affected individuals show global developmental delay with hypotonia, behavioral abnormalities, and dysmorphic features or ophthalmologic defects. Brain imaging often shows cerebellar dysgenesis. A subset of patients have extraneurologic manifestations, including hematologic and distal limb abnormalities (summary by Olson et al., 2018).
For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350.|OMIM|N|
C4748081|Neurodevelopmental disorder with spasticity and poor growth (NEDSG) is an autosomal recessive disorder characterized by severe early-onset encephalopathy with progressive microcephaly (Nahorski et al., 2018).|OMIM|N|
C4748083|Inflammatory bowel disease is a chronic inflammatory condition of the gastrointestinal tract (summary by Mohanan et al., 2018).
For a general description and a discussion of genetic heterogeneity of inflammatory bowel disease, including Crohn disease (CD) and ulcerative colitis (UC), see IBD1 (266600).|OMIM|N|
C4748084|Ovarian dysgenesis-6 is characterized by absence of spontaneous pubertal development in females with elevated gonadotropin levels, small uterus, and absence of ovarian tissue on imaging studies. Males appear to be unaffected (Weinberg-Shukron et al., 2015).
For a discussion of genetic heterogeneity of ovarian dysgenesis, see ODG1 (233300).|OMIM|N|
C4748092|LDLCQ8 is a quantitative trait affecting LDL cholesterol levels that is effected through the LIMA1 gene, which has a key role in intestinal cholesterol absorption. Individuals with LIMA1 mutations that impair protein function have reduced plasma LDL cholesterol levels and reduced cholesterol absorption (Zhang et al., 2018).|OMIM|N|
C4748093|Peeling skin syndrome-6 (PSS6) is characterized by generalized ichthyotic dry skin and bullous peeling lesions on the trunk and limbs at sites of minor trauma. There is residual hyperpigmentation in areas of healing, but no scarring. Skin symptoms are exacerbated by warmth and humidity; however, the disorder improves markedly with age (Bolling et al., 2018; Mohamad et al., 2018).
For a discussion of genetic heterogeneity of peeling skin syndrome, see PSS1 (270300).|OMIM|N|
C4748117|Spermatogenic failure-28 (SPGF28) is characterized by nonobstructive azoospermia, with a Sertoli cell-only phenotype observed in testicular tissue (Kasak et al., 2018).
For a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).|OMIM|N|
C4748142|Spermatogenic failure-29 (SPGF29) is characterized by nonobstructive azoospermia or oligozoospermia. Sperm that are present are immotile and exhibit abnormal morphology, primarily defects of the acrosome and head-neck junction (Kherraf et al., 2017).
For a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).|OMIM|N|
C4748152|Any BAFopathy in which the cause of the disease is a mutation in the BCL11B gene.|MONDO|N|
C4748158|SCA48 is an autosomal dominant neurodegenerative disorder characterized by onset of gait ataxia and/or cognitive-affective symptoms in midadulthood. Patients may present with involvement of either system, but most eventually develop impairment in both. Features include gait ataxia, dysarthria, and dysphagia, as well as cognitive decline, deficits in executive function, and psychiatric or affective manifestations, such as depression, anxiety, and apathy. Additional more variable features may include movement abnormalities, such as parkinsonism, tremor, chorea, dystonia, and dysmetria; spasticity is not observed. Brain imaging shows selective atrophy of the posterior areas of the cerebellar vermis, often with bilateral T2-weighted hyperintensities in the dentate nuclei (the 'crab sign'), and diffusion tensor imaging (DTI) may show paucity of cerebellar connections to the brainstem and cerebrum. The presentation is consistent with a clinical diagnosis of cerebellar cognitive-affective syndrome (CCAS). The phenotype shows both inter- and intrafamilial variability as well as some clinical overlap with SCAR16, suggesting that mutations in the STUB1 gene result in a spectrum of neurodegenerative manifestations (summary by Genis et al., 2018; Cocozza et al., 2020; Palvadeau et al., 2020; Ravel et al., 2021).
Magri et al. (2022) found evidence that heterozygous STUB1 variants alone do not cause disease but require a concurrent expanded repeat allele of the TBP gene (600075) for disease manifestation; see MOLECULAR GENETICS.|OMIM|N|
C4748170|Premature ovarian failure-15 (POF15) is characterized by onset of oligomenorrhea in the third decade of life, with small ovaries, reduced number of follicles, and elevated gonadotropic hormones (Fouquet et al., 2017).
For a general phenotypic description and discussion of genetic heterogeneity of premature ovarian failure, see POF1 (311360).|OMIM|N|
C4748176|MGRISCE2 is an autosomal recessive disorder characterized by intrauterine growth restriction, poor postnatal growth with short stature and microcephaly, and increased sister chromatid exchange on cell studies. The disorder results from defective DNA decatenation. The pathogenesis of the disorder is similar to that of Bloom syndrome (BLM; 210900), but patients with mutations in the TOP3A gene do not have a malar rash (summary by Martin et al., 2018).
For a discussion of genetic heterogeneity of MGRISCE, see Bloom syndrome (BLM; MGRISCE1; 210900)|OMIM|N|
C4748197|Autosomal dominant osteopetrosis-3 (OPTA3) is characterized by phenotypic variability. Some patients have typical features of osteopetrosis, including fractures after minor trauma, early tooth loss, anemia, hepatosplenomegaly, and a generalized increase in bone mineral density, whereas other patients exhibit localized osteosclerosis and generalized osteopenia. OPTA3 represents a relatively malignant form of osteopetrosis in some patients who develop significant pancytopenia and hepatosplenomegaly (Bo et al., 2016).
For a discussion of genetic heterogeneity of autosomal dominant osteopetrosis, see OPTA1 (607634).|OMIM|N|
C4748224|Spermatogenic failure-30 (SPGF30) is characterized by male infertility due to nonobstructive azoospermia or cryptozoospermia. The few sperm that have been observed are immotile and have small heads. Testicular histology in azoospermic patients shows incomplete maturation arrest, with a Sertoli cell-only pattern in some areas (Arafat et al., 2017).
For a discussion of genetic heterogeneity of spermatogenic failure, see 258150.|OMIM|N|
C4748234|SPGF31 is characterized by male infertility due to oligozoospermia with a high proportion (greater than 90%) of acephalic sperm. Affected couples may overcome infertility with intracytoplasmic sperm injection (Zhu et al., 2018).
For a discussion of phenotypic and genetic heterogeneity of spermatogenic failure, see 258150.|OMIM|N|
C4748251|Liddle syndrome is an autosomal dominant form of hypertension characterized by early onset of hypertension associated with hypokalemia, suppressed plasma renin activity, and suppressed secretion of the mineralocorticoid hormone aldosterone (summary by Hansson et al., 1995).
For a general phenotypic description and a discussion of genetic heterogeneity of Liddle syndrome, see 177200.|OMIM|N|
C4748253|Spermatogenic failure-32 (SPGF32) is characterized by male infertility due to nonobstructive azoospermia. Testicular biopsy has shown absence of spermatogenic cells and a Sertoli cell-only pattern (Choi et al., 2010).
For a discussion of phenotypic and genetic heterogeneity of spermatogenic failure, see 258150.|OMIM|N|
C4748257|BMFS4 is an autosomal recessive disorder characterized by early-onset anemia, leukopenia, and decreased B cells, resulting in the necessity for red cell transfusion and sometimes causing an increased susceptibility to infection. Some patients may have thrombocytopenia or variable additional nonhematologic features, such as facial dysmorphism, skeletal anomalies, and mild developmental delay. Bone marrow transplantation is curative (summary by Bahrami et al., 2017).
For a discussion of genetic heterogeneity of BMFS, see BMFS1 (614675).|OMIM|N|
C4748263|Ovarian dysgenesis-7 (ODG7) is characterized by primary amenorrhea, delayed puberty, elevated gonadotropic hormones, and small uterus and ovaries. Ovarian histology shows fibrotic ovaries without follicles (Chen et al., 2018).
For a discussion of genetic heterogeneity of ovarian dysgenesis, see ODG1 (233300).|OMIM|N|
C4748277|Postaxial polydactyly type A8 (PAPA8) is characterized by the presence of postaxial extra digits (hexadactyly) on the hands and/or the feet. The anomalous digits are well formed and have nails (Palencia-Campos et al., 2017).
For a discussion of genetic heterogeneity of postaxial polydactyly, see 174200.|OMIM|N|
C4748283|Autosomal recessive peripheral neuropathy with or without impaired intellectual development is an early childhood-onset neurologic disorder characterized by slowly progressive distal motor impairment resulting in gait difficulties, often with loss of ambulation, and difficulties using the hands in most patients. Most affected individuals also have impaired intellectual development, although some have normal cognition. Electrophysiologic testing and sural nerve biopsy are most compatible with an axonal motor neuropathy; some patients may show signs of demyelination. Additional features may include eye movement abnormalities, claw hands, foot deformities, and scoliosis (summary by Ylikallio et al., 2017).|OMIM|N|
C4748292|Liddle syndrome, or pseudoaldosteronism, is an autosomal dominant form of salt-sensitive hypertension characterized by suppressed plasma renin and aldosterone, hypokalemia, and metabolic alkalosis (summary by Salih et al., 2017).
For a discussion of genetic heterogeneity of Liddle syndrome, see 177200.|OMIM|N|
C4748295|Autosomal dominant limb-girdle muscular dystrophy-4 (LGMDD4) is characterized by onset of proximal muscle weakness in young adulthood. Affected individuals often have gait difficulties; some may have upper limb involvement. Other features include variably increased serum creatine kinase, myalgia, and back pain. The severity and expressivity of the disorder is highly variable, even within families (summary by Vissing et al., 2016).
For a discussion of genetic heterogeneity of autosomal dominant limb-girdle muscular dystrophy, see 603511.|OMIM|N|
C4748304|Immunodeficiency-58 is an autosomal recessive primary immunologic disorder characterized by early-onset skin lesions, including eczematous dermatitis, infectious abscesses, and warts, recurrent respiratory infections or allergies, and chronic persistent infections with candida, Molluscum contagiosum, mycobacteria, EBV, bacteria, and viruses. Some patients may have gastrointestinal involvement, including inflammatory bowel disease, EBV+ smooth muscle tumors, and esophagitis. Immunologic analysis shows defective T-cell function with decreased Treg cells and deficient CD3/CD28 costimulation responses in both CD4+ and CD8+ T cells. B-cell function may also be impaired (summary by Wang et al., 2016 and Alazami et al., 2018).|OMIM|N|
C4748320|MDDGC8 is an autosomal recessive muscular dystrophy with onset in childhood. The phenotype is highly variable: some patients may have gait difficulties and impaired intellectual development, whereas others may be clinically asymptomatic. Common features include calf hypertrophy and increased serum creatine kinase, and muscle biopsy often shows dystrophic features (summary by Endo et al., 2015). The disorder is part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1; 128239), collectively known as 'dystroglycanopathies' (Godfrey et al., 2007).
For a discussion of genetic heterogeneity of muscular dystrophy- dystroglycanopathy type C, see MDDGC1 (609308).|OMIM|N|
C4748327|The clinical manifestations of LAMA2 muscular dystrophy (LAMA2-MD) comprise a continuous spectrum ranging from severe congenital muscular dystrophy type 1A (MDC1A) to milder late-onset LAMA2-MD. MDC1A is typically characterized by neonatal profound hypotonia, poor spontaneous movements, and respiratory failure. Failure to thrive, gastroesophageal reflux, aspiration, and recurrent chest infections necessitating frequent hospitalizations are common. As disease progresses, facial muscle weakness, temporomandibular joint contractures, and macroglossia may further impair feeding and can affect speech. In late-onset LAMA2-MD onset of manifestations range from early childhood to adulthood. Affected individuals may show muscle hypertrophy and develop a rigid spine syndrome with joint contractures, usually most prominent in the elbows. Progressive respiratory insufficiency, scoliosis, and cardiomyopathy can occur.|GeneReviews|N|
C4748334|Autosomal dominant deafness-74 (DFNA74) is characterized by nonsyndromic postlingual progressive hearing loss, with onset in the third decade of life in most affected individuals (Wang et al., 2018).|OMIM|N|
C4748341|Developmental and epileptic encephalopathy-67 (DEE67) is characterized by the onset of various types of seizures in the first months of life, although later onset may occur in milder cases. The seizures tend to be resistant to treatment. Affected individuals have global developmental delay with impaired motor and intellectual development, poor or absent speech, movement disorders, and stereotypic or autistic behavior (summary by Chatron et al., 2018).
For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350.|OMIM|N|
C4748348|MFRG is an autosomal recessive syndrome in which microcephaly, unilateral renal agenesis, ambiguous genitalia, and facial dysmorphisms, including severe micrognathia, are observed in most patients. Variable brain, cardiac, and skeletal anomalies are present, including corpus callosum agenesis or dysgenesis, lissencephaly, atrial and ventricular septal defects, patent ductus arteriosus, hypoplastic right ventricle, and joint contractures (Shaheen et al., 2016).|OMIM|N|
C4748357|DEE95 is a severe autosomal recessive developmental disorder characterized by severely impaired global development, hypotonia, weakness, ataxia, coarse facial features, and intractable seizures. More variable features may include abnormalities of the hands and feet, inguinal hernia, and feeding difficulties. The disorder is part of a group of similar neurologic disorders resulting from biochemical defects in the glycosylphosphatidylinositol (GPI) biosynthetic pathway (summary by Nguyen et al., 2018).
For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350.
For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (610293).|OMIM|N|
C4748364|An atypical form of Usher syndrome, here designated type IV (USH4), is an autosomal recessive disorder characterized by late onset of retinitis pigmentosa and usually late-onset of progressive sensorineural hearing loss without vestibular involvement (summary by Khateb et al., 2018).
For a discussion of genetic heterogeneity of Usher syndrome, see 276900.|OMIM|N|
C4748374|DFNB111 is characterized by early-onset, moderate to severe sensorineural hearing loss with no vestibular involvement (Wesdorp et al., 2018; Bademci et al., 2018).|OMIM|N|
C4748387|Extraoral halitosis due to methanethiol oxidase deficiency (EHMTO) is a malodor syndrome resulting from an inborn error of metabolism. Breath odor is cabbage-like and results from high levels of methanethiol and dimethylsulfide in breath. Elevated urinary excretion of dimethylsulfone (DMSO2) is diagnostic (Pol et al., 2018).|OMIM|N|
C4748395|Spermatogenic failure-33 (SPGF33) is characterized by multiple morphologic abnormalities of the flagella (MMAF), resulting in immotile spermatozoa and infertility. Short and irregular-caliber flagella are primarily observed, as well as absent and coiled flagella, and abnormalities of the acrosome, head, and base are also present (Kherraf et al., 2018).
For a general phenotypic description and a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).|OMIM|N|
C4748403|Spermatogenic failure-34 (SPGF34) is characterized by multiple morphologic abnormalities of the flagella (MMAF), resulting in immotile spermatozoa and infertility. Irregular-caliber, short, and coiled flagella are primarily observed, as well as absent flagella, and abnormalities of the axoneme are also present (Martinez et al., 2018).
For a general phenotypic description and a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).|OMIM|N|
C4748408|Hennekam lymphangiectasia-lymphedema syndrome-3 (HKKLLS3) is characterized by widespread congenital edema that is more severe in more dependent areas of the body. Associated features include facial dysmorphism and protein-losing enteropathy of variable severity (Brouillard et al., 2017).
For a discussion of genetic heterogeneity of Hennekam lymphangiectasia-lymphedema syndrome, see HKLLS1 (235510).|OMIM|N|
C4748418|External ophthalmoplegia with rib and vertebral anomalies (EORVA) is characterized by congenital nonprogressive external ophthalmoplegia and ptosis, with torticollis and scoliosis developing during childhood. In addition, patients exhibit hypoplastic or missing ribs with fusion anomalies (Di Gioia et al., 2018).|OMIM|N|
C4748427|Squalene synthase deficiency (SQSD) is a rare inborn error of cholesterol biosynthesis with multisystem clinical manifestations similar to Smith-Lemli-Optiz syndrome. Key clinical features include facial dysmorphism, a generalized seizure disorder presenting in the neonatal period, nonspecific structural brain malformations, cortical visual impairment, optic nerve hypoplasia, profound developmental delay / intellectual disability, dry skin with photosensitivity, and genital malformations in males.|GeneReviews|N|
C4748428|IDDMSSD is a neurodevelopmental disorder characterized by impaired intellectual development, poor speech, postnatal macrocephaly, and seizures (Harms et al., 2018).|OMIM|N|
C4748435|Combined pituitary hormone deficiency (CPHD) in man denotes impaired production of growth hormone (GH; 139250) and one or more of the other 5 anterior pituitary hormones. Some patients exhibit only GH deficiency, although approximately 50% of isolated GH deficiency progresses to CPHD (Gergics et al., 2021). Individuals with CPHD7 have been reported with isolated GH deficiency as well as combined deficiencies including thyroid-stimulating hormone (TSH; see 188540) and/or prolactin (PRL; 176760). In addition to severe postnatal short stature, patients exhibit delayed bone age and hypoplasia of the anterior pituitary, as well as distinctive facial dysmorphisms including frontal bossing and depressed nasal bridge (Argente et al., 2014; Verberne et al., 2020; Yamada et al., 2021).
For general phenotypic information and a discussion of genetic heterogeneity of CPHD, see 613038.|OMIM|N|
C4748442|Joubert syndrome-35 (JBTS35) is an autosomal recessive disorder characterized by brain malformations that result in developmental delay, oculomotor apraxia, and hypotonia. Some patients have renal and retinal involvement (Alkanderi et al., 2018).
For a discussion of genetic heterogeneity of Joubert syndrome, see JBTS1 (213300).|OMIM|N|
C4748455|Krakow-type spondyloepimetaphyseal dysplasia is characterized by severe skeletal dysplasia, severe immunodeficiency, and developmental delay (Csukasi et al., 2018).|OMIM|N|
C4748484|CAFDADD is a multisystemic developmental disorder with variable cardiac and digital anomalies and facial dysmorphism. Some patients may have seizures and ocular/aural abnormalities (Tokita et al., 2018).|OMIM|N|
C4748488|Bone marrow failure syndrome-5 (BMFS5) is a hematologic disorder characterized by infantile onset of severe red cell anemia requiring transfusion. Additional features include hypogammaglobulinemia, poor growth with microcephaly, developmental delay, and seizures (summary by Toki et al., 2018)
For a discussion of genetic heterogeneity of BMFS, see BMFS1 (614675).|OMIM|N|
C4748496|Osteochondrodysplasia, brachydactyly, and overlapping malformed digits (OCBMD) is characterized by bilateral symmetric skeletal defects that primarily affect the limbs. Affected individuals have mild short stature due to shortening of the lower leg bones, as well as hand and foot malformations, predominantly brachydactyly and overlapping digits. Other skeletal defects include scoliosis, dislocated patellae and fibulae, and pectus excavatum (Shabbir et al., 2018).|OMIM|N|
C4748517|Diarrhea-9 (DIAR9) is a form of neonatal-onset chronic diarrhea characterized by an osmotic diarrhea that is not substrate specific, abnormal crypt and villus architecture, and significant fat malabsorption (O'Connell et al., 2018).
For a discussion of genetic heterogeneity of diarrhea, see DIAR1 (214700).|OMIM|N|
C4748527|Stress-induced childhood-onset neurodegeneration with variable ataxia and seizures (CONDSIAS) is an autosomal recessive neurodegenerative disorder with onset in the first years of life following normal early development. Patient have cyclic episodic deterioration in response to stress, such as infection or febrile illness. The severity is highly variable: some patients develop seizures early in life that are associated with loss of developmental milestones and early sudden death in childhood, whereas others present at a later age with muscle weakness, gait ataxia, impaired speech, more subtle clinical deterioration, and cognitive decline. Neurologic involvement includes gait ataxia, cerebellar signs associated with cerebellar atrophy, generalized brain atrophy, impaired intellectual development, hearing loss, and peripheral neuropathy (summary by Ghosh et al., 2018).|OMIM|N|
C4748536|Retinitis pigmentosa-83 (RP83) is characterized by onset of night blindness in the first decade of life, with decreased central vision in the second decade of life in association with retinal degeneration. The retinal dystrophy is associated with cataract, and macular edema has also been reported in some patients (Holtan et al., 2019).|OMIM|N|
C4748540|Complex cortical dysplasia with other brain malformations-9 is a severe autosomal recessive disorder characterized by profoundly impaired motor and cognitive development apparent from early infancy. Affected individuals develop intractable seizures and are unable to speak or ambulate. Brain imaging shows pachygyria as well as hypogenesis of the corpus callosum and other variable brain abnormalities. The phenotype results from impaired cortical neuronal migration (summary by Schaffer et al., 2018).
For a discussion of genetic heterogeneity of CDCBM, see CDCBM1 (614039).|OMIM|N|
C4748545|NPHS17, a disease of the renal glomerular filter, is characterized by proteinuria, edema, and hypoalbuminemia. It does not respond to drug treatment and inevitably progresses to end-stage renal disease, thus requiring dialysis or renal transplantation for survival. Renal histology shows focal segmental glomerulosclerosis (Braun et al., 2018).
For a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome, see NPHS1 (256300).|OMIM|N|
C4748549|NPHS18, a disease of the renal glomerular filter, is characterized by proteinuria, edema, and hypoalbuminemia. It does not respond to drug treatment and inevitably progresses to end-stage renal disease, thus requiring dialysis or renal transplantation for survival. Renal histology shows focal segmental glomerulosclerosis (Braun et al., 2018).
For a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome, see NPHS1 (256300).|OMIM|N|
C4748552|NPHS19, a disease of the renal glomerular filter, is characterized by proteinuria, edema, and hypoalbuminemia. It does not respond to drug treatment and inevitably progresses to end-stage renal disease, thus requiring dialysis or renal transplantation for survival. Renal histology shows focal segmental glomerulosclerosis (summary by Braun et al., 2018).|OMIM|N|
C4748560|Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings.
Ectodermal dysplasia-14 of the hair/tooth type (ECTD14) is primarily characterized by scalp hypotrichosis and hypodontia. Some patients have decreased sweating, and some show subtle facial dysmorphism (Peled et al., 2016).
Rabie et al. (2022) tabulated the features of 24 patients with TSPEAR-associated ectodermal dysplasia, and found that of the various ectodermal derivatives, teeth were the most affected (82.6%), followed by hair (78.3%), nails (43.5%), and sweat glands (39.1%). The authors also noted that TSPEAR-associated dysmorphic facial features varied according to ethnic origin.|OMIM|N|
C4748569|Orthostatic hypotension-2 is an autosomal recessive disorder characterized by severe orthostatic hypotension, recurrent hypoglycemia, and low norepinephrine levels. The disorder has onset in infancy or early childhood. Some patients may also have renal dysfunction and reduced life expectancy. The disorder results from a defect in the biosynthesis of norepinephrine from dopamine due to a cofactor deficiency.
For a discussion of genetic heterogeneity of ORTHYP, see ORTHYP1 (223360).|OMIM|N|
C4748579|Diarrhea-10 (DIAR10) is a protein-losing enteropathy characterized by intractable secretory diarrhea and massive protein loss due to leaky fenestrated capillaries. Features include early-onset anasarca, severe hypoalbuminemia, hypogammaglobulinemia, and hypertriglyceridemia, as well as electrolyte abnormalities. Some patients exhibit facial dysmorphism and cardiac and renal anomalies. Intrafamilial variability has been observed, and the disease can be severe, with death occurring in infancy in some patients (Broekaert et al., 2018; Kurolap et al., 2018).
For a discussion of genetic heterogeneity of diarrhea, see DIAR1 (214700).|OMIM|N|
C4748602|Periventricular nodular heterotopia-8 (PVNH8) is a neurologic disorder characterized by abnormal neuronal migration during brain development, resulting in delayed psychomotor development. Three patients have been reported (Ge et al., 2016).
For a phenotypic description and a discussion of genetic heterogeneity of periventricular heterotopia, see PVNH1 (300049).|OMIM|N|
C4748608|Congenital hypomyelinating neuropathy-3 is an autosomal recessive neurologic disorder characterized by onset of neurogenic muscle impairment in utero. Affected individuals present at birth with severe hypotonia, often causing respiratory insufficiency or failure and inability to swallow or feed properly. They have profoundly impaired psychomotor development and may die in infancy or early childhood. Those that survive are unable to sit or walk. Sural nerve biopsy shows hypomyelination of the nerve fibers, and brain imaging often shows impaired myelination and cerebral and cerebellar atrophy. Nerve conduction velocities are severely decreased (about 10 m/s) or absent due to improper myelination (summary by Vallat et al., 2016 and Low et al., 2018).
For a discussion of genetic heterogeneity of CHN, see CHN1 (605253).|OMIM|N|
C4748626|Ovarian dysgenesis-8 (ODG8) is characterized by complete lack of estrogen action, resulting in absent breast development, primary amenorrhea, and osteoporosis (Lang-Muritano et al., 2018).
For a discussion of genetic heterogeneity of ovarian dysgenesis, see ODG1 (233300).|OMIM|N|
C4748647|CMD2C is characterized by dilated cardiomyopathy of variable severity, with age of onset ranging from 2 to 20 years. Affected individuals exhibit reduction in coenzyme A (CoA) levels. Some severely affected children die in the first few years of life (Iuso et al., 2018).
For a general phenotypic description and a discussion of genetic heterogeneity of dilated cardiomyopathy (CMD), see 115200.|OMIM|N|
C4748648|Abnormally high volume of blood in the left ventricle at the end of diastole (just before systole).|HPO|N|
C4748657|Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy-2 (PLOSL2), or Nasu-Hakola disease, is a recessively inherited presenile frontal dementia with leukoencephalopathy and basal ganglia calcification. In most cases the disorder first manifests in early adulthood as pain and swelling in ankles and feet, followed by bone fractures. Neurologic symptoms manifest in the fourth decade of life as a frontal lobe syndrome with loss of judgment, euphoria, and disinhibition. Progressive decline in other cognitive domains begins to develop at about the same time. The disorder culminates in a profound dementia and death by age 50 years (summary by Klunemann et al., 2005).
For a discussion of genetic heterogeneity of polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy, see 221770.|OMIM|N|
C4748658|Intellectual developmental disorder and retinitis pigmentosa (IDDRP) is characterized by mild to moderate intellectual disability and typical features of RP. Patients experience reduced night vision, constriction of visual fields, and reduced visual acuity; optic disc pallor, attenuated retinal blood vessels, and bone-spicule pigmentation are seen on funduscopy. Attention-deficit/hyperactivity disorder is observed in some patients (Tatour et al., 2017).|OMIM|N|
C4748670|Capillary malformation-arteriovenous malformation (CM-AVM) syndrome is characterized by the presence of multiple small (1-2 cm in diameter) capillary malformations mostly localized on the face and limbs. Some affected individuals also have associated arteriovenous malformations (AVMs) and/or arteriovenous fistulas (AFVs), fast-flow vascular anomalies that typically arise in the skin, muscle, bone, spine, and brain; life-threatening complications of these lesions can include bleeding, congestive heart failure, and/or neurologic consequences. Symptoms from intracranial AVMs/AVFs appear to occur early in life. Several individuals have Parkes Weber syndrome (multiple micro-AVFs associated with a cutaneous capillary stain and excessive soft-tissue and skeletal growth of an affected limb).|GeneReviews|N|
C4748688|Developmental and epileptic encephalopathy-68 (DEE68) is an autosomal recessive neurologic disorder characterized by onset of twitching and/or myoclonic jerks in infancy. The disorder progresses to refractory generalized tonic-clonic seizures, often resulting in status epilepticus, loss of developmental milestones, and early death. Other features include delayed development, axial hypotonia, spasticity of the limbs, and clonus. Brain imaging may show cortical atrophy (summary by Barel et al., 2017).
For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350.|OMIM|N|
C4748694|Immunodeficiency 15A (IMD15A) is an autosomal dominant primary immunodeficiency disorder characterized by relatively late onset of recurrent respiratory tract infections and lymphopenia, combined with immune activation of both CD4+ and CD8+ T cells. One patient presented with inflammatory disease and possible ectodermal defect.|OMIM|N|
C4748701|Snijders Blok-Campeau syndrome (SNIBCPS) is an autosomal dominant neurodevelopmental disorder characterized by global developmental delay with impaired intellectual development and delayed speech acquisition. Affected individuals tend to have expressive language deficits, with speech apraxia and dysarthria. Other features include macrocephaly and characteristic facial features, such as prominent forehead and hypertelorism, hypotonia, and joint laxity. The severity of the neurologic deficits and presence of nonneurologic features is variable (summary by Snijders Blok et al., 2018).|OMIM|N|
C4748708|A rare genetic disease characterized by infantile onset of severe inflammatory bowel disease manifesting with bloody diarrhea and failure to thrive, and central nervous system disease with global developmental delay and regression, impaired speech, hypotonia, hyperreflexia, and epilepsy. Brain imaging shows global cerebral atrophy, thin corpus callosum, delayed myelination, and posterior leukoencephalopathy. Cases with recurrent infections and impaired T-cell responses to stimulation, as well as decreased T-cell subsets, have been reported.|ORDO|N|
C4748715|Baker-Gordon syndrome (BAGOS) is a neurodevelopmental disorder characterized by infantile hypotonia, ophthalmic abnormalities, moderate to profound global developmental delay, poor or absent speech, behavioral abnormalities, hyperkinetic movements, and EEG abnormalities in the absence of overt seizures (summary by Baker et al., 2018).|OMIM|N|
C4748721|Postaxial polydactyly type A9 is characterized by one or more posterior or postaxial digits. There is intrafamilial and intraindividual variability (Schrauwen et al., 2018).|OMIM|N|
C4748732|MRT66 is a nonsyndromic autosomal recessive intellectual developmental disorder with delayed speech development, neuropsychiatric symptoms, and relatively normal life span (Philips et al., 2017).|OMIM|N|
C4748741|Vertebral anomalies and variable endocrine and T-cell dysfunction is a syndrome characterized by an overlapping spectrum of features. Skeletal malformations primarily involve the vertebrae, and endocrine abnormalities involving parathyroid hormone (PTH; 168450), growth hormone (GH1; 139250), and the thyroid gland have been reported. T-cell abnormalities have been observed, with some patients showing thymus gland aplasia or hypoplasia. Patients have mild craniofacial dysmorphism, and some show developmental delay or behavioral problems. Cardiac defects may be present (Liu et al., 2018).|OMIM|N|
C4748790|Mitochondrial complex I deficiency nuclear type 18 (MC1DN18) is an autosomal recessive disorder of the oxidative phosphorylation (OXPHOS) system. Affected individuals present with lactic acidemia soon after birth. Clinical features may include hypertonia or hypotonia, poor feeding, respiratory problems, leukomalacia, and seizures. Death occurs by 6 months of age (Saada et al., 2009).
For a discussion of genetic heterogeneity of mitochondrial complex I deficiency, see 252010.|OMIM|N|
C4748799|Mitochondrial complex I deficiency nuclear type 23 (MC1DN23) is an autosomal recessive nuclear-encoded mitochondrial disease with clinical presentations ranging from movement disorder phenotypes (dystonia and/or spasticity) to isolated optic atrophy. MRI findings may include basal ganglia abnormalities or optic atrophy (summary by Magrinelli et al., 2022).|OMIM|N|
C4748841|Primary ciliary dyskinesia-39 (CILD39) is an autosomal recessive disorder characterized by chronic sinopulmonary infections beginning soon after birth and laterality defects in about 50% of patients. Although patient nasal ciliary samples have normal structure, detailed studies may show ciliary kinetic defects in some patients (summary by Bonnefoy et al., 2018).
For a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see 244400.|OMIM|N|
C4748854|Although mitochondria and mitochondrial DNA (mtDNA) are typically maternally inherited, evidence exists for rare occurrences of paternal mtDNA transmission (Luo et al., 2018).|OMIM|N|
C4748855|DFNB112 is characterized by postlingual progressive sensorineural hearing impairment (Girotto et al., 2013).|OMIM|N|
C4748869|The disorder of congenital mirror movements (CMM) is characterized by early-onset, obvious mirror movements (involuntary movements of one side of the body that mirror intentional movements on the opposite side) in individuals who typically have no other clinical signs or symptoms. Although mirror movements vary in severity, most affected individuals have strong and sustained mirror movements of a lesser amplitude than the corresponding voluntary movements. Mirror movements usually persist throughout life, without deterioration or improvement, and are not usually associated with subsequent onset of additional neurologic manifestations. However, a subset of affected individuals with a heterozygous pathogenic variant in DCC may have CMM with abnormalities of the corpus callosum and concomitant cognitive and/or neuropsychiatric issues.|GeneReviews|N|
C4748872|ACCIID is characterized by arthrogryposis, cleft palate, craniosynostosis, micrognathia, short stature, and impaired intellectual development. Seizures and bony abnormalities (severe slenderness of the ribs and tubular bones and perinatal fractures) have been observed (Mizuguchi et al., 2018).|OMIM|N|
C4748876|Epidermodysplasia verruciformis-3 (EV3) is characterized by onset in childhood or early adulthood of persistent disseminated flat warts and pityriasis versicolor-like lesions of the skin that are induced by cutaneous human papillomaviruses (HPVs) of the beta genus. Some patients develop nonmelanoma skin cancer, particularly on areas of the body exposed to the sun. Patients are otherwise healthy and normally resistant to other microorganisms, including other viruses and skintropic pathogens, and even all other cutaneous and mucosal HPVs (de Jong et al., 2018).
For a discussion of genetic heterogeneity of susceptibility to epidermodysplasia verruciformis, see EV1 (226400).|OMIM|N|
C4748898|Trichohepatoneurodevelopmental syndrome is a complex multisystem disorder characterized by woolly or coarse hair, liver dysfunction, pruritus, dysmorphic features, hypotonia, and severe global developmental delay (Morimoto et al., 2018).|OMIM|N|
C4748924|A rare genetic overgrowth syndrome characterised by global developmental delay, macrosomia with subsequent somatic overgrowth, bilateral cystic lung lesions, congenital nephromegaly and bilateral Wilms tumour. Craniofacial dysmorphism includes macrocephaly, frontal bossing, large anterior fontanelle, mild hypertelorism, ear pit, flat nasal bridge, anteverted nares and mild micrognathia. Additional features may include brain and skeletal anomalies, enlarged protuberant abdomen, fat pads on dorsum of feet and toes, and rugated soles with skin folds, as well as umbilical/inguinal hernia and autistic behaviour.|SNOMEDCT_US|N|
C4748927|Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations (MCCCHCM) is an autosomal dominant neurodevelopmental disorder characterized by global developmental delay, impaired intellectual development, and characteristic brain abnormalities on brain imaging. Affected individuals have enlargement of the corpus callosum, enlarged ventricles, and cerebellar and brainstem hypoplasia. Other features may include lack of speech development, gait instability, and seizures. Some patients with MAST1 mutations may have impaired intellectual development and/or autism spectrum disorder without significant findings on brain imaging (summary by Tripathy et al., 2018).|OMIM|N|
C4748930|Hypotrichosis-14 (HYPT14) is characterized by sparse to absent lanugo-like scalp hair, sparse and brittle eyebrows, and sparse eyelashes and body hair (Romano et al., 2018).
For a discussion of genetic heterogeneity of hypotrichosis, see HYPT1 (605389).|OMIM|N|
C4748934|Childhood-onset neurodegeneration with cerebellar atrophy (CONDCA) is a severe autosomal recessive neurodevelopmental disorder affecting the central and peripheral nervous system. Patients present in the first year of life with global developmental delay, impaired intellectual development, poor or absent speech, and motor abnormalities. Brain imaging shows cerebellar atrophy. The severity is variable, but death in childhood may occur (Shashi et al., 2018).|OMIM|N|
C4748939|Fibrosis, neurodegeneration, and cerebral angiomatosis (FINCA) is characterized by severe progressive cerebropulmonary symptoms, resulting in death in infancy from respiratory failure. Features include malabsorption, progressive growth failure, recurrent infections, chronic hemolytic anemia, and transient liver dysfunction. Neuropathology shows increased angiomatosis-like leptomeningeal, cortical, and superficial white matter vascularization and congestion, vacuolar degeneration and myelin loss in white matter, as well as neuronal degeneration. Interstitial fibrosis and granuloma-like lesions are seen in the lungs, and there is hepatomegaly with steatosis and collagen accumulation (Uusimaa et al., 2018).|OMIM|N|
C4748940|Charcot-Marie-Tooth disease type 1G is an autosomal dominant progressive peripheral sensorimotor neuropathy characterized by distal muscle weakness and atrophy with onset in the first or second decade. Affected individuals have difficulty walking, distal sensory impairment with decreased or absent reflexes, and often have foot deformities. Median motor nerve conduction velocities (NCV) are decreased (less than 38 m/s) and sural nerve biopsy shows myelin defects and onion bulb formation (summary by Hong et al., 2016 and Motley et al., 2016).
For a phenotypic description and a discussion of genetic heterogeneity of autosomal dominant Charcot-Marie-Tooth disease type 1, see CMT1B (118200).|OMIM|N|
C4748946|Cardiac-urogenital syndrome is characterized by partial anomalous pulmonary venous return in association with tracheal anomalies, pulmonary hypoplasia, congenital diaphragmatic hernia, thyroid fibrosis, thymic involution, cleft spleen, penoscrotal hypospadias, and cryptorchidism (Pinz et al., 2018).|OMIM|N|
C4748951|Congenital absence of the right-sided diaphragm.|HPO|N|
C4748952|Fusion of the liver with the lung.|HPO|N|
C4748969|Hyper-IgE syndrome-3 with recurrent infections (HIES3) is an autosomal recessive immunologic disorder characterized by childhood onset of atopic dermatitis, skin infections particularly with Staphylococcus aureus, recurrent sinopulmonary infections, and increased serum IgE and IgG. Patients are susceptible to bacterial and fungal infections, including chronic mucocutaneous candidiasis. Immunologic workup shows impaired differentiation of CD4+ T cells into T-helper 17 cells, decreased memory B cells, and often decreased NK cells (summary by Beziat et al., 2018).
For a discussion of genetic heterogeneity of hyper-IgE syndrome, see HIES1 (147060).|OMIM|N|
C4748978|Visual impairment and progressive phthisis bulbi is characterized by poor vision at birth, with development of bilateral phthisis by adulthood (Ansar et al., 2018).|OMIM|N|
C4748984|The MCIDDS syndrome is characterized by microcephaly and growth retardation, congenital cataracts, impaired intellectual development with attention deficit-hyperactivity disorder, and dystonia, with striatal thinning seen on MRI (Al-Owain et al., 2013).|OMIM|N|
C4748988|Developmental and epileptic encephalopathy-69 (DEE69) is an autosomal dominant severe neurodevelopmental encephalopathic disorder characterized by early-onset refractory seizures, hypotonia, and profoundly impaired development often associated with macrocephaly, hyperkinetic movements, and contractures. The disorder can sometimes result in early death. Some patients may have a favorable seizure response to topiramate medication (summary by Helbig et al., 2018).
For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350.|OMIM|N|
C4748997|Familial Behcet-like autoinflammatory disease-3 (AIFBL3) is an autosomal dominant disorder characterized predominantly by chronic mucocutaneous ulceration (summary by Lecerf et al., 2023).
For a general phenotypic description and a discussion of genetic heterogeneity of AIFBL, see AIFBL1 (616744).|OMIM|N|
C4749003|SMALED2B is a severe neuromuscular disorder with onset in utero. Affected individuals show decreased fetal movements and are usually born with congenital contractures consistent with arthrogryposis multiplex congenita (AMC). After birth, they have severe hypotonia and muscle atrophy as well as respiratory insufficiency due to muscle weakness. Some patients may have dysmorphic facial features and/or abnormalities on brain imaging. Many patients die in early childhood (summary by Storbeck et al., 2017)
For discussion of genetic heterogeneity of lower extremity-predominant spinal muscular atrophy, see SMALED1 (158600).|OMIM|N|
C4749023|Developmental and epileptic encephalopathy-70 (DEE70) is neurologic disorder characterized by the onset of epileptic spasms or seizures in the first months of life. EEG may show hypsarrhythmia, consistent with a clinical diagnosis of West syndrome. Affected individuals show severely delayed psychomotor development with impaired or absent walking and language skills; intellectual impairment ranges from moderate to severe (summary by Hamada et al., 2018).
For a discussion of genetic heterogeneity of DEE, see 308350.|OMIM|N|
C4749028|Primary ciliary dyskinesia-40 (CILD40) is an autosomal recessive disorder with a relatively mild respiratory phenotype compared to other CILDs. Patients present in childhood with mild upper respiratory symptoms and infections, but typically do not develop serious lung disease. Nitric oxide levels are low-normal or normal. All reported patients have had situs inversus, including several with severe congenital cardiac malformations, but left-right body asymmetry is still theoretically random and would occur in 50% of patients (summary by Loges et al., 2018).
For a discussion of genetic heterogeneity of primary ciliary dyskinesia and Kartagener syndrome, see CILD1 (244400).|OMIM|N|
C4749042|Epidermodysplasia verruciformis-4 is an autosomal recessive immunologic disorder characterized by increased susceptibility to certain human papilloma viruses (HPV) that cause warts and skin lesions. Affected individuals present in childhood with disseminated flat warts and psoriatic-like lesions that do not respond to treatment. Immunologic workup shows defects in T-cell development and signaling (summary by Crequer et al., 2012).
For a discussion of genetic heterogeneity of susceptibility to epidermodysplasia verruciformis, see EV1 (226400).|OMIM|N|
C4749043|Epidermodysplasia verruciformis-5 is an autosomal recessive immunologic disorder characterized by onset of warts and verrucous or plaque-like skin lesions associated with HPV infection. Immunologic workup shows T-cell lymphopenia, particularly affecting CD4+ T cells. There is an increased risk of skin malignancy, and some patients may have other symptoms of immune dysfunction (summary by Horev et al., 2015).
For a discussion of genetic heterogeneity of susceptibility to epidermodysplasia verruciformis, see EV1 (226400).|OMIM|N|
C4749270|A rare partial autosomal monosomy with characteristics of mild facial dysmorphism variably including macrocephaly, broad forehead, hypertelorism or hypotelorism, deep-set eyes, upslanting or downslanting palpebral fissures, low-set ears, flat nasal bridge, smooth philtrum, thin upper lip, cleft palate, cerebellar and cardiac malformations, psychomotor development delay, attention deficit hyperactivity disorder, autism. Other rare features may include congenital breast aplasia, arachnodactyly, joint hyperlaxity and clubfoot, feeding difficulties, failure to thrive.|SNOMEDCT_US|N|
C4749272|A rare neuro-ophthalmological disease with characteristics of severe microcephaly of prenatal onset (with diminutive anterior fontanelle and sutural ridging), growth retardation, global developmental delay and intellectual disability (ranging from mild to profound), dysmorphic features (sloping forehead, micro/retrognathia, prominent ears) and visual impairments (including microphthalmia to anophthalmia, retinopathy or multiple punched-out retinal lesions, retinal folds with retinal detachment, optic nerve hypoplasia, strabismus, nystagmus). Brain MRI may show reduced cortical size, cerebral hemispheres, corpus callosum, pachygyria, simplified gyral folding or normal pattern. Other associated features include epilepsy and neurological deficits.|SNOMEDCT_US|N|
C4749273|Rare epilepsy with characteristics of seizures with viscerosensory or experiential auras, onset in adolescence or early adulthood and good prognosis.|SNOMEDCT_US|N|
C4749274|A rare genetic congenital secondary polycythemia disorder characterized by increased hemoglobin, hematocrit and erythropoietin serum levels and normal oxygen affinity, which usually manifests with headache, dizziness, dyspnea and/or plethora. Patients present an increased risk of hemorrhage, thrombosis and early death. There is evidence this disease is caused by homozygous or compound heterozygous mutation in the VHL gene on chromosome 3p25.|SNOMEDCT_US|N|
C4749275|A rare neurological disease with characteristics of congenital narrowing of the bony anatomy of the cervical spinal canal. This disorder predisposes the individual to symptomatic neural compression with manifestations including cramps, paraesthesia, pain, muscle hypertonia and weakness, myelopathy and sphincter disturbances.|SNOMEDCT_US|N|
C4749276|A rare chromosomal anomaly associated with various phenotypic features depending on the size of the deletion. The clinical features may include global developmental delay, hypotonia, congenital heart defects, dysmorphic features (high forehead, small palpebral fissures, epicanthi, blepharophimosis, broad and flat nasal bridge, broad philtrum, thin upper lip, high arched palate, pointed chin, malformed ears). High-pitched, weak cry, seizures and various dental and ophthalmological anomalies were also reported.|SNOMEDCT_US|N|
C4749277|A rare chromosomal anomaly associated with a wide range of phenotypic features depending on the size of the deletion. It may present with intrauterine growth retardation, failure to thrive, global developmental delay, dysmorphic features (such as broad forehead, midface retrusion, broad nasal bridge, micrognathia, smooth philtrum, low-set, dysplastic ears), congenital anomalies (such as atrial septal defect, gastrointestinal anomalies, renal and urogenital malformations, agenesis of the corpus callosum) and other clinical features (such as hearing loss, visual impairment and immune dysregulation).|SNOMEDCT_US|N|
C4749281|A rare intellectual disability and epilepsy syndrome characterised by global developmental delay and mild to profound intellectual disability, multiple types of usually intractable focal and generalised seizures with variable abnormal EEG findings, and bilateral progressive parenchymal volume loss and thin corpus callosum on brain MRI.|SNOMEDCT_US|N|
C4749282|A rare cardiac malformation with characteristics of the enlargement of the left auricle without any other associated cardiac lesions. It can be asymptomatic (discovered fortuitously during routine chest imaging as an unusual cardiac shadow) or present clinically with supraventricular tachyarrhythmia, paroxysmal tachycardia, embolic events, respiratory distress, chest pain, angina pectoris or heart failure.|SNOMEDCT_US|N|
C4749283|A rare cardiac malformation characterised by the enlargement of the right auricle without any other associated cardiac lesions. It can be asymptomatic and diagnosed fortuitously, prenatally or during routine clinical examinations or it can present with heart murmur, palpitation, atrial arrhythmia, fatigue, dyspnoea or respiratory distress.|SNOMEDCT_US|N|
C4749284|A rare genetic aortic malformation defined as a presence of abnormal two-leaflet aortic valve in at least 2 first-degree relatives. It is frequently asymptomatic or may be associated with progressive aortic valve disease (aortic regurgitation and/or aortic stenosis, typically due to valve calcification) and a concomitant aortopathy (such as aortic dilation, aortic aneurysm and/or dissection).|SNOMEDCT_US|N|
C4749286|A rare form of patterned dystrophy of the retinal pigment epithelium characterised by a granular appearance in the macula, with coarse and punctiform mottling of the retinal pigment epithelium within the macular region. Association with choroidal neovascularisation has been reported.|SNOMEDCT_US|N|
C4749287|A rare neurologic disorder characterised by profound developmental delay, facial dysmorphism (including microcephaly, large anterior fontanel, hypertelorism, downslanting palpebral fissures, beaked nose, micrognathia), broad thumbs and flexion and/or extension spasms. Bilateral cataracts, hypertrophic cardiomyopathy and hydrocoele have also been reported. EEG shows hypsarrhythmic features and MRI may reveal partial agenesis of the corpus callosum, mild brain atrophy and/or ventriculomegaly. There have been no further descriptions in the literature since 1990.|SNOMEDCT_US|N|
C4749291|A rare gonosome anomaly with a variable phenotype including a female phenotype with sexual development delay, streak gonads, short stature and Turner syndrome features and male phenotype with infertility due to azoospermia.|SNOMEDCT_US|N|
C4749300|A rare non-syndromic uterovaginal malformation with characteristics of a crescent-shaped, small-sized uterus containing a single horn and fallopian tube associated with a rudimentary second horn (which can be solid or contain a cavity with functioning endometrium and be communicating or non-communicating). Urinary tract anomalies are frequently associated.|SNOMEDCT_US|N|
C4749301|PAFAH1B1-related lissencephaly/subcortical band heterotopia (SBH) comprises a spectrum of severity. Affected newborns typically have mild-to-moderate hypotonia, feeding difficulties, and poor head control. During the first years, neurologic examination typically demonstrates poor visual tracking and response to sounds, axial hypotonia, and mild distal spasticity that can transition over time to more severe spasticity. Seizures occur in more than 90% of individuals with lissencephaly and often include infantile spasms. Seizures are often drug resistant, but even with good seizure control, the best developmental level achieved (excluding the few individuals with partial lissencephaly) is the equivalent of about age three to five months. In individuals with PAFAH1B1-related lissencephaly/SBH, developmental delay ranges from mild to severe. Other findings in PAFAH1B1-related lissencephaly/SBH include feeding issues and aspiration (which may result in need for gastrostomy tube placement), progressive microcephaly, and occasional developmental regression.|GeneReviews|N|
C4749302|A uniparental disomy of chromosome 1 of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only the mother is a carrier.|SNOMEDCT_US|N|
C4749303|A rare genetic developmental defect during embryogenesis with characteristics of severe pre and postnatal growth retardation, severe microcephaly, severe developmental delay and intellectual disability, severe adult short stature and facial dysmorphism (including hypotelorism, small ears, prominent nose). Other reported features include skeletal anomalies (Madelung deformity, clinodactyly, mild lumbar scoliosis, bilateral hip dysplasia) and seizures. Absence of thelarche and menarche is also associated.|SNOMEDCT_US|N|
C4749304|A rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 13. The syndrome has characteristics of developmental delay, variable degrees of intellectual disability, retinoblastoma and craniofacial dysmorphism (including micro/dolichocephaly, high and broad forehead, prominent eyebrows, thick, anteverted ear lobes, short nose with a broad nasal bridge and bulbous tip, prominent philtrum, large mouth with thin upper lip and thick, everted lower lip). Other features reported include high birth weight, macrocephaly, pinealoma, hepatomegaly, inguinal hernia and cryptorchidism.|SNOMEDCT_US|N|
C4749332|A rare gastroenterologic disease characterized by typical clinical, endoscopic and histological features of eosinophilic esophagitis (symptomatic esophageal dysfunction associated with eosinophil-predominant mucose infiltrate), which completely remits upon proton pump inhibitor therapy.|SNOMEDCT_US|N|
C4749333|A rare intestinal disease characterized by persistent or recurrent symptoms and signs of confirmed celiac disease despite a long-term, strict, gluten-free diet, in the absence of other causes of villous atrophy or malignant complications and with or without presence of increased abnormal intraepithelial lymphocytes.|SNOMEDCT_US|N|
C4749334|A rare, genetic macular dystrophy disorder characterised by slowly progressive bull''s eye maculopathy associated, in most cases, with mild decrease in visual acuity and central scotomata. Usually, only the central retina is involved, however some cases of more widespread rod and cone anomalies have been reported. Rare additional features include empty sella turcica, impaired olfaction, renal infections, haematuria and recurrent miscarriages. Caused by mutation in the prominin-1 gene (PROM1).|SNOMEDCT_US|N|
C4749335|A rare acquired neuromuscular disease characterized by CAV3 mutation-negative rippling muscle disease in association with acetylcholine receptor antibody-mediated myasthenia gravis. Patients typically present exercise-induced, electrically silent muscle rippling with myalgia, in combination with generalized myasthenia gravis symptoms (ptosis, diplopia, neck weakness, dysphagia and dyspnea).|SNOMEDCT_US|N|
C4749340|A rare epithelial tumour of the exocrine pancreas, histologically characterised by presence of keratinisation and/or intracellular bridges and lympho vascular and perineural invasion, as well as high metastatic potential. Presents with upper abdominal and back pain, anorexia, weight loss, nausea, vomiting and jaundice.|SNOMEDCT_US|N|
C4749346|A rare infantile epilepsy syndrome characterized by age of onset between 4 and 30 months, partial sporadic seizures presenting with motion arrest, staring, cyanosis and, less common, automatisms and lateralizing signs, and characteristic interictal sleep EEG changes consisting of a spike followed by a bell-shaped slow wave in the midline region.|SNOMEDCT_US|N|
C4749347|A rare infantile epilepsy syndrome characterised by complex partial seizures presenting with motion arrest, decreased responsiveness, staring, automatisms and mild clonic movements, with or without apnoea, normal interictal EEG and focal, mostly temporal discharges in ictal EEG. Most often, seizures occur in clusters and have a good response to treatment. Psychomotor development is normal.|SNOMEDCT_US|N|
C4749348|A rare tumour of meninges arising from leptomeningeal melanocytes, characterised by diffuse infiltration of the leptomeninges (pia mater and arachnoidea) anywhere in the central nervous system. Clinical features may include stillbirth, intracranial hypertension and hydrocephalus, seizure, ataxia, syringomyelia, cranial nerve palsy, intracranial haemorrhage, sphincter dysfunction and neuropsychiatric symptoms. Transformation into malignant melanoma of the central nervous system was reported. It may be associated with congenital nevi, as a part of neurocutaneous melanosis.|SNOMEDCT_US|N|
C4749349|A rare chromosomal anomaly syndrome with characteristics of mild global developmental delay/intellectual disability with poor to absent speech, dysmorphic features (long midface, retrognathia with overbite, protruding ears), microcephaly, failure to thrive, wide-based gait and a body posture with knee and elbow flexion and hands held in a midline.|SNOMEDCT_US|N|
C4749351|A rare thyroid disease with characteristics of a gene mutation induced, temporary deficiency of thyroid hormones at birth, which later reverts to normal with or without replacement therapy in the first few months or years of life.|SNOMEDCT_US|N|
C4749367|A rare epilepsy syndrome defined by seizures originating in limbic areas of the mesial temporal lobe, particularly in the hippocampus, amygdala, and in the parahippocampal gyrus and its connections, and hippocampal sclerosis, usually unilateral or asymmetric. It is frequently associated with an initial precipitating event, such as febrile seizures, hypoxia, intracranial infection or head trauma, most often occurring in the first five years of life, followed by a latent period without seizures. Typical seizures consist of a characteristic aura that is frequently a rising epigastric sensation associated with emotional disturbances, illusions, and autonomic symptoms (widened pupils, palpitations), progressive impairment of consciousness, oro-alimentary automatisms (lip smacking, chewing, licking, tooth grinding), behavioural arrest, head deviation, dystonic postures, hand and verbal automatisms. Seizures are followed by postictal dysfunction. Initially, seizures are easily controlled with antiepileptic drugs, later they frequently become refractory and associated with progressive behavioural changes and memory deficits.|SNOMEDCT_US|N|
C4749368|A rare congenital genetic syndrome with a central nervous system malformation as a major feature. The disorder has characteristics of microcephaly, hypertonia, developmental delay and cognitive impairment, swallowing difficulty, hypernatraemia, and hypoplasia of the frontal parts and fusion of the lateral ventricles on brain MRI. Only one familial case with three affected siblings is reported and there have been no further descriptions in the literature since 1986.|SNOMEDCT_US|N|
C4749373|An extremely rare partial autosomal tetrasomy, resulting from a partial triplication of the long arm of chromosome 11, with characteristics of intellectual disability (with severe verbal impairment), short stature with small extremities, keratoconus and distinctive facial features (round, course face, upward slanting palpebral fissures, mild synophrys, large nose with thick ala nasi and triangular tip, large mouth with broad lips, short and smooth philtrum, large protruded chin, ears with adherent lobules).|SNOMEDCT_US|N|
C4749374|A rare neurologic disease characterized by the association of suction-swallowing dysfunction, abnormal laryngeal sensitivity and motility (manifesting with dyspnea or obstructive apnea-hypopnea), gastroesophageal reflux (generally resistant to medication) and cardiac vagal overactivity (e.g. brachycardia, vasovagal episodes) of varying degrees of severity. Impaired social interaction has also been reported.|SNOMEDCT_US|N|
C4749375|A rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 10. The disease has a highly variable phenotype with principle characteristics of developmental delay (usually of language and speech), variable cognitive impairment, autism spectrum disorder and attention deficit disorder. Macrocephaly and mild dysmorphic features may by associated. Overlap with other syndromes, such as Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome and juvenile polyposis syndrome has been reported.|SNOMEDCT_US|N|
C4749376|A rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 10. Characteristics include mild to moderate developmental delay, postnatal growth retardation, central hypotonia, craniofacial dysmorphism (including microcephaly, prominent forehead, flat, thick ear helices, deep-set, small eyes, epicanthus, upturned nose, bow-shaped mouth, highly arched palate, micrognathia), ocular anomalies (for example iris coloboma, retinal dysplasia, strabismus), long, slender limbs and skeletal and digital anomalies (scoliosis, poly/syndactyly). Additional features reported include cardiac defects (for example septal ventricular defect), anal atresia, and cryptorchidism.|SNOMEDCT_US|N|
C4749377|Paternal uniparental disomy of chromosome 5 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier.|SNOMEDCT_US|N|
C4749378|Paternal uniparental disomy of chromosome 6 is a uniparental disomy of paternal origin with characteristics of intrauterine growth retardation, transient neonatal diabetes mellitus, and macroglossia.|SNOMEDCT_US|N|
C4749397|A rare genetic syndromic intellectual disability with characteristics of intellectual disability, polyneuropathy, short stature and short limbs, brachydactyly, and premature ovarian insufficiency. Only one familial case with three affected females was described and there have been no further descriptions in the literature since 1971.|SNOMEDCT_US|N|
C4749398|A rare genetic developmental defect during embryogenesis syndrome with characteristics of Robin sequence (severe micrognathia, retroglossia and U-shaped cleft of the posterior palate) associated with pre and postaxial oligodactyly. Facial features can include a narrow face and narrow lower dental arch. Clinodactyly, absent phalanx, metacarpal fusions, and hypoplastic carpals have also been reported. There have been no further descriptions in the literature since 1986.|SNOMEDCT_US|N|
C4749399|A rare medullar disease defined as a development of a fluid-filled cavity or syrinx within the spinal cord due to blockage of cerebrospinal fluid circulation (for example due to basal arachnoiditis, meningeal carcinomatosis, various mass lesions), spinal cord injury (for example due to trauma, radiation necrosis, spinal abscess), spinal dysraphism or intramedullary neoplasm. It presents with neuropathic pain, numbness, muscular weakness, changes in tone or spasticity or autonomic changes (hyperhidrosis, heart rate or blood pressure instability). Selective loss of pain and temperature with relative preservation of dorsal column function (touch and pressure) are classic findings.|SNOMEDCT_US|N|
C4749400|Squamous cell carcinoma of liver and intrahepatic biliary tract is an extremely rare, primary, malignant liver and biliray tract epithelial tumor originating in the intrahepatic bile duct epithelium histologically characterized by the presence of keratinization and/or intracellular bridges. Patients typically present abdominal pain in the right upper quadrant, jaundice, nausea, vomiting, anorexia, weight loss, fever and/or dyspepsia.|ORDO|N|
C4749401|Undifferentiated carcinoma of liver and intrahepatic biliary tract is an extremely rare epithelial tumor of the liver and biliary tract which presents heterogenous histological findings and not yet fully defined clinicopathological characterisitcs. Patients usually present with nonspecific signs and symptoms, such as abdominal pain, nausea, vomiting, anorexia, weight loss and/or jaundice. Invasive growth, hight metastatic potential and a rapid clinical course are typically associated.|ORDO|N|
C4749402|An extremely rare malignant vaginal neoplasm deriving from primordial germ cells in the vagina, with typical characteristics of painless bloody vaginal discharge and a polypoid mass which protrudes from the vagina. Serum alpha-fetoprotein is usually elevated and rapid progression, local aggression and early metastasis to liver and lungs is reported.|SNOMEDCT_US|N|
C4749403|A rare genetic systemic and rheumatologic disease due to adenosine deaminase-2 inactivating mutations, combining variable features of auto inflammation, vasculitis, and a mild immunodeficiency. Variable clinical presentation includes chronic or recurrent systemic inflammation with fever, livedo reticularis or racemosa, early-onset ischemic or hemorrhagic strokes, peripheral neuropathy, abdominal pain, hepatosplenomegaly, portal hypertension, cutaneous polyarteritis nodosa, variable cytopenia and immunoglobulin deficiency.|SNOMEDCT_US|N|
C4749427|A rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 3. The syndrome has characteristics of mild to severe intellectual disability, neuropsychiatric disorders of the psychotic and dysthymic spectrum, mild distinctive facial dysmorphism (including slender face, deep-set eyes, high nasal bridge with a hooked nose, small, low set ears, short philtrum, small mouth with thin upper lip, prognathism) and a marfanoid habitus.|SNOMEDCT_US|N|
C4749428|A rare complex subtype of hereditary spastic paraplegia with characteristics of variable onset of slowly progressive lower limb spasticity and weakness and prominent cerebellar ataxia, associated with gait disturbances, dysarthria, increased deep tendon reflexes and extensor plantar responses. Additional features may include involuntary movements (such as clonus, tremor, fasciculations, chorea), decreased vibration sense, oculomotor abnormalities (for example nystagmus) and distal amyotrophy in the upper and lower limbs. Caused by homozygous mutation in the KIF1C gene on chromosome 17p13.|SNOMEDCT_US|N|
C4749429|A rare genetic syndromic intellectual disability disease with characteristics of progressive postnatal microcephaly and global developmental delay, as well as moderate to profound intellectual disability, difficulty or inability to walk, pyramidal signs (including spasticity, hyperreflexia and extensor plantar response) and thin corpus callosum revealed by brain imaging. Ophthalmologic signs (including nystagmus, strabismus and abnormal retinal pigmentation), foot deformity and genital anomalies may also be associated. Caused by homozygous mutation in the TAF2 gene on chromosome 8q23.|SNOMEDCT_US|N|
C4749431|A very rare complex subtype of hereditary spastic paraplegia that presents in infancy with delayed motor development (crawling, walking) and has characteristics of lower limb spasticity, increased deep tendon reflexes, extensor plantar responses, impaired vibratory sensation at ankles, amyotrophy and borderline intellectual disability. Additional signs may include gait disturbances, Achilles tendon contractures, and scoliosis and cerebellar abnormalities.|SNOMEDCT_US|N|
C4749434|A rare genetic motor neuron disease with characteristics of progressive early respiratory failure associated with diaphragm paralysis, distal muscular weakness, joint contractures, and axial hypotonia with preserved antigravity limb movements. The phenotype overlaps considerably with SMARD type 1 but is differentiated by a mutation in a different gene.|SNOMEDCT_US|N|
C4749455|A rare syndromic obesity due to complex chromosomal rearrangement with characteristics of development delay and intellectual disability, childhood-onset obesity, seizures, poor coordination and broad-based gait, macrocephaly and mild dysmorphic features (such as narrow palpebral fissures, malar hypoplasia and thin upper lips), eczema, ocular abnormalities and a social personality.|SNOMEDCT_US|N|
C4749456|A rare genetic neurological with characteristics of intrauterine growth retardation, failure to thrive, infantile onset of sensorineural deafness, severe global developmental delay or absent psychomotor development, paraplegia or quadriplegia with dystonia and pyramidal signs, microcephaly, ocular abnormalities (strabismus, optic atrophy), mildly dysmorphic features (deep-set eyes, prominent nasal bridge, micrognathia), seizures and abnormalities of brain morphology (hypomyelinating white matter changes, cerebral atrophy). Caused by hemizygous mutation in the BCAP31 gene on chromosome Xq28.|SNOMEDCT_US|N|
C4749458|A rare partial autosomal monosomy with characteristics of weak fetal movements, severe infantile hypotonia and feeding difficulties that spontaneously improve with time, urogenital abnormalities (hypospadias or hypoplastic labia majora), global development delay, mild intellectual disability and facial dysmorphism (dolichocephaly, frontal bossing, bilateral ptosis, midface retrusion, open mouth with tented upper lip vermilion). Affected individuals have borderline elevated serum lactate but no cystinuria.|SNOMEDCT_US|N|
C4749459|A rare congenital disorder of glycosylation with characteristics of neonatal hypotonia, global development delay, developmental regress and severe to profound intellectual disability, infantile onset seizures that are initially associated with febrile episodes with subsequent transition to unprovoked seizures, impaired vision with esotropia and nystagmus, progressive cerebral and cerebellar atrophy, skeletal abnormalities (including brachycephaly, scoliosis, slender long bones, delayed bone age, pectus excavatum and osteopenia), inverted nipples and dysmorphic features including high and narrow forehead, frontal bossing, short nose, depressed nasal bridge, anteverted nares, high palate and wide open mouth consistent with facial hypotonia. Other features may include cardiac abnormalities (such as patent ductus arteriosus, atrial septal defects), urogenital abnormalities (such as nephrocalcinosis, urolithiasis), and low plasma concentration of alkaline phosphatase. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the PIGT gene on chromosome 20q13.|SNOMEDCT_US|N|
C4749460|A rare partial autosomal monosomy characterised by global development delay, intellectual disability, behavioural abnormalities (hyperactivity, attention deficit and autistic behaviours), brachycephaly and variable facial dysmorphism. Other associated features may include vertebral fusions, mild contractures of knees and elbows, and feeding difficulties during infancy.|SNOMEDCT_US|N|
C4749462|An acute encephalopathy with inflammation-mediated status epilepticus characterised by an acute refractory status epilepticus, typically of the tonic-clonic type, following prodromal symptoms of confusion, fever, fatigue, headache, symptoms of gastrointestinal or upper respiratory tract infection, behavioural changes or hallucinations. Brain MRI abnormalities and abnormal findings in cerebrospinal fluid, including pleocytosis and/or elevated protein levels, are frequently found during acute episode. Treatment-resistant epilepsy, cognitive and psychiatric impairments are usual consequences.|SNOMEDCT_US|N|
C4749463|CMTDIF is an autosomal dominant neurologic disorder characterized by onset around adolescence of slowly progressive distal muscle atrophy and weakness affecting the upper and lower limbs and resulting in steppage gait. There is distal sensory impairment with decreased reflexes. Nerve conduction velocities are variable, ranging from the demyelinating to the axonal range (summary by Soong et al., 2013).
For a discussion of genetic heterogeneity of CMTDI, see 606482.|OMIM|N|
C4749464|A partial autosomal monosomy with clinical characteristics of lethal pulmonary disease that presents as severe respiratory distress and refractory pulmonary hypertension within a few hours after birth and typically results in death from respiratory failure within the first months of life. Characteristic histological features of lung tissue include paucity of alveolar wall capillaries, alveolar wall thickening, muscular hypertrophy of the pulmonary arteries, and malposition of the small pulmonary veins. Various additional congenital malformations may be associated, mostly gastrointestinal (intestinal malrotation and atresias, anular pancreas), genitourinary (dilatation of urinary tracts, duplicated uterus) and cardiovascular anomalies (hypoplastic left heart and other congenital heart defects).|SNOMEDCT_US|N|
C4749465|A rare primary osteolysis with characteristics of multiple small osteolytic areas and sclerosis in the phalanges of one or both hands associated with swelling and redness of the phalanges. Condition is benign, self-limited and may be associated with cold exposure.|SNOMEDCT_US|N|
C4749500|A rare primary immunodeficiency with characteristics of increased susceptibility to infection by human papillomavirus, presenting in childhood with disseminated flat wart-like cutaneous lesions. Burkitt lymphoma has also been reported. Whilst total T-cell counts are normal, there is impaired TCR signaling, profound peripheral naive T-cell lymphopenia with memory T-cells displaying an exhaustion phenotype.|SNOMEDCT_US|N|
C4749501|A rare non-dystrophic myopathy with characteristics of slowly progressive muscular weakness and atrophy initially involving proximal lower limbs and hip girdle and later on shoulder girdle, proximal upper limbs and axial muscles. Ambulation is usually preserved. Congophilic inclusions with cytoplasmic inclusions of 15-21 nm filaments on electron microscopy are revealed in muscle biopsy.|SNOMEDCT_US|N|
C4749502|A rare genetic skeletal muscle disease with characteristics of severe neonatal hypotonia with respiratory insufficiency, delay in motor milestones, and dysmorphic features including bitemporal narrowing, epicanthal folds and hypertelorism. Affected individuals show gradual improvement in hypotonia and muscle weakness within the first two years of life resulting in minimal clinical manifestations in adulthood.|SNOMEDCT_US|N|
C4749503|A rare genetic overgrowth or tall stature syndrome with skeletal involvement and characteristics of early and proportional overgrowth, osteopenia, lumbar scoliosis, arachnodactyly of the hands and feet, macrodactyly of the hallux, coxa valga with epiphyseal dysplasia of the femoral capital epiphyses and susceptibility to slipped capital femoral epiphysis. There is evidence the disease is caused by heterozygous mutation in the NPR2 gene on chromosome 9p13.|SNOMEDCT_US|N|
C4749506|A rare genetic distal myopathy disorder with characteristics of middle age-onset distal leg muscle weakness, atrophy in the anterior compartment resulting in foot drop without proximal or scapular skeletal muscle weakness. Rapidly progressive dementia, Paget disease of bone and hand weakness has been reported. Muscle biopsy shows pronounced myopathic changes with rimmed vacuoles.|SNOMEDCT_US|N|
C4749507|A rare partial autosomal trisomy characterised by global developmental delay, intellectual disability, autistic behaviour, muscular hypotonia, macrocephaly and facial dysmorphism (frontal bossing, short palpebral fissures, low set, dysplastic ears, short or shallow philtrum, high arched or narrow palate, micrognathia). Other associated clinical features include sleep disturbances, seizures, aplasia/hypoplasia of the corpus callosum, skeletal abnormalities (large hands and feet, long fingers and toes, talipes).|SNOMEDCT_US|N|
C4749508|A rare partial autosomal trisomy characterised by obesity, global developmental delay and intellectual disability, facial dysmorphism (synophrys, high-arched eyebrows, large posteriorly rotated ears, upturned nose, long smooth philtrum, overbite and high palate), large hands and limb hypotonia. Additional features include seizures and behavioural abnormalities.|SNOMEDCT_US|N|
C4749577|An inherited cancer-predisposing syndrome due to a gain-of-function germline mutation in the MITF (melanogenesis associated transcription factor) gene, associated with a higher incidence of amelanotic and nodular melanoma, multiple primary melanomas and increase in naevus number and size. It may also predispose to co-occurring melanoma and renal cell carcinoma and to pancreatic cancer.|SNOMEDCT_US|N|
C4749579|A rare genetic developmental defect during embryogenesis with characteristics of omphalocele associated with facial dysmorphism including flat face, short, upturned nose, long and wide philtrum and flattened maxillary arch and abnormalities of hands.|SNOMEDCT_US|N|
C4749580|A rare genetic syndromic intellectual disability disorder with characteristics of severe intellectual disability, progressive postnatal multiple joint contractures and severe motor dysfunction. Patients present arrest and regression of motor function and speech acquisition, as well as contractures, which begin in lower limbs and slowly progress in an ascending manner to include spine and neck, resulting in individuals presenting a specific fixed position.|SNOMEDCT_US|N|
C4749581|A rare partial autosomal monosomy with characteristics of language development delay with childhood apraxia of speech, mild intellectual disability, autistic spectrum disorder, attention deficit hyperactivity disorder, anxiety and mildly dysmorphic nonspecific features. Additional clinical features may include muscular hypotonia and joint laxity, hernia and microcephaly.|SNOMEDCT_US|N|
C4749582|A rare urogenital disease characterised by the appearance of flu-like symptoms (fever, extreme fatigue, myalgia, itchy burning eyes, nasal congestion/rhinorrhoea), as well as mood changes, irritability and concentration, memory and attention difficulties, within a few minutes to a few hours after ejaculation. Symptoms disappear spontaneously 3-7 days after onset.|SNOMEDCT_US|N|
C4749586|A rare gonosome anomaly syndrome characterised by a eunuchoid habitus with gynaecoid fat distribution and shape, normal to tall stature, moderate to severe intellectual disability, distinctive facial features (prominent forehead, epicanthic folds, broad nasal bridge, prognathism), gynaecomastia, hypogonadism, cryptorchidism, small penis and behavioural abnormalities (including solitary, passive disposition but prone to aggressive outbursts, autistic). Skeletal malformations, such as delayed bone age, fifth finger clinodactyly, elbow malformations and slow molar development may also be associated.|SNOMEDCT_US|N|
C4749611|A rare genetic odontologic disease with characteristics of the clinical, radiographic and histologic features of dentin dysplasia and osteosclerosis of all long bones, with heavy cortical bone and narrowed or occluded marrow spaces. There have been no further descriptions in the literature since 1977.|SNOMEDCT_US|N|
C4749612|A rare primary immunodeficiency disorder with characteristics of autosomal dominant inheritance, absolute neutrophil counts below 0.5x10E9/L in the peripheral blood (on three separate occasions over a six month period), granulopoiesis maturation arrest at the promyelocyte/myelocyte stage and early-onset severe recurrent bacterial infections.|SNOMEDCT_US|N|
C4749613|A rare primary bone dysplasia characterised by upper limbs rhizomelia and other skeletal anomalies (for example short stature, dislocated hips, digitalisation of the thumb with bifid distal phalanx), craniofacial features (for example microcephaly, large anterior fontanelle, fine and sparse scalp hair, depressed nasal bridge, high arched palate, micrognathia, short neck), congenital heart defects (for example pulmonary stenosis), delayed psychomotor development and mild flexion contractures of elbows. Radiologic evaluation may reveal flared epiphyses, platyspondyly and/or digital anomalies.|SNOMEDCT_US|N|
C4749647|A rare genetic malformation syndrome with short stature characterized by postnatal microcephaly, failure to thrive, global developmental delay and intellectual disability, hypotonia, dysmorphic features (short nose, depressed nasal bridge, low set ears, short neck, clinodactyly and cutaneous syndactyly of T2-3 at birth and broad forehead, midface retrusion, epicanthal folds, laterally sparse eyebrows, short nose, long philtrum, widely spaced teeth, micrognathia and coarsening of facial features later in life). Other associated features include postnatal transient generalized edema, myopia, strabismus, hypothyroidism.|SNOMEDCT_US|N|
C4749648|A rare haemorrhagic disorder due to a platelet anomaly characterised by dysfunctional platelets of abnormally large size, moderate thrombocytopenia, prolonged bleeding time and mild bleeding diathesis (ecchymoses and epistaxis), associated with mitral valve insufficiency.|SNOMEDCT_US|N|
C4749649|A rare neural tube closure defect characterised by an abnormally low lying conus which is tethered by a lumbosacral lipomatous mass (containing fatty tissue, nerve fibres, meningeal strands and fibrous bands) which engulfs the filum terminale and varying numbers of dorsal and ventral nerve root components, typically producing sensory, motor, bowel and/or bladder dysfunction. Cutaneous stigmata, absent or reduced reflexes and foot deformities (for example talipes cavovalgus) are frequently present.|SNOMEDCT_US|N|
C4749650|A rare genetic syndromic intellectual disability affecting males with characteristics of short stature, mild to moderate intellectual deficits, craniofacial dysmorphism (prominent broad ''square'' forehead, hypertelorism, depressed nasal bridge, broad nasal tip and anteverted nares) and early hypotonia present only until the age of 2. There have been no further descriptions in the literature since the original article in 1991 and it has been suggested that this condition represents an example of FG syndrome.|SNOMEDCT_US|N|
C4749652|Ovarian cancer caused by germline mutations in various genes, usually associated with additional cancer risks. The most common are breast and ovarian cancer syndrome (HBOC) due to mutations in BRCA1 and BRCA2 genes and hereditary nonpolyposis colorectal cancer (HNPCC) due to mutations in DNA mismatch-repair genes. Mutations in STK11 gene, causing Peutz-Jeghers syndrome, are also associated with a risk of ovarian cancer (typically sex cord stromal neoplasm). Mutations in other genes, including RAD51C, RAD51D, PALB2, confer an elevated ovarian cancer risk in a minority of patients.|SNOMEDCT_US|N|
C4749653|A rare slowly progressive genetic peripheral neuropathy with characteristics of distal atrophy and weakness affecting the upper limbs (with a predilection for the thenar eminence) and subsequently the lower limbs, associated with unilateral or bilateral vocal cord paresis leading to hoarse voice, breathing difficulties and facial weakness.|SNOMEDCT_US|N|
C4749694|A rare syndromic microphthalmia disorder with characteristics of microphthalmia with coloboma (which may involve the iris, ciliary body, choroid, retina and/or optic nerve), microcephaly, short stature and intellectual disability. Other eye abnormalities such as pendular nystagmus, esotropia and ptosis may also be present. Additional associated abnormalities include kyphoscoliosis, anteverted pinnae with minimal convolutions, diastema of the incisors and congenital pes varus.|SNOMEDCT_US|N|
C4749728|A rare infantile epilepsy syndrome characterized by seizures presenting with motion arrest and staring. They are followed by generalized tonic-clonic convulsions with normal interictal EEG and focal paroxysmal discharges, followed by generalization in ictal EEG. Seizures usually occur in clusters and are responsive to treatment. Psychomotor development is normal.|SNOMEDCT_US|N|
C4749729|A rare axonal hereditary motor and sensory neuropathy with characteristics of progressive axonal neuropathy with limb weakness and severe distal sensory loss in all limbs and acrodystrophic changes leading to painless non-healing ulcers, osteomyelitis, contractures and mutilating lesions with loss of terminal phalanges. One family with three affected siblings is described and there have been no further descriptions in the literature since 1999.|SNOMEDCT_US|N|
C4749730|A rare superficial pemphigus disease characterised by severe intractable pruritus with erythematous or urticarial plaques and vesicles organised in a herpetiform pattern. Mucosae are generally spared. Eosinophilia in peripheral blood and low titres of circulating autoantibodies are observed in many cases. Histologically, minimal or no apparent acantholysis is associated.|SNOMEDCT_US|N|
C4749731|A central nervous system malformation syndrome with characteristics of holoprosencephaly with microcephaly, abnormal eye morphology (hypotelorism, cyclopia, exophthalmos), nasal anomalies (single nostril or absent nose), and cleft lip/palate, combined with signs of caudal regression (sacral agenesis, sirenomelia with absent external genitalia).|SNOMEDCT_US|N|
C4749732|A rare non-syndromic central nervous system malformation defined by the agenesis of the olfactory bulbs and tracts and with characteristics of complete congenital anosmia.|SNOMEDCT_US|N|
C4749762|A rare genetic congenital limb malformation disorder with characteristics of hypoplasia or absence of central digital rays of the hands and/or feet and the presence of one or more, unilateral or bilateral, supernumerary digits on postaxial rays, ranging from hypoplastic digits devoid of osseous structures to complete duplication of a digit. Cutaneous syndactyly, symphalangism and clinodactyly have also been reported. There have been no further descriptions in the literature since 1982.|SNOMEDCT_US|N|
C4749763|A rare genetic malformation syndrome with characteristics of microcephaly, borderline intellectual disability, hyperpigmentation of the skin, short stature, and ventricular extrasystoles. Cardiac syncope may also be associated. There have been no further descriptions in the literature since 1975.|SNOMEDCT_US|N|
C4749768|A rare genetic congenital limb malformation syndrome with characteristics of short stature, sparse scalp hair, hypoplastic, proximally placed thumbs and skin hyperpigmentation with areas of ''raindrop'' depigmentation. Presence of a single, upper central incisor has also been reported. There have been no further descriptions in the literature since 1988.|SNOMEDCT_US|N|
C4749769|A rare genetic epidermal disease with characteristics of early childhood-onset of punctate palmoplantar keratoderma in association with adult-onset leucoencephalopathy manifested by progressive tetrapyramidal syndrome and cognitive deterioration.|SNOMEDCT_US|N|
C4749770|A dysostosis with predominant vertebral and costal involvement and characteristics of oropharyngeal atresia, mild mandibulofacial dysostosis, auricular malformations, and costovertebral anomalies (hemivertebrae, block vertebra, partial fusion of the ribs, absent ribs). There have been no further descriptions in the literature since 1989.|SNOMEDCT_US|N|
C4749790|A rare potentially sight-threatening acquired ocular disease characterized by corneal epithelium inflammation resulting from viral (mainly Herpes Simplex virus), bacterial, fungal or protist infection, manifesting with variable symptoms, such as conjunctival hyperemia, lacrimation, rapid onset of pain, blurred vision and/or photophobia, depending on the causative agent.|SNOMEDCT_US|N|
C4749791|A rare cerebellar malformation with characteristics of hypoplasia of both cerebellar hemispheres with no other cerebellar/cerebral anomaly or other associated clinical feature. Affected individuals present with mild hypotonia with motor delay, mild cognitive impairment, language delay, visuospatial and verbal memory deficits, dysdiadochokinesis, intentional tremor and possible emotional fragility and mild depression.|SNOMEDCT_US|N|
C4749792|A rare benign retinal vascular disease characterised by solitary or multiple, unilateral or bilateral, intra-retinal tumour(s), usually located in the peripheral infero-temporal quadrant, and often associated with sub and intraretinal exudates, epiretinal membranes, exudative retinal detachment and cystoid macular oedema, as well as, occasionally, retinal and vitreous haemorrhage. Patients may present with visual loss, floaters, and/or photopsia. Association with various conditions, such as retinitis pigmentosa, congenital retinal toxoplasmosis, retinopathy of prematurity or coloboma has been reported.|SNOMEDCT_US|N|
C4749793|A rare life-threatening non-inflammatory vasculopathy disorder characterized by diffuse precipitation of calcium in viscera (mainly in the heart or lungs, but also in the stomach or kidneys) leading to fibrosis and thrombosis, which eventually cause necrotic ulcerations of the tissue. Patients may present with dyspnea, cough and respiratory failure or acute heart block and subsequent sudden cardiac death, depending on the affected organ. The disease mainly affects patients on dialysis or patients having undergone renal transplantation.|SNOMEDCT_US|N|
C4749807|A rare genetic limb reduction defects syndrome with characteristics of bilateral radial aplasia/hypoplasia manifesting with absent/short forearms in association with anogenital abnormalities (for example hypospadias or imperforate anus). Additional features reported include hydrocephalus and absent preaxial digits. There have been no further descriptions in the literature since 1993.|SNOMEDCT_US|N|
C4749808|An extremely rare developmental defect during embryogenesis malformation syndrome with congenital muscular torticollis associated with skin anomalies (such as multiple keloids, pigmented naevi, epithelioma), urogenital malformations (including cryptorchidism and hypospadias) and renal dysplasia (for example chronic pyelonephritis, renal atrophy). Additional reported features include varicose veins, intellectual disability and musculoskeletal anomalies.|SNOMEDCT_US|N|
C4749821|A rare monogenic disease with characteristics of neonatal-onset encephalopathy, microcephaly, severe developmental delay or absent development, breathing abnormalities (including central hypoventilation and/or respiratory insufficiency), intractable seizures, abnormal muscle tone and involuntary movements. Early death is usual. Caused by mutations in the methyl-CpG binding protein 2 (MECP2) gene.|SNOMEDCT_US|N|
C4749822|Benign nocturnal alternating hemiplegia of childhood is a rare neurologic disease characterised by recurrent attacks of nocturnal screaming or crying followed or accompanied by unilateral or sometimes bilateral hemiplegia. Disorder is not associated with neurological or developmental impairments but may be associated with mild behavioural abnormalities.|SNOMEDCT_US|N|
C4749823|A rare genetic hereditary poikiloderma syndrome characterized by early-onset poikiloderma (mainly on the face), hypotrichosis, hypohidrosis, muscle and tendon contractures with varus foot deformity, progressive proximal and distal muscle weakness in all extremities and progressive pulmonary fibrosis. Mild lymphedema of the extremities, growth retardation, liver impairment, exocrine pancreatic insufficiency and hematologic abnormalities are additional variable features. There is evidence the disease is caused by heterozygous mutation in the FAM111B gene on chromosome 11q12.|SNOMEDCT_US|N|
C4749824|A rare axonal hereditary motor and sensory neuropathy with characteristics of infantile onset of slowly progressive distal motor weakness and atrophy (more severe in legs and moderate in arms) with mildly delayed motor development, hypotonia, and distal sensory impairment of all sensory modalities.|SNOMEDCT_US|N|
C4749825|A rare genetic non-acquired combined pituitary hormone deficiency disorder with characteristics of panhypopituitarism (with or without adrenocorticotropic hormone deficiency) associated with spine abnormalities, including frequent rigid cervical spine and short neck with limited rotation and variable degrees of sensorineural hearing loss. The anterior pituitary gland is usually abnormal (typically hypoplastic) and rarely a mild developmental delay or intellectual disability may be associated. There is evidence this disease is caused by homozygous mutation in the LHX3 gene on chromosome 9q34.|SNOMEDCT_US|N|
C4749826|A rare combined T and B cell immunodeficiency with a predisposition to lymphoproliferative syndrome. It is characterised by persistent symptomatic Epstein-Barr viraemia and hypogammaglobulinaemia variably presenting with fever, lymphadenopathy and systemic inflammatory conditions including hepatitis, pneumonia and sepsis. It may be associated with lymphoma, haemophagocytic lymphohistiocytosis, and aplastic anaemia.|SNOMEDCT_US|N|
C4749850|A rare immune dysregulation disease with immunodeficiency and characteristics of severe, progressive infantile onset inflammatory bowel disease with pancolitis, perianal disease (ulceration, fistulae), recurrent respiratory, genitourinary and cutaneous infections, arthritis and a high risk of B-cell lymphoma.|SNOMEDCT_US|N|
C4749852|A rare genetic ectodermal dysplasia syndrome with characteristics of sparse to absent scalp hair, eyebrows, and eyelashes (with pili torti when present), widely spaced, conical-shaped teeth with peg-shaped, conical crowns and enamel hypoplasia and palmoplantar hyperkeratosis, associated with partial cutaneous syndactyly in hands and feet. Caused by homozygous or compound heterozygous mutation in the PVRL4 gene (NECTIN4) on chromosome 1q23.|SNOMEDCT_US|N|
C4749853|A rare partial autosomal trisomy/tetrasomy with incomplete penetrance and variable expression. The syndrome has characteristics of macrocephaly, developmental delay, intellectual disability, psychiatric disturbances (autism spectrum disorder, attention deficit hyperactivity disorder, schizophrenia, mood disorders) and mild facial dysmorphism (high forehead, hypertelorism). Other associated features include congenital heart defects, hypotonia, short stature, scoliosis.|SNOMEDCT_US|N|
C4749854|A rare partial autosomal monosomy with a variable phenotypic expression and reduced penetrance associated with an increased susceptibility to neuropsychiatric or neurodevelopmental disorders including delayed psychomotor development, speech delay, autism spectrum disorder, attention deficit-hyperactivity disorder, obsessive-compulsive disorder, epilepsy or seizures. It may also include mild non-specific dysmorphic features (such as dysplastic ears, broad forehead, hypertelorism), cleft palate, neurological and neuroimaging abnormalities (such as ataxia and muscular hypotonia).|SNOMEDCT_US|N|
C4749855|A rare chromosomal anomaly characterised by developmental delay, mild to severe intellectual disability with speech impairment and epilepsy. Additionally, it may include dysmorphic features (such as hypo or hypertelorism, dysplastic ears, short palpebral fissures), microcephaly or macrocephaly, behavioural abnormalities, stereotyped hand movements, ataxia, hypotonia, cleft palate.|SNOMEDCT_US|N|
C4749856|A rare genetic retinal dystrophy disorder with characteristics of bilateral microcornea, rod-cone dystrophy, cataracts and posterior staphyloma, in the absence of other systemic features. Night blindness is typically the presenting manifestation and nystagmus, strabismus, astigmatism and angle closure glaucoma may be associated findings. Progressive visual acuity deterioration, due to pulverulent-like cataracts, results in poor vision ranging from no light perception to 20/400. There is evidence the disease is caused by heterozygous mutation in the bestrophin-1 gene (BEST1) on chromosome 11q12.|SNOMEDCT_US|N|
C4749904|A rare genetic overgrowth syndrome with characteristics of non-progressive, asymmetrical, moderate hemihyperplasia (frequently affecting the limbs) associated with slow growing, painless, multiple, recurrent, subcutaneous lipomatous masses distributed throughout entire body (in particular back, torso, extremities, fingers, axillae). Superficial vascular malformations may also be associated. Increased risk of intra-abdominal embryonal malignancies may be associated.|SNOMEDCT_US|N|
C4749905|A rare metabolite absorption and transport disorder with characteristics of moderate increase of methylmalonic acid (MMA) in the blood and urine due to decreased cellular uptake of cobalamin resulting from decreased transcobalamin receptor function. Patients are usually asymptomatic however; screening reveals increased C3-acylcarnitine and MMA in plasma. Serum homocysteine levels may vary from normal to moderately elevated and retinal vascular occlusive disease, resulting in severe visual loss, has been reported. Caused by mutation in the gene encoding the transcobalamin receptor (CD320).|SNOMEDCT_US|N|
C4749906|A rare pancreatobiliary disease characterised by marked duct-centred lymphoid follicular inflammation that develops in both biliary and pancreatic ductal systems, mainly affecting the hilar bile ducts and the pancreatic head. Patients present with jaundice, abdominal pain, liver dysfunction, pruritus and/or weight loss. Histology shows lymphoplasmacytic infiltration with formation of numerous, large lymphoid follicles around the affected bile and pancreatic ducts.|SNOMEDCT_US|N|
C4749908|A rare disorder of branched-chain amino acid metabolism with characteristics of childhood-onset epilepsy, autism and intellectual disability with reduced levels of plasma branched chain aminoacids. Caused by homozygous mutation in the BCKDK gene on chromosome 16p11.|SNOMEDCT_US|N|
C4749914|Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome (ROSAH) is an autosomal dominant disorder in which affected individuals present in childhood with reduced vision associated with papilledema and low-grade ocular inflammation. Progressive deterioration of visual acuity results in counting fingers to no light perception by the third decade of life. Patients also show anhidrosis, as well as splenomegaly and mild pancytopenia, and most experience headaches that may be migraine-like in nature (Williams et al., 2019).|OMIM|N|
C4749915|A rare genetic syndromic intellectual disability characterized by mild to severe global developmental delay, intellectual disability and behavioral abnormalities, hypotonia, strabismus, optic nerve hypoplasia and mild facial dysmorphic features (down slanting palpebral fissures, frontal bossing, crowded teeth, auricular abnormalities and prominent philtral ridges). Other associated clinical features may include seizures and skeletal anomalies (kyphosis/scoliosis, pectus deformities).|SNOMEDCT_US|N|
C4749916|A rare genetic neurocutaneous syndrome with characteristics of the presence of randomly distributed, small, white to yellowish, multiple, rounded or irregular poly cyclically-shaped, epidermal keratotic papules and plaques of gem-like appearance with a rough surface, typically located on the trunk and proximal limbs. Associated with variable neurological abnormalities, including psychomotor delay, epilepsy, speech and language impairment and attention deficit-hyperactivity disorder. Clumsiness, dyslexia and ophthalmological abnormalities have also been reported.|SNOMEDCT_US|N|
C4749917|APC-associated polyposis conditions include (classic or attenuated) familial adenomatous polyposis (FAP) and gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS). FAP is a colorectal cancer (CRC) predisposition syndrome that can manifest in either classic or attenuated form. Classic FAP is characterized by hundreds to thousands of adenomatous colonic polyps, beginning on average at age 16 years (range 7-36 years). For those with the classic form of FAP, 95% of individuals have polyps by age 35 years; CRC is inevitable without colectomy. The mean age of CRC diagnosis in untreated individuals is 39 years (range 34-43 years). The attenuated form is characterized by multiple colonic polyps (average of 30), more proximally located polyps, and a diagnosis of CRC at a later age than in classic FAP. For those with an attenuated form, there is a 70% lifetime risk of CRC and the mean age of diagnosis is 50-55 years. Extracolonic manifestations are variably present and include polyps of the stomach and duodenum, osteomas, dental abnormalities, congenital hypertrophy of the retinal pigment epithelium (CHRPE), benign cutaneous lesions, desmoid tumors, adrenal masses, and other associated cancers. GAPPS is characterized by proximal gastric polyposis, increased risk of gastric adenocarcinoma, and no duodenal or colonic involvement in most individuals reported.|GeneReviews|N|
C4749918|HMNR5 is an autosomal recessive neurologic disorder characterized by young adult onset of slowly progressive distal muscle weakness and atrophy resulting in gait impairment and loss of reflexes due to impaired function of motor nerves. Sensation and cognition are not impaired (summary by Blumen et al., 2012).
For a discussion of genetic heterogeneity of autosomal recessive HMN, see HMNR1 (604320).|OMIM|N|
C4749919|A rare neurologic disease characterised by global developmental delay, intellectual disability, multiple ischaemic lesions on brain MRI, behavioural abnormalities, dystonia, choreic movements and pyramidal syndrome, facial dysmorphism (hypertelorism, arched palate, macroglossia), retinitis pigmentosa, scoliosis, seizures.|SNOMEDCT_US|N|
C4749920|A rare partial autosomal trisomy/tetrasomy characterised by facial dysmorphism (long thin face, prominent forehead, down-slanting palpebral fissures, prominent nose with broad nasal bridge, prominent chin), pre and postnatal overgrowth, renal anomalies (for example horseshoe kidney, renal agenesis, hydronephrosis), mild to severe learning difficulties and behavioural abnormalities. Additional features may include craniosynostosis and macrocephaly.|SNOMEDCT_US|N|
C4749921|Combined oxidative phosphorylation deficiency-10 (COXPD10) is an autosomal recessive disorder resulting in variable defects of mitochondrial oxidative respiration. Affected individuals present in infancy with hypertrophic cardiomyopathy and lactic acidosis. The severity is variable, but can be fatal in the most severe cases (summary by Ghezzi et al., 2012).
For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060).|OMIM|N|
C4749941|An infant born after 32 completed weeks of gestation and before 37 completed weeks of gestation.|SNOMEDCT_US|N|
C4749942|A mitochondrial oxidative phosphorylation disorder characterised by hypertrophic and dilated cardiomyopathy, failure to thrive, myopathy with generalised hypotonia and increased creatine kinase, developmental delay and/or regression with cerebral atrophy on brain MRI, renal manifestations including chronic renal failure, renal tubular acidosis and lactic acidosis. Additional clinical features include seizures and respiratory failure.|SNOMEDCT_US|N|
C4749944|A rare genetic syndrome with limb reduction defects with characteristics of thrombocytosis, unilateral transverse limb defects (ranging from absence of phalanges to absence of hand or forearm) and splenomegaly.|SNOMEDCT_US|N|
C4749947|A genetic neurodegenerative disease with normal early development followed by childhood onset optic atrophy with progressive vision loss and eventually blindness, followed by progressive neurological decline that typically includes cerebellar ataxia, nystagmus, dorsal column dysfunction (decreased vibration and position sense), spastic paraplegia and finally tetraparesis. There is evidence this disease is caused by homozygous or compound heterozygous mutation in the UCHL1 gene on chromosome 4p13.|SNOMEDCT_US|N|
C4749948|A rare genetic disease with characteristics of facial dysmorphism with malar hypoplasia and high forehead, immunodeficiency resulting in recurrent infections, impaired growth (with normal growth hormone production and response) resulting in short stature, and livedo affecting face and extremities. Immunological analyses show low memory B-cell and naive T cell counts, decreased T cell proliferation, and reduced IgM, IgG2 and IgG4. Patients do not exhibit increased susceptibility to cancer. There is evidence the disease is caused by homozygous mutation in the POLE gene on chromosome 12q24.|SNOMEDCT_US|N|
C4749956|Swelling, erythema, tenderness at the procedure insertion site or along needle track.|SNOMEDCT_US|N|
C4750318|A benign inflammatory colitis caused by a non-IgE-mediated immune reaction to ingested food proteins.|MONDO|N|
C4750414|RAB18 deficiency causes two disorders with similar signs and symptoms; Warburg micro syndrome and Martsolf syndrome. Both of these diseases are considered to be part of the same disease spectrum because of similar features and shared genetic cause. Manifestations include eye problems from birth including cataracts, microphthalmia and microcornea, intellectual disability, delayed development hypotonia, spasticity and joint contractures. Martsolf syndrome affects the same body systems as Warburg micro syndrome but is usually less severe. RAB18 deficiency is caused by mutations in the RAB3GAP1, RAB3GAP2, RAB18, or TBC1D20 gene.|SNOMEDCT_US|N|
C4750718|Developmental and epileptic encephalopathy-2 (DEE2) is an X-linked dominant severe neurologic disorder characterized by onset of seizures in the first months of life and severe global developmental delay resulting in impaired intellectual development and poor motor control. Other features include lack of speech development, subtle dysmorphic facial features, sleep disturbances, gastrointestinal problems, and stereotypic hand movements. There is some phenotypic overlap with Rett syndrome (312750), but DEE2 is considered to be a distinct entity (summary by Fehr et al., 2013).
For a discussion of genetic heterogeneity of DEE, see 308350.|OMIM|N|
C4750743|A rare hereditary syndromic intellectual disability with characteristics of craniofacial and skeletal abnormalities in association with mild intellectual disability in females and early postnatal lethality in males. In addition to mild cognitive impairment, females present with microcephaly, short stature, skeletal features and extra temporal lobe gyrus. In males, intrauterine growth impairment, cardiac and urogenital anomalies have been reported.|SNOMEDCT_US|N|
C4750744|A rare acquired non-paraneoplastic limbic encephalitis disorder, that develops in the setting of treatment-related immunosuppression, typically after allogeneic haemapoietic stem cell transplantation. Characterised by onset of confusion, headache, anterograde amnesia, seizures and/or loss of consciousness 2-6 weeks following transplantation. Bilateral, non-enhancing T2 hyperintensities in limbic structures are observed on magnetic resonance imaging. Mild cerebrospinal fluid pleocytosis and syndrome of inappropriate antidiuretic hormone secretion may also be associated.|SNOMEDCT_US|N|
C4750750|A rare genetic developmental defect during embryogenesis syndrome with characteristics of postaxial polydactyly and other abnormalities of the hands and feet (for example brachydactyly, broad toes), hypoplasia and fusion of the vertebral bodies, as well as dental abnormalities (fused teeth, macrodontia, hypodontia, short roots). There have been no further descriptions in the literature since 1977.|SNOMEDCT_US|N|
C4750751|A rare genetic renal or urinary tract malformation syndrome with characteristics of nephrotic syndrome with focal segmental sclerosis associated with hydrocephalus, thin skin and blue sclerae. There have been no further descriptions in the literature since 1978.|SNOMEDCT_US|N|
C4750752|An extremely rare uterine neoplasm with characteristics of a usually polypoid, friable neoplasm deriving from primordial germ cells located in the uterine cervix. Presentation is non-specific and often includes abnormal vaginal bleeding and/or discharge, a cervical mass protruding from the vagina, abdominal and/or pelvic pain or, less commonly, difficulty passing stool and perianal pain. Various histological subtypes (including dysgerminoma, yolk sac neoplasm, choriocarcinoma and malignant teratoma) are reported.|SNOMEDCT_US|N|
C4750753|An extremely rare uterine neoplasm with characteristics of a typically polypoid mass deriving from primordial germ cells in the endometrium. Presentation is non-specific and often includes abnormal vaginal bleeding and/or discharge, a mass protruding from the vagina, abdominal and/or pelvic pain or, less commonly, difficulty passing stool and perianal pain. The malignant teratoma and yolk sac histological subtypes are the most common.|SNOMEDCT_US|N|
C4750769|A uniparental disomy of maternal origin which may be associated with intrauterine growth retardation and an elevated risk of congenital malformations. Healthy carriers have also been reported. In addition, cases of homozygosity for a recessive disease mutation for which the mother was a carrier have been described and specific phenotype depends on the inherited disorder.|SNOMEDCT_US|N|
C4750771|A rare primary bone dysplasia disorder characterized by the association of dental anomalies (oligodontia with pointed incisors) and generalized platyspondyly with epiphyseal and metaphyseal involvement. Thin tapering fingers and accentuated palmar creases are additional features.|SNOMEDCT_US|N|
C4750772|A rare genetic central nervous system malformation syndrome with characteristics of marked prenatal-onset microcephaly, severe motor delay with hypotonia, bilateral polymicrogyria, corpus callosum agenesis, ventricular dilation, small cerebellum and early lethality.|SNOMEDCT_US|N|
C4750773|A rare genetic lethal non-dystrophic congenital myopathy disorder characterized, antenatally, by fetal akinesia, intrauterine growth restriction and polyhydramnios, and, following birth, by severe neonatal hypotonia, severe generalized skeletal, bulbar and respiratory muscle weakness, multiple flexion contractures, and normal creatine kinase serum levels. Ultrastructurally, loss of integrin alpha7, beta2-syntrophin and alpha-dystrobrevin from the muscle sarcolemma and disruption of sarcomeres with disorganization of the Z band are observed. There is evidence this disease is caused by homozygous mutation in the CNTN1 gene on chromosome 12q12.|SNOMEDCT_US|N|
C4750774|A subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease with characteristics of severe, early childhood-onset Charcot-Marie-Tooth neuropathy with prominent pes equinovarus deformity and impairment of hand muscles. Nerve conduction velocities usually range between 25-35 m/s and both axonal and demyelinating changes are observed on peripheral nerve pathology. Caused by homozygous mutation in the GDAP1 gene on chromosome 8q21.|SNOMEDCT_US|N|
C4750782|A rare chromosomal anomaly with characteristics of a predominantly neuropsychiatric phenotype with a few dysmorphic features. Speech delay, learning difficulties, attention deficit hyperactivity disorder, bipolar disorder and aggressiveness have been reported.|SNOMEDCT_US|N|
C4750783|A rare chromosomal anomaly with characteristics of speech and language disorder, predominantly presenting as an apraxia of speech, sometimes associated with oral motor dyspraxia, dysarthria, receptive and expressive language disorder, and hearing loss. Individuals with larger deletions in this region have also been reported to display intellectual disability and autism.|SNOMEDCT_US|N|
C4750785|A rare granulomatous autoinflammatory disease with characteristics of infantile-onset, widespread, chronic, recurrent, progressive, lobular panniculitis associated with panuveitis, arthritis and severe systemic granulomatous inflammation.|SNOMEDCT_US|N|
C4750786|An extremely rare subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterised by a CMT neuropathy associated with developmental delay, self-abusive behaviour, dysmorphic features and vestibular Schwannoma. Motor nerve conduction velocities demonstrate features of both demyelinating and axonal pathology.|SNOMEDCT_US|N|
C4750787|A rare genetic multisystemic chronic autoimmune disease characterised by the presence of systemic lupus erythematosus symptoms in two or more members of a single family. Patients present a wide spectrum of clinical manifestations, including cutaneous (malar rash, photosensitivity), ocular (keratoconjunctivitis sicca, retinopathy), gastrointestinal (oral ulceration, abdominal pain), cardiac (atherosclerosis, chest pain), pulmonary (serositis, pleurisy), musculoskeletal (arthralgia, myalgia), renal (nephritis, haematuria), obstetrical (increased spontaneous abortions, neonatal lupus), constitutional (fatigue, loss of appetite) and neuropsychiatric (mood and cognitive disorders) involvement, amongst others.|SNOMEDCT_US|N|
C4750788|A rare genetic odontologic disease with characteristics of the congenital absence of six or more permanent teeth (excluding the third molars) in association with an increased risk for malignancies, ranging from gastrointestinal polyposis to early-onset colorectal cancer and/or breast cancer. Ectodermal dysplasia (manifesting with sparse hair and/or eyebrows) may also be associated.|SNOMEDCT_US|N|
C4750789|A rare chromosomal anomaly with characteristics of developmental delay, mild to moderate intellectual disability, epilepsy, and unspecific dysmorphic signs. High palate, delayed permanent tooth eruption, hypoplastic fingernails, clinodactyly and short fingers have also been reported.|SNOMEDCT_US|N|
C4750834|A rare gastroesophageal disease characterized by diffusely enlarged gastric folds, excessive mucus secretion, normal serum protein and gastric TGF-alpha levels. Patients typically present anemia, abdominal pain not related to eating or bowel habits and absence of peripheral edema.|SNOMEDCT_US|N|
C4750835|A rare genetic mitochondrial myopathy disorder with characteristics of congenital cataract, progressive muscular hypotonia that particularly affects the lower limbs, reduced deep tendon reflexes, sensorineural hearing loss, global development delay and lactic acidosis. Muscle biopsy reveals reduced complex I, II and IV respiratory chain activity. Can be caused by mutations in the GFER gene.|SNOMEDCT_US|N|
C4750837|ASXL3-related disorder is characterized by developmental delay or intellectual disability, typically in the moderate to severe range, with speech and language delay and/or absent speech. Affected individuals may also display autistic features. There may be issues with feeding. While dysmorphic facial features have been described, they are typically nonspecific. Affected individuals may also have hypotonia that can transition to spasticity resulting in unusual posture with flexion contractions of the elbows, wrists, and fingers. Other findings may include poor postnatal growth, strabismus, seizures, sleep disturbance, and dental anomalies.|GeneReviews|N|
C4750838|Neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies (NEDBGF) is an autosomal recessive disorder characterized by global developmental delay with delayed walking, impaired intellectual development, and speech delay apparent from infancy or early childhood. Most patients have dysmorphic facial features, often with microcephaly and strabismus, and white matter abnormalities on brain imaging. More variable features may include teeth anomalies, distal joint contractures, spasticity, peripheral neuropathy, and behavioral problems (summary by Sharkia et al., 2019).|OMIM|N|
C4750839|A rare genetic premature aging disease characterized by sensorineural deafness, generalized lack of subcutaneous fatty tissue (although with increased truncal deposition) noted from childhood, scleroderma, and facial dysmorphism which includes prominent eyes, a beaked nose, small mouth, crowded teeth and mandibular hypoplasia. Other associated features include growth delay, joint contractures, telangiectasia, hypogonadism (with lack of breast development in females), cryptorchidism, skeletal muscle atrophy, and hypertriglyceridemia and diabetes mellitus/insulin resistance. Caused by heterozygous mutation in the POLD1 gene on chromosome 19q13.|SNOMEDCT_US|N|
C4750846|A rare subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease with characteristics of childhood to adulthood-onset of progressive, moderate to severe, predominantly distal, mostly lower limb muscle weakness and atrophy, foot deformities (including pes cavus and hammer toes), absent deep tendon reflexes and distal sensory loss associated with decreased motor and sensory nerve conduction velocities and features of both demyelinating and axonal neuropathy on sural nerve biopsy. Caused by homozygous or compound heterozygous mutation in the PLEKHG5 gene on chromosome 1p36.|SNOMEDCT_US|N|
C4750848|A rare syndromic intellectual disability disorder with characteristics of moderate intellectual disability, variable hand abnormalities (including brachydactyly, cutaneous and osseous syndactyly) and facial dysmorphism that includes short palpebral fissures, bulbous nasal tip, thin upper and lower vermilion and broad, pointed chin. Other features, including obesity, microcephaly, short stature and a grimacing smile may be observed.|SNOMEDCT_US|N|
C4750849|A rare congenital disorder of glycosylation with characteristics of moderate intellectual disability, short stature, mild skeletal changes and distinctive facial features with coarse face, synophrys and deep nasolabial ridges. Skeletal features include broad ribs, stocky long bones, and short femoral necks with coxa valga, clinodactyly and broad thumbs.|SNOMEDCT_US|N|
C4750851|A rare genetic syndromic intellectual disability disorder characterised by severe intellectual disability with limited or absent speech and language, short stature, acquired microcephaly, kyphoscoliosis or scoliosis, and behavioural disturbances that include hyperactivity, stereotypy and aggressiveness. Facial dysmorphism typically includes sloping forehead, mild synophrys, deep-set eyes, strabismus, anteverted large ears, prominent nose and dental malposition. Caused by homozygous mutation in the TTI2 gene on chromosome 8p12.|SNOMEDCT_US|N|
C4750853|A rare monogenic disease with infantile-onset pharmacoresistant focal seizures of mesial temporal lobe onset manifesting with unresponsiveness, hypertonia and automatisms and cognitive regression soon after seizure onset leading to severe intellectual disability with behavioral abnormalities.|SNOMEDCT_US|N|
C4750855|A rare hereditary mitochondrial oxidative phosphorylation disorder characterised by severe neonatal lactic acidosis and deficiency of mitochondrial complexes I, II and III. Clinical features are variable and may include hypotonia, respiratory distress with cyanosis, failure to thrive, feeding difficulties, hypoglycaemia, dehydration, vomiting, seizures, and a risk of multiple organ failure.|SNOMEDCT_US|N|
C4750857|A very rare complex hereditary spastic paraplegia with characteristics of early onset of progressive lower limb spasticity, tip-toe walking, scissor gait, hyperreflexia and clonus that may be associated with borderline intellectual disability. Nystagmus and pes equinovarus have also been reported.|SNOMEDCT_US|N|
C4750858|A rare genetic premature aging syndrome characterized by adulthood-onset cutaneous manifestations that result in a prematurely aged appearance (such as premature thinning and graying of scalp hair, loss of subcutaneous fat, tightening of skin) associated with prominent cardiovascular manifestations, such as accelerated atherosclerosis, calcific valve disease, and cardiomyopathy. Patients present loss of eyebrows and eyelashes in childhood and have a predisposition to develop malignancies.|SNOMEDCT_US|N|
C4750907|A rare hereditary hemolytic anemia due to a red cell membrane anomaly characterized by fatigue, mild anemia and pseudohyperkalemia due to a potassium leak from the red blood cells. A hallmark of this condition is that red blood cells lyse on storage at 4 degrees centigrade. There is evidence this disease is caused by heterozygous mutation in the SLC4A1 gene on chromosome 17q21.|SNOMEDCT_US|N|
C4750910|A rare genetic syndromic intellectual disability characterized by mild intellectual disability, short stature with high body mass index, short neck with cervical gibbus and dysmorphic facial features. A metabolic syndrome, including type 2 diabetes, hypercholesterolemia and hypertension has also been reported.|SNOMEDCT_US|N|
C4750911|A rare genetic syndromic intellectual disability with characteristics of mild intellectual disability, delayed speech development, congenital heart defects, brachydactyly and dysmorphic facial features.|SNOMEDCT_US|N|
C4750913|A rare hereditary cerebral malformation with epilepsy syndrome with characteristics of severe global developmental delay with no ability to walk and no verbal language, intractable epilepsy, partial agenesis of the corpus callosum and cerebellar vermis hypoplasia with posterior fossa cysts.|SNOMEDCT_US|N|
C4750914|Autosomal recessive spinocerebellar ataxia-23 is a neurologic disorder characterized by epilepsy, intellectual disability, and gait ataxia (summary by Gomez-Herreros et al., 2014).|OMIM|N|
C4750917|A rare hereditary basal epidermolysis bullosa simplex characterised by mild, predominantly acral, trauma-induced skin fragility, resulting in blisters. Blisters mostly affect the feet, including the dorsal side, and are often several centimetres big. There is evidence the disease is caused by homozygous mutation in the DST (BPAG1) gene on chromosome 6p12.|SNOMEDCT_US|N|
C4750918|A rare hereditary basal epidermolysis bullosa simplex characterized by mild, generalized trauma-induced scale crusts and intermittent blistering, sometimes combined with erosions and bleeding, recovering with slight scarring and post-inflammatory hyperpigmentation. Clinical symptoms improve with age. There is evidence the disease can be caused by homozygous mutation in the EXPH5 gene on chromosome 11q22.|SNOMEDCT_US|N|
C4750951|A rare chromosomal anomaly with characteristics of moderate intellectual disability, speech delay, postnatal microcephaly, eczema or atopic dermatitis, characteristic facial features (malar flattening, prominent nose, underdeveloped alae nasi, smooth philtrum, and thin vermillion of the upper lip) and reduced sensitivity to pain.|SNOMEDCT_US|N|
C4750952|A rare syndromic intellectual disability syndrome with characteristics of cortical blindness, different types of seizures, intellectual disability with limited or absent speech and dysmorphic facial features. Brain imaging typically shows mild pontine hypoplasia, hypoplasia of the corpus callosum and atrophy in the occipital region. There is evidence the disease is caused by compound heterozygous mutation in the DOCK7 gene on chromosome 1p31.|SNOMEDCT_US|N|
C4750953|A rare genetic disorder of metabolite absorption or transport with characteristics of persistently decreased riboflavin serum levels due to a primary genetic defect in the mother and which leads to clinical and biochemical findings consistent with a secondary, life-threatening, transient multiple acyl-CoA dehydrogenase deficiency (MADD) in the newborn. The mother usually presents hyperemesis gravidarum in the absence of other features of riboflavin deficiency, such as skin lesions, jaundice, pruritus, sore mucous membranes, visual disturbances.|SNOMEDCT_US|N|
C4750954|A rare genetic syndromic intellectual disability disorder with characteristics of global development delay with very limited or absent speech and language, severe intellectual disability, long slender fingers, ocular abnormalities (typically strabismus or hypermetropia) and facial dysmorphism that includes a grimacing facial expression, a tubular-shaped nose with a prominent, broad base and tip and other variable features, such as broad forehead, hypertelorism, deep-set eyes, narrow palpebral fissures, short philtrum and/or broad mouth. Caused by heterozygous mutation in the GATAD2B gene on chromosome 1q21.|SNOMEDCT_US|N|
C4750955|A rare genetic syndromic intellectual disability disorder characterised by borderline to severe intellectual disability, global development delay, feeding difficulties, microcephaly, short stature and mild facial dysmorphism, including thick eyebrows, long eyelashes, prominent incisors and/or thin upper lip. Other associated features may include hypermetropia with or without esotropia, behavioural anomalies (for example autistic behaviour, sleeping disturbances), urogenital abnormalities (for example cryptorchidism, inguinal hernia), single palmar crease, fifth-finger clinodactyly and cardiac defects. There is evidence the disease is caused by heterozygous mutation in the CTCF gene on chromosome 16q22.|SNOMEDCT_US|N|
C4750957|A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of mild to severe global development delay, severe intellectual disability, mild hypotonia, a short ulna, hirsutism of the face and extremities, minimal scoliosis, and facial dysmorphism, notably a tall broad forehead, synophrys, hypertelorism, malar hypoplasia, broad nose with thick alae nasi, low-set, small ears, long philtrum, thin upper lip and everted lower lip vermilion.|SNOMEDCT_US|N|
C4750958|A rare developmental defect during embryogenesis disorder with characteristics of macroblepharon, ectropion, and facial dysmorphism, which includes severe hypertelorism, downslanting palpebral fissures, posteriorly rotated ears, broad nasal bridge, long and smooth philtrum, and macrostomia with thin upper lip vermilion border. Other features may include large fontanelles, prominent metopic ridge, thick eyebrows, mild synophrys, and increased density of upper eyelashes, anteverted nares, abnormal dentition and capillary hemangioma.|SNOMEDCT_US|N|
C4751001|A rare genetic corneal dystrophy disorder with characteristics of corneal opacification and dyskeratosis (which may cause visual impairment), associated with systemic features including palmoplantar hyperkeratosis, laryngeal dyskeratosis, pruritic hyperkeratotic scars, chronic rhinitis, dyshidrosis and/or nail thickening.|SNOMEDCT_US|N|
C4751003|A rare genetic intestinal disease characterized by early-onset chronic non-infectious, non-bloody, watery diarrhea associated with protein-losing enteropathy, which results in hypoalbuminemia, hypogammaglobulinemia and elevated stool alpha-1-antitrypsin. Patients typically present severe, intractable diarrhea, failure to thrive, recurrent infections and edema. There is evidence the disease is caused by homozygous mutation in the DGAT1 gene.|SNOMEDCT_US|N|
C4751006|A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of moderate to severe intellectual disability, congenital aphonia, hearing loss, optic atrophy, retinal dystrophy, broad thumbs and duplicated halluces. Facial dysmorphism (including thick eyebrows, ptosis, long, downslanting palpebral fissures, microstomia, low-set, posteriorly rotated ears) and genital abnormalities are also associated.|SNOMEDCT_US|N|
C4751007|A rare genetic disease with characteristics of symmetrical muscular hypertrophy, hepatomegaly, polyhydramnios, macrocephaly and mild delay in motor, speech and language development.|SNOMEDCT_US|N|
C4751008|A rare X-linked syndromic intellectual disability disorder with characteristics of profound intellectual disability, global developmental delay with absent speech, seizures, large joint contractures, abnormal position of thumbs and middle-age onset of cardiomegaly and atrioventricular valve abnormalities, resulting in subsequent congestive heart failure. Additional features include variable facial dysmorphism (notably large ears with over folded helix) and large testes. There is evidence the disease is caused by mutation in the CLIC2 gene on chromosome Xq28.|SNOMEDCT_US|N|
C4751073|A rare multiple congenital anomalies/dysmorphic syndrome with characteristics of craniofacial dysmorphism (brachycephaly resulting from craniosynostosis, frontal bossing, downslanting palpebral fissures, large and low-set ears, depressed nasal bridge, high-arched, wide palate, thin upper lip), impaired neurological development with intellectual disability, hypotonia, pyloric stenosis, pectus excavatum, bilateral cryptorchidism and short stature.|SNOMEDCT_US|N|
C4751074|A rare developmental defect during embryogenesis with characteristics of ventral, unilateral or bilateral protrusion of extraperitoneal fat, peritoneum and/or intra-abdominal organs through a defect in the spigelian fascia (spigelian hernia), associated with ipsilateral or bilateral undescended testis (usually found within or just beneath the hernial sac) in male neonates. The gubernaculum and/or inguinal canal may be absent.|SNOMEDCT_US|N|
C4751075|An extremely rare multiple congenital anomalies/dysmorphic syndrome with characteristics of micrognathia, short webbed neck, hypoplastic nipples and joint contractures (which improve over time) of the knees and elbows. In addition, sloping shoulders, mild to moderate hearing loss, mild speech impairment and facies with hypertelorism, short philtrum and tented upper lip may be associated.|SNOMEDCT_US|N|
C4751076|A rare genetic central nervous system malformation syndrome characterised by bilateral congenital cataracts and severe haemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalised spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.|SNOMEDCT_US|N|
C4751077|A rare genetic orofacial clefting malformation syndrome with characteristics of severe frontonasal dysplasia with complete cleft palate, facial cleft, extreme microphthalmia and hypertelorism. Frequently associated with eyelid colobomata, sparse or absent eyelashes/eyebrows, wide nasal bridge with hypoplastic alae nasi, low-set, posteriorly rotated ears and caudal appendage in the sacral region. There is evidence the disease is caused by homozygous mutation in the ALX1 gene on chromosome 12q21.|SNOMEDCT_US|N|
C4751078|A rare benign nail tumour originating in the nail matrix characterised by localised or diffuse thickening of the nail plate, increased transverse or longitudinal overcurvature, a yellow longitudinal band of variable width, swelling of the proximal nail fold, multiple splinter haemorrhages and the presence of honeycomb-like cavities in the distal margin of the nail plate. Nail dystrophy and dorsal pterygium may be associated. Occasionally a pigmented lesion has been reported.|SNOMEDCT_US|N|
C4751108|A rare benign nail tumor originating in the nail matrix characterized by localized pachyonychia and variable degrees of pigmentation: pigmented, melanocytic (common, longitudinal melanonychia that may simulate a foreign body) or hypopigmented. Histopathology demonstrates a purely epithelial tumor with endo-keratinization in the deep portion and concentrically arranged nests of pre-keratogenous and keratogenous cells.|SNOMEDCT_US|N|
C4751109|A rare benign peripheral nerve sheath tumor disorder characterized by multiple painful mucin-rich plexiform neurofibromas located in the orbits, cranium, large spinal nerves and mucosa. Also associated with a marfanoid habitus, enlarged corneal nerves, congenital neuronal migration anomalies and facial dysmorphism which includes ptosis, proptosis, prominent nose, full lips, gingival hyperplasia and multiple subcutaneous and submucosal nodules in the lips and sublingual zone.|SNOMEDCT_US|N|
C4751110|A rare genetic lethal neurometabolic malformation syndrome with characteristics of multiple variable congenital cardiac (systolic murmur, atrial septal defect), urinary (duplicated collecting system, vesicoureteral reflux) and central nervous system (thin corpus callosum, cerebellar hypoplasia) malformations associated with neonatal hypotonia, early-onset epileptic encephalopathy and myoclonic seizures. Craniofacial dysmorphism (prominent occiput, enlarged fontanelle, fused metopic suture, upslanted palpebral fissures, over folded helix, depressed nasal bridge, anteverted nose, malar flattening, Pierre-Robin sequence, high arched palate, short neck) and other manifestations (joint contractures, hyperreflexia, dysplastic nails, developmental delay) are also observed. Caused by mutation in the PIGA gene on chromosome Xp22.|SNOMEDCT_US|N|
C4751111|A rare systemic disease characterised by a neonatal progeroid appearance (not associated with other manifestations of premature ageing) associated with facial dysmorphism (for example macrocephaly or arrested hydrocephaly, proptosis, downslanting palpebral fissures, retrognathia), generalised extreme congenital lack of subcutaneous fat tissue (except in the breast and iliac region) and incomplete signs of Marfan syndrome (mainly severe myopia, joint hyperextensibility and arachnodactyly). Metabolic disturbances are not associated. There is evidence the disease is caused by heterozygous mutation in the FBN1 gene on chromosome 15q21.|SNOMEDCT_US|N|
C4751112|A rare genetic endocrine disease with characteristics of early-onset (before the age of five years old) excessive acceleration of linear growth and body size due to pituitary mixed growth hormone and prolactin secreting adenomas and/or mixed-cell pituitary hyperplasia. Patients present gigantism and may associate acromegalic features (for example coarse facial features, frontal bossing, prognathism, increased interdental space) as well as marked enlargement of hands and feet, soft tissue swelling, appetite increase and acanthosis nigricans.|SNOMEDCT_US|N|
C4751113|A rare genetic renal disease characterised by hereditary nephritis leading to nephrotic syndrome and end-stage renal failure associated with sensorineural hearing loss and pretibial skin blistering followed by atrophy. Other reported manifestations include bilateral lacrimal duct stenosis, dystrophic teeth and nails, bilateral cervical ribs, unilateral kidney, distal vaginal agenesis and anaemia due to beta-thalassaemia minor. There is evidence this syndrome is caused by mutation in the CD151 gene.|SNOMEDCT_US|N|
C4751114|A rare genetic lethal neurometabolic disease characterized by congenital cataracts, sensorineural hearing loss, severe psychomotor developmental delay, severe generalized muscular hypotonia and central nervous system abnormalities (including cerebellar and cerebral hypoplasia, hypomyelination, wide subarachnoid spaces) in the presence of low serum copper and ceruloplasmin. Nystagmus and seizures have also been reported. The disease is caused by homozygous or compound heterozygous mutation in the SLC33A1 gene on chromosome 3q25.|SNOMEDCT_US|N|
C4751120|A rare life-threatening autoinflammatory syndrome with immune deficiency disorder characterised by early-onset life-long inflammation affecting the skin and bowel associated with recurrent infections. Presents with perioral and perianal psoriasiform erythema and papular eruption with pustules, failure to thrive associated with chronic malabsorptive diarrhoea, intercurrent gastrointestinal infections and feeding troubles, as well as absent, short or broken hair and trichomegaly. Recurrent cutaneous and pulmonary infections lead to recurrent blepharitis, otitis externa and bronchiolitis.|SNOMEDCT_US|N|
C4751121|A rare potentially life-threatening genetic endocrine disease characterised by childhood-onset hyperphagia and obesity, alveolar hypoventilation, dysautonomia (for example impaired gastrointestinal motility, abnormal cardiac rhythm, thermal dysregulation), hypothalamic dysfunction and neurobehavioural disorders. Central hypothyroidism, endocrine anomalies (for example glucocorticoid deficiency, puberty dysregulation), electrolyte imbalances (for example hypo/hypernatraemia, hypochloraemia), respiratory failure and late-onset neuroendocrine tumours may also be associated.|SNOMEDCT_US|N|
C4751122|A rare genetic endocrine disease characterised by the association of common variable immunodeficiency manifesting with hypogammaglobulinaemia and recurrent or severe childhood-onset sinopulmonary infections, followed, possibly many years later, by symptomatic adrenocorticotropic hormone (ACTH) deficiency resulting from anterior pituitary hormone deficiency. Caused by heterozygous mutation in the NFKB2 gene on chromosome 10q24.|SNOMEDCT_US|N|
C4751123|A rare non-acquired pituitary hormone deficiency syndrome with characteristics of severe congenital microcephaly, facial dysmorphism (highly arched eyebrows, hypertelorism, convex nasal ridge, protruding ears with underdeveloped superior antihelix crus, micrognathia), bilateral sensorineural deafness and hypogonadotropic hypogonadism, in association with early feeding problems, myopia, moderate intellectual disability and moderate short stature.|SNOMEDCT_US|N|
C4751125|A rare developmental defect during embryogenesis syndrome with characteristics of hypertelorism, bilateral preauricular sinus, bilateral punctal pits, lacrimal duct obstruction, hearing loss, abnormal palmar flexion creases and bilateral distal axial triradii. Shawl scrotum has also been reported.|SNOMEDCT_US|N|
C4751127|A rare hereditary syndromic intellectual disability characterised by cognitive impairment, behavioural and psychiatric problems, recurrent infections, atopic diseases and distinctive facial features in males. Females are clinically asymptomatic or mildly affected presenting mild learning difficulties and facial dysmorphism.|SNOMEDCT_US|N|
C4751129|A rare genetic bone development disorder characterised by occipital and parietal bone hypoplasia leading to occipital encephalocele, calvarial mineralisation defects, craniosynostosis, radiohumeral fusions, oligodactyly and other skeletal anomalies (arachnodactyly, terminal phalangeal aplasia of the thumbs, bilateral absence of the great toes, pronounced bilateral angulation of femora, shortened limbs, advanced osseous maturation). Fetal death in utero is associated. There is evidence the disease can be caused by homozygous mutation in the CYP26B1 gene on chromosome 2p13.|SNOMEDCT_US|N|
C4751130|A rare potentially fatal genetic visceral malformation syndrome characterized by neonatal diabetes, hypoplastic or annular pancreas, duodenal and jejunal atresia as well as gallbladder aplasia or hypoplasia. Patients typically present intrauterine growth restriction, failure to thrive, malnutrition, intestinal malrotation, malabsorption, conjugated hyperbilirubinemia, acholia and infections. Cardiac anomalies may also be associated. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the RFX6 gene on chromosome 6q22.|SNOMEDCT_US|N|
C4751163|A rare developmental defect of the eye with characteristics of bilateral microcornea, posterior megalolenticonus, persistent fetal vasculature (extending from the posterior pole of the lens to the optic disc) and posterior chorioretinal coloboma.|SNOMEDCT_US|N|
C4751164|A rare idiopathic skin disease with characteristics of widespread, congenital, superficial erosions and vesicles (often involving more than 75% of the body) which heal leaving scars with a supple, symmetrical, reticulated pattern, frequently resulting in cicatricial alopecia and hyperthermia and/or hypohidrosis. Nail anomalies, neurodevelopmental and ophthalmologic abnormalities, tongue atrophy and preterm birth, with or without history of chorioamnionitis, are commonly associated.|SNOMEDCT_US|N|
C4751165|A rare junctional epidermolysis bullosa subtype characterized by late-onset blistering surrounded by erythema and localized on the anterior aspect of the lower legs, associated with dystrophic toenails, tooth enamel defects and mild to severe intellectual disability. Lens subluxation and mild facial dysmorphism (with short midface, prognathism and thin upper lip vermilion) are additional reported features. There have been no further descriptions in the literature since 1992.|SNOMEDCT_US|N|
C4751166|A rare acquired dermis elastic tissue disorder characterised by asymptomatic palpable hypertrophic or atrophic, yellowish or red, indurated, horizontal, striae-like linear plaques distributed symmetrically across the mid and lower back. No systemic involvement has been described. Skin biopsy reveals a focal increase in abnormal elastic tissue with abundant wavy, fragmented and aggregated basophilic elastic fibres in the reticular dermis.|SNOMEDCT_US|N|
C4751167|A rare acquired dermis elastic tissue disorder with characteristics of a pseudoxanthoma elasticum-like papular eruption consisting of multiple, slowly progressive, asymptomatic, 2-5 mm, white to yellowish, non-follicular papules (that tend to form cobblestone plaques) predominantly distributed over the neck, axillae and flexural areas, with no systemic involvement. Skin biopsy reveals a focal increase of normal-appearing elastic tissue in the reticular dermis with no calcium deposits.|SNOMEDCT_US|N|
C4751168|Pitt-Hopkins-like syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by severe intellectual disability, lack of speech with normal, or mildly delayed, motor development, episodic breathing abnormalities, early-onset seizures and facial dysmorphism which only includes a wide mouth. Abnormal sleep-wake cycles, autistic behavior and stereotypic movements are commonly associated.|MONDO|N|
C4751169|A rare syndromic nail anomaly disorder with characteristics of the association of leukonychia totalis with acanthosis-nigricans-like lesions (occurring in the neck, axillae and abdomen regions) and hair dysplasia, manifesting with dry, brittle hair which presents an irregular pattern of complete or incomplete twists and an irregular surface with longitudinal furrows on electronic microscopy.|SNOMEDCT_US|N|
C4751188|In a transitional lipoma of the spinal cord the lipoma-spinal cord interface includes the conus medullaris and extends to the dorsal and caudal aspects of the lumbar spinal cord.|SNOMEDCT_US|N|
C4751204|A rare genetic sterol metabolism disorder characterised by increased LDL cholesterol serum levels (which are resistant to treatment with 3-hydroxy-3-methylglutaryl-coenzyme A reductase inhibitors), hypertriglyceridaemia, and decreased rate of bile acid excretion, resulting from cholesterol 7alpha-hydroxylase deficiency. Premature gallstone disease and/or premature coronary and peripheral vascular disease are frequently associated.|SNOMEDCT_US|N|
C4751205|An extremely rare primary bone dysplasia with increased bone density disorder characterized by severe osteoclast-poor osteopetrosis associated with hypogammaglobulinemia. Patients typically present infantile malignant osteopetrosis (manifesting with increased bone density, bone fractures, abnormal eye movements/visual loss, nystagmus), hematologic abnormalities with bone marrow failure (for example anemia, hepatosplenomegaly) and immunological deficiency (manifesting as recurrent respiratory infections) associated with reduced immunoglobulin levels due to impaired peripheral B cell differentiation. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the TNFRSF11A gene on chromosome 18q21.|SNOMEDCT_US|N|
C4751206|A rare rheumatologic disease with the occurrence of inflammatory arthritis in association with large erythematous symmetrical cutaneous lesions (ranging from typical but infrequent cord-like lesions on the flanks to more common violaceous plaques on the trunk and limbs) featuring a typical histologic infiltrate mainly constituted of histiocytes.|SNOMEDCT_US|N|
C4751207|An extremely rare genetic congenital joint formation defect disorder with characteristics of unilateral or bilateral fusion of the humerus, radius and ulnar bones, leading to loss of elbow motion and in most, functional arm incapacity. It may appear as distal humeral bifurcation with absent elbow joint and shortened arm length on imaging. Hand abnormalities namely oligo-ectrosyndactyly may be associated.|SNOMEDCT_US|N|
C4751208|A group of rare genetic developmental defect during embryogenesis disorders with the association of sensorineural deafness and onychodystrophy (for example absent/hypoplastic finger and toenails) as well as brachydactyly and finger-like thumbs.|SNOMEDCT_US|N|
C4751209|A rare infectious disease with characteristics of familial primary chronic Epstein-Barr virus infection, which typically manifests with persistent mononucleosis-like signs and symptoms in the absence of secondary immunodeficiency.|SNOMEDCT_US|N|
C4751229|A rare congenital limb malformation syndrome with characteristics of facial dysmorphism (high forehead, depressed nasal bridge, long philtrum, flat malar region, high arched palate), short stature and deformities of the hands and feet (small hands/feet, flexion contractures of the first three metacarpophalangeal joints, extension contractures of the thumbs at the interphalangeal joints, clawed toes, mild pes cavus). Additional features include neonatal hypotonia, thin and shiny skin of the hands/feet, ridged nails, dry and coarse hair, mild weakness of the orbicularis oculi muscles and occasional ventricular extrasystoles. Intellectual disability may be present. There have been no further descriptions in the literature since 1970.|SNOMEDCT_US|N|
C4751230|A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of cerebellar-like ataxia, photosensitivity (mainly of the face and trunk), short stature and intellectual disability. Additional features include clinodactyly, single palmar transverse crease, high-arched palate, pseudohypertrophy of the calves and aortic valve lesions. There have been no further descriptions in the literature since 1983.|SNOMEDCT_US|N|
C4751231|An extremely rare developmental defect during embryogenesis malformation syndrome with characteristics of bands of extensile tissue connecting the margins of the upper and lower eyelids in association with anal atresia. Patients may additionally present cleft palate, hydrocephalus and meningomyelocele. There have been no further descriptions in the literature since 1993.|SNOMEDCT_US|N|
C4751232|A rare genetic refraction anomaly disorder with characteristics of non-syndromic severe myopia, which may be associated with cataract and vitreoretinal degeneration (retinal detachment) that may lead to blindness.|SNOMEDCT_US|N|
C4751233|A rare hereditary neurologic disease with characteristics of early-onset cognitive impairment as a sole disability. The disease may be associated with autism, epilepsy and neuromuscular deficits.|SNOMEDCT_US|N|
C4751234|An extremely rare aggressive primary uterine neoplasm, originating from neuroendocrine cells scattered within the endometrium. Macroscopic characteristics are a bulky frequently polypoid mass with abundant necrosis located in the uterus. Histological characteristics are rosette-like and cord-like structures consisting of small rounded cells with oval nuclei and scarce cytoplasm. Patients often present with dysfunctional uterine bleeding, pelvic or abdominal mass and abdominal pain, especially in later stages of the disease. Symptomatic metastatic spread or symptoms related to a paraneoplastic syndrome such as retinopathy or Cushing syndrome due to ectopic ACTH production may be associated.|SNOMEDCT_US|N|
C4751235|A rare aggressive primary cervical neoplasm originating from neuroendocrine cells present in the lining epithelium of the cervix. Macroscopic characteristics are usually large lesions sometimes with a barrel-shaped appearance. Patients often present with abnormal vaginal bleeding or discharge, pelvic/abdominal pain, post-coital spotting and/or dysuria, while symptoms related to carcinoid syndrome are not frequent.|SNOMEDCT_US|N|
C4751431|A rare life-threatening cutaneous disease characterised by a keratinocytic epidermal naevus presenting thick, hystrix-like, white or brownish hyperkeratosis associated with multiple extracutaneous vascular malformations, including angiodysplasia that involves large-vessel arteriovenous shunts that may be fatal during the neonatal period.|SNOMEDCT_US|N|
C4751432|A rare endocrine disease with characteristics of the appearance of transient hypothyroidism usually in preterm newborns following long or short-term topical iodine exposure. Parenteral exposure from iodinated contrast agents may similarly alter thyroid function in term neonates.|SNOMEDCT_US|N|
C4751433|A rare acquired pituitary hormone deficiency with characteristics of secondary adrenal insufficiency with normal secretion of anterior pituitary hormones, except for adrenocorticotropic hormone (ACTH). Patients present with weakness, fatigue, weight loss, anorexia, vomiting/nausea, hypoglycemia and abnormally low serum ACTH and cortisol levels. Association with autoimmune disease such as Hashimoto''s thyroiditis has been described.|SNOMEDCT_US|N|
C4751434|A rare neurologic disease with characteristics of persistent elevation of the serum creatine phosphokinase (CK) without any clinical, neuro-physical or histopathological evidence of neuromuscular disease using available laboratory procedures. It is usually an incidental finding, diagnosed after exclusion of other possible causes of elevated CK levels.|SNOMEDCT_US|N|
C4751435|A rare potentially sight-threatening ocular disease not attributed to any specific ocular or systemic cause. The disease has characteristics of focal, multifocal or diffuse non-infectious inflammation in the posterior uvea (such as choroiditis, chorioretinitis, retinitis and neuroretinitis). Visual morbidity due to complications (including cystoid macular oedema and choroidal neovascularisation) has been reported.|SNOMEDCT_US|N|
C4751436|A rare acquired eye disease with characteristics of progressive visual loss due to bilateral juxta foveolar capillary occlusions, capillary telangiectasia and minimal exudation. It is associated with systemic or cerebral vascular occlusive disease.|SNOMEDCT_US|N|
C4751437|A rare acquired eye disease with characteristics of unilateral (rarely bilateral) abnormally dilated and tortuous capillaries around the fovea, associated with multiple arteriolar and venular aneurysms, lipid depositions, and intra-retinal cystoid degeneration. It leads to vision loss due to macular edema with hard exudates.|SNOMEDCT_US|N|
C4751438|A rare acquired ocular disease with characteristics of migratory or non-migratory horizontal linear stromal infiltrates that may heal spontaneously. Minimal vascularization and scarring may be observed but vision loss is not associated.|SNOMEDCT_US|N|
C4751505|A rare genetic neurodegenerative disease with characteristics of dementia and mild parkinsonism with poor levodopa response. Presenting clinical manifestations are memory problems, short attention span, disorientation, language impairment, rigidity, bradykinesia, postural instability and behavioural changes including apathy, anxiety and delusions.|SNOMEDCT_US|N|
C4751506|A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of delayed motor development, intellectual disability, dysarthria, pseudobulbar signs, cryptorchidism, and syndactyly associated with a FLBN1 gene point mutation. Macular degeneration and signs of brain atrophy and spinal cord compression have also been reported.|SNOMEDCT_US|N|
C4751507|A rare genetic hematologic disorder characterized by progressive trilineage bone marrow failure (with hypocellularity), developmental delay with learning disabilities and microcephaly. Mild facial dysmorphism and hypotonia have also been reported. There is evidence the disease is caused by homozygous mutation in the ERCC6L2 gene on chromosome 9q22.|SNOMEDCT_US|N|
C4751516|A very rare secondary neonatal autoimmune disease characterized by generalized weakness, severe hypotonia, absent or reduced deep tendon reflexes and highly elevated serum creatine kinase levels presenting in the neonatal period. Perifascicular atrophy in the presence of a diffuse perivascular inflammatory cell exudate is observed on muscle biopsy.|SNOMEDCT_US|N|
C4751517|A very rare secondary neonatal autoimmune disease characterized by onset of hemolytic anemia in the neonatal period associated with a positive direct antiglobulin test. Hepatosplenomegaly may be associated.|SNOMEDCT_US|N|
C4751518|A rare secondary neonatal autoimmune disease with characteristics of single or recurrent episodes of venous, arterial or mixed thrombosis in a neonate whose mother does not have antiphospholipid syndrome manifestations. Patients present positive antiphospholipid antibodies and may have additional abnormalities associated (for example cardiac valve disease, livedo reticularis, thrombocytopenia, nephropathy, neurological manifestations).|SNOMEDCT_US|N|
C4751568|A rare genetic syndromic intellectual disability disorder with characteristics of severe intellectual disability, non-inherited progressive post-natal microcephaly, hypotonia, hyperkinesia, absence of speech, strabismus, and midline stereotypic hand movements (for example hand washing/rubbing). Additional features include developmental delay, seizures and behavioural disturbances, such as self-injury and unexplained crying episodes.|SNOMEDCT_US|N|
C4751569|A rare genetic neural tube defect malformation syndrome with characteristics of sacral agenesis and abnormal vertebral body ossification with normal vertebral arches associated with notochord canal persistence on ultrasonography. Additional findings include bilateral clubfoot, oligohydramnios, and single umbilical artery and in some cases increased nuchal translucency. There is evidence the disease can be caused by homozygous mutation in the T gene on chromosome 6q27.|SNOMEDCT_US|N|
C4751570|A rare genetic metabolic liver disease with characteristics of progressive neurodegeneration, cutaneous abnormalities including varying degrees of ichthyosis or seborrheic dermatitis, and systemic iron overload. Patients manifest with infantile-onset seizures, encephalopathy, abnormal eye movements, axial hypotonia with peripheral hypertonia, brisk reflexes, cortical blindness and deafness, myoclonus and hepato/splenomegaly, as well as oral manifestations including microdontia, widely spaced and pointed teeth with delayed eruption and gingival overgrowth.|SNOMEDCT_US|N|
C4751572|A rare genetic neuromuscular disease characterized by normokalemic episodes of painful muscle cramping followed by progressive permanent flaccid weakness. Triggered by stress, cold and exercise and associated with myopathic myopathy and painful acute edema with neuronal compression, foot drop and muscle degeneration when located in the tibialis anterior muscle group.|SNOMEDCT_US|N|
C4751573|A rare genetic neuromuscular disease with characteristics of acute episodic muscle weakness in upper and lower extremities (which responds to acetazolamide treatment) associated with later-onset chronic slowly progressive distal axonal neuropathy.|SNOMEDCT_US|N|
C4751574|A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of short stature, conductive hearing loss due to bilateral auditory canal atresia, mandibular hypoplasia and multiple skeletal abnormalities, including bilateral humeral hypoplasia, humeroscapular synostosis, delayed pubis rami ossification, central dislocation of the hips, and proximal femora defects, as well as bilateral talipes equinovarus, proximally implanted thumbs and lumbar hyperlordosis. Associated craniofacial dysmorphism includes micro/scaphocephaly, malar hypoplasia, high-arched palate and simple, dysplastic pinnae with preauricular pits/tags. Caused by homozygous mutation in the GSC gene on chromosome 14q32.|SNOMEDCT_US|N|
C4751594|A rare genetic syndromic intellectual disability disorder with highly variable phenotype. Typical characteristics are mild to severe global development delay, severe speech and language impairment, mild to severe intellectual disability, dysphagia, hypotonia, relative to true macrocephaly and behavioral problems that may include autistic features, hyperactivity and mood lability. Facial gestalt typically features a broad, prominent forehead, hypertelorism, downslanting palpebral fissures, ptosis, short bulbous nose with broad tip, thick vermilion border, wide and open mouth with downturned corners. Brain, cardiac, urogenital and ocular malformations may be associated. Caused by heterozygous mutation in the FOXP1 gene on chromosome 3p13.|SNOMEDCT_US|N|
C4751595|A rare genetic parenchymatous liver disease with characteristics of pre and postnatal growth retardation, mild global developmental delay, chronic hepatitis with hepatosplenomegaly, Hashimoto thyroiditis, thrombocytopenia, anaemia, and B-precursor acute lymphoblastic leukaemia.|SNOMEDCT_US|N|
C4751596|A rare genetic mitochondrial oxidative phosphorylation disorder with characteristics of intrauterine growth retardation, microcephaly, hypotonia, vision impairment, speech and language delay and lactic acidosis with reduced respiratory chain activity (typically complex I). Additional features may include macrocytic anemia, tremor, muscular atrophy, dysmetria and mild intellectual disability. Caused by homozygous or compound heterozygous mutation in the SFXN4 gene on chromosome 10q26.|SNOMEDCT_US|N|
C4751597|A rare neuroinflammatory disease characterized by the onset of ataxia, dysarthria and cerebral white matter changes that are triggered by viral infection. Episodic progressive neurodegeneration (manifesting with loss of motor and verbal skills, muscle weakness, further cerebral white matter degeneration and eventually, death) is observed in the absence of hematopathology, cytokine overproduction, fever, hypertriglyceridemia, hypofibrinogenemia and hyperferritinemia.|SNOMEDCT_US|N|
C4751598|A rare genetic parenchymal hepatic disease with characteristics of acute liver failure that occurs in the first year of life, which manifests with failure to thrive, hypotonia, moderate global developmental delay, seizures, abnormal liver function tests, microcytic anaemia and elevated serum lactate. Other associated features include hepato-steatosis and fibrosis, abnormal brain morphology, and renal tubulopathy. Minor illness exacerbates deterioration of liver failure. There is evidence the disease may be caused by homozygous mutation in the LARS gene on chromosome 5q32.|SNOMEDCT_US|N|
C4751599|A rare skin disease characterised by the association of sebaceous naevus and aplasia cutis congenita (usually on the scalp and face) in conjunction with limbal dermoid of the eye, a giant congenital melanocytic naevus and variable central nervous system abnormalities including seizures, hydrocephalus, neurocutaneous melanosis, arachnoid cysts, and diffuse unilateral hemisphere enlargement.|SNOMEDCT_US|N|
C4751600|A rare skin disorder with characteristics of the co-occurrence of sebaceous nevi with aplasia cutis congenita located directly adjacent or in close proximity and ocular abnormalities including limbal dermoids and coloboma of the conjunctiva.|SNOMEDCT_US|N|
C4751601|A rare naevus disorder characterised by the presence of epidermal naevi consisting of depigmented hypertrichosis manifesting with long, soft, white hair which grows from dilated follicles and follows Blaschko lines, typically located on the scalp, neck, face, trunk and/or limbs. Association with hyperpigmented, hyperkeratotic linear epidermal naevi, macrocephaly, body asymmetry, sacral pit and koilonychia as well as skeletal, ocular and neurological abnormalities have also been reported.|SNOMEDCT_US|N|
C4751602|A rare genetic developmental defect of the eye disease with characteristics of childhood onset of mild to severe myopia with microcornea and chorioretinal atrophy typically associated with telecanthus and posteriorly rotated ears. Other variable features include early-onset cataracts, ectopia lentis, ectopia pupil and retinal detachment. There is evidence the disease is caused by homozygous mutation in the ADAMTS18 gene on chromosome 16q23.|SNOMEDCT_US|N|
C4753470|Encephalopathy caused by SCN2A mutation. SCN2A encodes the major subunit of voltage-gated sodium channels in excitatory neurons. Mutation may be associated with hereditary disease including autosomal dominant epilepsy syndrome and benign familial neonatal infantile seizures. De novo SCN2A mutations have been accepted to cause severe disorders including epileptic encephalopathies, intellectual disability without epilepsy, Ohtahara and West syndrome, epilepsy of infancy with migrating focal seizures (EIMFS).|SNOMEDCT_US|N|
C4755249|A rare genetic subtype of non-syndromic pontocerebellar hypoplasia with characteristics of progressive cerebellum and brainstem atrophy, corpus callosum hypo/aplasia and progressive post-natal microcephaly. Patients typically present profound global developmental delay, spastic tetraparesis, seizures, cortical visual impairment and on neuroimaging abnormal brain morphology that includes pontocerebellar hypoplasia, figure of 8 midbrain appearance and more variably interhemispheric cysts, ventriculomegaly and cerebral dysmyelination. There is evidence the disease is caused by homozygous mutation in the AMPD2 gene on chromosome 1p13.|SNOMEDCT_US|N|
C4755251|A rare genetic primary immunodeficiency disorder with characteristics of severe congenital neutropenia, bone marrow fibrosis and neutrophil dysfunction which is refractory to granulocyte colony-stimulating factor, manifesting with life-threatening infections and/or deep-seated abscesses, hepato/splenomegaly, thrombocytopenia, hypergammaglobulinemia, anemia with reticulocytosis and nephromegaly. Other reported features include osteosclerosis and neurological abnormalities (for example developmental delay, cortical blindness, hearing loss, thin corpus callosum or dysrhythmia on EEG). Caused by homozygous mutation in the VPS45 gene on chromosome 1q.|SNOMEDCT_US|N|
C4755252|A rare genetic neurodegenerative disorder with characteristics of ventriculomegaly and progressive symmetrical atrophy of the cerebral cortex gray and white matter (sparing the midbrain, brainstem, cerebellum and infratentorial segments). The disease manifests in early infancy with acquired microcephaly, irritability, regression of developmental milestones, feeding difficulties, akathisia, exaggerated startle response, spasticity (fisted hands, stiff arms, leg scissoring), abnormal muscle tone with hypotonic trunk and hypertonic extremities, visual impairment and seizures.|SNOMEDCT_US|N|
C4755253|Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome is a rare, genetic, syndromic microphthalmia disorder characterized by bilateral, usually asymmetrical, microphthalmia associated typically with a unilateral coloboma, truncal obesity, borderline to mild intellectual disability, hypogenitalism and, more variably, nystagmus, cataracts and developmental delay.|ORPHANET|N|
C4755254|Hypomyelination with brainstem and spinal cord involvement and leg spasticity is an autosomal recessive leukoencephalopathy characterized by onset in the first year of life of severe spasticity, mainly affecting the lower limbs and resulting in an inability to achieve independent ambulation. Affected individuals show delayed motor development and nystagmus; some may have mild mental retardation. Brain MRI shows hypomyelination and white matter lesions in the cerebrum, brainstem, cerebellum, and spinal cord (summary by Taft et al., 2013).|OMIM|N|
C4755255|A rare partial autosomal monosomy syndrome with characteristics of neonatal hypotonia, prenatal and postnatal growth deficiency, severe feeding difficulties, global developmental delay and intellectual disability, dental anomalies (delayed tooth eruption, delayed loss of primary teeth, dental crowding), recurrent respiratory infections, thrombocytopenia and facial dysmorphism (flat facial profile, medially sparse eyebrows, epicanthal folds, flat nasal bridge and tip, short philtrum). Behavioural abnormalities (ADHD, Asperger syndrome) have also been reported.|SNOMEDCT_US|N|
C4755256|A severe form of neonatal epilepsy that usually manifests in newborns during the first week of life with seizures (that affect alternatively both sides of the body), often accompanied by clonic jerking or more complex motor behavior, as well as signs of encephalopathy such as diffuse hypotonia, limb spasticity, lack of visual fixation and tracking and mild to moderate intellectual deficiency. The severity can range from controlled to intractable seizures and mild/moderate to severe intellectual disability. Caused by heterozygous mutation in the KCNQ2 gene on chromosome 20q13.|SNOMEDCT_US|N|
C4755257|A rare subtype of autosomal dominant intermediate Charcot-Marie-Tooth disease with characteristics of debilitating neuropathic pain associated with mild distal symmetrical lower limb sensory loss and mild or absent motor dysfunction. Patients typically manifest with burning, aching, shooting or throbbing pain and intermittent paresthesia in toes, heels and ankles.|SNOMEDCT_US|N|
C4755258|A rare midline cerebral malformation disorder with characteristics of duplicated pituitary stalks and/or glands within duplicated sella. Patients may present various degrees of facial dysmorphism and endocrine abnormalities, including precocious puberty, hypogonadism, hypothyroidism and/or hyperprolactinaemia, as well as associated congenital anomalies such as cleft lip/palate, bifid nasal bridge/tongue/uvula, hypothalamic enlargement with or without hamartoma, nasopharyngeal tumours, corpus callosum agenesis/hypoplasia, basilar artery duplication, and/or vertebral defects (in particular duplication of the odontoid process).|SNOMEDCT_US|N|
C4755260|A rare chromosomal anomaly syndrome resulting from the partial deletion of the short arm of chromosome 12. The disorder has characteristics of intellectual disability, global developmental delay with prominent language impairment, behavioral abnormalities and mild facial dysmorphism (including frontal bossing, downslanting palpebral fissures, epicanthal folds, broad, depressed nasal bridge with bulbous nasal tip, low-set ears with underdeveloped helices). Other associated features may include skeletal abnormalities (butterfly vertebrae, scoliosis), strabismus, optic nerve hypoplasia and brain malformations.|SNOMEDCT_US|N|
C4755261|A rare genetic lethal primary bone dysplasia with characteristics of dysmorphic craniofacial features (low-set, posteriorly rotated ears, hypertelorism, megalophthalmos, flattened and hypoplastic midface, micrognathia), hypomineralisation of the calvarium, craniosynostosis, hypoplastic clavicles and pubis and bent long bones (particularly involving the femora). Caused by germline mutations in the FGFR2 gene. Prematurely erupted fetal teeth, osteopenia, hirsutism, clitoromegaly, gingival hyperplasia, and hepatosplenomegaly with extramedullary hematopoesis may also be associated.|SNOMEDCT_US|N|
C4755262|A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of congenital microcephaly, severe epilepsy with hypsarrhythmia, adducted thumbs, abnormal genitalia, and normal thyroid function. Hypotonia, moderate to severe psychomotor delay, and characteristic facial dysmorphism (including round face with prominent cheeks, blepharophimosis, large, bulbous nose with wide alae nasi, posteriorly rotated ears with dysplastic conchae, narrow mouth, cleft palate, and mild micrognathia) are additional characteristic features.|SNOMEDCT_US|N|
C4755263|A rare genetic ectodermal dysplasia syndrome with characteristics of persistent skin fragility which manifests with blistering and erosions due to minimal trauma, woolly hair with variable alopecia, hyperkeratotic nail dysplasia, diffuse or focal palmoplantar keratoderma with painful fissuring, and no cardiac abnormalities. Perioral hyperkeratosis may also be associated. Caused by homozygous or compound heterozygous mutation in the desmoplakin gene on chromosome 6p24.|SNOMEDCT_US|N|
C4755264|A rare complex spastic paraplegia with characteristics of early onset hypotonia that progresses to spasticity, global developmental delay, severe intellectual disability and speech impairment, microcephaly, short stature and dysmorphic features. Patients often become non-ambulatory and some develop seizures and stereotypic laughter.|SNOMEDCT_US|N|
C4755272|A rare genetic non-syndromic developmental defect of the eye disorder with the association of posterior microphthalmia, retinal dystrophy compatible with retinitis pigmentosa, localized foveal schisis and optic disc drusen. Patients present high hyperopia, usually adult-onset progressive nyctalopia and reduced visual acuity and on occasion acute-angle glaucoma. Caused by homozygous or compound heterozygous mutation in the MFRP gene on chromosome 11q23.|SNOMEDCT_US|N|
C4755274|A form of hypotonia-cystinuria type 1 syndrome with characteristics of mild to moderate intellectual disability in addition to classic hypotonia-cystinuria syndrome phenotype (cystinuria type 1, generalized hypotonia, poor feeding, growth retardation and minor facial dysmorphism).|SNOMEDCT_US|N|
C4755275|A rare genetic lethal multiple congenital anomalies/dysmorphic syndrome with characteristics of failure to thrive, severe developmental delay, severe postnatal microcephaly, frequent congenital cardiac defects and characteristic facial dysmorphism (including coarse face with anteverted nostrils, thin vermillion, prominent alveolar ridge and retro or micrognathia). Additional common features include neurologic abnormalities (hyper/hypotonia, sensorineural deafness, hydrocephalus, cerebral atrophy, seizures), as well as brachydactyly, cutis marmorata and genital anomalies. Caused by homozygous mutation in the FTO gene on chromosome 16q12.|SNOMEDCT_US|N|
C4755278|A rare genetic mitochondrial oxidative phosphorylation disorder with characteristics of infantile-onset encephalomyopathy presenting with developmental delay, slowly progressive hemiplegia, intractable epileptic seizures and asymmetrical brain atrophy with dilatation of the ipsilateral ventricle system. Additional features include optic atrophy, mildly increased plasma and/or CSF lactate and decreased cytochrome c oxidase activity in skeletal muscle biopsy.|SNOMEDCT_US|N|
C4755295|A rare genetic dermis disorder with characteristics of slowly progressive thickening of the scalp, which becomes raised and forms ridges and furrows with symmetrical distribution resembling the cerebral gyri and cannot be flattened by traction or pressure, associated with ophthalmologic (for example congenital cataract) and/or neurological abnormalities (for example intellectual disability, epilepsy, microcephaly, encephalopathy).|SNOMEDCT_US|N|
C4755296|A rare genetic primary immunodeficiency due to a defect in innate immunity disorder with characteristics of impaired intracellular signaling from both type I and type II interferons, leading to early-onset, severe, life-threatening intracellular bacterial (typically mycobacteria) and viral (mainly herpes viruses) infections. Caused by homozygous mutation in the STAT1 gene on chromosome 2q32.|SNOMEDCT_US|N|
C4755297|A rare mixed functioning pituitary adenoma with characteristics of co-secretion of growth hormone and prolactin, which manifests with signs and symptoms of both acromegaly and hyperprolactinemia.|SNOMEDCT_US|N|
C4755298|A rare epilepsy syndrome with characteristics of recurrent, long-lasting myoclonic status in infants and young children with a non-progressive encephalopathy, associated with transient and recurring motor, cognitive and/or behavioural disturbances.|SNOMEDCT_US|N|
C4755299|A rare genetic complex hereditary spastic paraplegia disorder with characteristics of adulthood-onset of slowly progressive, bilateral, mainly lower limb spasticity and distal weakness associated with lower limb pain, hyperreflexia, and reduced vibration sense. Axonal neuropathy is frequently observed on electromyography and nerve conduction examination.|SNOMEDCT_US|N|
C4755300|A rare acquired eye disease with characteristics of unilateral or bilateral abnormal fluid accumulation within the suprachoroidal space. This results in internal choroidal elevation in the absence of any known cause such as decreased intraocular tension, intraocular neoplasm, intraocular inflammation or nanophthalmos. Patients typically present a protracted, relapsing-remitting course of visual acuity loss and fundus examination shows annular celio-choroidal detachment and shifting, serous retinal detachment.|SNOMEDCT_US|N|
C4755301|A rare skeletal muscle disease with characteristics of eosinophilic infiltration and inflammatory lesions of the skeletal muscle tissue in the absence of an identifiable causative factor (for example parasitic infection, drug intake, systemic or malignant disease). Clinically patients may present focal or generalised muscle weakness and pain, difficulties with walking, motor clumsiness, as well as elevated serum creatine kinase levels and peripheral blood and/or bone marrow hypereosinophilia.|SNOMEDCT_US|N|
C4755302|A rare genetic isolated palmoplantar keratoderma disorder with characteristics of focal hyperkeratotic lesions affecting the pressure and mechanical trauma bearing areas of the palms and soles, as well as hyperkeratotic plaques involving joints, including knees, elbows, ankles and dorsa of interphalangeal joints. Caused by heterozygous mutation in the DSG1 gene on chromosome 18q12.|SNOMEDCT_US|N|
C4755307|A rare genetic neurological disease characterized by the presence of fragile small-vessel intracerebral vasculature in various members of a single family. Clinical manifestations are single or recurrent hemorrhagic and/or ischemic stroke and frequently ocular and renal involvement. Neuroimaging reveals diffuse periventricular leukoencephalopathy associated with dilated perivascular spaces, lacunar infarction and microhemorrhages. There is evidence the disease is caused by heterozygous mutation in the COL4A1 gene on chromosome 13q34.|SNOMEDCT_US|N|
C4755308|A rare genetic neurological disorder with characteristics of dissection of the cervical artery in various members of a single family, presenting with variable manifestations which range from asymptomatic to the triad of ipsilateral pain in the head, neck, and face, Horner syndrome and cerebral or retinal ischemic symptoms. Headache and cerebral ischemic features are most frequently observed.|SNOMEDCT_US|N|
C4755309|A rare genetic isolated palmoplantar keratoderma disorder with characteristics of non-epidermolytic, diffuse hyperkeratotic lesions affecting both the palms and the soles, associated with a tendency of painful fissuring. Contrary to the clinical findings, histologic examination reveals findings suggestive of keratosis palmoplantaris striata, with ortho hyperkeratosis featuring widening of the intercellular spaces and dis-adhesion of keratocytes in the upper epidermal layers. Caused by heterozygous mutation in the DSG1 gene on chromosome 18q12.|SNOMEDCT_US|N|
C4755310|A rare epilepsy syndrome characterised by late-onset (after 1 year old) epileptic spasms that occur in clusters, associated with tonic seizures, atypical absences and cognitive deterioration. Language difficulties and behaviour problems are frequently present. EEG is characterised by a temporal or temporofrontal slow wave or spike focus combined with synchronous spike-waves and no hypsarrhythmia or background activity.|SNOMEDCT_US|N|
C4755311|An extremely rare aldosterone-producing neoplasm composed of aberrant adrenocortical tissue located outside the adrenal glands (for example in retroperitoneum, perirenal or periaortic fatty tissue, thorax, spinal canal, testes, ovaries). Typical characteristics are symptoms related to increased aldosterone levels (such as sustained, treatment-resistant hypertension and hypokalemia) or symptoms caused by local tumor enlargement.|SNOMEDCT_US|N|
C4755312|The spectrum of FARS2 deficiency ranges from the infantile-onset phenotype, characterized by epileptic encephalopathy with lactic acidosis and poor prognosis (70% of affected individuals), to the later-onset phenotype, characterized by spastic paraplegia, less severe neurologic manifestations, and longer survival (30% of affected individuals). To date FARS2 deficiency has been reported in 37 individuals from 25 families. Infantile-onset phenotype. Seizures are difficult to control and may progress quickly at an early age to intractable seizures with frequent status epilepticus; some children have hypsarrhythmia on EEG. All have developmental delay; most are nonverbal and unable to walk. Feeding difficulties are common. More than half of affected children die in early childhood. Later-onset phenotype. All affected individuals have spastic paraplegia manifested by weakness, spasticity, and exaggerated reflexes of the lower extremities associated with walking difficulties; some have developmental delay/intellectual disability; some have brief seizures that resolve over time.|GeneReviews|N|
C4755313|Carcinofibroma of the corpus uteri is an extremely rare subtype of mixed müllerian tumor characterized by the presence of a uterine neoplasm which simuntaneously presents a malignant epithelial component (carcinomatous glands) and a benign mesenchymal component. Clinical presentation typically includes dysfunctional vaginal bleeding, abnormal vaginal discharge and/or lower abdominal pain.|ORPHANET|N|
C4755315|A rare genetic developmental defect during embryogenesis disorder with characteristics of abnormal forward projection of the mandible beyond the standard relation to the cranial base, with lower incisors often overlapping the upper incisors, that is inherited in an autosomal dominant manner. Association with mildly everted lower eyelids, flat malar area, thickened lower lip and craniosynostosis has been reported.|SNOMEDCT_US|N|
C4755319|A rare chromosomal anomaly with characteristics of prenatal and postnatal growth retardation, developmental delay, intellectual impairment, dysmorphic signs and variable combination of congenital anomalies, including cardiovascular, genitourinary and skeletal anomalies and spectrum of caudal malformations.|SNOMEDCT_US|N|
C4757947|A hematological neoplasm characterized by clonal proliferation of myeloid precursors in the bone marrow, blood and other tissues (spleen, liver), with clinical, morphological and molecular features of myeloproliferative neoplasms (MPN), failing to meet criteria of a specific MPN. The presentation is nonspecific and variable and often includes leukocytosis, thrombocytosis and anemia. Splenomegaly, hepatomegaly as well as fatigue, malaise or weight loss may appear in advanced stages.|SNOMEDCT_US|N|
C4757950|A rare genetic mitochondrial oxidative phosphorylation disorder that may present with a wide range of symptoms (including muscular hypotonia, hypertrophic cardiomyopathy, psychomotor delay, encephalopathy, peripheral neuropathy, lactic acidosis, 3-methylglutaconic aciduria) and clinical syndromes including Neuropathy, Ataxia, and Retinitis Pigmentosa (NARP) syndrome and Maternally inherited Leigh (MILS) syndrome.|SNOMEDCT_US|N|
C4757951|A mixed neuronal-glial tumour representing a histological spectrum of the same tumour. They are usually supratentorially located, large, cystic masses with a peripheral solid component, characterised by prominent desmoplastic stroma and pleomorphic populations of neoplastic cells with either astrocytic or ganglionic differentiation and poorly differentiated cells in variable proportions. They usually present in the first 18 months of age with rapid head growth, bulging anterior fontanel and bone structures over the tumour, signs of raised intracranial pressure (headache, vomiting, papilloedema), focal neurological signs and sometimes seizures.|SNOMEDCT_US|N|
C4757956|A neurological disorder with characteristics of moderate to severe intellectual disability that is evident in early childhood. Early manifestations include delayed development of speech and motor skills, hypotonia, developmental regression, recurrent epilepsy, hyperactivity and autism spectrum disorder. Caused by mutations in the SYNGAP1 gene preventing the production of functional SynGAP protein from one copy of the gene which results in reduced protein activity in cells. May be inherited in an autosomal dominant manner or as a new mutation in the gene.|SNOMEDCT_US|N|
C4757971|A rare coronary artery congenital malformation with characteristics of anomalous origin of the coronary artery from the contralateral sinus of Valsalva with course between the aorta and the pulmonary artery. The anomaly is associated with increased risk of sudden cardiac death especially during exercise.|SNOMEDCT_US|N|
C4758639|Hypersensitivity in form of an adverse immune reaction against cow milk protein.|HPO|N|
C4759655|Paramedian nasal cleft is a rare developmental defect during embryogenesis characterized by a unilateral or bilateral coloboma of the nose, ranging in severity from a small notch, resulting in minor deviation of the nasal septum, to variable-sized clefts of the nasal ala which may be associated with small cysts or sinuses in the nasal midline. Defect may be isolated or may occur in association with cleft lip and/or other craniofacial anomalies (e.g. hypertelorism, broadening of nasal root, midline cleft). Dorsum and apex of nose are usually well preserved.|ORDO|N|
C4759656|An anomaly of the testicle (the male gonad).|HPO|N|
C4759657|A painful tear in the lining of the anal canal, often accompanied by bleeding on defecation. It is usually the result of a traumatic bowel movement or anal sexual penetration.|NCI|N|
C4759669|A deficiency of iodine in the diet.|NCI|N|
C4759670|A rare genetic autoinflammatory syndrome with immune deficiency disease characterized by recurrent and severe flares of generalized pustular psoriasis associated with high fever, asthenia and systemic inflammation due to IL36R antagonist deficiency. Psoriatic nail changes (for example pitting and onychomadesis) and ichthyosis may occasionally be associated.|SNOMEDCT_US|N|
C4759671|Deviated fingers is a term that should be used if one or more fingers of the hand are deviated from their normal position, either to the radial or ulnar side. A deviation of a finger can be caused by an abnormal form of one or more of the phalanges of the affected finger, or by a deviation or displacement of one or more phalanges.|HPO|N|
C4759673|Loss of sections of skin either spontaneously or after gentle handling.|HPO|N|
C4759728|Any osteoarthritis in which the cause of the disease is a mutation in the GDF5 gene.|MONDO|N|
C4759767|A heterogeneous group of disorders associated with walking and growth disturbances that become evident during the second year of life. Characteristics are platyspondyly (flattened vertebrae) and marked hip and knee metaphyseal lesions. The different forms of spondylometaphyseal dysplasia are distinguished by the localisation and severity of involvement of the affected metaphyses.|SNOMEDCT_US|N|
C4759781|Alpha-thalassemia X-linked intellectual disability (ATR-X) syndrome is characterized by distinctive craniofacial features, genital anomalies, hypotonia, and mild-to-profound developmental delay / intellectual disability (DD/ID). Craniofacial abnormalities include small head circumference, telecanthus or widely spaced eyes, short triangular nose, tented upper lip, and thick or everted lower lip with coarsening of the facial features over time. While all affected individuals have a normal 46,XY karyotype, genital anomalies comprise a range from hypospadias and undescended testicles, to severe hypospadias and ambiguous genitalia, to normal-appearing female external genitalia. Alpha-thalassemia, observed in about 75% of affected individuals, is mild and typically does not require treatment. Osteosarcoma has been reported in a few males with germline pathogenic variants.|GeneReviews|N|
C4759823|A type of infection of the central nervous system that can be regarded as a sign of a pathological susceptibility to infection.|HPO|N|
C4759831|Panner's disease is an osteochondrosis of the capitellum of the humerus, characterised by involvement of the dominant upper limb and onset before the age of 10 years. It results from lateral compression injuries of the elbow typically occurring in children practising sports such as baseball and throw. It should be distinguished from osteochondritis dissecans of the capitellum (see this term), occurring later, in adolescents. Management is symptomatic and consists in reducing the activities of the affected elbow for a prolonged period of time. Prognosis is good.|ORDO|N|
C4759844|An adverse event that is asymptomatic; or involves mild or minor symptoms; or is of marginal clinical relevance; or consists of clinical or diagnostic observations alone; or for which intervention is not indicated; or for which only non-prescription intervention is indicated.|NCI|N|
C4759845|An adverse event for which only minimal, local, or noninvasive intervention (e.g. packing, cautery) is indicated; or that limits instrumental activities of daily living (ADLs, e.g., shopping, laundry, transportation, or ability to conduct finances).|NCI|N|
C4759869|Familial temporal lobe epilepsy (FTLE, ETL) is a genetically heterogeneous syndrome characterized by relatively benign simple or complex partial seizures with intense psychic or autonomic auras (Berkovic et al., 1996).
For a discussion of genetic heterogeneity of temporal lobe epilepsy, see ETL1 (600512).|OMIM|N|
C4759870|Spinocerebellar ataxia with axonal neuropathy type 1 (SCAN1) is characterized by late-childhood-onset slowly progressive cerebellar ataxia and distal sensorimotor axonal neuropathy. Gaze nystagmus and dysarthria usually develop after the onset of ataxic gait. As the disease advances, pain and touch sensation in the hands and feet become impaired; vibration sense is lost in hands and lower thighs. Individuals with advanced disease develop a steppage gait and pes cavus and eventually become wheelchair dependent. Cognitive dysfunction – present in some – manifests as mild intellectual disability and poor executive function. To date only seven affected individuals have been described from three apparently unrelated consanguineous families (one from Saudi Arabia and two from Oman); therefore, it is likely that the full phenotypic spectrum of this disorder is not yet known.|GeneReviews|N|
C4759911|Hypersensitivity in form of an adverse immune reaction against insects.|HPO|N|
C4759912|Presence of an abnormal type of hemoglobin characterized by the subsitution of a glutamic acid residue at position 7 following the initial methionine residue by a lysine (6GAG>6AAG). The presence of HbC can be determined by hemoglobin electrophoresis.|HPO|N|
C4759928|Obesity due to mutation in the MC4R gene is the most common cause of monogenic obesity. Patients have early-onset severe obesity and hyperphagia (Farooqi et al., 2003).|OMIM|N|
C4760307|DFNA37 is an autosomal dominant form of early-onset postlingual progressive hearing impairment (Booth et al., 2019).|OMIM|N|
C4760449|An intended site for a dose form that is for administration into the peritoneal cavity.|SNOMEDCT_US|N|
C4760576|The fetal akinesia deformation sequence (FADS) refers to a clinically and genetically heterogeneous constellation of features including fetal akinesia, intrauterine growth retardation, arthrogryposis, and developmental anomalies, including lung hypoplasia, cleft palate, and cryptorchidism (Vogt et al., 2009). It shows phenotypic overlap with the lethal form of multiple pterygium syndrome (see 253290).
For a general phenotypic description and a discussion of genetic heterogeneity of FADS, see 208150.|OMIM|N|
C4760578|Fetal akinesia deformation sequence-4 (FADS4) is an autosomal recessive disorder characterized by decreased fetal movements due to impaired neuromuscular function, resulting in significant congenital contractures and death in utero or soon after birth (summary by Bonnin et al., 2018).
For a general phenotypic description and a discussion of genetic heterogeneity of FADS, see 208150.|OMIM|N|
C4760579|DFNB99 is characterized by prelingual, severe to profound sensorineural hearing loss without vestibular dysfunction (Cheng et al., 2003).|OMIM|N|
C4760583|Coffin-Siris syndrome (CSS) is classically characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth and additional digits, developmental or cognitive delay of varying degree, distinctive facial features, hypotonia, hirsutism/hypertrichosis, and sparse scalp hair. Congenital anomalies can include malformations of the cardiac, gastrointestinal, genitourinary, and/or central nervous systems. Other findings commonly include feeding difficulties, slow growth, ophthalmologic abnormalities, and hearing impairment.|GeneReviews|N|
C4760599|The fetal akinesia deformation sequence (FADS) refers to a clinically and genetically heterogeneous constellation of features including fetal akinesia, intrauterine growth retardation, arthrogryposis, and developmental anomalies, including lung hypoplasia, cleft palate, and cryptorchidism (Vogt et al., 2009). It shows phenotypic overlap with the lethal form of multiple pterygium syndrome (see 253290).
For a general phenotypic description and a discussion of genetic heterogeneity of FADS, see 208150.|OMIM|N|
C4760647|Uridine-cytidineuria (URCTU) is an inborn error of metabolism comprising increased excretion of the pyrimidine nucleosides. This condition has been identified incidentally and may be a benign metabolic phenotype (summary by Wevers et al., 2019).|OMIM|N|
C4760653|An increase of medial mucoid extracellular matrix creating translamellar and/or intralamellar expansions including extracellular pools as noted on an H&E stain and/or a stain to highlight extracellular matrix material (Movat's pentachrome, Alcian blue, etc.).|HPO|N|
C4760706|The number of band cells in the peripheral blood circulation is above the upper limit of normal. Band cells are immature neutrophils with a size of 10-18 micrometers, a horseshoe-shaped nucleus with no nucleoli, light-pink staining cytoplasm with many small secondary granules, and a nucleus:cytoplasm ratio of 1:2.|HPO|N|
C4760707|An abnormal narrowing of the urethral opening (meatus) of the penis.|HPO|N|
C4760764|A rare genetic systemic disease with the presence of arterial aneurysms, tortuosity and dissection throughout the arterial tree, associated with early-onset osteoarthritis (predominantly affecting the spine, hands and/or wrists, and knees) and mild craniofacial dysmorphism (including long face, high forehead, flat supraorbital ridges, hypertelorism, malar hypoplasia and a raphe, broad or bifid uvula), as well as mild skeletal and cutaneous anomalies. Joint abnormalities, such as osteochondritis dissecans and intervertebral disc degeneration, are frequently associated. Additional cardiovascular anomalies may include mitral valve defects, congenital heart malformations, ventricular hypertrophy and atrial fibrillation.|SNOMEDCT_US|N|
C4760799|A rare mitochondrial DNA maintenance syndrome with characteristics of early-onset cerebellar ataxia and a variable combination of epilepsy, headache, dysarthria, ophthalmoplegia, peripheral neuropathy, intellectual disability, psychiatric symptoms and movement disorders.|SNOMEDCT_US|N|
C4760875|Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare congenital autosomal recessive disease, presenting in children and adolescents, and characterized by progressive scoliosis along with the absence of conjugate horizontal eye movements and associated with failure of the somatosensory and corticospinal neuronal tracts to decussate in the medulla.|ORDO|N|
C4760908|Brachyolmia recessive type is a form of brachyolmia with characteristics of short-trunked short stature with platyspondyly and scoliosis. Corneal opacities and precocious calcification of the costal cartilage are rare syndromic components. Premature pubarche may occur. Mental status and facies are reported to be normal. Some patients are reported to have peripheral punctuate opacities in the cornea found on slit lamp examination (formerly Toledo type). A number of different mutations in the PAPSS2 gene (10q23.2-q23.3) have been reported in affected patients. PAPPS2 encodes PAPS (3''-phosphoadenosine 5''-phosphosulfate) synthase 2. Observed to follow an autosomal recessive pattern of inheritance.|SNOMEDCT_US|N|
C4760934|Thalassemia that results in severe anemia and requires regular blood transfusions for patient survival.|NCI|N|
C4760957|A rare inborn error of zinc metabolism characterised by recurrent infections, hepatosplenomegaly, anaemia (unresponsive to iron supplementation) and chronic systemic inflammation in the presence of high plasma concentrations of zinc and calprotectin. Patients typically present dermal ulcers or other cutaneous manifestations (for example inflammation) and arthralgia. Severe epistaxis and spontaneous haematomas have also been reported.|SNOMEDCT_US|N|
C4760994|Increase in periorbital soft tissue.|HPO|N|
C4761026|A melanoma arising from the ovary.|NCI|N|
C4761149|A rare bone disease with characteristics of spontaneous adult-onset tarsal navicular osteonecrosis. Patients present with chronic mid and hindfoot pain, swelling and tenderness over the dorsomedial aspect of the midfoot, flattening of the medial longitudinal arch, and pes planovarus. Radiographic findings include comma-shaped deformity due to collapse of the lateral part of the navicular bone and medial or dorsal protrusion of a portion or the entire bone. The condition may be bilateral or asymmetric and associated with pathological fractures.|SNOMEDCT_US|N|
C4761157|A chondrosarcoma that arises from hyaline cartilage of the larynx.|NCI|N|
C4761201|A leiomyosarcoma characterized by the presence of poorly differentiated areas with pleomorphic appearance, in addition to areas with typical morphologic features.|NCI|N|
C4761223|Colitis caused by an immune reaction to an antigen, including a therapeutically administered agent.|NCI|N|
C4761226|Gastric carcinoma that has metastasized from its original site of growth to distal anatomic sites or is no longer responding to treatment.|NCI|N|
C4761241|Partial loss of the ability to detect or understand sounds present in an infant within its first month after birth.|NCI|N|
C4761242|Excessive sensitivity or changes in sensitivity in the nipple(s).|NCI|N|
C4761243|Complete loss of the ability to detect or understand sounds present in an infant within its first month after birth.|NCI|N|
C4761284|An umbrella term that comprises the spectrum of squamous neoplasms of the conjunctiva, ranging from low-grade squamous intraepithelial neoplasia to invasive conjunctival squamous cell carcinoma.|NCI|N|
C4761312|A deficiency of a necessary nutrient.|NCI|N|
C4761314|A score of 2 describing mild disease with erythema, fine scale and/or papules involving >20% of the target area.|NCI|N|
C4761316|A change in the nucleotide sequence in a PI3K family gene.|NCI|N|
C4761374|Featureless margin that cleanly demarcates the nodule from surrounding lung with no undulations or irregularities.|NCI|N|
C4761375|Fully opaque attenuation through which no normally arborizing structures are visible.|NCI|N|
C4761377|The presence of two or more linear opacities extending from the nodule margin that taper as their distance from the nodule increases. Use tapering to distinguish from external septal stretching.|NCI|N|
C4761380|The nodule margin blends into adjacent lung without clear demarcation between nodule edge and normal lung (i.e., the entire circumference of the nodule can''t be drawn with confidence). This is to be distinguished from faint (but definable) margination, as with subsolid nodules.|NCI|N|
C4761382|Nodule with both ground-glass and solid components. The solid component corresponds to NO underlying normal anatomy, obscures the underlying lung structures and should measure at least 2 mm. The solid component should be measured in longest dimension.|NCI|N|
C4761387|The nodule margin can be outlined with your pencil. Spiculated margins are not necessarily poorly marginated; ground glass nodules may be well marginated.|NCI|N|
C4761388|A description about the radiologic type of a nodule''s margins.|NCI|N|
C4761389|The margin satisfies none of the other categories or cannot be determined with confidence.|NCI|N|
C4761390|Nodule shape conforming to a roughly spherical shape, independent of spiculations.|NCI|N|
C4761423|A rare variant of invasive lobular breast carcinoma characterized by the presence of histiocyte-like malignant cells with pale cytoplasm forming sheets or linear patterns. Apocrine differentiation may be present. It usually has an aggressive clinical course.|NCI|N|
C4761433|A single giant cell that is created from the fusion of mononuclear cells, or a network of cells that serve a particular purpose.|NCI|N|
C4761449|A score of 4 describing severe disease with confluent erythema and scale and/or papules covering >80% of target area.|NCI|N|
C4761456|A score of 3 describing moderate disease with confluent erythema and scale and/or papules covering >50% of target area.|NCI|N|
C4761489|A score of 0 describing clear skin where residual hyperpigmentation may be present.|NCI|N|
C4761492|Nodule shape conforming to a roughly ovoid shape, in which the perpendicular diameters are dissimilar (there being a long diameter and a short diameter that differ by at least 30 percent).|NCI|N|
C4761513|The reemergence of ependymoma after a period of remission.|NCI|N|
C4761514|The reemergence of giant cell glioblastoma after a period of remission.|NCI|N|
C4761556|A score of 1 describing almost clear skin with light erythema, papules and/or scale involving 0-20% of the target area.|NCI|N|
C4761609|A non-small cell squamous carcinoma of the lung that has spread from its original site of growth to nearby tissues or lymph nodes.|NCI|N|
C4761612|A term that refers to the presence of somatic mutations in bone marrow or peripheral blood cells in individuals who may be cytopenic but do not have morphologic evidence of hematologic neoplasia. Its prevalence rises with age and is found in approximately 10% of individuals aged 70 to 80. It is associated with an increased risk of hematologic neoplasia. Mutations in the DNMT3A, TET2, or ASXL1 genes are usually identified. Approximately 10%-40% of individuals with age-related clonal hematopoiesis will progress to meet the diagnostic criteria for clonal hematopoiesis of indeterminate potential.|NCI|N|
C4761613|Single clear indentation of the nodule surface, resulting in a smooth or sharp concavity along the nodule margin (usually distinguished from lobulated by the fact there is one predominant indentation and the concavity is greater than or equal to 3 mm.|NCI|N|
C4761670|A complex shape has no normally geometric shape and combines multiple more simple shapes. If no classically defined shape applies, the lesion is likely complex.|NCI|N|
C4761675|A response indicating that a questionnaire was not completed due to patient illness.|NCI|N|
C4761676|A change in the nucleotide sequence of the NOTCH4 gene.|NCI|N|
C4763388|An uncommon and potentially fatal intraocular non-Hodgkin lymphoma that involves the uvea, retina, vitreous body, and optic nerve. It is a subset of primary central nervous system non-Hodgkin lymphoma. The majority of cases are diffuse large B-cell lymphomas.|NCI|N|
C4763390|An uncommon and potentially fatal diffuse large B-cell lymphoma that involves the uvea, retina, vitreous body, and optic nerve. It is a subset of primary central nervous system diffuse large B-cell lymphoma.|NCI|N|
C4763391|The reemergence of primary vitreoretinal non-Hodgkin lymphoma after a period of remission.|NCI|N|
C4763392|Primary vitreoretinal non-Hodgkin lymphoma that does not respond to treatment.|NCI|N|
C4763393|The reemergence of primary vitreoretinal diffuse large B-cell lymphoma after a period of remission.|NCI|N|
C4763394|Primary vitreoretinal diffuse large B-cell lymphoma that does not respond to treatment.|NCI|N|
C4763395|The reemergence of primary diffuse large B-cell lymphoma of the central nervous system after a period of remission.|NCI|N|
C4763396|Primary diffuse large B-cell lymphoma of the central nervous system that does not respond to treatment.|NCI|N|
C4763398|The determination by MRI of the presence or absence of neoplastic tissue outside of a circumferential resection margin.|NCI|N|
C4763399|The determination by MRI of the absence of neoplastic tissue outside of a circumferential resection margin.|NCI|N|
C4763421|A blood concentration of prostate specific antigen less than or equal to 50 ng/mL.|NCI|N|
C4763424|The reemergence of paraganglioma after a period of remission.|NCI|N|
C4763425|Paraganglioma that is not amenable to surgical resection.|NCI|N|
C4763427|Adrenal gland pheochromocytoma that is not amenable to surgical resection.|NCI|N|
C4763428|Adrenal gland pheochromocytoma that has spread from its original site of growth to nearby tissues or lymph nodes.|NCI|N|
C4763429|The reemergence of a neuroendocrine neoplasm after a period of remission.|NCI|N|
C4763430|A neuroendocrine neoplasm that does not respond to treatment.|NCI|N|
C4763434|A change in the nucleotide sequence of the PKLR gene.|NCI|N|
C4763435|A point mutation in the PKLR gene that encodes an amino acid substitution in the pyruvate kinase PKLR protein.|NCI|N|
C4763439|An autosomal recessive subtype of hereditary spastic paraplegia caused by mutation(s) in the CAPN1 gene, encoding calpain-1 catalytic subunit.|NCI|N|
C4763440|A record of the individual''s history of exposure to chemicals and/or occupational hazard.|NCI|N|
C4763441|A record of an individual''s history of exposure to ionizing radiation to the head.|NCI|N|
C4763443|An indication that something is indeterminate or unknown.|NCI|N|
C4763444|Portal fibrosis is present.|NCI|N|
C4763445|Fibrosis extends beyond the portal areas and bridging fibrosis is present.|NCI|N|
C4763447|A finding that indicates the amount of alpha-fetoprotein tumor marker in a sample.|NCI|N|
C4763448|An indication that expression or absence of AR in a sample was determined using immunohistochemical staining techniques.|NCI|N|
C4763451|A finding in an esophageal biopsy specimen indicating the diagnosis of Barrett esophagus associated with the presence of metaplastic columnar epithelium containing goblet cells.|NCI|N|
C4763474|An indication that expression or absence of ESR1 in a sample was determined using immunohistochemical staining techniques.|NCI|N|
C4763475|An indication that expression or absence of ESR2 in a sample was determined using immunohistochemical staining techniques.|NCI|N|
C4763479|The process of adding a succinyl radical to an acceptor molecule.|NCI|N|
C4763489|The nucleotide position that is substituted in a nucleic acid variant.|NCI|N|
C4763503|An intermixed ganglioneuroblastoma arising from the adrenal gland.|NCI|N|
C4763504|A nodular ganglioneuroblastoma arising from the adrenal gland.|NCI|N|
C4763505|A ganglioneuroma arising from the adrenal gland.|NCI|N|
C4763506|A neoplasm that combines morphologic characteristics of paraganglioma and neuroectodermal tumors such as neuroblastoma, ganglioneuroma, ganglioneuroblastoma, or peripheral nerve sheath tumor.|NCI|N|
C4763508|A hereditary adrenal gland pheochromocytoma caused by mutations in SDHB, SDHC, and SDHD genes.|NCI|N|
C4763519|A group of disorders with overlapping phenotypes caused by mutation(s) of the POLG gene, encoding DNA polymerase subunit gamma-1. Phenotypic variations include Alpers-Huttenlocher syndrome (AHS), childhood myocerebrohepatopathy spectrum (MCHS), myoclonic epilepsy myopathy sensory ataxia (MEMSA), ataxia neuropathy spectrum (ANS), autosomal recessive progressive external ophthalmoplegia (arPEO), and autosomal dominant progressive external ophthalmoplegia (adPEO).|NCI|N|
C4763526|A semi-quantitative microscopic finding indicating that at least 0.1 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.|NCI|N|
C4763539|Skin squamous cell carcinoma that is not amenable to surgical resection.|NCI|N|
C4763542|Skin carcinoma that is not amenable to surgical resection.|NCI|N|
C4763546|Basal cell carcinoma that is not amenable to surgical resection.|NCI|N|
C4763547|Basal cell carcinoma of the skin that is not amenable to surgical resection.|NCI|N|
C4763549|A malignant solid neoplasm that arises from any anatomic site other than the brain and has spread from its original site of growth to another anatomic site.|NCI|N|
C4763550|A malignant solid neoplasm that arises from any anatomic site other than the brain and has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C4763551|An adenovirus infection that does not respond to treatment.|NCI|N|
C4763555|A condition caused by a B-cell or plasma cell clone resulting in the deposition of the secreted monoclonal immunoglobulin, without evidence for overt lymphoma or myeloma. This category includes a wide spectrum of renal pathology and include such lesions as immunoglobulin-associated amyloidosis, the monoclonal immunoglobulin deposition diseases (MIDDs; light chain deposition disease, heavy chain deposition disease, and light and heavy chain deposition disease), proliferative glomerulonephritis with monoclonal immunoglobulin deposits (PGNMID), C3 glomerulopathy with monoclonal gammopathy, light chain proximal tubulopathy (Fanconi syndrome), and several others.|NCI|N|
C4763559|A tumor mass finding that refers to a continuum between resectable and locally advanced unresectable disease.|NCI|N|
C4763562|A pancreatic ductal adenocarcinoma term that refers to a continuum between resectable and locally advanced unresectable disease.|NCI|N|
C4763566|An adenocarcinoma that originates from the colorectal area and has spread to the liver.|NCI|N|
C4763570|A squamous non-small cell carcinoma that arises from the lung and has metastasized to another anatomic site.|NCI|N|
C4763571|A carcinoma that originates from the colorectal area and has spread to the liver.|NCI|N|
C4763572|A semi-quantitative microscopic finding indicating that at least 30 percent of the nucleated cells in a bone marrow sample are neoplastic plasma cells.|NCI|N|
C4763578|A finding that indicates the amount of testosterone in a sample.|NCI|N|
C4763579|A semiquantitative finding indicating that the concentration of testosterone in a sample is less than 50 ng/dL.|NCI|N|
C4763580|A change in the nucleotide sequence of the CCND2 gene.|NCI|N|
C4763581|A change in the nucleotide sequence of the CDK6 gene.|NCI|N|
C4763582|A change in the nucleotide sequence of the CCND3 gene.|NCI|N|
C4763583|A change in the nucleotide sequence of the CCNE1 gene.|NCI|N|
C4763586|An extremely rare finding in hematologic malignancies indicating an association with BCR-JAK2 fusion gene that results from t(9;22)(p24;q11.2). Most cases exhibit chronic myelogenous leukemia-type phenotype.|NCI|N|
C4763590|An indication that a specified drug was used during a visit.|NCI|N|
C4763591|An indication that a specified drug was used during the time since the last visit.|NCI|N|
C4763597|A disease treatment qualifier indicating that a tumor can neither be described as resectable or unresectable, often applied when a tumor is located near vital structures (such as blood vessels).|NCI|N|
C4763598|A semiquantitative finding indicating that the concentration of testosterone in a sample is greater than or equal to 200 ng/dL.|NCI|N|
C4763601|An indication that an individual currently uses oral contraceptives.|NCI|N|
C4763603|An indication that the information was not evaluated, not provided or available.|NCI|N|
C4763607|A finding that indicates the amount of carbohydrate associated antigen (CA19.9) in a sample.|NCI|N|
C4763608|A finding that indicates the international normalized ratio of prothrombin time level in a sample.|NCI|N|
C4763609|A finding that indicates the amount of total bilirubin in a sample.|NCI|N|
C4763610|A finding that indicates the amount of total thyroxine in a sample.|NCI|N|
C4763611|A finding that indicates the amount of carcinoembryonic antigen (CEA) in a serum sample.|NCI|N|
C4763612|A finding that indicates the amount of carbohydrate associated antigen (CA19.9) in a serum sample.|NCI|N|
C4763615|An alteration in the motor/movement of an individual.|NCI|N|
C4763616|The month and the year of the diagnosis.|NCI|N|
C4763617|The finding of whether an individual is infected with the H.pylori bacteria.|NCI|N|
C4763618|A question about whether the parents, siblings or children of an individual have a history of cancer.|NCI|N|
C4763619|Parents, siblings or children of an individual have a history of esophageal or gastric esophageal cancer.|NCI|N|
C4763622|A viral load assay of the Epstein-Barr virus which may be an indicator of disease status.|NCI|N|
C4763624|An indication that an individual has been clinically diagnosed with gastric reflux disease.|NCI|N|
C4763626|A hemangioblastoma that arises from peripheral nerves or extraneural tissues.|NCI|N|
C4763627|A change in the nucleotide sequence of the SDHAF2 gene.|NCI|N|
C4763628|A squamous cell carcinoma that has spread from its original site of growth to the cervical lymph nodes.|NCI|N|
C4763631|A change in the nucleotide sequence of the GCGR gene.|NCI|N|
C4763633|Hyperplasia of the alpha cells of the pancreas.|NCI|N|
C4763635|Mahvash disease (MVAH) is an autosomal recessive disorder caused by inactivating mutations in the glucagon receptor, leading to alpha-cell hyperplasia of the pancreas, hyperglucagonemia without glucagonoma syndrome, and occasional hypoglycemia. The disease may lead to glucagonomas and/or primitive neuroectodermal tumors (PNETs).|OMIM|N|
C4763636|A change in the nucleotide sequence of the ARID1A gene.|NCI|N|
C4763637|A change in the nucleotide sequence of the XRCC2 gene.|NCI|N|
C4763641|An indication that an individual did something, or something occurred, 100 percent of the time.|NCI|N|
C4763642|An indication that an individual did something, or something occurred, between 95 and 99 percent of the time.|NCI|N|
C4763643|An indication that an individual did something, or something occurred, between 75 and 94 percent of the time.|NCI|N|
C4763644|An indication that an individual did something, or something occurred, less than 75 percent of the time.|NCI|N|
C4763645|The reemergence of monomorphic post-transplant lymphoproliferative disorder after a period of remission.|NCI|N|
C4763646|A monomorphic post-transplant lymphoproliferative disorder that does not respond to treatment.|NCI|N|
C4763647|The reemergence of polymorphic post-transplant lymphoproliferative disorder after a period of remission.|NCI|N|
C4763648|A polymorphic post-transplant lymphoproliferative disorder that does not respond to treatment.|NCI|N|
C4763661|Castration-resistant prostate carcinoma which is refractory to second-generation androgen receptor axis-targeted agents, namely abiraterone and enzalutamide.|NCI|N|
C4763662|A finding indicating that a castration-resistant prostate carcinoma is refractory to second-generation androgen receptor axis-targeted agents.|NCI|N|
C4763666|The quantity of hepatitis b virus surface antibody in a sample.|NCI|N|
C4763667|Histiocytic sarcoma occurring in a cat.|NCI|N|
C4763668|The determination of the genotype of hepatitis c virus in a blood sample.|NCI|N|
C4763669|The viral load of hepatitis b virus DNA units in a blood sample.|NCI|N|
C4763670|The determination of the genotype of hepatitis b virus in a blood sample.|NCI|N|
C4763672|Clinical, laboratory or molecular evidence, or absence of evidence of a non-neoplastic disease.|NCI|N|
C4763673|A finding indicating the presence of a high risk bladder urothelial carcinoma that does not invade muscle.|NCI|N|
C4763674|A finding indicating the reemergence of high risk non-muscle invasive bladder urothelial carcinoma after a period of remission.|NCI|N|
C4763677|An indication that the treatment regimen used is not known.|NCI|N|
C4763678|An indication of the type of therapy used during a visit.|NCI|N|
C4763679|An indication of the type of therapy used since the last visit.|NCI|N|
C4763699|A change in the nucleotide sequence of the ARHGAP45 gene.|NCI|N|
C4763700|A nucleotide substitution at position 416 of the coding sequence of the ARHGAP45 gene where guanine has been mutated to adenine.|NCI|N|
C4763701|A variation in the amino acid sequence for Rho GTPase-activating protein 45.|NCI|N|
C4763702|A change in the amino acid residue at position 139 in Rho GTPase-activating protein 45 where arginine has been replaced by histidine.|NCI|N|
C4763703|A change in the nucleotide sequence in a CDK family gene.|NCI|N|
C4763708|The presence of mutations in both alleles of the CEBPA gene.|NCI|N|
C4763710|Expression of a fusion protein involving the human genes PCM1 and JAK2. It results from a translocation and is associated with myeloid and lymphoid cancers.|NCI|N|
C4763711|A molecular abnormality indicating rearrangement of the JAK2 gene.|NCI|N|
C4763712|Anal canal or perianal skin intraepithelial neoplasia with mild dysplasia.|NCI|N|
C4763715|A change in the nucleotide sequence of the MAGT1 gene.|NCI|N|
C4763716|A change in the nucleotide sequence of the PTEN gene that that results in constitutive activation of both phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN and its downstream signaling pathways.|NCI|N|
C4763720|A finding indicating elevated concentrations of DKK1 in a sample.|NCI|N|
C4763722|A change in the nucleotide sequence of the IRAK1 gene.|NCI|N|
C4763727|A change in the nucleotide sequence of the TYK2 gene.|NCI|N|
C4763728|A change in the nucleotide sequence of the JAK2 gene that that results in constitutive activation of both tyrosine-protein kinase JAK2 and its downstream signaling pathways.|NCI|N|
C4763729|A change in the nucleotide sequence of the MYD88 gene that that results in constitutive activation of both myeloid differentiation primary response protein MyD88 and its downstream signaling pathways.|NCI|N|
C4763730|A change in the nucleotide sequence of the IRAK1 gene that that results in constitutive activation of both interleukin-1 receptor-associated kinase 1 protein and its downstream signaling pathways.|NCI|N|
C4763731|A change in the nucleotide sequence of the TYK2 gene that that results in constitutive activation of both non-receptor tyrosine-protein kinase TYK2 protein and its downstream signaling pathways.|NCI|N|
C4763733|A neuroendocrine neoplasm that arises from the lung and has spread to another anatomic site.|NCI|N|
C4763734|Single nucleotide polymorphisms (SNPs) or short nucleotide insertions (ins), deletions (del) or indels that originate in cells that are not destined to become gametes and are not passed on to progeny.|NCI|N|
C4763736|Dysplasia in Barrett esophagus that is resistant to treatment.|NCI|N|
C4763738|An untoward event that can be attributed to care received during a medical/surgical event.|NCI|N|
C4763739|A death that is attributed to an excessive amount of a substance.|NCI|N|
C4763740|A death that is attributed to excessive alcohol ingestion.|NCI|N|
C4763742|A morphologic finding indicating the presence of variably-sized cysts filled with clear, serous, or gelatinous fluid in a tissue sample.|NCI|N|
C4763743|A clear cell renal cell carcinoma that is associated with a mutation in BAP1 gene. These tumors are typically high grade and associated with poor outcome.|NCI|N|
C4763744|Events of undetermined intent and their sequelae other than those otherwise specified.|NCI|N|
C4763745|Unspecified infectious and parasitic diseases and their sequelae other than those otherwise specified.|NCI|N|
C4763746|A header term for symptoms, signs and abnormal clinical and laboratory findings that is not elsewhere classified.|NCI|N|
C4763749|Fallopian tube carcinoma that progresses between one and six months of completing the last platinum therapy.|NCI|N|
C4763750|Primary peritoneal carcinoma that progresses between one and six months of completing the last platinum therapy.|NCI|N|
C4763751|Histologic transformation of an indolent chronic lymphocytic leukemia to an aggressive diffuse large B-cell lymphoma.|NCI|N|
C4763752|A molecular abnormality that results in monoallelic loss of function mutations located within the short arm of chromosome 1 (1p).|NCI|N|
C4763753|A molecular abnormality that results in monoallelic loss of function mutations located within the long arm of chromosome 5 (5q).|NCI|N|
C4763754|A molecular abnormality that results in monoallelic loss of function mutations located within chromosome 6.|NCI|N|
C4763755|A molecular abnormality that results in monoallelic loss of function mutations located within chromosome 8.|NCI|N|
C4763761|A urothelial carcinoma that has spread from its original site of growth to nearby tissues or lymph nodes.|NCI|N|
C4763762|An adenoid cystic carcinoma that has spread from the original site of growth to other anatomic sites.|NCI|N|
C4763763|The reemergence of adenoid cystic carcinoma after a period of remission.|NCI|N|
C4763764|A molecular abnormality that results in monoallelic loss of function mutations located within chromosome 10.|NCI|N|
C4763765|A molecular abnormality that results in monoallelic loss of function mutations located within chromosome 11.|NCI|N|
C4763766|A molecular abnormality that results in monoallelic loss of function mutations located within chromosome 15.|NCI|N|
C4763767|A molecular abnormality that results in monoallelic loss of function mutations located within chromosome 18.|NCI|N|
C4763768|A molecular abnormality that results in monoallelic loss of function mutations located within chromosome 22.|NCI|N|
C4763769|A finding indicating that a sample has normal concentrations of unmutated mismatch repair proteins and is either microsatellite stable or has low microsatellite instability.|NCI|N|
C4763773|A semi-quantitative microscopic finding indicating that at least 0.01 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.|NCI|N|
C4763776|Lymphoma that is not amenable to surgical resection.|NCI|N|
C4763777|Focal increased opacity through which normal parenchymal structures (airways and vessels) can be seen. If, on lung windows, there is a solid component of greater than or equal to 2 mm that is not vascular or airway, the nodule is not pure ground glass. Visibility of normal underlying interstitium is acceptable.|NCI|N|
C4763778|Nodule with dense (high) attenuation through which some normal underlying structures are visible. Semiconsolidation may appear as subsolid lung attenuation with thickened underlying reticulation or bronchovascular anatomy. In some instances, it may be challenging to distinguish the nodule from pGGNs or PSNs. The nodule is PSN if there is any solid component greater than 2 mm that is not underlying lung.|NCI|N|
C4763780|Smooth or roughly undulating margin in which two or more regions of the nodule extend out from the adjacent surface but having a broader base and smoother convexity than serrations. Lobulations may be subtle. If the nodule has lobulations that are serrated or spiculated, it should be classified as serrated/spiculated.|NCI|N|
C4763781|A jagged, ragged, saw-tooth appearance in which individual extensions extend less than 3 mm from adjacent margins. Do NOT include subtle tenting if only observed at the site of external septal stretching.|NCI|N|
C4763782|T-cell/histiocyte-rich large B-cell lymphoma that is resistant to treatment.|NCI|N|
C4763783|The reemergence of primary effusion lymphoma after a period of remission.|NCI|N|
C4763784|Primary effusion lymphoma that is resistant to treatment.|NCI|N|
C4763785|The reemergence of primary lymphoma of bone after a period of remission.|NCI|N|
C4763786|Primary lymphoma of bone that is resistant to treatment.|NCI|N|
C4763787|The reemergence of plasmablastic lymphoma after a period of remission.|NCI|N|
C4763788|Plasmablastic lymphoma that is resistant to treatment.|NCI|N|
C4763790|Lymphoproliferative disorder that is resistant to treatment.|NCI|N|
C4763793|The reemergence of NK-cell lymphoma, unclassifiable after a period of remission.|NCI|N|
C4763794|NK-cell lymphoma, unclassifiable that is resistant to treatment.|NCI|N|
C4763795|T-cell prolymphocytic leukemia that is resistant to treatment.|NCI|N|
C4763796|The reemergence of aggressive NK-cell leukemia after a period of remission.|NCI|N|
C4763797|Aggressive NK-cell leukemia that is resistant to treatment.|NCI|N|
C4763798|Monomorphic epitheliotropic intestinal T-cell lymphoma that is resistant to treatment.|NCI|N|
C4763799|The reemergence of subcutaneous panniculitis-like T-cell lymphoma after a period of remission.|NCI|N|
C4763800|Subcutaneous panniculitis-like T-cell lymphoma that is resistant to treatment.|NCI|N|
C4763801|B-cell prolymphocytic leukemia that is resistant to treatment.|NCI|N|
C4763805|A morphologic finding where the cells proliferate and give a net-like appearance to the lesion showing multiple spaces of varying sizes in between the cells.|NCI|N|
C4763806|A morphologic finding where cells show numerous small cyst-like spaces that vary in size creating a sieve-like appearance.|NCI|N|
C4763810|A morphologic finding indicating the presence of malignant epithelial cells with cytoplasmic vacuoles or flocculent cytoplasmic inclusions containing wispy eosinophilic material giving a bubbly appearance.|NCI|N|
C4763812|A morphologic finding where the malignant cell has intra or intercytoplasmic lumina thereby imparting a cribriform or sieve-like architecture.|NCI|N|
C4763819|Epworth Sleepiness Scale (ESS) Total score.|NCI|N|
C4763820|A synovial sarcoma arising from the kidney.|NCI|N|
C4763821|A morphologic finding indicating the transformation of non-smooth muscle cells to smooth muscle cells.|NCI|N|
C4763823|An epithelial neoplasm with neuroendocrine differentiation that arises from the kidney. It includes neuroendocrine tumor, small cell neuroendocrine carcinoma, large cell neuroendocrine carcinoma, and paraganglioma.|NCI|N|
C4763824|A cystic nephroma that occurs in very young children.|NCI|N|
C4763826|Any gain, loss, or exchange of DNA that results in monoallelic loss of function mutations in the TSC2 gene.|NCI|N|
C4763827|A neoplasm arising from the distal convoluted tubule and collecting duct areas of the kidney.|NCI|N|
C4763828|Bladder squamous cell carcinoma that has spread to another anatomical site.|NCI|N|
C4763829|Bladder plasmacytoid urothelial carcinoma that has spread to another anatomic site.|NCI|N|
C4763830|A change in the nucleotide sequence of the HOXB13 gene.|NCI|N|
C4763831|Bladder lipid-rich urothelial carcinoma that has spread to another anatomic site.|NCI|N|
C4763832|Kidney medullary carcinoma that has spread to another anatomical site.|NCI|N|
C4763833|A change in the nucleotide sequence of the HOXB13 gene that originates in the gametes.|NCI|N|
C4763834|Sarcomatoid renal cell carcinoma that has spread to another anatomical site.|NCI|N|
C4763835|A neuroendocrine neoplasm that arises from the bladder.|NCI|N|
C4763836|Bladder large cell neuroendocrine carcinoma that has spread to another anatomical site.|NCI|N|
C4763837|Bladder small cell neuroendocrine carcinoma that has spread to another anatomic site.|NCI|N|
C4763838|Prostate small cell neuroendocrine carcinoma that has spread to another anatomic site.|NCI|N|
C4763839|Bladder micropapillary urothelial carcinoma that has spread to another anatomic site.|NCI|N|
C4763840|Bladder clear cell (glycogen-rich) urothelial carcinoma that has spread to another anatomic site.|NCI|N|
C4763841|Bladder giant cell urothelial carcinoma that has spread to another anatomic site.|NCI|N|
C4763842|Bladder nested urothelial carcinoma that has spread to another anatomic site.|NCI|N|
C4763846|A malignant neoplasm that arises from the genitourinary system and has metastasized to other anatomic sites.|NCI|N|
C4763852|A new infection by the hepatitis E virus, which is usually spread by the fecal-oral route. Signs and symptoms may include fever, fatigue, loss of appetite, nausea, vomiting, abdominal pain, jaundice, dark urine, clay-colored stools and joint pain. There is no specific anti-viral treatment, the infection resolves on its own.|NCI|N|
C4763854|The use of amphetamines that results in the development of a dependency that adversely affects an individual''s life.|NCI|N|
C4763864|Longstanding kidney disease as a complication of diabetes.|NCI|N|
C4763866|Cirrhosis of the liver that develops as a sequelae of a hepatitis b infection.|NCI|N|
C4763867|Cirrhosis of the liver that develops as a sequelae of a hepatitis c infection.|NCI|N|
C4763868|The use of cocaine that results in the development of a dependency that adversely affects an individual''s life.|NCI|N|
C4763872|A disease that can be transmitted from one individual to another.|NCI|N|
C4763882|A pathotype of Escherichia coli, which is a gram-negative bacteria that is transmitted through the fecal-oral route. It has an incubation period of 9-12 hours and a duration of 12 days. Symptoms may include persistent severe acute diarrhea.|NCI|N|
C4763883|A pathotype of Escherichia coli, which is a gram-negative bacteria that is transmitted through the fecal-oral route. It has an incubation period of 10-72 hours and a duration of 1-5 days. Symptoms may include acute, occasionally severe diarrhea without fever.|NCI|N|
C4763895|Meningitis that is attributed to the bacteria H influenze type B.|NCI|N|
C4763896|Pneumonia that is attributed to the bacteria H influenze type B.|NCI|N|
C4763925|Uncontrolled bleeding from a pregnant or a woman who has recently given birth.|NCI|N|
C4763939|A disease of the intestines that is inflammatory but not infectious.|NCI|N|
C4763940|Any stroke that is not related to an obstructed blood vessel.|NCI|N|
C4763953|A complication related to a premature birth that occurs to a baby born prior to 37 weeks gestation.|NCI|N|
C4763961|A chlamydial infection that was sexually transmitted.|NCI|N|
C4763994|An angiomyolipoma that arises from the kidney and is composed exclusively or predominantly of epithelioid cells. It is often associated with cytologic atypia and may recur or metastasize.|NCI|N|
C4764000|Degree of HLA match is 4/8 alleles with fewer than 2 mismatches per locus at HLA-A, -B, -C and -DRB1.|NCI|N|
C4764001|Degree of HLA match is 5/8 alleles with fewer than 2 mismatches per locus at HLA-A, -B, -C and -DRB1.|NCI|N|
C4764002|Degree of HLA match is 6/8 alleles with fewer than 2 mismatches per locus at HLA-A, -B, -C and -DRB1.|NCI|N|
C4764003|Degree of HLA Match is 7/8 alleles with a single HLA locus mismatch at HLA-A, -B, -C or DRB1.|NCI|N|
C4764004|Complete HLA matching for HLA-A, -B, -C, and -DRB1 loci.|NCI|N|
C4764006|A family of tumors ranging from predominantly cystic tumors (adult cystic nephromas) to tumors that are variably solid (mixed epithelial and stromal tumors) and contain biphasic epithelial and stromal components with spindle stroma, glands, and cysts. Most of these tumors are benign. (WHO 2016).|NCI|N|
C4764011|A nucleotide substitution at position 1436 of the coding sequence of the PKLR gene where guanine has been mutated to adenine.|NCI|N|
C4764012|A variation in the amino acid sequence for pyruvate kinase PKLR protein.|NCI|N|
C4764013|A change in the amino acid residue at position 479 in the pyruvate kinase PKLR protein where arginine has been replaced by histidine.|NCI|N|
C4764014|A change in the nucleotide sequence of the NTRK2 gene.|NCI|N|
C4764015|A change in the nucleotide sequence of the NTRK3 gene.|NCI|N|
C4764016|A semi-quantitative microscopic finding indicating that at least 20 percent of the nucleated cells in a peripheral leukocyte sample are neoplastic plasma cells.|NCI|N|
C4764017|A change in the nucleotide sequence of the NOTCH3 gene.|NCI|N|
C4764018|A change in the nucleotide sequence of the NOTCH3 gene that that results in constitutive activation of both neurogenic locus notch homolog protein 3 and its downstream signaling pathways.|NCI|N|
C4764019|A change in the nucleotide sequence of the NOTCH2 gene that that results in constitutive activation of both neurogenic locus notch homolog protein 2 and its downstream signaling pathways.|NCI|N|
C4764020|A change in the nucleotide sequence of the NOTCH4 gene that that results in constitutive activation of both neurogenic locus notch homolog protein 4 and its downstream signaling pathways.|NCI|N|
C4764021|A change in the nucleotide sequence of the NOTCH1 gene that that results in constitutive activation of both neurogenic locus notch homolog protein 1 and its downstream signaling pathways.|NCI|N|
C4764022|A change in the nucleotide sequence of the CTNNA1 gene.|NCI|N|
C4764023|A semi-quantitative microscopic finding indicating that more than 25 percent of the nucleated cells in a bone marrow sample are lymphoma-derived cells.|NCI|N|
C4764027|A molecular abnormality indicating rearrangement of the FGFR3 gene.|NCI|N|
C4764032|The reemergence of a B-cell prolymphocytic leukemia after a period of remission.|NCI|N|
C4764039|A digestive system neuroendocrine neoplasm that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C4764040|A digestive system neuroendocrine neoplasm that has spread from its original site of growth to nearby tissues or lymph nodes and is not amenable to surgical resection.|NCI|N|
C4764050|Cholangiocarcinoma that is resistant to treatment.|NCI|N|
C4764052|WHO grade 2 glioma that is resistant to treatment.|NCI|N|
C4764053|A genetic finding indicating an excess of DNA methylation in the promoter region of the RASSF1 gene.|NCI|N|
C4764054|A genetic finding indicating an excess of DNA methylation in the promoter region of the CDH1 gene.|NCI|N|
C4764055|A genetic finding indicating an excess of DNA methylation in the promoter region of the EDNRB gene.|NCI|N|
C4764057|A molecular genetic abnormality indicating the presence of multiple copies of the E2F3 gene.|NCI|N|
C4764073|An indication that greater than 75% of cells in a sample demonstrate preferential inactivation of the same X chromosome.|NCI|N|
C4764074|A change in the nucleotide sequence of the PAX5 gene.|NCI|N|
C4764075|A variation in the amino acid sequence for paired box protein Pax-5.|NCI|N|
C4764076|A nucleotide substitution at position 239 of the coding sequence of the PAX5 gene where cytosine has been mutated to guanine.|NCI|N|
C4764077|A change in the amino acid residue at position 80 in paired box protein Pax-5 where proline has been replaced by arginine.|NCI|N|
C4764078|A nucleotide substitution at position 547 of the coding sequence of the PAX5 gene where guanine has been mutated to adenine.|NCI|N|
C4764079|A variation in the amino acid sequence for DNA-binding protein Ikaros.|NCI|N|
C4764080|A change in the amino acid residue at position 159 in DNA-binding protein Ikaros where asparagine has been replaced by tyrosine.|NCI|N|
C4764082|The reemergence of B-cell non-Hodgkin lymphoma transformed after a period of remission.|NCI|N|
C4764083|An indolent B-cell non-Hodgkin lymphoma which has undergone histologic transformation to an aggressive B-cell non-Hodgkin lymphoma and has become resistant to treatment.|NCI|N|
C4764084|The reemergence of chronic lymphocytic leukemia transformed to aggressive diffuse large B-cell lymphoma (Richter''s transformation) after a period of remission.|NCI|N|
C4764085|Chronic lymphocytic leukemia which has undergone histologic transformation to an aggressive diffuse large B-cell lymphoma (Richter''s transformation) and has become resistant to treatment.|NCI|N|
C4764115|A microscopic measurement of the volumetric or area ratios of components of tissues or organs. (Chalkley HW. Method for the quantitative morphological analysis of tissues. J Natl Cancer Inst; 4: 47-52)|NCI|N|
C4764116|An indication as to whether the pre-specified mutations of interest are present in the subject.|NCI|N|
C4764145|An indication as to whether the subject was challenged with more than one challenge agent from a different challenge agent category.|NCI|N|
C4764146|An indication as to whether the subject was challenged with more than one challenge agent from the same challenge agent category.|NCI|N|
C4764152|An indication as to whether the biological challenge agent is engineered rather than naturally occurring.|NCI|N|
C4764153|An indication as to whether a certificate of analysis exists for the challenge agent.|NCI|N|
C4764157|An indication as to whether the genetic sequence of the challenge agent has been identified.|NCI|N|
C4764159|An indication as to whether the working bank or primary stock was characterized by molecular or biological techniques.|NCI|N|
C4764162|An indication as to whether a metabolite of the chemical challenge agent is known to cause or contribute to the injury or condition of interest.|NCI|N|
C4764164|An indication as to whether there is more than one type of ionizing radiation associated with the rad/nuc challenge.|NCI|N|
C4764168|Increased number of macrophages in the terminal air spaces.|NCI|N|
C4764169|Increased number and/or size of granules in the cytoplasm of cells.|NCI|N|
C4764170|Decreased number and/or size of peri-insular halos.|NCI|N|
C4764171|Increased number and/or size of peri-insular halos.|NCI|N|
C4764172|Decrease in Paneth cell granules and loss of Paneth cells within the small intestine.|NCI|N|
C4764173|Decreased secretory content (e.g., mucus or granules) in secretory cells.|NCI|N|
C4764174|Increased number of atretic follicles.|NCI|N|
C4764175|Decreased number or total absence of follicles.|NCI|N|
C4764179|A description of when the neutering event took place, relative to the subject''s sexual maturation status.|NCI|N|
C4764180|An indication as to whether the study subject has had its major histocompatibility complex characterized.|NCI|N|
C4764181|An indication as to whether the study subject has been in a previous study.|NCI|N|
C4764182|An indication as to whether the animal(s) has been neutered.|NCI|N|
C4764183|An indication as to whether the subject was telemeterized during the treatment or assessment.|NCI|N|
C4764192|An indication as to whether the animal received antimicrobials or acidified/chlorinated water during husbandry.|NCI|N|
C4764195|An indication as to whether the study was performed using a qualified animal model.|NCI|N|
C4764196|An indication as to whether the subjects have been shown to be free of a specific pathogen.|NCI|N|
C4764197|An indication as to whether the study or set contains test subjects that have been genetically modified in some way (e.g., transgenic knock-in, knock-down, etc.).|NCI|N|
C4764198|An indication as to whether the study includes a pharmacokinetic assessment.|NCI|N|
C4764199|An indication as to whether the challenge agent is administered by more than one route for any animal(s).|NCI|N|
C4764202|A non-invasive neoplasm that arises from the urothelial lining of the bladder.|NCI|N|
C4764206|Endometrial serous adenocarcinoma that is resistant to treatment.|NCI|N|
C4764207|Endometrial mixed cell adenocarcinoma that is resistant to treatment.|NCI|N|
C4764208|Endometrial clear cell adenocarcinoma that is resistant to treatment.|NCI|N|
C4764209|Uterine Corpus Carcinosarcoma that is resistant to treatment.|NCI|N|
C4764210|Papillary urothelial neoplastic proliferation in the bladder with some level of cytological and architectural disorder visible at low to intermediate magnification, with no invasion beyond the basement membrane (Ta). (WHO 2016)|NCI|N|
C4764211|Uterine corpus carcinosarcoma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C4764213|A morphologic finding indicating the presence of marked thickening of the urothelium in the bladder.|NCI|N|
C4764216|A paraganglioma that does not respond to treatment.|NCI|N|
C4764217|A pheochromocytoma that does not respond to treatment.|NCI|N|
C4764225|The reemergence of desmoplastic small round cell tumor after a period of remission.|NCI|N|
C4764226|Desmoplastic small round cell tumor that is resistant to treatment.|NCI|N|
C4764227|The reemergence of fibrosarcoma after a period of remission.|NCI|N|
C4764228|Fibrosarcoma that is resistant to treatment.|NCI|N|
C4764229|The reemergence of spindle cell sarcoma after a period of remission.|NCI|N|
C4764230|Spindle cell sarcoma that is resistant to treatment.|NCI|N|
C4764238|A salivary gland carcinoma that has metastasized to another anatomic site.|NCI|N|
C4764239|A salivary gland carcinoma that has spread to nearby tissues or lymph nodes.|NCI|N|
C4764241|An indication that the cells in sample have cell surface expression of antibody-detectable amounts of a specific membrane-bound fragment of the mucin-1 protein (MUC1), which results from extramembrane cleavage, has growth factor receptor-like activity and is comprised of the cytoplasmic tail, the transmembrane domain and at least forty-five amino acids of the extracellular domain.|NCI|N|
C4764242|Complete HLA matching for HLA-A, -B, -C, -DRB1, and -DQB1 loci.|NCI|N|
C4764243|Complete HLA matching for HLA-A,-B,-C,-DRB1,-DQB1, and -DP loci.|NCI|N|
C4764244|Degree of HLA match is 9/10 for HLA-A, -B, -C, -DRB1, and -DQB1 loci.|NCI|N|
C4764245|Degree of HLA match is 8/10 for HLA-A, -B, -C, -DRB1, and -DQB1 loci.|NCI|N|
C4764246|Degree of HLA match is 7/10 for HLA-A, -B, -C, -DRB1, and -DQB1 loci.|NCI|N|
C4764247|Degree of HLA match is 6/10 for HLA-A, -B, -C, -DRB1, and -DQB1 loci.|NCI|N|
C4764248|Degree of HLA match is 5/10 for HLA-A, -B, -C, -DRB1, and -DQB1 loci.|NCI|N|
C4764249|Complete HLA matching for HLA-A, -B and -DRB1 loci.|NCI|N|
C4764250|Indicates a body mass index measurement of 25 or higher.|NCI|N|
C4764253|A change in the nucleotide sequence of the BCL2 gene.|NCI|N|
C4764254|Lung small cell carcinoma that is resistant to platinum therapy.|NCI|N|
C4764256|Lung small cell carcinoma that is sensitive to platinum therapy.|NCI|N|
C4764257|Refers to the presence or absence of androgen receptor molecules on the surface of the cells in a specimen.|NCI|N|
C4764275|A finding of non-Hodgkin lymphoma that is not growing and responds to treatment.|NCI|N|
C4764276|A clinical assessment or impression by direct observation indicating whether or not a patient has a condition of jaundice (is jaundiced).|NCI|N|
C4764277|Urethral urothelial carcinoma that is not amenable to surgical resection.|NCI|N|
C4764278|Bladder urothelial carcinoma that is not amenable to surgical resection.|NCI|N|
C4764279|Ureter urothelial carcinoma that is not amenable to surgical resection.|NCI|N|
C4764280|Renal pelvis urothelial carcinoma that is not amenable to surgical resection.|NCI|N|
C4764322|The determination by MRI of the presence of neoplastic tissue outside of a circumferential resection margin.|NCI|N|
C4764325|A finding in an esophageal biopsy specimen indicating the diagnosis of Barrett esophagus associated with the presence of metaplastic non-goblet cell columnar epithelium.|NCI|N|
C4764335|A response indicating that a questionnaire was not completed due to institutional error.|NCI|N|
C4764341|Anal canal or perianal skin intraepithelial neoplasia with moderate dysplasia.|NCI|N|
C4764342|A change in the nucleotide sequence of the JAK3 gene that that results in constitutive activation of both tyrosine-protein kinase JAK3 and its downstream signaling pathways.|NCI|N|
C4764344|A nodule having either spiculated or serrated margin characteristics.|NCI|N|
C4764345|Bladder sarcomatoid urothelial carcinoma that has spread to another anatomical site.|NCI|N|
C4764356|A digestive system neuroendocrine neoplasm that is resistant to treatment.|NCI|N|
C4764361|A change in the amino acid residue at position 183 in paired box protein Pax-5 where glycine has been replaced by serine.|NCI|N|
C4764393|A nodular lesion that develops in the chest wall.|NCI|N|
C4764394|Histologic transformation of a small lymphocytic lymphoma to an aggressive diffuse large B-cell lymphoma.|NCI|N|
C5139035|Reduced level of the enzyme beta-glucosidase, an enzyme that catalyzes the hydrolysis of glucosylceramide into ceramide and glucose.|HPO|N|
C5139036|Defects in the lysosomal glycosidases or specific co-activators, result in accumulation of the substrates, such as glycosphingolipids, including gangliosides in GM1 gangliosidosis (Tay-Sachs disease) and GM2 gangliosidosis (Sandhoff disease).|HPO|N|
C5139037|Any deviation from the normal concentration of a purine in the blood circulation.|HPO|N|
C5139038|Any deviation from the normal concentration of a pyrimidine in the blood circulation.|HPO|N|
C5139039|Any deviation from the normal concentration of a carboxylic acid in the blood circulation.|HPO|N|
C5139040|Any deviation from the normal circulation of leucine in the blood circulation.|HPO|N|
C5139042|Any deviation from the normal concentration of a branched chain family amino acid in the blood circulation.|HPO|N|
C5139043|Any deviation from the normal concentration of glycine in the blood circulation.|HPO|N|
C5139044|Any deviation from the normal concentration of an aspartate family amino acid in the blood circulation.|HPO|N|
C5139045|Any deviation from the normal concentration of a glutamine family amino acid in the blood circulation.|HPO|N|
C5139046|Any deviation from the normal concentration of glutamine in the blood circulation.|HPO|N|
C5139047|Any deviation from the normal concentration of proline or a proline metabolite in the blood circulation.|HPO|N|
C5139048|Any deviation from the normal concentration of isoleucine in the blood circulation.|HPO|N|
C5139049|Any deviation from the normal concentration of tyrosine in the blood circulation.|HPO|N|
C5139050|An abnormality of a cysteine metabolic process.|HPO|N|
C5139051|An increased level of xanthine in the blood circulation.|HPO|N|
C5139052|Any deviation from the normal concentration of phytanic acid in the blood circulation.|HPO|N|
C5139053|Any deviation from the normal concentration of carnitine in the blood circulation.|HPO|N|
C5139054|An abnormal functioning of phagocytosis. Phagocytosis is an elegant but complex process for the ingestion and elimination of pathogens, but it is also important for the elimination of apoptotic cells and hence fundamental for tissue homeostasis. Phagocytosis can be divided into four main steps|HPO|N|
C5139055|Any deviation from the normal concentration of a dicarboxylic acid in the blood circulation.|HPO|N|
C5139057|A deviation from the normal concentration of a polysaccharide in the blood circulation.|HPO|N|
C5139058|A deviation from the normal concentration of a carbohydrate in the blood circulation.|HPO|N|
C5139059|A deviation from the normal concentration of an unsaturated fatty acid in the blood circulation.|HPO|N|
C5139060|Any deviation from the normal concentration of a prostaglandin in the blood circulation.|HPO|N|
C5139061|The concentration of vitamin K in the blood circulation is below the lower limit of normal.|HPO|N|
C5139062|Any deviation from the normal concentration of citrulline in the blood circulation.|HPO|N|
C5139063|Any deviation from the normal concentration in the blood circulation of an acylcarnitine, which is produced by reversible esterification of the 3-hydroxyl group of carnitine.|HPO|N|
C5139064|Any deviation from the normal concentration of serine in the blood circulation.|HPO|N|
C5139065|The presence of leucine crystals in the urine.|HPO|N|
C5139066|An elevated level of carnitine in the urine.|HPO|N|
C5139067|An increased level of alanine in the urine.|HPO|N|
C5139068|An increased level of beta-alanine in the urine.|HPO|N|
C5139069|An infection resulting from live attenuated vaccines (LAV), that is, a vaccine prepared from living viruses or bacteria that have been weakened under laboratory conditions. LAV vaccines will replicate in a vaccinated individual and produce an immune response but usually cause mild or no disease. are derived from disease-causing pathogens.|HPO|N|
C5139070|Local or regional infection with Bacillus Calmette-Guerin (BCG) following vaccination.|HPO|N|
C5139071|Infection with the measles virus of the live-attenuated vaccine. This is an extremely rare event and may indicate immunocompromise in some cases.|HPO|N|
C5139072|Infection with live attenuated polio vaccine following vaccination. This is an extremely rare event that may indicate immunocompromise.|HPO|N|
C5139073|Infection with live attenuated rotavirus vaccine following vaccination.|HPO|N|
C5139074|Repeated episodes of the formation of abscesses in organs. An abscess is a circumscribed area of pus or necrotic debris in the parenchyma or an organ.|HPO|N|
C5139075|Clinical assessment of a requirement to treat with intravenous antibiotics over an unusually prolonged period of time.|HPO|N|
C5139076|Increased susceptibility to streptococcal infections, as manifested by recurrent episodes of streptococcal infections.|HPO|N|
C5139077|An infection by an encapsulated bacterial agent. Isolates which cause invasive disease are usually surrounded by a polysaccharide capsule, which is a major virulence factor and the key antigen in protective protein-polysaccharide conjugate vaccines.|HPO|N|
C5139078|An unusually severe course of infection with Human norovirus, previously known as Norwalk virus. Norovirus, an RNA virus of the family Caliciviridae, is a human enteric pathogen. Norovirus infection-associated illness may also be more prolonged and severe in immunocompromised individuals and may be associated with remarkably persistent viral excretion in some of these individuals.|HPO|N|
C5139079|An unusual fungal infection that is regarded as a sign of a pathological susceptibility to infection by a fungal agent.|HPO|N|
C5139080|An unusual protozoan infection that is regarded as a sign of a pathological susceptibility to infection by a protozoal agent.|HPO|N|
C5139081|Toxoplasmosis is a widespread parasitic infection that is frequently asymptomatic in immunocompetent patients. However, this obligate intracellular protozoan parasite can evade the immune system and persist for the life of its host in cyst form, predominantly in the brain, retina, and muscles. Reactivation of latent cysts may occur when the immune system fails to maintain cytokine pressure, which mainly relies on gamma interferon (IFN-gamma). Toxoplasmosis is a life-threatening infection in immunocompromised patients (ICPs).|HPO|N|
C5139082|An unusual helminthic infection that is regarded as a sign of a pathological susceptibility to infection by a worm (helminth).|HPO|N|
C5139083|An unusual parasitic infection that is regarded as a sign of a pathological susceptibility to infection by a parasite.|HPO|N|
C5139084|A deviation from the normal proportion of CD4-positive, CD25-positive, alpha-beta regulatory T cells in circulation, relative to another population of cells.|HPO|N|
C5139085|An abnormally increased proportion of CD4-positive, CD25-positive, alpha-beta regulatory T cells in circulation, relative to another population of cells.|HPO|N|
C5139086|An abnormally decreased proportion of CD4-positive, CD25-positive, alpha-beta regulatory T cells in circulation, relative to another population of cells.|HPO|N|
C5139087|Human papillomaviruses (HPVs) are small oncogenic viruses. HPV has been shown to cause a variety of lesions and malignancies, which predominantly affect the anogenital region. Low-risk, non-oncogenic HPV types are associated with anogenital warts and recurrent respiratory papillomatosis while high-risk, oncogenic types are associated with cervical, penile, anal, vaginal, vulvar, and oropharyngeal cancers. Infection with anogenital HPV is usually asymptomatic and resolves spontaneously without consequences in the immunocompetent host. When disease does occur, the most common manifestation is genital warts, which may be small papules, or flat, smooth or pedunculated lesions. This resolution of HPV lesions is not generally seen in the immunosuppressed, resulting in severe, persistent and extensive manifestations of HPV disease.|HPO|N|
C5139088|An abnormal number of plasma cells in the blood circulation. Plasma cells are the the effector cells dedicated to the production of a high amount of antibodies.|HPO|N|
C5139089|An abnormally low number of plasma cells in the blood circulation. Plasma cells are the the effector cells dedicated to the production of a high amount of antibodies.|HPO|N|
C5139090|An abnormally high number of plasma cells in the blood circulation. Plasma cells are the the effector cells dedicated to the production of a high amount of antibodies.|HPO|N|
C5139091|An abnormal proportion of central memory CD4+ T cells. These are memory cells that are located in the secondary lymphoid organs. These cells may have a CD3/CD4/CD62L+/CD45RA- phenotype.|HPO|N|
C5139094|An abnormal proportion of effector memory CD4+ T cells compared to the total number of T cells in the blood. These are memory cells that are short-lived cells that migrate to the site of an infection and attempt to eliminate the pathogen. These cells have the phenotype CD3-positive, CD4-positive, CD62L-negative, CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative.|HPO|N|
C5139095|An abnormally decreased proportion of effector memory CD4+ T cells compared to the total number of T cells in the blood. These are memory cells that are short-lived cells that migrate to the site of an infection and attempt to eliminate the pathogen. These cells have the phenotype CD3-positive, CD4-positive, CD62L-negative, CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative.|HPO|N|
C5139096|An abnormally increased proportion of effector memory CD4+ T cells. These are memory cells that are short-lived cells that migrate to the site of an infection and attempt to eliminate the pathogen. These cells may have a CD3/CD4/CD62L-/CD45RA phenotype.|HPO|N|
C5139097|An abnormally high concentration of oleic acid (oleate) in the blood circulation.|HPO|N|
C5139098|An abnormally high concentration of octadecanoate in the blood circulation. Octadecanoate is a fatty acid anion 18:0 that is the conjugate base of octadecanoic acid (stearic acid).|HPO|N|
C5139099|An abnormally high concentration of myristoleate in the blood circulation.|HPO|N|
C5139100|Increased amount of alpha-aminobutyric acid in the urine.|HPO|N|
C5139101|An abnormal reduction in the amount of reactive oxygen produced by neutrophils in the respiratory burst.|HPO|N|
C5139102|A structural abnormality of the ureter. The ureter is the duct by which urine passes from the kidney to the bladder.|HPO|N|
C5139103|A functional abnormality of the ureter. The ureter is the duct by which urine passes from the kidney to the bladder.|HPO|N|
C5139104|An increased level of N-butyrylglycine in the urine.|HPO|N|
C5139105|An abnormally elevated amount of zinc in the urine, typically as assessed by a 24 hour urine collection.|HPO|N|
C5139106|An abnormal concentration or amount of a mineral in the urine. Medically relevant minerals include calcium, phosphorus, potassium, sodium, chloride, magnesium, iron, zinc, iodine, chromium, copper, fluoride, molybdenum, manganese, and selenium.|HPO|N|
C5139107|The concentration of glycolate in the blood circulation is above the upper limit of normal.|HPO|N|
C5139108|Any deviation from the normal concentration in the blood circulation of a thromboxane. Thromboxanes are derived from prostaglandin precursors in platelets, and stimulate aggregation of platelets and constriction of blood vessels.|HPO|N|
C5139109|An abnormally decreased concentration of leukotriene C4 in the blood circulation.|HPO|N|
C5139110|Peripheral visual field constriction with 20-49 degrees binocular visual field preserved.|HPO|N|
C5139111|Aplasia, that is failure to develop, of the fallopian tube.|HPO|N|
C5139112|Fusion of the pancreatic tail and spleen.|HPO|N|
C5139114|A phalangeal malformation that is termed angel-shaped phalanx (ASP), because of its resemblance to the angels used for decoration of Christmas trees. The various components of an angel-shaped phalanx are|HPO|N|
C5139115|A type of mucoid extracellular matrix accumulation in which the increase in mucoid extracellular matrix does not significantly alter the arrangement of the lamellar units.|HPO|N|
C5139116|A type of mucoid extracellular matrix accumulation in which the increase in mucoid extracellular matrix alters the arrangement of the lamellar units to varying degrees.|HPO|N|
C5139117|Loss and/or fragmentation of elastic fibers of the media of the aorta creating increasingly extended translamellar spaces, with absence of elastic fibers, and increased gaps in elastic fiber lamellae as identified on a stain for elastic fibers.|HPO|N|
C5139118|A thinning out of elastic fibers of the media of the aorta that creates widening of intralamellar spaces, as identified on a stain for elastic fibers.|HPO|N|
C5139119|Nonparallel arrangement/disarray of elastic fibers of the media of the aorta as identified on a stain for elastic fibers.|HPO|N|
C5139120|A region of the aortic media in which smooth muscle cell nuclei, involving multiple lamellae, are not clearly identifiable on an hematoxylin and eosin stain.|HPO|N|
C5139121|Architecturally, a compaction of aortic medial elastic fibers that creates thinning of the lamellar unit secondary to a band-like smooth muscle cell loss identified using a stain for elastic fibers.|HPO|N|
C5139122|Nonparallel arrangement/disarray of smooth muscle cells of the aortic media creating focal/multifocal disarray or sometimes nodular aggregates of smooth muscle cells.|HPO|N|
C5139123|An increase in collagen fibers creating areas of substitutive fibrosis or a widening of intralamellar spaces in the media of the aorta. This can be seen in conjunction with a loss to varying degrees of parallel arrangement of the elastic lamellae (or lamellar units).|HPO|N|
C5139124|A type of aortic medial fibrosis in which the increase in collagen does not significantly alter the arrangement of the lamellar units.|HPO|N|
C5139125|A type of aortic medial fibrosis in which the increase in collagen is more scar-like, altering the arrangement of the lamellar units.|HPO|N|
C5139126|An increased concentration of a surfactant protein in the blood circulation. Pulmonary surfactant is a highly surface-active mixture of proteins and lipids that is synthesized and secreted onto the alveoli by type II epithelial cells. The protein part of surfactant constitutes of four types of surfactant proteins (SP), SP-A, SP-B, SP-C and SP-D. SP-A and SP-D are hydrophilic proteins that regulate surfactant metabolism and have immunologic functions. These two proteins are detectable in the bloodstream and an elevated level may reflect idiopathic pulmonary fibrosis.|HPO|N|
C5139127|A deviation from the normal range of manganese in the blood circulation.|HPO|N|
C5139128|An elevation above the normal concentration of manganese in the blood.|HPO|N|
C5139129|A reduction below the normal concentration of manganese in the blood.|HPO|N|
C5139130|The presence of radial grooves in the skin surrounding the mouth (see Figure 4 of PMID:27833976).|HPO|N|
C5139131|The doll's eye reflex (also known as oculocephalic reflex) is a test of brain function that is performed in comatose patients by elevating the head roughly 30 degrees and rapidly rotating the head from side to side with the eyes kept open. A normal response is for the eyes to move in the opposite direction. If the eyes do not move in the opposite direction this may indicate severe brain damage.|HPO|N|
C5139132|A type of infection that is regarded as a sign of a pathological susceptibility to infection. There are five general subtypes. (i) Opportunistic infection, meaning infection by a pathogen that is not normally able to cause infection in a healthy host (e.g., pneumonia by Pneumocystis jirovecii or CMV); (ii) Unusual location (focus) of an infection (e.g., an aspergillus brain abscess); (iii) a protracted course or lack of adequate response to treatment (e.g., chronic rhinosinusitis); (iv) Unusual severity or intensity of an infection; and (v) unusual recurrence of infections.|HPO|N|
C5139133|An involuntary abnormality of fixation in which there is an abnormal saccade away from fixation followed by an immediate corrective saccade.|HPO|N|
C5139134|A mild reduction in the ability to perceive visual contrast characterized by 0.20-0.59 log unit contrast sensitivity loss.|HPO|N|
C5139135|A moderate reduction in the ability to perceive visual contrast characterized by 0.60-0.99 log unit contrast sensitivity loss.|HPO|N|
C5139136|A severe reduction in the ability to perceive visual contrast characterized by 1.00 log unit or more contrast sensitivity loss.|HPO|N|
C5139137|An abnormality in perception of contrast as measured by the Vistech wall chart sine wave grating test.|HPO|N|
C5139138|An abnormality in perception of contrast as measured by the Pelli-Robson contrast sensitivity chart, which is a large wall-mounted chart, with letters of a fixed size (comprising spatial frequencies appropriate for estimating peak contrast sensitivity) that decrease in contrast.|HPO|N|
C5139139|A mode of inheritance that is observed for traits related to a gene encoded on chromosomes in which a trait can manifest in a monoallelic (e.g. heterozygotes) and biallelic (e.g. homozygotes, compound heterozygotes) state, with similar or differing phenotype severity present dependent on the number of alleles affected.|HPO|N|
C5139140|Horizontal 10-40 degree excursions from fixation and back again.|HPO|N|
C5139141|Any functional abnormality of the part of the nervous system that consists of the nerves and ganglia outside of the brain and spinal cord.|HPO|N|
C5139142|A reduction in visual acuity with best corrected visual acuity between 1.40 (20/500) and 1.89 logMAR (up to roughly 20/1590).|HPO|N|
C5139143|Best corrected visual acuity worse than 1.90 logMAR (roughly 20/1590).|HPO|N|
C5139144|A deviation of the normal proportion of unswitched memory B cells in circulation relative to the total number of B cells.|HPO|N|
C5139145|An increase above the normal proportion of non-class-switched memory B cells relative to the total number of B cells.|HPO|N|
C5139146|A reduction below the normal proportion of non-class-switched memory B cells relative to the total number of B cells.|HPO|N|
C5139147|A deviation from the normal proportion of plasmablasts in circulation relative to total number of B cells. Plasmablasts are antibody-secreting cells that originate after infection or vaccination.|HPO|N|
C5139148|An elevation above the normal proportion of plasmablasts in circulation relative to total number of B cells.|HPO|N|
C5139149|A reduction below the normal proportion of plasmablasts in circulation relative to total number of B cells.|HPO|N|
C5139150|Mycobacterium abscessus complex comprises a group of rapidly growing, multidrug-resistant, nontuberculous mycobacteria that are responsible for a wide spectrum of skin and soft tissue diseases, central nervous system infections, bacteremia, and ocular and other infections.|HPO|N|
C5139151|A reduction beneath the normal level of total immunoglobulin G (IgG) in the blood.|HPO|N|
C5139152|A temporary reduction beneath the normal level of total immunoglobulin G (IgG) in the blood.|HPO|N|
C5139153|A lasting reduction beneath the normal level of total immunoglobulin G (IgG) in the blood.|HPO|N|
C5139154|A reduction in immunoglobulin levels of the IgG1 subclass in the blood circulation.|HPO|N|
C5139155|A reduction in immunoglobulin levels of the IgG3 subclass in the blood circulation.|HPO|N|
C5139156|A reduction in immunoglobulin levels of the IgG4 subclass in the blood circulation.|HPO|N|
C5139157|Level of isohemagglutinin reduced below expected concentration. An isohemagglutinin refers to the naturally occurring antibodies in the ABO blood group system (i.e., anti-A in a group B person, anti-B in a group A person, and anti-A, anti-B, and anti-A,B in a group O person).|HPO|N|
C5139158|A reduced ability to synthesize postvaccination antibodies against toxoids and polysaccharides in vaccines, as measured by antibody titer determination following vaccination.|HPO|N|
C5139159|Wasting of the sural nerve, a sensory nerve in the calf region of the leg.|HPO|N|
C5139160|Excruciating burning pain in the rectal area that may be triggered by defecation.|HPO|N|
C5139161|Recurrent episodes of marked eosinophilia that resolve spontaneously.|HPO|N|
C5139162|An unusual infection classified by the affected body part.|HPO|N|
C5139163|A type of infection of the skin that can be regarded as a sign of a pathological susceptibility to infection.|HPO|N|
C5139164|An elevated circulating concentration of folic acid, which is also known as vitamin B9.|HPO|N|
C5139166|An infection of the small intestine (enteritis) by clostridium difficile.|HPO|N|
C5139167|A type of infection that is regarded as a sign of a pathological susceptibility to infection because of unusual severity or intensity of the infection.|HPO|N|
C5139168|An unusually severe form of varicella zoster virus (VZV) infection. In the majority of the cases, especially in children, varicella is a very mild infection characterized by skin lesions, low grade fever and malaise. Severe infection is characterized by manifestions including VZV pneumonia, hepatitis, meningitis, and disseminated varicella.|HPO|N|
C5139169|A crescent of air surrounding a soft-tissue mass in a pulmonary cavity and can be seen in both plain X-ray and CT scan.|HPO|N|
C5139170|This sign is seen in pneumomediastinum in which air accumulates between the lower border of the heart and the superior part of the diaphragm, which results in complete visualization of the diaphragm in chest X-ray, hence named continuous diaphragm sign.|HPO|N|
C5139171|The tree-in-bud pattern represents centrilobular branching structures that resemble a budding tree. The pattern reflects a spectrum of endo- and peribronchiolar disorders, including mucoid impaction, inflammation, and/or fibrosis (See Figure 70 of PMID:18195376).|HPO|N|
C5139172|This finding is composed of a ring-shaped opacity representing a dilated bronchus in cross section and a smaller adjacent opacity representing its pulmonary artery, with the combination resembling a signet (or pearl) ring. It is the basic sign of bronchiectasis in pulmonary computed tomography imaging.|HPO|N|
C5139173|An apical cap is a caplike lesion at the lung apex, usually caused by intrapulmonary and pleural fibrosis pulling down extrapleural fat or possibly by chronic ischemia resulting in hyaline plaque formation on the visceral pleura. The prevalence increases with age. It can also be seen in hematoma resulting from aortic rupture or in other fluid collection associated with infection or tumor, either outside the parietal pleura or loculated within the pleural space.|HPO|N|
C5139174|Consolidation refers to an exudate or other product of disease that replaces alveolar air, rendering the lung solid (as in infective pneumonia).|HPO|N|
C5139175|A dermatosis characterized by generalized shiny, enamel-like, hyperpigmented scales in an irregular pattern. The scales may peel or desquamate, rather like old, sun-baked blistered paint, often with areas of underlying hypopigmentation. This has led to the terms peeling paint or flaky paint dermatosis (See the Figure in PMID:24285001).|HPO|N|
C5139176|An abnormal concentration of globulins in the blood. Albumin makes up more than half of the total protein present in serum. The remaining blood proteins except albumin and fibrinogen (which is not in serum) are referred to as globulins. The globulin fraction includes hundreds of serum proteins including carrier proteins, enzymes, complement, and immunoglobulins. Most of these are synthesized in the liver, although the immunoglobulins are synthesized by plasma cells. Globulins are divided into four groups by electrophoresis. The four fractions are alpha1, alpha2, beta and gamma, depending on their migratory pattern between the anode and the cathode.|HPO|N|
C5139177|An abnormal level of an analyte measured in the blood.|HPO|N|
C5139178|An abnormality of the hepatic veins, which normally drain de-oxygenated blood from the liver into the inferior vena cava, whereby the hepatic veins drain into the left atrium.|HPO|N|
C5139179|An abnormal proportion of memory T cells compared to the total number of T cells in the blood. Memory T cells have previously encountered and responded to their cognate antigen and upon a repeated encounter with the antigen can mount a faster and stronger response.|HPO|N|
C5139180|An abnormally reduced proportion of memory T cells compared to the total number of T cells in the blood.|HPO|N|
C5139181|An abnormally elevated proportion of memory T cells compared to the total number of T cells in the blood.|HPO|N|
C5139182|The presense of molluscum contagiosum lesions across multiple areas of the body.|HPO|N|
C5139183|An increased cellular sensitivity to the DNA cross-linking agent, mitomycin C (MMC). In the presence of increased sensitivity, MMC causes increased cell death, chromosome breakage, and accumulation in the G2 phase of the cell cycle.|HPO|N|
C5139184|An increased cellular sensitivity to the DNA cross-linking agent, diepoxybutane (DEB). In the presence of increased sensitivity, DEB causes cell death, chromosome breakage, and accumulation in the G2 phase of the cell cycle.|HPO|N|
C5139185|Abnormal structure of the meniscus of the knee, two crescent shape fibrocartilaginous pads that disperse the weight of the body and reduce friction of the knee joint during movement.|HPO|N|
C5139186|An abnormal decrease in the average size of low-density lipoprotein particle size in the blood circulation.|HPO|N|
C5139187|Any anomaly of the S wave, which is the third component of the QRS wave complex. The S wave signifies the final depolarization of the ventricles at the base of the heart.|HPO|N|
C5139188|Increased amplitude (0.1 mV or more) and/or duration (40 ms or more) of the S wave as measured in lead I of the electrocardiogram.|HPO|N|
C5139189|Abnormal depth of the S wave in lead V5 of the electrocardiogram.|HPO|N|
C5139190|Chronic active Epstein-Barr virus (EBV) infection is an uncommon outcome of EBV infection and may present as a waxing and waning or fulminant syndrome. Unlike acute infectious mononucleosis, wherein EBV establishes lifelong infection and survives by maintaining a delicate balance with the host as a latent infection, in chronic active EBV infection the host-virus balance is disturbed.|HPO|N|
C5139191|An increased circulation of galectin-3 in the blood circulation.|HPO|N|
C5139193|An increased concentration of type 1 collagen N-terminal telopeptide (NTx) level in the urine. Generally the test is performed over a period of time, for instance, 10 cc of morning urine can be collected following 12 hours overnight fasting or for 24 hours.|HPO|N|
C5139194|A deviation from the normal concentration of free triiodothyronine (T3) in the blood circulation. A proportion of T3 is bound to plasma proteins in the blood, including mainly thyroxine binding globulin, transthyretin, and albumin. T3 that is not bound to a protein is referred to as free T3.|HPO|N|
C5139195|A reduced concentration of free 3,3',5-triiodo-L-thyronine in the blood circulation.|HPO|N|
C5139196|An increased number of epithelial cells per high-power field in urinanalysis.|HPO|N|
C5139197|An increased number of squamous epithelial cells per high-power field in urinanalysis.|HPO|N|
C5139198|An increased number of renal tubular epithelial cells per high-power field in urinanalysis.|HPO|N|
C5139199|An increased number of transitional epithelial cells per high-power field in urinanalysis.|HPO|N|
C5139200|Multiple skin warts located in multiple parts of the body, e.g., neck, trunks, and extremities.|HPO|N|
C5139201|Abnormally increased intraepithelial lymphocyte count. This finding may be appreciated as large numbers of surface intraepithelial lymphocytes as seen (for instance) with hematoxylin and eosin staining of a colonic biopsy sample taken during colonoscopy.|HPO|N|
C5139202|A skin nodule that is unusually hard (indurated).|HPO|N|
C5139203|A reduction in the proportion of CD4-positive T cells relative to the total number of T cells.|HPO|N|
C5139204|An elevation in the proportion of CD4-positive T cells relative to the total number of T cells.|HPO|N|
C5139205|Inflammation of the liver characterized by a mononuclear cell infiltrate whereby portal inflammatory cells extend through the limiting plate between the portal tract and liver parenchyma.|HPO|N|
C5139206|The engulfing of lymphocytes by hepatocytes, which typically occurs in the interface hepatitis area.|HPO|N|
C5139207|The presence of multiple serrated polyps in the intestine. Unlike conventional adenomas, which are uniformly dysplastic, the vast majority of serrated lesions contain no dysplasia. The serrated class includes the hyperplastic polyps, which are not considered precancerous; sessile serrated polyps (also called sessile serrated adenomas); and traditional serrated adenomas. Sessile serrated polyps are larger on average and more often located in the proximal colon. Sessile serrated polyps have a more irregular surface, a pattern to the surface that has been called cloudlike, and indistinct edges compared with hyperplastic polyps. Sessile serrated polyps also have large open pits on the surface (type O pits) when viewed with magnification.|HPO|N|
C5139208|Any structural anomaly of the sebaceous glands.|HPO|N|
C5139209|The presence of autoantibodies in the serum that react against proteins predominantly expressed in perinuclear region of neutrophils.|HPO|N|
C5139210|The presence of autoantibodies in the serum that react against proteins predominantly expressed in cytoplasmic granules of neutrophils.|HPO|N|
C5139211|An increased concentration of the MB isoform of creatine kinase in the blood circulation.|HPO|N|
C5139212|An increased concentration of the BB isoform of creatine kinase in the blood circulation.|HPO|N|
C5139213|An increased concentration of the MM isoform of creatine kinase in the blood circulation.|HPO|N|
C5139215|An abnormally increased number of immature neutrophils in the peripheral blood circulation.|HPO|N|
C5139216|The number of myelocytes in the peripheral blood circulation is above the upper limit of normal. Myelocytes are immature neutrophils with a size of 12-18 micrometers, a round or oval nucleus with no nucleoli, bluish-pink staining cytoplasm with primary and secondary granules, and a nucleus:cytoplasm ratio of 2:1.|HPO|N|
C5139217|The number of metamyelocytes in the peripheral blood circulation is above the upper limit of normal. Metamyelocytes are immature neutrophils with a size of 10-18 micrometers, an indented or kidney-shaped nucleus, pinkish-blue staining cytoplasm with secondary granules, and a nucleus:cytoplasm ratio of 1.5:1.|HPO|N|
C5139218|An increased concentration of E selectin in the blood circulation.|HPO|N|
C5139219|Any deviation from the normal concentration of a metabolite in a tissue.|HPO|N|
C5139220|An abnormality in the function of the chemical reactions related to processes including conversion of food to enter, synthesis of proteins, lipids, nucleic acids, and carbohydrates, or the elimination of waste products.|HPO|N|
C5139221|Lasting (uncontrolled) presence of cytomegalovirus in the blood circulation.|HPO|N|
C5139222|Persistence of virus in the blood circulation longer than would be normal in an immunocompetent host.|HPO|N|
C5139224|An infection that is caused by a fungus that would generally not be able to cause an infection in a host with a normal immune system. Such fungi take advantage of the opportunity, so to speak, that is provided by a weakened immune system.|HPO|N|
C5139226|The term tinea means fungal infection, whereas dermatophyte refers to the fungal organisms that cause tinea. This term refers to a tinea infection that is chronic or recalcitrant to treatment and may be reflective of an immune defect.|HPO|N|
C5139227|An infection that is caused by a bacterium that would generally not be able to cause an infection in a host with a normal immune system. Such bacteria take advantage of the opportunity, so to speak, that is provided by a weakened immune system.|HPO|N|
C5139228|An infection of the lung caused by environmental mycobacteria. Such infections can occur in individuals with predisposing lung disease or immune disease.|HPO|N|
C5139229|The presence of autoantibodies (immunoglobulins) in the serum that react against the NMDA (N-methyl-D-aspartate)-type glutamate receptor.|HPO|N|
C5139230|The presence of an antibody in the cerebrospinal fluid (CSF) that is directed against the organism's own cells or tissues.|HPO|N|
C5139231|The presence of autoantibodies (immunoglobulins) in the cerebrospinal fluid (CSF) that react against the NMDA (N-methyl-D-aspartate)-type glutamate receptor.|HPO|N|
C5139232|This sign represents thickening and enhancement of the dura mater in continuity with a mass, which on MR images, gives the appearance of a tail arising from the mass. The dural tail is thought to represent reactive change; however, it may also be due to tumor invasion. Three criteria need to be met for a positive dural tail sign|HPO|N|
C5139233|A tram-track sign is composed of two enhancing areas of tumor separated from each other by the negative defect of the optic nerve. It is seen on contrast-enhanced CT scan and MRI images, in optic nerve sheath meningioma. The sign helps distinguish between optic nerve sheath meningioma and optic glioma. Optic glioma arises from glial cells within the optic nerve and there is no clear separation between the nerve and the tumor; hence the tram-track sign is not seen in optic gliomas. Calcification may be seen in optic nerve sheath meningiomas in 20-50% of cases and hence the tram-track sign may be seen on nonenhanced CT scan images as a linear calcification around the nerve, but this is less common.|HPO|N|
C5139235|Concentration of N-acetylaspartic acid in the blood circulation above the upper limit of normal.|HPO|N|
C5139236|An abnormally increased concentration of N-acetylaspartic acid in the cerebrospinal fluid (CSF).|HPO|N|
C5139237|Abnormally increased prominence of the fat pad underneath the heal. This feature can be appreciated in figure 1 of PMID:26769062.|HPO|N|
C5139239|The concentration of 2-hydroxyglutaric acid in the urine, normalized for urine concentration, is above the upper limit of normal.|HPO|N|
C5139240|An infection with nontuberculous mycobacteria that affects multiple body sites. Such infections can occur in individuals with immune disease.|HPO|N|
C5139241|Ultra-low vision but with retained ability to identify a moving object (typically hand motion at distance of 30 cm).|HPO|N|
C5139242|Ultra-low vision but with retained ability to perceive the difference between light and dark. Also when light is projected in each of the four quadrants of the visual field, the individual is able to correctly identify the origin of the light stimulus.|HPO|N|
C5139243|Ultra-low vision but with retained ability to perceive the difference between light and dark.|HPO|N|
C5139244|Ultra-low vision with complete lack of light and form perception.|HPO|N|
C5139245|An increase in polyclonal immunoglobulins resulting from many different plasma cells. On serum electrophoresis, a polyclonal gammopathy is characterized by a broad diffuse band with one or more heavy chains and kappa and lambda light chains.|HPO|N|
C5139246|An increase in circulating immunoglobulins characterized by two or more bands in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins.|HPO|N|
C5139247|An increase in circulating immunoglobulins characterized by a single band in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins.|HPO|N|
C5139248|A type of monoclonal elevation of IgG in which the involved immunoglobulin has a normal structure with a light and heavy chain.|HPO|N|
C5139249|A type of monoclonal elevation of IgG in which the involved immunoglobulin has an abnormal structure with a light chain but not a heavy chain.|HPO|N|
C5139250|A type of monoclonal elevation of IgG in which the involved immunoglobulin has an abnormal structure with a heavy chain but not a light chain.|HPO|N|
C5139251|A type of monoclonal elevation of IgG in which the involved immunoglobulin has an abnormal structure with a kappa light chain but not a heavy chain.|HPO|N|
C5139252|A type of monoclonal elevation of IgG in which the involved immunoglobulin has an abnormal structure with a lambda light chain but not a heavy chain.|HPO|N|
C5139253|An elevation of circulating IgG level predominantly related to an elevation of one of the four IgG subclasses.|HPO|N|
C5139254|An abnormally increased concentration of the IgG3 subtype in the blood circulation.|HPO|N|
C5139255|An abnormally increased concentration of the IgG1 subtype in the blood circulation.|HPO|N|
C5139256|An abnormally increased concentration of the IgG2 subtype in the blood circulation.|HPO|N|
C5139257|An abnormally increased concentration of the IgG4 subtype in the blood circulation.|HPO|N|
C5139258|The presence of free monoclonal kappa immunoglobulin light chains in the urine.|HPO|N|
C5139259|The presence of free monoclonal lambda immunoglobulin light chains in the urine.|HPO|N|
C5139261|Concentration of mannose-binding protein in the blood circulation below the lower limit of normal.|HPO|N|
C5139262|Concentration of mannose-binding protein in the blood circulation above the upper limit of normal.|HPO|N|
C5139263|An elevated concentration of procalcitonin in the blood circulation.|HPO|N|
C5139264|Any deviation from the normal cell count per volume of granulocytes in the blood circulation.|HPO|N|
C5139265|An abnormally elevated concentration of globulins in the blood.|HPO|N|
C5139266|An abnormally reduced concentration of globulins in the blood.|HPO|N|
C5139267|Excessive, increased hair growth located in the region of the forehead and temple.|HPO|N|
C5139268|An abnormal appearance or structure of the ring of pigmented skin that surrounds the nipple.|HPO|N|
C5139269|The areola (ring of pigmented skin surrounding the nipple) is filled out so as to produce a rounded shape.|HPO|N|
C5139270|Episodic fever that recurs at irregular intervals.|HPO|N|
C5139271|An abnormally elevated concentration of 11-deoxycortisol in the urine.|HPO|N|
C5139272|An abnormally elevated concentration or amount of 11-deoxycorticosterone in the urine.|HPO|N|
C5139273|An abnormally elevated concentration or amount of 11-deoxytetrahydrocorticosterone the urine.|HPO|N|
C5139274|An increase in circulating IgM characterized by two or more bands in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase.|HPO|N|
C5139275|A heterogeneous increase in IgA mmunoglobulins characterized by a diffuse band on serum electrophoresis.|HPO|N|
C5139276|An increase in circulating IgA characterized by two or more bands in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins.|HPO|N|
C5139277|An increase in circulating IgA characterized by one predominant band in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins.|HPO|N|
C5139279|An increase in circulating IgE characterized by one predominant band in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins.|HPO|N|
C5139280|An increase in circulating IgE characterized by two or more bands in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins.|HPO|N|
C5139281|A heterogeneous increase in IgE mmunoglobulins characterized by a diffuse band on serum electrophoresis.|HPO|N|
C5139283|An abnormal reduction in the amount of air a person can forcefully expel in one second.|HPO|N|
C5139284|An abnormal increased in the amount of the carbohydrate antigen 19-9, a recognizable sialo-ganglioside in the blood circulation.|HPO|N|
C5139285|A increased concentration of serine in the urine.|HPO|N|
C5139286|Increased level of phenylalanine in urine.|HPO|N|
C5139287|Increased level of leucine in urine.|HPO|N|
C5139288|A reduction in the maximum expiratory flow per minute, which can be used to measure how fast a subject can exhale as well as to judge the strength of the expiratory muscles and the condition of the large airways.|HPO|N|
C5139289|An abnormal reduction in the amount of air a person can expel following maximal insipiration, with the test being performed before the administration of a bronchodilating medication.|HPO|N|
C5139290|An abnormal reduction in the amount of air a person can expel following maximal insipiration, with the test being performed after the administration of a bronchodilating medication.|HPO|N|
C5139291|An abnormal reduction in the amount of air a person can forcefully expel in one second, with the test being performed after the administration of a bronchodilating medication.|HPO|N|
C5139292|A reduction compared to the predicted value of the forced expiratory flow over the middle one-half of the FVC; the average flow from the point at which 25% of the FVC has been exhaled to the point at which 75% of the FVC has been exhaled.|HPO|N|
C5139293|A reduction compared to the predicted value of the forced expiratory flow over the middle one-half of the FVC; the average flow from the point at which 25% of the FVC has been exhaled to the point at which 75% of the FVC has been exhaled. Here, the test is performed before the administration of a bronchodilating medication.|HPO|N|
C5139294|A reduction compared to the predicted value of the forced expiratory flow over the middle one-half of the FVC; the average flow from the point at which 25% of the FVC has been exhaled to the point at which 75% of the FVC has been exhaled. Here, the test is performed after the administration of a bronchodilating medication.|HPO|N|
C5139295|An abnormally elevated concentration of corticosterone in the blood.|HPO|N|
C5139296|An abnormally reduced concentration of corticosterone in the blood.|HPO|N|
C5139299|A positive result of the direct antiglobulin test (DAT), a method of demonstrating the presence of antibody or complement bound to red blood cell (RBC) membranes by the use of anti-human globulin to form a visible agglutination reaction.|HPO|N|
C5139300|Any deviation from the normal level of growth hormone (GH) in the blood circulation. GH or somatotropin is a peptide hormone that stimulates growth, cell reproduction, and cell regeneration. Its secretion from the pituitary is regulated by the neurosecretory nuclei of the hypothalamus, which can release Growth hormone-releasing hormone (GHRH or somatocrinin) and Growth hormone-inhibiting hormone (GHIH or somatostatin) into the hypophyseal portal venous blood surrounding the pituitary. GH is secreted in a pulsatile manner, which is one of the reasons why an isolated measurement of its blood concentration is not meaningful.|HPO|N|
C5139301|An increased concentration of isoleucine in the urine.|HPO|N|
C5139302|An increased count in the peripheral blood of cells that are precursors to mature circulating blood cells such as neutrophiles, monocytes, lymphocutes, and erythrocytes. Blasts are not usually found in significant numbers in the peripheral blood circulation, but can be observed in hematopoietic neoplasms such as leukemia, severe infections, and as a result of certain medications.|HPO|N|
C5139303|Presence of the Duffy Fya antigen.|HPO|N|
C5139304|Presence of the Duffy Fyb antigen.|HPO|N|
C5139305|Presence of antibodies against beta 2 glycoprotein I in the circulation. Beta-2 glycoprotein I (beta2GPI) is the principal target of autoantibodies in the antiphospholipid syndrome (APS).|HPO|N|
C5139306|An increased concentration in the urine of alpha-1-acid glycoprotein (AGP), also known as orosomucoid (ORM). AGP is a 41-43-kDa glycoprotein with a pI of 2.8-3.8. AGP is an acute-phase protein that has many activities including, but not limited to, acting as an acute-phase reactant and disease marker, modulating immunity, binding and carrying drugs, maintaining the barrier function of capillary, and mediating the sphingolipid metabolism.|HPO|N|
C5139307|Hypersensitivity that is observed within 1 hr of exposures. A variety of adverse reactions can occur within minutes to hours of exposure to a drug. Some can be related to the pharmacological action of the drug (WHO Adverse Reaction Terminology type A for augmented) and usually have a low mortality. Others are not readily predictable based on the structure and pharmacological action of the drug and have a relatively high mortality risk (Type B for bizarre). The most serious form of immediate onset drug hypersensitivity reaction, anaphylaxis. Other reactions including itching, dizziness/light-headedness, nausea, chest discomfort but without any objective skin features, physical signs or physiological compromise. Skin only reactions include generalized erythema, urticaria or angioedema without any sentinel features (see below) of other organ involvement.|HPO|N|
C5139308|Any deviation from the normal concentration of transferrin in the blood circulation.|HPO|N|
C5139309|An abnormally increased concentration of transferrin in the blood circulation.|HPO|N|
C5139310|An abnormally decreased concentration of transferrin in the blood circulation.|HPO|N|
C5139311|Heterotopia that forms a continuous wavy line along the ventricular wall.|HPO|N|
C5139312|Solid nodular heterotopia situated in the region of the peritrigonal optic pathway posterior to the deep gray nuclei.|HPO|N|
C5139313|Subcortical heterotopia consisting of a bilateral and symmetric single continuous, undulating ribbon-like layer of gray matter located in the frontal, parietal and occipital lobes. It has no visible connection to the overlying cortex.|HPO|N|
C5139314|Subcortical heterotopia extending along the mesial aspect of the lateral ventricles, with direct connection to mesial polymicrogyria-like cortex at the anterior and posterior limits of the heterotopia.|HPO|N|
C5139315|Large subcortical heterotopia of variable morphology wiht streaks and swirls. These always connect to the overlying cortex in at least one, but usually in multiple, locations. Spaces with the signal intensity of CSF are usually seen within the heterotopia.|HPO|N|
C5139316|Linear heterotopia spanning from the cerebral mantle from the pia to the ependyma.|HPO|N|
C5139317|An abnormal gyral pattern characterized by abnormalities of sulcal depth or orientation.|HPO|N|
C5139318|An abnormal gyral pattern characterized by abnormalities of sulcal depth or orientation but with a normal thickness of the cortex.|HPO|N|
C5139319|An abnormal gyral pattern characterized by abnormalities of sulcal depth or orientation and a thickened cortex intermediate between pachygyria and polymicrogyria.|HPO|N|
C5139320|A increased concentration of aspartic acid in the urine.|HPO|N|
C5139321|An increased concentration of asparagine in the urine.|HPO|N|
C5139322|An increased level of phosphoserine in the urine.|HPO|N|
C5139323|A type of perisylvian polymicrogyria that largely affects one side of the brain.|HPO|N|
C5139324|Symmetric generalized polymicrogyria with no obvious gradient or region of maximal severity; may have abnormal high signal in white matter.|HPO|N|
C5139325|Longitudinal bands of gray matter located deep to the cerebral cortex and separated from it by a thin layer of normal appearing white matter visible along the occipital cortex.|HPO|N|
C5139326|Longitudinal bands of gray matter located deep to the cerebral cortex and separated from it by a thin layer of normal appearing white matter visible in the frontal and temporal lobes.|HPO|N|
C5139327|Longitudinal bands of gray matter located deep to the cerebral cortex and separated from it by a thin layer of normal appearing white matter visible along the whole brain.|HPO|N|
C5139329|Polymicrogyria in parasagittal and mesial aspects of parieto-occipital cortex.|HPO|N|
C5139330|Circumferential fibrosis in the interstitium surrounding Bowman's capsule|HPO|N|
C5139331|An abnormal concentration of an HDL subfraction, which can be determined by methods such as electrophoresis followed by densitometric determination of the areas under the peaks. Large HDL subfractions are defined as HDL1 (greater than 12 nm), HDL2b (9.7-12 nm), and HDL2a (8.8-9.69 nm). Small HDL subfractions are defined as HDL3a (8.2-8.79 nm), HDL3b (7.8-8.19 nm), and HDL3c (7.20-7.79 nm).|HPO|N|
C5139332|Any deviation from the normal concentration of the HDL2a subfraction in the blood circulation. An HDL2a particle is defined as an HDL particle with a size of 8.80-9.69 nm.|HPO|N|
C5139333|A reduction below the normal concentration of the HDL2a subfraction in the blood circulation. An HDL2a particle is defined as an HDL particle with a size of 8.80-9.69 nm.|HPO|N|
C5139334|Any deviation from the normal concentration of the HDL2b subfraction in the blood circulation. An HDL2b particle is defined as an HDL particle with a size of 9.7-12 nm.|HPO|N|
C5139335|A reduction below the normal concentration of the HDL2b subfraction in the blood circulation. An HDL2b particle is defined as an HDL particle with a size of 9.7-12 nm.|HPO|N|
C5139336|An elevation above the normal concentration of the HDL2b subfraction in the blood circulation. An HDL2b particle is defined as an HDL particle with a size of 9.7-12 nm.|HPO|N|
C5139337|Any deviation from the normal concentration of the HDL3a subfraction in the blood circulation. An HDL3a particle is defined as an HDL particle with a size of 8.2-8.79 nm.|HPO|N|
C5139338|Any deviation from the normal concentration of the HDL3b subfraction in the blood circulation. An HDL3b particle is defined as an HDL particle with a size of 7.8-8.19 nm.|HPO|N|
C5139339|Any deviation from the normal concentration of the HDL3c subfraction in the blood circulation. An HDL3c particle is defined as an HDL particle with a size of 7.20-7.79 nm.|HPO|N|
C5139340|An elevation above the normal concentration of the HDL3a subfraction in the blood circulation. An HDL3a particle is defined as an HDL particle with a size of 8.2-8.79 nm.|HPO|N|
C5139341|A reduction below the normal concentration of the HDL3a subfraction in the blood circulation. An HDL3a particle is defined as an HDL particle with a size of 8.2-8.79 nm.|HPO|N|
C5139342|An elevation above the normal concentration of the HDL3b subfraction in the blood circulation. An HDL3b particle is defined as an HDL particle with a size of 7.8-8.19 nm.|HPO|N|
C5139343|A reduction below the normal concentration of the HDL3b subfraction in the blood circulation. An HDL3b particle is defined as an HDL particle with a size of 7.8-8.19 nm.|HPO|N|
C5139344|An elevation above the normal concentration of the HDL3c subfraction in the blood circulation. An HDL3c particle is defined as an HDL particle with a size of 7.20-7.79 nm.|HPO|N|
C5139345|A reduction below the normal concentration of the HDL3c subfraction in the blood circulation. An HDL3c particle is defined as an HDL particle with a size of 7.20-7.79 nm.|HPO|N|
C5139346|Any deviation from the normal concentration of C-reactive protein in the blood circulation.|HPO|N|
C5139347|An abnormal decrease of the C-reactive protein level in serum.|HPO|N|
C5139348|An abnormally increased sensitivity to airborn particles. This can be diagnosed on the basis of the medical history, taking into account seasonality or a relationship to the concentration of airborn particles in the environment of the affected individual. Aerosol challenge is a gold standard of establishment of the symptom. There exist particle hypersensitivity (diesel exhaust, metals, inorganic material) vs. allergen (including pollen dander, etc) hypersensitivity. The responses are usually different and testing for allergen hypersensitivity is done in concert with serum IgE and or skin testing to the suspected allergen.|HPO|N|
C5139349|The affected individual has received an organ transplant previous to the current medical encounter.|HPO|N|
C5139350|An abnormal structure or appearance of hemidesmosomes, multiprotein complexes that facilitate the stable adhesion of basal epithelial cells to the underlying basement membrane.|HPO|N|
C5139351|Detection of arsenic in the blood circulation.|HPO|N|
C5139352|Flat, distinct, discolored area of oral mucosal membrane less than 1 cm wide not associated with a change in the thickness or texture of the affected mucosal membrane. The lesions are small, solitary, well-circumscribed and often uniformly pigmented.|HPO|N|
C5139353|Oral melanoacanthoma usually presents as an asymptomatic, ill-defined, rapidly enlarging, macular pigmentation. Although most lesions are heavily pigmented, the coloration may or may not be uniform. Any mucosal site may be affected, but buccal mucosal involvement is most common. Although typically solitary, rare patients may present with multifocal lesions.|HPO|N|
C5139354|Abnormal coloring of the lip, whereby the lip discolored, blotchy, or darker or lighter than normal.|HPO|N|
C5139355|Reduced level of CD18 on the granulocyte surface. This feature can be assessed by flow cytometry.|HPO|N|
C5139356|A type of lissencephaly whereby upon neuropathological examination the cortical plate is severely disorganized with a festooned-like pattern and with neither lamination nor clear demarcation between white and gray matter.|HPO|N|
C5139357|Pachygyria-agyria spectrum whereby at neuropathological examination the cortical plate consists of a two-three layered organization made up of a molecular layer, a relatively thin wavy layer with a higher cellular density and a third layer with lower cellularity.|HPO|N|
C5139358|Any deviation from the normal level of the enzyme phosphoribosyl pyrophosphatesynthetase, which catalyzes the synthesis of PP-ribose-P from ATP and ribose-5-phosphate.|HPO|N|
C5139359|Abnormally reduced level of the enzyme phosphoribosyl pyrophosphatesynthetase, which catalyzes the synthesis of PP-ribose-P from ATP and ribose-5-phosphate.|HPO|N|
C5139360|An elevation beyond the normal concentration of palmitate (palmitic acid) in the blood circulation.|HPO|N|
C5139361|A reduction below the normal concentration of fibronectin the the blood circulation.|HPO|N|
C5139362|Lack of formation (congenital absence) of the olfactory bulb.|HPO|N|
C5139363|Information about past pregnancies including gravidity (number of times a woman has been pregnant, regardless of the outcome), parity (total number of births), gestational age of births, and medical conditions related to past pregnancies.|HPO|N|
C5139364|Presence of autoantibodies against the asialoglycoprotein receptor (ASGPR) in the blood circulation.|HPO|N|
C5139365|Polymicrogyria affecting one or multiple small areas of the cerebral cortex.|HPO|N|
C5139366|An abnormal concentration of urobilinogen in the urine.|HPO|N|
C5139368|An abnormal concentration of vitamin B6 in the blood circulation.|HPO|N|
C5139369|An abnormally increased concentration of vitamin B6 in the blood circulation.|HPO|N|
C5139370|Protrusion of the arachnoid and dura through spinal foramina.|HPO|N|
C5139371|It is estimated that about 40-70 percent of human embryos produced in vitro fertilization (IVF) and intracytoplasmic sperm injection (ICSI) are viable embryos, whereas others arrest at different early stages of development. The phenotype of preimplantation lethality is inferred if IVF and ICSI cycles fail because all of an individual's embryos are arrested at early stages of development.|HPO|N|
C5139372|Any deviation from the normal concentration of circulating alpha polypeptide of glycoprotein hormones (NCBI Gene 1081).|HPO|N|
C5139373|An reduced concentration of circulating alpha polypeptide of glycoprotein hormones (NCBI Gene 1081).|HPO|N|
C5139375|An elevated concentration of sodium in feces.|HPO|N|
C5139376|Abnormal concentration of feces as assessed by the total number of solute particles per kilogram.|HPO|N|
C5139377|Abnormally high concentration of feces as assessed by the total number of solute particles per kilogram.|HPO|N|
C5139378|Abnormally low concentration of feces as assessed by the total number of solute particles per kilogram.|HPO|N|
C5139379|Any deviation from the normal pH of feces. The pH reflects the acidity or alkalinity of a solution on a logarithmic scale on which 7 is neutral, whereby lower values are more acid and higher values more alkaline.|HPO|N|
C5139380|Abnormally low fecal pH, i.e., abnormal acidity of feces.|HPO|N|
C5139381|An increased level of the non-proteinogenic amino acid argininosuccinic acid in the blood circulation.|HPO|N|
C5139382|Presence of antibodies in the serum that react against myelin oligodendrocyte glycoprotein.|HPO|N|
C5139383|A deviation from the normal proportion of terminal to vellus hairs.|HPO|N|
C5139384|An increased proportion of terminal hairs compared to vellus hairs.|HPO|N|
C5139385|A terminal:vellus ratio under 4:1 is characteristic of androgenetic alopecia.|HPO|N|
C5139386|The presence of abnormally large granules in neutrophils. This finding can be appreciated on a peripheral blood smear. The finding is characteristic of Chediak Higashi syndrome. The giant granules are derived from azurophil granules, whereas peroxidase-negative granules are not involved in their formation.|HPO|N|
C5139391|Fasciculations affecting the tongue muscle and the musculature of the chin.|HPO|N|
C5139392|Habitual insertion of foreign bodies into bodily orifices.|HPO|N|
C5139393|The position of the umbilicus (belly button) is abnormally high (superior).|HPO|N|
C5139394|A congenital developmental anomaly characterized by the presence of an additional lacrimal punctum in an eyelid.|HPO|N|
C5139395|Infection that extends deeply into the dermis by dermatophytes, fungi that typically cause different types of superficial infection (tinea) or skin, hair, or nails.|HPO|N|
C5139396|Burr cells, also known as echinocytes, have a speculated border over the entire cell surface. Burr cells are commonly found in both end-stage renal disease and liver disease. Small numbers of Burr cells are commonly found in healthy individuals.|HPO|N|
C5139397|Reduced strength of the masseter muscle, whose primary function is to elevate the mandible and thereby raise the mandible towards the maxilla, closing the jaw.|HPO|N|
C5139398|Involuntary, tic-like movements consisted of crossing both arms across the chest and tensing the body or clasping the hands and squeezing the arms to the sides. The movements last a few seconds and may occur in series or flurries, generally accompanied by facial grimacing and occasional grunting.|HPO|N|
C5139402|The position of the umbilicus (belly button) is abnormally low (inferior).|HPO|N|
C5139403|An increased amount of 4-hydroxybutyric acid in the urine.|HPO|N|
C5139405|Reduced level of succinic semialdehyde dehydrogenase (SSADH).|HPO|N|
C5139407|Abnormally increased level of 4-hydroxybutyric acid in the cerebrospinal fluid (CSF).|HPO|N|
C5139411|An abnormally elevated number of lymph nodes in an anatomical region.|HPO|N|
C5139415|Expectoration (coughing up) of a broncholith. Broncholithiasis is defined as the presence of calculi in the tracheobronchial tree. It is a rare disease but can be characterized by clinical and radiological findings of a calcified lymph node eroding bronchial wall and opening into the bronchial lumen.|HPO|N|
C5139417|Any deviation from the normal concentration in the blood circulation of a hormone that is involved in the regulation of phosphate and calcium.|HPO|N|
C5139419|Detection of norcotinine, a metabolite of nicotine, in urine.|HPO|N|
C5139420|An abnormal deviation from normal levels of IgA immunoglobulin in blood.|HPO|N|
C5139421|An abnormal deviation from normal levels of IgE immunoglobulin in blood.|HPO|N|
C5139422|An abnormal deviation from normal levels of IgG immunoglobulin in blood.|HPO|N|
C5139423|An abnormal deviation from normal levels of IgM immunoglobulin in blood.|HPO|N|
C5139424|An abnormal deviation from normal levels of IgD immunoglobulin in blood.|HPO|N|
C5139425|Increased level of IgE antibody against animal dander, tiny scales shed from animal skin or hair, such as from pet dogs or cats.|HPO|N|
C5139426|Increased level of IgE antibody against house dust mites, a common allergen.|HPO|N|
C5139427|Increased level of IgE antibody against galactose-alpha-1, 3 galactose (alpha-gal), a carbohydrate found in mammalian meat.|HPO|N|
C5139428|An abnormality in the cleavage of L-selectin during the process of guiding neutrophils to the site of infection. Proteolytic cleavage of L-selectin results in rapid shedding from the cell surface, which has a role in neutrophil rolling and accumulation at the site of infection.|HPO|N|
C5139430|Cyclic neutropenia arising from an impaired proliferation and maturation of myeloid progenitor cells in the bone marrow.|HPO|N|
C5139431|A transient reduction in the number of neutrophils in the peripheral blood. Transient neutropenia is most commonly associated with viral infections, but other causes include drugs and autoimmunity.|HPO|N|
C5139432|Transient neutropenia caused by an infection, such as with a virus, bacteria or protozoan.|HPO|N|
C5139433|An increased number of neutrophils circulating in the blood during an infection, such as with a bacteria, virus or fungus.|HPO|N|
C5139434|An increased number of neutrophils circulating in the blood in the absence of an infection. Factors contributing to neutrophilia could include inflammation or congenital disorders.|HPO|N|
C5139435|A widely spaced gap between the fourth toe and the fifth (pinky) toe.|HPO|N|
C5139436|A functional abnormality affecting the lower cranial nerves, which include the paired 9th (glossopharyngeal), 10th (vagal), 11th (accessory) and 12th (hypoglossal) cranial nerves.|HPO|N|
C5139437|A hemangioma, a benign tumor of the vascular endothelial cells, located in the upper part of the larynx (voice box) including the epiglottis; the area above the vocal cords.|HPO|N|
C5139438|A hemangioma arising from within visceral structures, the internal organs of the body.|HPO|N|
C5139439|A hemangioma, a benign tumor of the vascular endothelial cells, located in the intestines, which includes the bowel.|HPO|N|
C5139440|A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the upper lip.|HPO|N|
C5139441|A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the glottic or supraglottic regions.|HPO|N|
C5139442|A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the retropharyngeal space, the portion of the peripharyngeal space that is located posterior to the pharynx.|HPO|N|
C5139443|A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the paraspinal muscular region, the muscles next to the spine.|HPO|N|
C5139444|A spinal cord hemangioma located in the lumbosacral spine region.|HPO|N|
C5139445|Partial or complete wasting (loss) of the pituitary gland.|HPO|N|
C5139447|A deviation from the normal concentration of amylase in the blood, an enzyme which helps digest glycogen and starch. It is produced mainly in the pancreas and salivary glands.|HPO|N|
C5139448|Detection of acetaminophen in the blood.|HPO|N|
C5139449|Detection of norpropoxyphene in the blood, a major metabolite of the opioid analgesic drug dextropropoxyphene.|HPO|N|
C5139450|Detection of methadone or its metabolite 2-ethylidene-1,5-dimethyl-3,3- diphenylpyrrolidine (EDDP) in meconium.|HPO|N|
C5139451|Detection of molindone in the blood, an antipyschotic used for treatment of schizophrenia.|HPO|N|
C5139452|A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the intrathoracic or chest region.|HPO|N|
C5139453|Decreased level of amylase in the blood, an enzyme which helps digest glycogen and starch. It is produced mainly in the pancreas and salivary glands.|HPO|N|
C5139454|Detection of norpropoxyphene in urine.|HPO|N|
C5139455|An abnormal level of isohemagglutinin in the blood. An isohemagglutinin refers to the naturally occurring antibodies in the ABO blood group system (i.e., anti-A in a group B person, anti-B in a group A person, and anti-A, anti-B, and anti-A,B in a group O person).|HPO|N|
C5139456|Absent or undetectable level of isohemagglutinin. An isohemagglutinin refers to the naturally occurring antibodies in the ABO blood group system (i.e., anti-A in a group B person, anti-B in a group A person, and anti-A, anti-B, and anti-A,B in a group O person).|HPO|N|
C5139457|A reduced ability to synthesize postvaccination antibodies against proteins in vaccines, as measured by antibody titer determination following vaccination.|HPO|N|
C5139458|The inability to synthesize postvaccination antibodies against a tetanus antigen, as measured by antibody titer determination following vaccination.|HPO|N|
C5139459|The inability to synthesize postvaccination antibodies against a hepatisis B antigen, as measured by antibody titer determination following vaccination.|HPO|N|
C5139460|A reduced ability to synthesize postvaccination antibodies against a tetanus antigen, as measured by antibody titer determination following vaccination.|HPO|N|
C5139461|A reduced ability to synthesize postvaccination antibodies against a hepatitis B antigen, as measured by antibody titer determination following vaccination.|HPO|N|
C5139462|A reduced ability to synthesize postvaccination antibodies against polysaccharides in vaccines, as measured by antibody titer determination following vaccination.|HPO|N|
C5139463|The inability to synthesize postvaccination antibodies against a pneumococcus antigen, as measured by antibody titer determination following vaccination.|HPO|N|
C5139464|A reduced ability to synthesize postvaccination antibodies against a pneumococcus antigen, as measured by antibody titer determination following vaccination.|HPO|N|
C5139465|A reduced ability to synthesize postvaccination antibodies against protein-conjugated polysaccharides in vaccines, as measured by antibody titer determination following vaccination.|HPO|N|
C5139466|The inability to synthesize postvaccination antibodies against a Haemophilus influenzae type b (Hib) antigen, as measured by antibody titer determination following vaccination.|HPO|N|
C5139467|The inability to synthesize postvaccination antibodies against a meningococcus antigen, as measured by antibody titer determination following vaccination.|HPO|N|
C5139468|A reduced ability to synthesize postvaccination antibodies against a Haemophilus influenzae type b (Hib) antigen, as measured by antibody titer determination following vaccination.|HPO|N|
C5139469|A reduced ability to synthesize postvaccination antibodies against a meningococcus antigen, as measured by antibody titer determination following vaccination.|HPO|N|
C5139470|Detection of methadone and its metabolites in the stool.|HPO|N|
C5139471|A reduced ability to synthesize antibodies against antigens from an infectious agent or pathogen (such as bacteria, viruses, parasites, etc.), as measured by antibody titer determination following infection.|HPO|N|
C5139472|An abnormal form or size of neutrophils in the cerebrospinal fluid.|HPO|N|
C5139473|Hyposegmented (hypolobulated) or bilobed neutrophil nuclei in the cerebrospinal fluid.|HPO|N|
C5139474|An excessive division of the lobes of the nucleus of a neutrophil in the cerebrospinal fluid.|HPO|N|
C5139475|Abnormal concentration of 1-methylhistidine in the urine.|HPO|N|
C5139476|Decreased concentration of 1-methylhistidine in the urine.|HPO|N|
C5139477|Increased concentration of 1-methylhistidine in the urine.|HPO|N|
C5139478|Abnormal amount of 3-methylhistidine in the urine.|HPO|N|
C5139479|Increased concentration of 3-methylhistidine in the urine.|HPO|N|
C5139480|Decreased concentration of 3-methylhistidine in the urine.|HPO|N|
C5139484|Hypersensitivity in form of an adverse immune reaction against bacteria.|HPO|N|
C5139489|Hypersensitivity in form of an adverse immune reaction against dairy.|HPO|N|
C5139492|Hypersensitivity in form of an adverse immune reaction against gluten.|HPO|N|
C5139496|Hypersensitivity in form of an adverse immune reaction against plant based food allergens.|HPO|N|
C5139503|Hypersensitivity in form of an adverse immune reaction against plant products.|HPO|N|
C5139506|An abnormal level of heparan sulfate in the blood.|HPO|N|
C5139507|An abnormal increase in the concentration of heparan sulfate in the blood.|HPO|N|
C5139508|An abnormal decrease in the concentration of heparan sulfate in the blood.|HPO|N|
C5139509|Decreased length of O-fucosylated glycans present on properdin.|HPO|N|
C5139510|An abnormal increase in the concentration of polyhexose in the urine.|HPO|N|
C5139511|An abnormal increase in the concentration of galactosylated oligosaccharides in urine.|HPO|N|
C5139512|An abnormal increase in the concentration of high-mannose-type oligosaccharides in the urine.|HPO|N|
C5139513|An abnormal increase in the concentration of multiantennary sialylated oligosaccharides in the urine.|HPO|N|
C5139514|An abnormal decrease in glycosyltransferase O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase enzymatic level.|HPO|N|
C5139515|An abnormal increase in the concentration of small fucosylated oligosaccharides in the urine.|HPO|N|
C5139516|An abnormal concentration of complex N-glycans on glycoproteins.|HPO|N|
C5139517|An abnormal increase in the concentration of complex N-glycans on glycoproteins.|HPO|N|
C5139518|An abnormal decrease in the concentration of complex N-glycans on glycoproteins.|HPO|N|
C5139519|An abnormal increase in the concentration of sialylated N-glycans on glycoproteins.|HPO|N|
C5139520|An abnormal decrease in the concentration of sialylated N-glycans on glycoproteins.|HPO|N|
C5139521|An abnormal concentration of high-mannose N-glycans on glycoproteins.|HPO|N|
C5139522|An abnormal increase in the concentration of high-mannose N-glycans on glycoproteins.|HPO|N|
C5139523|An abnormal decrease in the concentration of high-mannose N-glycans on glycoproteins.|HPO|N|
C5139524|An abnormal in the concentration of core 1 O-glycans on glycoproteins.|HPO|N|
C5139525|An abnormal increase in the concentration of core 1 O-glycans on glycoproteins.|HPO|N|
C5139526|An abnormal decrease in the concentration of core 1 O-glycans on glycoproteins.|HPO|N|
C5139527|An abnormal increase in the concentration of monosialylated core 1 O-glycans on glycoproteins.|HPO|N|
C5139528|An abnormal decrease in the concentration of monosialylated core 1 O-glycans on glycoproteins.|HPO|N|
C5139529|An abnormal increase in the concentration of disialylated core 1 O-glycans on glycoproteins.|HPO|N|
C5139530|An abnormal increase in the concentration of globoside Gb4.|HPO|N|
C5139531|An abnormal increase in the concentration of glycolipid globoside Gb3.|HPO|N|
C5139532|The absence of ganglioside GM3.|HPO|N|
C5139533|An abnormal increase in the concentration of Tn antigen on glycoproteins.|HPO|N|
C5139534|Any abnormality in the proportion of naive CD4 T cells relative to the total number of T cells.|HPO|N|
C5139535|Any abnormality in the proportion of naive CD8 T cells relative to the total number of T cells.|HPO|N|
C5139537|An abnormally increased proportion of naive CD8 T cells relative to the total number of T cells.|HPO|N|
C5139538|An abnormally reduced proportion of naive CD8 T cells relative to the total number of T cells.|HPO|N|
C5139539|An abnormally reduced proportion of naive CD4 T cells relative to the total number of T cells.|HPO|N|
C5139540|An abnormal proportion of CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CD45RO-positive and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high.|HPO|N|
C5139541|An abnormal proportion of CD8-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. A CD8-positive, alpha-beta T cell with memory phenotype is CD45RO and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high.|HPO|N|
C5139542|An abnormal proportion of central memory CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CCR7-positive, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative.|HPO|N|
C5139544|An abnormal proportion of effector memory CD8-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative.|HPO|N|
C5139545|An abnormal proportion of central memory CD8-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-positive, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative.|HPO|N|
C5139546|Decreased proportion of CD8-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. A CD8-positive, alpha-beta T cell with memory phenotype is CD45RO and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high.|HPO|N|
C5139547|Decresaed proportion of CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CD45RO-positive and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high.|HPO|N|
C5139549|A reduced proportion of central memory CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CCR7-positive, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative.|HPO|N|
C5139550|A reduced proportion of CD8-positive, alpha-beta central memory T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative.|HPO|N|
C5139551|A reduced proportion of CD8-positive, alpha-beta effector memory T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative.|HPO|N|
C5139552|An abnormally elevated proportion of CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CD45RO-positive and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high.|HPO|N|
C5139553|An abnormally elevated proportion of CD8-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype CD45RO and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high.|HPO|N|
C5139554|An abnormally elevated proportion of central memory CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CCR7-positive, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative.|HPO|N|
C5139555|An abnormally elevated proportion of effector memory CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative.|HPO|N|
C5139556|An increased proportion of effector memory CD8-positive, alpha-beta T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative.|HPO|N|
C5139557|An increased proportion of central memory CD8-positive, alpha-beta T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-positive, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative.|HPO|N|
C5139558|Absence of the sebaceous gland, the holocrine gland that secretes sebum into the hair follicles, or in hairless areas into ducts.|HPO|N|
C5139560|Any deviation from the normal concentration of aspartate in the blood circulation.|HPO|N|
C5139561|An abnormal decrease in ornithine in the blood.|HPO|N|
C5139562|An abnormality of carbon dioxide (CO2) in the arterial blood.|HPO|N|
C5139563|An abnormal concentration of gastrin in the blood.|HPO|N|
C5139564|An abnormal amount of acylcarnitine in the urine.|HPO|N|
C5139566|An increased amount of taurine in the blood.|HPO|N|
C5139567|A decreased amount of taurine in the blood.|HPO|N|
C5139568|Any deviation from the normal concentration of a carboxylic acid in the cerebrospinal fluid.|HPO|N|
C5139569|Any deviation from the normal concentration of amino acids in the cerebrospinal fluid.|HPO|N|
C5139570|Any deviation from the normal concentration of branched-chain amino acids in the cerebrospinal fluid.|HPO|N|
C5139571|Any deviation from the normal concentration of valine in the cerebrospinal fluid.|HPO|N|
C5139572|Any increased amount from normal of valine in the cerebrospinal fluid.|HPO|N|
C5139573|Any decreased amount from normal of valine in the cerebrospinal fluid.|HPO|N|
C5139574|Any deviation from the normal concentration of leucine in the cerebrospinal fluid.|HPO|N|
C5139575|Abnormally decreased levels of leucine in the cerebrospinal fluid.|HPO|N|
C5139576|Abnormally increased levels of leucine in cerebrospinal fluid.|HPO|N|
C5139577|Any deviation from the normal concentration of isoleucine in the cerebrospinal fluid.|HPO|N|
C5139578|Abnormally increased levels of isoleucine in cerebrospinal fluid.|HPO|N|
C5139579|Abnormally decreased levels of isoleucine in cerebrospinal fluid.|HPO|N|
C5139580|Any deviation from the normal concentration of glutamine-family amino acids in the cerebrospinal fluid.|HPO|N|
C5139581|Any deviation from the normal concentration of glutamine amino acids in the cerebrospinal fluid.|HPO|N|
C5139582|Abnormally increased levels of glutamine in cerebrospinal fluid.|HPO|N|
C5139583|Abnormally decreased levels of glutamine in cerebrospinal fluid.|HPO|N|
C5139584|Any deviation from the normal concentration of glutamic acid in the cerebrospinal fluid.|HPO|N|
C5139585|Abnormally increased levels of glutamic acid in cerebrospinal fluid.|HPO|N|
C5139586|Abnormally decreased levels of glutamic acid in cerebrospinal fluid.|HPO|N|
C5139587|Any deviation from the normal concentration of arginine in the cerebrospinal fluid.|HPO|N|
C5139588|Abnormally increased levels of arginine in cerebrospinal fluid.|HPO|N|
C5139589|Abnormally decreased levels of arginine in cerebrospinal fluid.|HPO|N|
C5139590|Any deviation from the normal concentration of aspartate-family amino acids in the cerebrospinal fluid.|HPO|N|
C5139591|Any deviation from the normal concentration of lysine in the cerebrospinal fluid.|HPO|N|
C5139592|Abnormally decreased levels of lysine in cerebrospinal fluid.|HPO|N|
C5139593|Abnormally increased levels of lysine in cerebrospinal fluid.|HPO|N|
C5139594|Any deviation from the normal concentration of methionine in the cerebrospinal fluid.|HPO|N|
C5139595|Concentration of methionine in the cerebrospinal fluid above the upper limit of normal.|HPO|N|
C5139596|Any deviation from the normal concentration of threonine in the cerebrospinal fluid.|HPO|N|
C5139597|Abnormally increased levels of threonine in cerebrospinal fluid.|HPO|N|
C5139598|Abnormally decreased levels of threonine in cerebrospinal fluid.|HPO|N|
C5139599|Any deviation from the normal concentration of aromatic amino acids in the cerebrospinal fluid.|HPO|N|
C5139600|Any deviation from the normal concentration of phenylalanine in the cerebrospinal fluid.|HPO|N|
C5139601|Any deviation from the normal concentration of aspartic acid in the cerebrospinal fluid.|HPO|N|
C5139602|Abnormally increased levels of aspartic acid in cerebrospinal fluid.|HPO|N|
C5139603|Any deviation from the normal concentration of tryptophan in the cerebrospinal fluid.|HPO|N|
C5139604|Any deviation from the normal concentration of tyrosine in the cerebrospinal fluid.|HPO|N|
C5139605|Abnormally increased levels of tyrosine in cerebrospinal fluid.|HPO|N|
C5139606|Abnormally decreased levels of tyrosine in cerebrospinal fluid.|HPO|N|
C5139607|Abnormally increased levels of tryptophan in cerebrospinal fluid.|HPO|N|
C5139608|Abnormally increased levels of phenylalanine in cerebrospinal fluid.|HPO|N|
C5139609|Abnormally decreased levels of phenylalanine in cerebrospinal fluid.|HPO|N|
C5139610|Any deviation from the normal concentration of serine-family amino acids in the cerebrospinal fluid.|HPO|N|
C5139611|Any deviation from the normal concentration of serine in the cerebrospinal fluid.|HPO|N|
C5139612|Abnormally increased levels of serine in cerebrospinal fluid.|HPO|N|
C5139613|Abnormally decreased levels of serine in cerebrospinal fluid.|HPO|N|
C5139614|Any deviation from the normal concentration of glycine in the cerebrospinal fluid.|HPO|N|
C5139615|Abnormally increased levels of glycine in cerebrospinal fluid.|HPO|N|
C5139616|Any deviation from the normal concentration of pyruvate-family amino acids in the cerebrospinal fluid.|HPO|N|
C5139617|Any deviation from the normal concentration of alanine in the cerebrospinal fluid.|HPO|N|
C5139618|Abnormally increased levels of alanine in cerebrospinal fluid.|HPO|N|
C5139619|Abnormally decreased levels of alanine in cerebrospinal fluid.|HPO|N|
C5139620|Any deviation from the normal concentration of histidine in the cerebrospinal fluid.|HPO|N|
C5139621|Abnormally increased levels of histidine in cerebrospinal fluid.|HPO|N|
C5139622|Abnormally decreased levels of histidine in cerebrospinal fluid.|HPO|N|
C5139623|Any deviation from the normal concentration of albumin in the cerebrospinal fluid.|HPO|N|
C5139625|Any deviation from the normal concentration of carnosine in the cerebrospinal fluid.|HPO|N|
C5139626|Any deviation from the normal concentration of homocarnosine in the cerebrospinal fluid.|HPO|N|
C5139627|Abnormally increased levels of homocarnosine in cerebrospinal fluid.|HPO|N|
C5139628|Any deviation from the normal concentration of ornithine in the cerebrospinal fluid.|HPO|N|
C5139629|Abnormally increased levels of ornithine in cerebrospinal fluid.|HPO|N|
C5139630|Any deviation from the normal concentration of citrulline in the cerebrospinal fluid.|HPO|N|
C5139631|Abnormally increased levels of citrulline in cerebrospinal fluid.|HPO|N|
C5139632|Any deviation from the normal concentration of alpha-aminobutyrate in the cerebrospinal fluid.|HPO|N|
C5139633|Concentration of alpha-aminobutyrate in the cerebrospinal fluid above the upper limit of normal.|HPO|N|
C5139634|Any deviation from the normal concentration of ethanolamine in circulation.|HPO|N|
C5139635|Abnormally increased levels of ethanolamine in circulation.|HPO|N|
C5139636|Abnormal concentration of sebacic acid in the urine.|HPO|N|
C5139637|Elevated concentration of sebacic acid in the urine.|HPO|N|
C5139638|Abnormal concentration of hexanoylglycine in the urine.|HPO|N|
C5139639|Elevated concentration of hexanoylglycine in the urine.|HPO|N|
C5139640|Abnormal concentration of isobutyrylglycine in the urine.|HPO|N|
C5139641|Elevated concentration of isobutyrylglycine in the urine.|HPO|N|
C5139642|Abnormal amount of carbon dioxide in umbilical cord blood|HPO|N|
C5139643|An abnormal level of blood oxygen in the cord blood.|HPO|N|
C5139646|Infection with the rubella virus of the live-attenuated vaccine.|HPO|N|
C5139647|An unusually severe infection due to Giardia lamblia, also called Giardia duodenalis or Giardia intestinalis, which is a protozoan parasite of the small intestine that causes extensive morbidity worldwide.|HPO|N|
C5139649|An deviation from the normal concentration of sarcosine in the blood circulation.|HPO|N|
C5139650|Any deviation from the normal concentration of a long-chain fatty acid in the blood circulation.|HPO|N|
C5139651|Abnormally high fecal pH, i.e., abnormal alkalinity of feces.|HPO|N|
C5139652|An elevation above the normal concentration of the HDL2a subfraction in the blood circulation. An HDL2a particle is defined as an HDL particle with a size of 8.80-9.69 nm.|HPO|N|
C5139654|The presence of autoantibodies (immunoglobulins) in the serum that react against myelin-associated glycoprotein (MAG).|HPO|N|
C5139655|A reduction below the normal concentration of a subclass of immunoglobulin G (IgG) in the blood.|HPO|N|
C5190512|A rare chromosomal anomaly with characteristics of variable clinical features that may include developmental delay, mild intellectual disability and dysmorphic facial features. In some cases, microcephaly, growth retardation and congenital heart defects have been reported.|SNOMEDCT_US|N|
C5190513|A rare malignant germ cell tumor that occur in the midline of the body as a result of abnormal germ cell migration during embryogenesis. Clinical manifestations are variable and depend on the location and size of the tumor. Central nervous system tumor might present with headache, visual disturbances, endocrine abnormalities, and signs of increased intracranial pressure. A mediastinal tumor commonly presents with chest pain, dyspnea, cough and fever. Abdominal mass with or without pain, backache and weight loss are common clinical presentations in retroperitoneal tumor.|SNOMEDCT_US|N|
C5190514|A partial autosomal monosomy with characteristics of a variable combination of craniofacial, developmental, digital, skeletal, and cardiac features: hypotonia, developmental delay, growth deficiency, cleft palate, cardiovascular malformations, abnormalities of the hands and feet and typical dysmorphic features, such as microcephaly, rounded facies, small eyes, broad nasal bridge, upturned nose, full cheeks, small mouth and chin.|SNOMEDCT_US|N|
C5190515|A partial autosomal monosomy with characteristics of developmental delay and intellectual disability, digital anomalies, congenital heart and urogenital anomalies and specific craniofacial features commonly including craniosynostosis.|SNOMEDCT_US|N|
C5190516|A rare partial autosomal trisomy with characteristics of a variable phenotype that includes hypotonia, motor delay, mild to severe intellectual disability, seizures, variable cerebral anomalies, finger/toe syndactyly, fifth finger clinodactyly, strabismus, short neck and dysmorphic facial features.|SNOMEDCT_US|N|
C5190517|A low-grade central nervous system tumor composed of dysplastic ganglion cells, usually presenting in children or young adults and located in the cerebral hemispheres.|HPO|N|
C5190522|A rare genetic non-syndromic limb malformation with characteristics of delayed union or non-union of a long bone, resulting in formation of a false joint, with abnormal mobility and angulation at the pseudoarthrosis site, which manifests with progressive anterolateral forearm or leg bowing, limb shortening, and non-healing fractures. Typical histopathological findings include fibromatosis-like proliferation in the soft tissues with cystic or dysplastic lesions. Neurofibromatosis and osteofibrous dysplasia are frequently associated.|SNOMEDCT_US|N|
C5190523|Maternal uniparental disomy of chromosome 21 is a uniparental disomy of maternal origin that does not seem to have an adverse impact on the phenotype of an individual. There is a possibility of homozygosity for a recessive disease mutation for which the mother is a carrier and specific phenotype depends on the inherited disorder.|SNOMEDCT_US|N|
C5190524|Maternal uniparental disomy of chromosome 22 is a uniparental disomy of maternal origin that does not seem to have an adverse impact on the phenotype of an individual. There is a possibility of homozygosity for a recessive disease mutation for which the mother is a carrier and specific phenotype depends on the inherited disorder.|SNOMEDCT_US|N|
C5190525|A partial autosomal monosomy with characteristics of a variable combination of developmental delay, intellectual disability, ectodermal, genitourinary and minor cardiac anomalies and specific dysmorphic features (prominent forehead and low-set ears). Specific combination depends on the size and breakpoints of deleted regions.|SNOMEDCT_US|N|
C5190526|A rare genetic isolated dystonia initially presenting as torticollis and later progressing to segmental or generalised dystonia. Dysphonia and dysarthria also occur later in the disease course.|SNOMEDCT_US|N|
C5190573|A rare genetic persistent combined dystonia disorder characterized by slowly progressive severe caudo-rostrally spreading generalized dystonia with prominent facial and oro-mandibular involvement leading to severe anarthria and/or aphonia, swallowing difficulties and gait disturbances. Additional manifestations include slowed horizontal saccades, subclinical epilepsy, photic myoclonus, oral hypertrophic changes (for example gingival or lingual hyperplasia) as well as delayed milestones and cognitive impairment.|SNOMEDCT_US|N|
C5190574|Autosomal recessive spinocerebellar ataxia-16 (SCAR16) is a progressive neurologic disorder characterized by truncal and limb ataxia, resulting in gait instability, associated with cerebellar atrophy on brain imaging. Most patients have onset in the teenage years, although earlier and later onset have been reported. Additional features may include dysarthria, nystagmus, hyperreflexia of the lower limbs, and mild peripheral sensory neuropathy. Some patients have gonadal dysfunction or hypogonadism and/or cognitive deficits. The phenotype represents a spectrum or continuum of neurodegenerative features that may overlap with those of SCA48 (summary by Shi et al., 2013 and Ravel et al., 2021).|OMIM|N|
C5190575|Pontocerebellar hypoplasia type 10 is an autosomal recessive neurodevelopmental and neurodegenerative disorder characterized by severely delayed psychomotor development, progressive microcephaly, spasticity, seizures, and brain abnormalities, including brain atrophy and delayed myelination. Some patients have dysmorphic features and an axonal sensorimotor neuropathy (summary by Karaca et al., 2014 and Schaffer et al., 2014).
For a general phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1 (607596).|OMIM|N|
C5190576|A rare genetic syndromic intellectual disability disorder characterized by intellectual disability, significant motor delay, severe speech impairment, early-onset truncal hypotonia with progressive distal hypertonia/spasticity, microcephaly, and behavioral anomalies (autistic features, aggression or auto-aggressive behavior, sleep disturbances). Variable facial dysmorphism includes broad nasal tip with small alae nasi, long and/or flat philtrum, thin upper lip vermillion. Visual impairment (strabismus, hyperopia, myopia) is commonly associated.|SNOMEDCT_US|N|
C5190577|Autosomal recessive spastic paraplegia type 69 is a rare, complex hereditary spastic paraplegia disorder with characteristics of infantile onset of progressive lower limb spasticity, global developmental delay, hyperreflexia, clonus and extensor plantar reflexes, associated with dysarthria, intellectual disability, cataracts and hearing impairment.|SNOMEDCT_US|N|
C5190578|Autosomal recessive spastic paraplegia type 71 is a rare genetic pure hereditary spastic paraplegia disorder with characteristics of infancy onset of crural spastic paraparesis with scissors gait, extensor plantar response and increased tendon reflexes. Neuroimaging reveals a thin corpus callosum and electromyography and nerve conduction velocity studies are normal.|SNOMEDCT_US|N|
C5190582|A rare syndromic intellectual disability characterised by intellectual disability of various severity, hypotonia, feeding difficulties, dysmorphic features, autism and behavioural issues. Growth retardation, congenital heart anomalies, gastrointestinal and genitourinary defects have been rarely associated. Caused by heterozygous mutation in the SETD5 gene on chromosome 3p25.|SNOMEDCT_US|N|
C5190583|A rare genetic central nervous system malformation syndrome with characteristics of congenital progressive microcephaly, neonatal to infancy-onset of severe intractable seizures and diffuse cerebral cortex and cerebellar vermis atrophy with mild cerebellar hemisphere atrophy associated with profound global developmental delay. Hypotonia or hypertonia with brisk reflexes, variable dysmorphic facial features, ophthalmological signs (cortical visual impairment, nystagmus, eye deviation) and episodes of sudden extreme agitation caused by severe illness may also be associated. Caused by compound heterozygous mutation in the QARS gene on chromosome 3p21.|SNOMEDCT_US|N|
C5190584|A rare genetic syndromic sterol biosynthesis disorder affecting males. The disease has characteristics of skin manifestations including collodion membrane, ichthyosis and patchy hypopigmented lesions associated with severe neurological involvement (for example intellectual disability, delayed psychomotor development, seizures, hydrocephalus, cerebellar/corpus callosum hypoplasia, Dandy-Walker malformation, hypotonia) and craniofacial dysmorphism (large anterior fontanelle, telecanthus, hypertelorism, microphthalmia, prominent nasal bridge, low-set ears, micrognathia, cleft palate). Toe syndactyly, polydactyly and kyphosis as well as ophthalmic, cardiac and urogenital anomalies may also be associated. There is evidence the disease is caused by hemizygous mutation in the EBP gene on chromosome Xp11.|SNOMEDCT_US|N|
C5190585|A rare subtype of axonal hereditary motor and sensory neuropathy with characteristics of distal muscle weakness and atrophy (principally of peroneal muscles) associated with distal sensory loss (tactile, vibration), pes cavus present since infancy or childhood and axonal swelling with neurofilament accumulation on nerve biopsy. Other features may include hand muscle involvement, hypo/areflexia, gait disturbances, muscle cramps, toe abnormalities and mild cardiomyopathy. There is evidence this disease is caused by heterozygous mutation in the DCAF8 gene on chromosome 1q23.|SNOMEDCT_US|N|
C5190586|A rare genetic neurodegenerative disease characterized by movement disorders, including dystonia, chorea, myoclonus, tremor and rigidity. Associated features are also cognitive and memory impairment, early psychiatric disturbances and behavioral problems.|SNOMEDCT_US|N|
C5190589|Autosomal recessive spastic paraplegia type 60 is a rare, complex hereditary spastic paraplegia disorder with characteristics of infantile onset of progressive lower limb spasticity, inability to walk, hypertonia and impaired vibration sense at ankles, with complicating signs including sensory impairment, nystagmus, motor axonal neuropathy and mild intellectual disability.|SNOMEDCT_US|N|
C5190590|Autosomal recessive spastic paraplegia type 66 is a rare, complex hereditary spastic paraplegia disorder with characteristics of infantile onset of progressive lower limb spasticity, severe gait disturbances leading to a non-ambulatory state, absent deep tendon reflexes and amyotrophy. Additional signs include severe sensorimotor neuropathy, pes equinovarus and mild intellectual disability. Cerebellar and corpus callosum hypoplasia, as well as colpocephaly, are observed on neuroimaging.|SNOMEDCT_US|N|
C5190592|A rare hereditary primary immunodeficiency characterised by recurrent respiratory tract infection, otitis media, candidiasis, diarrhoea, as well as various signs and symptoms of immune dysregulation (hypereosinophilia, eczema, vitiligo, alopecia areata, autoimmune haemolytic anaemia, pityriasis rubra pilaris). Failure to thrive, moderate lymphadenopathy and hepatomegaly have also been reported. There is evidence the disease is caused by homozygous mutation in the TRAC gene on chromosome 14q11.|SNOMEDCT_US|N|
C5190594|A rare syndromic genetic deafness with characteristics of a combination of muscle weakness, chronic neuropathic and myopathic features, hoarseness and sensorineural hearing loss. A wide range of disease onset and severity has been reported even within the same family. There is evidence the disease is caused by heterozygous mutation in the MYH14 gene on chromosome 19q13.|SNOMEDCT_US|N|
C5190595|Autosomal recessive spinocerebellar ataxia-20 is a neurodevelopmental disorder characterized by severely delayed psychomotor development with poor or absent speech, wide-based or absent gait, coarse facies, and cerebellar atrophy (summary by Thomas et al., 2014).|OMIM|N|
C5190596|A rare genetic eye disease with characteristics of foveal hypoplasia, optic nerve misrouting with an increased number of axons decussating at the optic chiasm and innervating the contralateral cortex, and posterior embryotoxon or Axenfeld anomaly (indicating anterior segment dysgenesis), in the absence of albinism. Patients present congenital nystagmus, decreased visual acuity, refractive errors and occasionally strabismus. Microphthalmia and retinochoroidal coloboma may also be associated. There is the disease is caused by homozygous or compound heterozygous mutation in the SLC38A8 gene on chromosome 16q23.|SNOMEDCT_US|N|
C5190597|A rare genetic syndromic intellectual disability disorder with characteristics of congenital, persistent microcephaly, low birth weight, short stature, childhood-onset seizures, global development delay, mild intellectual disability, and adolescent or young adult-onset diabetes mellitus. Gait ataxia, skeletal abnormalities, dorsocervical fat pad and infantile cirrhosis may also be associated. Brain morphology is typically normal, although delayed myelination and hypoplastic brainstem have been reported.|SNOMEDCT_US|N|
C5190598|A rare genetic peripheral neuropathy disorder characterized by recurrent stereotyped episodic intense pain occurring predominantly in either the upper body or lower limbs in several members of a family. The pain is triggered or exacerbated by fatigue, cold exposure, fasting, weather changes and/or physical stress or exertion and may or may not diminish with age. Sweating and other manifestations such as tachycardia, breathing difficulties and generalized pallor may be associated.|SNOMEDCT_US|N|
C5190599|Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome is a rare, genetic, congenital limb malformation syndrome characterized by bilateral short broad thumbs, short deviated index fingers, clinodactyly of the fifth fingers, broad, valgus-deviated halluces and laterally-deviated, overlapping second toe, associated with severe pectus excavatum and craniofacial dysmorphism (including brachycephaly, low anterior hairline, flat supraorbital ridges, telecanthus, upslanting palpebral fissures, maxillary hypoplasia, posteriorly rotated ears, microsomia and micrognathia). Radiological findings include thumb, index, and middle finger hyperphalangy, with severe delta phalanxes in affected fingers and halluces.|ORDO|N|
C5190600|A rare genetic constitutional dyserythropoietic anaemia disorder characterised by moderate to severe anaemia without thrombocytopenia, variable degrees of neutropenia and bone marrow biopsy findings of trilineage dysplasia and hypocellularity of erythroid and granulocytic lineages. Peripheral blood findings include anisocytosis, macrocytosis, poikilocytosis, elliptocytes, and fragmented erythrocytes. Caused by mutation in the GATA1 gene on chromosome Xp11.|SNOMEDCT_US|N|
C5190602|A rare genetic mitochondrial DNA depletion syndrome characterized by neonatal or early-infantile onset hepatopathy (manifesting with hepatomegaly, cholestasis, increased transaminases, coagulopathy, hypoalbuminemia, ascites, and/or liver failure), associated with renal tubulopathy and progressive neurodegenerative manifestations, which include muscular atrophy, hyporeflexia, ataxia, sensory neuropathy, epilepsy, sensorineural hearing impairment, psychomotor regression, athetosis, nystagmus, and/or ophthalmoplegia. Patients typically present with recurrent vomiting, severe failure to thrive, feeding difficulties, and fasting hypoglycemia.|SNOMEDCT_US|N|
C5190603|A rare fatal inborn error of metabolism disorder with characteristics of respiratory distress and severe hypotonia at birth, severe global developmental delay, early-onset intractable seizures, myopathic facies with craniofacial dysmorphism (trigonocephaly/progressive microcephaly, low anterior hairline, arched eyebrows, hypotelorism, strabismus, small nose, prominent philtrum, thin upper lip, high-arched palate, micrognathia, malocclusion), severe, congenital flexion joint contractures and elevated serum creatine kinase levels. Scoliosis, optic atrophy, mild hepatomegaly, and hypoplastic genitalia may also be associated. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the DPM2 gene on chromosome 9q34.|SNOMEDCT_US|N|
C5190604|A rare genetic vascular disorder with characteristics of severe aneurysmal dilatation, elongation and tortuosity of the thoracic aorta, its branches and pulmonary arteries with stenosis at various typical locations, typically resulting in infantile demise. Variable associated features may include cutis laxa, long philtrum with thin vermillion border, hypertelorism, sagging cheeks, arachnodactyly, joint laxity and pectus deformities.|SNOMEDCT_US|N|
C5190605|A rare benign ovarian tumor characterized by a benign pelvic mass associated with right-sided pleural effusion, but without ascites. The pleural effusion resolves after resection of the tumor.|SNOMEDCT_US|N|
C5190606|A very rare developmental defect with connective tissue involvement disorder that has characteristics of tall stature, inguinal hernia, facial dysmorphism (including a long, triangular face, prominent forehead, telecanthus, downslanting palpebral fissures, bilateral ptosis, everted lower eyelids, large ears, long nose, full, everted vermilions, narrow and high arched palate, dental crowding), and radiologic evidence of advanced bone age. Additional manifestations include hyperextensible joints, long digits, mild muscle weakness, myopia, and foot deformities (such as hallux valgus, talipes equinovarus).|SNOMEDCT_US|N|
C5190607|A rare genetic primary bone dysplasia disorder with characteristics of increased bone fragility manifesting with multiple childhood-onset vertebral and peripheral fractures that are associated with increased bone mass density on radiometric examination. Patients typically present normal or mild short stature and dentinogenesis, hearing and sclerae are commonly normal.|SNOMEDCT_US|N|
C5190608|A rare primary bone dysplasia with characteristics of intrauterine growth retardation, pre and postnatal disproportionate short stature with short, rhizomelic limbs, facial dysmorphism, a short neck and small thorax. Hypotonia, cardiomegaly and global developmental delay have also been associated. Several radiographic findings have been reported, including ribs with cupped ends, platyspondyly, square iliac bones, horizontal and trident acetabula, hypoplastic ischia, and delayed epiphyseal ossification. There is evidence this disease is caused by homozygous mutation in the MAGMAS (PAM16) gene on chromosome 16p13.|SNOMEDCT_US|N|
C5190610|A rare genetic primary bone dysplasia with decreased bone density disorder with characteristics of childhood-onset osteoporosis associated with recurrent, multiple, osteoporotic, long bone fractures and/or vertebral compression fractures, significant height loss in adulthood, low bone mineral density scores and otherwise no other abnormalities. Heterozygote females may be unaffected or have a milder phenotype. There is evidence the disease can be caused by mutation in the PLS3 gene on chromosome Xq23.|SNOMEDCT_US|N|
C5190611|Calvarial hyperostosis is a benign X-linked disorder that affects only the skull. Symptoms are prominent frontoparietal bones, flat nasal root, short upturned nose, high forehead with ridging of the metopic and sagittal sutures, and lateral frontal prominences. Radiographs of the skull show increased bone thickness at the sagittal suture line and prominent lateral frontal horns. Increased intracranial pressure and cranial nerve entrapment do not occur (summary by Borra et al., 2014).|OMIM|N|
C5190628|A rare primary bone dysplasia disorder characterised by short stature with severe shortening of limbs, genu vara deformity and enlarged joints with movement limitation particularly affecting the hip joints. Radiological findings show coxa vara, generalised metaphyseal irregularities of the tubular bones (including cupping, fraying and splaying), which are more severe in the femur and forearm bones than the metacarpals and phalanges and vertebral abnormalities including ovoid vertebral bodies with anterior rectangular protrusions and severe platyspondyly.|SNOMEDCT_US|N|
C5190629|A rare primary bone dysplasia disorder with characteristics of normal birth length with early postnatal growth deficiency resulting in severe disproportionate short stature (with short trunk and limbs), severe genu varum, flexion contractures in the hips and lumbar hyperlordosis. Radiological findings reveal platyspondyly with central indentation of vertebral endplates, progressive and severe epimetaphyseal abnormalities that primarily affect the lower limbs and include very small, irregular proximal femoral and knee epiphyses, severe coxa vara, delayed ossification of proximal femoral epiphyses and irregular distal femoral and proximal tibial metaphyses.|SNOMEDCT_US|N|
C5190630|A rare inherited cancer-predisposing syndrome with characteristics of early development of cutaneous telangiectasia, mild dental and nail anomalies, patchy alopecia over the affected skin areas and increased lifetime risk for oropharyngeal cancer. Other types of cancer have also been reported. There is evidence the disease is caused by heterozygous mutation in the ATR gene on chromosome 3q23.|SNOMEDCT_US|N|
C5190631|A rare genetic peripheral neuropathy disorder due to gain-of-function mutations in voltage-gated sodium channels present in the small peripheral nerve fibres characterised by neuropathic pain of varying intensity (often beginning in the distal extremities and with a burning quality) associated with autonomic dysfunction (for example orthostatic dizziness, palpitations, dry eyes and mouth), abnormal quantitative sensory testing and reduction in intraepidermal nerve fibre density. Large fibre functions (such as normal strength, tendon reflexes and vibration sense) and nerve conduction studies are typically normal.|SNOMEDCT_US|N|
C5190632|A rare genetic neurologic disease with characteristics of congenital microcephaly, severe early-onset epileptic encephalopathy (manifesting as intractable, myoclonic and/or tonic-clonic seizures), permanent neonatal, insulin-dependent diabetes mellitus and severe global developmental delay. Muscular hypotonia, skeletal abnormalities, feeding difficulties and dysmorphic facial features (including narrow forehead, anteverted nares, small mouth with deep philtrum, tented upper lip vermilion) are frequently associated. Brain MRI reveals cerebral atrophy with cortical gyral simplification and aplasia/hypoplasia of the corpus callosum. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the IER3IP1 gene on chromosome 18q21.|SNOMEDCT_US|N|
C5190633|A rare genetic inborn error of branched-chain amino acid metabolism disorder, with a highly variable clinical and biochemical phenotype. Typical characteristics are mild to severe global developmental delay, elevated methylmalonic acid and occasionally lactic acid plasma levels and chronic methylmalonic aciduria, which may be accompanied by elevation of additional organic or amino acids in urine (for example beta-alanine, methionine, 3-hydroxypropionic, 3-aminoisobutyric and/or 3-hydroxyisobutyric acid). Microcephaly, mild craniofacial dysmorphism, axial hypotonia, liver failure and central nervous system abnormalities on MRI have also been reported. Caused by homozygous or compound heterozygous mutation in the ALDH6A1 gene on chromosome 14q24.|SNOMEDCT_US|N|
C5190686|A rare syndromic intellectual disability characterized by developmental delay and intellectual disability, learning and behavioral problems, short stature, thin and sparse hair, mild dysmorphic features, tapering fingers and later onset of scoliosis, obesity and cardiovascular problems (cardiomegaly and cardiomyopathy). Females have normal intelligence.|SNOMEDCT_US|N|
C5190687|A rare isolated nail anomaly with characteristics of claw-shaped thick hyperplastic hard and hyperpigmented nails, subungual hyperkeratosis, onycholysis and slow nail growth. Variable degree of disease severity has been reported. There is evidence the disease can be caused by homozygous mutation in the FZD6 gene on chromosome 8q22.3-q23.1.|SNOMEDCT_US|N|
C5190689|A rare genetic hemoglobinopathy disorder due to a defect in the gama subunit of the fetal hemoglobin and characterized by neonatal cyanosis, low hemoglobin oxygen saturation levels without arterial hypoxemia, moderate anemia and reticulocytosis, not associated with heart or lung disease. Symptoms progressively subside within the first months of life. Can be caused by heterozygous mutation in the HBG2 gene on chromosome 11p15.5.|SNOMEDCT_US|N|
C5190690|A rare genetic demyelinating hereditary motor and sensory neuropathy disorder with characteristics of slowly progressive mild to moderate distal muscle weakness and atrophy of the upper and lower limbs and variable distal sensory impairment, associated with variable hyperextensible skin and age-related macular degeneration. Hypermobility of distal joints, high palate, and minor skeletal abnormalities (for example pectus excavatus, dolichocephaly) may also be associated. There is evidence the disease is caused by heterozygous mutation in the gene encoding fibulin-5 (FBLN5) on chromosome 14q32.|SNOMEDCT_US|N|
C5190691|Fatal infantile hypertonic myofibrillar myopathy is a severe autosomal recessive muscular dystrophy with onset in the first weeks of life after a normal neonatal period. Affected infants show rapidly progressive muscular rigidity of the trunk and limbs associated with increasing respiratory difficulty resulting in death before age 3 years (summary by Del Bigio et al., 2011).|OMIM|N|
C5190692|A rare genetic disorder of thiamine metabolism and transport characterized by infantile spasms progressing to symptomatic generalized or partial seizures, severe global developmental delay, progressive brain atrophy and bilateral thalamic and basal ganglia lesions.|SNOMEDCT_US|N|
C5190693|A rare genetic neurological disease with characteristics of non-progressive, variable spastic quadriparesis in multiple members of a family, in the absence of additional factors complicating pregnancy or birth (for example perinatal asphyxia, congenital infection). Additional clinical features include congenital hypotonia, intellectual disability, and developmental delay. Dysphagia, dysarthria, exotropia, nystagmus, seizures and brain atrophy with ventriculomegaly may be also present.|SNOMEDCT_US|N|
C5190706|A rare genetic constitutional coagulation factor defect disorder characterized by a bleeding tendency of variable severity due to methionine 358 to arginine replacement (Pittsburgh mutation) in the alpha-1-antitrypsin protein. Patients present with spontaneous hematomas, hematomas following minor trauma or surgery and in female patients ovarian hematomas after ovulation.|SNOMEDCT_US|N|
C5190708|A rare genetic primary bone dysplasia disorder with characteristics of short stature, hyperlordosis, protuberant abdomen, mild bilateral genu varum, bowed and shortened forearms with limited elbow extension and discrete facial dysmorphism (prominent forehead, hypertelorism, flat nasal bridge). Radiographically moderate platyspondyly, including posterior wedging with anterior bullet-shaped vertebral bodies, with minimal metaphyseal abnormalities are observed.|SNOMEDCT_US|N|
C5190709|A rare genetic congenital limb malformation syndrome with characteristics of mild to severe short stature, brachydactyly and retinal degeneration (usually retinitis pigmentosa) associated with variable intellectual disability, developmental delay and craniofacial anomalies. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the CWC27 gene on chromosome 5q12.|SNOMEDCT_US|N|
C5190710|A rare secondary haemophagocytic lymphohistiocytosis characterised by occurring as either initial presentation of a malignant disease or at any stage during chemotherapy. The common associated malignancies are leukaemias, B-cell, T-cell or NK-cell lymphomas, and Hodgkin lymphoma. Typical clinical manifestation includes fever, hepatosplenomegaly and cytopenias, combined with specific laboratory findings.|SNOMEDCT_US|N|
C5190713|An Epstein-Barr positive lymphoproliferation fulfilling the criteria for classic Hodgkin lymphoma and arising as a result of post-transplant immunosuppression therapy. It is most often seen in renal transplant patients.|NCI|N|
C5190730|Jaundice that appears during the neonatal period due to high levels of unconjugated bilirubin that are a result of maternal-fetal ABO incompatibility.|MONDO|N|
C5190736|A rare genetic coagulation disorder with characteristics of mild to moderate bleeding tendency due to impaired platelet activation and aggregation in response to collagen, or impaired platelet-vessel wall interaction, resulting from a collagen receptor defect. Patients manifest with ecchymoses, epistaxis, menorrhagia, and/or post-traumatic and post-surgery bleeding complications. Laboratory analysis reveals prolonged bleeding time and occasionally mild thrombocytopenia.|SNOMEDCT_US|N|
C5190737|A rare multiple congenital defects/dysmorphic syndrome with characteristics of variable degrees of bony syngnathia associated with variable additional abnormalities including growth retardation, intellectual disability, microcephaly, iris coloboma, nystagmus, deafness and vertebral segmentation defects. Also associated with genital, limb and additional facial malformations.|SNOMEDCT_US|N|
C5190738|A rare syndromic developmental defect during embryogenesis with characteristics of urinary tract and kidney anomalies such as renal pelvicaliceal attenuation with multiple tiny caliceal diverticula, associated with sensorineural hearing loss. There have been no further descriptions in the literature since 1981.|SNOMEDCT_US|N|
C5190740|A rare genetic syndromic intellectual disability disorder with characteristics of congenital external nuclear ophthalmoplegia, lingua scrotalis, progressive chorioretinal sclerosis and intellectual disability. Bilateral ptosis, bilateral facial weakness, Parinaud syndrome, convergence paresis and myopia may be associated. There have been no further descriptions in the literature since 1975.|SNOMEDCT_US|N|
C5190778|An extremely rare multiple congenital anomalies/dysmorphic syndrome with characteristics of craniofacial dysmorphism including microbrachycephaly, sloping forehead, micro/anophthalmia, large ears, prominent nasal root, mild micrognathia and cleft palate. The syndrome is associated with cerebral palsy with choreoathetoid movements, intellectual disability, dextrocardia and longitudinal folding of plantae pedis. There have been no further descriptions in the literature since 1992.|SNOMEDCT_US|N|
C5190779|An extremely rare uterine cancer typically characterized by a well-demarcated solid frequently pedunculated tumor originating from neuroendocrine cells scattered within the endometrium, often associated with ectopic hormone production. Patients usually present with vaginal bleeding or discharge and a pelvic mass with a polypoid tumor sometimes protruding through the cervical canal. Symptoms related to ectopic hormone production (flushing, sweating, diarrhea, bronchospasm) may also develop.|SNOMEDCT_US|N|
C5190780|A rare genetic primary immunodeficiency disorder with characteristics of increased susceptibility to Neisseria bacterial infections resulting from complement factor D deficiency. Typical manifestations are recurrent respiratory infections, recurrent meningitis and/or septicaemia. Patients typically present fever, purpuric rash, arthralgia, myalgia and undetectable complement factor D plasma concentrations. Caused by homozygous mutation in the CFD gene on chromosome 19p13.|SNOMEDCT_US|N|
C5190781|A rare acquired pituitary hormone deficiency characterised by the presence of rare benign tumour in the sellar region. Clinical presentation is either acute or insidious and is variable according to the cyst location, size and potential rupture. Most commonly patients present with headache, visual disturbances and pituitary dysfunction.|SNOMEDCT_US|N|
C5190782|A rare acquired pituitary hormone deficiency characterised by combination of headache, visual field defects that correlate with cyst size and pituitary dysfunction. Most frequent hormonal manifestations are hypogonadism with amenorrhoea/impotence or low libido and galactorrhoea.|SNOMEDCT_US|N|
C5190783|A rare acquired peripheral neuropathy disease with characteristics of progressive oropharyngeal (facial palsy, dysarthria) and cervicobrachial weakness, associated with upper limb weakness and hypo/areflexia in the absence of ophthalmoplegia, ataxia, altered consciousness, and prominent lower limb weakness. The presence of monospecific IgG anti-GT1a antibodies is associated.|SNOMEDCT_US|N|
C5190784|A rare congenital anomaly of the inferior vena cava with characteristics of the postnatal presence of a eustachian valve remnant that may be asymptomatic and considered a normal variant or prominent and clinically significant. Clinical presentation is variable and includes obstruction of the inferior vena cava, cyanosis, thrombosis, pulmonary embolism, and infective endocarditis and when combined with persistent foramen ovale it may generate permanent right-to-left shunt.|SNOMEDCT_US|N|
C5190785|A rare acquired localised lipodystrophy disorder characterised by the eruption of tender occasionally painful, erythematous nodules and plaques, which enlarge radially and resolve into lipoatrophic lesions, often located in the upper and lower limbs. Histologically lesions are characterised by lipophagic lobular panniculitis and absence of vasculitis.|SNOMEDCT_US|N|
C5190786|A rare acquired pituitary hormone deficiency a type of primary hypophysitis with characteristics of inflammation of the entire pituitary gland. Common clinical presentation is diabetes insipidus with polyuria and polydipsia and partial or panhypopituitarism. Other symptoms may include headaches, nausea/vomiting, visual disturbances and fatigue.|SNOMEDCT_US|N|
C5190799|A rare genetic neurological disorder characterised by early-onset progressive ataxia associated with myoclonic seizures, generalised tonic-clonic seizures (which are often sleep-related) and normal to mild intellectual disability. Dysarthria, upward gaze palsy, sensory neuropathy, developmental delay and autistic disorder have also been associated.|SNOMEDCT_US|N|
C5190800|A rare urogenital neoplasm with characteristics of a gland-forming epithelial neoplasm arising from paratesticular structures, typically manifesting with a palpable scrotal mass, with or without hydrocele, and/or testicular pain.|SNOMEDCT_US|N|
C5190802|A rare genetic dentin dysplasia disease with characteristics of extreme microdontia, oligodontia and abnormal tooth shape (including globular teeth, incisal notches and double tooth formation). Short roots with a variable pulp phenotype (including taurodontia and flame-shaped pulp) enamel hypoplasia and anterior open bite may also be associated. Caused by homozygous mutation in the SMOC2 gene on chromosome 6q27.|SNOMEDCT_US|N|
C5190803|A rare hereditary cerebellar ataxia disorder with characteristics of late-onset spinocerebellar ataxia, manifesting with slowly progressive gait disturbances, dysarthria, limb and truncal ataxia and smooth-pursuit eye movement disturbance, associated with a history of psychomotor delay from childhood. Mild atrophy of the cerebellar vermis and hemispheres is observed on brain imaging. There is evidence the disease is caused by homozygous mutation in the SYT14 gene on chromosome 1q32.|SNOMEDCT_US|N|
C5190804|A rare genetic syndromic intellectual disability characterised by developmental delay, hypotonia, speech delay, mild to moderate intellectual disability, abnormal behaviour (autistic, aggressive, hyperactive) and dysmorphic facial features, including synophrys or thick eyebrows, deep set eyes, bulbous nasal tip and full cheeks. Congenital heart and brain anomalies, visual and hearing impairment are also common.|SNOMEDCT_US|N|
C5190805|Progressive myoclonic epilepsy-6 (EPM6) is an autosomal recessive neurologic disorder characterized by onset of ataxia in the first years of life, followed by action myoclonus and seizures later in childhood, and loss of independent ambulation in the second decade. Cognition is not usually affected, although mild memory difficulties may occur in the third decade (summary by Corbett et al., 2011).
For a discussion of genetic heterogeneity of progressive myoclonic epilepsy, see EPM1A (254800).|OMIM|N|
C5190807|A rare syndromic hereditary optic neuropathy disorder with characteristics of early-onset severe progressive visual impairment, optic disc pallor and central scotoma, variably associated with dyschromatopsia, auditory neuropathy (for example mild progressive sensorineural hearing loss), sensorimotor axonal neuropathy and occasionally moderate hypertrophic cardiomyopathy. There is evidence the disease is caused by homozygous mutation in the TMEM126A gene on chromosome 11q1.|SNOMEDCT_US|N|
C5190809|A rare genetic neurological disease with the association of macrocephaly, dysmorphic facial features and psychomotor delay leading to intellectual disability and autism spectrum disorder. Facial dysmorphism may include frontal bossing, hypertelorism, midface hypoplasia, depressed nasal bridge, short nose and long philtrum.|SNOMEDCT_US|N|
C5190810|A rare genetic developmental defect during embryogenesis disorder with characteristics of partial (unilateral testis, persistence of Mullerian duct structures) or complete (streak gonads only) gonadal dysgenesis, usually manifesting with primary amenorrhea in individuals with female phenotype but 46,XY karyotype, and sensorimotor dysmyelinating mini fascicular polyneuropathy, which presents with numbness, weakness, exercise-induced muscle cramps, sensory disturbances and reduced/absent deep tendon reflexes. Germ cell tumors (seminoma, dysgerminoma, gonadoblastoma) may develop from the gonadal tissue. May be caused by mutation in the desert hedgehog gene (DHH).|SNOMEDCT_US|N|
C5190811|A rare genetic developmental defect during embryogenesis disorder with characteristics of severe early-onset salt-wasting adrenal insufficiency and ambiguous/female external genitalia (irrespective of chromosomal sex) due to mutations in the CYP11A1 gene. Milder cases may present delayed onset of adrenal gland dysfunction and genitalia phenotype may range from normal male to female in individuals with 46,XY karyotype. Imaging studies reveal hypoplastic/absent adrenal glands and biochemical findings include low serum cortisol, mineralocorticoids, androgens and sodium with elevated potassium levels. Caused by heterozygous, compound heterozygous or homozygous mutation in the CYP11A1 gene on chromosome 15q23-q24.|SNOMEDCT_US|N|
C5190813|A rare non-syndromic uterovaginal malformation with characteristics of variable degrees of cervical aplasia, ranging from complete agenesis to the presence of a cervix with a cervical canal that contains a blind end. Patients typically present primary amenorrhoea, cyclical abdominal or pelvic pain, dyspareunia and/or reproductive problems.|SNOMEDCT_US|N|
C5190814|A rare genetic endocrine disease with characteristics of idiopathic short stature due to diminished GHR function (decreased ligand binding or reduced availability of receptor), thus resulting in partial insensitivity to growth hormone. There is evidence the disease is caused by heterozygous mutation in the growth hormone receptor gene (GHR) on chromosome 5p13-p12.|SNOMEDCT_US|N|
C5190822|A rare genetic isolated focal palmoplantar keratoderma disease with characteristics of focal thickening of the skin of the soles and often of the palms, associated with minimal or no nail involvement. Patients frequently present non-epidermolytic painful plantar blistering and occasionally subtle oral leukokeratosis or plantar hyperhidrosis. Caused by heterozygous mutation in the KRT6C gene on chromosome 12q13.|SNOMEDCT_US|N|
C5190823|A rare genetic dysostosis syndrome with combined reduction defects of upper and lower limbs and characteristics of bilateral radial aplasia, absent thumbs and bilateral tibial hypo/aplasia. Additional bone anomalies (including partial toe hypo/aplasia, short fibula and clubhand) may be associated. There have been no further descriptions in the literature since 1996.|SNOMEDCT_US|N|
C5190824|A rare neoplastic disease characterized by the presence of a benign or malignant, pelvic or abdominal tumor (other than ovarian fibroma or fibroma-like and localized outside of the ovaries, fallopian tubes, and broad ligaments) associated with hydrothorax and ascites that resolve after tumor resection. Patients usually present with dyspnea, pelvic mass with or without a tender, distended abdomen and/or weight loss.|SNOMEDCT_US|N|
C5190825|Progressive myoclonic epilepsy-8 (EPM8) is a rare autosomal recessive form of progressive myoclonic epilepsy with phenotypic variability including ataxia and other movement disorders in addition to myoclonus (summary by Godeiro et al., 2018).
For a discussion of genetic heterogeneity of progressive myoclonic epilepsy, see EPM1A (254800).|OMIM|N|
C5190827|A rare slowly progressive autosomal recessive distal myopathy with characteristics of early onset of predominantly distal muscle weakness and atrophy affecting lower leg extensor muscles, finger extensors and neck flexors. Muscle histology does not always show nemaline rods. The disease manifests initially in early childhood or young adulthood by foot drop but the first symptoms can be seen as early as one year of age. Caused by biallelic mutations (with at least one of them being missense mutation) in the gene NEB (2q22) which encodes the protein nebulin. The latter is expressed in the thin filaments of striated muscle and is required for the proper assembly of the thin filaments, for the maintenance of their lengths and for their contractile function. Transmission is autosomal recessive.|SNOMEDCT_US|N|
C5190828|A rare chromosomal anomaly with characteristics of a combination of paternal uniparental and biparental cell lineages, leading to variable clinical presentation that predominantly includes features of Beckwith-Wiedemann syndrome and increased risk of various neoplasms. In addition, features of Angelman syndrome and transient neonatal diabetes might be expected.|SNOMEDCT_US|N|
C5190832|A rare neoplastic disease with the presence of a neoplasm located in the parotid, sublingual, submandibular and/or minor salivary glands. The disease presents with a wide spectrum of clinical features depending on the location, size and type of salivary gland involved, ranging from clinically asymptomatic, slow-growing, painless mass(es), that may or may not be fixed to underlying skin or muscles, to rapidly growing mass(es) associated with pain, facial weakness/nerve palsy, dysphagia, palatal/parapharyngeal fullness, nasal obstruction/bleeding, voice hoarseness/change, trismus, palate bone erosion, telangiectasia, mucosal/skin ulceration and/or cervical adenopathy.|SNOMEDCT_US|N|
C5190833|A rare genetic neurometabolic disease with characteristics of encephalomyopathy (including developmental delay, nystagmus, progressive ataxia, dystonia, amyotrophy, visual loss, sensorineural deafness, seizures) and bilateral symmetrical lesions in the basal ganglia or brainstem on imaging, associated with nephrotic syndrome.|SNOMEDCT_US|N|
C5190834|A rare acquired pituitary hormone deficiency, a type of primary hypophysitis characterized by an inflammation of the posterior pituitary and the stalk. The major clinical manifestation is diabetes insipidus with polyuria and polydipsia. Less frequent symptoms are headaches, adrenal insufficiency, hyperprolactinemia and hypogonadism.|SNOMEDCT_US|N|
C5190835|ITM2B-related cerebral amyloid angiopathy-1, also known as familial British dementia (FBD), is an autosomal dominant neurodegenerative disorder characterized by progressive dementia, spasticity, and cerebellar ataxia, with onset at around the fifth decade of life. Cerebral amyloid angiopathy, nonneuritic and perivascular plaques, and neurofibrillary tangles are the predominant pathological lesions (summary by Vidal et al., 1999).|OMIM|N|
C5190839|An extremely rare primary bone dysplasia with increased bone density with characteristics of lethal neonatal dwarfism with hydrops, narrow chest and short limbs with extensive cortical thickening of all long bones, ribs, clavicles and scapulae and coronal clefts in vertebral bodies.|SNOMEDCT_US|N|
C5190845|Movement of the entire pelvis in a relatively horizontal plane about a vertical (longitudinal) axis.|SNOMEDCT_US|N|
C5190846|A rare genetic congenital muscular dystrophy due to dystroglycanopathy disorder. The disease has characteristics of a wide phenotypic spectrum including hypotonia and muscular weakness, which is present at birth or early infancy and delayed or arrested motor development associated with mild to severe intellectual disability and variable brain abnormalities on neuroimaging studies. Feeding difficulties, joint and spinal deformities, respiratory insufficiency and ocular anomalies (for example strabismus, retinal dystrophy, oculomotor apraxia) may be associated. Decreased or absent alpha-dystroglycan on immunohistochemical muscle staining and elevated serum creatine kinase are observed.|SNOMEDCT_US|N|
C5190847|A rare genetic congenital muscular dystrophy due to dystroglycanopathy disorder with characteristics of a wide phenotypic spectrum which includes hypotonia and muscular weakness present at birth or early infancy, delayed or arrested motor development and normal intellectual abilities with normal (or only mild abnormalities) neuroimaging studies. Feeding difficulties, joint and spinal deformities and respiratory insufficiency may be associated. Decreased alpha-dystroglycan on immunohistochemical muscle staining and elevated serum creatine kinase are observed.|SNOMEDCT_US|N|
C5190848|A rare congenital muscular dystrophy due to dystroglycanopathy with characteristics of proximal muscular weakness with a tendency for muscle hypertrophy and pseudohypertrophy, variable cognitive impairment, microcephaly, cerebellar hypoplasia with or without cysts and other structural brain anomalies.|SNOMEDCT_US|N|
C5190849|A rare congenital hypothyroidism disorder with characteristics of transient primary fetal or neonatal hypothyroidism resulting from transplacental transfer of antithyroid drugs due to maternal intake. Patients may present fetal or neonatal goiter, hoarse cry, reduced tendon reflexes, feeding difficulty, constipation, prolonged jaundice and/or respiratory distress. Elevated levels of T4 and thyroid stimulating hormone usually normalize without treatment within 3 weeks of birth.|SNOMEDCT_US|N|
C5190850|A rare mitochondrial oxidative phosphorylation disorder with characteristics of variable combination of psychomotor delay, hypotonia, muscle weakness, seizures, microcephaly, cardiomyopathy and mild dysmorphic facial features. Variable types of structural brain anomalies have also been reported. Biochemical studies typically show decreased activity of mitochondrial complexes (mainly complex I). Caused by homozygous or compound heterozygous mutation in the VARS2 gene on chromosome 6p21.|SNOMEDCT_US|N|
C5190851|A rare acquired peripheral neuropathy with characteristics of symptoms arising from combined overactivity in cranial nerves, without any explanatory structural lesion. The symptoms may be unilateral or bilateral, may occur synchronously or metachronously and include trigeminal neuralgia, hemifacial spasm and glossopharyngeal neuralgia.|SNOMEDCT_US|N|
C5190852|A rare syndromic craniosynostosis with characteristics of prenatal presentation with cloverleaf skull, micromelia and asphyxiating thoracic dysplasia. Radiologic features include short ribs, horizontal roof of the acetabulum with a rounded median prominence and lateral spurs, deformed long bones with broad metaphyses and absent ossification of the terminal phalanges. There have been no further descriptions in the literature since 1987.|SNOMEDCT_US|N|
C5190853|A rare genetic primary interstitial lung disease with a highly variable clinical presentation, ranging from neonatal respiratory distress syndrome to mild to severe interstitial lung disease (typical symptoms include cough, tachypnoea, hypoxia, clubbing, crackles, failure to thrive). Lung biopsy reveals diffuse alveolar damage, interstitial thickening with inflammatory infiltrates, fibroblast proliferation, collagen deposition and multiple foci of fibrosis, alveolar type II cell hyperplasia, abundant foamy alveolar macrophages and granular lipoproteic material in the alveolar lumen. Imaging shows cystic spaces and ground-glass opacities that are typically homogenously diffuse. There is evidence that the disease is caused by heterozygous mutation in the gene encoding surfactant protein C (SFTPC) on chromosome 8p21.|SNOMEDCT_US|N|
C5190854|A rare gastroesophageal tumor characterized by a typically submucosal tumor occurring usually in the middle to distal esophagus and histologically characterized as either mucoepidermoid (intimate mixture of mucus, intermediate, and epidermoid cells) or as adenoid cystic carcinoma (biphasic admixture of duct&#8208;lining epithelial and myoepithelial cells with tubular, cribriform, solid, or basaloid growth patterns). Patients may be asymptomatic or may present with progressive dysphagia, heartburn, retrosternal pain and/or weight loss.|ORDO|N|
C5190857|A rare genetic isolated constitutional thrombocytopenia disease with characteristics of impaired platelet aggregation resulting from a defect in thromboxane synthesis or signaling, manifesting with mild to moderate mucocutaneous, gastrointestinal or surgical bleeding (for example easy bruising, prolonged epistaxis, excessive bleeding after a tooth extraction). Conferred by heterozygous mutation in the gene encoding the thromboxane A2 receptor (TBXA2R) on chromosome 19p13.|SNOMEDCT_US|N|
C5190858|A rare neoplastic disease characterised by the presence of a tumour located in the parotid, sublingual, submandibular and/or minor salivary glands, which presents with a wide spectrum of clinical features depending on the location, size and type of salivary gland involved, usually manifesting as a slow-growing, painless, commonly solitary mass, rarely associated with facial nerve palsy or nasal/airway obstruction.|SNOMEDCT_US|N|
C5190860|A rare genetic peripheral neuropathy with characteristics of early hypotonia evolving to spastic paraparesis, areflexia, decreased pain and temperature sensitivity, autonomic neuropathy, gastroesophageal reflux disease, recurrent pneumonia and respiratory problems. Patients also have intellectual disability and dysmorphic features, including mild brachycephalic microcephaly, short broad neck, low anterior hairline and coarse face. Caused by homozygous mutation in the TECPR2 gene on chromosome 14q32.|SNOMEDCT_US|N|
C5190862|A rare genetic primary immunodeficiency disorder with characteristics of recurrent bacterial infections (including septic thrombophlebitis and subacute bacterial endocarditis) and neutropenia without lymphopenia or warts, resulting from recessively inherited mutations in CXCR2.|SNOMEDCT_US|N|
C5190864|A rare genetic hematologic disease characterized by increased levels of serum hemoglobin, hematocrit and erythrocyte mass, associated with elevated or inappropriately normal erythropoietin serum levels, occurring in various members of a family and with autosomal dominant inheritance.|SNOMEDCT_US|N|
C5190865|A rare hereditary ataxia with characteristics of simultaneous onset and development of cerebellar ataxia and chorioretinal degeneration (including macular degeneration, advancing choroidal sclerosis, punctata albescens, and retinitis pigmentosa). There have been no further descriptions in the literature since 1963.|SNOMEDCT_US|N|
C5190867|A rare primary immunodeficiency disorder characterised by the association of alopecia areata totalis and antibody deficiency (congenital agammaglobulinaemia or incomplete antibody deficiency syndrome) manifesting with recurrent infections. There have been no further descriptions in the literature since 1976.|SNOMEDCT_US|N|
C5190880|A rare acquired pituitary hormone deficiency a type of primary hypophysitis with characteristics of inflammation of anterior pituitary. Clinical presentation is variable and includes headaches, visual disturbances, and symptoms of adrenal insufficiency, hyperprolactinaemia, hypothyroidism and hypogonadism. It most commonly affects young women during pregnancy or postpartum period.|SNOMEDCT_US|N|
C5190881|A acquired demyelinating neuropathy disease with characteristics of acute symmetric monophasic sensory neuropathy without motor involvement, typically manifesting with numbness in the distal lower limbs which progressively extends to all the limb, tingling sensation in the distal lower limbs, generalised areflexia and unsteady gait as well as clumsiness of the upper limbs, pseudoathetosis and loss of vibration sense.|SNOMEDCT_US|N|
C5190883|A rare genetic non-syndromic developmental defect of the eye disorder with characteristics of congenital megalocornea associated with spherophakia and/or ectopia lentis leading to pupillary block and secondary glaucoma. Additional features may include flat irides, iridodonesis, axial myopia, very deep anterior chambers, miotic oval pupils without well-defined borders, ocular pain and irritability manifesting as conjunctival injection, corneal edema and central scarring, as well as a high arched palate. Can be caused by homozygous mutation in the LTBP2 gene on chromosome 14q24.|SNOMEDCT_US|N|
C5190885|A rare genetic non-severe combined immunodeficiency disorder with characteristics of normal or elevated IgM serum levels with low or absent IgG, IgA and IgE serum concentrations, which manifests with recurrent or severe bacterial infections and increased susceptibility to opportunistic infections (in particular, pneumonia due to P. jiroveci, but also chronic cryptosporidial, cryptococcal, cytomegalovirus and toxoplasma infections). Haematologic disorders (neutropenia, anaemia, thrombocytopenia) are frequently associated. Immunologic findings reveal decreased numbers of CD27+ memory B cells and lack of germinal centre formation.|SNOMEDCT_US|N|
C5190886|A rare genetic primary immunodeficiency due to a defect in adaptive immunity disorder with characteristics of normal or elevated IgM serum levels with low or absent IgG, IgA and IgE serum concentrations, which manifests with recurrent bacterial sinopulmonary and gastrointestinal infections, with frequent lymphoid hyperplasia (peripheral lymphadenopathy, tonsillar hypertrophy), with no increased susceptibility to opportunistic infections. Autoimmune manifestations (including immune cytopenias, arthritis and hepatitis) are occasionally associated. Immunologic findings reveal absent immunoglobulin class switch recombination and lack of defect of immunoglobulin somatic hypermutations in the presence of normal numbers of CD27+ memory B cells.|SNOMEDCT_US|N|
C5190888|A rare genetic isolated constitutional thrombocytopenia disease with characteristics of decreased platelet counts not associated with platelet morphology or function impairment, in multiple members of a family. Manifestations are variable, typically ranging from asymptomatic to mild bleeding diathesis (e.g. easy bruising, epistaxis, petechiae). Occasionally, a more severe bleeding tendency has been associated and a mild predisposition to infection and eczema has been reported.|SNOMEDCT_US|N|
C5190890|A rare genetic hemoglobinopathy characterized by generally mild clinical phenotype, high fetal hemoglobin levels and mild microcytosis and hypochromia. In some cases, acute sickle cell disease manifestations were reported, namely acute chest syndrome and acute pain crisis.|SNOMEDCT_US|N|
C5190891|A rare genetic constitutional aplastic anemia disorder characterized by severe peripheral blood pancytopenia and bone marrow hypoplasia in multiple individuals of a family, in the absence of any somatic symptoms. Abnormal bleeding, as well as erythrocyte macrocytosis, is reported and patients usually become transfusion-dependent.|SNOMEDCT_US|N|
C5190925|Cleft hard palate in which the cleft goes through the entire length of the hard palate, ie. from the incisor foramen to the anterior border of the soft palate.|HPO|N|
C5190966|A squamous cell carcinoma not associated with human papilloma virus infection.|NCI|N|
C5190986|A rare syndromic ichthyosis characterised by a collodion membrane at birth, generalised congenital ichthyosis, microspherophakia, myopia, ectopia lentis, short stature with brachydactyly and joint stiffness and occasionally mitral valve dysplasia.|SNOMEDCT_US|N|
C5190987|A rare subtype of autosomal recessive limb-girdle muscular dystrophy disorder with characteristics of infantile to childhood-onset of slowly progressive, principally proximal shoulder and/or pelvic-girdle muscular weakness that typically presents with positive Gowers'' sign and is associated with elevated creatine kinase levels, hyporeflexia, joint and achilles tendon contractures and muscle hypertrophy usually of the thighs, calves and/or tongue. Other highly variable features include cerebellar, cardiac and ocular abnormalities.|SNOMEDCT_US|N|
C5190988|A syndromic genetic deafness with characteristics of erythrokeratoderma, hypotrichosis, nail dystrophy and sensorineural hearing loss. Erythema, recurrent skin infections and mucositis have also been associated.|SNOMEDCT_US|N|
C5190989|A rare genetic form of obesity characterized by severe early-onset obesity, hyperphagia, insulin resistance with hyperinsulinemia, reduced adult final height, delayed speech and language development and a tendency for social isolation and aggressive behavior.|SNOMEDCT_US|N|
C5190991|Combined oxidative phosphorylation deficiency-21 (COXPD11) is a severe multisystemic autosomal recessive disorder characterized by neonatal hypotonia and lactic acidosis. Affected individuals may have respiratory insufficiency, foot deformities, or seizures, and all reported patients have died in infancy. Biochemical studies show deficiencies of multiple mitochondrial respiratory enzymes (summary by Garcia-Diaz et al., 2012).
For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060).|OMIM|N|
C5190993|A rare genetic chromosomal anomaly syndrome resulting from partial duplication of the long arm of chromosome 2 with characteristics of congenital pendular nystagmus associated with bilateral cutaneous syndactyly between the third and fourth fingers.|SNOMEDCT_US|N|
C5191002|A rare acquired retinal disorder with characteristics of unilateral acute onset rapidly progressive visual field loss. Sometimes patients have photopsia and complain of floaters. Typical ophthalmoscopic finding is a unilateral, yellowish-white annular intraretinal line, splitting the retinal field to affected outer retina with thinning and normal retina. Gradual spontaneous visual recovery has been observed.|SNOMEDCT_US|N|
C5191004|A rare porphyria characterised by a pre-existing myeloid disorder, skin fragility and blistering on the exposed areas, and haemorrhagic bullae typically on the back of the hands. Urine, plasma and faecal porphyrins are increased.|SNOMEDCT_US|N|
C5191005|Familial partial lipodystrophy type 4 is an autosomal dominant metabolic disorder characterized by childhood or young adult onset of loss of subcutaneous adipose tissue primarily affecting the lower limbs, insulin-resistant diabetes mellitus, hypertriglyceridemia, and hypertension (summary by Gandotra et al., 2011). Other features may include hepatic steatosis, acanthosis nigricans, polycystic ovary syndrome, and renal disease (summary by Chen et al., 2018).
For a general phenotypic description and a discussion of genetic heterogeneity of familial partial lipodystrophy (FPLD), see 151660.|OMIM|N|
C5191008|A rare syndromic intellectual disability with characteristics of global developmental delay including severely delayed or absent speech, moderate to severe intellectual disability, behavioral issues, stereotypic behavior, febrile seizures and epilepsy, abnormal gait, vision defects and characteristic facial features. Intrauterine growth restriction and feeding difficulties are frequently present.|SNOMEDCT_US|N|
C5191009|A rare genetic renal tubular disease characterized by hypophosphatemia, decreased renal phosphate resorption and hypercalciuria leading to calcium nephrolithiasis and/or nephrocalcinosis and osteoporosis, in the presence of normal/increased serum calcitriol levels.|SNOMEDCT_US|N|
C5191010|A rare genetic primary immunodeficiency disease with characteristics of increased susceptibility to recurrent usually severe infections (particularly by Neisseria meningitidis, Haemophilus influenzae and Streptococcus pneumonia), typically manifesting as otitis, sinusitis, bronchitis, pneumonia, and/or meningitis. Autoimmune disease (for example systemic lupus erythematosus, glomerulonephritis) and atypical hemolytic uremic syndrome may be associated. Laboratory serum analysis reveals, in addition to diminished or undetectable complement factor I, variably decreased complement C3, complement factor B and complement factor H. Caused by homozygous or compound heterozygous mutation in the gene encoding complement factor I on chromosome 4q25.|SNOMEDCT_US|N|
C5191039|A rare genetic congenital limb malformation syndrome with characteristics of complete cutaneous syndactyly between toes 1-2, ulnar polydactyly (ranging from nubbins to an almost complete additional finger) and earlobe malformations. Additionally, abnormalities along the medial border of the foot are observed on X-ray imaging. There have been no further descriptions in the literature since 1976.|SNOMEDCT_US|N|
C5191040|A rare developmental defect during embryogenesis syndrome with characteristics of glabellar capillary malformation, congenital communicating hydrocephalus and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979.|SNOMEDCT_US|N|
C5191041|A rare genetic X-linked syndromic intellectual disability disorder with characteristics of moderate to severe intellectual disability associated with epilepsy, short stature, autistic features and behavioral problems, such as self- injury and aggressive outbursts. Observed facial dysmorphism includes brachycephaly, prominent supraorbital ridges, and deep-set eyes. Additional variable manifestations include malposition of feet, asthenic habitus, hyporeflexia, bowel occlusions, hydronephrosis, horseshoe kidney, delayed motor development and disturbed sleep-wake cycle. Caused by mutation in the GRIA3 gene.|SNOMEDCT_US|N|
C5191042|A rare neurologic disease with characteristics of excessive startle response to unexpected auditory, tactile or visual stimuli, associated with hyperreflexia.|SNOMEDCT_US|N|
C5191049|A uniparental disomy of paternal origin that does not seem to have an adverse impact on the phenotype of an individual. There is a possibility of homozygosity for a recessive disease mutation for which the father is a carrier and specific phenotype depends on the inherited disorder.|SNOMEDCT_US|N|
C5191050|A rare genetic form of obesity with characteristics of severe early-onset obesity, hyperphagia and variable presence of cognitive impairment and behavioral disorder, including autistic spectrum behavior, impaired concentration and memory deficit. Some patients present with Prader-Willi-like features such as hypotonia, developmental delay, intellectual disability, short stature, hypopituitarism and dysmorphic facial features.|SNOMEDCT_US|N|
C5191051|A rare genetic mitochondrial DNA-related mitochondrial myopathy disorder with characteristics of slowly progressive muscular weakness (proximal greater than distal), predominantly involving the facial muscles and scapular girdle, associated with insulin-dependent diabetes mellitus. Neurological involvement and congenital myopathy may be variably observed. The phenotype is caused by mutation in the mitochondrially-encoded tRNA-glu gene (MTTE).|SNOMEDCT_US|N|
C5191052|A rare genetic primary bone dysplasia with increased bone density disorder with characteristics of bone abnormalities, including metaphyseal plaques, osteopathia striata, marked cranial sclerosis, and sclerosis of the ribs and long bones, as well as macrocephaly, cleft palate, hearing loss, developmental delay, and facial dysmorphism (hypertelorism, prominent forehead, wide nasal bridge). Hypotonia, tracheo/laryngomalacia, and astigmatic myopia are also associated.|SNOMEDCT_US|N|
C5191055|The two forms of deoxyguanosine kinase (DGUOK) deficiency are a neonatal multisystem disorder and an isolated hepatic disorder that presents later in infancy or childhood. The majority of affected individuals have the multisystem illness with hepatic disease (jaundice, cholestasis, hepatomegaly, and elevated transaminases) and neurologic manifestations (hypotonia, nystagmus, and psychomotor retardation) evident within weeks of birth. Those with isolated liver disease may also have renal involvement and some later develop mild hypotonia. Progressive hepatic disease is the most common cause of death in both forms.|GeneReviews|N|
C5191056|A uniparental disomy of maternal origin that does not seem to have an adverse impact on the phenotype of an individual. There is a possibility of homozygosity for a recessive disease mutation for which the mother is a carrier and specific phenotype depends on the inherited disorder.|SNOMEDCT_US|N|
C5191057|A rare aggressive neoplastic disease with the presence of a melanocyte neoplasm that develops in any mucosal membrane. Clinical manifestations vary depending on the site of occurrence.|SNOMEDCT_US|N|
C5191058|A rare genetic developmental defect during embryogenesis syndrome with characteristics of total or partial colonic aganglionosis associated with peripheral usually multifocal, neuroblastic neoplasm (ganglioneuroblastoma, neuroblastoma, ganglioneuroma). Congenital central hypoventilation syndrome, with variable severity of respiratory compromise, cardiovascular and ophthalmologic symptoms, consistent with autonomic nervous system dysfunction is occasionally associated.|SNOMEDCT_US|N|
C5191059|A rare congenital isolated hyperinsulinism disorder with characteristics of diazoxide unresponsive recurrent episodes of hyperinsulinemic hypoglycemia resulting from an excessive insulin secretion by the pancreatic beta-cells due to SUR1 deficiency. Hypoglycemia may lead to variable clinical manifestations, ranging from asymptomatic hypoglycemia revealed by routine blood glucose monitoring to macrosomia at birth, mild to moderate hepatomegaly and life-threatening hypoglycemic coma or status epilepticus, further leading to poor neurological outcome. Caused by homozygous, compound heterozygous, or heterozygous mutation in the ABCC8 gene on chromosome 11p15.|SNOMEDCT_US|N|
C5191060|A rare congenital isolated hyperinsulinism disorder with characteristics of diazoxide unresponsive recurrent episodes of hyperinsulinemic hypoglycemia resulting from an excessive insulin secretion by the pancreatic beta-cells due to Kir6.2 deficiency. Hypoglycemia may lead to variable clinical manifestation, ranging from asymptomatic hypoglycemia revealed by routine blood glucose monitoring to macrosomia at birth, mild to moderate hepatomegaly and life-threatening hypoglycemic coma or status epilepticus, further leading to poor neurological outcome. Caused by mutation in the gene encoding the Kir6.2 subunit of the inwardly rectifying potassium channel (KCNJ11).|SNOMEDCT_US|N|
C5191061|A rare genetic non-severe combined immunodeficiency disease with characteristics of immunodeficiency (manifested by recurrent and/or severe bacterial and viral infections), destructive noninfectious granulomas involving skin, mucosa and internal organs and various autoimmune manifestations (including cytopenia, vitiligo, psoriasis, myasthenia gravis, enteropathy). Immunophenotypically, T-cell and B-cell lymphopenia, hypogammaglobulinemia, abnormal specific antibody production and impaired T-cell function are observed.|SNOMEDCT_US|N|
C5191076|A rare hereditary haematologic disease characterised by an increase in haemoglobin, haematocrit and erythrocyte mass resulting in plethora or ruddy complexion, headache, dizziness, tinnitus and exertional dyspnoea. In some cases, thrombophlebitis and arthralgia have also been reported.|SNOMEDCT_US|N|
C5191077|A rare congenital isolated hyperinsulinism disorder with characteristics of neonatal presentation of severe refractory hypoglycaemia in the first two days of life with limited response to medical management sometimes requiring pancreatic resection. Newborns are often large for gestational age with mild to moderate hepatomegaly and diffuse form of hyperinsulinism due to SUR1 deficiency. Persistent hypoglycaemia, hyperglycaemia and type 1 diabetes mellitus may develop later in life. Life-threatening hypoglycaemic coma or status epilepticus have also been associated. There is evidence the disease is caused by homozygous, compound heterozygous, or heterozygous mutation in the ABCC8 gene on chromosome 11p15.|SNOMEDCT_US|N|
C5191078|A rare congenital isolated hyperinsulinism disorder with characteristics of neonatal presentation of severe refractory hypoglycemia in the first two days of life with limited response to medical management sometimes requiring pancreatic resection. Newborns are often large for gestational age with mild to moderate hepatomegaly and diffuse form of hyperinsulinism due to Kir6.2 deficiency. Persistent hypoglycemia, hyperglycemia and type 1 diabetes mellitus may develop later in life. Life-threatening hypoglycemic coma or status epilepticus have also been associated. Caused by mutation in the gene encoding the Kir6.2 subunit of the inwardly rectifying potassium channel (KCNJ11).|SNOMEDCT_US|N|
C5191079|A rare genetic disease with characteristics of adult-onset myofibrillar myopathy variably associated with cardiomyopathy and/or posterior pole cataracts. Patients typically present progressive proximal and distal muscle weakness and wasting of lower and upper limbs, often with velopharyngeal involvement including dysphagia, dysphonia and ventilatory insufficiency. Electromyography shows myopathic features and muscle biopsy reveals myofibrillar myopathy changes. Caused by heterozygous mutation in the alpha-B-crystallin gene (CRYAB) on chromosome 11q23.|SNOMEDCT_US|N|
C5191081|A rare congenital non-syndromic heart malformation with characteristics of more or less than one coronary ostium at the left and at the right aortic sinus of Valsalva. It may be asymptomatic or it leads to myocardial ischaemia and technical difficulties during coronary angiography.|SNOMEDCT_US|N|
C5191307|A rare genetic non-severe combined immunodeficiency disorder with characteristics of variable B- and T-cell defects (including defective B-cell differentiation and impaired T-cell proliferation to mitogens and bacterial antigens) and natural killer cell dysfunction (ranging from impaired cytotoxity to lymphopenia) due to IL21R deficiency. The disease manifests with recurrent respiratory and/or gastrointestinal tract infections and in some cases, with severe, chronic, progressive cholangitis and liver cirrhosis associated with cryptosporidial infection.|SNOMEDCT_US|N|
C5191309|A rare genetic non-syndromic cerebral malformation due to abnormal neuronal migration disease with the association of cortical dysplasia and pontocerebellar hypoplasia, manifesting with global developmental delay, mild to severe intellectual disability, axial hypotonia, strabismus, nystagmus and occasionally, optic nerve hypoplasia. Brain imaging reveals variable malformations, including frontally predominant microgyria, gyral disorganisation and simplification, dysmorphic and hypertrophic basal ganglia, cerebellar vermis dysplasia, brainstem/corpus callosum hypoplasia, and/or olfactory bulbs agenesis. Caused by heterozygous mutation in the TUBB3 gene on chromosome 16q24.|SNOMEDCT_US|N|
C5191311|A rare genetic movement disorder with characteristics of involuntary movements on one side of the body that mirror intentional movements on the opposite side of the body, which are present in various first-degree members of a family, persist beyond the first decade of life, and have no associated comorbidities.|SNOMEDCT_US|N|
C5191313|A rare life-threatening congenital non-syndromic conotruncal heart malformation with characteristics of absent or severely undeveloped pulmonary valve leaflets (with a restrictive ring of thickened tissue at the place of the pulmonary valve annulus) associated with an intact ventricular septum and a patent ductus arteriosus, manifesting with marked respiratory insufficiency. Additional features include dilated main pulmonary artery (with or without dilatation of pulmonary artery branches), to-and-fro flow at site of the dysplastic pulmonary valve and systolic pressure gradient across narrowed pulmonary valve. Tricuspid atresia and variable extra-cardiac anomalies (for example diaphragmatic hernia or cleft lip/palate) may be present.|SNOMEDCT_US|N|
C5191318|A rare genetic familial partial epilepsy disease with characteristics of simple partial seizures, complex partial seizures and/or secondarily generalized seizures, originating from the inner aspect of the temporal lobe, associated with an antecedent history of febrile seizures, occurring in various members of a family. Hippocampal abnormalities (for example hippocampal sclerosis) may also be associated. There is evidence the disease is caused by homozygous mutation in the CPA6 gene on chromosome 8q13.|SNOMEDCT_US|N|
C5191335|A rare acquired immunodeficiency disease with characteristics of adult-onset absolute neutrophil counts less than 1.5 x 10^9/L on at least 3 occasions in a 3 month period that cannot be attributable to drugs or a specific genetic, infectious, inflammatory, autoimmune or malignant cause. Recurrent apthous stomatitis and a history of mild bacterial infections are typically associated. A benign outcome with a low rate of severe infections and no secondary malignancies is observed.|SNOMEDCT_US|N|
C5191336|A rare acquired immunodeficiency disorder characterised by the appearance of susceptibility to disseminated opportunistic infections (in particular, disseminated nontuberculous mycobacterial infection, salmonellosis, penicillosis, and varicella zoster virus infection) in previously healthy (HIV-negative) adults, associated with the presence of acquired autoantibodies to interferon gamma. Typical clinical manifestation includes lymphadenopathy (cervical or generalised), fever, weight loss and/or reactive skin lesions.|SNOMEDCT_US|N|
C5191414|A rare genetic congenital muscular alpha-dystroglycanopathy with brain and eye anomalies. The disorder has characteristics of a severe muscle-eye-brain disease-like phenotype associated with intellectual disability, muscular dystrophy, macrocephaly and extended bilateral multicystic white matter disease. There is evidence the disease is caused by homozygous mutation in the DAG1 gene on chromosome 3p21.|SNOMEDCT_US|N|
C5191419|A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of severe global developmental delay, hypotonia, and early-onset seizures, associated with multiple congenital anomalies, such as cardiac (for example patent foramen ovale, atrial septal defect, patent ductus arteriosus), genitourinary (such as hydrocele, renal collecting system dilatation, hydroureter, hydronephrosis, hypertrophic trabecular urinary bladder) and gastrointestinal (including anal stenosis, imperforate anus, ano-vestibular fistula) abnormalities, as well as facial dysmorphism which includes coarse facies, a prominent occiput, bitemporal narrowing, epicanthal folds, hypertelorism, nystagmus/strabismus/wandering eyes, low-set, large ears with auricle abnormalities, depressed nasal bridge, upturned nose, long philtrum, large open mouth with thin lips, high-arched palate, and micro/retrognathia. Caused by homozygous mutation in the PIGN gene on chromosome 18q21.|SNOMEDCT_US|N|
C5191422|A rare genetic lissencephaly with cerebellar hypoplasia subtype with characteristics of the presence of lissencephaly with an abrupt transition, near the boundary between the frontal and parietal cortex, from frontal agyria to posterior gyral simplification, associated with cerebellar hypoplasia which predominantly affects the midline vermis.|SNOMEDCT_US|N|
C5191423|A rare genetic lissencephaly with cerebellar hypoplasia subtype with characteristics of classical lissencephaly with thickened cortical grey matter (with either no discernable gradient, a predominantly posterior gradient, or a predominantly anterior gradient) associated with variable predominantly midline cerebellar hypoplasia.|SNOMEDCT_US|N|
C5191641|A rare neurological disease with characteristics of a generally deep poorly localized persistent facial pain that does not present characteristics of a cranial neuralgia and which cannot be attributed to another disorder.|SNOMEDCT_US|N|
C5191642|A rare skin disease belonging to the spectrum of autoinflammatory syndromes with the triad of pyoderma gangrenosum (PG), suppurative hidradenitis (SH) and acne.|SNOMEDCT_US|N|
C5191643|A rare X-linked syndromic intellectual disability disease with characteristics of neonatal hypertonia which evolves to hypotonia and an exaggerated startle response (to sudden visual, auditory or tactile stimuli), followed by the development of early-onset, frequently refractory, tonic or myoclonic seizures. Progressive epileptic encephalopathy, intellectual disability, and psychomotor development arrest, with subsequent decline, may be additionally associated. There is the disease is caused by mutation in the ARHGEF9 gene on chromosome Xq22.1.|SNOMEDCT_US|N|
C5191644|A rare genetic intestinal disease with characteristics of early-onset chronic diarrhea and intestinal inflammation due to overactivity of guanylate cyclase 2C. Additional manifestations include meteorism, dehydration, metabolic acidosis and electrolyte disturbances. Intestinal dysmotility, small-bowel obstruction and esophagitis (with or without esophageal hernia), as well as irritable bowel syndrome (without severe abdominal pain) and Crohn''s disease are frequently associated. There is evidence the disease is caused by heterozygous mutation in the GUCY2C gene on chromosome 12p12.|SNOMEDCT_US|N|
C5191660|A rare neoplasm that consists of neuroendocrine and non-neuroendocrine cellular components. At least 30% of either component should be present for the diagnosis to be made.|NCI|N|
C5191668|A rare uterine cancer characterized by a usually intracavitary, friable, relatively well-circumscribed tumor located in the corpus uteri, with possible infiltration of the myometrium, composed, microscopically, of cells resembling urothelial transition cells, with a papillary or polypoid growth pattern, typically admixed with another type of carcinoma (frequently endometrial adenocarcinoma), generally manifesting with postmenopausal vaginal bleeding.|ORDO|N|
C5191669|A rare acquired motor neuron disease with characteristics of a slowly progressive unilateral ascending or descending hemiplegia, associated with unilateral or asymmetrical pyramidal signs and no sensory loss. It is a diagnosis of exclusion and controversy exists regarding whether the presence of bulbar symptoms, sphincter disturbances, fasciculations or cognitive manifestations are characteristics of the disease.|SNOMEDCT_US|N|
C5191670|A neurodegenerative disease that is characterized by the abnormal accumulation of aggregates of alpha-synuclein protein in neurons, nerve fibers or glial cells. [url:http://en.wikipedia.org/wiki/Synucleinopathies ]|MONDO|N|
C5191673|Body weight as reported by individual.|SNOMEDCT_US|N|
C5191781|Level of understanding about food, nutrition, and health or nutrition related information and guidelines relevant to client needs as demonstrated by individual.|SNOMEDCT_US|N|
C5191782|Level of food, nutrition, and health or nutrition-related skills relevant to client needs as demonstrated by supportive individual(s).|SNOMEDCT_US|N|
C5191783|Level of understanding about food, nutrition, and health or nutrition related information and guidelines relevant to client needs as demonstrated by supportive individual(s).|SNOMEDCT_US|N|
C5191836|A rare hereditary nonmedullary thyroid carcinoma characterized by the presence of differentiated thyroid cancer of follicular cell origin in two or more first-degree relatives, in the absence of other familial tumor syndromes or radiation exposure. Frequent capsular invasion is observed. Biopsy reveals multicentric tumors with multiple adenomatous nodules with or without oxyphilia and follicular or papillary carcinoma histology.|SNOMEDCT_US|N|
C5191837|A rare genetic developmental defect during embryogenesis syndrome with characteristics of camptodactyly, joint contractures with amyotrophy, and ectodermal anomalies (oligodontia, enamel abnormalities, longitudinally broken nails, hypohidrotic skin with tendency to excessive bruising and scarring after injuries and scratching), as well as growth retardation, kyphoscoliosis, mild facial dysmorphism and microcephaly. There have been no further descriptions in the literature since 1992.|SNOMEDCT_US|N|
C5191839|A rare potentially life-threatening vascular malformation with characteristics of a direct communication between an artery and a vein, without the interposition of the capillary bed, occurring in the systemic circulation (mainly the cranium, liver, lungs, extremities, and vessels in or near the thoracic wall). Manifestations are variable depending on size and extent of the fistula, the involved blood vessels and the precise location of the collaterals and may include systolic or continuous murmur over the affected organ, tachycardia, increased stroke volume, cardiomegaly and increased pulmonary vascular markings.|SNOMEDCT_US|N|
C5192105|Self reported commonly observed or stable adult weight over time.|SNOMEDCT_US|N|
C5192203|Level of food, nutrition, and health or nutrition-related skills relevant to client needs as demonstrated by individual client.|SNOMEDCT_US|N|
C5192371|A spectrum of lower urogenital tract signs and symptoms that are associated with the decreased production of estrogen experienced during menopause. Findings may include genital dryness, burning or irritation, dyspareunia, decreased libido, urinary urgency, dysuria and recurrent urinary tract infections.|NCI|N|
C5192429|A very rare hepatic and biliary tract neoplasm with a growth pattern resembling that found in hepatocellular carcinomas and cholangiocarcinomas but presenting atypical histological and immunohistochemical features (such as trabecular, organoid, microcystic and/or blastemal-like architecture and inhibin A, cytokeratin 7 and/or cytokeratin 19 positivity) that do not allow a formal diagnosis of the more common aforementioned liver cancers. Patients may present abdominal distension and pain, a palpable abdominal mass and elevated liver enzymes.|SNOMEDCT_US|N|
C5192430|A rare osteonecrosis disease with characteristics of death of bone cellular components secondary to an interruption of the subchondral blood supply. The disease typically manifests with unilateral or bilateral, unifocal or multifocal lesions usually located on the epiphysis, metaphysis and/or diaphysis of the femoral heads, knees, shoulders, ankles and/or wrists, leading to gradual onset of pain and progressive joint degeneration resulting in loss of function. Association with corticosteroid usage, alcoholism, hyperbaric events, radiation or cytotoxic agent exposure, hemoglobinopathies, and/or underlying autoimmune or metabolic disease amongst others has been observed.|SNOMEDCT_US|N|
C5192431|A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of varying degrees of intellectual disability, global developmental delay (notably with severe speech and language impairment), muscular hypotonia, and facial dysmorphism (such as broad forehead, bitemporal narrowing, upslanting palpebral fissures, low-set ears, flat nasal bridge, bulbous nose and variably macroglossia). Highly variable additional features include cardiac defects (including persistent foramen ovale, ventricular septal defects, tetralogy of Fallot), coordination problems, seizures, abnormal growth parameters (including microcephaly, low birth and postnatal weight) and brain morphology anomalies (such as ventriculomegaly and myelination defects).|SNOMEDCT_US|N|
C5192432|A rare PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) related overgrowth syndrome disease with characteristics of segmental and progressive overgrowth, predominantly involving the adipose tissue, or a mixture of adipose and fibrous tissue, with variable involvement of subcutaneous and muscular tissue, as well as skeletal overgrowth. Overgrowth severity and range is highly variable although frequently it is asymmetric and disproportionate, it affects lower extremities more than the upper ones and progresses in a distal to proximal patten. Congenital overgrowth is typically associated.|SNOMEDCT_US|N|
C5192444|A separation (dissection) of the layers of the celiac artery wall.|HPO|N|
C5192593|A rare genetic chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 21. The disease has characteristics of pre and post-natal growth delay, short stature, intellectual disability, developmental delay with severe language impairment, thrombocytopenia and craniofacial dysmorphism which may include microcephaly, downslanted palpebral fissures, low-set ears, broad nose, thin upper vermillion and downturned corners of the mouth. Brain MRI abnormalities (such as agenesis of the corpus callosum) behavioural problems and seizures may be associated.|SNOMEDCT_US|N|
C5192594|A rare genetic non-dystrophic myopathy disease with characteristics of childhood-onset severe external ophthalmoplegia, typically without ptosis, associated with mild, very slowly progressive muscular weakness and atrophy, involving the facial, neck flexor and limb muscles. Muscle biopsy shows type 1 fibre uniformity, absent or abnormally small type 2A fibres, increased variability of fibre size, internalised nuclei and/or fatty infiltration.|SNOMEDCT_US|N|
C5192595|A rare genetic syndromic intellectual disability disease with characteristics of global developmental delay, microcephaly, mild to moderate intellectual disability, truncal ataxia, trunk and limb, or generalised, choreiform movements, and elevated serum creatine kinase levels. Variably associated features include mild cerebral atrophy, muscular weakness or hypotonia in early childhood, and/or seizures. Ocular abnormalities (for example exophoria, anisometropia, amblyopia) have been reported.|SNOMEDCT_US|N|
C5192596|A rare genetic syndromic intellectual disability disorder with characteristics of variable degrees of intellectual disability, behavioral problems (including attention deficit and hyperactivity disorder, autism spectrum disorder, and aggressiveness) an altered sleeping pattern and delayed speech and language development associated with disruption of ankyrin 3 (ANK3 gene). Additional features observed may include muscular hypotonia and spasticity. Epilepsy, chronic hunger and dysmorphic facial features have been reported.|SNOMEDCT_US|N|
C5192681|Hereditary mixed polyposis syndrome (HMPS) describes an autosomal dominantly inherited large-bowel disease with characteristics of the presence of a mixture of hyperplastic, atypical juvenile and adenomatous polyps that are associated with an increased risk of developing colorectal cancer if left untreated.|SNOMEDCT_US|N|
C5192959|A rare genetic mitochondrial oxidative phosphorylation disorder with characteristics of either late-onset myopathy with progressive external ophthalmoplegia and muscular weakness (predominantly limb-girdle) or early-onset myopathy presenting with decreased fetal movements, congenital ptosis, progressive external ophthalmoplegia, hypotonia and variably joint contractures. Reduced content and multiple deletions of mitochondrial DNA is observed in muscle biopsy. Caused by heterozygous mutation in the DNA2 gene on chromosome 10q.|SNOMEDCT_US|N|
C5193005|GIST-plus syndrome (GISTPS) is an autosomal dominant disorder characterized by incomplete penetrance of multiple mesenchymal tumors of the gastrointestinal tract, including gastrointestinal stromal tumor (GIST), inflammatory fibroid polyps (IFP), and fibroid tumors (FT). Some patients have been reported with coarse facies and skin, broad hands and feet, and premature tooth loss. Isolated GISTs and IFPs are seen in patients with somatic PDGFRA mutations (summary by Manley et al., 2018).|OMIM|N|
C5193006|D-lactic aciduria is characterized by elevated D-lactate in plasma and urine. Patients show elevated serum uric acid concentrations and low urinary uric acid levels, due to reduced renal clearance of uric acid, and affected adults may experience episodes of gouty arthropathy (Drabkin et al., 2019).
For a discussion of genetic heterogeneity of serum uric acid concentration quantitative trait loci, see UAQTL1 (138900).|OMIM|N|
C5193008|Mullegama-Klein-Martinez syndrome (MKMS) is an X-linked recessive disorder with features of microcephaly, microtia, hearing loss, developmental delay, dysmorphic features, congenital heart defect, and digit abnormalities. Females are generally affected more severely than males (Mullegama et al., 2019).|OMIM|N|
C5193009|X-linked intellectual developmental disorder-108 (MRX108) is characterized by early hypotonia, global developmental delay, and moderately to severely impaired intellectual development. Brisk tendon reflexes, variable facial dysmorphism, and fifth finger clinodactyly may be present (Khayat et al., 2019).|OMIM|N|
C5193010|Paganini-Miozzo syndrome (MRXSPM) is a neurodevelopmental disorder characterized by global developmental delay, impaired intellectual development, high myopia, and mild dysmorphic facial features (summary by Paganini et al., 2019)|OMIM|N|
C5193011|Nephrotic syndrome type 20 (NPHS20) is an X-linked renal disorder characterized by onset of steroid-resistant nephrotic syndrome and proteinuria in the first decade of life in affected males. The course of the disorder is highly variable: some patients progress to end-stage kidney disease and may die in childhood without renal transplantation, whereas others have milder symptoms and maintain normal renal function. Carrier females may have a milder disorder with proteinuria or may be unaffected. Renal biopsy typically shows focal segmental glomerulosclerosis (FSGS) and effacement of podocyte foot processes (summary by Dorval et al., 2019 and Kampf et al., 2019).
For a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome, see NPHS1 (256300).|OMIM|N|
C5193013|Y-linked deafness-2 (DFNY2) is characterized by male-limited bilateral progressive sensorineural hearing loss of variable severity, with onset in the third to fifth decades of life (Di Stazio et al., 2019).
For a discussion of genetic heterogeneity of Y-linked deafness, see DFNY1 (400043).|OMIM|N|
C5193014|Distal arthrogryposis is a clinically and genetically heterogeneous disorder characterized by clenched fist, overlapping fingers, camptodactyly, ulnar deviation, and positional foot deformities from birth. It is a disorder of primary limb malformation without primary neurologic or muscle disease. DA1 is not associated with other abnormalities, whereas other forms of DA have additional phenotypic features (Bamshad et al., 1996). The congenital contractures in DA2B (Sheldon-Hall syndrome, SHS) are similar to those observed in DA1, but affected individuals tend to have more prominent nasolabial folds, downslanting palpebral fissures, and a small mouth. DA2B is thought to be the most common of the distal arthrogryposis disorders (summary by Bamshad et al., 2009).
For a general phenotypic description and a discussion of genetic heterogeneity of distal arthrogryposis, see DA1 (108120).|OMIM|N|
C5193016|Congenital arthrogryposis with anterior horn cell disease (CAAHD) is an autosomal recessive neuromuscular disorder with highly variable severity. Affected individuals are usually noted to have contractures in utero on prenatal ultrasound studies, and present at birth with generalized contractures manifest as arthrogryposis multiplex congenita (AMC). Patients have severe hypotonia with respiratory insufficiency, often resulting in death in infancy or early childhood. Some patients may survive into later childhood with supportive care, but may be unable to walk or sit independently due to a combination of muscle weakness and contractures. Cognition may be normal. The disorder also includes multiple congenital anomalies associated with AMC and hypotonia, including high-arched palate, myopathic facies, and bulbar weakness. Neuropathologic studies demonstrate severe loss of anterior horn cells in the spinal cord, as well as diffuse motor neuron axonopathy (summary by Smith et al., 2017 and Tan et al., 2017).
Distinction from Lethal Congenital Contracture Syndrome 1
Biallelic mutation in the GLE1 gene can also cause LCCS1, which is lethal in utero. However, distinguishing between LCCS1 and CAAHD is controversial. Smith et al. (2017) suggested that differentiating between the 2 disorders has limited utility, and that they may represent a genotype/phenotype correlation rather than 2 different disease entities. In contrast, Said et al. (2017) concluded that LCCS1 represents a distinct clinical entity in which all affected individuals die prenatally and exhibit no fetal movements.
Vuopala et al. (1995) differentiated CAAHD from LCCS1, noting that both are prevalent in Finland. LCCS1 is always fatal during the fetal period, presenting with severe hydrops and intrauterine growth retardation. In LCCS1, the spinal cord is macroscopically thinned because of an early reduction of the anterior horn and a paucity of anterior horn cells. The skeletal muscles are extremely hypoplastic, even difficult to locate. Infants with CAAHD survive longer than those with LCCS1, and when present, hydrops and intrauterine growth retardation are mild. The macroscopic findings of the central nervous system and skeletal muscles are closer to normal, although microscopic analysis also shows degeneration of anterior horn cells. In addition, birthplaces of ancestors of affected individuals do not show clustering in the northeast part of Finland, as is the case with LCCS1.|OMIM|N|
C5193018|CRDHL1 is characterized by cone-rod dystrophy and sensorineural hearing loss, with relatively late onset of both ocular and hearing impairment. The funduscopic findings are characteristic, showing ring-shaped atrophy along the major vascular arcades that manifests on fundus autofluorescence as a hypoautofluorescent band along the vascular arcades surrounded by hyperautofluorescent borders (Namburi et al., 2016).
Genetic Heterogeneity of Cone-Rod Dystrophy and Hearing Loss
CRDHL2 (618358) is caused by mutation in the CEP250 gene (609689) on chromosome 20q11.|OMIM|N|
C5193019|Warburg-Cinotti syndrome (WRCN) is characterized by progressive corneal neovascularization, keloid formation, chronic skin ulcers, wasting of subcutaneous tissue, flexion contractures of the fingers, and acroosteolysis (Xu et al., 2018).|OMIM|N|
C5193020|Diamond-Blackfan anemia (DBA) is characterized by a profound normochromic and usually macrocytic anemia with normal leukocytes and platelets, congenital malformations in up to 50%, and growth deficiency in 30% of affected individuals. The hematologic complications occur in 90% of affected individuals during the first year of life. The phenotypic spectrum ranges from a mild form (e.g., mild anemia or no anemia with only subtle erythroid abnormalities, physical malformations without anemia) to a severe form of fetal anemia resulting in nonimmune hydrops fetalis. DBA is associated with an increased risk for acute myelogenous leukemia (AML), myelodysplastic syndrome (MDS), and solid tumors including osteogenic sarcoma.|GeneReviews|N|
C5193021|Diamond-Blackfan anemia (DBA) is characterized by a profound normochromic and usually macrocytic anemia with normal leukocytes and platelets, congenital malformations in up to 50%, and growth deficiency in 30% of affected individuals. The hematologic complications occur in 90% of affected individuals during the first year of life. The phenotypic spectrum ranges from a mild form (e.g., mild anemia or no anemia with only subtle erythroid abnormalities, physical malformations without anemia) to a severe form of fetal anemia resulting in nonimmune hydrops fetalis. DBA is associated with an increased risk for acute myelogenous leukemia (AML), myelodysplastic syndrome (MDS), and solid tumors including osteogenic sarcoma.|GeneReviews|N|
C5193022|Diamond-Blackfan anemia (DBA) is characterized by a profound normochromic and usually macrocytic anemia with normal leukocytes and platelets, congenital malformations in up to 50%, and growth deficiency in 30% of affected individuals. The hematologic complications occur in 90% of affected individuals during the first year of life. The phenotypic spectrum ranges from a mild form (e.g., mild anemia or no anemia with only subtle erythroid abnormalities, physical malformations without anemia) to a severe form of fetal anemia resulting in nonimmune hydrops fetalis. DBA is associated with an increased risk for acute myelogenous leukemia (AML), myelodysplastic syndrome (MDS), and solid tumors including osteogenic sarcoma.|GeneReviews|N|
C5193023|Hypomagnesemia, seizures, and impaired intellectual development-2 (HOMGSMR2) is characterized by generalized seizures in infancy, severe hypomagnesemia, and renal magnesium wasting. Seizures persist despite magnesium supplementation and are associated with significantly impaired intellectual development (Schlingmann et al., 2018).
For a discussion of genetic heterogeneity of hypomagnesemia, seizures, and impaired intellectual development, see HOMGSMR1 (616418).|OMIM|N|
C5193024|IDDCDF is an autosomal recessive syndromic neurodevelopmental disorder characterized by globally impaired development with intellectual disability and speech delay, congenital cardiac malformations, and dysmorphic facial features. Additional features, such as distal skeletal anomalies, may also be observed (Stephen et al., 2018).|OMIM|N|
C5193025|Autosomal recessive idiopathic basal ganglia calcification-7 is a neurologic disorder characterized by onset of symptoms in adulthood. Patients present with dysarthria, gait abnormalities, various movement abnormalities, and often cognitive decline. Brain imaging shows abnormal accumulation of calcium deposits in deep brain regions, including the basal ganglia, thalamus, dentate nuclei, cerebellum, and sometimes other areas of the brain and spinal cord. Some patients with brain imaging abnormalities may be clinically asymptomatic (summary by Yao et al., 2018).
For a detailed phenotypic description and a discussion of genetic heterogeneity of IBGC, see IBGC1 (213600).|OMIM|N|
C5193026|Early-onset progressive encephalopathy with brain edema and/or leukoencephalopathy-2 (PEBEL2) is an autosomal recessive severe neurometabolic disorder characterized by rapidly progressive neurologic deterioration that is usually associated with a febrile illness. Affected infants tend to show normal early development followed by acute psychomotor regression with ataxia, hypotonia, and sometimes seizures, resulting in death in the first years of life. Brain imaging shows multiple abnormalities, including brain edema and signal abnormalities in the cortical and subcortical regions (summary by Van Bergen et al., 2019).
For a discussion of genetic heterogeneity of PEBEL, see PEBEL1 (617186).|OMIM|N|
C5193027|Congenital myasthenic syndrome-25 (CMS25) is an autosomal recessive neuromuscular disorder characterized by hypotonia and generalized muscle weakness apparent from birth. Affected individuals have feeding difficulties and delayed motor development, usually never achieving independent ambulation. Additional variable features include eye movement abnormalities, joint contractures, and rigid spine. Pyridostigmine treatment may be partially effective (summary by Shen et al., 2017).
For a discussion of genetic heterogeneity of CMS, see CMS1A (601462).|OMIM|N|
C5193029|Lissencephaly-9 with complex brainstem malformation (LIS9) is an autosomal dominant neurologic disorder characterized by global developmental delay apparent since infancy, impaired intellectual development with poor or absent speech, and sometimes abnormal or involuntary movements associated with abnormal brain imaging that typically shows pachygyria, lissencephaly, and malformation of the brainstem consistent with a neuronal migration defect (summary by Dobyns et al., 2018).
For a general description and a discussion of genetic heterogeneity of lissencephaly, see LIS1 (607432).|OMIM|N|
C5193030|Developmental and epileptic encephalopathy-71 (DEE71) is characterized by early neonatal refractory seizures, respiratory failure, structural brain abnormalities and cerebral edema, with death within weeks after birth. Glutamine levels are significantly increased (z score 3.2-11.7). Three patients have been described (summary by Rumping et al., 2019).|OMIM|N|
C5193031|Combined oxidative phosphorylation deficiency-37 is an autosomal recessive multisystem disorder apparent at birth or in the first months of life. Affected individuals have hypotonia, failure to thrive, and neurodegeneration with loss of developmental milestones, as well as liver dysfunction. Some patients may have hypertrophic cardiomyopathy, loss of vision and hearing, and/or seizures. Mitochondrial respiratory dysfunction is apparent in liver and skeletal muscle tissue. Most patients die in childhood (summary by Zeharia et al., 2016).
For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060).|OMIM|N|
C5193034|Menke-Hennekam syndrome-1 (MKHK1) is a congenital disorder characterized by variable impairment of intellectual development and facial dysmorphisms. Feeding difficulties, autistic behavior, recurrent upper airway infections, hearing impairment, short stature, and microcephaly are also frequently seen. Although mutations in the same gene cause Rubinstein-Taybi syndrome-1 (RSTS1; 180849), patients with MKHK1 do not resemble the striking phenotype of RSTS1.
Genetic Heterogeneity of Menke-Hennekam Syndrome
Menke-Hennekam syndrome-2 (MKHK2; 618333) is caused by heterozygous mutation in exons 30 or 31 of the EP300 gene (602700). Mutation elsewhere in that gene results in RSTS2 (613684).|OMIM|N|
C5193035|Menke-Hennekam syndrome-2 (MKHK2) is a congenital disorder characterized by variable impairment of intellectual development and facial dysmorphisms. Feeding difficulties, autistic behavior, recurrent upper airway infections, and hearing impairment are also frequently seen. Although mutations in the same gene cause Rubinstein-Taybi syndrome-2 (RSTS2; 613684), patients with MKHK1 do not resemble the striking phenotype of RSTS2.
For a discussion of genetic heterogeneity of Menke-Hennekam syndrome, see MKHK1 (618332).|OMIM|N|
C5193036|IMAGEI is an autosomal recessive disorder characterized by intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency. Patients exhibit distinctive facial features and variable immune dysfunction with evidence of lymphocyte deficiency (Logan et al., 2018).
An autosomal dominant form of the disorder, without immunodeficiency (IMAGE; 614732), is caused by mutation in the CDKN1C gene (600856) on chromosome 11p15.|OMIM|N|
C5193037|Aside from the clinical features of infantile cataract, skin abnormalities, and impaired intellectual development, CASGID is characterized by strikingly high intracerebral and urinary glutamate excess with almost undetectable glutamine. A gain-of-function mutation in the GLS gene was found (see MOLECULAR GENETICS) (Rumping et al., 2019). GLS loss of function is implicated in developmental and epileptic encephalopathy-71 (DEE71; 618328) and a syndrome of global developmental delay and progressive ataxia (GDPAG; 618412).|OMIM|N|
C5193038|Spermatogenic failure-35 (SPGF35) is characterized by multiple morphologic abnormalities of the flagella (MMAF), resulting in spermatozoa with severely impaired motility and infertility. Short, thickened, and coiled flagella are primarily observed, as well as absent flagella, and abnormalities of axonemal composition are also present (Shen et al., 2019).|OMIM|N|
C5193040|Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome is an autosomal recessive disorder with a highly variable phenotype. Although all patients have polymicrogyria and other variable structural brain anomalies on imaging, only some show developmental delay and/or seizures. Similarly, only some patients have connective tissue defects that particularly affect the vascular system and can result in early death (summary by Vandervore et al., 2017).|OMIM|N|
C5193042|Microcephaly, growth deficiency, seizures, and brain malformations (MIGSB) is a severe autosomal recessive disorder characterized by intrauterine growth retardation, postnatal growth deficiency with severe microcephaly, and poor or absent psychomotor development. Additional features include optic atrophy, early-onset seizures, dysmorphic facial features, and brain malformations, such as partial agenesis of the corpus callosum and simplified gyration (summary by Shaheen et al., 2015).|OMIM|N|
C5193043|Galloway-Mowat syndrome is a phenotypically heterogeneous disorder characterized by neurodevelopmental defects combined with renal-glomerular disease manifest as nephrotic syndrome and proteinuria. Most patients with GAMOS6 also have growth deficiency with variable microcephaly, and the renal disease may be age-dependent. Additional variable endocrine abnormalities have also been reported (summary by Braun et al., 2018).
For a general phenotypic description and a discussion of genetic heterogeneity of GAMOS, see GAMOS1 (251300).|OMIM|N|
C5193044|Galloway-Mowat syndrome-7 (GAMOS7) is an autosomal recessive disorder characterized by developmental delay, microcephaly, and early-onset nephrotic syndrome (summary by Rosti et al., 2017).
For a general phenotypic description and a discussion of genetic heterogeneity of GAMOS, see GAMOS1 (251300).|OMIM|N|
C5193045|Galloway-Mowat syndrome-8 is an autosomal recessive disorder characterized by impaired psychomotor development, poor overall growth with microcephaly, and early-onset progressive nephrotic syndrome associated with focal segmental glomerulosclerosis on renal biopsy. Some patients may have seizures, and some may die in childhood (summary by Fujita et al., 2018).
For a general phenotypic description and a discussion of genetic heterogeneity of GAMOS, see GAMOS1 (251300).|OMIM|N|
C5193047|Oocyte/zygote/embryo maturation arrest-6 (OZEMA6) is characterized by primary infertility due to defective sperm-binding to an abnormally thin zona pellucida (ZP) in patient oocytes. Successful pregnancy may be achieved by intracytoplasmic sperm injection in these patients (Dai et al., 2019).
For a discussion of genetic heterogeneity of OZEMA, see 615774.|OMIM|N|
C5193048|Houge-Janssens syndrome-3 (HJS3) is characterized by global developmental delay apparent from infancy. The phenotype is highly variable: patients may have hypotonia, behavioral abnormalities, and abnormalities on brain imaging, including enlarged ventricles, thin corpus callosum, and sometimes small brainstem. Many develop seizures, sometimes refractory, and some may have nonspecific dysmorphic features. Intellectual impairment can vary from mild to profound, and some patients may benefit from special education and respond well to speech therapy (summary by Reynhout et al., 2019).
For a discussion of genetic heterogeneity of HJS, see HJS1 (616355).|OMIM|N|
C5193049|Neurodevelopmental disorder with central and peripheral motor dysfunction (NEDCPMD) is an autosomal recessive neurologic disorder with a highly variable phenotype. At the severe end of the spectrum, patients may have hypotonia apparent from birth, necessitating mechanical respiration and tube-feeding, and global developmental delay with absence of reaction to touch and no eye contact. At the mild end of the spectrum, patients may present with infantile-onset progressive ataxia and demyelinating peripheral neuropathy. The disorder is caused by mutation in the NFASC gene, which has several neuronal- and glial-specific transcripts. The variable clinical phenotype may be caused by several factors, including the severity of the mutation, the selective involvement of distinct isoforms by pathogenic variants, and the presence of genetic modifiers (summary by Monfrini et al., 2019).|OMIM|N|
C5193050|Susceptibility to idiopathic generalized epilepsy-15 (EIG15) is an autosomal dominant seizure disorder characterized by onset of variable types of seizures in the first decade. Absence seizures are the most common manifestation, but most patients also develop other types, including clonic or generalized tonic-clonic seizures. EEG tends to show 3-Hz spike-wave discharges, whereas brain imaging is normal. The majority of patients also have developmental delay associated with impaired intellectual development apparent from infancy or early childhood (summary by Rudolf et al., 2016).
For a general phenotypic description and a discussion of genetic heterogeneity of idiopathic generalized epilepsy, see EIG (600669).|OMIM|N|
C5193051|Cone-rod dystrophy and hearing loss-2 (CRDHL2) is characterized by retinal dystrophy, with photophobia and progressive reduction in visual acuity, associated with sensorineural hearing loss (Kubota et al., 2018).
For a discussion of genetic heterogeneity of cone-rod dystrophy and hearing loss, see CRDHL1 (617236).|OMIM|N|
C5193053|Brain small vessel disease-3 (BSVD3) is an autosomal recessive disorder resulting from fragility of cerebral vessels causing an increased risk of intracranial bleeding. The resultant phenotype is highly variable depending on timing and location of the intracranial bleed. Some patients may have onset in utero or early infancy, with subsequent global developmental delay, spasticity, and porencephaly on brain imaging. Other patients may have normal or mildly delayed development with sudden onset of intracranial hemorrhage causing acute neurologic deterioration (summary by Miyatake et al., 2018).
For a discussion of genetic heterogeneity of brain small vessel disease, see BSVD1 (175780).|OMIM|N|
C5193054|Coffin-Siris syndrome (CSS) is classically characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth and additional digits, developmental or cognitive delay of varying degree, distinctive facial features, hypotonia, hirsutism/hypertrichosis, and sparse scalp hair. Congenital anomalies can include malformations of the cardiac, gastrointestinal, genitourinary, and/or central nervous systems. Other findings commonly include feeding difficulties, slow growth, ophthalmologic abnormalities, and hearing impairment.|GeneReviews|N|
C5193055|Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis (SSASKS)is characterized by disproportionate short stature, defective tooth enamel formation, and skeletal dysplasia with severe scoliosis in some patients. Variable features include facial dysmorphism, moderate hearing impairment, and mildly impaired intellectual development (Ashikov et al., 2018).|OMIM|N|
C5193056|Familial myoclonus-2 is an autosomal dominant neurologic condition characterized by childhood onset of isolated action-induced nonepileptic myoclonus affecting the upper limbs. The disorder is nonprogressive (Wagnon et al., 2018).|OMIM|N|
C5193057|A rare, genetic, neurometabolic disease characterized by microcephaly, short stature, epilepsy, cerebral hypomyelination, severe global developmental delay, and progressive spasticity. Macrocytic anemia and hyperthermia have also been reported in association. Brain imaging reveals delayed myelination with minimal progression over time, mild cerebellar atrophy and/or thin corpus callosum.|ORPHANET|N|
C5193058|Autosomal recessive spinocerebellar ataxia-27 (SCAR27) is an adult-onset neurologic disorder characterized by gait difficulties and other cerebellar signs, such as eye movement abnormalities, dysarthria, and difficulty writing. The disorder is progressive, and some patients may lose independent ambulation. Additional features include spasticity of the lower limbs and cognitive impairment. Brain imaging shows cerebellar atrophy (summary by Eidhof et al., 2018).|OMIM|N|
C5193060|Turnpenny-Fry syndrome (TPFS) is characterized by developmental delay, impaired intellectual development, impaired growth, and recognizable facial features that include frontal bossing, sparse hair, malar hypoplasia, small palpebral fissures and oral stoma, and dysplastic 'satyr' ears. Other common findings include feeding problems, constipation, and a range of brain, cardiac, vascular, and skeletal malformations (Turnpenny et al., 2018).|OMIM|N|
C5193062|CAPOK syndrome (CAPOK) is characterized by onset of symptoms in the first year of life, with the development of progressive alopecia, hypo- and hyperpigmented macular skin lesions, palmoplantar keratoderma, and nail dystrophy. Beginning in the third decade of life, patients develop recurrent squamous cell carcinomas. Some patients may have brittle teeth resulting in tooth loss, and multinodular goiter has been observed (Courcet et al., 2015).|OMIM|N|
C5193063|Developmental and epileptic encephalopathy-72 (DEE72) is neurologic disorder characterized by the onset of infantile spasms around 5 months of age. The seizures tend to be refractory to treatment. EEG may show hypsarrhythmia, consistent with a clinical diagnosis of West syndrome. Affected individuals show severely delayed psychomotor development with impaired or absent walking and language skills. Additional more variable features include hyperkinetic movements and cortical visual impairment (summary by Sega et al., 2019).
For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350.|OMIM|N|
C5193065|Developmental and epileptic encephalopathy-73 (DEE73) is a neurologic disorder characterized by the onset of refractory seizures in the first months of life. Affected individuals meet almost no developmental milestones: they have hypotonia and are unable to walk, speak, or feed properly. They have poor overall growth with small head circumference and dysmorphic facial features. Additional manifestations include cortical visual impairment with roving eye movements and variable hearing loss (summary by Edvardson et al., 2019).
For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350.|OMIM|N|
C5193066|A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by variable intellectual disability and/or developmental delay, epilepsy, generalized hypertrichosis, severe gingival overgrowth and visual impairment in some patients. Common craniofacial features include bitemporal narrowing, bushy and straight eyebrows, long eyelashes, low-set ears, deep/short philtrum, everted upper lip, prominent upper and lower vermilion, wide mouth, micrognathia, and retrognathia.|ORPHANET|N|
C5193068|Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate (ARLIAK) is an autosomal recessive disorder characterized by acute reversible neurologic deterioration in the context of a febrile illness. The disorder is associated with transient leukoencephalopathy on brain imaging concurrent with the acute episode, as well as persistently increased excretion of dicarboxylic acids, particularly alpha-ketoglutarate (summary by Dewulf et al., 2019).|OMIM|N|
C5193069|Amelogenesis imperfecta type IIIC is characterized by hypocalcified enamel in both the primary and secondary dentition. The enamel is rough and yellow-brown; under normal use, the enamel disintegrates from occlusal surfaces of the molars, leaving a ring of intact enamel remaining on the sides. Some affected individuals have anterior open bite (Kim et al., 2019).|OMIM|N|
C5193070|Spinocerebellar ataxia with axonal neuropathy-3 (SCAN3) is an autosomal recessive neuromuscular disorder characterized by onset in the first decade of slowly progressive distal muscle weakness and atrophy and distal sensory impairment due to an axonal peripheral neuropathy. Affected individuals have gait disturbances and sometimes manual dexterity difficulties, as well as cerebellar ataxia associated with cerebellar atrophy on brain imaging. Additional features usually include dysarthria, hyporeflexia, and increased serum creatine kinase. Some patients may have impaired intellectual development (summary by Higuchi et al., 2018).
For a discussion of genetic heterogeneity of SCAN, see SCAN1 (607250).|OMIM|N|
C5193071|The Kondo-Fu type of spondyloepiphyseal dysplasia (SEDKF) is characterized by severely retarded growth and skeletal anomalies, including spondyloepiphyseal dysplasia with associated kyphosis and reduced bone mineral density. Elevated levels of blood lysosomal enzymes have also been observed (Kondo et al., 2018).|OMIM|N|
C5193072|Immunodeficiency-60 and autoimmunity (IMD60) is an autosomal dominant primary immunologic disorder characterized by inflammatory bowel disease and recurrent sinopulmonary infections. The age at symptom onset is highly variable, ranging from infancy to mid-adulthood. Laboratory studies show dysregulation of both B and T cells, with variably decreased immunoglobulin production, decreased T-regulatory cells, and overall impaired lymphocyte maturation (summary by Afzali et al., 2017).|OMIM|N|
C5193073|Spondyloepimetaphyseal dysplasia with joint laxity-3 (SEMDJL3) is characterized by multiple joint dislocations at birth, severe joint laxity, scoliosis, gracile metacarpals and metatarsals, delayed bone age, and poorly ossified carpal and tarsal bones (Girisha et al., 2016).
For a discussion of genetic heterogeneity of SEMD with joint laxity, see SEMDJL1 (271640).|OMIM|N|
C5193074|Developmental and epileptic encephalopathy-74 (DEE74) is neurologic disorder characterized by the onset of refractory seizures in the first months of life. Seizure types are variable and include infantile spasms, myoclonic, tonic, atonic, and absence, often with secondary generalization. Affected individuals have severe global developmental delay with hypotonia, severe motor impairment, roving eye movements, and absent language (summary by Shen et al., 2017).
For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350.|OMIM|N|
C5193075|Combined oxidative phosphorylation deficiency-39 (COXPD39) is an autosomal recessive multisystem disorder resulting from a defect in mitochondrial energy metabolism. Affected individuals show global developmental delay, sometimes with regression after normal early development, axial hypotonia with limb spasticity or abnormal involuntary movements, and impaired intellectual development with poor speech. More variable features may include hypotonia, seizures, and features of Leigh syndrome (256000) on brain imaging. There are variable deficiencies of the mitochondrial respiratory chain enzyme complexes in patient tissues (summary by Glasgow et al., 2017).
For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060).|OMIM|N|
C5193076|Charcot-Marie-Tooth disease type 2EE (CMT2EE) is an autosomal recessive sensorimotor peripheral axonal neuropathy with onset in the first or second decades of life. The disorder primarily affects the lower limbs and is slowly progressive, sometimes resulting in loss of ambulation, with later onset of upper limb involvement. There is significant distal muscle weakness and atrophy, usually with foot or hand deformities. Skeletal muscle biopsy shows findings of disturbed mitochondrial maintenance. Cognition is unaffected, and chronic liver disease is absent (summary by Baumann et al., 2019).
For a phenotypic description and a discussion of genetic heterogeneity of axonal CMT type 2, see CMT2A (118210).|OMIM|N|
C5193077|MRT70 is characterized primarily by impaired intellectual development. Mild facial dysmorphism, febrile seizures, and behavioral abnormalities have been reported in some patients (Maddirevula et al., 2018; Perez et al., 2018).|OMIM|N|
C5193078|Hypomyelinating leukodystrophy-18 (HLD18) is an autosomal recessive neurologic disorder characterized by onset of global developmental delay usually in early infancy. Affected individuals have very poor psychomotor development, including inability to sit or walk independently in the more severe cases, as well as poor or absent speech, dystonia, and spasticity. A subset of patients may develop seizures. Brain imaging shows hypomyelinating leukodystrophy affecting various brain regions; some patients may also have progressive atrophy of the corpus callosum, thalami, and cerebellum (summary by Pant et al., 2019).
For a general phenotypic description and a discussion of genetic heterogeneity of hypomyelinating leukodystrophy, see 312080.|OMIM|N|
C5193079|DFNB113 is characterized by postlingual progressive hearing impairment (Booth et al., 2018).|OMIM|N|
C5193080|Patients with global developmental delay, progressive ataxia, and elevated glutamine (GDPAG) present in early childhood with delay of both gross and fine motor skills and delayed speech. Ataxia develops by mid- to late childhood, necessitating use of a walker or wheelchair. Plasma glutamine is persistently elevated by a factor of 2.5 despite normal plasma ammonia levels. Residual glutaminase (GLS) activity can be detected in fibroblasts and lymphocytes. One or both alleles of the GLS gene carry an expanded GCA trinucleotide repeat in the 5-prime untranslated region (UTR); the repeat expansion may be found in compound heterozygosity with another GLS mutation. Three patients have been reported (summary by van Kuilenburg et al., 2019).|OMIM|N|
C5193081|Congenital myopathy-14 (CMYP14) is an autosomal recessive skeletal muscle disorder characterized by onset of severe muscle weakness apparent at birth and sometimes in utero. Affected infants have difficulty breathing independently and usually require mechanical ventilation for variable lengths of time. Other features include delayed motor development with delayed walking, hypo- or areflexia, and high-arched palate. Skeletal muscle biopsy shows variation in fiber size with specific atrophy of the fast-twitch type II fibers. Cardiac muscle is not affected (summary by Ravenscroft et al., 2018).
For a discussion of genetic heterogeneity of congenital myopathy, see CMYP1A (117000).|OMIM|N|
C5193082|Cataract-48 (CTRCT48) is characterized by infantile or early-childhood cataracts and visual impairment (Ansar et al., 2018).|OMIM|N|
C5193083|Recurrent metabolic crises with variable encephalomyopathic features and neurologic regression (MECREN) is an autosomal recessive metabolic disorder with a highly variable phenotype. Most affected individuals present in the first years of life with episodic lactic acidosis associated with illness or stress, resulting in transient or permanent neurologic dysfunction. Some patients may recover, whereas others show subsequent variable developmental regression of motor and cognitive skills. Other features may include dystonia, hypotonia with inability to sit or walk, seizures, and abnormal signals in the basal ganglia. There is significant phenotypic heterogeneity, even among patients with the same mutation (summary by Almannai et al., 2018).|OMIM|N|
C5193084|Spastic paraplegia-80 (SPG80) is an autosomal dominant juvenile-onset neurologic disorder characterized by onset of progressive spasticity and hyperreflexia affecting mainly the lower limbs and resulting in difficulty walking or loss of independent ambulation, sometimes as early as the second decade. Some patients may have cerebellar signs and mild cognitive impairment, but most have a pure form of the disorder (summary by Farazi Fard et al., 2019).
For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant spastic paraplegia, see SPG3A (182600).|OMIM|N|
C5193085|Myoectodermal gonadal dysgenesis syndrome (MEGD) is characterized by 46,XY complete or partial gonadal dysgenesis, or 46,XX gonadal dysgenesis, in association with extragonadal anomalies, including low birth weight, typical facies, rod and cone dystrophy, sensorineural hearing loss, omphalocele, anal atresia, renal agenesis, skeletal abnormalities, dry and scaly skin, severe myopathy, and neuromotor delay. Dysmorphic facial features along with muscular habitus are the hallmarks of the syndrome. Abnormal hair patterning with frontal upsweep and additional whorls, eyebrow abnormalities comprising broad, arched, and sparse or thick eyebrows, underdeveloped alae nasi, smooth philtrum, and low-set ears with overfolded helices facilitate a gestalt diagnosis. (Guran et al., 2019; Altunoglu et al., 2022).|OMIM|N|
C5193086|Spermatogenic failure-36 (SPGF36) is characterized by reduced fertility due to teratozoospermia, with spermatozoa showing anomalies of the head, acrosome, and nucleus (Guran et al., 2019).
For a general description and a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).|OMIM|N|
C5193087|DFNB100 is characterized by prelingual onset of profound sensorineural deafness without vestibular involvement (Yousaf et al., 2018).|OMIM|N|
C5193088|Neurodevelopmental disorder with impaired speech and hyperkinetic movements (NEDISHM) is an autosomal recessive disorder characterized by global developmental delay apparent in infancy. Most patients have mildly delayed walking, speech and language delay, and a hyperkinetic movement disorder with dystonia, tremor, ataxia, or chorea. Some may develop seizures that tend to abate (summary by Khan et al., 2019).|OMIM|N|
C5193089|Susceptibility to acute infection-induced encephalopathy-9 (IIAE9) is an autosomal recessive disorder characterized by episodic acute neurodegeneration and developmental regression associated with infections and febrile illness. Patients present in the first months or years of life, often after normal or only mildly delayed early development. Some patients may have partial recovery between episodes, such as transient ataxia, but the overall disease course is progressive, resulting in global developmental delay, abnormal movements, refractory seizures, microcephaly, and cerebellar atrophy (summary by Fichtman et al., 2019).
For a discussion of genetic heterogeneity of susceptibility to acute infection-induced encephalopathy, see 610551.|OMIM|N|
C5193091|Spermatogenic failure-37 (SPGF37) is characterized by primary male infertility with asthenoteratozoospermia. Spermatozoa exhibit severely reduced motility due to multiple morphologic abnormalities of the flagella (MMAF), primarily consisting of short or absent flagella. Neck defects at the head-tail junction are frequently seen (Liu et al., 2019).
For a general description and a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).|OMIM|N|
C5193092|Developmental delay with variable intellectual impairment and behavioral abnormalities (DDVIBA) is an autosomal dominant neurodevelopmental disorder. Most patients have impaired intellectual development with speech difficulties, and many have behavioral abnormalities, most commonly autism spectrum disorder (ASD), defects in attention, and/or hyperactivity. Many patients have dysmorphic features, although there is not a consistent gestalt. Additional more variable features may include hypotonia, somatic overgrowth with macrocephaly, mild distal skeletal anomalies, sleep disturbances, movement disorders, and gastrointestinal issues, such as constipation. The phenotype is highly variable (summary by Vetrini et al., 2019 and Torti et al., 2019).|OMIM|N|
C5193093|Hydatidiform mole is a human pregnancy with abnormal or no embryonic development and excessive trophoblastic proliferation. Partial hydatidiform moles have a triploid dispermic genome, with 2 sets of paternal chromosomes and 1 set of maternal chromosomes; complete hydatidiform moles have a diploid androgenetic genome with all chromosomes originating from 1 (monospermic) or 2 (dispermic) sperms, and no maternal chromosomes (summary by Nguyen et al., 2018).
For a discussion of genetic heterogeneity of recurrent hydatidiform mole, see HYDM1 (231090).|OMIM|N|
C5193094|Hydatidiform mole is a human pregnancy with abnormal or no embryonic development and excessive trophoblastic proliferation. Partial hydatidiform moles have a triploid dispermic genome, with 2 sets of paternal chromosomes and 1 set of maternal chromosomes; complete hydatidiform moles have a diploid androgenetic genome with all chromosomes originating from 1 (monospermic) or 2 (dispermic) sperms, and no maternal chromosomes (summary by Nguyen et al., 2018).
For a discussion of genetic heterogeneity of recurrent hydatidiform mole, see HYDM1 (231090).|OMIM|N|
C5193095|Spermatogenic failure-38 (SPGF38) is characterized by primary infertility and asthenoteratozoospermia due to multiple morphologic abnormalities of the flagella (MMAF). Spermatozoa show total sperm motility below 10% and exhibit morphologic anomalies including short, absent, coiled, bent, or irregular-caliber flagella (Coutton et al., 2019).
For a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).|OMIM|N|
C5193096|DFNB94 is characterized by prelingual profound sensorineural hearing loss (Simon et al., 2015).|OMIM|N|
C5193097|Distal arthrogryposis type 2B2 (DA2B2) is characterized by congenital contractures of the distal limb joints and facial dysmorphism. Marked inter- and intrafamilial variability has been reported (summary by Daly et al., 2014).
For a phenotypic description and a discussion of genetic heterogeneity of distal arthrogryposis, see 108120.|OMIM|N|
C5193098|Distal arthrogryposis type 2B3 (DA2B3) is characterized by facial dysmorphism and congenital joint contractures with predominantly distal involvement. Some patients exhibit muscle weakness (Tajsharghi et al., 2008). Considerable inter- and intrafamilial variability has been reported (Xu et al., 2018).|OMIM|N|
C5193099|Developmental and epileptic encephalopathy-75 (DEE75) is an autosomal recessive neurodevelopmental and neurodegenerative disorder characterized by onset of severe refractory seizures in the first months of life. Patients often have global developmental delay before the onset of seizures, and thereafter achieve few milestones. EEG usually shows multifocal spikes and hypsarrhythmia, consistent with a clinical diagnosis of West syndrome. They have severely impaired intellectual development with inability to walk, absent speech, and hypotonia with axial hyperreflexia. Brain imaging shows progressive cerebral atrophy, frontal lobe atrophy, white matter abnormalities, and delayed myelination. Since the disorder is due to mitochondrial dysfunction, some patients may develop other organ involvement, including cardiomyopathy or liver and renal dysfunction. Death may occur in childhood (summary by Yin et al., 2018).
For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350.|OMIM|N|
C5193101|Oculoskeletodental syndrome (OCSKD) is characterized by congenital cataract, short stature and various skeletal anomalies, dysmorphic facial features and dental anomalies, developmental delay, and stroke. Other recurrent features include hearing loss, secondary glaucoma, and nephrocalcinosis (Tiosano et al., 2019).|OMIM|N|
C5193102|Neurodevelopmental disorder with or without variable brain abnormalities (NEDBA) is characterized by global developmental delay apparent from infancy or early childhood, resulting in mildly delayed walking, variably impaired intellectual development, and poor or absent speech. Additional features may include hypotonia, spasticity, or ataxia. About half of patients have abnormal findings on brain imaging, including cerebral or cerebellar atrophy, loss of white matter volume, thin corpus callosum, and perisylvian polymicrogyria. Seizures are not a prominent finding, and although some patients may have nonspecific dysmorphic facial features, there is no common or consistent gestalt (summary by Platzer et al., 2019).|OMIM|N|
C5193103|Ciliary dyskinesia-41 (CILD41) is an autosomal recessive disorder characterized by chronic sinusitis, otitis media, and bronchiectasis (Bustamante-Marin et al., 2019).
For a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400).|OMIM|N|
C5193104|Early-onset neurodegeneration with choreoathetoid movements and microcytic anemia (NDCAMA) is an autosomal recessive disorder characterized by severe psychomotor developmental abnormalities, abnormal movements, and functional iron deficiency (Costain et al., 2019).|OMIM|N|
C5193106|Developmental delay with or without dysmorphic facies and autism (DEDDFA) is a complex neurodevelopmental disorder apparent from infancy or early childhood and associated with variably impaired intellectual development. Some patients may be severely affected with no speech and inability to walk, whereas others may be able to attend special schools or have normal intellectual function associated with autism spectrum disorder and mild speech delay. Genetic analysis has suggested that the phenotype can be broadly categorized into 2 main groups. Patients with TRRAP mutations affecting residues 1031-1159 have a more severe disorder, often with multisystem involvement, including renal, cardiac, and genitourinary systems, as well as structural brain abnormalities. Patients with mutations outside of that region tend to have a less severe phenotype with a higher incidence of autism and usually no systemic involvement. Patients in both groups usually have somewhat similar dysmorphic facial features, such as upslanting palpebral fissures, hypertelorism, low-set ears, and broad or depressed nasal bridge, although these features are highly variable (summary by Cogne et al., 2019).|OMIM|N|
C5193107|DFNB114 is characterized by congenital profound sensorineural hearing loss (Li et al., 2019).|OMIM|N|
C5193108|DFNB115 is characterized by severe sensorineural hearing impairment in early childhood (Ingham et al., 2019).|OMIM|N|
C5193109|Immunodeficiency-62 (IMD62) is an autosomal recessive primary immunologic disorder clinically characterized by onset of recurrent upper and lower respiratory infections late in the first decade of life. Patients may also have increased viral susceptibility to varicella zoster virus (VZV) or herpes simplex virus (HSV). Laboratory studies show impaired antibody response to vaccination, low levels of circulating memory B cells, and almost undetectable antibodies. There is also evidence of secondary T-cell dysfunction. The disorder may result from disturbed actin cytoskeleton dynamics causing impaired lymphocyte migration (summary by Bouafia et al., 2019).|OMIM|N|
C5193110|Khan-Khan-Katsanis syndrome (3KS) is an autosomal recessive neurodevelopmental disorder with variable involvement of the ocular, renal, skeletal, and sometimes cardiac systems. Affected individuals present at birth with multiple congenital anomalies, defects in urogenital and limb morphogenesis, poor overall growth with microcephaly, and global developmental delay (summary by Khan et al., 2019).|OMIM|N|
C5193111|Platelet-type bleeding disorder-22 (BDPLT22) is an autosomal recessive bleeding disorder resulting from impaired platelet aggregation due to intracellular signaling defects. Patients present in the first decade with spontaneous subcutaneous bleeding and excessive bleeding after minor injuries. Platelet counts are usually normal, although platelets show abnormal morphology (summary by Berrou et al., 2018).|OMIM|N|
C5193112|Pheochromocytoma/paraganglioma syndrome-6 (PPGL6) is an autosomal dominant adult-onset tumor predisposition syndrome in which affected individuals develop neuroendocrine neoplasms, known as paragangliomas. Many tumors arise in the abdomen, although some may arise in other regions, including the head and neck. Some of the tumors may secrete biologically active normetanephrines, resulting in secondary hypertension. Tumors may be benign or malignant, and some may metastasize (summary by Buffet et al., 2018).
For a discussion of genetic heterogeneity of pheochromocytoma/paraganglioma syndrome, see PPGL1 (168000).|OMIM|N|
C5193113|Developmental and epileptic encephalopathy-76 (DEE76) is an autosomal recessive neurodevelopmental disorder characterized by early-onset, usually refractory, seizures, severely delayed global development, hypotonia, peripheral spasticity, and abnormalities on brain imaging, mainly cerebral atrophy and delayed myelination. Some patients may have additional features, such as scoliosis or microcephaly. The disorder may result in death in childhood (summary by Bell et al., 2019).
For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350.|OMIM|N|
C5193114|Contractures, pterygia, and spondylocarpotarsal fusion syndrome-1B (CPSFS1B) is characterized by contractures of proximal and distal joints, pterygia involving the neck, elbows, fingers, and/or knees, and variable vertebral, carpal, and tarsal fusions. Inter- and intrafamilial variability has been observed (Cameron-Christie et al., 2018).
An autosomal dominant form of contractures, pterygia, and spondylocarpotarsal fusion syndrome (CPSFS1A; 178110) is caused by heterozygous mutation in the MYH3 gene.|OMIM|N|
C5193115|Intellectual developmental disorder with severe speech and ambulation defects (IDDSSAD) is an autosomal dominant neurodevelopmental disorder with onset of features in infancy or early childhood. Affected individuals have global developmental delay with impaired intellectual development and absent speech, and most cannot walk independently. Common dysmorphic features include prominent forehead and wide mouth (summary by Bell et al., 2019).|OMIM|N|
C5193116|Pheochromocytoma/paraganglioma syndrome-7 (PPGL7) is an autosomal dominant tumor predisposition syndrome in which affected individuals develop adult-onset neuroendocrine neoplasms, known as paragangliomas. Most tumors arise in the abdomen, secrete normetanephrine, and follow a benign disease course (summary by Remacha et al., 2019).
For a discussion of genetic heterogeneity of pheochromocytoma/paraganglioma syndrome, see PPGL1 (168000).|OMIM|N|
C5193117|Brain abnormalities, neurodegeneration, and dysosteosclerosis (BANDDOS) is an autosomal recessive disorder characterized by brain abnormalities, progressive neurologic deterioration, and sclerotic bone dysplasia similar to dysosteosclerosis (DOS). The age at onset is highly variable: some patients may present in infancy with hydrocephalus, global developmental delay, and hypotonia, whereas others may have onset of symptoms in the late teens or early twenties after normal development. Neurologic features include loss of previous motor and language skills, cognitive impairment, spasticity, and focal seizures. Brain imaging shows periventricular white matter abnormalities and calcifications, large cisterna magna or Dandy-Walker malformation, and sometimes agenesis of the corpus callosum (summary by Guo et al., 2019).|OMIM|N|
C5193118|Cerebellar, ocular, craniofacial, and genital syndrome (COFG) is characterized by moderate to severe developmental delay and impaired intellectual development, severe cerebellar hypoplasia, a noticeably short forehead, medially sparse/flared and laterally extended eyebrows, corneal dystrophy, underdeveloped labioscrotal folds, and tufts of hair extruding from the lactiferous ducts with breast and nipple underdevelopment. Additional features such as pontine involvement, retinal degeneration, anteverted nares, and low-set ears have been variably observed (Rad et al., 2019).|OMIM|N|
C5193119|Neurodevelopmental disorder with seizures and speech and walking impairment (NEDSSWI) is an autosomal recessive disorder with onset in infancy. Patients show global developmental delay, particularly of speech acquisition, as well as walking difficulties due to hypotonia, hypertonia, spasticity, or poor coordination. Other features include seizures, mild dysmorphic features, and variable short stature. The pregnancies tend to be complicated by hyper- or hypotension (summary by Ganapathi et al., 2019).|OMIM|N|
C5193120|Generalized epilepsy with febrile seizures plus-10 (GEFSP10) is a seizure disorder characterized by variable types of seizures, including absence, tonic-clonic, febrile, focal, and eyelid myoclonia. Onset tends to be in the first months or years of life, and the seizure type may evolve or even eventually remit. Some patients may have impaired intellectual development or autistic features. Brain imaging is usually normal (summary by Marini et al., 2018).
For a general phenotypic description and a discussion of genetic heterogeneity of GEFS+, see 604233.|OMIM|N|
C5193121|Myogenic-type arthrogryposis multiplex congenita-3 (AMC3) is an autosomal recessive disorder characterized by decreased fetal movements, hypotonia, variable skeletal defects, including clubfoot and scoliosis, and delayed motor milestones with difficulty walking (summary by Baumann et al., 2017).|OMIM|N|
C5193124|Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities (HIDEA) is an autosomal recessive neurodevelopmental syndrome characterized by global developmental delay, poor or absent speech, hypotonia, variable ocular movement and visual abnormalities, and respiratory difficulties, including hypoventilation, and sleep apnea. Patients may have significant breathing problems during respiratory infections that may lead to early death (summary by Rahikkala et al., 2019).|OMIM|N|
C5193125|ATN1-related neurodevelopmental disorder (ATN1-NDD) is characterized by developmental delay / intellectual disability. Other neurologic findings can include infantile hypotonia, brain malformations, epilepsy, cortical visual impairment, and hearing loss. Feeding difficulties, present in some individuals, may require gastrostomy support when severe; similarly, respiratory issues, present in some, may require respiratory support after the neonatal period. Distinctive facial features and hand and foot differences are common. Other variable findings can include cardiac malformations and congenital anomalies of the kidney and urinary tract (CAKUT). To date, 18 individuals with ATN1-NDD have been identified.|GeneReviews|N|
C5193126|Immunodeficiency-63 with lymphoproliferation and autoimmunity (IMD63) is an autosomal recessive disorder characterized by immune dysregulation. Affected individuals present in infancy with features of both abnormal activation of certain immune signaling pathways, resulting in lymphoid proliferation, dermatitis, enteropathy, and hypergammaglobulinemia, as well as features of immunodeficiency, such as recurrent infections and increased susceptibility to viral infections, especially CMV. Laboratory studies show increased NK cells that show impaired differentiation, as well as abnormal T cell populations or responses. Some patients may die in childhood; hematopoietic bone marrow transplantation is curative (summary by Zhang et al., 2019).|OMIM|N|
C5193127|Aortic valve disease-3 (AOVD3) is characterized by aortic stenosis and/or bicuspid aortic valve (BAV), associated in some patients with aneurysm of the aortic root and/or ascending aorta. Atrial septal defect (ASD) has also been observed in some individuals (Gould et al., 2019).
For a general phenotypic description and a discussion of genetic heterogeneity of aortic valve disease, see AOVD1 (109730).|OMIM|N|
C5193128|Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements (NEDNEH) is an autosomal recessive severe neurologic disorder characterized by delayed psychomotor development with inability to walk or speak, early-onset refractory seizures, and nonepileptic hyperkinetic movement disorders, including myoclonus dystonia and dyskinesias. Patients require tube feeding and may die of respiratory failure in childhood or in the second decade (summary by Gorman et al., 2019).|OMIM|N|
C5193129|Postaxial polydactyly type A10 (PAPA10) is characterized by one or more postaxial digits of the hands and/or feet. A rudimentary digit (PAP type B) may also be present. Intrafamilial variability has been observed (Ullah et al., 2019).
For a discussion of genetic heterogeneity of postaxial polydactyly, see 174200.|OMIM|N|
C5193130|Noonan syndrome (NS) is characterized by characteristic facies, short stature, congenital heart defect, and developmental delay of variable degree. Other findings can include broad or webbed neck, unusual chest shape with superior pectus carinatum and inferior pectus excavatum, cryptorchidism, varied coagulation defects, lymphatic dysplasias, and ocular abnormalities. Although birth length is usually normal, final adult height approaches the lower limit of normal. Congenital heart disease occurs in 50%-80% of individuals. Pulmonary valve stenosis, often with dysplasia, is the most common heart defect and is found in 20%-50% of individuals. Hypertrophic cardiomyopathy, found in 20%-30% of individuals, may be present at birth or develop in infancy or childhood. Other structural defects include atrial and ventricular septal defects, branch pulmonary artery stenosis, and tetralogy of Fallot. Up to one fourth of affected individuals have mild intellectual disability, and language impairments in general are more common in NS than in the general population.|GeneReviews|N|
C5193131|Holoprosencephaly-12 with or without pancreatic agenesis (HPE12) is a developmental disorder characterized by abnormal separation of the embryonic forebrain (HPE) resulting in dysmorphic facial features and often, but not always, impaired neurologic development. Most patients with this form of HPE also have congenital absence of the pancreas, resulting in early-onset type 1 diabetes mellitus and requiring pancreatic enzyme replacement. Other features may include hearing loss and absence of the gallbladder (summary by De Franco et al., 2019 and Kruszka et al., 2019).
For a phenotypic description and a discussion of genetic heterogeneity of holoprosencephaly, see HPE1 (236100).|OMIM|N|
C5193132|Cerebellar atrophy with seizures and variable developmental delay (CASVDD) is an autosomal recessive neurologic disorder characterized by cerebellar ataxia associated with atrophy of the cerebellar vermis on brain imaging. Most patients also have onset of severe refractory seizures in the first year of life and show global developmental delay, compatible with epileptic encephalopathy (summary by Edvardson et al., 2013). However, at least 1 patient with normal cognitive development and only 1 febrile seizure has been reported (Valence et al., 2019), suggesting significant clinical variability of this disorder.|OMIM|N|
C5193134|Stolerman neurodevelopmental syndrome (NEDSST) is a highly variable disorder characterized by developmental delay, often with motor and speech delay, mildly impaired intellectual development (in most patients), learning difficulties, and behavioral abnormalities, including autism spectrum disorder. Psychosis is observed in a small percentage of individuals over the age of 12 years. Most individuals have nonspecific and mild dysmorphic facial features without a common gestalt. A subset of patients may have involvement of other organ systems, including gastrointestinal with poor early feeding or gastroesophageal reflux, distal skeletal anomalies, and congenital heart defects. Most mutations occur de novo, but rare autosomal dominant inheritance with incomplete penetrance has been observed (Stolerman et al., 2019; Rots et al., 2023).|OMIM|N|
C5193137|Hereditary motor and sensory neuropathy type VIC with optic atrophy (HMSN6C) is an autosomal recessive axonal sensorimotor peripheral neuropathy characterized by progressive distal muscle weakness and atrophy primarily affecting the lower limbs. Onset of neuropathy is in the first decade, manifest by difficulty walking and running and followed by similar involvement of the upper limbs and hands. The disorder is associated with distal sensory impairment, particularly of position and vibration sense, as well as areflexia; individuals usually have pes cavus, hammertoes, and atrophy of the intrinsic hand muscles. In addition, progressive optic atrophy and visual impairment occur during adulthood. Treatment with pyridoxal 5-prime phosphate supplementation (vitamin B6) may result in amelioration of symptoms and slow progression of the disease (summary by Chelban et al., 2019).
For a general phenotypic description and a discussion of genetic heterogeneity of HMSN6, see HMSN6A (601152).|OMIM|N|
C5193138|O'Donnell-Luria-Rodan syndrome (ODLURO) is a neurodevelopmental disorder characterized by global developmental delay, speech delay, variably delayed intellectual development, and subtle dysmorphic features. Some patients may have autism, seizures, hypotonia, and/or feeding difficulties (summary by O'Donnell-Luria et al., 2019).|OMIM|N|
C5193139|Leber congenital amaurosis-19 (LCA19) is characterized by reduced vision in early childhood and severely reduced responses of both rods and cones on electroretinography (Yi et al., 2019).
For a general description and a discussion of genetic heterogeneity of LCA, see 204000.|OMIM|N|
C5193141|Hyper-IgE syndrome-4B with recurrent infections (HIES4B) is an autosomal recessive immunologic disorder characterized by early childhood onset of recurrent infections and skeletal abnormalities, including craniosynostosis and scoliosis. Patients are mainly susceptible to bacterial infections that affect the respiratory tract, skin, and eye. Immunologic workup shows increased serum IgE, intermittent eosinophilia, and impaired IL6 (147620) and IL27 (608273) downstream signaling that affects the development and function of certain B- and T-cell populations, as well as the acute-phase response; IL11 (147681) signaling in fibroblasts is also affected (summary by Shahin et al., 2019).
For a discussion of genetic heterogeneity of hyper-IgE syndrome, see HIES1 (147060).|OMIM|N|
C5193143|Autosomal recessive Robinow syndrome-2 (RRS2) is a skeletal dysplasia characterized by postnatal mesomelic short stature and relative macrocephaly as well as dysmorphic facial features, including frontal bossing, hypertelorism, prominent eyes, wide short nose with anteverted nares, and triangular mouth. Variable other congenital anomalies may be present, including omphalocele, ventral hernia, and cardiac anomalies (White et al., 2018).
For a discussion of genetic heterogeneity of autosomal recessive Robinow syndrome, see RRS1 (268310).|OMIM|N|
C5193144|EKVP6 is characterized by erythematous hyperkeratotic plaques that develop within the first year of life, beginning on distal extremities and progressing to involve the face, wrists, and ankles, with sparing of volar surfaces. Intrafamilial variation in severity has been observed, and most affected individuals experience slowly progressive spontaneous remission after puberty (Wang et al., 2019).
For a general phenotypic description and discussion of genetic heterogeneity of EKVP, see EKVP1 (133200).|OMIM|N|
C5193145|Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings.
Ectodermal dysplasia-15 (ECTD15) is characterized by hypotrichosis that develops in early childhood and absence of sweating except with extreme exercise. Skin is dry from birth and eczematous lesions may develop in adulthood. Other features include blepharitis and photophobia (van den Bogaard et al., 2019).|OMIM|N|
C5193146|Shukla-Vernon syndrome (SHUVER) is an X-linked recessive neurodevelopmental disorder characterized by global developmental delay, variably impaired intellectual development, and behavioral abnormalities, including autism spectrum disorder and ADHD. Dysmorphic features are common and may include tall forehead, downslanting palpebral fissures, and tapering fingers. Some patients may have seizures and/or cerebellar atrophy on brain imaging. Carrier mothers may have mild manifestations, including learning disabilities (summary by Shukla et al., 2019).|OMIM|N|
C5193147|Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic features (IKSHD) is characterized by epidermal hyperproliferation and increased keratinization, resulting in ichthyosis; hypomyelination of central white matter, causing spastic paraplegia and central nystagmus; and optic atrophy, resulting in reduction of peripheral vision and visual acuity (Mueller et al., 2019). In addition, patients exhibit mild facial dysmorphism (Kutkowska-Kazmierczak et al., 2018).|OMIM|N|
C5193223|Episodic mitochondrial myopathy with or without optic atrophy and reversible leukoencephalopathy (MEOAL) is an autosomal recessive neuromuscular disorder characterized mainly by childhood onset of progressive muscle weakness and exercise intolerance. Patients have episodic exacerbation, which may be associated with increased serum creatine kinase or lactic acid. Additional more variable features may include optic atrophy, reversible leukoencephalopathy, and later onset of a sensorimotor polyneuropathy. The disorder results from impaired formation of Fe-S clusters, which are essential cofactors for proper mitochondrial function (summary by Gurgel-Giannetti et al., 2018)|OMIM|N|
C5194070|A fleshy, tube-like structure usually located in the midline of the face or just to one side of the midline.|HPO|N|
C5194130|Decreased sweating on the palms and soles.|HPO|N|
C5194182|A kind of anemia in which the volume of the red blood cells is reduced.|HPO|N|
C5194606|The presence of dysplastic regions in metaphyseal regions.|HPO|N|
C5194758|Congenital absence of the left half of the diaphragm.|HPO|N|
C5194784|Amelioration of anemia upon treatment with a steroid medication.|HPO|N|
C5195051|Abnormal tortuous (i.e., twisted) form of the vertebral arteries.|HPO|N|
C5195568|Partial agenesis of the pancreas is characterized by the congenital absence of a critical mass of pancreatic tissue.|ORDO|N|
C5197664|A systemic form of angiofollicular hyperplasia associated with HHV8 infection.|NCI|N|
C5197682|Diseases for which vaccines exist that can confer partial or complete protection. (World Health Organization vaccine-safety-training.org)|MSH|N|
C5197703|Tumor nodules located in the mesorectal/pericolic fatty tissues of the primary tumor.|MSH|N|
C5197707|Clinical distress among descendants of survivors of mass trauma, as if they had suffered through the same extreme historic circumstances. Symptoms may persist through generations.|MSH|N|
C5197719|A group of anatomical variations in which the COMMON BILE DUCT and MAIN PANCREATIC DUCT are joined outside the duodenal wall often with abnormally long common channel rather than at the SPHINCTER OF ODDI.|MSH|N|
C5197720|A chronic urticaria that is characterized by a history of a consistent stimulus that initiates lesions, which are typically short-lived and fleeting, lasting a few minutes up to 2 hours.|MONDO|N|
C5197730|Underdevelopment of the superior aspect of the OPTIC NERVE HEAD.|MSH|N|
C5197752|Health disorders associated with low caloric intake of individuals involved in high-activity SPORTS.|MSH|N|
C5197769|Eating disorder occurring typically in patients with DIABETES MELLITUS, TYPE 1 who restrict INSULIN intake in order to lose weight.|MSH|N|
C5197778|Failure to identify or diagnose a medical condition at the time a health professional is acquainted with the symptoms.|MSH|N|
C5197785|Type 2 autoimmune pancreatitis is a form of autoimmune pancreatitis (see this term) affecting both sexes and having a younger age of onset (<60 years) and presenting with abdominal pain, steatorrhea and obstructive jaundice.|ORDO|N|
C5197787|A condition associated with the use of certain medications (e.g., AMINOGLYCOSIDES and CISPLATIN) that cause functional impairments of the INNER EAR characterized by transient or permanent dysequilibrium, HEARING LOSS, and/or TINNITUS.|MSH|N|
C5197792|Condition in which individuals desire the amputation of one or more healthy limbs or who desire a paralysis.|MSH|N|
C5197806|Genetic disorders due to mutations in genes involved in COMPLEMENT SYSTEM PROTEINS. They are often classified into distinct pathway of complement activation where causative mutations are found (e.g., classical pathway, lectin pathway, alternative pathway, and terminal complement pathway).|MSH|N|
C5197846|A diet consisting mostly or entirely of foods derived from plants.|NCI|N|
C5197877|Disorders related to or resulting from abuse or misuse of NARCOTICS.|MSH|N|
C5197884|Malformations of left CORONARY ARTERY where it is connected to the PULMONARY ARTERY instead of the AORTA.|MSH|N|
C5197901|Rare and common diseases lacking a diagnosis.|MSH|N|
C5200540|The more common type of Robinow syndrome characterised by mild to moderate limb shortening and abnormalities of the head, face and external genitalia.|SNOMEDCT_US|N|
C5200693|Death of a bride in an arranged marriage for the failure of her family to meet dowry demands.|MSH|N|
C5200735|A rare acquired retinal disorder with characteristics of transient or permanent visual impairment accompanied by the presence of reddish-brown, wedge-shaped lesions in the macula, the apices of which tend to point towards the fovea. The lesions usually appear in a petaloid or tear-drop configuration. Patients tend to be young, Caucasian and female.|SNOMEDCT_US|N|
C5200821|Concomitant PANCREATICOBILIARY MALJUNCTION and local dilatation of the extrahepatic bile duct.|MSH|N|
C5200925|A response indicating that a person''s walking is normal postoperatively, with no alteration to gait.|NCI|N|
C5200931|In a review of various classification schemes for sleep disorders, Thorpy (1990) listed 'short sleeper' under the broad category of 'disorders of initiating and maintaining sleep' (DIMS); however, the short sleeper phenotype or trait is not considered a sleep disorder. Individuals with this trait require less sleep in any 24-hour period than is typical for their age group.
Genetic Heterogeneity of Familial Natural Short Sleep
See also FNSS2 (618591), caused by mutation in the ADRB1 gene (109630) on chromosome 10q24.
See also familial advanced sleep-phase syndrome (FASPS; 604348), which is a distinct disorder characterized by very early sleep onset and offset.|OMIM|N|
C5200933|GAN-related neurodegeneration comprises a phenotypic continuum ranging from severe (sometimes called classic giant axonal neuropathy) to milder pure early-onset peripheral motor and sensory neuropathies. The classic giant axonal neuropathy phenotype typically manifests as an infantile-onset neurodegenerative disorder, starting as a severe peripheral motor and sensory neuropathy and evolving into central nervous system impairment (intellectual disability, seizures, cerebellar signs, and pyramidal tract signs). Most affected individuals become wheelchair dependent in the second decade of life and eventually bedridden with severe polyneuropathy, ataxia, and dementia. Death usually occurs in the third decade. At the milder end of the spectrum are predominantly motor and sensory neuropathies (with little to no CNS involvement) that overlap with the axonal form of Charcot-Marie-Tooth neuropathies.|GeneReviews|N|
C5200934|MYH9-related disease (MYH9-RD) is characterized in all affected individuals by hematologic features present from birth consisting of platelet macrocytosis (i.e., >40% of platelets larger than 3.9 µm in diameter), thrombocytopenia (platelet count <150 x 109/L), and aggregates of the MYH9 protein in the cytoplasm of neutrophil granulocytes. Most affected individuals develop one or more additional extrahematologic manifestations of the disease over their lifetime, including sensorineural hearing loss, renal disease (manifesting initially as glomerular nephropathy), presenile cataracts, and/or elevation of liver enzymes.|GeneReviews|N|
C5200982|High grade prostatic intraepithelial neoplasia characterized by the presence of severe architectural and cytologic abnormalities.|NCI|N|
C5200989|A clinically defined disease states with a largely unknown morphological background. Acute mast cell activation (MCA) is commonly seen in allergic reactions and often leads to the clinical signs and symptoms of anaphylaxis. Severe or even life-threatening MCA may occur when the burden of mast cells is high and/or these cells are in an hyperactivated state. Mastocytosis may be associated with mast cell activation syndrome (MCAS).|MONDO|N|
C5200994|The presence of abnormally increased levels of prolactin in the blood. Prolactin is a peptide hormone produced by the anterior pituitary gland that plays a role in breast development and lactation during pregnancy.|HPO|N|
C5201040|A rare chromosomal anomaly syndrome with a highly variable phenotype and principle characteristics of postnatal growth retardation, variable degrees of developmental delay and intellectual disability, microcephaly and facial dysmorphism (including epicanthal folds, low-set, cupped ears, prominent nose with flat nasal bridge, high arched palate, micrognathia). Skeletal abnormalities (for example pectus excavatum, clinodactyly), congenital heart malformations, cryptorchidism, cafe-au-lait spots and epilepsy have also been reported.|SNOMEDCT_US|N|
C5201048|Complete color blindness, a complete inability to distinguish colors. Affected persons cannot perceive colors, but only shades of gray.|HPO|N|
C5201145|Glycosylphosphatidylinositol is a glycolipid that anchors more than 150 proteins to the cell surface, and these proteins, termed GPI-anchored proteins (GPI-APs), perform a variety of functions as enzymes, adhesion molecules, complement regulators, and coreceptors in signal transduction pathways. Reduced surface levels of GPI-APs or abnormal GPI-AP structure can therefore result in variable manifestations. Glycosylphosphatidylinositol biosynthesis defect-1 (GPIBD1) is characterized predominantly by portal hypertension due to portal vein thrombosis. Most patients have absence seizures, cerebral thrombosis, and macrocephaly. Some patients have mildly to moderately impaired intellectual development (summary by Makrythanasis et al., 2016; Pode-Shakked et al., 2019).
Genetic Heterogeneity of Glycosylphosphatidylinositol Biosynthesis Defects
Also see GPIBD2 (239300), caused by mutation in the PIGV gene (610274); GPIBD3 (614080), caused by mutation in the PIGN gene (606097); GPIBD4 (300868), caused by mutation in the PIGA gene (311770); GPIBD5 (280000), caused by mutation in the PIGL gene (605947); GPIBD6 (614749), caused by mutation in the PIGO gene (614730); GPIBD7 (615398), caused by mutation in the PIGT gene (610272); GPIBD8 (614207), caused by mutation in the PGAP2 gene (615187); GPIBD9 (615802), caused by mutation in the PGAP1 gene (611655); GPIBD10 (615716), caused by mutation in the PGAP3 gene (611801); GPIBD11 (616025), caused by mutation in the PIGW gene (610275); GPIBD12 (616809), caused by mutation in the PIGY gene (610662); GPIBD13 (616917), caused by mutation in the PIGG gene (616918); GPIBD14 (617599), caused by mutation in the PIGP gene (605938); GPIBD15 (617810), caused by mutation in the GPAA1 gene (603048); GPIBD16 (617816), caused by mutation in the PIGC gene (601730); GPIBD17 (618010), caused by mutation in the PIGH gene (600154); GPIBD18 (618143), caused by mutation in the PIGS gene (610271); GPIBD19 (618548), caused by mutation in the PIGQ gene (605754); GPIBD20 (618580), caused by mutation in the PIGB gene (604122); GPIBD21 (618590), caused by mutation in the PIGU gene (608528); GPIBD22 (618879), caused by mutation in the PIGK gene (605087); GPIBD23 (617020), caused by mutation in the ARV1 gene (611647); GPIBD24 (619356), caused by mutation in the PIGF gene (600153); and GPIBD25 (619985), caused by mutation in the C18ORF32 gene (619979).|OMIM|N|
C5201146|Blau syndrome is characterized by the triad of granulomatous arthritis, uveitis, and dermatitis. First described in 1985, it was considered to be distinct from sarcoidosis due to the early age of onset and autosomal dominant inheritance pattern. Published reports of sporadic cases of children with 'early-onset sarcoidosis' (EOS) with granulomatous involvement of different organs, primarily affecting joints, eyes, and skin, were suspected to represent the same disorder because the patients' characteristics were nearly identical. Subsequently, identical NOD2 mutations were identified in patients with Blau syndrome as well as in patients diagnosed with EOS, confirming earlier suspicions that they represented the same disease (summary by Borzutzky et al., 2010). Unlike older children diagnosed with sarcoidosis, these patients have no apparent pulmonary involvement; however, the disease is progressive and may result in severe complications such as blindness and/or joint destruction (Shetty and Gedalia, 1998).|OMIM|N|
C5201148|Major abdominal surgery, Stroke, Severe pneumonia, hematologic malignancy|LNC|N|
C5202574|A response indicating that something took a moderate amount of effort.|NCI|N|
C5202576|An indication that a patient had cancer diagnosed using biochemical markers specific to the disease.|NCI|N|
C5202584|A finding of left ventricular hypertrophy based on the analysis of diagnostic metrics that may indicate a higher risk for cardiovascular events.|NCI|N|
C5202609|At least 25 percent but less than 50 percent reduction of serum M-protein and reduction in 24-hour urine M-protein by 50-89 percent. In addition to the above listed criteria, if present at baseline, at least a 50 percent reduction in the size (sum of products of diameters) of soft tissue plasmacytomas is also required.|NCI|N|
C5202613|An autosomal dominant condition caused by mutation(s) in the POLE and/or POLD1 genes, encoding DNA polymerase epsilon catalytic subunit A and DNA polymerase delta catalytic subunit, respectively. It is characterized by colorectal polyposis and a predisposition to colorectal cancer. Mutation(s) in POLE and/or POLD1 genes have been associated with an increased risk of endometrial cancer, breast and brain tumors, and multi-tumor phenotypes.|NCI|N|
C5202620|Greater than 50 percent decrease in quantitative measurements of blood tumor burden in baseline from those with high tumor burden at baseline (B2).|NCI|N|
C5202621|50 percent or greater regression in any splenic or liver nodules, or in measurable disease (sum of products of diameter) in any organs abnormal at baseline; no increase in size of liver or spleen and no new sites of involvement.|NCI|N|
C5202622|Cumulative reduction of 50 percent or more of the sum of products of diameter of each abnormal lymph node at baseline and no new lymph node greater than 1.5 cm in the diameter of the long axis or greater than 1.0 cm in the diameter of the short axis if the long axis is 1-1.5 cm diameter.|NCI|N|
C5202623|50-99 percent clearance of skin disease from baseline without new tumors (T3) in patients with T1, T2, or T4 only skin disease.|NCI|N|
C5202624|Greater than or equal to 30 percent decrease in the sum of longest diameters of target lesions but not a complete response.|NCI|N|
C5202633|Less than 10 percent of the tissue surface area is occupied by immune cell infiltration.|NCI|N|
C5202644|A clinical finding about one or more characteristics of a specific cancer, following the rules of the TNM classification system as they pertain to evaluating regional lymph nodes.|NCI|N|
C5202689|An indication that HIV antibodies have developed and become detectable in the serum.|NCI|N|
C5202711|Greater than or equal to 10 percent decrease in the sum of longest diameters of target lesions but not a partial response.|NCI|N|
C5202721|A subjective response indicating that something is true or present more than half of the days.|NCI|N|
C5202762|A risk group associated with a total score of 0 or 1 on the International Prognostic Index indicating that an individual has a 5 year survival prognosis of 73%.|NCI|N|
C5202763|A response indicating that an individual has an occasional accident related to fecal incontinence.|NCI|N|
C5202764|A response indicating that an individual has an occasional accident related to urinary incontinence.|NCI|N|
C5202776|An electrocardiographic finding of a supraventricular QRS complex followed by a premature supraventricular complex for 3 or more consecutive cycles; a regularly irregular rhythm of normal and abnormal QRS complexes in a 1-1 ratio. (CDISC)|NCI|N|
C5202779|A subjective response indicating that something is true or present nearly every day.|NCI|N|
C5202796|A subjective score of 1 on a symptom''s intensity and distress scale that ranges from 1: Slight to 5: Severe.|NCI|N|
C5202806|Immunotactoid glomerulopathy (ITG) is a very rare condition characterized by glomerular accumulation of microtubules in the mesangium and the glomerular basement membrane, that mainly presents with proteinuria, micro-hematuria, nephrotic syndrome, renal insufficiency and hematologic malignancy. ITG and non-amyloid fibrillary glomerulopathy (non-amyloid FGP, see this term) are often grouped together as pathogenetically related diseases.|ORDO|N|
C5202818|A category that includes benign neoplasms and neoplasms with uncertain malignant potential. The latter are characterized by clinicopathological features that are not benign, including some degree of mild or mild/moderate atypia/dysplasia, but lack overt malignant morphologic characteristics and there is no evidence of metastasis at the time of diagnosis.|NCI|N|
C5202819|A response indicating that something took no effort.|NCI|N|
C5202835|A total IPSS-R score of 3.5 to 4.5, indicating intermediate risk.|NCI|N|
C5202838|A thin, uniform cyst wall composed of well differentiated, flattened squamous epithelium undergoing orderly maturation and filled with large amounts of keratin.|NCI|N|
C5202851|The total score received in a Motreal Congitive Assessment test.|NCI|N|
C5202860|The method of data entry is unknown.|NCI|N|
C5202862|A clinical finding about one or more characteristics of a specific cancer, following the rules of the TNM classification system as they pertain to evaluating distant metastases.|NCI|N|
C5202885|An indication that the response was other than the presented options.|NCI|N|
C5202891|Regression of measurable disease with complete response in skin and nodes, blood and viscera categories not having complete response or noninvolvement and where no category has progressive disease. Partial response is also assigned when there is partial response in skin and no nodes, blood and viscera category has a progressive disease and if any category involved at baseline at least one has a complete or partial response.|NCI|N|
C5202892|At least 50 percent reduction of serum M-protein plus reduction in 24 hour urinary M-protein by at least 90 percent or to less than 200 mg per 24 hour. If the serum and urine M-protein are unmeasurable, at least a 50 percent decrease in the difference between involved and uninvolved free light chain levels is required in place of the M-protein criteria. If serum and urine M-protein are unmeasurable, and serum-free light assay is also unmeasurable, at least a 50 percent reduction in plasma cells is required in place of M-protein, provided baseline bone marrow plasma-cell percentage was at least 30 percent. In addition to these criteria, if present at baseline, at least 50 percent reduction in the size (sum of products of diameters) of soft tissue plasmacytomas is also required.|NCI|N|
C5202894|A change in the nucleotide sequence of the DICER1 gene that is associated with increased risk of disease.|NCI|N|
C5202905|No or minimal tumor response.|NCI|N|
C5202915|Serum and urine M-protein detectable by immunofixation but not on electrophoresis or at least 90 percent reduction in serum M-protein plus urine M-protein level less than 100 mg per 24 hours.|NCI|N|
C5202916|A total IPSS-R score of 6.5 or higher, indicating very high risk.|NCI|N|
C5202917|A total IPSS-R score of 1.5 or lower, indicating very low risk.|NCI|N|
C5202919|No traces of residual disease; lowest chance of disease recurrence.|NCI|N|
C5202920|Progressive disease in any skin, nodes, blood, or viscera category.|NCI|N|
C5202921|Greater than 20 percent increase in the sum of longest diameters of target lesions; For small lymph nodes measuring less than15''mm post therapy, a minimum absolute increase of 5''mm and the long diameter should exceed 15''mm; Appearance of a new lesion.|NCI|N|
C5202923|50 percent or greater increase in the sum of products of diameter from baseline of lymph nodes; or any new node greater than 1.5 cm in the long axis or greater than 1cm in the short axis if 1-1.5 cm in the long axis that is proven to be N3 histologically; or loss of response with greater than 50 percent increase from nadir in sum of products of diameter of lymph nodes in those with partial response (whichever occurs first).|NCI|N|
C5202924|25 percent or greater increase in skin disease from baseline; or new tumors (T3) in patients with T1, T2, or T4 only skin disease; or loss of response: in those with complete or partial response, increase of skin score of greater than the sum of nadir plus 50 percent baseline score.|NCI|N|
C5202925|Greater than 50 percent increase in size by sum of products of diameter (SPD) of any organs involved at baseline; or new organ involvement or loss of response: greater than 50 percent increase from nadir in the size (SPD) of any previous organ involvement in those with partial response (whichever occurs first).|NCI|N|
C5202926|A change from B0 to B2; or greater than 50 percent increase from baseline and at least 5,000 neoplastic cells per microliter; or loss of response: in those with partial response who were originally B2 at baseline, greater than 50 percent increase from nadir and at least 5,000 neoplastic cells per microliter.|NCI|N|
C5202936|A total IPSS-R score of 5 to 6, indicating high risk.|NCI|N|
C5202937|A risk group associated with a total score of 4 or 5 on the International Prognostic Index indicating that an individual has a 5 year survival prognosis of 32%.|NCI|N|
C5202940|Complete response, plus normal free light chain ratio and absence of clonal cells in bone marrow biopsy by immune-histochemistry (kappa/lambda ratio less than or equal to 4:1 or greater than or equal to 1:2 for kappa and lambda patients, respectively, after counting at least 100 plasma cells).|NCI|N|
C5202951|A subjective response of strong agreement or ability.|NCI|N|
C5202952|An indication that something describes the individual''s situation very well.|NCI|N|
C5202953|An indication that someone can do something quite well.|NCI|N|
C5202985|A subjective score of 4 on a symptom''s intensity and distress scale that ranges from 1: Slight to 5: Severe.|NCI|N|
C5202991|Any one or more of the following criteria: increase of 25 percent from lowest confirmed response value in one or more of the following criteria: serum M-protein (absolute increase must be at least 0.5 g/dL); serum M-protein increase at least 1 g/dL, if the lowest M component was at least 5 g/dL; urine M-protein (absolute increase must be at least 200 mg/24 h); in patients without measurable serum and urine M-protein levels, the difference between involved and uninvolved free light chain levels (absolute increase must be greater than 10 mg/dL); in patients without measurable serum and urine M-protein levels and without measurable involved free light chain levels, bone marrow plasma-cell percentage irrespective of baseline status (absolute increase must be at least 10 percent); appearance of a new lesion(s), at least 50 percent increase from nadir in sum of products of diameters of greater than 1 lesion, or at least 50 percent increase in the longest diameter of a previous lesion greater than 1 cm in short axis; at least 50 percent increase in circulating plasma cells (minimum of 200 cells per uL) if this is the only measure of disease.|NCI|N|
C5202993|A numeric value that estimates the risk of development of a specified neoplastic disease that is based on weighted regression analysis of disease-specific gene variants at multiple genetic loci.|NCI|N|
C5202996|A response indicating that something took quite a lot of effort.|NCI|N|
C5203000|The reemergence of oligodendroglioma after a period of remission.|NCI|N|
C5203015|A partial or complete breakage of the epiphysis.|HPO|N|
C5203022|A score of B0 by repeat bone marrow biopsy with no residual disease.|NCI|N|
C5203023|Liver or spleen or any organ considered involved at baseline should not be enlarged on physical exam and should be considered normal by imaging; no nodules should be present on imaging of liver or spleen; any post treatment mass must be determined by biopsy to be negative for lymphoma.|NCI|N|
C5203024|All lymph nodes are now 1.5 cm or less in greatest transverse (long axis) diameter by method used to assess lymph nodes at baseline or biopsy negative for lymphoma; in addition, lymph nodes that were N3 classification and 1.5 cm or less in their long axis and more than 1 cm in their short axis at baseline, must now be 1 cm or less in their short axis or biopsy negative for lymphoma.|NCI|N|
C5203025|Complete disappearance of all target lesions and all nodes with long axis less than10mm; greater than or equal to 30 percent decrease in the sum of longest diameters of target lesions (partial response) with normalization of FDG-PE.|NCI|N|
C5203028|A clinical finding about one or more characteristics of a specific cancer, following the rules of the TNM classification system as they pertain to evaluating primary tumor.|NCI|N|
C5203033|Complete disappearance of all clinical evidence of disease with skin, nodes, blood and viscera categories having complete response or noninvolvement.|NCI|N|
C5203034|Negative immunofixation on the serum and urine and disappearance of any soft tissue plasmacytomas and less than 5 percent plasma cells in bone marrow aspirates.|NCI|N|
C5203035|100 percent clearance of skin lesions.|NCI|N|
C5203068|Any disease recurrence in those with complete response.|NCI|N|
C5203069|New organ involvement in those with complete response.|NCI|N|
C5203070|Recurrence of disease in prior complete response or relapse in any skin, nodes, blood, or viscera category.|NCI|N|
C5203071|Any new lymph node greater than 1.5 cm in the long axis in those with complete response proven to be N3 histologically.|NCI|N|
C5203072|Increase of neoplastic blood lymphocytes to B1 or greater in those with complete response.|NCI|N|
C5203073|Formation of new myelin sheaths on demyelinated axons.|NCI|N|
C5203081|Appreciable tumor response amid viable tumor that is readily identifiable.|NCI|N|
C5203082|Complete or near complete response with no residual tumor OR minimal irregularly scatter tumor foci seen as individual cells, cell groups, or nodules up to 2 mm maximum size.|NCI|N|
C5203092|A higher than average sedimentation rate in a sample.|NCI|N|
C5203095|A score of 2 on the International Prognostic Index indicating that an individual has a low-intermediate risk of progression of non-Hodgkin lymphoma and a 5 year survival of 69%.|NCI|N|
C5203096|A score of 3 on the International Prognostic Index indicating that an individual has a high-intermediate risk of progression of non-Hodgkin lymphoma and a 5 year survival of 46%.|NCI|N|
C5203098|Fails to attain the criteria for complete response, partial response, or progressive disease.|NCI|N|
C5203099|Fails to attain the criteria for complete response, partial response, or progressive disease.|NCI|N|
C5203100|Failure to attain complete response, partial response, or progressive disease representative of all disease. Partial response in skin and no nodes, blood and viscera category has a progressive disease and if any category involved at baseline, no complete or partial response in any.|NCI|N|
C5203101|Less than 25 percent increase to less than 50 percent clearance in skin disease from baseline without new tumors (T3) in patients with T1, T2, or T4, only skin disease.|NCI|N|
C5203102|Less Than 10 percent decrease or''less than or equal to''20 percent increase in the sum of longest diameters of target lesions.|NCI|N|
C5203103|Fails to attain the criteria for complete response, partial response, or progressive disease.|NCI|N|
C5203106|A total IPSS-R score of more than 1.5 to 3, indicating low risk.|NCI|N|
C5203111|A subjective score of 3 on a symptom''s intensity and distress scale that ranges from 1: Slight to 5: Severe.|NCI|N|
C5203118|A subjective score of 2 on a symptom''s intensity and distress scale that ranges from 1: Slight to 5: Severe.|NCI|N|
C5203119|A subjective score of 5 on a symptom''s intensity and distress scale that ranges from 1: Slight to 5: Severe.|NCI|N|
C5203120|Criteria for the response to treatment in skin lesions, as a component of global response.|NCI|N|
C5203125|A biliary tract carcinoma that has spread from the original site of growth to other anatomic sites.|NCI|N|
C5203127|A response indicating that something took a great deal of effort.|NCI|N|
C5203130|Not recommended for use as an indicator of response. Stability of disease is best described by providing the time-to-progression estimates. Not meeting criteria for complete response, very good partial response, partial response, minimal response, or progressive disease.|NCI|N|
C5203193|The status of the device is unknown.|NCI|N|
C5203300|Hypopigmentation, organomegaly, and delayed myelination and development (HOD) is characterized by hypopigmented skin and hair with normally pigmented irides; organomegaly including enlargement of liver, kidney, and spleen; and delayed myelination on brain MRI accompanied by developmental delay in both gross and fine motor skills. Biopsy findings from skin and other organs are consistent with a lysosomal storage disorder (Nicoli et al., 2019).|OMIM|N|
C5203349|Autosomal dominant adult-onset distal myopathy-6 (MPD6) is a muscle disorder characterized by slowly progressive distal muscle weakness, primarily affecting the lower limbs and resulting in gait difficulties. Some patients develop involvement of proximal and upper limb muscles (summary by Savarese et al., 2019)|OMIM|N|
C5203410|Rothmund-Thomson syndrome (RTS) is characterized by a rash that progresses to poikiloderma; sparse hair, eyelashes, and/or eyebrows; small size; skeletal and dental abnormalities; juvenile cataracts; and an increased risk for cancer, especially osteosarcoma. A variety of benign and malignant hematologic abnormalities have been reported in affected individuals. The rash of RTS typically develops between ages three and six months (occasionally as late as age two years) as erythema, swelling, and blistering on the face, subsequently spreading to the buttocks and extremities. The rash evolves over months to years into the chronic pattern of reticulated hypo- and hyperpigmentation, telangiectasias, and punctate atrophy (collectively known as poikiloderma) that persist throughout life. Hyperkeratotic lesions occur in approximately one third of individuals. Skeletal abnormalities can include radial ray defects, ulnar defects, absent or hypoplastic patella, and osteopenia.|GeneReviews|N|
C5203411|Autosomal dominant severe congenital neutropenia-8 (SCN8) is a pleiotropic disorder with the consistent feature of decreased neutrophils associated with recurrent bacterial infections apparent from early infancy. Other hematologic parameters are usually normal, although some patients may have mild anemia. Bone marrow examination shows hypocellularity with arrested maturation of the granulocyte lineage at the level of promyelocytes or myeloblasts. Treatment with granulocyte colony-stimulating factor (GCSF; 138970) is usually ineffective or only partially effective, whereas hematopoietic bone marrow transplantation is effective. A subset of patients have additional features, including exocrine pancreatic insufficiency, which resembles Shwachman-Diamond syndrome (see SDS1, 260400), and/or neurologic deficits, including developmental delay, impaired intellectual development, speech delay, and/or autistic features (summary by Carapito et al., 2017 and Bellanne-Chantelot et al., 2018).
For discussion of genetic heterogeneity of severe congenital neutropenia, see SCN1 (202700).|OMIM|N|
C5203670|An acute infection of the respiratory tract that is caused by the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). Based on currently available information, SARS-CoV-2 is thought to mainly spread from person to person through respiratory droplets. Typically, there is a two- to 14-day incubation period and infected persons can present with no symptoms or mild to severe fever, dry cough, fatigue, and difficulty breathing. Dysgeusia, anosmia, and gastrointestinal and flu-like symptoms have also been reported. Older adults and persons of any age who have serious underlying medical conditions may be of higher risk for severe illness, including secondary infections, respiratory failure, and multi-organ dysfunction.|NCI|N|
C5203677|An assessment of how well reported food intake aligns with the 2015-2020 Dietary Guidelines for Americans.|SNOMEDCT_US|N|
C5203813|An endometrioid adenocarcinoma exhibiting squamous differentiation.|NCI|N|
C5203818|A low grade, non-invasive mixed epithelial proliferative neoplasm that arises from the ovary. In most cases is composed of serous and endocervical-type mucinous cells.|NCI|N|
C5203822|An endometrioid tumor exhibiting squamous differentiation.|NCI|N|
C5203824|A neoplasm of low malignant potential arising from a site in the female reproductive system. Almost all cases have been reported in the ovary. It is characterized by the presence of cystic spaces which are lined by atypical serous epithelial cells. The surrounding ovarian stroma is fibrotic. There is no evidence of stromal invasion.|NCI|N|
C5203838|A mesenchymal neoplasm that arises from the bladder.|NCI|N|
C5203852|An exceptionally rare neuroendocrine carcinoma that arises from the prostate gland. It is characterized by the presence of malignant large cells.|NCI|N|
C5203853|A change in the nucleotide sequence of the STX11 gene.|NCI|N|
C5203855|A change in the nucleotide sequence of the ITGB2 gene.|NCI|N|
C5203856|A change in the nucleotide sequence of the PRF1 gene.|NCI|N|
C5203857|A change in the nucleotide sequence of the LYST gene.|NCI|N|
C5203858|Acinar adenocarcinoma of the prostate gland characterized by the presence of scattered neuroendocrine cells by immunohistochemistry.|NCI|N|
C5203859|A morphologic finding indicating the presence of scattered neuroendocrine cells by immunohistochemistry in a cellular infiltrate.|NCI|N|
C5203860|A change in the nucleotide sequence of the XIAP gene.|NCI|N|
C5203861|A change in the nucleotide sequence of the UNC13D gene.|NCI|N|
C5203862|A change in the nucleotide sequence of the STXBP2 gene.|NCI|N|
C5203863|The Karnofsky Performance Status Score assessed preoperatively.|NCI|N|
C5203864|The ECOG Performance Status Score assessed preoperatively.|NCI|N|
C5203865|A finding indicating elevated concentrations of Epstein-Barr virus DNA in a sample.|NCI|N|
C5203866|A prostate adenocarcinoma characterized by the presence of cells with eosinophilic cytoplasmic granules that are positive for neuroendocrine markers by immunohistochemistry.|NCI|N|
C5203867|A change in the nucleotide sequence of the CD40LG gene.|NCI|N|
C5203868|A change in the nucleotide sequence of the RAB27A gene.|NCI|N|
C5203869|A change in the nucleotide sequence of the SIX1 gene.|NCI|N|
C5203870|A change in the nucleotide sequence of the SIX2 gene.|NCI|N|
C5203871|A change in the nucleotide sequence of the DROSHA gene.|NCI|N|
C5203872|A change in the nucleotide sequence of the DGCR8 gene.|NCI|N|
C5203873|A change in the nucleotide sequence of the MLLT1 gene.|NCI|N|
C5203874|A finding indicating high concentrations of hyaluronic acid in a sample.|NCI|N|
C5203875|A change in the nucleotide sequence of the CDK12 gene that either inhibits expression or results in the translation of an inactive cyclin-dependent kinase 12 protein.|NCI|N|
C5203876|A molecular genetic abnormality indicating the presence of a mutation in exon 12 of the JAK2 gene.|NCI|N|
C5203877|A point mutation in the FBXW7 gene that encodes an amino acid substitution in the F-box/WD repeat-containing protein 7 protein.|NCI|N|
C5203883|Any cytogenetic abnormality involving chromosome band 11q23.|NCI|N|
C5203886|Accumulation of dense eosinophilic deposits in the basement membrane.|NCI|N|
C5203896|A result of a mitotic rate equal to or greater than one per square millimeter.|NCI|N|
C5203905|The tumor status is unknown.|NCI|N|
C5203908|An indication that microRNAs found in the miRNA 371-373 cluster are overexpressed in a sample.|NCI|N|
C5203909|A change in the nucleotide sequence of the LHCGR gene.|NCI|N|
C5203910|A change in the nucleotide sequence of the FOXL2 gene.|NCI|N|
C5203917|Graft versus host disease occurring in the eye.|NCI|N|
C5203918|Chronic graft versus host disease occurring in the eye.|NCI|N|
C5203935|Inflammatory breast carcinoma that is not amenable to surgical resection.|NCI|N|
C5203936|Breast carcinoma that is not amenable to surgical resection.|NCI|N|
C5203939|No evidence of disease at the follow-up assessment.|NCI|N|
C5203957|The estimate of the number of cells, or size of the tumor from the results of an imaging modality.|NCI|N|
C5203958|The estimate of the number of cells, or size of the tumor from the results of a pathology examination.|NCI|N|
C5203962|A lesion composed of cells that have undergone transformation to less mature forms.|NCI|N|
C5203963|Radiologic evidence that supports a diagnosis.|NCI|N|
C5203964|A gastrointestinal stromal tumor occurring in a dog.|NCI|N|
C5203965|A granular cell tumor occurring in a dog.|NCI|N|
C5203966|Langerhans cell histiocytosis occurring in a dog.|NCI|N|
C5203967|A nephroblastoma occurring in a dog.|NCI|N|
C5203968|A response that there is a relationship to head and neck cancer.|NCI|N|
C5203969|A response that relates an event to acute myeloid leukemia.|NCI|N|
C5203984|A response that there is greater than or equal to 50% myometrial invasion.|NCI|N|
C5203987|A specification that indicates the time to assess is the time of diagnosis.|NCI|N|
C5203994|A nucleotide substitution at position 2073 of the coding sequence of the FLT3 gene where thymine has been mutated to adenine.|NCI|N|
C5203995|A change in the amino acid residue at position 691 in the receptor-type tyrosine-protein kinase FLT3 protein where phenylalanine has been replaced by leucine.|NCI|N|
C5203996|A result that there is no pathologic evidence of distant metastasis.|NCI|N|
C5203997|A response that an individual is considered premenopausal, as it has been longer than 6 months since LMP and there was no prior bilateral oophorectomy and she is not on estrogen replacement.|NCI|N|
C5204000|A response that a melanoma related only event occurred after the initial treatment.|NCI|N|
C5204001|A response that a non-melanoma related only event occurred after the initial treatment.|NCI|N|
C5204011|An irregularity in the structure of the long arm of chromosome 3.|NCI|N|
C5204016|A molecular genetic abnormality indicating the presence of a mutation in exon 15 of the BRAF gene.|NCI|N|
C5204022|A molecular abnormality indicating rearrangement of the CBFB gene.|NCI|N|
C5204025|An indication that a chromosomal deletion was detected in a sample.|NCI|N|
C5204026|An indication that cytogenetic abnormalities were not detected in a sample.|NCI|N|
C5204027|A cytogenetic abnormality that refers to the deletion of the chromosomal band 10q23, which also results in the deletion of the PTEN gene.|NCI|N|
C5204035|The anatomic location where a disease of interest originated.|NCI|N|
C5204040|A response that the bone marrow was classified by the World Health Organization (WHO) only.|NCI|N|
C5204043|An insertion of 3 nucleotides, thymine-cytosine-thymine, between position 2326 and 2327 of the coding sequence of the ERBB2 gene.|NCI|N|
C5204044|A deletion of the glycine and insertion of the amino acid sequence valine-cysteine at position 776 of the receptor tyrosine-protein kinase erbB-2 protein.|NCI|N|
C5204045|A change in the sequence of the ERG gene.|NCI|N|
C5204053|An indication that microsatellite instability was not assessed or that it is not known if it was assessed.|NCI|N|
C5204054|A nucleotide substitution at position 1727 of the coding sequence of the KIT gene where thymine has been mutated to cytosine.|NCI|N|
C5204055|A nucleotide substitution at position 1676 of the coding sequence of the KIT gene where thymine has been mutated to cytosine.|NCI|N|
C5204056|A nucleotide substitution at position 1669 of the coding sequence of the KIT gene where thymine has been mutated to adenine.|NCI|N|
C5204057|A nucleotide substitution at position 1669 of the coding sequence of the KIT gene where thymine has been mutated to cytosine.|NCI|N|
C5204058|A change in the amino acid residue at position 576 in the mast/stem cell growth factor receptor Kit protein where leucine has been replaced by proline.|NCI|N|
C5204059|A change in the amino acid residue at position 559 in the mast/stem cell growth factor receptor Kit protein where valine has been replaced by alanine.|NCI|N|
C5204060|A change in the amino acid residue at position 557 in the mast/stem cell growth factor receptor Kit protein where tryptophan has been replaced by arginine.|NCI|N|
C5204066|A large cell neuroendocrine carcinoma that has metastasized from its original site of growth to another anatomic site.|NCI|N|
C5204067|A neuroendocrine carcinoma that has spread from its original site of growth to nearby tissues or lymph nodes.|NCI|N|
C5204068|A large cell neuroendocrine carcinoma that has spread from its original site of growth to nearby tissues or lymph nodes.|NCI|N|
C5204069|A small cell or rarely a large cell neuroendocrine carcinoma that arises from the prostate gland.|NCI|N|
C5204070|A neuroendocrine carcinoma that arises from the prostate gland and has spread to other anatomic sites.|NCI|N|
C5204071|A prostate neuroendocrine carcinoma that has spread from its original site of growth to nearby tissues or lymph nodes.|NCI|N|
C5204072|A small cell neuroendocrine carcinoma that has spread from its original site of growth to nearby tissues or lymph nodes.|NCI|N|
C5204077|A change in the sequence of the MN1 gene.|NCI|N|
C5204081|A nucleotide substitution at position 34 of the coding sequence of the NRAS gene where guanine has been mutated to cytosine.|NCI|N|
C5204082|A nucleotide substitution at position 37 of the coding sequence of the NRAS gene where guanine has been mutated to adenine.|NCI|N|
C5204083|A change in the amino acid residue at position 12 in the GTPase NRas protein where glycine has been replaced by arginine.|NCI|N|
C5204084|A change in the amino acid residue at position 13 in the GTPase NRas protein where glycine has been replaced by serine.|NCI|N|
C5204113|An adenocarcinoma that arises from the exocrine pancreatic ducts and has metastasized to other anatomic sites.|NCI|N|
C5204114|Pancreatic ductal adenocarcinoma that has not spread beyond the pancreas.|NCI|N|
C5204115|A rare systemic amyloidosis with characteristics of the aggregation and deposition of amyloid fibrils composed of monoclonal immunoglobulin heavy-chain fragments, usually produced by a plasma cell neoplasm. Amyloid fibrils deposit in various organs, most commonly in the kidneys. It typically affects older patients and clinical presentation includes signs and symptoms of renal dysfunction, sometimes leading to nephrotic syndrome and end stage renal disease. Cardiac, liver and nerve involvement has also been described.|SNOMEDCT_US|N|
C5204116|An extremely rare type of amyloidosis characterized by the monoclonal deposition of immunoglobulin heavy chain and light chain fragments in organs and tissues.|NCI|N|
C5204117|A rare non-amyloid monoclonal immunoglobulin deposition disease characterized by secretion of abnormal light and heavy chains, which are deposited in tissues and cause organ dysfunction, but do not form amyloid beta-pleated sheets or contain an amyloid P component. The condition most frequently occurs in association with multiple myeloma. The kidneys are most commonly affected (clinically manifesting as nephrotic syndrome and renal failure), but liver, heart, peripheral nerves, blood vessels, and joints may also be involved.|ORDO|N|
C5204118|A morphologic variant of light chain proximal tubulopathy with no evidence of crystal formation. It is characterized by acute tubular injury with no evidence lysosomal immunoglobulin crystals.|NCI|N|
C5204119|A condition characterized by histiocytes containing intra-lysosomal accumulation of immunoglobulin light chains. Crystal-storing histiocytosis is often associated with plasma cell dyscrasias and lymphoproliferative disorders.|NCI|N|
C5204120|Glomerulonephritis caused by cryoglobulins which are composed of monoclonal immunoglobulins IgG, IgA, or IgM. It occurs in patients with lymphoproliferative disorders.|NCI|N|
C5204121|A sub-type of monoclonal gammopathy of renal significance, characterized by restriction to a single immunoglobulin G heavy chain subclass and a single light chain isotype. Light microscopy often shows an endocapillary proliferative or membranoproliferative glomerulopathy. Electron microscopy reveals electron-dense subendothelial and mesangial deposits.|NCI|N|
C5204122|A subset of C3 glomerulopathy in which there is an associated finding of monoclonal gammopathy.|NCI|N|
C5204125|A polygenic risk score value that indicates that an individual patient is likely to develop a specified neoplastic disease in their lifetime.|NCI|N|
C5204126|A polygenic risk score value that indicates that an individual patient is unlikely to develop a specified neoplastic disease in their lifetime.|NCI|N|
C5204209|A morphologic finding where cells are arranged in the form of a maze.|NCI|N|
C5204235|A response indicating that something is or was difficult all of the time.|NCI|N|
C5204236|A response indicating that something is or was difficult most of the time.|NCI|N|
C5204237|A response indicating that something is or was difficult some of the time.|NCI|N|
C5204238|A response indicating that something is or was difficult a slight bit of the time.|NCI|N|
C5204239|A response indicating that something does not apply to an individual''s job.|NCI|N|
C5204240|A response indicating that something is or was difficult none of the time.|NCI|N|
C5204241|A response indicating that an individual is or was able all of the time.|NCI|N|
C5204242|A response indicating that an individual is or was able most of the time.|NCI|N|
C5204243|A response indicating that an individual is or was able some of the time.|NCI|N|
C5204244|A response indicating that an individual is or was able a slight bit of the time.|NCI|N|
C5204245|A response indicating that an individual is or was able none of the time.|NCI|N|
C5204246|A response indicating that an individual pays someone for full-time help.|NCI|N|
C5204247|A response indicating that an individual pays someone for part-time help.|NCI|N|
C5204248|A response indicating that an individual does not want help.|NCI|N|
C5204249|A response indicating that an individual wants help but can''t get it.|NCI|N|
C5204255|A change in the nucleotide sequence for a gene that is a member of the Fanconi anemia complementation group.|NCI|N|
C5204256|A rare angiosarcoma arising from the kidney.|NCI|N|
C5204258|A rare Ewing sarcoma arising from the kidney.|NCI|N|
C5204259|A benign smooth muscle neoplasm arising from the kidney.|NCI|N|
C5204260|A section header to choose the location of the parenchyma in the lung.|NCI|N|
C5204261|A response that the parenchyma tumor is in the peripheral lung.|NCI|N|
C5204262|A response that the parenchyma tumor is in the central lung.|NCI|N|
C5204263|A rare lymphangioma arising from the kidney.|NCI|N|
C5204268|A morphologic finding indicating the presence of small, stellate, or spindled cells in a cellular infiltrate.|NCI|N|
C5204269|A rare schwannoma arising from the kidney.|NCI|N|
C5204270|A rare solitary fibrous tumor arising from the kidney.|NCI|N|
C5204271|A well-differentiated neuroendocrine neoplasm arising from the kidney. It is characterized by the presence of uniform cells with stippled chromatin and inconspicuous nucleoli. Mitotic activity is low and tumor necrosis is absent.|NCI|N|
C5204272|An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the kidney. According to the size of the malignant cells, the prominence of the nucleoli, and the amount of cytoplasm, it is classified either as small or large cell neuroendocrine carcinoma.|NCI|N|
C5204273|An extremely rare paraganglioma that arises from the renal hilum. Paragangliomas that arise from the perihilar sympathetic ganglia are not included in this category.|NCI|N|
C5204274|A rare benign or malignant germ cell tumor that arises from the kidney.|NCI|N|
C5204275|A finding indicating that a sample exhibits normal or near normal levels of homologous recombination DNA repair activity.|NCI|N|
C5204276|A finding of acute bilineal leukemia that is not growing and responds to treatment.|NCI|N|
C5204277|The margin of the sample has sarcoma.|NCI|N|
C5204278|A result that the margin is not uninvolved by invasive carcinoma.|NCI|N|
C5204279|The margin of the sample has no sarcoma.|NCI|N|
C5204280|A tumor located in the upper pole of the kidney.|NCI|N|
C5204281|A tumor located in the lower pole of the kidney.|NCI|N|
C5204282|A tumor located in the middle section of the kidney.|NCI|N|
C5204283|A finding of diffuse large B-cell lymphoma with no evidence of disease after therapy.|NCI|N|
C5204284|A finding of diffuse large B-cell lymphoma with some evidence of disease after therapy.|NCI|N|
C5204285|A finding indicating that there is invasion of the myometrium by cancer.|NCI|N|
C5204286|A response that there is less than 50% myometrial invasion.|NCI|N|
C5204287|A lack of clinical and/or pathology information to assign a stage conclusively.|NCI|N|
C5204289|A multifocal, extremely differentiated squamous cell carcinoma of the penis. It typically occurs in older patients and is associated with lichen sclerosus.|NCI|N|
C5204290|A penile squamous cell carcinoma characterized by the formation of gland-like structures.|NCI|N|
C5204291|A variant of verrucous carcinoma of the penis. It is characterized by a labyrinthine growth pattern.|NCI|N|
C5204292|An extremely rare carcinoma that arises from the penis and is characterized by the presence of glandular and squamous components.|NCI|N|
C5204293|A variant of penile basaloid squamous cell carcinoma. It is characterized by a papillary exophytic or endophytic growth pattern.|NCI|N|
C5204294|A squamous cell carcinoma that arises from the penis. It is characterized by warty (condylomatous) and basaloid features.|NCI|N|
C5204295|A variant of penile squamous cell carcinoma characterized by the presence of malignant cells with clear cytoplasm.|NCI|N|
C5204296|A variant of penile squamous cell carcinoma characterized by the presence of islands of malignant cells with uniform vesicular nuclei and prominent nucleoli, and a dense lymphocytic infiltrate.|NCI|N|
C5204303|A response that the growth phase is undetermined.|NCI|N|
C5204308|An indication that an individual is receiving something at the present time.|NCI|N|
C5204310|Nodules of melanoma located more than 0.05 mm from the primary lesion.|NCI|N|
C5204311|Satellite nodule in melanoma observed macroscopically.|NCI|N|
C5204312|One or more discontinuous nests of melanoma cells measuring at least 0.3 mm in diameter and separated from the primary lesion by more than 0.05 mm of normal tissue.|NCI|N|
C5204313|A finding indicating the spread of cutaneous melanoma to regional cutaneous or subcutaneous tissue, including satellite and in-transit metastasis.|NCI|N|
C5204343|A low grade ovarian epithelial neoplasm characterized by the presence of neoplastic mucinous epithelial cells, atypia, and microinvasion of the ovarian stroma.|NCI|N|
C5204344|A low grade ovarian epithelial neoplasm characterized by the presence of neoplastic mucinous epithelial cells, atypia, and the presence of intraepithelial carcinoma.|NCI|N|
C5204345|A low grade ovarian epithelial neoplasm characterized by the presence of atypical neoplastic serous and mucinous cells. Microinvasion of the ovarian stroma is present.|NCI|N|
C5204354|A response that the left lymph node dissection was not done.|NCI|N|
C5204355|A response that the left lymph node dissection was not done.|NCI|N|
C5204404|A response indicating that something took only a small amount of effort.|NCI|N|
C5204407|A result that the margin is uninvolved by invasive melanoma.|NCI|N|
C5204419|A nucleotide substitution at position 323 of the coding sequence of the EGFR gene where guanine has been mutated to adenine.|NCI|N|
C5204420|A change in the amino acid residue at position 108 in the epidermal growth factor receptor protein where arginine has been replaced by lysine.|NCI|N|
C5204421|A nucleotide substitution at position 787 of the coding sequence of the EGFR gene where adenine has been mutated to cytosine.|NCI|N|
C5204422|A change in the amino acid residue at position 263 in the epidermal growth factor receptor protein where threonine has been replaced by proline.|NCI|N|
C5204424|A nucleotide substitution at position 866 of the coding sequence of the EGFR gene where cytosine has been mutated to thymine.|NCI|N|
C5204425|A change in the amino acid residue at position 289 in the epidermal growth factor receptor protein where alanine has been replaced by valine.|NCI|N|
C5204426|A nucleotide substitution at position 866 of the coding sequence of the EGFR gene where cytosine has been mutated to adenine.|NCI|N|
C5204427|A change in the amino acid residue at position 289 in the epidermal growth factor receptor protein where alanine has been replaced by aspartic acid.|NCI|N|
C5204428|A nucleotide substitution at position 865 of the coding sequence of the EGFR gene where guanine has been mutated to adenine.|NCI|N|
C5204429|A change in the amino acid residue at position 289 in the epidermal growth factor receptor protein where alanine has been replaced by threonine.|NCI|N|
C5204430|A change in the amino acid residue at position 598 in the epidermal growth factor receptor protein where glycine has been replaced by valine.|NCI|N|
C5204431|A molecular genetic abnormality indicating the presence of an in-frame deletion mutation occurring within exon 20 of the EGFR gene.|NCI|N|
C5204447|A cytogenic abnormality that refers to any structural irregularity in chromosome 5.|NCI|N|
C5204450|A cytogenic abnormality that refers to any structural irregularity in chromosome 7.|NCI|N|
C5204458|A response indicating that an individual is in partial agreement with something.|NCI|N|
C5204459|A response indicating that an individual is in partial disagreement with something.|NCI|N|
C5204460|A microscopic finding that refers to a carcinoma which is composed either exclusively of an undifferentiated cellular infiltrate, or a mixture of well differentiated and undifferentiated cellular infiltrates.|NCI|N|
C5204461|A response indicating that an individual is immobile or can move less than 50 yards.|NCI|N|
C5204462|A response indicating that an individual is independent with use of a wheelchair, including corners, and can move more than 50 yards.|NCI|N|
C5204463|A response indicating that an individual can walk with verbal or physical help of one person and can move more than 50 yards.|NCI|N|
C5204464|Approximately 10-20 percent of the tissue surface area is occupied by immune cell infiltration.|NCI|N|
C5204465|Greater than 20-50 percent of the tissue surface area is occupied by immune cell infiltration.|NCI|N|
C5204466|Greater than 50 percent of the tissue surface area is occupied by immune cell infiltration.|NCI|N|
C5204467|Describes the percent of a tissue''s surface area occupied by immune cell infiltration.|NCI|N|
C5204477|A low grade ovarian epithelial neoplasm characterized by the presence of glandular or cystic spaces which contain atypical glandular epithelial cells resembling endometrial cells. Microinvasion of the ovarian stroma is present.|NCI|N|
C5204515|A rare bladder adenocarcinoma with the histologic characteristics of endometrioid adenocarcinoma of the endometrium.|NCI|N|
C5204517|Neither sufficient shrinkage to qualify for partial response nor sufficient increase to qualify for progressive disease, taking as reference the smallest sum longest diameter since start of treatment.|NCI|N|
C5204518|At least a 30% decrease in the sum of the longest diameter of target lesions, taking as reference the baseline sum longest diameter.|NCI|N|
C5204519|Gastroesophageal junction adenocarcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5204526|An adenocarcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5204529|A clear cell renal cell carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5204530|An adenocarcinoma that does not respond to treatment.|NCI|N|
C5204532|An adenocarcinoma that has recurred after a period of remission.|NCI|N|
C5204533|Unable to determine if a macroscopic satellite nodule exists.|NCI|N|
C5204537|The site of the new tumor event was identified in the study but is not present in the form.|NCI|N|
C5204542|An indication that a history of chemical/occupational exposures exists.|NCI|N|
C5204543|An indication that a history of chemical/occupational exposures does not exist.|NCI|N|
C5204544|The chemical/occupation exposure type is unknown.|NCI|N|
C5204545|A well-differentiated neuroendocrine neoplasm arising from the bladder. It is characterized by the presence of uniform cells with stippled chromatin and inconspicuous nucleoli. Mitotic activity is low and tumor necrosis is absent.|NCI|N|
C5204549|A response indicating that preoperative intravenous sedation was not administered.|NCI|N|
C5204550|A response indicating that preoperative intravenous sedation was administered.|NCI|N|
C5204551|A finding indicating the presence of widespread neoplastic disease in the peritoneum. Most often, the origin of the neoplasm is outside the peritoneum, but in rare cases the tumor may be primary.|NCI|N|
C5204552|A response indicating that preoperative intravenous opiates were administered.|NCI|N|
C5204553|A response indicating that other preoperative intravenous medications were administered.|NCI|N|
C5204554|A response indicating that preoperative intravenous opiates were administered.|NCI|N|
C5204555|A response indicating that preoperative intravenous antacids were administered.|NCI|N|
C5204556|A response indicating that preoperative intravenous antacids were not administered.|NCI|N|
C5204557|A response indicating that preoperative intravenous opiates were not administered.|NCI|N|
C5204558|A response indicating that other preoperative intravenous medications were not administered.|NCI|N|
C5204559|A response indicating that preoperative intravenous opiates were not administered.|NCI|N|
C5204563|A response indicating that local anesthesia agents were not administered.|NCI|N|
C5204564|A response indicating that local anesthesia agents were administered.|NCI|N|
C5204565|A response indicating that regional anesthesia agents were administered.|NCI|N|
C5204566|A response indicating that regional anesthesia agents were not administered.|NCI|N|
C5204567|A response indicating that intravenous anesthesia medications were administered.|NCI|N|
C5204568|A response indicating that intravenous anesthesia medications were not administered.|NCI|N|
C5204572|An indication that metastatic disease has been diagnosed.|NCI|N|
C5204573|An indication that metastatic disease has not been diagnosed.|NCI|N|
C5204576|An indication that the tumor is in the exocervix.|NCI|N|
C5204577|An indication that the tumor is in the endocervix.|NCI|N|
C5204580|An indication that the edition is other than those listed.|NCI|N|
C5204582|The menopause status is unknown.|NCI|N|
C5204605|A condition caused by biallelic mutation(s) in the SCYL1 gene, encoding N-terminal kinase-like protein. It is characterized by peripheral neuropathy, cerebellar atrophy, ataxia, and recurrent episodes of liver failure.|NCI|N|
C5204611|A rare melanoma that arises from the bladder mucosa.|NCI|N|
C5204612|A rare melanoma that arises from the urethral mucosa.|NCI|N|
C5204613|A very rare angiosarcoma that arises from the bladder.|NCI|N|
C5204614|The determination that an individual''s risk factor history is negative.|NCI|N|
C5204615|A benign or malignant perivascular epithelioid cell tumor arising from the bladder.|NCI|N|
C5204616|A benign perivascular epithelioid cell tumor arising from the bladder.|NCI|N|
C5204617|An endometrial carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5204618|A malignant perivascular epithelioid cell tumor arising from the bladder.|NCI|N|
C5204619|A solitary fibrous tumor that arises from the bladder. Most tumors are benign.|NCI|N|
C5204620|A hemangioma that arises from the bladder. Most tumors occur in adults.|NCI|N|
C5204621|A rare granular cell tumor arising from the bladder. Most tumors are benign.|NCI|N|
C5204622|A neurofibroma (benign peripheral nerve sheath tumor) located in the urinary bladder.|HPO|N|
C5204625|The ECOG performance status was not evaluated or available.|NCI|N|
C5204626|The ECOG performance status was not unknown.|NCI|N|
C5204629|An indication that some condition was identified upon an individual''s death.|NCI|N|
C5204630|An indication of the presence or absence of antibodies in the serum for a particular factor.|NCI|N|
C5204632|An indication of the most recent visit during which a particular event or status was noted.|NCI|N|
C5204635|An indication of the last visit during which an individual was noted to be without something.|NCI|N|
C5204638|An indication of the visit during which something was first noted.|NCI|N|
C5204642|An indication of the first visit during which a particular event or status was confirmed.|NCI|N|
C5204644|An indication of the first visit during which all components needed to determine something were present.|NCI|N|
C5204646|An indication that an individual used something prior to their baseline visit.|NCI|N|
C5204647|An indication that an individual used something at least one time.|NCI|N|
C5204650|Disappearance of all target lesions.|NCI|N|
C5204651|At lease a 20% increase in the sum of the longest diameter of target lesions, taking as reference the smallest sum longest diameter recorded since the treatment started or the appearance of one or more new lesions.|NCI|N|
C5204652|Unable to determine the histologic type.|NCI|N|
C5204656|A lack of clinical and/or pathology information to assign a cM stage conclusively.|NCI|N|
C5204657|A lack of clinical and/or pathology information to assign a pM stage conclusively.|NCI|N|
C5204680|Indicates that a person lives or lived in an emergency shelter or in transitional housing.|NCI|N|
C5204681|Indicates that a person did not have a single fixed location to sleep each night.|NCI|N|
C5204686|A subjective response indicating that something is rarely true.|NCI|N|
C5204687|A subjective response indicating that something is true nearly all of the time.|NCI|N|
C5204691|A response indicating there was one full term pregnancy.|NCI|N|
C5204692|A response indicating there were two full term pregnancies.|NCI|N|
C5204693|A response indicating there were three full term pregnancies.|NCI|N|
C5204694|A response indicating there were greater than or equal to four full term pregnancies.|NCI|N|
C5204695|The menopause status has not been evaluated.|NCI|N|
C5204696|An individual whose use of oral contraceptives is unknown.|NCI|N|
C5204698|A gastric carcinoma that is not amenable to surgical resection.|NCI|N|
C5204704|A finding indicating the treatment of a relapsed malignant tumor with checkpoint inhibitors to boost the immune response.|NCI|N|
C5204707|Minimal residual disease negativity in the marrow, by next-generation flow cytometry or next-generation sequencing, or both, and by imaging, confirmed a minimum of 1 year apart.|NCI|N|
C5204708|Absence of phenotypically aberrant clonal plasma cells by next-generation flow cytometry on bone marrow aspirates using the EuroFlow standard operation procedure for minimal residual disease detection in multiple myeloma (or validated equivalent method) with a minimum sensitivity of 1 in 10^5 nucleated cells or higher.|NCI|N|
C5204709|Absence of clonal plasma cells by next-generation sequencing on bone marrow aspirate in which presence of a clone is defined as less than two identical sequencing reads obtained after DNA sequencing of bone marrow aspirates using the LymphoSIGHT platform (or validated equivalent method) with a minimum sensitivity of 1 in 10^5 nucleated cells or higher.|NCI|N|
C5204710|Minimal residual disease negativity as defined by next-generation flow cytometry or next-generation sequencing plus disappearance of every area of increased tracer uptake found at baseline or a preceding PET/CT or decrease to less mediastinal blood pool standard uptake value or decrease to less than that of surrounding normal tissue.|NCI|N|
C5204712|A response that the measure of success of outcome after the completion of the first treatment is not applicable.|NCI|N|
C5204713|A response that the measure of success of outcome after the completion of the first treatment is unknown.|NCI|N|
C5204714|The timing of the performance scale is unknown.|NCI|N|
C5204715|A response that the performance status scale timing is not applicable.|NCI|N|
C5204717|An indication that the strain of human papillomavirus (HPV) was identified in the study but is not present in the form.|NCI|N|
C5204718|An indication that the method used to perform human papillomavirus (HPV) genotyping was identified in the study but is not present in the form.|NCI|N|
C5204719|An indication that vital sign data came directly from a device in a healthcare facility.|NCI|N|
C5204721|The individual was not lost to follow-up.|NCI|N|
C5204749|A population of plasma cells which display atypical morphological features, an abnormal immunophenotypic profile, and molecular genetic characteristics of clonality (monoclonality).|NCI|N|
C5204750|A response about some other aspect of an individual''s physical appearance.|NCI|N|
C5204756|The Karnofsky Performance Status Score is unknown.|NCI|N|
C5204757|The risk factor status is unknown.|NCI|N|
C5204758|The risk factor status is was identified in the study but is not present in the form .|NCI|N|
C5204759|Unable to determine the Child-Pugh class.|NCI|N|
C5204760|Unknown Ishak score.|NCI|N|
C5204761|A selection that the choice was identified in the study but is not present in the form.|NCI|N|
C5204763|An indication that overexpression of FGFR2B has been detected in a sample.|NCI|N|
C5204774|Indicates a body mass index of 30 or higher.|NCI|N|
C5204777|Any comments pertaining to the RECIST evaluation.|NCI|N|
C5204778|The outcome is unknown.|NCI|N|
C5204779|The outcome is not applicable.|NCI|N|
C5204784|Ovarian carcinoma that has a documented response to platinum-based chemotherapy.|NCI|N|
C5204785|Thymic carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5204786|A malignant thymoma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5204818|An indication of response to disease treatment that takes into account multiple body systems.|NCI|N|
C5204819|Criteria for the response to treatment in lymph nodes, as a component of global response.|NCI|N|
C5204820|Criteria for the response to treatment in viscera, as a component of global response.|NCI|N|
C5204821|Criteria for the response to treatment in blood, as a component of global response.|NCI|N|
C5204983|EBV-related lymphoma that is resistant to treatment.|NCI|N|
C5204988|The new tumor event is unknown.|NCI|N|
C5204989|The site of the new tumor event is unknown.|NCI|N|
C5204991|A carcinoma arising in a bladder diverticulum. Approximately one-third to half of the cases represent non-invasive, low-grade or high-grade urothelial carcinomas. Approximately half of the invasive carcinomas are urothelial. The rest include adenocarcinomas, squamous cell carcinomas, and small cell carcinomas.|NCI|N|
C5204992|The site of the tumor was identified in the study but is not present in the form.|NCI|N|
C5204994|The supratentorial location is unknown.|NCI|N|
C5204995|There is a history of the individual receiving therapeutic ionizing radiation to the head.|NCI|N|
C5204996|There is no history of the individual receiving therapeutic ionizing radiation to the head.|NCI|N|
C5204997|The history of the individual receiving therapeutic ionizing radiation to the head is unknown|NCI|N|
C5204998|The parents, siblings or children of an individual have a history of cancer.|NCI|N|
C5204999|The parents, siblings or children of an individual have no history of cancer.|NCI|N|
C5205000|The history of cancer of the parents, siblings or children of an individual is unknown.|NCI|N|
C5205001|The parents, siblings or children of an individual have a history of primary brain tumors.|NCI|N|
C5205002|The parents, siblings or children of an individual have no history of primary brain tumors.|NCI|N|
C5205003|The history of primary brain tumors of the parents, siblings or children of an individual is unknown.|NCI|N|
C5205006|The first presenting symptom related to the disease is unknown.|NCI|N|
C5205011|There is no non-neoplastic finding.|NCI|N|
C5205012|An indication that a history of medical treatment is present.|NCI|N|
C5205013|An indication that a history of medical treatment is absent.|NCI|N|
C5205014|The history of medical treatments is unknown.|NCI|N|
C5205015|An indication that a cancer history is present.|NCI|N|
C5205017|An indication that a cancer history is absent.|NCI|N|
C5205019|An indication that a cancer history is unknown.|NCI|N|
C5205022|There is a history of other medical treatment.|NCI|N|
C5205024|Documentation is present.|NCI|N|
C5205025|Documentation is absent.|NCI|N|
C5205027|Documentation is unknown.|NCI|N|
C5205029|An indication that the tumor zone is unknown.|NCI|N|
C5205030|A finding indicating the tumor location is on the right side of the specimen.|NCI|N|
C5205031|A finding indicating the tumor location is on the left side of the specimen.|NCI|N|
C5205032|A finding indicating the tumor location is on the both sides of the specimen.|NCI|N|
C5205035|There is a family history of stomach cancer.|NCI|N|
C5205036|There is no family history of stomach cancer.|NCI|N|
C5205038|Both the left and the right thyroid glands.|NCI|N|
C5205039|There is no first degree family history of thyroid cancer.|NCI|N|
C5205040|There is a first degree family history of thyroid cancer.|NCI|N|
C5205041|There is an unknown first degree family history of thyroid cancer.|NCI|N|
C5205042|There is an unknown history of radiation exposure.|NCI|N|
C5205043|There is a history of radiation exposure.|NCI|N|
C5205044|There is no history of radiation exposure.|NCI|N|
C5205045|Adjuvant I-131 therapy was administered.|NCI|N|
C5205046|Adjuvant I-131 therapy was not administered.|NCI|N|
C5205050|A response indicating that there was more than enough money left over.|NCI|N|
C5205051|A response indicating that there was some money left over.|NCI|N|
C5205052|A response indicating that there was just enough money left over to make ends meet.|NCI|N|
C5205053|A response indicating that there was almost enough money left over to make ends meet.|NCI|N|
C5205054|A response indicating that there was not enough money left over to make ends meet.|NCI|N|
C5205055|A response that the first course treatment completion measure of success of outcome is not applicable.|NCI|N|
C5205056|The reemergence of high grade B-cell lymphoma after a period of remission.|NCI|N|
C5205057|The reemergence of diffuse large B-cell lymphoma germinal center B-cell type after a period of remission.|NCI|N|
C5205058|The reemergence of diffuse large B-cell lymphoma activated B-cell type after a period of remission.|NCI|N|
C5205059|The reemergence of transformed follicular lymphoma to diffuse large B-cell lymphoma after a period of remission.|NCI|N|
C5205060|High grade B-cell lymphoma that is resistant to treatment.|NCI|N|
C5205061|A finding of few tumor infiltrating lymphocytes in a biospecimen.|NCI|N|
C5205062|A finding of many tumor infiltrating lymphocytes in a biospecimen.|NCI|N|
C5205063|A finding of a moderate number of tumor infiltrating lymphocytes in a biospecimen.|NCI|N|
C5205064|A finding of an unknown number of tumor infiltrating lymphocytes in a biospecimen.|NCI|N|
C5205065|Diffuse large B-cell lymphoma germinal center B-cell type that is resistant to treatment.|NCI|N|
C5205066|Diffuse large B-cell lymphoma activated B-cell type that is resistant to treatment.|NCI|N|
C5205067|Transformed follicular lymphoma to diffuse large B-cell lymphoma that is resistant to treatment.|NCI|N|
C5205069|The switching of latent adenovirus to a lytic infection.|NCI|N|
C5205070|The eye color is unknown.|NCI|N|
C5205071|The color of the eye was identified in the study but is not present in the form.|NCI|N|
C5205074|A response that the patient was postmenopausal at diagnosis for longer than 12 months since the last menstrual period with no prior oophorectomy or prior bilateral oophorectomy.|NCI|N|
C5205075|A response that the patient was not postmenopausal at diagnosis for longer than 12 months since the last menstrual period with no prior oophorectomy or prior bilateral oophorectomy.|NCI|N|
C5205076|A response indicating current use of menopausal hormonal therapy.|NCI|N|
C5205077|A response indicating former use of menopausal hormonal therapy.|NCI|N|
C5205078|A response indicating menopausal hormonal therapy was never used.|NCI|N|
C5205079|A response indicating unknown use of menopausal hormonal therapy.|NCI|N|
C5205080|A response indicating that another form of birth control was used.|NCI|N|
C5205081|A response indicating that another form of birth control was not used.|NCI|N|
C5205082|A response indicating that use of another form of birth control is unknown.|NCI|N|
C5205085|A response indicating Tamoxifen is currently being used.|NCI|N|
C5205086|A response indicating Tamoxifen has never been taken.|NCI|N|
C5205087|A response indicating unknown Tamoxifen use.|NCI|N|
C5205088|A response indicating there an unknown number of full term pregnancies.|NCI|N|
C5205089|A response indicating that adjuvant post-operative radiation therapy was administered.|NCI|N|
C5205090|A response indicating that adjuvant post-operative radiation therapy was not administered.|NCI|N|
C5205091|A response indication the administration of adjuvant post-operative radiation therapy is unknown.|NCI|N|
C5205092|A response indicating that adjuvant post-operative pharmaceutical therapy was administered.|NCI|N|
C5205093|A response indicating that adjuvant post-operative pharmaceutical therapy was not administered.|NCI|N|
C5205094|A response indication the administration of adjuvant pharmaceutical post-operative therapy is unknown.|NCI|N|
C5205095|A response indicating that adjuvant post-operative immunological therapy was administered.|NCI|N|
C5205096|A response indicating that adjuvant post-operative immunological therapy was not administered.|NCI|N|
C5205097|A response indication the administration of adjuvant post-operative immunological therapy is unknown.|NCI|N|
C5205099|A response indicating that hypertension is present.|NCI|N|
C5205100|A response indicating that hypertension is absent.|NCI|N|
C5205101|A response indicating that hypertension status is unknown.|NCI|N|
C5205102|A response indicating that physician diagnosed diabetes is present.|NCI|N|
C5205103|A response indicating that physician diagnosed diabetes status is unknown.|NCI|N|
C5205104|A response indicating that physician diagnosed diabetes is absent.|NCI|N|
C5205105|A response indicating that a history of colorectal cancer is present.|NCI|N|
C5205106|A response indicating that a history of colorectal cancer is absent.|NCI|N|
C5205107|A response indicating that a history of colorectal cancer status is unknown.|NCI|N|
C5205108|The outcome after completion of this form is not applicable.|NCI|N|
C5205109|There is evidence of a new tumor after the initial treatment.|NCI|N|
C5205110|It is unknown if a new tumor exists after the initial treatment.|NCI|N|
C5205112|An indication that specific tests were performed during the study.|NCI|N|
C5205113|An indication that it is not known what tests were performed during the study.|NCI|N|
C5205114|An indication that additional tests were not performed during the study.|NCI|N|
C5205115|An indication that additional tests were performed during the study.|NCI|N|
C5205118|Lung small cell carcinoma that is not amenable to surgical resection.|NCI|N|
C5205119|Small cell lung carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5205120|NUT carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5205121|Additional surgery for the new tumor event was performed.|NCI|N|
C5205122|Additional surgery for the new tumor event was not performed.|NCI|N|
C5205123|NUT carcinoma that is not amenable to surgical resection.|NCI|N|
C5205124|Additional surgery for the new tumor event is unknown.|NCI|N|
C5205125|An indication that it is not known whether additional tests were performed during the study.|NCI|N|
C5205126|An indication that 10q23/PTEN deletion analysis was not performed during the study.|NCI|N|
C5205127|An indication that 10q23/PTEN deletion analysis was performed during the study.|NCI|N|
C5205128|The surgical procedure for the new tumor event is unknown|NCI|N|
C5205129|An indication that 1p/19q deletion analysis was not performed during the study.|NCI|N|
C5205130|An indication that 1p/19q deletion analysis was performed during the study.|NCI|N|
C5205131|An indication that additional immunohistochemical tests were not performed during the study.|NCI|N|
C5205132|An indication that additional immunohistochemical tests were performed during the study.|NCI|N|
C5205133|An indication that additional molecular tests were not performed during the study.|NCI|N|
C5205134|An indication that additional molecular tests were performed during the study.|NCI|N|
C5205135|An indication that mutation analysis was not performed during the study.|NCI|N|
C5205136|An indication that mutation analysis was performed during the study.|NCI|N|
C5205138|An indication that ALK rearrangement analysis was not performed during the study.|NCI|N|
C5205139|An indication that ALK rearrangement analysis was performed during the study.|NCI|N|
C5205142|An indication that ATRX mutation analysis was not performed during the study.|NCI|N|
C5205143|An indication that ATRX mutation analysis was performed during the study.|NCI|N|
C5205145|An indication that immunophenotyping and cytochemistry were not performed on bone marrow aspirates during the study.|NCI|N|
C5205146|An indication that immunophenotyping and cytochemistry were performed on bone marrow aspirates during the study.|NCI|N|
C5205151|An indication that BRAF mutation analysis was not performed during the study.|NCI|N|
C5205152|An indication that BRAF mutation analysis was performed during the study.|NCI|N|
C5205153|An indication that BRAF rearrangement analysis was not performed during the study.|NCI|N|
C5205170|An indication that EGFR amplification analysis was not performed during the study.|NCI|N|
C5205171|An indication that EGFR amplification analysis was performed during the study.|NCI|N|
C5205172|An indication that EGFR mutation analysis was not performed during the study.|NCI|N|
C5205173|An indication that EGFR mutation analysis was performed during the study.|NCI|N|
C5205174|An indication that ERBB2 mutation analysis was not performed during the study.|NCI|N|
C5205175|An indication that ERBB2 mutation analysis was performed during the study.|NCI|N|
C5205177|A molecular abnormality indicating rearrangement of an ETV family gene.|NCI|N|
C5205189|A response indicating that adjuvant post-operative chemotherapy was administered.|NCI|N|
C5205190|A response indicating that adjuvant post-operative chemotherapy was not administered.|NCI|N|
C5205191|A response indication the administration of adjuvant post-operative chemotherapy is unknown.|NCI|N|
C5205195|An indication that IDH family mutation analysis was not performed during the study.|NCI|N|
C5205196|An indication that IDH family mutation analysis was performed during the study.|NCI|N|
C5205197|An indication that immunohistochemical testing was not performed during the study.|NCI|N|
C5205198|An indication that immunohistochemical testing was performed during the study.|NCI|N|
C5205199|An indication that it is not known whether mutation analysis was performed during the study.|NCI|N|
C5205200|An indication that it is not known whether additional immunohistochemical tests were performed during the study.|NCI|N|
C5205201|An indication that it is not known whether additional molecular analysis was performed during the study.|NCI|N|
C5205202|An indication that it is not known whether immunohistochemical tests were performed during the study.|NCI|N|
C5205203|A response indicating that adjuvant post-operative targeted molecular therapy was administered.|NCI|N|
C5205204|A response indicating that adjuvant post-operative targeted molecular therapy was not administered.|NCI|N|
C5205205|A response indication the administration of adjuvant post-operative targeted molecular therapy is unknown.|NCI|N|
C5205206|An indication that KIT mutation analysis was not performed during the study.|NCI|N|
C5205207|An indication that KIT mutation analysis was performed during the study.|NCI|N|
C5205208|A response that the first course treatment completion measure of success of outcome is unknown.|NCI|N|
C5205210|An indication that KRAS mutation analysis was not performed during the study.|NCI|N|
C5205211|An indication that KRAS mutation analysis was performed during the study.|NCI|N|
C5205212|An indication that lymph node dissection was not performed during the study.|NCI|N|
C5205213|An indication that lymph node dissection was performed during the study.|NCI|N|
C5205216|A response that the follow-up form completion measure of success of outcome is unknown.|NCI|N|
C5205217|A response that the follow-up form completion measure of success of outcome is not applicable.|NCI|N|
C5205218|An indication that MET mutation analysis was not performed during the study.|NCI|N|
C5205219|An indication that MET mutation analysis was performed during the study.|NCI|N|
C5205220|An indication that MGMT promoter methylation analysis was not performed during the study.|NCI|N|
C5205221|An indication that MGMT promoter methylation analysis was performed during the study.|NCI|N|
C5205224|A change in the nucleotide sequence of the CYSLTR2 gene.|NCI|N|
C5205225|An indication that expression of MLH1 was not detected in the nuclei of cells in a sample.|NCI|N|
C5205226|An indication that expression of MLH1 was detected in the nuclei of cells in a sample.|NCI|N|
C5205227|An indication that expression of MSH2 was not detected in the nuclei of cells in a sample.|NCI|N|
C5205228|An indication that expression of MSH2 was detected in the nuclei of cells in a sample.|NCI|N|
C5205229|An indication that expression of MSH6 was detected in the nuclei of cells in a sample.|NCI|N|
C5205230|An indication that expression of MSH6 was not detected in the nuclei of cells in a sample.|NCI|N|
C5205231|An indication that expression of PMS2 was not detected in the nuclei of cells in a sample.|NCI|N|
C5205232|An indication that expression of TP53 was detected in the nuclei of cells in a sample.|NCI|N|
C5205233|An indication that expression of TP53 was not detected in the nuclei of cells in a sample.|NCI|N|
C5205235|Lymph nodes located outside the region of interest.|NCI|N|
C5205237|An indication that NF1 mutation analysis was performed during the study.|NCI|N|
C5205238|An indication that NF1 mutation analysis was not performed during the study.|NCI|N|
C5205239|An indication that it is not known whether 10q23/PTEN deletion analysis was performed during the study.|NCI|N|
C5205240|An indication that it is not known whether 1p/19q deletion analysis was performed during the study.|NCI|N|
C5205241|An indication that it is not known whether ALK rearrangement analysis was performed during the study.|NCI|N|
C5205242|An indication that it is not known whether ATRX mutation analysis was performed during the study.|NCI|N|
C5205243|An indication that it is not known if immunophenotyping and cytochemistry were performed on bone marrow aspirates during the study.|NCI|N|
C5205244|An indication that it is not known whether BRAF mutation analysis was performed during the study.|NCI|N|
C5205245|An indication that it is not known whether BRAF rearrangement analysis was performed during the study.|NCI|N|
C5205246|A change in the nucleotide sequence of the BRAF gene that occurs outside of codon 600 and results in activation of both serine/threonine-protein kinase B-raf and its downstream signaling pathways.|NCI|N|
C5205248|A well differentiated, intermediate grade neoplasm with neuroendocrine differentiation that arises from the jejunum. The mitotic count is 2-20 per 10 HPF and/or the Ki67 index is 3 to 20 percent.|NCI|N|
C5205251|A well differentiated, intermediate grade neoplasm with neuroendocrine differentiation that arises from the ileum. The mitotic count is 2-20 per 10 HPF and/or the Ki67 index is 3 to 20 percent.|NCI|N|
C5205253|A well differentiated, intermediate grade neoplasm with neuroendocrine differentiation that arises from the duodenum. The mitotic count is 2-20 per 10 HPF and/or the Ki67 index is 3 to 20 percent.|NCI|N|
C5205254|A well differentiated, intermediate grade neoplasm with neuroendocrine differentiation that arises from the colon. The mitotic count is 2-20 per 10 HPF and/or the Ki67 index is 3 to 20 percent.|NCI|N|
C5205255|Additional surgery was performed for a new loco-regional tumor event.|NCI|N|
C5205256|Additional surgery was not performed for a new loco-regional tumor event.|NCI|N|
C5205257|It is unknown if additional surgery was performed for a new loco-regional tumor event.|NCI|N|
C5205258|It is unknown if additional surgery was performed for a new metastatic tumor event.|NCI|N|
C5205259|Additional surgery was not performed for a new metastatic tumor event.|NCI|N|
C5205260|Additional surgery was performed for a new metastatic tumor event.|NCI|N|
C5205261|A well differentiated, intermediate grade neoplasm with neuroendocrine differentiation that arises from the rectum. The mitotic count is 2-20 per 10 HPF and/or the Ki67 index is 3 to 20 percent.|NCI|N|
C5205262|An indication that it is not known whether EGFR amplification analysis was performed during the study.|NCI|N|
C5205263|An indication that it is not known whether EGFR mutation analysis was performed during the study.|NCI|N|
C5205264|An indication that it is not known whether ERBB2 mutation analysis was performed during the study.|NCI|N|
C5205265|An indication that it is not known whether IDH family mutation analysis was performed during the study.|NCI|N|
C5205266|An indication that it is not known whether KIT mutation analysis was performed during the study.|NCI|N|
C5205267|An indication that it is not known whether KRAS rearrangement analysis was performed during the study.|NCI|N|
C5205268|An indication that it is not known whether lymph node dissection was performed during the study.|NCI|N|
C5205269|An indication that it is not known whether MET mutation analysis was performed during the study.|NCI|N|
C5205270|An indication that it is not known whether MGMT promoter methylation analysis was performed during the study.|NCI|N|
C5205271|An indication that it is not known whether NF1 mutation analysis was performed during the study.|NCI|N|
C5205272|An indication that it is not known whether NRAS rearrangement analysis was performed during the study.|NCI|N|
C5205273|An indication that it is not known whether PDGFRA mutation analysis was performed during the study.|NCI|N|
C5205274|An indication that it is not known if immunophenotyping and cytochemistry were performed on peripheral blood samples during the study.|NCI|N|
C5205275|An indication that it is not known whether PTEN mutation analysis was performed during the study.|NCI|N|
C5205276|An indication that it is not known whether RET rearrangement analysis was performed during the study.|NCI|N|
C5205277|A response was that the individual was using smokeless tobacco at the time of diagnosis.|NCI|N|
C5205278|An indication that it is not known whether ROS1 rearrangement analysis was performed during the study.|NCI|N|
C5205279|A response was that the individual was not using smokeless tobacco at the time of diagnosis.|NCI|N|
C5205280|A response was that it was unknown if the individual was using smokeless tobacco at the time of diagnosis.|NCI|N|
C5205281|A response that the individual used smokeless tobacco regularly for six weeks or longer.|NCI|N|
C5205282|A response that the individual did not use smokeless tobacco regularly for six weeks or longer.|NCI|N|
C5205283|A response that it is unknown if the individual used smokeless tobacco regularly for six weeks or longer.|NCI|N|
C5205284|A response that it the daily use of smokeless tobacco after at least six weeks of use is unknown.|NCI|N|
C5205285|A question about the age of an individual when they quit using smokeless tobacco, once they have been using regularly for six weeks.|NCI|N|
C5205286|An indication that it is not known whether SDH complex mutation analysis was performed during the study.|NCI|N|
C5205287|An indication that it is not known whether TP53 mutation analysis was performed during the study.|NCI|N|
C5205288|An indication that NRAS mutation analysis was not performed during the study.|NCI|N|
C5205289|An indication that NRAS mutation analysis was performed during the study.|NCI|N|
C5205290|A molecular abnormality indicating rearrangement of the PAX8 gene.|NCI|N|
C5205292|An indication that PDGFRA mutation analysis was not performed during the study.|NCI|N|
C5205293|An indication that PDGFRA mutation analysis was performed during the study.|NCI|N|
C5205295|An indication that immunophenotyping and cytochemistry were not performed on peripheral blood samples during the study.|NCI|N|
C5205296|An indication that immunophenotyping and cytochemistry were performed on peripheral blood samples during the study.|NCI|N|
C5205298|An indication that PTEN mutation analysis was not performed during the study.|NCI|N|
C5205299|An indication that PTEN mutation analysis was performed during the study.|NCI|N|
C5205300|Failure to achieve a disease-free state following BCG treatment.|NCI|N|
C5205302|An indication that RET rearrangement analysis was not performed during the study.|NCI|N|
C5205303|An indication that RET rearrangement analysis was performed during the study.|NCI|N|
C5205304|An indication that ROS1 rearrangement analysis was not performed during the study.|NCI|N|
C5205305|An indication that ROS1 rearrangement analysis was performed during the study.|NCI|N|
C5205306|An indication that SDH complex mutation analysis was not performed during the study.|NCI|N|
C5205307|An indication that SDH complex mutation analysis was performed during the study.|NCI|N|
C5205374|A molecular abnormality indicating mutation in the promoter region of the TERT gene.|NCI|N|
C5205376|An indication that TP53 mutation analysis was not performed during the study.|NCI|N|
C5205377|An indication that TP53 mutation analysis was performed during the study.|NCI|N|
C5205384|An indication that fluorescence in situ hybridization was performed during the study.|NCI|N|
C5205385|An indication that fluorescence in situ hybridization was not performed during the study.|NCI|N|
C5205386|An indication that it is not known whether fluorescence in situ hybridization was performed during the study.|NCI|N|
C5205387|Esophageal carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5205388|A response that the age an individual started using smokeless tobacco after six weeks regular use is unknown.|NCI|N|
C5205389|A response that evidence of disease was present after completion of therapy.|NCI|N|
C5205390|A response that evidence of disease was not present after completion of therapy.|NCI|N|
C5205392|A response that evidence of disease is unknown after completion of therapy.|NCI|N|
C5205395|A response that a surgical procedure was the curative therapy.|NCI|N|
C5205396|A response that non-concurrent chemotherapy was the curative therapy.|NCI|N|
C5205397|A response that concurrent chemotherapy was the curative therapy.|NCI|N|
C5205398|A response that radiation therapy was the curative therapy.|NCI|N|
C5205404|The reemergence of malignant ovarian granulosa cell tumor after a period of remission.|NCI|N|
C5205405|A response that the tumor reoccurrence was present after the initial treatment.|NCI|N|
C5205407|A response that tumor reoccurrence was not present after the initial treatment.|NCI|N|
C5205408|A response that tumor reoccurrence status was unknown after the initial treatment.|NCI|N|
C5205417|A response that radiation was administered as an additional treatment for a new tumor event.|NCI|N|
C5205418|A response that radiation was not administered as an additional treatment for a new tumor event.|NCI|N|
C5205419|A response that indicates it is unknown if radiation was administered as an additional treatment for a new tumor event.|NCI|N|
C5205420|A response that chemotherapy was administered as an additional treatment for a new tumor event.|NCI|N|
C5205421|A response that chemotherapy was not administered as an additional treatment for a new tumor event.|NCI|N|
C5205422|A response that indicates it is unknown if chemotherapy was administered as an additional treatment for a new tumor event.|NCI|N|
C5205423|A response that immunotherapy was administered as an additional treatment for a new tumor event.|NCI|N|
C5205424|A response that immunotherapy was not administered as an additional treatment for a new tumor event.|NCI|N|
C5205425|A response that indicates it is unknown if immunotherapy was administered as an additional treatment for a new tumor event.|NCI|N|
C5205426|A response that hormone therapy was administered as an additional treatment for a new tumor event.|NCI|N|
C5205427|A response that hormone therapy was not administered as an additional treatment for a new tumor event.|NCI|N|
C5205428|A response that it was unknown if hormone therapy was administered as an additional treatment for a new tumor event.|NCI|N|
C5205429|A response that targeted molecular therapy was administered as an additional treatment for a new tumor event.|NCI|N|
C5205430|A response that targeted molecular therapy was not administered as an additional treatment for a new tumor event.|NCI|N|
C5205431|A response that indicates it is unknown if targeted molecular therapy was administered as an additional treatment for a new tumor event.|NCI|N|
C5205432|A complex substitution where the nucleotide sequence at positions 394 and 395 of the coding sequence of the IDH1 gene has changed from cytosine-guanine to guanine-thymine.|NCI|N|
C5205433|A change in the amino acid residue at position 132 in the isocitrate dehydrogenase [NADP] cytoplasmic protein where arginine has been replaced by valine.|NCI|N|
C5205434|A nucleotide substitution at position 418 of the coding sequence of the IDH2 gene where cytosine has been mutated to thymine.|NCI|N|
C5205435|A change in the amino acid residue at position 140 in the isocitrate dehydrogenase [NADP], mitochondrial protein where arginine has been replaced by tryptophan.|NCI|N|
C5205436|Disease progression at a limited number of anatomic sites, in the context of stable disease at other anatomic sites.|NCI|N|
C5205437|A nucleotide substitution at position 419 of the coding sequence of the IDH2 gene where guanine has been mutated to thymine.|NCI|N|
C5205438|A change in the amino acid residue at position 140 in the isocitrate dehydrogenase [NADP], mitochondrial protein where arginine has been replaced by leucine.|NCI|N|
C5205441|A nucleotide substitution at position 419 of the coding sequence of the IDH2 gene where guanine has been mutated to adenine.|NCI|N|
C5205443|A change in the amino acid residue at position 140 in the isocitrate dehydrogenase [NADP], mitochondrial protein where arginine has been replaced by glutamine.|NCI|N|
C5205444|A nucleotide substitution at position 516 of the coding sequence of the IDH2 gene where guanine has been mutated to cytosine.|NCI|N|
C5205445|A nucleotide substitution at position 516 of the coding sequence of the IDH2 gene where guanine has been mutated to thymine.|NCI|N|
C5205446|A change in the amino acid residue at position 172 in the isocitrate dehydrogenase [NADP], mitochondrial protein where arginine has been replaced by serine.|NCI|N|
C5205447|A squamous cell carcinoma that arises from the skin in a patient with a history of hematologic malignancy, usually non-Hodgkin lymphoma or chronic lymphocytic leukemia.|NCI|N|
C5205448|A response that a melanoma and non-melanoma related only event occurred after the initial treatment.|NCI|N|
C5205450|A response that the bone marrow was classified by the French-American-British (FAB) method only.|NCI|N|
C5205452|The individual is a current user of hormonal contraceptives.|NCI|N|
C5205453|The individual is a former user of hormonal contraceptives.|NCI|N|
C5205454|The individual has never used of hormonal contraceptives.|NCI|N|
C5205455|The individual''s use of hormonal contraceptives is unknown.|NCI|N|
C5205456|Indicates that human immunodeficiency virus status of a sample is unknown.|NCI|N|
C5205459|An indication that a history of chemical/occupational exposures is unknown.|NCI|N|
C5205460|There is an unknown family history of stomach cancer.|NCI|N|
C5205461|A response that the new disease is multifocal.|NCI|N|
C5205462|A response that the new disease is not multifocal.|NCI|N|
C5205463|A finding indicating that a neoplastic cellular infiltrate has broken the basement membrane and invaded the lamina propria.|NCI|N|
C5205468|A morphologic finding indicating the presence of a malignant cellular infiltrate invading the ductal and acinar structures of the prostate gland.|NCI|N|
C5205469|A response that the extranodal tumor extension is undetermined.|NCI|N|
C5205470|A response that the lymphatic invasion of a specimen is indeterminate.|NCI|N|
C5205471|An indication that the perineural invasion is indeterminate.|NCI|N|
C5205472|A response that the tumor regression is indeterminate.|NCI|N|
C5205473|A result that determining if ulceration exists is not possible.|NCI|N|
C5205474|A response that multiple known primary tumors were present at the initial melanoma diagnosis.|NCI|N|
C5205475|A response that multiple known primary tumors were absent at the initial melanoma diagnosis.|NCI|N|
C5205476|A response that multiple known primary tumors were unknown at the initial melanoma diagnosis.|NCI|N|
C5205477|A finding of an unknown Clark level.|NCI|N|
C5205478|A response that tumor necrosis has not been identified.|NCI|N|
C5205481|A result that the margin status cannot be assessed.|NCI|N|
C5205483|A result that ulceration is present|NCI|N|
C5205484|A result that ulceration is absent|NCI|N|
C5205485|A response that no pathologic findings were identified.|NCI|N|
C5205486|A response that indicates pathologic findings were present other than those on the form.|NCI|N|
C5205489|A GIST grade that cannot be assessed.|NCI|N|
C5205495|The determination of the presence of actual or potential neoplastic tissue which has been left outside the boundary of a resected specimen within the patient cannot be assessed.|NCI|N|
C5205497|A response that lymphatic invasion is absent in a specimen.|NCI|N|
C5205499|Minimal residual disease; low chance of disease recurrence.|NCI|N|
C5205500|Moderate residual disease; moderate chance of disease recurrence.|NCI|N|
C5205501|Extensive residual disease; highest chance of disease recurrence.|NCI|N|
C5205507|A response that paraneoplastic syndrome is not present.|NCI|N|
C5205508|A response that paraneoplastic syndrome status is unknown.|NCI|N|
C5205509|A response that tumor progression was present after initial treatment.|NCI|N|
C5205510|A response that tumor progression was not present after initial treatment.|NCI|N|
C5205511|A response that it is unknown if there was tumor progression after initial treatment.|NCI|N|
C5205512|A response that a subsequent known primary melanoma was found during the follow-up period.|NCI|N|
C5205513|A response that a subsequent known primary melanoma was not found during the follow-up period.|NCI|N|
C5205515|The need for additional surgery for a new metastatic tumor event was not evaluated.|NCI|N|
C5205523|A response that routine cytogenetic testing was completed.|NCI|N|
C5205524|A response that routine cytogenetic testing was not completed.|NCI|N|
C5205525|A response that the status of complete routine cytogenetic testing is unknown.|NCI|N|
C5205526|A rating for AML by CALGB which indicates the outlook on the patient recovery is favored towards recovery.|NCI|N|
C5205527|A rating for AML by CALGB which indicates the outlook on the patient recovery can be considered between favorable and poor.|NCI|N|
C5205528|A rating for AML by CALGB which indicates the outlook on the patient recovery can be considered poor.|NCI|N|
C5205529|A rating for AML by CALGB which indicates the patient has met the CALGB criteria for remission.|NCI|N|
C5205530|A result that is other than those presented in the form.|NCI|N|
C5205532|A response of a type of molecular analysis other than what is included on the form.|NCI|N|
C5205533|A response of an unknown molecular analysis.|NCI|N|
C5205536|A response that molecular abnormalities were detected.|NCI|N|
C5205537|A response that molecular abnormalities were not detected.|NCI|N|
C5205538|A response that it is unknown if molecular abnormalities were detected.|NCI|N|
C5205543|A lesion characterized by the presence of a malignant cellular population.|NCI|N|
C5205546|A lymph node that deviates from usual in terms of size, shape, and internal architecture.|NCI|N|
C5205548|Ovarian serous adenocarcinoma that is not amenable to surgical resection.|NCI|N|
C5205549|Ovarian serous adenocarcinoma that has spread from its original site of growth to another anatomic site.|NCI|N|
C5205550|A non-small cell carcinoma of the lung that has spread from its original site of growth to nearby tissues or lymph nodes.|NCI|N|
C5205551|Meningioma that is classified as 1) a newly diagnosed or recurrent WHO grade III meningioma 2) a recurrent WHO grade II meningioma or 3) a newly diagnosed WHO grade II meningioma with subtotal resection.|NCI|N|
C5205557|A response that myometrial invasion has not been identified.|NCI|N|
C5205581|An adenocarcinoma that arises from the rectum and has metastasized to another anatomic site.|NCI|N|
C5205582|A result that the peritoneal fluid is negative for malignancy.|NCI|N|
C5205583|A result that the peritoneal fluid is atypical.|NCI|N|
C5205584|A result that the peritoneal fluid is positive for malignancy.|NCI|N|
C5205586|A response that the peritoneal fluid was not examined.|NCI|N|
C5205589|The macroscopic satellite nodule is not identified.|NCI|N|
C5205591|An indication that microsatellitosis is absent.|NCI|N|
C5205592|An indication that perineural invasion is absent.|NCI|N|
C5205596|A response that the extranodal tumor extension is absent.|NCI|N|
C5205597|A response that interferon gamma treatment was administered prior to the specimen resection.|NCI|N|
C5205598|A response that interferon gamma treatment was not administered prior to the specimen resection.|NCI|N|
C5205599|A response that it is unknown if interferon gamma treatment was administered prior to the specimen resection.|NCI|N|
C5205600|A response that interferon gamma treatment was administered 90 days prior to the specimen resection.|NCI|N|
C5205601|A response that interferon gamma treatment was not administered 90 days prior to the specimen resection.|NCI|N|
C5205602|A response that it is unknown if interferon gamma treatment was administered 90 days prior to the specimen resection.|NCI|N|
C5205605|The breasts are almost entirely fatty, as defined by the visually estimated content of fibroglandular-density tissue within the breast, based on updated editions of the American College of Radiology''s Breast Imaging Reporting and Data System (BI-RADS).|NCI|N|
C5205606|A laboratory test result indicating the presence of an increased level of the bone resorption marker type I collagen cross-linked N-telopeptide (NTx or NTxI) in a biological sample.|NCI|N|
C5205607|A paraganglioma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5205608|An adrenal gland pheochromocytoma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5205619|Primary peritoneal carcinoma that has a documented response to platinum-based chemotherapy.|NCI|N|
C5205620|Fallopian tube carcinoma that has a documented response to platinum-based chemotherapy.|NCI|N|
C5205621|Chronic graft versus host disease (GvHD) occurring in the skin.|NCI|N|
C5205623|A mutation in a ERK family gene that encodes a constitutively active MAP family serine/threonine-protein kinase and results in aberrant activation of its downstream pathways.|NCI|N|
C5205624|A change in the nucleotide sequence of the CYSLTR2 gene that is associated with increased risk of disease.|NCI|N|
C5205625|A change in the nucleotide sequence of the GNAQ gene that is associated with increased risk of disease.|NCI|N|
C5205626|A molecular genetic abnormality indicating the presence of multiple copies of the NRAS gene.|NCI|N|
C5205628|A change in the nucleotide sequence of the PLCB4 gene.|NCI|N|
C5205629|A change in the nucleotide sequence of the PLCB4 gene that is associated with increased risk of disease.|NCI|N|
C5205639|Primary payer/insurance carrier at the time of initial diagnosis and/or treatment.|NCI|N|
C5205645|The reemergence of anaplastic pleomorphic xanthoastrocytoma after a period of remission.|NCI|N|
C5205646|Anaplastic pleomorphic xanthoastrocytoma that is resistant to treatment.|NCI|N|
C5205651|The reemergence of anaplastic ependymoma after a period of remission.|NCI|N|
C5205652|Anaplastic ependymoma that is resistant to treatment.|NCI|N|
C5205653|The reemergence of anaplastic ganglioglioma after a period of remission.|NCI|N|
C5205654|Anaplastic ganglioglioma that is resistant to treatment.|NCI|N|
C5205655|A liposarcoma that has spread from its original site of growth to nearby tissues or lymph nodes.|NCI|N|
C5205656|A leiomyosarcoma that has spread from its original site of growth to nearby tissues or lymph nodes.|NCI|N|
C5205657|An area of enhancement on MRI that does not belong to a 3D mass or have distinct features of a mass. These lesions are characterized by their distribution, internal enhancement pattern, and symmetry (or lack thereof). (BI-RADS)|NCI|N|
C5205658|An undifferentiated pleomorphic sarcoma that has spread from its original site of growth to nearby tissues or lymph nodes.|NCI|N|
C5205659|A breast carcinoma that has spread from its original site of growth to nearby tissues or lymph nodes.|NCI|N|
C5205677|A report was made erroneously.|NCI|N|
C5205693|A minor salivary gland adenocarcinoma characterized by a cribriform pattern. It often metastasizes to the neck lymph nodes.|NCI|N|
C5205695|Adenocarcinomas that arises from the sinonasal tract. This category includes salivary-type and non-salivary type adenocarcinomas. The latter includes intestinal-type and non-intestinal-type adenocarcinomas.|NCI|N|
C5205696|An adenocarcinoma that arises from the sinonasal tract. It is characterized by the absence of features that resemble intestinal adenocarcinoma.|NCI|N|
C5205697|A sebaceous carcinoma that arises from the head and neck region.|NCI|N|
C5205699|A rare neuroendocrine carcinoma that arises from the head and neck.|NCI|N|
C5205700|A small cell neuroendocrine carcinoma that arises from the head and neck.|NCI|N|
C5205701|A large cell neuroendocrine carcinoma that arises from the head and neck.|NCI|N|
C5205703|A morphologic finding indicating the presence of a tubuloglandular growth pattern in a cellular infiltrate.|NCI|N|
C5205704|An intestinal-type adenocarcinoma that arises from the sinonasal tract. It is characterized by the presence of a tubuloglandular growth pattern.|NCI|N|
C5205705|An intestinal-type adenocarcinoma that arises from the sinonasal tract. It is characterized by the presence of a solid growth pattern.|NCI|N|
C5205709|An intestinal-type adenocarcinoma that arises from the sinonasal tract. It is characterized by the presence of malignant glandular cells with intracytoplasmic mucin.|NCI|N|
C5205710|Extension of a laryngeal tumor beyond the glottic opening into the ventricles and vocal cords.|NCI|N|
C5205712|An intestinal-type adenocarcinoma that arises from the sinonasal tract. It is characterized by the presence of a mixture of growth patterns.|NCI|N|
C5205715|A finding of glottic involvement from a laryngeal tumor with extension of the tumor into the subglottis.|NCI|N|
C5205716|Thyroid gland medullary carcinoma occurring in a dog.|NCI|N|
C5205717|Adenocarcinomas that arise from the seromucinous glands and surface epithelium of the nasal cavity and paranasal sinuses. These adenocarcinomas morphologically resemble the adenocarcinomas that arise from the major and minor salivary glands.|NCI|N|
C5205718|Adenocarcinomas that arise from the nasal cavity and paranasal sinuses and do not resemble salivary gland adenocarcinomas. This category includes intestinal-type and non-intestinal type adenocarcinomas.|NCI|N|
C5205719|A morphologic finding indicating that an adenocarcinoma which arises from a site other than the salivary glands, resembles a salivary gland adenocarcinoma.|NCI|N|
C5205720|Epithelial dysplasia in which there is continuum from mild dysplasia to moderate dysplasia to severe dysplasia before the development of invasive carcinoma.|NCI|N|
C5205721|Epithelial dysplasia in which the dysplastic changes, although limited to the lower basal zone, are so severe that there is a high probability of progression to invasive carcinoma.|NCI|N|
C5205722|Dedifferentiation of a malignant neoplasm.|NCI|N|
C5205723|A malignant solid neoplasm that has metastasized to a limited number of sites- existing in a state intermediate between localized disease and widespread metastatic disease.|NCI|N|
C5205724|A finding of a malignant solid neoplasm that has metastasized to a limited number of sites-existing in a state intermediate between localized disease and widespread metastatic disease.|NCI|N|
C5205726|An intra-acinar and/or intraductal neoplastic epithelial proliferation in the prostate gland that has some features of high-grade prostatic intraepithelial neoplasia but exhibits much greater architectural and/or cytological atypia, typically associated with high-grade, high-stage prostate carcinoma. (WHO 2016)|NCI|N|
C5205727|A rare synovial sarcoma that arises from the prostate gland.|NCI|N|
C5205728|A rare osteosarcoma that arises from the prostate gland.|NCI|N|
C5205729|A rare undifferentiated pleomorphic sarcoma that arises from the prostate gland.|NCI|N|
C5205731|A rare inflammatory myofibroblastic tumor that arises from the prostate gland.|NCI|N|
C5205733|An electrocardiographic finding of two supraventricular QRS complexes followed by a premature supraventricular complex for 3 or more consecutive cycles; a regularly irregular rhythm of normal and abnormal QRS complexes in a 2-1 ratio. (CDISC)|NCI|N|
C5205734|Colorectal adenocarcinoma that has spread from the original site of growth to other anatomic sites.|NCI|N|
C5205741|Primary disease(s) or condition(s) being studied in the trial, or the focus of the study. (clinicaltrials.gov)|NCI|N|
C5205787|An indication that the study subject was removed from the study at the sponsor''s request.|NCI|N|
C5205788|An indication that a study subject has not followed the schedule of activities.|NCI|N|
C5205789|An indication that the subject''s steroid dose is the same as their physiologic replacement dose.|NCI|N|
C5205797|An indication as to whether effusion is present.|NCI|N|
C5205798|An indication as to whether a malignancy is present.|NCI|N|
C5205847|An indication as to whether a measurable tumor is present.|NCI|N|
C5205848|An indication as to whether a non-target tumor, lesion, or site of disease is present.|NCI|N|
C5205849|An indication as to whether a fibrotic lesion is present.|NCI|N|
C5205850|An indication as to whether a cardiovascular lesion is present.|NCI|N|
C5205863|An indication as to whether a certificate of analysis exists for the chemical challenge agent.|NCI|N|
C5205880|Presence of normal hepatocytes in hepatic veins and within the contour of the vessel. (INHAND)|NCI|N|
C5205881|A morphologic finding indicating the presence of astrocytes with intracytoplasmic swelling.|NCI|N|
C5205882|A basophilic tinctorial change in renal tubular epithelium that is often associated with enlarged cells.|NCI|N|
C5205883|Endothelial cell enlargement and other adaptations for injury or aging-induced cell loss and decreased endothelial cell function.|NCI|N|
C5205884|Choristomatous tissue arising from an ectodermal anlage.|NCI|N|
C5205885|A finding indicating the presence of dilatation and diverticulum in a tubular anatomic structure.|NCI|N|
C5205886|A finding indicating the loss of sensory hair cells.|NCI|N|
C5205887|A smaller than normal angle between the sclerocorneal junction and the iris at the periphery of the anterior chamber of the eye, which is the main exit site for aqueous fluid.|NCI|N|
C5205888|Displacement of the otoliths within the inner ear and resulting vestibular dysfunction, usually due to aging, labyrinthine disease or infection, or head trauma.|NCI|N|
C5205889|A congenital abnormality of the eye caused by failure of regression of the fetal eye vasculature.|NCI|N|
C5205890|A morphologic finding indicating the loss of polarity and disorganization of cells affected by cancer.|NCI|N|
C5205891|Activation of abnormal cell growth within the trabecular meshwork of the eye, usually due to injury.|NCI|N|
C5205892|Increase in the amount of pigment.|NCI|N|
C5205893|Decrease in the amount of pigment.|NCI|N|
C5205894|A spontaneous, age-related cardiac disease of rats and mice, characterized by myocardial changes presenting a continuum that begins as focal to multifocal individual cardiomyocyte necrosis attended by a few inflammatory cells progressing at different rates in different animals to include multifocal mononuclear cell inflammation and even fibrosis for larger lesions. (INHAND)|NCI|N|
C5205895|Increase in the amount of dentin.|NCI|N|
C5205896|A finding that generally has features of degeneration and vacuolation.|NCI|N|
C5205897|Increase in the number of glial cells.|NCI|N|
C5205898|Focal to multifocal rosette-like and tubular structures expanding and distorting the inner and outer nuclear layers. (INHAND)|NCI|N|
C5205899|Photoreceptor cell located external to the retinal outer limiting membrane. (INHAND)|NCI|N|
C5205900|A morphologic finding indicating the presence of extracellular clear spaces in a tissue sample.|NCI|N|
C5205901|Arteriole emerging from the central retinal artery, coursing through the posterior vitreous and reconnecting to the inner retina. (INHAND)|NCI|N|
C5205908|The indicator that triggers the administration of study treatment in an efficacy study.|NCI|N|
C5205909|A rare solitary fibrous tumor that arises from the prostate gland.|NCI|N|
C5205910|A rare malignant solitary fibrous tumor that arises from the prostate gland.|NCI|N|
C5205911|A rare hemangioma that arises from the prostate gland.|NCI|N|
C5205912|A rare granular cell tumor that arises from the prostate gland.|NCI|N|
C5205913|The spread of a malignant neoplasm from a primary site to the pelvic cavity.|NCI|N|
C5205914|A carcinoma that arises from the prostate gland and has spread to the pelvic cavity.|NCI|N|
C5205915|A clear cell sarcoma of soft tissue that has spread from the original site of growth to other anatomic sites.|NCI|N|
C5205916|A clear cell sarcoma of soft tissue that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5205917|A carcinoma that arises from the prostate gland and has spread to the lymph nodes.|NCI|N|
C5205918|Fluid volume expansion that occurs outside of the vascular system, which may be characterized by peripheral edema, pleural effusion, ascites, and pericardial effusion.|NCI|N|
C5205930|A rare diffuse large B-cell lymphoma that arises from the prostate gland.|NCI|N|
C5205931|A rare follicular lymphoma that arises from the prostate gland.|NCI|N|
C5205932|A rare mantle cell lymphoma that arises from the prostate gland.|NCI|N|
C5205933|A rare small lymphocytic lymphoma that arises from the prostate gland.|NCI|N|
C5205934|A rare cystadenoma affecting the prostate gland. It is characterized by the presence of multilocular prostatic cysts.|NCI|N|
C5205935|A rare Wilms tumor affecting the prostate gland.|NCI|N|
C5205936|A rare extrarenal rhabdoid tumor affecting the prostate gland.|NCI|N|
C5205937|A metastatic, castration-resistant prostate carcinoma that is composed of fibroblast growth factor-driven malignant cells.|NCI|N|
C5205938|An exceptionally rare melanoma arising from the prostate gland.|NCI|N|
C5205939|A paraganglioma that affects the prostate gland.|NCI|N|
C5205940|A finding indicating increases in fibroblast growth factor (FGF) activity, activation of FGF-dependent pathways and proliferation of cells in a cellular sample.|NCI|N|
C5205961|An extremely rare squamous cell carcinoma that arises from the seminal vesicle. Glandular formation and mucin secretion are absent.|NCI|N|
C5205963|A rare biphasic neoplasm that arises from the seminal vesicle. It is characterized by the presence of stromal and benign epithelial components. Rarely, the stromal component may display atypia and mitotic activity and the tumor may behave in a malignant clinical course.|NCI|N|
C5205964|A mesenchymal neoplasm that arises from the seminal vesicle.|NCI|N|
C5205965|A leiomyoma that arises from the seminal vesicle.|NCI|N|
C5205966|A schwannoma that affects the seminal vesicle.|NCI|N|
C5205967|An extramammary myofibroblastoma that affects the seminal vesicle.|NCI|N|
C5205968|A rare leiomyosarcoma that affects the seminal vesicle.|NCI|N|
C5205969|An extremely rare angiosarcoma that affects the seminal vesicle.|NCI|N|
C5205970|The score in a prognostic index based on: age (> 60 years); increased serum LDH; ECOG Performance status > 1; clinical stage III or IV.|NCI|N|
C5205971|A score of 0 or 1 on the International Prognostic Index indicating that an individual has a low risk of progression of non-Hodgkin lymphoma and a 5 year survival of 73%.|NCI|N|
C5205973|A score of 4 or 5 on the International Prognostic Index indicating that an individual has a high risk of progression of non-Hodgkin lymphoma and a 5 year survival of 32%.|NCI|N|
C5206084|Baseline Dyspnea Index (BDI) Baseline focal score.|NCI|N|
C5206085|A refractory thyroid carcinoma that is becoming more advanced or widespread.|NCI|N|
C5206096|A risk group associated with a total score of 0 on the Prognostic Index for Peripheral T-cell Lymphoma indicating that an individual has a low risk.|NCI|N|
C5206097|A risk group associated with a total score of 1 on the Prognostic Index for Peripheral T-cell Lymphoma indicating that an individual has a low-intermediate risk.|NCI|N|
C5206099|A risk group associated with a total score of 2 on the Prognostic Index for Peripheral T-cell Lymphoma indicating that an individual has a intermediate-high risk.|NCI|N|
C5206100|A risk group associated with a total score of 3 or 4 on the Prognostic Index for Peripheral T-cell Lymphoma indicating that an individual has a high risk.|NCI|N|
C5206108|A risk group based on: age (> 60 years); increased serum LDH; ECOG Performance status > 1; clinical stage III or IV.|NCI|N|
C5206109|A risk group associated with a total score of 2 on the International Prognostic Index indicating that an individual has a 5 year survival prognosis of 69%.|NCI|N|
C5206110|A risk group associated with a total score of 3 on the International Prognostic Index indicating that an individual has a 5 year survival prognosis of 46%.|NCI|N|
C5206129|BRCA-associated breast carcinoma that has spread to another anatomic site.|NCI|N|
C5206136|A rare childhood malignant liver neoplasm with overlapping features of hepatoblastoma and hepatocellular carcinoma.|NCI|N|
C5206184|An indication that any reagents used in the preparation of cleaved peptides for physicochemical analysis were not specified.|NCI|N|
C5206186|Adenocarcinoma that arises from the esophagus and is confined entirely to the mucosa.|NCI|N|
C5206249|Pancreatic adenocarcinoma that is resistant to treatment.|NCI|N|
C5206250|Pancreatic adenocarcinoma that is not amenable to surgical resection.|NCI|N|
C5206274|A change in the nucleotide sequence of the ATM gene that either inhibits expression of the serine-protein kinase ATM protein or results in the translation of an inactive serine-protein kinase ATM protein.|NCI|N|
C5206275|A change in the nucleotide sequence of the FBXW7 gene that is associated with increased risk of disease.|NCI|N|
C5206278|The amount of carcinoembryonic antigen present in a serum sample is elevated.|NCI|N|
C5206279|The amount of carcinoembryonic antigen present in a serum sample is normal.|NCI|N|
C5206280|The amount of carcinoembryonic antigen present in a serum sample is low.|NCI|N|
C5206281|The amount of cancer antigen 19-9 present in a serum sample is elevated.|NCI|N|
C5206282|The amount of cancer antigen 19-9 present in a serum sample is normal.|NCI|N|
C5206283|The amount of cancer antigen 19-9 present in a serum sample is low.|NCI|N|
C5206331|A lower than average level of lactate dehydrogenase in a sample.|NCI|N|
C5206332|A higher than average level of calcium in a sample.|NCI|N|
C5206333|A lower than average level of calcium in a sample.|NCI|N|
C5206334|A higher than average level of hemoglobin in a sample.|NCI|N|
C5206335|A higher than average level of leukocytes in a sample.|NCI|N|
C5206336|A lower than average level of leukocytes in a sample.|NCI|N|
C5206338|Esophageal adenocarcinoma that has spread from its original site of growth to nearby tissues or lymph nodes and is not amenable to surgical resection.|NCI|N|
C5206339|Gastroesophageal junction adenocarcinoma that has spread from its original site of growth to nearby tissues or lymph nodes and is not amenable to surgical resection.|NCI|N|
C5206341|A colon adenocarcinoma that is not amenable to surgical resection.|NCI|N|
C5206342|A rectal adenocarcinoma that is not amenable to surgical resection.|NCI|N|
C5206356|The outcome of the functional test assessment as originally received or collected.|NCI|N|
C5206373|Colon adenocarcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5206374|Pancreatic adenocarcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5206375|Colon adenocarcinoma that is resistant to treatment.|NCI|N|
C5206376|Rectal carcinoma that is resistant to treatment.|NCI|N|
C5206377|Rectal adenocarcinoma that is resistant to treatment.|NCI|N|
C5206378|Lung non-small cell carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5206400|A breast carcinoma that has spread from its original site of growth to nearby tissues or lymph nodes and is not amenable to surgical resection.|NCI|N|
C5206401|A change in the nucleotide sequence of the BRCA2 gene that originates in non-germline cells.|NCI|N|
C5206402|A change in the nucleotide sequence of the BRCA1 gene that originates in non-germline cells.|NCI|N|
C5206406|Cellular proliferation of hematopoietic cells where a substantial proportion of the cells is derived from a single hematopoietic stem cell lineage.|NCI|N|
C5206407|A finding indicating the presence of a monoclonal population of hematopoietic stem and progenitor cells in a tissue sample.|NCI|N|
C5206410|A sarcoma of soft tissue that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5206428|The reference result for continuous respiratory measurements in original units.|NCI|N|
C5206431|Any diagnosis indicating the presence of metastatic disease.|NCI|N|
C5206435|The carcinoma is strictly confined to the cervix (extension to the uterine corpus should be disregarded). (FIGO 2018)|NCI|N|
C5206436|Invasive cervical carcinoma that can be diagnosed only by microscopy, with maximum depth of invasion less than 5 mm. (FIGO 2018)|NCI|N|
C5206437|Cervical carcinoma with measured stromal invasion less than 3 mm in depth. (FIGO 2018)|NCI|N|
C5206438|Cervical carcinoma with measured stromal invasion equal or more than 3 mm and less than 5 mm in depth. (FIGO 2018)|NCI|N|
C5206439|Invasive cervical carcinoma with measured deepest invasion equal or more than 5 mm (greater than Stage IA), lesion limited to the cervix uteri. (FIGO 2018)|NCI|N|
C5206440|Invasive cervical carcinoma with equal or more than 5 mm depth of stromal invasion, and less than 2 cm in greatest dimension. (FIGO 2018)|NCI|N|
C5206441|Invasive cervical carcinoma equal or more than 2 cm and less than 4 cm in greatest dimension. (FIGO 2018)|NCI|N|
C5206442|Invasive cervical carcinoma equal or more than 4 cm in greatest dimension. (FIGO 2018)|NCI|N|
C5206443|The cervical carcinoma invades beyond the uterus, but has not extended onto the lower third of the vagina or to the pelvic wall. (FIGO 2018)|NCI|N|
C5206444|Cervical carcinoma limited to the upper two-thirds of the vagina without parametrial involvement. (FIGO 2018)|NCI|N|
C5206445|Cervical carcinoma limited to the upper two-thirds of the vagina without parametrial involvement, less than 4 cm in greatest dimension. (FIGO 2018)|NCI|N|
C5206446|Cervical carcinoma limited to the upper two-thirds of the vagina without parametrial involvement, equal or more than 4 cm in greatest dimension. (FIGO 2018)|NCI|N|
C5206447|Cervical carcinoma with parametrial involvement but not up to the pelvic wall. (FIGO 2018)|NCI|N|
C5206448|Cervical carcinoma that involves the lower third of the vagina and/or extends to the pelvic wall and/or causes hydronephrosis or nonfunctioning kidney and/or involves pelvic and/or para-aortic lymph nodes. (FIGO 2018)|NCI|N|
C5206449|Cervical carcinoma that involves the lower third of the vagina, with no extension to the pelvic wall. (FIGO 2018)|NCI|N|
C5206450|Cervical carcinoma with extension to the pelvic wall and/or hydronephrosis or nonfunctioning kidney (unless known to be due to another cause). (FIGO 2018)|NCI|N|
C5206451|Cervical carcinoma with involvement of pelvic and/or para-aortic lymph nodes, irrespective of tumor size and extent (with r and p notations). (FIGO 2018)|NCI|N|
C5206452|Cervical carcinoma with pelvic lymph node metastasis only. (FIGO 2018)|NCI|N|
C5206453|Cervical carcinoma with para-aortic lymph node metastasis. (FIGO 2018)|NCI|N|
C5206454|The cervical carcinoma has extended beyond the true pelvis or has involved (biopsy proven) the mucosa of the bladder or rectum. (A bullous edema, as such, does not permit a case to be allotted to Stage IV). (FIGO 2018)|NCI|N|
C5206455|The cervical carcinoma has spread to adjacent pelvic organs. (FIGO 2018)|NCI|N|
C5206456|The cervical carcinoma has spread to distant organs. (FIGO 2018)|NCI|N|
C5206463|A malignant neoplasm that arises in the female reproductive system and has spread from its original site of growth to other anatomic sites.|NCI|N|
C5206464|A malignant neoplasm that arises in the digestive system and has spread from its original site of growth to other anatomic sites.|NCI|N|
C5206465|A colorectal carcinoma characterized by a high mutational rate caused by DNA mismatch repair deficiency or POLE/POLD1 driver mutations.|NCI|N|
C5206466|Colorectal carcinoma that is amenable to surgical resection.|NCI|N|
C5206467|A molecular finding indicating that the mutation rate is higher than 10 mutations per megabase (Mb) in a tissue sample.|NCI|N|
C5206478|A colorectal adenocarcinoma that has spread from its original site of growth to nearby tissues or lymph nodes and is not amenable to surgical resection.|NCI|N|
C5206479|A colon adenocarcinoma that has spread from its original site of growth to nearby tissues or lymph nodes and is not amenable to surgical resection.|NCI|N|
C5206480|A rectal adenocarcinoma that has spread from its original site of growth to nearby tissues or lymph nodes and is not amenable to surgical resection.|NCI|N|
C5206481|Colorectal mucinous adenocarcinoma that has spread from the original site of growth to other anatomic sites.|NCI|N|
C5206482|Carcinoma of the appendix that has spread from the original site of growth to other anatomic sites.|NCI|N|
C5206483|A nucleotide substitution at position 3749 of the coding sequence of the MET gene where thymine has been mutated to cytosine.|NCI|N|
C5206484|A change in the amino acid residue at position 1250 in the hepatocyte growth factor receptor protein where methionine has been replaced by threonine.|NCI|N|
C5206485|A change in the amino acid residue at position 1236 in the hepatocyte growth factor receptor protein where serine has been replaced by arginine.|NCI|N|
C5206486|A nucleotide substitution at position 3688 of the coding sequence of the MET gene where thymine has been mutated to cytosine.|NCI|N|
C5206487|A change in the amino acid residue at position 1230 in the hepatocyte growth factor receptor protein where tyrosine has been replaced by histdine.|NCI|N|
C5206488|A nucleotide substitution at position 3689 of the coding sequence of the MET gene where adenine has been mutated to guanine.|NCI|N|
C5206489|A change in the amino acid residue at position 1230 in the hepatocyte growth factor receptor protein where tyrosine has been replaced by cysteine.|NCI|N|
C5206490|A nucleotide substitution at position 3682 of the coding sequence of the MET gene where guanine has been mutated to adenine.|NCI|N|
C5206491|A change in the amino acid residue at position 1228 in the hepatocyte growth factor receptor protein where aspartic acid has been replaced by asparagine.|NCI|N|
C5206492|A nucleotide substitution at position 3613 of the coding sequence of the MET gene where thymine has been mutated to guanine.|NCI|N|
C5206493|A change in the amino acid residue at position 1205 in the hepatocyte growth factor receptor protein where leucine has been replaced by valine.|NCI|N|
C5206494|A nucleotide substitution at position 3598 of the coding sequence of the MET gene where thymine has been mutated to adenine.|NCI|N|
C5206495|A change in the amino acid residue at position 1200 in the hepatocyte growth factor receptor protein where phenylalanine has been replaced by isoleucine.|NCI|N|
C5206496|A nucleotide substitution at position 3280 of the coding sequence of the MET gene where cytosine has been mutated to thymine.|NCI|N|
C5206497|A nucleotide substitution at position 3274 of the coding sequence of the MET gene where guanine has been mutated to adenine.|NCI|N|
C5206498|A change in the amino acid residue at position 1092 in the hepatocyte growth factor receptor protein where valine has been replaced by isoleucine.|NCI|N|
C5206499|A nucleotide substitution at position 3208 of the coding sequence of the MET gene where guanine has been mutated to adenine.|NCI|N|
C5206500|A change in the amino acid residue at position 1070 in the hepatocyte growth factor receptor protein where valine has been replaced by methionine.|NCI|N|
C5206501|A nucleotide substitution at position 3209 of the coding sequence of the MET gene where thymine has been mutated to guanine.|NCI|N|
C5206503|A change in the amino acid residue at position 1070 in the hepatocyte growth factor receptor protein where valine has been replaced by glycine.|NCI|N|
C5206504|A nucleotide substitution at position 3209 of the coding sequence of the MET gene where thymine has been mutated to adenine.|NCI|N|
C5206505|A change in the amino acid residue at position 1070 in the hepatocyte growth factor receptor protein where valine has been replaced by glutamic acid.|NCI|N|
C5206506|A nucleotide substitution at position 1510 of the coding sequence of the MET gene where guanine has been mutated to cytosine.|NCI|N|
C5206507|A change in the amino acid residue at position 504 in the hepatocyte growth factor receptor protein where valine has been replaced by leucine.|NCI|N|
C5206508|A nucleotide substitution at position 1915 of the coding sequence of the MET gene where adenine has been mutated to cytosine.|NCI|N|
C5206509|A change in the amino acid residue at position 639 in the hepatocyte growth factor receptor protein where isoleucine has been replaced by leucine.|NCI|N|
C5206510|Sarcoma that is caused by Epstein-Barr virus infection.|NCI|N|
C5206511|Leiomyosarcoma that is caused by Epstein-Barr virus infection.|NCI|N|
C5206521|An indication or description that a particular adverse event happened in the past.|NCI|N|
C5206522|An indication or description that a particular disease response or clinical classification happened in the past.|NCI|N|
C5206523|An indication or description that a particular disease response or clinical classification was obtained in the past.|NCI|N|
C5206524|An indication or description that a particular functional test happened in the past.|NCI|N|
C5206525|An indication or description that a particular healthcare encounter event happened in the past.|NCI|N|
C5206526|An indication or description that a particular microbiology susceptibility event happened in the past.|NCI|N|
C5206527|An indication or description that a particular agent administration event happened in the past.|NCI|N|
C5206528|An indication or description that a particular substance use event happened in the past.|NCI|N|
C5206529|An indication or description that assessment of disease response or clinical classification of the disease is continuing.|NCI|N|
C5206530|An indication or description that a microbiology susceptibility assessment is continuing.|NCI|N|
C5206531|An indication or description that a procedure agent administration is continuing.|NCI|N|
C5206532|An indication or description that substance usage is continuing.|NCI|N|
C5206556|A nucleotide substitution at position 542 of the coding sequence of the TP53 gene where guanine has been mutated to adenine.|NCI|N|
C5206557|A change in the amino acid residue at position 181 in the cellular tumor antigen p53 protein where arginine has been replaced by histidine.|NCI|N|
C5206558|The reemergence of myelofibrosis after a period of remission.|NCI|N|
C5206559|Myelofibrosis that is resistant to treatment.|NCI|N|
C5206560|The reemergence of colorectal adenocarcinoma after a period of remission.|NCI|N|
C5206561|A change in the nucleotide sequence of the COL7A1 gene.|NCI|N|
C5206563|Hepatocellular carcinoma that is resistant to treatment.|NCI|N|
C5206564|The reemergence of high grade B-cell lymphoma with MYC, BCL2, and BCL6 rearrangements after a period of remission.|NCI|N|
C5206566|High grade B-cell lymphoma with MYC, BCL2, and BCL6 rearrangements that is resistant to treatment.|NCI|N|
C5206568|Acute myeloid leukemia with a risk of relapse or refractoriness between favorable and high risk acute myeloid leukemia, and cytogenetic and molecular genetic abnormalities that categorize it as intermediate risk acute myeloid leukemia.|NCI|N|
C5206569|The reemergence of high risk acute myeloid leukemia after a period of remission.|NCI|N|
C5206570|The reemergence of intermediate risk acute myeloid leukemia after a period of remission.|NCI|N|
C5206572|A carcinoid tumor or neuroendocrine carcinoma arising from the thymus gland.|NCI|N|
C5206573|A thymic neuroendocrine neoplasm that has spread from its original site of growth to another anatomic site.|NCI|N|
C5206577|A diffuse large B-cell lymphoma that arises from the testis. It predominantly affects older men. Patients usually present with a unilateral hard painless mass. Bilateral masses have been described in a minority of patients.|NCI|N|
C5206578|A nasal type extranodal NK/T-cell lymphoma affecting the testis. Patients usually present with unilateral testicular enlargement. Bilateral involvement is rare. The prognosis is poor.|NCI|N|
C5206579|A rare myeloid sarcoma that arises from the testis. At presentation the involvement is usually unilateral.|NCI|N|
C5206580|A rare plasmacytoma that arises in the testis. At presentation the involvement is usually unilateral.|NCI|N|
C5206582|Colorectal carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5206583|An adenomatoid tumor arising from the paratesticular structures. It is the most common tumor of the paratesticular region. The tail of the epididymis is the most common site of involvement.|NCI|N|
C5206585|A change in the nucleotide sequence of the EMSY gene.|NCI|N|
C5206590|A benign cystadenoma that arises from the epididymis.|NCI|N|
C5206591|An extremely rare squamous cell carcinoma that arises from the paratesticular structures.|NCI|N|
C5206592|A rare neoplasm that arises from the epididymis and is characterized by the presence of a mixture of melanin-containing epithelial cells and smaller neuroblast-like cells. It usually occurs in infants and has a benign clinical course.|NCI|N|
C5206593|A rare Wilms tumor that arises from the paratesticular structures.|NCI|N|
C5206594|An extremely rare paraganglioma that arises from the paratesticular structures.|NCI|N|
C5206595|A mesenchymal neoplasm that arises from the paratesticular region.|NCI|N|
C5206596|A liposarcoma that arises from the paratesticular region.|NCI|N|
C5206597|A leiomyoma that arises from the paratesticular region.|NCI|N|
C5206598|A leiomyosarcoma that arises from the paratesticular region.|NCI|N|
C5206599|A rhabdomyoma that arises from the paratesticular region.|NCI|N|
C5206600|A rhabdomyosarcoma that arises from the paratesticular region.|NCI|N|
C5206601|A cellular angiofibroma that arises from the paratesticular region.|NCI|N|
C5206602|An extramammary myofibroblastoma that arises from the paratesticular region.|NCI|N|
C5206603|A locally infiltrating, non-metastasizing angiomyxoma that arises from the paratesticular region.|NCI|N|
C5206604|A schwannoma that arises from the paratesticular region.|NCI|N|
C5206605|A capillary or cavernous hemangioma that arises from the paratesticular region.|NCI|N|
C5206615|A change in the nucleotide sequence of the MLL (KMT2A) gene.|NCI|N|
C5206616|A change in the nucleotide sequence of the GNA11 gene that is associated with increased risk of disease.|NCI|N|
C5206617|A molecular abnormality indicating the absence of MSH2 protein.|NCI|N|
C5206621|A molecular genetic abnormality indicating the presence of a mutation in exon 73 of the COL7A1 gene.|NCI|N|
C5206626|Direct observation of a colon polyp upon examination, during surgical procedure, or colonoscopy.|NCI|N|
C5206628|An invasive adenocarcinoma that arises in an adenomatous polyp.|NCI|N|
C5206632|Gastroesophageal junction adenocarcinoma that does not respond to treatment.|NCI|N|
C5206633|Intraepithelial neoplasia of the penis that is not caused by human papillomavirus infection. It usually presents as a solitary white or pink macule or plaque that may be slightly elevated. A background of long-standing lichen sclerosus is often present. It is characterized by a thickened epithelium, subtle abnormal cellular maturation, and atypical basal layer cells. Parakeratosis is common. (WHO 2016)|NCI|N|
C5206635|Intraepithelial neoplasia of the penis caused by human papillomavirus infection.|NCI|N|
C5206636|Intraepithelial neoplasia of the penis characterized by full-thickness replacement of the squamous epithelium by immature, small, monotonous, basophilic cells. The cells have round to oval nuclei, inconspicuous nucleoli, and scant cytoplasm. Apoptosis and mitotic figures are prominent. (WHO 2016)|NCI|N|
C5206637|Intraepithelial neoplasia of the penis characterized by a slightly spiking papillomatous surface with atypical parakeratosis. There is prominent cellular pleomorphism, koilocytosis, and mitoses. Unlike in basaloid penile intraepithelial neoplasia, there is squamous maturation. (WHO 2016)|NCI|N|
C5206639|Intraepithelial neoplasia of the penis characterized by the presence of a variable mixture of warty and basaloid cells. (WHO 2016)|NCI|N|
C5206640|A lymphoma that arises from penile skin, subcutis, corpora cavernosa, and spongiosum. Diffuse large B-cell lymphoma is the most common primary penile lymphoma. (WHO 2016)|NCI|N|
C5206646|An extremely rare carcinoma arising from the peritoneum. It is characterized by the presence of a diffuse malignant infiltrate that is composed of epithelial cells without evidence of glandular or squamous differentiation.|NCI|N|
C5206648|An extremely rare transitional cell carcinoma that arises from the peritoneum.|NCI|N|
C5206650|An extremely rare adenocarcinoma arising from the peritoneum. It is composed of malignant glandular epithelium containing clear cells.|NCI|N|
C5206653|Head and neck carcinoma that is confined to the site in which it initially manifested without evidence of spread to other anatomic sites.|NCI|N|
C5206654|Lung carcinoma that is confined to the site in which it initially manifested without evidence of spread to other anatomic sites.|NCI|N|
C5206655|A Merkel cell carcinoma that has spread from the original site of growth to another anatomic site.|NCI|N|
C5206657|A rare mesenchymal neoplasm that arises from the penis.|NCI|N|
C5206661|A rare angiosarcoma that affects the penis.|NCI|N|
C5206662|A hemangioma that occurs in the skin of the penis.|NCI|N|
C5206663|An epithelioid hemangioendothelioma that occurs in the penis.|NCI|N|
C5206664|A glomus tumor that occurs in the penis.|NCI|N|
C5206665|A leiomyoma that occurs in the penis.|NCI|N|
C5206666|A rare malignant peripheral nerve sheath tumor that occurs in the penis.|NCI|N|
C5206667|A leiomyosarcoma that occurs in the penis.|NCI|N|
C5206668|A schwannoma that occurs in the penis.|NCI|N|
C5206669|A neurofibroma that occurs in the penis.|NCI|N|
C5206670|A rhabdomyosarcoma that occurs in the penis. It usually affects young children. Embryonal rhabdomyosarcoma is the most common type.|NCI|N|
C5206671|A rare undifferentiated pleomorphic sarcoma that occurs in the penis.|NCI|N|
C5206672|A rare benign mesenchymal neoplasm that occurs in the glans and corpora of the penis. It is characterized by the proliferation of spindle-shaped myofibroblasts in the intravascular spaces.|NCI|N|
C5206673|A morphologic finding indicating the proliferation of spindle-shaped myofibroblasts within vascular spaces in a tissue sample.|NCI|N|
C5206674|A lymphangioma that occurs in the skin of the penis.|NCI|N|
C5206675|The spread of a malignant neoplasm to the head and neck. This may be from a primary head and neck malignant neoplasm, or from a malignant neoplasm at a distant site.|NCI|N|
C5206676|A carcinoma that has metastasized to the head and neck region from an unknown primary anatomic site.|NCI|N|
C5206679|The need for additional surgery for a new loco-regional tumor event was not evaluated.|NCI|N|
C5206681|A colorectal carcinoma that is not amenable to surgical resection.|NCI|N|
C5206683|A fibrolamellar carcinoma that is not amenable to surgical resection.|NCI|N|
C5206684|The need for additional surgery for a new tumor event was not evaluated.|NCI|N|
C5206685|A response that paraneoplastic syndrome is present.|NCI|N|
C5206686|A response that lymphatic invasion is present in a specimen.|NCI|N|
C5206687|A response indicating the presence of tumor cell necrosis.|NCI|N|
C5206688|An indication of the presence of tumor infiltrating lymphocytes.|NCI|N|
C5206690|The most common form of autoimmune hemolytic anemia, in which the autoantibodies react with red blood cells at temperatures greater than or equal to 37 degrees Celsius.|NCI|N|
C5206691|The reemergence of adamantinomatous craniopharyngioma after a period of remission.|NCI|N|
C5206693|A finding indicating the tumor laterality is unknown.|NCI|N|
C5206694|A ureter urothelial carcinoma that has spread from its original site of growth to nearby tissues or lymph nodes.|NCI|N|
C5206695|A renal pelvis urothelial carcinoma that has spread from its original site of growth to nearby tissues or lymph nodes.|NCI|N|
C5206696|A bladder urothelial carcinoma that has spread from its original site of growth to nearby tissues or lymph nodes.|NCI|N|
C5206697|A urethral urothelial carcinoma that has spread from its original site of growth to nearby tissues or lymph nodes.|NCI|N|
C5206715|Lung non-squamous non-small cell carcinoma that is not amenable to surgical resection.|NCI|N|
C5206719|Breast carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5206721|The spread of a malignant tumor in multiple distant anatomic sites.|NCI|N|
C5206722|Squamous cell carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5206724|Osteosarcoma that is amenable to surgical resection.|NCI|N|
C5206744|A severe form of chronic Epstein-Barr virus infection characterized by continued intermittent fever, lymphadenopathy, thrombocytopenia, lymphocytopenia, neutropenia, polyclonal gammopathy, and greatly elevated titers for antibodies to EBV-related antigens.|NCI|N|
C5206745|The reemergence of systemic anaplastic large cell lymphoma after a period of remission.|NCI|N|
C5206746|Systemic anaplastic large cell lymphoma that does not respond to treatment.|NCI|N|
C5206752|An indication that expression of EPCAM was not detected in the nuclei of cells in a sample.|NCI|N|
C5206753|An indication that expression of MSH3 was not detected in the nuclei of cells in a sample.|NCI|N|
C5206756|The reemergence of a childhood malignant neoplasm after a period of remission.|NCI|N|
C5206757|A childhood malignant neoplasm that does not respond to treatment.|NCI|N|
C5206759|A thyroid gland medullary carcinoma that has spread from the original site of growth to another anatomic site.|NCI|N|
C5206760|A response indicating there have been no medications 30 days prior to specimen collection.|NCI|N|
C5206768|Urinary system carcinoma that does not respond to treatment.|NCI|N|
C5206769|A chordoma that does not respond to treatment.|NCI|N|
C5206770|An epithelioid sarcoma that does not respond to treatment.|NCI|N|
C5206771|An atypical teratoid/rhabdoid tumor that does not respond to treatment.|NCI|N|
C5206772|The reemergence of an epithelioid malignant peripheral nerve sheath tumor after a period of remission.|NCI|N|
C5206773|An epithelioid malignant peripheral nerve sheath tumor that does not respond to treatment.|NCI|N|
C5206774|The reemergence of kidney medullary carcinoma after a period of remission.|NCI|N|
C5206775|A kidney medullary carcinoma that does not respond to treatment.|NCI|N|
C5206776|The reemergence of dedifferentiated chordoma after a period of remission.|NCI|N|
C5206777|A dedifferentiated chordoma that does not respond to treatment.|NCI|N|
C5206778|The reemergence of a rhabdoid tumor of the kidney after a period of remission.|NCI|N|
C5206779|A rhabdoid tumor of the kidney that does not respond to treatment.|NCI|N|
C5206780|The reemergence of a malignant myoepithelioma after a period of remission.|NCI|N|
C5206781|A malignant myoepithelioma that does not respond to treatment.|NCI|N|
C5206782|A finding indicating that an acute myeloid leukemia does not have the characteristics of M3 acute myeloid leukemia, according to the FAB classification criteria.|NCI|N|
C5206783|Acute myeloid leukemia with an intermediate risk of relapse or refractoriness that has a normal karyotype.|NCI|N|
C5206784|A classification system that refers to breast capsular contraction proposed by J.L. Baker Jr., et al.|NCI|N|
C5206785|Breast is soft and appears natural in size and shape.|NCI|N|
C5206786|Minimal contracture; there is some firmness, but the breast appears natural.|NCI|N|
C5206787|Severe contracture; the breast is hard, painful to touch, and appears abnormal.|NCI|N|
C5206789|A change in the nucleotide sequence of the STK11 gene that is associated with increased risk of disease.|NCI|N|
C5206790|A change in the nucleotide sequence of the SMARCA4 gene that is associated with increased risk of disease.|NCI|N|
C5206791|A change in the nucleotide sequence of the CDH1 gene that is associated with increased risk of disease.|NCI|N|
C5206792|A cytomegalovirus infection that is resistant to treatment.|NCI|N|
C5206794|Biliary tract carcinoma that is resistant to treatment.|NCI|N|
C5206795|A cholangiocarcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5206796|Gallbladder carcinoma that is resistant to treatment.|NCI|N|
C5206797|A gallbladder carcinoma that has spread from the original site of growth to other anatomic sites.|NCI|N|
C5206798|Gallbladder carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5206799|The effects of cancer and its treatments on cognitive processes.|NCI|N|
C5206801|A head and neck squamous cell carcinoma that has spread from its original site of growth to nearby tissues or lymph nodes.|NCI|N|
C5206802|Gastroesophageal junction adenocarcinoma that has spread to nearby tissues or lymph nodes.|NCI|N|
C5206803|A papillary renal cell carcinoma that has spread from the original site of growth to another anatomic site.|NCI|N|
C5206804|A papillary renal cell carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5206805|A bone sarcoma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5206806|A myxoid liposarcoma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5206809|A colorectal carcinoma that has spread from its original site of growth to nearby tissues or lymph nodes.|NCI|N|
C5206810|A gastric adenocarcinoma that has spread from its original site of growth to nearby tissues or lymph nodes.|NCI|N|
C5206811|An immunophenotypic finding indicating the expression of ASPH gene in the neoplastic cells of a tumor sample.|NCI|N|
C5206812|A head and neck squamous cell carcinoma in which the malignant cells are positive for ASPH gene.|NCI|N|
C5206813|A gastric carcinoma that has spread from its original site of growth to nearby tissues or lymph nodes.|NCI|N|
C5206816|An acute myeloid leukemia with trisomy 8. Trisomy 8 is one of the most frequent occurring cytogenetic abnormalities in acute myeloid leukemia. It is grouped as intermediate risk in cytogenetic classifications of acute myeloid leukemia.|NCI|N|
C5206817|A B-cell acute lymphoblastic leukemia associated with t(4;11)(q21;23). This translocation leads to the generation of the fusion gene MLL-AF4.|NCI|N|
C5206819|A malignant neoplasm that arises in the colon or rectum that has spread from its original site of growth to other anatomic sites.|NCI|N|
C5206820|Breast carcinoma that is confined to the site in which it initially manifested without evidence of spread to other anatomic sites.|NCI|N|
C5206823|Merkel cell carcinoma that is not amenable to surgical resection.|NCI|N|
C5206824|Oropharyngeal squamous cell carcinoma that is amenable to surgical resection.|NCI|N|
C5206833|A benign or malignant neoplasm that affects the parapharyngeal space.|NCI|N|
C5206834|A neoplasm that arises from the parapharyngeal space and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C5206835|A primary or metastatic malignant neoplasm that affects the parapharyngeal space.|NCI|N|
C5206836|A benign or malignant neoplasm that affects the retropharyngeal space.|NCI|N|
C5206837|A neoplasm that arises from the retropharyngeal space and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C5206838|A primary or metastatic malignant neoplasm that affects the retropharyngeal space.|NCI|N|
C5206840|Oropharyngeal squamous cell carcinoma that is not amenable to surgical resection.|NCI|N|
C5206841|An individual was pregnant at the time a vaccination was administered.|NCI|N|
C5206842|A malignant digestive system neoplasm that is not amenable to surgical resection.|NCI|N|
C5206854|Paranasal sinus squamous cell carcinoma that has spread from its original site of growth to another anatomic site.|NCI|N|
C5206858|An oropharyngeal squamous cell carcinoma that has spread from its original site of growth to nearby tissues or lymph nodes.|NCI|N|
C5206859|Nasal cavity and/or paranasal sinus squamous cell carcinoma that has spread from its original site of growth to another anatomic site.|NCI|N|
C5206861|Neurotoxicity associated with immune effector cell therapy. It may be characterized by aphasia, altered level of consciousness, motor weakness, seizures, and cerebral edema.|NCI|N|
C5206866|Malignant mesothelioma that arises from the peritoneum. It is characterized by the presence of cells with epithelioid morphology. The epithelioid cells usually have eosinophilic cytoplasm, bland nuclei, and form tubulopapillary, microglandular, or sheet-like patterns.|NCI|N|
C5206867|Cutaneous squamous cell carcinoma of the head and neck that is amenable to surgical resection.|NCI|N|
C5206868|An extremely rare tumor that arises from the testis. It is characterized by the proliferation of epithelioid cells with signet ring appearance separated by fibrous tissue into trabeculae and nests. The histologic features are bland and there is no mucin production. Mutations of CTNNB1 gene have been identified in the reported cases. It is considered a special type of sex cord-stromal tumor. All reported cases had a benign clinical course without metastases.|NCI|N|
C5206869|A carcinoma characterized by the presence of a cribriform architectural pattern. There is no evidence of surrounding stromal invasion by the malignant cells.|NCI|N|
C5206872|A finding of diffuse spread of neoplastic cells to the leptomeninges that may be characterized by thin, linear leptomeningeal enhancement in the central nervous system on MRI.|NCI|N|
C5206873|A finding of diffuse spread of neoplastic cells to the leptomeninges that may be characterized by focal nodular enhancement on the dural, pial, or meningeal surface on MRI.|NCI|N|
C5206878|A meningioma that is not amenable to surgical resection.|NCI|N|
C5206881|A finding indicating that the expression and activity of ATM in a tumor sample is detected at or near normal levels.|NCI|N|
C5206884|A molecular abnormality indicating the absence of PMS2 protein.|NCI|N|
C5206885|A molecular abnormality indicating the absence of MSH3 protein.|NCI|N|
C5206886|A molecular abnormality indicating the absence of EPCAM protein.|NCI|N|
C5206887|A molecular abnormality indicating the absence of MSH6 protein.|NCI|N|
C5206888|A molecular abnormality indicating the absence of MLH1 protein.|NCI|N|
C5206890|A molecular genetic abnormality indicating the presence of secondary mutations in exon 20 of the EGFR gene that result in the translation of an epidermal growth factor receptor protein that is resistant to tyrosine kinase inhibitor therapies.|NCI|N|
C5206891|A chromosomal translocation that involves the chromosomes 4 and 22.|NCI|N|
C5206895|A malignant brain neoplasm that is confined to a specific site without evidence of spread to other anatomic sites.|NCI|N|
C5206897|Rhabdomyosarcoma that occurs during childhood and is confined to a specific site without evidence of spread to other anatomic sites.|NCI|N|
C5206924|A point mutation in the LHCGR gene that encodes an amino acid substitution in the lutropin-choriogonadotropic hormone receptor protein.|NCI|N|
C5206937|A nucleotide substitution at position 1793 of the coding sequence of the EGFR gene where guanine has been mutated to thymine.|NCI|N|
C5206938|A response indicating that an individual is independently mobile but may use any aid and can move more than 50 yards.|NCI|N|
C5206941|An extremely rare and highly aggressive malignant neoplasm arising from the peritoneum. Morphologically, it is a high grade tumor, composed of carcinomatous and sarcomatous elements.|NCI|N|
C5206946|A condition characterized by a clinically relevant degree of muscle wasting that is associated either with impaired functional capacity and/or with increased risk of morbidity or mortality.|NCI|N|
C5206948|Pleural malignant mesothelioma that is resistant to treatment.|NCI|N|
C5206968|NUT carcinoma that has spread from its original site of growth to another anatomic site.|NCI|N|
C5206969|An indication that expression of PMS2 was detected in the nuclei of cells in a sample.|NCI|N|
C5206985|A mesenchymal neoplasm that arises from the prostate gland.|NCI|N|
C5206987|An indication that the subject has met eligibility criteria and is enrolled in the study. The subject may or may not subsequently be randomized.|NCI|N|
C5206989|A morphologic finding indicating the presence of astrocytes with intracytoplasmic swelling and vacuolation.|NCI|N|
C5207005|A term that refers to the staging of cervical cancer according to the International Federation of Gynecology and Obstetrics (FIGO) staging, 2018.|NCI|N|
C5207006|Mucinous adenocarcinoma of the appendix that has spread from the original site of growth to other anatomic sites.|NCI|N|
C5207007|A change in the amino acid residue at position 1094 in the hepatocyte growth factor receptor protein where histidine has been replaced by tyrosine.|NCI|N|
C5207030|The focal spread of a malignant tumor in a single anatomic site.|NCI|N|
C5207031|Hemophagocytic syndrome that is associated with viral infection.|NCI|N|
C5207032|Moderate contracture; the breast is firm and appears abnormal.|NCI|N|
C5207034|Myelodysplastic syndrome with a score of INT-2 (intermediate-2) or higher (the category above INT-2).|NCI|N|
C5207071|A lower than average level of hemoglobin in a sample.|NCI|N|
C5207072|Colorectal adenocarcinoma that is resistant to treatment.|NCI|N|
C5207074|An epithelioid hemangioma that occurs in the skin of the penis.|NCI|N|
C5207075|A finding indicating the tumor location is on the midline of the specimen.|NCI|N|
C5207077|An indication of the first visit during which a particular event or status was noted.|NCI|N|
C5207078|A response that relates an event to another cancer.|NCI|N|
C5207080|A response indicating there were no full term pregnancies.|NCI|N|
C5207082|A brain neoplasm that is confined to a specific site without evidence of spread to other anatomic sites.|NCI|N|
C5207085|Adjuvant I-131 therapy administration is unknown.|NCI|N|
C5207086|A response indicating Tamoxifen was used in the past.|NCI|N|
C5207087|An indication that BRAF rearrangement analysis was performed during the study.|NCI|N|
C5207090|It is unknown if the new disease is multifocal.|NCI|N|
C5207091|A sarcoma with a GX grade that cannot be assessed.|NCI|N|
C5207092|A response that the histologic grade is other than is specified on the form.|NCI|N|
C5207093|A response that sarcomatoid features are absent in a specimen.|NCI|N|
C5207094|An intestinal-type adenocarcinoma that arises from the sinonasal tract. It is characterized by the presence of a papillary growth pattern.|NCI|N|
C5208041|An increased concentration of neutrophil gelatinase-associated lipocalin in the urine (there is no generally accepted threshold, but some studies choose a threshold of above 150 nanogram per milliliter).|HPO|N|
C5208352|Langerhans cell histiocytosis that affects the skin. It manifests with skin papules and plaques.|NCI|N|
C5208356|A condition occurring in cats characterized by solitary or multiple cutaneous nodules and papules, which may metastasize late in the course of the disease. Lesions consist of poorly circumscribed histiocytic infiltrates of the superficial and deep dermis, with variable extension into the subcutis.|NCI|N|
C5209220|Underdeveloped hemidesmosomes at the dermoepidermal junction. Hemidesmosomes are the specialized junctional complexes, that contribute to the attachment of epithelial cells to the underlying basement membrane in stratified and other complex epithelia, such as the skin.|HPO|N|
C5209221|Congenital absence of the radial artery.|HPO|N|
C5209222|A structural abnormality of the retinal nerve fiber layer|HPO|N|
C5209223|Swelling (edema) of the retinal nerve fibers.|HPO|N|
C5209224|A history of conception by an assisted reproductive technology such as in vitro fertilization (IVF), intracytoplasmic sperm injection (ICSI), and cryopreservation.|HPO|N|
C5209225|Avascular cystic elevations of the superior conjunctiva not related to ocular surgery or trauma.|HPO|N|
C5209226|A lump detected in the region that surrounds a joint. In this context, mass is a general term for a lump or growth that may be caused by the abnormal growth of cells, a cyst, hormonal changes, or an immune reaction.|HPO|N|
C5209227|Aplasia (congenital absence) of the olfactory tract, which causes anosmia, a complete loss of the sense of smell.|HPO|N|
C5209228|Any deviation of the concentration of one or more proteins in the urine.|HPO|N|
C5209229|Abnormal structure of the basement membrane of the renal tubulus.|HPO|N|
C5209230|Increased visceral epithelial cell size, with or without cytoplasmic protein droplets.|HPO|N|
C5209231|Abnormally increased count of neutrophils in urine.|HPO|N|
C5209232|The presence of circulating IgG autoantibodies to cardiolipin.|HPO|N|
C5209233|The presence of circulating IgM autoantibodies to cardiolipin.|HPO|N|
C5209234|Medical history of a recent bite injury due to an animal.|HPO|N|
C5209235|Medical history of a recent bite injury due to an insect.|HPO|N|
C5209236|Medical history of a recent bite injury due to a tick.|HPO|N|
C5209237|An abnormal blood pressure discrepancy between the upper and lower extremities with the blood pressure measured in the legs being much higher than the blood pressure measure in the arms. In healthy individuals, ankle systolic blood pressures are only slightly higher than the systolic blood pressure measured in the arm.|HPO|N|
C5209238|An abnormal blood pressure discrepancy between the upper and lower extremities with the blood pressure measured in the arms being much higher than the blood pressure measure in the legs. In healthy individuals, ankle systolic blood pressures are only slightly higher than the systolic blood pressure measured in the arm.|HPO|N|
C5209239|A cyst in the trachea, whose wall is made up by tissue similar to the bronchial tree, including cartilage and smooth muscle, and is lined by secretory respiratory epithelium composed of cuboid or columnar ciliated epithelium.|HPO|N|
C5209240|The presence of calcium phosphate crystals in the urine.|HPO|N|
C5209241|The presence of calcium oxalate crystals in the urine.|HPO|N|
C5209242|The presence of calcium carbonate crystals in the urine.|HPO|N|
C5209243|An abnormally elevated concentration od mead acid in the blood circulation.|HPO|N|
C5209244|An increase concentration of succinate in the blood circulation.|HPO|N|
C5209245|The concentration of uromodulin (also known as Tamm Horsfall protein) in the urine, normalized for urine concentration, is above the upper limit of normal.|HPO|N|
C5209247|Beta-1,3-glucan is a major constituent of all of the characterized fungal cell walls, making up between 30-80 percent of the mass of the wall. It is a biomarker of fungal infections such as invasive pulmonary aspergillosis.|HPO|N|
C5209248|An abnormal structure of the female germ cell (egg cell).|HPO|N|
C5209249|Abnormal structure of the oocyte extracellular matrix region known as teh zona pellucida.|HPO|N|
C5209250|Reduced thickness of the zona pellucida.|HPO|N|
C5209251|An increased concentration of adrenic acid (also known as cis-7,10,13,16-Docosatetraenoic acid) in the blood circulation.|HPO|N|
C5209252|Failure of the gonadotropin-releasing hormone (GnRH) stimulation test to induce an appropriate increased in luteinizing hormone (LH), follicle-stimulating hormone (FSH) levels.|HPO|N|
C5209253|Cellular accumulation of GM1 gangliosides.|HPO|N|
C5209254|An anomalous response to a medication related to individual variation in metabolic or immune response to drugs varying from potentially from potentially life-threatening adverse drug reactions to alteration of therapeutic efficacy.|HPO|N|
C5209255|High plasma concentration of a drug as compared to previously measured thresholds given the expected concentration for the applied dosage regime.|HPO|N|
C5209256|Low plasma concentration of a drug as compared to previously measured thresholds given the expected concentration for the applied dosage regime.|HPO|N|
C5209257|Decreased response to a drug intervention in comparison to the expected response.|HPO|N|
C5209258|Activity or concentration of cholinesterase in the blood circulation below the lower limit of normal.|HPO|N|
C5209259|The presence of cholesterol crystals in the urine.|HPO|N|
C5209260|An abnormal proportion of CD8-positive, alpha-beta effector memory RA TEMRA T cells compared to the total number of T cells in the blood. These cells have the phenotype CD45RA-positive, CD45RO-negative, and CCR7-negative.|HPO|N|
C5209261|A deviation from the normal count of dendritic cells in the peripheral blood circulation. Dendritic cells are of hematopoietic origin, typically resident in particular tissues, specialized in the uptake, processing, and transport of antigens to lymph nodes for the purpose of stimulating an immune response via T cell activation. These cells are lineage negative (CD3-negative, CD19-negative, CD34-negative, and CD56-negative).|HPO|N|
C5209262|A deviation from the normal concentration of haptoglobin in the blood circulation.|HPO|N|
C5209263|An abnormally high concentration of haptoglobin in the blood circulation. Haptoglobin is an acute-phase reactant whose levels can become elevated in the presence of infection and inflammation.|HPO|N|
C5209264|An abnormally low concentration of haptoglobin in the blood circulation. Decreased haptoglobin in conjunction with increased reticulocyte count and anemia may indicate hemolysis. Decreased haptoglobin levels can also occur in the absence of hemolysis, due to cirrhosis of the liver, disseminated ovarian carcinomatosis, pulmonary sarcoidosis, and elevated estrogen state.|HPO|N|
C5209265|A measurable change in circulating levels of Atrial natriuretic peptide hormone, a protein which plays an important role in the regulation of body fluid volume and blood pressure.|HPO|N|
C5209266|A measurable elevation in circulating levels of Atrial natriuretic peptide hormone, a protein which plays an important role in the regulation of body fluid volume and blood pressure.|HPO|N|
C5209267|A measurable reduction in circulating levels of Atrial natriuretic peptide hormone, a protein which plays an important role in the regulation of body fluid volume and blood pressure.|HPO|N|
C5209268|Abnormal morphological development of the superior part of the cerebellum.|HPO|N|
C5209269|Pachygyria with a very thick cerebral cortex measuring 10-20 mm. Note that cortical thickness cannot be measured reliably on scans done between 3 and 24 months of age.|HPO|N|
C5209270|Pachygyria with cortical thickness between 5 and 10 mm with and a posterior predominant severity gradient. The severity gradient is determined based on the gyral width, with gyri typically over 5mm over the more severely affected regions. Posterior predominant gradient indicates pachygyria more severe other the occipital lobes but also includes a rare perisylvian-predominant pachygyria and a temporal predominant pachygyria.|HPO|N|
C5209271|Pachygyria with cortical thickness above 10 mm with and a posterior predominant severity gradient. The severity gradient is determined based on the gyral width, with gyri typically wider than 5mm over the more severely affected regions. Posterior predominant gradient indicates pachygyria more severe other the occipital lobes but also includes a rare perisylvian-predominant pachygyria and a temporal predominant pachygyria.|HPO|N|
C5209272|Pachygyria with cortical thickness greater than 10 mm and a perisylvian predominant severity gradient. The severity gradient is determined based on the gyral width, with gyri typically wider than 5mm over the more severely affected regions. Perisylvian predominant gradient indicates pachygyria more severe other the occipital lobes but also includes a rare perisylvian-predominant pachygyria and a temporal predominant pachygyria.|HPO|N|
C5209273|Pachygyria with cortical thickness greater than 10 mm and an anterior predominant severity gradient. The severity gradient is determined based on the gyral width, with gyri typically wider than 5mm over the more severely affected regions. Anterior predominant gradient indicates pachygyria more severe over the frontal and temporal lobes.|HPO|N|
C5209274|Pachygyria with a mildly thickened cerebral cortex measuring 5-10 mm. Note that cortical thickness cannot be measured reliably on scans done between 3 and 24 months of age.|HPO|N|
C5209275|An abnormally increased duration of the reptilase time. Reptilase time is a functional plasma clotting assay, which is based on the enzymatic activity of batroxobin. By specifically cleaving fibrinogen A from fibrinogen, batroxobin leads to the formation of a stable fibrin clot. The time, starting from the addition of batroxobin to the plasma sample, until clot formation is the reptilase time and is given in seconds.|HPO|N|
C5209276|An abnormal IgA heavy chain in the circulation and typically produced by a clonal population of B-cell derived plasma cells.|HPO|N|
C5209277|An abnormal IgG heavy chain in the circulation and typically produced by a clonal population of B-cell derived plasma cells.|HPO|N|
C5209278|An abnormal IgM heavy chain in the circulation and typically produced by a clonal population of B-cell derived plasma cells.|HPO|N|
C5209279|An increased circulation of arachidonic acid in the blood circulation.|HPO|N|
C5209280|Any deviation from the normal concentration of 18-Hydroxycorticosterone level in the blood circulation.|HPO|N|
C5209281|A subnormal concentration of 18-Hydroxycorticosterone level in the blood circulation.|HPO|N|
C5209282|An abnormally elevated concentration of 18-Hydroxycorticosterone level in the blood circulation.|HPO|N|
C5209284|Abnormally elevated placental thickness.|HPO|N|
C5209285|Persistence beyond the normal age (roughly the first half of the first year of life) of the asymmetric tonic neck reflex (ATNR), which is an easily elicited primitive reflex in the immediate newborn period. The ATNR refers to the phenomenon whereby when the face of an infant is turned to one side, the ipsilateral arm and leg extend and the contralateral arm and leg flex. This posture has been compared to a typical posture of fencers.|HPO|N|
C5209286|Enlarged, oval-shaped erythrocytes (red blood cells).|HPO|N|
C5209287|Distal tubular epithelial cells in which globotriaosylceramide (Gb3) has accumulated. they are the characteristic feature of Fabry disease. Urinary mulberry bodies are a component of mulberry cells that can be distinguished easily from fat particles by their inner lamellar appearance.|HPO|N|
C5209288|The absence of lactoferrin in neutrophil granules, which could be caused by either an isolated failure of synthesis of this protein (or the production of an antigenically unrecognizable form of lactoferrin) or a complete deficiency of specific granule production.|HPO|N|
C5209289|An abnormality of the nucleus of neutrophils, which presents as either a type I nuclear cleft, where the nuclear cleft may show a transition into a round/oval shape. The second type nuclear cleft, which runs perpendicular to the nuclear surface, and this type of cleft might be related to nuclear lobe formation.|HPO|N|
C5209290|An abnormally reduced level of alkaline phosphatase in neutrophils, which could be due to absence of enzyme or the production of defective enzyme.|HPO|N|
C5209291|An increased number of mitochondria detected in neutrophils.|HPO|N|
C5209292|An increased number of ribosomes detected in neutrophils.|HPO|N|
C5209293|A decrease in the protein expression of GPI-anchor proteins, such as CD55 and CD59, at the cell surface, which suggests a defect in GPI-anchor biosynthesis.|HPO|N|
C5209297|An abnormally increased level of immunoglobulin against hepatitis A virus in the blood.|HPO|N|
C5209298|An abnormally increased level of immunoglobulin against hepatitis B virus in the blood.|HPO|N|
C5209299|An abnormally increased level of immunoglobulin against hepatitis C virus in the blood.|HPO|N|
C5212358|A molecular abnormality indicating rearrangement of the EWSR1 gene.|NCI|N|
C5212360|A molecular abnormality indicating rearrangement of the FOXO1 gene.|NCI|N|
C5212365|A molecular abnormality indicating rearrangement of the SS18 gene.|NCI|N|
C5214485|A subjective answer of complete disagreement.|NCI|N|
C5229383|Rare myeloid neoplasms characterized by eosinophilia, bone marrow findings of left-shifted erythroid predominance, lymphoid aggregates, and often myelofibrosis, and the detection of t(8;9)(p22;p24.1) and PCM1-JAK2 fusion gene. Rare cases present as T- or B-acute lymphoblastic leukemia.|NCI|N|
C5229522|An atypical form of AORTIC DISSECTION in which subintimal dissection of the aortic TUNICA MEDIA without initial laceration of the aortic TUNICA INTIMA. It may begin from a rupture of the VASA VASORUM feeding aortic media.|MSH|N|
C5229936|Flat, distinct, discolored area on the lip less than 1 cm wide not associated with a change in the thickness or texture.|HPO|N|
C5230180|A finding of B-cell prolymphocytic leukemia that is not growing and responds to treatment.|NCI|N|
C5230236|A disease caused by infection with Alkhumra hemorrhagic fever virus.|MONDO|N|
C5230265|A rare ophthalmic disorder characterized by inflammation of the posterior uveal tract (retina and choroid), due to an infectious etiology. Presenting symptoms are decreased visual acuity, visual field defects, floaters, photopsia, photophobia, and occasionally pain. Signs on examination include conjunctival injection, keratic precipitates, retrolental cells, inflammatory infiltrates on the retina, macular edema, and peripheral retinal neovascularization, among others. Complications (such as cataracts, band keratopathy, glaucoma, cystoid macula edema, and retinal detachment) may lead to permanent vision loss.|ORDO|N|
C5230306|A mycosis that involves subcutaneous tissue. There are three general types of subcutaneous mycoses: chromoblastomycosis, mycetoma, and sporotrichosis.|MONDO|N|
C5230308|A rare genetic neurologic disease with characteristics of primary hyperaldosteronism presenting with early-onset severe hypertension, hypokalaemia and neurological manifestations (including seizures, severe hypotonia, spasticity, cerebral palsy and profound developmental delay/intellectual disability). There is evidence the disease is caused by heterozygous mutation in the CACNA1D gene on chromosome 3p21.|SNOMEDCT_US|N|
C5230354|A rare ophthalmic disorder characterized by generalized inflammation of all parts of the uveal tract (iris, ciliary body, and choroid), simultaneously involving adjacent vitreous and retina, without any predominant site of inflammation, due to viral, bacterial, fungal, or parasitic infections. Clinical symptoms include pain, photophobia, redness, blurring of vision, and floaters. Signs on examination are lid edema, ciliary injection, chemosis, keratic precipitates, cells in the anterior chamber, hypopyon, iris nodules and neovascularization, posterior synechiae, macular edema, vitreous and retinal hemorrhage, and retinal detachment, among others. Complications may result in visual loss.|ORDO|N|
C5230404|An acute myeloid leukemia with double mutations of the CEBPA gene.|NCI|N|
C5230486|Intake above the recommended acceptable daily intake (ADI) of high intensity sweeteners that contain nutritive and nonnutritive sugar substitutes.|SNOMEDCT_US|N|
C5230517|A rare, slow-growing, low-grade soft tissue sarcoma arising from the sinonasal tract. It presents with non-specific obstructive nasal symptoms. Morphologically, it is an infiltrative, cellular spindle cell neoplasm. It is associated with rearrangement of the PAX3 gene.|NCI|N|
C5230531|A cutaneous melanocytic neoplasm composed of heavily pigmented epithelioid and dendritic cells, with metastatic potential limited to regional lymph nodes. It can occur as a sporadic lesion or in patients with Carney complex. (WHO 2018)|NCI|N|
C5230619|A rare neuronal ceroid lipofuscinosis disorder with characteristics of juvenile-onset progressive spinocerebellar ataxia, bulbar syndrome (manifesting with dysarthria, dysphagia and dysphonia), pyramidal and extrapyramidal involvement (including myoclonus, amyotrophy, unsteady gait, akinesia, rigidity, dysarthric speech) and intellectual deterioration. Muscle biopsy displays autofluorescent bodies and lipofuscin deposits in brain and occasionally the retina upon post mortem.|SNOMEDCT_US|N|
C5230629|A group of rare genetic neurodegenerative diseases with characteristics of infancy to childhood onset of progressive spastic paraplegia (with delayed motor milestones, gait disturbances, hyperreflexia and extensor plantar responses), optic atrophy (which may be accompanied by nystagmus and visual loss) and progressive peripheral neuropathy (with sensory impairment and distal muscle weakness/atrophy in upper and lower extremities). Additional signs may include foot deformities, spinal defects (scoliosis, kyphosis), joint contractures, exaggerated startle response, speech disorders, hyperhidrosis, extrapyramidal signs and intellectual disability. In very rare cases, a variant phenotype with less prominent or absent optic atrophy and/or neuropathy may be observed.|SNOMEDCT_US|N|
C5230684|A non-invasive neoplasm of thyroid follicular cells with a follicular growth pattern and nuclear features of papillary thyroid carcinoma that has an extremely low malignant potential. These tumors were formerly classified as non-invasive encapsulated follicular variant of papillary thyroid carcinoma or well-differentiated tumor of uncertain malignant potential. (WHO)|NCI|N|
C5230897|Measured weight increase during pregnancy.|SNOMEDCT_US|N|
C5230900|The purpose of weight gain or weight loss.|SNOMEDCT_US|N|
C5230904|Measured weight decrease during pregnancy.|SNOMEDCT_US|N|
C5230921|Intraepithelial neoplasia of the penis or vulva. It usually presents as a solitary white or pink macule or plaque that may be slightly elevated. A background of long-standing lichen sclerosus is often present.|NCI|N|
C5230922|A melanocytic nevus that arises from the palms, soles, and nails.|NCI|N|
C5230925|Nodular melanoma that arises from a mucosal site.|NCI|N|
C5230949|A rare benign pilar tumor with numerous intratumoral pigmented dendritic melanocytes. It typically affects elderly men. The most common location is the head and neck, followed by the trunk and the limbs. It manifests as a small, pigmented, purple or brownish-black papule or nodule. (WHO 2018)|NCI|N|
C5230986|A congenital or acquired benign dermal spindle cell neoplasm with histopathological features mimicking those of superficial dermal dermatofibrosarcoma protuberans. (WHO 2018)|NCI|N|
C5230988|A rare, low-grade skin neoplasm of mesenchymal cells of unknown lineage with prominent cytoplasmic granularity. The lesions are most commonly non-ulcerated papules or nodules. Most cases are indolent, despite worrisome histopathologic features. Few cases with regional lymph node metastasis have been reported. (WHO 2018)|NCI|N|
C5230993|A distinctive benign cutaneous vascular proliferation with prominent epithelioid morphology. It appears to be reactive. (WHO 2018)|NCI|N|
C5230999|A rare, non-syndromic, uterovaginal malformation characterized by underdevelopment of the uterus, ranging from complete absence to the presence of bilateral rudimentary horns with or without a cavity. Patients usually present with primary amenorrhea, abdominal/pelvic pain and/or infertility.|ORDO|N|
C5231000|Congenital respiratory-biliary fistula (RBF) is a rare developmental defect characterized by an anomalous connection of trachea or bronchus with left hepatic duct presenting with respiratory distress, recurrent respiratory infections and biliary expectoration or vomitus.|ORPHANET|N|
C5231006|Trichorhinophalangeal syndromes (TRPS) type 1 and 3 has characteristics of short stature, sparse hair, a bulbous nasal tip and cone-shaped epiphyses, as well as severe generalized shortening of all phalanges, metacarpals and metatarsal bones. TRPS types 1 and 3 are variants of a single disease type 3 being at the severe end of the clinical spectrum, with very short stature and very severe brachydactyly. They can be distinguished from type 2 trichorhinophalangeal syndrome by the lack of intellectual deficit and exostoses. TRPS types 1 and 3 are linked to mutations in the TPRS1 gene localised to 8q24.12. Transmission is autosomal dominant.|SNOMEDCT_US|N|
C5231010|Posterior hypospadias is a rare, non-syndromic, urogenital tract malformation with characteristics of an ectopic urethral meatus opening located in the posterior penis, the penoscrotal junction, the scrotum or the perineum, which often appears stenotic. The scrotum might appear bifid in severe cases and micropenis is not commonly associated. Urinary tract malformations, such as ureteropelvic junction obstruction, vesicoureteric reflux, pelvic or horseshoe kidney, crossed renal ectopia, renal agenesis, may be observed.|SNOMEDCT_US|N|
C5231013|A primitive neuroectodermal tumor that originates from the cells of the embryonic medullary canal.|HPO|N|
C5231034|A rare, adrenogenital syndrome characterized by generalized, partial tissue insensitivity to glucocorticoids leading to variable phenotype, including asymptomatic individuals with only biochemical alterations or patients with ambiguous genitalia at birth in females, hypertension, acne, hirsutism, precocious puberty, male-pattern hair loss, anxiety and depression in both sexes, menstrual irregularities in women, and oligospermia in men.|ORPHANET|N|
C5231043|The assessed level of knowledge of a community, subpopulation, or population.|SNOMEDCT_US|N|
C5231079|A sweat gland carcinoma usually arising from a pre-existing syringocystadenoma papilliferum.|NCI|N|
C5231080|A rare, low-grade sweat gland carcinoma with neuroendocrine differentiation. It usually arises on the eyelids and periorbital skin. It affects mostly older individuals. Women are affected more frequently than men. Morphologically, it is characterized by well-demarcated nodules with cystic, papillary, or cribriform architectural patterns. The neoplastic cells are small to intermediate polygonal to round cells. Small amounts of intracellular or extracellular mucin are present. In some cases, this carcinoma is a precursor of mucinous carcinoma.|NCI|N|
C5231091|The assessed level of skill of a community, subpopulation, or population.|SNOMEDCT_US|N|
C5231133|A client assessment of their congruence to agreed upon nutrition related self monitoring.|SNOMEDCT_US|N|
C5231134|The degree to which a client can describe previously agreed upon nutrition objectives.|SNOMEDCT_US|N|
C5231135|A client assessment of their congruence with agreed upon nutrition related self management.|SNOMEDCT_US|N|
C5231189|Partial or complete paralysis of the vagus nerve.|NCI|N|
C5231190|Partial or complete paralysis of the spinal accessory nerve.|NCI|N|
C5231192|Paralysis of the glossopharyngeal nerve.|NCI|N|
C5231255|A rare genetic neuro-ophthalmological disease with characteristics of progressive weakness of the external eye muscles, resulting in bilateral ptosis and diffuse symmetric ophthalmoparesis. Additional signs may include skeletal muscle weakness, cataracts, hearing loss, sensory axonal neuropathy, ataxia, parkinsonism, cardiomyopathy, hypogonadism and depression. It is usually less severe than autosomal recessive form.|SNOMEDCT_US|N|
C5231314|A rare extraskeletal chondroma located in the head and neck region with typical histological characteristics of lobules of mature, adult hyaline cartilage with chondrocytic cells identifiable in lacunae and prominent fibrosis. Malignant transformation has not been described.|SNOMEDCT_US|N|
C5231388|Oculopharyngodistal myopathy-1 (OPDM1) is an autosomal dominant disorder characterized by adult-onset ptosis, external ophthalmoplegia, facial muscle weakness, distal limb muscle weakness and atrophy, and pharyngeal involvement, resulting in dysphagia and dysarthria. Skeletal muscle biopsy shows myopathic changes with rimmed vacuoles. There are variable manifestations of the disorder regarding muscle involvement and severity (summary by Ishiura et al., 2019).
Genetic Heterogeneity of Oculopharyngodistal Myopathy
See also OPDM2 (618940), caused by trinucleotide repeat expansion in the GIPC1 gene (605072) on chromosome 19p13; OPDM3 (619473), caused by trinucleotide repeat expansion in the NOTCH2NLC gene (618025) on chromosome 1q21; and OPDM4 (619790), caused by trinucleotide repeat expansion in the RILPL1 gene (614092) on chromosome 12q24.
Oculopharyngeal muscular dystrophy (OPMD; 164300) is a similar disorder with overlapping features. It is caused by a similar heterozygous trinucleotide repeat expansion in the PABPN1 gene (602279) (summary by Durmus et al., 2011).|OMIM|N|
C5231389|Autonomic bladder dysfunction with impaired pupillary reflex and secondary CAKUT (congenital anomalies of the kidney and urinary tract) is an autosomal recessive neurogenic disorder with onset in utero or early childhood. Affected individuals have impaired neuronal bladder and ureteral innervation causing coordination defects that result in secondary structural defects of the renal system, including hydronephrosis, vesicoureteral reflux (VUR), and small kidneys, that may result in chronic kidney disease as well as recurrent urinary tract infections (UTIs). Surgical treatment of VUR is not effective. Most individuals also have additional autonomic features, most commonly impaired pupillary reflex and sometimes orthostatic hypotension (summary by Mann et al., 2019).|OMIM|N|
C5231391|Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay is an autosomal recessive neurodevelopmental disorder characterized by infantile onset of hypotonia and developmental delay with subsequent impaired intellectual development and severe speech delay. In childhood, affected individuals show delayed walking and develop epilepsy that is usually controlled by medication. Brain imaging shows cerebellar hypoplasia/atrophy (summary by Wang et al., 2019).|OMIM|N|
C5231394|Basilicata-Akhtar syndrome (MRXSBA) is characterized by global developmental delay apparent from infancy, feeding difficulties, hypotonia, and poor or absent speech. Most patients are able to walk, although they may have an unsteady gait or spasticity. Additional findings include dysmorphic facial features and mild distal skeletal anomalies. Males and females are similarly affected (summary by Basilicata et al., 2018).|OMIM|N|
C5231395|Congenital nongoitrous hypothyroidism-8 (CHNG8) is characterized by relatively mild central hypothyroidism, which may be accompanied by hearing loss in some patients (Heinen et al., 2016).|OMIM|N|
C5231396|Nongoitrous congenital hypothyroidism-9 (CHNG9) is characterized by a small thyroid gland with low free T4 (FT4) levels and inappropriately normal levels of thyroid-stimulating hormone (TSH) (Heinen et al., 2018).|OMIM|N|
C5231400|Autosomal dominant intellectual developmental disorder-61 (MRD61) is characterized by global developmental delay apparent in infancy with mildly impaired intellectual development, expressive speech delay, and behavioral abnormalities, including autism spectrum disorder and attention deficit-hyperactivity disorder (ADHD). Most affected individuals learn to walk on time or with some mild delay. Additional features are highly variable and may include nonspecific dysmorphic features, obstipation, ocular anomalies, and poor overall growth (Snijders Blok et al., 2018).|OMIM|N|
C5231401|Congenital myopathy-16 (CMYP16) is an autosomal dominant muscle disorder characterized by onset of hypotonia and tremor in infancy. Patients have mildly delayed walking, unsteady gait, proximal muscle weakness, and a high-frequency tremor of the limbs. Some may develop secondary mild contractures or spinal deformities. Cognition is normal and the disease course tends to stabilize after adolescence (summary by Stavusis et al., 2019).
For a discussion of genetic heterogeneity of congenital myopathy, see CMYP1A (117000).|OMIM|N|
C5231402|Immunodeficiency-64 with lymphoproliferation (IMD64) is an autosomal recessive primary immunodeficiency characterized by onset of recurrent bacterial, viral, and fungal infections in early childhood. Laboratory studies show variably decreased numbers of T cells, with lesser deficiencies of B and NK cells. There is impaired T-cell proliferation and activation; functional defects in B cells and NK cells may also be observed. Patients have increased susceptibility to EBV infection and may develop lymphoproliferation or EBV-associated lymphoma. Some patients may develop features of autoimmunity (summary by Salzer et al., 2016, Mao et al., 2018, and Winter et al., 2018).|OMIM|N|
C5231403|Nonphotosensitive trichothiodystrophy-7 (TTD7) is an autosomal recessive disorder characterized by cysteine- and threonine-deficient hair that displays a diagnostic alternating light and dark 'tiger-tail' banding pattern under polarization microscopy, as well as ichthyosis (Theil et al., 2019).
For a discussion of genetic heterogeneity of trichothiodystrophy, see 601675.|OMIM|N|
C5231404|Neurodevelopmental disorder with visual defects and brain anomalies (NEDVIBA) is characterized by global developmental delay with impaired intellectual development and speech delay, variable visual defects, including retinitis pigmentosa and optic atrophy, hypotonia or hypertonia, and variable structural brain abnormalities. Other nonspecific features may be found (summary by Okur et al., 2019).|OMIM|N|
C5231405|Multiple congenital anomalies-hypotonia-seizures syndrome-4 (MCAHS4) is an autosomal recessive neurologic disorder characterized by onset of refractory seizures in the first months of life. Patients have severe global developmental delay, and may have additional variable features, including dysmorphic or coarse facial features, visual defects, and mild skeletal or renal anomalies. At the cellular level, the disorder is caused by a defect in the synthesis of glycosylphosphatidylinositol (GPI), and thus affects the expression of GPI-anchored proteins at the cell surface (summary by Starr et al., 2019).
For a discussion of genetic heterogeneity of MCAHS, see MCAHS1 (614080).
For a discussion of genetic heterogeneity of DEE, see 308350.
For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (610293).|OMIM|N|
C5231407|Oocyte/zygote/embryo maturation arrest-7 (OZEMA7) is characterized by infertility due to oocyte death, which may occur before or after fertilization (Sang et al., 2019).
For a discussion of genetic heterogeneity of OZEMA, see 615774.|OMIM|N|
C5231408|Congenital stationary night blindness type 1I (CSNB1I) is characterized by night blindness from infancy or early childhood. Visual acuity is preserved, but some patients have color vision and/or visual field defects. Older patients may show retinitis pigmentosa-like retinal degeneration (Stunkel et al., 2018).|OMIM|N|
C5231409|Developmental and epileptic encephalopathy-78 (DEE78) is a severe neurologic disorder characterized by onset of refractory seizures in the first days or months of life followed by severely impaired intellectual development. Additional features may include cortical visual impairment, hypotonia, and abnormal movements, such as spasticity (summary by Butler et al., 2018). One family with an attenuated disease course has been reported (Maljevic et al., 2019).
For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350.|OMIM|N|
C5231410|Developmental and epileptic encephalopathy-79 (DEE79) is a severe neurologic disorder characterized by onset of refractory seizures in the first months of life. Affected individuals have severely impaired psychomotor development and may show hypotonia or spasticity. Brain imaging may show hypomyelination, cerebral atrophy, and thinning of the corpus callosum (summary by Butler et al., 2018 and Hernandez et al., 2019).
For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350.|OMIM|N|
C5231411|Autosomal dominant pontine microangiopathy and leukoencephalopathy (PADMAL) is a form of cerebral small vessel disease (CSVD) resulting in the onset of recurrent ischemic strokes in the thirties or forties. Affected individuals develop progressive, but variable, cognitive and motor impairment, consistent with progressive multi-infarct dementia. Brain imaging shows lacunar infarcts, often with a pontine predilection, as well as diffuse leukoencephalopathy affecting various brain regions. Although there are overlapping clinical features, the disorder is genetically and pathologically distinct from CADASIL (125310) (summary by Verdura et al., 2016).|OMIM|N|
C5231412|Mitochondrial depletion syndrome-17 (MTDPS17) is an autosomal recessive dystonic or movement disorder (summary by Shafique et al., 2023).
For a discussion of genetic heterogeneity of autosomal recessive mtDNA depletion syndromes, see MTDPS1 (603041).|OMIM|N|
C5231417|Congenital myopathy-19 (CMYP19) is an autosomal recessive skeletal muscle disorder characterized by infantile-onset of progressive muscle weakness and atrophy associated with scoliosis, variably impaired walking, and dysmorphic facial features (Feichtinger et al., 2019).
For a discussion of genetic heterogeneity of congenital myopathy, see CMYP1A (117000).|OMIM|N|
C5231418|Developmental and epileptic encephalopathy-80 (DEE80) is an autosomal recessive neurologic disorder characterized by the onset of refractory seizures in the first year of life. Patients have severe global developmental delay and may have additional variable features, including dysmorphic or coarse facial features, distal skeletal abnormalities, and impaired hearing or vision. At the cellular level, the disorder is caused by a defect in the synthesis of glycosylphosphatidylinositol (GPI), and thus affects the expression of GPI-anchored proteins at the cell surface (summary by Murakami et al., 2019).
For a discussion of genetic heterogeneity of DEE, see 308350.
For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (610293).|OMIM|N|
C5231419|Neurodevelopmental disorder with brain anomalies, seizures, and scoliosis (NEDBSS) is an autosomal recessive disorder characterized by severely impaired psychomotor development, hypotonia, seizures, and structural brain anomalies, including thin corpus callosum and cerebellar atrophy. Other features include scoliosis, dysmorphic facies, and visual impairment. Affected individuals are usually unable to walk or speak and may require tube feeding in severe cases. The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis (summary by Knaus et al., 2019).
For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (610293).|OMIM|N|
C5231420|Individuals with familial natural short sleep-2 (FNSS2) have a sleep requirement of 4 to 6 hours per night (Shi et al., 2019).
For a discussion of genetic heterogeneity of FNSS, see FNSS1 (612975).|OMIM|N|
C5231422|Progressive spastic tetraplegia and axial hypotonia (STAHP) is an autosomal recessive neurologic disorder characterized by onset of severe and progressive motor dysfunction in the first year of life. Affected individuals have severe axial hypotonia combined with spastic tetraplegia, hyperekplexia, hypertonia, and myokymia, reflecting upper motor neuron involvement. Cognitive development may be affected, but only 2 unrelated patients have been reported (Andersen et al., 2019; Park et al., 2019).|OMIM|N|
C5231423|Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities (NEDHIB) is characterized by early-onset hypotonia, delayed walking, poor speech, and impaired intellectual development. Additional features may include feeding difficulties, dysmorphic features, and visual defects. Brain imaging tends to show delayed myelination, thin corpus callosum, and/or enlarged ventricles. The severity of the disorder is highly variable; initial evidence suggests that the severity may depend on the type of mutation (summary by Haijes et al., 2019).|OMIM|N|
C5231424|Snijders Blok-Fisher syndrome (SNIBFIS) is a neurodevelopmental disorder characterized by global developmental delay, hypotonia, variable impaired intellectual development, and specifically impaired speech and language acquisition. Patients achieve independent ambulation and most have mildly to moderately impaired cognition with autistic features, although a few may develop seizures and have a more severe phenotype. Dysmorphic features include abnormal, cupped, or prominent ears and ocular anomalies. Mutations usually occur de novo, although 1 family with autosomal dominant inheritance has been reported (summary by Snijders Blok et al., 2019).|OMIM|N|
C5231425|Pontocerebellar hypoplasia type 13 (PCH13) is an autosomal recessive disorder characterized by global developmental delay, impaired intellectual development with absent speech, microcephaly, and progressive atrophy of the cerebellar vermis and brainstem. Additional features, including seizures and visual impairment, are variable (summary by Uwineza et al., 2019).
For a general phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1A (607596).|OMIM|N|
C5231426|Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies (IDNADFS) is characterized by mildly impaired global development, speech delay with nasal speech, and dysmorphic facial features, including high forehead, midface hypoplasia, micrognathia or high-arched palate, hypo/hypertelorism, upslanting palpebral fissures, and thin upper lip. Some patients may have skeletal anomalies, such as brachydactyly, 2-3 toe syndactyly, and flat feet (summary by Alesi et al., 2019 and Uehara et al., 2019).|OMIM|N|
C5231427|Congenital lower urinary tract obstruction (LUTO) is characterized by anatomic blockage of bladder outflow due to urethral stenosis, which may be caused by posterior urethral valves in some families (Kolvenbach et al., 2019).|OMIM|N|
C5231428|Retinitis pigmentosa-86 (RP86) is characterized by night blindness followed by progressive narrowing of visual fields and decline in visual acuity, with typical findings of RP on fundus examination, including attenuated retinal vessels, waxy pallor of the optic disc, and bone spicule-like pigmentation (de Bruijn et al., 2018).
For a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000.|OMIM|N|
C5231429|Weiss-Kruszka syndrome is characterized by metopic ridging or synostosis, ptosis, nonspecific dysmorphic features, developmental delay, and autistic features. Brain imaging may identify abnormalities of the corpus callosum. Developmental delay can present as global delay, motor delay, or speech delay. Affected individuals may also have ear anomalies, feeding difficulties (sometimes requiring placement of a gastrostomy tube), and congenital heart defects. There is significant variability in the clinical features, even between affected members of the same family.|GeneReviews|N|
C5231430|Abdominal obesity-metabolic syndrome-4 (AOMS4) is characterized by obesity, hypertension, and early-onset coronary artery disease. Most affected individuals meet the criteria for metabolic syndrome, including elevated triglyceride and low high-density lipoprotein levels, and type 2 diabetes (Esteghamat et al., 2019).
For a discussion of the genetic heterogeneity of abdominal obesity-metabolic syndrome, see AOMS1 (605552).|OMIM|N|
C5231431|Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies (NEDMABA) is an autosomal recessive disorder characterized by severe global developmental delay, usually with hypotonia and absence of spontaneous movements other than head control, impaired intellectual development with absent speech, distal contractures, progressive microcephaly, dysmorphic features, and distal skeletal abnormalities, such as rocker-bottom feet and clenched hands with camptodactyly. Brain imaging tends to show a simplified gyral pattern of the cerebral cortex, delayed myelination, thin corpus callosum, and hypoplasia of the brainstem and cerebellum. The disorder may be complicated by feeding and/or breathing difficulties, often resulting in death in infancy (summary by Magini et al., 2019).|OMIM|N|
C5231432|Noonan syndrome (NS) is characterized by characteristic facies, short stature, congenital heart defect, and developmental delay of variable degree. Other findings can include broad or webbed neck, unusual chest shape with superior pectus carinatum and inferior pectus excavatum, cryptorchidism, varied coagulation defects, lymphatic dysplasias, and ocular abnormalities. Although birth length is usually normal, final adult height approaches the lower limit of normal. Congenital heart disease occurs in 50%-80% of individuals. Pulmonary valve stenosis, often with dysplasia, is the most common heart defect and is found in 20%-50% of individuals. Hypertrophic cardiomyopathy, found in 20%-30% of individuals, may be present at birth or develop in infancy or childhood. Other structural defects include atrial and ventricular septal defects, branch pulmonary artery stenosis, and tetralogy of Fallot. Up to one fourth of affected individuals have mild intellectual disability, and language impairments in general are more common in NS than in the general population.|GeneReviews|N|
C5231433|Rothmund-Thomson syndrome (RTS) is characterized by a rash that progresses to poikiloderma; sparse hair, eyelashes, and/or eyebrows; small size; skeletal and dental abnormalities; juvenile cataracts; and an increased risk for cancer, especially osteosarcoma. A variety of benign and malignant hematologic abnormalities have been reported in affected individuals. The rash of RTS typically develops between ages three and six months (occasionally as late as age two years) as erythema, swelling, and blistering on the face, subsequently spreading to the buttocks and extremities. The rash evolves over months to years into the chronic pattern of reticulated hypo- and hyperpigmentation, telangiectasias, and punctate atrophy (collectively known as poikiloderma) that persist throughout life. Hyperkeratotic lesions occur in approximately one third of individuals. Skeletal abnormalities can include radial ray defects, ulnar defects, absent or hypoplastic patella, and osteopenia.|GeneReviews|N|
C5231434|Usher syndrome type 1M (USH1M) is characterized by prelingual sensorineural hearing loss, vestibular dysfunction, and retinitis pigmentosa (Ahmed et al., 2018).
For a general phenotypic description and discussion of genetic heterogeneity of Usher syndrome, see USH1 (276900).|OMIM|N|
C5231435|Siddiqi syndrome (SIDDIS) is an autosomal recessive disorder characterized by global developmental delay, early-onset progressive sensorineural hearing impairment, regression of motor skills, dystonia, poor overall growth, and low body mass index (BMI). More variable features may include ichthyosis-like skin abnormalities or sensory neuropathy (summary by Zazo Seco et al., 2017).|OMIM|N|
C5231437|Infantile liver failure syndrome-3 is an autosomal recessive disorder characterized by recurrent episodes of acute liver failure during intercurrent febrile illness. Patients first present in infancy or early childhood, and there usually is complete recovery between episodes with conservative treatment. Affected individuals also have skeletal anomalies of the vertebral bodies and femoral heads (summary by Cousin et al., 2019).
For a discussion of genetic heterogeneity of infantile liver failure syndrome, see ILFS1 (615438).|OMIM|N|
C5231438|Spermatogenic failure-39 (SPGF39) is characterized by infertility due to asthenozoospermia. In some patients, spermatozoa exhibit multiple morphologic anomalies of the sperm flagellum (MMAF), including short, absent, irregularly shaped, and coiled flagella. Abnormalities of the sperm head and midpiece have also been observed, and ultrastructural analysis shows a lack of the outer dynein arms (ODAs) in sperm cells. In other patients, sperm do not exhibit MMAF, and ultrastructural analysis shows that many flagella lack 1 or more of microtubule doublets (MTDs) 4 to 7 at the principal piece or end piece; however, ODAs are present at the remaining MTDs (Whitfield et al., 2019; Zhang et al., 2020).
For a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).|OMIM|N|
C5231439|Osteogenesis imperfecta type XX (OI20) is a progressive deforming bone disorder characterized by osteopenia, skeletal deformity, and both healed and new fractures on radiography. Several patients have died due to respiratory failure (Moosa et al., 2019).|OMIM|N|
C5231440|Diencephalic-mesencephalic junction dysplasia syndrome-2 (DMJDS2) is an autosomal recessive neurodevelopmental disorder characterized by global developmental delay and hypotonia apparent from infancy. Affected individuals develop severe progressive hyperkinetic movements, including spastic tetraplegia, dystonia, and bulbar dysphagia necessitating tube feeding. Patients are unable to walk and have severely impaired intellectual development with absent speech. Brain imaging shows a unique malformation reflecting abnormal embryonic development of the diencephalic-mesencephalic junction (DMJ), with agenesis of the basal ganglia and olfactory bulb, hypoplasia of the thalamus, and abnormal course of the corticospinal tracts (summary by De Mori et al., 2019).
For a discussion of genetic heterogeneity of DMJDS, see DMJDS1 (251280).|OMIM|N|
C5231441|Immunodeficiency-65 (IMD65) is an autosomal recessive immunologic disorder characterized by onset of recurrent and severe viral infections from early infancy. Affected individuals have impaired ability to fight viral infections, resulting in clinically significant disease, including pneumonia, bronchiectasis, and septic shock. Laboratory studies may show lymphopenia or hypogammaglobulinemia, particularly during infection; more detailed studies show an impaired cellular type I interferon response. Treatment with intravenous immunoglobulin (IVIg) is beneficial. Important features of this disorder include the rapid development of septic shock, as well as poor outcomes after vaccination with live attenuated vaccines; such vaccines should never be administered to patients with known impaired interferon responses (summary by Hernandez et al., 2018 and Bravo Garcia-Morato et al., 2019).|OMIM|N|
C5231442|Halperin-Birk syndrome (HLBKS) is an autosomal recessive neurodevelopmental disorder characterized by structural brain defects, spastic quadriplegia with multiple contractures, profound developmental delay, seizures, dysmorphism, cataract, and optic nerve atrophy. Death occurs in early childhood (Halperin et al., 2019).|OMIM|N|
C5231443|Neurooculocardiogenitourinary syndrome (NOCGUS) is a multisystem disorder characterized by poor growth and anomalies of the ocular, craniofacial, neurologic, cardiovascular, genitourinary, skeletal, and gastrointestinal systems. Lethality before 2 years of age has been observed (Reis et al., 2019).|OMIM|N|
C5231444|Intellectual developmental disorder with impaired language and dysmorphic facies (IDDILF) is an autosomal dominant disorder characterized by global developmental delay apparent from infancy, impaired language development, and dysmorphic facial features, including hypertelorism, epicanthal folds, and abnormal palpebral fissures. Some patients may have additional findings, including feeding difficulties, mild cardiac or genitourinary defects, and distal skeletal anomalies (summary by Balak et al., 2019).|OMIM|N|
C5231445|Congenital myopathy-8 (CMYP8) is an autosomal dominant disorder of the skeletal muscle characterized by hypotonia and delayed motor development apparent from infancy or childhood, resulting in difficulties walking or loss of ambulation within the first few decades. Affected individuals show respiratory insufficiency, high-arched palate, and scoliosis; external ophthalmoplegia may also be present. Skeletal muscle biopsy shows cores and myofibrillar disorganization (Lornage et al., 2019).
For a discussion of genetic heterogeneity of congenital myopathy, see CMYP1A (117000).|OMIM|N|
C5231447|Zimmermann-Laband syndrome-3 (ZLS3) is characterized by developmental delay, intellectual disability, coarse face, gingival hyperplasia, and nail hypoplasia/aplasia (Bauer et al., 2019).
For a general phenotypic description and a discussion of genetic heterogeneity of Zimmermann-Laband syndrome, see ZLS1 (135500).|OMIM|N|
C5231448|Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies (NEDDFSA) is a global neurodevelopmental disorder with highly variable features. Patients often show poor feeding, poor overall growth, and hypotonia from early infancy, followed by mildly delayed motor development, poor language acquisition, and behavioral abnormalities. Intellectual development varies from severe with absent speech to mild with the ability to attend special schools. Common features include dysmorphic facial features with notable eye anomalies, joint hypermobility, and mild skeletal anomalies of the hands and feet (summary by Carapito et al., 2019).|OMIM|N|
C5231449|Diarrhea-11 (DIAR11) is characterized by onset of intractable malabsorptive diarrhea within the first few weeks of life (Oz-Levi et al., 2019).
For a discussion of genetic heterogeneity of diarrhea, see DIAR1 (214700).|OMIM|N|
C5231450|Developmental and epileptic encephalopathy-81 (DEE81) is an autosomal recessive neurodevelopmental disorder typically characterized by onset of severe refractory seizures soon after birth or in the first months of life. Affected individuals show little developmental progress with no eye contact and no motor or cognitive development. Other features may include facial dysmorphism, such as hypotonic facies and epicanthal folds, as well as sensorineural hearing loss and peripheral neuropathy. Brain imaging shows cerebral atrophy, impaired myelination, thin corpus callosum, and progressive leukoencephalopathy (summary by Esposito et al., 2019; Maddirevula et al., 2019).
For a discussion of genetic heterogeneity of DEE, see 308350.|OMIM|N|
C5231451|Spermatogenic failure-40 (SPGF40) is characterized by multiple morphologic abnormalities of the flagella (MMAF), including absent, short, bent, coiled, and irregular-caliber tails, resulting in severely reduced to absent motility. Patient spermatozoa may also show morphologic defects of the sperm head, with acrosomal hypoplasia or aplasia (Wang et al., 2019; Li et al., 2020).
For a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).|OMIM|N|
C5231453|Sitosterolemia, also known as phytosterolemia, is an autosomal recessive metabolic condition characterized by unrestricted intestinal absorption of both cholesterol and plant-derived cholesterol-like molecules, such as sitosterol. Patients with this disorder have very high levels of plant sterols in the plasma and develop tendon and tuberous xanthomas, accelerated atherosclerosis, and premature coronary artery disease (summary by Berge et al., 2000).
For a general phenotypic description and a discussion of genetic heterogeneity of sitosterolemia, see 210250.|OMIM|N|
C5231455|Spermatogenic failure-41 (SPGF41) is characterized by infertility due to multiple morphologic abnormalities of the flagella (MMAF). Patient semen analysis has also shown oligozoospermia, and the flagellar abnormalities include short, absent, coiled, and irregular-caliber flagella. Some sperm show tapered heads and acrosomal abnormalities (Beurois et al., 2019).
For a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).|OMIM|N|
C5231457|Dyskeratosis congenita and related telomere biology disorders (DC/TBD) are caused by impaired telomere maintenance resulting in short or very short telomeres. The phenotypic spectrum of telomere biology disorders is broad and includes individuals with classic dyskeratosis congenita (DC) as well as those with very short telomeres and an isolated physical finding. Classic DC is characterized by a triad of dysplastic nails, lacy reticular pigmentation of the upper chest and/or neck, and oral leukoplakia, although this may not be present in all individuals. People with DC/TBD are at increased risk for progressive bone marrow failure (BMF), myelodysplastic syndrome or acute myelogenous leukemia, solid tumors (usually squamous cell carcinoma of the head/neck or anogenital cancer), and pulmonary fibrosis. Other findings can include eye abnormalities (epiphora, blepharitis, sparse eyelashes, ectropion, entropion, trichiasis), taurodontism, liver disease, gastrointestinal telangiectasias, and avascular necrosis of the hips or shoulders. Although most persons with DC/TBD have normal psychomotor development and normal neurologic function, significant developmental delay is present in both forms; additional findings include cerebellar hypoplasia (Hoyeraal Hreidarsson syndrome) and bilateral exudative retinopathy and intracranial calcifications (Revesz syndrome and Coats plus syndrome). Onset and progression of manifestations of DC/TBD vary: at the mild end of the spectrum are those who have only minimal physical findings with normal bone marrow function, and at the severe end are those who have the diagnostic triad and early-onset BMF.|GeneReviews|N|
C5231458|Complex cortical dysplasia with other brain malformations-10 (CDCBM10) is an autosomal recessive neurodevelopmental disorder characterized by severely impaired global development associated with abnormalities on brain imaging, including lissencephaly, cortical dysplasia, subcortical heterotopia, and paucity of white matter. The disorder results from defective neuronal migration during brain development. Affected individuals often develop seizures, are unable to walk, and do not acquire language (summary by Lee et al., 2019).
For a discussion of genetic heterogeneity of CDCBM, see CDCBM1 (614039).|OMIM|N|
C5231459|Susceptibility to pancreatic ductal adenocarcinoma (PDAC) may be conferred by mutation in RABL3. Other cancers, including melanoma, breast cancer, and colon cancer, have been reported in RABL3 mutation-carrying individuals, with or without PDAC (Nissim et al., 2019).
For background, phenotypic description, and a discussion of genetic heterogeneity of pancreatic carcinoma, see 260350.|OMIM|N|
C5231460|Lessel-Kubisch syndrome (LSKB) is characterized by short stature and progeroid features, including prematurely gray hair, pinched facies, and scleroderma-like skin changes. Renal failure-associated hypertension and hypogonadism have also been observed (Lessel et al., 2017).|OMIM|N|
C5231461|Mitochondrial complex V (ATP synthase) deficiency nuclear type 6 (MC5DN6) is an autosomal recessive progressive and degenerative disorder characterized by episodic regression of gross motor skills beginning in early childhood. The episodes are associated with metabolic stress, including fever, illness, and general anesthesia. Patients develop gait difficulties or loss of ambulation, as well as other variable abnormalities, including abnormal movements, hemiplegia, and persistent lethargy. Brain imaging shows degenerative features in the basal ganglia and brainstem consistent with a diagnosis of Leigh syndrome (see 256000) (summary by Barca et al., 2018).
For a discussion of genetic heterogeneity of mitochondrial complex V deficiency, see MC5DN1 (604273).|OMIM|N|
C5231463|Transient infantile hypomyelinating leukodystrophy-19 (HLD19) is a disorder characterized by onset of transient neurologic abnormalities in early infancy, with resolution within the first or second decades. Affected individuals typically present in the newborn period or in early infancy with nystagmus and motor deficits associated with marked hypomyelination on brain imaging. Both neurologic impairment and abnormal brain imaging spontaneously resolve during childhood. Most patients have normal cognition and can attend regular schools, although some may have persistent neurologic deficits, such as gait ataxia, speech pronunciation defects, and/or mild cognitive impairment (summary by Yan et al., 2019).
For a discussion of genetic heterogeneity of HLD, see 312080.|OMIM|N|
C5231464|Primary ciliary dyskinesia-42 (CILD42) is an autosomal recessive disorder characterized by a defect in motile cilia and ciliary clearance resulting in the onset of respiratory insufficiency soon after birth, and associated with recurrent upper and lower respiratory infections with chronic progressive lung disease. Other more variable features may include infertility and mild hydrocephalus. Patients with this form of the disorder do not have situs abnormalities. The disorder is considered to be a type of ciliopathy known as 'reduced generation of multiple motile cilia' (RGMC) (summary by Boon et al., 2014).
For a discussion of genetic heterogeneity of primary ciliary dyskinesia, CILD1 (244400).|OMIM|N|
C5231465|Retinitis pigmentosa-87 with choroidal involvement (RP87) is characterized by a slowly progressive visual disturbance, including night blindness and reduced central and peripheral vision, accompanied by extensive choroid/retinal atrophy that mimics certain aspects of choroideremia. Disease severity and age of onset are variable, and some carriers are unaffected (Hull et al., 2016; Li et al., 2019).
For a discussion of genetic heterogeneity of RP, see 268000.|OMIM|N|
C5231466|Primary ciliary dyskinesia-43 (CILD43) is a disorder characterized by a defect in motile cilia and ciliary clearance resulting in the onset of respiratory insufficiency soon after birth, and associated with recurrent upper and lower respiratory infections with chronic progressive lung disease. Patients with this disorder also develop significant obstructive hydrocephalus requiring shunting in infancy, although adult onset of neurologic symptoms may occur. Other more variable features include infertility and about a 50% chance of situs inversus or other left-right asymmetry defects. The disorder is considered to be a type of ciliopathy known as 'reduced generation of multiple motile cilia' (RGMC) (summary by Wallmeier et al., 2019).
For a discussion of genetic heterogeneity of primary ciliary dyskinesia, CILD1 (244400).|OMIM|N|
C5231467|Short stature and microcephaly with genital anomalies (SSMGA) is characterized by severe growth failure, with extreme short stature, microcephaly, and delayed and dissociated bone age. Global psychomotor developmental delay may be present, although the brain appears structurally normal. Pubertal delay and genital anomalies have been observed (Hung et al., 2017).|OMIM|N|
C5231470|Neurodevelopmental disorder with nonspecific brain abnormalities is a highly variable syndrome characterized by impaired intellectual development and behavioral abnormalities associated with structural changes on brain imaging. Some patients have seizures, hypotonia, and scoliosis/kyphosis. Cognitive function ranges from severely impaired to the ability to attend schools with special assistance (summary by Fischer-Zirnsak et al., 2019).|OMIM|N|
C5231471|Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia (NEDBASH) is an autosomal recessive disorder characterized by severely impaired intellectual and motor development, axial and peripheral hypotonia usually with inability to walk, and significant behavioral abnormalities consistent with autism spectrum disorder and reminiscent of Rett syndrome (RTT; 312750), such as poor communication, stereotypic or repetitive behaviors, hand-wringing, bruxism, and sleep disturbances. Other features include poor overall growth, and joint hypermobility. Rare features include seizures, dystonia, spasticity, and nonspecific brain abnormalities (summary by Abu-Libdeh et al., 2019 and Dias et al., 2019).|OMIM|N|
C5231472|Congenital megabladder (MGBL) is characterized by a massively dilated bladder with disrupted smooth muscle in the bladder wall. MGBL is a sex-limited trait with 95% male predominance, likely the result of differences in urethra and bladder development and length differences in urethra between males and females (Houweling et al., 2019).|OMIM|N|
C5231473|Developmental and epileptic encephalopathy-82 (DEE82) is an autosomal recessive mitochondriopathy manifest as early-onset metabolic epileptic encephalopathy. Soon after birth, affected individuals exhibit hypotonia, feeding difficulties, and global developmental delay even before the onset of seizures in the first year of life. The severity is variable, but all patients have severely impaired intellectual development with absent speech and spastic tetraplegia. Other features include poor overall growth with microcephaly and recurrent infections. Brain imaging shows cerebral atrophy, thin corpus callosum, cerebellar hypoplasia, and white matter abnormalities. Laboratory studies show increased serum lactate and ammonia. Importantly, treatment with combined pyridoxine and serine can result in significant improvement in seizures as well as some mild developmental progress (summary by van Karnebeek et al., 2019).
For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350.|OMIM|N|
C5231474|Premature ovarian failure-16 (POF16) is characterized by onset of amenorrhea early in the fourth decade of life, accompanied by elevated follicle-stimulating hormone (FSH; see 136530) levels and low estradiol levels. Ovaries are smaller than normal and show a solid echo pattern with no antral follicle (Zhang et al., 2018).|OMIM|N|
C5231475|Heyn-Sproul-Jackson syndrome (HESJAS) is characterized by microcephalic dwarfism and global developmental delay (Heyn et al., 2019).|OMIM|N|
C5231476|Patients with intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures (IDDBCS) have impaired intellectual development or developmental delay of varying severity with impaired motor skills and language delay. Macrocephaly, obesity, and overgrowth are frequently seen. Approximately half of patients experience seizures, and neurobehavioral disorders including autism are usually present (Hamanaka et al., 2019; Kim et al., 2019).|OMIM|N|
C5231477|EDFAOB is characterized by linear hypopigmentation and craniofacial asymmetry in association with ocular, dental, and acral anomalies. Brain imaging has revealed some abnormalities, including diffuse cystic leukoencephalopathy and mildly enlarged lateral ventricles, but patients show no intellectual or neurologic impairment (Vabres et al., 2019).|OMIM|N|
C5231478|The Isidor-Toutain type of spondyloepimetaphyseal dysplasia (SEMDIST) is characterized by normal birth length, early postnatal growth deficiency, severe short stature, and genu varum. Skeletal radiographs show platyspondyly and severe epiphyseal and metaphyseal changes in the lower limbs (Le Caignec et al., 2019).|OMIM|N|
C5231479|Liang-Wang syndrome (LIWAS) is a polymalformation syndrome apparent from birth that shows large phenotypic variability and severity. However, all patients have some degree of neurologic dysfunction. The most severely affected individuals have severe global developmental delay with impaired intellectual development and poor or absent speech, marked craniofacial dysmorphism, and visceral and connective tissue abnormalities affecting the bones and vessels. The least severely affected individuals lack seizures, significant dysmorphism, and visceral involvement; they come to attention for neurologic signs and symptoms, including developmental delay with speech delay, strabismus, and/or ataxia. About half of patients have brain imaging anomalies, notably cerebral and cerebellar atrophy and thin corpus callosum, whereas the other half have normal brain imaging (summary by Liang et al., 2019).|OMIM|N|
C5231480|Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity (NEDMCMS) is an autosomal recessive disorder characterized by severe to profound global developmental delay, early-onset seizures, microcephaly, and polymicrogyria and/or cerebral atrophy on brain imaging. Most affected individuals are unable to walk or speak and have profoundly impaired intellectual development, as well as axial hypotonia and peripheral spasticity. Rare individuals may be less severely affected (summary by Vandervore et al., 2019).|OMIM|N|
C5231482|Poirier-Bienvenu neurodevelopmental syndrome (POBINDS) is a neurologic disorder characterized in most cases by early-onset seizures and variably impaired intellectual development (ID). The severity of neurologic impairment is highly variable: some patients may have refractory seizures and be bedridden with no meaningful speech, whereas others may have treatment-responsive seizures and achieve normal psychomotor development (summary by Li et al., 2019).|OMIM|N|
C5231484|Rupture of an intracranial aneurysm (IA), an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage (SAH), a sudden-onset disease that can lead to severe disability and death. Several risk factors such as smoking, hypertension, and excessive alcohol intake are associated with subarachnoid hemorrhage (summary by Krischek and Inoue, 2006).|OMIM|N|
C5231485|Patients with BAIDCS have small head circumference with abnormalities in brain anatomy including variable deficiency of the corpus callosum (including agenesis), abnormal conformation of the ventricles and posterior fossa, hypoplasia of both cerebellar hemispheres, colpocephaly, and partial rhombencephalosynapsis (absence of the cerebellar vermis with fusion of the cerebellar hemispheres). Intellectual development is moderately to severely impaired. Bicoronal synostosis, scoliosis, and tethered cord may be present (Twigg et al., 2015; Vandervore et al., 2018).
Craniosynostosis-6 (CRS6; 616602) is an allelic disorder.|OMIM|N|
C5231486|Complex cortical dysplasia with other brain malformations-15 (CDCBM15) is an autosomal recessive neurologic disorder characterized by progressive microcephaly associated with abnormal facial features, hypotonia, and variable global developmental delay with impaired intellectual development. Brain imaging shows variable malformation of cortical development on the lissencephaly spectrum, mainly pachygyria and thin corpus callosum (summary by Mitani et al., 2019).
For a discussion of genetic heterogeneity of CDCBM, see CDCBM1 (614039).|OMIM|N|
C5231487|Developmental and epileptic encephalopathy-83 (DEE83) is a severe autosomal recessive neurodevelopmental disorder characterized by onset of frequent seizures in the first days to months of life that are usually refractory to medical treatment and are associated with significant EEG abnormalities. Affected individuals have profoundly impaired development, with no motor or language skill acquisition, poor or absent visual tracking, and poor oromotor function necessitating tube feeding. Many patients die in the first years of life (summary by Perenthaler et al., 2020).
For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350.|OMIM|N|
C5231488|Spermatogenic failure-42 (SPGF42) is characterized by infertility and spermatozoa with almost no progressive motility due to multiple morphologic abnormalities of the flagella (MMAF), including short, absent, coiled, irregular-caliber, and/or bent flagella. Some spermatozoa also show abnormalities of the head, acrosome, midpiece, or endpiece (Lores et al., 2019; Liu et al., 2019).
For a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).|OMIM|N|
C5231489|Intellectual developmental disorder with hypotonia and behavioral abnormalities (IDDHBA) is a neurodevelopmental disorder characterized by onset of hypotonia and variably impaired global developmental delay in infancy. Affected individuals tend to have learning disability, usually requiring special schooling, as well as behavioral abnormalities, such as autistic features and attention deficit-hyperactivity disorder (ADHD). Additional more variable features may include nonspecific dysmorphic facial features, congenital heart defects, visual or ocular movement anomalies, and poor feeding and/or gastroesophageal reflux (summary by Calpena et al., 2019).|OMIM|N|
C5231490|Spermatogenic failure-43 (SPGF43) is characterized by infertility and spermatozoa lacking progressive motility due to multiple morphologic abnormalities of the flagella (MMAF), including short, absent, coiled, irregular-caliber, and/or bent flagella. Most flagella lack the central pair (9+0 configuration) on ultrastructural analysis (Liu et al., 2019; Sha et al., 2019; Liu et al., 2020).
For a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).|OMIM|N|
C5231491|Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements (NEDHAHM) is characterized by axial hypotonia apparent from birth, global developmental delay with impaired intellectual development and poor or absent language acquisition, and behavioral abnormalities, including autistic features, poor social interaction, and hang-wringing. Most patients have childhood-onset seizures that are usually responsive to medication, and a subset of patients develop cortical visual impairment and involuntary hyperkinetic movements, including chorea and dystonia. Some of the features are reminiscent of Rett syndrome (RTT; 312750) (summary by Salpietro et al., 2019).|OMIM|N|
C5231492|CATIFA syndrome is characterized by global developmental delay and impaired intellectual development ranging from mild to severe, with most patients exhibiting attention-deficit hyperactivity disorder (ADHD). Patients show an elongated face with long philtrum and small ears. Ocular anomalies include congenital cataracts, strabismus, and amblyopia, which may be associated with reduced vision; other anomalies include cleft lip and/or palate and misaligned teeth with extensive caries (Unlu et al., 2020).|OMIM|N|
C5231493|Joubert syndrome-36 (JBTS36) is an autosomal recessive ciliopathy characterized by global developmental delay, ocular movement abnormalities, and mesoaxial polydactyly. Brain imaging may be normal or show the classic 'molar tooth sign.' There is some phenotypic similarity to and overlap with orofaciodigital syndrome VI (OFD6; 277170) (summary by Shaheen et al., 2019).
For a discussion of genetic heterogeneity of Joubert syndrome, see JBTS1 (213300).|OMIM|N|
C5231494|Neurogenic arthrogryposis multiplex congenita-4 with agenesis of the corpus callosum (AMC4) is a severe neurologic disorder with onset in utero. Affected individuals show little or no fetal movements and are born with significant contractures affecting the upper and lower limbs, as well as dysmorphic facial features. Other abnormalities include globally impaired development, optic atrophy, agenesis of the corpus callosum, seizures, and peripheral neuropathy. Many patients die in early childhood (summary by Seidahmed et al., 2020).|OMIM|N|
C5231495|Meesmann corneal dystrophy-2 (MECD2) is characterized by fragility of the anterior corneal epithelium and the presence of intraepithelial microcysts. Although the disease is generally mild and affected individuals are often asymptomatic, some suffer from recurrent erosions leading to lacrimation, photophobia, and deterioration in visual acuity (summary by Szaflik et al., 2008).
For a discussion of genetic heterogeneity of Meesmann corneal dystrophy, see MECD1 (122100).|OMIM|N|
C5231496|Lymphatic malformation-8 (LMPHM8) is an autosomal recessive disorder in which affected fetuses die in utero due to nonimmune hydrops fetalis (NIHF). The fetus and placenta are edematous with interstitial accumulation of fluid and abnormally shaped vessels. The disorder results from impaired lymphangiogenesis. Carrier females have reduced fertility and recurrent miscarriages likely due to NIHF (summary by Mackie et al., 2018).
For a discussion of genetic heterogeneity of lymphatic malformation, see LMPHM1 (153100).|OMIM|N|
C5231497|Autosomal dominant intellectual developmental disorder-60 with seizures is characterized by global developmental delay apparent in infancy, followed by onset of seizures in the first years of life. Patients have delayed walking, an ataxic gait, and moderately to severely impaired intellectual development with poor speech (summary by Helbig et al., 2019).|OMIM|N|
C5231498|Nephrotic syndrome type 21 (NPHS21) is an autosomal recessive renal disorder characterized by onset of kidney dysfunction in the first year of life. Laboratory studies show proteinuria and renal biopsy shows diffuse mesangial sclerosis. The disorder is rapidly progressive and ultimately results in end-stage renal disease. Some patients with variable extrarenal manifestations, such as microcephaly or impaired intellectual development, have been reported, but it is not clear whether these features are consistently part of the phenotype (summary by Rao et al., 2017). (Rao et al. (2017) designated the disorder NPHS25.)
For a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome, see NPHS1 (256300).|OMIM|N|
C5231513|Haemolytic anaemia due to glutathione reductase (GSR) deficiency is characterised by nearly complete absence of GSR activity in erythrocytes.|ORDO|N|
C5231558|Any ypoalphalipoproteinemia in which the cause of the disease is a mutation in the ABCA1 gene.|MONDO|N|
C5232302|Vesicoureteral reflux induced by increased bladder pressures in patients with voiding dysfunction e.g. in case of congenital posterior urethral valves or neurogenic bladder dysfunction.|HPO|N|
C5232538|A normal or elevated serum thyroid-stimulating hormone (TSH) level in the face of an elevation in circulating FT4 and/or FT3.|HPO|N|
C5232927|A condition characterized by an abnormally high body temperature. In a hyperthermic state, the hypothalamic set-point is normal but body temperature increases and overrides the ability to lose heat, resulting from exogenous heat exposure or endogenous heat production.|NCI|N|
C5233187|Normal muscle fibers are polygonal-shaped in cross section, are multinucleated, and have minimal amounts of endomysial connective tissue. In contrast, angulated (also known as angular) muscle fibers have long and narrow vertices (corners) with sharp edges and a pointed tip.|HPO|N|
C5233737|Irregular or changing caliber (diameter) along the tail of the sperm.|HPO|N|
C5234850|A rare syndromic craniosynostosis characterized by craniosynostosis with midface hypoplasia, radiohumeral synostosis, femoral bowing and joint contractures.|ORDO|N|
C5234852|De Barsy syndrome, or autosomal recessive cutis laxa type III (ARCL3), is characterized by cutis laxa, a progeria-like appearance, and ophthalmologic abnormalities (summary by Kivuva et al., 2008).
For a phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see 219100.
Genetic Heterogeneity of de Barsy Syndrome
Also see ARCL3B (614438), caused by mutation in the PYCR1 gene (179035) on chromosome 17q25.|OMIM|N|
C5234853|A response of 4 on an illness intrusiveness scale that ranges from 1: Not Very Much to 7: Very Much.|NCI|N|
C5234856|A constellation of signs and symptoms caused by an excess of glucocorticoids. Classic features include moon facies, buffalo hump, obesity, striae and adiposity.|NCI|N|
C5234872|A squamous cell carcinoma that arises from the nasopharynx and is characterized by prominent production of keratin.|NCI|N|
C5234873|The reemergence of keratinizing squamous cell carcinoma of the nasopharynx after a period of remission.|NCI|N|
C5234880|An autosomal recessive condition caused by mutation(s) in the TTC7A gene encoding tetratricopeptide repeat protein 7A. It is characterized by multiple intestinal atresia, multi-organ impairment and associated with T- and B-cell dysfunction.|NCI|N|
C5234881|A heart sound that can be auscultated with the stethoscope on a 45-degree angle or on its side in the presence of a palpated thrill.|NCI|N|
C5234884|A neoplasm that arises from the ovary and is composed of nests of neoplastic urothelial-type cells in a fibrotic stroma. It includes benign Brenner tumor, borderline Brenner tumor, and malignant Brenner tumor.|NCI|N|
C5234908|A response indicating that a symptom does not interfere with an individual''s enjoyment of life.|NCI|N|
C5234922|An acute episode of focal or global cerebral or spinal dysfunction caused by intraparenchymal, intraventricular, or subarachnoid hemorrhage.|NCI|N|
C5234933|Environmental, occupational or consumer-based exposure to airborne gases and particulates produced by direct or nearby use of a vaporized or combusted product made from the leaves and flowers of the cannabis plant.|NCI|N|
C5234937|An abnormally decreased level of immunoglobulin G (IgG) in blood.|HPO|N|
C5234939|A condition in which neurally-mediated syncope occurs in which the blood pressure falls and the heart rate increases. (ACC-AHA)|NCI|N|
C5235018|An indication that palpation of the abdomen demonstrates no organomegaly or masses found.|NCI|N|
C5235036|A group of extremely rare, inherited, progressive skeletal conditions that result in a particular form of short stature, called short-limb dwarfism. The short stature is the result of unusually short forearms and forelegs (mesomelia) and abnormal shortening of the bones in the hands and feet (acromelia). At birth, the hands and feet may appear abnormally short and broad. Over time, the apparent disproportion becomes even more obvious, especially during the first years of life. Additional features may include: limited extension of the elbows and arms; progressive abnormal curvature of the spine; an enlarged head; and a slightly flattened midface. Acromesomelic dysplasia is inherited as an autosomal recessive trait. There are different types of acromesomelic dysplasia, which are distinguished by their genetic cause. To read more about the different types, click on the links below. Acromesomelic dysplasia, Maroteaux type Acromesomelic dysplasia, Hunter-Thompson type Acromesomelic dysplasia, Grebe type|MONDO|N|
C5235037|An obsolete term referring to a Hodgkin lymphoma that lacks inflammatory elements.|NCI|N|
C5235038|An indication that the patient has taken medication.|NCI|N|
C5235039|A decreased level of glucose-6-phosphate isomerase.|HPO|N|
C5235040|A carcinoma that arises from the pancreas showing a mixture of ductal and neuroendocrine malignant cells in both the primary tumor and in the metastatic sites.|NCI|N|
C5235061|A usually malignant, somatostatin producing neuroendocrine tumor, arising from the delta cells of the pancreas. It may or may not be associated with inappropriate secretion of somatostatin and an associated clinical syndrome.|NCI|N|
C5235081|A response of 1 on an illness intrusiveness scale that ranges from 1: Not Very Much to 7: Very Much.|NCI|N|
C5235087|Fungal infection caused by genus CRYPTOCOCCUS.|MSH|N|
C5235088|A subject score of 1 on a symptoms extent scale that ranges from 0: Not at All to 4: Very Bothered.|NCI|N|
C5235089|A subject score of 2 on a symptoms extent scale that ranges from 0: Not at All to 4: Very Bothered.|NCI|N|
C5235090|A response of 2 on an illness intrusiveness scale that ranges from 1: Not Very Much to 7: Very Much.|NCI|N|
C5235091|A subject score of 3 on a symptoms extent scale that ranges from 0: Not at All to 4: Very Bothered.|NCI|N|
C5235092|A response of 3 on an illness intrusiveness scale that ranges from 1: Not Very Much to 7: Very Much.|NCI|N|
C5235139|Spastic paraplegia-30 (SPG30) is a neurologic disorder characterized by onset of slowly progressive spastic paraplegia in the first or second decades of life. Affected individuals have unsteady spastic gait and hyperreflexia of the lower limbs. Some patients have a 'pure' form of the disorder, limited to spastic paraplegia, whereas others may have a 'complicated' form that includes cognitive dysfunction, learning disabilities, or behavioral abnormalities, peripheral sensorimotor neuropathy, urinary sphincter problems, and/or cerebellar atrophy with thin corpus callosum on brain imaging. The phenotypic features represent a spectrum of abnormalities of the central, peripheral, and autonomic nervous system (summary by Pennings et al., 2020).
For a discussion of genetic heterogeneity of autosomal dominant spastic paraplegia, see SPG3A (182600).
For a discussion of genetic heterogeneity of autosomal recessive spastic paraplegia, see SPG5A (270800).|OMIM|N|
C5235140|A decreased proportion of circulating CD4-positive helper T cells relative to total T cell count.|HPO|N|
C5235141|Severe congenital neutropenia-3 is an autosomal recessive bone marrow failure disorder characterized by low numbers of neutrophils, increased susceptibility to bacterial and fungal infections, and increased risk of developing myelodysplastic syndrome or acute myeloid leukemia. In addition, patients with HAX1 mutations affecting both isoform A and B of the gene develop neurologic abnormalities (summary by Boztug et al., 2010).
The Swedish physician Rolf Kostmann (1956) described an autosomal recessive hematologic disorder, termed infantile agranulocytosis, with severe neutropenia with an absolute neutrophil count below 0.5 x 10(9)/l and early onset of severe bacterial infections. The disorder was later termed Kostmann syndrome (Skokowa et al., 2007). Lekstrom-Himes and Gallin (2000) discussed severe congenital neutropenia in a review of immunodeficiencies caused by defects in phagocytes.
In addition to Kostmann agranulocytosis, recessively inherited neutropenic syndromes include congenital neutropenia with eosinophilia (257100), Chediak-Higashi syndrome (214500), and Fanconi pancytopenic syndrome (see 227650).
For a phenotypic description and a discussion of genetic heterogeneity of severe congenital neutropenia, see SCN1 (202700).|OMIM|N|
C5235162|An electrocardiographic finding of abnormally slow heart rate with its origin in the sinus node. Thresholds for different age, gender, and patient populations exist. (CDISC)|NCI|N|
C5235163|An electrocardiographic finding of abnormally rapid heart rate with its origin in the sinus node. Thresholds for different age, gender, and patient populations exist. (CDISC)|NCI|N|
C5235183|A subject score of 4 on a symptoms extent scale that ranges from 0: Not at All to 4: Very Bothered.|NCI|N|
C5235184|A response of 5 on an illness intrusiveness scale that ranges from 1: Not Very Much to 7: Very Much.|NCI|N|
C5235185|The daily fluid intake is unknown.|NCI|N|
C5235186|The daily caloric intake is unknown.|NCI|N|
C5235187|The daily salt intake is unknown.|NCI|N|
C5235188|A clinical finding in which palpation of the chest wall anterior to the heart reveals normal location and characteristic of the right ventricular and apical impulses without other palpable impulses. (ACC-AHA)|NCI|N|
C5235189|An indication that there are no abnormal findings on visual inspection of the abdomen.|NCI|N|
C5235193|Inspection of the region of the anterior surface of the chest and epigastrium reveals a normally shaped thorax, free from any infection, other form of disease or malformation or asymmetry; and a point of maximal impulse (apical impulse) that is a single outward impulse, usually located inside the mid clavicular point at the fifth intercostal space.|NCI|N|
C5235194|An indication that the extremities demonstrate no anomalies on visual inspection.|NCI|N|
C5235195|An indication that on visual inspection the male external genitalia demonstrate no anomalies or abnormal findings.|NCI|N|
C5235196|The focal dermal dysplasias (FFDDs) are a group of related developmental defects characterized by bitemporal or preauricular skin lesions resembling aplasia cutis congenita. Cervantes-Barragan et al. (2011) proposed a classification of FFDD in which there are 4 subtypes. FFDD1 (Brauer syndrome) is characterized by temporal skin depressions that resemble 'forceps marks.' Other facial anomalies, comprising sparse lateral eyebrows, distichiasis, and a flattened nasal tip, are usually mild. Inheritance is autosomal dominant. FFFD2 (Brauer-Setleis syndrome; 614973) is characterized by bitemporal skin lesions with variable facial findings, including thin and puckered periorbital skin, distichiasis and/or absent eyelashes, upslanting palpebral fissures, a flat nasal bridge with a broad nasal tip, large lips, and redundant facial skin. Inheritance is autosomal dominant. FFDD3 (Setleis syndrome; 227260) is characterized by the same facial features as FFDD2, but the inheritance is autosomal recessive. FFDD4 (614974) is characterized by isolated, preauricular skin lesions with autosomal dominant or recessive inheritance (summary by Slavotinek et al., 2013).
Genetic Heterogeneity of Focal Facial Dermal Dysplasia
FFDD3 (227260) is caused by mutation in the TWIST2 gene (607556) on chromosome 2q37. FFDD4 (614974) is caused by mutation in the CYP26C1 gene on chromosome 10q23.|OMIM|N|
C5235203|The location of the radiating chest pain is in the abdomen.|NCI|N|
C5235211|SPTLC1-related hereditary sensory neuropathy (HSN) is an axonal form of hereditary motor and sensory neuropathy distinguished by prominent early sensory loss and later positive sensory phenomena including dysesthesia and characteristic "lightning" or "shooting" pains. Loss of sensation can lead to painless injuries, which, if unrecognized, result in slow wound healing and subsequent osteomyelitis requiring distal amputations. Motor involvement is present in all advanced cases and can be severe. After age 20 years, the distal wasting and weakness may involve proximal muscles, possibly leading to wheelchair dependency by the seventh or eighth decade. Sensorineural hearing loss is variable.|GeneReviews|N|
C5235632|A finding that generally has features of aplasia and hypoplasia.|NCI|N|
C5235633|A finding that generally has features of apoptosis and single cell necrosis.|NCI|N|
C5235634|Stippled, granular or clumped colloid, and/or variable staining characteristics, and often contains mineralized material and desquamated follicular cells. (INHAND)|NCI|N|
C5235635|Decrease in the amount of colloid.|NCI|N|
C5235636|Increase in the amount of colloid.|NCI|N|
C5235638|Decreased number and/or size of follicles.|NCI|N|
C5235639|A finding that generally has features of decreased follicles and absent follicles.|NCI|N|
C5235640|Increased number and/or size of follicles.|NCI|N|
C5235641|A finding indicating that the epiphyseal plate is partially calcified.|NCI|N|
C5235642|An increase in the frequency of mitotic activity.|NCI|N|
C5235643|Incomplete and delayed regression of the X-zone.|NCI|N|
C5235644|The aqueous humor contains a higher than normal amount of protein.|NCI|N|
C5235645|A transformation of the cells of the thyroid characterized by enlarged follicular cells, apically displaced nuclei, and large intracellular vacuole with homogeneous eosinophilic content located at the base of follicular epithelial cells. (INHAND)|NCI|N|
C5235646|A congenital remnant of the embryonic ultimobranchial duct is present.|NCI|N|
C5235650|A nucleotide substitution at position 2499 of the coding sequence of the EGFR gene where guanine has been mutated to thymine.|NCI|N|
C5235651|A change in the amino acid residue at position 833 in the epidermal growth factor receptor protein where leucine has been replaced by phenylalanine.|NCI|N|
C5235652|A nucleotide substitution at position 2305 of the coding sequence of the EGFR gene where guanine has been mutated to thymine.|NCI|N|
C5235654|A change in the amino acid residue at position 769 in the epidermal growth factor receptor protein where valine has been replaced by leucine.|NCI|N|
C5235656|An autosomal dominant form of spinocerebellar ataxia (SCA), caused by mutation(s) in the KCND3 gene, encoding potassium voltage-gated channel subfamily D member 3. SCA19 and SCA22 were initially described independently, but the molecular basis for both conditions is mutation(s) in the KCND3 gene.|NCI|N|
C5235665|A response of 6 on an illness intrusiveness scale that ranges from 1: Not Very Much to 7: Very Much.|NCI|N|
C5235666|A response of 7 on an illness intrusiveness scale that ranges from 1: Not Very Much to 7: Very Much.|NCI|N|
C5235844|Bladder urothelial carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5235845|Ureter urothelial carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5235846|Pituitary neuroendocrine tumor that has spread from its original site of growth to nearby tissues or lymph nodes.|NCI|N|
C5235848|A parathyroid gland carcinoma that has spread from its original site of growth to nearby tissues or lymph nodes.|NCI|N|
C5235849|Metastatic pituitary neuroendocrine tumor that is not amenable to surgical resection.|NCI|N|
C5235850|A small cell glioblastoma that is resistant to treatment.|NCI|N|
C5235851|The reemergence of small cell glioblastoma after a period of remission.|NCI|N|
C5235852|Urethral urothelial carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5235853|Thyroid gland medullary carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5235854|Renal pelvis carcinoma that has spread from the original site of growth to other anatomic sites.|NCI|N|
C5235855|Renal pelvis carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5235856|Mixed adenoneuroendocrine carcinoma that arises from the digestive system and has metastasized to other anatomic sites.|NCI|N|
C5235859|Indicates that a person''s smoking status has not been recorded.|NCI|N|
C5235862|Thyroid gland medullary carcinoma that is not amenable to surgical resection.|NCI|N|
C5235863|A neuroendocrine carcinoma that has metastasized from an unknown primary site.|NCI|N|
C5235894|Adenoid cystic carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5235895|Adenoid cystic carcinoma that is not amenable to surgical resection.|NCI|N|
C5235906|Higher incidence prevalence, including earlier onset or more aggressive progression; Premature or excessive mortality from specific conditions; Greater global burden as indicated by population health measures; Poorer health behaviors and clinical outcomes (related to above); Worse self-reported outcomes measures that reflect daily functioning or symptoms from specific conditions.|NCI|N|
C5235918|An indication that there is an ambiguous morphological pattern in a tissue sample such that the presence or absence of dysplasia cannot be determined.|NCI|N|
C5235919|An indication that signs of dysplasia were not found in a sample.|NCI|N|
C5235920|A microscopy finding indicating that the ovarian capsule in a biopsy is intact.|NCI|N|
C5235922|A microscopy finding indicating that a portion of the ovarian capsule in a biopsy has ruptured.|NCI|N|
C5235923|A microscopy finding indicating that a portion of the ovarian capsule in a biopsy was fragmented.|NCI|N|
C5235924|An indication that signs of vascular invasion have not been found in a sample.|NCI|N|
C5235932|Environmental or occupational exposure to airborne gases and particulates produced when materials are rapidly oxidized via combustion.|NCI|N|
C5235933|Environmental exposure to airborne gases and particulates produced during a fire that was not caused by deliberate human actions.|NCI|N|
C5235934|Environmental or occupational exposure to airborne gases and particulates produced when coal is rapidly oxidized via combustion.|NCI|N|
C5235935|Environmental, occupational or consumer-based exposure to vaporized materials produced when food products are being cooked.|NCI|N|
C5235936|Environmental, occupational or consumer-based exposure to airborne gases and particulates produced by direct or nearby use of an electronic cigarette.|NCI|N|
C5235937|Environmental or occupational exposure to airborne gases and particulates produced when oils are rapidly oxidized via combustion.|NCI|N|
C5235938|Environmental or occupational exposure to airborne gases and particulates produced when materials are subjected to combustion in an indoor stove or fireplace.|NCI|N|
C5235939|Environmental or occupational exposure to airborne gases and particulates produced when wood is subjected to combustion.|NCI|N|
C5235940|Environmental or occupational exposure to airborne gases and particulates produced during a building fire that was not caused by deliberate human actions.|NCI|N|
C5235941|Environmental or occupational exposure to airborne gases and particulates produced during a grass fire that was not caused by deliberate human actions.|NCI|N|
C5235942|Environmental or occupational exposure to airborne gases and particulates produced during a forest fire that was not caused by deliberate human actions.|NCI|N|
C5235943|Environmental or occupational exposure to airborne gases and particulates produced during a vehicle fire that was not caused by deliberate human actions.|NCI|N|
C5235944|Dedifferentiated liposarcoma that has spread from its original site of growth to another anatomic site.|NCI|N|
C5235945|Dedifferentiated liposarcoma that has spread from its original site of growth to nearby tissues or lymph nodes.|NCI|N|
C5235946|Environmental, occupational or consumer-based exposure to airborne gases and particulates produced when an aircraft is in operation.|NCI|N|
C5235947|A malignant peripheral nerve sheath tumor that has spread from its original site of growth to nearby tissues or lymph nodes.|NCI|N|
C5235948|Environmental or occupational exposure to airborne gases and particulates produced when trees are undergoing combustion.|NCI|N|
C5235949|Alveolar soft part sarcoma that has spread from its original site of growth to nearby tissues or lymph nodes.|NCI|N|
C5235950|Environmental or occupational exposure to airborne gases and particulates produced during an electrical fire.|NCI|N|
C5235951|Alveolar soft part sarcoma that is not amenable to surgical resection.|NCI|N|
C5235952|An indication that a person was a smoker at the time they received a pathologic diagnosis.|NCI|N|
C5235953|Ewing sarcoma that has spread from its original site of growth to nearby tissues or lymph nodes.|NCI|N|
C5235954|Environmental or occupational exposure to airborne gases and particulates emitted by a factory smokestack.|NCI|N|
C5235955|Environmental or occupational exposure to airborne gases and particulates produced when trees, brush and grass in a field are burning.|NCI|N|
C5235956|Environmental, occupational or consumer-based exposure to airborne gases and particulates emitted by a boiler or furnace.|NCI|N|
C5235957|Environmental, occupational or consumer-based exposure to airborne gases and particulates produced when propane is rapidly oxidized via combustion.|NCI|N|
C5235958|Environmental, occupational or consumer-based exposure to airborne gases and particulates produced during a grease fire.|NCI|N|
C5235959|Environmental, occupational or consumer-based exposure to airborne gases and particulates produced by direct or nearby use of a vaporized or combusted product made from cannabis plant resin.|NCI|N|
C5235960|Environmental or occupational exposure to airborne gases and particulates produced when coal is subjected to combustion in an indoor stove or fireplace.|NCI|N|
C5235961|Environmental or occupational exposure to airborne gases and particulates produced when wood is subjected to combustion in an indoor stove or fireplace.|NCI|N|
C5235962|Environmental or occupational exposure to airborne gases and particulates through the direct or nearby use of a machine.|NCI|N|
C5235963|An indication that a subject has no history of smoke exposure from any source.|NCI|N|
C5235964|Environmental, occupational or consumer-based exposure to airborne gases and particulates produced when kerosene is rapidly oxidized via combustion.|NCI|N|
C5235965|Environmental, occupational or consumer-based exposure to airborne gases and particulates produced when materials (usually wood) are burned for recreational purposes.|NCI|N|
C5235966|Environmental, occupational or consumer-based exposure to airborne gases and particulates produced during indoor smoke curing of food products.|NCI|N|
C5235968|Environmental, occupational or consumer-based exposure to airborne gases and particulates produced by direct or nearby use of a cigar.|NCI|N|
C5235969|Environmental, occupational or consumer-based exposure to airborne gases and particulates produced by direct or nearby use of a cigarette.|NCI|N|
C5235970|Environmental, occupational or consumer-based exposure to airborne gases and particulates produced by direct or nearby use of a tobacco pipe.|NCI|N|
C5235971|Environmental exposure to airborne gases and particulates produced by a volcanic event.|NCI|N|
C5235972|Environmental or occupational exposure to airborne gases and particulates produced when trash or waste is burned.|NCI|N|
C5235973|Environmental or occupational exposure to airborne gases and particulates produced when wood is burned in a factory setting.|NCI|N|
C5235974|Occupational exposure to airborne gases and particulates produced when materials undergo combustion or thermal decomposition.|NCI|N|
C5235975|Occupational exposure to airborne gases and particulates during the operation of a machine that produces artificial smoke.|NCI|N|
C5235976|Occupational exposure to airborne gases and particulates while preventing, controlling or extinguishing fires.|NCI|N|
C5235977|Occupational exposure to airborne gases and particulates during the operation of a foundry.|NCI|N|
C5235978|Occupational exposure to airborne gases and particulates during the operation of a power generator.|NCI|N|
C5235986|Occupational exposure to airborne gases and particulates during a military posting or deployment.|NCI|N|
C5235987|Occupational exposure to airborne gases and particulates during the operation of a paint oven.|NCI|N|
C5235989|Occupational exposure to airborne gases and particulates during the manufacturing of plastics.|NCI|N|
C5235990|Occupational exposure to airborne gases and particulates during the installation of plumbing pipes and fixtures.|NCI|N|
C5235991|Occupational exposure to airborne gases and particulates during the operation of a soldering iron or welding machine.|NCI|N|
C5235992|An indication that less than 5 minutes passes between waking and smoking the first cigarette of the day.|NCI|N|
C5235993|A subjective response indicating that an individual is not at all comfortable.|NCI|N|
C5235994|An indication that between 6 and 30 minutes passes between waking and smoking the first cigarette of the day.|NCI|N|
C5235995|An indication that between 31 and 60 minutes passes between waking and smoking the first cigarette of the day.|NCI|N|
C5235996|An indication that more than 60 minutes passes between waking and smoking the first cigarette of the day.|NCI|N|
C5235997|A subjective response indicating that an individual is or was somewhat comfortable.|NCI|N|
C5235998|A subjective response indicating that an individual is or was moderately comfortable.|NCI|N|
C5235999|A subjective response indicating that an individual is or was very comfortable.|NCI|N|
C5236000|A subjective response indicating that an individual is or was extremely comfortable.|NCI|N|
C5236001|A subjective response indicating that something is or was substantially decreased.|NCI|N|
C5236002|A subjective response indicating that something is or was increased.|NCI|N|
C5236003|A subjective response indicating that something is or was substantially increased.|NCI|N|
C5236006|A subjective response indicating that something is or was very much improved.|NCI|N|
C5236008|A carcinoma arising from the genitourinary system. Representative examples include kidney carcinoma, bladder carcinoma, prostate carcinoma, endometrial carcinoma, cervical carcinoma, and ovarian carcinoma.|NCI|N|
C5236010|A genitourinary system carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5236017|A rare, highly aggressive renal cell carcinoma caused by germline or (in a subset) somatic mutation of fumarate hydratase gene. It arises mostly in the setting of hereditary leiomyomatosis-renal cell carcinoma syndrome.|NCI|N|
C5236018|A disease or disorder that occurs soon after or as a result of a surgical procedure.|NCI|N|
C5236019|Renal pelvis and ureter urothelial carcinoma that has spread from its original site of growth to nearby tissues or lymph nodes.|NCI|N|
C5236020|Renal pelvis and ureter urothelial carcinoma that is not amenable to surgical resection.|NCI|N|
C5236021|Alopecia caused by treatment with chemotherapeutic agents.|NCI|N|
C5236024|An indication of an individual''s current vaping use.|NCI|N|
C5236025|A person who uses a vaping device at the present time.|NCI|N|
C5236027|A variation in the amino acid sequence for tyrosine-protein kinase ABL1.|NCI|N|
C5236028|A change in the amino acid residue at position 34 in the tyrosine-protein kinase ABL1 protein where alanine has been replaced by valine.|NCI|N|
C5236029|A change in the amino acid residue at position 1245 in the ALK tyrosine kinase receptor protein where phenylalanine has been replaced by isoleucine.|NCI|N|
C5236030|A nucleotide substitution at position 3733 of the coding sequence of the ALK gene where thymine has been mutated to adenine.|NCI|N|
C5236031|A variation in the amino acid sequence for adenomatosis polyposis coli protein.|NCI|N|
C5236032|A change in the amino acid residue at position 917 in the adenomatosis polyposis coli protein where aspartic acid has been replaced by tyrosine.|NCI|N|
C5236035|A change in the nucleotide sequence of the B2M gene.|NCI|N|
C5236036|A nucleotide substitution at position 2 of the coding sequence of the B2M gene where thymine has been mutated to guanine.|NCI|N|
C5236037|A variation in the amino acid sequence for the beta-2-microglobulin protein.|NCI|N|
C5236038|A change in the amino acid residue at position 1 in the beta-2-microglobulin protein where methionine has been replaced by arginine.|NCI|N|
C5236039|A genetic abnormality that arises from tandem duplications of the exon encoding the C-terminus of the BCL-6 corepressor (BCOR) protein, which results in constitutive activation of BCOR protein and its downstream signaling pathways.|NCI|N|
C5236040|A duplication of the amino acid residues at positions 504, 505 and 506 in the serine/threonine protein kinase B-raf protein that result in a duplication of the sequence valine-leucine-arginine prior to the lysine at residue 507.|NCI|N|
C5236041|A change in the amino acid residue at position 320 in the serine/threonine protein kinase B-raf protein where alanine has been replaced by valine.|NCI|N|
C5236042|A finding of a neoplastic disease in the abdominal cavity, excluding pancreatic neoplastic disease.|NCI|N|
C5236043|Prostate adenocarcinoma that metastasizes quickly to other anatomic sites. It usually has a Gleason score between 8 and 10, a PSA level higher than 20 ng/ml, and is classified as T3b or T4.|NCI|N|
C5236044|A term that refers to the staging of prostate adenocarcinoma according to the American Joint Committee on Cancer, 7th edition.|NCI|N|
C5236048|A molecular abnormality indicating the absence of the SDH protein complex.|NCI|N|
C5236049|A molecular abnormality indicating the absence of FH protein.|NCI|N|
C5236050|A change in the nucleotide sequence of the FGFR2 gene that that results in constitutive activation of fibroblast growth factor 2 and its downstream signaling pathways.|NCI|N|
C5236051|A change in the nucleotide sequence of the FGFR1 gene that that results in constitutive activation of fibroblast growth factor 1 and its downstream signaling pathways.|NCI|N|
C5236057|A finding indicating elevated concentrations of LIF in a sample.|NCI|N|
C5236058|A cytogenetic abnormality that refers to a translocation involving the BRD4 gene.|NCI|N|
C5236059|A molecular abnormality indicating rearrangement of the PAX3 gene.|NCI|N|
C5236060|A cytogenetic abnormality that refers to a translocation involving the BRD3 gene.|NCI|N|
C5236063|Pancreatic ductal adenocarcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5236069|A group of signs that often occurs in response to increased intracranial pressure: hypertension, bradycardia, and irregular breathing.|NCI|N|
C5236070|An individual who stopped smoking within the past 12 months.|NCI|N|
C5236071|A person who uses a vaping device at least once every day.|NCI|N|
C5236073|Colon carcinoma that has developed in relatives of patients with a history of colon carcinoma.|NCI|N|
C5236074|Indicates the person or authoritative body who made an identification.|NCI|N|
C5236081|Clear cell renal cell carcinoma that is resistant to treatment.|NCI|N|
C5236088|A malignant PEComa that has spread from its original site of growth to another anatomic site.|NCI|N|
C5236089|A malignant PEComa that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5236090|A malignant PEComa that has spread from its original site of growth to nearby tissues or lymph nodes and is not amenable to surgical resection.|NCI|N|
C5236091|A papilloma with an exophytic growth arising from the sinonasal track.|NCI|N|
C5236092|An invasive urothelial carcinoma that exhibits spindle cell sarcomatoid features.|NCI|N|
C5236093|A microscopic finding indicating the presence of two cellular neoplastic components, neuroendocrine and non-neuroendocrine, in a tissue sample.|NCI|N|
C5236094|A papilloma that arises from the ciliated respiratory mucosa that lines the nasal cavity.|NCI|N|
C5236096|A deletion of eleven nucleotides from the coding sequence of the CCND3 gene from position 766 through 776.|NCI|N|
C5236097|A variation in the amino acid sequence for the G1/S-specific cyclin-D3 protein.|NCI|N|
C5236098|A change in the nucleotide sequence of the CD74 gene.|NCI|N|
C5236099|A variation in the amino acid sequence for the HLA class II histocompatibility antigen gamma chain protein.|NCI|N|
C5236100|A change in the amino acid residue at position 98 in the HLA class II histocompatibility antigen gamma chain protein where proline has been replaced by serine.|NCI|N|
C5236101|A nucleotide substitution at position 1 of the coding sequence of the CDC73 gene where adenine has been mutated to guanine.|NCI|N|
C5236102|A variation in the amino acid sequence for the parafibromin protein.|NCI|N|
C5236103|A change in the amino acid residue at position 1 in the parafibromin protein where methionine has been replaced by valine.|NCI|N|
C5236104|A nucleotide substitution at position 305 of the coding sequence of the CDKN2A gene where cytosine has been mutated to thymine.|NCI|N|
C5236105|A change in the amino acid residue at position 102 in the cyclin-dependent kinase inhibitor 2 protein where alanine has been replaced by valine.|NCI|N|
C5236106|A change in the amino acid residue at position 80 in the cyclin-dependent kinase inhibitor 2 protein where arginine has been replaced by another amino acid.|NCI|N|
C5236107|A variation in the amino acid sequence for the macrophage colony-stimulating factor 1 receptor protein.|NCI|N|
C5236108|A nucleotide substitution at position 1085 of the coding sequence of the CSF1R gene where adenine has been mutated to guanine.|NCI|N|
C5236109|A change in the amino acid residue at position 362 in the macrophage colony-stimulating factor 1 receptor protein where histidine has been replaced by arginine.|NCI|N|
C5236110|A change in the amino acid residue at position 648 in the macrophage colony-stimulating factor 1 receptor protein where asparagine has been replaced by serine.|NCI|N|
C5236111|A variation in the amino acid sequence for the granulocyte colony-stimulating factor receptor protein.|NCI|N|
C5236112|A change in the amino acid residue at position 751 in the granulocyte colony-stimulating factor receptor protein where glycine has been replaced by alanine.|NCI|N|
C5236114|A variation in the amino acid sequence for the catenin beta-1 protein.|NCI|N|
C5236115|A nucleotide substitution at position 121 of the coding sequence of the CTNNB1 gene where adenine has been mutated to guanine.|NCI|N|
C5236116|A change in the amino acid residue at position 41 in the catenin beta-1 protein where threonine has been replaced by alanine.|NCI|N|
C5236117|A change in the amino acid residue at position 742 in the discoidin domain-containing receptor 2 protein where arginine has been replaced by tryptophan.|NCI|N|
C5236120|A variation in the amino acid sequence for the endoribonuclease Dicer protein.|NCI|N|
C5236121|A nucleotide substitution at position 5438 of the coding sequence of the DICER1 gene where adenine has been mutated to guanine.|NCI|N|
C5236122|A change in the amino acid residue at position 1813 in the endoribonuclease Dicer protein where glutamic acid has been replaced by aspartic acid.|NCI|N|
C5236123|A change in the amino acid residue at position 1225 in the endoribonuclease Dicer protein where tyrosine has been replaced by another amino acid.|NCI|N|
C5236124|A variation in the amino acid sequence for the DNA (cytosine-5)-methyltransferase 3A protein.|NCI|N|
C5236125|A nucleotide substitution at position 2711 of the coding sequence of the DNMT3A gene where cytosine has been mutated to thymine.|NCI|N|
C5236126|A change in the amino acid residue at position 904 in the DNA (cytosine-5)-methyltransferase 3A protein where proline has been replaced by leucine.|NCI|N|
C5236127|A change in the nucleotide sequence of the DPYD gene.|NCI|N|
C5236128|A nucleotide substitution at position 1627 of the coding sequence of the DPYD gene where adenine has been mutated to guanine.|NCI|N|
C5236129|A variation in the amino acid sequence for the dihydropyrimidine dehydrogenase [NADP(+)] protein.|NCI|N|
C5236130|A change in the amino acid residue at position 543 in the dihydropyrimidine dehydrogenase [NADP(+)] protein where isoleucine has been replaced by valine.|NCI|N|
C5236133|A response indicating that an individual needs help with moving from wheelchair to bed and return.|NCI|N|
C5236134|A response indicating that an individual is able to use the toilet with help.|NCI|N|
C5236135|A response indicating that an individual is able to walk on a level surface with help.|NCI|N|
C5236136|A response indicating that an individual is able to walk on a level surface independent of help from others.|NCI|N|
C5236137|A response indicating that an individual is able propel their wheelchair with help.|NCI|N|
C5236138|A response indicating that an individual is able to propel their wheelchair independent of help from others.|NCI|N|
C5236139|A response indicating that an individual is able to control their bowels with help.|NCI|N|
C5236140|A response indicating that an individual is able to control their bladder with help.|NCI|N|
C5236141|A response indicating that an individual is able to control their bladder independent of help from others.|NCI|N|
C5236142|A malignant peripheral nerve sheath tumor that is not amenable to surgical resection.|NCI|N|
C5236143|A malignant peripheral nerve sheath tumor that is associated with NF1 gene inactivation and a history of neurofibromatosis type 1.|NCI|N|
C5236144|A malignant peripheral nerve sheath tumor that is not caused by inherited genetic mutations.|NCI|N|
C5236145|A malignant peripheral nerve sheath tumor that is the result of exposure to ionizing radiation.|NCI|N|
C5236162|The age of a subject when entering a group, catalog, list, or study.|NCI|N|
C5236164|A finding or observation that is made during surgery.|NCI|N|
C5236167|An indication that the subject has not fulfilled the criteria needed to continue to the next study period.|NCI|N|
C5236168|An indication that the informed consent processes or procedures defined the study protocol were not followed.|NCI|N|
C5236169|An indication that the trial randomization processes or procedures defined in the study protocol were not followed.|NCI|N|
C5236170|An indication that a subject''s treatment was not discontinued as per the protocol.|NCI|N|
C5236171|An indication that a protocol deviation involved the trial processes or procedures defined in the study protocol.|NCI|N|
C5236172|An indication that a protocol deviation involved a study agent.|NCI|N|
C5236173|An indication that a concomitant agent was administered but this agent was not permitted by the protocol.|NCI|N|
C5236174|An indication that a protocol deviation involved a lab test or procedure, an imaging event, or some other investigation.|NCI|N|
C5236175|An indication that a protocol deviation was due to a failure to report a serious adverse event within the timeframe established in the study protocol.|NCI|N|
C5236176|An indication that a subject''s safely follow up did not occur as required by the study protocol.|NCI|N|
C5236177|An indication that a subject''s baseline assessments did not occur within the time window required by the study protocol.|NCI|N|
C5236178|An indication that a subject''s disease outcome or response is not covered by the study protocol.|NCI|N|
C5236179|An indication that a protocol deviation involved a study device.|NCI|N|
C5236200|The response to a defined eligibility criterion question.|NCI|N|
C5236225|The completed activity within the context of a given study that represents the result of a genetic assessment.|NCI|N|
C5236226|The completed activity within the context of a given study that represents the results of a histopathology assessment.|NCI|N|
C5236236|The outcome of an intended experimental unit allocation.|NCI|N|
C5236246|The state of the statistical analysis plan.|NCI|N|
C5236248|Status of finding and enrolling appropriate study subjects at an individual study site.|NCI|N|
C5236292|The rationale for why the condition state changed.|NCI|N|
C5236420|The age of the entity from which another entity is derived.|NCI|N|
C5236440|The aggregate of past events related to the subject''s life.|NCI|N|
C5236957|Liver and intrahepatic bile duct carcinoma that is not amenable to surgical resection.|NCI|N|
C5236958|Carcinoma that arises from the ampulla of Vater and is not amenable to surgical resection.|NCI|N|
C5236959|Adenocarcinoma that arises from the periampullary region and is not amenable to surgical resection.|NCI|N|
C5236960|Carcinoma that arises from the head and neck region and is not amenable to surgical resection.|NCI|N|
C5236962|Nasopharyngeal carcinoma that is not amenable to surgical resection.|NCI|N|
C5236972|A soft tissue sarcoma that arises from the trunk or the extremities.|NCI|N|
C5236975|An indication that biochemical markers of a disease are present.|NCI|N|
C5236976|An indication that a finding of complete response to treatment has not been confirmed.|NCI|N|
C5236978|An indication that a subject has used or is using medication to treat gastrointestinal reflux.|NCI|N|
C5236980|An indication that some disease characteristics are improving while others are worsening over time.|NCI|N|
C5236982|An indication that the treatment for a patient is not relieving symptoms or providing comfort.|NCI|N|
C5236983|An indication that distant metastases have remained despite treatment.|NCI|N|
C5236984|An indication that a patient''s disease is responding to treatment.|NCI|N|
C5236985|Paradoxical acceleration of tumor progression following the initiation of therapy.|NCI|N|
C5236986|An indication that the radiographically detectable signs of disease are becoming more prominent over time.|NCI|N|
C5236987|An indication that a subject is still undergoing therapy to prevent, mitigate or cure a disease.|NCI|N|
C5237002|A loss of three consecutive nucleotides (one codon) or multiple codons in a gene that encodes for a protein where one or more canonical amino acids are deleted but does not result in a frameshift mutation.|NCI|N|
C5237003|A gain of three consecutive nucleotides (one codon) or multiple codons in a gene that encodes for a protein where one or more non-wildtype amino acids are inserted but does not result in a frameshift mutation.|NCI|N|
C5237004|A ribonucleotide variation in the sequence of a fully processed microRNA.|NCI|N|
C5237005|A chromosomal abnormality in which the total chromosome number is slightly more (hyperdiploid) or slightly less (hypodiploid) than the normal diploid number.|NCI|N|
C5237007|A rearrangement where nonreciprocal transfer of genetic information between two sites in the genome lead to the deletion of one sequence and the duplication of the transferred sequence.|NCI|N|
C5237008|An indication that 10-90% of the CpG islands in a gene or gene promoter have detectable methylation.|NCI|N|
C5237017|The reemergence of diffuse large B-cell lymphoma, not otherwise specified after a period of remission.|NCI|N|
C5237018|Diffuse large B-cell lymphoma, not otherwise specified that is resistant to treatment.|NCI|N|
C5237021|A cytogenetic abnormality that refers to any translocation involving the NUTM1 gene.|NCI|N|
C5237023|An indication that reduced expression of Wiskott-Aldrich Syndrome protein (WASP; WASp) has been detected in a sample.|NCI|N|
C5237025|A cytogenetic abnormality that involves a translocation between chromosomes 17 and 19.|NCI|N|
C5237027|An indication that the ratio of prostate cancer antigen 3 (PCA3) RNA to prostate specific antigen (PSA) mRNA multiplied by 1000 is greater than 35.|NCI|N|
C5237029|Malignant mesothelioma that has spread from its original site of growth to another anatomic site.|NCI|N|
C5237030|The reemergence of neuroendocrine carcinoma after a period of remission.|NCI|N|
C5237031|A finding indicating the presence of an invasive upper aerodigestive tract malignancy.|NCI|N|
C5237034|An exceedingly rare solid pseudopapillary tumor that occurs in ectopic pancreatic tissue in the ovary.|NCI|N|
C5237035|The reemergence of ovarian high-grade serous adenocarcinoma after a period of remission.|NCI|N|
C5237037|The reemergence of fallopian tube endometrioid adenocarcinoma after a period of remission.|NCI|N|
C5237039|The reemergence of fallopian tube high-grade serous adenocarcinoma after a period of remission.|NCI|N|
C5237040|The reemergence of primary peritoneal high-grade serous adenocarcinoma after a period of remission.|NCI|N|
C5237041|The reemergence of primary peritoneal endometrioid adenocarcinoma after a period of remission.|NCI|N|
C5237053|The reemergence of endometrial dedifferentiated carcinoma after a period of remission.|NCI|N|
C5237054|The reemergence of endometrial squamous cell carcinoma after a period of remission.|NCI|N|
C5237055|The reemergence of endometrial transitional cell carcinoma after a period of remission.|NCI|N|
C5237056|The reemergence of moderate-severe chronic graft versus host disease after a period of remission.|NCI|N|
C5237057|Endometrial dedifferentiated carcinoma that is resistant to treatment.|NCI|N|
C5237058|Endometrial transitional cell carcinoma that is resistant to treatment.|NCI|N|
C5237059|Endometrial transitional cell carcinoma that is resistant to treatment.|NCI|N|
C5237060|Endometrial adenocarcinoma that is resistant to treatment.|NCI|N|
C5237061|Endometrial mucinous adenocarcinoma that is resistant to treatment.|NCI|N|
C5237062|The reemergence of endometrial mucinous adenocarcinoma after a period of remission.|NCI|N|
C5237064|Liver and intrahepatic bile duct carcinoma that is amenable to surgical resection.|NCI|N|
C5237066|Myelodysplastic syndrome with more than 6 points, according to the revised International Prognostic Scoring System (IPSS-R).|NCI|N|
C5237067|The reemergence of very high-risk myelodysplastic syndrome after a period of remission.|NCI|N|
C5237068|Very high-risk myelodysplastic syndrome that is resistant to treatment.|NCI|N|
C5237069|Endometrial undifferentiated carcinoma that is resistant to treatment.|NCI|N|
C5237070|A Merkel cell carcinoma that has metastasized from its original site of growth to distal anatomic sites or is no longer responding to treatment.|NCI|N|
C5237165|An indication that a the surfaces of cells in sample have detectable amounts of a glycosylated mucin-1 protein (MUC1) that includes a cancer-specific truncated O-glycan modification.|NCI|N|
C5237170|A skin reaction characterized by scaling and pruritus.|NCI|N|
C5237171|A skin reaction characterized by sloughing of the epidermis and serous exudate.|NCI|N|
C5237172|A response that indicates less then twenty-five percent.|NCI|N|
C5237173|A response that indicates between twenty-five and fifty percent.|NCI|N|
C5237174|A response that indicates between fifty and seventy-five percent.|NCI|N|
C5237175|A response that indicates greater than seventy-five percent.|NCI|N|
C5237187|A lung neuroendocrine neoplasm that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5237188|A pancreatic neuroendocrine neoplasm that has spread from its original site of growth to another anatomic site.|NCI|N|
C5237189|A pancreatic neuroendocrine neoplasm that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5237190|Clear cell renal cell carcinoma that is not amenable to surgical resection.|NCI|N|
C5237191|Pancreatic ductal adenocarcinoma that is resistant to treatment.|NCI|N|
C5237193|Pancreatic carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5237194|A neuroendocrine tumor that is not amenable to surgical resection.|NCI|N|
C5237195|A lung neuroendocrine neoplasm that is not amenable to surgical resection.|NCI|N|
C5237196|A digestive system neuroendocrine neoplasm that is not amenable to surgical resection.|NCI|N|
C5237197|A pancreatic neuroendocrine neoplasm that is not amenable to surgical resection.|NCI|N|
C5237199|An ovarian carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5237202|A response that indicates that the degree of erythematous color change is dusky pink.|NCI|N|
C5237203|A response that indicates that the degree of erythematous color change is dull red.|NCI|N|
C5237204|A response that indicates that the degree of erythematous color change is brilliant red.|NCI|N|
C5237205|A response that indicates that the degree of erythematous color change is deep red-purple.|NCI|N|
C5237206|A verrucous carcinoma that arises from the skin. It usually affects the palms, soles, and distal digits.|NCI|N|
C5237207|A rare squamous cell carcinoma of the skin characterized by the presence of multinucleated non-neoplastic giant cells that resemble osteoclasts.|NCI|N|
C5237208|A rare carcinoma of the skin characterized by the presence of squamous cell carcinomatous and sarcomatous components.|NCI|N|
C5237209|A group of hereditary neoplastic syndromes that affect the colon and rectum. Included in this grouping are hereditary nonpolyposis colorectal cancer (HNPCCC) , familial adenomatous polyposis (FAP), and the hamartomatous polyposis syndromes.|NCI|N|
C5237210|Laryngeal squamous cell carcinoma that has spread from its original site of growth to nearby tissues or lymph nodes.|NCI|N|
C5237211|A squamous cell carcinoma of unknown primary that has spread from its original site of growth to nearby tissues or lymph nodes.|NCI|N|
C5237212|A finding indicating that a patient has been exposed to psoralen and ultraviolet A (PUVA) therapy for a benign or malignant condition.|NCI|N|
C5237215|Cardiomyopathy resulting from the deposition of misfolded transthyretin. The condition can be classified by the presence (hereditary transthyretin amyloid) or absence (wild-type transthyretin amyloid) of mutation(s) in the TTR gene, encoding transthyretin.|NCI|N|
C5237216|An indication that an individual is employed in their home, either raising children full-time or keeping house.|NCI|N|
C5237217|Transthyretin amyloid cardiomyopathy caused by mutation(s) in the TTR gene, encoding transthyretin.|NCI|N|
C5237218|A change in the amino acid residue at position 836 in the receptor-type tyrosine-protein kinase FLT3 protein where isoleucine has been replaced by another amino acid.|NCI|N|
C5237219|Triple-negative breast carcinoma that is not amenable to surgical resection.|NCI|N|
C5237223|A morphologic finding indicating the presence of melanin-pigmented epithelioid cells in a tumor sample.|NCI|N|
C5237225|A change in the nucleotide sequence of the CDH1 gene that is associated with a pathogenic or likely pathogenic prognosis.|NCI|N|
C5237226|Hyperplasia of the immature cells located between the surface columnar epithelium and the basal layer.|NCI|N|
C5237230|A finding indicating that the blood concentration of prostate specific antigen in a subject''s sample has decreased by at least 50 percent from the concentration recorded for a previous sample from that subject.|NCI|N|
C5237232|A finding indicating that the blood concentration of prostate specific antigen in a subject''s sample has decreased by at least 25 percent from the concentration recorded for a previous sample from that subject.|NCI|N|
C5237234|Tinnitus that is caused by exposure to cisplatin.|NCI|N|
C5237241|A finding indicating the presence of at least two morphologic components in a melanocytic tumor sample.|NCI|N|
C5237242|A group of cutaneous melanocytic neoplasms that includes the combined BAP1-inactivated nevus and the BAP1-inactivated melanocytoma.|NCI|N|
C5237243|A combined nevus with a spitzoid component and inactivation of BAP1.|NCI|N|
C5237244|A cutaneous melanocytoma with inactivation of BAP1, highly atypical large epithelioid cells, and marked pleomorphism.|NCI|N|
C5237247|A nevus that contains two or more melanocytic nevus components in the same lesion. The cellular components can be any combination of any nevus variants, but most frequently, a common nevus component is combined with a blue nevus, deep penetrating nevus, or Spitz nevus component. (WHO 2018)|NCI|N|
C5237248|Acral lentiginous melanoma that is not amenable to surgical resection.|NCI|N|
C5237249|Mucosal melanoma that is not amenable to surgical resection.|NCI|N|
C5237253|A malignant solid neoplasm characterized by the expression of antigens resulting from cancer-specific mutations (neoantigens).|NCI|N|
C5237255|A malignant solid neoplasm that expresses unique tumor-specific neoantigens in a single patient.|NCI|N|
C5237256|A malignant solid neoplasm that expresses unique tumor-specific neoantigens across a subset of patients.|NCI|N|
C5237269|Laryngeal carcinoma that has spread from its original site of growth to nearby tissues or lymph nodes.|NCI|N|
C5237270|Pharyngeal carcinoma that has spread from its original site of growth to nearby tissues or lymph nodes.|NCI|N|
C5237271|Lip and oral cavity carcinoma that has spread from its original site of growth to nearby tissues or lymph nodes.|NCI|N|
C5237272|Paranasal sinus carcinoma that has spread from its original site of growth to nearby tissues or lymph nodes.|NCI|N|
C5237273|A variation in the amino acid sequence for the general transcription and DNA repair factor IIH helicase subunit XPD protein.|NCI|N|
C5237274|A change in the amino acid residue at position 332 in the general transcription and DNA repair factor IIH helicase subunit XPD protein where phenylalanine has been replaced by valine.|NCI|N|
C5237276|A variation in the amino acid sequence for phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN.|NCI|N|
C5237277|A nucleotide substitution at position 388 of the coding sequence of the PTEN gene where cytosine has been mutated to guanine.|NCI|N|
C5237278|A change in the amino acid residue at position 130 in the phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN protein where arginine has been replaced by glycine.|NCI|N|
C5237279|A nucleotide substitution at position 389 of the coding sequence of the PTEN gene where guanine has been mutated to thymine.|NCI|N|
C5237280|A change in the amino acid residue at position 130 in the phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN protein where arginine has been replaced by leucine.|NCI|N|
C5237281|A nucleotide substitution at position 389 of the coding sequence of the PTEN gene where guanine has been mutated to cytosine.|NCI|N|
C5237282|A change in the amino acid residue at position 130 in the phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN protein where arginine has been replaced by proline.|NCI|N|
C5237283|A nucleotide substitution at position 389 of the coding sequence of the PTEN gene where guanine has been mutated to adenine.|NCI|N|
C5237284|A change in the amino acid residue at position 130 in the phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN protein where arginine has been replaced by glutamine.|NCI|N|
C5237285|A nucleotide substitution at position 523 of the coding sequence of the TP53 gene where cytosine has been mutated to thymine.|NCI|N|
C5237286|A change in the amino acid residue at position 175 in the cellular tumor antigen p53 protein where arginine has been replaced by cysteine.|NCI|N|
C5237287|A nucleotide substitution at position 817 of the coding sequence of the TP53 gene where cytosine has been mutated to adenine.|NCI|N|
C5237288|A change in the amino acid residue at position 273 in the cellular tumor antigen p53 protein where arginine has been replaced by serine.|NCI|N|
C5237289|Acute graft versus host disease that is resistant to treatment.|NCI|N|
C5237300|A nucleotide substitution at position 1394 of the coding sequence of the FBXW7 gene where guanine has been mutated to adenine.|NCI|N|
C5237301|A variation in the amino acid sequence for F-box/WD repeat-containing protein 7.|NCI|N|
C5237302|A change in the amino acid residue at position 465 in the F-box/WD repeat-containing protein 7 where arginine has been replaced by histidine.|NCI|N|
C5237305|Differentiated thyroid gland carcinoma that is resistant to treatment.|NCI|N|
C5237306|Thyroid gland papillary carcinoma that is resistant to treatment.|NCI|N|
C5237307|Thyroid gland follicular carcinoma that is resistant to treatment.|NCI|N|
C5237308|The reemergence of differentiated thyroid gland carcinoma after a period of remission.|NCI|N|
C5237318|A defect or discontinuity of bone resulting from a pathologic process, including trauma and degenerative or neoplastic processes.|NCI|N|
C5237319|A radiologic finding of an area of bone resulting from decreased absorption of the radiation used in the imaging process.|NCI|N|
C5237322|A gastric adenocarcinoma that arises from the proximal part of the stomach.|NCI|N|
C5237324|A proximal gastric adenocarcinoma that has spread from its original site of growth to another anatomic site.|NCI|N|
C5237325|A malignant neoplasm that arises from the pancreas and has not spread to other anatomic sites.|NCI|N|
C5237338|A pain syndrome characterized by epigastric and mid-back pain, typically experienced as a dull or aching pain. Frequent causes include pancreatic cancer and retroperitoneal lymphadenopathy.|NCI|N|
C5237343|A finding indicating a body mass index measurement less than or equal to 30.|NCI|N|
C5237349|A finding indicating a high degree of cumulative sun damage in the skin as evidenced by severe solar keratosis.|NCI|N|
C5237350|A finding indicating a high degree of cumulative sun damage in the skin as evidenced by severe solar keratosis. (WHO 2018)|NCI|N|
C5237352|An acral nevus that arises from the nail matrix.|NCI|N|
C5237353|An undifferentiated, high grade small round cell sarcoma affecting predominantly young adults. It is characterized by a recurrent translocation involving the CIC gene on chromosome 19 and DUX4 gene on chromosome 4. The translocation results in CIC-DUX4, t(4;19)(q35;q13) fusions.|NCI|N|
C5237355|An undifferentiated, high grade small round cell sarcoma affecting predominantly young adults. It is characterized by a recurrent translocation involving the CIC gene on chromosome 19 and DUX4L gene on chromosome 10. The translocation results in CIC-DUX4L, t(10;19)(q26;q13) fusions.|NCI|N|
C5237357|A molecular abnormality indicating rearrangement of the CIC gene.|NCI|N|
C5237359|A high-grade sarcoma characterized by the absence of EWSR1 rearrangement and the presence of small round malignant cells with a small amount of cytoplasm.|NCI|N|
C5237381|A variation in the amino acid sequence for the fibroblast growth factor receptor 1 protein.|NCI|N|
C5237382|Breast adenocarcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5237383|Hypopharyngeal squamous cell carcinoma that has spread from its original site of growth to nearby tissues or lymph nodes.|NCI|N|
C5237384|Bladder urothelial carcinoma that does not respond to treatment.|NCI|N|
C5237385|Breast adenocarcinoma that does not respond to treatment.|NCI|N|
C5237386|Benign vascular proliferations following external radiation. The lesions present in adults, predominantly in elderly women following radiotherapy for breast carcinoma. They arise from the radiated skin and are papules, small vesicles, or erythematous ecchymotic plaques with prominent telangiectasias. Identical lesions can occur after radiation for cervical carcinoma, endometrial carcinoma, ovarian carcinoma, Hodgkin lymphoma, and melanoma. There is an increased risk for subsequent development of angiosarcoma.|NCI|N|
C5237398|An invasive bladder carcinoma characterized by the presence of more than one histologic pattern.|NCI|N|
C5237402|A change in the nucleotide sequence of the BCL6 gene.|NCI|N|
C5237408|A deletion of chromosomal material at 17p13.1. This chromosomal aberration includes deletion of the TP53 gene and is associated with chronic lymphocytic leukemia.|NCI|N|
C5237409|A change in the sequence of the ZRSR2 gene that encodes a premature stop codon.|NCI|N|
C5237410|A morphologic finding indicating the presence of a mixed population of malignant epithelial cells in a tumor sample.|NCI|N|
C5237411|A deletion or insertion mutation in the ZRSR2 gene that shifts the reading frame for the transcript.|NCI|N|
C5237413|Skin squamous cell carcinoma that does not respond to treatment.|NCI|N|
C5237414|The reemergence of a metastatic skin squamous cell carcinoma after a period of remission.|NCI|N|
C5237415|The reemergence of skin squamous cell carcinoma after a period of remission, at or adjacent to the site of the original tumor.|NCI|N|
C5237416|The reemergence of a metastatic Merkel cell carcinoma after a period of remission.|NCI|N|
C5237417|The reemergence of Merkel cell carcinoma after a period of remission, at or adjacent to the site of the original tumor.|NCI|N|
C5237418|Merkel cell carcinoma that does not respond to treatment.|NCI|N|
C5237419|Neuroendocrine carcinoma that does not respond to treatment.|NCI|N|
C5237420|Breast adenocarcinoma that is negative for hormone receptors.|NCI|N|
C5237422|Renal cell carcinoma that does not respond to treatment.|NCI|N|
C5237426|The location of the tumor is unknown.|NCI|N|
C5237428|A nucleotide substitution at position 1966 of the coding sequence of the FGFR1 gene where adenine has been mutated to guanine.|NCI|N|
C5237429|A change in the amino acid residue at position 656 in the fibroblast growth factor receptor 1 protein where lysine has been replaced by glutamic acid.|NCI|N|
C5237430|A nucleotide substitution at position 1162 of the coding sequence of the FGFR4 gene where guanine has been mutated to adenine.|NCI|N|
C5237431|A finding indicating the presence of a minor population of monoclonal B-cells in the bone marrow of a patient with diffuse large B-cell lymphoma, without evidence of bone marrow infiltration by diffuse large B-cell lymphoma cells.|NCI|N|
C5237432|A variation in the amino acid sequence for the fibroblast growth factor receptor 4 protein.|NCI|N|
C5237433|A change in the amino acid residue at position 388 in the fibroblast growth factor receptor 4 protein where glycine has been replaced by arginine.|NCI|N|
C5237434|A change in the amino acid residue at position 589 in the receptor-type tyrosine-protein kinase FLT3 protein where tyrosine has been replaced by aspartic acid.|NCI|N|
C5237435|A change in the nucleotide sequence of the HDAC1 gene.|NCI|N|
C5237436|A variation in the amino acid sequence for the histone deacetylase 1 protein.|NCI|N|
C5237437|A change in the amino acid residue at position 303 in the histone deacetylase 1 protein where tyrosine has been replaced by histidine.|NCI|N|
C5237438|A variation in the amino acid sequence for the histone deacetylase 2 protein.|NCI|N|
C5237439|A change in the amino acid residue at position 455 in the histone deacetylase 2 protein where glutamic acid has been replaced by 6 non-canonical amino acids followed by a premature stop.|NCI|N|
C5237440|A variation in the amino acid sequence for the endoplasmin protein.|NCI|N|
C5237441|A change in the nucleotide sequence of the HSP90B1 gene.|NCI|N|
C5237442|Lung non-small cell carcinoma that is amenable to surgical resection.|NCI|N|
C5237452|A finding indicating the occurrence of a primary head and neck squamous cell carcinoma following the diagnosis of an initial primary squamous cell carcinoma in the head and neck.|NCI|N|
C5237455|A leiomyosarcoma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5237456|An undifferentiated pleomorphic sarcoma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5237457|Histologic transformation of mycosis fungoides to an aggressive non-Hodgkin lymphoma.|NCI|N|
C5237458|The reemergence of transformed mycosis fungoides after a period of remission.|NCI|N|
C5237459|Transformed mycosis fungoides that is resistant to treatment.|NCI|N|
C5237460|The reemergence of T-cell non-Hodgkin lymphoma transformed after a period of remission.|NCI|N|
C5237461|An indolent T-cell non-Hodgkin lymphoma which has undergone histologic transformation to an aggressive T-cell non-Hodgkin lymphoma and has become resistant to treatment.|NCI|N|
C5237463|The reemergence of mature B-cell non-Hodgkin lymphoma after a period of remission.|NCI|N|
C5237469|Clinical trial with results that fail to confirm the preliminary evidence accumulated in earlier phases that a drug is safe and effective for use for the intended indication and recipient population.|NCI|N|
C5237497|The state of the study application with respect to oversight entity approval.|NCI|N|
C5237681|An indication that recruitment was closed before the subject could be randomized.|NCI|N|
C5237710|Increase in the removal of mineralized bone matrix and/or mature bone and the formation of new bone.|NCI|N|
C5237711|The presence of red blood cells within lymph node sinuses.|NCI|N|
C5237712|Decrease in the amount of a secretory content present in the glandular lumen.|NCI|N|
C5237713|Increased amount of a secretory content present in the glandular lumen.|NCI|N|
C5237714|Increase in the amount of tingible body macrophages.|NCI|N|
C5237719|Esophageal adenocarcinoma that has metastasized to a limited number of sites.|NCI|N|
C5237720|Gastric adenocarcinoma that has metastasized to a limited number of sites.|NCI|N|
C5237728|The reemergence of a myeloproliferative neoplasm after a period of remission.|NCI|N|
C5237729|The reemergence of a myelodysplastic/myeloproliferative neoplasm after a period of remission.|NCI|N|
C5237737|Lymphedema that manifests in the head and neck.|NCI|N|
C5237739|A glioblastoma that is amenable to surgical resection.|NCI|N|
C5237740|A change in the amino acid residue at position 996 in the tyrosine-protein kinase JAK2 protein where glycine has been replaced by arginine.|NCI|N|
C5237741|A change in the amino acid residue at position 683 in the tyrosine-protein kinase JAK2 protein where arginine has been replaced by glycine.|NCI|N|
C5237742|A variation in the amino acid sequence for the tyrosine-protein kinase JAK3 protein.|NCI|N|
C5237743|A change in the amino acid residue at position 857 in the tyrosine-protein kinase JAK3 protein where leucine has been replaced by proline.|NCI|N|
C5237745|A change in the amino acid residue at position 590 in the mast/stem cell growth factor receptor Kit protein where serine has been replaced by isoleucine.|NCI|N|
C5237746|A death that is considered to be causally linked to a treatment.|NCI|N|
C5237747|A variation in the amino acid sequence for the dual specificity mitogen-activated protein kinase kinase 2 protein.|NCI|N|
C5237748|A nucleotide substitution at position 383 of the coding sequence of the MAP2K2 gene where cytosine has been mutated to thymine.|NCI|N|
C5237749|A change in the amino acid residue at position 128 in the dual specificity mitogen-activated protein kinase kinase 2 protein where proline has been replaced by leucine.|NCI|N|
C5237751|Esophageal carcinoma that is confined to the site in which it initially manifested without evidence of spread to other anatomic sites.|NCI|N|
C5237752|A finding indicating that a patient with a history of esophageal carcinoma does not have evidence of recurrent disease.|NCI|N|
C5237753|A finding indicating that a patient with a history of lung carcinoma does not have evidence of recurrent disease.|NCI|N|
C5237755|The reemergence of a large pleural effusion after a period of remission.|NCI|N|
C5237757|Anaplastic large cell lymphoma that is confined to a specific site without evidence of spread to other anatomic sites.|NCI|N|
C5237758|Anaplastic large cell lymphoma that has spread extensively to distant anatomic sites.|NCI|N|
C5237759|A malignant neoplasm that arises from the central nervous system and has spread from its original site of growth to other sites.|NCI|N|
C5237760|A malignant neoplasm that arises from the central nervous system and has spread from its original site of growth to nearby tissues or lymph nodes.|NCI|N|
C5237777|A numeric value corresponding to the degree of severity of an adverse event.|NCI|N|
C5237787|A response indicating that an individual does not own a smartphone or tablet.|NCI|N|
C5237788|A response indicating that an individual has concerns about data privacy or security with the app.|NCI|N|
C5237789|A response indicating that an individual does not want to download apps to their personal smartphone or tablet for the trial.|NCI|N|
C5237790|A response indicating that an individual does not have a Wi-Fi connection and/or has concerns with using a reliable internet connection.|NCI|N|
C5237791|A response indicating that an individual has concerns about data usage and/or no data plan.|NCI|N|
C5237792|A response indicating that an individual is uncomfortable and/or unfamiliar with technology.|NCI|N|
C5237793|A response indicating that an individual has difficulties using smartphones or tablets.|NCI|N|
C5237823|Changes from the previous physical examination that are noted during the current physical examination.|NCI|N|
C5237824|Gastric adenocarcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5237825|Esophageal adenocarcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5237826|Colorectal adenocarcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5237829|An indication that an adverse event is causally related to the use of a commercially available product.|NCI|N|
C5237830|An indication that an adverse event is causally related to the natural history of disease.|NCI|N|
C5237831|An indication that an adverse event is causally related to the use of an investigational new drug (IND).|NCI|N|
C5237832|An indication that an adverse event is causally related to an entity that is a not a disease- or research-related process nor a commercial product or investigational new drug (IND).|NCI|N|
C5237833|An indication that an adverse event is causally related to processes a subject was exposed to during a research study.|NCI|N|
C5237836|An explanation of why the status of a subject is unknown.|NCI|N|
C5237844|The reason the administration of a drug or therapeutic procedure was interrupted or stopped.|NCI|N|
C5237919|A non-neoplastic disorder that affects muscles and bones.|NCI|N|
C5237920|A mesenchymal neoplasm that arises from muscle or bone and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C5237937|A change in the amino acid residue at position 1276 in the hepatocyte growth factor receptor protein where glutamine has been replaced by leucine.|NCI|N|
C5237938|A nucleotide substitution at position 3708 of the coding sequence of the MET gene where thymine has been mutated to adenine.|NCI|N|
C5237939|A change in the amino acid residue at position 324 in the hepatocyte growth factor receptor protein where lysine has been replaced by methionine.|NCI|N|
C5237940|A nucleotide substitution at position 5664 of the coding sequence of the MAP2K2 gene where cytosine has been mutated to guanine.|NCI|N|
C5237941|A nucleotide substitution at position 5664 of the coding sequence of the MAP2K2 gene where cytosine has been mutated to adenine.|NCI|N|
C5237942|A nucleotide substitution at position 5662 of the coding sequence of the MAP2K2 gene where thymine has been mutated to cytosine.|NCI|N|
C5237943|A variation in the amino acid sequence for the serine/threonine-protein kinase mTOR protein.|NCI|N|
C5237944|A change in the amino acid residue at position 1954 in the serine/threonine-protein kinase mTOR2 protein where glycine has been replaced by arginine.|NCI|N|
C5237945|A change in the amino acid residue at position 1888 in the serine/threonine-protein kinase mTOR2 protein where phenylalanine has been replaced by leucine.|NCI|N|
C5237957|Melanoma that arises from the mucosal surface of the nasal cavity and paranasal sinus.|NCI|N|
C5237962|A change in the nucleotide sequence in a cyclin family gene.|NCI|N|
C5237965|A change in the nucleotide sequence of the NCSTN gene.|NCI|N|
C5237966|A variation in the amino acid sequence for the nicastrin protein.|NCI|N|
C5237967|A change in the amino acid residue at position 572 in the nicastrin protein where alanine has been replaced by glycine.|NCI|N|
C5237968|Rhabdomyosarcoma that has spread from its original site of growth to nearby tissues or lymph nodes.|NCI|N|
C5237970|A carcinoma that arises from the pancreas, bile ducts, gallbladder, or ampulla of Vater.|NCI|N|
C5238227|A variation in the amino acid sequence for the neurofibromin protein.|NCI|N|
C5238228|A nucleotide substitution at position 4394 of the coding sequence of the NF1 gene where adenine has been mutated to guanine.|NCI|N|
C5238229|A change in the amino acid residue at position 1465 in the neurofibromin protein where asparagine has been replaced by serine.|NCI|N|
C5238230|A nucleotide deletion of position 6926 of the coding sequence of the NF1 gene.|NCI|N|
C5238231|A change in the amino acid composition of the neurofibromin protein where a frameshift mutation results in the substitution of the serine at postion 2093 with a cysteine and 9 non-canonic amino acids followed by a stop codon.|NCI|N|
C5238232|A variation in the amino acid sequence for the neurogenic locus notch homolog protein 1 protein.|NCI|N|
C5238235|A nucleotide substitution at position 3587 of the coding sequence of the NOTCH1 gene where guanine has been mutated to adenine.|NCI|N|
C5238236|A change in the amino acid residue at position 1196 in the neurogenic locus notch homolog protein 1 where glycine has been replaced by aspartic acid.|NCI|N|
C5238238|A genitourinary system carcinoma that has spread from its original site of growth to nearby tissues or lymph nodes.|NCI|N|
C5238239|A bladder carcinoma that has spread from its original site of growth to nearby tissues or lymph nodes.|NCI|N|
C5238240|Ovarian carcinoma that has spread from its original site of growth to nearby tissues or lymph nodes.|NCI|N|
C5238241|Ovarian carcinoma that is not amenable to surgical resection.|NCI|N|
C5238242|Gastric adenocarcinoma that is resistant to treatment.|NCI|N|
C5238243|Bladder carcinoma that is not amenable to surgical resection.|NCI|N|
C5238244|Triple-negative breast carcinoma that is resistant to treatment.|NCI|N|
C5238249|The reemergence of diffuse astrocytoma after a period of remission.|NCI|N|
C5238250|The reemergence of oligoastrocytoma after a period of remission.|NCI|N|
C5238251|An immunophenotypic finding indicating the presence of neoplastic cells with bright CD56 expression.|NCI|N|
C5238252|An immunophenotypic finding indicating the presence of neoplastic cells with dim-to-negative CD45 expression.|NCI|N|
C5238253|An immunophenotypic finding indicating the presence of neoplastic cells with dim-to-negative CD38 expression.|NCI|N|
C5238254|An immunophenotypic finding indicating the presence of neoplastic cells negative for HLA-DR expression.|NCI|N|
C5238255|A high risk pediatric acute myeloid leukemia with an extremely poor prognosis. The blasts show bright CD56 expression, dim-to-negative expression of CD45 and CD38, and lack of HLA-DR expression. This immunophenotype was named after one of the pediatric patient''s initials (RAM), from Children''s Oncology Group (COG) clinical trial AAML0531.|NCI|N|
C5238256|A change in the nucleotide sequence of a gene in the BRCA family that either inhibits expression or results in the translation of an inactive BRCA family protein.|NCI|N|
C5238257|A change in the nucleotide sequence of a gene in the BRCA family whose association with disease risk is unknown or uncertain.|NCI|N|
C5238258|A change in the nucleotide sequence of the DAXX gene.|NCI|N|
C5238259|A change in the nucleotide sequence of the DAXX gene that either inhibits expression or results in the translation of an inactive death domain-associated protein 6 protein.|NCI|N|
C5238260|A change in the nucleotide sequence of the ATRX gene that either inhibits expression or results in the translation of an inactive transcriptional regulator ATRX protein.|NCI|N|
C5238261|A change in the nucleotide sequence of the ARID1A gene that either inhibits expression or results in the translation of an inactive AT-rich interactive domain-containing protein 1A protein.|NCI|N|
C5238262|A change in the nucleotide sequence of the SMC3 gene.|NCI|N|
C5238263|A change in the nucleotide sequence of the PDS5B gene.|NCI|N|
C5238264|A change in the nucleotide sequence of the RAD21 gene.|NCI|N|
C5238265|A finding indicating that clonal plasma cells have been detected in a bone marrow sample.|NCI|N|
C5238271|A molecular genetic abnormality indicating the presence of multiple copies of the NTRK3 gene.|NCI|N|
C5238272|A molecular genetic abnormality indicating the presence of multiple copies of the NTRK2 gene.|NCI|N|
C5238273|A change in the nucleotide sequence of the CDKN2C gene that either inhibits expression or results in the translation of an inactive cyclin-dependent kinase 4 inhibitor C protein.|NCI|N|
C5238274|A change in the nucleotide sequence of the CDKN2B gene.|NCI|N|
C5238275|A change in the nucleotide sequence of the CDKN2B gene that either inhibits expression or results in the translation of an inactive cyclin-dependent kinase 4 inhibitor B protein.|NCI|N|
C5238276|A change in the nucleotide sequence of the AXIN2 gene.|NCI|N|
C5238277|A change in the nucleotide sequence of the AXIN1 gene.|NCI|N|
C5238278|A change in the nucleotide sequence of the RSPO2 gene.|NCI|N|
C5238279|A change in the nucleotide sequence of the ZNRF3 gene.|NCI|N|
C5238281|A change in the nucleotide sequence of the SBDS gene.|NCI|N|
C5238283|A variation in the amino acid sequence for the serine/arginine-rich splicing factor 2 protein.|NCI|N|
C5238284|Any deletion in the amino acid sequence for the serine/arginine-rich splicing factor 2 protein that includes the proline at position 95.|NCI|N|
C5238285|A variation in the amino acid sequence for the splicing factor U2AF 35 kDa subunit protein.|NCI|N|
C5238287|A change in the amino acid residue at position 157 in the splicing factor U2AF 35 kDa subunit protein where glutamine has been replaced by another amino acid.|NCI|N|
C5238288|A change in the amino acid residue at position 156 in the splicing factor U2AF 35 kDa subunit protein where arginine has been replaced by another amino acid.|NCI|N|
C5238289|A change in the amino acid residue at position 34 in the splicing factor U2AF 35 kDa subunit protein where serine has been replaced by another amino acid.|NCI|N|
C5238290|A variation in the amino acid sequence for the splicing factor 3B subunit 1 protein.|NCI|N|
C5238291|A change in the amino acid residue at position 781 in the splicing factor 3B subunit 1 protein where aspartic acid has been replaced by another amino acid.|NCI|N|
C5238292|A change in the amino acid residue at position 774 in the splicing factor 3B subunit 1 protein where alanine has been replaced by another amino acid.|NCI|N|
C5238293|A change in the amino acid residue at position 741 in the splicing factor 3B subunit 1 protein where lysine has been replaced by another amino acid.|NCI|N|
C5238294|A change in the amino acid residue at position 740 in the splicing factor 3B subunit 1 protein where glycine has been replaced by another amino acid.|NCI|N|
C5238295|A change in the amino acid residue at position 704 in the splicing factor 3B subunit 1 protein where isoleucine has been replaced by another amino acid.|NCI|N|
C5238296|A change in the amino acid residue at position 701 in the splicing factor 3B subunit 1 protein where valine has been replaced by another amino acid.|NCI|N|
C5238297|A change in the amino acid residue at position 700 in the splicing factor 3B subunit 1 protein where lysine has been replaced by another amino acid.|NCI|N|
C5238298|A change in the amino acid residue at position 666 in the splicing factor 3B subunit 1 protein where lysine has been replaced by another amino acid.|NCI|N|
C5238299|A change in the amino acid residue at position 663 in the splicing factor 3B subunit 1 protein where threonine has been replaced by another amino acid.|NCI|N|
C5238300|A change in the amino acid residue at position 662 in the splicing factor 3B subunit 1 protein where histidine has been replaced by another amino acid.|NCI|N|
C5238301|A change in the amino acid residue at position 626 in the splicing factor 3B subunit 1 protein where asparagine has been replaced by another amino acid.|NCI|N|
C5238302|A change in the amino acid residue at position 625 in the splicing factor 3B subunit 1 protein where arginine has been replaced by another amino acid.|NCI|N|
C5238303|A change in the amino acid residue at position 623 in the splicing factor 3B subunit 1 protein where tyrosine has been replaced by another amino acid.|NCI|N|
C5238304|A change in the amino acid residue at position 622 in the splicing factor 3B subunit 1 protein where glutamic acid has been replaced by another amino acid.|NCI|N|
C5238305|A cytogenetic abnormality that refers to any translocation involving the MLL (KMT2A) gene.|NCI|N|
C5238308|A molecular genetic abnormality indicating the presence of multiple copies of the ERBB3 gene.|NCI|N|
C5238311|A molecular genetic abnormality indicating the presence of multiple copies of the FGFR4 gene.|NCI|N|
C5238312|A point mutation in the nucleotide sequence of the ERBB2 gene that that results in constitutive receptor tyrosine-protein kinase erbB-2-dependent signal transduction and activation of downstream signaling pathways.|NCI|N|
C5238317|A nucleotide substitution at position 2039 of the coding sequence of the FLT3 gene where cytosine has been mutated to thymine.|NCI|N|
C5238318|A change in the amino acid residue at position 680 in the receptor-type tyrosine-protein kinase FLT3 protein where alanine has been replaced by valine.|NCI|N|
C5238319|A nucleotide substitution at position 2517 of the coding sequence of the FLT3 gene where thymine has been mutated to adenine.|NCI|N|
C5238320|A change in the amino acid residue at position 839 in the receptor-type tyrosine-protein kinase FLT3 protein where aspartic acid has been replaced by glutamic acid.|NCI|N|
C5238321|A nucleotide substitution at position 2516 of the coding sequence of the FLT3 gene where adenine has been mutated to guanine.|NCI|N|
C5238322|A change in the amino acid residue at position 839 in the receptor-type tyrosine-protein kinase FLT3 protein where aspartic acid has been replaced by glycine.|NCI|N|
C5238323|A change in the amino acid residue at position 594 in the receptor-type tyrosine-protein kinase FLT3 protein where phenylalanine has been replaced by tyrosine.|NCI|N|
C5238324|A change in the amino acid residue at position 594 in the receptor-type tyrosine-protein kinase FLT3 protein where phenylalanine has been replaced by cysteine.|NCI|N|
C5238325|A nucleotide substitution at position 1727 of the coding sequence of the FLT3 gene where thymine has been mutated to guanine.|NCI|N|
C5238326|A change in the amino acid residue at position 576 in the receptor-type tyrosine-protein kinase FLT3 protein where leucine has been replaced by arginine.|NCI|N|
C5238327|A malignant neoplasm that occurs in the context of obesity.|NCI|N|
C5238328|A nucleotide substitution at position 1992 of the coding sequence of the FLT3 gene where guanine has been mutated to adenine.|NCI|N|
C5238329|A nucleotide substitution at position 1992 of the coding sequence of the FLT3 gene where guanine has been mutated to cytosine.|NCI|N|
C5238330|A nucleotide substitution at position 1992 of the coding sequence of the FLT3 gene where guanine has been mutated to thymine.|NCI|N|
C5238332|A change in the amino acid residue at position 664 in the receptor-type tyrosine-protein kinase FLT3 protein where methionine has been replaced by isoleucine.|NCI|N|
C5238333|A nucleotide substitution at position 2028 of the coding sequence of the FLT3 gene where cytosine has been mutated to adenine.|NCI|N|
C5238334|A nucleotide substitution at position 2028 of the coding sequence of the FLT3 gene where cytosine has been mutated to guanine.|NCI|N|
C5238335|A nucleotide substitution at position 2027 of the coding sequence of the FLT3 gene where adenine has been mutated to guanine.|NCI|N|
C5238336|A change in the amino acid residue at position 676 in the receptor-type tyrosine-protein kinase FLT3 protein where asparagine has been replaced by serine.|NCI|N|
C5238337|A malignant neoplasm caused by deleterious germline mutation in a gene of the BRCA family.|NCI|N|
C5238338|A change in the amino acid residue at position 841 in the receptor-type tyrosine-protein kinase FLT3 protein where asparagine has been replaced by another amino acid.|NCI|N|
C5238339|A nucleotide substitution at position 1775 of the coding sequence of the FLT3 gene where thymine has been mutated to cytosine.|NCI|N|
C5238340|A change in the amino acid residue at position 592 in the receptor-type tyrosine-protein kinase FLT3 protein where valine has been replaced by alanine.|NCI|N|
C5238341|A nucleotide substitution at position 1775 of the coding sequence of the FLT3 gene where thymine has been mutated to guanine.|NCI|N|
C5238342|A change in the amino acid residue at position 592 in the receptor-type tyrosine-protein kinase FLT3 protein where valine has been replaced by glycine.|NCI|N|
C5238343|A nucleotide substitution at position 1796 of the coding sequence of the FLT3 gene where adenine has been mutated to guanine.|NCI|N|
C5238344|A change in the amino acid residue at position 599 in the receptor-type tyrosine-protein kinase FLT3 protein where tyrosine has been replaced by cysteine.|NCI|N|
C5238345|A change in the amino acid residue at position 842 in the receptor-type tyrosine-protein kinase FLT3 protein where tyrosine has been replaced by another amino acid.|NCI|N|
C5238347|Breast carcinoma caused by deleterious germline mutation in a gene of the BRCA family.|NCI|N|
C5238349|A finding indicating the reemergence of non-muscle invasive bladder urothelial carcinoma after a period of remission, in patients with a prior history of low or intermediate risk non-muscle invasive bladder urothelial carcinoma.|NCI|N|
C5238350|Breast carcinoma caused by deleterious germline mutation in the PALB2 gene.|NCI|N|
C5238351|A cytogenetic abnormality that refers to the translocation of the short arm (p11.2) of chromosome 8 and the short arm (p13.3) of chromosome 16. It is associated with KAT6A/CREBBP fusions and acute myeloid leukemia.|NCI|N|
C5238352|A pericentric chromosomal inversion that involves chromosome 16. It is associated with CBFA2T3/GLIS2 fusions and pediatric acute megakaryoblastic leukemia.|NCI|N|
C5238353|A cytogenetic abnormality that refers to the translocation of the short arm (p12.3) of chromosome 10 and the long arm (q23.3) of chromosome 11. It is associated with KMT2A (MLL) fusions and acute myeloid leukemia.|NCI|N|
C5238354|A cytogenetic abnormality that refers to the translocation of the short arm (p12.1) of chromosome 10 and the long arm (q23.3) of chromosome 11. It is associated with KMT2A (MLL) fusions.|NCI|N|
C5238355|A cytogenetic abnormality indicating the presence of rearrangement involving the short arm segment p12.3 of chromosome 10.|NCI|N|
C5238356|A change in the nucleotide sequence of the CEBPA gene that alters the amino acid sequence of the DNA-binding basic leucine zipper domain of CCAAT/enhancer binding protein alpha.|NCI|N|
C5238359|Fallopian tube carcinoma that has spread from its original site of growth to nearby tissues or lymph nodes.|NCI|N|
C5238360|A carcinoma that arises from the peritoneum and has metastasized to another anatomic site.|NCI|N|
C5238361|Primary peritoneal carcinoma that has spread from its original site of growth to nearby tissues or lymph nodes.|NCI|N|
C5238366|A finding indicating that a localized pathological lesion can be measured in at least one dimension.|NCI|N|
C5238375|A nucleotide substitution at position 5153 of the coding sequence of the NOTCH1 gene where thymine has been mutated to cytosine.|NCI|N|
C5238376|A change in the amino acid residue at position 1718 in the neurogenic locus notch homolog protein 1 where isoleucine has been replaced by threonine.|NCI|N|
C5238377|A nucleotide substitution at position 7507 of the coding sequence of the NOTCH1 gene where cytosine has been mutated to thymine.|NCI|N|
C5238378|A change in the amino acid composition of the neurogenic locus notch homolog protein 1 where a nonsense mutation results in the substitution of the glutamine at position 2503 with a stop codon.|NCI|N|
C5238379|A change in the amino acid residue at position 1674 in the neurogenic locus notch homolog protein 1 where serine has been replaced by phenylalanine.|NCI|N|
C5238380|A change in the amino acid residue at position 1674 in the neurogenic locus notch homolog protein 1 where serine has been replaced by proline.|NCI|N|
C5238381|An insertion of eight nucleotides between position 7396 and 7397 of the coding sequence of the NOTCH1 gene.|NCI|N|
C5238382|A change in the amino acid composition at position 2467 of the neurogenic locus notch homolog protein 1 where a nonsense mutation results in the substitution of the serine with a stop codon.|NCI|N|
C5238384|An insertion of five nucleotides between position 7396 and 7397 of the coding sequence of the NOTCH1 gene.|NCI|N|
C5238385|An insertion of nine nucleotides, AGGTTACCC, between position 7399 and 7400 of the coding sequence of the NOTCH1 gene.|NCI|N|
C5238386|A change in the amino acid composition at position 2467 of the neurogenic locus notch homolog protein 1 where a frameshift mutation results in the substitution of the serine with several non-canonical amino acids followed by a stop codon.|NCI|N|
C5238387|Nasal cavity squamous cell carcinoma that has spread from its original site of growth to another anatomic site.|NCI|N|
C5238388|Colon carcinoma that is amenable to surgical resection.|NCI|N|
C5238389|Colon carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5238392|An insertion of eight nucleotides, AGGGACCG, between position 7398 and 7399 of the coding sequence of the NOTCH1 gene.|NCI|N|
C5238393|A change in the amino acid composition at position 2467 of the neurogenic locus notch homolog protein 1 where a frameshift mutation results in the substitution of the serine with an arginine followed by 12 non-canonical amino acids and stop codon.|NCI|N|
C5238394|An insertion of 14 nucleotides, GCCTTGGGAACCCG, between position 7398 and 7399 of the coding sequence of the NOTCH1 gene.|NCI|N|
C5238395|A change in the amino acid composition at position 2467 of the neurogenic locus notch homolog protein 1 where a frameshift mutation results in the substitution of the serine with an alanine followed by 14 non-canonical amino acids and stop codon.|NCI|N|
C5238396|An insertion of two nucleotides, guanine-guanine, between position 7398 and 7399 of the coding sequence of the NOTCH1 gene.|NCI|N|
C5238397|A change in the amino acid composition at position 2467 of the neurogenic locus notch homolog protein 1 where a frameshift mutation results in the substitution of the serine with a glycine followed by 10 non-canonical amino acids and stop codon.|NCI|N|
C5238398|A deletion of ten nucleotides starting at position 7398 and ending with position 7407 of the coding sequence of the NOTCH1 gene.|NCI|N|
C5238399|A deletion of the nucleotide at position 7398 of the coding sequence of the NOTCH1 gene.|NCI|N|
C5238400|A change in the amino acid composition at position 2467 of the neurogenic locus notch homolog protein 1 where a frameshift mutation results in the substitution of the serine with an arginine followed by 9 non-canonical amino acids and stop codon.|NCI|N|
C5238401|A deletion of the nucleotide at position 7399 of the coding sequence of the NOTCH1 gene.|NCI|N|
C5238402|An insertion of two nucleotides, guanine-guanine, between position 7399 and 7400 of the coding sequence of the NOTCH1 gene.|NCI|N|
C5238403|A change in the amino acid composition at position 2467 of the neurogenic locus notch homolog protein 1 where a frameshift mutation results in the substitution of the serine with a tryptophan followed by 10 non-canonical amino acids and stop codon.|NCI|N|
C5238404|Prostate carcinoma that is resistant to treatment.|NCI|N|
C5238405|Prostate adenocarcinoma that is resistant to treatment.|NCI|N|
C5238407|A change in the amino acid residue at position 140 in the isocitrate dehydrogenase [NADP], mitochondrial protein where arginine has been replaced by glycine.|NCI|N|
C5238408|A nucleotide substitution at position 418 of the coding sequence of the IDH2 gene where cytosine has been mutated to guanine.|NCI|N|
C5238409|A malignant female reproductive system neoplasm that has spread extensively from its original site of growth to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5238424|The length of a dog''s life, stated in years since birth.|NCI|N|
C5238452|A response indicating that an individual has or had no difficulty doing something.|NCI|N|
C5238453|A response indicating that an individual has or had mild difficulty doing something.|NCI|N|
C5238454|A response indicating that an individual has or had sevete difficulty doing something.|NCI|N|
C5238455|A response indicating that something does not interfere at all.|NCI|N|
C5238456|A response indicating that something interferes slightly.|NCI|N|
C5238457|A response indicating that something interferes moderately.|NCI|N|
C5238458|A response indicating that something interferes quite a bit.|NCI|N|
C5238459|A response indicating that something is extremely interfering.|NCI|N|
C5238460|A response indicating that an individual had so much pain in their arm, shoulder, or hand that they could not sleep.|NCI|N|
C5238461|A pancreatic neuroendocrine tumor that has spread from its original site of growth to nearby tissues or lymph nodes.|NCI|N|
C5238463|A well differentiated, low, intermediate, or high grade neoplasm that arises from the jejunum, ileum, proximal colon, or appendix.|NCI|N|
C5238464|A well differentiated, intermediate grade neoplasm with neuroendocrine differentiation that arises from the jejunum, ileum, proximal colon, or appendix. The mitotic count is 2-20 per 10 HPF and/or the Ki67 index is 3 to 20 percent.|NCI|N|
C5238465|A midgut neuroendocrine tumor that has spread from its original site of growth to another anatomic site.|NCI|N|
C5238466|A midgut neuroendocrine tumor that has spread from its original site of growth to nearby tissues or lymph nodes.|NCI|N|
C5238467|A midgut neuroendocrine tumor that is not amenable to surgical resection.|NCI|N|
C5238468|A neuroendocrine neoplasm that has spread from its original site of growth to nearby tissues or lymph nodes.|NCI|N|
C5238469|A neuroendocrine tumor that has spread from its original site of growth to nearby tissues or lymph nodes.|NCI|N|
C5238471|IDH-mutant astrocytoma characterized by the presence of necrosis and/or microvascular proliferation or homozygous deletion of CDKN2A and/or CDKN2B genes. The term glioblastoma no longer applies to central nervous system WHO grade 4 IDH-mutant astrocytomas. (WHO 2021)|NCI|N|
C5238472|Hepatocellular carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5238474|A bladder carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5238476|An adnexal carcinoma with ductal/glandular differentiation lacking specific histological features that would allow further classification. (WHO 2018)|NCI|N|
C5238477|A benign adnexal neoplasm with histological features of both spiradenoma and cylindroma in a single nodular lesion.|NCI|N|
C5238478|A carcinoma that arises in a spiradenocylindroma.|NCI|N|
C5238483|Nasopharyngeal squamous cell carcinoma that has spread to nearby tissues or lymph nodes.|NCI|N|
C5238485|Anal carcinoma with minimal stromal invasion.|NCI|N|
C5238495|A rare indolent adnexal carcinoma with a cribriform pattern.|NCI|N|
C5238497|A rare adnexal carcinoma that is histopathologically identical to homologous lesions in the salivary gland and breast. (WHO 2018)|NCI|N|
C5238498|A rare aggressive adnexal carcinoma preferentially affecting the eyelid and histopathologically resembling a metastatic lobular carcinoma of the breast and/or some adenocarcinomas arising in the gastrointestinal tract. (WHO 2018)|NCI|N|
C5238499|A benign skin neoplasm composed exclusively of myoepithelial cells.|NCI|N|
C5238507|Epithelioid sarcoma that has spread from its original site of growth to nearby tissues or lymph nodes.|NCI|N|
C5238508|Epithelioid sarcoma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5238509|A rare biphasic follicular neoplasm consisting of a malignant epithelial component resembling follicular germinative cells closely associated with a malignant stromal component differentiating towards specific follicular mesenchyme. (WHO 2018)|NCI|N|
C5238521|Fallopian tube carcinoma that has spread extensively from its original site of growth to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5238522|Primary peritoneal carcinoma that has spread extensively from its original site of growth to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5238538|A history of having had an abnormal cardiac study.|NCI|N|
C5238539|The reemergence of high risk chronic myelomonocytic leukemia after a period of remission.|NCI|N|
C5238540|High risk chronic myelomonocytic leukemia that does not respond to treatment.|NCI|N|
C5238544|The location of the chest pain is along an imaginary vertical line that descends along the lateral aspect of the chest wall originating from the armpit.|NCI|N|
C5238545|The location of the chest pain is along an imaginary vertical line on the chest originating from the midpoint of a clavicle.|NCI|N|
C5238546|The location of the chest pain is in the area defined by a superior rib margin and an inferior rib margin.|NCI|N|
C5238547|The location of the chest pain is in the middle of the anterior wall of the thorax, bounded by the clavicles, above, and with the cartilages of the first seven ribs, along the sides.|NCI|N|
C5238553|A term that refers to clinicopathologic findings related to plasma cell neoplasms.|NCI|N|
C5238554|A term that refers to clinicopathologic findings related to myeloid neoplasms.|NCI|N|
C5238555|A term that refers to clinicopathologic findings related to leukemias.|NCI|N|
C5238560|A term that refers to clinicopathologic, cytogenetic, and molecular findings that define a myeloma as high risk. They include: ISS (International Staging System) stage III, elevated LDH, t(4;14), del(17/17p), t(14;16), t(14;20), hypodiploidy, gain(1q), and gene expression profile with high risk signature in which several genes are mapped to chromosome 1(q) and (1p).|NCI|N|
C5238561|A condition in which there is musculoskeletal chest pain secondary to inflammation of the muscle tissue. (ACC-AHA)|NCI|N|
C5238562|A condition in which there is the sensation of musculoskeletal chest pain due to a conversion disorder. (ACC-AHA)|NCI|N|
C5238563|An indication that the chest pain dose not radiate.|NCI|N|
C5238564|The location of the radiating chest pain is along an imaginary vertical line that descends along the lateral aspect of the chest wall originating from the armpit.|NCI|N|
C5238565|The location of the radiating chest pain is along an imaginary vertical line on the chest originating from the midpoint of a clavicle.|NCI|N|
C5238566|The location of the radiating chest pain is along the lateral edge of the sternum.|NCI|N|
C5238567|The location of the radiating chest pain is in the middle of the anterior wall of the thorax, bounded by the clavicles, above, and with the cartilages of the first seven ribs, along the sides.|NCI|N|
C5238568|An indication that the chest pain radiates to a location other than those listed.|NCI|N|
C5238570|A history of a first-degree relative that was diagnosed with prolongation of the heart rate corrected QT interval as calculated by the Bazett formula.|NCI|N|
C5238571|A history of a first-degree relative whose death was attributed to sudden arrythmia death syndrome (SADS).|NCI|N|
C5238572|A history of a first-degree relative that has had coronary artery bypass graft surgery.|NCI|N|
C5238573|A history of a first-degree relative that has had a percutaneous coronary intervention.|NCI|N|
C5238575|An auscultated finding describing a loud musical or sonorous vibratory systolic murmur that may be heard in patients with atrioventricular valve prolapse. (ACC-AHA)|NCI|N|
C5238576|A heart sound that is very soft or intermittently heard.|NCI|N|
C5238577|A heart sound that is as loud as the breath sounds.|NCI|N|
C5238578|A heart sound that is louder than breath sounds.|NCI|N|
C5238579|A heart sound that is louder than breath sounds in the presence of a palpated thrill.|NCI|N|
C5238580|A heart sound that can be auscultated with the stethoscope off of the chest wall or with the naked ear.|NCI|N|
C5238581|A heart sound that can be auscultated only with the diaphragm of the stethoscope.|NCI|N|
C5238582|A heart sound that can only be auscultated with the bell of the stethoscope.|NCI|N|
C5238583|A heart sound that can be auscultated with both the diaphragm and the bell of the stethoscope.|NCI|N|
C5238584|An innocent murmur with a medium pitched, harsh character heard at the left middle and left upper sternal border that disappears with upright position. (ACC-AHA)|NCI|N|
C5238585|An innocent murmur with a medium or high pitched, blowing character heard at the left middle sternal border that can also be heard at the same volume across the precordium and back that does not disappear with maneuvers but is only heard in infants less than six months of age. (ACC-AHA)|NCI|N|
C5238586|A condition in which there is myositis secondary to an infectious etiology. (ACC-AHA)|NCI|N|
C5238587|A condition in which there is musculoskeletal chest pain associated with inappropriate hyperpnea or tachypnea. (ACC-AHA)|NCI|N|
C5238588|The location of the radiating chest pain is along the left anterior axillary line.|NCI|N|
C5238589|The location of the radiating chest pain is along the right anterior axillary line.|NCI|N|
C5238590|The location of the radiating chest pain is along the left midclavicular line.|NCI|N|
C5238591|The location of the radiating chest pain is along the right midclavicular line.|NCI|N|
C5238592|The location of the radiating chest pain is along the left lower sternal border.|NCI|N|
C5238593|The location of the radiating chest pain is along the left middle sternal border.|NCI|N|
C5238594|The location of the radiating chest pain is along the left upper sternal border.|NCI|N|
C5238595|The location of the radiating chest pain is along the right lower sternal border.|NCI|N|
C5238596|The location of the radiating chest pain is along the right middle sternal border.|NCI|N|
C5238597|The location of the radiating chest pain is along the right upper sternal border.|NCI|N|
C5238598|The location of the radiating chest pain is in the lower portion of the sternum.|NCI|N|
C5238599|The location of the radiating chest pain is in the middle portion of the sternum.|NCI|N|
C5238600|The location of the radiating chest pain is in the upper portion of the sternum.|NCI|N|
C5238601|An auscultated finding in which there is appropriate splitting between the closure sounds of the atrioventricular valve.|NCI|N|
C5238602|An auscultated finding in which the tricuspid valve closure sound occurs before the mitral closure sound. (ACC-AHA)|NCI|N|
C5238603|An auscultated finding in which the atrioventricular valve closure sounds occur so close together as to sound single. (ACC-AHA)|NCI|N|
C5238604|An auscultated finding in which the sounds comprising the first heart sound are quieter than normal. (ACC-AHA)|NCI|N|
C5238605|An auscultated finding in which the mitral and tricuspid closure sounds are wider apart in time than normal. (ACC-AHA)|NCI|N|
C5238606|An auscultated finding in which the pulmonary valve closure sound is louder than normal. (ACC-AHA)|NCI|N|
C5238607|An auscultated finding in which the semilunar valve closure sounds occur close together without occurring simultaneously and vary with respiration. (ACC-AHA)|NCI|N|
C5238608|An auscultated finding in which the semilunar valve closure sounds occur further apart in time than normal. (ACC-AHA)|NCI|N|
C5238609|A finding noted on auscultation of the abdomen.|NCI|N|
C5238610|A finding noted on palpation of the abdomen.|NCI|N|
C5238612|An indication that on visual inspection the scrotal skin is found to have become taut due to excessive fluid.|NCI|N|
C5238615|The laboratory findings indicating diagnosis of Kawasaki disease. The criteria for incomplete Kawasaki disease are: 1) Elevated ESR or CRP 2) Sterile pyuria 3) Anemia 4) Decreased albumin 5) Elevated alanine aminotransferase 6) Leukocytosis 7) Thrombocytosis. (ACC-AHA)|NCI|N|
C5238618|A clinical finding demonstrating the pulsation associated with the contraction of the systemic ventricle. Typically associated with the apex of the heart. (ACC-AHA)|NCI|N|
C5238619|Indicates that a person has been educated through a plan created under section 504 of the Rehabilitation Act which prohibits discrimination against individuals with disabilities and allows for accommodations for the child to be able to achieve academic success in primary or secondary school.|NCI|N|
C5238620|A history of having had an abnormal finding during cardiac event monitoring.|NCI|N|
C5238621|A history of having had an abnormal finding during Holter monitoring.|NCI|N|
C5238622|A heart murmur that occurs throughout systole and the early part of diastole.|NCI|N|
C5238623|A clinical finding in which the point of maximum impulse is located lateral to the anticipated position in the left midclavicular clavicular line, fifth intercostal space.|NCI|N|
C5238624|A clinical finding in which the point of maximum impulse is located in a place other than the left anterior chest.|NCI|N|
C5238625|Any associated activity noted when chief complaint occurs or that induces onset of the chief complaint.|NCI|N|
C5238629|The daily caloric intake is sufficient.|NCI|N|
C5238630|The daily fluid intake is sufficient.|NCI|N|
C5238631|The daily salt intake is sufficient.|NCI|N|
C5238633|Any factor that lessens or improves the chief complaint.|NCI|N|
C5238635|An indication that anticongestive medications were given as treatment for rheumatic fever.|NCI|N|
C5238636|A condition in which syncope occurs due to an arrhythmia. (ACC-AHA)|NCI|N|
C5238637|An indication that aspirin was given as treatment for Kawasaki disease.|NCI|N|
C5238638|An indication that aspirin was given as treatment for rheumatic fever.|NCI|N|
C5238639|Inspection of the region of the anterior surface of the chest and epigastrium reveals disparate configuration on opposite sides of a vertical central dividing line.|NCI|N|
C5238640|An indication that the patient does not consume caffeine on a regular basis.|NCI|N|
C5238641|An indication that the patient consumes caffeine on a regular basis.|NCI|N|
C5238643|A condition in which neurally-mediated syncope occurs in which the blood pressure falls and heart rate falls. (ACC-AHA)|NCI|N|
C5238645|The location of the chest pain is along the anterior axillary line on the left side.|NCI|N|
C5238646|The location of the chest pain is along the left lower border of the sternum.|NCI|N|
C5238647|The location of the chest pain is along the left midclavicular line.|NCI|N|
C5238648|The location of the chest pain is along the left middle border of the sternum.|NCI|N|
C5238649|The location of the chest pain is along the left upper border of the sternum.|NCI|N|
C5238650|The location of the chest pain is along the anterior axillary line on the right side.|NCI|N|
C5238651|The location of the chest pain is along the right lower border of the sternum.|NCI|N|
C5238652|The location of the chest pain is along the right midclavicular line.|NCI|N|
C5238653|The location of the chest pain is along the right upper border of the sternum.|NCI|N|
C5238654|The location of the chest pain is within the fifth intercostal space on the left side.|NCI|N|
C5238655|The location of the chest pain is within the fourth intercostal space on the left side.|NCI|N|
C5238656|The location of the chest pain is within the second intercostal space on the left side.|NCI|N|
C5238657|The location of the chest pain is within the third intercostal space on the left side.|NCI|N|
C5238658|The location of the chest pain is in the lower portion of the sternum.|NCI|N|
C5238659|The location of the chest pain is in the middle of the sternum.|NCI|N|
C5238660|The location of the chest pain is within the fifth intercostal space on the right side.|NCI|N|
C5238661|The location of the chest pain is within the fourth intercostal space on the right side.|NCI|N|
C5238662|The location of the chest pain is within the second intercostal space on the right side.|NCI|N|
C5238663|The location of the chest pain is within the third intercostal space on the right side.|NCI|N|
C5238664|The location of the chest pain is in the upper portion of the sternum.|NCI|N|
C5238665|An indication that the chief complaint was caused by a traumatic event.|NCI|N|
C5238666|The chief complaint continues without interruption.|NCI|N|
C5238667|The chief complaint intermittently stops then starts again.|NCI|N|
C5238668|The chief complaint is noted to occur at least once per day.|NCI|N|
C5238669|The chief complaint is noted to occur at least once per month.|NCI|N|
C5238670|The chief complaint is noted to occur more than once per day.|NCI|N|
C5238671|The chief complaint is noted to occur at least once per week.|NCI|N|
C5238672|The chief complaint typically occurs after exercise.|NCI|N|
C5238673|The chief complaint typically occurs at rest.|NCI|N|
C5238674|The chief complaint typically occurs during exercise.|NCI|N|
C5238675|The chief complaint occurs both at rest or with exercise.|NCI|N|
C5238676|The chief complaint is noted to primarily occur in the period on or around noon.|NCI|N|
C5238677|The chief complaint is noted to primarily occur between sunset and sunrise.|NCI|N|
C5238678|The chief complaint is noted to primarily occur after noon but before sunset.|NCI|N|
C5238679|The chief complaint is noted to primarily occur after sunset but before bedtime.|NCI|N|
C5238680|The chief complaint is noted to primarily occur in the period after sunrise and before noon.|NCI|N|
C5238681|An indication that the chief complaint was not witnessed.|NCI|N|
C5238682|An indication that the chief complaint was witnessed.|NCI|N|
C5238683|A condition in which there is orthostatic intolerance lasting for at least three months with associated functional impairment. (ACC-AHA)|NCI|N|
C5238684|A clinical condition in which there is a breath-holding spell associated with syncope. (ACC-AHA)|NCI|N|
C5238685|An indication that coumadin was given as treatment for Kawasaki disease.|NCI|N|
C5238686|A clinical condition in which there is a breath-holding spell associated with cyanotic appearance. (ACC-AHA)|NCI|N|
C5238687|Symptoms, physical examination results, and/or laboratory test results related to physical, emotional, behavioral, or social development.|NCI|N|
C5238688|The diagnosis given at the prior clinical assessment of the patient for the current chief complaint.|NCI|N|
C5238689|A condition in which syncope occurs due to the ingestion or administration of a chemical substance. (ACC-AHA)|NCI|N|
C5238690|The presence of a positive anti-Streptolysin-O or anti-DNase B, demonstrating that the patient was previously infected with Streptococcus. (ACC-AHA)|NCI|N|
C5238692|The daily caloric intake is excessive.|NCI|N|
C5238693|The daily salt intake is excessive.|NCI|N|
C5238694|A syncopal event in which there is no attempt to protect oneself from the effects of the fall.|NCI|N|
C5238695|A history of a first-degree relative that has had an arrhythmia.|NCI|N|
C5238696|A history of a first-degree relative that has had a chronic disease.|NCI|N|
C5238697|A heart murmur that occurs for an extended length of time after a valve closure sound.|NCI|N|
C5238698|A heart murmur that occurs for a medium length of time after a valve closure sound.|NCI|N|
C5238699|A heart murmur that occurs for a brief length of time after a valve closure sound.|NCI|N|
C5238700|A history of a first-degree relative with Ehlers-Danlos syndrome.|NCI|N|
C5238701|A history of a first-degree relative that has had a myocardial infarction.|NCI|N|
C5238702|A state of increased discomfort and decreased efficiency due to prolonged or excessive exertion during the taking of food. (ACC-AHA)|NCI|N|
C5238703|The sensation of an isolated cardiac contraction occurring with greater strength than that of a typical or normal contraction. (ACC-AHA)|NCI|N|
C5238705|Genetic anomalies and collections of malformations that are known to cluster together that can be associated with congenital heart defects. (ACC-AHA)|NCI|N|
C5238706|A difficulty or problem that occurs during intrauterine development that can jeopardize the health of the fetus. (ACC-AHA)|NCI|N|
C5238707|A heart murmur that has an auditory quality in which multiple frequencies are heard either simultaneously or in rapid succession.|NCI|N|
C5238708|Indicates that a person has attended grade school to completion. Depending on school system, this may indicate completion of sixth, seventh or eight grade.|NCI|N|
C5238709|A heart murmur that has an auditory quality in which there are no recognizable characteristics to describe the turbulent sound.|NCI|N|
C5238710|A heart murmur that has an auditory quality in which the turbulence is brief and noted with the diaphragm of the stethoscope only.|NCI|N|
C5238711|Indicates that a person has completed a graduate studies program beyond a bachelor''s degree.|NCI|N|
C5238713|A heart murmur that has an auditory quality with a distinct groaning, croaking, buzzing or twanging.|NCI|N|
C5238714|An indication that an individual does not have a sibling.|NCI|N|
C5238715|An indication that a patient responded to a treatment for Kawasaki disease.|NCI|N|
C5238716|An indication that an individual has a sibling.|NCI|N|
C5238717|Heart sounds are auscultated on the precordial location corresponding to the anterior portion of the thorax directly below the left clavicle.|NCI|N|
C5238718|Heart sounds are auscultated on the precordial location corresponding to the anterior portion of the thorax directly below the right clavicle.|NCI|N|
C5238719|Heart sounds are auscultated on the precordial location corresponding to the blunt extremity of the heart formed by the left ventricle.|NCI|N|
C5238720|Heart sounds are auscultated on the posterior portion of the trunk of the human body between the neck and the pelvis; the dorsum.|NCI|N|
C5238721|Heart sounds are auscultated on the precordial location delineated by a coronal line on the anterior torso marked by the anterior axillary fold on the left side.|NCI|N|
C5238722|Heart sounds are auscultated on the precordial location delineated by a pyramid-shaped space forming the underside of the shoulder between the upper arm and the side of the chest on the left side.|NCI|N|
C5238723|Heart sounds are auscultated on the precordial location corresponding to the tricuspid region, between the fifth, and sixth intercostal spaces at the left sternal border.|NCI|N|
C5238724|Heart sounds are auscultated on the precordial location corresponding to the pleural apices, middle and lower or base, posteriorly, laterally and anteriorly of the left lung.|NCI|N|
C5238725|Heart sounds are auscultated on the precordial location corresponding to the region between the third and fifth intercostal spaces at the left sternal border.|NCI|N|
C5238726|Heart sounds are auscultated on the precordial location corresponding to the pulmonic region, between the second and third intercostal spaces at the left sternal border.|NCI|N|
C5238727|Heart sounds are auscultated on the precordial location delineated by a coronal line on the anterior torso marked by the anterior axillary fold on the right side.|NCI|N|
C5238728|Heart sounds are auscultated on the precordial location delineated by a pyramid-shaped space forming the underside of the shoulder between the upper arm and the side of the chest on the right side.|NCI|N|
C5238729|Heart sounds are auscultated on the precordial location corresponding to the region between the fifth, and sixth intercostal spaces at the right sternal border.|NCI|N|
C5238730|Heart sounds are auscultated on the precordial location corresponding the pleural apices, middle and lower or base, posteriorly, laterally and anteriorly of the right lung.|NCI|N|
C5238731|Heart sounds are auscultated on the precordial location corresponding to the region between the third and fifth intercostal spaces at the right sternal border.|NCI|N|
C5238732|Heart sounds are auscultated on the precordial location corresponding to the aortic region, between the second and third intercostal spaces at the right sternal border.|NCI|N|
C5238733|An abnormality of cardiac structure or function was present at birth.|NCI|N|
C5238735|Information about current or past medications taken by an individual.|HPO|N|
C5238736|A history of a surgery not involving the heart.|NCI|N|
C5238737|An indication that the patient has a history of a non-cardiac surgery other than those listed.|NCI|N|
C5238738|A traumatic event preceded the chief complaint.|NCI|N|
C5238740|Inspection of the region of the anterior surface of the chest and epigastrium reveals a highly or excessively active or hyperkinetic apical impulse.|NCI|N|
C5238741|A clinical finding in which a patient has profound cyanosis associated with hyperpnea; classically associated with tetralogy of Fallot. (ACC-AHA)|NCI|N|
C5238742|A clinical finding in which palpation of the precordium reveals a hyperkinetic cardiac impulse with increased amplitude and forcefulness. (ACC-AHA)|NCI|N|
C5238743|A condition in which there is hypotension because of inadequate pumping function of the heart. (ACC-AHA)|NCI|N|
C5238744|A description of an individual''s current and past use of illicit drugs.|NCI|N|
C5238745|The daily fluid intake is deficient.|NCI|N|
C5238746|The daily salt intake is deficient.|NCI|N|
C5238747|A state of mental excitement, characterized by physiological and behavioral changes.|NCI|N|
C5238750|An indication that infliximab was given as treatment for Kawasaki disease.|NCI|N|
C5238751|The presence of any other illnesses at the time the chief complaint was first noted.|NCI|N|
C5238752|An indication that the patient was in their usual state of health when the chief complaint was manifested.|NCI|N|
C5238753|An indication that the patient was unwell at the time the chief complaint was manifested.|NCI|N|
C5238754|An indication that it is not known whether the patient was in their usual state of health when the chief complaint was manifested.|NCI|N|
C5238756|An indication that the patient was given treatment for Kawasaki disease beyond 10 days of the onset of initial symptoms.|NCI|N|
C5238757|An indication that the patient was given treatment for Kawasaki disease within 10 days of the onset of initial symptoms.|NCI|N|
C5238758|An indication that the patient was given treatment for Kawasaki disease.|NCI|N|
C5238759|An indication that the patient was not given treatment for Kawasaki disease.|NCI|N|
C5238760|An indication that intravenously administered pooled immunoglobulins were given as treatment for Kawasaki disease.|NCI|N|
C5238761|The symptoms of Kawasaki disease that the patient had. (ACC-AHA)|NCI|N|
C5238762|The age of the patient when the symptoms of Kawasaki disease were first noted. (ACC-AHA)|NCI|N|
C5238764|The Kawasaki disease-associated coronary artery aneurysm Z-score is between 2 and 2.5 mm, or if less than 2 mm on first assessment, then a decrease during follow-up of greater than 1 mm, suggesting dilatation only of the coronary arteries.|NCI|N|
C5238765|The Kawasaki disease-associated coronary artery aneurysm Z-score is greater than or equal to 10 mm, or is greater than 8 mm in absolute dimension, suggesting a large or giant aneurysm of the coronary arteries.|NCI|N|
C5238766|The Kawasaki disease-associated coronary artery aneurysm Z-score is greater than or equal to 5 mm but less than 10 mm, and has absolute dimension less than 8 mm, suggesting a medium aneurysm of the coronary arteries.|NCI|N|
C5238767|The Kawasaki disease-associated coronary artery aneurysm Z-score is always less than 2 mm, suggesting no involvement of the coronary arteries.|NCI|N|
C5238768|The Kawasaki disease-associated coronary artery aneurysm Z-score is greater than or equal to 2.5 mm but less than 5 mm, suggesting a small aneurysm of the coronary arteries.|NCI|N|
C5238769|An indication that the patient has a family history of rheumatic fever or rheumatic heart disease.|NCI|N|
C5238770|An indication that the patient has a history of acute rheumatic fever or rheumatic heart disease.|NCI|N|
C5238771|An indication that the patient has a history of alcohol use.|NCI|N|
C5238772|An indication that the patient has a history of an allergic reaction to fish.|NCI|N|
C5238773|An indication that the patient has a history of an allergic reaction to medication.|NCI|N|
C5238774|An indication that the patient has a history of congenital heart disease.|NCI|N|
C5238775|An indication that the patient''s mother had a gestational complication while pregnant with the patient.|NCI|N|
C5238776|An indication that the patient has a history of illicit drug use.|NCI|N|
C5238777|An indication that the patient has a history of Kawasaki disease.|NCI|N|
C5238778|An indication that the patient had a neonatal complication during the period around their birth.|NCI|N|
C5238779|An indication that the patient has a history of an allergic reaction to an allergen other than those listed.|NCI|N|
C5238780|An indication that the patient has a history of rheumatic fever.|NCI|N|
C5238781|An indication that an individual lives with their aunt.|NCI|N|
C5238782|An indication that an individual lives with their foster parent.|NCI|N|
C5238783|An indication that an individual lives with their partner or spouse.|NCI|N|
C5238784|An indication that an individual lives with their uncle.|NCI|N|
C5238792|An indication that the minor criteria for rheumatic heart disease are not present.|NCI|N|
C5238793|An indication that the minor criteria for rheumatic heart disease are present.|NCI|N|
C5238794|A muscular dystrophy or storage disease that causes cardiomyopathy.|NCI|N|
C5238795|A muscular dystrophy that was caused by a primary mitochondrial disorder.|NCI|N|
C5238796|A muscular dystrophy that was caused by a primary disorder of oxidative phosphorylation.|NCI|N|
C5238797|A condition in which there is musculoskeletal chest pain associated with localized inflammation of one or more joints between the rib and the costal cartilage. (ACC-AHA)|NCI|N|
C5238798|A condition in which there is musculoskeletal chest pain associated with inflammation of one or more ribs and/or cartilages. (ACC-AHA)|NCI|N|
C5238799|A condition in which there is musculoskeletal chest pain secondary to trauma to the connective tissues between the ribs. (ACC-AHA)|NCI|N|
C5238800|A condition in which there is musculoskeletal chest pain secondary to trauma to one or more ribs. (ACC-AHA)|NCI|N|
C5238801|A condition in which there is musculoskeletal chest pain secondary to trauma to the sternum. (ACC-AHA)|NCI|N|
C5238802|A myopathy that was caused by a primary disorder of fatty acid oxidation.|NCI|N|
C5238803|A myopathy that was caused by a primary disorder of glycogen storage.|NCI|N|
C5238804|An indication that auscultation of the major arteries of the abdomen demonstrates an absence of vascular sounds.|NCI|N|
C5238805|An indication that the chief complaint was not lessened or improved by another factor.|NCI|N|
C5238806|An indication that the chief complaint was not worsened by another factor.|NCI|N|
C5238807|An indication that the patient does not have a history of congenital heart disease.|NCI|N|
C5238808|An indication that the patient''s mother did not have a gestational complication while pregnant with the patient.|NCI|N|
C5238809|An indication that the patient does not have a history of a Kawasaki disease.|NCI|N|
C5238810|An indication that the patient does not have a history of myopathy.|NCI|N|
C5238811|An indication that the patient did not have a neonatal complication during the period around their birth.|NCI|N|
C5238812|An indication that the patient does not have a history of a surgery not involving the heart.|NCI|N|
C5238813|An indication that the patient does not have a history of a muscular dystrophy or storage disorder other than those listed.|NCI|N|
C5238814|An indication that the patient does not have a history of rheumatic fever.|NCI|N|
C5238815|An indication that the patient does not have a history of alcohol use.|NCI|N|
C5238816|An indication that the patient does not have a history of an allergic reaction.|NCI|N|
C5238817|An indication that the patient does not have a history of illicit drug use.|NCI|N|
C5238818|An indication that a patient did not respond to a treatment for Kawasaki disease.|NCI|N|
C5238819|An indication that no sequelae were noted following treatment for Kawasaki disease.|NCI|N|
C5238820|An indication that no signs or symptoms associated with the chief complaint are present.|NCI|N|
C5238821|A measure of level of the degree to which oxygen is bound to hemoglobin is in the normal range.|NCI|N|
C5238822|A clinical finding in which the point of maximum impulse is located in the midclavicular line, fifth intercostal space.|NCI|N|
C5238825|A history of having had an abnormal finding during a cardiac study other than those listed.|NCI|N|
C5238826|Other clinical findings noted during the patient''s evaluation for cardiac disease.|NCI|N|
C5238827|An indication that the chief complaint was worsened by another factor other than those listed.|NCI|N|
C5238829|A history of a first-degree relative with diagnosed with a heart disease other than those listed.|NCI|N|
C5238830|The chief complaint is noted to occur at a frequency other than those listed.|NCI|N|
C5238831|An indication that the patient has a history of a genetic syndrome associated with a congenital heart defect other than those listed.|NCI|N|
C5238832|An indication that other non-listed medications were given as treatment for Kawasaki disease.|NCI|N|
C5238833|An indication that other non-listed medications were given as treatment for rheumatic fever.|NCI|N|
C5238834|An indication that the patient had a presenting finding of congenital heart disease other than those listed.|NCI|N|
C5238835|A clinical condition in which there is a breath-holding spell associated with pale appearance. (ACC-AHA)|NCI|N|
C5238836|A clinical finding in which turbulent flow is noted by auscultation that is associated with a structural cardiac defect. (ACC-AHA)|NCI|N|
C5238837|An indication that the patient was not previously clinically assessed for the same chief complaint.|NCI|N|
C5238838|An indication that the patient was previously clinically assessed for the same chief complaint.|NCI|N|
C5238839|A spasmodic contraction of the muscles of the feet, especially the ankles, such as during alkalosis or tetany. (ACC-AHA)|NCI|N|
C5238840|An indication that penicillin was given as treatment for rheumatic fever.|NCI|N|
C5238842|A clinical condition in which there is insufficient blood flow to the core or to the extremities. (ACC-AHA)|NCI|N|
C5238844|A clinical finding in which there is an abnormally increased and sustained systolic pulsation found on palpation of the chest wall over the heart, including over a ventricle or the pulmonary artery area. This is typically associated with increased blood volume or pressure in the associated chamber. (ACC-AHA)|NCI|N|
C5238845|A clinical finding in which a heart sound is felt during palpation of the chest wall. (ACC-AHA)|NCI|N|
C5238846|A clinical finding in which there is an abnormally increased and localized brief pulsation found on palpation of the chest wall over the heart, typically associated with ventricular hypertrophy or increased intraventricular pressure. (ACC-AHA)|NCI|N|
C5238847|The presenting findings of congenital heart disease in the patient.|NCI|N|
C5238848|The previous therapies given at the prior clinical assessment of the patient for the current chief complaint.|NCI|N|
C5238849|A prior clinical assessment of the patient for the current chief complaint.|NCI|N|
C5238850|A clinical finding in which palpation of a pulse demonstrates no upstroke or amplitude. (ACC-AHA)|NCI|N|
C5238852|A clinical finding in which palpation of a pulse demonstrates a diminished upstroke and/or amplitude. (ACC-AHA)|NCI|N|
C5238853|A clinical finding in which palpation of the pulse demonstrates a significantly increased upstroke and/or amplitude. (ACC-AHA)|NCI|N|
C5238854|A clinical finding in which palpation of the pulse demonstrates appropriate upstroke, amplitude, and decay. (ACC-AHA)|NCI|N|
C5238856|The sensation of an abnormally rapid heart rate. (AHA/CC)|NCI|N|
C5238857|An indication that a radial-femoral lag is not present.|NCI|N|
C5238858|An indication that a radial-femoral lag is present.|NCI|N|
C5238859|An indication that there was a relapse following treatment for Kawasaki disease.|NCI|N|
C5238860|An indication that findings were resolved following treatment for Kawasaki disease.|NCI|N|
C5238861|An indication that retreatment was required following initial treatment for Kawasaki disease.|NCI|N|
C5238862|The symptoms of rheumatic fever that the patient had. (ACC-AHA)|NCI|N|
C5238863|The age of the patient when the symptoms of rheumatic fever were first noted.|NCI|N|
C5238864|Symptoms, physical examination results, and/or laboratory test results related to diseases and disorders of the connective tissues.|NCI|N|
C5238868|The sequelae of treatment given for Kawasaki disease.|NCI|N|
C5238870|A clinical condition in which there is a breath-holding spell without syncope. (ACC-AHA)|NCI|N|
C5238871|A quick involuntary movement in response to an alarm, surprise, or fright.|NCI|N|
C5238872|Replacement of destroyed tissue by fibrous tissue due to a surgical procedure where a vertical inline incision is made along the sternum, after which the sternum itself is divided. (ACC-AHA)|NCI|N|
C5238873|An indication that steroids were given as treatment for Kawasaki disease.|NCI|N|
C5238874|An indication that steroids were given as treatment for rheumatic fever.|NCI|N|
C5238875|Inspection of the region of the anterior surface of the chest and epigastrium reveals an approximate correspondence of form and constituent configuration on opposite sides of a vertical central dividing line.|NCI|N|
C5238876|A clinical description in which a patient demonstrates evidence of more than one clinical finding suggestive of underlying pathology. (ACC-AHA)|NCI|N|
C5238877|A condition in which syncope occurs due to a disease process of the heart with which the patient was not born. (ACC-AHA)|NCI|N|
C5238878|A condition in which syncope occurs due to a disease process of the heart with which the patient was born. (ACC-AHA)|NCI|N|
C5238879|A condition in which syncope occurs associated with the occurrence of cerebral vasospasm. (ACC-AHA)|NCI|N|
C5238880|A condition in which syncope occurs associated with a sudden and severe increase in pulmonary vascular resistance. (ACC-AHA)|NCI|N|
C5238881|The studies performed during the prior clinical assessment of the patient for the current chief complaint.|NCI|N|
C5238882|Replacement of destroyed tissue by fibrous tissue due to a surgical procedure where an incision was made into the chest wall to the left or to the right of the midline.|NCI|N|
C5238886|An indication that it is unknown whether the patient has taken medication.|NCI|N|
C5238887|An indication that it is unknown whether the patient has a history of alcohol use.|NCI|N|
C5238888|An indication that it is unknown whether the patient has a history of an allergic reaction.|NCI|N|
C5238889|An indication that it is unknown whether the patient has a history of congenital heart disease.|NCI|N|
C5238890|An indication that it is unknown whether the patient''s mother had a gestational complication while pregnant with the patient.|NCI|N|
C5238891|An indication that it is unknown whether the patient has a history of illicit drug use.|NCI|N|
C5238892|An indication that it is unknown whether the patient has a history of Kawasaki disease.|NCI|N|
C5238893|An indication that it is unknown whether the patient has a history of myopathy.|NCI|N|
C5238894|An indication that it is unknown whether the patient had a neonatal complication during the period around their birth.|NCI|N|
C5238895|An indication that it is unknown whether the patient has a history of a surgery not involving the heart.|NCI|N|
C5238896|An indication that it is unknown whether the patient has a history of a muscular dystrophy or storage disorder other than those listed.|NCI|N|
C5238897|An indication that it is unknown whether the patient has a history of rheumatic fever.|NCI|N|
C5238898|An indication that it is unknown whether the patient consumes caffeine on a regular basis.|NCI|N|
C5238899|An indication that it is unknown whether the chief complaint was caused by a traumatic event.|NCI|N|
C5238900|An indication that it is unknown whether the chief complaint was witnessed.|NCI|N|
C5238901|An indication that it is unknown whether an individual has a sibling.|NCI|N|
C5238902|An indication that it is unknown whether the patient has a history of a genetic syndrome associated with a congenital heart defect.|NCI|N|
C5238903|An indication that it is not known whether the patient was previously clinically assessed for the same chief complaint.|NCI|N|
C5238904|The time of day that the chief complaint occurs is not known.|NCI|N|
C5238905|A clinical finding in which there is sufficient blood flow to the core and extremities. (ACC-AHA)|NCI|N|
C5238906|A witness was present when chief complaint was noted by patient.|NCI|N|
C5238907|A history of a first-degree relative with cardiovascular disease or cardiovascular disease risk factors.|NCI|N|
C5238908|A difficulty or problem that occurs at or just after delivery of an infant that can jeopardize the health of the infant.|NCI|N|
C5238909|The sensation of chest pain described as a sharp, lacerating, intense, discomfort; sometimes used to describe the pain felt during an aortic dissection.|NCI|N|
C5238910|A breast adenocarcinoma which is negative for the expression of the HER2 receptor.|NCI|N|
C5238913|A molecular abnormality indicating rearrangement of the KRAS gene.|NCI|N|
C5238919|An indication that elevated concentrations of MET protein were found in a sample.|NCI|N|
C5238920|A cytogenetic abnormality that refers to any translocation involving the FUS gene.|NCI|N|
C5238925|An increase in the ratio of cells expressing the immunoglobulin light chain (Ig LC) kappa versus those expressing Ig LC lambda in a sample.|NCI|N|
C5238928|Acute graft versus host disease occurring in the gastrointestinal tract.|NCI|N|
C5238929|Acute graft versus host disease occurring in the gastrointestinal tract that is resistant to treatment with steroids.|NCI|N|
C5238930|Graft versus host disease occurring in the gastrointestinal tract and is characterized by complications that may be life-threatening.|NCI|N|
C5238931|Skin squamous cell carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5238932|Thyroid gland medullary carcinoma that has spread from its original site of growth to nearby tissues or lymph nodes.|NCI|N|
C5238933|Pleural malignant mesothelioma that has spread from its original site of growth to another anatomic site.|NCI|N|
C5238941|Squamous cell carcinoma arising from the tongue in a mouse.|NCI|N|
C5238955|A constellation of signs and symptoms occurring in the context of administration of isocitrate dehydrogenase (IDH) inhibitors in hematologic malignancies. It is characterized by dyspnea, unexplained fever, pulmonary infiltrates, hypoxia, pleural effusion, acute kidney injury, pericardial effusion, arthralgia, lymphadenopathy, edema and weight gain.|NCI|N|
C5238956|Differentiated thyroid gland carcinoma that is not amenable to surgical resection.|NCI|N|
C5238957|A glioma that is amenable to surgical resection.|NCI|N|
C5238965|Acute graft versus host disease that is resistant to treatment with steroids.|NCI|N|
C5238966|Metastatic pancreatic adenocarcinoma that is resistant to treatment.|NCI|N|
C5238969|A morphologic finding indicating the presence of pigmented dendritic melanocytes in a tissue sample.|NCI|N|
C5238970|Generally defined as 3-7 RBC units in 16 weeks in at least 2 transfusion episodes, maximum 3 in 8 weeks.|NCI|N|
C5238971|Generally defined as greater than or equal to 8 RBC units in 16 weeks, greater than or equal to 4 transfusion episodes in 8 weeks.|NCI|N|
C5238975|A rare phyllodes tumor that arises from mammary-like glands in the anogenital region.|NCI|N|
C5238993|The most clinically favorable response recorded from the start of the treatment until a specified time point in a study.|NCI|N|
C5238994|The most favorable response measured for a secondary endpoint recorded from the start of the treatment until a specified time point in a study.|NCI|N|
C5239002|Bone marrow: Age-adjusted normocellularity; less than 5 percent blasts; less than or equal to grade 1 myelofibrosis and Peripheral blood: Hemoglobin greater than or equal to 100 g/L and less than upper normal limit; neutrophil count greater than or equal 1x10^9/L and less than upper normal limit; Platelet count greater or equal to 100x10^9/L and less than upper normal limit; less than 2 percent immature myeloid cells and Clinical: Resolution of disease symptoms; spleen and liver not palpable; no evidence of extramedullary hematopoiesis (adapted from Revised Response Criteria for Myelofibrosis: International Working Group-Myeloproliferative Neoplasms Research and Treatment (IWG-MRT) and European LeukemiaNet (ELN) consensus report. BLOOD 22 AUGUST 2013 x VOLUME 122 NUMBER 8)|NCI|N|
C5239003|Peripheral blood: Hemoglobin greater than or equal to 100 g/L and less than upper normal limit; neutrophil count greater than or equal to 1x10^9/L and less than upper normal limit; platelet count greater than or equal to 100x10^9/L and less than upper normal limit; less than 2 percent immature myeloid cells and Clinical: Resolution of disease symptoms; spleen and liver not palpable; no evidence of extramedullary hematopoiesis or Bone marrow: Age-adjusted normocellularity; less than 5 percent blasts; less than grade 1 myelofibrosis and peripheral blood: Hemoglobin greater than or equal to 85 but less than 100 g/L and less than upper normal limit; neutrophil count greater than 1x10^9/L and less than upper normal limit; platelet count greater than or equal to 50 but less than 100x10^9/L and less than upper normal limit; less than 2 percent immature myeloid cells and Clinical: Resolution of disease symptoms; spleen and liver not palpable; no evidence of extramedullary hematopoiesis(adapted from Revised Response Criteria for Myelofibrosis: International Working Group-Myeloproliferative Neoplasms Research and Treatment (IWG-MRT) and European LeukemiaNet (ELN) consensus report. BLOOD 22 AUGUST 2013 x VOLUME 122 NUMBER 8)|NCI|N|
C5239004|Re-emergence of a pre-existing cytogenetic or molecular abnormality that is confirmed by repeat testing (adapted from Revised Response Criteria for Myelofibrosis: International Working Group-Myeloproliferative Neoplasms Research and Treatment (IWG-MRT) and European LeukemiaNet (ELN) consensus report. BLOOD 22 AUGUST 2013 x VOLUME 122 NUMBER 8)|NCI|N|
C5239005|The achievement of anemia spleen or symptoms response without progressive disease or increase in severity of anemia thrombocytopenia or neutropenia (adapted from Revised Response Criteria for Myelofibrosis: International Working Group-Myeloproliferative Neoplasms Research and Treatment (IWG-MRT) and European LeukemiaNet (ELN) consensus report. BLOOD 22 AUGUST 2013 x VOLUME 122 NUMBER 8)|NCI|N|
C5239006|No longer meeting criteria for at least clinical improvement after achieving complete response partial response or clinical improvement or loss of anemia response persisting for at least 1 month or loss of spleen response persisting for at least 1 month (adapted from Revised Response Criteria for Myelofibrosis: International Working Group-Myeloproliferative Neoplasms Research and Treatment (IWG-MRT) and European LeukemiaNet (ELN) consensus report. BLOOD 22 AUGUST 2013 x VOLUME 122 NUMBER 8)|NCI|N|
C5239007|A greater than or equal to 50 percent reduction in the myeloproliferative neoplasm symptom assessment form total symptom score (adapted from Revised Response Criteria for Myelofibrosis: International Working Group-Myeloproliferative Neoplasms Research and Treatment (IWG-MRT) and European LeukemiaNet (ELN) consensus report. BLOOD 22 AUGUST 2013 x VOLUME 122 NUMBER 8)|NCI|N|
C5239008|Belonging to none of the above listed response categories (adapted from Revised Response Criteria for Myelofibrosis: International Working Group-Myeloproliferative Neoplasms Research and Treatment (IWG-MRT) and European LeukemiaNet (ELN) consensus report. BLOOD 22 AUGUST 2013 x VOLUME 122 NUMBER 8)|NCI|N|
C5239009|Appearance of a new splenomegaly that is palpable at least 5 cm below the left costal margin or A greater than or equal to 100 percent increase in palpable distance, below left costal margin, for baseline splenomegaly of 5 to 10 cm or A 50 percent increase in palpable distance, below left costal margin, for baseline splenomegaly of greater than 10 cm or Leukemic transformation confirmed by a bone marrow blast count of greater than or equal to 20 percent or A peripheral blood blast content of greater than or equal to 20 percent associated with an absolute blast count of greater than or equal to 1x10^9/L that lasts for at least 2 weeks (adapted from Revised Response Criteria for Myelofibrosis: International Working Group-Myeloproliferative Neoplasms Research and Treatment (IWG-MRT) and European LeukemiaNet (ELN) consensus report. BLOOD, 22 AUGUST 2013 x VOLUME 122, NUMBER 8)|NCI|N|
C5239010|Transfusion-independent patients: a greater than or equal to 20 g/L increase in hemoglobin level or for transfusion-dependent patients: becoming transfusion-independent (adapted from Revised Response Criteria for Myelofibrosis: International Working Group-Myeloproliferative Neoplasms Research and Treatment (IWG-MRT) and European LeukemiaNet (ELN) consensus report. BLOOD 22 AUGUST 2013 x VOLUME 122 NUMBER 8)|NCI|N|
C5239011|At least 10 metaphases must be analyzed for cytogenetic response evaluation and requires confirmation by repeat testing within 6 months window. Complete response: eradication of a preexisting abnormality. Partial response: greater than or equal to 50 percent reduction in abnormal metaphases. (partial response applies only to patients with at least ten abnormal metaphases at baseline) (adapted from Revised Response Criteria for Myelofibrosis: International Working Group-Myeloproliferative Neoplasms Research and Treatment (IWG-MRT) and European LeukemiaNet (ELN) consensus report. BLOOD 22 AUGUST 2013 x VOLUME 122 NUMBER 8)|NCI|N|
C5239012|Burkitt lymphoma that affects the skin.|NCI|N|
C5239013|A baseline splenomegaly that is palpable at 5-10 cm below the left costal margin becomes not palpable or A baseline splenomegaly that is palpable at greater than 10 cm below the left costal margin decreases by greater than or equal to 50 percent. A baseline splenomegaly that is palpable at less than 5 cm below the left costal margin is not eligible for spleen response. A spleen response requires confirmation by MRI or computed tomography showing greater than or equal to 35 percent spleen volume reduction. (adapted from Revised Response Criteria for Myelofibrosis: International Working Group-Myeloproliferative Neoplasms Research and Treatment (IWG-MRT) and European LeukemiaNet (ELN) consensus report. BLOOD 22 AUGUST 2013 x VOLUME 122 NUMBER 8)|NCI|N|
C5239014|Molecular response evaluation must be analyzed in peripheral blood granulocytes and requires confirmation by repeat testing within 6 months window. Complete response: Eradication of a pre-existing abnormality. Partial response: greater than or equal to 50 percent decrease in allele burden (partial response applies only to patients with at least 20 percent mutant allele burden at baseline.) (adapted from Revised Response Criteria for Myelofibrosis: International Working Group-Myeloproliferative Neoplasms Research and Treatment (IWG-MRT) and European LeukemiaNet (ELN) consensus report. BLOOD 22 AUGUST 2013 x VOLUME 122 NUMBER 8)|NCI|N|
C5239027|Carcinoma that has spread diffusely to the gastrointestinal system.|NCI|N|
C5239028|High grade sarcoma that has spread from its original site of growth to another anatomic site.|NCI|N|
C5239029|High grade sarcoma that has spread from its original site of growth to nearby tissues or lymph nodes.|NCI|N|
C5239030|A malignant neoplasm that has spread to the digestive system from another anatomic site.|NCI|N|
C5239031|Myxofibrosarcoma that has spread from its original site of growth to another anatomic site.|NCI|N|
C5239032|Myxofibrosarcoma that has spread from its original site of growth to nearby tissues or lymph nodes.|NCI|N|
C5239033|A benign or malignant neoplasm that affects the thoracic region of the spine.|NCI|N|
C5239034|A benign or malignant neoplasm that affects the lumbar region of the spine.|NCI|N|
C5239035|A benign or malignant neoplasm that affects the sacral region of the spine.|NCI|N|
C5239038|Myelodysplastic syndrome, unclassifiable characterized by refractory cytopenia with unilineage dysplasia or refractory cytopenia with multilineage dysplasia but with 1 percent blasts in the peripheral blood.|NCI|N|
C5239039|Myelodysplastic syndrome, unclassifiable characterized by persistent cytopenia (s) with 1 percent or fewer blasts in the blood and fewer than 5% in the bone marrow, unequivocal dysplasia in less than 10 percent of the cells in one or more myeloid lineages, and cytogenetic abnormalities considered as presumptive evidence of myelodysplastic syndrome.|NCI|N|
C5239042|A BCR-ABL1 positive chronic myelogenous leukemia with clinicopathologic, cytogenetic, and molecular findings that define a chronic myelogenous leukemia as high risk.|NCI|N|
C5239043|A BCR-ABL1 positive chronic myelogenous leukemia with clinicopathologic, cytogenetic, and molecular findings that define a chronic myelogenous leukemia as very high risk.|NCI|N|
C5239044|Prostate carcinoma with clinicopathologic, cytogenetic, and molecular findings that define a prostate carcinoma as high risk.|NCI|N|
C5239045|Prostate carcinoma with clinicopathologic, cytogenetic, and molecular findings that define a prostate carcinoma as very high risk.|NCI|N|
C5239046|Acute lymphoblastic leukemia with clinicopathologic, cytogenetic, and molecular findings that define an acute lymphoblastic leukemia as high risk.|NCI|N|
C5239052|A benign or malignant neoplasm that affects the lumbosacral region of the spine.|NCI|N|
C5239053|A change in the nucleotide sequence of the NT5C2 gene.|NCI|N|
C5239056|A benign or malignant neoplasm that affects the neck region of the spine.|NCI|N|
C5239059|A liposarcoma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5239067|A subject score of 0 on a symptoms extent scale that ranges from 0: Not at All to 4: Very Bothered.|NCI|N|
C5239068|A malignant peripheral nerve sheath tumor that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5239069|A dedifferentiated liposarcoma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5239070|Fibrosarcoma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5239071|An angiosarcoma that is not amenable to surgical resection.|NCI|N|
C5239072|A myxoid liposarcoma that is not amenable to surgical resection.|NCI|N|
C5239073|An angiosarcoma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5239074|An epithelioid hemangioendothelioma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5239075|A round cell liposarcoma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5239076|An epithelioid hemangioendothelioma that is not amenable to surgical resection.|NCI|N|
C5239077|A round cell liposarcoma that is not amenable to surgical resection.|NCI|N|
C5239078|A soft tissue leiomyosarcoma that has spread from the original site of growth to another anatomic site.|NCI|N|
C5239079|A soft tissue leiomyosarcoma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5239080|A soft tissue leiomyosarcoma that is not amenable to surgical resection.|NCI|N|
C5239087|Myelodysplastic syndrome caused by inherited damaging mutations in cancer susceptibility genes.|NCI|N|
C5239088|A change in the nucleotide sequence of the SAMD9 gene.|NCI|N|
C5239089|A change in the nucleotide sequence of the SAMD9L gene.|NCI|N|
C5239090|A familial myelodysplastic syndrome caused by inherited mutations in the SAMD9 gene.|NCI|N|
C5239091|A familial myelodysplastic syndrome caused by inherited mutations in the SAMD9L gene.|NCI|N|
C5239093|A cytogenetic abnormality that refers to the translocation of the short arm (p11.2) of chromosome 10 and the long arm (q23) of chromosome 11. It is associated with KMT2A (MLL)/ABI1 fusions and acute myeloid leukemia.|NCI|N|
C5239094|A cytogenetic abnormality that refers to the translocation of the long arm (q21) of chromosome 1 and the long arm (q23) of chromosome 11. It is associated with KMT2A (MLL)/MLLT11 (AF1Q) fusions, acute myeloid leukemia and some cases of acute lymphoblastic leukemia.|NCI|N|
C5239095|A cytogenetic abnormality that refers to the translocation of the long arm (q23) of chromosome 11 and the long arm (q12-21) of chromosome 19. It is associated with KMT2A (MLL) fusions, including those with MLLT6 (AF17), and acute myeloid leukemia.|NCI|N|
C5239098|A cytogenetic abnormality that refers to the translocation of the long arm (q23) of chromosome 11 and the short arm (p13) of chromosome 19. It is associated with KMT2A (MLL) fusions, including those with MLLT1 (ENL) and ELL, and acute myeloid leukemia.|NCI|N|
C5239100|A cytogenetic abnormality that refers to the translocation of the long arm (q23) of chromosome 3 and the short arm (p12.3) of chromosome 12. It is associated with ETV6/MECOM (EVI1) fusions, myeloproliferative disorders, myelodysplastic syndromes and acute myelogenous leukemia.|NCI|N|
C5239103|A cytogenetic abnormality that refers to deletion of chromosome bands 31-32 on the long arm of chromosome 5.|NCI|N|
C5239104|A cytogenetic abnormality that refers to deletion of chromosome bands 14-21 on the long arm of chromosome 13.|NCI|N|
C5239107|A cytogenetic abnormality that refers to the translocation of the long arm (q24) of chromosome 16 and the long arm (q22) of chromosome 22. It is associated with RUNX1/CBFA2T3 fusions, myelodysplastic syndromes and acute myeloid leukemia.|NCI|N|
C5239108|The presence of mutations in only one allele of the CEBPA gene.|NCI|N|
C5239111|HER2-negative breast adenocarcinoma that has spread to another anatomic site.|NCI|N|
C5239112|The reemergence of nodal peripheral T-cell lymphoma with TFH phenotype after a period of remission.|NCI|N|
C5239113|The reemergence of follicular T-cell lymphoma after a period of remission.|NCI|N|
C5239114|Follicular T-cell lymphoma that is resistant to treatment.|NCI|N|
C5239115|HER2-negative breast adenocarcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5239116|The reemergence of HER2-negative breast adenocarcinoma after a period of remission.|NCI|N|
C5239117|HER2-negative breast adenocarcinoma that is resistant to treatment.|NCI|N|
C5239129|Malignant mesothelioma that arises from the peritoneum. It is characterized by the presence of spindle cells. Anaplastic morphologic features and multinucleated malignant cells may also be seen.|NCI|N|
C5239130|Malignant mesothelioma that arises from the peritoneum. It is characterized by the presence of epithelioid and sarcomatoid components, with each component representing at least 10% of the tumor.|NCI|N|
C5239134|A finding indicative of dysregulated glucose metabolism. The glycemic abnormalities may include hyperglycemia, hypoglycemia or glycemic variability.|NCI|N|
C5239137|The reemergence of a disorder as diagnosed by clinical and/or laboratory evidence following two documented periods of remission.|NCI|N|
C5239138|The reemergence of a disorder as diagnosed by clinical and/or laboratory evidence following three documented periods of remission.|NCI|N|
C5239139|The reemergence of a disorder as diagnosed by clinical and/or laboratory evidence following four documented periods of remission.|NCI|N|
C5239140|The reemergence of a disorder as diagnosed by clinical and/or laboratory evidence following five documented periods of remission.|NCI|N|
C5239141|The reemergence of a disorder as diagnosed by clinical and/or laboratory evidence following six documented periods of remission.|NCI|N|
C5239142|One allele matches for one HLA locus.|NCI|N|
C5239143|A mismatch exists at both alleles.|NCI|N|
C5239144|Both alleles match for one HLA locus|NCI|N|
C5239150|An indication that the mortality of the individual was related to the stem cell treatment.|NCI|N|
C5239163|Age of subject (in days) when the subject enrolled in the study.|NCI|N|
C5239164|Age of subject (in days) at the last known survival status.|NCI|N|
C5239165|Age of subject (in days) when vital signs were recorded.|NCI|N|
C5239166|Age of subject (in days) at the time of blood analysis.|NCI|N|
C5239167|Age of subject (in days) at the time of lumbar puncture.|NCI|N|
C5239168|Age of subject (in days) when molecular analysis was performed.|NCI|N|
C5239169|Age of subject (in days) at the start of the adjuvant therapy.|NCI|N|
C5239172|Age of subject (in days) when their neutrophil count exceeded a threshold of 500 (ANC/mm3) during the course.|NCI|N|
C5239173|Age of subject (in days) at the time of stem cell transplantation.|NCI|N|
C5239174|Age of subject (in days) at the time of bone marrow analysis.|NCI|N|
C5239175|Age of subject (in days) at assessment of minimal residual disease.|NCI|N|
C5239176|Age of subject (in days) when the response assessment was made.|NCI|N|
C5239177|Age of subject (in days) at the time of the Central Nervous System response assessment.|NCI|N|
C5239178|Age of subject (in days) at the time of the myeloid sarcoma response assessment (excluding CNS involvement).|NCI|N|
C5239179|Age of subject (in days) at the time of echocardiogram.|NCI|N|
C5239180|Age of subject (in days) at the diagnosis of the secondary malignant neoplasm.|NCI|N|
C5239189|The status of the subject''s karyotype.|NCI|N|
C5239191|An observation that a situation is related to immunotherapy received.|NCI|N|
C5239192|A complication of the disease that existed prior to treatment.|NCI|N|
C5239193|A complication of the disease that occurred after treatment.|NCI|N|
C5239194|Contamination of a cerebrospinal fluid sample by red blood cells greater than 10/mm3.|NCI|N|
C5239195|An indication that leukocytes were found in a cerebrospinal fluid sample.|NCI|N|
C5239196|An indication that blasts were found in the cerebrospinal fluid sample.|NCI|N|
C5239197|An indication that erythrocytes were found in the cerebrospinal fluid sample.|NCI|N|
C5239198|The organs involved in the graft vs host disease.|NCI|N|
C5239236|The extent of HLA-A matching between the donor and the recipient.|NCI|N|
C5239237|The extent of HLA-B matching between the donor and the recipient.|NCI|N|
C5239238|The extent of HLA-C matching between the donor and the recipient.|NCI|N|
C5239239|The extent of HLA-DRB1 matching between the donor and the recipient.|NCI|N|
C5239240|The extent of HLA-DQ matching between the donor and the recipient.|NCI|N|
C5239241|The current status of the subject''s enrollment.|NCI|N|
C5239242|The study subject is/was not enrolled.|NCI|N|
C5239243|The trisomy 21 status of the individual.|NCI|N|
C5239244|The individual''s last known survival status.|NCI|N|
C5239246|The subject or their guardian has refused further treatment.|NCI|N|
C5239247|The end of the planned treatment.|NCI|N|
C5239266|An indication that the reported pathogen was confirmed or suspected as the cause of an infection.|NCI|N|
C5239267|The use of flow cytometry to detect whether material or cells in a sample or specimen is sorted differently than a normal control analyte.|NCI|N|
C5239268|Sensitivity of modality used to determine minimal residual disease.|NCI|N|
C5239269|Source of sample used for minimal residual disease assessment.|NCI|N|
C5239270|The percent of cells that were blasts in the subject''s bone marrow used to make the response assessment.|NCI|N|
C5239271|The modality used to determine the bone marrow percent blasts.|NCI|N|
C5239272|The absolute neutrophil count used to make the response assessment.|NCI|N|
C5239273|Subject exceeded an absolute neutrophil count threshold of >= 500 (ANC/mm3) at the time of the response assessment.|NCI|N|
C5239276|The response of the myeloid sarcoma to the treatment.|NCI|N|
C5239279|A radiologic finding indicating high uptake of FDG by a solid tumor during positron emission tomography (PET).|NCI|N|
C5239280|An indication that the subject has died due to the progression of their disease.|NCI|N|
C5239282|A neuroendocrine neoplasm that is not amenable to surgical resection.|NCI|N|
C5239283|Esophageal carcinoma that has spread to nearby tissues or lymph nodes.|NCI|N|
C5239284|Anal carcinoma that has spread to nearby tissues or lymph nodes.|NCI|N|
C5239285|Adenocarcinoma that has spread to nearby tissues or lymph nodes.|NCI|N|
C5239286|A histiocytic and dendritic cell neoplasm that affects the skin.|NCI|N|
C5239287|Carcinoma that arises from the intrahepatic, hilar, extrahepatic bile ducts, cystic duct, or gallbladder and has spread to nearby tissues or lymph nodes.|NCI|N|
C5239288|A very rare dendritic cell tumor affecting the skin. It is composed of spindle to ovoid cells with a phenotype that is similar to the Langerhans cells. It manifests with cutaneous papules, nodules, and plaques. The clinical course is variable.|NCI|N|
C5239289|A pancreatic carcinoma that has spread from its original site of growth to nearby tissues or lymph nodes.|NCI|N|
C5239290|Rosai-Dorfman disease affecting the skin. It manifests with multiple papules, nodules, or plaques.|NCI|N|
C5239291|Erdheim-Chester disease that affects the skin.|NCI|N|
C5239292|A reactive cutaneous proliferation of macrophages associated with local trauma. It is characterized by the presence of giant cells with ground-glass cytoplasm. It presents as a single, asymptomatic, cutaneous or mucosal, firm xanthomatous to dark-red papule or nodule. (WHO 2018)|NCI|N|
C5239293|A reactive cutaneous proliferation of macrophages. It is characterized by the presence of giant cells with ground-glass cytoplasm. It presents with multiple cutaneous or mucosal papules or nodules.|NCI|N|
C5239294|Cholangiocarcinoma that has spread to nearby tissues or lymph nodes.|NCI|N|
C5239295|Renal cell carcinoma that has spread to nearby tissues or lymph nodes.|NCI|N|
C5239297|A nucleotide substitution at position 1100 of the coding sequence of the NT5C2 gene where guanine has been mutated to adenine.|NCI|N|
C5239298|A variation in the amino acid sequence for the cytosolic purine 5''-nucleotidase protein.|NCI|N|
C5239299|A change in the amino acid residue at position 367 in the cytosolic purine 5''-nucleotidase protein where arginine has been replaced by glutamine.|NCI|N|
C5239300|The reason the protocol-specified drug or therapeutic procedure was interrupted or stopped.|NCI|N|
C5239301|A nucleotide substitution at position 1820 of the coding sequence of the NTRK1 gene where guanine has been mutated to thymine.|NCI|N|
C5239302|A variation in the amino acid sequence for the high affinity nerve growth factor receptor protein.|NCI|N|
C5239303|A change in the amino acid residue at position 607 in the high affinity nerve growth factor receptor protein where glycine has been replaced by valine.|NCI|N|
C5239304|A process in which blood or tissue samples are analyzed to determine their human leukocyte antigen (HLA) profiles so that transplant materials can be transferred into a patient with the same or similar profile.|NCI|N|
C5239305|A nucleotide substitution at position 1792 of the coding sequence of the NTRK1 gene where cytosine has been mutated to thymine.|NCI|N|
C5239306|A change in the amino acid residue at position 598 in the high affinity nerve growth factor receptor protein where histidine has been replaced by tyrosine.|NCI|N|
C5239307|A nucleotide substitution at position 964 of the coding sequence of the PAX5 gene where guanine has been mutated to adenine.|NCI|N|
C5239308|A change in the amino acid residue at position 322 in paired box protein Pax-5 where alanine has been replaced by threonine.|NCI|N|
C5239310|A variation in the amino acid sequence for PHD finger protein 6.|NCI|N|
C5239311|A change in the amino acid residue at position 225 in PHD finger protein 6 where arginine has been replaced by another amino acid.|NCI|N|
C5239312|A nucleotide substitution at position 3583 of the coding sequence of the PTCH1 gene where adenine has been mutated to thymine.|NCI|N|
C5239313|A variation in the amino acid sequence for the protein patched homolog 1 protein.|NCI|N|
C5239314|A change in the amino acid residue at position 1195 in the protein patched homolog 1 protein where threonine has been replaced by serine.|NCI|N|
C5239315|A malignant female reproductive system neoplasm that progresses between one and six months of completing the last platinum therapy.|NCI|N|
C5239316|A variation in the amino acid sequence for the tyrosine-protein phosphatase non-receptor type 11 protein.|NCI|N|
C5239317|A nucleotide substitution at position 545 of the coding sequence of the PTEN gene where thymine has been mutated to guanine.|NCI|N|
C5239318|A nucleotide substitution at position 545 of the coding sequence of the PTEN gene where thymine has been mutated to adenine.|NCI|N|
C5239319|A change in the amino acid residue at position 182 in the phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN protein where leucine has been replaced by a stop codon.|NCI|N|
C5239322|A nucleotide substitution at position 1508 of the coding sequence of the PTPN11 gene where guanine has been mutated to cytosine.|NCI|N|
C5239323|A change in the amino acid residue at position 503 in the tyrosine-protein phosphatase non-receptor type 11 protein where glycine has been replaced by alanine.|NCI|N|
C5239324|A variation in the amino acid sequence for the retinoblastoma-associated protein.|NCI|N|
C5239325|A change in the amino acid residue at position 650 in the retinoblastoma-associated protein where phenylalanine has been replaced by serine.|NCI|N|
C5239326|A variation in the amino acid sequence for the succinate dehydrogenase [ubiquinone] iron-sulfur subunit, mitochondrial protein.|NCI|N|
C5239327|A nucleotide substitution at position 487 of the coding sequence of the SDHB gene where thymine has been mutated to cytosine.|NCI|N|
C5239328|A change in the amino acid residue at position 163 in the succinate dehydrogenase [ubiquinone] iron-sulfur subunit, mitochondrial protein where serine has been replaced by proline.|NCI|N|
C5239329|A variation in the amino acid sequence for the succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial protein.|NCI|N|
C5239330|A nucleotide substitution at position 34 of the coding sequence of the SDHD gene where guanine has been mutated to adenine.|NCI|N|
C5239331|A change in the amino acid residue at position 12 in the succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial protein where glycine has been replaced by serine.|NCI|N|
C5239332|A variation in the amino acid sequence for the histone-lysine methyltransferase SETD2 protein.|NCI|N|
C5239333|A change in the amino acid residue at position 1265 in the histone-lysine methyltransferase SETD2 protein where glutamic acid has been replaced one or more non-canonical amino acids followed by a stop codon.|NCI|N|
C5239334|An adenocarcinoma that arises from the pancreas and has not spread to other anatomic sites.|NCI|N|
C5239335|Bladder urachal urothelial carcinoma that has spread to another anatomic site.|NCI|N|
C5239336|A variation in the amino acid sequence for the smoothened homolog protein.|NCI|N|
C5239337|A change in the amino acid residue at position 374 in the smoothened homolog protein where alanine has been replaced by glutamic acid.|NCI|N|
C5239342|The reemergence of a soft tissue sarcoma of the trunk and extremities after a period of remission.|NCI|N|
C5239346|A variation in the amino acid sequence for the cohesin subunit SA-2 protein.|NCI|N|
C5239347|A change in the amino acid residue at position 1012 in the cohesin subunit SA-2 protein where arginine has been replaced by another amino acid.|NCI|N|
C5239348|A change in the nucleotide sequence of the STAT5B gene.|NCI|N|
C5239349|A nucleotide substitution at position 1924 of the coding sequence of the STAT5B gene where adenine has been mutated to cytosine.|NCI|N|
C5239350|A variation in the amino acid sequence for the signal transducer and activator of transcription 5B protein.|NCI|N|
C5239351|A change in the amino acid residue at position 642 in the signal transducer and activator of transcription 5B protein where asparagine has been replaced by histidine.|NCI|N|
C5239353|An insertion of the amino acid sequence lysine-glycine-lysine-glycine-glycine-glycine between the asparagine at position 713 and the alanine at position 714 of the signal transducer and activator of transcription 5B protein.|NCI|N|
C5239354|A change in the amino acid composition at position 159 in the ALK tyrosine kinase receptor protein where a frameshift mutation results in the substitution of the glycine with one or more non-canonical amino acids followed by a stop codon.|NCI|N|
C5239355|A change in the nucleotide sequence of the TEK gene.|NCI|N|
C5239356|A variation in the amino acid sequence for the angiopoietin-1 receptor protein.|NCI|N|
C5239357|A change in the amino acid residue at position 452 in the angiopoietin-1 receptor protein where asparagine has been replaced by aspartic acid.|NCI|N|
C5239358|A change in the nucleotide sequence of the TLR8 gene.|NCI|N|
C5239359|A variation in the amino acid sequence for the toll-like receptor 8 protein.|NCI|N|
C5239360|A change in the amino acid residue at position 515 in the toll-like receptor 8 protein where asparagine has been replaced by histidine.|NCI|N|
C5239361|A change in the nucleotide sequence of the TOP2A gene.|NCI|N|
C5239362|A variation in the amino acid sequence for the DNA topoisomerase 2-alpha protein.|NCI|N|
C5239363|A change in the amino acid residue at position 1515 in the DNA topoisomerase 2-alpha protein where alanine has been replaced by serine.|NCI|N|
C5239364|A change in the amino acid residue at position 1386 in the DNA topoisomerase 2-alpha protein where glycine has been replaced by aspartic acid.|NCI|N|
C5239365|An anaplastic oligodendroglioma that is resistant to treatment.|NCI|N|
C5239366|An anaplastic astrocytoma that is resistant to treatment.|NCI|N|
C5239367|A nucleotide substitution at position 396 of the coding sequence of the TP53 gene where guanine has been mutated to cytosine.|NCI|N|
C5239368|A change in the amino acid residue at position 132 in the cellular tumor antigen p53 protein where lysine has been replaced by asparagine.|NCI|N|
C5239369|A change in the amino acid composition at position 302 of the cellular tumor antigen p53 protein where a frameshift mutation results in the substitution of the glycine with one or more non-canonical amino acids followed by a stop codon.|NCI|N|
C5239370|A nucleotide substitution at position 1010 of the coding sequence of the TP53 gene where guanine has been mutated to adenine.|NCI|N|
C5239371|A nucleotide substitution at position 638 of the coding sequence of the TP53 gene where guanine has been mutated to adenine.|NCI|N|
C5239372|A change in the amino acid residue at position 213 in the cellular tumor antigen p53 protein where arginine has been replaced by glutamine.|NCI|N|
C5239373|Choroid melanoma that has spread from its primary site to another anatomic site.|NCI|N|
C5239374|Mucosal melanoma that has spread from its primary site to another anatomic site.|NCI|N|
C5239375|A nucleotide substitution at position 815 of the coding sequence of the TP53 gene where thymine has been mutated to cytosine.|NCI|N|
C5239376|A change in the amino acid residue at position 272 in the cellular tumor antigen p53 protein where valine has been replaced by alanine.|NCI|N|
C5239377|A change in the nucleotide sequence of the XPC gene.|NCI|N|
C5239378|A variation in the amino acid sequence for the DNA repair protein complementing XP-C cells.|NCI|N|
C5239379|A change in the amino acid residue at position 346 in the DNA repair protein complementing XP-C cells where serine has been replaced by proline.|NCI|N|
C5239380|A variation in the amino acid sequence for the vascular endothelial growth factor receptor 3 protein.|NCI|N|
C5239381|A change in the amino acid composition at position 992 in the vascular endothelial growth factor receptor 3 protein where a frameshift mutation results in the substitution of the alanine with one or more non-canonical amino acids followed by a stop codon.|NCI|N|
C5239382|A variation in the amino acid sequence for the mediator of RNA polymerase II transcription subunit 12 protein.|NCI|N|
C5239383|A change in the amino acid composition at position 672 in the mediator of RNA polymerase II transcription subunit 12 protein where a frameshift mutation results in the substitution of the serine with one or more non-canonical amino acids followed by a stop codon.|NCI|N|
C5239384|A variation in the amino acid sequence for the adenine DNA glycosylase protein.|NCI|N|
C5239385|A change in the amino acid residue at position 338 in the adenine DNA glycosylase protein where glutamine has been replaced by histidine.|NCI|N|
C5239388|A reactive lesion characterized by the presence of a bland histiocytic cellular infiltrate admixed with giant cells.|NCI|N|
C5239392|A benign nasal cavity exophytic papillary neoplasm with fibrovascular cores lined by epithelial cells. It arises from the lower anterior nasal septum. Clinical manifestations include nasal obstruction, epistaxis, and the presence of a mass.|NCI|N|
C5239393|A morphologic finding indicating the presence of a mixed population of neoplastic epithelial cells in a tumor sample.|NCI|N|
C5239394|The reemergence of a primary central nervous system neoplasm after a period of remission.|NCI|N|
C5239396|An adenocarcinoma that arises from the common bile duct distal to the insertion of the cystic duct.|NCI|N|
C5239401|A myelodysplastic syndrome characterized by the presence of a point mutation in one of the following genes, TP53, EZH2, ETV6, RUNX1, and ASXL1. These gene mutations are independent predictors of poor prognosis.|NCI|N|
C5239448|Environmental, occupational or consumer-based exposure to airborne gases and particulates emitted by an indoor or outdoor grill used for cooking.|NCI|N|
C5239451|A cytogenetic abnormality that refers to a translocation involving the MYCN gene.|NCI|N|
C5239454|A change in the amino acid composition of the G1/S-specific cyclin-D3 protein where a frameshift mutation results in the insertion of 63 non-canonic amino acids followed by a stop codon immediately after the arginine residue at position 256.|NCI|N|
C5239455|A variation in the amino acid sequence for the discoidin domain-containing receptor 2 protein.|NCI|N|
C5239480|An indication that biochemical markers of a disease are present but morphological markers are absent.|NCI|N|
C5239488|Oral cavity squamous cell carcinoma that has spread from its original site of growth to nearby tissues or lymph nodes.|NCI|N|
C5239499|Thyroid gland oncocytic carcinoma that is resistant to treatment.|NCI|N|
C5239505|Breast adenocarcinoma that has spread from its original site of growth to nearby tissues or lymph nodes.|NCI|N|
C5239506|Merkel cell carcinoma that has spread to nearby tissues or lymph nodes.|NCI|N|
C5239508|A change in the amino acid residue at position 66 in the endoplasmin protein where isoleucine has been replaced by threonine.|NCI|N|
C5239518|A nucleotide substitution at position 2047 of the coding sequence of the JAK2 gene where adenine has been mutated to guanine.|NCI|N|
C5239525|A molecular abnormality that results in monoallelic loss of function mutations located within the long arm of chromosome 19 (19q).|NCI|N|
C5239538|A change in the nucleotide sequence of the RSPO3 gene.|NCI|N|
C5239539|A change in the amino acid residue at position 742 in the splicing factor 3B subunit 1 protein where glycine has been replaced by another amino acid.|NCI|N|
C5239542|A change in the amino acid residue at position 676 in the receptor-type tyrosine-protein kinase FLT3 protein where asparagine has been replaced by lysine.|NCI|N|
C5239545|A change in the amino acid composition at position 2467 of the neurogenic locus notch homolog protein 1 where a frameshift mutation results in the substitution of the serine with a proline followed by 6 non-canonical amino acids and stop codon.|NCI|N|
C5239547|Epithelioid sarcoma that is not amenable to surgical resection.|NCI|N|
C5239549|The location of the chest pain is along the lateral edge of the sternum.|NCI|N|
C5239550|An innocent murmur with a medium or high pitched, blowing character with continuous flow with systolic accentuation heard over or above the breasts that disappears with compression of the breast tissue. (ACC-AHA)|NCI|N|
C5239552|A clinical description in which a patient does not demonstrate evidence of clinical findings to suggest underlying pathology. (ACC-AHA)|NCI|N|
C5239553|The location of the chest pain is along the right middle border of the sternum.|NCI|N|
C5239554|An indication that the chief complaint was not caused by a traumatic event.|NCI|N|
C5239557|A condition in which there is musculoskeletal chest pain associated with one or more ribs subluxing from the joint. (ACC-AHA)|NCI|N|
C5239558|An indication that the primary reason for a patient visit to a healthcare provider is other than those listed.|NCI|N|
C5239559|The patient''s response to treatment of Kawasaki disease. (ACC-AHA)|NCI|N|
C5239561|An indication that the patient has a unknown family history of cardiovascular disease or cardiovascular disease risk factors.|NCI|N|
C5239562|The sensation of chest pain described as an object creating physical force.|NCI|N|
C5239573|A fibrosarcoma that is not amenable to surgical resection.|NCI|N|
C5239574|Nodal peripheral T-cell lymphoma with TFH phenotype that is resistant to treatment.|NCI|N|
C5239576|Hepatocellular carcinoma that has spread to nearby tissues or lymph nodes.|NCI|N|
C5239577|A change in the amino acid residue at position 182 in the phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN protein where leucine has been replaced one or more non-canonical amino acids followed by a stop codon.|NCI|N|
C5239580|A change in the amino acid residue at position 337 in the cellular tumor antigen p53 protein where arginine has been replaced by histidine.|NCI|N|
C5239591|A gliosarcoma that is resistant to treatment.|NCI|N|
C5239594|An exceedingly rare endometrioid adenocarcinoma arising from the peritoneum.|NCI|N|
C5239595|Myelodysplastic syndrome, unclassifiable characterized by unilineage dysplasia and associated pancytopenia.|NCI|N|
C5240044|A type of second-degree atrioventricular block in which every other P wave is not conducted through the AV node such that only every other P wave is followed by a QRS complex.|HPO|N|
C5241299|A protrusion of an internal abdominal organ through a hole in an anatomical structure such as a muscle or a membrane. For instance, in paraduodenal hernia the SMALL INTESTINE herniates through an opening in the MESENTERIES. It includes intra-abdominal and diaphragmatic hernias. In abdominal hernia a protrusion occurs through a weak spot in the muscle of the ABDOMINAL WALL.|MSH|N|
C5241304|Measured density of MICROVESSELS in a given field of area. It is a surrogate BIOMARKER used for many physiological and pathophysiological processes such as angiogenesis, neovascularization, disease and tumor progressions.|MSH|N|
C5241442|Coffin-Siris syndrome-11 (CSS11) is a syndromic neurodevelopmental disorder characterized by global developmental delay and impaired intellectual development associated with hypotonia, feeding difficulties, and variable dysmorphic features. Most patients have distal anomalies, such as small hands and feet and hypoplastic fifth toenails (summary by Nixon et al., 2019).
For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (135900).|OMIM|N|
C5241444|Garfield and Karaplis (2001) reviewed the various causes and clinical forms of hypoparathyroidism. They noted that hypoparathyroidism is a clinical disorder characterized by hypocalcemia and hyperphosphatemia. It manifests when parathyroid hormone (PTH; 168450) secreted from the parathyroid glands is insufficient to maintain normal extracellular fluid calcium concentrations or, less commonly, when PTH is unable to function optimally in target tissues, despite adequate circulating levels.
Genetic Heterogeneity of Familial Isolated Hypoparathyroidism
FIH2 (618883) is caused by mutation in the GCM2 gene (603716). An X-linked form of familial hypoparathyroidism, HYPX (307700), is caused by interstitial deletion/insertion on chromosome Xq27.1, which may have a position effect on expression of SOX3 (313430).
Congenital absence of the parathyroid and thymus glands (III and IV pharyngeal pouch syndrome, or DiGeorge syndrome, 188400) is usually a sporadic condition (Taitz et al., 1966).|OMIM|N|
C5241445|There are 2 types of radioulnar synostosis: in type 1, there is a proximal, smooth fusion of 2 to 6 cm between the radius and ulna and the radial head is absent; in type 2, there is a fusion just distal to the proximal radial epiphysis in association with congenital dislocation of the radial head (Bauer and Jonsson, 1988). Both types result in a limitation of pronation and supination of the forearm, and in type 2 there is also a restriction of extension at the elbow. Dominant inheritance through several lines in several generations was demonstrated by a family reported by Davenport et al. (1924). Hansen and Andersen (1970) found a positive family history in 5 of 37 cases.
Radioulnar synostosis is a feature of certain chromosome abnormalities, notably the triple X-Y syndrome (XXXY). See pronation-supination of the forearm, impairment of (176800).
Radioulnar synostosis occurs in an autosomal dominant syndrome with amegakaryocytic thrombocytopenia; see RUSAT1, 605432.|OMIM|N|
C5243475|Emery-Dreifuss muscular dystrophy inherited in an X-linked recessive pattern and caused by mutations in the EMD gene, encoding emerin.|NCI|N|
C5243476|A cluster of symptoms that are risk factors for CARDIOVASCULAR DISEASES and TYPE 2 DIABETES MELLITUS. The major components not only include metabolic dysfunctions of METABOLIC SYNDROME but also HYPERTENSION, and ABDOMINAL OBESITY.|MSH|N|
C5243562|A breast carcinoma which is positive for expression of estrogen receptor (ER), progesterone receptor (PR), and human epidermal growth factor receptor 2 (HER2).|MONDO|N|
C5243581|A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of moderate to severe developmental delay/intellectual disability with absent or limited speech development, various behavioral problems (including autistic features, hyperactivity, or aggressiveness) and craniofacial anomalies such as long face, high and prominent forehead, bulbous nose with low-hanging columella, thin vermillion of the upper lip, palatal (cleft palate, high-arched palate, and bifid uvula) and dental (abnormal upper incisors) abnormalities, and micrognathia. Hypotonia and feeding difficulties are frequent. Other supportive findings may include skeletal anomalies with low bone density and abnormal brain imaging.|SNOMEDCT_US|N|
C5243764|A syndrome of cyclic vomiting associated with cannabis use. Fourteen diagnostic characteristics have been identified, and the frequency of major characteristics is as follows: history of regular cannabis for any duration of time (100%), cyclic nausea and vomiting (100%), resolution of symptoms after stopping cannabis (96.8%), compulsive hot baths with symptom relief (92.3%), male predominance (72.9%), abdominal pain (85.1%), and at least weekly cannabis use (97.4%). Supportive care with intravenous fluids, dopamine antagonists, topical capsaicin cream, and avoidance of narcotic medications has shown some benefit in the acute setting. Cannabis cessation appears to be the best treatment.|MONDO|N|
C5243927|The phenotype of acid sphingomyelinase deficiency (ASMD) occurs along a continuum. Individuals with the severe early-onset form, infantile neurovisceral ASMD, were historically diagnosed with Niemann-Pick disease type A (NPD-A). The later-onset, chronic visceral form of ASMD is also referred to as Niemann-Pick disease type B (NPD-B). A phenotype with intermediate severity is also known as chronic neurovisceral ASMD (NPD-A/B). The most common presenting symptom in NPD-A is hepatosplenomegaly, usually detectable by age three months; over time the liver and spleen become massive in size. Psychomotor development progresses no further than the 12-month level, after which neurologic deterioration is relentless. Failure to thrive typically becomes evident by the second year of life. A classic cherry-red spot of the macula of the retina, which may not be present in the first few months, is eventually present in all affected children. Interstitial lung disease caused by storage of sphingomyelin in pulmonary macrophages results in frequent respiratory infections and often respiratory failure. Most children succumb before the third year of life. NPD-B generally presents later than NPD-A, and the manifestations are less severe. NPD-B is characterized by progressive hepatosplenomegaly, gradual deterioration in liver and pulmonary function, osteopenia, and atherogenic lipid profile. No central nervous system (CNS) manifestations occur. Individuals with NPD-A/B have symptoms that are intermediate between NPD-A and NPD-B. The presentation in individuals with NPD-A/B varies greatly, although all are characterized by the presence of some CNS manifestations. Survival to adulthood can occur in individuals with NPD-B and NPD-A/B.|GeneReviews|N|
C5243948|Autoimmune interstitial lung, joint, and kidney disease is an autosomal dominant systemic autoimmune disorder characterized by interstitial lung disease, inflammatory arthritis, and immune complex-mediated renal disease. Laboratory studies show high-titer autoantibodies. Symptoms appear in the first 2 decades of life, but there is incomplete penetrance (summary by Watkin et al., 2015).|OMIM|N|
C5243996|Chronic passive congestion of the liver secondary to right heart failure. Elevation of central venous pressure leads to restriction of the hepatic circulation. Prolonged hepatic venous pressure may lead to liver fibrosis and cirrhosis.|NCI|N|
C5244016|The creatine deficiency disorders (CDDs), inborn errors of creatine metabolism and transport, comprise three disorders: the creatine biosynthesis disorders guanidinoacetate methyltransferase (GAMT) deficiency and L-arginine:glycine amidinotransferase (AGAT) deficiency; and creatine transporter (CRTR) deficiency. Developmental delay and cognitive dysfunction or intellectual disability and speech-language disorder are common to all three CDDs. Onset of clinical manifestations of GAMT deficiency (reported in ~130 individuals) is between ages three months and two years; in addition to developmental delays, the majority of individuals have epilepsy and develop a behavior disorder (e.g., hyperactivity, autism, or self-injurious behavior), and about 30% have movement disorder. AGAT deficiency has been reported in 16 individuals; none have had epilepsy or movement disorders. Clinical findings of CRTR deficiency in affected males (reported in ~130 individuals) in addition to developmental delays include epilepsy (variable seizure types and may be intractable) and behavior disorders (e.g., attention deficit and/or hyperactivity, autistic features, impulsivity, social anxiety), hypotonia, and (less commonly) a movement disorder. Poor weight gain with constipation and prolonged QTc on EKG have been reported. While mild-to-moderate intellectual disability is commonly observed up to age four years, the majority of adult males with CRTR deficiency have been reported to have severe intellectual disability. Females heterozygous for CRTR deficiency are typically either asymptomatic or have mild intellectual disability, although a more severe phenotype resembling the male phenotype has been reported.|GeneReviews|N|
C5389823|Septal or bridging fibrosis that results in the disruption of normal blood flow and liver function, and extends across hepatic lobules with significant porto-portal or porto-central bridging. Progression may lead to the formation of nodules that distort the liver architecture, which is termed cirrhosis.|NCI|N|
C5389835|An inherited metabolic disease that is has its basis in the disruption of glucose transport.|MONDO|N|
C5391440|New or worsening impairment in physical, cognitive, or mental health that occurs after treatment for a critical illness in an intensive care setting.|NCI|N|
C5391534|A rare syndrome temporally associated with COVID-19 in children, marked by persistent fever, inflammation (neutrophilia, elevated C-reactive protein (CRP), and lymphopenia), poor function in one or more organs, and other specific clinical and laboratory features not attributable to other infections. The characteristics of this syndrome appear to be similar to toxic shock syndrome and Kawasaki disease. The following variable signs and symptoms have been most commonly reported to date: coagulopathy, cardiac dysfunction, diarrhea, abdominal distension, other GI symptoms (with some children having positive stool tests for SARS-CoV-2), and acute kidney injury. Respiratory symptoms are not always a prominent feature in these cases.|NCI|N|
C5392056|A rare renal disease occurring in the setting of a systemic IgG4 (immunoglobulin G4) related disease. The disorder has characteristics of fibrosing tubulointerstitial nephritis consisting of predominantly IgG4 positive plasma cells with/without glomerulonephritis, mass lesions, enlarged kidneys and hydronephrosis. Other extra renal manifestations of IgG4 related disease may also be present (e.g. salivary glands, hepatobiliary system, lungs).|SNOMEDCT_US|N|
C5392066|Physical and psychological injuries resulting from SEXUAL VIOLENCE.|MSH|N|
C5392077|Cytopenia in one or more hematopoietic cell lineages that remains unexplained following thorough evaluation. The hematopoietic cell dysplasia is mild and does not fulfill the criteria for myelodysplastic syndrome, but the cytopenia may be severe. There is no evidence of clonal hematopoiesis or the variant allele frequency (VAF) is less that 2 percent. There is no other evidence of hematologic malignancy. It may progress to an overt myelodysplastic syndrome or other myeloid neoplasms such as acute myeloid leukemia, myeloproliferative neoplasm, or mast cell disorder.|NCI|N|
C5392078|Problematic, compulsive Internet use that results in significant impairment of person''s function in daily life.|MSH|N|
C5392092|Colonic neoplasms associated with chronic inflammation conditions such as ULCERATIVE COLITIS and CROHN DISEASE.|MSH|N|
C5392094|A rare genetic disorder caused by mutations in genes encoding proteins of the nuclear lamina.|MONDO|N|
C5392105|Diminished mental function after chemotherapy.|NCI|N|
C5392111|Plant diseases caused by PHYTOPLASMA bacteria.|MSH|N|
C5392112|Plant diseases affecting mostly leaves where either plant cells or tissues are dead and/or collapsed (necrosis) or yellowed due to loss of CHLOROPHYLL (chlorosis).|MSH|N|
C5392156|Viral infections that may be transmitted between non-human animals and HUMANS.|MSH|N|
C5392160|Diseases due to or propagated by body fluids from hosts whose BLOOD has been contaminated with pathogens.|MSH|N|
C5392202|Excessive antioxidants potentially related to immune system and nutrient absorption disturbances.|MSH|N|
C5392227|A protrusion of the SMALL INTESTINE through an opening in the MESENTERY.|MSH|N|
C5392234|Emery-Dreifuss muscular dystrophy associated with mutations on LAMINS (LMNA gene).|MSH|N|
C5392235|Compartment syndrome characterized by pain in muscle groups with elevated compartment pressures due most often exercise training in athletes. Most often encountered chronic exertional compartment syndrome is in the anterior or deep posterior compartments of the lower leg in athletes in training similar to POPLITEAL ARTERY ENTRAPMENT SYNDROME.|MSH|N|
C5392237|Level of and variations in social and emotional activity or behaviors.|MSH|N|
C5392254|A sequence of infection transmission from infectious agent leaving DISEASE RESERVOIR or host through a portal of exit, conveyed by some mode of transmission, and entering through a portal of entry to infect a susceptible host.|MSH|N|
C5392961|Individual or group aggressive behavior which is socially non-acceptable, turbulent, and often destructive. It is precipitated by frustrations, hostility, or prejudices, etc.|MSH|N|
C5393125|Silver-Russell Syndrome (SRS) is typically characterized by asymmetric gestational growth restriction resulting in affected individuals being born small for gestational age, with relative macrocephaly at birth (head circumference =1.5 SD above birth weight and/or length), prominent forehead usually with frontal bossing, and frequently body asymmetry. This is followed by postnatal growth failure, and in some cases progressive limb length discrepancy and feeding difficulties. Additional clinical features include triangular facies, fifth-finger clinodactyly, and micrognathia with narrow chin. Except for the limb length asymmetry, the growth failure is proportionate and head growth normal. The average adult height in untreated individuals is ~3.1±1.4 SD below the mean. The Netchine-Harbison Clinical Scoring System (NH-CSS) is a sensitive diagnostic scoring system. Clinical diagnosis can be established in an individual who meets at least four of the NH-CSS clinical criteria – prominent forehead/frontal bossing and relative macrocephaly at birth plus two additional findings – and in whom other disorders have been ruled out.|GeneReviews|N|
C5393299|DDX3X-related neurodevelopmental disorder (DDX3X-NDD) typically occurs in females and very rarely in males. All affected individuals reported to date have developmental delay / intellectual disability (ID) ranging from mild to severe; about 50% of affected girls remain nonverbal after age five years. Hypotonia, a common finding, can be associated with feeding difficulty in infancy. Behavioral issues can include autism spectrum disorder, attention-deficit/hyperactivity disorder and hyperactivity, self-injurious behavior, poor impulse control, and aggression. Other findings can include seizures, movement disorders (dyskinesia, spasticity, abnormal gait), vision and hearing impairment, congenital heart defects, respiratory difficulties, joint laxity, and scoliosis. Neuroblastoma has been observed in three individuals.|GeneReviews|N|
C5393302|Hackmann-Di Donato-type X-linked syndromic intellectual developmental disorder (MRXSHD) is an X-linked recessive phenotype characterized by global developmental delay with hypotonia, delayed speech, and mildly delayed walking associated with somatic marfanoid features, including tall stature, long fingers, and mildly dysmorphic facies. Some patients may have cardiac defects, such as mitral valve regurgitation, as well as other anomalies related to connective tissue defects, such as scoliosis (summary by Fiordaliso et al., 2019).|OMIM|N|
C5393303|Female-restricted Wieacker-Wolff syndrome (WRWFFR) is an X-linked dominant syndromic form of neurogenic arthrogryposis multiplex congenita (AMC) with central and peripheral nervous system involvement. Affected individuals have decreased fetal movements causing the development of contractures in utero and resulting in AMC and diffuse contractures involving the large and small joints apparent at birth. There is global developmental delay with difficulty walking or inability to walk, hypotonia that often evolves to spasticity, and variably impaired intellectual development with poor or absent speech and language. Dysmorphic facial features, including hypotonic facies, ptosis, microretrognathia, and small mouth, are seen in most patients. Seizures are uncommon; some patients have evidence of a peripheral motor neuropathy with distal muscle weakness. The level of X inactivation in lymphocytes and fibroblasts is often skewed, but may not predict the severity of the phenotype. Most cases occur sporadically; rare X-linked dominant inheritance has been reported in families (summary by Frints et al., 2019).|OMIM|N|
C5393308|X-linked holoprosencephaly-13 (HPE13) is a neurologic disorder characterized by midline developmental defects that mainly affect the brain and craniofacial structure. The severity and manifestations are variable: some patients may have full alobar HPE with cyclopia, whereas others have semilobar HPE or septooptic dysplasia. Dysmorphic features include microcephaly, hypotelorism, low-set ears, micrognathia, and cleft lip/palate. Patients with a more severe phenotype may die in the newborn period, whereas those with a less severe phenotype show global developmental delay. Additional variable features include congenital heart defects and vertebral anomalies. Phenotypic variability may be related to the type of mutation, X-inactivation status, and possible incomplete penetrance. The STAG2 protein is part of the multiprotein cohesin complex involved in chromatid cohesion during DNA replication and transcriptional regulation; HPE13 can thus be classified as a 'cohesinopathy' (summary by Kruszka et al., 2019).
For a discussion of genetic heterogeneity of holoprosencephaly, see HPE1 (236100).|OMIM|N|
C5393309|A benign form of holoprosencephaly with characteristics of midline defects without the typical holoprosencephaly defect in brain cleavage and which can variably manifest with microcephaly, hypotelorism, midline cleft lip and/or flat nose, choanal stenosis, pyriform sinus stenosis, coloboma as well as a single median maxillary incisor.|SNOMEDCT_US|N|
C5393312|Developmental and epileptic encephalopathy-85 with or without midline brain defects (DEE85) is an X-linked neurologic disorder characterized by onset of severe refractory seizures in the first year of life, global developmental delay with impaired intellectual development and poor or absent speech, and dysmorphic facial features. The seizures tend to show a cyclic pattern with clustering. Many patients have midline brain defects on brain imaging, including thin corpus callosum and/or variable forms of holoprosencephaly (HPE). The severity and clinical manifestations are variable. Almost all reported patients are females with de novo mutations predicted to result in a loss of function (LOF). However, some patients may show skewed X inactivation, and the pathogenic mechanism may be due to a dominant-negative effect. The SMC1A protein is part of the multiprotein cohesin complex involved in chromatid cohesion during DNA replication and transcriptional regulation; DEE85 can thus be classified as a 'cohesinopathy' (summary by Symonds et al., 2017 and Kruszka et al., 2019).
For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350.|OMIM|N|
C5393313|Congenital disorder of glycosylation type 2R (CDG2R) is an X-linked recessive disorder characterized by infantile onset of liver failure, recurrent infections due to hypogammaglobulinemia, and cutis laxa. Some patients may also have mild intellectual impairment and dysmorphic features. Laboratory studies showed defective glycosylation of serum transferrin in a type 2 pattern (summary by Rujano et al., 2017).
For an overview of congenital disorders of glycosylation, see CDG1A (212065) and CDG2A (212066).|OMIM|N|
C5393318|Warfarin is a widely prescribed anticoagulant for the prevention of thromboembolic diseases for subjects with deep vein thrombosis, atrial fibrillation, or mechanical heart valve replacement. The dose requirement is highly variable, both interindividually and interethnically (Yuan et al., 2005).|OMIM|N|
C5393570|Permanent neonatal diabetes mellitus (PNDM) is characterized by the onset of hyperglycemia within the first six months of life (mean age: 7 weeks; range: birth to 26 weeks). The diabetes mellitus is associated with partial or complete insulin deficiency. Clinical manifestations at the time of diagnosis include intrauterine growth retardation, hyperglycemia, glycosuria, osmotic polyuria, severe dehydration, and failure to thrive. Therapy with insulin corrects the hyperglycemia and results in dramatic catch-up growth. The course of PNDM varies by genotype.|GeneReviews|N|
C5393830|NESCAV syndrome (NESCAVS) is a neurodegenerative disorder characterized by onset of features in infancy or early childhood. Affected individuals show global developmental delay with delayed walking or difficulty walking due to progressive spasticity mainly affecting the lower limbs and often leading to loss of independent ambulation. There is variably impaired intellectual development, speech delay, and learning disabilities and/or behavioral abnormalities. Additional features may include cortical visual impairment, often associated with optic atrophy, axonal peripheral neuropathy, seizures, dysautonomia, ataxia, and dystonia. Brain imaging often shows progressive cerebellar atrophy and thin corpus callosum. Some patients may show developmental regression, particularly of motor skills. The phenotype and presentation are highly variable (summary by Nemani et al., 2020).|OMIM|N|
C5393908|Hao-Fountain syndrome (HAFOUS) is a neurodevelopmental disorder characterized by global developmental delay, variably impaired intellectual development with significant speech delay, behavioral abnormalities, such as autism, and mild dysmorphic facies. Additional features are variable, but may include hypotonia, feeding problems, delayed walking with unsteady gait, hypogonadism in males, and ocular anomalies, such as strabismus. Some patients develop seizures and some have mild white matter abnormalities on brain imaging (summary by Fountain et al., 2019).|OMIM|N|
C5394009|A rare leiomyoma that arises from the adrenal gland.|NCI|N|
C5394027|Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy (NEDESBA) is an autosomal recessive disorder characterized by severely impaired global development apparent soon after birth. Affected individuals develop seizures in the first year of life and achieve almost no psychomotor progress, resulting in feeding difficulties and an inability to walk or speak. Other features include hypotonia, peripheral spasticity with contractures, cortical visual impairment, and dysmorphic features, including microcephaly. Death in childhood may occur (summary by Van Bergen et al., 2020).
Van Bergen et al. (2020) noted that the molecular mechanism of this disorder can be classified into a group of similar phenotypes resulting from mutations in genes associated with transport protein particles, sometimes referred to as 'TRAPPopathies' (review by Sacher et al., 2019).|OMIM|N|
C5394033|Spastic paraplegia-81 (SPG81) is an autosomal recessive neurologic disorder with onset in infancy. Affected individuals have delayed motor development, progressive spasticity, and other neurologic impairment, including impaired intellectual development and speech delay. Some patients may have additional features, including bifid uvula, microcephaly, seizures, and variable ocular anomalies. One severely affected patient was reported to have cortical visual loss, sensorineural deafness, and achievement of almost no developmental milestones. Brain imaging shows white matter abnormalities, hypomyelination with progressive white matter loss, and sometimes cerebral atrophy. These significant additional abnormalities enable classification of this disorder as a complicated form of SPG (summary by Ahmed et al., 2017 and Horibata et al., 2018).
For a discussion of genetic heterogeneity of autosomal recessive spastic paraplegia, see SPG5A (270800).|OMIM|N|
C5394037|Autosomal recessive spastic paraplegia-82 (SPG82) is a progressive neurologic disorder characterized by global developmental delay apparent from infancy, significant motor impairment, and progressive spasticity mainly affecting the lower limbs. Some patients never achieve walking, whereas others lose the ability to walk or walk with an unsteady gait. Additional features include variably impaired intellectual development with language difficulties, ocular anomalies, such as nystagmus and visual impairment, and seizures. Brain imaging shows progressive cerebral and cerebellar atrophy, as well as white matter hyperintensities. Based on the additional abnormalities, the disorder can be classified as a type of complicated SPG (summary by Vaz et al., 2019).
For a discussion of genetic heterogeneity of autosomal recessive spastic paraplegia, see SPG5A (270800).|OMIM|N|
C5394039|Swelling of the chorionic villi owing to fluid accumulation.|HPO|N|
C5394044|Individuals with MN1 C-terminal truncation (MCTT) syndrome have mild-to-moderate intellectual disability, severe expressive language delay, dysmorphic facial features (midface hypoplasia, downslanting palpebral fissures, hypertelorism, exophthalmia, short upturned nose, and small low-set ears), and distinctive findings on brain imaging (including perisylvian polymicrogyria and atypical rhombencephalosynapsis). Mild-to-moderate prelingual hearing loss (usually bilateral, conductive, and/or sensorineural) is common. Generalized seizures (observed in the minority of individuals) are responsive to anti-seizure medication. There is an increased risk for craniosynostosis and, thus, increased intracranial pressure. To date, 25 individuals with MCTT syndrome have been identified.|GeneReviews|N|
C5394047|Extreme width of the skull in the occipital region, with anterior narrowing and prognathism.|HPO|N|
C5394059|DFNA75 is characterized by adult onset of moderate to severe, mid to high frequency hearing loss, progressing to involvement of all frequencies (Xia et al., 2019).|OMIM|N|
C5394062|Multiple types of congenital heart defects-7 (CHTD7) is an autosomal dominant disorder with incomplete penetrance characterized mainly by tetralogy of Fallot but also including right-sided aortic arch, absent pulmonary valve, and other cardiac abnormalities (Jin et al., 2017, Reuter et al., 2019).|OMIM|N|
C5394063|Primary ciliary dyskinesia-44 (CILD44) is an autosomal recessive disorder characterized by recurrent sinopulmonary infections resulting from defective mucociliary clearance. Affected individuals have onset of symptoms in infancy or early childhood, and the repetitive nature of the disorder results in bronchiectasis. Although respiratory epithelial cell motile cilia are shorter than normal and overall ciliary motion is decreased, nasal nitric oxide, radial ciliary structure, and ciliary beat frequency are normal. In addition, patients do not have situs inversus (summary by Chivukula et al., 2020).
For a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400).|OMIM|N|
C5394068|LQT16
Long QT syndrome-16 (LQT16) is characterized by a markedly prolonged corrected QT (QTc) interval and 2:1 atrioventricular (AV) block, with onset in the perinatal period. Patients experience bradycardia or ventricular tachyarrhythmias that may result in syncope, cardiac arrest, and/or sudden death (Reed et al., 2015; Wren et al., 2019).
Patients with LQT14 (616247), LQT15 (616249), or LQT16, resulting from mutation in calmodulin genes CALM1 (114180), CALM2 (114182), or CALM3, respectively, typically have a more severe phenotype, with earlier onset, profound QT prolongation, and a high predilection for cardiac arrest and sudden death, than patients with mutations in other genes (Boczek et al., 2016).
CPVT6
Catecholaminergic polymorphic ventricular tachycardia-6 (CPVT6) is characterized by childhood-onset syncopal episodes with exercise or stress. Electrocardiogram (ECG) shows a normal QT interval with a prominent U wave, and stress testing reveals premature ventricular contractions (PVCs) that may occur as bigeminy or couplets, and nonsustained ventricular tachycardia (Gomez-Hurtado et al., 2016).|OMIM|N|
C5394073|Imagawa-Matsumoto syndrome (IMMAS) is characterized by variable pre- and postnatal overgrowth; dysmorphic features including postnatal macrocephaly, prominent forehead, round face, hypertelorism, downslanting palpebral fissures, and low and broad nasal bridge; and variable musculoskeletal abnormalities. Developmental delay and impaired intellectual development are common, whereas abnormalities of cerebral imaging are uncommon but may be significant. Some patients exhibit genitourinary abnormalities, and respiratory issues have been reported (Cyrus et al., 2019).|OMIM|N|
C5394080|Autosomal dominant deafness-76 (DFNA76) is characterized by progressive or nonprogressive hearing loss with variable age at onset. Hearing loss is more severe at higher frequencies in most patients (Schrauwen et al., 2019; Morgan et al., 2019; Diaz-Horta et al., 2019).|OMIM|N|
C5394081|Developmental and epileptic encephalopathy-84 (DEE84) is an autosomal recessive neurologic disorder characterized by onset of refractory seizures in the first months or years of life. Affected individuals have severely impaired global development with impaired intellectual development, absent speech, and inability to walk. Other features include axial hypotonia, peripheral spasticity, feeding difficulties that sometimes necessitate tube feeding, and mild dysmorphic facial features. Brain imaging may show nonspecific findings such as cerebral/cerebellar atrophy and/or hypomyelination. The severity of the disorder is variable (summary by Hengel et al., 2020).
For a discussion of genetic heterogeneity of DEE, see 308350.|OMIM|N|
C5394083|DLG4-related synaptopathy is a condition that affects neurological development. This condition is characterized by delayed development and mild to moderate intellectual disabilities that typically becomes evident before age 2. Over time,  many individuals with DLG4-related synaptopathy lose skills that they have learned, such as speech or motor skills. About 20 percent of people with this condition cannot speak. Affected individuals often have neurodevelopmental disorders, such as autism spectrum disorder or attention-deficit/hyperactivity disorder. About half of individuals with this condition have recurrent seizures (epilepsy) that typically begin in childhood. Brain changes can also occur. These include brain tissue loss (atrophy) and abnormalities of the tissue connecting the left and right halves of the brain (corpus callosum) or the  hippocampus, which is a region of the brain that is involved in learning and memory.\n\nIndividuals with DLG4-related synaptopathy can also have weak muscle tone (hyptonia), loose joints (joint laxity), or a spine that curves to the side (scoliosis). Movement problems, including impaired muscle coordination (ataxia), involuntary muscle coordination (dystonia), or rhythmic shaking (tremor) are common in people with this condition. Other problems can include migraine, sleep problems, or anxiety. Some people with DLG4-related synaptopathy have a distinctive body type that includes a long face, slim body, and long fingers.\n\nLess commonly, DLG4-related synaptopathy can affect a person's vision. Affected individuals can have eyes that do not point in the same direction (strabismus), farsightedness (hyperopia), or involuntary movements of the eyes (nystagmus). Some affected individuals have blindness because the area of the brain responsible for processing vision is impaired. \n\nDLG4-related synaptopathy can also cause gastrointestinal difficulties that make it difficult to eat. These can include a backflow of stomach acids into the esophagus (gastroesophageal reflux disease or GERD).\n\n|MedlinePlus Genetics|N|
C5394091|Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation (NEDHRIT) is a severe autosomal recessive disorder characterized by neonatal respiratory distress, poor feeding, and impaired global development. Affected individuals are unable to walk or speak and have poor or absent eye contact. Some patients may develop seizures (summary by Wagner et al., 2020).|OMIM|N|
C5394097|Beck-Fahrner syndrome (BEFAHRS) is a developmental disorder characterized by global developmental delay with variably impaired intellectual development. Affected individuals often have behavioral abnormalities, such as autistic features or attention deficit-hyperactivity disorder (ADHD), as well as learning disabilities. Most patients have hypotonia and dysmorphic facies. Some may have growth abnormalities, including overgrowth or poor growth, poor feeding, and rarely, seizures. Although both monoallelic and biallelic mutations have been reported, some heterozygous carriers in autosomal recessive families may have milder symptoms; thus, both groups are included in this entry (summary by Beck et al., 2020).|OMIM|N|
C5394101|Autosomal recessive spinocerebellar ataxia-28 (SCAR28) is a neurologic disorder characterized by onset in early childhood of mildly delayed motor development, gait ataxia, incoordination of fine motor movements, and dysarthria. Affected individuals may have features of spasticity and may show mildly impaired cognitive function. Brain imaging shows cerebellar vermis hypoplasia (summary by Walker et al., 2019).|OMIM|N|
C5394104|Primary ciliary dyskinesia-45 (CILD45) is an autosomal recessive disorder characterized by recurrent sinopulmonary infections resulting from defective mucociliary clearance. Affected individuals have onset of symptoms in infancy or early childhood, and the repetitive nature of the disorder may result in bronchiectasis. Nasal nitric oxide may be decreased, but patients do not have situs abnormalities. Male patients have infertility due to immotile sperm (summary by Thomas et al., 2020).
For a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400).|OMIM|N|
C5394112|Congenital juvenile respiratory papillomatosis (JRRP) is an autosomal recessive disorder characterized by the development of recurrent growth of papillomas (warts) on respiratory epithelial cells in the upper airway, particularly the larynx. Patients present in early childhood with hoarse voice and, in severe cases, respiratory stridor due to airway obstruction. Affected individuals may also have mild dermatologic abnormalities similar to those observed in AIADK. While JRRP is a genetic disorder resulting from abnormal activation of the immune system, RRP in general is usually associated with acquired HPV infection, commonly with HPV types 6 and 11 (summary by Drutman et al., 2019).|OMIM|N|
C5394118|Sandestig-Stefanova syndrome (SANDSTEF) is an autosomal recessive developmental syndrome characterized by pre- and postnatal microcephaly, trigonocephaly, congenital cataract, microphthalmia, facial gestalt, camptodactyly, loss of periventricular white matter, thin corpus callosum, delayed myelinization, and poor prognosis (Sandestig et al., 2019).|OMIM|N|
C5394125|Triokinase and FMN cyclase deficiency syndrome (TKFCD) is a multisystem disease with marked clinical variability, even intrafamilially. In addition to cataract and developmental delay of variable severity, other features may include liver dysfunction, microcytic anemia, and cerebellar hypoplasia. Fatal cardiomyopathy with lactic acidosis has been observed (Wortmann et al., 2020).|OMIM|N|
C5394133|Infantile T-cell lymphopenia with or without nail dystrophy (TLIND) is an autosomal dominant disorder characterized by decreased numbers of T cells, particularly cytotoxic CD8+ T cells, usually apparent from infancy. Patients are often identified through newborn screening with the finding of low levels of T-cell receptor excision circles (TRECs). Affected individuals tend to be more susceptible to recurrent infections, mainly respiratory viral infections. However, the severity is highly variable, and patients usually improve with age later in childhood and as adults, even if CD8+ T cells remain decreased compared to normal. Additional features may include a small thymic shadow, indicative of impaired thymic development, skin abnormalities, such as atopic dermatitis, and nail dystrophy. As rare patients may develop more serious infections, affected individuals should be monitored. Bone marrow transplantation is not curative (summary by Bosticardo et al., 2019).|OMIM|N|
C5394134|Lipoprotein(a) is a macromolecular complex in human plasma which represents a quantitative genetic trait with a heritability of 0.7 or higher. Lipoprotein(a) is composed of an LDL-like particle in which apoB (107730) is covalently bound by a single disulfide bond to apolipoprotein(a). Apo(a) has been demonstrated to be the main determinant of the quantitative Lp(a) trait. Variation in the number of plasminogen (PLG)-like kringle (K) IV type 2 tandem repeats in the apo(a) gene is inversely correlated to Lp(a) plasma levels in all populations studied. Several polymorphisms in the Lp(a) gene have been found to affect the apo(a) concentration level (summary by Ogorelkova et al., 1999).|OMIM|N|
C5394135|Intellectual developmental disorder with poor growth and with or without seizures or ataxia (IDPOGSA) is an autosomal recessive neurologic disorder characterized by global developmental delay apparent from infancy, hypotonia, and poor overall growth, sometimes with borderline microcephaly. The phenotype is highly variable: some patients may show ataxia and some may have seizures (summary by Hu et al., 2019).|OMIM|N|
C5394137|Neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome (PHRINL) is an autosomal recessive multisystem disorder with onset in utero and death in the neonatal period. Rare patients may survive a few months. Affected infants show respiratory insufficiency and almost no spontaneous movement at birth, usually requiring mechanical ventilation and admission to the neonatal intensive care unit. Additional features include corneal clouding, seizures, dysmorphic facies, contractures, and progressive pontocerebellar hypoplasia with simplified gyral pattern and white matter abnormalities. Some patients may have cardiac anomalies or cardiac hypertrophy. Laboratory studies show evidence consistent with mitochondrial defects and/or abnormal cholesterol or lipid metabolism. Depending on the type of mutation or deletion, some patients may have a less severe disorder (see GENOTYPE/PHENOTYPE CORRELATIONS) (summary by Desai et al., 2017).|OMIM|N|
C5394140|Mitochondrial DNA depletion syndrome-18 (MTDPS18) is an autosomal recessive neuromuscular disorder characterized by early-onset progressive weakness and atrophy of the distal limb muscles, resulting in loss of ambulation as well as atrophy of the intrinsic hand muscles with clawed hands. Affected individuals may also develop scoliosis and have hypo- or hyperreflexia and decreased pulmonary vital capacity. Examination of skeletal muscle shows neurogenic atrophy and combined mitochondrial oxidative phosphorylation deficiency associated with mtDNA depletion. The clinical phenotype is reminiscent of spinal muscular atrophy (see SMA, 253300) and the metabolic profile is reminiscent of 2-aminoadipic 2-oxoadipic aciduria (AMOXAD; 204750), which is caused by mutation in the DHTKD1 gene (614984) (summary by Boczonadi et al., 2018).
For a discussion of genetic heterogeneity of autosomal recessive mtDNA depletion syndromes, see MTDPS1 (603041).|OMIM|N|
C5394150|Autosomal dominant chromosome 1p36.33 duplication syndrome is a severe multisystemic disorder characterized by neonatal respiratory insufficiency, hypotonia, and cardiomyopathy, resulting in death in the first weeks of life. Affected infants may also have seizures, contractures, and corneal opacities. Brain imaging shows variable anomalies, such as white matter changes, and laboratory studies suggest that the phenotype results from metabolic defects in mitochondrial and cholesterol homeostasis (summary by Gunning et al., 2020).|OMIM|N|
C5394158|Individuals with PPP1R12A-related urogenital and/or brain malformation syndrome (UBMS) usually present with multiple congenital anomalies, commonly including brain and/or urogenital malformations. The brain abnormalities are variable, with the most severe belonging to the holoprosencephaly spectrum and associated with moderate-to-profound intellectual disability, seizures, and feeding difficulties. In individuals without brain involvement, variable degrees of developmental delay and/or intellectual disability may be present, although normal intelligence has been seen in a minority of affected individuals. Eye abnormalities and skeletal issues (kyphoscoliosis, joint contractures) can also be present in individuals of either sex. Regardless of the presence of a brain malformation, affected individuals with a 46,XY chromosome complement may have a disorder of sex development (DSD) with gonadal abnormalities (dysgenetic gonads or streak gonads). Individuals with a 46,XX chromosome complement may have varying degrees of virilization (clitoral hypertrophy, posterior labial fusion, urogenital sinus).|GeneReviews|N|
C5394173|Rhizomelic limb shortening with dysmorphic features (RLSDF) is characterized by rhizomelic shortening of the extremities, predominantly of the upper limbs, and variable dysmorphic features, including macrocephaly, prominent forehead, hypertelorism, depressed or broad nasal bridge, and micrognathia. Hearing loss has also been observed (Sajan et al., 2019; Pagnamenta et al., 2023).|OMIM|N|
C5394189|Congenital myopathy-9A (CMYP9A) is an autosomal recessive early-onset severe muscular disorder resulting in early death. Affected individuals present at birth with neonatal hypotonia, poor feeding, fractures of the long bones, and respiratory insufficiency. Laboratory investigations are consistent with a defect in early muscle development (summary by Estan et al., 2019).
For a discussion of genetic heterogeneity of congenital myopathy, see CMYP1A (117000).|OMIM|N|
C5394193|Congenital myopathy-9B (CMYP9B) is an autosomal recessive early-onset skeletal muscle disorder mainly affecting proximal muscles. Affected individuals have neonatal hypotonia followed by mildly delayed walking in childhood. Muscle weakness is slowly progressive, resulting in positive Gowers sign and difficulty running or climbing, but most patients remain ambulatory. Some patients develop respiratory involvement requiring ventilatory support, whereas cardiac function is unaffected. Muscle biopsy shows type 1 fiber predominance with disorganized Z-lines and multiminicore myopathy (Estan et al., 2019).
For a discussion of genetic heterogeneity of congenital myopathy, see CMYP1A (117000).|OMIM|N|
C5394199|Autosomal recessive idiopathic basal ganglia calcification-8 (IBGC8) is a progressive neurologic disorder with insidious onset of motor symptoms in adulthood. Affected individuals develop gait difficulties, parkinsonism, pyramidal signs, and dysarthria. Some may demonstrate cognitive decline or memory impairment. Brain imaging shows extensive calcifications in various brain regions including the basal ganglia, thalamus, and cerebellum. Because serum calcium and phosphate are normal, the disorder is thought to result from defects in the integrity of the neurovascular unit in the brain (summary by Schottlaender et al., 2020).
For a phenotypic description and a discussion of genetic heterogeneity of IBGC, see IBGC1 (213600).|OMIM|N|
C5394208|Retinitis pigmentosa-88 (RP88) is characterized by night blindness and constriction of peripheral visual fields, with mildly reduced visual acuity. Examination shows typical findings of RP, including attenuated retinal vessels, pale optic discs, and pigment deposits in the peripheral retinal pigment epithelium (Zobor et al., 2018; Hu et al., 2019; Albarry et al., 2019).
For a discussion of genetic heterogeneity of RP, see 268000.|OMIM|N|
C5394215|Myopia-27 (MYP27) is characterized by early-onset high myopia with increased axial lengths. Fundus changes include optic nerve head crescent and tigroid appearance of the posterior retina (Ouyang et al., 2019).|OMIM|N|
C5394218|Nabais Sa-de Vries syndrome type 1 (NSDVS1) is characterized by global developmental delay apparent from infancy, variable behavioral abnormalities, microcephaly, and dysmorphic facial features, including round face, small palpebral fissures, highly arched eyebrows, and short nose. The severity is variable (summary by Nabais Sa et al., 2020).|OMIM|N|
C5394221|Nabais Sa-de Vries syndrome type 2 (NSDVS2) is characterized by global developmental delay apparent from birth and distinctive dysmorphic facial features. Most patients have additional anomalies, including congenital heart defects, sleep disturbances, hypotonia, and variable endocrine abnormalities, such as hypothyroidism (summary by Nabais Sa et al., 2020).|OMIM|N|
C5394228|Early-onset epilepsy-2 with or without developmental delay (EPEO2) is an autosomal dominant neurologic disorder characterized by the onset of generalized tonic-clonic seizures in the first days, months, or years of life. The severity is highly variable: some patients have normal psychomotor development and normal brain imaging, whereas others may show developmental delay associated with abnormalities on brain imaging (summary by Yu et al., 2019).
For a discussion of genetic heterogeneity of EPEO, see 617290.|OMIM|N|
C5394232|Combined oxidative phosphorylation deficiency-40 (COXPD40) is an autosomal recessive mitochondrial disorder with onset in utero or soon after birth. Affected individuals have severe hypertrophic cardiomyopathy, poor growth, and sensorineural hearing loss. Laboratory studies show evidence of mitochondrial dysfunction, such as lactic acidosis. Patient-derived tissues and cells show variably decreased activities of mitochondrial respiratory complexes I, III, IV, and V. The disorder is lethal, with no reported patients surviving past infancy (summary by Friederich et al., 2018).
For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060).|OMIM|N|
C5394237|Combined oxidative phosphorylation deficiency-42 (COXPD42) is an autosomal recessive metabolic disorder characterized by onset of cardiomyopathy, respiratory insufficiency, lactic metabolic acidosis, and anemia in the first months of life. Patient tissue shows variable impairment of mitochondrial oxidative phosphorylation affecting mtDNA-encoded subunits I, III, and IV. All reported affected infants have died in the first year of life (summary by Friederich et al., 2018).
For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060).|OMIM|N|
C5394241|Alopecia-intellectual disability syndrome-4 (APMR4) is characterized by alopecia universalis, scaly skin, and psychomotor retardation of varying degrees (Besnard et al., 2019).
For a discussion of genetic heterogeneity of alopecia-intellectual disability syndrome, see APMR1 (203650).|OMIM|N|
C5394246|Hypogonadotropic hypogonadism-25 with anosmia (HH25) is characterized by delayed or absent puberty with low gonadotropic hormones in the setting of low testosterone or estradiol. Affected individuals also exhibit hyposmia or anosmia, with hypoplastic olfactory bulbs on MRI. Intrafamilial variable expressivity and incomplete penetrance has been observed (Messina et al., 2020).
For a discussion of genetic heterogeneity of hypogonadotropic hypogonadism with or without anosmia, see 147950.|OMIM|N|
C5394250|Vertebral, cardiac, renal, and limb defects syndrome-3 (VCRL3) is an autosomal recessive disorder characterized by severe cardiac and renal anomalies that are lethal in infancy, including hypoplastic or absent left ventricle, transposition of the great arteries, absent pulmonary trunk, and hypoplastic or absent kidneys. Patients also exhibit vertebral segmentation defects and shortening of the proximal long bones or micromelia (Szot et al., 2020).
For a discussion of genetic heterogeneity of VCRL, see VCRL1 (617660).|OMIM|N|
C5394263|Diets-Jongmans syndrome (DIJOS) is an autosomal dominant disorder characterized by mild to moderately impaired intellectual development with a recognizable facial gestalt (summary by Diets et al., 2019).|OMIM|N|
C5394265|Immunodeficiency-66 (IMD66) is an autosomal recessive primary immune disorder caused by defective immune cell migration and chemotaxis resulting from defects in cytoskeletal actin dynamics. Neutrophils are primarily affected, although there may be defects in dendritic cells and T and B cells. The phenotype is characterized by onset of recurrent bacterial infections in infancy. Laboratory studies show normal levels of myeloid and lymphoid cells, but there may be mild thrombocytopenia (summary by Record et al., 2015).|OMIM|N|
C5394268|Autosomal recessive limb-girdle muscular dystrophy-26 (LGMDR26) is a muscle disorder characterized by adult-onset weakness that primarily affects the proximal muscles of the lower limbs. The disorder is slowly progressive, with later involvement of the upper limbs and fatty replacement of muscle tissue apparent on MRI. Some patients may have calf hypertrophy. Serum creatine kinase is significantly elevated, and skeletal muscle biopsy shows typical dystrophic features with normal ultrastructural findings. There is no cardiac or respiratory involvement (summary by Vissing et al., 2019).
For a discussion of genetic heterogeneity of autosomal recessive limb-girdle muscular dystrophy, see LGMDR1 (253600).|OMIM|N|
C5394277|Hypervalinemia and hyperleucine-isoleucinemia (HVLI) is a branched-chain amino acid metabolic disorder characterized by highly elevated plasma valine and leucine concentrations. The patient presented in adulthood with headache and mild memory impairment, and had abnormal symmetric white matter signals on brain MRI (Wang et al., 2015).|OMIM|N|
C5394286|Autoinflammation with episodic fever and lymphadenopathy (AIEFL) is an autosomal dominant immunologic disorder characterized by onset of recurrent episodes of unexplained fever beginning in early infancy. The episodes occur in a cyclic pattern with a frequency of every week or every few weeks and a duration of several days. Patients have accompanying lymphadenopathy, and some may have hepatosplenomegaly. Rash and genital ulcers are not observed. Patient serum shows increased levels of inflammatory cytokines and chemokines, including IL6 (147620) and TNF (191160), consistent with abnormal activation of the innate inflammatory system. Treatment with anti-IL6R (147880) antibodies may result in clinical improvement (summary by Lalaoui et al., 2020).|OMIM|N|
C5394289|Anauxetic dysplasia-3 (ANXD3) is characterized by severe short stature, brachydactyly, skin laxity, joint hypermobility, and joint dislocations. Radiographs show short metacarpals, broad middle phalanges, and metaphyseal irregularities. Most patients also exhibit motor and cognitive delays (Narayanan et al., 2019).
For a discussion of genetic heterogeneity of anauxetic dysplasia, see ANXD1 (607095).|OMIM|N|
C5394293|Combined oxidative phosphorylation deficiency-44 (COXPD44) is an autosomal recessive mitochondrial disorder with multisystemic manifestations. Most affected individuals present in infancy or early childhood with global developmental delay, hypotonia, and abnormal movements. Most patients develop seizures, often associated with status epilepticus, and some patients may have optic atrophy. One patient with hypertrophic cardiomyopathy has been reported. Serum lactate may be increased, although that finding is inconsistent. Detailed biochemical analysis shows variable combined deficiencies of mitochondrial oxidative complexes that appear to be tissue-specific (summary by Wei et al., 2020).
For discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060).|OMIM|N|
C5394296|Permanent neonatal diabetes mellitus-2 (PNDM2) is characterized by onset of insulin-requiring hyperglycemia within the first months of life that requires insulin therapy throughout life. Some patients additionally have marked developmental delay, muscle weakness, and epilepsy (Gloyn et al., 2004). The triad of developmental delay, epilepsy, and neonatal diabetes is known as DEND (Shimomura et al., 2007).
Proks et al. (2006) stated that heterozygous activating mutations in KCNJ11 are the most common cause of PNDM and account for 26 to 64% of cases, and that neurologic features are found in 20% of patients with KCNJ11 mutations.
For a discussion of genetic heterogeneity of permanent neonatal diabetes mellitus, see PNDM1 (606176).|OMIM|N|
C5394303|Permanent neonatal diabetes mellitus-3 (PNDM3) is characterized by the onset of mild to severe hyperglycemia within the first months of life, and requires lifelong therapy (summary by Babenko et al., 2006). Some patients also have neurologic features, including developmental delay and epilepsy (Proks et al., 2006; Babenko et al., 2006). The triad of developmental delay, epilepsy, and neonatal diabetes is known as DEND.
For a discussion of genetic heterogeneity of permanent neonatal diabetes mellitus, see PNDM1 (606176).|OMIM|N|
C5394307|Permanent neonatal diabetes mellitus-4 (PNDM4) is characterized by chronic hyperglycemia due to severe nonautoimmune insulin deficiency diagnosed in the first months of life (summary by Polak et al., 2008).
For a discussion of genetic heterogeneity of permanent neonatal diabetes mellitus, see PNDM1 (606176).|OMIM|N|
C5394311|Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities (NEDASB) is an early-onset neurologic disorder characterized by global developmental delay, poor or absent speech and language development, and behavioral abnormalities reminiscent of autism spectrum disorder (ASD; 209850) or Angelman syndrome (AS; 105830). Additional features may include poor overall growth with small head circumference, axial hypotonia, spasticity, and seizures. Some patients have abnormal findings on brain imaging, including cerebral atrophy, cerebellar atrophy, and/or thin corpus callosum (summary by Mattioli et al., 2020).|OMIM|N|
C5394312|Neurodevelopmental disorder with hypotonia, microcephaly, and seizures (NEDHYMS) is an autosomal recessive disorder characterized by global developmental delay with axial hypotonia, inability to sit or walk, and severely impaired intellectual development with absent language. Most patients develop early-onset intractable seizures that prevent normal development. Additional features include feeding difficulties with poor overall growth and microcephaly. Some patients may have spastic quadriplegia, poor eye contact due to cortical blindness, variable dysmorphic features, and nonspecific abnormalities on brain imaging (summary by Tan et al., 2020).|OMIM|N|
C5394315|Retinal dystrophy and leukodystrophy (RDLKD) is a peroxisomal enzyme deficiency caused by impaired very long chain fatty acid (VLCFA) metabolism. Patients exhibit ataxia and spastic paraparesis as well as developmental delay, and may show facial dysmorphism (Ferdinandusse et al., 2017).|OMIM|N|
C5394329|Hereditary essential tremor-6 (ETM6) is an autosomal dominant neurologic disorder characterized by adult-onset kinetic and/or postural tremor usually affecting the upper limbs. Some patients may have involvement of the head, trunk, lower limbs, and/or voice. Additional neurologic features, such as cognitive impairment or pyramidal signs, are usually not observed. Brain imaging does not show cerebellar atrophy or leukodystrophy. Skin biopsy shows intranuclear eosinophilic inclusions in fibroblasts and sweat gland cells, which may be used for diagnosis. There is evidence of genetic anticipation, with progressive earlier age at onset in younger generations. In rare cases, the phenotype may convert to NIID over time (summary by Sun et al., 2020; Ng et al., 2020).
For a phenotypic description and a discussion of genetic heterogeneity of hereditary essential tremor, see ETM1 (190300).|OMIM|N|
C5394335|Childhood-onset neurodegeneration with ataxia, tremor, optic atrophy, and cognitive decline (CONATOC) is an autosomal recessive progressive disorder with onset of symptoms in the first decade. Brain imaging may show variable features, including leukoencephalopathy and cerebellar atrophy (summary by Fagerberg et al., 2020).|OMIM|N|
C5394341|CSGALNACT1 deficiency is characterized by mild skeletal dysplasia, joint hypermobility, and advanced bone age. Shortness of long bones is evident prenatally, and patients exhibit short stature and relative macrocephaly. Advanced carpotarsal bone age and monkey-wrench appearance of the femur observed in infancy may disappear with age (Mizumoto et al., 2020).|OMIM|N|
C5394350|Nizon-Isidor syndrome (NIZIDS) is a neurodevelopmental disorder characterized by global developmental delay, mildly delayed walking, poor speech and language, variably impaired intellectual development, and behavioral abnormalities, such as autistic features or attention deficit-hyperactivity disorder (ADHD). Some patients may have additional features, including nonspecific facial dysmorphism, gastrointestinal difficulties, distal hand anomalies, and thin corpus callosum on brain imaging (summary by Nizon et al., 2019).|OMIM|N|
C5394354|Lissencephaly-10 (LIS10) is a neurologic disorder characterized by variably delayed development with mildly to moderately impaired intellectual development and language delay, as well as seizures, which are often intractable. There is a spectrum of severity, with some patients having normal early development and only borderline to mild cognitive impairment. Brain imaging shows features consistent with neuronal migration defects, including posterior-predominant lissencephaly, pachygyria, agyria, and subcortical band heterotopia (summary by Tsai et al., 2020).
For a general description and a discussion of genetic heterogeneity of lissencephaly, see LIS1 (607432).|OMIM|N|
C5394359|Early-onset seizures with neurodegeneration and brain calcifications (SENEBAC) is an autosomal recessive encephalopathy characterized by onset of refractory seizures in the first year of life. Affected individuals tend to have normal or mildly delayed development early in life, but show significant and progressive developmental regression associated with seizure onset. Features include hypotonia, peripheral spasticity, poor eye contact, and absent speech. Most require tube feeding; death in childhood may occur. Brain imaging shows cerebral atrophy, loss of white matter, and punctate calcifications, suggestive of abnormal neuroinflammation (summary by Smith et al., 2020 and Dong et al., 2020).|OMIM|N|
C5394362|Progressive myoclonic epilepsy-11 (EPM11) is a neurodegenerative disorder characterized by onset of developmental regression and various types of seizures around 2 years of age after relatively normal early development. The seizures are usually refractory to treatment and are associated with multiple abnormalities on EEG. During the first and second decades, affected individuals develop additional neurologic signs and symptoms, including pyramidal, extrapyramidal, and cerebellar signs such as spasticity, loss of independent ambulation, myoclonus, tremor, and ataxia. Cognitive impairment is severe, and patients can speak only a few words or are non-verbal (summary by Hamanaka et al., 2020).
For discussion of genetic heterogeneity of progressive myoclonic epilepsy, see EPM1A (254800).|OMIM|N|
C5394367|Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome (LEUDEN) is characterized by global developmental delay apparent in early childhood, followed by episodic neurologic regression or decompensation associated with systemic stress, such as febrile infection. Affected individuals have hypotonia, gait difficulties or ataxia, poor or absent speech with dysarthria, and variable motor abnormalities, including spasticity, dystonia, extrapyramidal signs, and tremor. Many patients have seizures. Brain imaging shows diffuse white matter abnormalities, poor myelination, thin corpus callosum, and generalized cerebral atrophy with enlarged ventricles. The clinical features of the disorder and the abnormal brain imaging findings are progressive (summary by Mao et al., 2020).|OMIM|N|
C5394371|Leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome (LEMSPAD) is characterized by a motor-predominant phenotype including motor developmental delay, speech articulation disorder, progressive spastic hemiplegia with hyperreflexia, and age-appropriate cognition (Mao et al., 2020).|OMIM|N|
C5394372|Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures (NEDHCAS) is an autosomal recessive neurodevelopmental disorder characterized by global developmental delay with variably impaired intellectual development, delayed motor skills, and poor or absent speech. Most patients develop early-onset seizures and demonstrate cerebellar ataxia or dysmetria associated with progressive cerebellar atrophy on brain imaging. The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis (summary by Nguyen et al., 2020).
For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (610293).|OMIM|N|
C5394374|Primary closed-angle glaucoma (GLCC) is characterized by age-related variation in the degree of iridocorneal angle closure and its sequelae, with patients in the first 3 decades of life showing a normal eye exam, whereas older patients progressively show more evidence of angle closure and glaucomatous damage, including optic nerve head changes and visual field defects (Suri et al., 2018).|OMIM|N|
C5394377|Galactosemia IV (GALAC4) is an inborn error of galactose metabolism that presents in the neonatal period. Of the 8 affected children that have thus far been reported, none had gastrointestinal symptoms or severe liver dysfunction. Two had bilateral cataracts. All had normal growth and development (summary by Wada et al., 2019).
For a discussion of genetic heterogeneity of galactosemia, see GALAC1 (230400).|OMIM|N|
C5394383|Patients with familial isolated hypoparathyroidism-2 (FIH2) usually present with seizures, caused by hypocalcemia, in early life. Serum parathyroid hormone (PTH; 168450) levels are low to undetectable. Hyperphosphatemia is present, and levels of 25-hydroxyvitamin D and 1,25-dihydroxyvitamin D may be within the normal range. Development can be normal if hypocalcemia is treated with calcium and vitamin D supplementation (Ding et al., 2001). Some patients have been found to lack parathyroid glands (Thomee et al., 2005).
For a discussion of genetic heterogeneity of familial isolated hypoparathyroidism, see FIH1 (146200).|OMIM|N|
C5394384|Chronic benign proteinuria (PROCHOB) is an autosomal recessive condition characterized by onset of isolated proteinuria in the first decade of life. The proteinuria is nonprogressive; affected individuals do not develop renal disease or impaired kidney function, and they do not have additional associated abnormalities, such as hypertension. The correct diagnosis is important to avoid inefficient or invasive intervention, such as medication or renal biopsy (summary by Bedin et al., 2020).|OMIM|N|
C5394387|Congenital disorder of glycosylation type IIt (CDG2t) is an autosomal recessive multisystemic metabolic disorder characterized by global developmental delay, poor overall growth, severely impaired intellectual development with absent language, and behavioral abnormalities. Most patients develop early-onset seizures; brain imaging tends to show white matter abnormalities. Variable dysmorphic features, including long face, almond-shaped eyes, protruding maxilla, and short philtrum, are also present. The disorder, which is associated with low levels of HDL cholesterol, results from defective posttranslational O-linked glycosylation of certain plasma lipids and proteins (summary by Zilmer et al., 2020).
For an overview of congenital disorders of glycosylation, see CDG1A (212065) and CDG2A (212066).|OMIM|N|
C5394391|Pseudo-TORCH syndrome-3 (PTORCH3) is an autosomal recessive disorder of immune dysregulation and neuroinflammation apparent from early infancy. Affected individuals have developmental delay with acute episodes of fever and multisystemic organ involvement, including coagulopathy, elevated liver enzymes, and proteinuria, often associated with thrombotic microangiopathy. Brain imaging shows progressive intracranial calcifications, white matter abnormalities, and sometimes cerebral or cerebellar atrophy. Laboratory studies show abnormal elevation of interferon (IFN)-stimulated gene (ISG) transcripts consistent with a type I interferonopathy. The phenotype resembles the sequelae of intrauterine infection, but there is usually no evidence of an infectious agent. The disorder results from defects in negative regulation of the interferon immunologic pathway. Death in early childhood is common (summary by Duncan et al., 2019 and Gruber et al., 2020).
For a discussion of genetic heterogeneity of PTORCH, see PTORCH1 (251290).|OMIM|N|
C5394393|Activation of the brain's innate immune system in response to an inflammatory challenge and is characterized by a host of cellular and molecular changes within the brain.|HPO|N|
C5394404|Liberfarb syndrome is a progressive disorder involving connective tissue, bone, retina, ear, and brain. Patients exhibit severe short stature and scoliosis with thoracic kyphosis and lumbar hyperlordosis. Severe joint laxity results in dislocations of elbows, hips, and knees. Eye findings are consistent with early-onset retinal degeneration, and there is moderate to severe early-onset hearing loss. Microcephaly is apparent by school age, and patients exhibit developmental delay and intellectual deficits (Peter et al., 2019). Clinical variability has been observed, with some patients presenting differences in the severity and location of skeletal dysplasia involvement as well as variation in other features of the syndrome (Girisha et al., 2019; Zhao et al., 2019).|OMIM|N|
C5394423|Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity (NEDBASS) is an autosomal recessive neurologic disorder characterized by global developmental delay apparent from early infancy, poor overall growth often with microcephaly, impaired intellectual development with delayed or absent speech, axial hypotonia, and peripheral spasticity. Additional common but variable features include early-onset seizures, optic atrophy with poor visual fixation, and dysmorphic facial features. Brain imaging shows cerebral atrophy, poor or absent myelination with loss of white matter volume, and often hypoplasia of the corpus callosum and/or cerebellum. Early death may occur (summary by Bend et al., 2020).|OMIM|N|
C5394425|Microcephaly, developmental delay, and brittle hair syndrome (MDBH) is a multisystem disorder with clinical variability. Affected individuals show cognitive and motor disabilities, as well as some degree of fine, brittle hair with microscopic shaft abnormalities. Other shared features include failure to thrive in early childhood and short stature, with some patients exhibiting feeding difficulties and hepatic steatosis (Kuo et al., 2019).|OMIM|N|
C5394441|SRXX5 is characterized by genital virilization in 46,XX individuals, associated with congenital heart disease and variable somatic anomalies including blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and congenital diaphragmatic hernia (Bashamboo et al., 2018).|OMIM|N|
C5394446|Silver-Russell Syndrome (SRS) is typically characterized by asymmetric gestational growth restriction resulting in affected individuals being born small for gestational age, with relative macrocephaly at birth (head circumference =1.5 SD above birth weight and/or length), prominent forehead usually with frontal bossing, and frequently body asymmetry. This is followed by postnatal growth failure, and in some cases progressive limb length discrepancy and feeding difficulties. Additional clinical features include triangular facies, fifth-finger clinodactyly, and micrognathia with narrow chin. Except for the limb length asymmetry, the growth failure is proportionate and head growth normal. The average adult height in untreated individuals is ~3.1±1.4 SD below the mean. The Netchine-Harbison Clinical Scoring System (NH-CSS) is a sensitive diagnostic scoring system. Clinical diagnosis can be established in an individual who meets at least four of the NH-CSS clinical criteria – prominent forehead/frontal bossing and relative macrocephaly at birth plus two additional findings – and in whom other disorders have been ruled out.|GeneReviews|N|
C5394447|Intellectual developmental disorder with autistic features and language delay, with or without seizures (IDDALDS), is a neurodevelopmental disorder characterized by global developmental delay, variable intellectual disability, impaired speech development, and behavioral abnormalities, most commonly on the autism spectrum. About half of patients develop seizures; brain imaging is typically normal. Additional features are highly variable, but may include chronic constipation, walking difficulties, and dysmorphic facial features (summary by Guo et al., 2019).|OMIM|N|
C5394450|Silver-Russell Syndrome (SRS) is typically characterized by asymmetric gestational growth restriction resulting in affected individuals being born small for gestational age, with relative macrocephaly at birth (head circumference =1.5 SD above birth weight and/or length), prominent forehead usually with frontal bossing, and frequently body asymmetry. This is followed by postnatal growth failure, and in some cases progressive limb length discrepancy and feeding difficulties. Additional clinical features include triangular facies, fifth-finger clinodactyly, and micrognathia with narrow chin. Except for the limb length asymmetry, the growth failure is proportionate and head growth normal. The average adult height in untreated individuals is ~3.1±1.4 SD below the mean. The Netchine-Harbison Clinical Scoring System (NH-CSS) is a sensitive diagnostic scoring system. Clinical diagnosis can be established in an individual who meets at least four of the NH-CSS clinical criteria – prominent forehead/frontal bossing and relative macrocephaly at birth plus two additional findings – and in whom other disorders have been ruled out.|GeneReviews|N|
C5394456|Silver-Russell Syndrome (SRS) is typically characterized by asymmetric gestational growth restriction resulting in affected individuals being born small for gestational age, with relative macrocephaly at birth (head circumference =1.5 SD above birth weight and/or length), prominent forehead usually with frontal bossing, and frequently body asymmetry. This is followed by postnatal growth failure, and in some cases progressive limb length discrepancy and feeding difficulties. Additional clinical features include triangular facies, fifth-finger clinodactyly, and micrognathia with narrow chin. Except for the limb length asymmetry, the growth failure is proportionate and head growth normal. The average adult height in untreated individuals is ~3.1±1.4 SD below the mean. The Netchine-Harbison Clinical Scoring System (NH-CSS) is a sensitive diagnostic scoring system. Clinical diagnosis can be established in an individual who meets at least four of the NH-CSS clinical criteria – prominent forehead/frontal bossing and relative macrocephaly at birth plus two additional findings – and in whom other disorders have been ruled out.|GeneReviews|N|
C5394462|Developmental and epileptic encephalopathy-86 (DEE86) is an X-linked neurologic syndrome characterized by severe and persistent seizures associated with EEG abnormalities beginning in the first few months of life, global developmental delay, severe motor deficits, dystonic movements, and dysmorphic facial features (Lentini et al., 2020).
For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350.|OMIM|N|
C5394466|Autosomal recessive distal hereditary motor neuronopathy-8 (HMNR8), or sorbitol dehydrogenase deficiency with peripheral neuropathy (SORDD), is characterized by onset of distal muscle weakness mainly affecting the lower limbs and resulting in difficulty walking. Onset of symptoms is usually in the first or second decades of life, although later adult onset has been reported; the disorder is slowly progressive. Nerve conduction velocities are most consistent with an axonal process. More variable features include distal sensory impairment, upper limb tremor, and scoliosis. Laboratory studies show increased serum sorbitol (summary by Cortese et al., 2020).
For a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive HMN, see HMNR1 (604320).|OMIM|N|
C5394473|Fanconi renotubular syndrome-5 (FRTS5) is a mitochondrial disorder characterized by proximal renotubular dysfunction from birth, followed by progressive kidney disease and pulmonary fibrosis. It occurs only in individuals of Acadian descent (Crocker et al., 1997 and Hartmannova et al., 2016).
For a discussion of genetic heterogeneity of Fanconi renotubular syndrome, see FRTS1 (134600).|OMIM|N|
C5394477|Neurodevelopmental, jaw, eye, and digital syndrome (NEDJED) is characterized by phenotypic diversity, with patients exhibiting a range of overlapping phenotypes. Most patients show developmental delay ranging from mild to severe, and often have behavioral disorders as well. Brain imaging shows hypoplasia of the corpus callosum, prominence of lateral ventricles, and/or white matter abnormalities. Many patients have retro- or micrognathia, but mild prognathism has also been observed. Ocular anomalies are variably present, and may be severe and complex; however, some patients show only mild myopia. Abnormalities of fingers and toes include brachydactyly, clinodactyly, syndactyly, and contractures; polydactyly is rarely seen (Holt et al., 2019).|OMIM|N|
C5394499|Autosomal dominant deafness-77 (DFNA77) is characterized by progressive hearing loss affecting high frequencies beginning in the second to third decades of life and affecting all frequencies by the fourth or fifth decades (Li et al., 2019).|OMIM|N|
C5394501|Developmental and epileptic encephalopathy-87 (DEE87) is a neurologic disorder characterized by global developmental delay, hypotonia, and onset of frequent refractory seizures or infantile spasms between 6 and 15 months of age. Affected individuals have severely impaired motor and cognitive development with little or absent speech and poor visual tracking. More variable features include facial dysmorphisms, joint laxity, and nonspecific brain imaging findings (summary by Chung et al., 2020).|OMIM|N|
C5394502|Neurodevelopmental disorder with speech impairment and behavioral abnormalities (NEDLIB) is characterized by impaired intellectual development or developmental delay, behavioral abnormalities including autistic features, and language impairment. Other features include seizures and developmental regression (Salpietro et al., 2019).|OMIM|N|
C5394503|Periventricular nodular heterotopia-9 (PVNH9) is an autosomal dominant neurologic disorder characterized as a malformation of cortical development. Anterior predominant PVNH, thin corpus callosum, and decreased white matter volume are found on brain imaging, but the clinical effects are variable. Most patients have impaired intellectual development and cognitive defects associated with low IQ (range 50 to 80), learning disabilities, and behavior abnormalities. Some patients develop seizures that tend to have a focal origin. However, some mutation carriers may be less severely affected with borderline or even normal IQ, suggesting incomplete penetrance of the phenotype (summary by Heinzen et al., 2018, Walters et al., 2018).
For a discussion of genetic heterogeneity of periventricular nodular heterotopia, see 300049.|OMIM|N|
C5394505|Arrhythmogenic right ventricular cardiomyopathy/dysplasia-14 (ARVD14) is characterized by palpitations, chest pain, and presyncope. Electrocardiography shows epsilon waves, T-wave inversion across anterior leads, premature ventricular contractions, ventricular tachycardia, and left bundle branch block. Dilation of the right ventricle with hypokinesia and aneurysmal changes are seen on echocardiography. Cardiac MRI may show fibrofatty infiltration, which has been confirmed by endocardial biopsy in some patients. Sudden death may occur (Mayosi et al., 2017).
For a discussion of genetic heterogeneity of ARVD, see ARVD1 (107970).|OMIM|N|
C5394517|Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities (NEDSHBA) is an autosomal recessive neurodevelopmental disorder characterized by global developmental delay, severe to profound intellectual impairment, early-onset refractory seizures, hypotonia, failure to thrive, and progressive microcephaly. Brain imaging shows cerebral atrophy, thin corpus callosum, and myelination defects. Death in childhood may occur (summary by Marafi et al., 2020).|OMIM|N|
C5394520|Episodic ataxia type 9 (EA9) is a neurologic disorder characterized by onset of ataxic episodes in the first years of life. Features may include difficulty walking, dizziness, slurred speech, headache, vomiting, and pain. The ataxic episodes vary in frequency and duration; most tend to occur every few weeks or months and last minutes to hours. Prior to the EA, most patients have neonatal- or infantile-onset tonic or generalized tonic-clonic (GTC) seizures that may be severe and refractory to medication, but remit later in infancy or early childhood, either spontaneously or concurrently with medication. Some patients have mildly delayed development with speech delay and/or autistic features or mildly impaired intellectual development. However, others show normal psychomotor development. Treatment of the ataxic episodes with acetazolamide is effective in about 50% of patients (summary by Schwarz et al., 2019).
For a phenotypic description and discussion of genetic heterogeneity of episodic ataxia, see EA1 (160120).|OMIM|N|
C5394523|Agenesis of corpus callosum, cardiac, ocular, and genital syndrome (ACOGS) is a syndromic neurodevelopmental disorder characterized by global developmental delay and/or intellectual disability, corpus callosum agenesis or hypoplasia, craniofacial dysmorphisms, and ocular, cardiac, and genital anomalies (Accogli et al., 2019).|OMIM|N|
C5394529|An abnormal parenchymal band connecting the medial margins of the left and right hypothalami across the third ventricle.|HPO|N|
C5394542|Chronic granulomatous disease (CGD) is a primary immunodeficiency disorder of phagocytes (neutrophils, monocytes, macrophages, and eosinophils) resulting from impaired killing of bacteria and fungi. CGD is characterized by severe recurrent bacterial and fungal infections and dysregulated inflammatory responses resulting in granuloma formation and other inflammatory disorders such as colitis. Infections typically involve the lung (pneumonia), lymph nodes (lymphadenitis), liver (abscess), bone (osteomyelitis), and skin (abscesses or cellulitis). Granulomas typically involve the genitourinary system (bladder) and gastrointestinal tract (often the pylorus initially, and later the esophagus, jejunum, ileum, cecum, rectum, and perirectal area). Some males with X-linked CGD have McLeod neuroacanthocytosis syndrome as the result of a contiguous gene deletion. While CGD may present anytime from infancy to late adulthood, the vast majority of affected individuals are diagnosed before age five years. Use of antimicrobial prophylaxis and therapy has greatly improved overall survival.|GeneReviews|N|
C5394546|Treacher Collins syndrome (TCS) is characterized by bilateral and symmetric downslanting palpebral fissures, malar hypoplasia, micrognathia, and external ear abnormalities. Hypoplasia of the zygomatic bones and mandible can cause significant feeding and respiratory difficulties. About 40%-50% of individuals have conductive hearing loss attributed most commonly to malformation of the ossicles and hypoplasia of the middle ear cavities. Inner ear structures tend to be normal. Other, less common abnormalities include cleft palate and unilateral or bilateral choanal stenosis or atresia. Typically intellect is normal.|GeneReviews|N|
C5394548|Oculopharyngodistal myopathy-2 (OPDM2) is an autosomal dominant muscle disorder characterized by onset of distal muscle weakness, mainly of the lower limbs, and/or ophthalmoplegia in the second or third decades of life. The disorder is slowly progressive, and patients develop facial weakness, bulbar weakness, and difficulty walking or climbing stairs. Some patients may have upper limb involvement and subclinical respiratory insufficiency. Laboratory studies show increased serum creatine kinase; skeletal muscle biopsy shows myopathic changes with abnormal cytoplasmic and intranuclear inclusions (summary by Deng et al., 2020).
For a discussion of genetic heterogeneity of OPDM, see OPDM1 (164310).|OMIM|N|
C5394550|Hyper-IgE syndrome-5 with recurrent infections (HEIS5) is an autosomal recessive immunologic disorder characterized by onset of recurrent sinopulmonary and deep skin infections in early childhood. The infections are mostly caused by bacteria, including H. influenza and Staphylococcus aureus. Additional features include atopic dermatitis, impaired inflammatory responses during infection, increased serum IgE, and increased IL6 (147620) (summary by Spencer et al., 2019).
For a discussion of genetic heterogeneity of hyper-IgE syndrome, see HIES1 (147060).|OMIM|N|
C5394551|Visceral heterotaxy-9 (HTX9) is an autosomal recessive disorder characterized by randomization of organ laterality, resulting in defects such as situs inversus and dextrocardia. Affected males are infertile mainly due to defective sperm motility, whereas affected females do not appear to have fertility problems. The disorder results from impaired function of the embryonic nodal cilia and sperm flagella. However, patients do not have classic respiratory symptoms of primary ciliary dyskinesia (see, e.g., CILD; 244400). The phenotype is highly variable; some affected individuals may be identified incidentally (summary by Ta-Shma et al., 2018 and Leslie et al., 2020).
For a discussion of the genetic heterogeneity of visceral heterotaxy, see HTX1 (306955).|OMIM|N|
C5394552|Retinitis pigmentosa-89 (RP89) is characterized by classic features of RP as well as features of ciliopathy, including postaxial polydactyly and renal and hepatic disease. Onset of symptoms is within the first decade of life (Cogne et al., 2020).
For a general phenotypic description and discussion of genetic heterogeneity of RP, see 268000.|OMIM|N|
C5394553|Developmental and epileptic encephalopathy-88 (DEE88) is an autosomal recessive severe neurologic disorder characterized by global developmental delay, early-onset epilepsy, and progressive microcephaly. Brain MRI findings may include corpus callosum abnormalities, prominent ventricles, and mild hypoplasia of the inferior vermis and pons (Broeks et al., 2019).
For a discussion of genetic heterogeneity of developmental and epileptic encephalopathy, see 308350.|OMIM|N|
C5394554|Mitchell syndrome (MITCH) is a progressive disorder characterized by episodic demyelination, sensorimotor polyneuropathy, and hearing loss (Chung et al., 2020).|OMIM|N|
C5394555|Spondylometaphyseal dysplasia with corneal dystrophy (SMDCD) is characterized by short stature due to short proximal and distal long bones. Affected individuals also exhibit narrow thorax with pulmonary hypoplasia and respiratory failure, as well as corneal dystrophy. Severe developmental delay has been observed (Ben-Salem et al., 2018).|OMIM|N|
C5394673|A rare secondary glomerular disease characterised by proteinuria, dysproteinaemia, nephrotic syndrome, and nodular glomerulopathy leading to renal failure, with or without extra-renal manifestations. The renal biopsy shows typical deposits of monoclonal immunoglobulins that do not show a fibrillar organisation and are negative for Congo red staining. Associated signs and symptoms depend on the involvement of other organs, liver, heart, nerve fibres, gastrointestinal tract or skin.|SNOMEDCT_US|N|
C5394674|A rare genetic mixed autoinflammatory and autoimmune syndrome with characteristics of chronic systemic autoinflammation (presenting as recurrent fever in the neonatal or infantile period) and combined immunodeficiency (manifesting as recurrent viral and invasive bacterial infections). Muscular amylopectinosis may be subclinical or be complicated by myopathy/cardiomyopathy.|SNOMEDCT_US|N|
C5394675|A rare autosomal trisomy with characteristics of reduced fetal movements and intrauterine growth retardation, low birth weight and multiple congenital anomalies. The latter include amongst others facial dysmorphism (hypertelorism, cleft lip/palate, micrognathia, low hairline, and small low-set and posteriorly rotated ears), head circumference below average, deformities of the hands (camptodactyly) and feet, marked hypertrichosis and anomalies of the brain, heart, and lungs. Lethality appears to depend on the degree of mosaicism.|SNOMEDCT_US|N|
C5394706|A rare developmental abnormality characterized by the presence of histologically mature tissue located in the epibulbar area.|NCI|N|
C5394785|Behavior within an intimate relationship that causes physical, sexual or psychological harm, including acts of physical aggression, sexual coercion, psychological abuse and controlling behaviors by both current and former spouses and partners.|SNOMEDCT_US|N|
C5394830|A sinonasal soft tissue neoplasm with hemangiopericytoma-like features.|NCI|N|
C5395080|An acute myeloid leukemia with monocytic and granulocytic differentiation and the presence of a characteristically abnormal eosinophil component in the bone marrow. This type of acute myeloid leukemia has a favorable prognosis. (WHO, 2001)|NCI|N|
C5395241|Potential for exposure to allergens and incurring inappropriate or dangerous immune system reactions in those individuals with an allergic disposition.|SNOMEDCT_US|N|
C5395542|Re-emergence of symptoms that were either absent or controlled while taking a medication.|SNOMEDCT_US|N|
C5395581|Higher fat intake compared to established reference standards or recommendations based on physiological needs.|SNOMEDCT_US|N|
C5395609|Never previously exposed to therapy or treatment.|SNOMEDCT_US|N|
C5396362|Syntelencephaly is a rare malformation that consists of an abnormal midline connection of the cerebral hemispheres in the posterior frontal and parietal regions, with interhemispheric separation of the basal forebrain, anterior frontal lobes, and occipital regions.|HPO|N|
C5396729|A rare bone disease characterized by benign, usually unilateral, sclerosis of the inferomedial third of the clavicle. Patients present with localized swelling and persistent pain. Typical radiographic findings are expansion of the medial end of the clavicle with increased radio-density and signs of bone remodeling.|ORDO|N|
C5396958|An eating disorder that is characterized by the pathological obsession with HEALTHY EATING.|MSH|N|
C5396999|A tear within the wall of any of the arteries of the neck (carotid artery or vertebral artery) and that allows blood to separate the wall layers. By separating a portion of the wall of the artery (a layer of the Tunica intima or tunica media), a dissection creates two lumens or passages within the vessel, the native or true lumen, and the "false lumen" created by the new space within the wall of the artery.|MONDO|N|
C5397098|A non-invasive papillary urothelial carcinoma characterized by minimal cytologic atypia and infrequent mitotic figures (usually limited to the lower half of the tumor). It usually occurs in the urinary bladder, but it can arise from other sites in the urinary tract. This type of carcinoma recurs frequently, may invade the urinary tract wall, and has a low risk of progression.|NCI|N|
C5397507|Vaccination hesitancy refers to delay in acceptance or refusal of vaccination despite availability of vaccination services. Vaccination hesitancy is complex and context specific varying across time, place and vaccines. It is influenced by factors such as complacency, convenience and confidence.|SNOMEDCT_US|N|
C5397509|Vaccination hesitancy refers to delay in acceptance or refusal of vaccination despite availability of vaccination services. Vaccination hesitancy is complex and context specific, varying across time, place and vaccines. It is influenced by factors such as complacency, convenience and confidence.|SNOMEDCT_US|N|
C5397581|An increased level of gamma globulin (immunoglobulin) in the blood.|HPO|N|
C5397582|Any structural anomaly of the sarcomere, which is unit of a myofibril in a muscle cell, composed of an array of overlapping thick and thin filaments between two adjacent Z disks.|HPO|N|
C5397583|Any structural anomaly of the Z disk, which is the platelike region of a muscle sarcomere to which the plus ends of actin filaments are attached.|HPO|N|
C5397584|Tubulointerstitial infiltration of bacteria identified on routine and/or special (Brown-Hopps) stains.|HPO|N|
C5397585|Tubulointerstitial infiltration of yeast or hyphal-microrganisms identified on routine and/or special (PAS, silver) stains.|HPO|N|
C5397586|A seizure precipitated by aspects of anticipating food, eating itself, or the post-prandial period.|HPO|N|
C5397587|A seizure precipitated by pouring cupfuls of very hot water (40 to 50 degrees Celsius) in rapid succession over the head. Bathing in this manner is the most common trigger.|HPO|N|
C5397588|A seizure precipitated by complex, cognition-guided tasks often involving visuomotor coordination and decision-making.|HPO|N|
C5397589|A seizure precipitated by movement or a change in posture.|HPO|N|
C5397590|A seizure precipitated by reading.|HPO|N|
C5397591|A somatosensory reflex seizure is a seizure precipitated by somatic stimulation of a specific part of the body in the absence of startle or surprise.|HPO|N|
C5397592|Startle-induced seizures are triggered by multiple and non-specific stimuli (auditory, somatosensory, and rarely visual) and are characterized by their sudden unexpected nature. Sudden noise rather than pure sound is the most effective acoustic stimulus.|HPO|N|
C5397593|Seizures induced by thinking and decision-making.|HPO|N|
C5397594|A type of focal motor seizure in which awareness is retained throughout the seizure.|HPO|N|
C5397595|A type of focal atonic seizure during which awareness is fully retained throughout.|HPO|N|
C5397596|A focal seizure characterized at onset by sudden loss or diminution of muscle tone without apparent preceding myoclonic or tonic activity, typically lasting more than 500 ms but less than 2 seconds. It may involve the head, trunk, jaw or limb musculature.|HPO|N|
C5397597|Lacunes are infarcts less than 15 mm in diameter in the cortical white matter or in the corona radiata, internal capsule, centrum semiovale, thalamus, basal ganglia, or pons.|HPO|N|
C5397598|An increase in death of oocytes, the female germ cell (egg cell), which can be observed clinically in the setting of in vitro fertilization.|HPO|N|
C5397599|A deviation from the normal level of a nucleobase in the urine. Nucleobases are nitrogen-containing biological compounds that form nucleosides|HPO|N|
C5397600|Increased levels of urinary cytidine, a pyrimidine nucleoside in which cytosine is attached to ribofuranose via a beta-N1 glycosidic bond.|HPO|N|
C5397601|Increased levels of urinary uridine, a ribonucleoside composed of a molecule of uracil attached to a ribofuranose moiety via a beta-N1 glycosidic bond.|HPO|N|
C5397602|A reduction in the concentration of 12-HETE in the blood circulation, a metabolite of arachidonic acid.|HPO|N|
C5397603|Intracellular accumulation of the lipid-linked oligosaccharide intermediate Man5GlcNAc2-PP-dolichol.|HPO|N|
C5397604|Presence of a predominant T cell clone. In PCR-based assays, this finding is inferred on the basis of one or two prominent bands within a valid size range. In NGS-based assays, this finding is inferred on the basis of a high number of reads that map to a single T cell receptor clone.|HPO|N|
C5397605|Abnormal structure of the bulbus cordis, which is the single outflow tract of the heart during early embryogenesis.|HPO|N|
C5397606|Any structural anomaly of the interstitium of the kidney. The renal interstitium is defined as the intertubular, extraglomerular, extravascular space of the kidney. It is bounded on all sides by tubular and vascular basement membranes and is filled with cells, extracellular matrix, and interstitial fluid.|HPO|N|
C5397607|Accumulation of foam cells (FC) in the interstitium of the kidney. Renal FCs display phenotypic characteristics of macrophages and belong to the monocyte/macrophage lineage. Histologically, renal FCs are characterized by round cells with small nuclei and an abundant PAS-positive cytoplasm with lipid-containing vacuoles.|HPO|N|
C5397609|Increased numbers of neutrophils in the interstitial tissues of the kidney.|HPO|N|
C5397610|Increased numbers of eosinophils in the interstitial tissues of the kidney.|HPO|N|
C5397611|Increased numbers of plasma cells in the interstitial tissues of the kidney.|HPO|N|
C5397612|Inability to perform purposeful (learned) movements with the hand upon command, even though the command is understood and there is a willingness to perform the movement. Hand apraxia includes the inability to grasp, pick up, and hold large and small objects.|HPO|N|
C5397613|Infiltration of the renal tubular epithelium by lymphocytes.|HPO|N|
C5397614|Infiltration of the renal tubular epithelium by neutrophils.|HPO|N|
C5397615|Deposition of hemosiderin (a golden-brown, granular pigment derived from ferritin) in interstitial cells of the kidney.|HPO|N|
C5397616|Naked basement membranes without tubular epithelium.|HPO|N|
C5397617|Tubular cross section with a space between the basolateral aspect of tubular epithelium and its basement membrane; classified as global when at least 2/3 circumference of the tubular cross section are involved and segmental when less than 2/3 are involved.|HPO|N|
C5397618|Tubular cross section with intracytoplasmic vacuoles in at least one tubular epithelial cell. This feature is classified as isometric when vacuoles are round and similar in size and coarse when vacuoles were not round in shape or varied in size.|HPO|N|
C5397619|At least one free floating cell in the tubular lumen without attachment to adjacent cells or basement membrane in a tubular cross section without detachment. These cells must not aggregate into a tubular shape and completely fill the lumen, if so, it should be classified as a cast.|HPO|N|
C5397620|Tubular cross section with round/irregular cytoplasmic protrusion, shaped like the Greek capital letter Omega (or it may be more vertically elongated Omega), pinched off from apical membrane without apparent closure of the lumen, involving over 50 percent of the tubular cells in cross section. The feature can be further classified into proximal or distal tubule.|HPO|N|
C5397621|Any structural anomaly of the renal tubular epithelial cells (RTEC), a layer of cells in the outer layer of the renal tubule. These cells play a role in the absorption of substances such as glucose and amino from the primary urine.|HPO|N|
C5397622|Tubular epithelium with round strongly PAS-positive cytoplasmic droplet material in at least one tubular epithelial cell.|HPO|N|
C5397623|Tubular epithelial cells with greater than 3 nuclei in a single epithelial cell, often overlapping with each other in a single plane of view.|HPO|N|
C5397624|Tubular epithelium with nucleoli clearly visible at 100-fold magnification.|HPO|N|
C5397625|Tubular cross section with flattened tubular cell cytoplasm (height unequivocally less than width), with complete loss of brush border involving greater than 50 percent of the tubular cells in cross section, resulting in an apparent increase in the size of the lumen, without the presence of casts.|HPO|N|
C5397626|Tubular epithelial cells in any mitotic phase, identified by distinctively visible chromosome in either prophase, metaphase, anaphase or telophase configuration.|HPO|N|
C5397627|At least one tubular epithelial cell with average sized cytoplasmic area and a nuclear area 3 times greater than average sized nuclei.|HPO|N|
C5397628|Presence of increased amount of lipofuscin, a yellow, granular cytoplasmic pigment in the renal tubules.|HPO|N|
C5397629|Tubular cross section lined entirely by tubular epithelium with convex apical cell membrane (i.e., cells are shaped like an upside down U, and lack a distinct smaller protrusion seen in blebbing as defined above) resulting in apparent complete closure of the lumen.|HPO|N|
C5397630|A type of renal tubular atrophy characterized by a thyroid-like appearance, with small round tubules with markedly flattened, simplified epithelium and uniform intratubular casts.|HPO|N|
C5397631|A type of renal tubular atrophy characterized by endocrine-like appearance of tubules, which are small and have narrow lumina, clear cells, and relatively thin basement membranes.|HPO|N|
C5397632|Renal tubulointerstitial infiltration of mycobacteria identified on acid-fast or Fite stains. Can be associated with granulomatous inflammation.|HPO|N|
C5397633|Tubular epithelial cells containing cytoplasmic hemosiderin, brown-golden granular pigment.|HPO|N|
C5397634|Deposition of amyloid in the interstitial tissue of the kidney. Amyloid is is made up of 10 nm (on average) fibrils that are most commonly composed of monoclonal light chains (AL), transthyretin (TTR), amd LECT2, or occur in the setting of long standing systemic inflammation.|HPO|N|
C5397635|Amyloid deposits located in the glomeruli in a focal segmental, diffuse segmental or diffuse global fashion. This abnormality can be accompanied by mesangial involvement and in later stages also involvement of the peripheral capillaries.|HPO|N|
C5397636|A diffusion abnormality observed in diffusion-weighted magnetic resonance imaging (MRI) of the brain. Molecular diffusion refers to the notion that any type of molecule in a fluid (eg, water) is randomly displaced as the molecule is agitated by thermal energy. Restricted diffusion of water appears bright on diffusion-weighted images.|HPO|N|
C5397637|Accumulation of an immunoglobulin in the interstitial tissue of the kidney. The immunoglobulin may be a monoclonal Ig or the corresponding heavy-chain (HC) or light-chain (LC) subunit. By convention this definition excludes Ig-derived amyloidosis (amyloidosis can be distinguished by its affinity for Congo red staining).|HPO|N|
C5397638|A focal collection of 20 or more red blood cells within the interstitium, that is irregular in shape (i.e., collections do not conform to the shape of tubules or capillary networks), without surrounding endothelium or tubular epithelium, and is in an area of intact core.|HPO|N|
C5397639|At least one tubular cross section with all tubular epithelial nuclei having a chromatin pattern resembling normal mature lymphocytes.|HPO|N|
C5397640|Dilatation (expansion beyond the normal dimension) of the cavity (lumen) of tubules of the kidney. The tubular cross section displays an attenuated brush border (apical PAS positivity greater than 10 percent of the normal expected height, but unequivocally less than normal expected height), resulting in an apparent increase in the size of lumen.|HPO|N|
C5397641|Urinary casts are formed in the distal convoluted tubule or the collecting duct by solidification of protein in the lumen of the kidney tubules. This term refers to casts located within the tubuli of the kidney. More precisely, casts are defined as a material that completely fills and expands the tubular lumen with simplification of surrounding tubular epithelium. Casts are classified as either nuclear debris/granular brown material, red blood cell, white blood cell, myeloma, or myoglobin cast.|HPO|N|
C5397642|A type of acelluar intratubular casts that have a surface composed of granules, which can vary in size. On H&E (red brown), PAS (amaranth purple), trichrome (red with ragged contours), Hall (olive-emerald green).|HPO|N|
C5397643|Casts that contain red blood cells and are located within the tubuli of the kidney.|HPO|N|
C5397644|Intratubular casts composed of vancomycin aggregates and uromodulin.|HPO|N|
C5397645|Casts that contain white blood cells and are located within the tubuli of the kidney.|HPO|N|
C5397647|Intratubular crystals composed of 2,8-dihydroxyadenine are small needle-shaped brownish crystals that are highly birefringent under polarized light and black by Jones methenamine silver.|HPO|N|
C5397648|The presence of casts containing immunoglobulin light chains within the lumina of the renal tubules.|HPO|N|
C5397649|A type of acelluar intratubular casts that have a surface composed of granules, which can vary in size. The granules can be rather heterogeneous, ranging from fine (finely granular cast) up to coarse (coarsely granular cast), dark, clear, and pigmented. On H&E (red granular), PAS (purple), trichrome (red granular), Hall (yellow brown). Stain positively for Hemoglobin A.|HPO|N|
C5397650|A type of acellular urinary cast located within the distal tubules of the kidney and that is composed only of Tamm-Horsfall glycoprotein. Correspondingly, these casts have a low refractive index. Hyaline casts may display a spectrum of morphologies, which includes fluffy, compact, convoluted or wrinkled casts. Hyaline casts have a smooth texture and usually have parallel sides with clear margins and blunted ends.|HPO|N|
C5397651|Casts located within the tubuli of the kidney and that contain myoglobin. Myoglobin casts are composed of round granules that may line up in chains or aggregate in clusters. Their color ranges from pink to red-brown with hematoxylin and eosin stain, light brown to black with Jones methenamine silver stain, pink to bright magenta with periodic acid-Schiff stain, and bright red with trichrome stain. Immunoperoxidase staining with antibody to myoglobin is stronglypositive in the casts.Electron microscopy shows globular casts with an electron-dense core and a somewhat less-intense periphery. Substructure is absent. This feature may be accompanied by acute tubular injury with variable flattening of tubular epithelial cells, loss of brush borders, and intratubular sloughed epithelial cells.|HPO|N|
C5397652|Infiltration of microorganisms into renal tubulointerstitial tissues as observed by appropriate staining procedures, e.g., bacteria on a bacterial stain (Brown and Hopps) or fungi on PAS or silver stain.|HPO|N|
C5397653|Infiltration of viruses into renal tubulointerstitial tissues as demonstrated on renal biopsy by viral inclusions which can be seen on routine stains or with immunohistochemistry.|HPO|N|
C5397654|Edema is characterized but the acute swelling of the stroma, with expansion of the interstitial space without the a concurrent increase in interstitial cells or extracellular matrix. Histologically this change is appreciated as interstitial areas of lower optical density.|HPO|N|
C5397655|An abnormally increased amount of mevanolate in the urine. Mevanolate is that hydroxy monocarboxylic acid anion that is the conjugate base of mevalonic acid.|HPO|N|
C5397656|An increased concentration of cystine within white blood cells.|HPO|N|
C5397657|An increased concentration of C-C motif chemokine ligand 18 in the blood circulation.|HPO|N|
C5397658|Interstital aggregates of histiciocytes, occasionally multinucleated with associated lymphoplasmacytic and occasionally eosinophilic inflammation. Organization can range from poorly-to-well defined and multinucleated giant cells may be present.|HPO|N|
C5397659|An organized collection of histiocytes (specifically macrophages) localized in the interstitial tissue of the kidney. Through light microscopy, the activated histiocytes appear as epithelioid cells with round to oval nuclei, often with irregular contours and abundant granular eosinophilic cytoplasm with indistinct cell borders. They may also coalesce to form multinucleated giant cells. Granulomas may be associated with a peripheral cuff of lymphoplasmacytic and occasionally eosinophilic inflammation. Organization can range from poorly-to-well defined. Granulomas can present as necrotizing or non-necrotizing. Microscopically, necrotizing granulomas distinctly have central necrosis with a palisaded lymphohistiocytic reaction and a cuff of chronic inflammation.|HPO|N|
C5397660|Interstital aggregates of histiciocytes, occasionally multinucleated with associated lymphoplasmacytic and occasionally eosinophilic inflammation. Organization can range from poorly-to-well defined and multinucleated giant cells may be present with no necrosis.|HPO|N|
C5397661|Abnormal accumulation of a metabolite, protein, or protein-derived substance in the interstitial region of the kidney.|HPO|N|
C5397662|Presence of interstitial mononuclear leukocytes, i.e., white blood ceclls with a single round nucleus, including lymphocytes and monocytes but not including granulocytes (which have multilobed nuclei).|HPO|N|
C5397663|Inflammation of interstitial tissues of the kidney consisting of foamy macrophages admixed with plasma cells, lymphocytes and neutrophils and occasional giant cells.|HPO|N|
C5397664|Increased apoptosis (programmed cell death) of tubular epithelial cells. The cells arre rounded with increased eosinophilia and contain fragmented, densely basophilic nuclear debris.|HPO|N|
C5397665|The presence of cuboidal to columnar epithelium (height greater than width) lining the Bowman capsule, in an absence of adjacent segmental sclerosis, crescents, or collapsing variant of focal segmental glomerulosclerosis; scored as present or absent in at least one glomerulus.|HPO|N|
C5397666|A type of flat-foot characterized by hindfoot abductovalgus, metatarsus adductus, and Achilles tendon shortening. The predominant radiographic findings include forefoot adduction with lateral subluxation of the navicular on the talus and heel valgus. Very abnormal shoe wear is noted on the medial side. Calluses occur under the metatarsal heads and the head of the plantar-flexed talus.|HPO|N|
C5397667|Increased concentration of glial fibrillary acidic protein in cerebrospinal fluid.|HPO|N|
C5397668|Increased concentration of chitinase-3-like protein 1 in cerebrospinal fluid.|HPO|N|
C5397669|Increased concentration of chitotriosidase 1 in cerebrospinal fluid.|HPO|N|
C5397670|An abnormal increase in the molar ratio of lactate to pyruvate in the blood circulation.|HPO|N|
C5397671|Flow-mediated dilatation is a noninvasive tests of endothelial function that leverages ultrasound to measure arterial diameter and its response to an increase in shear stress, which normally causes endothelium-dependent dilatation. This term pertains to an abnormal reduction in the magnitude of dilatation. Flow-mediated dilatation is usually measured at the brachial artery.|HPO|N|
C5397672|A reduced concentration of tocopherol in fat tissue.|HPO|N|
C5397673|A seizure lasting 30 minutes without fully regaining consciousness, provoked by fever (temperature greater than 38.0 degrees Celcius) at the time of seizure-onset, without a prior history of afebrile seizure and with no evidence of an acute central nervous system infection or insult.|HPO|N|
C5397674|An abnormal increase in the level of globotriaosylsphingosine (Lyso-Gb3) in the blood circulation.|HPO|N|
C5397675|Status epilepticus with prominent motor signs during the prolonged seizure.|HPO|N|
C5397676|A type of status epilepticus without prominent motor symptoms and in the presence of coma.|HPO|N|
C5397677|A type of bilateral convulsive seizure of focal onset (which could be with awareness or impaired awareness, either motor or non- motor) that is sufficiently prolonged (or repeated without recovery) to reach the threshold for status epilepticus.|HPO|N|
C5397678|A type of focal motor status epilepticus characterized by continuous neck or body rotation and conjugate gaze deviation in a direction contralateral to the responsible epileptic focus. This includes some forms of tonic status epilepticus.|HPO|N|
C5397679|A type of focal motor status epilepticus characterized by repeated motor, typically clonic events repeatedly affecting the same segments of the body with spread of clonic movements through contiguous body parts unilaterally, and repeating over a sufficiently prolonged period to reach a diagnosis of status epilepticus.|HPO|N|
C5397680|Status epilepticus characterized by continuous hyperkinetic proximal limb or axial muscles producing irregular sequential ballistic movements such as pedaling pelvic thrusting, thrashing, or rocking movements.|HPO|N|
C5397681|A type of motor status epilepticus with repeating bilateral sudden brief (less than 100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography.|HPO|N|
C5397682|A type of myoclonic status epilepticus in the absence of coma.|HPO|N|
C5397683|A type of myoclonic status epilepticus in the presence of coma.|HPO|N|
C5397684|A type of status epilepticus without prominent motor symptoms in the absence of coma.|HPO|N|
C5397685|Autonomic status epilepticus is a type of non-convulsive status epilepticus without coma with prominent autonomic features regardless of whether it is electrographically generalized or focal.|HPO|N|
C5397686|Focal non-convulsive status epilepticus without coma is a type of status epilepticus without prominent motor signs, which is electrographically focal. It is a prolonged focal non-motor seizure.|HPO|N|
C5397687|A cutaneous wound that is proceeding through an orderly and timely reparative process that results in sustained restoration of the anatomic and functional integrity of the skin.|HPO|N|
C5397688|A cutaneous wound that has failed to proceed through the orderly and timely process to produce an atomic and functional integrity, or proceeded through the repair process without establishing a sustained anatomic and functional result.|HPO|N|
C5397689|An eyelid myoclonia seizure is a type of generalized myoclonic seizure which may or may not be associated with loss of awareness.|HPO|N|
C5397690|A type of focal-onset seizure characterized by non-motor signs or symptoms (or behavior arrest) as its initial semiological manifestation.|HPO|N|
C5397691|A focal aware cognitive seizure during which awareness is retained throughout the seizure.|HPO|N|
C5397692|A focal non-motor seizure in which awareness is retained throughout the seizure.|HPO|N|
C5397694|A focal cognitive seizure with auditory agnosia characterized by retained awareness throughout the seizure.|HPO|N|
C5397695|A focal cognitive seizure characterized by auditory agnosia as the initial semiological manifestation. For example a person may hear a ringing sound, but may not connect this with the concept that the sound is from a telephone ringing.|HPO|N|
C5397696|A focal cognitive seizure with memory impairment characterized by retained awareness throughout the seizure.|HPO|N|
C5397697|A focal cognitive seizure characterized by transient memory impairment as the initial semiological manifestation whilst other cognitive functions and awareness are preserved at seizure onset. The memory impairment may be an inability to recall events occurring prior to the seizure (retrograde amnesia), or failure to encode new memories for events occurring during the seizure (anterograde amnesia).|HPO|N|
C5397698|A focal cognitive seizure with dissociation characterized by retained awareness throughout the seizure.|HPO|N|
C5397699|A focal cognitive seizure characterized by an experience of being disconnected from, though aware of, self or environment as the initial semiological manifestation.|HPO|N|
C5397700|A focal cognitive seizure with dyscalculia and or acalculia characterized by retained awareness throughout the seizure.|HPO|N|
C5397701|A focal cognitive seizure characterized by dyscalculia / acalculia as the initial semiological manifestation.|HPO|N|
C5397702|A focal cognitive seizure characterized by forced thinking as the initial semiological manifestation.|HPO|N|
C5397703|A focal cognitive seizure characterized by neglect as the initial semiological manifestation.|HPO|N|
C5397704|A focal cognitive seizure characterized by dyslexia / alexia as the initial semiological manifestation.|HPO|N|
C5397706|A focal cognitive seizure characterized by receptive dysphasia / aphasia as the initial semiological manifestation.|HPO|N|
C5397708|A focal cognitive seizure characterized by conduction dysphasia / aphasia as the initial semiological manifestation.|HPO|N|
C5397709|A focal cognitive seizure characterized by dysgraphia / agraphia as the initial semiological manifestation.|HPO|N|
C5397710|A focal cognitive seizure characterized by left-right confusion as the initial semiological manifestation.|HPO|N|
C5397711|A focal cognitive seizure characterized by anomia as the initial semiological manifestation.|HPO|N|
C5397712|A focal cognitive seizure characterized by expressive dysphasia / aphasia as the initial semiological manifestation.|HPO|N|
C5397714|A focal cognitive seizure with illusion characterized by retained awareness throughout the seizure.|HPO|N|
C5397715|A focal cognitive seizure with forced thinking characterized by retained awareness throughout the seizure.|HPO|N|
C5397716|A focal cognitive seizure with left-right confusion characterized by retained awareness throughout the seizure.|HPO|N|
C5397717|A focal cognitive seizure with dyslexia / alexia characterized by retained awareness throughout the seizure.|HPO|N|
C5397718|A focal cognitive seizure with anomia characterized by retained awareness throughout the seizure.|HPO|N|
C5397719|A focal cognitive seizure with dysgraphia / agraphia characterized by retained awareness throughout the seizure.|HPO|N|
C5397720|A focal cognitive seizure with receptive dysphasia / aphasia characterized by retained awareness throughout the seizure.|HPO|N|
C5397721|A type of focal clonic seizure during which awareness is fully retained throughout.|HPO|N|
C5397722|A type of focal motor seizure in which awareness is partially or fully impaired at some point during the seizure.|HPO|N|
C5397723|A focal motor seizure with version characterized by impaired awareness at some point during the seizure.|HPO|N|
C5397724|A focal bilateral motor seizure characterized by impairment of awareness at some point during the seizure.|HPO|N|
C5397725|A type of focal motor seizure (it commences in one hemisphere) involving bilateral muscle groups rapidly at seizure onset.|HPO|N|
C5397726|A focal non-motor seizure characterized by impaired awareness at some point during the seizure.|HPO|N|
C5397727|A focal motor seizure with dystonia characterized by impaired awareness at some point during the seizure.|HPO|N|
C5397728|A focal motor seizure in which the initial semiological manifestation is the sustained contraction of both agonist and antagonist muscles producing athetoid or twisting movements, which produces abnormal postures.|HPO|N|
C5397729|A focal motor seizure with dysarthria / anarthria characterized by impaired awareness at some point during the seizure.|HPO|N|
C5397730|A type of focal motor seizure characterized by difficulty with articulation of speech, due to impaired coordination of muscles involved in speech sound production as the initial semiological manifestation. Receptive and expressive language functions are intact, however speech is poorly articulated and is less intelligible.|HPO|N|
C5397731|A focal motor seizure characterized by weakness or complete paralysis of a muscle or group of muscles as the initial semiological manifestation.|HPO|N|
C5397732|A type of focal tonic seizure during which awareness is fully retained throughout.|HPO|N|
C5397733|A focal motor seizure with dystonia characterized by retained awareness throughout the seizure.|HPO|N|
C5397734|A focal tonic seizure in which awareness is partially or fully impaired at some point during the seizure.|HPO|N|
C5397735|A type of focal clonic seizure during which awareness is partially or fully impaired at some point in the seizure.|HPO|N|
C5397736|A focal hyperkinetic seizure in which awareness is partially or fully impaired at some point during the seizure.|HPO|N|
C5397737|Focal emotional seizure with agitation is characterized by the presence of psychomotor agitation as an expressed or observed emotion, at the outset of the seizure. Because of the unpleasant nature of these seizures, patients may also have anticipatory anxiety about having seizures.|HPO|N|
C5397738|A focal atonic seizure in which awareness is partially or fully impaired at some point during the seizure.|HPO|N|
C5397739|Focal emotional seizure with pleasure is characterized by the presence of a positive emotional experience with pleasure, bliss, joy, enhanced personal well-being, heightened self-awareness or ecstasy.|HPO|N|
C5397740|A focal myoclonic seizure in which awareness is partially or fully impaired at some point during the seizure.|HPO|N|
C5397741|A type of focal hypermotor seizure during which awareness is fully retained throughout.|HPO|N|
C5397742|A focal motor seizure with paresis / paralysis characterized by retained awareness throughout the seizure.|HPO|N|
C5397743|A focal motor seizure with dysarthria / anarthria characterized by retained awareness throughout the seizure.|HPO|N|
C5397744|A focal emotional seizure during which awareness is retained throughout the seizure.|HPO|N|
C5397745|Focal emotional seizure with anger in which awareness is retained throughout.|HPO|N|
C5397746|Focal emotional seizure with anger is characterized by the presence of anger, as an expressed or observed emotion, at the outset of the seizure. It may be accompanied by aggressive behavior.|HPO|N|
C5397747|Focal emotional seizure with paranoia is characterized by the presence of paranoia as an expressed or observed emotion at the outset of the seizure.|HPO|N|
C5397748|Focal emotional seizure with anxiety, fear or panic as an expressed or observed emotion at the outset of the seizure, in which awareness is retained throughout.|HPO|N|
C5397749|Focal emotional seizure with anxiety is characterized by the presence of anxiety, fear or panic as an expressed or observed emotion, at the outset of the seizure. Because of the unpleasant nature of these seizures, patients may also have anticipatory anxiety about having seizures.|HPO|N|
C5397750|A focal aware autonomic seizure has an initial manifestation pertaining to autonomic nervous system function, which may be objective (for example, pupillary dilation) or subjective (for example, nausea). As a type of focal aware seizure, awareness is retained throughout.|HPO|N|
C5397751|Focal emotional seizure with paranoia in which awareness is retained throughout.|HPO|N|
C5397752|Focal emotional seizure with pleasure in which awareness is retained throughout.|HPO|N|
C5397753|Focal emotional seizure with crying (dacrystic)in which awareness is retained throughout.|HPO|N|
C5397754|Focal emotional seizure with agitation in which awareness is retained throughout.|HPO|N|
C5397755|Focal emotional seizure with laughing in which awareness is retained throughout.|HPO|N|
C5397756|A focal emotional seizure in which awareness is partially or fully impaired at some point during the seizure.|HPO|N|
C5397757|Focal emotional seizure with pleasure in which awareness is partially or fully impaired at some point during the seizure.|HPO|N|
C5397758|Focal emotional seizure with anger in which awareness is partially or fully impaired at some point during the seizure.|HPO|N|
C5397759|Focal emotional seizure with paranoia in which awareness is partially or fully impaired at some point during the seizure.|HPO|N|
C5397760|Focal emotional seizure with laughing in which awareness is partially or fully impaired at some point during the seizure.|HPO|N|
C5397761|Focal emotional seizure with crying in which awareness is partially or fully impaired at some point during the seizure.|HPO|N|
C5397762|Focal emotional seizure with anxiety, fear or panic as an expressed or observed emotion at the outset of the seizure, in which awareness is partially or fully impaired at some point during the seizure.|HPO|N|
C5397763|A focal emotional seizure with agitation in which awareness is partially or fully impaired at some point during the seizure.|HPO|N|
C5397764|A focal sensory seizure during which awareness is retained throughout the seizure.|HPO|N|
C5397765|A focal autonomic seizure characterized by impaired awareness at some point within the seizure.|HPO|N|
C5397766|A focal cognitive seizure in which awareness is partially or fully impaired at some point during the seizure.|HPO|N|
C5397767|A focal hemiclonic seizure in which awareness is retained throughout.|HPO|N|
C5397768|A type of focal myoclonic seizure during which awareness is fully retained throughout.|HPO|N|
C5397769|A seizure characterized by symptoms of dizziness, spinning, vertigo or sense of rotation as its first clinical manifestation.|HPO|N|
C5397770|A seizure characterized by sensations of feeling hot or cold as its first clinical manifestation.|HPO|N|
C5397771|A focal autonomic seizure with pallor / flushing characterized by retained awareness throughout the seizure.|HPO|N|
C5397772|A type of focal autonomic seizure characterized by changes of the skin as the initial semiological feature.|HPO|N|
C5397773|A type of focal autonomic seizure characterized by pupillary dilatation or contraction as the initial semiological feature.|HPO|N|
C5397774|A type of focal autonomic seizure characterized by penile erection as the initial semiological feature.|HPO|N|
C5397775|A type of focal autonomic seizure characterized by an urge to unripe or defecate as the initial semiological feature.|HPO|N|
C5397776|A type of focal autonomic seizure characterized by changes in respiratory rate as the initial semiological feature.|HPO|N|
C5397777|A type of focal autonomic seizure characterized by piloerection (bristling of hairs due to the involuntary contraction of small muscles at the base of hair follicles) as the initial semiological feature.|HPO|N|
C5397778|A focal autonomic seizure with pupillary dilation / constriction characterized by retained awareness throughout the seizure.|HPO|N|
C5397779|An autonomic seizure with hypoventilation / hyperventilation / altered respiration characterized by retained awareness throughout the seizure.|HPO|N|
C5397780|A focal autonomic seizure with erection characterized by retained awareness throughout the seizure.|HPO|N|
C5397781|A type of focal autonomic seizure characterized by lacrimation as the initial semiological feature.|HPO|N|
C5397782|A Focal autonomic seizure with piloerection (bristling of hairs due to the involuntary contraction of small muscles at the base of hair follicles) characterized by impaired awareness at some point during the seizure.|HPO|N|
C5397783|A type of focal autonomic seizure characterized by changes in heart rate as the initial semiological feature.|HPO|N|
C5397784|A focal autonomic seizure with urge to urinate / defecate characterized by impaired awareness at some point during the seizure.|HPO|N|
C5397785|An autonomic seizure with hypoventilation / hyperventilation / altered respiration characterized by impaired awareness at some point during the seizure.|HPO|N|
C5397787|A focal autonomic seizure with pallor / flushing characterized by impaired awareness at some point during the seizure.|HPO|N|
C5397788|A focal autonomic seizure with epigastric sensation / nausea / vomiting / other gastrointestinal phenomena characterized by impaired awareness at some point during the seizure.|HPO|N|
C5397789|A focal autonomic seizure with pupillary dilation / constriction characterized by impaired awareness at some point during the seizure.|HPO|N|
C5397790|A focal autonomic seizure with erection characterized by impairment of awareness at some point during the seizure.|HPO|N|
C5397791|A focal autonomic seizure with urge to urinate / defecate characterized by retained awareness throughout the seizure.|HPO|N|
C5397792|A focal autonomic seizure with lacrimation characterized by impaired awareness at some point during the seizure.|HPO|N|
C5397793|A focal autonomic seizure with piloerection (bristling of hairs due to the involuntary contraction of small muscles at the base of hair follicles) characterized by retained awareness throughout the seizure.|HPO|N|
C5397794|An autonomic seizure with palpitations / tachycardia / bradycardia / asystole characterized by retained awareness throughout the seizure.|HPO|N|
C5397795|A focal autonomic seizure with epigastric sensation / nausea / vomiting / other gastrointestinal phenomena characterized by retained awareness throughout the seizure.|HPO|N|
C5397796|A focal sensory seizure in which awareness is partially or fully impaired at some point during the seizure.|HPO|N|
C5397797|A focal autonomic seizure with palpitations / tachycardia / bradycardia / asystole characterized by impaired awareness at some point during the seizure.|HPO|N|
C5397798|A focal behavior arrest seizure characterized by retained awareness throughout the seizure.|HPO|N|
C5397799|A focal behavior arrest seizure characterized by impaired awareness at some point during the seizure.|HPO|N|
C5397800|A focal cognitive seizure with anomia characterized by impairment of awareness at some point during the seizure.|HPO|N|
C5397801|A focal cognitive seizure with receptive dysphasia / aphasia characterized by impairment of awareness at some point during the seizure.|HPO|N|
C5397802|A generalized myoclonic-tonic-clonic seizure is a type of generalized motor seizure characterized by a single or multiple jerks of limbs bilaterally, followed by tonic and clonic phases. The initial jerks can be considered to be either a brief period of clonus or myoclonus.|HPO|N|
C5397803|A focal cognitive seizure with left-right confusion characterized by impairment of awareness at some point during the seizure.|HPO|N|
C5397804|Seizures characterized by olfactory phenomena at onset - usually an odor, which is often unpleasant.|HPO|N|
C5397805|A focal cognitive seizure with neglect characterized by impairment of awareness at some point during the seizure.|HPO|N|
C5397806|A focal hemiclonic seizure in which awareness is impaired at some point during the seizure.|HPO|N|
C5397807|A seizure characterized by symptoms of dizziness, spinning, vertigo or sense of rotation.|HPO|N|
C5397808|A focal cognitive seizure with memory impairment characterized by impairment of awareness at some point during the seizure.|HPO|N|
C5397809|A focal cognitive seizure with dyscalculia / acalculia characterized by impairment of awareness at some point during the seizure.|HPO|N|
C5397810|A focal cognitive seizure with dysgraphia / agraphia characterized by impairment of awareness at some point during the seizure.|HPO|N|
C5397811|A focal sensory seizure with olfaction in which awareness is partially or fully impaired at some point during the seizure.|HPO|N|
C5397812|A focal sensory seizure with vestibular features in which awareness is partially or fully impaired at some point during the seizure.|HPO|N|
C5397813|A focal sensory seizure with visual features in which awareness is partially or fully impaired at some point during the seizure.|HPO|N|
C5397814|Neonatal seizure is a seizure type that occurs in neonatal period and is characterized by an electrographic event with sudden, repetitive, evolving stereotyped waveforms with a beginning and an end. This event can be associated or not with a clinical manifestation.|HPO|N|
C5397815|Neonatal electro-clinical seizure is an electrographic event occurring in neonatal period and coupled with a clinical manifestation.|HPO|N|
C5397816|A seizure characterized by a sensation in the head such as light-headedness or headache as its first clinical manifestation.|HPO|N|
C5397817|Neonatal electrographic only seizure is an electrographic event with sudden, repetitive, evolving stereotyped waveforms with a beginning and an end, which is not associated with a clinical manifestation.|HPO|N|
C5397819|Neonatal electro-clinical motor seizure is a type of neonatal electro-clinical seizure with predominant motor features.|HPO|N|
C5397820|Neonatal electro-clinical clonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is a regularly repeating jerking involving the same muscle groups; it can be symmetric or asymmetric.|HPO|N|
C5397821|Neonatal electro-clinical myoclonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is sudden, brief (<100 msec) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal).|HPO|N|
C5397822|Neonatal multifocal myoclonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is sudden, brief (<100 msec) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal) that occurs at multiple sites.|HPO|N|
C5397823|Neonatal focal myoclonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is sudden, brief (<100 msec) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal) which occurs focally.|HPO|N|
C5397824|Neonatal focal clonic seizure is a type of neonatal electro-clinical clonic seizure where the predominant motor feature is unilateral regularly repeating jerking involving the same muscle groups.|HPO|N|
C5397825|Neonatal bilateral clonic seizure is a type of neonatal electro-clinical clonic seizure where the clonic jerking is bilateral.|HPO|N|
C5397826|Neonatal focal clonic seizure is a type of neonatal electro-clinical clonic seizure where the predominant motor feature is a regularly repeating jerking involving the same muscle groups, which occurs at multiple sites.|HPO|N|
C5397827|Neonatal electro-clinical tonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is a sustained increase in muscle tone, usually focal, that can be unilateral or bilateral, and lasting a few seconds to minutes.|HPO|N|
C5397828|Neonatal electro-clinical non-motor autonomic seizure is a type of neonatal electro-clinical seizure with predominant features of autonomic alterations, involving cardiovascular, pupillary, gastrointestinal, sudomotor, vasomotor, and thermoregulatory functions. May present as apnea.|HPO|N|
C5397829|Neonatal electro-clinical non-motor seizure with behavior arrest is a type of neonatal electro-clinical seizure characterized by an arrest of activities, freezing, immobilization, with or without apnea and/or other autonomic manifestations.|HPO|N|
C5397830|Neonatal focal tonic seizure is a type of neonatal electro-clinical tonic seizure with a focal sustained increase in muscle tone, lasting a few seconds to minutes.|HPO|N|
C5397832|Focal neonatal electro-clinical sequential motor seizure is a type of neonatal electro-clinical seizure where the predominant feature cannot be detected because of seizures presenting with a variety of clinical and electrographic focal signs, often changing lateralization within or between seizures.|HPO|N|
C5397833|Multifocal neonatal electro-clinical sequential motor seizure is a type of neonatal electro-clinical seizure where the predominant feature cannot be detected because of seizures presenting with a variety of clinical and electrographic multifocal signs.|HPO|N|
C5397834|Neonatal bilateral symmetric tonic seizure is a type of neonatal electro-clinical tonic seizure where the sustained increase in muscle tone, lasting a few seconds to minutes, occurs at both sides of the body symmetrically.|HPO|N|
C5397835|Neonatal electro-clinical motor seizure with automatism is a type of neonatal electro-clinical seizure where the electrographic event is correlated with a coordinated motor activity, typically oral, usually with impaired awareness, and in association with other features.|HPO|N|
C5397836|Neonatal seizure with bilateral asymmetric automatism is a type of neonatal electro-clinical seizure where the electrographic event is correlated with coordinated motor activity, typically oral, usually with impaired awareness, occurring at both sides of the body asymmetrically.|HPO|N|
C5397837|Neonatal bilateral asymmetric tonic seizure is a type of neonatal electro-clinical tonic seizure where the sustained increase in muscle tone, lasting a few seconds to minutes, occurs at both sides of the body but asymmetrically.|HPO|N|
C5397838|Neonatal bilateral asymmetric myoclonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is sudden, brief (<100 msec) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal) that occurs at both sides of the body asymmetrically.|HPO|N|
C5397839|A sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that is usually more sustained than a myoclonic movement but not as sustained as a tonic seizure. Limited forms may occur|HPO|N|
C5397840|Neonatal seizure with bilateral asymmetric automatisms is a type of neonatal electro-clinical seizure where the electrographic event is correlated with a coordinated motor activity, typically oral, usually with impaired awareness, occurring at one side of the body.|HPO|N|
C5397841|Neonatal seizure with bilateral asymmetric automatism is a type of neonatal electro-clinical seizure where the electrographic event is correlated with a coordinated motor activity, typically oral, usually with impaired awareness, occurring at both sides of the body symmetrically.|HPO|N|
C5397842|Neonatal bilateral symmetric myoclonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is sudden, brief (<100 msec) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal) that occurs at both sides of the body symmetrically.|HPO|N|
C5397843|Asymmetric neonatal electro-clinical sequential motor seizure is a type of neonatal electro-clinical seizure where the predominant feature cannot be detected because of seizures presenting asymmetrically with a variety of clinical and electrographic signs, often changing lateralization within or between seizures.|HPO|N|
C5397844|Neonatal unilateral epileptic spasm is a sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that occurs at one side of the body.|HPO|N|
C5397845|Symmetric neonatal electro-clinical sequential motor seizure is a type of neonatal electro-clinical seizure where the predominant feature cannot be detected because of seizures presenting symmetrically but with a variety of clinical and electrographic signs.|HPO|N|
C5397846|Neonatal bilateral symmetric epileptic spasm is a sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that occurs symmetrically at both sides of the body.|HPO|N|
C5397847|Neonatal bilateral asymmetric epileptic spasm is a sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that occurs asymmetrically at both sides of the body.|HPO|N|
C5397848|A type of epileptic spasm of generalized onset.|HPO|N|
C5397849|A type of epileptic spasm of focal onset.|HPO|N|
C5397850|A type of focal-onset epileptic spasm in which awareness is impaired at some point during the seizure.|HPO|N|
C5397851|A type of focal-onset epileptic spasm in which awareness is preserved throughout the seizure.|HPO|N|
C5397852|A type of focal motor seizure characterized by a sudden interruption in normal tonic muscle activity lasting 500 ms or less, without evidence of preceding myoclonus as the initial semiological manifestation. The interruption in muscle tone is briefer than seen in a focal atonic seizure.|HPO|N|
C5397853|Focal seizure characterized at onset by clonic movements affecting half of the face with impairment of awareness in which awareness is impaired at some point during the seizure.|HPO|N|
C5397854|A focal cognitive seizure with neglect characterized by retained awareness throughout the seizure.|HPO|N|
C5397855|Aphasic status epilepticus is a type of focal non-convulsive status epilepticus without coma characterized by a cognitive (rather than motor) language deficit.|HPO|N|
C5397856|A focal cognitive seizure with expressive dysphasia / aphasia characterized by retained awareness throughout the seizure.|HPO|N|
C5397857|A seizure characterized by elementary visual hallucinations such as flashing or flickering lights/colors, or other shapes, simple patterns, scotomata, or amaurosis.|HPO|N|
C5397858|A focal cognitive seizure with conduction dysphasia / aphasia characterized by impairment of awareness at some point during the seizure.|HPO|N|
C5397859|A focal sensory seizure with hot-cold sensations in which awareness is partially or fully impaired at some point during the seizure.|HPO|N|
C5397860|Focal seizure characterized at onset by clonic movements affecting half of the face with retained awareness throughout.|HPO|N|
C5397861|Generalised myoclonic-tonic-clonic seizure provoked by flashing or flickering light.|HPO|N|
C5397862|A type of focal bilateral motor seizure during which awareness is fully retained throughout.|HPO|N|
C5397863|A focal motor seizure with negative myoclonus characterized by retained awareness throughout the seizure.|HPO|N|
C5397864|A focal motor seizure with negative myoclonus characterized by impairment of awareness at some point during the seizure.|HPO|N|
C5397865|A focal motor seizure with paresis / paralysis characterized by impaired awareness at some point during the seizure.|HPO|N|
C5397866|Focal non-convulsive status epilepticus with impairment of consciousness is a type of focal non-convulsive status epilepticus in which awareness is impaired.|HPO|N|
C5397867|A type of focal motor status epilepticus characterized by prolonged ictal paresis or inhibitory motor seizures.|HPO|N|
C5397868|Typical absence status epilepticus is a type of generalized non-convulsive status epilepticus without coma that is semiologically a prolonged typical absence seizure.|HPO|N|
C5397869|A type of focal sensory seizure with auditory features during which awareness is retained throughout the seizure.|HPO|N|
C5397870|Myoclonic absence status epilepticus is a type of generalized non-convulsive status epilepticus without coma that is semiologically a prolonged myoclonic absence seizure. Myoclonic absence status epilepticus consists of proximal, predominantly upper extremity myoclonic jerks corresponding with 3 Hz spike-wave discharges in the EEG.|HPO|N|
C5397871|A type of focal motor status epilepticus characterized by repetitive and rapid saccades, in association with epileptic discharges.|HPO|N|
C5397872|Refractory status epilepticus is defined as status epilepticus continuing despite two appropriately selected and dosed antiepileptic drugs, including a benzodiazepine.|HPO|N|
C5397873|Super-refractory status epilepticus is defined as refractory status epilepticus continuing for 24 h or more following initiation of anesthetic medications, including cases in which seizure control is attained after induction of anesthetic drugs but recurs on weaning the patient off the anesthetic agent.|HPO|N|
C5397874|Focal non-convulsive status epilepticus without impairment of consciousness is a type of focal non-convulsive status epilepticus in which awareness remains intact.|HPO|N|
C5397875|A focal cognitive seizure with dyslexia / alexia characterized by impairment of awareness at some point during the seizure.|HPO|N|
C5397876|A focal cognitive seizure with hallucination characterized by retained awareness throughout the seizure.|HPO|N|
C5397877|A focal cognitive seizure with illusion characterized by impairment of awareness at some point during the seizure.|HPO|N|
C5397878|A seizure characterized by a sensation in the head such as light-headedness or headache.|HPO|N|
C5397879|A focal cognitive seizure with auditory agnosia characterized by impairment of awareness at some point during the seizure.|HPO|N|
C5397881|A focal cognitive seizure with conduction dysphasia / aphasia characterized by retained awareness throughout the seizure.|HPO|N|
C5397882|A seizure characterized by sensations of feeling hot and then cold.|HPO|N|
C5397883|A focal sensory seizure with cephalic sensation in which awareness is partially or fully impaired at some point during the seizure.|HPO|N|
C5397884|A focal cognitive epileptic seizure with dissociation at the onset of the seizure and with impairment of awareness at at some point during the seizure.|HPO|N|
C5397885|A focal sensory seizure with auditory features in which awareness is partially or fully impaired at some point during the seizure.|HPO|N|
C5397887|A focal cognitive seizure with deja vu / jamais vu characterized by impairment of awareness at some point during the seizure.|HPO|N|
C5397888|A focal cognitive seizure with deja vu / jamais vu characterized by retained awareness throughout the seizure.|HPO|N|
C5397889|A seizure characterized by sensory phenomena including tingling, numbness, electric-shock like sensation, pain, sense of movement, or desire to move. Awareness is retained throughout the seizure.|HPO|N|
C5397890|A focal cognitive seizure with hallucination characterized by impairment of awareness at some point during the seizure.|HPO|N|
C5397891|A focal cognitive seizure with expressive dysphasia / aphasia characterized by impairment of awareness at some point during the seizure.|HPO|N|
C5397892|Generalized atonic seizure is a type of generalized motor seizure characterized by a sudden loss or diminution of muscle tone without apparent preceding myoclonic or tonic event lasting about 1-2 s, involving head, trunk, jaw, or limb musculature.|HPO|N|
C5397893|A focal cognitive seizure with forced thinking characterized by impairment of awareness at some point during the seizure.|HPO|N|
C5397894|A seizure characterized by taste phenomena including acidic, bitter, salty, sweet, or metallic tastes.|HPO|N|
C5397895|A focal sensory seizure with somatosensory features in which awareness is partially or fully impaired at some point during the seizure.|HPO|N|
C5397896|A focal motor seizure with version characterized by retained awareness throughout the seizure.|HPO|N|
C5397897|Seizure associated with a presumed or proven infection (excluding infection of the central nervous system) or inflammatory state without an alternative precipitant such as metabolic derangement, and regardless of the presence or absence of a fever.|HPO|N|
C5397898|Afebrile (less than 38.0 degrees Celcius), brief, and generalized seizures accompanying gastroenteritis without an alternative cause.|HPO|N|
C5397899|Any form of seizure occurring at the time of a fever (temperature at or above 38.0 degrees Celcius) without infection of the central nervous system, and without an alternative cause such as severe metabolic derangement, occurring at any age.|HPO|N|
C5397900|Any type of seizure (most often a generalized tonic-clonic seizure) occurring with fever (at least 38.0 degrees Celsius) but in the absence of central nervous system infection, severe metabolic disturbance or other alternative precipitant in people beyond the typical arrange of 3 months-6 years with no prior history of afebrile seizure.|HPO|N|
C5397901|Seizure precipitated by listening to music or other complex sounds.|HPO|N|
C5397902|A focal sensory seizure with gustatory features in which awareness is partially or fully impaired at some point during the seizure.|HPO|N|
C5397903|A focal seizure characterized at onset by coordinated motor activity. This often resembles a voluntary movement and may consist of an inappropriate continuation of preictal motor activity.|HPO|N|
C5397904|A type of focal automatism seizure characterized by orofacial automatisms at onset.|HPO|N|
C5397905|A type of focal automatism seizure characterized by manual automatisms at onset.|HPO|N|
C5397906|A type of focal automatism seizure characterized by coordinated bilateral or unilateral movements of the feet or legs at onset. The movement is more reminiscent of normal movements in amplitude, and is less frenetic or rapid in comparison to the movements seen in focal hyperkinetic seizures involving the legs.|HPO|N|
C5397907|A type of focal automatism seizure characterized by inappropriate continuation of pre-seizure movement or behavior at onset.|HPO|N|
C5397908|A type of focal automatism seizure characterized by the production of single or repetitive meaningless vocal sounds such as shrieks or grunts at onset.|HPO|N|
C5397909|A type of focal automatism seizure characterized by the production of single or repetitive words, phrases, or brief sentences at onset.|HPO|N|
C5397910|A type of focal automatism seizure characterized by involuntary sexual behavior at onset.|HPO|N|
C5397911|A type of focal automatism seizure characterized by involuntary head nodding at onset.|HPO|N|
C5397912|A type of focal automatism seizure characterized by involuntary undressing at onset.|HPO|N|
C5397913|A type of focal automatism seizure characterized by involuntary undressing at onset and during which awareness is fully retained throughout.|HPO|N|
C5397914|A focal seizure with automatism in which awareness is partially or fully impaired at some point during the seizure.|HPO|N|
C5397915|A type of focal automatism seizure during which awareness is fully retained throughout.|HPO|N|
C5397916|A type of focal automatism seizure characterized by orofacial automatisms at onset and during which awareness is fully retained throughout.|HPO|N|
C5397917|A type of focal automatism seizure characterized by manual automatisms at onset and during which awareness is fully retained throughout.|HPO|N|
C5397918|A type of focal automatism seizure characterized by coordinated bilateral or unilateral movements of the feet or legs at onset and during which awareness is fully retained throughout. The movement is more reminiscent of normal movements in amplitude, and is less frenetic or rapid in comparison to the movements seen in focal hyperkinetic seizures involving the legs.|HPO|N|
C5397919|A type of focal automatism seizure characterized by inappropriate continuation of pre-seizure movement or behavior at onset and during which awareness is fully retained throughout.|HPO|N|
C5397920|A type of focal automatism seizure characterized by the production of single or repetitive meaningless vocal sounds such as shrieks or grunts at onset and during which awareness is fully retained throughout.|HPO|N|
C5397921|A type of focal automatism seizure characterized by the production of single or repetitive words, phrases, or brief sentences at onset and during which awareness is fully retained throughout.|HPO|N|
C5397922|A type of focal automatism seizure characterized by involuntary sexual behavior at onset and during which awareness is fully retained throughout.|HPO|N|
C5397923|A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by orofacial automatisms at onset.|HPO|N|
C5397924|A type of focal automatism seizure characterized by involuntary head nodding at onset and during which awareness is fully retained throughout.|HPO|N|
C5397925|A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by manual automatisms at onset.|HPO|N|
C5397926|A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by coordinated bilateral or unilateral movements of the feet or legs at onset. The movement is more reminiscent of normal movements in amplitude, and is less frenetic or rapid in comparison to the movements seen in focal hyperkinetic seizures involving the legs.|HPO|N|
C5397927|A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by inappropriate continuation of pre-seizure movement or behavior at onset.|HPO|N|
C5397928|A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by the production of single or repetitive meaningless vocal sounds such as shrieks or grunts at onset.|HPO|N|
C5397929|A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by the production of single or repetitive words, phrases, or brief sentences at onset.|HPO|N|
C5397930|A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by involuntary sexual behavior at onset.|HPO|N|
C5397931|A type of focal automatism in which awareness is partially or fully impaired at some point during the seizure and is seizure characterized by involuntary head nodding at onset.|HPO|N|
C5397932|A type of focal automatism in which awareness is partially or fully impaired at some point during the seizure and is seizure characterized by involuntary undressing at onset.|HPO|N|
C5397934|Any abnormal structure of a chondrocyte, which is a polymorphic cell that forms cartilage.|HPO|N|
C5397935|Concentric rings around the chondrocytes.|HPO|N|
C5397937|An increased level of triacylglycerol lipase in the blood circulation (can be measured in serum or plasma).|HPO|N|
C5397939|Unintentional re-experiencing of a traumatic event involves symptoms that typically include sensory impressions and emotional responses stemming from the trauma. These symptoms seem to lack a sense of time perspective and context.|HPO|N|
C5397940|After experiencing psychological trauma, individuals may repeatedly encounter sensory-perceptual impressions of the event that intrude into their consciousness involuntarily. These intrusive memories often manifest as visual images (such as mental pictures), but can also involve sounds, smells, tastes, and physical sensations. They are accompanied by a variety of negative emotions linked to the most intense moments of the traumatic memory.|HPO|N|
C5397941|Recurrent distressing dreams occur when the content and/or emotional impact of the dream is connected to a traumatic event or events.|HPO|N|
C5397942|Marked physiological reactions to internal or external cues that symbolize or resemble an aspect of the traumatic event(s).|HPO|N|
C5397943|Intense or prolonged psychological distress occurs when individuals are exposed to internal or external cues that symbolize or resemble an aspect of the traumatic event or events.|HPO|N|
C5397944|Avoidance of or efforts to avoid distressing memories, thoughts, or feelings about or closely associated with the traumatic event(s). Avoidance of or efforts to avoid external reminders (people, places, conversations, activities, objects, situations) that arouse distressing memories, thoughts, or feelings about or closely associated with the traumatic event(s).|HPO|N|
C5397945|Urine pH of 8 or higher.|HPO|N|
C5397946|Histopathological findings of inflammation of the renal interstitium potentially involving fibrotic as well as non-fibrotic areas, composed of lymphocytes, monocytes, plasma cells.|HPO|N|
C5397947|Histopathological findings of inflammation of the renal interstitium involving fibrotic as well as non-fibrotic renal cortex, composed of lymphocytes, monocytes, plasma cells.|HPO|N|
C5397948|Histopathological findings of inflammation of the interstitium of the renal medulla, composed of lymphocytes, monocytes, plasma cells.|HPO|N|
C5397949|The presence of interstitial aggregates of purple finely granular/laminated calcium- and phosphate deposits.|HPO|N|
C5397950|Abnormal structure or form of the lumen (opening) of kidney tubules.|HPO|N|
C5397951|Viral cytopathic changes consist of smudgy basophilic intranuclear inclusions with enlarged nuclei of infected cells. Distal tubules are more commonly involved than proximal tubules. There is associated acute tubular injury, often with frank tubular necrosis and destruction, with acute interstitial nephritis, often with a pleomorphic infiltrate composed of lymphocytes, histiocytes, plasma cells, and variable numbers of neutrophils, with interstitial edema and hemorrhage. Tubular destruction may be associated with necrotizing interstitial granulomas. Severe granulomatous tubulointerstitial nephritis appears to be characteristic of adenoviral infection and is quite rare in other viral infections. Focal wedge-shaped necrosis may occur in renal parenchyma. Immunostaining for adenovirus shows strong nuclear and cytoplasmic staining in infected cells.|HPO|N|
C5397952|A type of renal tubular atrophy in which the tubules show thick tubular basement membranes lined by small cuboidal or flat cells. Generally accompanied by fibrosis.|HPO|N|
C5397953|Characteristic intranuclear glassy-appearing basophilic inclusions with surrounding halo (owl's eye-type inclusion) and marked increase in the size of the cell (cytomegaly), particularly in tubular epithelial cells and in endothelial cells. Often accompanied by cytopathic changes including patchy interstitial pleomorphic infiltrate with lymphocytes, plasma cells, and macrophages.|HPO|N|
C5397954|Viral cytopathic changes consist of smudgy basophilic intranuclear inclusions with enlarged nuclei of infected cells. The inclusions stain positive for adenovirus (e.g., Figure 3 of PMID:29273157). Distal tubules are more commonly involved than proximal tubules. Occasionally glomerular visceral and parietal epithelial cells can be infected. There is associated acute tubular injury, often with frank tubular necrosis and destruction, with acute interstitial nephritis, often with a pleomorphic infiltrate composed of lymphocytes, histiocytes, plasma cells, and variable numbers of neutrophils, with interstitial edema and hemorrhage.|HPO|N|
C5397955|Renal tubular nuclear inclusions have a ground-glass appearance with irregular central clearing, or a coarse, vesicular appearance. Distal tubules are involved more often than proximal tubules. There may be only medullary involvement in early stages, and parietal epithelial cells may be involved in later stages of the infection. Infected epithelial cell nuclei stain with antibody to the large T antigen of the SV40 virus, which serves as a surrogate marker of human polyomavirus infection.|HPO|N|
C5397956|Renal tubular nuclear inclusions that stain positive for herpes simplex virus (HSV). HSV is typically associated with multinucleated giant cells with nuclear inclusions and may cause hemorrhagic interstitial nephritis.|HPO|N|
C5397957|The presence of dysmorphic urinary erythrocytes. This feature can be observed by phase-contrastmicroscopy, differential interference microscopy, and bright-field microscopy. The acanthocyte or G1 cell, which is a doughnut-shaped cell with one or more blebs, is reported to constitute a special form of dysmorphic erythro-cyte (D cell) specific for glomerular hematuria.|HPO|N|
C5397958|Birefringent calcium- and oxalate-containing casts located within the tubuli of the kidney.|HPO|N|
C5397959|Purple and finely granular/laminated calcium- and phosphate-containing casts located within the tubuli of the kidney.|HPO|N|
C5397960|Dilated renal tubules (over twice the diameter of a normal proximal tubule) containing eosinophilic amorphous material. This feature is generally accompanied by scalloping of the cast profile. The epithelium lining the microcyst is generally flattened and does not reveal brush border.|HPO|N|
C5397961|Abnormal retention of gas within a lung or part of a lung, as a result of airway obstruction of abnormalities in lung compliance. In the classic presentation, the lung will appear normal at inspiration, but on exhalation, the diseased portions of the lung which have lost connective tissue recoil will remain lucent while the healthy portions of the lung will become more dense due to atelectasis. This helps distinguish it from mosaic attenuation due to patchy fibrosis, as occurs with nonspecific interstitial pneumonia, and in early usual interstitial pneumonitis (the hallmark imaging diagnosis of interstitial lung disease) in which there is no change with inspiration and expiration.|HPO|N|
C5397963|CT finding of ground-glass opacity surrounding a nodule or mass. It was first described as a sign of hemorrhage around foci of invasive aspergillosis. The halo sign is nonspecific and may also be caused by hemorrhage associated with other types of nodules or by local pulmonary infiltration by neoplasm.|HPO|N|
C5397964|A nodular pattern on pulmonary high-resolution computed tomography which are anatomically located centrally within secondary pulmonary lobules. Centrilobular nodules may be dense (i.e., solid) and of homogeneous opacity or ground-glass opacity, and may range from a few millimeters to about 1 cm in size. Because of the similar size of secondary lobules, centrilobular nodules often appear to be evenly spaced. Centrilobular nodules are usually separated from the pleural surfaces, fissures, and interlobular septa by a distance of at least several millimeters. They may appear patchy or diffuse in different diseases.|HPO|N|
C5397965|Abnormal type or counts of nucleated immune cells and acellular components in bronchoalveolar lavage (BAL) fluid. BAL us performed with a fiberoptic bronchoscope in the wedged position within a selected bronchopulmonary segment. BAL is commonly used to inform the differential diagnosis of interstitial lung disease or to monitor therapeutic interventions.|HPO|N|
C5397966|Deviation from the commonly in healthy people observe cellular distribution. Normal ranges are macrophages over 80%, lymphocytes less than 15%, neutrophils less than 3%, eosinophils less than 0.5%, mast cells less than 0.5%.|HPO|N|
C5397967|Any deviation from the normal concentration of protein in the bronchoalveolar fluid.|HPO|N|
C5397968|Usually, Lymphoycytes make up less than 15% of all cells found in the bronchoalveloar lavage fluid. This elevated cell proportion can be induced by virus or drugs, or is associated with specific diseases.|HPO|N|
C5397969|Usually, Neutrophils make up less than 3% of all cells found in the broncho-alveloar lavage fluid. In children, standard value of neutrophils is higher depending on their age (children under the age of 5 show a maximum value of 10%). This elevated cell proportion is a sign for acute and chronic infections (HP:0012387, HP:0006538) and can be associated to specific diseases.|HPO|N|
C5397970|Accumulation of lipids in alveolar macrophages with droplet-shaped fat inclusions.|HPO|N|
C5397971|Hemosiderin-laden macrophages (HLM) in bronchoalveolar lavage (BAL) fluid were originally known as adiagnostic biomarker of alveolar hemorrhage, but have also been observed in idiopathic pulmonary fibrosis (IPF) with histopathological pattern of usual interstitial pneumonia (UIP).|HPO|N|
C5397972|Significantly decreased level or failed detection of surfactant protein C in broncho-alveolar lavage fluid. Comment|HPO|N|
C5397973|Significantly decreased level or failed detection of surfactant protein B in broncho-alveolar lavage fluid.|HPO|N|
C5397975|CT finding of central ground-glass opacity surrounded by denser consolidation of crescentic shape (forming more than three-fourths of a circle) or complete ring of at least 2 mm in thickness. A rare sign, it was initially reported to be specific for cryptogenic organizing pneumonia, but was subsequently described in patients with paracoccidioidomycosis.|HPO|N|
C5397976|Alveolar macrophages usually make up the majority of cells in the bronchoalveolar space (over 80%). The may contain intracellular material depending on underlying diseases or due to exposition to inhaled particles.|HPO|N|
C5397977|Accumulation of inhaled, nondigestable particles in macrophages.|HPO|N|
C5397978|In otherwise healthy smokers, characteristic so called smoker-inclusion can be found within the macrophages in the bronchoalveolar fluid. These blue/ black/ round/ oval cytoplasmic inclusions consist of pigmented lipid deposits.|HPO|N|
C5397979|Usually, eosinophils make up less than 0.5% of all cells found in the broncho-alveloar lavage fluid. But in eosinophilic lung disease, the eosinophil cell proportion typically represents more than 25%. Comment|HPO|N|
C5397980|Delayed achievement of the ability to roll front to back and back to front.|HPO|N|
C5397981|Circumscribed pulmonary hemorrhage originating from a single bleeding site in the lungs. This can be due to infections, tumorigenesis, foreign bodies, or vascular abnormalities. Patient often feel the site of bleeding, contrast CT scan or angiography may localize the bleeder.|HPO|N|
C5397982|An abnormal form or number of the pulmonary fissures.|HPO|N|
C5397983|An abnormal form or location of a pulmonary fissure.|HPO|N|
C5397984|A deviation from the normal number of pulmonary fissures.|HPO|N|
C5397985|Presence of a lung fissure that does not exist normally. Supernumerary fissures include the superior accessory fissure, the medial basal fissure, the left horizontal fissure, and the azygos fissure form supernumerary lobes.|HPO|N|
C5397986|Lack of one or more of the normal pulmonary fissures.|HPO|N|
C5397987|Any deviation from the normal concentration of cystatin C in serum or plasma.|HPO|N|
C5397988|A decreased concentration of cystatin C in the blood circulation.|HPO|N|
C5397989|A elevated concentration of cystatin C in the blood circulation.|HPO|N|
C5397990|Abnormally high concentration of fecal porphyrins in feces.|HPO|N|
C5397991|A wart-like lesion (papilloma, i.e., benign epithelial tumors that are caused by infection with the human papilloma virus) located on a bronchus.|HPO|N|
C5397992|Multiple verrucous lesions on the skin of the palm. These lesions are raised, have a thickened and rough surface, and may display prominent black dots (thrombosed capillaries). Palmar warts are caused by human papillomavirus (HPV).|HPO|N|
C5397993|Architectural distortion is characterized by abnormal displacement of bronchi, vessels, fissures, or septa caused by diffuse or localized lung disease, particularly interstitial fibrosis. This is visible in lung biopsy and CT scans in a distorted appearance and is usually associated with pulmonary fibrosis and accompanied by volume loss.|HPO|N|
C5397994|Abnormally increased width of the Z-disk of the sarcomere, resulting from splitting or opening of the Z-disc (c.f., Figure 2 of PMID:28732005).|HPO|N|
C5397995|Abnormally high concentration of coproporphyrin 1 in feces.|HPO|N|
C5397996|Abnormally high concentration of coproporphyrin 3 in feces|HPO|N|
C5397997|Any deviation from the normal concentration of a metabolite in saliva.|HPO|N|
C5397998|Any deviation from the normal concentration of cortisol in saliva.|HPO|N|
C5397999|Abnormally reduced concentration of cortisol in saliva.|HPO|N|
C5398000|Abnormally elevated concentration of cortisol in saliva.|HPO|N|
C5398001|A lasting reduction beneath the normal level of total immunoglobulin D (IgD) in the blood.|HPO|N|
C5398002|A temporary reduction beneath the normal level of total immunoglobulin D (IgD) in the blood circulation.|HPO|N|
C5398003|A lasting absence of immunoglobulin D (IgD) in the blood, whereby at most trace quantities of IgD can be measured.|HPO|N|
C5398004|A temporary reduction beneath the normal level of total immunoglobulin E (IgE) in the blood.|HPO|N|
C5398005|A lasting reduction beneath the normal level of total immunoglobulin E (IgE) in the blood.|HPO|N|
C5398006|A lasting absence of immunoglobulin E (IgE) in the blood circulation, whereby at most trace quantities of IgE can be measured.|HPO|N|
C5398007|A temporary reduction beneath the normal level of total immunoglobulin A (IgA) in the blood circulation.|HPO|N|
C5398008|A lasting absence of immunoglobulin G (IgG) in the blood, whereby at most trace quantities of IgG can be measured.|HPO|N|
C5398009|A small circumscribed whitish change in the color of the oral mucosa that is neither elevated nor depressed.|HPO|N|
C5398011|Tubular lumnal dilatation/prominence lined by simple layer of cuboidal-to-flat tublar epihelial cells.|HPO|N|
C5398012|Any morphological abnormality of the cervical vertebral column.|HPO|N|
C5398013|Abnormal proportion of helper T cells relative to the total number of T cells.|HPO|N|
C5398014|Increased proportion of helper T cells relative to the total number of T cells.|HPO|N|
C5398015|An increased proportion of CD8-positive, alpha-beta effector memory RA TEMRA T cells compared to the total number of T cells in the blood. These cells have the phenotype CD45RA-positive, CD45RO-negative, and CCR7-negative.|HPO|N|
C5398016|An decreased proportion of CD8-positive, alpha-beta effector memory RA TEMRA T cells compared to the total number of T cells in the blood. These cells have the phenotype CD45RA-positive, CD45RO-negative, and CCR7-negative.|HPO|N|
C5398017|An abnormal proportion of circulating CD4-positive helper T cells relative to total T cell count.|HPO|N|
C5398018|Abnormal proportion of gamma-delta T cells relative to the total number of T cells.|HPO|N|
C5398019|Increased proportion of gamma-delta T cells relative to the total number of T cells.|HPO|N|
C5398020|Decreased proportion of gamma-delta T cells relative to the total number of T cells.|HPO|N|
C5398021|Abnormal proportion of immature gamma-delta T cells relative to the total number of T cells.|HPO|N|
C5398022|Increased proportion of immature gamma-delta T cells relative to the total number of T cells.|HPO|N|
C5398023|Decreased proportion of immature gamma-delta T cells relative to the total number of T cells.|HPO|N|
C5398024|The presence of birefringent calcium- and oxalate deposits in interstitial cells of the kidney.|HPO|N|
C5398025|A pebbly orange appearance of the fundus that is said to resemble the skin of an orange.|HPO|N|
C5398026|Tonic status epilepticus is a type of status epilepticus characterized by focal or bilateral limb stiffening or elevation, which may be electrographically generalized or focal.|HPO|N|
C5399759|The term rotator cuff describes the tendons connecting the infraspinatus, supraspinatus, teres minor, and subscapularis muscles to the humeral head.Traumatic tears of the rotator cuff tend to occur at the tendon-bone junction of the supraspinatus and greater tuberosity of the humerus whereas degenerative tears tend to be seen posteriorly at the junction of the supraspinatus and infraspinatu A rotator cuff tear is when one or more of these tendons tears or detaches from the humerus.|HPO|N|
C5399761|Cerebrooculofacioskeletal syndrome (COFS) is an autosomal recessive progressive neurodegenerative disorder characterized by microcephaly, congenital cataracts, severe mental retardation, facial dysmorphism, and arthrogryposis (summary by Jaakkola et al., 2010).
Genetic Heterogeneity of Cerebrooculofacioskeletal Syndrome
See also COFS2 (610756), caused by mutation in the ERCC2 gene (126340); COFS3 (616570), caused by mutation in the ERCC5 gene (133530); and COFS4 (610758), caused by mutation in the ERCC1 gene (126380).|OMIM|N|
C5399762|MED12-related disorders include the phenotypes of FG syndrome type 1 (FGS1), Lujan syndrome (LS), X-linked Ohdo syndrome (XLOS), Hardikar syndrome (HS), and nonspecific intellectual disability (NSID). FGS1 and LS share the clinical findings of cognitive impairment, hypotonia, and abnormalities of the corpus callosum. FGS1 is further characterized by absolute or relative macrocephaly, tall forehead, downslanted palpebral fissures, small and simple ears, constipation and/or anal anomalies, broad thumbs and halluces, and characteristic behavior. LS is further characterized by large head, tall thin body habitus, long thin face, prominent nasal bridge, high narrow palate, and short philtrum. Carrier females in families with FGS1 and LS are typically unaffected. XLOS is characterized by intellectual disability, blepharophimosis, and facial coarsening. HS has been described in females with cleft lip and/or cleft palate, biliary and liver anomalies, intestinal malrotation, pigmentary retinopathy, and coarctation of the aorta. Developmental and cognitive concerns have not been reported in females with HS. Pathogenic variants in MED12 have been reported in an increasing number of males and females with NSID, with affected individuals often having clinical features identified in other MED12-related disorders.|GeneReviews|N|
C5399763|Lynch syndrome is characterized by an increased risk for colorectal cancer (CRC) and cancers of the endometrium, ovary, stomach, small bowel, urinary tract, biliary tract, brain (usually glioblastoma), skin (sebaceous adenomas, sebaceous carcinomas, and keratoacanthomas), pancreas, and prostate. Cancer risks and age of onset vary depending on the associated gene. Several other cancer types have been reported to occur in individuals with Lynch syndrome (e.g., breast, sarcomas, adrenocortical carcinoma). However, the data are not sufficient to demonstrate that the risk of developing these cancers is increased in individuals with Lynch syndrome.|GeneReviews|N|
C5399764|An abnormaltiy of the rectum, the final segment of the large intestine that stores solid waste until it passes through the anus.|HPO|N|
C5399765|An increased amount of arginine levels in the blood.|HPO|N|
C5399766|An increased concentration of histidine in the urine.|HPO|N|
C5399772|A drug accumulation greater than 5. It is associated with high risk of toxic drug accumulation.|NCI|N|
C5399773|A final version of a CDISC standard that has completed the CDISC standards development process.|NCI|N|
C5399780|The presence of normal overall immunoglobulin levels with deficiency of specific immunoglobulins directed against a specific antigen or microorganism.|HPO|N|
C5399785|Mandibuloacral dysplasia with type A lipodystrophy (MADA) is an autosomal recessive disorder characterized by growth retardation, craniofacial anomalies with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and pigmentary skin changes. The lipodystrophy is characterized by a marked acral loss of fatty tissue with normal or increased fatty tissue in the neck and trunk. Some patients may show progeroid features. Metabolic complications can arise due to insulin resistance and diabetes (Young et al., 1971; Simha and Garg, 2002; summary by Garavelli et al., 2009).
See also MAD type B (MADB; 608612), which is caused by mutation in the ZMPSTE24 gene (606480).|OMIM|N|
C5399786|A benign, often polypoid, fibroblastic neoplasm characterized by bizarre pleomorphic cells. (WHO 2018)|NCI|N|
C5399787|A response of 5 on a scale for the subjective scoring of worry that ranges from 1: I never worry about it to 6: I worry about it all the time.|NCI|N|
C5399794|A benign, intermediate, or malignant mesenchymal neoplasm composed of fibrohistiocytic cells, spindle fibroblastic cells, and histiocytes, in a storiform pattern.|NCI|N|
C5399819|The infection of a urinary organ due to Mycobacterium tuberculosis.|NCI|N|
C5399823|Tall head relative to width and length.|HPO|N|
C5399824|An extremely rare malignant mixed odontogenic neoplasm in which both the epithelial and the mesenchymal components are cytologically malignant. (WHO 2017)|NCI|N|
C5399825|X-linked lymphoproliferative disease (XLP) has two recognizable subtypes, XLP1 and XLP2. XLP1 is characterized predominantly by one of three commonly recognized phenotypes: Inappropriate immune response to Epstein-Barr virus (EBV) infection leading to hemophagocytic lymphohistiocytosis (HLH) or severe mononucleosis. Dysgammaglobulinemia. Lymphoproliferative disease (malignant lymphoma). XLP2 is most often characterized by HLH (often associated with EBV), dysgammaglobulinemia, and inflammatory bowel disease. HLH resulting from EBV infection is associated with an unregulated and exaggerated immune response with widespread proliferation of cytotoxic T cells, EBV-infected B cells, and macrophages. Dysgammaglobulinemia is typically hypogammaglobulinemia of one or more immunoglobulin subclasses. The malignant lymphomas are typically B-cell lymphomas, non-Hodgkin type, often extranodal, and in particular involving the intestine.|GeneReviews|N|
C5399834|An abnormality of the skeleton of foot.|HPO|N|
C5399852|A ventricular septal defect that involves the inlet of the right ventricular septum immediately inferior to the AV valve apparatus.|HPO|N|
C5399870|A rare genetic congenital limb malformation with characteristics of brachydactyly of fingers with major proximal phalangeal shortening and immobile proximal interphalangeal joints, as well as dorsally and proximally placed, non-articulating great toes (with or without angulation). Radiographic findings of hands include bilateral double first metacarpals and biphalangeal fifth fingers.|SNOMEDCT_US|N|
C5399871|A partial or complete breakage of the phalanx.|HPO|N|
C5399913|The term 'brachyolmia' was coined to designate a bone dysplasia characterized clinically by short trunk dwarfism and radiographically by generalized platyspondyly without significant long bone abnormalities. The Maroteaux type of brachyolmia is an autosomal recessive form in which there is rounding of the anterior and posterior vertebral borders, with less elongation on lateral view and less lateral extension on anteroposterior view than is seen in the Hobaek type of brachyolmia (271530). Maroteaux brachyolmia may also be associated with precocious calcification of the falx cerebri, and minor facial anomalies (summary by Shohat et al., 1989).
For a discussion of genetic heterogeneity of brachyolmia, see 271530.|OMIM|N|
C5399921|An intracholecystic papillary neoplasm, usually with high grade intraepithelial neoplasia, that arises from the gallbladder. It is associated with the presence of an invasive carcinoma. The carcinomatous component is an adenocarcinoma.|NCI|N|
C5399947|A non-invasive pancreatic intraductal papillary mucinous neoplasm characterized by the presence of neoplastic epithelial cells that form a single layer and are well polarized. The neoplastic cells exhibit small and uniform nuclei, mild pleomorphism, and rare mitotic figures.|NCI|N|
C5399950|Elevated levels of proline-containing dipeptides in urine.|HPO|N|
C5399957|An indication that a file is active within a data repository.|NCI|N|
C5399969|The phenotypic spectrum of GARS1-associated axonal neuropathy ranges from GARS1 infantile-onset SMA (GARS1-iSMA) to GARS1 adolescent- or early adult-onset hereditary motor/sensory neuropathy (GARS1-HMSN). GARS1-iSMA. Age of onset ranges from the neonatal period to the toddler years. Initial manifestations are typically respiratory distress, poor feeding, and muscle weakness (distal greater than proximal). Weakness is slowly progressive, ultimately requiring mechanical ventilation and feeding via gastrostomy tube. GARS1-HMSN. Age of onset is most commonly during the second decade (range eight to 36 years). Initial manifestations are typically muscle weakness in the hands sometimes with sensory deficits. Lower limb involvement (seen in ~50% of individuals) ranges from weakness and atrophy of the extensor digitorum brevis and weakness of toe dorsiflexors to classic peroneal muscular atrophy with foot drop and a high steppage gait.|GeneReviews|N|
C5399970|Facioscapulohumeral muscular dystrophy (FSHD) typically presents with weakness of the facial muscles, the stabilizers of the scapula, or the dorsiflexors of the foot. Severity is highly variable. Weakness is slowly progressive and approximately 20% of affected individuals eventually require a wheelchair. Life expectancy is not shortened.|GeneReviews|N|
C5399971|The IFAP/BRESHECK syndrome is an X-linked multiple congenital anomaly disorder with variable severity. The classic triad, which defines IFAP, is ichthyosis follicularis, atrichia, and photophobia. Some patients have additional features, including mental retardation, brain anomalies, Hirschsprung disease, corneal opacifications, kidney dysplasia, cryptorchidism, cleft palate, and skeletal malformations, particularly of the vertebrae, which constitutes BRESHECK syndrome (summary by Naiki et al., 2012).
Genetic Heterogeneity of IFAP Syndrome
IFAP syndrome-2 (IFAP2; 619016) is caused by heterozygous mutation in the SREBF1 gene (184756) on chromosome 17p11.|OMIM|N|
C5399973|A form of gray matter heterotopia were the mislocalized gray matter is typically located periventricularly, also sometimes called subependymal heterotopia. Periventricular means beside the ventricles. This is by far the most common location for heterotopia. Subependymal heterotopia present in a wide array of variations. There can be a small single node or a large number of nodes, can exist on either or both sides of the brain at any point along the higher ventricle margins, can be small or large, single or multiple, and can form a small node or a large wavy or curved mass.|HPO|N|
C5399974|ROR2-related Robinow syndrome is characterized by distinctive craniofacial features, skeletal abnormalities, and other anomalies. Craniofacial features include macrocephaly, broad prominent forehead, low-set ears, ocular hypertelorism, prominent eyes, midface hypoplasia, short upturned nose with depressed nasal bridge and flared nostrils, large and triangular mouth with exposed incisors and upper gums, gum hypertrophy, misaligned teeth, ankyloglossia, and micrognathia. Skeletal abnormalities include short stature, mesomelic or acromesomelic limb shortening, hemivertebrae with fusion of thoracic vertebrae, and brachydactyly. Other common features include micropenis with or without cryptorchidism in males and reduced clitoral size and hypoplasia of the labia majora in females, renal tract abnormalities, and nail hypoplasia or dystrophy. The disorder is recognizable at birth or in early childhood.|GeneReviews|N|
C5399975|Distal myopathy with rimmed vacuoles (DMRV) is an autosomal dominant myopathic disorder characterized by adult onset of muscle weakness affecting the distal upper and lower limbs, which may result in walking difficulties, as well as proximal weakness of the shoulder girdle muscles. Muscle biopsy shows rimmed vacuoles (summary by Bucelli et al., 2015).|OMIM|N|
C5399976|Increased concentration of isovaleric acid, a C5, branched-chain saturated fatty acid, in the blood concentration.|HPO|N|
C5399977|Mitochondrial complex IV deficiency nuclear type 2 (MC4DN2) is an autosomal recessive multisystem metabolic disorder characterized by the onset of symptoms at birth or in the first weeks or months of life. Affected individuals have severe hypotonia, often associated with feeding difficulties and respiratory insufficiency necessitating tube feeding and mechanical ventilation. The vast majority of patients develop hypertrophic cardiomyopathy in the first days or weeks of life, which usually leads to death in infancy or early childhood. Patients also show neurologic abnormalities, including developmental delay, nystagmus, fasciculations, dystonia, EEG changes, and brain imaging abnormalities compatible with a diagnosis of Leigh syndrome (see 256000). There may also be evidence of systemic involvement with hepatomegaly and myopathy, although neurogenic muscle atrophy is more common and may resemble spinal muscular atrophy type I (SMA1; 253300). Serum lactate is increased, and laboratory studies show decreased mitochondrial complex IV protein and activity levels in various tissues, including heart and skeletal muscle. Most patients die in infancy of cardiorespiratory failure (summary by Papadopoulou et al., 1999).
For a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see 220110.|OMIM|N|
C5399980|Individuals with hereditary distal renal tubular acidosis (dRTA) typically present in infancy with failure to thrive, although later presentations can occur, especially in individuals with autosomal dominant SLC4A1-dRTA. Initial clinical manifestations can also include emesis, polyuria, polydipsia, constipation, diarrhea, decreased appetite, and episodes of dehydration. Electrolyte manifestations include hyperchloremic non-anion gap metabolic acidosis and hypokalemia. Renal complications of dRTA include nephrocalcinosis, nephrolithiasis, medullary cysts, and impaired renal function. Additional manifestations include bone demineralization (rickets, osteomalacia), growth deficiency, sensorineural hearing loss (in ATP6V0A4-, ATP6V1B1-, and FOXI1-dRTA), and hereditary hemolytic anemia (in some individuals with SLC4A1-dRTA).|GeneReviews|N|
C5400033|A squamous cell carcinoma characterized by the formation of gland-like structures.|NCI|N|
C5400107|An indication that a file has invalid data or is in an invalid format and cannot be submitted to a data repository.|NCI|N|
C5400232|Diagnosis of celiac disease at a later age despite an asymptomatic clinical course. Serologic evidence with minimal histological changes in the intestinal mucosa are noted. The presence of human tissue transglutaminase, endomysial and gliadin antibodies without substantial villous changes follow many years of a seemingly gluten-tolerant diet. Despite an unremarkable clinical course, continued unrestricted gluten intake may predispose to the same sequelae as overt disease.|NCI|N|
C5400654|An indication of whether a neoplastic disease has extended beyond its anatomic site of origin.|NCI|N|
C5400660|An indication that a file has been released to the users of a database or data repository.|NCI|N|
C5400663|An individual history of cancer of the respiratory system.|NCI|N|
C5400664|Alopecia caused by treatment with endocrine therapy agents.|NCI|N|
C5400677|Aplastic anemia that is characterized by bone marrow cellularity less than 30% and does not meet criteria for severe aplastic anemia.|NCI|N|
C5400680|A change in the nucleotide sequence of the PIK3R3 gene.|NCI|N|
C5400698|Accumulation of amorphous PAS-positive material in the space between alveolar macrophages, sometimes as condensed form (oval bodies) are typically found in alveolar proteinosis.|HPO|N|
C5400750|An indication that cancer cells have been detected in four or more lymph nodes.|NCI|N|
C5400765|A high-grade carcinoma that arises from the salivary glands. This category includes large and small cell types with or without neuroendocrine differentiation.|NCI|N|
C5400767|An indication that a submitted file or the data within a file has been redacted before or during submission to a data repository.|NCI|N|
C5400814|A response of 1 on a scale for the subjective scoring of thought that ranges from 1: I don''t think about it at all to 6: I think about it all the time.|NCI|N|
C5400815|A response of 1 on a scale for the subjective scoring of fear that ranges from 1: Not at all afraid to 6: I Very afraid.|NCI|N|
C5400816|A response of 1 on a scale for the subjective scoring of worry that ranges from 1: I never worry about it to 6: I worry about it all the time.|NCI|N|
C5400817|A response of 3 on a scale for the subject scoring of upset that ranges from 1: It does not upset me at all to 6: It makes me extremely upset.|NCI|N|
C5400818|A response of 3 on a scale for the subjective scoring of thought that ranges from 1: I don''t think about it at all to 6: I think about it all the time.|NCI|N|
C5400819|A response of 3 on a scale for the subjective scoring of worry that ranges from 1: I never worry about it to 6: I worry about it all the time.|NCI|N|
C5400820|A status indicating that an individual was admitted to a non-ICU hospital ward at enrollment, but required oxygen.|NCI|N|
C5400821|A response of 3 on a scale for the subjective scoring of fear that ranges from 1: Not at all afraid to 6: Very afraid.|NCI|N|
C5400822|A response of 4 on a scale for the subjective scoring of thought that ranges from 1: I don''t think about it at all to 6: I think about it all the time.|NCI|N|
C5400823|A status indicating that an individual was admitted to either an ICU or non-ICU at enrollment, but required non-invasive ventilatory support or high flow O2.|NCI|N|
C5400824|A response of 4 on a scale for the subjective scoring of worry that ranges from 1: I never worry about it to 6: I worry about it all the time.|NCI|N|
C5400825|A response of 4 on a scale for the subject scoring of upset that ranges from 1: It does not upset me at all to 6: It makes me extremely upset.|NCI|N|
C5400826|A response of 2 on a scale for the subjective scoring of worry that ranges from 1: I never worry about it to 6: I worry about it all the time.|NCI|N|
C5400827|A response of 2 on a scale for the subject scoring of upset that ranges from 1: It does not upset me at all to 6: It makes me extremely upset.|NCI|N|
C5400828|A response of 2 on a scale for the subjective scoring of fear that ranges from 1: Not at all afraid to 6: Very afraid.|NCI|N|
C5400829|A response of 2 on a scale for the subjective scoring of thought that ranges from 1: I don''t think about it at all to 6: I think about it all the time.|NCI|N|
C5400830|A status indicating that an individual was admitted to a non-ICU hospital ward at enrollment, but did not require oxygen.|NCI|N|
C5400831|A drug accumulation of less than 1.2. It is associated with no risk of toxic drug accumulation.|NCI|N|
C5400832|A status indicating that an individual was admitted to the ICU at enrollment and required mechanical or imminent ventilation or intubation.|NCI|N|
C5400833|A response of 5 on a scale for the subjective scoring of thought that ranges from 1: I don''t think about it at all to 6: I think about it all the time.|NCI|N|
C5400834|A response of 5 on a scale for the subjective scoring of fear that ranges from 1: Not at all afraid to 6: Very afraid.|NCI|N|
C5400835|A response of 5 on a scale for the subject scoring of upset that ranges from 1: It does not upset me at all to 6: It makes me extremely upset.|NCI|N|
C5400836|A benign fibro-osseous neoplasm affecting the jaws and the craniofacial skeleton. (WHO 2017)|NCI|N|
C5400837|A simple odontogenic cyst lined by ameloblastoma-like epithelium, which contains focal accumulations of ghost cells. (WHO 2017)|NCI|N|
C5400848|A change in the nucleotide sequence of the ATRX gene that is associated with increased risk of disease.|NCI|N|
C5400923|Insufficient lubrication on a device.|NCI|N|
C5400924|Patient requires admission to or extension of stay in an intensive care unit.|NCI|N|
C5400926|The sum of the scaled scores for processing speed from subtests within selected scales for intelligence.|NCI|N|
C5400927|A version of a CDISC standard whose conclusiveness is dependent upon the fulfillment of some contingency or final alteration.|NCI|N|
C5400989|Transmission of an infectious disease from a reservoir vertebrate population with a high pathogen prevalence coming into contact with a naive human population.|NCI|N|
C5400991|A cerebral infarction that is evident by new neurological symptoms lasting greater than 24 hours or having an area of diffusion restriction or a T2 or fluid-attenuated inversion recovery (FLAIR) hyperintensity on an MRI of the brain that was consistent with the neurological findings.|NCI|N|
C5400992|A morphologic finding the replacement of the normal lower esophagus squamous epithelium with columnar epithelium.|NCI|N|
C5401020|An indication that a submitted file has been suppressed from the view of the users for a data repository.|NCI|N|
C5401097|A rare appendix mucinous neoplasm characterized by the presence of neoplastic epithelial cells with high grade features.|NCI|N|
C5401098|A change in the cysteine at position 481 of the tyrosine-protein kinase BTK protein to another amino acid that confers resistance to pharmacological inhibitors targeting BTK activity, such as ibrutinib.|NCI|N|
C5401119|A status indicating that an individual was discharged at enrollment.|NCI|N|
C5401120|A response of 1 on a scale for the subject scoring of upset that ranges from 1: It does not upset me at all to 6: It makes me extremely upset.|NCI|N|
C5401121|A response of 4 on a scale for the subjective scoring of fear that ranges from 1: Not at all afraid to 6: Very afraid.|NCI|N|
C5401123|A response of 6 on a scale for the subjective scoring of worry that ranges from 1: I never worry about it to 6: I worry about it all the time.|NCI|N|
C5401124|A response of 6 on a scale for the subjective scoring of thought that ranges from 1: I don''t think about it at all to 6: I think about it all the time.|NCI|N|
C5401125|A response of 6 on a scale for the subjective scoring of fear that ranges from 1: Not at all afraid to 6: Very afraid.|NCI|N|
C5401127|A change in the nucleotide sequence of the BLM gene that is associated with increased risk of disease.|NCI|N|
C5401140|A mutation in the WRN gene that is associated with an increased risk of disease.|NCI|N|
C5401211|A status indicating that a clinical study or trial subject is currently in the process of being registered for the study or trial.|NCI|N|
C5401226|A malignant neoplasm of the skin that has spread to other anatomic sites.|NCI|N|
C5401229|An adverse event that has life-threatening consequences; for which urgent intervention is indicated; that puts the patient at risk of death at the time of the event if immediate intervention is not undertaken.|NCI|N|
C5401231|A mutation in the IDH2 gene that is associated with an increased risk of disease.|NCI|N|
C5401232|A mutation in the IDH1 gene that is associated with an increased risk of disease.|NCI|N|
C5401297|A parameter that is used to assess global left ventricular systolic function by quantifying the percent change in myocardial length from a relaxed to a contractile state using tissue tracking imaging techniques.|NCI|N|
C5401298|A rare developmental anomaly characterized by the presence of ectopic adipose tissue within the upper half of the dermis. (WHO 2018)|NCI|N|
C5401300|A rare, low-grade primary intraosseous carcinoma of the jaws, with bland cytology, markedly sclerotic stroma, and aggressive infiltration. It is characterized by single-file thin cords, nests, and strands of epithelium in a densely sclerotic stroma. Cytologically, individual epithelial cells are bland, with infrequent mitoses. Their cytoplasm may show vacuolation or partial clearing. There is no squamous differentiation. Despite the benign appearance, there is invasion of skeletal muscle, and perineural infiltration is characteristic. (WHO 2017)|NCI|N|
C5401306|An autosomal recessive subtype of hereditary spastic paraplegia caused by mutation(s) in the KIF1A gene, encoding kinesin-like protein KIF1A.|NCI|N|
C5401307|An indication that a submitted file has successfully been uploaded to a data repository.|NCI|N|
C5401308|Carcinoma that arises from the intrahepatic, hilar, extrahepatic bile ducts, cystic duct, or gallbladder and has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5401353|A hematologic response to treatment for aplastic anemia that meets the criteria of normal hemoglobin level for age, absolute neutrophil count, and platelet count.|NCI|N|
C5401355|A carcinoma that arises from tooth-forming tissues.|NCI|N|
C5401356|A benign epithelial neoplasm composed of columnar cells with differentiation to chief cells, parietal cells, or both, with a high rate of progression to adenocarcinoma (submucosal invasion). (WHO 2019)|NCI|N|
C5401368|Excessive saliva production.|NCI|N|
C5401372|A finding concept that has been requested by CTRP to be used in the disease field for abstraction and search of clinical trials.|NCI|N|
C5401376|Anal canal or perianal skin intraepithelial neoplasia with moderate or severe dysplasia.|NCI|N|
C5401381|Cemento-osseous dysplasia affecting the apical areas of mandibular anterior teeth. (WHO 2017)|NCI|N|
C5401390|A molecular abnormality indicating rearrangement of the CCND1 gene.|NCI|N|
C5401399|A subjective score of 4 on an agreement scale that goes from 1: Not at All to 5: Very Much.|NCI|N|
C5401417|Anal carcinoma that has spread from its primary site to another anatomic site.|NCI|N|
C5401418|A hematologic response to treatment for aplastic anemia that does not meet the criteria for a complete response, but meets the criteria for less severe disease and allows the patient to become or remain transfusion-independent.|NCI|N|
C5401426|A subjective score of 5 on an agreement scale that goes from 1: Not at All to 5: Very Much.|NCI|N|
C5401434|A subjective score of 3 on an agreement scale that goes from 1: Not at All to 5: Very Much.|NCI|N|
C5401456|Approximately 5 to 20% of all patients with neurofibromatosis type I (162200) carry a heterozygous deletion of approximately 1.4 Mb involving the NF1 gene and contiguous genes lying in its flanking regions (Riva et al., 2000; Jenne et al., 2001), which is caused by nonallelic homologous recombination of NF1 repeats A and C (Dorschner et al., 2000). The 'NF1 microdeletion syndrome' is often characterized by a more severe phenotype than that observed in the majority of NF1 patients. In particular, patients with NF1 microdeletion often show variable facial dysmorphism, mental retardation, developmental delay, an excessive number of early-onset neurofibromas (Venturin et al., 2004), and an increased risk for malignant peripheral nerve sheath tumors (De Raedt et al., 2003).|OMIM|N|
C5401473|An odontogenic sarcoma producing dentin/dentinoid.|NCI|N|
C5401476|An inflammatory collateral cyst that arises on the lower third molars. (WHO 2017)|NCI|N|
C5417704|A lethal form of advanced castration-resistant prostate carcinoma that emerges in the later stages of castration-resistant treatment. It is an adaptive response to androgen receptor pathway inhibition. The morphologic features vary, ranging from poorly differentiated carcinomas to mixed adenocarcinoma-small cell carcinomas to pure small cell carcinomas expressing neuroendocrine markers. Clinically, it manifests with rapidly progressive disease, visceral or lytic bone metastases and bulky tumor masses. Molecular studies have shown the loss of tumor suppressor genes TP53 and RB1.|NCI|N|
C5417705|Overfill which occurs when there is more than the desired amount of fluid in the abdomen during peritoneal dialysis.|NCI|N|
C5417717|Hepatocellular adenoma with features of both beta-catenin-activated hepatocellular adenoma and inflammatory hepatocellular adenoma.|NCI|N|
C5417718|Hepatocellular carcinoma characterized by the presence of steatohepatitis features, including macrovesicular steatosis, fibrosis, ballooning of malignant hepatocytes, Mallory bodies, and inflammation.|NCI|N|
C5417719|Hepatocellular carcinoma characterized by more than 50% growth of macrotrabecular pattern (equal to or more than 6 to 10 cells thick). It presents with higher grade and stage compared to conventional hepatocellular carcinoma. It has poor prognosis with early recurrence and poor overall survival.|NCI|N|
C5417721|A rare midline nasopharyngeal lesion that affects infants. It presents with respiratory distress due to nasal airway obstruction. It is a biphasic lesion characterized by the presence of epithelial and myoepithelial components. The histological features suggest that this lesion may be a hamartoma, rather than a neoplasm.|NCI|N|
C5417733|Aplastic anemia that is characterized by bone marrow (BM) cellularity less than 25% (or less than 50% if BM is comprised of less than 30% hematopoietic cells), and two or more of the following: absolute neutrophil count of less than 200 per microliter; platelet count of less than 20,000 per microliter; or an absolute reticulocyte count of less than 20,000 per microliter.|NCI|N|
C5417734|An inflammatory collateral cyst that arises on the lower first or second molars. (WHO 2017)|NCI|N|
C5417745|A compound nevus that arises from the conjunctiva in children and adolescents. It is characterized by the presence of chronic inflammatory features.|NCI|N|
C5417748|Thrombotic microangiopathy that presents in some patients undergoing hematopoietic stem cell transplantation (HSCT). Though similar in presentation to thrombotic thrombocytopenic purpura (TTP) and atypical hemolytic uremic syndrome (aHUS), transplant-associated thrombotic microangiopathy (TA-TMA) is a distinct disorder. Several risk factors may be associated with TA-TMA, including high-dose chemotherapy, radiation therapy, HLA mismatch, use of calcineurin inhibitors, acute graft-versus-host disease (GVHD), and infections.|NCI|N|
C5417749|Gallbladder carcinoma that is discovered incidental to gallbladder surgery for another indication.|NCI|N|
C5417751|A gastrointestinal tract sarcoma with neuroectodermal differentiation. It is characterized by the presence of neoplastic round cells with pale eosinophilic cytoplasm. Cytoplasmic clearing is seen only in a minority of cases. Half of the cases contain osteoclastic giant cells. It is associated with gene fusion translocations involving the EWSR1 gene, usually EWSR1-ATF1 fusion or EWSR1-CREB1 fusion.|NCI|N|
C5418150|An intraductal papillary neoplasm that arises from the epithelium of the intrahepatic or extrahepatic bile ducts. It is characterized by the presence of moderate epithelial atypia.|NCI|N|
C5418184|Stage 0 includes: Tis(LAMN), N0, M0. Tis(LAMN): Low-grade appendiceal mucinous neoplasm confined by the muscularis propria. Acellular mucin or mucinous epithelium may invade into the muscularis propria. T1 and T2 are not applicable to LAMN. Acellular mucin or mucinous epithelium that extends into the subserosa or serosa should be classified as T3 or T4a, respectively. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)|NCI|N|
C5418244|Uterine corpus cancer that is resistant to treatment.|NCI|N|
C5418264|A non-neoplastic longstanding disorder of the lower respiratory system.|NCI|N|
C5418265|A non-neoplastic longstanding disorder of the respiratory system.|NCI|N|
C5418266|A disorder that is not transmissible from one person to another.|NCI|N|
C5418277|A response that it is unknown if a subsequent known primary melanoma was found during the follow-up period.|NCI|N|
C5418297|Clear cell renal cell carcinoma that has spread to nearby tissues or lymph nodes.|NCI|N|
C5418298|A mesenchymal neoplasm that arises from the skin.|NCI|N|
C5418300|The reemergence of anal squamous cell carcinoma after a period of remission.|NCI|N|
C5418301|The reemergence of acute promyelocytic leukemia with PML-RARA after a period of remission.|NCI|N|
C5418302|Periampullary adenocarcinoma that is amenable to surgical removal.|NCI|N|
C5418305|A finding of carcinoma arising from the left breast.|NCI|N|
C5418543|A change in the nucleotide sequence of the PIK3R2 gene.|NCI|N|
C5418544|A change in the nucleotide sequence of the MUTYH gene that is associated with increased risk of disease.|NCI|N|
C5418545|A change in the nucleotide sequence of the LIG3 gene.|NCI|N|
C5418546|A change in the nucleotide sequence of the LIG4 gene.|NCI|N|
C5418547|A change in the nucleotide sequence of the POLE gene that is associated with increased risk of disease.|NCI|N|
C5418548|A change in the nucleotide sequence of the INPP4A gene.|NCI|N|
C5418549|A change in the nucleotide sequence of the INPPL1 gene.|NCI|N|
C5418550|A change in the nucleotide sequence of the PIK3C2G gene.|NCI|N|
C5418551|A change in the nucleotide sequence of the XRCC6 gene.|NCI|N|
C5418552|A change in the nucleotide sequence of the MDC1 gene.|NCI|N|
C5418553|A change in the nucleotide sequence of the PIK3C3 gene.|NCI|N|
C5418554|A change in the nucleotide sequence of the CDKN2A gene that is associated with increased risk of disease.|NCI|N|
C5418555|A change in the nucleotide sequence of the POLD1 gene that is associated with increased risk of disease.|NCI|N|
C5418556|A change in the nucleotide sequence of the INPP4B gene.|NCI|N|
C5418557|A change in the nucleotide sequence of the SEM1 gene.|NCI|N|
C5418558|A change in the nucleotide sequence of the GREM1 gene.|NCI|N|
C5418559|A change in the nucleotide sequence of the GREM1 gene that is associated with increased risk of disease.|NCI|N|
C5418564|A carcinoma that arises from the pancreas, bile ducts, gallbladder, or ampulla of Vater and has spread from its original site of growth to another anatomic site.|NCI|N|
C5418565|A carcinoma that arises from the pancreas, bile ducts, gallbladder, or ampulla of Vater and has spread from its original site of growth to nearby tissues or lymph nodes.|NCI|N|
C5418566|A malignant female reproductive system neoplasm that has spread from its original site of growth to nearby tissues or lymph nodes.|NCI|N|
C5418567|Endometrial carcinoma that has spread to nearby tissues or lymph nodes.|NCI|N|
C5418568|Gallbladder carcinoma that has spread to nearby tissues or lymph nodes.|NCI|N|
C5418569|A term that refers to the decrease in the cancer size and extend of metastases, and/or lymph node involvement by cancer, to a lower (less extensive) stage.|NCI|N|
C5418570|Skin squamous cell carcinoma that is amenable to surgical resection.|NCI|N|
C5418571|Skin carcinoma that is amenable to surgical resection.|NCI|N|
C5418572|A malignant neoplasm that arises from the head and neck region and has spread to another anatomic site.|NCI|N|
C5418573|A malignant neoplasm that arises from the head and neck region and has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5418574|A malignant neoplasm that arises from the head and neck region and has spread from its original site of growth to nearby tissues or lymph nodes.|NCI|N|
C5418575|A rare atypical lipomatous tumor/well differentiated liposarcoma arising from the skin.|NCI|N|
C5418576|A spindle cell/pleomorphic lipoma arising from the skin.|NCI|N|
C5418577|A spindle cell lipoma arising from the skin.|NCI|N|
C5418578|A pleomorphic lipoma arising from the skin.|NCI|N|
C5418579|A change in the nucleotide sequence of the PRKD2 gene.|NCI|N|
C5418580|An angiolipoma arising from the skin.|NCI|N|
C5418594|An indication or description that the performed test or observation was done at a time that was not preplanned.|NCI|N|
C5418595|Cervical carcinoma that is resistant to treatment.|NCI|N|
C5418596|Anal carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5418597|Thyroid gland carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5418624|An indication as to whether data generated by the device is blinded.|NCI|N|
C5418627|An indication as to whether the death event was witnessed by another individual.|NCI|N|
C5418650|The most recent occurrence of a disease flare.|NCI|N|
C5418652|The subject or parent/guardian withdraws their consent for the subject to participate in certain protocol-specified study activities, but does not withdraw consent from participation in the study as a whole.|NCI|N|
C5418671|A finding that generally has features of congestion and hemorrhage.|NCI|N|
C5418672|A finding that generally has features of hyperplasia and hyperkeratosis.|NCI|N|
C5418754|A neoplasm that arises from the periampullary region and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C5418755|The reemergence of a malignant breast neoplasm after a period of remission.|NCI|N|
C5418756|A malignant breast neoplasm that has metastasized to another anatomic site.|NCI|N|
C5418758|A genetically heterogenous group of disorders characterized by loss of bone tissue.|NCI|N|
C5418759|A rare adenocarcinoma that arises from the lining of the peritoneum.|NCI|N|
C5418760|An appendiceal neoplasm characterized by mucinous epithelial proliferation with extracellular mucin and pushing tumour margins. (WHO 2019)|NCI|N|
C5418761|A molecular abnormality indicating rearrangement of the USP6 gene.|NCI|N|
C5418763|A cytogenetic abnormality that refers to a translocation involving the chromosome band 11q12.|NCI|N|
C5418764|A molecular abnormality indicating the presence of an abnormally high level of the Fos-related antigen 1 (FOSL1) protein.|NCI|N|
C5418767|The reemergence of platinum-resistant ovarian carcinoma after a period of remission.|NCI|N|
C5418768|The reemergence of platinum-resistant fallopian tube carcinoma after a period of remission.|NCI|N|
C5418769|The reemergence of platinum-resistant primary peritoneal carcinoma after a period of remission.|NCI|N|
C5418771|The reemergence of ovarian undifferentiated carcinoma after a period of remission.|NCI|N|
C5418772|The reemergence of fallopian tube undifferentiated carcinoma after a period of remission.|NCI|N|
C5418773|The reemergence of primary peritoneal undifferentiated carcinoma after a period of remission.|NCI|N|
C5418774|The reemergence of fallopian tube transitional cell carcinoma after a period of remission.|NCI|N|
C5418775|The reemergence of primary peritoneal transitional cell carcinoma after a period of remission.|NCI|N|
C5418776|The reemergence of fallopian tube clear cell adenocarcinoma after a period of remission.|NCI|N|
C5418778|The reemergence of fallopian tube adenocarcinoma after a period of remission.|NCI|N|
C5418779|The reemergence of primary peritoneal adenocarcinoma after a period of remission.|NCI|N|
C5418781|An infiltrating urothelial carcinoma of the bladder that has not invaded into the bladder muscularis propria.|NCI|N|
C5418782|The reemergence of non-muscle invasive bladder urothelial carcinoma after a period of remission.|NCI|N|
C5418783|Squamous cell carcinoma arising from the upper or lower alveolar ridge.|NCI|N|
C5418784|Squamous cell carcinoma arising from the upper alveolar ridge.|NCI|N|
C5418785|Squamous cell carcinoma arising from the lower alveolar ridge.|NCI|N|
C5418786|Rectal carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5418787|Rectal carcinoma that has spread to nearby tissues or lymph nodes.|NCI|N|
C5418788|Rectal squamous cell carcinoma that has spread from the original site of growth to other anatomic sites.|NCI|N|
C5418789|Rectal squamous cell carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5418790|Rectal squamous cell carcinoma that has spread to nearby tissues or lymph nodes.|NCI|N|
C5418791|Oropharyngeal carcinoma that has spread to nearby tissues or lymph nodes.|NCI|N|
C5418792|Oropharyngeal carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5418793|Pharyngeal carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5418794|Vulvar carcinoma that has spread to nearby tissues or lymph nodes.|NCI|N|
C5418795|Vulvar carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5418796|Vaginal carcinoma that has spread to nearby tissues or lymph nodes.|NCI|N|
C5418797|Vaginal carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5418798|Penile carcinoma that has spread to nearby tissues or lymph nodes.|NCI|N|
C5418799|Penile carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5418801|A history of a first-degree relative that has been diagnosed with a high-risk germline mutation.|NCI|N|
C5418807|A finding based on the classification used to quantify the risk for a coronary artery aneurysm in Kawasaki disease patients.|NCI|N|
C5418808|An endometrial serous adenocarcinoma that has spread to other anatomic sites.|NCI|N|
C5418809|Endometrial adenocarcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5418810|An endometrial endometrioid adenocarcinoma that has spread to other anatomic sites.|NCI|N|
C5418811|Endometrial serous adenocarcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5418812|Endometrial endometrioid adenocarcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5418813|A malignant neoplasm of the skin that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5418815|Malignant mastocytosis that is resistant to treatment.|NCI|N|
C5418816|The reemergence of malignant mastocytosis after a period of remission.|NCI|N|
C5418823|A desmoplastic small round cell tumor that is not amenable to surgical resection.|NCI|N|
C5418824|A desmoplastic small round cell tumor that has spread from the original site of growth to another anatomic site.|NCI|N|
C5418825|A rhabdoid tumor that has spread from the original site of growth to another anatomic site.|NCI|N|
C5418826|A rhabdoid tumor that is not amenable to surgical resection.|NCI|N|
C5418827|The reemergence of an extracranial malignant solid neoplasm after a period of remission.|NCI|N|
C5418828|Thyroid gland anaplastic carcinoma that has spread from the original site of growth to another anatomic site.|NCI|N|
C5418829|Thyroid gland anaplastic carcinoma that is not amenable to surgical resection.|NCI|N|
C5418862|Accumulation of an excessive amount of watery fluid in cells or intercellular tissues of the hands and feet.|NCI|N|
C5418864|A cytogenetic abnormality that refers to the translocation of the short arm (p21-22) of chromosome 7 and the long arm (q13-15) of chromosome 12. It results in the formation of ACTB/GLI1 fusion gene.|NCI|N|
C5418872|Colon carcinoma that has spread to nearby tissues or lymph nodes.|NCI|N|
C5418873|A myeloproliferative neoplasm that does not respond to treatment.|NCI|N|
C5418878|Carcinosarcoma that has spread from its original site of growth to another anatomic site.|NCI|N|
C5418879|The intensity of the chief complaint perceived by the patient as rated using a verbal scale from 0 to 10.|NCI|N|
C5418880|The intensity of the chief complaint perceived by the patient as rated using the Wong-Baker Scale (Wong DL, Baker CM. Pain in children: comparison of assessment scales. Pediatr Nurs. 1988;14:9-17).|NCI|N|
C5418881|The intensity of the chief complaint perceived by the patient as rated using the Facial expression, Leg movement, Activity, Cry, and Consolability (FLACC) scale (Merkel SI, Voepel-Lewis T, Shayevitz JR, et al. The FLACC: a behavioral scale for scoring postoperative pain in young children. Pediatr Nurs. 1997;23:293-722).|NCI|N|
C5418882|Carcinosarcoma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5418883|A malignant mixed mesodermal (Mullerian) tumor that has spread from its original site of growth to another anatomic site.|NCI|N|
C5418884|A malignant mixed mesodermal (Mullerian) tumor that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5418885|Uterine corpus carcinosarcoma that has spread from its original site of growth to another anatomic site.|NCI|N|
C5418887|Ovarian carcinosarcoma that has spread from its original site of growth to another anatomic site.|NCI|N|
C5418888|Ovarian carcinosarcoma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5418889|Ovarian serous adenocarcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5418890|Ovarian endometrioid adenocarcinoma that has spread from its original site of growth to another anatomic site.|NCI|N|
C5418891|Ovarian endometrioid adenocarcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5418892|Ovarian clear cell adenocarcinoma that has spread from its original site of growth to another anatomic site.|NCI|N|
C5418893|Ovarian clear cell adenocarcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5418898|Chondrosarcoma that has spread to nearby tissues or lymph nodes.|NCI|N|
C5418899|The reemergence of a mucosal melanoma after a period of remission.|NCI|N|
C5418900|A malignant germ cell tumor that is resistant to platinum therapy.|NCI|N|
C5418901|A platinum-resistant malignant germ cell tumor that is amenable to surgical resection.|NCI|N|
C5418902|A platinum-resistant malignant germ cell tumor that has spread from its original site of growth to another anatomic site.|NCI|N|
C5418903|A platinum-resistant malignant germ cell tumor that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5418904|An adenocarcinoma of unknown primary that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5418905|A carcinoma of unknown primary that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5418906|A carcinoma of unknown primary that is amenable to surgical resection.|NCI|N|
C5418907|An adenocarcinoma of unknown primary that is amenable to surgical resection.|NCI|N|
C5418908|A malignant female reproductive system neoplasm that is amenable to surgical resection.|NCI|N|
C5418909|Thyroid gland carcinoma that has spread from its original site of growth to nearby tissues or lymph nodes.|NCI|N|
C5418910|A malignant neoplasm that arises from the central nervous system and has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5418911|A malignant germ cell tumor that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5418912|Fallopian tube carcinoma that is not amenable to surgical resection.|NCI|N|
C5418913|Fallopian tube adenocarcinoma that is not amenable to surgical resection.|NCI|N|
C5418914|Fallopian tube adenocarcinoma that is resistant to treatment.|NCI|N|
C5418915|Primary peritoneal adenocarcinoma that has spread from its original site of growth to another anatomic site.|NCI|N|
C5418916|Primary peritoneal carcinoma that is not amenable to surgical resection.|NCI|N|
C5418917|Primary peritoneal adenocarcinoma that is not amenable to surgical resection.|NCI|N|
C5418918|Primary peritoneal adenocarcinoma that is resistant to treatment.|NCI|N|
C5418920|An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the colon. It is characterized by the presence of malignant large cells.|NCI|N|
C5418921|Glioblastoma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5418922|Glioblastoma that has spread from its original site of growth to another anatomic site.|NCI|N|
C5418923|Glioblastoma that has spread from its original site of growth to nearby tissues.|NCI|N|
C5418932|An indication as to whether a non-study treatment was given because of the occurrence of the event.|NCI|N|
C5418942|An indication as to whether a prespecified event or intervention has occurred.|NCI|N|
C5418944|An indication as to whether a biospecimen is suitable for testing purposes.|NCI|N|
C5418951|A gliosarcoma arising from the supratentorial region.|NCI|N|
C5418952|The reemergence of triple-negative breast carcinoma after a period of remission.|NCI|N|
C5418953|Ovarian serous adenocarcinoma that is resistant to treatment.|NCI|N|
C5418954|Fallopian tube high-grade serous adenocarcinoma that has spread from its original site of growth to other anatomic sites.|NCI|N|
C5418955|Fallopian tube high-grade serous adenocarcinoma that is not amenable to surgical resection.|NCI|N|
C5418957|Primary peritoneal serous adenocarcinoma that has spread from its original site of growth to another anatomic site.|NCI|N|
C5418958|Primary peritoneal serous adenocarcinoma that is not amenable to surgical resection.|NCI|N|
C5418959|Primary peritoneal serous adenocarcinoma that is resistant to treatment.|NCI|N|
C5418961|A squamous cell carcinoma associated with human papilloma virus, arising from the mucosal sites of head and neck.|NCI|N|
C5418962|A soft tissue angiosarcoma arising from the internal organs.|NCI|N|
C5418965|A small cell carcinoma, pulmonary-type or large cell neuroendocrine carcinoma arising from the ovary.|NCI|N|
C5418967|An anaplastic astrocytoma occurring in the parietal lobe.|NCI|N|
C5418968|Non-Hodgkin lymphoma arising from the mediastinum.|NCI|N|
C5418973|A molecular abnormality indicating cytogenetic rearrangement involving an NTRK family gene.|NCI|N|
C5418976|A nucleotide substitution at position 3920 of the coding sequence of the APC gene where adenine has been mutated to thymine.|NCI|N|
C5418977|A change in the amino acid residue at position 1307 in the adenomatosis polyposis coli protein where isoleucine has been replaced by lysine.|NCI|N|
C5418979|An irregularity in the structure of the short arm of chromosome 17.|NCI|N|
C5418980|An irregularity in the structure of chromosome 12.|NCI|N|
C5418981|An irregularity in the structure of the long arm of chromosome 13.|NCI|N|
C5418982|A finding indicating the involvement of the central nervous system in a patient with recurrence of B acute lymphoblastic leukemia.|NCI|N|
C5418984|A finding indicating that a significantly lower than expected activity for the proteinase a disintegrin and metalloproteinase with thrombospondin motifs 13 (ADAMTS13) is detected in a sample. This finding is associated with thrombotic thrombocytopenic purpura.|NCI|N|
C5418987|A semiquantitative finding indicating that the amount of immature mononuclear cells in a subject''s sample of nucleated cells from bone marrow has decreased by between 5 and 25 percent from a previous percentage recorded for a sample from that subject.|NCI|N|
C5418988|Hairy cell leukemia variant that is resistant to treatment.|NCI|N|
C5418989|The reemergence of hairy cell leukemia variant after a period of remission.|NCI|N|
C5418992|Primary central chondrosarcoma that is not amenable to surgical resection.|NCI|N|
C5418993|A change in the nucleotide sequence of the BAP1 gene that is associated with increased risk of disease.|NCI|N|
C5418994|Primary central chondrosarcoma that has spread from its original site of growth to other anatomic sites.|NCI|N|
C5418995|A change in the nucleotide sequence of the ARID1A gene that is associated with increased risk of disease.|NCI|N|
C5418997|A change in the sequence of the BRAF gene that results in increased sensitivity to BRAF targeting agents.|NCI|N|
C5418998|A change in the sequence of the ROS1 gene that results in increased sensitivity to ROS1 targeting agents.|NCI|N|
C5419000|The status of a patient or subject with regard to their health or a medical procedure.|NCI|N|
C5419002|The status of any thing that has been produced.|NCI|N|
C5419003|The status of a person at a given time.|NCI|N|
C5419009|An infection caused by human papillomavirus 16. HPV16 infection is associated with a risk for cervical cancer.|NCI|N|
C5419010|The status of a study or trial.|NCI|N|
C5419011|A non-neoplastic disorder that affects the endocrine pancreas.|NCI|N|
C5419016|A laboratory test result indicating an abnormal increase in the number of lymphocytes in a sample from a subject with a tumor.|NCI|N|
C5419019|Ann Arbor Stage II diffuse large B-cell lymphoma with a mass of nodes with one diameter more than 10cm or a mediastinal mass larger than one third of the transthoracic width. (Cotswolds modification)|NCI|N|
C5419020|Ann Arbor Stage II non-Hodgkin lymphoma with a mass of nodes with one diameter more than 10cm or a mediastinal mass larger than one third of the transthoracic width. (Cotswolds modification)|NCI|N|
C5419021|The status of a study with regard to enrollment.|NCI|N|
C5419022|The status of a study with regard to accrual.|NCI|N|
C5419026|Extraskeletal myxoid chondrosarcoma that does not respond to treatment.|NCI|N|
C5419027|An extrarenal rhabdoid tumor affecting the ovary.|NCI|N|
C5419028|The reemergence of extrarenal rhabdoid tumor of the ovary after a period of remission.|NCI|N|
C5419029|An extrarenal rhabdoid tumor of the ovary that is resistant to treatment.|NCI|N|
C5419030|The continued use of cannabis despite impairment in psychological, physical, and/or social functioning.|NCI|N|
C5419032|The nucleotide sequence of a genomic variation that was identified by nucleic acid sequencing.|NCI|N|
C5419041|The condition for an electronic file relative to the current data or file processing step.|NCI|N|
C5419044|A detrimental or unintended response associated with the use of a systemic antibiotic.|NCI|N|
C5419046|A problem affecting a patient based on their work, work environment or employment status.|NCI|N|
C5419047|A problem affecting a patient based on their living arrangements or income stability.|NCI|N|
C5419048|The condition of a transplanted organ or tissue other than a kidney, heart, lung, heart and lungs, liver, skin, bone, or corneal transplant.|NCI|N|
C5419049|An individual history of a neoplasm of the lymphatic and hematopoietic system.|NCI|N|
C5419050|A history of a first-degree family member with cancer of a respiratory or intrathoracic organ.|NCI|N|
C5419051|A history of a first-degree family member with a neoplasm of the lymphatic and hematopoietic system.|NCI|N|
C5419057|The non-canonical amino acid sequence encoded by a genomic nucleotide variation.|NCI|N|
C5419059|Diffuse large B-cell lymphoma that has spread extensively to distant anatomic sites or is no longer responding to treatment.|NCI|N|
C5419060|Prostate carcinoma that has metastasized to a limited number of sites.|NCI|N|
C5419066|Specifies the type of nucleic acid (DNA, RNA, Pooled, etc.) found in a sample.|NCI|N|
C5419068|Oral cavity carcinoma that has spread from its original site of growth to nearby tissues or lymph nodes.|NCI|N|
C5419071|A malignant neoplasm of the skin that has spread from its original site of growth to nearby tissues or lymph nodes.|NCI|N|
C5419072|Cutaneous melanoma that has spread from its original site of growth to nearby tissues or lymph nodes.|NCI|N|
C5419073|The reemergence of lung squamous non-small cell carcinoma after a period of remission.|NCI|N|
C5419074|The reemergence of ocular melanoma after a period of remission.|NCI|N|
C5419075|Ocular melanoma that has spread from its original site of growth to nearby tissues.|NCI|N|
C5419076|Non-cutaneous melanoma that has spread from its original site of growth to nearby tissues or lymph nodes.|NCI|N|
C5419077|Liver carcinoma that has spread from its original site of growth to nearby tissues or lymph nodes.|NCI|N|
C5419078|A B-cell non-Hodgkin lymphoma with an indolent clinical course. Representative examples include grade 1 and grade 2 follicular lymphoma, marginal zone lymphoma, and lymphoplasmacytic lymphoma.|NCI|N|
C5419079|Myxofibrosarcoma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5419080|Fibrosarcoma that has spread from its original site of growth to nearby tissues or lymph nodes.|NCI|N|
C5419081|Bile duct carcinoma that is not amenable to surgical resection.|NCI|N|
C5419083|Carcinoma that arises from the ampulla of Vater and has spread to another anatomic site.|NCI|N|
C5419084|Carcinoma that arises from the ampulla of Vater and has spread to nearby tissues or lymph nodes.|NCI|N|
C5419085|Carcinoma that arises from the ampulla of Vater and has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5419086|A carcinoma that arises from the pancreas, bile ducts, gallbladder, or ampulla of Vater and has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5419091|A myelodysplastic/myeloproliferative neoplasm that is resistant to treatment.|NCI|N|
C5419092|Primary myelofibrosis that is resistant to treatment.|NCI|N|
C5419113|Synovial sarcoma that has spread from its original site of growth to nearby tissues or lymph nodes.|NCI|N|
C5419126|Specifies whether treatment was administered to a subject at a study site.|NCI|N|
C5419128|Specifies whether a sample was derived from a primary tumor versus a metastatic lesion.|NCI|N|
C5419132|An indication as to whether the subject''s chronological age matches their physical, emotional, social, and cognitive functioning.|NCI|N|
C5419136|An indication as to whether the study disruption was caused by the epidemic or pandemic.|NCI|N|
C5419139|A disease finding indicating that there is reasonable likelihood that death will occur within a matter of months or premature death is likely without early treatment. (After 21 CFR 312.300)|NCI|N|
C5419140|An indication as to whether infiltrates have occurred.|NCI|N|
C5419141|An indication as to whether the subject is less than one year of age.|NCI|N|
C5419146|An indication as to whether pneumonia has occurred.|NCI|N|
C5419154|Signature attained that confirms material was shipped to and received by the subject.|NCI|N|
C5419158|Cushing syndrome that is caused by excessive production of cortisol by the adrenal gland.|NCI|N|
C5419159|The reemergence of endogenous Cushing syndrome after a period of remission.|NCI|N|
C5419161|An infection caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) and is asymptomatic at the time of testing.|NCI|N|
C5419162|An infection caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) and is symptomatic at the time of testing.|NCI|N|
C5419163|Pneumonia caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). It is characterized by the presence of ground glass opacities on CT scan images.|NCI|N|
C5419164|Acute respiratory distress syndrome caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2).|NCI|N|
C5419165|A central or peripheral nervous system disorder caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2).|NCI|N|
C5419166|Encephalitis caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2).|NCI|N|
C5419167|Acute hemorrhagic necrotizing encephalitis caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2).|NCI|N|
C5419168|Ataxia caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2).|NCI|N|
C5419169|Trigeminal neuralgia caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2).|NCI|N|
C5419170|A non-neoplastic disorder affecting the trigeminal nerve.|NCI|N|
C5419171|Anosmia caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2).|NCI|N|
C5419172|Cerebrovascular accident caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2).|NCI|N|
C5419173|Myalgia caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2).|NCI|N|
C5419174|Coagulation disorder caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2).|NCI|N|
C5419175|Thromboembolism caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2).|NCI|N|
C5419181|Hematuria caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2).|NCI|N|
C5419182|Albuminuria caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2).|NCI|N|
C5419183|A finding indicating that an individual has been exposed to severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2).|NCI|N|
C5419184|Cutaneous melanoma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5419185|Cutaneous squamous cell carcinoma of the head and neck that has spread from the original site of growth to another anatomic site.|NCI|N|
C5419186|Cutaneous squamous cell carcinoma of the head and neck that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5419187|Cutaneous squamous cell carcinoma of the head and neck that does not respond to treatment.|NCI|N|
C5419188|Chromophobe renal cell carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5419189|Chromophobe renal cell carcinoma that has spread from the original site of growth to another anatomic site.|NCI|N|
C5419190|Sarcomatoid renal cell carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5419191|Unclassified renal cell carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5419192|Unclassified renal cell carcinoma that has spread from the original site of growth to another anatomic site.|NCI|N|
C5419194|Colorectal adenocarcinoma that is not amenable to surgical resection.|NCI|N|
C5419203|Esophageal carcinoma that is resistant to treatment.|NCI|N|
C5419204|Squamous cell carcinoma that is resistant to treatment.|NCI|N|
C5419205|Esophageal squamous cell carcinoma that is resistant to treatment.|NCI|N|
C5419206|Esophageal squamous cell carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment|NCI|N|
C5419207|Esophageal squamous cell carcinoma that is not amenable to surgical resection.|NCI|N|
C5419208|Lung non-small cell squamous carcinoma that is resistant to treatment.|NCI|N|
C5419209|Endometrial carcinoma that is not amenable to surgical resection.|NCI|N|
C5419210|Prostate carcinoma that is not amenable to surgical resection.|NCI|N|
C5419211|Lung non-small cell squamous carcinoma that is not amenable to surgical resection.|NCI|N|
C5419212|A finding indicating that an individual has a history of COVID-19.|NCI|N|
C5419216|The presence of mutations in only one allele of the MUTYH gene.|NCI|N|
C5419218|A cytogenic abnormality that refers to any loss of genetic material from the long arm of chromosome 5 that includes the band at 5q31.|NCI|N|
C5419219|A cytogenetic abnormality indicating the presence of rearrangement involving the short arm segment p15 of chromosome 11.|NCI|N|
C5419220|A cytogenetic abnormality indicating the presence of rearrangement involving the short arm segment p12.3 of chromosome 12.|NCI|N|
C5419232|A nucleotide substitution at position 2413 of the coding sequence of the ERBB2 gene where thymine has been mutated to adenine.|NCI|N|
C5419234|A change in the amino acid residue at position 805 in the receptor tyrosine-protein kinase erbB-2 protein where cysteine has been replaced by serine.|NCI|N|
C5419374|Use of an additional or alternative device required to achieve optimal outcome.|NCI|N|
C5419375|Patient required additional medication or additional dose of existing medication.|NCI|N|
C5419377|The parts, components, or sub-assemblies are not adequately described by any other term.|NCI|N|
C5419378|There is no appropriate Health Impact term or code.|NCI|N|
C5419379|A problem with the blood or lymphatic system.|NCI|N|
C5419384|Patient required a corrective invasive procedure in which a device was repositioned.|NCI|N|
C5419385|Patient required a corrective invasive procedure in which a device was replaced/revised.|NCI|N|
C5419387|The presence of two distinct capsular layers around an implant with an intercapsular space of the breast.|NCI|N|
C5419388|A non-specific problem with the ear or labyrinth.|NCI|N|
C5419392|Use of the device has lead to worsening of the existing disease or condition.|NCI|N|
C5419393|Pain that is associated with an external artificial replacement device.|NCI|N|
C5419394|Fetal distress, congenital physical or mental impairment or birth defect, excluding fetal death.|NCI|N|
C5419397|A non-specific problem with the liver or biliary system.|NCI|N|
C5419398|Hospitalization or prolonged hospitalization due to the health damage accompanying the use of device.|NCI|N|
C5419400|Pain localized to the site of the implanted device.|NCI|N|
C5419401|Patient did not receive intended treatment from a device or received inadequate treatment as a consequence of device performance.|NCI|N|
C5419402|Degenerative, pathological or traumatic changes in the cartilaginous tissue of the spine leading to unwanted compression or protrusion of the disc.|NCI|N|
C5419403|Patient suffered an illness or injury which if not treated would be fatal.|NCI|N|
C5419405|A mild injury, illness or impairment which can be treated with minimal or no intervention.|NCI|N|
C5419409|Patient treatment was absent as a consequence of device performance.|NCI|N|
C5419410|The device does not have distinct parts, components, or sub-assemblies, or it would not be appropriate to link the reported incident to a single part, component, or sub-assembly.|NCI|N|
C5419411|Irreversible deterioration of the state of health.|NCI|N|
C5419412|Lack or absence of balanced proportions between parts or organs of the body.|NCI|N|
C5419414|Pregnancy occurred despite using a contraceptive device.|NCI|N|
C5419415|Clinically significant extended treatment time or procedural time.|NCI|N|
C5419416|Any local or systemic adverse reaction to the medicinal component of a combination product.|NCI|N|
C5419417|Patient experiencing a complication that is well documented in association with the device or procedure.|NCI|N|
C5419418|Decrease in lifetime/ lifespan of an individual. Decline in the normal duration or in average life.|NCI|N|
C5419419|A non-specific problem with the breasts or reproductive system.|NCI|N|
C5419420|A severe injury, illness or impairment which requires hospitalization or medical intervention.|NCI|N|
C5419421|Any event type, which results in imminent risk of death, serious injury, or serious illness to more than one individual, that requires prompt remedial action.|NCI|N|
C5419423|Conditions characterized by an alteration in the ability to perceive touch.|NCI|N|
C5419424|Reversible deterioration of the state of health.|NCI|N|
C5419425|Device is thickened due to deformation.|NCI|N|
C5419427|Complication occurring in the patient that had not previously been identified or expected for this device.|NCI|N|
C5419428|Unexpected clinical deterioration of patient.|NCI|N|
C5419433|A unspecified problem with the eye(s) or vision.|NCI|N|
C5419434|An unspecified mental, emotional or behavioral problem.|NCI|N|
C5419441|A bacterial infection that is resistant to antibiotics and antimicrobials.|NCI|N|
C5419443|The clinical signs, symptoms and conditions are not adequately described by any other term.|NCI|N|
C5419444|Color of product is different from that expected.|NCI|N|
C5419445|Erroneous/discrepant results which combine high/low and/or positive/negative results.|NCI|N|
C5419446|Problem associated with the inability to deflate a device which is intended to deflate.|NCI|N|
C5419447|Problem associated with the unintended deflation of a device which was not designed to deflate or not at that point in time or not to that extent.|NCI|N|
C5419448|Problem associated with air in the device (e.g. air in line).|NCI|N|
C5419449|Problem associated with a device not responding to key or button inputs.|NCI|N|
C5419450|Problem associated with the presence of any unexpected foreign substance found on the surface or in the package materials, which may affect optimal performance for its intended use, and which occurred at the user facility.|NCI|N|
C5419451|Transitional cell carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5419457|A number between 0-100, based on the results of Oncotype DX breast cancer assay, that assesses the 9-year risk of distant recurrence in node-negative patients, 5-year distant recurrence or mortality in node-positive patients, and the likelihood that chemotherapy will benefit the patient.|NCI|N|
C5419463|Inflammatory chilblain-like nodules on the feet and/or toes.|HPO|N|
C5419464|An acute myeloid leukemia developing in patients with a prior history of myeloproliferative neoplasm.|NCI|N|
C5419465|An acute myeloid leukemia developing in patients with a prior history of myelodysplastic/myeloproliferative neoplasm.|NCI|N|
C5419466|The reemergence of a myeloid neoplasm after a period of remission.|NCI|N|
C5419467|The reemergence of a malignant lymphoid neoplasm after a period of remission.|NCI|N|
C5419476|Exposure to an individual that lives in the same residence and that has tested positive for severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2).|NCI|N|
C5419477|Exposure to an individual that does not live in the same residence but has tested positive for severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2).|NCI|N|
C5419478|Exposure in a local area, outside of a hospital setting, where individuals with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection (COVID-19) have been reported.|NCI|N|
C5419480|A drug accumulation of 1.2 to 1.99. It is associated with weak risk of toxic drug accumulation.|NCI|N|
C5419484|Skin manifestations of acute graft versus host disease, which typically presents as an erythematous maculopapular rash involving the face, ears, palms, and soles that may spread to the trunk and evolve to erythroderma.|NCI|N|
C5419506|A malignant neoplasm that is positive for progesterone receptors.|NCI|N|
C5419511|Benign vascular proliferations following external radiation for breast carcinoma. The lesions arise from the radiated skin and are papules, small vesicles, or erythematous ecchymotic plaques with prominent telangiectasias. There is an increased risk for subsequent development of angiosarcoma.|NCI|N|
C5419513|Papillary renal cell carcinoma that has spread to nearby tissues or lymph nodes.|NCI|N|
C5419514|Sarcomatoid renal cell carcinoma that has spread to nearby tissues or lymph nodes.|NCI|N|
C5419515|An indication that cancer cells have migrated from the primary tumor site and have been detected in adjacent tissues and/or regional lymph nodes.|NCI|N|
C5419516|An indication that cancer cells have migrated from the primary tumor site and have been detected in adjacent tissues and/or regional lymph nodes.|NCI|N|
C5419517|Unclassified renal cell carcinoma that has spread to nearby tissues or lymph nodes.|NCI|N|
C5419518|An indication that cancer cells have migrated and spread to one or more organs that are distant from the primary tumor site.|NCI|N|
C5419519|An indication that cancer cells have been detected in one, two or three lymph nodes.|NCI|N|
C5419520|Esophageal adenocarcinoma that has spread to nearby tissues or lymph nodes.|NCI|N|
C5419522|An indication that a variant in a BRCA family gene has been identified in a family member of a subject.|NCI|N|
C5419526|Ovarian undifferentiated carcinoma that has spread from its original site of growth to another anatomic site.|NCI|N|
C5419527|Ovarian undifferentiated carcinoma that is not amenable to surgical resection.|NCI|N|
C5419533|Distal bile duct adenocarcinoma that is not amenable to surgical resection.|NCI|N|
C5419534|Distal bile duct adenocarcinoma that has spread from its original site of growth to another anatomic site.|NCI|N|
C5419537|Pancreatic ductal adenocarcinoma that is not amenable to surgical resection.|NCI|N|
C5419539|Uveal melanoma that is not amenable to surgical resection.|NCI|N|
C5419540|Distal esophagus adenocarcinoma that is not amenable to surgical resection.|NCI|N|
C5419543|Intrahepatic cholangiocarcinoma that has spread from its original site of growth to another anatomic site.|NCI|N|
C5419560|Renal pelvis and ureter urothelial carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5419561|Renal pelvis carcinoma that has spread from its original site of growth to nearby tissues or lymph nodes.|NCI|N|
C5419562|Renal pelvis urothelial carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5419563|A malignant lymphoid neoplasm that does not respond to treatment.|NCI|N|
C5419564|A myeloid neoplasm that does not respond to treatment.|NCI|N|
C5419565|Chronic lymphocytic leukemia/small lymphocytic lymphoma that does not respond to treatment.|NCI|N|
C5419566|A response indicating that an individual feels or felt that taking their medicine on time was easy.|NCI|N|
C5419567|A response indicating that an individual feels or felt that asking the pharmacist questions about their medicine was easy.|NCI|N|
C5419568|A response indicating that an individual feels or felt that understanding the pharmacist''s instructions about their medicine was easy.|NCI|N|
C5419569|A response indicating that an individual feels or felt that understanding the instructions on their medicine bottles was easy.|NCI|N|
C5419570|A response indicating that an individual feels or felt that getting all of the information they needed about their medicine was easy.|NCI|N|
C5419571|The reemergence of a plasma cell neoplasm after a period of remission.|NCI|N|
C5419572|A response indicating that an individual feels or felt that remembering to take all their medicines was easy.|NCI|N|
C5419573|A response indicating that an individual feels or felt that setting a schedule to take their medicine each day was easy.|NCI|N|
C5419574|A response indicating that an individual feels or felt that taking their medicine every day was easy.|NCI|N|
C5419579|An allergic reaction triggered by exposure to airborne allergens expressed by dust mites or molds.|NCI|N|
C5419580|An allergic reaction triggered by exposure to ant venom, usually as a result of being bitten by a fire ant (Solenopsis spp.).|NCI|N|
C5419581|Grade 1 follicular lymphoma that is resistant to treatment.|NCI|N|
C5419582|Grade 2 follicular lymphoma that is resistant to treatment.|NCI|N|
C5419583|Grade 3 follicular lymphoma that is resistant to treatment.|NCI|N|
C5419584|Grade 3a follicular lymphoma that is resistant to treatment.|NCI|N|
C5419585|Grade 3b follicular lymphoma that is resistant to treatment.|NCI|N|
C5419587|The reemergence of grade 3b follicular lymphoma after a period of remission.|NCI|N|
C5419588|A condition of the CDISC standard document indicating its relative position in relation to other documents and/or activities, especially in regard to document processing.|NCI|N|
C5419593|A mutation in the RPA1 gene that is associated with an increased risk of disease.|NCI|N|
C5419594|A mutation in the SEM1 gene that is associated with an increased risk of disease.|NCI|N|
C5419595|A mutation in the XRCC2 gene that is associated with an increased risk of disease.|NCI|N|
C5419596|The presence of nucleotide sequence changes in both alleles of the MUTYH gene that are associated with increased risk of disease.|NCI|N|
C5419597|A genetic finding indicating that DNA methylation in the promoter region of a gene involved in DNA mismatch repair has been detected in a sample.|NCI|N|
C5419600|A mutation in the NF1 gene that is associated with an increased risk of disease.|NCI|N|
C5419601|A mutation in the NF2 gene that is associated with an increased risk of disease.|NCI|N|
C5419602|A mutation in the PIK3R1 gene that is associated with an increased risk of disease.|NCI|N|
C5419603|A mutation in the TSC1 gene that is associated with an increased risk of disease.|NCI|N|
C5419604|A mutation in the TSC2 gene that is associated with an increased risk of disease.|NCI|N|
C5419605|Esophageal squamous cell carcinoma that has spread from its original site of growth to nearby tissues or lymph nodes.|NCI|N|
C5419606|Follicular lymphoma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5419607|Marginal zone lymphoma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5419608|Transformed non-Hodgkin lymphoma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5419609|Basal cell carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5419611|A mutation or cytogenetic abnormality that involves the distal promoter element in the 5'' regulatory region of the APC gene on chromosome 5.|NCI|N|
C5419612|A mutation or chromosomal abnormality occurring in the gametes that involves the distal promoter element in the 5'' regulatory region of the APC gene.|NCI|N|
C5419613|A nucleotide substitution at position 1912 of the coding sequence of the DDR2 gene where adenine has been mutated to thymine.|NCI|N|
C5419614|A nucleotide substitution at position 716 of the coding sequence of the DDR2 gene where thymine has been mutated to guanine.|NCI|N|
C5419615|A nucleotide substitution at position 2304 of the coding sequence of the DDR2 gene where thymine has been mutated to adenine.|NCI|N|
C5419616|A change in the amino acid residue at position 638 in the discoidin domain-containing receptor 2 protein where isoleucine has been replaced by phenylalanine.|NCI|N|
C5419617|Non-Hodgkin lymphoma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5419618|A change in the amino acid residue at position 239 in the discoidin domain-containing receptor 2 protein where leucine has been replaced by arginine.|NCI|N|
C5419619|Hodgkin lymphoma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5419620|A change in the amino acid residue at position 768 in the discoidin domain-containing receptor 2 protein where serine has been replaced by arginine.|NCI|N|
C5419621|A mutation in the NF1 gene that is associated with an increased risk of disease and either inhibits expression or results in the translation of an inactive NF1 protein.|NCI|N|
C5419622|A change in the nucleotide sequence of the GNA11 gene that that results in constitutive activation of both guanine nucleotide-binding protein subunit alpha-11 and its downstream signaling pathways.|NCI|N|
C5419623|A change in the nucleotide sequence of the GNAQ gene that that results in constitutive activation of both guanine nucleotide-binding protein G(q) subunit alpha and its downstream signaling pathways.|NCI|N|
C5419624|A form of acute respiratory distress syndrome (ARDS) that is marked by severe hypoxemia. Based on the Berlin criteria, onset must occur within one week of a clinical insult or there must be evidence of new or worsening respiratory symptoms. Chest imaging reveals bilateral opacities consistent with pulmonary edema that are not fully explained by effusions, lobar/lung collapse, or nodules. Respiratory failure is not fully explained by heart failure or fluid overload and objective assessment, e.g. echocardiography, is required to exclude hydrostatic edema if no risk factor is present. Additionally, oxygenation as measured by a partial pressure of arterial oxygen (PaO2) to the fraction of inspired oxygen (FIO2) is equivalent to 100 mm Hg or less with positive end-expiratory pressure (PEEP) of at least 5 cm of water (Ranieri VM et al., JAMA. 2012;307(23):2526-2533). Severe ARDS may be associated with cytokine release syndrome.|NCI|N|
C5419652|A response regarding a dispruption in therapy.|NCI|N|
C5419653|A response indicating that there was a disruption in a patient''s therapy because they were too ill due to COVID-19.|NCI|N|
C5419654|A response indicating that there was a disruption in a patient''s therapy due to the risk of COVID-19 exposure to the health care staff.|NCI|N|
C5419655|A response indicating that there was a disruption in a patient''s therapy because their travel was restricted due to COVID-19.|NCI|N|
C5419656|A response indicating that there was a disruption in a patient''s therapy because they decided to change their care plan due to COVID-19.|NCI|N|
C5419657|A response indicating that there was a disruption in a patient''s therapy because their physician decided to change the patient''s care plan due to COVID-19.|NCI|N|
C5419658|A response indicating that there was a disruption in a patient''s therapy because of institutional restrictions on care due to COVID-19.|NCI|N|
C5419659|A response indicating that there was a disruption in a patient''s therapy because of a lack of institutional resources due to COVID-19.|NCI|N|
C5419660|A response indicating that there was a disruption in a patient''s therapy because of non-COVID-19-related comorbidity.|NCI|N|
C5419661|A response indicating that a patient''s disease status is unknown due to a lack of follow-up assessment due to a COVID-19 diagnosis.|NCI|N|
C5419662|A response indicating that a patient''s disease status is unknown due to COVID-19-related travel restrictions.|NCI|N|
C5419664|Primary cutaneous T-cell non-Hodgkin lymphoma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5419665|Uterine corpus cancer that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5419684|The status of a setting that enables alerts if a bolus is not delivered during a pre-specified time period.|NCI|N|
C5419708|An indication that a subject has not ever been dosed with the study treatment or investigational product.|NCI|N|
C5419709|An indication that an approved drug is available for use for the disease indication.|NCI|N|
C5419711|An indication as to whether major pathological response occurred.|NCI|N|
C5419712|An indication as to whether minor pathological response occurred.|NCI|N|
C5419731|An indication as to whether an anatomical location is the primary tumor site of disease.|NCI|N|
C5419741|Kidney carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5419742|Kidney carcinoma that has spread to nearby tissues or lymph nodes.|NCI|N|
C5419743|Kidney medullary carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5419744|A rare perineurioma arising from the skin.|NCI|N|
C5419745|The reemergence of kidney carcinoma after a period of remission.|NCI|N|
C5419746|Kidney carcinoma that is resistant to treatment.|NCI|N|
C5419747|A malignant peripheral nerve sheath tumor that arises from the skin.|NCI|N|
C5419748|An epithelioid malignant peripheral nerve sheath tumor that arises from the skin.|NCI|N|
C5419749|The reemergence of acute leukemia of ambiguous lineage after a period of remission.|NCI|N|
C5419751|Acute leukemia of ambiguous lineage that is resistant to treatment.|NCI|N|
C5419752|A rare Ewing sarcoma that arises from the skin.|NCI|N|
C5419753|A morphologic finding indicating the presence of prominent cellular granularity in a tissue sample.|NCI|N|
C5419756|A morphologic finding indicating the presence of an invasive component of carcinoma cells that measures 1 mm or less in greatest dimension.|NCI|N|
C5419757|Oral cavity squamous cell carcinoma that is not amenable to surgical resection.|NCI|N|
C5419758|Laryngeal squamous cell carcinoma that is not amenable to surgical resection.|NCI|N|
C5419759|Hypopharyngeal squamous cell carcinoma that is not amenable to surgical resection.|NCI|N|
C5419760|Nasopharyngeal squamous cell carcinoma that is not amenable to surgical resection.|NCI|N|
C5419761|Paranasal sinus squamous cell carcinoma that is not amenable to surgical resection.|NCI|N|
C5419762|Salivary gland squamous cell carcinoma that has spread from the original site of growth to another anatomic site.|NCI|N|
C5419763|The reemergence of salivary gland squamous cell carcinoma after a period of remission.|NCI|N|
C5419764|Salivary gland squamous cell carcinoma that is not amenable to surgical resection.|NCI|N|
C5419766|A morphologic finding indicating the presence of columnar cells with differentiation to chief cells and parietal cells in a gastric tissue sample.|NCI|N|
C5419768|A very rare biphasic tumor arising in the gastric muscularis propria (usually of the antrum), generally in boys and young men. It is associated with MALAT1-GLI1 gene fusion. (WHO 2019)|NCI|N|
C5419769|A well differentiated, high grade neoplasm with neuroendocrine differentiation that arises from the digestive system. The Ki-67 index is higher than 20%.|NCI|N|
C5419770|A well differentiated, high grade neoplasm with neuroendocrine differentiation that arises from the esophagus. The Ki-67 index is higher than 20%.|NCI|N|
C5419771|A well differentiated, high grade neoplasm with neuroendocrine differentiation that arises from the stomach. The Ki-67 index is higher than 20%.|NCI|N|
C5419772|A well differentiated, high grade neoplasm with neuroendocrine differentiation that arises from the small intestine. The Ki-67 index is higher than 20%.|NCI|N|
C5419773|A well differentiated, high grade neoplasm with neuroendocrine differentiation that arises from the appendix. The Ki-67 index is higher than 20%.|NCI|N|
C5419774|A well differentiated, high grade neoplasm with neuroendocrine differentiation that arises from the ileum. The Ki-67 index is higher than 20%.|NCI|N|
C5419775|A well differentiated, high grade neoplasm with neuroendocrine differentiation that arises from the jejunum. The Ki-67 index is higher than 20%.|NCI|N|
C5419776|A well differentiated, high grade neoplasm with neuroendocrine differentiation that arises from the jejunum, ileum, proximal colon, or appendix. The Ki-67 index is higher than 20%.|NCI|N|
C5419777|A well differentiated, high grade neoplasm with neuroendocrine differentiation that arises from the small or large intestine. The Ki-67 index is higher than 20%.|NCI|N|
C5419778|A well differentiated, high grade neoplasm with neuroendocrine differentiation that arises from the duodenum. The Ki-67 index is higher than 20%.|NCI|N|
C5419779|A well differentiated, high grade neoplasm with neuroendocrine differentiation that arises from the ampulla of Vater and the periampullary region. The Ki-67 index is higher than 20%.|NCI|N|
C5419783|A benign, premalignant colorectal neoplasm composed of dysplastic epithelium. The descriptor ""conventional"" distinguishes this from lesions in the serrated pathway. (WHO 2019)|NCI|N|
C5419784|A benign, premalignant colon neoplasm composed of dysplastic epithelium. The descriptor ""conventional"" distinguishes this from lesions in the serrated pathway. (WHO 2019)|NCI|N|
C5419785|A benign, premalignant rectal neoplasm composed of dysplastic epithelium. The descriptor ""conventional"" distinguishes this from lesions in the serrated pathway. (WHO 2019)|NCI|N|
C5419788|A morphologic finding indicating the presence of colorectal epithelial dysplasia secondary to inflammatory bowel disease.|NCI|N|
C5419789|A morphologic finding indicating the presence of high grade colorectal epithelial dysplasia secondary to inflammatory bowel disease.|NCI|N|
C5419790|A morphologic finding indicating the presence of low grade colorectal epithelial dysplasia secondary to inflammatory bowel disease.|NCI|N|
C5419794|An adenocarcinoma that arises from the colorectal mucosa and is characterized by the presence of isolated malignant cells or malignant cells that form small aggregates.|NCI|N|
C5419799|A well differentiated colorectal adenocarcinoma with good prognosis. It resembles a villous adenoma on the surface.|NCI|N|
C5419800|A colorectal adenocarcinoma that develops in patients with a history of inflammatory bowel disease.|NCI|N|
C5419801|A well differentiated, high grade neoplasm with neuroendocrine differentiation that arises from the colon and rectum. The Ki-67 index is higher than 20%.|NCI|N|
C5419802|A well differentiated, high grade neoplasm with neuroendocrine differentiation that arises from the colon. The Ki-67 index is higher than 20%.|NCI|N|
C5419803|A well differentiated, high grade neoplasm with neuroendocrine differentiation that arises from the rectum. The Ki-67 index is higher than 20%.|NCI|N|
C5419804|A morphologic finding indicating the presence of small clusters of tumor cells with marked nuclear anaplasia in a background of tumor cells with bland nuclear cytology.|NCI|N|
C5419805|Hepatocellular carcinoma characterized by the presence of malignant cells with smooth chromophobic cytoplasm, abrupt focal nuclear anaplasia, and scattered microscopic pseudocysts.|NCI|N|
C5419806|Hepatocellular carcinoma characterized by the presence of diffuse neutrophil infiltrates within the tumor.|NCI|N|
C5419807|Hepatocellular carcinoma measuring equal to or less than 2 cm in diameter. It includes early hepatocellular carcinoma and small progressed hepatocellular carcinoma.|NCI|N|
C5419808|A morphologic finding indicating the presence of a component of carcinoma cells that measures equal to or less than 2 cm in greatest dimension.|NCI|N|
C5419809|A well to moderately differentiated small hepatocellular carcinoma. It is characterized by the presence of obvious stromal invasion and increase atypia compared with early hepatocellular carcinoma.|NCI|N|
C5419810|A carcinoma that arises from the liver and is characterized by the presence of a malignant glandular epithelial component and a malignant neuroendocrine component. At least 30 percent of either component should be present for the diagnosis to be made.|NCI|N|
C5419811|A well differentiated, low grade neoplasm with neuroendocrine differentiation that arises from the liver. The mitotic count is less than 2 per 10 HPF.|NCI|N|
C5419812|A well differentiated, intermediate grade neoplasm with neuroendocrine differentiation that arises from the liver. The mitotic count is 2-20 per 10 HPF.|NCI|N|
C5419813|A well differentiated, high grade neoplasm with neuroendocrine differentiation that arises from the liver. The Ki-67 index is higher than 20%.|NCI|N|
C5419814|An aggressive, high-grade, and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the liver. It is characterized by the presence of malignant small cells.|NCI|N|
C5419818|An adenoma that arises from the gallbladder and is associated with intestinal-type differentiation.|NCI|N|
C5419822|A well differentiated, high grade neoplasm with neuroendocrine differentiation that arises from the gallbladder. The Ki-67 index is higher than 20%.|NCI|N|
C5419823|A well differentiated, high grade neoplasm with neuroendocrine differentiation that arises from the extrahepatic bile ducts. The Ki-67 index is higher than 20%.|NCI|N|
C5419830|A response indicating that an individual''s skin hurts.|NCI|N|
C5419831|A response indicating that an individual''s skin condition affects how well they sleep.|NCI|N|
C5419832|A response indicating that an individual worries that their skin condition may be serious.|NCI|N|
C5419833|A response indicating an individual''s skin condition makes it hard to work or do hobbies.|NCI|N|
C5419834|A response indicating an individual''s skin condition affects their social life.|NCI|N|
C5419835|A response indicating that an individual''s skin condition burns or stings.|NCI|N|
C5419836|A response indicating that an individual tends to stay at home because of their skin condition.|NCI|N|
C5419837|A response indicating that an individual worries about getting scars from their skin condition.|NCI|N|
C5419839|A response indicating that an individual''s skin condition affects how close they can be with loved ones.|NCI|N|
C5419840|A response indicating that an individual feels ashamed of their skin condition.|NCI|N|
C5419841|A response indicating that an individual worries that their skin condition may get worse.|NCI|N|
C5419842|A response indicating that an individual tends to do things alone because of their skin condition.|NCI|N|
C5419843|A response indicating that an individual is angry about their skin condition.|NCI|N|
C5419844|A response indicating that water bothers an individual''s skin condition.|NCI|N|
C5419845|A response indicating that an individual''s skin condition makes showing affection difficult.|NCI|N|
C5419846|A response indicating that an individual worries about the side-effects from skin medications and treatments.|NCI|N|
C5419847|A response indicating that an individual''s skin is irritated.|NCI|N|
C5419848|A response indicating that an individual''s skin condition affects their interactions with others.|NCI|N|
C5419849|A response indicating that an individual is embarrassed by their skin condition.|NCI|N|
C5419850|A response indicating that an individual''s skin condition is a problem for their loved ones.|NCI|N|
C5419851|A response indicating that an individual is frustrated by their skin condition.|NCI|N|
C5419852|A response indicating that an individual''s skin is sensitive.|NCI|N|
C5419853|A response indicating that an individual''s skin condition affects their desire to be with people.|NCI|N|
C5419854|A response indicating that an individual is humiliated by their skin condition.|NCI|N|
C5419855|A response indicating that an individual''s skin condition bleeds.|NCI|N|
C5419856|A response indicating that an individual is annoyed by their skin condition.|NCI|N|
C5419857|A response indicating that an individual''s skin condition interferes with their sex life.|NCI|N|
C5419858|A response indicating that an individual''s skin condition makes them tired.|NCI|N|
C5419867|Pancreatic intraepithelial neoplasia characterized by the presence of low grade epithelial dysplasia.|NCI|N|
C5419868|Biliary intraepithelial neoplasia characterized by the presence of low grade epithelial dysplasia.|NCI|N|
C5419869|Neuroendocrine carcinoma that is not amenable to surgical resection.|NCI|N|
C5419870|Digestive system mixed adenoneuroendocrine carcinoma that is not amenable to surgical resection.|NCI|N|
C5419871|Large cell neuroendocrine carcinoma that is not amenable to surgical resection.|NCI|N|
C5419872|An adenocarcinoma that arises from the pancreas and is characterized by the presence of isolated malignant cells or malignant cells that form small aggregates.|NCI|N|
C5419873|An undifferentiated carcinoma that arises from the pancreas. It is characterized by the presence of rhabdoid cells.|NCI|N|
C5419874|An invasive pancreatic ductal adenocarcinoma characterized by the presence of clusters of malignant cells located within artifactual clear stromal spaces.|NCI|N|
C5419875|A well differentiated, high grade neoplasm with neuroendocrine differentiation that arises from the pancreas. The Ki-67 index is higher than 20%.|NCI|N|
C5419889|A subjective response indicating that something is unbearable.|NCI|N|
C5419890|A subjective response indicating that something has completely resolved.|NCI|N|
C5419891|A subjective response indicating that something is much better, but still present.|NCI|N|
C5419892|A subjective response indicating that something is a little bit better, but still present.|NCI|N|
C5419894|An extranodal low-grade B-cell non-Hodgkin lymphoma arising in mucosal or glandular tissues of the digestive system. It recapitulates the cytoarchitectural features of mucosa-associated lymphoid tissue (MALT). It is composed of small lymphoid cells, often including marginal zone cells. (WHO 2019)|NCI|N|
C5419895|Follicular dendritic cell sarcoma that is not associated with Epstein-Barr virus.|NCI|N|
C5419896|A follicular dendritic cell sarcoma that occurs almost exclusively in the liver and spleen and is consistently associated with Epstein-Barr virus.|NCI|N|
C5419897|A diffuse large B-cell lymphoma that arises from the digestive system.|NCI|N|
C5419898|A multinodular intermediate fibroblastic neoplasm arising from the digestive system. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes and plasma cells.|NCI|N|
C5419899|A benign, intermediate, or malignant mesenchymal neoplasm that arises from the digestive system.|NCI|N|
C5419900|A benign, intermediate, or malignant mesenchymal neoplasm that arises from the esophagus.|NCI|N|
C5419901|A benign, intermediate, or malignant mesenchymal neoplasm that arises from the hepatobiliary system.|NCI|N|
C5419902|A benign, intermediate, or malignant mesenchymal neoplasm that arises from the gallbladder.|NCI|N|
C5419903|A benign, intermediate, or malignant mesenchymal neoplasm that arises from the liver and intrahepatic bile ducts.|NCI|N|
C5419904|A benign, intermediate, or malignant mesenchymal neoplasm that arises from the small or large intestine.|NCI|N|
C5419908|An indication that a submitted file is in the process of being uploaded to a data repository.|NCI|N|
C5419909|An indication that a submitted file is in the process of being assigned an md5 checksum.|NCI|N|
C5419910|An indication that a submitted file has successfully been assigned an md5 checksum.|NCI|N|
C5419911|An indication that a file is in the process of being validated by a data repository.|NCI|N|
C5419912|An indication that a file has successfully completed the validation process for submission into a data repository.|NCI|N|
C5419963|A response about an individual''s sleep.|NCI|N|
C5419964|A response indicating that something never affects an individual''s sleep.|NCI|N|
C5419965|A response indicating that something occasionally delays an individual''s falling sleep.|NCI|N|
C5419966|A response indicating that something frequently delays an individual''s falling sleep.|NCI|N|
C5419967|A response indicating that something delays an individual''s falling sleep and occasionally wakes them up at night.|NCI|N|
C5419968|A response indicating that something delays an individual''s falling sleep and frequently wakes them up at night.|NCI|N|
C5419969|A change in the amino acid residue at position 7 in the hemoglobin subunit beta protein where glutamic acid has been replaced by lysine.|NCI|N|
C5419970|A nucleotide substitution at position 19 of the coding sequence of the HBB gene where guanine has been mutated to adenine.|NCI|N|
C5419971|A solitary fibrous tumor arising from an anatomic site in the digestive system, including the esophagus, gallbladder, liver, pancreas, small bowel mesentery, and the serosal surfaces of the stomach and colon.|NCI|N|
C5419972|A leiomyoma arising from an anatomic site in the digestive system.|NCI|N|
C5419973|A lipoma arising from an anatomic site in the digestive system.|NCI|N|
C5419974|A rhabdomyosarcoma arising from an anatomic site in the digestive system.|NCI|N|
C5419975|Meningioma that is resistant to treatment.|NCI|N|
C5419976|A Kaposi sarcoma arising from the digestive system.|NCI|N|
C5419977|A response of 6 on a scale for the subject scoring of upset that ranges from 1: It does not upset me at all to 6: It makes me extremely upset.|NCI|N|
C5420001|Indolent non-Hodgkin lymphoma that is resistant to treatment.|NCI|N|
C5420006|A status indicating that a clinical trial or study subject is currently receiving compassionate care.|NCI|N|
C5420014|A response about an individual''s taste perception.|NCI|N|
C5420016|An indication that an individual''s symptoms are consistent with a diagnosis of COVID-19.|NCI|N|
C5420022|A squamous cell carcinoma that arises from the mucosal epithelium of the nasal cavity or the paranasal sinuses and is characterized by prominent production of keratin.|NCI|N|
C5420023|A distinctive HPV-related non-keratinizing squamous cell carcinoma of the sinonasal tract arising most frequently from the maxillary sinus or nasal cavity. Most patients present with nasal obstruction and/or epistaxis. It is characterized by the presence of basaloid cell proliferations separated by collagenous fibrous bands. The basaloid cells align around microcystic spaces.|NCI|N|
C5420024|A poorly differentiated squamous cell carcinoma arising from the sinonasal tract. It is characterized by the presence of malignant cells with spindle cell features.|NCI|N|
C5420025|A nonkeratinizing squamous cell carcinoma arising from the sinonasal tract. It is characterized by the presence of large cells with vesicular nuclei and prominent nucleoli, a syncytial growth pattern, and a lymphoplasmacytic infiltrate.|NCI|N|
C5420031|A highly aggressive, poorly differentiated carcinoma that arises from the head and neck. Most cases are in the nasal cavity and paranasal sinuses. It is characterized by mutations and rearrangement of the NUT gene.|NCI|N|
C5420032|A highly aggressive, poorly differentiated carcinoma that arises from the nasal cavity and paranasal sinuses. It is characterized by mutations and rearrangement of the NUT gene.|NCI|N|
C5420033|A neuroendocrine carcinoma that arises from the nasal cavity and paranasal sinuses.|NCI|N|
C5420035|A large cell neuroendocrine carcinoma that arises from the nasal cavity and paranasal sinuses.|NCI|N|
C5420037|A neoplasm that arises from the nasal cavity and paranasal sinuses and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C5420040|A benign acquired overgrowth of indigenous glands of the sinonasal tract arising from the surface epithelium. (WHO 2017)|NCI|N|
C5420041|A benign overgrowth of indigenous seromucinous glands of the nasal cavity and paranasal sinuses. (WHO 2017)|NCI|N|
C5420042|A pleomorphic adenoma that arises from the sinonasal tract.|NCI|N|
C5420043|A mesenchymal neoplasm that arises from the nasal cavity and paranasal sinuses.|NCI|N|
C5420044|A sarcoma that arises from the nasal cavity and paranasal sinuses.|NCI|N|
C5420045|A fibrosarcoma that arises from the nasal cavity and paranasal sinuses.|NCI|N|
C5420046|An undifferentiated pleomorphic sarcoma that arises from the nasal cavity and paranasal sinuses.|NCI|N|
C5420047|A rhabdomyosarcoma that arises from the nasal cavity and paranasal sinuses.|NCI|N|
C5420048|An angiosarcoma that arises from the nasal cavity and paranasal sinuses.|NCI|N|
C5420049|A malignant peripheral nerve sheath tumor that arises from the nasal cavity and paranasal sinuses.|NCI|N|
C5420050|A synovial sarcoma that arises from the nasal cavity and paranasal sinuses.|NCI|N|
C5420052|A mesenchymal neoplasm that arises from the sinonasal tract and is characterized by an increased risk of local recurrence and/or a low risk of metastasis.|NCI|N|
C5420053|Desmoid fibromatosis that arises from the nasal cavity and paranasal sinuses.|NCI|N|
C5420056|A solitary fibrous tumor that arises from the nasal cavity and paranasal sinuses.|NCI|N|
C5420057|An epithelioid hemangioendothelioma that arises from the nasal cavity and paranasal sinuses.|NCI|N|
C5420058|A mesenchymal neoplasm that arises from the nasal cavity and paranasal sinuses and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C5420059|A leiomyoma that arises from the nasal cavity and paranasal sinuses.|NCI|N|
C5420060|A hemangioma that arises from the nasal cavity and paranasal sinuses.|NCI|N|
C5420061|A neurofibroma that arises from the nasal cavity and paranasal sinuses.|NCI|N|
C5420066|The reemergence of an intracranial neoplasm after a period of remission.|NCI|N|
C5420067|An intracranial malignant neoplasm that has spread from its original site of growth to another anatomic site.|NCI|N|
C5420068|Anal squamous cell carcinoma that is not amenable to surgical resection.|NCI|N|
C5420071|Esophageal adenocarcinoma that is not amenable to surgical resection.|NCI|N|
C5420072|A rare extracranial meningioma that arises from the sinonasal tract.|NCI|N|
C5420073|Deposits of borderline, malignant, and rarely benign tumors, usually from the ovary, on the peritoneal surface.|NCI|N|
C5420074|A locally aggressive, primarily gnathic (jaw) tumor with a high propensity for recurrence. It originates wholly within the sinonasal tract, without connection to gnathic sites, arising from sinonasal epithelium and showing histological features identical to those of its counterpart originating in the jaw. (WHO 2017)|NCI|N|
C5420075|A benign, locally destructive, sinonasal tumor-like growth containing mixed mesenchymal elements. (WHO 2017)|NCI|N|
C5420076|A plasmacytoma that arises in the sinonasal tract.|NCI|N|
C5420077|A non-Hodgkin lymphoma that arises from the sinonasal tract.|NCI|N|
C5420078|An extranodal NK/T-cell lymphoma that arises from the sinonasal tract.|NCI|N|
C5420079|An extranodal NK/T-cell lymphoma that arises from the nasal cavity.|NCI|N|
C5420080|An olfactory neuroblastoma that arises from the sinonasal tract.|NCI|N|
C5420081|Ewing sarcoma/peripheral primitive neuroectodermal tumor arising from the nasal cavity and paranasal sinuses.|NCI|N|
C5420082|A malignant mesenchymal neoplasm that arises from the nasal cavity and paranasal sinuses.|NCI|N|
C5420084|A status indicating that a clinical trial subject is currently off the trial.|NCI|N|
C5420085|A status indicating that a clinical trial subject is currently off the trial because of an expired biopsy.|NCI|N|
C5420086|A status indicating that a clinical trial subject is currently off the trial because they are deceased.|NCI|N|
C5420087|A status indicating that a clinical trial subject is currently off the trial because they have not granted or received consent.|NCI|N|
C5420088|A status indicating that a clinical trial subject is currently off the trial because they do not fill the criteria for inclusion into an existing treatment arm.|NCI|N|
C5420089|A status indicating that a clinical trial subject is currently off the trial because of an error that occurred during the registration process.|NCI|N|
C5420091|A status indicating that the inclusion of a clinical study or trial subject is currently pending approval.|NCI|N|
C5420092|A status indicating that the inclusion of a clinical study or trial subject is currently pending confirmation of eligibility.|NCI|N|
C5420093|A status indicating that the completion of the registration process for clinical study or trial subject is currently pending due to a request for molecular analysis of PTEN.|NCI|N|
C5420095|A status indicating that a clinical study or trial subject is currently being registered for the study or trial based on assay results that were collected from a site that is not a participating institution.|NCI|N|
C5420110|No longer receiving protocol therapy.|NCI|N|
C5420114|The numeric values of the vital signs.|NCI|N|
C5420128|The status of the medication administration.|NCI|N|
C5420133|The response of the bone marrow to the treatment.|NCI|N|
C5420139|The adverse event did not directly contribute to the death of the subject.|NCI|N|
C5420140|An indication of whether the subject was admitted to the intensive care unit.|NCI|N|
C5420144|Colorectal carcinoma characterized by the absence of microsatellite instability.|NCI|N|
C5420145|Non-cutaneous melanoma that is resistant to treatment.|NCI|N|
C5420146|Ocular melanoma that is resistant to treatment.|NCI|N|
C5420147|Lung squamous cell carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5420148|Lung squamous cell carcinoma that is resistant to treatment.|NCI|N|
C5420149|Microsatellite stable colorectal carcinoma that is resistant to treatment.|NCI|N|
C5420150|A chordoma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5420151|Anal canal squamous cell carcinoma that is resistant to treatment.|NCI|N|
C5420152|Uveal melanoma that is resistant to treatment.|NCI|N|
C5420153|Thyroid gland anaplastic carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5420154|Anal canal squamous cell carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5420155|A benign polypoid lesion that usually arises from the nasopharynx. It may also occur in the oropharynx, palate, tonsil, tongue, lip, and middle ear. It usually affects neonates and older infants and is composed of ectoderm and mesoderm.|NCI|N|
C5420156|A non-neoplastic disorder that affects the nasopharynx.|NCI|N|
C5420157|A pituitary neuroendocrine tumor that does not involve the sella turcica.|NCI|N|
C5420164|An ectopic pituitary neuroendocrine tumor that arises from the nasopharynx.|NCI|N|
C5420166|A lymphoma that arises from the pharynx.|NCI|N|
C5420167|A non-Hodgkin lymphoma that arises from the pharynx.|NCI|N|
C5420168|A Hodgkin lymphoma that arises from the pharynx.|NCI|N|
C5420169|A lymphoma that arises from the nasopharynx.|NCI|N|
C5420171|A non-Hodgkin lymphoma that arises from the nasopharynx.|NCI|N|
C5420172|A Hodgkin lymphoma that arises from the nasopharynx.|NCI|N|
C5420179|A high-grade carcinoma with neuroendocrine differentiation. This category includes small cell carcinomas, large cell neuroendocrine carcinomas, and Merkel cell carcinomas and excludes neuroendocrine carcinomas that arise from the head and neck. The head and neck neuroendocrine carcinomas include well-differentiated, moderately-differentiated, and poorly-differentiated (high-grade) neuroendocrine carcinomas.|NCI|N|
C5420182|A rare neuroendocrine carcinoma that arises from the larynx.|NCI|N|
C5420185|A large cell neuroendocrine carcinoma that arises from the larynx.|NCI|N|
C5420186|A mesenchymal neoplasm that arises from the larynx.|NCI|N|
C5420188|A mesenchymal neoplasm that arises from the larynx and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C5420189|A malignant mesenchymal neoplasm that arises from the larynx.|NCI|N|
C5420190|An inflammatory myofibroblastic tumor that arises from the larynx.|NCI|N|
C5420191|A liposarcoma that arises from the tongue.|NCI|N|
C5420192|A granular cell tumor that arises from the larynx.|NCI|N|
C5420193|A benign neoplasm arising from hyaline cartilage of the larynx. It is characterized by the presence of chondrocytes, a lobulated growth pattern, and calcification.|NCI|N|
C5420194|A sarcoma that arises from soft tissue of the larynx.|NCI|N|
C5420195|The reemergence of mature T-cell and NK-cell neoplasm after a period of remission.|NCI|N|
C5420196|Mature T-cell and NK-cell neoplasm that is resistant to treatment.|NCI|N|
C5420197|A very rare pleomorphic adenoma that arises from the larynx.|NCI|N|
C5420198|A squamous cell carcinoma that arises from the oropharynx and lacks association with human papillomavirus type 16 infection.|NCI|N|
C5420199|A molecular abnormality indicating the absence of serine-protein kinase ATM expression.|NCI|N|
C5420201|A change in the nucleotide sequence of the ARID2 gene.|NCI|N|
C5420203|A change in the nucleotide sequence of the ARID1B gene.|NCI|N|
C5420204|A change in the nucleotide sequence of exon 4 of the KRAS gene that results in constitutive activation of both GTPase KRas protein and its downstream signaling pathways.|NCI|N|
C5420205|A change in the nucleotide sequence of exon 3 of the KRAS gene that results in constitutive activation of both GTPase KRas protein and its downstream signaling pathways.|NCI|N|
C5420206|A change in the nucleotide sequence of exon 2 of the KRAS gene that results in constitutive activation of both GTPase KRas protein and its downstream signaling pathways.|NCI|N|
C5420207|A change in the nucleotide sequence of the BRAF gene that occurs outside of codon 600.|NCI|N|
C5420208|A variation in the amino acid sequence for the serine/threonine-protein kinase Chk2 protein.|NCI|N|
C5420209|A nucleotide substitution at position 470 of the coding sequence of the CHEK2 gene where thymine has been mutated to cytosine.|NCI|N|
C5420210|A change in the amino acid residue at position 157 in the serine/threonine-protein kinase Chk2 protein where isoleucine has been replaced by threonine.|NCI|N|
C5420211|A nucleotide substitution at position 1283 of the coding sequence of the CHEK2 gene where cytosine has been mutated to thymine.|NCI|N|
C5420213|A change in the amino acid residue at position 428 in the serine/threonine-protein kinase Chk2 protein where serine has been replaced by phenylalanine.|NCI|N|
C5420217|A change in the nucleotide sequence of the ADA2 gene.|NCI|N|
C5420219|Dysplasia in the oral cavity with low grade architectural and cytological epithelial changes.|NCI|N|
C5420220|Dysplasia in the oral cavity with high grade architectural and cytological epithelial changes.|NCI|N|
C5420221|Benign multifocal squamous epithelial proliferation affecting the oral mucosa. It is associated with human papilloma virus infection.|NCI|N|
C5420222|Verruca vulgaris in the lips and oral cavity.|NCI|N|
C5420224|Myofibroblastic sarcoma arising from the oral cavity.|NCI|N|
C5420225|A mesenchymal neoplasm that arises from the oral cavity.|NCI|N|
C5420226|A mesenchymal neoplasm that arises from the oral cavity and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C5420227|A soft tissue sarcoma that arises from the oral cavity.|NCI|N|
C5420229|A form of acute respiratory distress syndrome (ARDS) that is marked by mild hypoxemia. Based on the Berlin criteria, onset must occur within one week of a clinical insult or there must be evidence of new or worsening respiratory symptoms. Chest imaging reveals bilateral opacities consistent with pulmonary edema that are not fully explained by effusions, lobar/lung collapse, or nodules. Respiratory failure is not fully explained by heart failure or fluid overload and objective assessment, e.g. echocardiography, is required to exclude hydrostatic edema if no risk factor is present. Additionally, oxygenation as measured by a partial pressure of arterial oxygen (PaO2) to the fraction of inspired oxygen (FIO2) is equivalent to between 200 and 300 mm Hg with positive end-expiratory pressure (PEEP) or continuous positive airway pressure (CPAP) of at least 5 cm of water (Ranieri VM et al., JAMA. 2012;307(23):2526-2533).|NCI|N|
C5420230|A form of acute respiratory distress syndrome (ARDS) that is marked by moderate hypoxemia. Based on the Berlin criteria, onset must occur within one week of a clinical insult or there must be evidence of new or worsening respiratory symptoms. Chest imaging reveals bilateral opacities consistent with pulmonary edema that are not fully explained by effusions, lobar/lung collapse, or nodules. Respiratory failure is not fully explained by heart failure or fluid overload and objective assessment, e.g. echocardiography, is required to exclude hydrostatic edema if no risk factor is present. Additionally, oxygenation as measured by a partial pressure of arterial oxygen (PaO2) to the fraction of inspired oxygen (FIO2) is equivalent to between 100 and 200 mm Hg with positive end-expiratory pressure (PEEP) of at least 5 cm of water (Ranieri VM et al., JAMA. 2012;307(23):2526-2533).|NCI|N|
C5420231|A histiocytic and dendritic cell neoplasm that affects the head and neck.|NCI|N|
C5420232|Langerhans cell histiocytosis involving the head and neck.|NCI|N|
C5420233|Langerhans cell histiocytosis involving the oral mucosa.|NCI|N|
C5420234|A melanocytic neoplasm that arises from the skin or mucosal sites in the head and neck region.|NCI|N|
C5420235|An extramedullary myeloid tumor that arises from the oral cavity. It occurs de novo or can precede, coincide with, or follow the presentation of acute myeloid leukemia, or can constitute blastic transformation of a myelodysplastic syndrome or myeloproliferative neoplasm. (WHO 2017)|NCI|N|
C5420237|A gastrointestinal stromal tumor that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5420238|Acute undifferentiated leukemia that does not respond to treatment.|NCI|N|
C5420240|A response about an individual''s primary goal.|NCI|N|
C5420248|The results of the vital sign measurements.|NCI|N|
C5420250|A response defined as a non-response in the protocol.|NCI|N|
C5420252|Ganglioneuroblastoma that does not respond to treatment.|NCI|N|
C5420253|The reemergence of ganglioneuroblastoma after a period of remission.|NCI|N|
C5420254|A cytogenetic abnormality involving the rearrangement of two or more other chromosomes with the short arm of chromosome 12 (12p).|NCI|N|
C5420255|A cytogenetic abnormality that involves a translocation between chromosomes 2 and 12.|NCI|N|
C5420266|Primitive neuroectodermal tumor that does not respond to treatment.|NCI|N|
C5420267|An X-linked recessive inherited disorder caused by loss of function mutations in the PIGA gene. It is characterized by deficient GPI-anchor synthesis. Patients may develop somatic paroxysmal nocturnal hemoglobinuria (PNH) or multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2; early infantile epileptic encephalopathy 20; EIEE20).|NCI|N|
C5420269|A status indicating that a clinical trial subject that was assigned to a protocol treatment arm is currently off the trial because they are deceased.|NCI|N|
C5420270|A status indicating that a clinical trial subject that was assigned to a protocol treatment arm is currently off the trial because they have experienced disease progression.|NCI|N|
C5420271|A pleomorphic adenoma that arises from the oropharynx.|NCI|N|
C5420272|A salivary gland polymorphous adenocarcinoma that arises from the oropharynx.|NCI|N|
C5420273|A lymphoma that arises from the oropharynx.|NCI|N|
C5420274|A Hodgkin lymphoma that arises from the oropharynx.|NCI|N|
C5420275|A non-Hodgkin lymphoma that arises from the oropharynx.|NCI|N|
C5420276|A follicular dendritic cell sarcoma that arises from the head and neck. The most frequently affected sites are the cervical lymph nodes, the Waldeyer ring, and the soft tissue of the neck.|NCI|N|
C5420277|A change in the nucleotide sequence of the RPL5 gene.|NCI|N|
C5420278|A change in the nucleotide sequence of the ELANE gene.|NCI|N|
C5420280|A carcinoma that has metastasized to the neck region from an unknown primary anatomic site.|NCI|N|
C5420281|An extremely rare Merkel cell carcinoma affecting the lymph nodes. It may represent metastasis from a regressed dermal primary. (WHO 2017)|NCI|N|
C5420282|An extremely rare Merkel cell carcinoma affecting the head and neck lymph nodes. It may represent metastasis from a regressed dermal primary. (WHO 2017)|NCI|N|
C5420283|A head and neck carcinoma arising from heterotopic tissue elements (i.e. histologically normal tissue of a particular type that is present at an abnormal anatomical site). (WHO 2017)|NCI|N|
C5420284|A finding of a micrometastasis measuring from 0. 2mm to 2 mm along the greatest dimension.|NCI|N|
C5420285|A finding of a macrometastasis measuring more than 2 mm along the greatest dimension.|NCI|N|
C5420286|A cluster of metastatic malignant cells measuring less than 0.2 mm along the greatest dimension.|NCI|N|
C5420289|An indicator for whether a molecular analysis procedure was performed and whether the assay detected a molecular abnormality.|NCI|N|
C5420296|A rare malignant mesothelioma arising from the tunica vaginalis. It is characterized by the presence of cells with epithelioid morphology. The epithelioid cells usually have eosinophilic cytoplasm, bland nuclei, and form tubulopapillary, microglandular, or sheet-like patterns.|NCI|N|
C5420297|A rare malignant mesothelioma arising from the tunica vaginalis. It is characterized by the presence of spindle cells. Anaplastic morphologic features and multinucleated malignant cells may also be seen.|NCI|N|
C5420298|A rare malignant mesothelioma arising from the tunica vaginalis. It is characterized by the presence of epithelioid and sarcomatoid components, with each component representing at least 10% of the tumor.|NCI|N|
C5420299|Paratesticular malignant mesothelioma that is not amenable to surgical resection.|NCI|N|
C5420300|Paratesticular epithelioid mesothelioma that is not amenable to surgical resection.|NCI|N|
C5420301|Paratesticular sarcomatoid mesothelioma that is not amenable to surgical resection.|NCI|N|
C5420302|Paratesticular biphasic mesothelioma that is not amenable to surgical resection.|NCI|N|
C5420303|Peritoneal malignant mesothelioma that is not amenable to surgical resection.|NCI|N|
C5420304|Peritoneal epithelioid mesothelioma that is not amenable to surgical resection.|NCI|N|
C5420305|Peritoneal sarcomatoid mesothelioma that is not amenable to surgical resection.|NCI|N|
C5420306|Peritoneal biphasic mesothelioma that is not amenable to surgical resection.|NCI|N|
C5420307|Pleural epithelioid mesothelioma that is not amenable to surgical resection.|NCI|N|
C5420308|Pleural sarcomatoid mesothelioma that is not amenable to surgical resection.|NCI|N|
C5420309|Pleural biphasic mesothelioma that is not amenable to surgical resection.|NCI|N|
C5420311|Transitional cell carcinoma that occurs in a horse.|NCI|N|
C5420312|Ageusia caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2).|NCI|N|
C5420315|Hereditary thyroid gland medullary carcinoma that is not amenable to surgical resection.|NCI|N|
C5420316|The reemergence of hereditary thyroid gland medullary carcinoma after a period of remission.|NCI|N|
C5420318|Beta thalassemia that results in severe anemia and requires regular blood transfusions for patient survival.|NCI|N|
C5420327|A rare benign salivary gland tumor that consists of a well-circumscribed biphasic proliferation of epithelial cells and reactive lymphoid tissue. Sebaceous and non-sebaceous forms can be distinguished. (WHO 2017)|NCI|N|
C5420328|A benign salivary gland lesion characterized by acinar atrophy, ductal hyperplasia, and epimyoepithelial islands in lymphoid stroma. (WHO 2017)|NCI|N|
C5420329|A salivary ductal proliferation resembling intercalated ducts. (WHO 2017)|NCI|N|
C5420331|The return of host hematopoiesis following graft failure.|NCI|N|
C5420332|A lipoma that arises from a salivary gland. It usually occurs in the parotid gland.|NCI|N|
C5420333|A benign salivary gland neoplasm composed of mature adipose tissue and epithelial tissue. It usually occurs in the parotid gland.|NCI|N|
C5420334|Acute biphenotypic leukemia that is resistant to treatment.|NCI|N|
C5420335|A benign parotid gland neoplasm composed of mature adipose tissue and epithelial tissue.|NCI|N|
C5420336|Pharyngeal squamous cell carcinoma that has spread from the original site of growth to another anatomic site.|NCI|N|
C5420338|A self-limiting, rapidly growing, non-encapsulated benign neoplasm that arises from the salivary glands. It is composed of fibroblastic/myofibroblastic cells. It usually occurs in the parotid gland.|NCI|N|
C5420339|A self-limiting, rapidly growing, non-encapsulated benign neoplasm that arises from the parotid gland. It is composed of fibroblastic/myofibroblastic cells.|NCI|N|
C5420340|The reemergence of pharyngeal squamous cell carcinoma after a period of remission.|NCI|N|
C5420341|A lymphoma that manifests initially in a salivary gland. It usually occurs in the parotid gland.|NCI|N|
C5420342|A low-grade extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue arising from a salivary gland. It usually occurs in the parotid gland and is often associated with Sjogren syndrome. The prognosis is favorable.|NCI|N|
C5420343|Pharyngeal squamous cell carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5420354|A follicular lymphoma that manifests initially in the parotid gland.|NCI|N|
C5420355|A diffuse large B-cell lymphoma that manifests initially in the parotid gland.|NCI|N|
C5420357|Indicates that a person has completed some formal schooling but did not start any formal schooling at the high school level (has not attended nor completed high school).|NCI|N|
C5420365|QTc interval prolongation that is seen as an adverse event in some patients with co-morbid cardiovascular disease who are treated with hydroxychloroquine.|NCI|N|
C5420366|A skin abnormality that is associated with SARS-CoV-2 infection (COVID-19).|NCI|N|
C5420367|A change in the appearance or texture of the skin that is associated with SARS-CoV-2 infection (COVID-19).|NCI|N|
C5420373|Transmission of SARS-CoV-2 infection (COVID-19) from a human to a non-human animal.|NCI|N|
C5420380|An indication that there is an antibody response (following infection or vaccination) capable of preventing subsequent infection.|NCI|N|
C5420384|Acute impairment of breaking down fibrin clots leading to venous thromboembolism, stroke, and renal failure.|NCI|N|
C5420388|A non-neoplastic disorder that affects the tongue.|NCI|N|
C5420389|A non-neoplastic disorder that affects the gums.|NCI|N|
C5420390|A non-neoplastic disorder that affects the tonsils.|NCI|N|
C5420391|A non-neoplastic disorder that affects the appendix.|NCI|N|
C5420395|An exceptionally rare alveolar soft part sarcoma that arises from the lung.|NCI|N|
C5420396|A diffuse large B-cell lymphoma that arises from the bone, without lymph node or other extranodal involvement.|NCI|N|
C5420398|Intrahepatic cholangiocarcinoma that has spread from its original site of growth to nearby tissues or lymph nodes.|NCI|N|
C5420399|The reemergence of ectomesenchymoma after a period of remission.|NCI|N|
C5420400|A benign odontogenic tumor composed of variably cellular loose fibrous tissue with areas similar to the dental papilla, entirely surrounded by cuboidal to columnar epithelium resembling the internal epithelium of the enamel organ. It occurs intraosseously, with a marked preference for the mandible. (WHO 2017)|NCI|N|
C5420405|A sarcoma that arises in a maxillofacial bone.|NCI|N|
C5420406|A chondrosarcoma that arises in a maxillofacial bone.|NCI|N|
C5420407|A mesenchymal chondrosarcoma that arises in a maxillofacial bone.|NCI|N|
C5420408|An osteosarcoma that arises in a maxillofacial bone.|NCI|N|
C5420409|A glioma affecting both sides of the thalamus.|NCI|N|
C5420417|A molecular genetic abnormality indicating the presence of multiple copies of the CDKN2A gene.|NCI|N|
C5420418|The loss of one or more nucleotides encoding the 3'' untranslated region of the CCND3 gene.|NCI|N|
C5420419|A molecular abnormality referring to the loss of at least one copy of the CCNK gene.|NCI|N|
C5420421|The loss of one or more nucleotides encoding the 3'' untranslated region of the CCND1 gene.|NCI|N|
C5420422|A molecular abnormality referring to the loss of at least one copy of the FBXO3 gene.|NCI|N|
C5420423|A molecular abnormality referring to the loss of at least one copy of the FBXO31 gene.|NCI|N|
C5420425|A cytogenetic abnormality that refers to a translocation involving the CCND1 gene.|NCI|N|
C5420426|A molecular abnormality referring to the loss of at least one copy of the NF2 gene.|NCI|N|
C5420428|A change in the nucleotide sequence of the CBL gene that that results in constitutive activation of both E3 ubiquitin-protein ligase CBL and its downstream signaling pathways.|NCI|N|
C5420430|A change in the nucleotide sequence of the KIT gene that that results in constitutive activation of both mast/stem cell growth factor receptor Kit and its downstream signaling pathways.|NCI|N|
C5420433|A neoplasm that arises from a maxillofacial bone and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C5420434|A benign neoplasm of hyaline cartilage that arises within the medullary cavity of a maxillofacial bone. It is characterized by the presence of chondrocytes, a lobulated growth pattern, and calcification.|NCI|N|
C5420435|A benign, well-circumscribed bone-forming neoplasm arising in a maxillofacial bone.|NCI|N|
C5420436|A benign chondroid-producing neoplasm arising in a maxillofacial bone.|NCI|N|
C5420438|An uncommon benign cartilaginous neoplasm arising in a maxillofacial bone. It is characterized by the presence of spindle-shaped or stellate chondrocytes, a lobulated growth pattern, myxoid stroma formation, and sometimes multinucleated giant cells.|NCI|N|
C5420439|A benign bone-forming tumor that arises in a maxillofacial bone. It is characterized by limited growth potential. (WHO 2017)|NCI|N|
C5420440|A benign bone-forming neoplasm with prominent osteoblastic rimming arising in a maxillofacial bone.|NCI|N|
C5420441|A rare, benign, locally aggressive osteolytic neoplasm that arises in a maxillofacial bone. It is characterized by the presence of a rich collagenous stroma and spindle cells with minimal cellular atypia.|NCI|N|
C5420442|Esophageal anastomotic stricture that remains narrowed despite repeated therapeutic dilations.|NCI|N|
C5420454|The reemergence of a metastatic malignant neoplasm in the leptomeninges after a period of remission.|NCI|N|
C5420464|A neoplasm that arises from the head and neck and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C5420479|An indication as to whether the criteria applied to a subject or case established that the subject should be included in or excluded from a study, trial or arm.|NCI|N|
C5420498|Differentiated thyroid gland carcinoma that has spread from its original site of growth to another anatomic site.|NCI|N|
C5420499|Differentiated thyroid gland carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5420529|A neoplasm that arises from the inner ear and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential. Representative examples include vestibular schwannoma and lipoma.|NCI|N|
C5420530|Cervical carcinoma that is not amenable to surgical resection.|NCI|N|
C5420532|Cervical adenosquamous carcinoma that is not amenable to surgical resection.|NCI|N|
C5420533|Cervical adenocarcinoma that is not amenable to surgical resection.|NCI|N|
C5420535|A non-neoplastic disorder that affects the middle ear.|NCI|N|
C5420536|Cervical adenosquamous carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5420537|A rare extracranial meningioma that arises from the middle ear.|NCI|N|
C5420538|Salivary gland carcinoma that is not amenable to surgical resection.|NCI|N|
C5420540|Endometrial adenocarcinoma that has spread from its original site of growth to nearby tissues or lymph nodes.|NCI|N|
C5420541|Endometrial endometrioid adenocarcinoma that has spread from its original site of growth to nearby tissues or lymph nodes.|NCI|N|
C5420542|Endometrioid adenocarcinoma that has spread from its original site of growth to nearby tissues or lymph nodes.|NCI|N|
C5420543|Poorly differentiated thyroid gland carcinoma that has spread from its original site of growth to another anatomic site.|NCI|N|
C5420544|The reemergence of poorly differentiated thyroid gland carcinoma after a period of remission.|NCI|N|
C5420547|The reemergence of AL amyloidosis after a period of remission.|NCI|N|
C5420548|AL amyloidosis that does not respond to treatment.|NCI|N|
C5420596|An indication that the subject has been using a systemic steroid at the prescribed dose for a long period of time.|NCI|N|
C5420598|Rectal adenocarcinoma that has spread from its original site of growth to nearby tissues or lymph nodes.|NCI|N|
C5420607|A molecular genetic abnormality indicating the presence of multiple copies of the CD274 gene.|NCI|N|
C5420613|A nucleotide substitution at position 380 of the coding sequence of the TP53 gene where cytosine has been mutated to adenine.|NCI|N|
C5420614|A change in the amino acid residue at position 127 in the cellular tumor antigen p53 protein where serine has been replaced by tyrosine.|NCI|N|
C5420615|A nucleotide substitution at position 133 of the coding sequence of the CTNNB1 gene where thymine has been mutated to cytosine.|NCI|N|
C5420616|A change in the amino acid residue at position 45 in the catenin beta-1 protein where serine has been replaced by proline.|NCI|N|
C5420617|A nucleotide substitution at position 746 of the coding sequence of the TP53 gene where guanine has been mutated to thymine.|NCI|N|
C5420618|A change in the amino acid residue at position 249 in the cellular tumor antigen p53 protein where arginine has been replaced by methionine.|NCI|N|
C5420619|A change in the amino acid residue at position 132 in the cellular tumor antigen p53 protein where lysine has been replaced by glutamic acid.|NCI|N|
C5420620|A nucleotide substitution at position 394 of the coding sequence of the TP53 gene where alanine has been mutated to guanine.|NCI|N|
C5420622|A nucleotide substitution at position 134 of the coding sequence of the CTNNB1 gene where cytosine has been mutated to thymine.|NCI|N|
C5420623|A change in the amino acid residue at position 45 in the catenin beta-1 protein where serine has been replaced by phenylalanine.|NCI|N|
C5420624|A nucleotide substitution at position 110 of the coding sequence of the CTNNB1 gene where cytosine has been mutated to thymine.|NCI|N|
C5420625|A change in the amino acid residue at position 37 in the catenin beta-1 protein where serine has been replaced by phenylalanine.|NCI|N|
C5420627|The presence of nucleotide sequence changes in both alleles of the MUTYH gene.|NCI|N|
C5420628|A change in the nucleotide sequence in a ERCC family gene.|NCI|N|
C5420629|A change in the nucleotide sequence in the FEN1 gene.|NCI|N|
C5420630|A change in the nucleotide sequence in the CDK2 gene.|NCI|N|
C5420631|A change in the nucleotide sequence of the SLX4 gene.|NCI|N|
C5420632|A change in the nucleotide sequence of the RAD52 gene.|NCI|N|
C5420633|A change in the nucleotide sequence in a XRCC family gene.|NCI|N|
C5420634|A change in the nucleotide sequence of the MSH3 gene that either inhibits expression or results in the translation of an inactive DNA mismatch repair protein Msh3 protein.|NCI|N|
C5420635|A change in the nucleotide sequence of the EPCAM gene that either inhibits expression or results in the translation of an inactive epithelial cell adhesion molecule protein.|NCI|N|
C5420636|A molecular genetic abnormality indicating the presence of a mutation in exon 14 of the JAK2 gene.|NCI|N|
C5420637|A molecular genetic abnormality indicating the presence of a mutation in exon 16 of the JAK2 gene.|NCI|N|
C5420643|A non-inflammatory disorder that affects the female reproductive system.|NCI|N|
C5420645|Worsening of, or no apparent change in, the severity of aplastic anemia in response to treatment, including recurrence of transfusion dependency.|NCI|N|
C5420646|Vulvar carcinoma that is not amenable to surgical resection.|NCI|N|
C5420647|Vulvar squamous cell carcinoma that is not amenable to surgical resection.|NCI|N|
C5420648|The reemergence of vulvar squamous cell carcinoma after a period of remission.|NCI|N|
C5420649|Vulvar squamous cell carcinoma that has spread from its original site of growth to another anatomic site.|NCI|N|
C5420650|The reemergence of supratentorial glioblastoma after a period of remission.|NCI|N|
C5420667|Intrahepatic cholangiocarcinoma that is resistant to treatment.|NCI|N|
C5420686|An indication as to whether the ileocecal junction was removed.|NCI|N|
C5420688|The signs and/or symptoms that result in the discontinuation of treatment or intervention.|NCI|N|
C5420690|An indication as to whether death was unexpected or occurred without warning.|NCI|N|
C5420719|The histopathological evaluation of MET staining in tissue based on the METMAB scoring system. (Spigel DR, Ervin TJ, Ramlau RA, et al. Randomized phase II trial of Onartuzumab in combination with erlotinib in patients with advanced non-small-cell lung cancer. J Clin Oncol. 2013;31:4105-14.)|NCI|N|
C5420741|An indication of the severity of a lesion that has red discoloration.|NCI|N|
C5420742|An indication of the severity of a lesion that has flaking dead skin and an increase of keratin in the stratum corneum.|NCI|N|
C5420743|An indication of the severity of a lesion that is raised.|NCI|N|
C5420748|Spontaneous degeneration of the spinal cord and peripheral nerves characterized by myelin sheath vacuolation, Wallerian degeneration and intramyelinic space infiltration by macrophages.|NCI|N|
C5420749|The presence of fibrin in a given tissue or body cavity.|NCI|N|
C5420752|A benign epithelial neoplasm that arises from the conjunctiva. It is characterized by the presence of oncocytic cells with abundant eosinophilic and granular cytoplasm.|NCI|N|
C5420755|A variant of conjunctival squamous cell carcinoma characterized by the presence of malignant spindle cells and/or pleomorphic cells.|NCI|N|
C5420757|A carcinoma that arises from the conjunctiva. It is characterized by the presence of a variable combination of squamous (epidermoid) cells and mucous cells, arranged in invasive sheets, cords, and ducts. (WHO 2018)|NCI|N|
C5420758|A carcinoma that arises from the conjunctiva.|NCI|N|
C5420759|A rare sebaceous carcinoma that arises from the conjunctiva.|NCI|N|
C5420760|A non-neoplastic proliferation of the conjunctival epithelium in response to irritating stimuli.|NCI|N|
C5420761|A reactive proliferation of the conjunctival epithelium associated with the presence of prominent glandular elements.|NCI|N|
C5420762|A reactive proliferation of the conjunctival squamous epithelium not associated with glandular elements.|NCI|N|
C5420766|A group of benign, non-neoplastic lesions in the conjunctiva characterized by increased production of melanin without proliferation of conjunctival melanocytes.|NCI|N|
C5420767|A junctional nevus that arises from the conjunctiva. It occurs almost exclusively in the juxtalimbal bulbar conjunctiva. It is characterized by an intraepithelial proliferation of type A nevus cells and/ or type B nevus cells.|NCI|N|
C5420768|A compound nevus that arises from the conjunctiva. It usually occurs in the bulbar conjunctiva, caruncle, and plica semilunaris. It is characterized by the presence of nevus cells within the epithelium and in the substantia propria. Type A nevus cells are present in the junctional nests and superficial substantia propria, and type B nevus cells are present in the deeper layers of the subepithelial compartment.|NCI|N|
C5420771|A morphologic finding indicating the proliferation of nevus cells within the stroma of a tissue sample.|NCI|N|
C5420772|A conjunctival nevus characterized by an intrastromal proliferation of predominantly type B nevus cells.|NCI|N|
C5420780|Adrenal cortical carcinoma that has spread from its original site of growth to nearby tissues or lymph nodes.|NCI|N|
C5420782|A benign melanocytic neoplasm that arises from the conjunctiva. It is characterized by the presence of dendritic and spindle-shaped melanocytes in the subepithelial connective tissue. It presents as a dark brown or black, slightly elevated conjunctival lesion.|NCI|N|
C5420783|A finding indicating the spread of cancer to a joint.|NCI|N|
C5420784|A benign or malignant pathologic process which is patchy and skips areas which are normal (uninvolved by the pathologic process).|NCI|N|
C5420785|A metastatic tumor nodule located in the same side of the organ in which the primary tumor occurred.|NCI|N|
C5420786|A molecular abnormality indicating rearrangement of the BCOR gene.|NCI|N|
C5420787|A molecular abnormality indicating rearrangement of the FUS gene.|NCI|N|
C5420789|A chromosomal translocation involving the FEV gene at 2q35 and the FUS gene at 16p11.|NCI|N|
C5420793|A chromosomal translocation involving the KLF17 gene at 1p34 and the FUS gene at 16p11.|NCI|N|
C5420794|A chromosomal translocation involving the KLF17 gene at 1p34 and the EWSR1 gene at 22q12.|NCI|N|
C5420795|A chromosomal translocation involving the PBX1 gene at 1q23 and the EWSR1 gene at 22q12.|NCI|N|
C5420796|A chromosomal translocation involving the ATF1 gene at 12q13.12 and the EWSR1 gene at 22q12.|NCI|N|
C5420797|A chromosomal translocation involving the DDIT3 gene at 12q13.3 and the EWSR1 gene at 22q12.|NCI|N|
C5420798|A chromosomal translocation involving the ZNF444 gene at 19q13 and the EWSR1 gene at 22q12.|NCI|N|
C5420799|A chromosomal translocation involving the CREB1 gene at 2q34 and the EWSR1 gene at 22q12.|NCI|N|
C5420800|A chromosomal translocation involving the CIC gene at 19q13 and a second breakpoint on the long arm of chromosome 4 (4q25).|NCI|N|
C5420801|A chromosomal translocation involving the POU5F1 gene at 6p21 and the EWSR1 gene at 22q12.|NCI|N|
C5420802|A chromosomal translocation involving the NR4A3 gene at 9q22 and the EWSR1 gene at 22q12.|NCI|N|
C5420805|A paracentric chromosomal inversion of the short arm of the X chromosome involving the BCOR gene at Xp11.4 and the CCNB3 gene at Xp11.22.|NCI|N|
C5420806|A chromosomal translocation involving the BCOR gene at Xp11 and the MAML3 gene at 4q31.|NCI|N|
C5420808|A rare nevus that arises from the conjunctiva. It is characterized by the presence of large spindle-shaped or epithelioid melanocytes.|NCI|N|
C5420810|A chromosomal translocation involving the BCOR gene at Xp11 and the ZC3H7B gene at 22q13.|NCI|N|
C5420811|A change in the nucleotide sequence of the EIF1AX gene.|NCI|N|
C5420812|An iris melanoma characterized by the presence of malignant large epithelioid melanocytes.|NCI|N|
C5420813|A choristoma in the iris composed of lacrimal gland tissue.|NCI|N|
C5420814|A benign nevus that arises from the ciliary body. Only a small percentage of cases progress to ciliary body melanoma.|NCI|N|
C5420815|A benign nevus derived from melanocytes of the uveal tract. Only a small percentage of cases progress to uveal melanoma.|NCI|N|
C5420816|A subtype of ciliary body, iris, and choroidal nevi. It is intensely pigmented and composed of large, plump, polyhedral cells.|NCI|N|
C5420817|A paraneoplastic syndrome characterized by diffuse proliferation of benign melanocytes in the uvea, in patients with an underlying extraocular malignancy. (WHO 2018)|NCI|N|
C5420818|Cervical squamous cell carcinoma that has spread from its original site of growth to nearby tissues or lymph nodes.|NCI|N|
C5420819|A melanoma arising from the iris. It is characterized by the presence of a mixture of spindle A melanoma cells, spindle B melanoma cells, and epithelioid melanoma cells.|NCI|N|
C5420820|A malignant neoplasm that has spread to the uvea from another anatomic site.|NCI|N|
C5420821|Vulvar carcinoma that does not respond to treatment.|NCI|N|
C5420822|Vaginal carcinoma that does not respond to treatment.|NCI|N|
C5420823|Lung adenocarcinoma that is not amenable to surgical resection.|NCI|N|
C5420824|Acute monoblastic and monocytic leukemia that does not respond to treatment.|NCI|N|
C5420825|Acute myelomonocytic leukemia that does not respond to treatment.|NCI|N|
C5420831|A score of 0 that indicates no abnormalities detected as measured by all modalities of computed tomographic imaging.|NCI|N|
C5420832|A score of 1 that indicates abnormalities unrelated to malignancy as measured by all modalities of computed tomographic imaging.|NCI|N|
C5420833|A score of 2A that indicates abnormalities with a low suspicion for malignancy-mesothelioma as measured by all modalities of computed tomographic imaging.|NCI|N|
C5420834|A score of 2B that indicates abnormalities with a low suspicion for malignancy-other neoplasm (specify) as measured by all modalities of computed tomographic imaging.|NCI|N|
C5420836|A score of 0 that indicates no abnormalities detected as seen using video-assisted thoracoscop and laparoscopy.|NCI|N|
C5420837|A score of 1A that indicates abnormality with malignancy not identified-atypical mesothelial proliferation as seen using video-assisted thoracoscopy and laparoscopy.|NCI|N|
C5420838|A score of 1B that indicates abnormality with malignancy not identified-other: (pleural plaque, etc.) as seen using video-assisted thoracoscopy and laparoscopy.|NCI|N|
C5420839|A score of 2A.1 that indicates abnormality with low suspicion for malignancy-mesothelioma, localized, as seen using video-assisted thoracoscopy and laparoscopy.|NCI|N|
C5420840|A score of 2A.2 that indicates abnormality with low suspicion for malignancy-mesothelioma, diffuse, as seen using video-assisted thoracoscopy and laparoscopy.|NCI|N|
C5420841|A score of 2B that indicates abnormality with low suspicion for malignancy-other neoplasm (specify) as seen using video-assisted thoracoscopy and laparoscopy.|NCI|N|
C5420843|A spectrum of discrete retinal glial proliferations surrounding blood vessels, ranging in size from small nodules to massive lesions that fill the eye. (WHO 2018)|NCI|N|
C5420844|A retinal hamartoma that involves only the retinal pigment epithelium. (WHO 2018)|NCI|N|
C5420845|A reactive, non-neoplastic hyperplasia of the retinal pigment epithelium.|NCI|N|
C5420846|A benign neoplasm that arises from the retinal pigment epithelium. It consists of cords and tubules of variably pigmented proliferating retinal pigment epithelium cells, separated by fibrous stroma. Malignant transformation is rare. (WHO 2018)|NCI|N|
C5420847|An adenocarcinoma that arises from the retinal pigment epithelium. The prognosis is good if the tumor has not extended extraocularly.|NCI|N|
C5420849|An increase in cell number and volume of the ciliary epithelium, usually in response to injury. (WHO 2018)|NCI|N|
C5420852|A benign neoplasm of the pigmented ciliary epithelium (pigmented epithelial adenoma) and/ or the non-pigmented ciliary epithelium (non-pigmented epithelial adenoma). (WHO 2018)|NCI|N|
C5420853|An adenocarcinoma arising from the pigmented or non-pigmented ciliary epithelium.|NCI|N|
C5420854|A congenital choristoma in the ciliary body. It consists of a mass of mature glial and neuronal cells without neoplastic potential in an otherwise healthy child; there is usually an adjacent coloboma of the anterior uvea and retina. (WHO 2018)|NCI|N|
C5420856|Kidney carcinoma that is not amenable to surgical resection.|NCI|N|
C5420857|Pancreatic adenosquamous carcinoma that is amenable to surgical resection.|NCI|N|
C5420858|Kidney medullary carcinoma that is not amenable to surgical resection.|NCI|N|
C5420859|Rhabdoid tumor that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5420860|Poorly differentiated thyroid gland carcinoma that is not amenable to surgical resection.|NCI|N|
C5420861|Thyroid gland follicular carcinoma that is not amenable to surgical resection.|NCI|N|
C5420862|Thyroid gland oncocytic carcinoma that is not amenable to surgical resection.|NCI|N|
C5420863|The reemergence of thyroid gland oncocytic carcinoma after a period of remission.|NCI|N|
C5420864|Thyroid gland oncocytic carcinoma that has spread from its original site of growth to another anatomic site.|NCI|N|
C5421082|Either the return of the disease or the progression of the disease.|NCI|N|
C5421083|Normal, no complaint.|NCI|N|
C5421084|Mild complaints, but needs no assistance.|NCI|N|
C5421085|Age-appropriate activity severely impaired.|NCI|N|
C5421086|Confined to bed, needs nursing care.|NCI|N|
C5421087|Needs intensive care, seriously ill, moribund.|NCI|N|
C5421209|The reemergence of diffuse large B-cell lymphoma that resulted from the transformation of marginal zone lymphoma, after a period of remission.|NCI|N|
C5421210|Diffuse large B-cell lymphoma that resulted from the transformation of marginal zone lymphoma and is resistant to treatment.|NCI|N|
C5421211|Lung adenosquamous carcinoma that has spread from its original site of growth to nearby tissues or lymph nodes.|NCI|N|
C5421212|Lung adenocarcinoma that has spread from its original site of growth to nearby tissues or lymph nodes.|NCI|N|
C5421213|A malignant neoplasm that has spread to the visual pathway from another anatomic site.|NCI|N|
C5421214|A primary or metastatic malignant neoplasm that affects the visual pathway.|NCI|N|
C5421215|The spread of a malignant neoplasm from its original site of growth to nearby lymph nodes.|NCI|N|
C5421216|A benign neoplastic melanocytic proliferation affecting the optic disk and optic nerve.|NCI|N|
C5421217|A very rare, benign or malignant embryonal neoplasm affecting the visual pathway during childhood. It arises from primitive medullary epithelium.|NCI|N|
C5421219|Refers to the closing of a study to further enrollment.|NCI|N|
C5421221|An infrequent small cell carcinoma that arises from the salivary glands. It is characterized by the presence of neuroendocrine differentiation and a high number of mitotic figures.|NCI|N|
C5421222|A non-neoplastic disorder that affects the respiratory system. Representative examples include pneumonia, chronic obstructive pulmonary disease, pulmonary failure, tracheitis, and tracheal agenesis.|NCI|N|
C5421225|A rare neoplastic polyp that arises from the stomach. It is characterized by the presence of gastric epithelial differentiation and pyloric gland-type tubular structures, which are closely packed.|NCI|N|
C5421230|No apparent harm occurred in relation to the adverse event.|NCI|N|
C5421232|An ectopic meningioma that arises from the parapharyngeal space.|NCI|N|
C5421247|One of the possible results of an adverse event outcome where the subject recuperated and is free of any pathological conditions resulting from the prior disease or injury.|NCI|N|
C5421253|An intrahepatic cholangiocarcinoma that arises from the intrahepatic large bile ducts.|NCI|N|
C5421257|Distal esophagus adenocarcinoma that has spread from its original site of growth to another anatomic site.|NCI|N|
C5421272|An inflammatory follicular dendritic cell sarcoma that occurs in the digestive system and is consistently associated with Epstein-Barr virus.|NCI|N|
C5421279|A response indicating that an individual''s skin condition makes them feel depressed.|NCI|N|
C5421281|A sarcoma that arises from the digestive system.|NCI|N|
C5421284|A leiomyosarcoma arising from an anatomic site in the digestive system.|NCI|N|
C5421290|A change in the nucleotide sequence of the INPP5D gene.|NCI|N|
C5421291|A leiomyosarcoma that arises from the nasal cavity and paranasal sinuses.|NCI|N|
C5421292|A schwannoma that arises from the nasal cavity and paranasal sinuses.|NCI|N|
C5421293|A lymphoma that arises from the sinonasal tract.|NCI|N|
C5421298|An adenoid cystic carcinoma that arises from the nasopharynx.|NCI|N|
C5421299|The rate of blood flow through the cerebral arteries.|NCI|N|
C5421300|A change in the nucleotide sequence of the GATA2 gene that is associated with increased risk of disease.|NCI|N|
C5421301|The presence of mutations in both alleles of the ADA2 gene.|NCI|N|
C5421303|The reemergence of primary peritoneal clear cell adenocarcinoma after a period of remission.|NCI|N|
C5421304|Endometrioid adenocarcinoma that has spread extensively from the original site of growth to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5421305|A status indicating that a clinical study or trial subject that was assigned to a protocol treatment arm is currently off the trial.|NCI|N|
C5421307|Thyroid gland anaplastic carcinoma that does not respond to treatment.|NCI|N|
C5421309|Ovarian adenocarcinoma that is resistant to treatment.|NCI|N|
C5421312|A rare undifferentiated pleomorphic sarcoma that arises from the retroperitoneum.|NCI|N|
C5421313|A neoplasm that arises in a maxillofacial bone.|NCI|N|
C5421314|The loss of one or more nucleotides encoding the 3'' untranslated region of the CCND2 gene.|NCI|N|
C5421316|Recurrence of an esophageal anastomotic stricture following therapeutic dilation.|NCI|N|
C5421319|A small cell or large cell neuroendocrine carcinoma arising from the endometrium.|NCI|N|
C5421324|Hypopharyngeal carcinoma that has spread from its original site of growth to nearby tissues or lymph nodes.|NCI|N|
C5421325|A T-cell non-Hodgkin lymphoma with an indolent clinical course.|NCI|N|
C5421330|A chronic infection caused by Cryptosporidium parvum or hominis that manifests as enteritis. It usually occurs in immunocompromised patients including persons with AIDS, transplant recipients, patients receiving cytotoxic chemotherapy, and patients with hematologic malignancies.|NCI|N|
C5421331|An observation made during diagnostic imaging that is outside the parameters considered normal.|NCI|N|
C5421333|A cytogenic abnormality that refers to any loss of genetic material from the short arm of chromosome 12 that includes the band at 12p13.2.|NCI|N|
C5421350|Acute myeloid leukemia not otherwise specified that does not respond to treatment.|NCI|N|
C5421351|Thyroid gland papillary carcinoma that is not amenable to surgical resection.|NCI|N|
C5421360|Problem associated with an adjustment that falls below a set of criteria.|NCI|N|
C5421369|A benign neoplastic melanocytic proliferation affecting the optic disk and optic nerve or the uvea.|NCI|N|
C5421557|An abnormality of the function of the skeletal system.|HPO|N|
C5421558|An abnormally elevated concentration of total tryptase (alpha and beta tryptase) in the blood circulation.|HPO|N|
C5421559|The presence autoantibodies in the serum that react to proteins (70 Kd, A, C) that are associated with U1 RNA and form U1snRNP.|HPO|N|
C5421560|The presence of autoantibodies in the serum that react to the glomerular basement membrane.|HPO|N|
C5421562|The presence of autoantibodies in the serum that react to Anti-MDA5 (Anti-melanoma differentiation-associated proteine 5).|HPO|N|
C5421563|The presence autoantibodies in the serum that react do different citrullinated antigens, including filaggrin, fibrinogen, vimentin and collagen.|HPO|N|
C5421564|Abnormality of schwann cells, glial cells that ensheath axons of neurons in the peripheral nervous system and are necessary for their maintenance and function.|HPO|N|
C5421565|The presence of autoantibodies in the serum that react to RNA-polymerase III.|HPO|N|
C5421566|The presence of high titers of antigen-precipitating IgG in the serum.|HPO|N|
C5421567|The presence of autoantibodies in the serum that react to seven proteins that consist of a core of small nuclear ribonucleoprotein (snRNP) particles.|HPO|N|
C5421568|Any structural anomaly of the fetal part of the placenta, which is known as the chorion.|HPO|N|
C5421569|A palpable swelling in both feet and ankles caused by an increase in interstitial fluid volume (excess fluid).|HPO|N|
C5421570|Hypointence (dark) appearance of the substantia nigra inmagnetic resonance imaging using susceptibility weighted imaging (SWI).|HPO|N|
C5421571|Hypointence (dark) appearance of the globus pallidus inmagnetic resonance imaging using susceptibility weighted imaging (SWI).|HPO|N|
C5421572|A tremor-like cortical myoclonus. The tremulous movements are in fact small, high-frequency myoclonic jerks, induced by posture or action. They can be mild, but can also be more incapacitating. When present in the lower limbs, these may lead to gait disorders and even drop attacks. These tremor-like movements during action can be mistaken for essential tremor or epileptic seizures.|HPO|N|
C5421573|Impaired ability to anticipate future events, implement instructions or goals, and develop appropriate steps ahead of time in order to carry out a task or activity.|HPO|N|
C5421574|Impaired ability to bring order to information, actions, or materials to achieve a goal or to follow an established organized routine.|HPO|N|
C5421575|Concentration below the lower limit of normal of one or more components of the the terminal membrane attack complex (MAC) portion of complement, which represents the lytic, pore-forming part of the system. The MAC comprises seven components|HPO|N|
C5421577|Concentration of the complement component C5 in the blood circulation below the lower limit of normal.|HPO|N|
C5421578|Elevated activity of coagulation factor IX. Factor IX, which itself is activated by factor Xa or factor VIIa to form factor IXa, activates factor X into factor Xa.|HPO|N|
C5421579|Abnormal activity of coagulation factor IX. Factor IX, which itself is activated by factor Xa or factor VIIa to form factor IXa, activates factor X into factor Xa.|HPO|N|
C5421580|A tendency to sleep fewer hours than usual while feeling well-rested.|HPO|N|
C5421581|Accumulation of globotriaosylceramide (GL-3) in kidney tissues, which can be quantified as the number of globotriaosylceramide (GL-3) inclusions/kidney interstitial capillary (KIC).|HPO|N|
C5421582|The presence of mildly increased concentrations of albumin in the urine, defined as an albumin-creatinine ratio (ACR) less than 30 mg/gm (less than 3.4 mg/mmol).|HPO|N|
C5421583|The presence of severely increased concentrations of albumin in the urine, defined as an albumin-creatinine ratio greater than 300 mg/gm (greater than 34 mg/mmol).|HPO|N|
C5421585|A variety of drugs may occasionally cause transient crystalluria, in isolation or in conjunction with other urinary abnormalities. Overdose, dehydration, or hypoalbuminaemia, which increases the unbound drug which is ultrafiltrated by the glomerulus, are the factors usally favoring the precipitation of crystals within the tubular lumina. In some cases, medication-induced crystalluria has a distinct phenotypic appearance. For instance, Sulphadiazine crystals appear as strongly birefringent 'shocks of wheat' or 'shells' with an amber color. Acyclovir crystals are birefringent and needle-shaped, and when present in abundance give to urine a silky and opalescent macroscopic appearance.|HPO|N|
C5421586|An increased number of IgG4+ plasma cells in the interstitial space of the kidney.|HPO|N|
C5421587|Impaired ability to track awareness of the effect that one's behavior has on others and how it compares with standards or expectations for behavior.|HPO|N|
C5421588|Impaired ability to keep track of one's problem-solving success or failure, and to identify and correct mistakes during performance of a goal.|HPO|N|
C5421589|Anomalous physical appearance (color, cloudiness, clarity) or odor of urine.|HPO|N|
C5421590|A deviation from the normal concentration of free thyroxine (T4) in the blood circulation. Circulating T4 is almost entirely bound to specific transport proteins such as thyroxine-binding globulin (TBG) but it is the unbound (free) fraction that is able to enter tissues and exert effects.|HPO|N|
C5421591|An elevated concentration of free thyroxine (fT4) in the blood circulation.|HPO|N|
C5421592|A reduced concentration of free thyroxine (fT4) in the blood circulation.|HPO|N|
C5421593|Absence or underdevelopment of the thyroid gland.|HPO|N|
C5421594|Thyrotrophin-releasing hormone (TRH) is a hypothalamic tripeptide synthesized by, stored within, and released from the hypothalamus. It stimulates the synthesis and release of thyroid-stimulating hormone (TSH) from the anterior pituitary gland. Following administration of exogenous TRH, a transient increase in serum TSH is expected. This term refers to an abnormal response in the TRH stimulation test.|HPO|N|
C5421595|Failure to increase serum TSH levels in response to a TRH stimulation test.|HPO|N|
C5421596|A lower than normal TSH response to thyrotrophin-releasing hormone stimulation test.|HPO|N|
C5421597|An elevated level of farnesol in the blood circulation.|HPO|N|
C5421598|Any deviation from a count of antral follicles that is normal for age. Antral follicles appear as small fluid-filled sacs that contain an immature egg. Antral follicle count can be measured (usually on day 2-5 of the menstrual cycle) by transvaginal ultrasound. The number of antral follicles may reflect ovarian reserve.|HPO|N|
C5421599|A count of antral follicles that is lower than normal for age.|HPO|N|
C5421600|A count of antral follicles that is higher than normal for age.|HPO|N|
C5421601|An increased level of a branched chain family amino acid in the urine.|HPO|N|
C5421602|An elevated level of an aromatic amino acid in the urine.|HPO|N|
C5421603|The concentration of succinate in the urine, normalized for urine concentration, is above the upper limit of normal.|HPO|N|
C5421604|An elevated level of an glutamine family amino acid in the urine.|HPO|N|
C5421605|An increased concentration of glutamate in the urine.|HPO|N|
C5421606|An elevated level of a sulfur-containing amino acid in the urine.|HPO|N|
C5421607|An elevated level of an aspartate family amino acid in the urine.|HPO|N|
C5421608|An elevated urine level of a compound that is derived from an amino acid.|HPO|N|
C5421609|An increased level in the urine of an alpha-amino acid which is not a member of the group of 23 proteinogenic amino acids.|HPO|N|
C5421610|An increased level of a serine family amino acid in the urine.|HPO|N|
C5421611|An elevated level of a proteinogenic amino acid in the urine. These are the 23 alpha-amino acids that are precursors to proteins, and are incorporated into proteins during translation. The group includes the 20 amino acids encoded by the nuclear genes of eukaryotes together with selenocysteine, pyrrolysine, and N-formylmethionine.|HPO|N|
C5421612|An abnormally increased level of aconitic acid in the urine.|HPO|N|
C5421613|Increased concentration of chitinase 3-like 1 (CHI3L1) in the blood circulation.|HPO|N|
C5421614|Failure to develop fever in the presence of an infection that normally would be expected to elicit a febrile response.|HPO|N|
C5421615|An elevated level of a proteinogenic amino acid in the blood circulation. These are the 23 alpha-amino acids that are precursors to proteins, and are incorporated into proteins during translation. The group includes the 20 amino acids encoded by the nuclear genes of eukaryotes together with selenocysteine, pyrrolysine, and N-formylmethionine.|HPO|N|
C5421616|Any deviation from the normal concentration in the blood circulation of a compound that is derived from an amino acid.|HPO|N|
C5421617|Any deviation from the normal concentration in the blood circulation of an alpha-amino acid which is not a member of the group of 23 proteinogenic amino acids.|HPO|N|
C5421618|An abnormally increased level of alpa-aminobutyric acid in the blood circulation. Alpha-aminobutyric acid alpha-amino acid that is butyric acid bearing a single amino substituent located at position 2.|HPO|N|
C5421619|Concentration of 3-hydroxyisovaleric acid in the urine above the normal range.|HPO|N|
C5421620|An increased concentration in blood of apolipoprotein C-III, a protein component of triglyceride (TG)-rich lipoproteins (TRLs) including very low density lipoproteins (VLDL), high density lipoproteins (HDL) and chylomicrons.|HPO|N|
C5421621|A type of gallop rhythm in which both the third and the fourth sounds are present.|HPO|N|
C5421622|Abnormally increased concentration of tenascin-C in the blood circulation.|HPO|N|
C5421623|Foci of gastric-type mucus-secreting cells interspersed between duodenal enterocytes. These foci of gastric epithelial cells contain Periodic acid-Schiff (PAS)-positive neutral mucin and lack a brush border.|HPO|N|
C5421624|Anomalous physiology (function) of the right ventricle.|HPO|N|
C5421625|Elevation of right ventricular systolic pressure (RVSP) above normal limits. In adults, RVSP is normally 20-30 mmHg.|HPO|N|
C5421626|Abnormally increased level of osteopontin in the blood circulation|HPO|N|
C5421627|An increased level of sorbitol in the blood circulation.|HPO|N|
C5421628|A failure to achieve the ability to crawl at an appropriate developmental stage. Normal infant motor development is marked by a series of postural milestones including learning to crawl on hands and knees between the ages of 6 and 10 months.|HPO|N|
C5421629|Anopmalous function of the shoulder. The shoulder is a ball-and-socket joint that is made up of humerus, scapula and clavicle, which are connected by the sternoclavicular joint (SC), the acromioclavicular joint (AC), the glenohumeral joint (GH), and the scapulothoracic joint (ST). The GH, AC and SC joints link the upper extremity to the axial skeleton at the thorax and enable movement at the shoulder joint|HPO|N|
C5421630|Anomalous echogenicity of the kidney on ultrasound examination.|HPO|N|
C5421631|Increased echogenecity of the medullary region of the kidney.|HPO|N|
C5421632|Increased echogenecity of the kidney cortex.|HPO|N|
C5421634|A structural abnormality of the pulmonary acinus, alveolar parenchyma, or alveoli.|HPO|N|
C5421635|Concentration of uracil in the blood circulation is above the normal range.|HPO|N|
C5421637|Unusually severe clinical course of SARS-CoV-2 infection, manifested clinically by features such as dyspnea and hypoxia with diffuse bilateral ground-glass opacities of the lungs on computed tomographic scan with progressive respiratory insufficiency necessitating oxygen supplementation or mechanical ventilation.|HPO|N|
C5421638|Any deviation of the concentration of ceruloplasmin in the blood from the normal range.|HPO|N|
C5421639|Elevated concentration of ceruloplasmin in the blood circulation.|HPO|N|
C5421640|Increased concentration of methylsuccinic acid in the blood circulation.|HPO|N|
C5421641|Any deviation from the normal concentration of a short-chain fatty acid in the blood circulation.|HPO|N|
C5421642|A structural anomaly of the pharynx.|HPO|N|
C5421643|A functional anomaly of the pharynx.|HPO|N|
C5421644|An abnormally increased circulation of dodecenoylcarnitine, C12:1, in the blood circulation.|HPO|N|
C5421645|An increased concentration of lysyl-pyridinoline (deoxypyridinoline) cross-links in the blood circulation.|HPO|N|
C5421646|Abnormally increased concentration of L-alloisoleucine in the blood circulation.|HPO|N|
C5421647|Abnormally increased level of L-alloisoleucine in the urine.|HPO|N|
C5421648|Abnormal increase of the concentration of 3-methylhistidine in the blood circulation.|HPO|N|
C5421649|An abnormal reduction in the number of beats per unit time of the respiratory cilia.|HPO|N|
C5421650|The amount of inosine in the urine, normalized for urine concentration, is below the lower limit of normal. Inosine is a purine nucleoside in which hypoxanthine is attached to ribofuranose via a beta-N(9)-glycosidic bond.|HPO|N|
C5421651|The amount of guanosine in the urine, normalized for urine concentration, is below the lower limit of normal. Guanosine is a purine nucleoside in which guanine is attached to ribofuranose via a beta-N(9)-glycosidic bond.|HPO|N|
C5421652|Any deviation from the normal amount of a purine compound in the urine. Purines are aromatic heterocyclic compounds containing a purine moiety, which is formed a pyrimidine-ring ring fused to an imidazole ring. Two of the four deoxyribonucleotides (deoxyadenosine and deoxyguanosine) and two of the four ribonucleotides (adenosine, or AMP, and guanosine, or GMP) are purines.|HPO|N|
C5421653|Any deviation from the normal amount of a pyrimidine compound in the urine. Pyrimidines and pyrimidine derivatives are compounds containing a pyrimidne ring, which is a six-member aromatic heterocycle which consists of two nitrogen atoms (at positions 1 and 3) and four carbon atoms. The nucleotides cytosine, thymine and uracil are pyrimidines.|HPO|N|
C5421654|An increased susceptibility to viral upper respiratory tract infections as manifested by a history of recurrent viral upper respiratory tract infections (otitis, sinusitis, pharyngitis, tonsillitis).|HPO|N|
C5421655|A neutrophilic interstitial, perivascular and/or perieccrine infiltrate with leukocytoclasia. Notably, leukocytoclastic vasculitis is not present.|HPO|N|
C5421656|Abnormally reduced activity of mevalonate kinase, which is a key enzyme in the mevalonate biosynthetic pathway that leads to the synthesis of both cholesterol and nonsterol isoprenoids.|HPO|N|
C5421657|Abnormally reduced volume of air in the lungs upon the maximum effort of inspiration.|HPO|N|
C5421658|Any deviation from the normal range of a skinfold thickness, which quantifies the amount of subcutaneous fat when the skin is pinched by specialized calipers.|HPO|N|
C5421659|Any deviation from the normal range of the thickness of the triceps skinfold, which quantifies the amount of subcutaneous fat when the skin is pinched by specialized calipers.|HPO|N|
C5421660|Increased thickness of the triceps skinfold, which is measured halfway down the back of the upper arm is increased.|HPO|N|
C5421661|Return of lavage fluid with a milky appearance due to the accumulation of a mixture of pulmonary surfactant, which is a lipoprotein complex, in the alveolar space.|HPO|N|
C5421662|Return of lavage fluid characteristically has a bloody appearance in pulmonary alveolar hemorrhage. This is due to admixture of blood, which typically increases with each consecutive lavage portion. Microscopically erythrocytes can be seen. After 24 to 48 h macrophages contain phagocytosed erythrocytes, indicating previous bleeding.|HPO|N|
C5421663|Concentration of L-pyroglutamic acid in the blood is above the upper limit of normal.|HPO|N|
C5421664|An increased concentration of suberic acid in the blood circulation. Suberic acid is an alpha,omega-dicarboxylic acid that is the 1,6-dicarboxy derivative of hexane.|HPO|N|
C5421665|An increased concentration of interleukin-8 in the circulation.|HPO|N|
C5421666|Concentration of aconitic acid in the blood circulation above the upper limit of normal.|HPO|N|
C5421667|An increase in concentration of cathepsin D in the blood circulation.|HPO|N|
C5421670|The term is commonly used to describe a putative abnormal location of pulmonary vein branches adjacent to pulmonary arteries within the same adventitial sheath. However, evidence has been provided that the vessels in question are not pulmonary veins, however represent dilated bronchial veins.|HPO|N|
C5421671|Tooth root length more than 2 SD above mean, or subjectively apparently increased tooth root length.|HPO|N|
C5421672|A large nonpalpable spot of the skin over 1 cm in dimension with increased pigmentation and increased hair growth.|HPO|N|
C5421673|An increased concentration of selenium in the blood circulation.|HPO|N|
C5421674|An abnormally reduced concentration of selenium in the blood circulation.|HPO|N|
C5421675|Swelling of the hepatocyte, rounding of its contour, and alteration of the cytoplasm, which takes on a reticulated, rarefied, or flocculant quality. The cytoplasm of the ballooned hepatocytes often contains clumps of eosinophilic ropey material known as Mallory-Denk bodies (MDBs) or Mallory hyaline, which is composed of hyperphosphorylated misfolded intermediate filaments, ubiquitin, and ubiquitin-binding protein P62.|HPO|N|
C5421676|Infiltration of inflammatory cells in lobules of the liver. A focus of lobular inflammation can be defined as two or more inflammatory cells (neutrophils, lymphocytes and other mononuclear cells, eosinophils and microgranulomas) within the lobule present within the sinusoids or surrounding injured hepatocytes (ballooned or apoptotic hepatocytes).|HPO|N|
C5421678|An elevation of the concentration of interleukin 10 in the blood circulation.|HPO|N|
C5421679|Reduced intensity of the brachioradialis tendon reflex.|HPO|N|
C5421680|Increased intensity of the brachioradialis reflex.|HPO|N|
C5421681|Increased intensity of the triceps reflex.|HPO|N|
C5421682|Increased intensity of the biceps reflex.|HPO|N|
C5421683|Increased intensity of the Achilles reflex.|HPO|N|
C5421684|Increased proportion relative to B-lymphocytes of a subset of B lymphocytes characterized by dim/low levels of CD21, i.e., CD21-/low, in flow cytometry, and additionally enriched in autoreactive clones as determined for instance by clonse showing rheumatoid factor (anti-IgG) reactivity and antibodies recognizing cytoplasmic and to a lesser extent nuclear structures.|HPO|N|
C5421685|The concentration of suberic acid in the urine, normalized for urine concentration, is above the upper limit of normal.|HPO|N|
C5421686|Increased susceptibility to viral pneumonia, as manifested by recurrent episodes of viral pneumonias.|HPO|N|
C5421687|A developmental defect characterized by the absence of the putamen owing to its failure to develop.|HPO|N|
C5421689|A cruciform-shaped hyperintensity within the pons found on T2-weighted magnetic resonance imaging (MRI).|HPO|N|
C5421690|A temporary reduction beneath the normal level of total immunoglobulin G4 (IgG4) in the blood circulation.|HPO|N|
C5421691|A lasting decrease of immunoglobulin G4 (IgG4) in the blood.|HPO|N|
C5421692|A lasting absence of immunoglobulin G4 (IgG4) in the blood, whereby at most trace quantities of IgG4 can be measured.|HPO|N|
C5421693|A lasting limited decrease of immunoglobulin G4 (IgG4) in the blood.|HPO|N|
C5421694|A temporary reduction beneath the normal level of total immunoglobulin G2 (IgG2) in the blood circulation.|HPO|N|
C5421695|A lasting decrease of immunoglobulin G2 (IgG2) in the blood.|HPO|N|
C5421696|A lasting absence of immunoglobulin G2 (IgG2) in the blood, whereby at most trace quantities of IgG2 can be measured.|HPO|N|
C5421697|A lasting limited decrease of immunoglobulin G2 (IgG2) in the blood.|HPO|N|
C5421698|A temporary reduction beneath the normal level of total immunoglobulin G1 (IgG1) in the blood circulation.|HPO|N|
C5421699|A lasting decrease of immunoglobulin G1 (IgG1) in the blood.|HPO|N|
C5421700|A lasting absence of immunoglobulin G1 (IgG1) in the blood, whereby at most trace quantities of IgG1 can be measured.|HPO|N|
C5421701|A lasting limited decrease of immunoglobulin G1 (IgG1) in the blood.|HPO|N|
C5421702|A temporary reduction beneath the normal level of total immunoglobulin G3 (IgG3) in the blood circulation.|HPO|N|
C5421703|A lasting decrease of immunoglobulin G3 (IgG3) in the blood.|HPO|N|
C5421704|A lasting absence of immunoglobulin G3 (IgG3) in the blood, whereby at most trace quantities of IgG3 can be measured.|HPO|N|
C5421705|A lasting limited decrease of immunoglobulin G3 (IgG3) in the blood.|HPO|N|
C5421706|An abnormal deviation from normal levels of immunoglobulins in body fluids, such as mucous.|HPO|N|
C5421707|An elevation from normal levels of immunoglobulins in body fluids, such as mucous.|HPO|N|
C5421708|An reduction from normal levels of immunoglobulins in body fluids, such as mucous.|HPO|N|
C5421709|The percentage of fat as a part of total body weight below the norm, usually defined as less than 14% for females and less than 8% for males.|HPO|N|
C5421710|A deviation from the normal proportion of exhausted T cell relative to T cell in the blood.|HPO|N|
C5421711|A fracture of the cervical vertebra that is caused by a loss of bone mass (osteoporosis) that occurs as part of aging.|HPO|N|
C5421712|A fracture of the lumbar vertebra that is caused by a loss of bone mass (osteoporosis) that occurs as part of aging.|HPO|N|
C5421713|A fractured in which a fragment of the humerus tears away from the main mass of bone as a result of physical trauma.|HPO|N|
C5421714|A fractured in which a fragment of the tibia tears away from the main mass of bone as a result of physical trauma.|HPO|N|
C5421716|A fractured in which the fragment of the epiphysis of femur bone tears away from the main mass of bone as a result of physical trauma.|HPO|N|
C5421717|A partial or complete breakage of the metaphysis of femur.|HPO|N|
C5421718|A partial or complete breakage of the right clavicle.|HPO|N|
C5421719|A partial or complete breakage of the left clavicle.|HPO|N|
C5421720|A partial or complete breakage of the lower limb segment.|HPO|N|
C5421721|A partial or complete breakage of the upper limb segment.|HPO|N|
C5421722|A partial or complete breakage of the metacarpus skeleton.|HPO|N|
C5421723|A partial or complete breakage of the epiphysis of fifth metacarpal bone.|HPO|N|
C5421724|A partial or complete breakage of the clavicle bone.|HPO|N|
C5421725|A partial or complete breakage of the acetabular part of hip bone.|HPO|N|
C5421726|A partial or complete breakage of the navicular bone of pes.|HPO|N|
C5421727|A partial or complete breakage of the sternoclavicular joint.|HPO|N|
C5421730|A partial or complete breakage of the manual digit.|HPO|N|
C5421731|A partial or complete breakage of the fused sacrum.|HPO|N|
C5421732|A partial or complete breakage of the distal phalanx of manus.|HPO|N|
C5421733|A partial or complete breakage of the middle phalanx of pes.|HPO|N|
C5421734|A partial or complete breakage of the distal phalanx of manual digit 2.|HPO|N|
C5421735|A partial or complete breakage of the distal phalanx of manual digit 3.|HPO|N|
C5421736|A partial or complete breakage of the distal phalanx of manual digit 4.|HPO|N|
C5421737|A partial or complete breakage of the distal phalanx of manual digit 5.|HPO|N|
C5421738|A partial or complete breakage of the distal phalanx of pedal digit 1.|HPO|N|
C5421739|A partial or complete breakage of the distal phalanx of pedal digit 3.|HPO|N|
C5421740|A partial or complete breakage of the middle phalanx of manual digit 2.|HPO|N|
C5421741|A partial or complete breakage of the middle phalanx of manual digit 3.|HPO|N|
C5421742|A partial or complete breakage of the middle phalanx of manual digit 4.|HPO|N|
C5421743|A partial or complete breakage of the middle phalanx of manual digit 5.|HPO|N|
C5421744|A partial or complete breakage of the middle phalanx of pedal digit 3.|HPO|N|
C5421745|A partial or complete breakage of the proximal phalanx of pedal digit 1.|HPO|N|
C5421746|A partial or complete breakage of the proximal phalanx of manual digit 1.|HPO|N|
C5421747|A partial or complete breakage of the epiphysis of second metacarpal bone.|HPO|N|
C5421748|A partial or complete breakage of the epiphysis of third metacarpal bone.|HPO|N|
C5421749|A partial or complete breakage of the epiphysis of fourth metacarpal bone.|HPO|N|
C5421750|A partial or complete breakage of the epiphysis of first metatarsal bone.|HPO|N|
C5421751|A partial or complete breakage of the epiphysis of second metatarsal bone.|HPO|N|
C5421752|A partial or complete breakage of the epiphysis of third metatarsal bone.|HPO|N|
C5421753|A partial or complete breakage of the distal epiphysis of radius.|HPO|N|
C5421754|A partial or complete breakage of the proximal epiphysis of first metacarpal bone.|HPO|N|
C5421755|A partial or complete breakage of the proximal epiphysis of middle phalanx of manual digit 3.|HPO|N|
C5421756|A partial or complete breakage of the interphalangeal joint.|HPO|N|
C5421757|A partial or complete breakage of the epiphysis of middle phalanx of manus.|HPO|N|
C5421758|A partial or complete breakage of the lateral malleolus of fibula.|HPO|N|
C5421759|A partial or complete breakage of the proximal phalanx of digit 3.|HPO|N|
C5421760|A partial or complete breakage of the proximal phalanx of digit 4.|HPO|N|
C5421761|A partial or complete breakage of the proximal phalanx of digit 5.|HPO|N|
C5421762|A partial or complete breakage of the fused metatarsal bones 2-4.|HPO|N|
C5421763|A partial or complete breakage of the distal epiphysis of distal phalanx of manual digit 1.|HPO|N|
C5421764|A partial or complete breakage of the metatarsal bone of digit 5.|HPO|N|
C5421765|A partial or complete breakage of the manual digit bone.|HPO|N|
C5421766|A partial or complete breakage of the metacarpal bone of digit 1.|HPO|N|
C5421767|A partial or complete breakage of the distal tarsal bone 2.|HPO|N|
C5421768|A partial or complete breakage of the distal tarsal bone 3.|HPO|N|
C5421769|A partial or complete breakage of the metatarsal bone of digit 4.|HPO|N|
C5421770|A partial or complete breakage of the metatarsal bone of digit 1.|HPO|N|
C5421773|A partial or complete breakage of the hindlimb bone.|HPO|N|
C5421774|A partial or complete breakage of the middle phalanx of manus.|HPO|N|
C5421775|A partial or complete breakage of the manual digit 1 phalanx.|HPO|N|
C5421776|A partial or complete breakage of the phalanx of pes.|HPO|N|
C5421777|A partial or complete breakage of the phalanx of manus.|HPO|N|
C5421778|A partial or complete breakage of the proximal phalanx of manus.|HPO|N|
C5421779|A partial or complete breakage of a shoulder bone.|HPO|N|
C5421780|A partial or complete breakage of the proximal phalanx of digit 2.|HPO|N|
C5421781|A partial or complete breakage of the distal tarsal bone.|HPO|N|
C5421782|Concentration of the complement component C7 in the blood circulation below the lower limit of normal.|HPO|N|
C5428719|A primary or metastatic malignant neoplasm affecting the lacrimal gland or the lacrimal drainage system.|NCI|N|
C5428721|A carcinoma that arises from the lacrimal gland or the lacrimal drainage system.|NCI|N|
C5433293|Symptoms attributed to SARS-CoV-2 infection that persist for more than four weeks following onset and with a negative infectious virus status.|SNOMEDCT_US|N|
C5435585|Optic atrophy-13 with retinal and foveal abnormalities (OPA13) is an autosomal dominant disorder characterized by decreased visual acuity due to bilateral optic atrophy. Difficulties with color vision may also be apparent. The age at onset varies widely: most patients have onset in the first decade, but later onset even into adulthood has been reported. In addition to optic atrophy, most patients develop retinal pigmentary involvement and abnormal appearance of the fovea. Some patients may develop additional systemic features, including sensorineural deafness and progressive nephropathy resulting in renal failure. The disorder is associated with variable signs of mitochondrial dysfunction, including altered morphology, mtDNA depletion, and defective mtDNA replication (summary by Del Dotto et al., 2020, Piro-Megy et al., 2020).
For a discussion of genetic heterogeneity of optic atrophy, see OPA1 (165500).|OMIM|N|
C5435650|Spinal muscular atrophy (SMA) is characterized by muscle weakness and atrophy resulting from progressive degeneration and irreversible loss of the anterior horn cells in the spinal cord (i.e., lower motor neurons) and the brain stem nuclei. The onset of weakness ranges from before birth to adulthood. The weakness is symmetric, proximal > distal, and progressive. Before the genetic basis of SMA was understood, it was classified into clinical subtypes based on maximum motor function achieved; however, it is now apparent that the phenotype of SMN1-associated SMA spans a continuum without clear delineation of subtypes. With supportive care only, poor weight gain with growth failure, restrictive lung disease, scoliosis, and joint contractures are common complications; however, newly available targeted treatment options are changing the natural history of this disease.|GeneReviews|N|
C5435651|Any COACH syndrome in which the cause of the disease is a variation in the TMEM67 gene.|MONDO|N|
C5435656|Mitochondrial complex IV deficiency nuclear type 1 (MC4DN1) is an autosomal recessive metabolic disorder characterized by rapidly progressive neurodegeneration and encephalopathy with loss of motor and cognitive skills between about 5 and 18 months of age after normal early development. Affected individuals show hypotonia, failure to thrive, loss of the ability to sit or walk, poor communication, and poor eye contact. Other features may include oculomotor abnormalities, including slow saccades, strabismus, ophthalmoplegia, and nystagmus, as well as deafness, apneic episodes, ataxia, tremor, and brisk tendon reflexes. Brain imaging shows bilateral symmetric lesions in the basal ganglia, consistent with a clinical diagnosis of Leigh syndrome (see 256000). Some patients may also have abnormalities in the brainstem and cerebellum. Laboratory studies usually show increased serum and CSF lactate and decreased levels and activity of mitochondrial respiratory complex IV in patient tissues. There is phenotypic variability, but death in childhood, often due to central respiratory failure, is common (summary by Tiranti et al., 1998; Tiranti et al., 1999; Teraoka et al., 1999; Poyau et al., 2000)
Genetic Heterogeneity of Mitochondrial Complex IV Deficiency
Most isolated COX deficiencies are inherited as autosomal recessive disorders caused by mutations in nuclear-encoded genes; mutations in the mtDNA-encoded COX subunit genes are relatively rare (Shoubridge, 2001; Sacconi et al., 2003).
Mitochondrial complex IV deficiency caused by mutation in nuclear-encoded genes, in addition to MC4DN1, include MC4DN2 (604377), caused by mutation in the SCO2 gene (604272); MC4DN3 (619046), caused by mutation in the COX10 gene (602125); MC4DN4 (619048), caused by mutation in the SCO1 gene (603664); MC4DN5 (220111), caused by mutation in the LRPPRC gene (607544); MC4DN6 (615119), caused by mutation in the COX15 gene (603646); MC4DN7 (619051), caused by mutation in the COX6B1 gene (124089); MC4DN8 (619052), caused by mutation in the TACO1 gene (612958); MC4DN9 (616500), caused by mutation in the COA5 gene (613920); MC4DN10 (619053), caused by mutation in the COX14 gene (614478); MC4DN11 (619054), caused by mutation in the COX20 gene (614698); MC4DN12 (619055), caused by mutation in the PET100 gene (614770); MC4DN13 (616501), caused by mutation in the COA6 gene (614772); MC4DN14 (619058), caused by mutation in the COA3 gene (614775); MC4DN15 (619059), caused by mutation in the COX8A gene (123870); MC4DN16 (619060), caused by mutation in the COX4I1 gene (123864); MC4DN17 (619061), caused by mutation in the APOPT1 gene (616003); MC4DN18 (619062), caused by mutation in the COX6A2 gene (602009); MC4DN19 (619063), caused by mutation in the PET117 gene (614771); MC4DN20 (619064), caused by mutation in the COX5A gene (603773); MC4DN21 (619065), caused by mutation in the COXFA4 gene (603883); MC4DN22 (619355), caused by mutation in the COX16 gene (618064); and MC4DN23 (620275), caused by mutation in the COX11 gene (603648).
Mitochondrial complex IV deficiency has been associated with mutations in several mitochondrial genes, including MTCO1 (516030), MTCO2 (516040), MTCO3 (516050), MTTS1 (590080), MTTL1 (590050), and MTTN (590010).|OMIM|N|
C5435660|An inherited susceptibility or predisposition to developing 1 diabetes mellitus that is caused by variation in genes located in the MHC complex on chromosome 6p21.3.|MONDO|N|
C5435698|Autosomal recessive growth hormone insensitivity syndrome with immune dysregulation-1 (GHISID1) is a congenital disorder characterized by short stature due to insensitivity to growth hormone (GH1; 139250). Affected individuals usually have failure to thrive, delayed bone age, and delayed puberty associated with decreased serum IGF1 (147440), IGFBP3 (146732), and ALS (601489). Some patients may have dysmorphic features. Most, but not all, patients have features of immune dysregulation, including chronic pulmonary disease, interstitial pneumonitis, recurrent or severe infections, eczema, and autoimmune arthritis. The immune features are highly variable (summary by Kofoed et al., 2003; Vidarsdottir et al., 2006).
See 262500 for a form of growth hormone insensitivity caused by mutation in the growth hormone receptor gene (GHR; 600946).|OMIM|N|
C5435745|Immunodeficiency-74 (IMD74) is an X-linked recessive specific immunologic disorder characterized by the development of severe respiratory insufficiency in response to infection with the COVID-19 coronavirus, also known as SARS-CoV-2 ssRNA coronavirus. Affected individuals usually require mechanical ventilation in the ICU in order to survive. Laboratory studies show activation of the immune response and may show perturbation of some values, such as increased D-dimers and fibrinogen. In vitro functional studies of patient immune cells show impaired signaling through the TLR7 pathway, resulting in defective type I and type II interferon (IFN) responses. The patients reported to date did not have a history of immunodeficiency or chronic disease (summary by van Der Made et al., 2020).|OMIM|N|
C5435753|VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome) is an adult-onset inflammatory disease that primarily affects males and is caused by somatic, not germline, mutations. The disorder is characterized by adult onset of rheumatologic symptoms at a mean age of 64 years. Features include recurrent fevers, pulmonary and dermatologic inflammatory manifestations, vasculitis, deep vein thrombosis, arthralgias, and ear and nose chondritis. Laboratory studies indicate hematologic abnormalities, including macrocytic anemia, as well as increased levels of acute-phase reactants; about half of patients have positive autoantibodies. Bone marrow biopsy shows degenerative vacuolization restricted to myeloid and erythroid precursor cells, as well as variable hematopoietic dyspoiesis and dysplasias. The condition does not respond to rheumatologic medications and the features may result in premature death (summary by Beck et al., 2020).|OMIM|N|
C5435765|Mitochondrial form of axonal Charcot-Marie-Tooth disease-1 (CMTMA1) is inherited only through the maternal line. The disorder is characterized by onset of distal muscle weakness and atrophy mainly affecting the lower limbs and resulting in difficulty walking in the second decade of life, although both earlier and later onset can occur. Upper limb involvement often develops with time, and affected individuals have weakness and atrophy of the intrinsic hand muscles. Other features may include distal sensory impairment, foot deformities, scoliosis, hypo- or hyperreflexia, spastic paraparesis, and neurogenic bladder. Electrophysiologic studies are compatible with an axonal sensorimotor peripheral neuropathy, and muscle and nerve biopsy show evidence of mitochondrial dysfunction with decreased activities of respiratory complexes, mtDNA deletions, and mitochondrial hyperplasia (summary by Fay et al., 2020).|OMIM|N|
C5435767|Enlargment of mitochondria. Mitochondrial hypertrophy is not discernible by light microscopy. By electron microscopy (EM), hypertrophic mitochondria have normal cristae and normal matrix density. In contrast, swollen mitochondria display swollen cristae and irregular matrix densities in EM.|HPO|N|
C5436061|46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome is a rare, genetic, developmental defect during embryogenesis disorder characterized by partial (unilateral testis, persistence of Müllerian duct structures) or complete (streak gonads only) gonadal dysgenesis, usually manifesting with primary amenorrhea in individuals with female phenotype but 46,XY karyotype, and sensorimotor dysmyelinating minifascicular polyneuropathy, which presents with numbness, weakness, exercise-induced muscle cramps, sensory disturbances and reduced/absent deep tendon reflexes. Germ cell tumors (seminoma, dysgerminoma, gonadoblastoma) may develop from the gonadal tissue.|ORDO|N|
C5436235|Individuals with hereditary distal renal tubular acidosis (dRTA) typically present in infancy with failure to thrive, although later presentations can occur, especially in individuals with autosomal dominant SLC4A1-dRTA. Initial clinical manifestations can also include emesis, polyuria, polydipsia, constipation, diarrhea, decreased appetite, and episodes of dehydration. Electrolyte manifestations include hyperchloremic non-anion gap metabolic acidosis and hypokalemia. Renal complications of dRTA include nephrocalcinosis, nephrolithiasis, medullary cysts, and impaired renal function. Additional manifestations include bone demineralization (rickets, osteomalacia), growth deficiency, sensorineural hearing loss (in ATP6V0A4-, ATP6V1B1-, and FOXI1-dRTA), and hereditary hemolytic anemia (in some individuals with SLC4A1-dRTA).|GeneReviews|N|
C5436276|Rajab interstitial lung disease with brain calcifications-1 (RILCBC1) is an autosomal recessive multisystem disorder with a highly variable phenotype. Most patients present in infancy or early childhood with poor growth and interstitial lung disease, which may lead to death. Some may also have liver, skeletal, and renal abnormalities, and most have intracranial calcifications on brain imaging. Some may have early impaired motor development, but most have normal cognitive development (summary by Xu et al., 2018).
Genetic Heterogeneity of Rajab Interstitial Lung Disease with Brain Calcifications
Also see Rajab interstitial disease with brain calcifications-2 (RILDBC2; 619013), caused by mutation in the FARSA gene (602918).|OMIM|N|
C5436279|Frontotemporal dementia and/or amyotrophic lateral sclerosis-6 (FTDALS6) is an autosomal dominant neurodegenerative disorder with highly variable manifestations. Some patients present in adulthood with progressive FTD, often classified as the 'behavioral variant,' which is characterized by reduced empathy, impulsive behavior, personality changes, and reduced verbal output. Other patients present with features of amyotrophic lateral sclerosis (ALS), which is a fatal neurodegenerative disease characterized by upper and lower motor neuron dysfunction resulting in rapidly progressive paralysis and death from respiratory failure. The pathologic hallmarks of this disease include pallor of the corticospinal tract due to loss of motor neurons (in ALS). In both ALS and FTD, there are ubiquitin-positive inclusions within surviving neurons as well as deposition of pathologic TDP43 (TARDBP; 605078) or p62 (SQSTM1; 601530) aggregates. Patients with a D395G mutation (601023.0014) have been shown to develop pathologic tau (MAPT; 157140) aggregates. Some patients with the disorder may have features of both diseases, and there is significant interfamilial and intrafamilial phenotypic variability (summary by Johnson et al., 2010; Wong et al., 2018; Al-Obeidi et al., 2018; Darwich et al., 2020).
For a general phenotypic description and a discussion of genetic heterogeneity of FTDALS, see FTDALS1 (105550).|OMIM|N|
C5436453|Arthrogryposis multiplex congenita-5 (AMC5) is an autosomal recessive disorder characterized by severe joint contractures apparent at birth. Affected individuals usually have hypertonia and abnormal movements suggestive of dystonia, as well as feeding and/or breathing difficulties. More variable features may include poor overall growth, strabismus, dysmorphic facies, and global developmental delay with impaired speech (summary by Kariminejad et al., 2017).|OMIM|N|
C5436458|Suleiman-El-Hattab syndrome (SULEHS) is an autosomal recessive multisystem developmental disorder characterized by hypotonia and feeding difficulties soon after birth, global developmental delay with impaired intellectual development and poor expressive speech, and a general happy demeanor. There is a distinctive facial appearance with microcephaly, thick arched eyebrows with synophrys, hypertelorism, epicanthal folds, low-set ears, broad nasal bridge, and thin upper lip. Additional more variable features include recurrent respiratory infections, cardiovascular malformations, cryptorchidism, seizures, and distal anomalies of the hands and feet (summary by Suleiman et al., 2019).|OMIM|N|
C5436461|Combined oxidative phosphorylation deficiency-45 (COXPD45) is an autosomal recessive multisystem disorder characterized by poor overall growth apparent from infancy, global developmental delay, seizures, and acute progressive neurologic deterioration with loss of skills. Other features may include dysmorphic facies and lesions on brain imaging. Laboratory studies show increased serum lactate and COXPD in patient tissues, consistent with a mitochondrial defect (summary by Serre et al., 2013).
For discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060).|OMIM|N|
C5436498|Immunodeficiency-69 (IMD69) is an autosomal recessive disorder characterized by increased susceptibility to disseminated mycobacterial infection, including after BCG (bacille Calmette-Guerin) vaccination. Affected individuals develop fever, hepatosplenomegaly, leukocytosis, and thrombocytosis during the acute infection. There appears to be normal immunologic function against other pathogens, including viruses and bacteria. Immunologic work-up shows normal parameters, but patient T and NK cells fail to produce gamma-interferon (IFNG) when stimulated in vitro (summary by Kerner et al., 2020).
IMD69 is a form of mendelian susceptibility to mycobacterial disease (MSMD) (see, e.g., IMD27A; 209950).|OMIM|N|
C5436501|Immunodeficiency-70 (IMD70) is an autosomal dominant immunologic disorder characterized by severe cutaneous warts on the hands, feet, and face, suggesting increased susceptibility to human papillomavirus (HPV) infection. Affected individuals may also have recurrent bacterial infections, such as sinusitis, as well as feature of autoinflammation, such as colitis, celiac disease, and retinal vasculitis. Laboratory studies show decreased CD4+ T cells and decreased CD19+ B cells; hypogammaglobulinemia has also been observed (summary by Thaventhiran et al., 2020).|OMIM|N|
C5436505|Congenital nonprogressive cone-rod synaptic disorder syndrome (CRSDS) is characterized by retinal and neurodevelopmental disease as well as occasional anomalies of glucose homeostasis. Patients exhibit low vision, photophobia, and nystagmus, and show an electronegative waveform in response to bright flash under dark adaptation on electroretinography, with severely reduced and delayed light-adapted responses. Neurodevelopmental features include poor to no language and autistic behaviors (Mechaussier et al., 2020).|OMIM|N|
C5436509|Tolchin-Le Caignec syndrome (TOLCAS) is a developmental disorder characterized by mildly to moderately impaired intellectual development and behavioral problems, such as autism, ADHD, labile mood, and aggressive episodes. Many patients have bony abnormalities, including osteochondroma, craniosynostosis, dysmorphic facies, arachnodactyly, and large head circumference. Rarely, additional congenital anomalies may also be observed. These additional features and the bony defects are highly variable (summary by Tolchin et al., 2020).|OMIM|N|
C5436520|Sodium-dependent multivitamin transporter deficiency (SMVTD) is an autosomal recessive multisystemic metabolic disorder with highly variable manifestations. Affected individuals usually present at birth or in infancy with severe feeding problems, gastrointestinal reflux, cyclic vomiting, and diarrhea associated with failure to thrive. Gastrointestinal hemorrhage may occur; tube-feeding is often required for a short time. The course and severity of the disease varies: some patients have episodes of acute metabolic decompensation during infection that respond well to treatment, whereas others show more permanent neurologic regression with loss of early motor and cognitive milestones in the first year or so of life. Less severely affected patients have normal development or mild growth and motor delays, whereas more severely affected individuals may have seizures, ataxia, spasticity, peripheral neuropathy, immune defects, and osteopenia. In severely affected patients, brain imaging shows cerebral, cerebellar, and brainstem atrophy and thin corpus callosum. Treatment with biotin, pantothenic acid, and alpha-lipoic acid has been shown to result in significant clinical improvement (Byrne et al., 2019; Hauth et al., 2022).|OMIM|N|
C5436525|Li-Ghorbani-Weisz-Hubshman syndrome (LIGOWS) is a neurodevelopmental disorder characterized by global developmental delay, mild to moderately impaired intellectual development with language delay, and mild dysmorphic features. Affected individuals may have behavioral abnormalities and difficulties with numbers and understanding certain concepts, such as money. Some patients have seizures. Brain imaging often shows enlarged ventricles, thin corpus callosum, and gray matter nodular heterotopia, suggesting abnormal cortical brain development. More variable additional features may be present (summary by Li et al., 2020).|OMIM|N|
C5436530|Congenital myopathy-17 (CMYP17) is an autosomal recessive muscle disorder. Affected individuals present at birth with hypotonia and respiratory insufficiency associated with high diaphragmatic dome on imaging. Other features include poor overall growth, pectus excavatum, dysmorphic facies, and renal anomalies in some. The severity of the disorder is highly variable: some patients may have delayed motor development with mildly decreased endurance, whereas others have more severe hypotonia associated with distal arthrogryposis and lung hypoplasia, resulting in early death (summary by Watson et al., 2016 and Lopes et al., 2018).
For a discussion of genetic heterogeneity of congenital myopathy, see CMYP1A (117000).|OMIM|N|
C5436534|Optic atrophy-12 (OPA12) is an autosomal dominant neurologic disorder characterized by slowly progressive visual impairment with onset usually in the first decade, although later onset has been reported. Affected individuals have impaired color vision, photophobia, pale optic discs, optic nerve atrophy, and decreased thickness of the retinal nerve fiber layer. Some patients may exhibit additional neurologic features, including impaired intellectual development, dystonia, movement disorders, or ataxia (summary by Caporali et al., 2020).
For a discussion of genetic heterogeneity of optic atrophy, see OPA1 (165500).|OMIM|N|
C5436540|Immunodeficiency-72 with autoinflammation and lymphoproliferation (IMD72) is an autosomal recessive immunologic disorder characterized by onset of recurrent infections or systemic inflammation in the first year of life. Affected individuals develop bacterial and viral infections that can be severe, including bacteremia, recurrent pneumonia, and meningitis, consistent with an immunodeficiency. There is also an autoimmune and hyperinflammatory aspect to the disorder, manifest as atopy or allergies, hepatosplenomegaly, and lymphoproliferation, including hemophagocytic lymphohistiocytosis (HLH). Immunologic workup shows variable abnormalities, including low or high Ig subsets, increased B cells, irregular T-cell activation and cytokine response, impaired immune synapse formation, and defective cellular migration. At the cellular level, these defects are related to abnormal F-actin polymerization and altered intracellular signaling (summary by Cook et al., 2020).|OMIM|N|
C5436546|Autosomal dominant growth hormone insensitivity syndrome with immune dysregulation-2 (GHISID2) is a congenital disorder characterized by short stature due to insensitivity to growth hormone (GH1; 139250). Affected individuals usually have delayed bone age, delayed puberty, and decreased serum IGF1 (147440). Some patients may have features of mild immune dysregulation, such as eczema, increased serum IgE, asthma, or celiac disease (summary by Klammt et al., 2018).|OMIM|N|
C5436549|Immunodeficiency-73B with defective neutrophil chemotaxis (IMD73B) is an autosomal dominant immunologic disorder characterized by onset of recurrent infections in infancy or early childhood. Affected individuals develop respiratory infections, cellulitis, and severe invasive infections or sepsis; organisms include bacteria such as Staphylococcus, as well as viruses, fungi, and mycobacterial species. Laboratory studies show variable abnormalities, including B- and T-cell lymphopenia, decreased immunoglobulin subsets, decreased TRECs and dysfunctional T cells, decreased NK cells, neutropenia, and impaired neutrophil chemotaxis. Hematopoietic stem cell transplantation is curative (summary by Hsu et al., 2019; review by Lougaris et al., 2020).
In a review of autosomal forms of chronic granulomatous disease (see 306400 for genetic heterogeneity of CGD), Roos et al. (2021) noted that patients with RAC2 mutations may manifest CGD-like symptoms due to defects in neutrophil NADPH oxidase activity.|OMIM|N|
C5436563|Immune dysregulation and systemic hyperinflammation syndrome (IMDYSHI) is an autosomal recessive immunologic disorder characterized by systemic hyperinflammation in the absence of an infectious agent or autoimmune trigger. Features include lymphadenopathy, hepatosplenomegaly, recurrent fever, and laboratory evidence of immune dysregulation with abnormal immune cell populations and increased serum levels of inflammatory cytokines. The phenotype is reminiscent of relapsing hemophagocytic lymphohistiocytosis (HLH; see FHL1, 267700) (summary by Tavernier et al., 2019).|OMIM|N|
C5436572|Autoinflammation, immune dysregulation, and eosinophilia (AIIDE) is an autosomal dominant disorder characterized by onset of severe atopic dermatitis and chronic gastrointestinal inflammation, mainly involving the colon, in infancy or early childhood. Affected individuals tend to have asthma and food or environmental allergies, as well as poor overall growth with short stature. Severe liver involvement has also been reported (Takeichi et al., 2021). Laboratory studies show increased eosinophils with normal or increased IgE levels, as well as evidence of a hyperactive immune state, including increased erythrocyte sedimentation rate and C-reactive protein. Treatment with JAK inhibitors, such as ruxolitinib and tofacitinib, results in dramatic clinical improvement (summary by Gruber et al., 2020).|OMIM|N|
C5436574|SETD1B-related neurodevelopmental disorder (SETD1B-NDD) is characterized by developmental delay (mainly affecting speech and language), intellectual disability, seizures, autism spectrum disorder or autism-like behaviors, and additional behavioral concerns. Speech delay and/or language disorder has been reported in most affected individuals. Delay in gross motor skills and mild-to-moderate intellectual disability are common. Most affected individuals have seizures with variable onset and seizure type. Behavioral issues including hyperactivity, aggression, anxiety, and sleep disorders have been reported in approximately half of individuals. Less common features include ophthalmologic manifestations and feeding issues.|GeneReviews|N|
C5436579|DEEAH syndrome is an autosomal recessive multisystemic disorder with onset in early infancy. Affected individuals usually present in the perinatal period with respiratory insufficiency, apneic episodes, and generalized hypotonia. The patients have failure to thrive and severely impaired global development with poor acquisition of motor, cognitive, and language skills. Other common features include endocrine, pancreatic exocrine, and autonomic dysfunction, as well as hematologic disturbances, mainly low hemoglobin. Patients also have dysmorphic and myopathic facial features. Additional more variable features include seizures, undescended testes, and distal skeletal anomalies. Death in early childhood may occur (summary by Schneeberger et al., 2020).|OMIM|N|
C5436585|Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia (NEDDISH) is an autosomal recessive disorder characterized by global developmental delay and mildly to severely impaired intellectual development with poor speech and language acquisition. Some patients may have early normal development with onset of the disorder in the first years of life. More variable neurologic abnormalities include hypotonia, seizures, apnea, mild signs of autonomic or peripheral neuropathy, and autism. Aside from dysmorphic facial features and occasional findings such as scoliosis or undescended testes, other organ systems are not involved (summary by Schneeberger et al., 2020).|OMIM|N|
C5436588|Retinitis pigmentosa-90 (RP90) is characterized by early-onset night blindness, within the first decade of life. Patients exhibit other typical features of RP, including retinal vessel attenuation, optic disc pallor, and retinal pigment epithelium (RPE) atrophy and pigmentation abnormalities. Macular pseudocoloboma and cystoid macular edema have also been observed (Pierrache et al., 2017).
For a discussion of genetic heterogeneity of RP, see 268000.|OMIM|N|
C5436597|Oocyte/zygote/embryo maturation arrest-8 (OZEMA8) is characterized by female infertility due to failure of the fertilized ovum to undergo zygotic cleavage (Zheng et al., 2020).
For a discussion of genetic heterogeneity of OZEMA, see 615774.|OMIM|N|
C5436598|Failure of a fertilized oocyte to undergo the first round of cell division.|HPO|N|
C5436599|Oocyte/zygote/embryo maturation arrest-9 (OZEMA9) is characterized by female infertility due to oocyte meiotic arrest at metaphase I in most patients. Abnormal zygotic cleavage has also been observed (Zhang et al., 2020).
For a discussion of genetic heterogeneity of OZEMA, see 615774.|OMIM|N|
C5436603|Rajab interstitial lung disease with brain calcifications-2 (RILDBC2) is an autosomal recessive disorder characterized by growth delay, interstitial lung disease, liver disease, and abnormal brain MRI findings, including brain calcifications and periventricular cysts (Krenke et al., 2019).
For a discussion of genetic heterogeneity of RILDBC, see RILDBC1 (613658).|OMIM|N|
C5436607|Follicular ichthyosis, atrichia, and photophobia syndrome-2 (IFAP2) is characterized by ichthyosis follicularis or follicular hyperkeratosis, sparse to no body hair, and photophobia with corneal lesions. Ultrastructural hair analysis shows trichorrhexis nodosa (Wang et al., 2020).
For a discussion of genetic heterogeneity of IFAP syndrome, see IFAP1 (308205).|OMIM|N|
C5436628|Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities (NEDSWMA) is an autosomal recessive disorder characterized by impaired psychomotor development apparent in infancy. Affected individuals show poor overall growth, progressive microcephaly, and axial hypotonia, with later onset of spasticity. The disorder is progressive. Some patients show normal early development, but later have regression of motor, cognitive, and language skills. More variable features include seizures, joint contractures, ocular disturbances, episodic respiratory failure, and nonspecific dysmorphic facial features. The intellectual impairment is variable, ranging from poor visual contact with inability to walk or speak to milder intellectual disability with the ability to say some words. Brain imaging shows variable white matter abnormalities, including thin corpus callosum and poor myelination (summary by Husain et al., 2020).|OMIM|N|
C5436637|Autosomal recessive spastic paraplegia-83 (SPG83) is a neurologic disorder characterized by progressive lower limb spasticity resulting in gait instability. Patients develop symptoms in the second decade, consistent with juvenile onset. Some patients may have myalgia or mild dysarthria, but the phenotype is considered to be a pure type of SPG with no additional neurologic abnormalities (summary by Husain et al., 2020).
For a discussion of genetic heterogeneity of autosomal recessive spastic paraplegia, see SPG5A (270800).|OMIM|N|
C5436638|Coenzyme Q10 deficiency-9 (COQ10D9) is an autosomal recessive disorder characterized by onset of cerebellar ataxia associated with cerebellar atrophy in the first decade of life. Some patients may have additional neurologic signs and symptoms, including intellectual disability and seizures. Treatment with CoQ10 may offer clinical benefit (summary by Malicdan et al., 2018).
For a general phenotypic description and a discussion of genetic heterogeneity of primary coenzyme Q10 deficiency, see COQ10D1 (607426).|OMIM|N|
C5436642|AMPK is a heterotrimeric protein that functions to maintain cellular and whole body energy homeostasis. Variation in the PRKAG3 subunit of AMPK has been linked to an increase in muscle glycogen content in pigs (Milan et al., 2000), mice (Garcia-Roves et al. (2008)), and humans (Costford et al., 2007).|OMIM|N|
C5436646|IDDEBF is a severe disorder characterized by impaired intellectual development, epilepsy, behavioral abnormalities, and coarse facies. Brain MRI findings may include delayed myelination in the deep parietal lobes (Kvarnung et al., 2018).|OMIM|N|
C5436647|Vissers-Bodmer syndrome (VIBOS) is characterized by global developmental delay with variably impaired intellectual development, speech delay, motor delay, and behavioral abnormalities apparent from infancy. The phenotype is highly variable: some individuals have only mild learning difficulties, whereas others have severe cognitive impairment with IQ in the 50s. Many patients have behavioral abnormalities, including autism spectrum disorder, ADD, ADHD, obsessive-compulsive disorder, and impulsivity. Other common features include growth impairment abnormalities, hypotonia, and distal skeletal defects, such as foot and hand deformities. Less common features include seizures, brain abnormalities on MRI, feeding problems, and joint hypermobility. Most individuals have dysmorphic facial features, but there is no recognizable gestalt (summary by Vissers et al., 2020).|OMIM|N|
C5436652|Myopathy, epilepsy, and progressive cerebral atrophy (MEPCA) is a severe autosomal recessive disorder with onset in utero or at birth. Affected individuals have hypotonia with respiratory or feeding difficulties apparent from birth and often associated with contractures of the large joints. There is little spontaneous movement: skeletal muscle biopsy and electrophysiologic studies are consistent with a myopathy or myasthenic disorder. Patients also develop refractory seizures with burst-suppression pattern or hypsarrhythmia on EEG. Brain imaging shows progressive cerebral atrophy and myelination defects. All patients reported to date died within the first year of life (summary by Schorling et al., 2017).|OMIM|N|
C5436656|Myofibrillar myopathy-10 (MFM10) is an autosomal recessive structural muscle disorder characterized by onset of muscle pain, cramping, and exercise fatigue in the first or second decades of life. Some patients have mild contractures of the large joints apparent in early childhood. Affected individuals have a characteristic appearance of a thick neck and prominent shoulder girdle with anteverted shoulders and a tendency toward kyphosis. There is no apparent muscle weakness, but some affected individuals show progressive muscle rigidity leading to limited mobility. There is variable cardiac involvement, ranging from chest pain with left ventricular hypertrophy to subclinical signs such as abnormal EKG or elevated cardiac enzymes. Skeletal muscle biopsy shows structural abnormalities with myofibrillar disorganization and accumulation of autophagocytic vacuoles (summary by Hedberg-Oldfors et al., 2020).
For a general phenotypic description and a discussion of genetic heterogeneity of myofibrillar myopathy, see MFM1 (601419).|OMIM|N|
C5436668|Monosomy 7 myelodysplasia and leukemia syndrome-2 (M7MLS2) is an autosomal dominant hematologic disorder characterized by onset of pancytopenia, acute myelogenous leukemia (AML), and variable features of myelodysplastic syndrome (MDS) usually in the first decades of life. Bone marrow cells show monosomy 7. Germline mutations in the SAMD9 gene, located on chromosome 7q, have a gain-of-function suppressive effect on the cell cycle, resulting in decreased cellular proliferation. It is hypothesized that this germline defect leads to selective pressure favoring somatic loss of the chromosome 7 harboring the mutant allele (adaptation by aneuploidy) (summary by Wong et al., 2018).
For a discussion of genetic heterogeneity of monosomy 7 myelodysplasia and leukemia syndrome, see 252270.|OMIM|N|
C5436669|The phenotypic spectrum of GARS1-associated axonal neuropathy ranges from GARS1 infantile-onset SMA (GARS1-iSMA) to GARS1 adolescent- or early adult-onset hereditary motor/sensory neuropathy (GARS1-HMSN). GARS1-iSMA. Age of onset ranges from the neonatal period to the toddler years. Initial manifestations are typically respiratory distress, poor feeding, and muscle weakness (distal greater than proximal). Weakness is slowly progressive, ultimately requiring mechanical ventilation and feeding via gastrostomy tube. GARS1-HMSN. Age of onset is most commonly during the second decade (range eight to 36 years). Initial manifestations are typically muscle weakness in the hands sometimes with sensory deficits. Lower limb involvement (seen in ~50% of individuals) ranges from weakness and atrophy of the extensor digitorum brevis and weakness of toe dorsiflexors to classic peroneal muscular atrophy with foot drop and a high steppage gait.|GeneReviews|N|
C5436678|Spermatogenic failure-44 (SPGF44) is characterized by male infertility due to headless sperm in the ejaculate (Sha et al., 2020).
For a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).|OMIM|N|
C5436680|A reduced proportion of sperm that move in a straight line or large circles; alternatively, an increased proportion of sperm that move in tight circles or in some other non-linear fashion.|HPO|N|
C5436682|Mitochondrial complex IV deficiency nuclear type 3 (MC4DN3) is an autosomal recessive multisystem metabolic disorder with a highly variable phenotype. Some patients present with encephalomyopathic features in early infancy, whereas others may present later in infancy or the first years of life after normal early development. Affected individuals show hypotonia, failure to thrive, and developmental delay or regression with poor eye contact and loss of motor skills with ataxia. Additional features observed in some patients include proximal renal tubulopathy, macrocytic anemia, sensorineural hearing loss, nystagmus, and hypertrophic cardiomyopathy, consistent with systemic involvement. Brain imaging in most patients shows lesions consistent with Leigh syndrome (see 256000). Laboratory studies show increased serum lactate and decreased levels and activity of mitochondrial respiratory complex IV. Most patients die in infancy (summary by Valnot et al., 2000 and Antonicka et al., 2003).
For a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see 220110.|OMIM|N|
C5436683|Mitochondrial complex IV deficiency nuclear type 4 (MC4DN4) is an autosomal recessive multisystem metabolic disorder characterized by the onset of symptoms in infancy. Affected individuals show hypotonia, failure to thrive, and neurologic distress. Additional features include hepatomegaly, hepatic steatosis, increased serum lactate, and metabolic acidosis. Some patients may develop hypertrophic cardiomyopathy. Patient tissues show decreased levels and activity of mitochondrial respiratory complex IV. Death usually occurs in infancy (summary by Valnot et al., 2000 and Stiburek et al., 2009).
For a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see 220110.|OMIM|N|
C5436685|Mitochondrial complex IV deficiency nuclear type 7 (MC4DN7) is an autosomal recessive metabolic encephalomyopathic disorder with highly variable manifestations. Only a few patients have been reported. Some patients have normal early development then show rapid neurodegeneration with progressive muscle weakness, gait disturbances, and cognitive decline in mid to late childhood. Other features may include seizures and visual impairment. Brain imaging shows progressive leukodystrophy with cystic lesions. In contrast, at least 1 patient has been reported who presented in the neonatal period with metabolic acidosis, hydrocephalus, hypotonia, and cortical blindness. This patient developed hypertrophic cardiomyopathy resulting in early death. All patients had increased serum lactate and decreased levels and activity of mitochondrial respiratory complex IV (summary by Massa et al., 2008 and Abdulhag et al., 2015).
For a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see 220110.|OMIM|N|
C5436689|Mitochondrial complex IV deficiency nuclear type 8 (MC4DN8) is an autosomal recessive metabolic disorder characterized by the onset of neuromuscular symptoms in the first decade of life after normal early development. Affected individuals develop a slowly progressive decline in neurologic function with gait difficulties, spasticity, dysarthria, hypotonia, and variable intellectual disability. Other features may include facial hypotonia, optic atrophy with visual impairment, nystagmus, muscle rigidity, and loss of ambulation. Rare patients may have renal tubulopathy. Brain imaging shows T2-weighted hyperintensities in the basal ganglia, consistent with a clinical diagnosis of Leigh syndrome (see 256000). Serum lactate is often increased, and patient tissues show decreased levels and activity of mitochondrial respiratory complex IV (summary by Seeger et al., 2010).
For a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see 220110.|OMIM|N|
C5436692|Mitochondrial complex IV deficiency nuclear type 10 (MC4DN10) is an autosomal recessive multisystem metabolic disorder characterized by the onset of severe symptoms soon after birth. Affected infants have respiratory and neurologic distress, metabolic lactic acidosis, and dysmorphic features, including microphthalmia. Death occurs in early infancy. Postmortem examination has demonstrated systemic involvement with hepatomegaly, hypertrophic cardiomyopathy, renal hypoplasia, and adrenal hyperplasia. There is also abnormal brain myelination and cavitating brain lesions. Patient tissues show decreased levels and activity of mitochondrial respiratory complex IV (summary by Weraarpachai et al., 2012).
For a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see 220110.|OMIM|N|
C5436694|Mitochondrial complex IV deficiency nuclear type 11 (MC4DN11) is an autosomal recessive metabolic disorder characterized by a childhood-onset sensory neuronopathy and additional features which may include hypotonia, cerebellar ataxia, tremor, dystonia, choreoathetosis, and/or dysarthria. Patients may have variable motor delay, speech delay, or impaired intellectual development (summary by Doss et al., 2014; Otero et al., 2019; Xu et al., 2019; Dong et al., 2021).
For a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see 220110.|OMIM|N|
C5436695|Mitochondrial complex IV deficiency nuclear type 12 (MC4DN12) is an autosomal recessive metabolic disorder characterized by the onset of neurologic dysfunction in early infancy. Affected individuals demonstrate hypotonia with poor head control, profoundly delayed global development with inability to fix and follow, poor overall growth, abnormal spasms or myoclonus, and seizures. Most patients die in the first years of life; those that survive have spastic quadriplegia, feeding difficulties necessitating tube feeding, and profoundly impaired intellectual development with poor or absent communication. More variable features include cortical blindness, nystagmus, scoliosis, and hearing impairment. Brain imaging shows abnormalities consistent with Leigh syndrome (see 256000), as well as cystic cavitation. Laboratory studies show lactic acidosis, increased serum creatine kinase, and decreased levels and activity of mitochondrial respiratory complex IV (summary by Lim et al., 2014).
For a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see 220110.|OMIM|N|
C5436699|Neurodevelopmental disorder with speech impairment and dysmorphic facies (NEDSID) is characterized by developmental delay associated with mild to moderately impaired intellectual development or learning difficulties, behavioral or psychiatric abnormalities, and delayed speech and language acquisition. Additional features include dysmorphic facies, distal limb anomalies, gastrointestinal problems or feeding difficulties, and hypotonia. The phenotypic features and severity of the disorder are variable (summary by Kummeling et al., 2021).|OMIM|N|
C5436703|Combined oxidative phosphorylation deficiency-51 (COXPD51) is an autosomal recessive disorder characterized by a Leigh syndrome phenotype (see 256000).
For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060).|OMIM|N|
C5436710|Mitochondrial complex IV deficiency nuclear type 14 (MC4DN14) is an autosomal recessive metabolic disorder characterized by global developmental delay, exercise intolerance, walking difficulties, impaired intellectual development, short stature, mild dysmorphic features, and sensorimotor peripheral neuropathy. Patient skeletal muscle tissue shows decreased levels and activity of mitochondrial respiratory complex IV (Ostergaard et al., 2015).
For a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see 220110.|OMIM|N|
C5436712|Mitochondrial complex IV deficiency nuclear type 15 (MC4DN15) is an autosomal recessive multisystem metabolic disorder characterized by the onset of symptoms in infancy. Affected individuals show global developmental delay, poor feeding, short stature with microcephaly, proximal muscle weakness, and distal spasticity. Other manifestations include scoliosis, primary pulmonary hypertension, childhood-onset refractory seizures, and inability to walk. Brain imaging shows features consistent with Leigh syndrome (see 256000) and enlarged ventricles. Laboratory studies show increased serum and CSF lactate, as well as decreased levels and activity of mitochondrial respiratory complex IV (summary by Hallmann et al., 2016).
For a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see 220110.|OMIM|N|
C5436714|Mitochondrial complex IV deficiency nuclear type 16 (MC4DN16) is an autosomal recessive metabolic disorder with highly variable manifestations. Common features include failure to thrive with poor overall growth, short stature, and microcephaly. Some patients additionally have neurologic involvement, including developmental regression with severe hypotonia, feeding difficulties, and seizures. Brain imaging in the more severely affected patients shows cerebral and cerebellar atrophy and abnormal lesions in the basal ganglia. In all cases, patient tissues show variably decreased levels and activity of mitochondrial respiratory complex IV (summary by Pillai et al., 2019).
For a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see 220110.|OMIM|N|
C5436718|Mitochondrial complex IV deficiency nuclear type 17 (MC4DN17) is an autosomal recessive neurometabolic disorder with somewhat variable clinical manifestations and severity. Most affected individuals present in early childhood with motor and gait difficulties after normal early development. These motor abnormalities progress to spastic tetraparesis, sometimes resulting in loss of ambulation. Many patients also show episodic developmental regression: some have impaired cognition and dysarthria, although others have normal speech and cognition. More variable features include seizures and sensorimotor polyneuropathy. The clinical features tend to stabilize over time. Brain imaging shows a cavitating leukodystrophy, and laboratory studies show variably decreased levels and activity of mitochondrial respiratory complex IV in patient tissues (Melchionda et al., 2014).
For a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see 220110.|OMIM|N|
C5436720|Mitochondrial complex IV deficiency nuclear type 18 (MC4DN18) is an autosomal recessive metabolic disorder that primarily affects skeletal muscle tissue. Affected individuals present in infancy with hypotonia, limb muscle weakness, and high-arched palate. The severity of the disorder is variable: some patients may only have gait difficulties, whereas others may also have significant respiratory insufficiency and cardiomyopathy. Death in infancy has been reported. Patient skeletal muscle shows decreased levels and activity of mitochondrial respiratory complex IV (Inoue et al., 2019).
For a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see 220110.|OMIM|N|
C5436723|Mitochondrial complex IV deficiency nuclear type 19 (MC4DN19) is an autosomal recessive multisystem metabolic disorder characterized by the onset of symptoms in infancy or early childhood. Affected individuals show global developmental delay and developmental regression with a loss of acquired motor and language skills. Additional features include motor dysfunction, such as hypokinesia and pyramidal signs. More variable features may include recurrent infections with immunodeficiency and possibly protein-losing enteropathy. Serum lactate is increased; T2-weighted lesions in the medulla oblongata have also been reported. Patient tissues show decreased levels and activity of mitochondrial respiratory complex IV (Renkema et al., 2017).
For a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see 220110.|OMIM|N|
C5436726|Mitochondrial complex IV deficiency nuclear type 20 (MC4DN20) is an autosomal recessive multisystem metabolic disorder characterized by the onset of symptoms in infancy. Affected individuals show hypotonia, failure to thrive, and global developmental delay. Additional features include elevated liver enzymes, increased serum lactate, metabolic acidosis, and pulmonary arterial hypertension (PAH), which may result in cardiorespiratory failure and early death. Patient tissues show variably decreased levels and activity of mitochondrial respiratory complex IV (Baertling et al., 2017).
For a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see 220110.|OMIM|N|
C5436727|Mitochondrial complex IV deficiency nuclear type 21 (MC4DN21) is an autosomal recessive multisystem metabolic disorder characterized by the onset of symptoms in infancy. Affected individuals present with congenital lactic acidosis and later show global developmental delay with delayed speech and learning disabilities. Additional features include motor dysfunction manifest as spasticity, dystonia, and pyramidal tract signs. Ataxia, peripheral neuropathy, and seizures may also occur. Brain imaging shows T2-weighted hyperintensities in subcortical regions, consistent with a clinical diagnosis of Leigh syndrome (see 256000). Patient tissues show variably decreased levels and activity of mitochondrial respiratory complex IV (Pitceathly et al., 2013).
For a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see 220110.|OMIM|N|
C5436730|Hypomyelinating leukodystrophy-20 (HLD20) is an autosomal recessive neurodegenerative disorder characterized by the loss of developmental milestones at about 12 to 16 months of age after normal early development. Patients lose motor, language, and cognitive skills and show poor overall growth with microcephaly. The disorder is progressive, resulting in feeding difficulties and spastic quadriplegia. Some patients may have seizures. Brain imaging shows subcortical white matter abnormalities and a thin corpus callosum, suggesting a myelination defect. Death usually occurs in childhood (Al-Abdi et al., 2020).
For a discussion of genetic heterogeneity of HLD, see 312080.|OMIM|N|
C5436732|Neurodevelopmental disorder with seizures and brain atrophy (NEDSEBA) is an autosomal recessive disorder with highly variable manifestations and severity of these core features. The most severely affected individuals develop symptoms in utero, which may lead to spontaneous abortion or planned termination. Those that survive may present with severe seizures at birth, have poor overall growth with small head circumference, achieve no developmental progress, and show significant brain atrophy and other brain abnormalities. Patients at the mildest end of the phenotypic spectrum have onset of seizures later in childhood and show developmental delay with mildly impaired intellectual development and minimal brain atrophy (summary by Coulter et al., 2020).|OMIM|N|
C5436733|Vitamin D-dependent rickets-3 (VDDR3) is characterized by early-onset rickets, reduced serum levels of the vitamin D metabolites 25-hydroxyvitamin D and 1,25-dihydroxyvitamin D, and deficient responsiveness to the parent molecule as well as activated forms of vitamin D (Roizen et al., 2018).
For discussion of genetic heterogeneity of vitamin D-dependent rickets, see 264700.|OMIM|N|
C5436739|Cleft palate, proliferative retinopathy, and developmental delay (CPPRDD) is characterized by motor and speech delay, with intellectual disability ranging from mild to severe. Brain imaging shows ventriculomegaly as well as other malformations (Harel et al., 2019).|OMIM|N|
C5436741|Bachmann-Bupp syndrome (BABS) is characterized by a distinctive type of alopecia, global developmental delay in the moderate to severe range, hypotonia, nonspecific dysmorphic features, behavioral abnormalities (autism spectrum disorder, attention-deficit/hyperactivity disorder) and feeding difficulties. Hair is typically present at birth but may be sparse and of an unexpected color with subsequent loss of hair in large clumps within the first few weeks of life. Rare findings may include seizures with onset in later childhood and conductive hearing loss.|GeneReviews|N|
C5436747|Neurodevelopmental disorder with microcephaly, seizures, and brain atrophy (NEDMISB) is an autosomal recessive disorder characterized by severe global developmental delay, developmental regression with loss of milestones, severe microcephaly, and brain abnormalities, primarily cerebral atrophy and hypoplasia of the corpus callosum. Affected individuals develop seizures in the first year of life; eventually they are unable to sit, feed, or communicate, and may be unresponsive to stimuli. Other features include muscle weakness, spasticity with hyperreflexia, irritability, and contractures (Coulter et al., 2020).|OMIM|N|
C5436750|Inflammatory bowel disease-30 (IBD30) is characterized by abdominal pain and watery or bloody diarrhea, with changes in the intestinal tract consistent with Crohn disease (Mao et al., 2018).
For a general description and a discussion of genetic heterogeneity of inflammatory bowel disease, including Crohn disease (CD) and ulcerative colitis (UC), see IBD1 (266600).|OMIM|N|
C5436756|Kilquist syndrome (KILQS) is an autosomal recessive multisystem disorder characterized by neurologic, gastrointestinal, and secretory dysfunction. Affected individuals present at birth with hypotonia, feeding difficulties, mild dysmorphic features, and sensorineural hearing loss. They show poor overall growth associated with gastrointestinal anomalies such as gastroesophageal reflux or midgut malrotation, as well as profound global developmental delay with inability to sit or speak. Tear, sweat, and saliva production is also impaired, causing dry mouth and recurrent bronchial mucus plugging. Some of the clinical features are reminiscent of cystic fibrosis (CF; 219700) (summary by Stodberg et al., 2020).|OMIM|N|
C5436761|Failure to record otoacoustic emissions (OAE), i.e., sounds generated from the cochlea in response to an acoustic stimulus and transmitted across the middle ear to the external ear canal.|HPO|N|
C5436768|Autosomal dominant deafness-78 (DFNA78) is characterized by profound congenital bilateral sensorineural hearing loss affecting all frequencies. Some patients may have mild motor delay early in life due to vestibular dysfunction, although the motor skills catch up with age. Affected individuals do not have systemic or other neurologic manifestations (summary by Mutai et al., 2020).|OMIM|N|
C5436769|Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma-1 (MRCS1) is characterized by poor visual acuity in early childhood. Congenital cataract and microcornea are followed by rod-cone dystrophy, with later development of posterior staphyloma (Cai et al., 2019).
Genetic Heterogeneity of Microcornea, Rod-Cone Dystrophy, Cataract, and Posterior Staphyloma
MRCS2 (see 193220) is caused by mutation in the BEST1 gene (607854) on chromosome 11q12; 1 such family has been reported.|OMIM|N|
C5436771|Delpire-McNeill syndrome (DELMNES) is a neurodevelopmental disorder with highly variable manifestations. Patients present in infancy with global developmental delay, including motor, speech, and impaired intellectual development. The most severely affected patients have hypotonia, inability to hold their head or walk, bilateral sensorineural deafness, and absent language, whereas others have delayed walking and mild to moderate intellectual disability, often with speech delay and autistic features. More variable features may include spasticity or minor involvement of other organ systems, such as hip dislocation or ventricular septal defect (summary by McNeill et al., 2020).|OMIM|N|
C5436772|Autosomal dominant deafness-79 (DFNA79) is a nonsyndromic form of progressive sensorineural hearing loss with age of onset ranging from 20 years to 65 years. Affected females appear to have milder hearing loss than males (Lu et al., 2020).|OMIM|N|
C5436773|Noonan syndrome (NS) is characterized by characteristic facies, short stature, congenital heart defect, and developmental delay of variable degree. Other findings can include broad or webbed neck, unusual chest shape with superior pectus carinatum and inferior pectus excavatum, cryptorchidism, varied coagulation defects, lymphatic dysplasias, and ocular abnormalities. Although birth length is usually normal, final adult height approaches the lower limit of normal. Congenital heart disease occurs in 50%-80% of individuals. Pulmonary valve stenosis, often with dysplasia, is the most common heart defect and is found in 20%-50% of individuals. Hypertrophic cardiomyopathy, found in 20%-30% of individuals, may be present at birth or develop in infancy or childhood. Other structural defects include atrial and ventricular septal defects, branch pulmonary artery stenosis, and tetralogy of Fallot. Up to one fourth of affected individuals have mild intellectual disability, and language impairments in general are more common in NS than in the general population.|GeneReviews|N|
C5436781|Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy (DIGFAN) is a complex neurologic disorder characterized by impaired motor and intellectual development, hypotonia, poor overall growth, usually with short stature and microcephaly, and subtly dysmorphic facial features. Affected individuals have distal muscle weakness and muscle atrophy resulting in delayed acquisition of motor skills and persistent gait abnormalities. Although many patients have clinical and/or electrophysiologic features consistent with an axonal sensorimotor peripheral neuropathy, such as hyporeflexia, impaired sensation, foot drop, and pes cavus, the signs and severity are highly variable. Additional features may include hearing loss, pigmentary retinopathy, and abnormalities on brain imaging, including cerebral or cerebellar atrophy, hypomyelination, and lesions in the basal ganglia or brainstem. In some instances, the same mutation may result in different phenotypic manifestations (CMT2Z or DIGFAN syndrome), which highlights the expanding clinical spectrum associated with MORC2 mutations and may render classification of patients into one or the other disorder challenging (summary by Guillen Sacoto et al., 2020).|OMIM|N|
C5436783|Neurodevelopmental disorder with microcephaly, language delay, and gait abnormalities (NEDMILG) is an autosomal recessive disorder characterized by global developmental delay apparent in infancy. Affected individuals have delayed walking with variable gait abnormalities, impaired intellectual development with poor or absent speech and language, and progressive microcephaly. More variable features include hypotonia, early-onset seizures, and a peripheral demyelinating or axonal peripheral sensorimotor neuropathy. The disease follows a neurodegenerative course in many patients; clinical features suggest involvement of both the central and peripheral nervous systems (Manole et al., 2020).|OMIM|N|
C5436788|Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities (NEDMILEG) is characterized by global developmental delay apparent in infancy. Affected individuals have delayed walking with variable gait abnormalities, including ataxia and spasticity, impaired intellectual development with poor or absent speech and language, and progressive microcephaly. Dysmorphic facial features may also be observed. Most patients have early-onset seizures; some may develop a demyelinating peripheral neuropathy. The clinical features suggest involvement of both the central and peripheral nervous systems (Manole et al., 2020).|OMIM|N|
C5436789|Autosomal recessive deafness-116 (DFNB116) is characterized by slowly progressive moderate to profound sensorineural hearing loss (SNHL), with a steeply sloping audiogram in the high frequencies in younger patients (Sineni et al., 2019).|OMIM|N|
C5436791|Spermatogenic failure-45 (SPGF45) is characterized by male infertility due to severe teratozoospermia. Sperm in affected men exhibit multiple morphologic abnormalities of the flagella (MMAF), including flagella that are short, absent, coiled, angulated, and/or of irregular caliber; some sperm also show abnormalities of the head. Ultrastructural analysis shows severe disruption of the axonemal complex and mitochondrial sheath (Li et al., 2019).
For a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).|OMIM|N|
C5436799|Spermatogenic failure-46 (SPGF46) is characterized by male infertility due to asthenoteratozoospermia. Sperm of affected men exhibit multiple morphologic abnormalities of the flagella (MMAF), including flagella that are absent, short, coiled, angulated, and/or of irregular caliber. Ultrastructural analysis shows disorganization of axonemal and periaxonemal structures (Liu et al., 2020).
For a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).|OMIM|N|
C5436806|Mismatch repair cancer syndrome-2 (MMRCS2) is an autosomal recessive childhood cancer predisposition syndrome characterized by hematologic malignancy, brain tumors, and gastrointestinal tumors. Multiple cafe-au-lait spots reminiscent of neurofibromatosis type I (NF1; 162200) may be present. Microsatellite instability may be detected in tumor samples (Muller et al., 2006).
For a discussion of genetic heterogeneity of mismatch repair cancer syndrome (MMRCS), see MMRCS1 (276300).|OMIM|N|
C5436807|Mismatch repair cancer syndrome-3 (MMRCS3) is an autosomal recessive childhood cancer predisposition syndrome characterized by brain tumors, hematologic malignancy, and gastrointestinal tumors. Multiple cafe-au-lait spots, axillary freckling, and, rarely, Lisch nodules reminiscent of neurofibromatosis type I (NF1; 162200) may be present (Hegde et al., 2005, Ostergaard et al., 2005). Microsatellite instability may be detected in tumor samples (Hegde et al., 2005).
For a discussion of genetic heterogeneity of mismatch repair cancer syndrome, see MMRCS1 (276300).|OMIM|N|
C5436813|Intellectual developmental disorder with speech delay and axonal peripheral neuropathy (IDDSAPN) is an autosomal recessive neurologic disorder characterized by mild global developmental delay with motor impairment and severe speech delay apparent in the first years of life. Affected individuals begin to walk independently between 3 and 4 years of age, but often have an unsteady or ataxic gait. Most patients have progressive distal muscle weakness and atrophy of the lower limbs, foot or hand deformities, and dysarthria, consistent with a peripheral neuropathy. There is mildly impaired intellectual development. Some patients may have behavioral anomalies, such as autistic features or attention deficit-hyperactivity disorder (ADHD), and some can attend special schools. The overall clinical features indicate involvement of both the central and peripheral nervous systems (summary by Martin et al., 2020 and Ahmed et al., 2021)|OMIM|N|
C5436817|Mismatch repair cancer syndrome-4 (MMRCS4) is an autosomal recessive childhood cancer predisposition syndrome characterized by early-onset leukemia/lymphoma, brain tumors, colorectal/gastrointestinal cancers, and other rare malignancies, including rhabdomyosarcoma (summary by Li et al., 2015). Cafe-au-lait spots are usually present (De Vos et al., 2006).
For a discussion of genetic heterogeneity of mismatch repair cancer syndrome, see MMRCS1 (276300).|OMIM|N|
C5436818|Spermatogenic failure-47 (SPGF47) is characterized by male infertility due to asthenoteratospermia. Affected individuals have reduced sperm concentrations and spermatozoa are immotile, with short or absent flagella as well as centriolar abnormalities (Lv et al., 2020).
For a discussion of genetic heterogeneity of spermatogenic failure, see 258150.|OMIM|N|
C5436821|Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities (NEDFASB) is a syndromic disorder with multisystemic involvement. Affected individuals have severe global developmental delay with severely impaired intellectual development, poor or absent language, behavioral abnormalities, seizures, and sleep disturbances. Craniofacial dysmorphisms, while variable, include round face, prognathism, depressed nasal bridge, and cleft or high-arched palate. Brain imaging shows dysgenesis of the corpus callosum and progressive cerebellar atrophy. Additional features may include genitourinary tract anomalies, hearing loss, and mild distal skeletal defects (summary by Humbert et al., 2020).|OMIM|N|
C5436823|Spermatogenic failure-48 (SPGF48) is characterized by male infertility due to a variable spectrum of severely impaired spermatogenesis, primarily at meiosis and resulting in azoospermia. However, sparse postmeiotic germ cell development and retrieval of sperm in some cases has been reported (Wyrwoll et al., 2020).
For a discussion of genetic heterogeneity of spermatogenic failure, see 258150.|OMIM|N|
C5436834|Distal arthrogryposis type 1C (DA1C) is characterized by multiple congenital contractures, scoliosis, and short stature. Contractures involving the proximal joints appear to be more common in MYLPF-associated DA than in other forms of DA, and segmental amyoplasia has been observed (Chong et al., 2020).|OMIM|N|
C5436837|COACH syndrome is classically defined as Cerebellar vermis hypoplasia, Oligophrenia, Ataxia, Colobomas, and Hepatic fibrosis (Verloes and Lambotte, 1989). Brain MRI demonstrates the molar tooth sign, which is a feature of Joubert syndrome. The disorder has been described as a Joubert syndrome-related disorder with liver disease (summary by Doherty et al., 2010).
For a general phenotypic description and a discussion of genetic heterogeneity of COACH syndrome, see 216360.|OMIM|N|
C5436838|Autosomal dominant distal hereditary motor neuronopathy-13 (HMND13) is a neurologic disorder characterized by distal muscle weakness and atrophy affecting both the upper and lower limbs, resulting in difficulty walking and poor fine hand motor skills. Some patients show spasticity and hyperreflexia, mainly of the lower limbs: these features overlap with those observed in Silver syndrome, an allelic disorder. In addition, some patients with BSCL2 mutations show features of Charcot-Marie-Tooth type 2 (CMT2) with distal sensory impairment. HMND13, Silver syndrome (SPG17), and features of axonal sensorimotor peripheral neuropathy (CMT2) thus represent a phenotypic spectrum associated with heterozygous mutations in the BSCL2 gene. Individuals with the same mutation may manifest features consistent with any of those disorders; variability is even observed within the same family (summary by Van de Warrenburg et al., 2006; Luigetti et al., 2010; Choi et al., 2013).
For a general phenotypic description and a discussion of genetic heterogeneity of distal HMN, see HMND1 (182960).|OMIM|N|
C5436841|COACH syndrome is classically defined as Cerebellar vermis hypoplasia, Oligophrenia, Ataxia, Colobomas, and Hepatic fibrosis (Verloes and Lambotte, 1989). Brain MRI demonstrates the molar tooth sign, which is a feature of Joubert syndrome. The disorder has been described as a Joubert syndrome-related disorder with liver disease (summary by Doherty et al., 2010).
For a general phenotypic description and a discussion of genetic heterogeneity of COACH syndrome, see 216360.|OMIM|N|
C5436842|Combined osteogenesis imperfecta and Ehlers-Danlos syndrome-1 (OIEDS1) is an autosomal dominant generalized connective tissue disorder characterized by features of both osteogenesis imperfecta (bone fragility, long bone fractures, blue sclerae) and Ehlers-Danlos syndrome (joint hyperextensibility, soft and hyperextensible skin, abnormal wound healing, easy bruising, vascular fragility) (summary by Cabral et al., 2007; Malfait et al., 2013).
Genetic Heterogeneity of Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome
Also see OIEDS2 (619120), caused by mutation in the COL1A2 gene (120160) on chromosome 7q21.|OMIM|N|
C5436847|Combined osteogenesis imperfecta and Ehlers-Danlos syndrome-2 (OIEDS2) is an autosomal dominant generalized connective tissue disorder characterized by features of both osteogenesis imperfecta (bone fragility, long bone fractures, blue sclerae) and Ehlers-Danlos syndrome (joint hyperextensibility, soft and hyperextensible skin, abnormal wound healing, easy bruising, vascular fragility) (summary by Raff et al., 2000 and Malfait et al., 2013).
For a discussion of genetic heterogeneity of combined osteogenesis imperfecta and Ehlers-Danlos syndrome, see 619115.|OMIM|N|
C5436848|Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities (NEDCASB) is an autosomal recessive multisystemic disorder characterized by global neurodevelopmental delay, severely impaired intellectual development, poor overall growth, and spasticity of the lower limbs resulting in gait difficulties. Most affected individuals also develop progressive hypertrophic cardiomyopathy in childhood or have cardiac developmental anomalies. Additional more variable features include dysmorphic facies and axonal sensory peripheral neuropathy. Brain imaging tends to show thin corpus callosum and polymicrogyria (summary by Garcia-Cazorla et al., 2020).|OMIM|N|
C5436851|Vertebral hypersegmentation and orofacial anomalies (VHO) is characterized by supernumerary cervical, thoracic, and/or lumbar vertebrae, in association with supernumerary ribs. Most patients also exhibit orofacial clefting and ear anomalies (Cox et al., 2019).|OMIM|N|
C5436852|Cardiofacioneurodevelopmental syndrome (CFNDS) is characterized by microcephaly, midline facial defects, developmental delay, and cerebellar hypoplasia. Variable cardiac defects may be present, including atrioventricular canal and ventricular septal defects. Heterotaxy has also been reported (Harel et al., 2020).|OMIM|N|
C5436853|Developmental and epileptic encephalopathy-89 (DEE89) is a severe autosomal recessive disorder characterized by profound global developmental delay with impaired intellectual development, absent speech, inability to sit or walk due to axial hypotonia and spastic quadriparesis, and onset of seizures in the first days or months of life. EEG shows suppression-burst pattern or hypsarrhythmia, consistent with DEE or a clinical diagnosis of West syndrome. More variable features include joint contractures with foot deformities, dysmorphic facial features with cleft palate, and omphalocele. Affected individuals have poor motor skills, poor eye contact, and lack of language development; some die in infancy or early childhood. Brain imaging may be normal or show nonspecific abnormalities (summary by Chatron et al., 2020).|OMIM|N|
C5436856|Kaya-Barakat-Masson syndrome (KABAMAS) is a severe autosomal recessive neurodevelopmental disorder characterized by profoundly impaired global development with variable motor abnormalities, such as axial hypotonia, peripheral spasticity, dystonia, and poor coordination, resulting in the inability to sit or walk. Affected individuals have impaired intellectual development with absent speech, poor eye contact, and feeding difficulties, resulting in poor overall growth, sometimes with microcephaly. Dysmorphic features are generally not present. Additional more variable features include early-onset seizures, ocular anomalies, foot deformities, and nonspecific brain imaging findings, such as thin corpus callosum and cerebral, cerebellar, or pontine atrophy. Some patients may die in infancy or early childhood (summary by AlMuhaizea et al., 2020 and Diaz et al., 2020).|OMIM|N|
C5436860|Immunodeficiency-75 with lymphoproliferation (IMD75) is an autosomal recessive immunologic disorder characterized by immunodeficiency, immune dysregulation, and the development of lymphoproliferative disorders, including lymphoma. Affected individuals usually present in infancy with severe and recurrent infections, mainly viral and affecting the respiratory tract. Some patients may have autoimmune cytopenias, anemia, or thrombocytopenia. Patients also develop hepatosplenomegaly, lymphadenopathy, lymphoproliferative disorders, and various types of T- or B-cell lymphomas. Immunologic work-up shows decreased class-switched B cells, impaired B-cell terminal differentiation, and hypo- or hypergammaglobulinemia. There is skewed differentiation and dysregulation of T cells, as well as possibly disrupted hematopoiesis. Additional features include failure to thrive and global developmental delay. The phenotype may be reminiscent of ALPS (601859), including laboratory evidence of impaired Fas-dependent T-cell apoptosis. Although hematopoietic stem cell transplantation may be effective treatment, many patients die in childhood (summary by Stremenova Spegarova et al., 2020).|OMIM|N|
C5436867|Mandibuloacral dysplasia progeroid syndrome (MDPS) is an autosomal recessive severe laminopathy-like disorder characterized by growth retardation, bone resorption, arterial calcification, renal glomerulosclerosis, and hypertension (Elouej et al., 2020).|OMIM|N|
C5436874|Thrombocytopenia-7 (THC7) is an autosomal dominant disorder characterized by reduced peripheral platelet count. The expression and severity of the disorder is highly variable: some patients have no bleeding symptoms, whereas other have recurrent petechiae, epistaxis, or more severe bleeding episodes. A common finding is decreased alpha-granules in the platelets. There are variable findings on light and electron microscopic analysis: some patients have normal platelet morphology, whereas others show abnormal platelet morphology with cytoskeletal defects. Flow cytometric studies may show reduced expression of platelet membrane glycoproteins and activation markers (summary by Lentaigne et al., 2019 and Leinoe et al., 2021).
For a general phenotypic description and a discussion of genetic heterogeneity of thrombocytopenia, see 313900.|OMIM|N|
C5436875|Osteogenesis imperfecta type XXI (OI21) is a progressively deforming disorder, characterized by multiple fractures that often occur after minor trauma. Fractures may be present at birth in some affected individuals. Patients exhibit disproportionate short stature and scoliosis, and are often wheelchair-bound by adulthood (van Dijk et al., 2020).|OMIM|N|
C5436881|Frontotemporal dementia and/or amyotrophic lateral sclerosis-8 (FTDALS8) is an autosomal dominant neurodegenerative disorder characterized by adult-onset dementia manifest as memory impairment, executive dysfunction, and behavioral or personality changes. Some patients may develop ALS or parkinsonism. Neuropathologic studies show frontotemporal lobar degeneration (FTLD) with tau (MAPT; 157140)- and TDP43 (605078)-immunoreactive inclusions (summary by Dobson-Stone et al., 2020).
For a discussion of genetic heterogeneity of FTDALS, see FTDALS1 (105550).|OMIM|N|
C5436882|Amyotrophic lateral sclerosis-26 with or without frontotemporal dementia (ALS26) is an autosomal dominant neurodegenerative disorder characterized by adult onset of upper and low motor neuron disease causing bulbar dysfunction and limb weakness (ALS). Patients may also develop frontotemporal dementia (FTD) manifest as primary progressive aphasia, memory impairment, executive dysfunction, and behavioral or personality changes. Although patients may present with 1 or the other diseases, all eventually develop ALS. Neuropathologic studies of the brain and spinal cord show TDP43 (605078)-immunoreactive cytoplasmic inclusions that correlate with clinical features and Lewy body-like cytoplasmic inclusions in lower motor neurons (summary by Mackenzie et al., 2017).
For a discussion of genetic heterogeneity of amyotrophic lateral sclerosis, see ALS1 (105400).|OMIM|N|
C5436883|Ritscher-Schinzel syndrome-3 (RTSC3) is characterized by craniocerebellocardiac anomalies and severe postnatal growth restriction, as well as complicated skeletal malformations, including vertebral body hypoossification, sternal aplasia, and chondrodysplasia punctata. Other features include developmental delay, ocular anomalies, periventricular nodular heterotopia, and proteinuria (Kato et al., 2020).
For a discussion of genetic heterogeneity of Ritscher-Schinzel syndrome, see RTSC1 (220210).|OMIM|N|
C5436884|Frontotemporal dementia and/or amyotrophic lateral sclerosis-5 (FTDALS5) is an autosomal dominant neurodegenerative disorder characterized by onset of ALS or FTD symptoms in adulthood. The disease is progressive, and some patients may develop both diseases, although ALS seems to be more prevalent than FTD. The disorder usually results in premature death (summary by Williams et al., 2016).
For a discussion of genetic heterogeneity of FTDALS, see FTDALS1 (105550).|OMIM|N|
C5436885|Cardioacrofacial dysplasia-1 (CAFD1) is characterized by congenital cardiac defects, primarily common atrium or atrioventricular septal defect; limb anomalies, including short limbs, brachydactyly, and postaxial polydactyly; and dysmorphic facial features (Palencia-Campos et al., 2020).
Genetic Heterogeneity of Cardioacrofacial Dysplasia
CAFD2 (619143) is caused by mutation in the PRKACB gene (176892) on chromosome 1p31.|OMIM|N|
C5436886|Cardioacrofacial dysplasia-2 (CAFD2) is characterized by congenital cardiac defects, primarily common atrium or atrioventricular septal defect; limb anomalies, including short limbs, brachydactyly, and postaxial polydactyly; and dysmorphic facial features. Developmental delay of variable severity has also been observed (Palencia-Campos et al., 2020).
For a discussion of genetic heterogeneity of CAFD, see CAFD1 (619142).|OMIM|N|
C5436887|Spermatogenic failure-49 (SPGF49) is characterized by male infertility due to multiple morphologic abnormalities of the sperm flagella (MMAF), primarily coiled and short flagella, with markedly reduced or no progressive motility (He et al., 2020).
For a discussion of genetic heterogeneity of spermatogenic failure, see 258150.|OMIM|N|
C5436888|Spermatogenic failure-50 (SPGF50) is characterized by male infertility due to azoospermia resulting from meiotic arrest at prophase I (Yang et al., 2018).
For a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).|OMIM|N|
C5436889|Premature ovarian failure-17 (POF17) is characterized by early cessation of menses after initial menarche, with small ovaries and uterus (Zhang et al., 2019).
For a discussion of genetic heterogeneity of premature ovarian failure, see POF1 (311360).|OMIM|N|
C5436890|Chromosome 13q33-q34 deletion syndrome is associated with developmental delay and/or impaired intellectual development, facial dysmorphism, and an increased risk for epilepsy, cardiac defects and additional anatomic anomalies (summary by Sagi-Dain et al., 2019).|OMIM|N|
C5436892|Lessel-Kreienkamp syndrome (LESKRES) is a neurodevelopmental disorder characterized by global developmental delay with intellectual disability and speech and language delay apparent from infancy or early childhood. The severity of the disorder is highly variable: some patients have mildly delayed walking and mild cognitive deficits, whereas others are nonambulatory and nonverbal. Most have behavioral disorders. Additional features, including seizures, hypotonia, gait abnormalities, visual defects, cardiac defects, and nonspecific dysmorphic facial features, may also be present (summary by Lessel et al., 2020).|OMIM|N|
C5436894|Intellectual developmental disorder with paroxysmal dyskinesia or seizures (IDDPADS) is an autosomal recessive complex neurologic disorder characterized by global developmental delay with impaired intellectual development and language delay. In addition, most patients develop a paroxysmal hyperkinetic movement disorder in the first months or years of life manifest as sudden falls or backward propulsion, eye or head deviation, and dystonic limb posturing followed by chorea and dyskinetic movements. The episodes are pharmacoresistant to anticonvulsant medication. EEG may show interictal abnormalities, but are usually not consistent with epilepsy. However, some patients may also develop epileptic seizures or only have seizures without a movement disorder (summary by Doummar et al., 2020).|OMIM|N|
C5436906|AMED syndrome (AMEDS) is an autosomal recessive digenic multisystem disorder characterized by global developmental delay with impaired intellectual development, onset of bone marrow failure and myelodysplastic syndrome (MDS) in childhood, and poor overall growth with short stature (summary by Oka et al., 2020).
For a discussion of genetic heterogeneity of bone marrow failure syndrome (BMFS), see BMFS1 (614675).|OMIM|N|
C5436909|Nephrotic syndrome type 22 (NPHS22) is an autosomal recessive renal disease characterized by onset of progressive kidney dysfunction in infancy. Affected individuals usually present with edema associated with hypoproteinemia, proteinuria, and microscopic hematuria. Renal biopsy shows effacement of the podocyte foot processes, glomerulosclerosis, and thickening of the glomerular basement membrane. The disease is steroid-resistant and progressive, resulting in end-stage renal disease usually necessitating kidney transplant (Majmundar et al., 2021).
For a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome, see NPHS1 (256300).|OMIM|N|
C5436914|Neurodevelopmental disorder with or without early-onset generalized epilepsy (NEDEGE) is characterized by global developmental delay apparent from infancy or early childhood. Affected individuals have variably impaired intellectual development, speech delay, and behavioral abnormalities. About half of patients develop early-onset generalized epilepsy with different seizure types; myoclonic seizures and myoclonic-atonic epilepsy are commonly observed. The seizures may remit with age or remain refractory to treatment. Brain imaging is essentially normal and there are no significant accompanying neurologic or systemic abnormalities (summary by Mulhern et al., 2018).|OMIM|N|
C5436916|Carpal tunnel syndrome-2 (CTS2) is characterized by the relatively early onset of symptoms of median nerve compression in the wrist. Patients experience pain and numbness in the thumb, index, and middle fingers, correlating with the median nerve distribution in the hand. In addition to thickening of the tendons and ligaments of the wrist, thickening of other tendons has been observed (Li et al., 2020).
For a general phenotypic description and discussion of genetic heterogeneity of carpal tunnel syndrome, see CTS1 (115430).|OMIM|N|
C5436929|Oculocutaneous albinism type VIII (OCA8) is characterized by mild hair and skin hypopigmentation, associated with ocular features including nystagmus, reduced visual acuity, iris transillumination, and hypopigmentation of the retina (Pennamen et al., 2021).|OMIM|N|
C5436933|Mitochondrial complex II deficiency nuclear type 2 (MC2DN2) is an autosomal recessive multisystemic metabolic disorder with variable severity and features. Most patients present with neurologic deterioration in infancy or early childhood after normal early development. Features include loss of motor skills, spastic paresis, dystonia, and loss of speech associated with increased serum and CSF lactate. Some patients may have mental decline or visual loss. Skeletal muscle samples show isolated complex II deficiency, and proton MRS shows increased succinate levels in the CSF and brain white matter. Brain imaging usually shows progressive leukoencephalopathy. Although the pattern of brain involvement may not be characteristic of Leigh syndrome (see 256000), postmortem examination in 1 patient showed multifocal spongiform encephalomyelopathy consistent with a diagnosis of Leigh syndrome. The most severely affected patients die of multiorgan failure and lactic acidosis, whereas others who survive may stabilize and regain some skills. Treatment with riboflavin may offer clinical improvement (summary by Brockmann et al., 2002 and Bugiani et al., 2006).
For a discussion of genetic heterogeneity of MC2DN, see MC2DN1 (252011).|OMIM|N|
C5436934|Mitochondrial complex II deficiency nuclear type 3 (MC2DN3) is an autosomal recessive multisystemic metabolic disorder with a highly variable phenotype. Some patients may have an encephalomyopathic picture with episodic developmental regression, loss of motor skills, hypotonia, ataxia, dystonia, and seizures or myoclonus. Other patients present in infancy with hypertrophic cardiomyopathy, which may be fatal. Laboratory studies show increased serum lactate and mitochondrial complex II deficiency in muscle and fibroblasts (summary by Jackson et al., 2014 and Alston et al., 2015).
For a discussion of genetic heterogeneity of MC2DN, see MC2DN1 (252011).|OMIM|N|
C5436935|Mitochondrial complex I deficiency nuclear type 36 (MC1DN36) is an autosomal recessive metabolic disorder characterized by global developmental delay, hypotonia, and failure to thrive apparent from infancy or early childhood. Affected individuals usually do not acquire ambulation, show progressive spasticity, and have impaired intellectual development with absent speech. More variable features may include pale optic discs, poor eye contact, seizures, and congenital heart defects. Laboratory studies show increased serum lactate; metabolic acidosis may occur during stress or infection. Brain imaging shows T2-weighted abnormalities in the basal ganglia and brainstem, consistent with a clinical diagnosis of Leigh syndrome (see 256000). Patient tissue showed isolated mitochondrial complex I deficiency. Death may occur in childhood (Alahmad et al., 2020).
For a discussion of genetic heterogeneity of mitochondrial complex I deficiency, see 252010.|OMIM|N|
C5436936|Hermansky-Pudlak syndrome (HPS) is characterized by oculocutaneous albinism, a bleeding diathesis, and, in some individuals, pulmonary fibrosis, granulomatous colitis, or immunodeficiency. Ocular findings include reduced iris pigment with iris transillumination, reduced retinal pigment, foveal hypoplasia with significant reduction in visual acuity (usually in the range of 20/50 to 20/400), nystagmus, and increased crossing of the optic nerve fibers. Hair color ranges from white to brown; skin color ranges from white to olive and is usually a shade lighter than that of other family members. The bleeding diathesis can result in variable bruising, epistaxis, gingival bleeding, postpartum hemorrhage, colonic bleeding, and prolonged bleeding with menses or after tooth extraction, circumcision, and other surgeries. Pulmonary fibrosis, a restrictive lung disease, typically causes symptoms in the early thirties and can progress to death within a decade. Granulomatous colitis is severe in about 15% of affected individuals. Neutropenia and/or immune defects occur primarily in individuals with pathogenic variants in AP3B1 and AP3D1.|GeneReviews|N|
C5436937|Autosomal recessive deafness-117 (DFNB117) is characterized by nonsyndromic bilateral moderate-to-profound sensorineural deafness, with onset in early childhood (Vona et al., 2021).|OMIM|N|
C5436938|Oocyte/zygote/embryo maturation arrest-10 (OZEMA10) is characterized by high rates of abnormal fertilization of mature oocytes, with development of multiple pronuclei or absent pronucleus. Morphologically normal zygotes often undergo early embryonic arrest, and surviving embryos fail to establish a successful pregnancy after implantation (Wang et al., 2020).
For a discussion of genetic heterogeneity of OZEMA, see 615774.|OMIM|N|
C5436962|Congenital muscular dystrophies resulting from defective glycosylation of alpha-dystroglycan (DAG1; 128239) are characterized by early onset of muscle weakness, usually before ambulation is achieved; intellectual disability mild brain anomalies are variable (Balci et al., 2005; Godfrey et al., 2007). Congenital muscular dystrophy-dystroglycanopathies with or without impaired intellectual development (type B) represent the intermediate range of the spectrum of dystroglycanopathies. They are less severe than muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A; see MDDGA1, 236670), previously designated Walker-Warburg syndrome (WWS) or muscle-eye-brain disease (MEB), and more severe than limb-girdle muscular dystrophy-dystroglycanopathy (type C; see MDDGC1, 609308).
Genetic Heterogeneity of Congenital Muscular Dystrophy-Dystroglycanopathy with or without Impaired Intellectual Development (Type B)
Congenital muscular dystrophy with impaired intellectual development due to defective glycosylation of DAG1 is genetically heterogeneous. See also MDDGB2 (613156), caused by mutation in the POMT2 gene (607439); MDDGB3 (613151), caused by mutation in the POMGNT1 gene (606822); MDDGB4 (613152), caused by mutation in the FKTN gene (607440); MDDGB5 (616612), caused by mutation in the FKRP gene (606596); MDDGB6 (608840), caused by mutation in the LARGE gene (603590); MDDGB14 (615351), caused by mutation in the GMPPB gene (615320); and MDDGB15 (618992), caused by mutation in the DPM3 gene (605951).|OMIM|N|
C5437068|Syndrome with the association of severe achondroplasia with developmental delay and acanthosis nigricans. It has been described in four unrelated individuals. Structural central nervous system anomalies, seizures and hearing loss were also reported, together with bowing of the clavicle, femur, tibia and fibula in some cases. The syndrome is caused by a Lys650Met substitution in the kinase domain of fibroblast growth factor receptor 3 (encoded by the FGFR3 gene; 4p16.3).|SNOMEDCT_US|N|
C5437122|Higher intake of iron compared to established reference standards or recommendations based on physiological needs.|SNOMEDCT_US|N|
C5437123|Higher intake of fiber compared to recommendations based on subject condition.|SNOMEDCT_US|N|
C5437127|A squamous cell carcinoma that has spread to the skin from another anatomic site.|NCI|N|
C5437228|Lower intake of fibre compared to established reference standards or recommendations based on physiological needs.|SNOMEDCT_US|N|
C5437413|Myocardial infarction in the absence of obstructive coronary artery disease. CORONARY CIRCULATION disruption is due to various other factors such as ATHEROSCLEROTIC PLAQUE and CORONARY VASOSPASM.|MSH|N|
C5437471|A rare clinically heterogeneous type of NAGA deficiency with developmental, neurologic and psychiatric manifestations presenting at an intermediate age.|ORDO|N|
C5437497|Higher intake of niacin compared to established reference standards or recommendations based on physiological needs.|SNOMEDCT_US|N|
C5437498|Lower intake of niacin compared to established reference standards or recommendations based on physiological needs.|SNOMEDCT_US|N|
C5437499|Higher intake of riboflavin compared to established reference standards or recommendations based on physiological needs.|SNOMEDCT_US|N|
C5437500|Lower intake of riboflavin compared to established reference standards or recommendations based on physiological needs.|SNOMEDCT_US|N|
C5437501|Higher intake of thiamin compared to established reference standards or recommendations based on physiological needs.|SNOMEDCT_US|N|
C5437502|Lower intake of thiamin compared to established reference standards or recommendations based on physiological needs.|SNOMEDCT_US|N|
C5437503|Higher intake of vitamin C compared to established reference standards or recommendations based on physiological needs.|SNOMEDCT_US|N|
C5437504|Lower intake of vitamin C compared to established reference standards or recommendations based on physiological needs.|SNOMEDCT_US|N|
C5437505|Lower fat intake compared to established reference standards or recommendations based on physiological needs.|SNOMEDCT_US|N|
C5437522|A congenital developmental abnormality of the ileum where there is a septum occluding the lumen resulting in obstruction of the ileum with proximal intestinal dilation in continuity with a collapsed distal intestine; the intestine develops to a normal length.|SNOMEDCT_US|N|
C5437523|A congenital developmental abnormality of the ileum where there is a gap in the intestine resulting in obstruction of the ileum; the proximal dilated section of intestine forms a blind end and is connected to the distal smaller segment by a fibrous cord which runs along the edge of the mesentery; the mesentery is intact and the intestine develops to a normal length.|SNOMEDCT_US|N|
C5437524|A congenital developmental abnormality of the ileum where there is a gap in the intestine due to a mesenteric defect resulting in obstruction of the ileum; the proximal dilated section of intestine and the distal narrower segment are both blind ends; the intestine may be reduced in length.|SNOMEDCT_US|N|
C5437525|A congenital developmental abnormality of the jejunum where there is a septum occluding the lumen resulting in obstruction of the jejunum with proximal intestinal dilation in continuity with a collapsed distal intestine; the intestine develops to a normal length.|SNOMEDCT_US|N|
C5437527|A congenital developmental abnormality of the jejunum where there is a gap in the intestine resulting in obstruction of the jejunum; the proximal dilated section of intestine forms a blind end and is connected to the distal smaller segment by a fibrous cord which runs along the edge of the mesentery; the mesentery is intact and the intestine develops to a normal length.|SNOMEDCT_US|N|
C5437528|A congenital developmental abnormality of the jejunum where there is a gap in the intestine due to a mesenteric defect resulting in obstruction of the jejunum; the proximal dilated section of intestine and the distal narrower segment are both blind ends; the intestine may be reduced in length.|SNOMEDCT_US|N|
C5437588|Blepharophimosis epicanthus inversus ptosis due to 3q23 microdeletion is a form of blepharophimosis epicanthus inversus ptosis syndrome (BPES), which in addition to the classical eyelids features of BPES, presents with genitourinary anomalies, spastic diplegia and speech delay.|SNOMEDCT_US|N|
C5437603|Malignant hyperthermia susceptibility (MHS) is a pharmacogenetic disorder of skeletal muscle calcium regulation associated with uncontrolled skeletal muscle hypermetabolism. Manifestations of malignant hyperthermia (MH) are precipitated by certain volatile anesthetics (i.e., halothane, isoflurane, sevoflurane, desflurane, enflurane), either alone or in conjunction with a depolarizing muscle relaxant (specifically, succinylcholine). The triggering substances cause uncontrolled release of calcium from the sarcoplasmic reticulum and may promote entry of extracellular calcium into the myoplasm, causing contracture of skeletal muscles, glycogenolysis, and increased cellular metabolism, resulting in production of heat and excess lactate. Affected individuals experience acidosis, hypercapnia, tachycardia, hyperthermia, muscle rigidity, compartment syndrome, rhabdomyolysis with subsequent increase in serum creatine kinase (CK) concentration, hyperkalemia with a risk for cardiac arrhythmia or even cardiac arrest, and myoglobinuria with a risk for renal failure. In nearly all cases, the first manifestations of MH (tachycardia and tachypnea) occur in the operating room; however, MH may also occur in the early postoperative period. There is mounting evidence that some individuals with MHS will also develop MH with exercise and/or on exposure to hot environments. Without proper and prompt treatment with dantrolene sodium, mortality is extremely high.|GeneReviews|N|
C5437619|A laryngeal disease that is characterized by acquired collapse of laryngeal suprastructures.|MONDO|N|
C5437630|3p25.3 microdeletion syndrome is a rare chromosomal anomaly characterized by intellectual disability, epilepsy or EEG abnormalities, poor speech, ataxia, and stereotypic hand movements.|SNOMEDCT_US|N|
C5437635|A rare, inherited, non-syndromic ichthyosis characterized by congenital, generalized erythroderma with cutaneous blistering and erosions, resembling collodion presentation at birth, replaced by progressive hyperkeratosis later in life without palmoplantar involvement. The ultrastructural pathology consists of sparse keratin filaments and keratin clumps that show a nearly homogeneous, amorphous structure.|ORDO|N|
C5437679|Bilateral frontal polymicrogyria is one of the rarest subtypes of polymicrogyria. It is a symmetric and bilateral form (in both brain hemispheres) that only involves the frontal lobes without including the area located behind the Sylvius fissure or the area located behind the Rolando sulcus. Some researchers classify the condition into two different forms: bilateral frontal polymicrogyriaand the bilateral frontoparietal. Signs and symptoms included delayed motor and language milestones; spastic (stiffness) hemiparesis (weakness in one side of the body) or quadriparesis (weakness in all four limbs of the body); and mild to moderate intellectual disability. Seizures mayalsobe present. The frontoparietal form is caused by changes (mutations) in the GPR56 gene but the cause for the frontal form of polymicrogyira is still not known. Treatment is based on the signs and symptoms present in each person.|MONDO|N|
C5437739|Between 71% and 99% stenosis according to the Cotton-Myer scale.|SNOMEDCT_US|N|
C5437740|100% stenosis according to the Cotton-Myer scale.|SNOMEDCT_US|N|
C5437741|Congenital duplication of the fifth digit, fully developed with bone and neural tissue.|SNOMEDCT_US|N|
C5437742|Congenital duplication of the fifth digit, rudimentary, non-functioning or soft tissue.|SNOMEDCT_US|N|
C5437753|A duplicated gallbladder resulting from an accessory gallbladder, which may be ductular or trabecular.|SNOMEDCT_US|N|
C5437757|Congenital duplication of gallbladder type 1 results from a split primordium, which can be septated, bilobed or Y-shaped.|SNOMEDCT_US|N|
C5437758|Less than 50% stenosis according to the Cotton-Myer scale.|SNOMEDCT_US|N|
C5437759|Between 51% and 70% stenosis according to the Cotton-Myer scale.|SNOMEDCT_US|N|
C5437760|Congenital pulmonary airway malformation type 4 originates in the acinar structures of the lung. It consists of peripheral thin-walled cysts, typically affecting a single lobe. There is a strong association with type 1 pleuropulmonary blastoma.|SNOMEDCT_US|N|
C5437761|A type of congenital pulmonary airway malformation that is characterized by multiple evenly spaced cysts (sponge-like appearance).|HPO|N|
C5437762|A type of congenital pulmonary airway malformation that is characterized by a bulky firm mass with an adenomatoid appearance.|HPO|N|
C5437763|A type of congenital pulmonary airway malformation that is characterized by multiple large cysts or a single dominant cyst.|HPO|N|
C5437764|Congenital pulmonary airway malformation type 0 originates in the trachea or bronchi with acinar dysgenesis, cartilage, smooth muscles, and glands separated by mesenchyme. It is fatal after birth.|SNOMEDCT_US|N|
C5437765|Congenital muscular dystrophy type 1D large gene mutation (MDC1D) is an autosomal recessive congenital muscular dystrophy with intellectual disabilities and structural brain abnormalities. It is part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan, collectively known as dystroglycanopathies. Clinical features include severe intellectual disability, hypotonia, developmental delay, contractures, and muscle degeneration.|SNOMEDCT_US|N|
C5437781|Congenital absence of the vermis of cerebellum.|HPO|N|
C5437794|Higher intake of calcium compared to established reference standards or recommendations based on physiological needs.|SNOMEDCT_US|N|
C5437795|Lower intake of calcium compared to established reference standards or recommendations based on physiological needs.|SNOMEDCT_US|N|
C5437796|Higher intake of potassium compared to established reference standards or recommendations based on physiological needs.|SNOMEDCT_US|N|
C5437798|Lower intake of potassium compared to established reference standards or recommendations based on physiological needs.|SNOMEDCT_US|N|
C5437803|Higher intake of zinc compared to established reference standards or recommendations based on physiological needs.|SNOMEDCT_US|N|
C5437804|Lower intake of zinc compared to established reference standards or recommendations based on physiological needs.|SNOMEDCT_US|N|
C5437812|Congenital muscular dystrophy type 1C is caused by mutations in the gene encoding fukutin-related protein (FKRP) and is a rare autosomal recessive disorder characterised by severe muscular dystrophy presenting at birth or in the first few weeks of life.|SNOMEDCT_US|N|
C5438170|The amount and/or type of enteral nutrition provided via a tube into the stomach and/or small intestine.|SNOMEDCT_US|N|
C5438300|The enteral nutrition formula macronutrient sources.|SNOMEDCT_US|N|
C5438411|A very rare and life threatening intraoral teratoma, usually arising from the maxilla, mandible, palate or base of skull and invading the cranium, nasopharynx or oral cavity. Epignathus is more commonly seen in females, and presents with various manifestations including dyspnea, cyanosis, cough, difficulty in sucking and swallowing, and rarely vomiting (due to swallowing difficulties). When large, they can lead to airway obstruction, asphyxia and death in the neonatal period.|SNOMEDCT_US|N|
C5438412|A very rare and life threatening intraoral teratoma, usually arising from the maxilla, mandible, palate or base of skull and invading the cranium, nasopharynx or oral cavity. More commonly seen in females, and presents with various manifestations (depending on the tumor size) including obstructive polyhydramnios in the prenatal period.|SNOMEDCT_US|N|
C5438458|A butterfly vertebra (sagittal cleft vertebra or anterior rachischisis) is a sagittal defect in the vertebral body caused by failure of fusion of the two lateral chondrification centers during embryogenesis. The name is based on the appearance of the two hemivertebrae emerging as butterfly wings from the central cleft on x-ray.|HPO|N|
C5438460|A rare partial deletion of the long arm of chromosome 12 characterized by variable combinations of developmental delay, intellectual disability, behavioral abnormalities, variable dysmorphic facial features (including microcephalus, coarse face, synophrys, epicanthal folds, large bulbous nose, small ears, low-set and posteriorly rotated ears, or large tongue, among others), and other anomalies such as malformations of the hands and fingers/feet and toes, skin and nail abnormalities, and genitourinary and cardiac abnormalities, among others.|ORPHANET|N|
C5438573|A finding of T-cell prolymphocytic leukemia that is not growing and responds to treatment.|NCI|N|
C5438727|A rare Prader-Willi like syndrome due to an interstitial deletion located at 6q16.1q16.2 and characterized by obesity, hyperphagia, hypotonia, small hands and feet, eye/vision anomalies, and global developmental delay.|ORDO|N|
C5438743|Oral intake of foods that have been modified for a nutrient, for example, lactose free, gluten free, sugar free, low fat, nut free.|SNOMEDCT_US|N|
C5438812|Pfeiffer syndrome type 1 (PS1) is a mild to moderately severe type of Pfeiffer syndrome (PS), characterized by bicoronal craniosynostosis, variable finger and toe malformations, and in most cases, normal intellectual development.|MONDO|N|
C5438815|Pelizaeus-Merzbacher disease (PMD) in female carriers is the presentation of PMD (see this term) in some women carrying mutations in the <i>PLP1</i> gene (Xq22).|ORDO|N|
C5438849|Pfeiffer syndrome type 2 (PS2) is a frequent and severe type of Pfeiffer syndrome (PS), characterized by cloverleaf skull, severe associated functional disorders, and hand/foot and elbow/knee abnormalities.|MONDO|N|
C5438850|Pfeiffer syndrome type 3 (PS3) is a severe type of Pfeiffer syndrome (PS), characterized by bicoronal craniosynostosis, severe associated functional disorders, and hand, foot and elbow abnormalities.|MONDO|N|
C5438872|A rare acquired form of renal tubular dysgenesis that develops in donor fetuses due to the shunting of blood flow to the kidney of the recipient and characterized by absent or poorly developed proximal tubules, persistent oligohydramnios and consequently the Potter sequence (facial dysmorphism with large and flat low-set ears, lung hypoplasia, arthrogryposis and limb positioning defects).|ORDO|N|
C5438878|Fear of childbirth which predates pregnancy.|SNOMEDCT_US|N|
C5438879|Fear of childbirth which develops after traumatic birth in a previous pregnancy.|SNOMEDCT_US|N|
C5438934|Split hand, bilateral is a rare, non-syndromic limb reduction defect, clinically and genetically heterogeneous, characterized by bilateral underdevelopment or absence of the central rays of the autopod, with absence of all, or just some, of the central phalanges and at least part of the associated metacarpal bones, yielding a cleft appearance of the hand. It is frequently associated with syndactyly and aplasia/hypoplasia of remaining digits and metacarpal bones. No other dysmorphic features are observed and development is appropriate for age.|MONDO|N|
C5438955|A congenital intermediate sized melanocytic naevus has a diameter between 1.5 and 20 cm|SNOMEDCT_US|N|
C5438970|A rare genetic bone development disorder characterized by involvement of the clavicles and symmetrical generalized metaphyseal enchondromas particularly in the distal femur, proximal humerus, and bones of the wrists, hands, and feet. Lesions regress later in life with growth cartilage obliteration. Clinical examination is normal and the course of the disease is benign.|SNOMEDCT_US|N|
C5438972|Linear basal cell naevus is a rare hair follicle hamartoma that shows overlapping pathological features of basal cell carcinoma. Clinically it presents with a linear collection of macules and papules histologically similar to basal cell carcinoma but with benign progression.|SNOMEDCT_US|N|
C5438974|This is a rare autosomal recessive genetic and endocrine syndrome, characterised by a complete inability of the body to respond to luteinising hormone (LH), a gonadotropin which is normally responsible for signalling Leydig cells of the testicles to produce testosterone.|SNOMEDCT_US|N|
C5438975|This is a rare autosomal recessive genetic and endocrine syndrome, characterised by a partial inability of the body to respond to luteinising hormone (LH), a gonadotropin which is normally responsible for signalling Leydig cells of the testicles to produce testosterone.|SNOMEDCT_US|N|
C5438977|Laryngo-tracheo-esophageal cleft (LC) type 0 is a congenital respiratory tract anomaly characterized by a submucosal laryngo-tracheo-esophageal cleft with minor symptoms or an asymptomatic course.|ORDO|N|
C5438994|Appositional or synechial closure of the anterior chamber angle in the absence of glaucomatous optic neuropathy. This can result in aqueous outflow obstruction and raised intraocular pressure.|SNOMEDCT_US|N|
C5439079|A worry, anxiety or suspicion, based on the carers behaviour, that the carer may be at risk of abuse or neglect, or that the carer may already have been harmed by a person they have contact with.|SNOMEDCT_US|N|
C5439080|A worry, anxiety or suspicion that an adult may be at risk of abuse or neglect, or that the individual may already have been harmed by a caregiver, institution or someone else they have contact with.|SNOMEDCT_US|N|
C5439083|A safeguarding concern is a worry, anxiety or suspicion that a child or adult may be at risk of abuse or neglect, or that the individual may already have been harmed by a caregiver, institution or someone else they have contact with.|SNOMEDCT_US|N|
C5439212|A rare type of Stickler syndrome characterized by moderate to severe sensorineural hearing loss, high myopia, retinal degeneration, vitreous anomalies, and epiphyseal dysplasia. Midface hypoplasia, cleft palate, as well as additional skeletal manifestations (such as platyspondyly, scoliosis, and tibial and femoral bowing at birth) have also been observed.|ORDO|N|
C5439220|Subject not eligible due to having a financial income determined to be above social services entitlement level.|SNOMEDCT_US|N|
C5439252|Subject has a child with a child protection plan. The purpose of the child protection plan is to reduce the level of risk and to provide support to the child and their parents in making sure that they are kept safe from harm. The child protection plan must set out a series of actions that will address and reduce the risk of harm and promote child welfare.|SNOMEDCT_US|N|
C5439364|Rachischisis is a neural tube defect, which occurs when the neural folds do not join at the midline and the undifferentiated neuroectoderm remains exposed. Rachischisis partialis (merorachischisis) is the partial form where the spinal cord is partially closed and partially open.|SNOMEDCT_US|N|
C5439412|A target or goal is a parameter whose value is to be achieved, typically through some intervention.|SNOMEDCT_US|N|
C5439441|The null syndrome is part of the Pelizaeus-Merzbacher disease (PMD; see this term) spectrum and is characterized by mild PMD features associated with demyelinating peripheral neuropathy.|ORDO|N|
C5439467|A non-invasive papillary urothelial carcinoma characterized by marked architectural and cytologic abnormalities and frequent mitotic figures (at all levels of the urothelium). It usually occurs in the urinary bladder, but it can arise from other sites in the urinary tract.|NCI|N|
C5439527|A rare syndrome found in adults with positive test results for SARS-CoV-2 by polymerase chain reaction or antibody assays indicating recent infection that is marked by cardiovascular, gastrointestinal, dermatologic, and neurologic symptoms without severe respiratory illness. The most common signs and symptoms that have been reported to date include fever, low blood pressure, abdominal pain, vomiting, diarrhea, neck pain, rash, chest pain, and tiredness not attributable to other infections.|NCI|N|
C5439539|Symptoms related to COVID-19 that persist more than 12 weeks following onset.|SNOMEDCT_US|N|
C5441051|A positive screening is defined as a quantitative score of greater than or equal to 2.|SNOMEDCT_US|N|
C5441507|Dysfunction in urine elimination.|NANDA-I|N|
C5441510|Change in or modification of age specific normal growth standards and/or developmental skills.|CCC|N|
C5441521|A symptom or problem for which a patient seeks medical attention.|NCI|N|
C5441545|A benign skin adnexal tumor of eccrine differentiation.|HPO|N|
C5441546|A breast carcinoma characterized by the presence of a lobular and a ductal component. The ductal component comprises less than 50 percent of the tumor.|NCI|N|
C5441547|A breast carcinoma characterized by the presence of a ductal carcinoma in situ component and an invasive lobular carcinomatous component.|NCI|N|
C5441562|An abnormally thin corpus callous, due to atrophy, hypoplasia or agenesis. This term is intended to be used in situations where it is not known if thinning of the corpus callosum (for instance, as visualized by magnetic resonance tomography) is due to abnormal development (e.g. a leukodystrophy) or atrophy following normal development (e.g. neurodegeneration).|HPO|N|
C5441573|A benign focal growth composed of vascular tissue.|HPO|N|
C5441655|The spread of a malignant neoplasm to the breast. This may be from a primary breast malignant neoplasm on the opposite side, or from a malignant neoplasm at a distant site.|NCI|N|
C5441660|Livedo racemosa describes a reddish-blue mottling of the skin in an irregular, reticular pattern. It differs from the more common livedo reticularis by its shape. Livedo racemosa consists of broken circular segments resulting in a seemingly larger pattern, as opposed to the fine, regular, complete network of livedo reticularis. Livedo racemosa results from permanent impairment of peripheral blood flow and, unlike livedo reticularis, it persists on warming.|HPO|N|
C5441666|Complete or partial blockage of the ureter at the point where it enters the bladder that is present at birth.|NCI|N|
C5441717|A rare intestinal disorder of neonates of unknown etiology. Patients are born with a short small bowel (less than 75 cm in length) that compromises proper intestinal absorption and leads chronic diarrhea, vomiting and failure to thrive.|SNOMEDCT_US|N|
C5441721|A type of lipoid pneumonia in which the source of the lipids is external to the body.|HPO|N|
C5441745|Abnormality of the lung parenchyma extending to the pulmonary interstitium and leading to diffuse pulmonary fibrosis.|HPO|N|
C5441786|Deterioration in the ability to concentrate.|NCI|N|
C5441816|Abnormally slow physical movement.|NCI|N|
C5441823|A corneal dystrophy (disease) that involves the corneal epithelium.|MONDO|N|
C5441917|A biological process that involves the transfer and growth of cancer cells from the site of the primary tumor. Relocation of malignant cells during metastasis can be restricted to movement within a specific tissue/organ or may entail migration to a distal locus within the body. This phenotype is a characteristic of all malignant tumors.|NCI|N|
C5441922|The physical dimensions of a lymph node.|NCI|N|
C5441923|The number of regional lymph nodes that were removed and examined by the pathologist.|NCI|N|
C5441927|Any secretory diarrhea in which the cause of the disease is a mutation in the SPINT2 gene.|MONDO|N|
C5441928|Any secretory diarrhea in which the cause of the disease is a mutation in the SLC9A3 gene.|MONDO|N|
C5441966|An increase in the amount of fluid present in the peritoneal cavity (between the layers of the peritoneum that lines the abdomen).|HPO|N|
C5442005|Warburg Micro syndrome-1 (WARBM1) is a rare autosomal recessive syndrome characterized by microcephaly, microphthalmia, microcornea, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severe mental retardation, spastic diplegia, and hypogonadism (summary by Morris-Rosendahl et al., 2010).
Genetic Heterogeneity of Warburg Micro Syndrome
Warburg Micro syndrome-2 (WARBM2; 614225) is caused by mutation in the RAB3GAP2 gene (609275) on chromosome 1q41. WARBM3 (614222) is caused by mutation in the RAB18 gene (602207) on chromosome 10p12. WARBM4 (615663) is caused by mutation in the TBC1D20 gene (611663) on chromosome 20p13.
Handley et al. (2013) provided an overview of the disease variants identified in the RAB3GAP1, RAB3GAP2, and RAB18 genes, noting that a total of 144 families with WARBM and 9 families with Martsolf syndrome had been studied. Mutations were identified in RAB3GAP1 in 41% of cases, in RAB3GAP2 in 7% of cases, and in RAB18 in 5% of cases. Although RAB18 had not been linked to RAB3 pathways, Handley et al. (2013) stated that mutations in all 3 genes cause an indistinguishable phenotype, making it likely that there is some functional overlap.|OMIM|N|
C5442006|PCH1 often has prenatal characteristics of polyhydramnios with arthrogryposis multiplex congenita. Neonates with PCH1 present with hypotonia, impaired swallowing with consequent feeding difficulties and progressive microcephaly which mostly develops postnatally. Subsequently a severe psychomotor deficit becomes apparent. The clinical course is severe. About 40 patients with PCH1 have been reported. To date recessive mutations have been noted in the EXOSC3 gene and in single cases recessive mutations have been found in the tRNA splicing endonuclease homolog 54 (TSEN54), mitochondrial arginyl-transfer RNA synthetase (RARS2), and in the vaccinia-related kinase 1 (VRK1) gene. PCH1 has an autosomal recessive transmission.|SNOMEDCT_US|N|
C5442008|Complete or almost complete absence of enamel.|HPO|N|
C5442010|Platelet-type bleeding disorder-16 (BDPLT16) is an autosomal dominant form of congenital macrothrombocytopenia associated with platelet anisocytosis. It is a disorder of platelet production. Affected individuals may have no or only mildly increased bleeding tendency. In vitro studies show mild platelet functional abnormalities (summary by Kunishima et al., 2011 and Nurden et al., 2011).
Genetic Heterogeneity of Glanzmann Thrombasthenia-like with Macrothromocytopenia
See BDPLT24 (619271), caused by mutation in the ITGB3 gene (173470) on chromosome 17q21.32. Together the ITGB2B and ITBG3 genes form an integrin, known as platelet glycoprotein GPIIb/III, that is expressed on platelets.|OMIM|N|
C5442075|The number of examined lymph nodes that were positive for macrometastases.|NCI|N|
C5442076|The number of lymph nodes that were examined.|NCI|N|
C5442077|The number of examined lymph nodes that were positive for micrometastases.|NCI|N|
C5442121|Otofaciocervical syndrome-2 with T-cell deficiency (OTFCS2) is a rare disorder characterized by facial anomalies, cup-shaped low-set ears, preauricular fistulas, hearing loss, branchial defects, skeletal anomalies including vertebral defects, low-set clavicles, winged scapulae, sloping shoulders, and mild intellectual disability (summary by Pohl et al., 2013). Patients have been reported who also exhibit altered thymus development with T-cell immunodeficiency and recurrent, sometimes fatal, infections (Paganini et al., 2017; Yamazaki et al., 2020).
For a discussion of genetic heterogeneity of otofaciocervical syndrome, see OTFCS1 (166780).|OMIM|N|
C5442141|A smooth, extratesticular, spherical cyst in the head of the epididymis.|HPO|N|
C5442181|An IgE antibody response to a mammalian oligosaccharide epitope, galactose-alpha-1,3-galactose (alpha-gal).|MONDO|N|
C5442191|Clinically meaningful cytopenia in one or more hematopoietic cell lineages. Clonal hematopoiesis is present with the variant allele frequency (VAF) equal or more that 2 percent. There is no other evidence of hematologic malignancy.|NCI|N|
C5442260|A melanocytic nevus that arises from the lip and/or oral cavity. The majority are benign. Dysplastic nevi that can lead to the development of melanoma can rarely arise from the lip and/or oral cavity.|NCI|N|
C5442313|A rare genetic hyperlipidemia characterized by excessive increase in plasma triglyceride levels due to the accumulation of chylomicrons. Clinical manifestations include recurrent episodes of severe acute pancreatitis, abdominal pain, nausea, fatigue, diarrhea, constipation, hepatosplenomegaly, eruptive xanthomas and failure to thrive. Children may often be asymptomatic. The condition is not associated with severe atherosclerosis.|SNOMEDCT_US|N|
C5442556|A breast carcinoma which is positive for expression of estrogen receptor (ER), progesterone receptor (PR), and is negative for expression of human epidermal growth factor receptor 2 (HER2).|MONDO|N|
C5442630|A rare and potentially fatal perioperative complication of cemented bone surgery, characterized by hypotension, hypoxia, cardiac dysrhythmias, and in severe cases cardiac arrest.|NCI|N|
C5443983|African degenerative visceral leiomyopathy (ADL) is a distinctive visceral myopathy with onset in childhood. It presents as intestinal pseudoobstruction with a massive megacolon due to degeneration of smooth muscle without aganglionosis (Van Rensburg et al., 2012). Some patients have megaureter and megacystis (Rode et al., 1992).|OMIM|N|
C5443984|Blepharophimosis-impaired intellectual development syndrome (BIS) is a congenital disorder characterized by a distinct facial appearance with blepharophimosis and global development delay. Affected individuals have delayed motor skills, sometimes with inability to walk, and impaired intellectual development with poor or absent speech; some patients show behavioral abnormalities. There are recognizable facial features, including epicanthal folds, sparse eyebrows, broad nasal bridge, short nose with downturned tip, and open mouth with thin upper lip. Other more variable features include distal skeletal anomalies, feeding difficulties with poor growth, respiratory infections, and hypotonia with peripheral spasticity (summary by Cappuccio et al., 2020).|OMIM|N|
C5444032|A nucleotide substitution at position 2224 of the coding sequence of the EGFR gene where guanine has been mutated to adenine.|NCI|N|
C5444033|A nucleotide substitution at position 2527 of the coding sequence of the EGFR gene where guanine has been mutated to adenine.|NCI|N|
C5444038|Metastasis to bone that presents with subjective evidence of disease as perceived by the patient.|NCI|N|
C5444111|Coffin-Siris syndrome-12 (CSS12) is a neurodevelopmental disorder characterized by global developmental delay with variably impaired intellectual development, speech and language delay, and behavioral abnormalities, such as autism or hyperactivity. Affected individuals may have hypotonia and poor feeding in infancy. There are variable dysmorphic facial features, although most patients do not have the classic hypoplastic fifth digit/nail abnormalities that are often observed in other forms of CSS (Barish et al., 2020).
For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (135900).|OMIM|N|
C5444130|The spread of invasive pancreatic ductal carcinoma along pancreatic ducts and ductules. Histologically, this process can mimic high-grade pancreatic intraepithelial neoplasia.|NCI|N|
C5444131|An autosomal dominant condition caused by mutation(s) in the PMP22 gene, encoding peripheral myelin protein 22. Neuropathy is precipitated by mechanical compression on a nerve, typically with onset in the first and second decades.|NCI|N|
C5444139|Life-threatening prolonged seizure (>5 min); or repetitive clinical or electrical seizures without return to baseline in between seizures, as defined by the American Society for Transplantation and Cellular Therapy (ASTCT) and the Immune Effector Cell Associated Neurotoxicity Syndrome (ICANS) Consensus Grading for Adults.|NCI|N|
C5444182|Breast carcinoma characterized by the presence of fine fibrovascular stalks covered by neoplastic epithelial cells of low or intermediate nuclear grade, typically present within a cystic space and surrounded by a fibrous capsule. There are usually no myoepithelial cells along the papillae or at the periphery of the lesion. (WHO 2019)|NCI|N|
C5444206|An increase in the number of cells in an organ or tissue.|NCI|N|
C5444223|The Ain-Naz type of dysostosis multiplex (DMAN) is a severe progressive skeletal dysplasia with features of a metabolic disorder. Patients exhibit marked short stature, coarse facies with broad nose and prominent lips, and a distended abdomen, and experience severe physical disability. Early death has been observed in some patients (Ain et al., 2021).|OMIM|N|
C5444224|Infantile ulcerative colitis (IBD31) is characterized by the presence of ulcers throughout the colon and rectum with normal-appearing ileum. Affected infants present with recurrent bloody diarrhea with anemia and leukocytosis, with extensive lymphoplasmocytic infiltration, cryptitis, and apoptotic crypt abcesses throughout the colon and rectum (Zhang et al., 2021). Infantile bowel disease has also been referred to as very-early-onset IBD (VEOIBD).
For a general description and discussion of genetic heterogeneity of inflammatory bowel disease, including Crohn disease (CD) and ulcerative colitis, see IBD1 (266600).|OMIM|N|
C5444421|An autosomal dominant subtype of atypical hemolytic uremic syndrome caused by mutation(s) in the CFB gene, encoding complement factor B.|NCI|N|
C5444560|Difficulty in paying debts and/or loan installments when they are due.|NCI|N|
C5444607|The quality or state of the possibility of being infected by the Sars-CoV-2 virus and developing Covid-19.|NCI|N|
C5444610|An atypical lipomatous tumor/well differentiated liposarcoma that occurs in a superficial body structure.|NCI|N|
C5444633|The presence of residual tumor nodules with a diameter less than 0.25 cm within the operative field.|NCI|N|
C5444634|The presence of residual nodules greater than 2.5 cm within the operative field.|NCI|N|
C5444648|An abortion performed due to individual choice, in the absence of a harmful medical condition caused by pregnancy.|NCI|N|
C5444689|An indication that the consent to participate in the study or one or more segments of the study has been revoked.|NCI|N|
C5444713|The presence of residual tumor nodules measuring from 0.25 to 2.5 cm within the operative field.|NCI|N|
C5444799|A benign vascular lesion characterized by the presence of a complex network of communicating arterial and venous vascular structures in the skin.|NCI|N|
C5444858|An abnormal sex chromosome karyotype where the individual is missing either a second X chromosome or the Y chromosome. The normal autosomal karyotype is present. This karyotype is associated with Turner Syndrome.|NCI|N|
C5444884|A measurement of PD-L1 expression in cervical cancer, calculated as the number of PD-L1 staining cells (tumor cells, lymphocytes, macrophages) divided by the total number of viable tumor cells, multiplied by 100.|NCI|N|
C5444889|Prominent hematopoietic cell dysplasia with mild or absent cytopenia. It may progress to an overt myelodysplastic syndrome or other myeloid neoplasms such as acute myeloid leukemia, myeloproliferative neoplasm, or mast cell disorder.|NCI|N|
C5444992|The patient has met the specified clinical criteria for the diagnosis of interest.|NCI|N|
C5444994|Any clinical seizure focal or generalized that resolves rapidly or nonconvulsive seizures on EEG that resolve with intervention, as defined by the American Society for Transplantation and Cellular Therapy (ASTCT) and the Immune Effector Cell Associated Neurotoxicity Syndrome (ICANS) Consensus Grading for Adults.|NCI|N|
C5445060|A broncholith, a calcified peribronchial lymph node that erodes into an adjacent bronchus, is most often the consequence of Histoplasma or tuberculous infection. The imaging appearance is of a small calcific focus in or immediately adjacent to an airway, most frequently the right middle lobe bronchus. Broncholiths are readily identified on CT scans. Distal obstructive changes may include atelectasis, mucoid impaction, and bronchiectasis|HPO|N|
C5445156|Higher intake of chloride compared to established reference standards or recommendations based on physiological needs.|SNOMEDCT_US|N|
C5445157|Higher intake of sulphate compared to established reference standards or recommendations based on physiological needs.|SNOMEDCT_US|N|
C5445162|Lower intake of chloride compared to established reference standards or recommendations based on physiological needs.|SNOMEDCT_US|N|
C5445163|Lower intake of sulfate compared to established reference standards or recommendations based on physiological needs.|SNOMEDCT_US|N|
C5445164|Juvenile polyposis of infancy (JPI) is the most severe form of juvenile gastrointestinal polyposis (see this term) and is characterized by pancolonic hamartomatous polyposis from stomach to rectum, diagnosed in the first two years of life.|ORDO|N|
C5445178|A breast carcinoma characterized by the presence of a ductal carcinoma in situ component and an in situ or invasive lobular carcinomatous component.|NCI|N|
C5445401|A nucleotide substitution at position 929 of the coding sequence of the ERBB2 gene where cytosine has been mutated to adenine.|NCI|N|
C5445402|A nucleotide substitution at position 929 of the coding sequence of the ERBB2 gene where cytosine has been mutated to thymine.|NCI|N|
C5445403|A mutation in the FANCI gene that either inhibits the expression of or results in the translation of an inactive Fanconi anemia group I protein.|NCI|N|
C5445404|A mutation in the FANCF gene that either inhibits the expression of or results in the translation of an inactive Fanconi anemia group F protein.|NCI|N|
C5446321|The presence of red blood cells within hepatocytes of the liver parenchyma.|NCI|N|
C5446345|An indication that specific tests were not performed during the study.|NCI|N|
C5446362|Triple-negative breast carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5446363|Triple-negative breast carcinoma that has spread from its original site of growth to nearby tissues or lymph nodes.|NCI|N|
C5446379|A non-neoplastic disorder that affects the lacrimal gland and/or the lacrimal drainage system.|NCI|N|
C5446385|A benign epithelial neoplasm that arises from the lacrimal gland. It is characterized by the presence of oncocytic cells with abundant eosinophilic and granular cytoplasm.|NCI|N|
C5446388|An adenocarcinoma that arises from the lacrimal gland. It is characterized by the presence of large malignant epithelial cells with abundant granular eosinophilic cytoplasm.|NCI|N|
C5446393|A benign neoplasm with myoepithelial differentiation arising from the lacrimal gland. It lacks an infiltrative growth pattern and does not metastasize.|NCI|N|
C5446399|An aggressive, high grade malignant neoplasm that arises from the lacrimal gland. It is characterized by the presence of a malignant epithelial and a sarcomatous component.|NCI|N|
C5446408|A rare, slow-growing carcinoma that arises from the lacrimal gland. It is characterized by the presence of duct-like structures lined by two layers of cells, an inner layer composed of epithelial-type cells and an outer layer composed of clear, myoepithelial-type cells.|NCI|N|
C5446410|An extremely rare, low-grade, salivary gland-type carcinoma that arises from the lacrimal gland. It exhibits acinar differentiation.|NCI|N|
C5446411|A rare benign tumor that arises from the lacrimal gland. It is characterized by an oncocytic epithelial component and dense lymphoid stroma.|NCI|N|
C5446419|A malignant gastric neoplasm that is not amenable to surgical resection.|NCI|N|
C5446422|A neoplasm that arises from the lacrimal gland or lacrimal drainage system and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C5446430|A neoplasm that arises from the lacrimal drainage system and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C5446431|A primary or metastatic malignant neoplasm that affects the lacrimal drainage system.|NCI|N|
C5446438|A change in the nucleotide sequence of the KDM6A gene that inhibits expression or results in the translation of either low-activity or inactive forms of the lysine-specific demethylase 6A protein.|NCI|N|
C5446439|A change in the nucleotide sequence of the KMT2C gene that inhibits expression or results in the translation of either low-activity or inactive forms of the histone-lysine N- methyltransferase 2C protein.|NCI|N|
C5446440|A malignant neoplasm that has spread from its original site of growth to the lacrimal drainage system.|NCI|N|
C5446441|A change in the nucleotide sequence of the KMT2D gene that inhibits expression or results in the translation of either low-activity or inactive forms of the histone-lysine N- methyltransferase 2D protein.|NCI|N|
C5446442|A benign exophytic papillary neoplasm that arises from the lacrimal drainage system. It consists of fibrovascular cores lined by epithelial cells.|NCI|N|
C5446444|A benign neoplasm of the lacrimal drainage system characterized by an inverted/endophytic or mixed growth pattern. It is the most common epithelial neoplasm of the lacrimal drainage system. (WHO 2018)|NCI|N|
C5446445|A squamous cell carcinoma of the lacrimal drainage system characterized by a plexiform or ribbon-like growth pattern, cytological atypia, and lack of histological evidence of keratinization.|NCI|N|
C5446446|An adenocarcinoma that arises from the lacrimal sac or nasolacrimal duct.|NCI|N|
C5446447|A carcinoma that arises from the lacrimal sac, canaliculi, or nasolacrimal duct.|NCI|N|
C5446449|A carcinoma that arises from the lacrimal sac. It is characterized by the presence of squamous cells, mucus producing cells, and cells of intermediate type.|NCI|N|
C5446450|A carcinoma that arises from the lacrimal sac. It is characterized by the presence of malignant epithelial cells that form cribriform, tubular, and solid patterns.|NCI|N|
C5446454|A rare nonkeratinizing squamous cell carcinoma that arises from the lacrimal sac or nasolacrimal duct. It is characterized by the presence of large cells with vesicular nuclei and prominent nucleoli, a syncytial growth pattern, and a lymphoplasmacytic infiltrate.|NCI|N|
C5446455|An extremely rare melanoma that arises from the lacrimal drainage system.|NCI|N|
C5446458|A change in the nucleotide sequence of the SMARCA2 gene.|NCI|N|
C5446459|A change in the nucleotide sequence of the SMARCA2 gene that inhibits expression or results in the translation of either low-activity or inactive forms of the probable global transcription activator SNF2L2 protein.|NCI|N|
C5446461|A nucleotide substitution at position 2497 of the coding sequence of the EGFR gene where thymine has been mutated to guanine.|NCI|N|
C5446462|A change in the amino acid residue at position 833 in the epidermal growth factor receptor protein where leucine has been replaced by valine.|NCI|N|
C5446463|A nucleotide substitution at position 2500 of the coding sequence of the EGFR gene where guanine has been mutated to thymine.|NCI|N|
C5446464|A nucleotide substitution at position 2500 of the coding sequence of the EGFR gene where guanine has been mutated to cytosine.|NCI|N|
C5446465|A change in the amino acid residue at position 871 in the epidermal growth factor receptor protein where alanine has been replaced by glutamic acid.|NCI|N|
C5446466|A change in the amino acid residue at position 860 in the epidermal growth factor receptor protein where lysine has been replaced by isoleucine.|NCI|N|
C5446467|A change in the amino acid residue at position 859 in the epidermal growth factor receptor protein where alanine has been replaced by serine.|NCI|N|
C5446468|The reemergence of anal canal squamous cell carcinoma after a period of remission.|NCI|N|
C5446469|A change in the amino acid residue at position 843 in the epidermal growth factor receptor protein where valine has been replaced by isoleucine.|NCI|N|
C5446470|Rectal adenocarcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5446471|The reemergence of anal canal squamous cell carcinoma after a period of remission, at or adjacent to the site of the original tumor.|NCI|N|
C5446472|A nucleotide substitution at position 2125 of the coding sequence of the EGFR gene where guanine has been mutated to adenine.|NCI|N|
C5446473|A change in the amino acid residue at position 709 in the epidermal growth factor receptor protein where glutamic acid has been replaced by lysine.|NCI|N|
C5446474|A change in the amino acid residue at position 870 in the epidermal growth factor receptor protein where histidine has been replaced by arginine.|NCI|N|
C5446475|A nucleotide substitution at position 2504 of the coding sequence of the EGFR gene where adenine has been mutated to thymine.|NCI|N|
C5446476|A change in the amino acid residue at position 835 in the epidermal growth factor receptor protein where histidine has been replaced by leucine.|NCI|N|
C5446481|Anal canal squamous cell carcinoma that has spread from its original site of growth to another anatomic site.|NCI|N|
C5446482|Anal canal squamous cell carcinoma that is not amenable to surgery.|NCI|N|
C5446486|A semiquantitative finding indicating that the concentration of free testosterone in a sample is less than 70 pg/mL.|NCI|N|
C5446488|A change in the nucleotide sequence of the NTHL1 gene.|NCI|N|
C5446489|A change in the nucleotide sequence of the SMAD4 gene.|NCI|N|
C5446490|A mutation in the BRIP1 gene that either inhibits the expression of or results in the translation of an inactive Fanconi anemia group J protein.|NCI|N|
C5446491|A mutation in the FANCG gene that either inhibits the expression of or results in the translation of an inactive Fanconi anemia group G protein.|NCI|N|
C5446492|A mutation in the PALB2 gene that either inhibits the expression of or results in the translation of an inactive partner and localizer of BRCA2 protein.|NCI|N|
C5446493|A mutation in the FANCL gene that either inhibits the expression of or results in the translation of an inactive Fanconi anemia group L protein.|NCI|N|
C5446494|A mutation in the FANCM gene that either inhibits the expression of or results in the translation of an inactive Fanconi anemia group M protein.|NCI|N|
C5446495|A mutation in the FANCE gene that either inhibits the expression of or results in the translation of an inactive Fanconi anemia group E protein.|NCI|N|
C5446496|A mutation in the FANCD2 gene that either inhibits the expression of or results in the translation of an inactive Fanconi anemia group D2 protein.|NCI|N|
C5446497|A mutation in the FANCB gene that either inhibits the expression of or results in the translation of an inactive Fanconi anemia group B protein.|NCI|N|
C5446498|A mutation in the FANCC gene that either inhibits the expression of or results in the translation of an inactive Fanconi anemia group C protein.|NCI|N|
C5446499|A mutation in the FANCA gene that either inhibits the expression of or results in the translation of an inactive Fanconi anemia group A protein.|NCI|N|
C5446505|A change in the nucleotide sequence of the MAPK3 gene.|NCI|N|
C5446512|A polyclonal proliferation of lymphoid tissue in the conjunctiva that typically occurs in young adults. It usually presents as a unilateral, red or orange, painless swelling and is probably caused by chronic antigen stimulation. (WHO 2018)|NCI|N|
C5446513|A follicular lymphoma that arises from the conjunctiva.|NCI|N|
C5446514|A mucosa-associated lymphoid tissue lymphoma affecting the conjunctiva.|NCI|N|
C5446515|A non-Hodgkin lymphoma that arises from the conjunctiva.|NCI|N|
C5446516|A diffuse large B-cell lymphoma that arises from the conjunctiva.|NCI|N|
C5446517|Vaginal carcinoma that is not amenable to surgical resection.|NCI|N|
C5446518|The reemergence of acral lentiginous melanoma after a period of remission.|NCI|N|
C5446519|Ampulla of Vater carcinoma that is resistant to treatment.|NCI|N|
C5446520|Extrahepatic bile duct carcinoma that is resistant to treatment.|NCI|N|
C5446521|Distal bile duct adenocarcinoma that is resistant to treatment.|NCI|N|
C5446532|An indolent, low-grade B-cell non-Hodgkin lymphoma that arises from the choroid, iris, or ciliary body. It is characterized by the presence of a diffuse infiltrate of small, round lymphocytes. Lymphoid follicles with germinal centers may be present. In the past these tumors were termed ''reactive lymphoid hyperplasia''. Now they are considered low-grade B-cell lymphomas, most commonly extranodal marginal zone lymphomas of mucosa-associated lymphoid tissue.|NCI|N|
C5446545|An indolent, low-grade B-cell non-Hodgkin lymphoma that arises from the choroid. It is characterized by the presence of a diffuse infiltrate of small, round lymphocytes. Lymphoid follicles with germinal centers may be present. In the past these tumors were termed ''reactive lymphoid hyperplasia''. Now they are considered low-grade B-cell lymphomas, most commonly extranodal marginal zone lymphomas of mucosa-associated lymphoid tissue.|NCI|N|
C5446547|An extremely rare low-grade B-cell non-Hodgkin lymphoma that arises from the ciliary body. It is characterized by the presence of a diffuse infiltrate of small, round lymphocytes. Most cases represent extranodal marginal zone lymphomas of mucosa-associated lymphoid tissue.|NCI|N|
C5446548|An extremely rare low-grade B-cell non-Hodgkin lymphoma that arises from the iris. It is characterized by the presence of a diffuse infiltrate of small, round lymphocytes. Most cases represent extranodal marginal zone lymphomas of mucosa-associated lymphoid tissue.|NCI|N|
C5446551|A non-Hodgkin lymphoma that has spread to the choroid following the initial presentation in another nodal or extranodal site.|NCI|N|
C5446558|A polyclonal proliferation of lymphoid tissue in the lacrimal gland. It usually presents as painless palpable masses leading to globe displacement, decreased motility, diplopia, and ptosis. It has a tendency to involve bilateral lacrimal glands. There is a higher incidence in females and in the setting of autoimmune disease. (WHO 2018)|NCI|N|
C5446559|A non-Hodgkin lymphoma that arises from the lacrimal gland or the lacrimal drainage system. The majority of cases are of B-cell type. The most common subtypes are mucosa-associated lymphoid tissue lymphoma, follicular lymphoma, and diffuse large B-cell lymphoma.|NCI|N|
C5446560|A non-Hodgkin lymphoma that arises from the lacrimal sac. The majority of cases are of B-cell type. The most common subtypes are mucosa-associated lymphoid tissue lymphoma and diffuse large B-cell lymphoma.|NCI|N|
C5446561|A mucosa-associated lymphoid tissue lymphoma that arises from the lacrimal gland or the lacrimal drainage system.|NCI|N|
C5446562|A mucosa-associated lymphoid tissue lymphoma that arises from the lacrimal gland.|NCI|N|
C5446563|A mucosa-associated lymphoid tissue lymphoma that arises from the lacrimal sac.|NCI|N|
C5446564|A diffuse large B-cell lymphoma that arises from the lacrimal gland or the lacrimal drainage system.|NCI|N|
C5446565|A diffuse large B-cell lymphoma that arises from the lacrimal sac.|NCI|N|
C5446568|Nasopharyngeal carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5446570|Transitional cell carcinoma that has spread from its original site of growth to nearby tissues or lymph nodes.|NCI|N|
C5446571|A rare benign stromal tumor that arises from the bulbar conjunctiva. It is characterized by the presence of myxoid/collagenous stroma, spindle-shaped cells, pseudonuclear inclusions, and multinucleated cells.|NCI|N|
C5446572|A rare myxoma arising from the bulbar conjunctiva.|NCI|N|
C5446573|A rare solitary fibrous tumor that arises from the optic nerve sheath.|NCI|N|
C5446574|A lymphangioma that arises from the conjunctiva.|NCI|N|
C5446575|An angiosarcoma that arises from the conjunctiva.|NCI|N|
C5446576|A leiomyosarcoma that arises from the conjunctiva.|NCI|N|
C5446577|A rhabdomyosarcoma that arises from the conjunctiva.|NCI|N|
C5446578|A sarcoma that arises from the conjunctiva.|NCI|N|
C5446579|A distal bile duct carcinoma that has spread from its original site of growth to other anatomic sites.|NCI|N|
C5446580|Leiomyosarcoma that is amenable to surgical resection.|NCI|N|
C5446581|Distal bile duct carcinoma that has spread from its original site of growth to nearby tissues or lymph nodes.|NCI|N|
C5446582|Thyroid gland oncocytic carcinoma that has spread from its original site of growth to nearby tissues or lymph nodes.|NCI|N|
C5446588|Small intestinal adenocarcinoma that has spread from its original site of growth to nearby tissues or lymph nodes.|NCI|N|
C5446589|Small intestinal adenocarcinoma that is not amenable to surgical resection.|NCI|N|
C5446591|An allergic reaction triggered by exposure to allergens found in foods containing lactose or other dairy components.|NCI|N|
C5446592|An allergic reaction triggered by exposure to allergens found in processed foods.|NCI|N|
C5446610|Test results for a product or drug that do not meet the predetermined specification criteria set by the manufacturer.|NCI|N|
C5446611|A malignant digestive system neoplasm that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5446613|A malignant neoplasm that arises from the brain and has spread extensively or is no longer responding to treatment.|NCI|N|
C5446614|A malignant neoplasm that arises from the brain and has spread from its original site of growth to other sites.|NCI|N|
C5446625|A molecular genetic abnormality indicating the presence of a mutation in exon 13 of the JAK2 gene.|NCI|N|
C5446630|Not involving or requiring an individual''s personal presence.|NCI|N|
C5446635|A neuroendocrine carcinoma arising from the breast. It is classified as small cell or large cell neuroendocrine carcinoma.|NCI|N|
C5446636|A cytogenetic abnormality that involves a translocation between chromosomes 11 and 17.|NCI|N|
C5446637|A cytogenetic abnormality that involves a translocation between chromosomes 8 and 16.|NCI|N|
C5446638|A cytogenetic abnormality that involves a translocation between chromosomes 1 and 22.|NCI|N|
C5446647|Endometrial clear cell adenocarcinoma that has spread from its original site of growth to another anatomic site.|NCI|N|
C5446648|Endometrial adenosquamous carcinoma that has spread from its original site of growth to another anatomic site.|NCI|N|
C5446649|The reemergence of endometrial adenosquamous carcinoma after a period of remission.|NCI|N|
C5446650|Endometrial mixed cell adenocarcinoma that has spread from its original site of growth to another anatomic site.|NCI|N|
C5446655|A rare, low grade malignant epithelial neoplasm arising from the breast. It is characterized by the presence of uniform, small to medium size malignant epithelial cells and an infiltrating pattern.|NCI|N|
C5446657|A rare subtype of invasive breast carcinoma characterized by tall columnar cells with reversed nuclear polarity, arranged in solid and solid papillary patterns, most commonly associated with IDH2 p.Arg172 hotspot mutations. (WHO 2019)|NCI|N|
C5446660|A well-differentiated, intermediate grade neuroendocrine neoplasm arising from the breast.|NCI|N|
C5446662|A malignant glomus tumor that is not amenable to surgical resection.|NCI|N|
C5446663|A malignant glomus tumor that has spread from its original site of growth to another anatomic site.|NCI|N|
C5446664|A malignant glomus tumor that has spread from its original site of growth to nearby tissues or lymph nodes.|NCI|N|
C5446665|A malignant glomus tumor that is resistant to treatment.|NCI|N|
C5446666|Osteosarcoma that has spread from its original site of growth to nearby tissues or lymph nodes.|NCI|N|
C5446667|Desmoid-type fibromatosis that has invaded the surrounding tissues.|NCI|N|
C5446668|Adenoid cystic carcinoma that is resistant to treatment.|NCI|N|
C5446669|Adenoid cystic carcinoma that has spread from its original site of growth to nearby tissues or lymph nodes.|NCI|N|
C5446670|Desmoid fibromatosis that is resistant to treatment.|NCI|N|
C5446671|A lesion composed of tumor cells invading the surrounding tissues without evidence of wide tumor spread.|NCI|N|
C5446673|A blood concentration of prostate specific antigen between 0.05 and 0.7 ng/mL.|NCI|N|
C5446674|A molecular abnormality referring to the loss of at least one copy of the CHIC2 gene.|NCI|N|
C5446678|A change in the sequence of the TP53 gene that encodes a premature stop codon.|NCI|N|
C5446679|A change in the nucleotide sequence in the TP53 gene that encodes an amino acid substitution in the cellular tumor antigen p53 protein.|NCI|N|
C5446680|A change in the sequence of the RB1 gene that encodes a premature stop codon.|NCI|N|
C5446681|A deletion or insertion mutation in the PTEN gene that shifts the reading frame for the transcript.|NCI|N|
C5446682|A deletion or insertion mutation in the TP53 gene that shifts the reading frame for the transcript.|NCI|N|
C5446683|A change in the nucleotide sequence in the RB1 gene that encodes an amino acid substitution in the retinoblastoma-associated protein.|NCI|N|
C5446684|A change in the nucleotide sequence in the PTEN gene that encodes an amino acid substitution in the phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN protein.|NCI|N|
C5446685|A change in the sequence of the PTEN gene that encodes a premature stop codon.|NCI|N|
C5446688|A blood concentration of prostate specific antigen greater than 15 ng/mL.|NCI|N|
C5446690|A change in the nucleotide sequence of the NLRC4 gene.|NCI|N|
C5446817|A disorder affecting the vitreous fluid and retina.|NCI|N|
C5446862|A mass-forming benign or malignant neoplasm that affects a limb of the body.|NCI|N|
C5446863|Malignant mesothelioma that has spread from its original site of growth to nearby tissues or lymph nodes.|NCI|N|
C5446864|Pleural malignant mesothelioma that has spread from its original site of growth to nearby tissues or lymph nodes.|NCI|N|
C5446865|Epithelioid mesothelioma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5446866|The reemergence of epithelioid mesothelioma after a period of remission.|NCI|N|
C5446867|An abdominal neuroendocrine neoplasm that is not amenable to surgical resection.|NCI|N|
C5446877|Breast lobular carcinoma in situ characterized by the presence of dyscohesive proliferations of type A and/or type B epithelial cells. Type A cells are small cells with uniform hyperchromatic nuclei, whereas type B cells have slightly larger vesicular nuclei, with mild variability in size and shape and with small nucleoli. The cell populations may be mixed in individual proliferations. (WHO 2019)|NCI|N|
C5446878|Breast lobular carcinoma in situ characterized by the presence of neoplastic cells with cytological features identical to classic lobular carcinoma in situ, but with marked distention of terminal ductal lobular units or ducts.|NCI|N|
C5446880|A morphologic finding indicating the presence of malignant cells with uniform nuclei in a tissue sample.|NCI|N|
C5446881|A cytogenetic abnormality that refers to the duplication of all or part of the long arm of chromosome 10.|NCI|N|
C5446882|A cytogenetic abnormality that refers to the duplication of all or part of the long arm of chromosome 16.|NCI|N|
C5446883|A change in the amino acid residue at position 1275 in the ALK tyrosine kinase receptor protein where arginine has been replaced by leucine.|NCI|N|
C5446884|A molecular abnormality referring to the loss of at least one copy of the SMARCB1 gene.|NCI|N|
C5446885|A morphologic finding indicating the presence of terminal duct lobular units with significant distention in a breast tissue sample.|NCI|N|
C5446900|A molecular abnormality indicating rearrangement of the VGLL2 gene.|NCI|N|
C5446904|A cytogenetic abnormality that refers to the translocation of the short arm (p22) of chromosome 1 and the long arm (q24) of chromosome 10. It is associated with TGFBR3/OGA (MGEA5) fusions and some cases of pleomorphic hyalinizing angiectatic tumor (PHAT) of soft parts, hemosiderotic fibrolipomatous tumor (HFLT), myxoinflammatory fibroblastic sarcoma (MIFS) and hybrid HFLT/MIFS.|NCI|N|
C5446918|An indication that T-cell receptor (TCR)-dependent signaling pathways in a immunologic sample are compromised. TCR signaling defects lead to impaired development of T-lymphocytes and are usually caused by deletion or loss of function mutations affecting one or more proteins involved in TCR-dependent signaling pathways, including the subunits of the TCR complex.|NCI|N|
C5446919|Breast ductal carcinoma in situ characterized by the presence of sheets of tumor cells with evidence of central necrosis and associated karyorrhectic/nuclear debris.|NCI|N|
C5446922|Encapsulated breast papillary carcinoma characterized by the presence of neoplastic elements that permeate beyond the fibrous capsule with an irregular infiltrative appearance. (WHO 2019)|NCI|N|
C5446923|Breast solid papillary carcinoma associated with areas featuring strands or large clusters of tumor cells. (WHO 2019)|NCI|N|
C5446924|A morphologic finding indicating cellular proliferation within the lumen of ducts.|NCI|N|
C5446939|Biliary tract carcinoma that is not amenable to surgical resection.|NCI|N|
C5446940|A fibroadenoma characterized by the presence of a pericanalicular growth pattern, increased stromal cellularity, and less than 2 mitoses per 10 high-power fields.|NCI|N|
C5447005|Simple Endoscopic Score for Crohn''s Disease Version 1 (SES-CD Version 1) Ileum subscore.|NCI|N|
C5447006|Simple Endoscopic Score for Crohn''s Disease Version 1 (SES-CD Version 1) Right colon subscore.|NCI|N|
C5447008|Simple Endoscopic Score for Crohn''s Disease Version 1 (SES-CD Version 1) Sigmoid and left colon subscore.|NCI|N|
C5447010|Simple Endoscopic Score for Crohn''s Disease Version 1 (SES-CD Version 1) SES-CD total score.|NCI|N|
C5447096|Non-Small Cell Lung Cancer Symptom Assessment Questionnaire v1.0 (NSCLC-SAQ Version 1.0) Cough domain subscore.|NCI|N|
C5447101|Symptoms of Major Depressive Disorder Scale v1.0 (SMDDS Version 1.0) Negative emotions/mood subscore.|NCI|N|
C5447113|A subtype of devil facial tumor disease characterized by the absence of identifiable copies of chromosome 2 or any sex chromosomes, and the presence of only one copy of chromosome 6 and four atypical marker chromosomes with complex rearrangements. DFTD1 tumors also have a characteristic MHC profile.|NCI|N|
C5447114|A subtype of devil facial tumor that has karyotypic changes that differ from devil facial tumor disease 1 in that it does not have chromosomal losses nor the four atypical marker chromosomes displaying complex rearrangements. DFTD2 tumors have a different MHC class I genotype.|NCI|N|
C5447137|A self-limiting, rapidly growing, non-encapsulated benign neoplasm that arises from the breast. It has been described in both the subcutis and parenchyma of the breast. It occurs most frequently in the upper-outer quadrant. It is composed of fibroblastic/myofibroblastic cells.|NCI|N|
C5447139|An angiolipoma that arises from the breast. The majority are located in the subcutaneous tissue overlying the breast parenchyma, rather than in breast parenchyma.|NCI|N|
C5447185|A problem with some logistical aspect of a clinical study, either on the part of the participant or the site.|NCI|N|
C5447197|An indication that the subject has opted to continue into the survival follow-up phase of the trial.|NCI|N|
C5447198|An indication that the subject has declined to continue into the survival follow-up phase of the trial.|NCI|N|
C5447223|A smooth muscle neoplasm with benign characteristics that arises from the mesovarium.|NCI|N|
C5447224|A carcinoma that arises from the renal tubules in rats. It is characterized by the presence of malignant large, round to polyhedral finely granular cells with amphophilic to eosinophilic cytoplasm, numerous vacuoles, and prominent nucleoli.|NCI|N|
C5447225|An adenoma that arises from the renal tubules in rats. It is characterized by the presence of benign large, round to polyhedral finely granular neoplastic cells with amphophilic to eosinophilic cytoplasm, numerous vacuoles, and prominent nucleoli.|NCI|N|
C5447226|A malignant neoplasm that has been described in rats. It arises from pituicytes in the posterior lobe of the pituitary gland.|NCI|N|
C5447227|Cylindrical, hyaline-appearing, loosely-textured, whorled, cell-sparse structures found in the subperincurial space in peripheral nerves. (Arthur K. Asbury, M.D. Renaut Bodies: A Forgotten Endoneurial Structure. Journal of Neuropathology & Experimental Neurology, Volume 32, Issue 2, April 1973, Pages 334-343)|NCI|N|
C5447228|Increase in the number or size of aggregates.|NCI|N|
C5447229|The process by which the spleen becomes smaller in size or scope.|NCI|N|
C5447230|Decrease in the size of the cortex relative to the medulla.|NCI|N|
C5447231|Increase in the size of the cortex relative to the medulla.|NCI|N|
C5447232|Increase in the amount of epithelium-free areas in the thymic cortex.|NCI|N|
C5447233|Decrease in corticomedullary distinction due to changes in lymphocyte cellularity.|NCI|N|
C5447234|Presence of exogenous or endogenous hyaline material within the thymus or other organ or tissue.|NCI|N|
C5447235|A morphologic finding indicating the presence of a high number of hypersegmented neutrophils in a peripheral blood smear.|NCI|N|
C5447236|Clusters of lymphocytes (including innate lymphoid cells), macrophages, plasma cells, and mast cells located immediately below, and covered by, the mesothelium. (INHAND)|NCI|N|
C5447237|Age-related progressive regression of the thymus gland size associated with reduction of the thymic structures and replacement by adipose tissue.|NCI|N|
C5447238|A morphologic finding indicating the presence of an increased number of Hassall''s corpuscles in the thymus gland.|NCI|N|
C5447241|A schwannoma that arises from the breast.|NCI|N|
C5447242|A neurofibroma that arises from the breast.|NCI|N|
C5447247|A change in the nucleotide sequence of the LAT gene.|NCI|N|
C5447256|A hematology test result indicating that a subject has a normal amount of B-cells but both T-cells and natural killer cells are either absent or found at abnormally low amounts.|NCI|N|
C5447257|A hematology test result indicating that a subject has a normal amount of B-cells and natural killer cells but T-cells are absent or found at abnormally low amounts and a defect in T-cell receptor signaling pathways has been observed.|NCI|N|
C5447258|A hematology test result indicating that a subject''s T-cells, B-cells and natural killer cells are either absent or found at abnormally low amounts.|NCI|N|
C5447259|The reemergence of a low grade astrocytoma after a period of remission.|NCI|N|
C5447260|A hematology test result indicating that a subject has a normal amount of B-cells and natural killer cells but T-cells are either absent or found at abnormally low amounts.|NCI|N|
C5447261|A hematology test result indicating that a subject has a normal amount of natural killer cells but B-cells and T-cells are either absent or found at abnormally low amounts.|NCI|N|
C5447268|Biventricular origin of a cardiovascular vessel.|NCI|N|
C5447280|A rare invasive carcinoma that arises from the male breast. Morphologically, it is similar to the invasive carcinomas that arise from the female breast. It usually develops in the retroareolar region.|NCI|N|
C5447283|Sinonasal squamous cell carcinoma that is not amenable to surgical resection.|NCI|N|
C5447284|Nasal cavity squamous cell carcinoma that is not amenable to surgical resection.|NCI|N|
C5447285|A rare angiosarcoma that arises from the vulva.|NCI|N|
C5447286|A carcinoma that arises from the prostate and has not spread to other anatomic sites.|NCI|N|
C5447304|The return of a disease after a period of remission at the site in which it initially manifested or adjacent to it.|NCI|N|
C5447307|A sarcoma that is confined to a specific site without evidence of spread to other anatomic sites.|NCI|N|
C5447314|An invasive carcinoma that arises from the breast in females.|NCI|N|
C5447318|A group of diseases or disorders caused by genetic defects within the immune system and comprising: Congenital neutropenia; Defects of motility; Defects of respiratory burst; and other nonlymphoid defects.|NCI|N|
C5447319|A group of diseases or disorders caused by genetic defects within the immune system, comprised by: Mendelian susceptibility to mycobacterial disease (MSMD); Epidermodysplasia verruciformis (HPV); Predisposition to severe viral infection; Herpes simplex encephalitis (HSE); Predisposition to invasive fungal diseases; Predisposition to mucocutaneous candidiasis; TLR signaling pathway deficiencies with bacterial susceptibility; and other inborn errors of immunity related to nonhematopoietic tissues.|NCI|N|
C5447320|A group of autoimmune disorders characterized by defects in self-tolerance (central or peripheral) resulting in autoimmune disease with or without recurrent infections, comprised by: Familial hemophagocytic lymphohistiocytosis (FHL) syndromes; FHL syndromes with hypopigmentation; Regulatory T cell (Treg) defects (eg, IPEX); Autoimmunity with or without lymphoproliferation (eg, autoimmune polyendocrinopathy with candidiasis and ectodermal dystrophy [APECED]); Autoimmune lymphoproliferative syndrome (ALPS); Immune dysregulation with colitis; and Susceptibility to Epstein-Barr virus (EBV) and lymphoproliferative conditions.|NCI|N|
C5447321|A group of genetic immunodeficiency syndromes with unique clinical features and well-characterized underlying immune defects, comprised of: CID with congenital thrombocytopenia; CID due to DNA repair defects other than forms of SCID in category I; CID due to thymic defects with additional congenital anomalies; CID with immunoosseous dysplasias; Hyper-IgE syndromes (HIES); CID due to defects of vitamin B12 and folate metabolism; Anhidrotic ectodermal dysplasia with immunodeficiency; CID due to calcium channel defects; and various other CID with unique clinical phenotypes.|NCI|N|
C5447322|A group of immunodeficiency disorders that include combined immunodeficiencies (CIDs) generally less profound than SCID.|NCI|N|
C5447323|A group of immunodeficiency disorders that include T cell-negative, B cell-positive severe combined immunodeficiencies; and T cell-negative, B cell-negative severe combined immunodeficiencies.|NCI|N|
C5447324|A group of primary immunodeficiency diseases caused predominantly by antibody deficiencies, comprised of: Agammaglobulinemia with absent B cells; Severe reduction in at least two serum immunoglobulins, common variable immunodeficiency (CVID) phenotype; Severe reduction in serum IgG and IgA with normal or elevated IgM, hyper-IgM; and Isotype, light chain, or functional deficiencies with generally normal numbers of B cells.|NCI|N|
C5447325|A group of immune diseases characterized predominantly by immune dysregulation leading to organ-specific autoimmunity, excessive inflammation, and non-malignant lymphoproliferation. Unlike classical primary immunodeficiencies, susceptibility to infections is typically less prominent in these disorders.|NCI|N|
C5447326|A rare immunodeficiency syndrome characterised by a narrow vulnerability to poorly virulent mycobacteria such as bacillus Calmette-Guerin (BCG) vaccines and environmental mycobacteria and defined by severe recurrent infections, either disseminated or localised. The most serious variants develop in early childhood with first infections generally occurring around the age of 3. MSMD can be inherited in an autosomal dominant, autosomal recessive or X-linked manner.|SNOMEDCT_US|N|
C5447327|An autosomal recessive condition caused by mutation(s) in the PTPRC (CD45) gene, encoding receptor-type tyrosine-protein phosphatase C. It is characterized by severe combined immunodeficiency that is T-cell negative, B-cell positive, and NK cell positive.|NCI|N|
C5447328|An inherited condition caused by mutation(s) in the RAG1 gene, encoding V(D)J recombination-activating protein 1. It is characterized by severe combined immunodeficiency that is both T-cell and B-cell negative.|NCI|N|
C5447329|An autosomal recessive condition caused by mutation(s) in the RAG2 gene, encoding V(D)J recombination-activating protein 2. It is characterized by severe combined immunodeficiency that is both T-cell and B-cell negative.|NCI|N|
C5447331|Severe congenital neutropenia inherited in an autosomal recessive pattern.|NCI|N|
C5447335|A cancer susceptibility syndrome caused by inactivating germline mutations of the CDH1 gene. It is associated with the development of lobular carcinoma of the breast. Females with mutation of the CDH1 gene have a 40% risk of developing lobular breast carcinoma.|NCI|N|
C5447337|A deficiency caused by mutation(s) in the PIK3R1 gene, encoding phosphatidylinositol 3-kinase regulatory subunit alpha. It is associated with autosomal recessive agammaglobulinemia 7, immunodeficiency 36 and SHORT (short stature, hyperextensibility of joints or hernia, ocular depression, Rieger anomaly, teething delay) syndrome.|NCI|N|
C5447360|An indication that an immunodeficiency disorder is caused by the presence of immune cells that are dysfunctional.|NCI|N|
C5447361|An indication that an immunodeficiency disorder is caused by a partial or complete loss of one or more of the hematopoietic cell lineages that are involved in host defense.|NCI|N|
C5447362|A change in the nucleotide sequence of the JAK1 gene that that results in constitutive activation of both tyrosine-protein kinase JAK1 and its downstream signaling pathways. These mutations are involved in autoinflammation, immune dysregulation, and eosinophilia (AIIDE).|NCI|N|
C5447363|A change in the nucleotide sequence of the STAT1 gene.|NCI|N|
C5447364|A change in the nucleotide sequence of the STAT1 gene that either inhibits expression or results in the translation of an inactive signal transducer and activator of transcription 1-alpha/beta protein.|NCI|N|
C5447368|A malignant small intestinal neoplasm that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5447369|The reemergence of breast implant-associated anaplastic large cell lymphoma after a period of remission.|NCI|N|
C5447370|Breast implant-associated anaplastic large cell lymphoma that is resistant to treatment.|NCI|N|
C5447371|The reemergence of head and neck squamous cell carcinoma after a period of remission, at or adjacent to the site of the original tumor.|NCI|N|
C5447373|An indication that a biomarker for a neoplastic disease is present in less than 0.1 percent of a sample.|NCI|N|
C5447374|A semi-quantitative microscopic finding indicating that at least 5 percent of the leukocytes in a peripheral blood sample are neoplastic plasma cells.|NCI|N|
C5447378|A mutation in an NTRK family gene that results in constitutive activation of the encoded NTRK family receptor protein and downstream pathways.|NCI|N|
C5447379|An immune system finding indicating that an individual has a likelihood for developing Epstein Barr virus infections.|NCI|N|
C5447380|An immune system finding indicating that an individual has a higher than normal tendency to develop bacterial infections.|NCI|N|
C5447381|An immune system finding indicating that an individual has a higher than normal tendency to develop fungal infections.|NCI|N|
C5447382|An immune system finding indicating that an individual has a higher than normal tendency to develop viral infections.|NCI|N|
C5447383|A class of genetic diseases that occur when microsatellite repeats expand beyond a threshold length.|NCI|N|
C5447384|A rare, aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the rectum. It is characterized by the presence of malignant large cells.|NCI|N|
C5447385|Body temperature ranging between 102.1 degrees Fahrenheit (39 degrees Celsius) and 103.9 degrees Fahrenheit (39.9 degrees Celsius).|NCI|N|
C5447387|Sebaceous epithelioma occurring in a dog.|NCI|N|
C5447388|An autosomal recessive condition caused by mutation(s) in the YARS gene encoding tyrosine-tRNA ligase. It is characterized by a variable phenotype which may include poor growth, developmental delay, abnormal brain white matter, hearing loss, involuntary eye movements, progressive cholestatic liver disease, pancreatic insufficiency, hypoglycemia, anemia, intermittent excess of protein in urine, recurrent bloodstream infections, and chronic pulmonary disease.|NCI|N|
C5447389|A lung carcinoid tumor that is associated with carcinoid syndrome.|NCI|N|
C5447390|A lung carcinoid tumor that is not associated with carcinoid syndrome.|NCI|N|
C5447391|The reemergence of a lung neuroendocrine neoplasm after a period of remission.|NCI|N|
C5447392|A symptom that is associated with a cancer diagnosis or its treatment.|NCI|N|
C5447393|A lung neuroendocrine neoplasm that has spread from its original site of growth to nearby tissues or lymph nodes.|NCI|N|
C5447394|A loss of structural integrity within a tissue or organ.|NCI|N|
C5447396|The patient has not met the specified clinical criteria for the diagnosis of interest.|NCI|N|
C5447397|An indication that the complaint was not lessened or improved by some other entity or action.|NCI|N|
C5447398|The lack of pathologic conditions resulting from a disease, treatment, or injury.|NCI|N|
C5447399|Lung adenocarcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5447400|A primary central chondrosarcoma that has spread from its original site of growth to nearby tissues and is not amenable to surgical resection.|NCI|N|
C5447401|A malignant neoplasm caused by deleterious germline mutation in the PALB2 gene. This mutation is associated with the development of breast carcinoma and pancreatic carcinoma.|NCI|N|
C5447415|An autoinflammatory syndrome caused by either gain-of-function splice site variants in the IKBKG gene resulting in a deletion in the C-terminal domain of the NEMO (NF-kappa-B essential modulator) protein or by increased expression of an isoform lacking the domain encoded by exon 5. It is clinically distinct from the immunodeficiency syndromes caused by loss-of-function IKBKG mutations and has features more characteristic of chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE).|NCI|N|
C5447435|An abnormal sex chromosome karyotype where the individual is missing a second X chromosome and has some chromosomal material from the Y chromosome. The normal autosomal karyotype is present.|NCI|N|
C5447437|An abnormal sex chromosome karyotype where the individual has two copies of the X chromosome and one copy of the Y chromosome. The normal autosomal karyotype is present. This karyotype is associated with Klinefelter syndrome.|NCI|N|
C5447438|An abnormal sex chromosome karyotype where the individual has three copies of the X chromosome and one copy of the Y chromosome. The normal autosomal karyotype is present.|NCI|N|
C5447439|An abnormal sex chromosome karyotype where the individual has four copies of the X chromosome. The normal autosomal karyotype is present.|NCI|N|
C5447452|A genetic disorder caused by molecular defects in the genes encoding for four regulatory factors controlling transcription of MHC class II genes. The phenotype is similar to SCID, and susceptibility to infection by viral, bacterial, fungal and protozoal agents is characteristic of the disease.|NCI|N|
C5447454|A genetic condition caused by mutation(s) in the IRF8 gene encoding interferon regulatory factor 8. Autosomal dominant (Immunodeficiency 32A) and autosomal recessive (Immunodeficiency 32B) genetic alterations result in different phenotypes, both of which have impairment of function in dendritic cells.|NCI|N|
C5447475|Lung small cell carcinoma that has spread from its original site of growth to nearby tissues or lymph nodes.|NCI|N|
C5447476|Non-squamous non-small cell lung carcinoma that is resistant to treatment.|NCI|N|
C5447477|A malignant genitourinary neoplasm that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5447478|A malignant thoracic neoplasm that has spread from its original site of growth to another anatomic site.|NCI|N|
C5447479|A malignant thoracic neoplasm that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5447498|An extremely rare variant of serous carcinoma arising from the ovary or peritoneum. It is characterized by extensive formation of psammoma bodies, low-grade cytological features, and invasion of surrounding structures.|NCI|N|
C5447499|Distal bile duct adenocarcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5447500|A glioma that is not amenable to surgical resection.|NCI|N|
C5447501|A glioblastoma that is not amenable to surgical resection.|NCI|N|
C5447502|Intrahepatic cholangiocarcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5447503|Esophageal adenocarcinoma that is resistant to treatment.|NCI|N|
C5447506|Symptoms that only affect the chest region of the body.|NCI|N|
C5447507|Lung cancer that presents with subjective evidence of disease as perceived by the patient.|NCI|N|
C5447508|Colorectal cancer symptoms that only affect the colon and/or rectum and have not spread to distant organs.|NCI|N|
C5447509|Metastases to the viscera, predominantly involving the lung and liver, that present with subjective evidence of disease as perceived by the patient.|NCI|N|
C5447510|Neurological symptoms caused by cranial nerve disease or injury.|NCI|N|
C5447511|Symptoms that cause distress or concern.|NCI|N|
C5447517|A molecular genetic abnormality indicating the presence of multiple copies of the EZH2 gene.|NCI|N|
C5447524|A molecular abnormality indicating rearrangement of the FGFR4 gene.|NCI|N|
C5447529|A semiquantitative finding indicating that the concentration of testosterone in a sample is greater than or equal to 50 ng/dL.|NCI|N|
C5447532|An atypical lipomatous tumor/well differentiated liposarcoma that occurs in deep soft tissue.|NCI|N|
C5447540|An exceptionally rare, aggressive adipocytic neoplasm, typically occurring in children and adolescents. Myxoid pleomorphic liposarcoma shows mixed histological features of conventional myxoid liposarcoma and pleomorphic liposarcoma and lacks the gene fusions and amplifications of myxoid liposarcoma, atypical lipomatous tumor, and dedifferentiated liposarcoma. (WHO 2020)|NCI|N|
C5447545|Lymphoma that has spread from its original site of growth to nearby tissues or lymph nodes.|NCI|N|
C5447546|Ureter urothelial carcinoma that is resistant to treatment.|NCI|N|
C5447547|Urethral urothelial carcinoma that is resistant to treatment.|NCI|N|
C5447548|Renal pelvis urothelial carcinoma that is resistant to treatment.|NCI|N|
C5447549|Giant cell glioblastoma that is resistant to treatment.|NCI|N|
C5447550|Dermatitis associated with the therapeutic use of an immune checkpoint inhibitor.|NCI|N|
C5447586|A response indicating that an individual feels that no option listed is a good description for them.|NCI|N|
C5447589|A microscopic finding indicating the presence of more than one mitotic figure per fifty high power fields and less than three mitotic figures per ten high power fields in a sample.|NCI|N|
C5447590|A microscopic finding indicating the presence of at least three and at most nine mitotic figures per ten high power fields in a sample.|NCI|N|
C5447591|A microscopic finding indicating the presence of at least ten mitotic figures per ten high power fields in a sample.|NCI|N|
C5447592|The characteristic shape or pattern of neoplastic cells seen in a neurofibroma.|NCI|N|
C5447595|An adverse event that is unexpected, related or possibly related to an individual''s participation in the research, and suggests that the research places subjects or others at greater risk of harm than was previously known or recognized.|NCI|N|
C5447596|Male reproductive system carcinoma that is resistant to treatment.|NCI|N|
C5447597|Penile carcinoma that is resistant to treatment.|NCI|N|
C5447598|Rectal squamous cell carcinoma that is resistant to treatment.|NCI|N|
C5447600|Nasopharyngeal nonkeratinizing carcinoma that has spread from its original site of growth to another anatomic site.|NCI|N|
C5447616|A cytogenetic abnormality that refers to the loss of all or part of the long arm of chromosome 1 (1q).|NCI|N|
C5447617|A cytogenetic abnormality that involves a translocation between chromosomes 6 and 14.|NCI|N|
C5447646|Lung carcinoid tumor that has spread from its original site of growth to another anatomic site.|NCI|N|
C5447647|Lung carcinoid tumor that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5447648|Lung carcinoid tumor that is not amenable to surgical resection.|NCI|N|
C5447671|A benign fibroblastic neoplasm characterized by a fusion of exon 7 of EWSR1 gene with exon 5 of SMAD3 gene. Patients usually present with a small painless superficial tumor in the hands and feet. Morphologically, there is zonation with acellular hyalinized center and peripheral proliferation of fibroblastic spindle cells without atypia. It may recur following incomplete excision.|NCI|N|
C5447683|A cytogenic abnormality that refers to any loss of genetic material from the short arm of chromosome 11 that includes the band at 11p15.5.|NCI|N|
C5447684|A cytogenic abnormality that refers to any loss of genetic material from the short arm of chromosome 9 that includes the band at 9p21.|NCI|N|
C5447693|Absence of macroscopic residual disease; no peritoneal seeding visualized within the operative field.|NCI|N|
C5447694|A cytogenetic abnormality that refers to the translocation involving the genes AHRR on chromosome 5 and NCOA2 on chromosome 8 resulting in AHRR-NCOA2 fusion.|NCI|N|
C5447695|A benign fibroblastic neoplasm composed of uniform spindle cells with abundant fibromyxoid stroma and a prominent network of innumerable branching, thin-walled blood vessels. It typically arises in the extremities, mainly the legs, frequently involving or adjacent to large joints such as the knee. Unusual anatomical locations include the back, abdominal wall, pelvic cavity, and breast. The tumors are often subcutaneous but may be intramuscular and deep. The lesion presents most often as a slow-growing painless mass. (WHO 2020)|NCI|N|
C5447696|A low-grade neoplasm arising from the skin and subcutis. It is characterized by the presence of spindled cells with abundant, eosinophilic, granular to glassy cytoplasm, low mitotic activity, marked nuclear pleomorphism, diffuse CD34 expression, and frequent keratin immunoreactivity. The prognosis is excellent.|NCI|N|
C5447697|A rare variant of dermatofibrosarcoma protuberans characterized by plaque-like growth, resembling plaque-like CD34-positive dermal fibroma.|NCI|N|
C5447698|A flat lesion resembling a plaque.|NCI|N|
C5447723|The numeric value for the histology result.|NCI|N|
C5447725|A nodule of mature glial tissue that develops in the peritoneum. It is usually accompanied by mature or immature ovarian teratoma.|NCI|N|
C5447726|A malignant non-germ cell component that typically develops secondarily within a germ cell tumor. The malignant cellular component is usually sarcomatous or carcinomatous.|NCI|N|
C5447748|A rare subtype of myxofibrosarcoma composed predominantly of malignant epithelioid cells with abundant eosinophilic cytoplasm.|NCI|N|
C5447756|Myocarditis associated with the therapeutic use of an immune checkpoint inhibitor.|NCI|N|
C5447758|A nucleotide substitution at position 2305 of the coding sequence of the EGFR gene where guanine has been mutated to cytosine.|NCI|N|
C5447759|A patient specimen was required to adequately investigate the issue and was requested but not provided.|NCI|N|
C5447760|Problems that occured related to the actions of a healthcare professional, patient, or other device user.|NCI|N|
C5447762|Problems traced to inadequate protection of computers, servers, mobile devices, electronic systems, networks, programs, and data from malicious attacks, damage, or unauthorized access.|NCI|N|
C5447764|Cause traced to inadequate or inappropriate design of the software component of a medical device, or software as a medical device.|NCI|N|
C5447765|Problems traced to an error, flaw or fault in a computer program or system that causes it to produce an incorrect or unexpected result, or to behave in unintended ways.|NCI|N|
C5447767|A change in the nucleotide sequence of exon 14 the MET gene that results constitutive activation of hepatocyte growth factor receptor and its downstream signaling pathways.|NCI|N|
C5447768|A quantitative microscopic finding indicating that 20,000 or fewer nucleated cells in a peripheral leukocyte sample are immature mononuclear cells.|NCI|N|
C5447769|A semi-quantitative microscopic finding indicating that less than 50 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.|NCI|N|
C5447770|A change in the amino acid residue at position 469 in the serine/threonine-protein kinase B-raf protein where glycine has been replaced by another amino acid.|NCI|N|
C5447771|A change in the amino acid residue at position 485 in the serine/threonine-protein kinase B-raf protein where leucine has been replaced by another amino acid.|NCI|N|
C5447772|A change in the amino acid residue at position 597 in the serine/threonine-protein kinase B-raf protein where leucine has been replaced by another amino acid.|NCI|N|
C5447775|A finding indicating elevated concentrations of ALCAM in a sample.|NCI|N|
C5447777|A nucleotide substitution at position 2591 of the coding sequence of the EGFR gene where cytosine has been mutated to thymine.|NCI|N|
C5447778|A change in the amino acid residue at position 864 in the epidermal growth factor receptor protein where alanine has been replaced by valine.|NCI|N|
C5447780|A nucleotide substitution at position 1787 of the coding sequence of the EGFR gene where cytosine has been mutated to thymine.|NCI|N|
C5447781|A change in the amino acid residue at position 596 in the epidermal growth factor receptor protein where proline has been replaced by leucine.|NCI|N|
C5447782|A nucleotide substitution at position 664 of the coding sequence of the EGFR gene where cytosine has been mutated to thymine.|NCI|N|
C5447783|A change in the amino acid residue at position 222 in the epidermal growth factor receptor protein where arginine has been replaced by cysteine.|NCI|N|
C5447784|A nucleotide substitution at position 2491 of the coding sequence of the EGFR gene where cytosine has been mutated to thymine.|NCI|N|
C5447785|A change in the amino acid residue at position 831 in the epidermal growth factor receptor protein where arginine has been replaced by cysteine.|NCI|N|
C5447786|A nucleotide substitution at position 2492 of the coding sequence of the EGFR gene where guanine has been mutated to adenine.|NCI|N|
C5447787|A change in the amino acid residue at position 831 in the epidermal growth factor receptor protein where arginine has been replaced by histidine.|NCI|N|
C5447789|A change in the amino acid residue at position 742 in the epidermal growth factor receptor protein where valine has been replaced by isoleucine.|NCI|N|
C5447790|A nucleotide substitution at position 2305 of the coding sequence of the EGFR gene where guanine has been mutated to adenine.|NCI|N|
C5447791|A change in the amino acid residue at position 769 in the epidermal growth factor receptor protein where valine has been replaced by methionine.|NCI|N|
C5447792|A nucleotide substitution at position 2320 of the coding sequence of the EGFR gene where guanine has been mutated to adenine.|NCI|N|
C5447793|A change in the amino acid residue at position 774 in the epidermal growth factor receptor protein where valine has been replaced by methionine.|NCI|N|
C5447794|A change in the amino acid residue at position 842 in the receptor tyrosine-protein kinase erbB-2 protein where valine has been replaced by isoleucine.|NCI|N|
C5447795|A nucleotide substitution at position 2305 of the coding sequence of the ERBB2 gene where guanine has been mutated to adenine.|NCI|N|
C5447796|A change in the amino acid residue at position 769 in the receptor tyrosine-protein kinase erbB-2 protein where aspartic acid has been replaced by asparagine.|NCI|N|
C5447797|A nucleotide substitution at position 1963 of the coding sequence of the ERBB2 gene where adenine has been mutated to guanine.|NCI|N|
C5447798|A change in the amino acid residue at position 655 in the receptor tyrosine-protein kinase erbB-2 protein where isoleucine has been replaced by valine.|NCI|N|
C5447799|A nucleotide substitution at position 2301 of the coding sequence of the ERBB2 gene where cytosine has been mutated to guanine.|NCI|N|
C5447800|A change in the amino acid residue at position 767 in the receptor tyrosine-protein kinase erbB-2 protein where isoleucine has been replaced by methionine.|NCI|N|
C5447801|A change in the amino acid residue at position 755 in the receptor tyrosine-protein kinase erbB-2 protein where leucine has been replaced by another amino acid.|NCI|N|
C5447802|A nucleotide substitution at position 2356 of the coding sequence of the ERBB2 gene where cytosine has been mutated to guanine.|NCI|N|
C5447803|A change in the amino acid residue at position 786 in the receptor tyrosine-protein kinase erbB-2 protein where leucine has been replaced by valine.|NCI|N|
C5447805|A nucleotide substitution at position 2606 of the coding sequence of the ERBB2 gene where thymine has been mutated to guanine.|NCI|N|
C5447806|A change in the amino acid residue at position 869 in the receptor tyrosine-protein kinase erbB-2 protein where leucine has been replaced by arginine.|NCI|N|
C5447807|A nucleotide substitution at position 2033 of the coding sequence of the ERBB2 gene where guanine has been mutated to adenine.|NCI|N|
C5447808|A change in the amino acid residue at position 678 in the receptor tyrosine-protein kinase erbB-2 protein where arginine has been replaced by glutamine.|NCI|N|
C5447809|A change in the amino acid residue at position 310 in the receptor tyrosine-protein kinase erbB-2 protein where serine has been replaced by phenylalanine.|NCI|N|
C5447810|A change in the amino acid residue at position 310 in the receptor tyrosine-protein kinase erbB-2 protein where serine has been replaced by tyrosine.|NCI|N|
C5447811|A nucleotide substitution at position 2198 of the coding sequence of the ERBB2 gene where cytosine has been mutated to thymine.|NCI|N|
C5447812|A change in the amino acid residue at position 733 in the receptor tyrosine-protein kinase erbB-2 protein where threonine has been replaced by isoleucine.|NCI|N|
C5447813|A change in the amino acid residue at position 862 in the receptor tyrosine-protein kinase erbB-2 protein where threonine has been replaced by isoleucine.|NCI|N|
C5447814|A deletion of thymine-thymine and an insertion of adenine-guanine at positions 1976 and 1977 of the coding sequence of the ERBB2 gene.|NCI|N|
C5447815|A change in the amino acid residue at position 659 in the receptor tyrosine-protein kinase erbB-2 protein where valine has been replaced by glutamic acid.|NCI|N|
C5447816|A nucleotide substitution at position 2089 of the coding sequence of the ERBB2 gene where guanine has been mutated to cytosine.|NCI|N|
C5447817|A nucleotide substitution at position 2089 of the coding sequence of the ERBB2 gene where guanine has been mutated to thymine.|NCI|N|
C5447818|A change in the amino acid residue at position 697 in the receptor tyrosine-protein kinase erbB-2 protein where valine has been replaced by leucine.|NCI|N|
C5447819|A nucleotide substitution at position 2317 of the coding sequence of the ERBB2 gene where guanine has been mutated to adenine.|NCI|N|
C5447820|A change in the amino acid residue at position 773 in the receptor tyrosine-protein kinase erbB-2 protein where valine has been replaced by methionine.|NCI|N|
C5447821|A nucleotide substitution at position 2329 of the coding sequence of the ERBB2 gene where guanine has been mutated to cytosine.|NCI|N|
C5447822|A nucleotide substitution at position 2329 of the coding sequence of the ERBB2 gene where guanine has been mutated to thymine.|NCI|N|
C5447823|A change in the amino acid residue at position 777 in the receptor tyrosine-protein kinase erbB-2 protein where valine has been replaced by leucine.|NCI|N|
C5447824|A nucleotide substitution at position 2329 of the coding sequence of the ERBB2 gene where guanine has been mutated to adenine.|NCI|N|
C5447825|A change in the amino acid residue at position 777 in the receptor tyrosine-protein kinase erbB-2 protein where valine has been replaced by methionine.|NCI|N|
C5447829|A finding indicating elevated concentrations of MHC class II in a sample.|NCI|N|
C5447831|A blood concentration of prostate specific antigen greater than 100 ng/mL.|NCI|N|
C5447837|An in situ or invasive urothelial carcinoma that arises from the bladder wall and does not grow toward the hollow part of the bladder.|NCI|N|
C5447845|A cytogenetic abnormality that refers to the translocation involving the genes SERPINE1 on chromosome 7 and FOSB on chromosome 19 resulting in SERPINE1-FOSB gene fusion.|NCI|N|
C5447846|Epithelioid hemangioendothelioma characterized by a t(1;3)(p36;q23-q25) translocation, resulting in a WWTR1-CAMTA1 gene fusion. This translocation and associated gene fusion occur in more than 90% of epithelioid hemangioendotheliomas.|NCI|N|
C5447847|Epithelioid hemangioendothelioma characterized by a YAP1-TFE3 gene fusion. This gene fusion occurs in a subset of epithelioid hemangioendotheliomas characterized by the presence of well-formed vessels lined by epithelioid endothelial cells with abundant eosinophilic cytoplasm. Patients with YAP1-TFE3 gene fusion tumors tend to be younger than those with a WWTR1-CAMTA1 gene fusion.|NCI|N|
C5447861|The anatomic site where there is one or more surgical margins where diseased tissue is present.|NCI|N|
C5447862|The anatomic site(s) at which a disease has progressed or recurred.|NCI|N|
C5447863|The part of the brain that contains a supratentorial tumor.|NCI|N|
C5447865|Environmental, occupational or consumer-based exposure to respirable particles derived from industrial processing or breakdown of silica-containing materials such as sand, concrete, stone, mortar, bricks, glass, pottery and ceramics.|NCI|N|
C5447866|Clinical or laboratory test results that are the basis for a recurrent disease finding.|NCI|N|
C5447896|The condition of the ovarian capsule following surgical removal.|NCI|N|
C5447910|A condition, usually a comorbid disease, associated with increased severity and/or worsening of outcomes for subjects with human immunodeficiency virus infection and/or acquired immune deficiency syndrome (AIDS).|NCI|N|
C5447911|A personal behavior that is associated with an increased risk of acquiring an human immunodeficiency virus infection.|NCI|N|
C5447912|The anatomical location where metastasis was detected at the time of diagnosis.|NCI|N|
C5447920|A hepatitis negative finding at a predetermined time point after treatment.|NCI|N|
C5447930|An indication that an individual is not working due to being laid off, but that it is only temporary.|NCI|N|
C5447947|Conditions did not meet a qualitative measure necessary for testing or reporting.|NCI|N|
C5447948|An indication that the expression level for a biological factor of interest is found within the normal range of values.|NCI|N|
C5447973|A malignant salivary gland neoplasm that is resistant to treatment.|NCI|N|
C5447974|Salivary gland carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5447975|The reemergence of a malignant genitourinary system neoplasm after a period of remission.|NCI|N|
C5447976|Medulloblastoma that has spread from its original site of growth to another anatomic site.|NCI|N|
C5447980|A squamous cell carcinoma that arises from the lacrimal sac and/or canaliculi. it is exceedingly rare in the nasolacrimal duct. (WHO 2018)|NCI|N|
C5447984|Breast classic lobular carcinoma in situ characterized by the presence of neoplastic cells with uniform nuclei.|NCI|N|
C5447985|Breast classic lobular carcinoma in situ characterized by the presence of neoplastic cells with nuclei of various sizes and shapes.|NCI|N|
C5447986|A morphologic finding indicating the presence of malignant cells with a range of nuclear sizes and shapes.|NCI|N|
C5448014|A malignant neoplasm that has spread from its original site of growth to the lacrimal gland or lacrimal drainage system.|NCI|N|
C5448016|A change in the amino acid residue at position 834 in the epidermal growth factor receptor protein where valine has been replaced by leucine.|NCI|N|
C5448017|A semiquantitative finding indicating that the concentration of testosterone in a sample is less than 348 ng/dL.|NCI|N|
C5448034|A deletion or insertion mutation in the RB1 gene that shifts the reading frame for the transcript.|NCI|N|
C5448051|A nucleotide substitution at position 3824 of the coding sequence of the ALK gene where guanine has been mutated to thymine.|NCI|N|
C5448068|A change in the nucleotide sequence of the STAT5B gene that either inhibits expression or results in the translation of an inactive signal transducer and activator of transcription 5B protein.|NCI|N|
C5448069|A change in the nucleotide sequence of the MET gene that that results in loss of transcription of MET exon 14 and constitutive activation of hepatocyte growth factor receptor and its downstream signaling pathways.|NCI|N|
C5448070|A form of autoimmune hepatitis (AIH) that has features of overlapping cholestatic autoimmune liver diseases including primary biliary cholangitis (PBC), primary sclerosing cholangitis (PSC), or autoimmune cholangitis (AIC).|NCI|N|
C5448095|Problems traced to the device, but the investigation could not identify the actual root cause (e.g. Design, Manufacturing, Component).|NCI|N|
C5448096|A nucleotide substitution at position 2524 of the coding sequence of the ERBB2 gene where guanine has been mutated to adenine.|NCI|N|
C5448100|Salivary gland carcinoma that is resistant to treatment.|NCI|N|
C5448120|A carcinoma that arises from the lacrimal gland. It is characterized by the presence of a malignant cellular infiltrate exhibiting myoepithelial differentiation.|NCI|N|
C5448121|The result of an evaluation of an individual''s ability to endure the workload that is achieved during a specified period of exercise.|NCI|N|
C5452883|An improvement in one''s ability to perform a given action.|NCI|N|
C5453007|A response indicating that something has occurred during the last year.|NCI|N|
C5453210|A response indicating that something has occurred, but not in the last year.|NCI|N|
C5539144|Immune effector cell-associated neurotoxicity syndrome (ICANS) characterized by an immune-effector cell-associated encephalopathy (ICE) tool score of 7, 8, or 9, and the ability of the affected individual to awaken spontaneously.|NCI|N|
C5539145|Immune effector cell-associated neurotoxicity syndrome (ICANS) characterized by an immune-effector cell-associated encephalopathy (ICE) tool score of 3, 4, 5, or 6, and the ability of the affected individual to awaken to voice commands.|NCI|N|
C5539146|Immune effector cell-associated neurotoxicity syndrome (ICANS) characterized by an immune-effector cell-associated encephalopathy (ICE) tool score of 0, the inability of the affected individual to be arousable without vigorous or repetitive tactile stimuli, life-threatening prolonged (greater than 5 minutes) seizures, or repetitive clinical or electroencephalographically-detected seizures without ever returning to baseline, deep focal motor weakness, diffuse cerebral edema evident on neuroimaging, decerebrate or decorticate posturing, cranial nerve VI palsy, papilledema or Cushing''s triad (bradycardia, hypertension, respiratory depression).|NCI|N|
C5539301|Living in an environment that is not meant for permanent human habitation such as cars, parks, sidewalks, abandoned buildings (on the street).|SNOMEDCT_US|N|
C5539321|Immune effector cell-associated neurotoxicity syndrome (ICANS) characterized by an immune-effector cell-associated encephalopathy (ICE) tool score of 0, 1, or 2, the ability of the affected individual to awaken only to tactile stimulus, clinical focal or generalized seizures that resolve rapidly, or non-convulsive seizures detected by electroencephalography (EEG) that resolve with intervention, and local cerebral edema evident on neuroimaging.|NCI|N|
C5539399|Insufficient responses to growth hormone (GH) provocation tests. GH deficiency is defined as a serum peak GH concentration less than 10 ng/mL on provocation with a combination of at least two separate stimulation tests.|HPO|N|
C5539405|An abnormality of the choroid plexus, which is the area in the cerebral ventricles in which cerebrospinal fluid is produced by modified ependymal cells.|HPO|N|
C5539406|Abnormal thickening of the skin on the palms and soles with an honeycomb pattern.|HPO|N|
C5539408|Affective auras with subjective qualities similar to those experienced in life but are recognized by the subject as occurring outside of actual context.|HPO|N|
C5539409|The presence of autoantibodies (immunoglobulins) in the serum that react against double-stranded DNA.|HPO|N|
C5539411|On chest radiographs, ground-glass opacity appears as an area of hazy increased lung opacity, usually extensive, within which margins of pulmonary vessels may be indistinct. On CT scans, it appears as hazy increased opacity of lung, with preservation of bronchial and vascular margins. It is caused by partial filling of airspaces, interstitial thickening (due to fluid, cells, and/or fibrosis), partial collapse of alveoli, increased capillary blood volume, or a combination of these, the common factor being the partial displacement of air. Ground-glass opacity is less opaque than consolidation, in which bronchovascular margins are obscured.|HPO|N|
C5539413|Fixation off sensitivity (FOS) is characterized by posterior or generalized epileptiform discharges that consistently occur with conditions that eliminate central vision, such as closed eyes, complete darkness, modified Ganzfeld stimulation (using a large white surface without visual cues), and Frenzel lenses. The FOS electroencephalogram (EEG) pattern usually consists of spikes/polyspikes and waves localized in occipital regions (bilateral or unilateral) or generalized discharges. It is usually inhibited by fixation of gaze, observing patterns, or intermittent photic stimulation (e.g., flashing light or patterns used as stimuli during the recording of the EEG).|HPO|N|
C5539414|A type of steroid-sensitive nephrotic syndrome in which relapses occur at a frequency of one relapse (albumin urine dipstick at least 3+ or proteinuria over 40 mg/m2/d or urinary protein to creatinine ratio at least 2000 mg/g for 3 consecutive days) within 6 months of initial response, or one to three relapses in any 12-month period.|HPO|N|
C5539415|A type of steroid-sensitive nephrotic syndrome in which relapses occur at a frequency of two or more relapses (albumin urine dipstick at least 3+ or proteinuria over 40 mg/m2/d or urinary protein to creatinine ratio at least 2000 mg/g for 3 consecutive days) within 6 months of initial response or four or more relapses in any 12-month period.|HPO|N|
C5539416|Presence of abnormal additional layers of the basement membrane of the glomerulus.|HPO|N|
C5539418|Presence of thickening of the interlobular septa of the lungs as seen on a CT scan.|HPO|N|
C5539421|The presence of autoantibodies in the blood circulation that react against La/SSB autoantigens.|HPO|N|
C5539422|An increased level of acetone in the blood circulation. Acetone is one of the predominant ketone bodies.|HPO|N|
C5539423|Neonatal electro-clinical sequential motor seizure is a type of neonatal electro-clinical seizure where the predominant feature cannot be detected because of seizures presenting with a variety of clinical and electrographic signs, often changing lateralization within or between seizures.|HPO|N|
C5539427|Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material in the glomerulus. Distribution can include vascular pole, perihilar, tip or neither tip, perihilar or vascular.|HPO|N|
C5539428|Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material in the glomerulus at the vascular pole/perihilum.|HPO|N|
C5539429|Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material in the glomerulus at the tip/tubular pole.|HPO|N|
C5539430|Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material in the glomerulus at neither tip nor perihilar/vascular poles. Both the vascular and the tubular pole are present in the glomerular cross section.|HPO|N|
C5539431|An increased concentration of 2-ethylhydracylic acid in the urine.|HPO|N|
C5539432|Any structural abnormality of the parietal epithelial cells that line the inside of Bowman's capsule and form an inconspicuous sheet of flat epithelial cells in continuity with the proximal tubular epithelial cells at the urinary pole and with the podocytes at the vascular pole.|HPO|N|
C5539433|Increased number of parietal epithelial cells lining Bowman's capsule. Hyperplasia leads to the cells being present in 2 or more layers, often with crowding and multilayering.|HPO|N|
C5539434|An abnormality of the glomerular parietal epithelial cells characterized by (1) Increased parietal epithelial cell size, with or without cytoplasmic protein droplets; or (2) enlarged nuclei with prominent nucleoli. Both features can be present|HPO|N|
C5539435|An insudative accumulation of amorphous, eosinophilic, periodic acid-Schiff (PAS)-positive, silver-negative material protruding from Bowman's capsule into the urinary space. Although not always evident by light microscopy, this material is located between Bowman's capsule and the parietal epithelial cells, in some cases associated with newly formed matrix material.|HPO|N|
C5539436|An area of basement membrane continuity between the glomerular tuft and Bowman's capsule, without intervening crescent and not adjacent to an area of segmental sclerosis.|HPO|N|
C5539437|Inability to elicit triceps tendon reflex.|HPO|N|
C5539438|Inability to elicit brachioradialis tendon reflex.|HPO|N|
C5539439|Inability to elicit biceps tendon reflex.|HPO|N|
C5539440|Abnormal number of its constituent cells of the mesangium of the glomerulus of the kidney.|HPO|N|
C5539441|Any structural anomaly of the glomerular matrix. Mesangial cells generate and embed in their own extracellular matrix. The mesangial matrix is different in composition from the glomerular basement membrane. Its constituents are type IV collagen (but only the alpha1 and alpha2 chains); type V collagen; laminin A, B1, and B2; and considerable amounts of fibronectin, heparan sulfate and chondroitin sulfate proteoglycans, entactin, and nidogen. Furthermore, small amounts of the proteoglycans decorin and biglycan are found in the mesangial matrix.|HPO|N|
C5539442|Mesangial immune deposit located adjacent to the paramesangial glomerular basement membrane.|HPO|N|
C5539443|Extracellular mesangial accumulation of moderately electron-dense, generally homogenous, amorphous-appearing extracellular material.|HPO|N|
C5539444|A failure to sustain attention that requires self-motivation to optimize performance.|HPO|N|
C5539445|Detachment of visceral epithelial cells (podocytes) from underlying glomerular basement membrane with intervening new loose basement membrane material (pale on Hematoxylin and eosin, periodic acid-Shiff, trichrome, or silver stain) forming a so-called 'halo'.|HPO|N|
C5539446|Cytoplasmic projections into the urinary space from the luminal side of the podocyte.|HPO|N|
C5539447|Layer of hypertrophied visceral epithelial cells overlying a sclerosed segment of the tuft of the glomerulus.|HPO|N|
C5539448|An increase in the ratio of residual volume (RV) to total lung capacity (TLC) on pulmonary function testing. RV is the amount of air remaining aftermaximal expiration and TLC is the total amount of air in theungs at full inspiration. These volumes cannot be determined by spirometry, but can be measured by inert gas dilution, nitrogen washout, and (3) body plethysmography. An elevated RV/TLC can be interpreted as a sign of air trapping and hyperinflation.|HPO|N|
C5539451|An elevation of the total count of alveoli as determined by microscopic point-counting of randomly taken lung sections, not secondary to abnormalities in number, size and structure of the airways. In polyaveolar lobe, the number of alveoli is generally increased three to fivefold.|HPO|N|
C5539452|A horseshoe lung is an uncommon congenital abnormality caused by the partial fusion of the bases of both lungs behind the pericardial sac.|HPO|N|
C5539453|Accumulation of immature interstitial cells containing abundant cytoplasmic glycogen defined by periodic acid-Schiff (PAS) positive cells.|HPO|N|
C5539454|Any structural abnormality of alveolar type 2 (ATII) cells.|HPO|N|
C5539455|Increase in size of type II pneumocytes, characterized by qualitative morphologic alterations, including cuboidal shapes, increased nucleocytoplasmic ratio, enlarged nuclei, prominent nucleoli, and various alterations in their nuclear chromatin.|HPO|N|
C5539456|Fibrosing nodules, consisting of either unilateral or bilateral central whorled deposits of lamellar collagen hyalin.|HPO|N|
C5539457|Hyperintense lesion in the substantia nigra on magnetic resonance T2 imaging.|HPO|N|
C5539458|Increase in the amount of air remaining in a person's lungs after full exhalation.|HPO|N|
C5539459|A reduction in the concentration of interferon gamma measured in the blood circulation.|HPO|N|
C5539460|A failure to achieve the ability to walk with support (cruise) at an appropriate developmental stage.|HPO|N|
C5539461|A seizure with clinical manifestation but without motor signs (other than possible behavior arrest) as its initial clinical manifestation. The electrographic onset may be generalized, focal, or unknown.|HPO|N|
C5539462|A fracture through the distal humeral physis that separates the entire distal humeral epiphysis from the metaphysis.|HPO|N|
C5539463|Increased size of platelet dense granules.|HPO|N|
C5539464|Lamellated intracytoplasmic lipid inclusions within podocytes.|HPO|N|
C5539465|Visceral epithelial cell hyperplasia with resulting cellular crowding of the the urinary space. In contrast with true crescents, these proliferations lack inflammatory cells and fibrin. The cells are typically plump (not spindle-shaped) and often vacuolated, and Bowman's capsule is usually intact.|HPO|N|
C5539466|Abnormal structural characteristics of the interior space of the capillary of the renal glomerulus.|HPO|N|
C5539467|Wrinkling and folding of the capillaries without epithelial cell (podocyte) hyperplasia (formerly called ischemic type of collapse) involving o 80% of the glomerular tuft. The wrinkling is generally made by small regular folds of the glomerular basement membrane.|HPO|N|
C5539468|Collapse is generally accompanied by other descriptors such as hypertrophy and hyperplasia of overlying glomerular epithelial cells, halo, protein droplets in podocytes and glomerular parietal epithelial cells (PECs).|HPO|N|
C5539469|Global distention of glomerular capillaries with intraluminal intact red blood cells.|HPO|N|
C5539470|Glomerular capillary dilatation due to loosening/detachment of the glomerular basement membrane (GBM) from its anchoring points, usually in the context of mesangiolysis or nodular glomerulosclerosis.|HPO|N|
C5539471|An abnormal structure of the glomerular endothelial cells, which are highly specialized cells with fenestrae and a charged luminal glycocalyx layer that contribute to the filtration barrier.|HPO|N|
C5539472|Loss of round to oval discontinuities normally present in the glomerular capillary endothelial cell cytoplasm.|HPO|N|
C5539473|Enlargement of glomerular endothelial cells by cytoplasmic swelling with resulting partial or complete occlusion of the lumen.|HPO|N|
C5539474|Inter-anastomosing tubular structures located within cisternae of endoplasmic reticulum, most often within endothelial cells and associated with exposure to interferon.|HPO|N|
C5539475|Fibrin associated with glomerular basement membrane disruption and/or lysis of the mesangial matrix; this lesion does not require the presence of karyorrhexis.|HPO|N|
C5539476|Reduced amount of programmed cell death in peripheral blood lymphocytes following exposure to CD95 (APO-1/Fas), which is a member of the death receptor family, a subfamily of the TNF-R superfamily. Crosslinking of CD95 with its natural ligand CD95L (CD178) or with agonistic antibodies such as anti-APO-1 induces apoptosis in sensitive cells.|HPO|N|
C5539477|The presence of nucleated red blood cells in the peripheral blood circulation.|HPO|N|
C5539478|Any abnormal sttructure of the glomerular basement membrane.|HPO|N|
C5539479|Prominent glomerular basement membrane (GBM) reflecting a segmental and increase in thickness (subjective estimate) with no evidence of electron dense deposits by EM. Thickening is measured from endothelial to visceral epithelial plasma membrane and mainly attributable to an increase in thickness of the lamina densa, generally to an overall thickness more than 2 standard deviations greater than that of the normal mean GBM thickness for health age- and sex matched individuals.|HPO|N|
C5539480|Prominent glomerular basement membrane (GBM) reflecting an diffuse and relativly uniform increase in thickness (subjective estimate) with no evidence of electron dense deposits by EM. Thickening is measured from endothelial to visceral epithelial plasma membrane and mainly attributable to an increase in thickness of the lamina densa, generally to an overall thickness more than 2 standard deviations greater than that of the normal mean GBM thickness for health age- and sex matched individuals.|HPO|N|
C5539481|Prominent glomerular basement membrane (GBM) reflecting an increase in thickness (subjective estimate) with no evidence of electron dense deposits by electron microscopy.|HPO|N|
C5539483|Lucent zones within the glomerular basement membranes. May reflect remote/resolved deposits.|HPO|N|
C5539485|Expansion of the space between the glomerular endothelium and lamina densa by electron-lucent material.|HPO|N|
C5539486|Apoptotic, pyknotic, and fragmented nuclei within the glomerulus.|HPO|N|
C5539487|An aggregate of coagulated blood containing fibrin, with or without entrapped cellular elements, within a glomerular capillary lumen.|HPO|N|
C5539488|Intracapillary amorphous, eosinophilic material consisting of immune deposits.|HPO|N|
C5539489|Intracapillary silver-positive material that is finely vacuolated and laminated, and stains with oil red O on frozen sections.|HPO|N|
C5539490|Extracellular meangial accumulation of finely granular material corresponding to immunoglobulin and/or complement by immunofluorescence/immunohistochemistry; most typically electron-dense although this may decrease with resorption of the deposit.|HPO|N|
C5539491|Visceral epithelial cells with 2 nuclei. Can be observed on light or ultrastructral microscopy.|HPO|N|
C5539492|Visceral epithelial cells with more than two nuclei. Can be observed on light or ultrastructral microscopy.|HPO|N|
C5539493|A deviation from the normal concentration in blood of factor H-related protein 1 (FHR-1)|HPO|N|
C5539494|Decreased level of circulating complement factor H related protein 1 concentration in the blood circulation.|HPO|N|
C5539495|Elevated level of circulating complement factor H related protein 1 concentration in the blood circulation.|HPO|N|
C5539496|An abnormally increased level of 1-methylhistidine in the blood circulation. 1-methylhistidine is a derivative of L-histidine.|HPO|N|
C5539497|The concentration of 4-Hydroxyphenylacetic acid in the blood circulation is above the upper limit of normal.|HPO|N|
C5539498|Abnormally increased amount of a monocarboxylic acid in the urine. Monocarboxylic acids are molecules with one COOH functional group.|HPO|N|
C5539500|Any deviation from the normal concentration of fetuin A in the blood circulation.|HPO|N|
C5539501|A reduction below normal of fetuin A in the blood circulation.|HPO|N|
C5539502|An elevation above normal of fetuin A in the blood circulation.|HPO|N|
C5539503|Excessive growth of the kneecap (patella).|HPO|N|
C5539504|A type of intussusception of the small intestine in which one part of the ileum invaginates (telescopes) into another part of the ileum.|HPO|N|
C5539506|Structural anomaly located in Bowman's space, which represents the beginning of the urinary space and is contiguous with the proximal convoluted tubule of the nephron.|HPO|N|
C5539507|Acellular collagenous matrix within Bowman's space, not associated with extracapillary hypercellularity or necrosis, associated with sclerosis or deflation of the tuft.|HPO|N|
C5539508|Increased number of visceral epithelial cells (2 or more layers), often with crowding and multilayering, but without continuity with the parietal epithelium.|HPO|N|
C5539509|Round to ovoid, Periodic acid-Schiff (PAS)-positive, fuchsinophilic cytoplasmic inclusions within visceral epithelial cells.|HPO|N|
C5539510|A type of glomerular crescent characterized by extracapillary hypercellularity of greater than two cell layers and involving more than 10% of the capsular circumference, composed of greater than 75% cells with or without fibrin, and less than 25% fibrous matrix.|HPO|N|
C5539511|A type of glomerular crescent characterized by extracapillary hypercellularity of more than 2 cell layers and involving over 10% of the capsular circumference, composed of 25% to 75% cells with or without fibrin, and the remainder fibrous matrix.|HPO|N|
C5539512|A type of glomerular crescent characterized by extracapillary fibrosis composed of greater than 75% matrix and of less than 25% cells with or without fibrin, usually associated with disruption of Bowman's capsule and involving over 10% of the capsular circumference.|HPO|N|
C5539513|Loss of mesangial cells segmentally or globally.|HPO|N|
C5539514|Globally sclerotic glomeruli are that are small and without hyalinosis and may appear with collapse of the tuft with collagenization of the urinary space. Bowman's capsule is completely or partially absent and there is no periglomerular fibrosis and glomerular size is decreased by more than 50% compared to all other glomeruli in the same biopsy. Obsolescent glomeruli may appear to be receding into the interstitium.|HPO|N|
C5539515|Double contouring of the original glomerular basement membrane (GBM)/additional layer(s) of overlying basement membrane matrix, with or without endocapillary hypercellularity and no evidence of interposed migrated cells (mesangial, endothelial, monocytes) between the layers of original GBM and de novo GBM.|HPO|N|
C5539516|Double contouring of the original glomerular basement membrane (GBM)/additional layer(s) of overlying basement membrane matrix with interposed migrated cells (mesangial, endothelial, monocytes) between the layers of original GBM and de novo GBM.|HPO|N|
C5539517|The concentration of homovanillic acid in the blood circulation is above the upper limit of normal.|HPO|N|
C5539518|Increased concentration of sebacic acid in the blood circulation.|HPO|N|
C5539519|An increased concentration of 4-hydroxyphenlyllactic acid in the blood circulation.|HPO|N|
C5539520|Abnormal neck-righting response, which is said to be a physiological response when a child is placed flat on his or her back and the head is turned 90 degrees to the right or the left. With a normal neck-righting response, there follows a reflected torsion of the vertebral column in the same direction as the induced rotation of the neck. That is, the whole body follows the direction in which the head was turned. The response is present from birth to the age of five years.|HPO|N|
C5539521|The concentration of serum amyloid A in the blood circulation is above the upper limit of normal.|HPO|N|
C5539522|An anomaly in the development of the embryo, that is, of the early developmental stage of development that follows the fertilization of an egg by sperm.|HPO|N|
C5539523|An anomaly in the development of the embryo in a stage prior to implantation.|HPO|N|
C5539524|An anomaly in the process by a a haploid cell is formed from a diploid cells through meiosis. In males, diploid spermatogonia produce two haploid cells (secondary spermatocytes) in meiosis I and four haploid spermatids in meiosis II. In females, primordial germ cells under meiosis II before birth to form primary oocytes. Once puberty cell begins, these cells form secondary oocytes through meiosis II.|HPO|N|
C5539525|Anomalous oocyte meiosis|HPO|N|
C5539526|An increased concentration of inosine in the blood circulation.|HPO|N|
C5539527|Increased concentration of guanosine in the blood circulation.|HPO|N|
C5539528|An increased concentration of beta-sitosterol in the blood circulation.|HPO|N|
C5539529|The presence of autoantibodies (immunoglobulins) in the serum that react against aquaporin-4.|HPO|N|
C5539530|A pleural cobblestone appearance characterized by irregular bumps surrounded by depressed lines in open lung biopsy. Caused by underlying scarring causing retraction of the interlobular septa where they insert on the pleura.|HPO|N|
C5539531|Aura with affective, mnemonic or composite perceptual phenomena including illusory or composite hallucinatory events.|HPO|N|
C5539532|A purely subjective manifestation of an epileptic seizure pertaining to altered cognition.|HPO|N|
C5539533|An increase in the amount of air a person can forcefully expel in one second, compared to some standard or previous measure of same subject.|HPO|N|
C5539534|Any structural anomaly of a blood vessel (artery, arteriole, capillary, venule, or vein).|HPO|N|
C5539535|Any deviation from the normal amount of a metabolite in urine.|HPO|N|
C5539536|An increased level of deoxypyridinoline in the urine. Deoxypyridinoline is a crosslink product of collagen molecules found in bone and excreted in urine during bone degradation, has been described as a marker of bone turnover.|HPO|N|
C5539537|An abnormally increased level of o-phosphoserine in the blood circulation. o-phosphoserine is a derivative of serine.|HPO|N|
C5539538|Reduced range of motion turning the head side to side.|HPO|N|
C5539539|A deviation from the normal range of concentration of particles in urine.|HPO|N|
C5539540|An abnormally high urinary specific gravity, i.e., increased concentration of solutes in the urine.|HPO|N|
C5539541|A behavioral abnormality whereby a person is unable to move freely from one situation, activity or aspect of aa problem to another as circumstances demand. Key aspects of shifting include the ability to make transitions, problem solve flexibly, switch or alternate attention, and change focus from one mind-set or topic to another. Mild deficits in the ability to shift compromise the efficiency of problem solving, whereas more severe difficulties are reflected in perseverative behaviors. Sometimes this is described as being rigid or inflexible.|HPO|N|
C5539542|Any deviation from the normal range of KCO. The KCO is a measurement of the rate constant for alveolar uptake of CO during breath-holding in the single breath measurement of DLCO at full inflation. The DLCO is derived as the product of the KCO and the single breath alveolar volume (VA) divided by PB-PH2O.|HPO|N|
C5539543|Increased diffusion capacity of the lung for carbon monoxide (CO) rate constant (efficiency index).|HPO|N|
C5539544|Decreased diffusion capacity of the lung for carbon monoxide (CO) rate constant (efficiency index).|HPO|N|
C5539545|Increased width of the alveolar septum, which is the structure that separates neighboring alveoli. This finding can be appreciated on histology.|HPO|N|
C5539546|Presence of increased numbers of bombesin-immuno-positive neuroendocrine cells (NECs) within distal airways. There are no formal criteria for an increase (which is also dependend on the sensitivity of the staining method), findings of neuroendocrine cells in at least 70% of bronchioles by lung biopsy and at least 10% NECs in an individual airway are consistent with the diagnosis of Neuroendocrine cell hyperplasia of infancy in the appropriate clinical setting. Increases are also seen in other clicnial settings. Neuroendocrine neoplasms of the lung encompass NE tumors (NETs), which split into typical and atypical carcinoids, and NE carcinomas (NECs).|HPO|N|
C5539547|Presence of increased numbers of bombesin-immuno-positive neuroendocrine cell cluster (neuroepithelial bodies) in the alveolar ducts.|HPO|N|
C5539548|Abnormally increased concentration of O-stearoylcarnitine in the blood circulation.|HPO|N|
C5539549|Abnormally increased concentration of palmitoylcarnitine in the blood circulation.|HPO|N|
C5539550|Increased level in the urine of a metabolite that results from collagen degradation, e.g., a fragment of a collagen produced by a collagenase or serine protease.|HPO|N|
C5539551|An increased amount of pyridinoline in the urine.|HPO|N|
C5539552|Abnormal concentration in the blood circulation of a metabolite that results from collagen degradation, e.g., a fragment of a collagen produced by a collagenase or serine protease.|HPO|N|
C5539553|An increased concentration of hydroxylysyl-pyridinoline (pyridinoline) in the blood circulation.|HPO|N|
C5539554|Any structural abnormality of a bronchial artery.|HPO|N|
C5539555|Abnormal arterial anastomosis (connection) between bronchial and pulmonary arteries.|HPO|N|
C5539556|Increased caliber of a bronchial artery, which can be defined as a bronchial artery diameter that exceeds 2 mm.|HPO|N|
C5539557|Increase in the volume of bronchial artery wall due to the enlargement of its component cells.|HPO|N|
C5539558|Inflammatory cell infiltration surrounding precapillary pulmonary arteries (arterioles; 20-70 micrometer).|HPO|N|
C5539559|The presence of autoantibodies (immunoglobulins) in the serum that react against carbonic anhydrase II.|HPO|N|
C5539560|The presence of autoantibodies (immunoglobulins) in the serum that react against lactoferrin.|HPO|N|
C5539561|Presence of ropey, eosinophilic material (brght red on Trichrome staining) consistent with extracapillary fibrin outside of capillary lumina.|HPO|N|
C5539562|The presence of eosinophilic Periodic Acid Schiff (PAS)-positive cell free, protein-derived material occupying Bowman's space.|HPO|N|
C5539563|Ischemia is defined as a restriction of arterial blood supply to a tissue associated with insufficient oxygenation to support the metabolis requirements of the tissue. Depending on the involved tissues, clinical manifestations may include pain, pallor, lack of pulse, coldness, paresthesia, and paralysis. Additional associated manifestations include hemodynamic parameters (reduced blood pressure distal to the site of restricted arterial supply) and angiographic evidence of arterial occclusion.|HPO|N|
C5539564|Restriction of arterial blood supply to a digit (finger or toe) associated with insufficient oxygenation to support the metabolic requirements of the digit. Clinical manifestations may include pain, pallor, lack of pulse, coldness, paresthesia, and paralysis.|HPO|N|
C5539565|Restriction of arterial blood supply to a testis associated with insufficient oxygenation to support the metabolic requirements of the tissue. Clinical manifestations may include pain and swelling of the affected testis.|HPO|N|
C5539566|Any deviation from the normal concentration of an organic amino compound, defined as a compound formally derived from ammonia by replacing one, two or three hydrogen atoms by organyl groups.|HPO|N|
C5539567|An increased concentration of o-phosphoethanolamine in the blood circulation.|HPO|N|
C5539568|Elevated amount of acetoacetic acid in the urine.|HPO|N|
C5539569|An increased level of acetoacetic acid in the blood circulation. Acetoacetic acid is one of the predominant ketone bodies.|HPO|N|
C5539570|An increased amount of 2-hydroxybutyric acid in the urine.|HPO|N|
C5539571|An increased blood concentration of cartilage oligomeric matrix protein (COMP).|HPO|N|
C5539572|Inability to initiate changes in activity or movement and to perform ordinary volitional movements rapidly and easily in the lower extremities.|HPO|N|
C5539573|Inability to initiate changes in activity or movement and to perform ordinary volitional movements rapidly and easily in the upper extremities.|HPO|N|
C5539574|Abnormally diminished movement of the upper extremities. In contrast to paralysis, hypokinesia is not characterized by a lack of motor strength, but rather by a poverty of movement. The typical habitual movements (e.g., folding the arms, crossing the legs) are reduced in frequency.|HPO|N|
C5539575|Abnormally diminished movement of the lower extremities. In contrast to paralysis, hypokinesia is not characterized by a lack of motor strength, but rather by a poverty of movement. The typical habitual movements (e.g., folding the arms, crossing the legs) are reduced in frequency.|HPO|N|
C5539576|Reduced ability to bring the leg toward the midline of the body.|HPO|N|
C5539577|An increased concentration in the blood circulation of a hydroxybutyric acid, that is, of a compound comprising a butyric acid core carrying at least one hydroxy substituent.|HPO|N|
C5539578|Elevation of the 2-hydroxybutyric acid concentration in the blood above the normal range.|HPO|N|
C5539579|Elevation of the 3-hydroxybutyric acid concentration in the blood above the normal range.|HPO|N|
C5539580|Focal proliferation of pulmonary artery endothelial cells, leading to the formation of complex capillary-like channels.|HPO|N|
C5539581|Increased thickness of the intimal layer of the pulmonary artery. Throughout the pulmonary arterial tree, the thin intima consists of a non-fenestrated monolayer of endothelial cells lining the vessel lumen, as well as a sub-endothelial interstitium that extends to the internal elastic lamina. Intimal thickness in human lung ranges from 1-16% of total wall thickness. Pulmonary artery intimal thickening can be defined as a relative intima thickness to the thickness of the vessel wall of over 10%.|HPO|N|
C5539582|Increased amount of collagen, proteoglycans, and other extracellular matrix proteins resulting in scarring and thickening in the adventia of the pulmonary arterial tree.|HPO|N|
C5539583|A form of pulmonary arterial hypertension in which there is a reduction of mean pulmonary artery pressure (mPAP) at leasy 10 mmHg to reach an absolute value of mPAP not more than 40 mmHg with an increased or unchanged cardiac output (CO) in response to inhaled nitric oxide at 10-20 ppm.|HPO|N|
C5539584|A form of pulmonary arterial hypertension with lack of adequate hemodynamic response to NO challenge (adequate response is defined as a reduction of mean pulmonary artery pressure (mPAP) of at least 10 mmHg to reach an absolute value of mPAP 40 mmHg or less with an increased or unchanged cardiac output (CO) in response to inhaled nitric oxide at 10-20 ppm).|HPO|N|
C5539585|Focal accumulation of dilated pulmonary capillaries.|HPO|N|
C5539586|Inflammation of the layers of tissue that cover the brain and spinal cord (meninges) and of the fluid-filled space between the meninges (subarachnoid space) when it is caused by disorders that are not infections or by drugs or vaccines.|HPO|N|
C5539588|A deviation from the normal concentration of a keto acid in the blood circulation. Keto acids or ketoacids are organic compounds that contain a carboxylic acid group and a ketone group.|HPO|N|
C5539589|The concentration of 3-methyl-2-oxovaleric acidin the blood circulation is above the upper limit of normal.|HPO|N|
C5539590|The concentration of 4-methyl-2-oxopentanoic acid in the blood circulation is above the upper limit of normal.|HPO|N|
C5539591|An increased blood concentration of myoglobin.|HPO|N|
C5539592|Concentration of decenoylcarnitine in the blood circulation above the upper limit of normal.|HPO|N|
C5539593|Concentration of octenoylcarnitine in the blood circulation above the upper limit of normal.|HPO|N|
C5539594|Concentration of hexanoylcarnitine in the blood circulation above the upper limit of normal.|HPO|N|
C5539595|Concentration of glutarylcarnitine in the blood circulation above the upper limit of normal.|HPO|N|
C5539596|Increased concentration of propionylcarnitine in the blood circulation.|HPO|N|
C5539597|Concentration of dodecanoylcarnitine (C12:0) in the blood circulation above the upper limit of normal.|HPO|N|
C5539598|An abnormally reduced concentration in the blood circulation of acylcarnitine, which is produced by reversible esterification of the 3-hydroxyl group of carnitine.|HPO|N|
C5539599|Concentration of O-butyrylcarnitine in the blood circulation above the upper limit of normal.|HPO|N|
C5539600|Concentration of O-isovalerylcarnitine in the blood circulation above the upper limit of normal.|HPO|N|
C5539601|Elevation of the midupper arm circumference midway between the acromion and olecranon processes of the ulna with the use of a steel or fiberglass tape. This measure is a proxy for the muscle mass of the upper arm and can be used as a part of the assessment of nutritional status in children.|HPO|N|
C5539602|Reduction of the midupper arm circumference midway between the acromion and olecranon processes of the ulna with the use of a steel or fiberglass tape. This measure is a proxy for the muscle mass of the upper arm and can be used as a part of the assessment of nutritional status in children.|HPO|N|
C5539603|Any deviation from normal concentration of albumin in the blood circulation.|HPO|N|
C5539604|An elevation above the normal concentration of prealbumin in the blood circulation.|HPO|N|
C5539606|Reduced abilty to move the head back towards the ceiling so that one is looking upwards.|HPO|N|
C5539608|Increased amount of a keta acid in the urine.|HPO|N|
C5539609|Increased amount of 3-methyl-2-oxovaleric acid in the urine.|HPO|N|
C5539610|Increased amount of 4-methyl-2-oxopentanoic acid in the urine.|HPO|N|
C5539611|Reduced concentration in the blood circulation of a lipid-transport protein (apoliprotein).|HPO|N|
C5539612|Elevated concentration in the blood circulation of a lipid-transport protein (apoliprotein).|HPO|N|
C5539613|Increased concentration of 3-hydroxylinoleylcarnitine in the blood circulation.|HPO|N|
C5539614|Increased concentration of oleylcarnitine in the blood circulation.|HPO|N|
C5539615|Concentration of 3-hydroxypalmitoleylcarnitine in the blood circulation above the upper limit of normal.|HPO|N|
C5539617|A normal APGAR score can be coded as 'not Low 10-minute APGAR score'.|HPO|N|
C5539625|Decreased ability to move the arm away from the midline of the body.|HPO|N|
C5539626|The presence of autoantibodies in the serum that react against extractable nuclear components that are referred to as extractable because they can be extracted from cell nuclei with saline solution.|HPO|N|
C5539627|A deviation from the normal concentration of lipoprotein lipase in the blood circulation.|HPO|N|
C5539628|Increased concentration of lipoprotein lipase in the blood circulation.|HPO|N|
C5539630|Concentration of bilirubin in the blood circulation below the lower limit of normal.|HPO|N|
C5539631|Reduced range of motion resulting in decreased ability to move the ear toward the top of the shoulder.|HPO|N|
C5539632|A reduced ability to flex the shoulder. Shoulder flexion is the motion that moves the arms from a resting position by the side of the body to a position above the head.|HPO|N|
C5539633|Folding of cytoplasmic processes of podocytes into the glomerular basement membrane (GBM) with thickening of the lamina densa and microspheres and/or microtubular structures within the GBM.|HPO|N|
C5539634|Increased concentration of linoleylcarnitine in the blood circulation.|HPO|N|
C5539635|A point of rupture in the glomerular basement membrane (GBM) where the discontinuous portions of GBM are still identifiable with a basement membrane stain such as Periodic acid Schiff (PAS) or silver.|HPO|N|
C5539636|Anomalous appearance or structure of the surface of the glomerular basement membrane.|HPO|N|
C5539637|Punctate electron-dense material typically in a band-like distribution along the lamina rara interna and within tubular basement membranes within the subendothelial aspect of the glomerular basement membrane.|HPO|N|
C5539638|Increased number of leukocytes internal to the glomerular basement membrane (GBM), but not limited to within glomerular capillaries.|HPO|N|
C5539639|Increased number of neutrophils internal to the glomerular basement membrane (GBM), but not limited to within glomerular capillaries.|HPO|N|
C5539640|Presence of lipid-filled cells, often a macrophage, with a vacuolated appearance in the glomerulus often occupying the endocapillary space.|HPO|N|
C5539641|A generalized global (over 80%) increase of mesangial matrix that is present throughout the mesangial stalk (with or without associated mesangial hypercellularity).|HPO|N|
C5539642|Reorganization of podocyte cytoskeletal proteins at the glomerular basement membrane (GBM) aspect of the cell, with associated cytoplasmic electron density at the GBM aspect of the podocyte.|HPO|N|
C5539643|Amyloid spicules are projections of typically silver-positive material from the outer aspect of the glomerular capillary wall, perpendicular to the glomerular basement membrane (GBM), most often caused by amyloidosis with the latter confirmed by additional stains.|HPO|N|
C5539644|Segmental solidification of the glomerular tuft by increased extracellular matrix, causing glomerular capillary obliteration is present at the vascular pole, involving less than 50% of the tuft. It can be accompanied by other descriptors such as hyalinosis, foam cells, hypertrophy of overlying glomerular epithelial cells, podocyte depletion, halo and adhesion of the tuft to the Bowman's capsule.|HPO|N|
C5539645|Segmental solidification of the glomerular tuft characterized by an adhesion at the tip of the glomerular tuft abutting the proximal tubular taek-off can be accompanied by increased extracellular matrix, causing glomerular capillary obliteration at the glomerular tip. Features including hyalinosis, foam cells, hypertrophy of overlying glomerular epithelial cells can also be observed.|HPO|N|
C5539646|Segmental solidification of the glomerular tuft characterized by increased extracellular matrix, causing glomerular capillary obliteration at neirhter the tubular or vascular poles. Features including hyalinosis, foam cells, hypertrophy of overlying glomerular epithelial cells can also be observed.|HPO|N|
C5539647|Electron-dense deposits in the lamina densa with a ribbon or a sausage structure.|HPO|N|
C5539648|Electron dense deposits in the glomerular basement membrane (GBM) subendothelial space associated with a prominent GBM reflecting an increase in thickness. This feature can be associated with GBM remodeling along the endothelial aspect.|HPO|N|
C5539649|Prominent glomerular basement membrane (GBM) reflecting a diffuse and relativly uniform increase in thickness (subjective estimate) with exogenous material deposited between the outer (epithelial) aspect of the GBM and the visceral epithelial cell, with varying degrees of incorporation into the GBM.|HPO|N|
C5539650|Any deviation from the normal ratio of acylcarnitine (i.e., esterified carnitine) to free carnitine.|HPO|N|
C5539652|An increased concentration of fumarate, an intermediate in the citric acid cycle, in the blood circulation.|HPO|N|
C5539653|An elevated ratio of acylcarnitine (i.e., esterified carnitine) to free carnitine.|HPO|N|
C5539654|A reduced ratio of acylcarnitine (i.e., esterified carnitine) to free carnitine.|HPO|N|
C5539655|Inflammation of the meninges related to infection by Epstein-Barr virus.|HPO|N|
C5539656|Inflamation of the brain related to infection by Epstein-Barr virus.|HPO|N|
C5539657|A structural anomaly of the part of the sperm flagellum that is distal to the sperm midpiece and mitochondrial sheath and which leads into the end piece.|HPO|N|
C5539658|Absense of the central pair of microtubules in the sperm axoneme, thereby forming a 9+0 pattern instead of the normal 9+2 pattern.|HPO|N|
C5539659|Reduced ability to move the foot up toward the shin.|HPO|N|
C5539660|A reduced amount of testosterone relative in androstenedione in the blood circulation following administration of hCG (Human Chorionic Gonadotropin).|HPO|N|
C5539661|A deviation from normal Cardiac output, which is defined as the amount of blood pumped by the heart minute and is the mechanism whereby blood flows around the body, especially providing blood flow to the brain and other vital organs.|HPO|N|
C5539662|An increased concentration of brain natriuretic peptide in the blood circulation.|HPO|N|
C5539663|Decreased number of platelet dense granules, a type of platelet organelle.|HPO|N|
C5539664|A reduced number of platelet alpha granules.|HPO|N|
C5539665|Mosaic attenuation refers to heterogeneous areas of differing pulmonary attenuation on CT imaging.|HPO|N|
C5539666|Pathological deposition of calcium salts in the aortic annulus, a fibrous ring-like structure found at the insertion point of the basal attachments of the aortic valve leaflets within the left ventricular outflow tract.|HPO|N|
C5539667|A reticular pattern of linear or lineonodular densities in apical portions of both the right and left lungs seen initially on high-resolution computed tomography and in case of progression also on standard chest x-ray.|HPO|N|
C5539668|Airflow obstruction with a significant response to a bronchodilator defined as an increase in FEV1 and/or FVC by 12 percent or more and by at least 200 mL.|HPO|N|
C5539669|Airflow obstruction without significant response to a bronchodilator defined as an increase in FEV1 and/or FVC by 12 percent or more and by at least 200 mL.|HPO|N|
C5539670|Extracellular mesangial accumulation of slender proteinaceous fibers.|HPO|N|
C5539671|Extracellular mesangial aggregates composed of randomly arranged, straight, non-branching fibrils that are thicker than amyloid fibrils (average diameter about 20 nm) and are often admixed with smudgy, electron-dense material.|HPO|N|
C5539672|Unbranched noncollagenous microfibrils within the mesangial matrix, composed of proteins not present within the glomerular basement membrane (GBM), most notably fibrillin-1, that attach to mesangial cells and GBM structural proteins.|HPO|N|
C5539673|Extracellular mesangial aggregates composed of non-branching fibrils, focally parralel over 30 nM in diameter. The term immunotactoid refers to highly organized immune depositions appearing as rod-like microtubular structures in ultrastructural examination.|HPO|N|
C5539674|Extracellular mesangial aggregates composed of fine, randomly oriented, non-branching fibrils 8-12 nm in diameter, often forming a cottony mass.|HPO|N|
C5539675|Lobular, round to oval mesangial lesions with an acellular hyaline/matrix core surrounded by compressed mesangial nuclei.|HPO|N|
C5539676|A granuloma that is associated with necrotic changes. Caseation necrosis is defined as a region in granulomas with eosinophilic, granular and cheese-like cellular debris with necrosis. The word caseous itself means pertaining or related to cheese, and comes from the Latin word caseus, meaning cheese.|HPO|N|
C5539677|A granuloma located in the lung that is not associated with necrotic changes.|HPO|N|
C5539679|The presence of autoantibodies in the blood circulation that react against the Mi-2 antigen.|HPO|N|
C5539680|The presence of autoantibodies in the blood circulation that react against Ro/SSA autoantigens.|HPO|N|
C5539681|The presence of autoantibodies (immunoglobulins) in the serum that react against nucleoporin 62.|HPO|N|
C5539682|The presence of autoantibodies in the blood circulation that react against proteinase 3. Proteinase 3 (PR3) antigen is a 29-kD serine protease that exists as a protein triplet in human neutrophils|HPO|N|
C5539683|The presence of autoantibodies in the blood circulation that react against histone antigens.|HPO|N|
C5539684|The presence of autoantibodies in the blood circulation that react against myeloperoxidase.|HPO|N|
C5539685|Anti-PM-Scl antibodies target components of RNA-processing exosome complex in the nucleolus. There are ten proteins in this complex and antibodies to eight of them are found at varying frequencies; PM/Scl-100, PM/Scl-75, hRrp4, hRrp42, hRrp46, hCs14, hRrp41, and hRrp40.|HPO|N|
C5539686|The presence of autoantibodies in the blood circulation that react against bactericidal/permeability-increasing protein (BPI). BPI is an endotoxin-binding host protein with important antibacterial effects against Gram-negative bacteria, such as Pseudomonas aeruginosa. BPI is a 55 kDalton protein that is most abundant in the azurophilic granules of neutrophils. BPI also acts as a target antigen for antineutrophil cytoplasmic autoantibodies.|HPO|N|
C5539687|The presence of autoantibodies (immunoglobulins) in the serum that react against glycoprotein-210.|HPO|N|
C5539688|The presence of autoantibodies (immunoglobulins) in the serum that react against tissue transglutaminase.|HPO|N|
C5539689|The presence of autoantibodies (immunoglobulins) in the blood circulation that react against epidermal transglutaminase.|HPO|N|
C5539690|A kind of abnormal ventricular axis in the EKG whereby the QRS axis fall sbetween -90 degrees and 180 degrees. In this case, the ventricular vector is directed upward and to the right.|HPO|N|
C5539691|A kind of abnormal ventricular axis in the EKG whereby the QRS complex is isoelectric or equiphasic in all leads with no dominant QRS deflection.|HPO|N|
C5539692|The presence of small, tortuous, micronodular, serpiginous intrapulmonary vessels often in the subpleural lung or in proximity to centrilobular arterioles, coursing in directions inconsistent with known arteriolar anatomy.|HPO|N|
C5539693|The presence of autoantibodies in the blood circulation that react against histone H1.|HPO|N|
C5539694|The presence of autoantibodies in the blood circulation that react against histone H4.|HPO|N|
C5539695|The presence of autoantibodies in the blood circulation that react against histone H3.|HPO|N|
C5539696|The presence of autoantibodies in the blood circulation that react against histone H2B.|HPO|N|
C5539697|Localized thrombosis in pulmonary arteries frequently found in patients with idiopathic and hereditary pulmonary arterial hypertension and pulmonary arterial hypertension associated with congenital heart disease.|HPO|N|
C5539698|Insufficient growth hormone secretion following administration of growth hormone-releasing hormone.|HPO|N|
C5539699|An abnormal finding in a compound motor action potential measurement in EMG. Nerve conduction studies involve the application of a depolarising square wave electrical pulses to the skin over a peripheral nerve producing|HPO|N|
C5539700|The absence of any palpable lymph nodes in the presence of symptoms suggesting infection in that drainage area should raise suspicion for immunodeficiency diseases.|HPO|N|
C5539701|Abnormal accumulation of lymphocytes in the interstitium of the lung.|HPO|N|
C5539702|A type of non-specific interstitial pneumonia in which interstitial thickening is due to uniform dense or loose fibrosis and mild chronic inflammation.|HPO|N|
C5539703|A type of non-specific interstitial pneumonia in which interstitial thickening is mainly due to infiltration of inflammatory cells and type II pneumocyte hyperplasia.|HPO|N|
C5539704|The presence of autoantibodies in the blood circulation that react against the H3-H4 histone dimer.|HPO|N|
C5539705|The presence of autoantibodies in the blood circulation that react against the H2A-H2B histone dimer.|HPO|N|
C5539706|An abnormally increased amount of 7-biopterin in the urine.|HPO|N|
C5539707|Increased concentration of globotriaosylceramide (Gb3) in the blood circulation. Globotriaosylceramide, also named ceramidetrihexoside, is the primary lipid storage in Fabry disease.|HPO|N|
C5539708|An abnormally increased amount of 3-methylcrotonylglycine in the urine.|HPO|N|
C5539709|Reduced activity of the linked disaccharidase, sucrase-isomaltase, which is a glycoprotein localized to the brush border membrane of small intestinal villi.|HPO|N|
C5539710|Fibrillar deposits located between the outer (epithelial) aspect of the glomerular basement membrane (GBM) and the visceral epithelial cell, with varying degrees of incorporation into the GBM. This feature is associated with a prominent GBM reflecting an diffuse and relatively uniform increase in thickness (subjective estimate).|HPO|N|
C5539711|A type of fibrillar glomerular subepithelial deposit characterized by extracellular aggregates composed of fine, randomly oriented, non-branching fibrils 8-12 nm in diameter, often forming a cottony mass. This feature is associated with a prominent glomerular basement membrane (GBM) reflecting an diffuse and relativly uniform increase in thickness (subjective estimate).|HPO|N|
C5539712|A type of fibrillar glomerular subepithelial deposit characterized by extracellular aggregates of randomly arranged, straight, non-branching fibrils that are thicker than amyloid fibrils (average diameter about 20 nm) and are often admixed with smudgy, electron-dense material. This feature is associated with a prominent glomerular basement membrane (GBM) reflecting an diffuse and relativly uniform increase in thickness (subjective estimate).|HPO|N|
C5539713|A type of glomerular subepithelial deposit characterized by finely granular material deposited between the outer (epithelial) aspect of the glomerular basement membrane (GBM) and the visceral epithelial cell, with varying degrees of incorporation into the GBM and corresponding to immunoglobulin and/or complement by immunofluorescence/immunohistochemistry. This feature is associated with a prominent GBM reflecting an diffuse and relativly uniform increase in thickness (subjective estimate).|HPO|N|
C5539714|A type of glomerular subepithelial deposit characterized by a moderately electron-dense, generally homogenous, amorphous-appearing extracellular material located between the outer (epithelial) aspect of the glomerular basement membrane (GBM) and the visceral epithelial cell, with varying degrees of incorporation into the GBM. This feature is associated with a prominent GBM reflecting an diffuse and relativly uniform increase in thickness (subjective estimate).|HPO|N|
C5539715|Deposits located between the outer (epithelial) aspect of the glomerular basement membrane (GBM) and the visceral epithelial cell, with varying degrees of incorporation into the GBM. This feature may be associated with a prominent GBM reflecting an diffuse and relativly uniform increase in thickness (subjective estimate).|HPO|N|
C5539716|Glomerulus showing markedly and irregularly thickened capillary walls with massive fuchsinophilic subendothelial deposits, resulting in narrowing of capillary lumina. This feature is said to resemble a wire loop.|HPO|N|
C5539718|A type of bone marrow maturation arrest characterized by accumulation of neutrophil precursor cells in the bone marrow.|HPO|N|
C5539719|Part-solid pulmonary nodules are nodules that present with both ground-glass and solid components in which the underlying lung architecture cannot be visualized.|HPO|N|
C5539720|Solid, homogenous nodules characterized by a smooth margin and oval, rounded, lentiform or triangular shape. They are typically located within 15 mm from the issue or the pleura. Perifissural nodules may be further differentiated into typical (have contact with interlobar septum) and atypical (do not have contact with interlobar septum). They likely represent intrapulmonary lymphnodes.|HPO|N|
C5539721|Accessory bronchus originating from trachea replacing one of the segmental branches of the anatomically normal upper lobe bronchus.|HPO|N|
C5539722|Accessory bronchus originating from the medial wall of the right or left ban bronchus or bronchus intermedius. A cardiac bronchus is usually blind-ended.|HPO|N|
C5539723|Accessory bronchus which exits the trachea in addition to an anatomically normal branching upper lobe bronchus.|HPO|N|
C5539724|A perifissural nodule that has contact with the interlobar septum (and is therefore considered typical).|HPO|N|
C5539725|A perifissural nodule that does not have contact with the interlobar septum (and is therefore considered atypical).|HPO|N|
C5539726|A migratory, centrifugal, erythematous, tender, non-purpuric, and well-demarcated plaque. This feature may be observed in TNF receptor-associated periodic syndrome, in which it often occurs together with migratory myalgia in muscles located underneath the affected areas of skin.|HPO|N|
C5539727|A congenital cytomegalovirus (CMV) infection of the newborn can follow either a primary or recurrent maternal infection. Jaundice, petechiae, and hepatosplenomegaly are the most frequently noted clinical triad in symptomatic infants. Affected infants may develop permanent disabilities such as hearing loss, vision loss, motor and cognitive deficits.|HPO|N|
C5539728|Increase above normal levels of non-HDL cholesterol in the blood. Non-HDL cholesterol is total cholesterol minus high-density lipoprotein HDL-cholesterol (high-density lipoprotein-cholesterol).|HPO|N|
C5539729|Concentration of harderoporphyrin in the urine, normalized for urine concentration, is above the upper limit of normal.|HPO|N|
C5539730|The presence of an antibody of subclass IgG4 in the blood circulation that is directed against the organism's own cells or tissues.|HPO|N|
C5539731|Alveolar volume (VA) is a volume accessible during 10-second breath-hold, measured during a single breath manouver. VA is calculated by knowing the fractional concentration of the tracer gas (eg helium) and the volume of the gas inhaled. VA = Vi*(Fi tracer/Fa tracer). In this equation, Vi = inspired volume of tracer gas, Fi tracer= inspired fraction of tracer gas, Fa tracer = alveolar (exhaled) fraction of tracer gas.|HPO|N|
C5539732|An abnormal reduction in alveolar volume.|HPO|N|
C5539733|An abnormal elevation in alveolar volume.|HPO|N|
C5539734|Combined pre- and post-capillary pulmonary hypertension is a haemodynamic condition characterized by elevated mean pulmonary artery pressure (mPAP over 20 mmHg) and pulmonary artery wedge pressure (PAWP over 15 mmHg) and pulmonary vascular resistance (PVR at least 3 Wodd units).|HPO|N|
C5539735|The presence of autoantibodies (immunoglobulins) in the blood circulation that react against endomysial tissue transglutaminase 2 (tTG2).|HPO|N|
C5539736|Intralobular septal thickening is a computed tomography finding of increased width of the walls (septa) within a pulmonary lobule. Secondary pulmonary lobules represent a cluster of up to 30 acini 9 supplied by a common distal pulmonary artery and bronchiole. These clustered acini are bounded by interstitial fibrous septa (interlobular septa) which outline an irregular polyhedron of varying size between 1 and 2.5 cm. Interlobular septal thickening is seen on chest radiographs as thin linear opacities at right angles to and in contact with the lateral pleural surfaces near the lung bases. In contrast, intralobular septal thickening are visible as fine linear opacities in a lobule when the intralobular interstitial tissue is abnormally thickened. When numerous, they may appear as a fine reticular pattern.|HPO|N|
C5539737|Erosion (loss of substance) of the acetabular subchondral cortical bone. The acetabulum is the concave surface that meets with the head of the femur, forming the hip joint.|HPO|N|
C5539738|Deposition of calcium salts in the leaflets (cusps) of the aortic valve.|HPO|N|
C5539739|Deposition of calcium salts in the leaflets (cusps) of the mitral valve.|HPO|N|
C5539740|Increased concentation of very long-chain fatty acids in the blood circulation. Very long-chain fatty acids are fatty acids (FAs) with a chain-length of 22 or more carbons.|HPO|N|
C5539741|Increased concentration of erythropoietin in the blood circulation. Erythropoietin is a glycoprotein hormone produced by the peritubular cells of the kidney that stimulates red blood cell production.|HPO|N|
C5539742|The silhouette sign is the absence of depiction of an anatomic soft-tissue border. It is caused by consolidation and/or atelectasis of the adjacent lung, by a large mass, or by contiguous pleural fluid. The silhouette sign results from the juxtaposition of structures of similar radiographic attenuation. The sign actually refers to the absence of a silhouette.|HPO|N|
C5539743|A pseudocavity appears as an oval or round area of low attenuation in lung nodules, masses, or areas of consolidation that represent spared parenchyma, normal or ectatic bronchi, or focal emphysema rather than cavitation. These pseudocavities usually measure less than 1 cm in diameter. They have been described in patients with adenocarcinoma, bronchioloalveolar carcinoma, and benign conditions such as infectious pneumonia.|HPO|N|
C5539744|A parenchymal band is a linear opacity, usually 1-3 mm thick and up to 5 cm long that usually extends to the visceral pleura (which is often thickened and may be retracted at the site of contact). It reflects pleuroparenchymal fibrosis and is usually associated with distortion of the lung architecture. Parenchymal bands are most frequently encountered in individuals who have been exposed to asbestos.|HPO|N|
C5539745|A mycetoma is a discrete mass of intertwined hyphae, usually of an Aspergillus species, matted together by mucus, fibrin, and cellular debris colonizing a cavity, usually from prior fibrocavitary disease (eg, tuberculosis or sarcoidosis). A mycetoma may move to a dependent location when the patient changes position and may show an air crescent sign. CT scans may show a spongelike pattern and foci of calcification in the mycetoma.|HPO|N|
C5539746|Irregular and nodular thickening of interlobular septa reminiscent of a row of beads.|HPO|N|
C5539747|A gas-filled space, seen as lucency or low-attenuation area, within a nodule, mass or area of parenchymal consolidations. It has a clearly defined wall over 4 mm thick.|HPO|N|
C5539748|A juxtaphrenic peak is a small triangular opacity based at the apex of the dome of a hemidiaphragm, associated with upper lobe volume loss of any cause (eg, postirradiation fibrosis or upper lobectomy). It is most readily appreciated on a frontal chest radiograph. The peak is caused by upward retraction of the inferior accessory fissure or an intrapulmonary septum associated with the pulmonary ligament.|HPO|N|
C5539749|An air crescent is a collection of air in a crescentic shape that separates the wall of a cavity from an inner mass. The air crescent sign is often considered characteristic of either Aspergillus colonization of preexisting cavities or retraction of infarcted lung in angioinvasive aspergillosis. However, the air crescent sign has also been reported in other conditions, including tuberculosis, Wegener granulomatosis, intracavitary hemorrhage, and lung cancer.|HPO|N|
C5539750|A reduction in an individual's subjective assessment of his or her sense of well-being and ability to perform social roles.|HPO|N|
C5539751|A reduction in the ability to perform activities of daily living as compared to previous abilities because of functional deficits due to illness. The 36-item Short Form (SF-36) health survey questionnaire is one of many methods used to measure patients' perceptions of diminished physical functioning.|HPO|N|
C5539752|A structural anomaly of the amygdala.|HPO|N|
C5539753|A increase in the volume (size) of the amygdyla.|HPO|N|
C5539754|Oligemia is a reduction in pulmonary blood volume. Most frequently, this reduction is regional, but occasionally it is generalized. Regional oligemia is usually associated with reduced blood flow in the oligemic area. Oligemia appears as a regional or widespread decrease in the size and number of identifiable pulmonary vessels, which is indicative of less than normal blood flow.|HPO|N|
C5539755|The Tinel test is performed by lightly tapping (percussing) over the median nerve. It is positive (abnormal) if the patient experiences pain and paresthesias (tingling, numbness) along the distribution of the median nerve.|HPO|N|
C5539756|Pulmonary blood flow redistribution refers to any departure from the normal distribution of blood flow in the lungs that is caused by an increase in pulmonary vascular resistance elsewhere in the pulmonary vascular bed. Pulmonary blood flow redistribution is indicated by a decrease in the size and/or number of visible pulmonary vessels in one or more lung regions, with a corresponding increase in number and/or size of pulmonary vessels in other parts of the lung.|HPO|N|
C5539757|A behavioral or psychological symptom that typically occurs following exposure to one or more traumatic events is posttraumatic stress disorder (PTSD). Symptoms of PTSD include intrusive recollections, such as re-experiencing the trauma through flashbacks, memories, or nightmares. Additionally, individuals may experience avoidant and numbing symptoms, which can include diminished emotions and avoidance of situations that serve as reminders of the traumatic event. Hyperarousal is another symptom, characterized by increased irritability, exaggerated startle reactions, and difficulties with sleeping or concentrating.|HPO|N|
C5539758|Any structural anomaly of the red nucleus, a part of the midbrain involved in control of movement.|HPO|N|
C5539759|Ay deviation from the normal distribution of fiber types in skeletal muscle. The skeletal muscle groups of the mammalian body are made up of bundles of muscle fibers. These fibers can be assigned to different Types, with characteristic movement rates, response to neural inputs, and metabolic styles. Skeletal muscle fibers are broadly classified as slow-twitch (type 1) and fast-twitch (type 2). Multiple fiber types are generally intermingled within a single muscle group, and different muscle groups have varying proportions of fiber types|HPO|N|
C5539760|A reduction in the ability to retrieve information about how to perform activities, such as how to ride a bike or drive a car, how to perform activities of daily living, or how to play a musical instrument.|HPO|N|
C5539761|Impaired ability to remember facts and events.|HPO|N|
C5539762|This is a general term that denotes a reduced ability to perform the work that one performed prior to an illness, and may be related to pain, cognitive dysfunction, fatigue or other physical disabilities.|HPO|N|
C5539763|Acral areas of erythema with vesicles or pustules. The lesions resemble chilblains and have purpuric areas, affecting hands and feet.|HPO|N|
C5539764|A type of vesicular eruption in which the vesicles are at same stages.|HPO|N|
C5539765|A type of vesicular eruption in which the vesicles are at different stages.|HPO|N|
C5539766|Increased density related to increased bone mass in the outermost layer (edge) of the iliac wing.|HPO|N|
C5539767|This finding is a thin curvilinear opacity, 1-3 mm in thickness, lying less than 1 cm from and parallel to the pleural surface. It corresponds to atelectasis of normal lung if seen in the dependent posteroinferior portion of lung of a patient in the supine position and is subsequently shown to disappear on CT sections acquired with the patient prone. It may also be encountered in patients with pulmonary edema or fibrosis (other signs are usually present).|HPO|N|
C5539768|An increased amount of homogentisic acid in the urine.|HPO|N|
C5539769|Increased thickness of the stratum corneum (the outer layer of the skin) in the skin surrounding the mouth.|HPO|N|
C5539771|An increase in the amount of airway mucus. This feature may be characterized by frequent or excessive throat clearing (exhalation through tightly constricted laryngopharyngeal tissues accompanied by vibration of the palatoglossal arch and the vocal folds serving to clear mucus from the airway).|HPO|N|
C5539772|Pathological thickening of the pulmonary interstitium visualized radiographically and divided into interlobular and intralobular septal thickening.|HPO|N|
C5539773|Repeated implantation failure refers to a situation in which embryos of good quality fail to implant following several in vitro fertilization (IVF) treatment cycles.|HPO|N|
C5539774|The presence of autoantibodies (immunoglobulins) in the serum that react against anti-signal recognition particle.|HPO|N|
C5539775|Focal epileptiform EEG discharges recorded in the frontal region.|HPO|N|
C5539776|Focal epileptiform EEG discharges recorded in the temporal region.|HPO|N|
C5539777|Focal epileptiform EEG discharges recorded in the central region.|HPO|N|
C5539778|Focal epileptiform EEG discharges recorded in the parietal region.|HPO|N|
C5539779|Focal epileptiform EEG discharges recorded in the occipital region.|HPO|N|
C5539780|Focal epileptiform EEG discharges recorded in the centrotemporal region.|HPO|N|
C5539781|An autonomic epileptic aura is a purely subjective manifestation of an epileptic seizure pertaining to autonomic nervous system function. Autonomic auras include cardiorespiratory (e.g., palpitations and shortness of breath), gastrointestinal, genitourinary (genital sensations, urinary urge), and cutaneous (feeling of warmth or cold) sensations. Abdominal auras constitute the most common type of autonomic aura. These include sensations of nausea, pain, or indescribable discomfort in the abdominal or periumbilical area that can be static, rise to the chest and throat, or descend into the lower abdominal region.|HPO|N|
C5539782|Abnormal structure of the venous sinuses that drain blood from the cerebral veins and cerebrospinal fluid (CSF) from the arachnoid granulations to the internal jugular veins.|HPO|N|
C5539784|Vesicoureteral reflux without dilation of the renal calyces (Grade I-II).|HPO|N|
C5539785|Vesicoureteral reflux with dilation of the renal calyces (Grade III - V).|HPO|N|
C5539786|Vesicoureteral reflux due to abnormalities in ureterovesical junction, e.g. ectopic insertion of the ureter or short intravesical tunnel at the ureterovesical junction.|HPO|N|
C5539787|Severe vesicoureteral reflux reaching the kidney parenchyma.|HPO|N|
C5539788|A congenital defect characterized by lack of development of the macula.|HPO|N|
C5539789|A type of cerebellar dysplasia that affects the entire cerebellum.|HPO|N|
C5539790|A type of somatic sensory dysfunction characterized by abnormality of superficial sensation that is mediated by receptors in skin and mucous membranes.|HPO|N|
C5539791|An abnormal reduction in the volume remaining in the lungs after a normal, passive exhalation.|HPO|N|
C5539792|An abnormal increase in the volume remaining in the lungs after a normal, passive exhalation.|HPO|N|
C5539793|Any deviation from normal values of the residual volume, which is defined as the volume of air left in the lungs at the end of maximal expiration (ie. the volume of air which you cannot voluntarily exhale from your lungs).|HPO|N|
C5539794|Abnormal decrease in the amount of air remaining in a person's lungs after full exhalation.|HPO|N|
C5539795|Any deviation from the normal range of end-diastolic volume of the left ventricle, which is the volume of blood in the left ventricle at the end of diastole (just before systole).|HPO|N|
C5539796|Abnormally low volume of blood in the left ventricle at the end of diastole (just before systole).|HPO|N|
C5539797|Decreased renal tubular reabsorption of magnesium.|HPO|N|
C5539798|Maximum oxygen uptake (VO2max) is defined as the highest rate of oxygen uptake and utilization by the body during intense, maximal exercise, whereby further increases in work rate do not bring on additional rises in VO2 (i.e. plateau). VO2Max is typically measured with a treadmill anad ergometer and the participant exercises with increasing levels of intensity. VO2Max is the point at which oxygen uptake no longer increases despite an increase in workload.|HPO|N|
C5539802|Abnormally high or low single motor unit action potential reading (-Pk Amps).|HPO|N|
C5539803|Any deviation from the normal ratio of residual volume (RV) to total lung capacity (TLC) on pulmonary function testing. RV is the amount of air remaining aftermaximal expiration and TLC is the total amount of air in theungs at full inspiration. These volumes cannot be determined by spirometry, but can be measured by inert gas dilution, nitrogen washout, and body plethysmography.|HPO|N|
C5539804|An abnormally low ratio of residual volume (RV) to total lung capacity (TLC) on pulmonary function testing. RV is the amount of air remaining after maximal expiration and TLC is the total amount of air in the lungs at full inspiration. These volumes cannot be determined by spirometry, but can be measured by inert gas dilution, nitrogen washout, and body plethysmography.|HPO|N|
C5539805|Decreased renal tubular reabsorption of uric acid.|HPO|N|
C5539806|An abnormal pulmonary imaging finding defined by eponym or reference to signs, symbols, or naturalistic images.|HPO|N|
C5539807|An additional cusp located in the middle of the occlusal surface.|HPO|N|
C5539808|A tooth crown with convex mesial and distal surfaces.|HPO|N|
C5539809|A tooth crown with a marked cervical area constriction.|HPO|N|
C5539810|Molar incisor malfomation (MIM) is composed of normal crown with marked cervical constriction, thin, narrow short roots which is a combination of signs that occurs in deciduous and permanent molars.|HPO|N|
C5539812|A thistle tube shape of the pulp chamber, meaning an enlarged coronal pulp chamber with narrow pulp canals giving a radiographic appearance of the shape of a thistle tube or a flame. It may occur isolated or associated with other dental anomalies and rare diseases such as dentinogenesis imperfecta, which should be assessed and coded separately. The diagnosis thistle tube shape pulp requires clinical and radiographic examinations.|HPO|N|
C5539815|A functional abnormality of a white blood cell.|HPO|N|
C5539816|Any abnormality of leukocyte motility in response to chemokines, which is required for the inflammatory response to infections, and for organ development, tissues homeostasis, and vascularization.|HPO|N|
C5539817|During states of inflammation, white blood cells (leukocytes) play a key role in maintaining tissue homeostasis through elimination of pathogens and removal of damaged tissue. Leukocytes migrate to the site of inflammation by crawling over and through the blood vessel wall, into the tissue. This term refers to a defect in the attachment of leukocytes to the blood vessel wall, which is a key step required before they can pass through gaps of the endothelial cells of the blood vessel wall to migrate to the site of inflammation.|HPO|N|
C5539818|Any deviation from the normal concentration of a sex hormone in the blood circulation|HPO|N|
C5539819|Blistering (presence of multiple fluid filled blisters) categorized according to the body site where they occur.|HPO|N|
C5539820|Blistering (presence of multiple fluid filled blisters) categorized according to the layer of the skin in which the blister originates. The skin is divided into three layers. The epidermis (outermost layer, which mainly consists of keratinocytes), the dermis, and a subcutaneous layer. The epidermis is divided into five layers|HPO|N|
C5539821|A type of blistering in which the lesions are located within the epidermis with loss of cell-cell adhesion of keratinocytes. In simplex EB, cleavage occurs in the basal layer, which is the innermost layer of the epidermis and consists of a single layer of basal germinative cells (mostly epidermal Keratinocytes) that proliferate and thereby produce new cells for other epidermal layers. As the cells move towards the upper layers of the epidermis they mature and eventually form cornified cells. The suprabasal cell layer lies directly above the basal layer and is composed of five to ten layers of cells.|HPO|N|
C5539822|A type of blistering in which the cleavage plane of blisters is located below the lamina densa.|HPO|N|
C5539823|An abnormal structure of the stratum granulosum, which is is a thin layer of cells in the epidermis lying above the stratum spinosum and below the stratum corneum.|HPO|N|
C5539824|Lack of keratohyalin granules, which are normally present in the stratum granulosum of the epidermal layer of the skin.|HPO|N|
C5539825|Increased concentration of 17alpha-hydroxypregnenolone in the blood circulation. 17alpha-hydroxypregnenolone is a 21-carbon steroid that is converted from pregnenolone by steroid 17-alpha-hydroxylase, as an intermediate in the biosynthesis of gonadal steroid hormones and adrenal corticosteroids.|HPO|N|
C5539826|A reduced concentration of dihydrotestosterone in the blood circulation.|HPO|N|
C5539827|Any deviation from the normal concentration of androstenedione in the blood circulation.|HPO|N|
C5539828|Reduced concentration of androstenedione in the blood circulation.|HPO|N|
C5539833|A mass is any pulmonary, pleural, or mediastinal lesion seen on chest radiographs as an opacity greater than 3 cm in diameter (without regard to contour, border, or density characteristics). Mass usually implies a solid or partly solid opacity. CT allows more exact evaluation of size, location, attenuation, and other features.|HPO|N|
C5539834|A type of mediastinal mass that is located below the thoracic plane (a horizontal line that runs from the manubriosternal joint (sternal angle or angle of Louis) to the inferior endplate of T4).|HPO|N|
C5539835|A type of inferior mediastinal mass that is located withinthe pericardium.|HPO|N|
C5539836|A type of pulmonary mass with high attenuation.|HPO|N|
C5539837|Thick-walled abnormal gas-filled interstitial mass within a lung with a diameter greater than 30 mm.|HPO|N|
C5539839|Increased concentration of the interleukin-2 receptor alpha-chain (CD25) in the blood circulation. CD25 is shed upon immune activation. Increased levels of soluble CD25, therefore, are an indication of an on-going immune response.|HPO|N|
C5539840|Anomalous structure of a blood vessel in the kidney.|HPO|N|
C5539841|An anomalous structure of an artery located in the kidney.|HPO|N|
C5539842|Anomalous structure of the arc-shaped arteries located at the border of the renal cortex and renal medulla.|HPO|N|
C5539843|Feeling excessively full after meals.|HPO|N|
C5539844|Reduced amount of myelin in the spinal cord resulting from defective myelinogenesis.|HPO|N|
C5539845|The term bilingual aphasia is used to refer to aphasia in persons who speak two or more languages. When a multilingual speaker has aphasia following a stroke, the languages spoken premorbidly may show comparable or differential patterns of impairment. Differential patterns may manifest as greater impairment in one language compared to another, or as differences in the characteristics of aphasia. Clinical reports of bilingual aphasia show dissociations in the processing of the language learned first (L1) and and second (L2), with one language more impaired than the other. Other cases show a pattern of differential recovery where L2 is recovered only after L1. Another pattern is alternating antagonism; i.e., patients access one language in spontaneous speech and inhibit the other language for alternating periods. This term should be used for a type of aphasia in a person who speaks multiple languages in which the impairment is different for different languages.|HPO|N|
C5539846|Elevation of the upper eyelid on attempted downward gaze or adduction, adduction of the eye on attempted upward or downward gaze, and constriction of the pupil on attempted adduction.|HPO|N|
C5539847|Any structural anomaly of the arcuate vein. The arcuate veins cross traverse along the corticomedullary junction (at the border of the kideny cortex and medulla).|HPO|N|
C5539848|Any structural anomaly of the interlobular veins of the kidney. An interlobular vein is surrounded by the renal cortex and located between renal lobules (consisting of the nephrons surrounding a single medullary ray and draining into a single collecting duct).|HPO|N|
C5539849|Any structural anomaly located in the the inside space of the interlobular veins of the kidney.|HPO|N|
C5539850|Needle-like or slit-like clefts within the interior space of interlobular veins. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin.|HPO|N|
C5539851|Mixture of fibrin, red blood cells, platelets partly or completely occluding vascular lumen of the interlobular veins of the kidney.|HPO|N|
C5539852|Thrombi containg fibrous tissue and capillary-like vascular channels located within the lumen of the interlobular veins of the kidney.|HPO|N|
C5539854|Abnormal finding by magnetic resonance imaging (MRI), which uses non-ionizing radiation via a strong magnetic field and radio frequency energy to generate three dimensional images. This term comprises findings that are specific to MRI. Findings such as ventricular spetum defect that can be detected by multiple modalities should be coded separately.|HPO|N|
C5539855|Increased duration of myocardial T2 time without gadolinium contrast. Elevated T2, which can detect myocardial edema.|HPO|N|
C5539856|Areas of high signal intensity in magnetic resonance imaging of the heart appearing 10 to 15 minutes after injection of the intercellular contrast agent gadolinium.|HPO|N|
C5539857|Areas of high signal intensity in magnetic resonance imaging of the pericardium appearing around 10 minutes after injection of the intercellular contrast agent gadolinium.|HPO|N|
C5539858|Increased duration of myocardial T1 time without gadolinium contrast. T1 mapping consists of quantifying the T1 relaxation time of a tissue by using analytical expressions of image-based signal intensities. A fundamental principle of MR imaging is that the signal intensity of pixels is based on the relaxation of hydrogen nuclei protons in a static magnetic field. The T1 relaxation times between two tissues vary substantially. Edema, fat infiltration, and fibrosis also cause differences in T1 relaxivity.|HPO|N|
C5539859|Pronuclei formation is a critical process during fertilization. Normally, there are two pronuclei (2PN), including the paternal pronucleus and the maternal pronucleus, in the zygote after fertilization. It is generally accepted that multiple pronuclei (MPN) formation is due to the abnormal extrusion of the second polar body or to abnormal fertilization with multiple sperm. The MPN therefore can cause infertility and recurrent failure of IVF/ICSI.|HPO|N|
C5539860|Decreased renal tubular reabsorption of bicarbonate.|HPO|N|
C5539861|A congenital human papillomavirus (HPV) infection of the newborn. Congential HPV infection can manifest as condyloma cuminata in the newborn.|HPO|N|
C5539863|The presence of autoantibodies (immunoglobulins) in the serum that react against desmoglein-1, a dermal cell adhesion molecule.|HPO|N|
C5539864|The presence of autoantibodies (immunoglobulins) in the serum that react against desmoglein-3, a dermal cell adhesion molecule.|HPO|N|
C5539865|The presence of autoantibodies (immunoglobulins) in the serum that react against envoplakin, a cytoskeletal linker protein that links intermediate filaments to cellular junctions.|HPO|N|
C5539866|The presence of autoantibodies (immunoglobulins) in the serum that react against periplakin.|HPO|N|
C5539867|The presence of autoantibodies (immunoglobulins) in the serum that react against desmoplakin-1.|HPO|N|
C5539868|The presence of autoantibodies (immunoglobulins) in the serum that react against desmoplakin-II.|HPO|N|
C5539869|The presence of autoantibodies (immunoglobulins) in the serum that react against BP230.|HPO|N|
C5539870|The presence of autoantibodies (immunoglobulins) in the serum that react against laminin-332.|HPO|N|
C5539871|The presence of autoantibodies (immunoglobulins) in the serum that react against laminin-6.|HPO|N|
C5539872|The presence of autoantibodies (immunoglobulins) in the serum that react against laminin gamma-1.|HPO|N|
C5539873|The presence of autoantibodies (immunoglobulins) in the serum that react against a laminin. Laminins are major components of the basement membrane.|HPO|N|
C5539874|The presence of autoantibodies (immunoglobulins) in the serum that react against an integrin. Integrins are a family of cell adhesion molecules with 24 known integrin heterodimers. Integrins transduce mechanical and biochemical signals from fibrotic extracellular matrix into the cell, activate latent TGFbeta, and subsequently modulate fibroblast adhesion, migration, and growth.|HPO|N|
C5539875|The presence of autoantibodies (immunoglobulins) in the blood circulation that react against transglutaminase 6.|HPO|N|
C5539876|The presence of autoantibodies (immunoglobulins) in the serum that react against LAD-1, which is the soluble 120 kDa ectodomain of BP180.|HPO|N|
C5539877|The presence of autoantibodies (immunoglobulins) in the serum that react against LABD97, which is structurally identical to a portion of the extracellular domain of BPAg2. BPAg2, a 180 kDa bullous pemphigoid antigen, is a transmembrane protein important for basement membrane cohesion.|HPO|N|
C5539878|The presence of autoantibodies (immunoglobulins) in the serum that react against gliadin.|HPO|N|
C5539879|The presence of autoantibodies (immunoglobulins) in the serum that react against reticulin.|HPO|N|
C5539880|The presence of autoantibodies (immunoglobulins) in the serum that react against collagen type VII.|HPO|N|
C5539881|A perception that one's body is moving or swaying despite lack of motion of the body.|HPO|N|
C5539882|A perception of unsteadiness of dizziness that is not characterized bythe spinning sensation of classic vertigo, but rather by an oscillatory perception (rocking, bobbing, or swaying despite the fact that the subject is not moving).|HPO|N|
C5539884|Megaurater associated with obstruction or an adynamic ureteral segment in the ureterovesical junction.|HPO|N|
C5539885|A decreased proportion of circulating mucosal-associated invariant T (MAIT) cells relative to total T cell count.|HPO|N|
C5539887|Any abnormality of programmed cell death (apoptosis), which is defined as the orchestrated collapse of a cell characterized by membrane blebbing, cell shrinkage, condensation of chromatin, and fragmentation of DNA followed by rapid engulfment of the corpse by neighboring cells. Apoptosis is distinguished from death by necrosis by the absence of an associated inflammatory response.|HPO|N|
C5539888|A reduced amount of programmed cell death upon stimulation of the FAS receptor, which normally induces caspase-8 dependent apoptosis.|HPO|N|
C5539889|A type of proteinuria characterized by increased permeability of the glomerular capillary wall to macromolecules (particularly albumin), whereby protein excretion can reach 20 g/24 h and consists mainly of albumin.|HPO|N|
C5539890|A structural defect associated with abnormal development of the lung.|HPO|N|
C5539892|The presence of autoantibodies (immunoglobulins) in the serum that react against BP180.|HPO|N|
C5539893|Glomerular crescent refers hyperplastic lesions involving 10% or more of the circumference of Bowman's capsule. Crescents can be composed of a variable mixture of epithelial/leukocyte hypercellularity, fibrous matrix, and fibrin.|HPO|N|
C5539894|Abnormal structure of a vein located inside the kidney parenchyma.|HPO|N|
C5539895|Abnormal structure of the sperm axonemal structure which consists of a ring of nine microtubular doublets and a central pair of microtubules, giving the classical 9+2 microtubular arrangement. The axoneme contains a central pair of microtubules (C1 and C2) that are connected by a bridge-like structure forming the central pair complex (CPC). Each of the nine outer doublets is composed of type A and B microtubules and connected by radial spokes to the CPC.|HPO|N|
C5539896|The presence of autoantibodies in the blood circulation that react against histone H2A.|HPO|N|
C5541424|This encompasses a number of challenges, such as having trouble paying rent, living in overcrowded conditions, moving frequently, living with friends or relatives out of necessity, being unhoused, or spending the bulk of household income (>50%) on housing. (https://www.healthypeople.gov/2020/topics-objectives/topic/social-determinants-health/interventions-resources/housing-instability)|MSH|N|
C5542154|Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome (VACRDS) is characterized by syncope, cardiac arrest, and/or sudden unexpected death. Polymorphic ventricular tachycardia and ventricular fibrillation have been documented in these patients. Symptoms generally occur with physical activity or emotional stress, but unlike typical catecholaminergic ventricular tachycardia (CPVT), arrhythmias are not reproducible on exercise stress testing or adrenaline challenge (Sun et al., 2021).
Mutation in the RYR2 gene also causes catecholaminergic polymorphic ventricular tachycardia-1 (CPVT1; 604772).|OMIM|N|
C5542181|Hypotaurinemic retinal degeneration and cardiomyopathy (HTRDC) is an autosomal recessive disorder characterized by low plasma taurine, childhood-onset progressive retinal degeneration, and cardiomyopathy (Ansar et al., 2020).|OMIM|N|
C5542183|An elevated amount of 8-oxo-7,8-dihydroguanosine in the urine.|HPO|N|
C5542197|ACTG2 visceral myopathy is a disorder of smooth muscle dysfunction of the bladder and gastrointestinal system with phenotypic spectrum that ranges from mild to severe. Bladder involvement can range from neonatal megacystis and megaureter (with its most extreme form of prune belly syndrome) at the more severe end, to recurrent urinary tract infections and bladder dysfunction at the milder end. Intestinal involvement can range from malrotation, neonatal manifestations of microcolon, megacystis microcolon intestinal hypoperistalsis syndrome, and chronic intestinal pseudoobstruction (CIPO) in neonates at the more severe end to intermittent abdominal distention and functional intestinal obstruction at the milder end. Affected infants (with or without evidence of intestinal malrotation) often present with feeding intolerance and findings of non-mechanical bowel obstruction that persist after successful surgical correction of malrotation. Individuals who develop manifestations of CIPO in later childhood or adulthood often experience episodic waxing and waning of bowel motility. They may undergo frequent abdominal surgeries (perhaps related to malrotation or adhesions causing mechanical obstruction) resulting in resection of dilated segments of bowel, often becoming dependent on total parenteral nutrition (TPN).|GeneReviews|N|
C5542277|Odontochondrodysplasia-1 (ODCD1) is characterized by mesomelic shortening of tubular bones, ligamentous laxity, and scoliosis, in association with dentinogenesis imperfecta involving both primary and secondary dentition. Affected individuals show variable severity. Radiologic features include trident pelvis, posteriorly flattened vertebrae, and brachydactyly with cone-shaped epiphyses (Maroteaux et al., 1996). Clinical variability and extraskeletal manifestations have been observed (Wehrle et al., 2019).
Genetic Heterogeneity of Odontochondrodysplasia
Odontochondrodysplasia-2 with hearing loss and diabetes (ODCD2; 619269) is caused by mutation in the TANGO1 gene (MIA3; 613455) on chromosome 1q41.|OMIM|N|
C5542296|WHIM syndrome-1 (WHIMS1) is an autosomal dominant immunologic disorder characterized by neutropenia, hypogammaglobulinemia, and warts due to human papillomavirus (HPV) infection. Despite the peripheral neutropenia, bone marrow aspirates from affected individuals contain abundant mature myeloid cells, a condition termed myelokathexis. The susceptibility to HPV is disproportionate compared with other immunodeficiency conditions (summary by Hernandez et al., 2003).
Heusinkveld et al. (2019) provided a detailed review of the clinical features, proposed pathogenesis, and possible therapeutic treatments of WHIM syndrome. There is significant phenotypic variation among patients, such that some individuals may have an 'incomplete' form of the disorder in which one or more of the classic tetrad features are not present. In general, the WHIMS phenotype comprises a spectrum of manifestations with variable expressivity. The pathogenesis of WHIMS1 is postulated to result from impaired CXCL12 (600835)-induced internalization of CXCR4, resulting in prolonged receptor presence at the cell surface that likely contributes to amplification of signaling with a gain-of-function effect.
Genetic Heterogeneity of WHIM Syndrome
See also WHIMS2 (619407), caused by mutation in the CXCR2 gene (146928) on chromosome 2q35.|OMIM|N|
C5542298|RAB18 deficiency is the molecular deficit underlying both Warburg micro syndrome (characterized by eye, nervous system, and endocrine abnormalities) and Martsolf syndrome (characterized by similar – but milder – findings). To date Warburg micro syndrome comprises >96% of reported individuals with genetically defined RAB18 deficiency. The hallmark ophthalmologic findings are bilateral congenital cataracts, usually accompanied by microphthalmia, microcornea (diameter <10), and small atonic pupils. Poor vision despite early cataract surgery likely results from progressive optic atrophy and cortical visual impairment. Individuals with Warburg micro syndrome have severe to profound intellectual disability (ID); those with Martsolf syndrome have mild to moderate ID. Some individuals with RAB18 deficiency also have epilepsy. In Warburg micro syndrome, a progressive ascending spastic paraplegia typically begins with spastic diplegia and contractures during the first year, followed by upper-limb involvement leading to spastic quadriplegia after about age five years, often eventually causing breathing difficulties. In Martsolf syndrome infantile hypotonia is followed primarily by slowly progressive lower-limb spasticity. Hypogonadism – when present – manifests in both syndromes, in males as micropenis and/or cryptorchidism and in females as hypoplastic labia minora, clitoral hypoplasia, and small introitus.|GeneReviews|N|
C5542316|Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) is a severe disorder affecting the muscles that line the bladder and intestines. It is characterized by impairment of the muscle contractions that move food through the digestive tract (peristalsis) and empty the bladder.\n\nSome of the major features of MMIHS can be recognized before birth using ultrasound imaging. Affected fetuses have an enlarged bladder (megacystis) because it does not empty. In addition, the large intestine (colon) is abnormally narrow (microcolon) because of a shortage of functional muscle lining it. Intestinal and bladder problems persist throughout life.\n\nAfter birth, the continued impairment of peristalsis (hypoperistalsis) often causes a digestive condition called intestinal pseudo-obstruction. This condition, which mimics a physical blockage (obstruction) of the intestines but without an actual blockage, leads to a buildup of partially digested food in the intestines. This buildup can cause abdominal swelling (distention) and pain, nausea, and vomiting. The vomit usually contains a green or yellow digestive fluid called bile. Because digestion is impeded and the body does not get the nutrients from food, nutritional support is usually needed, which is given through intravenous feedings (parenteral nutrition). While some affected individuals rely solely on intravenous feedings, others require it only on occasion. Long-term use of parenteral nutrition can lead to liver problems.\n\nThe reduced ability to pass urine also contributes to painful distention of the abdomen. Many people with MMIHS require placement of a tube (urinary catheter) to remove urine from the bladder.\n\nAnother abnormality in some people with MMIHS is intestinal malrotation, in which the intestines do not fold properly. Instead, they twist abnormally, often causing a blockage. Individuals with MMIHS can also develop problems with the kidneys or the ureters, which are the ducts that carry urine from the kidneys to the bladder.\n\nThe life expectancy of people with MMIHS is shorter than normal, often due to malnutrition, overwhelming infection (sepsis), or the failure of multiple organs.|MedlinePlus Genetics|N|
C5542341|X-linked multiple congenital anomalies-neurodevelopmental syndrome (MCAND) is an X-linked recessive congenital multisystemic disorder characterized by poor growth, global developmental delay with impaired intellectual development, and variable abnormalities of the cardiac, skeletal, and genitourinary systems. Most affected individuals also have hypotonia and dysmorphic craniofacial features. Brain imaging typically shows enlarged ventricles and thin corpus callosum; some have microcephaly, whereas others have hydrocephalus. The severity of the disorder is highly variable, ranging from death in early infancy to survival into the second or third decade. Pathogenetically, the disorder results from disrupted gene expression and signaling during embryogenesis, thus affecting multiple systems (summary by Tripolszki et al., 2021 and Beck et al., 2021). Beck et al. (2021) referred to the disorder as LINKED syndrome (LINKage-specific deubiquitylation deficiency-induced Embryonic Defects).|OMIM|N|
C5542345|Developmental and epileptic encephalopathy-90 (DEE90) is an X-linked neurologic disorder characterized by onset of refractory seizures in the first days or months of life. Although most patients have focal seizures associated with oromotor automatisms and apnea, various seizure types may occur, including epileptic spasms, generalized tonic-clonic, and absence. EEG shows multifocal discharges; hypsarrhythmia, intermittent burst suppression, and slow spike-wave background resembling Lennox-Gastaut syndrome may also be observed. Affected individuals have global developmental delay with variable severity, but it is usually profound or severe. Some are unable to walk or speak, whereas others may achieve some milestones and show autistic features (summary by Fry et al., 2021).
For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350.|OMIM|N|
C5542347|X-linked spermatogenic failure-3 (SPGFX3) is characterized by male infertility due to multiple morphologic abnormalities of the flagella (MMAF).
For a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).|OMIM|N|
C5542351|Obstructive azoospermia with nephrolithiasis (OAZON) is characterized by male infertility due to obstruction at the head of the epididymis, as well as hypercalciuria and kidney stones (Askari et al., 2019).|OMIM|N|
C5542355|Abnormal increase in diameter (expansion) of the vas deferens.|HPO|N|
C5542604|Familial hypercholanemia-1 (FHCA1) is an autosomal recessive disorder characterized by elevated concentrations of bile acids (usually conjugated), itching, and fat malabsorption, leading to poor overall growth and deficiencies of fat-soluble vitamins. Vitamin D deficiency results in rickets, and vitamin K deficiency results in a coagulopathy (Morton et al., 2000; Shneider et al., 1997; summary by Carlton et al., 2003).
See also bile acid conjugation defect-1 (BACD1; 619232), which can also show increased bile acid levels, although the bile acids in BACD1 are unconjugated.
Genetic Heterogeneity of FHCA
See FHCA2 (619256), caused by mutation in the SLC10A1 gene (182396) on chromosome 14q24.|OMIM|N|
C5542829|Olmsted syndrome-1 (OLMS1) is a rare congenital disorder characterized by bilateral mutilating palmoplantar keratoderma (PPK) and periorificial keratotic plaques with severe pruritus of lesions. Diffuse alopecia, constriction of digits, and onychodystrophy have also been reported. Infections and squamous cell carcinomas can arise on the keratotic areas (summary by Lin et al., 2012). The digital constriction ('pseudoainhum') may progress to autoamputation of fingers and toes (Olmsted, 1927).
Genetic Heterogeneity of Olmsted Syndrome
Olmsted syndrome-2 (OLMS2; 619208) is caused by mutation in the PERP gene (609301) on chromosome 6q23.
An X-linked form of Olmsted syndrome (OLMSX; 300918) is caused by mutation in the MBTPS2 gene (300294) on chromosome Xp22.|OMIM|N|
C5542996|Infantile-onset progressive leukoencephalopathy with or without deafness (LEPID) is an autosomal recessive complex neurodegenerative disorder with onset of symptoms in infancy or early childhood. Most patients present with sensorineural deafness or hypoacousia and global developmental delay. Affected individuals show episodic regression with progressive motor deterioration resulting in spastic tetraplegia and loss of ambulation, as well as impaired intellectual development with poor or absent speech. Additional more variable features may include poor overall growth with microcephaly, seizures, visual loss, microcytic anemia, and hepatic enlargement or abnormal liver enzymes. Brain imaging shows deep white matter abnormalities consistent with a progressive leukoencephalopathy. The brain and spinal cord are usually both involved; calcifications of these regions are often observed. Laboratory studies show increased serum lactate and deficiencies of mitochondrial respiratory chain complexes, consistent with global mitochondrial dysfunction. Early death often occurs (summary by Itoh et al., 2019).|OMIM|N|
C5543004|Immunodeficiency-76 (IMD76) is an autosomal recessive primary immunologic disorder characterized by onset of recurrent bacterial, viral, and fungal infections in early childhood. Laboratory studies show T-cell lymphopenia and may show variable B-cell or immunoglobulin abnormalities. More variable features found in some patients include lymphoma and neurologic features. Although bone marrow transplantation may be curative, many patients die in childhood (summary by Lyszkiewicz et al., 2020).|OMIM|N|
C5543020|Childhood-onset neurodegeneration with hypotonia, respiratory insufficiency, and brain imaging abnormalities (CONRIBA) is characterized by severe global developmental delay apparent in infancy or early childhood. Affected individuals have hypotonia with impaired motor development, respiratory insufficiency, and feeding difficulties requiring intervention. Intellectual and speech development is also delayed, and most have visual defects, including cortical visual blindness, nystagmus, and esotropia. The disorder is progressive, as manifest by developmental regression consistent with neurodegeneration. Although overt seizures are not observed, some patients may have episodic hypertonia or apnea, and EEG may show nonspecific abnormalities. Brain imaging shows unique diffusion restriction signal abnormalities affecting the brainstem, cerebellum, and corticospinal tracts. Early death may occur (summary by Polovitskaya et al., 2020).|OMIM|N|
C5543033|Spermatogenic failure-51 (SPGF51) is characterized by male infertility due to severe asthenoteratozoospermia. Patients exhibit multiple morphologic abnormalities of the flagella (MMAF), including absent, short, bent, coiled, and irregular-caliber tails, resulting in severely reduced to absent motility. Abnormalities of the sperm head, base, and acrosome have also been observed (Martinez et al., 2020).
For a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).|OMIM|N|
C5543038|Myofibrillar myopathy-11 (MFM11) is an autosomal recessive skeletal muscle disorder characterized by onset of slowly progressive proximal muscle weakness in the first decade of life. Some patients may present at birth with hypotonia and feeding difficulties, whereas others present later in mid-childhood. Although most patients show delayed walking at 2 to 3 years, all remain ambulatory into adulthood. More variable features may include decreased respiratory forced vital capacity, variable cardiac features, and calf hypertrophy. Skeletal muscle biopsy shows myopathic changes with variation in fiber size, type 1 fiber predominance, centralized nuclei, eccentrically placed core-like lesions, and distortion of the myofibrillary pattern with Z-line streaming and abnormal myofibrillar aggregates or inclusions (summary by Donkervoort et al., 2020).
For a phenotypic description and a discussion of genetic heterogeneity of myofibrillar myopathy, see MFM1 (601419).|OMIM|N|
C5543048|Autosomal dominant primary microcephaly-26 (MCPH26) is characterized by progressive microcephaly beginning at birth and associated with global developmental delay with variably impaired intellectual development. Some patients may have only mild learning difficulties or speech delay, whereas other are more severely affected with the inability to walk or speak. Additional features may include short stature, spasticity, feeding difficulties requiring tube feeding, and nonspecific dysmorphic facial features. Brain imaging in some patients shows a simplified gyral pattern or dysgenesis of the corpus callosum, suggesting abnormal neuronal migration (summary by Cristofoli et al., 2020).
For a general phenotypic description and a discussion of genetic heterogeneity of primary microcephaly, see MCPH1 (251200).|OMIM|N|
C5543051|Autosomal dominant primary microcephaly-27 (MCPH27) is characterized by small head circumference apparent in early childhood and associated with global developmental delay manifest as delayed walking, inability to walk, impaired intellectual development, and poor or absent speech. Most patients have variable and nonspecific additional features, including facial dysmorphism, hypotonia, limb hypertonia, poor feeding, and distal skeletal anomalies. Brain imaging may show enlarged ventricles or gyral abnormalities, but most have normal imaging (Parry et al., 2021).
For a general phenotypic description and a discussion of genetic heterogeneity of primary microcephaly, see MCPH1 (251200).|OMIM|N|
C5543053|Proteasome-associated autoinflammatory syndrome-4 (PRAAS4) is an autosomal recessive immunologic disorder characterized by onset of panniculitis and erythematous skin lesions in early infancy. Additional features include hepatosplenomegaly, lymphadenopathy, fever, generalized lipodystrophy, myositis, and joint contractures, as well as delayed motor and speech development. Autoimmune features, such as hemolytic anemia, may also occur. Laboratory studies show elevation of acute phase reactants and abnormal activation of the type I interferon response. Treatment with the JAK (see 147795) inhibitor ruxolitinib may result in clinical improvement (summary by de Jesus et al., 2019).
For a discussion of genetic heterogeneity of PRAAS, see PRAAS1 (256040).|OMIM|N|
C5543057|Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies-2 (SSFSC2) is characterized by thin and short long bones, distinctive facial dysmorphism, and dental and skeletal abnormalities, in the absence of developmental delay or intellectual disability. Cardiac anomalies have been reported in some patients (Lin et al., 2021).
For a discussion of genetic heterogeneity of SSFSC, see SSFSC1 (617877).|OMIM|N|
C5543064|Joubert syndrome-37 (JBTS37) is an autosomal recessive neurodevelopmental ciliopathy characterized classically by a distinctive hindbrain malformation affecting the midbrain and cerebellum, recognizable as the 'molar tooth sign' on brain imaging. Affected individuals have hypotonia, ataxia, and variably impaired intellectual development. Additional variable features, such as postaxial polydactyly, liver or kidney anomalies, retinal dystrophy, and coloboma, may also occur. In severe cases, affected fetuses with these malformations may be terminated (summary by Latour et al., 2020).
For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see JBTS1 (213300).|OMIM|N|
C5543067|Autosomal dominant intellectual developmental disorder-64 (MRD64) is characterized by mildly to severely impaired intellectual development (ID) with speech delays. Most patients also have autism spectrum disorder (ASD). Additional features are highly variable but may include motor delay, attention deficit-hyperactivity disorder (ADHD), and nonspecific dysmorphic features (summary by Mirzaa et al., 2020).|OMIM|N|
C5543068|Li-Campeau syndrome (LICAS) is an autosomal recessive syndromic neurodevelopmental disorder characterized by global developmental delay with impaired intellectual development, dysmorphic facial features, hypothyroidism, and variable abnormalities of the cardiac and genital systems. Additional features may include seizures, short stature, hypotonia, and brain imaging anomalies, such as cortical atrophy (summary by Li et al., 2021).|OMIM|N|
C5543069|Progressive myoclonic epilepsy-12 (EPM12) is an autosomal recessive neurologic disorder characterized by onset of tonic-clonic seizures and/or myoclonus in the second decade of life. Affected individuals develop cerebellar ataxia associated with progressive cerebral and cerebellar atrophy on brain imaging. Most patients lose ambulation and become wheelchair-bound. Additional more variable features include mild cognitive dysfunction or psychiatric manifestations, such as depression or anxiety (summary by Mazzola et al., 2021).
For a discussion of genetic heterogeneity of progressive myoclonic epilepsy, see EPM1A (254800).|OMIM|N|
C5543070|Neurofacioskeletal syndrome with or without renal agenesis (NFSRA) is characterized by developmental delay and/or intellectual disability; corpus callosum hypoplasia or agenesis; facial dysmorphism, including upslanting palpebral fissures, broad nasal tip, and wide mouth; and skeletal abnormalities, including short stature, scoliosis, and flexion contractures, with broad fingertips and/or toes. Renal agenesis, unilateral or bilateral, has also been observed in some patients (Schneeberger et al., 2020).|OMIM|N|
C5543087|Congenital deafness and adult-onset progressive leukoencephalopathy (DEAPLE) is an autosomal recessive complex neurodegenerative disorder characterized by congenital neurosensory deafness followed by onset of neurodegenerative symptoms, including pyramidal signs and cognitive decline, in young adulthood. Some patients may have mild developmental delay or learning difficulties in childhood, but most can function independently. The onset of motor and cognitive decline in adulthood can be rapid and may result in early death. Brain imaging shows diffuse white matter abnormalities affecting various brain regions, consistent with a progressive leukoencephalopathy. More variable additional features may include visual impairment and axonal peripheral neuropathy (summary by Scheidecker et al., 2019).|OMIM|N|
C5543091|A rare constitutional hemolytic anemia characterized by a low 6-phosphogluconate dehydrogenase activity in the erythrocytes, which clinically manifests with a well-compensated chronic nonspherocytic hemolytic anemia and transient hemolytic periods with jaundice.|ORDO|N|
C5543092|Nephrotic syndrome type 23 (NPHS23) is an autosomal recessive renal disorder characterized by the onset of proteinuria in the first or second decade of life. The outcome is variable: some patients have normal renal function after many years, whereas others may progress to chronic kidney disease. Renal biopsy shows mesangial hypercellularity, consistent with minimal change disease, focal segmental glomerulosclerosis, and effacement of podocyte foot processes (summary by Solanki et al., 2019).
For a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome and FSGS, see NPHS1 (256300).|OMIM|N|
C5543094|Spermatogenic failure-52 (SPGF52) is characterized by azoospermic infertility resulting from meiotic arrest at the spermatocyte stage (Fan et al., 2021).
For a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).|OMIM|N|
C5543095|Premature ovarian failure-18 (POF18) is characterized by irregular menstrual cycles and cessation of menstruation in the third decade of life. The uterus is small; ovaries may be small or rudimentary, and do not show follicular activity (Fan et al., 2021).
For a general phenotypic description and discussion of genetic heterogeneity of premature ovarian failure, see POF1 (311360).|OMIM|N|
C5543096|Olmsted syndrome-2 (OLMS2) is characterized by mutilating hyperkeratotic skin lesions, primarily on the palms and soles, but also extending onto dorsal surfaces of the hands and feet and distal extremities. The lesions are progressive, becoming thicker with verrucous fissures on the palms and soles over time. In addition, affected individuals exhibit perioral hyperkeratosis, and may have lesions around other orifices as well, such as the nostrils, perineum, and anus. Most patients also have hyperkeratotic nails and light-colored woolly hair (Duchatelet et al., 2019). Some patients may experience flexion contractures of the digits due to the severity of the keratoderma, and intractable pruritus and alopecia universalis have been observed (Dai et al., 2020).
For a general phenotypic description and discussion of genetic heterogeneity of Olmsted disease, see OLMS1 (614594).|OMIM|N|
C5543106|Erythrokeratodermia variabilis et progressiva-7 (EKVP7) is characterized by palmoplantar keratoderma that extends to the dorsal surface of the hands and feet (transgrediens), as well as erythematous annular skin lesions. Pruritis, woolly hair, and dystrophic nails may also be present (Duchatelet et al., 2019; Patel et al., 2020).
For a general phenotypic description and discussion of genetic heterogeneity of EKVP, see EKVP1 (133200).|OMIM|N|
C5543116|Oculomotor-abducens synkinesis (OCABSN) is an autosomal recessive disorder characterized by a specific anomaly of extraocular muscle movements involving the oculomotor nerve (cranial nerve III) and the abducens nerve (cranial nerve VI). The superior branch of CN3 innervates the levator palpebrae superioris muscle, which raises the eyelid, and CN6 innervates the lateral rectus muscle, which controls lateral eye movement. Affected individuals show ptosis as well as elevation of the eyelid on ipsilateral abduction. The features indicate abnormal innervation of these muscles and suggest synkinesis of the oculomotor and abducens nerves. The disorder can be classified as a congenital cranial dysinnervation disorder (CCDD), and also shows features of congenital fibrosis of the extraocular muscles (CFEOM; see 135700) (summary by Khan et al., 2004 and Whitman et al., 2019).
See also oculomotor-levator synkinesis (OCLEVS; 151610), a similar disorder.|OMIM|N|
C5543119|Autosomal recessive distal hereditary motor neuronopathy-7 (HMNR7) is characterized by onset of lower leg weakness in the first decade. Affected individuals have difficulty climbing stairs and problems standing on the heels. Some patients have later onset well into the adult years. Most patients have foot deformities, and some may have leg muscle atrophy. The disorder is slowly progressive and often involves the upper limbs. Muscle biopsy and electrophysiologic studies are consistent with both a myopathic process and an axonal motor neuropathy. Sensory abnormalities are not typically present, and patients remain ambulatory. The phenotype shows phenotypic overlap with distal hereditary motor neuropathy, but can distinguished by the presence of myopathic features (summary by Deschauer et al., 2021 and Pagnamenta et al., 2021).
For a discussion of genetic heterogeneity of autosomal recessive HMN, see HMNR1 (604320).|OMIM|N|
C5543128|Limb-only ENDOVE syndrome (ENDOVESL) is characterized by marked mesomelic shortening and deformation of the lower limbs due to severe hypoplasia of the tibia and fibula. Patients also exhibit abnormalities of the digits of the hands and feet, with cutaneous and osseous syndactyly as well as dysplastic, missing, and/or volar nails. In addition, genitourinary anomalies have been observed (Allou et al., 2021).|OMIM|N|
C5543142|Limb-brain ENDOVE syndrome (ENDOVESLB) is characterized by marked mesomelic shortening of the lower limbs due to severe hypoplasia of the tibia and fibula. The talus is absent and foot bones are rudimentary. Hands show short and malformed fingers with a missing digit, and nails are absent on some fingers. In addition, there is cerebellar aplasia with hypoplasia of the brainstem (Allou et al., 2021).|OMIM|N|
C5543159|Immunodeficiency-78 with autoimmunity and developmental delay (IMD78) is an autosomal recessive systemic disorder characterized by onset of symptoms in early childhood. Affected individuals present with features of immune deficiency, such as recurrent sinopulmonary or skin infections, as well as autoimmunity, including autoimmune cytopenias, hemolytic anemia, and thrombocytopenia. Autoimmune hepatitis or thyroid disease and central nervous system vasculitis with stroke may also occur. There is increased susceptibility to bacterial, viral, and fungal infections. Laboratory studies show lymphopenia with advanced differentiation and premature senescence of CD8+ T cells and B cells; some patients may have hypergammaglobulinemia. The findings indicate immune dysregulation. Patients also have global developmental delay with speech delay and variable intellectual disability. Many patients die prematurely, but successful hematopoietic bone marrow transplant may be curative (summary by Lu et al., 2014 and Atallah et al., 2021).|OMIM|N|
C5543168|Sulfide:quinone oxidoreductase-deficiency (SQORD) is characterized by a variable phenotype ranging from no clinical symptoms to episodes of encephalopathy and Leigh syndrome-like (see 256000) brain lesions, with acute symptoms triggered by infections and fasting. Other features may include lactic acidosis and decreased mitochondrial respiratory chain complex IV activity in tissues. Most affected individuals are asymptomatic. Patients with encephalopathy may recover or die in childhood (Friederich et al., 2020).|OMIM|N|
C5543173|Immunodeficiency-77 (IMD77) is an immunologic disorder characterized by recurrent and persistent polymicrobial infections with multiple unusual organisms. Skin and pulmonary infections are the most common, consistent with increased susceptibility to epithelial cell infections. The age at onset is highly variable: some patients have recurrent infections from childhood, whereas others present in late adulthood. The limited number of reported patients are all female, suggesting incomplete penetrance or a possible sex-influenced trait. Patient cells, mainly macrophages, show impaired killing of intracellular bacteria and organisms, including nontubercular mycobacteria, although there is also impaired killing of other organisms, such as Pseudomonas, Candida, and Aspergillus. Treatment with gamma-IFN (IFNG; 147570) may be a therapeutic option (summary by McCormack et al., 2017 and Merselis et al., 2020).|OMIM|N|
C5543176|Mitochondrial complex II deficiency nuclear type 4 (MC2DN4) is a severe autosomal recessive disorder characterized by early-onset progressive neurodegeneration with leukoencephalopathy. Acute episodes of neurodegeneration are often triggered by catabolic stress such as infection or fasting.|OMIM|N|
C5543184|ABOLM is characterized by suprabasal acantholytic blisters limited to the oral and laryngeal mucosa (Kim et al., 2019).|OMIM|N|
C5543189|VCTERL syndrome is characterized by anomalies of the vertebrae, heart, trachea, esophagus, kidneys, and limbs. Some patients also exhibit craniofacial abnormalities. Incomplete penetrance and markedly variable disease expression have been observed, including intrafamilial variability (Martin et al., 2020).|OMIM|N|
C5543197|Developmental delay with dysmorphic facies and dental anomalies (DEFDA) is characterized by generally mild global developmental delay with variably impaired intellectual development, walking by 2 to 3 years, and slow language acquisition. The severity of the disorder ranges from moderate cognitive deficits to mild learning difficulties or behavioral abnormalities. Most patients have dysmorphic facial features, often with abnormal dentition and nonspecific visual defects, such as myopia, astigmatism, and strabismus. Although rare, involvement of other systems, such as skeletal, cardiac, and gastrointestinal, may be present (summary by den Hoed et al., 2021).|OMIM|N|
C5543202|Den Hoed-de Boer-Voisin syndrome (DHDBV) is characterized by global developmental delay with moderately to severely impaired intellectual development, poor or absent speech, and delayed motor skills. Although the severity of the disorder varies, many patients are nonverbal and have hypotonia with inability to sit or walk. Early-onset epilepsy is common and may be refractory to treatment, leading to epileptic encephalopathy and further interruption of developmental progress. Most patients have feeding difficulties with poor overall growth and dysmorphic facial features, as well as significant dental anomalies resembling amelogenesis imperfecta. The phenotype is reminiscent of Kohlschutter-Tonz syndrome (KTZS; 226750). More variable features of DHDBV include visual defects, behavioral abnormalities, and nonspecific involvement of other organ systems (summary by den Hoed et al., 2021).|OMIM|N|
C5543203|Bile acid conjugation defect-1 (BACD1) is an autosomal recessive metabolic disorder characterized by onset of symptoms, including jaundice and failure to thrive, in early infancy. The clinical features of the disorder result from impaired absorption of fat-soluble vitamins. Vitamin D deficiency causes rickets with variable growth deficiency, and vitamin K deficiency causes a coagulopathy with decreased production of vitamin K-dependent clotting factors. More variable features may include pruritis, anemia, hepatomegaly, and bile duct proliferation on liver biopsy. Laboratory studies show abnormally increased levels of unconjugated bile acids (summary by Setchell et al., 2013).
See also familial hypercholanemia (FHCA; 607748), in which patients have increased serum bile levels of conjugated bile acids.|OMIM|N|
C5543206|SOFM is characterized by marked short stature, oligodontia, mild facial dysmorphism, and motor delay. Endosteal hyperostosis has also been observed, and patients may exhibit some features of progeria (Terhal et al., 2020; Beauregard-Lacroix et al., 2020).|OMIM|N|
C5543220|Immunodeficiency-79 (IMD79) is an autosomal recessive disorder characterized by childhood onset of recurrent and recalcitrant skin warts due to uncontrolled viral infection with human papillomavirus (HPV). Some patients may also have recurrent respiratory infections beginning in childhood, but the phenotype overall is mild compared to other primary immunodeficiencies. Patients may not come to attention until adulthood. Laboratory studies show absence of the CD4 antigen on T cells, monocytes, and dendritic cells, with variable secondary abnormalities in B cells and NK cells due to lack of CD4+ T cells (summary by Lisco et al., 2021).|OMIM|N|
C5543225|CUL3-related neurodevelopmental disorder is a condition that affects neurological and physical development. Children with CUL3-related neurodevelopmental disorder may have intellectual disability or specific learning disorders. They may also experience delayed development of speech and motor skills, such as sitting and walking. Some individuals with this condition may have autism spectrum disorder, a developmental condition that affects communication and social skills. \n\nMovement abnormalities can also occur in people with CUL3-related neurodevelopmental disorder. Affected individuals may have weak muscle tone (hypotonia) in childhood. In adulthood, they may develop involuntary muscle tensing (dystonia), rhythmic shaking (tremor), or other uncontrolled movements (spasms). \n\nPeople with CUL3-related neurodevelopmental disorder can have distinctive facial features, including a long, triangular-shaped face; a large forehead; a large, rounded nose; small ears; deep-set eyes; or a pointed chin. Some affected individuals  have a larger than normal head (macrocephaly). \n\nMany people with CUL3-related neurodevelopmental disorder have hand and foot abnormalities. Hand abnormalities can include small pinky (fifth) fingers that curve inward (clinodactyly), narrow thumbs, underdevelopment of the muscle at the base of the thumb (thenar hypoplasia), or a single crease across the palm of the hand. Foot abnormalities can include high arches of the feet (pes cavus); bunions; fusion of the skin between some toes (cutaneous syndactyly); or joint deformities (contractures) in the ankles, feet, or toes. A few individuals with CUL3-related neurodevelopmental disorder have an abnormally curved lower back (lordosis) or a spine that curves to the side (scoliosis). \n\nSome affected infants have a backflow of stomach acids into the esophagus (gastroesophageal reflux disease or GERD), which tends to go away after childhood. Rarely, recurrent seizures (epilepsy), congenital heart abnormalities, or genitourinary abnormalities occur in people with CUL3-related neurodevelopmental disorder. |MedlinePlus Genetics|N|
C5543226|Global developmental delay with speech and behavioral abnormalities (GDSBA) is characterized by developmental delay apparent from infancy or early childhood. Affected individuals have mildly delayed fine and motor skills with walking by 3 years of age, mildly impaired intellectual development, speech and language delay, and variable behavioral abnormalities, mostly autism and ADHD. Some patients may have additional nonspecific features, such as facial dysmorphism, myopia or strabismus, and skeletal defects, including joint hypermobility, pes planus, or slender fingers (summary by Granadillo et al., 2020).|OMIM|N|
C5543228|Neurodevelopmental disorder with cerebral atrophy and facial dysmorphism (NEDCAFD) is an autosomal recessive disorder characterized by global developmental delay apparent from birth. Affected individuals have hypotonia with inability to walk and severely impaired intellectual development with absent language. Most patients have variable dysmorphic facial features including prominent eyes, protruding and low-set ears, and thin upper lip. Brain imaging shows cerebral atrophy, corpus callosum hypoplasia, and a simplified gyral pattern (summary by Rasheed et al., 2021).|OMIM|N|
C5543229|Premature ovarian failure-19 (POF19) is characterized by irregular menses that cease in the third decade of life, associated with infertility (Felipe-Medina et al., 2020).
For a general phenotypic description and discussion of genetic heterogeneity of premature ovarian failure, see POF1 (311360).|OMIM|N|
C5543241|Baralle-Macken syndrome (BARMACS) is an autosomal recessive disorder characterized by global developmental delay apparent from infancy, difficulty walking or inability to walk, and impaired intellectual development with poor or absent speech. Affected individuals develop early-onset cataracts; some may have microcephaly. Additional more variable features may include dysmorphic facial features, metabolic abnormalities, spasticity, and lymphopenia (summary by Macken et al., 2021).|OMIM|N|
C5543243|Familial hypercholanemia-2 (FHCA2) is an autosomal recessive inborn error of metabolism characterized by persistently increased plasma levels of conjugated bile salts apparent from infancy. Most patients are asymptomatic and have no liver dysfunction, although some neonates may have transient jaundice or transiently elevated liver enzymes. These abnormalities improve with age. The bile acid defect can result in impaired absorption of fat-soluble vitamins, including D and K, causing decreased bone mineral density or prolonged prothrobin time (PT) (summary by Deng et al., 2016 and Liu et al., 2017).
For a discussion of genetic heterogeneity of FHCA, see FHCA1 (607748).|OMIM|N|
C5543253|Spermatogenic failure-53 (SPGF53) is characterized by oocyte fertilization failure due to lack of oocyte activation, associated with ultrastructural abnormalities of the sperm head (Dai et al., 2021).
For a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).|OMIM|N|
C5543254|Neurodegeneration with ataxia and late-onset optic atrophy (NDAXOA) is an autosomal dominant disorder with somewhat variable manifestations. Most affected individuals present in mid-adulthood with slowly progressive cerebellar and gait ataxia, optic atrophy, and myopathy or myalgia. Some patients may have a childhood history of neurologic features, including limited extraocular movements. Additional features can include cardiomyopathy, psychiatric disturbances, and peripheral sensory impairment (summary by Taylor et al., 1996 and Courage et al., 2017).|OMIM|N|
C5543257|SHILCA is characterized by early-onset retinal degeneration in association with sensorineural hearing loss, short stature, vertebral anomalies, and epiphyseal dysplasia, as well as motor and intellectual delay. Delayed myelination, leukoencephalopathy, and hypoplasia of the corpus callosum and cerebellum have been observed on brain MRI (Bedoni et al., 2020).|OMIM|N|
C5543267|Nephrotic syndrome type 24 (NPHS24) is an autosomal recessive renal disorder characterized by onset of proteinuria and hypoalbuminemia in early childhood, although onset in the second decade has been reported. Additional features include edema and hyperlipidemia. The disorder is slowly progressive, and most patients eventually develop end-stage renal disease. Renal biopsy shows focal segmental glomerulosclerosis (FSGS) (summary by Schneider et al., 2020).
For a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome, see NPHS1 (256300).|OMIM|N|
C5543268|Neurodevelopmental disorder with dysmorphic facies and variable seizures (NEDDFAS) is an autosomal recessive disorder characterized by global developmental delay apparent in early childhood. Patients have mildly impaired intellectual development, often with speech delay or behavioral abnormalities. Some may have seizures. Most have nonspecific dysmorphic facial features. Additional findings may include brain imaging abnormalities, mild skeletal defects, and renal abnormalities, although the renal anomalies may be unrelated (summary by Shao et al., 2021).|OMIM|N|
C5543273|Glanzmann thrombasthenia-2 (GT2) is an autosomal recessive bleeding disorder characterized by failure of platelet aggregation and by absent or diminished clot retraction. The abnormalities are related to quantitative or qualitative abnormalities of the GPIIb (607759)/IIIa platelet surface fibrinogen receptor complex resulting from mutations in the GPIIIa gene (Rosenberg et al., 1997).
For a general phenotypic description and a discussion of genetic heterogeneity of Glanzmann thrombasthenia, see 273800.|OMIM|N|
C5543274|Alzahrani-Kuwahara syndrome (ALKUS) is an autosomal recessive neurodevelopmental syndrome characterized by global developmental delay with severely impaired intellectual function and poor or absent speech. Patients have poor overall growth and dysmorphic facial features. More variable findings include early-onset cataracts, hypotonia, congenital heart defects, lower limb spasticity, and hypospadias (summary by Alzahrani et al., 2020).|OMIM|N|
C5543275|Odontochondrodysplasia-2 with hearing loss and diabetes (ODCD2) is characterized by growth retardation with proportionate short stature, dentinogenesis imperfecta, sensorineural hearing loss, insulin-dependent diabetes, and mild intellectual disability (Cauwels et al., 2005; Lekszas et al., 2020).
For a discussion of genetic heterogeneity of ODCD, see ODCD1 (184260).|OMIM|N|
C5543280|Platelet-type bleeding disorder-24 (BDPLT24) is an autosomal dominant form of congenital macrothrombocytopenia associated with platelet anisocytosis. It is a disorder of platelet production. Affected individuals may have no or only mildly increased bleeding tendency. In vitro studies show mild platelet functional abnormalities (summary by Kunishima et al., 2011 and Nurden et al., 2011).
For a discussion of genetic heterogeneity of Glanzmann thrombasthenia-like with macrothrombocytopenia, see 187800.|OMIM|N|
C5543287|CIMDAG syndrome (CIMDAG) is a multisystemic disorder characterized by severely impaired psychomotor development and hematologic abnormalities apparent from early infancy. Affected individuals show poor overall growth with microcephaly, impaired intellectual development, poor or absent speech, poor eye contact, and motor problems, such as inability to walk, hypotonia, and spasticity. Brain imaging typically shows cerebral and cerebellar atrophy, thin corpus callosum, and delayed myelination. The associated hematologic abnormalities are variable, but are mostly consistent with congenital dyserythropoietic anemia (CDA) (summary by Rodger et al., 2020 and Seu et al., 2020).|OMIM|N|
C5543289|DFNA80 is characterized by nonsyndromic congenital deafness associated with absent or malformed cochleae and eighth cranial nerves (Schrauwen et al., 2018; Schrauwen et al., 2020).|OMIM|N|
C5543294|MEDS2 is characterized by severe microcephaly and neonatal/early-onset epilepsy and diabetes (De Franco et al., 2020).
For a discussion of genetic heterogeneity of microcephaly, epilepsy, and diabetes syndrome, see MEDS1 (614231).|OMIM|N|
C5543299|Parkinsonism with polyneuropathy (PKNPY) is an autosomal dominant disorder characterized by asymmetrical tremor-dependent parkinsonism. The age of onset ranges from the late forties to mid-sixties, and patients have a good response to levodopa (summary by Lin et al., 2020).|OMIM|N|
C5543301|Autosomal recessive primary immunodeficiency-14B (IMD14B) is characterized by onset of recurrent infections in early childhood. Most patients have respiratory infections, but some may develop inflammatory bowel disease or osteomyelitis. Laboratory studies tend to show hypogammaglobulinemia and decreased levels of B cells. Although NK cell and T cell numbers are normal, there may be evidence of impaired immune-mediated cytotoxicity and defective T-cell function (summary by et al., 2018 and et al., 2019).|OMIM|N|
C5543306|Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia (NEDSCAC) is an autosomal recessive disorder characterized by global developmental delay with variably impaired intellectual development. More severely affected individuals are nonverbal and do not achieve independent ambulation, whereas others develop some speech and can walk, or show regression later in childhood. Common features include axial hypotonia, peripheral spasticity, dystonia, cataracts, and seizures. Brain imaging usually shows cerebellar hypoplasia with variable additional abnormalities, such as thin corpus callosum, cerebral atrophy, and hypomyelination (summary by Meng et al., 2021).|OMIM|N|
C5543312|Dystonia-30 (DYT30) is an autosomal dominant neurologic disorder characterized by the onset of symptoms in the first decades of life. Patients present with oromandibular, cervical, bulbar, or upper limb dystonia, and usually show slow progression to generalized dystonia. Some patients may lose ambulation. A subset of patients may also have neurocognitive impairment, including mild intellectual disability or psychiatric manifestations (summary by Steel et al., 2020).
In a review of the pathogenesis of disorders with prominent dystonia, Monfrini et al. (2021) classified DYT30 as belonging to a group of neurologic disorders termed 'HOPS-associated neurologic disorders' (HOPSANDs), which are caused by mutations in genes encoding various components of the autophagic/endolysosomal system, including VPS16.|OMIM|N|
C5543317|KINSSHIP syndrome (KINS) is an autosomal dominant disorder characterized by a recognizable pattern of anomalies including developmental delay, impaired intellectual development, seizures, mesomelic dysplasia, dysmorphic facial features, horseshoe or hypoplastic kidney, and failure to thrive (summary by Voisin et al., 2021).|OMIM|N|
C5543322|Pontocerebellar hypoplasia type 14 (PCH14) is a severe autosomal recessive neurodevelopmental disorder characterized by congenital onset of progressive microcephaly and poor or absent psychomotor development with severely impaired intellectual development apparent from birth. Other features may include hypotonia, spastic quadriplegia, and early-onset seizures. Brain imaging shows pontocerebellar hypoplasia, agenesis or partial agenesis of the corpus callosum, and sometimes a simplified gyral pattern. Early death may occur (summary by et al., 2021).
For a phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1A (607596).|OMIM|N|
C5543326|Pontocerebellar hypoplasia type 15 (PCH15) is a severe autosomal recessive neurodevelopmental disorder characterized by congenital onset of progressive microcephaly and poor or absent psychomotor development with severely impaired intellectual development apparent from birth. Other features may include spastic quadriplegia, early-onset seizures, and chronic anemia and thrombocytopenia. Brain imaging shows pontocerebellar hypoplasia and partial agenesis of the corpus callosum (summary by et al., 2021).
For a phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1A (607596).|OMIM|N|
C5543328|Pontocerebellar hypoplasia type 1E (PCH1E) is an autosomal recessive neurologic disorder characterized by severe hypotonia and respiratory insufficiency apparent soon after birth. Virtually all patients die in the first days or weeks of life. Postmortem examination and brain imaging show pontocerebellar atrophy and loss of anterior motor neurons in the spinal cord. Additional more variable features may include optic atrophy, peripheral neuropathy, dysmorphic features, congenital contracture or foot deformities, and seizures (summary by Braunisch et al., 2018).
For a phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1A (607596).|OMIM|N|
C5543331|Pontocerebellar hypoplasia type 1F (PCH1F) is an autosomal recessive neurologic disorder characterized by hypotonia, global developmental delay, poor overall growth, and dysmorphic facial features. Brain imaging shows pontocerebellar hypoplasia, thin corpus callosum, cerebral atrophy, and delayed myelination (summary by Somashekar et al., 2021).
For a phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1A (607596).|OMIM|N|
C5543332|Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia (NEDFACH) is an autosomal recessive disorder characterized by global developmental delay and intellectual disability. The phenotype is variable: more severely affected individuals have poor overall growth with microcephaly, delayed walking, spasticity, and poor or absent speech, whereas others may achieve more significant developmental milestones and even attend special schooling. Brain imaging shows abnormalities of the cerebellum, most commonly cerebellar hypoplasia, although other features, such as thin corpus callosum and delayed myelination, may also be present. Dysmorphic facial features include sloping forehead, upslanting palpebral fissures, and hypertelorism. Additional more variable manifestations may include cardiac ventricular septal defect, spasticity, cataracts, optic nerve hypoplasia, seizures, and joint contractures (summary by Van Bergen et al., 2020).|OMIM|N|
C5543334|Hypomyelinating leukodystrophy-21 (HLD21) is an autosomal recessive neurodegenerative disorder characterized by global developmental delay apparent from infancy with loss of motor, speech, and cognitive milestones in the first decades of life. Affected individuals show cerebellar and pyramidal signs, including nystagmus, ataxia, dystonia, and spasticity, resulting in the loss of ambulation. Other more variable features include feeding difficulties, poor overall growth with microcephaly, optic atrophy, and seizures. Brain imaging shows diffuse hypomyelination of the white matter and atrophy of the cerebellum and corpus callosum. The disorder is progressive and may lead to premature death (summary by Dorboz et al., 2018).
For a general phenotypic description and a discussion of genetic heterogeneity of HLD, see 312080.|OMIM|N|
C5543338|Hiatt-Neu-Cooper neurodevelopmental syndrome (HINCONS) is characterized by global developmental delay with delayed walking or inability to walk and impaired intellectual development with poor or absent speech. Affected individuals have axial hypotonia and dysmorphic facies. Additional more variable features may include seizures, autistic or behavioral abnormalities, and brain abnormalities, such as dysplastic corpus callosum or polymicrogyria (summary by Hiatt et al., 2018).|OMIM|N|
C5543339|Radio-Tartaglia syndrome (RATARS) is a neurodevelopmental disorder characterized by global developmental delay with impaired intellectual development, speech delay, and variable behavioral abnormalities. Affected individuals show hypotonia, mild motor difficulties, and craniofacial dysmorphism. Brain imaging may show nonspecific defects; rare patients have seizures or pyramidal signs. A subset of individuals may have congenital heart defects, precocious puberty, and obesity in females. Some of the features are similar to those observed in patients with chromosome 1p36 deletion syndrome (607872) (summary by Radio et al., 2021).|OMIM|N|
C5543344|Immunodeficiency-80 with or without congenital cardiomyopathy (IMD80) is an autosomal recessive immunologic disorder with variable manifestations. One patient with infantile-onset of chronic cytomegalovirus (CMV) infection associated with severely decreased NK cells has been reported. Another family with 3 affected fetuses showing restrictive cardiomyopathy and hypoplasia of the spleen and thymus has also been reported (summary by Baxley et al., 2021).|OMIM|N|
C5543351|Buratti-Harel syndrome (BURHAS) is a neurodevelopmental disorder characterized by infantile hypotonia, global developmental delay, mild motor and speech delay, and mild to moderately impaired intellectual development. Some patients are able to attend special schools and show learning difficulties, whereas others are more severely affected. Patients have prominent dysmorphic facial features, including hypertelorism, downslanting palpebral fissures, strabismus, and small low-set ears. Additional features may include laryngomalacia with feeding difficulties and distal skeletal anomalies (summary by Buratti et al., 2021).|OMIM|N|
C5543353|SCN1A seizure disorders encompass a spectrum that ranges from simple febrile seizures and generalized epilepsy with febrile seizures plus (GEFS+) at the mild end to Dravet syndrome and intractable childhood epilepsy with generalized tonic-clonic seizures (ICE-GTC) at the severe end. Phenotypes with intractable seizures including Dravet syndrome are often associated with cognitive decline. Less commonly observed phenotypes include myoclonic astatic epilepsy (MAE), Lennox-Gastaut syndrome, infantile spasms, epilepsy with focal seizures, and vaccine-related encephalopathy and seizures. The phenotype of SCN1A seizure disorders can vary even within the same family.|GeneReviews|N|
C5543355|Oculogastrointestinal neurodevelopmental syndrome (OGIN) is characterized by microphthalmia and/or coloboma in association with other congenital anomalies, including imperforate anus, horseshoe kidney, and structural cardiac defects. Hearing loss and severe developmental delay are also observed in most patients (Zha et al., 2020; Mor-Shaked et al., 2021).|OMIM|N|
C5543365|Lymphatic malformation-9 (LMPHM9) is an autosomal dominant disorder characterized by the onset of lower-extremity lymphedema in the first decades of life. Imaging may show lymph backflow and defects in lymph channel valves. There is variable expressivity and incomplete penetrance; female mutation carriers are more likely to show disease manifestations than male carriers (summary by Erickson et al., 2019).
For a discussion of genetic heterogeneity of lymphatic malformation, see 153100.|OMIM|N|
C5543367|The presence of an increased number of twists and turns of lymphatic vessels.|HPO|N|
C5543371|Autosomal dominant intellectual developmental disorder-65 (MRD65) is characterized by delayed motor and speech acquisition, variably impaired intellectual development, and behavioral abnormalities. Affected individuals also have dysmorphic facial features. Brain imaging may be normal or may show abnormalities, including cerebellar hypoplasia, poor development of the corpus callosum, dysmorphic hippocampus, and polymicrogyria. Feeding difficulties, hypotonia, and seizures may also be observed (Duncan et al., 2020).|OMIM|N|
C5543375|Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies (GKAF) is characterized by microcephaly, congenital alopecia, distinctive craniofacial features, severe congenital sensorineural hearing loss, global developmental delay, hydrocephalus, hypoplastic kidneys with renal insufficiency, genital hypoplasia, and early mortality (Ito et al., 2018).|OMIM|N|
C5543388|Marbach-Rustad progeroid syndrome (MARUPS) is characterized by progeroid appearance with little subcutaneous fat and triangular facies, growth retardation with short stature, hypoplastic mandible crowded with unerupted supernumerary teeth, and cerebellar intention tremor. Psychomotor development is normal. Although features are reminiscent of Hutchinson-Gilford progeria syndrome (HGPS; 176670), MARUPS is less severe, with a relatively good prognosis. Two patients have been reported (Marbach et al., 2019).|OMIM|N|
C5543395|Neurodevelopmental disorder with seizures and gingival overgrowth (NEDSGO) is an autosomal recessive disorder with a highly variable phenotype. Some patients have early normal development with developmental regression apparent in the first years of life, whereas others present with hypotonia or delayed development. Most patients develop significant gingival hypertrophy associated with a prominent mandible or cherubism in the first years of life. Other more variable features may include coarse facial features, optic atrophy, sensorineural hearing loss, ataxia, and seizures. Brain imaging may show cerebellar or cerebral atrophy and enlarged ventricles. There is a wide phenotypic spectrum with features that may develop with age; the disorder appears to comprise a continuum of evolving neurologic manifestations (Harms et al., 2020).|OMIM|N|
C5543398|Hypertriglyceridemia-2 (HYTG2) is characterized by moderately to severely elevated plasma triglyceride levels, increased total cholesterol levels, and low levels of high density lipoprotein (HDL) cholesterol. Reduced penetrance has been observed (Lee et al., 2011; Cefalu et al., 2015).|OMIM|N|
C5543403|BDV syndrome (BDVS) is an autosomal recessive disorder characterized by early-onset profound obesity, hyperphagia, and moderately impaired intellectual development accompanied by infantile hypotonia and other endocrine disorders including hypogonadotropic hypogonadism, hypothyroidism, and insulin resistance (summary by Bosch et al., 2021).|OMIM|N|
C5543406|Hypomyelinating leukodystrophy-22 (HLD22) is a neurologic disorder characterized by global developmental delay with mildly impaired intellectual development and marked motor impairment with limited or no ability to walk and dysarthria. Affected individuals have limb spasticity with pyramidal signs, as well as nystagmus, hypermetropia, and astigmatism. Brain imaging shows hypomyelination and a delay in myelination, although serial imaging shows some progress in both the central and peripheral white matter regions (Riedhammer et al., 2021).
For a general phenotypic description and a discussion of genetic heterogeneity of HLD, see 312080.|OMIM|N|
C5543412|Multifocal fibromuscular dysplasia (FMDMF) is characterized histologically by medial fibroplasia and angiographically by multiple arterial stenoses with intervening mural dilations. Arterial tortuosity, macroaneurysms, dissections, and rupture may occur (summary by Richer et al., 2020).|OMIM|N|
C5543427|Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction (NEDCAM) is an autosomal recessive disorder characterized by global developmental delay with prominent motor abnormalities, mainly axial hypotonia, gait ataxia, and appendicular spasticity. Affected individuals have cognitive impairment and speech delay; brain imaging shows cerebellar atrophy. The severity is variable (summary by Kour et al., 2021).|OMIM|N|
C5543431|Arthrogryposis multiplex congenita-6 (AMC6) is a severe autosomal recessive disorder of skeletal muscle with onset of symptoms in utero. The pregnancies are usually complicated by polyhydramnios and reduced fetal movements. Affected individuals have congenital joint contractures, dysmorphic facial features, distal skeletal anomalies with clenched hands and clubfeet, and edema with fetal hydrops. Fetal demise or termination of pregnancy often occurs after ultrasound detection of abnormalities. Those that survive to birth have significant hypotonia with absent spontaneous movements, respiratory insufficiency, arthrogryposis, and multiple pterygia. Skeletal muscle is hypoplastic, immature, and underdeveloped, with nemaline rods, poorly developed sarcomeres, and poor cross-striation. Death in infancy usually occurs (summary by Ahmed et al., 2018, Rocha et al., 2021).
For a discussion of genetic heterogeneity of AMC, see AMC1 (617468).|OMIM|N|
C5543440|Cataracts, spastic paraparesis, and speech delay (CSPSD) is an autosomal dominant disorder characterized by spastic paraparesis and bilateral congenital/juvenile cataracts. Speech delay is a common feature (Ferdinandusse et al., 2021).|OMIM|N|
C5543441|An abnormal strcutural of the zone (lobe) of the cerebral cortex that is located inferior to the lateral fissure on other cerebral hemispheres.|HPO|N|
C5543445|Bartsocas-Papas syndrome-2 (BPS2) is a severe form of popliteal pterygium disorder characterized by cutaneous webbing across one or more joints, cleft lip and/or palate, syndactyly, and genital malformations (summary by Leslie et al., 2015).|OMIM|N|
C5543446|Developmental and epileptic encephalopathy-96 (DEE96) is characterized by onset of seizures in the first days or weeks of life. Affected infants have tonic or myoclonic seizures associated with burst-suppression pattern on EEG. They also have hypotonia with respiratory insufficiency that may result in premature death. Those that survive have profound developmental delay and persistent seizures (summary by Suzuki et al., 2019).
For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350.|OMIM|N|
C5543466|Visceral myopathy-2 (VSCM2) is characterized by gastrointestinal symptoms resulting from intestinal dysmotility and paresis, including abdominal distention, pain, nausea, and vomiting. Some patients exhibit predominantly esophageal symptoms, with hiatal hernia and severe reflux resulting in esophagitis and stricture, whereas others experience chronic intestinal pseudoobstruction. Bladder involvement resulting in megacystis and megaureter has also been observed and may be evident at birth (Dong et al., 2019; Gilbert et al. (2020)).|OMIM|N|
C5543475|Reduced muscle tone of the sphincter of the anus.|HPO|N|
C5543476|Megacystis-microcolon-intestinal hypoperistalsis syndrome-2 (MMIHS2) is characterized by prenatal bladder enlargement, neonatal functional gastrointestinal obstruction, and chronic dependence on total parenteral nutrition and urinary catheterization. The majority of cases have a fatal outcome due to malnutrition and sepsis, followed by multiorgan failure (summary by Wang et al., 2019).
For a discussion of genetic heterogeneity of MMIHS, see 249210.|OMIM|N|
C5543478|Childhood-onset ataxia, intention tremor, and hypotonia syndrome (ATITHS) is a neurodevelopmental disorder characterized by delayed walking due to ataxia, intention tremor, and hypotonia apparent from early childhood. Affected individuals have global developmental delay with mildly impaired intellectual development and speech delay or learning disabilities. Eye movement abnormalities may also be present. Brain imaging shows cerebellar atrophy in some patients (summary by Webb et al., 2021).|OMIM|N|
C5543481|Recurrent episodes of sustained upward deviation of the eyes and incomplete downward saccades, and normal horizontal eye movements without impairment of consciousness.|HPO|N|
C5543482|Deafness, cataract, impaired intellectual development, and polyneuropathy (DCIDP) is characterized by early-onset of deafness, cataract, severe developmental delay, and severely impaired intellectual development. Patients later develop polyneuropathy of the lower extremities, associated with depigmentation of the hair in that area (Kroll-Hermi et al., 2020).|OMIM|N|
C5543491|Mitochondrial complex IV deficiency nuclear type 22 (MC4DN22) is an autosomal recessive metabolic disorder characterized by neonatal hypertrophic cardiomyopathy, encephalopathy, and severe lactic acidosis with fatal outcome (Wintjes et al., 2021).
For a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see 220110.|OMIM|N|
C5543496|Onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome (OORS) is an autosomal recessive syndromic developmental disorder characterized by global developmental delay with impaired intellectual development, dysmorphic facial features, and hypoplastic terminal phalanges and nails. Patients have seizures or tonic posturing. The disorder is associated with a defect in GPI anchoring of membrane-bound proteins (summary by Salian et al., 2021).
For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (610293).
See also DOORS syndrome (220500), which shows some overlapping clinical features.|OMIM|N|
C5543503|Hereditary angioedema-4 (HAE4) is an autosomal dominant disorder characterized by episodic subcutaneous or submucosal edema with onset usually in adulthood. Swelling most commonly involves the face and tongue, sometimes resulting in occlusion of the airway, which can cause death. The larynx, abdomen, and limbs may also be involved. Circulating C1 inhibitor (C1INH) levels and function, as well as plasminogen levels and activity, are normal. Although the disorder is autosomal dominant, there is evidence of incomplete penetrance, variable expressivity, and female predominance. The episodes may be triggered by stress, oral contraceptives, ACE inhibitors, and angiotensin II receptor blockades. The pathogenesis is believed to be due to altered plasmin function resulting in enhanced release of bradykinin. Successful clinical management has been achieved with tranexamic acid, which inhibits plasmin, and icatibant, a selective bradykinin B2 receptor (113503) antagonist (summary by Farkas et al., 2021).
For a discussion of genetic heterogeneity of HAE, see 106100.|OMIM|N|
C5543508|Hereditary angioedema-5 (HAE5) is an autosomal dominant disorder characterized by localized and self-limiting edema of the subcutaneous or submucosal tissue due to an episodic increase in vascular permeability. Affected individuals have onset of episodic swelling of the face, lips, hands, and abdomen in the second decade of life. Treatment with tranexamic acid may be effective in reducing the severity and frequency of the attacks (summary by Bafunno et al., 2018).
For a discussion of genetic heterogeneity of hereditary angioedema, see 106100.|OMIM|N|
C5543513|Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare congenital defect of visceral smooth muscle, primarily affecting females who present at birth with functional obstruction of the intestine, microcolon, dilation of the bladder, and secondary hydronephrosis. Total parenteral nutrition, adequate intermittent catheterization of bladder, and surgical corrections for intestinal malrotation are frequent modes of treatment for this disease without which rapid death ensues. In some instances, multivisceral organ transplantation has been undertaken with some success. Despite these clinical interventions, MMIHS often leads to premature death due to complications of therapy (summary by Halim et al., 2017).
For a discussion of genetic heterogeneity of MMIHS, see 249210.|OMIM|N|
C5543516|Hereditary angioedema-6 (HAE6) is an autosomal dominant disorder characterized by onset of episodic subcutaneous and submucosal swelling in adulthood. The face, mouth, and tongue are often affected; some patients have distal limb or abdominal edema. Levels of complement component inhibitor (C1INH; 606860) are normal (summary by Bork et al., 2019).
For a discussion of genetic heterogeneity of HAE, see 106100.|OMIM|N|
C5543519|Megacystis-microcolon-intestinal hypoperistalsis syndrome-4 (MMIHS4) is a severe early-onset disorder characterized by impaired smooth muscle contractility in the bladder and intestines (Kandler et al., 2020).
For a discussion of genetic heterogeneity of MMIHS, see 249210.|OMIM|N|
C5543526|Hereditary angioedema-7 (HAE7) is an autosomal dominant disorder characterized by onset of recurrent episodic swelling of the face, lips, and oral mucosa in the second decade. The disorder is due to abnormal vascular permeability (summary by Ariano et al., 2020).
For a discussion of genetic heterogeneity of HAE, see 106100.|OMIM|N|
C5543528|Hereditary angioedema-8 (HAE8) is an autosomal dominant disorder characterized clinically by recurrent and self-limited episodes of localised edema in various organs, including the face, tongue, larynx, and extremities. In rare cases, swelling of the tongue or larynx can lead to airway obstruction. Abdominal attacks may also occur, resulting in abdominal pain, vomiting, and diarrhea. The disorder results from enhanced vascular permeability (summary by Bork et al., 2021).
For a discussion of genetic heterogeneity of HAE, see 106100.|OMIM|N|
C5543531|Lymphatic malformation-10 (LMPHM10) is an autosomal dominant disorder characterized by onset of lymphedema within the first year of life. Lymphedema primarily involves the lower extremities but may also occur in the neck, upper extremities, and scrotum or labia majora. Gradual resorption generally occurs, although some patients may experience progression complicated by cellulitis (Leppanen et al., 2020).
For a discussion of genetic heterogeneity of lymphatic malformation, see 153100.|OMIM|N|
C5543535|Dilated cardiomyopathy-2D (CMD2D) is characterized by neonatal onset of severe cardiomyopathy, with rapid progression to cardiac decompensation and death unless the patient undergoes heart transplantation (Ganapathi et al., 2020).
For a general phenotypic description and a discussion of genetic heterogeneity of dilated cardiomyopathy, see 115200.|OMIM|N|
C5543538|Neurodevelopmental disorder with infantile epileptic spasms (NEDIES) is characterized by onset of severe and frequent epileptic spasms within the first year of life. Affected individuals have global developmental delay with delayed walking and poor or absent speech. More variable features may include poor overall growth, high-arched palate, and delayed myelination on brain imaging (summary by Fatima et al., 2021).|OMIM|N|
C5543540|Immunodeficiency-81 (IMD81) is an autosomal recessive complex immunologic disorder with onset of symptoms in infancy. The phenotype is highly variable and may include both immunodeficiency with recurrent infections, including bacterial and fungal infections, as well as autoimmune features, including autoimmune hemolytic anemia, pancytopenia, thrombocytopenia, and inflammatory bowel disease. Immunologic workup shows immune dysregulation with abnormalities affecting multiple immune cell lineages, including T cells, B cells, NK cells, and neutrophils, which may be decreased or increased and demonstrate functional deficits. There is a wide range of hematologic abnormalities. Affected individuals may be susceptible to severe EBV infection. The disorder is caused by a defect in intracellular immune signaling pathways (summary by Lev et al., 2021; Edwards et al., 2023).|OMIM|N|
C5543547|Familial autoinflammatory syndrome with or without immunodeficiency (AISIMD) is characterized by onset of various autoimmune features usually in the first decades of life, although later onset has been reported. Typical features include autoimmune cytopenia, hemolytic anemia, thrombocytopenia, and lymphadenopathy. More variable features may include autoimmune thyroiditis, psoriasis or eczema, nephritis, hepatitis, and symptoms of systemic lupus erythematosus (SLE; see 152700). Some patients may have recurrent infections or exacerbation of the disease with acute infection. Laboratory studies show variable findings, often decreased numbers of naive B cells, lymphopenia with skewed subsets, hypogammaglobulinemia, presence of autoantibodies, and a hyperinflammatory state. The disorder shows autosomal dominant inheritance with incomplete penetrance (summary by Hadjadj et al., 2020).|OMIM|N|
C5543554|Faundes-Banka syndrome (FABAS) is an autosomal dominant disorder characterized by variable combinations of developmental delay and microcephaly, as well as micrognathia and other dysmorphic features (Faundes et al., 2021).|OMIM|N|
C5543557|Osteootohepatoenteric syndrome (OOHE) is characterized by a variable combination of bone fragility, hearing loss, cholestasis, and congenital diarrhea. Some patients also display mild developmental delay and intellectual disability (Esteve et al., 2018).|OMIM|N|
C5543570|Spermatogenic failure-54 (SPGF54) is characterized by male infertility due to oligoteratoasthenozoospermia, with markedly reduced sperm counts and severely reduced or absent sperm motility (Arafat et al., 2021).
For a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).|OMIM|N|
C5543573|Pyriform spermatozoa consist of a normally shaped acrosomal structure which can be normal in size or enlarged, while the post-acrosomal region shows severe elongation and an acute narrowing to the posterior end, ending in about the same thickness as the connecting mid-piece.|HPO|N|
C5543576|Sharply angled insertion of the neck and midpiece into the head of a spermatozoon. This term applies if the proportion of spermatozoa with this feature is above the upper limit of normal.|HPO|N|
C5543580|Spermatogenic failure-55 (SPGF55) is characterized by male infertility due to asthenozoospermia, with severely reduced sperm motility (Xu et al., 2018).
For a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).|OMIM|N|
C5543581|Immunodeficiency-82 with systemic inflammation (IMD82) is a complex autosomal dominant immunologic disorder characterized by recurrent infections with various organisms, as well as noninfectious inflammation manifest as lymphocytic organ infiltration with gastritis, colitis, and lung, liver, CNS, or skin disease. One of the more common features is inflammation of the stomach and bowel. Most patients develop symptoms in infancy or early childhood; the severity is variable. There may be accompanying fever, elevated white blood cell count, decreased B cells, hypogammaglobulinemia, increased C-reactive protein (CRP; 123260), and a generalized hyperinflammatory state. Immunologic workup shows variable B- and T-cell abnormalities such as skewed subgroups. Patients have a propensity for the development of lymphoma, usually in adulthood. At the molecular level, the disorder results from a gain-of-function mutation that leads to constitutive and enhanced activation of the intracellular inflammatory signaling pathway. Treatment with SYK inhibitors rescued human cell abnormalities and resulted in clinical improvement in mice (Wang et al., 2021).|OMIM|N|
C5543591|Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities (NEDHFBA) is an autosomal recessive neurologic syndrome characterized by global developmental delay with severely impaired intellectual development, hypotonia and muscle weakness, often resulting in the inability to walk or sit, and characteristic coarse facial features. Additional features include feeding difficulties, respiratory distress, scoliosis, poor visual function, and rotary nystagmus. Brain imaging shows variable abnormalities, including enlarged ventricles, decreased white matter volume, white matter changes, thin corpus callosum, and cerebellar hypoplasia (summary by Loddo et al., 2020).|OMIM|N|
C5543592|Combined oxidative phosphorylation deficiency-52 (COXPD52) is an autosomal recessive infantile mitochondrial complex II/III deficiency characterized by lactic acidemia, multiorgan system failure, and abnormal mitochondria. Intrafamilial variability has been reported (Farhan et al., 2014; Hershkovitz et al., 2021).
For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060).|OMIM|N|
C5543595|Autosomal recessive spinocerebellar ataxia-29 (SCAR29) is a progressive neurodegenerative disorder characterized by delayed motor development in early infancy followed by difficulty walking due to an ataxic gait or inability to walk, hypotonia, and variably impaired intellectual development. Other features include dysarthria, nystagmus, peripheral spasticity, nystagmus, and visual impairment. Brain imaging typically shows atrophy of the cerebellar vermis, but other abnormalities may also be present. Some patients are wheelchair-bound and/or nonverbal (summary by Sanderson et al., 2021)
In a review of the pathogenesis of disorders with prominent dystonia as a feature, Monfrini et al. (2021) classified SCAR29 as belonging to a group of neurologic disorders termed 'HOPS-associated neurologic disorders' (HOPSANDs), which are caused by mutations in genes encoding various components of the autophagic/endolysosomal system, including VPS41.|OMIM|N|
C5543600|Susceptibility to infection-induced acute encephalopathy-10 (IIAE10) presents as neurologic deficits in response to acute infection, particularly with herpes simplex virus-1 (HSV-1), which leads to inflammation of the brain and herpes simplex encephalitis (HSE). The age at onset ranges from infancy to adulthood. However, some mutation carriers do not develop encephalopathy even if exposed to the virus, indicating incomplete penetrance (summary by Lafaille et al., 2019).
For a phenotypic description of herpes simplex encephalitis (HSE) and a discussion of genetic heterogeneity of susceptibility to acute infection-induced encephalopathy, see 610551.|OMIM|N|
C5543614|Lymphatic malformation-11 (LMPHM11) is characterized by lower extremity edema, with onset in the second or third decade of life. Some affected individuals may have subclinical lymphatic malformations (Michelini et al., 2020).
For a discussion of genetic heterogeneity of lymphatic malformation, see LMPHM1 (153100).|OMIM|N|
C5543616|Familial hypertrophic cardiomyopathy-28 (CMH28) is characterized by asymmetric septal hypertrophy, atrial fibrillation and nonsustained ventricular tachycardia, and risk of sudden death. Dyspnea is the most common symptom, but more than half of affected individuals are asymptomatic. Hypertrabeculation of the left ventricle with noncompaction has been observed in some patients (Ochoa et al., 2018).
For a general phenotypic description and discussion of genetic heterogeneity of familial hypertrophic cardiomyopathy, see CMH1 (192600).|OMIM|N|
C5543620|Autosomal recessive spinocerebellar ataxia-30 (SCAR30) is a progressive neurologic disorder characterized by childhood-onset global developmental delay with variably impaired intellectual development, motor dysfunction, and cerebellar ataxia. Affected individuals may also have psychiatric abnormalities, such as obsessive behavior, psychotic episodes, or hallucinations. Brain imaging usually shows cerebellar atrophy, although this may be an age-dependent feature (summary by Langer et al., 2018).|OMIM|N|
C5543621|Hypokalemic tubulopathy and deafness (HKTD) is an autosomal recessive disorder characterized by hypokalemic tubulopathy with renal salt wasting, disturbed acid-base homeostasis, and sensorineural deafness (Schlingmann et al., 2021).|OMIM|N|
C5543622|WHIM syndrome-2 (WHIMS2) is an autosomal recessive immunologic disorder characterized by chronic neutropenia and myelokathexis, which is impaired neutrophil mobilization from the bone marrow. Affected individuals have recurrent infections, usually bacterial (summary by Auer et al., 2014).
In a review of WHIMS, Heusinkveld et al. (2019) noted that there is significant phenotypic variation among patients, such that some individuals may have an 'incomplete' form of the disorder in which 1 or more of the classic tetrad features are not present. In general, the WHIMS phenotype comprises a spectrum of manifestations with variable expressivity.
For a discussion of genetic heterogeneity of WHIMS, see 193670.|OMIM|N|
C5543623|Infantile-onset multisystem neurologic, endocrine, and pancreatic disease-2 (IMNEPD2) is an autosomal recessive multisystemic disorder characterized by cholestatic hepatitis, poor feeding associated with poor overall growth, and hypoglycemia apparent from infancy. Most, but not all, patients have variable global developmental delay. Additional common features include sensorineural deafness, retinal abnormalities with visual defects, and hypotonia. Some patients have endocrine abnormalities, including hyperinsulinemic hypoglycemia, pancreatic dysfunction, hypothyroidism, and primary amenorrhea. Additional features may include hypertriglyceridemia, anemia, proteinuria, increased lactate, and recurrent infections. Brain imaging often shows dysmyelination, thin corpus callosum, cerebral atrophy, and white matter abnormalities. Although the clinical manifestations and severity of the disorder are highly variable, death in early childhood may occur (summary by Williams et al., 2019 and Zeiad et al., 2021).
For a discussion of genetic heterogeneity of IMNEPD, see IMNEPD1 (616263).|OMIM|N|
C5543626|Martsolf syndrome-2 (MARTS2) is an autosomal recessive disorder with the main features of congenital cataracts, mildly to severely impaired intellectual development, and facial dysmorphism. Other features include brain malformations, microcephaly, and hypogonadism-hypogenitalism (summary by Koparir et al., 2019).|OMIM|N|
C5543627|Autosomal recessive spinocerebellar ataxia-31 (SCAR31) is a complex neurodevelopmental disorder characterized by global developmental delay with hypotonia and variably impaired intellectual and language development. Affected individuals have an ataxic gait, tremor, and dysarthria; more severely affected patients also have spasticity with inability to walk. Most have optic atrophy. Brain imaging shows cerebellar hypoplasia, enlarged ventricles, and atrophy of the posterior corpus callosum. Additional features may include retinitis pigmentosa, sensorineural deafness, dysmorphic facial features, and possibly endocrine dysfunction (summary by Collier et al., 2021).|OMIM|N|
C5543630|The presence of atrophy (wasting) of the posterior portion of the corpus callosum.|HPO|N|
C5543631|Combined oxidative phosphorylation deficiency-53 (COXPD53) is an autosomal recessive disorder characterized by hypomyelination, microcephaly, liver dysfunction, and recurrent autoinflammation (summary by Lausberg et al., 2021).
For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060).|OMIM|N|
C5543632|Mitochondrial DNA depletion syndrome-16B (MTDPS16B) is an autosomal recessive childhood-onset and progressive neuroophthalmic mtDNA depletion disorder characterized by optic atrophy, mixed polyneuropathy, spinal and cerebellar ataxia, and generalized chorea (Dosekova et al., 2020).|OMIM|N|
C5543635|White-Kernohan syndrome (WHIKERS) is a neurodevelopmental disorder characterized by global developmental delay with variably impaired intellectual development, hypotonia, and characteristic facial features. Some patients may have abnormalities of other systems, including genitourinary and skeletal (summary by White et al., 2021).|OMIM|N|
C5543636|Megacystis-microcolon-intestinal hypoperistalsis syndrome-5 (MMIHS5) is a form of visceral myopathy characterized by significant inter- and intrafamilial variability, with the most severely affected patients exhibiting prenatal bladder enlargement, intestinal malrotation, neonatal functional gastrointestinal obstruction, and chronic dependence on total parenteral nutrition (TPN) and urinary catheterization (Wangler et al., 2014).
For a general phenotypic description and discussion of genetic heterogeneity of MMIHS, see MMIHS1 (249210).|OMIM|N|
C5543638|Familial restrictive cardiomyopathy-6 (RCM6) is characterized by prenatal onset of severe restrictive cardiomyopathy predominantly involving the right ventricle, resulting in irreversible heart failure and early death (Louw et al., 2018).
For a general phenotypic description and discussion of genetic heterogeneity of familial restrictive cardiomyopathy, see RCM1 (115210).|OMIM|N|
C5543639|Abnormal increase in size of the hepatic arteries.|HPO|N|
C5543646|Primary ciliary dyskinesia-46 (CILD46) is characterized by recurrent sinus and respiratory infections, with reduced pulmonary function and uncoordinated beating of respiratory cilia. No situs abnormalities have been observed (Edelbusch et al., 2017).
For a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400).|OMIM|N|
C5544381|Late-life depression associated with clinical or MRI defined cerebrovascular pathology.|MSH|N|
C5544451|Diseases characterized by inflammation of the nervous tissue.|MSH|N|
C5544452|Thrombosis with associated inflammation due to crosstalk between HEMOSTASIS and INNATE IMMUNE RESPONSES modulated by PLATELETS. It is associated with many diseases such as COVID-19; SICKLE CELL ANEMIA; and THROMBOPHLEBITIS.|MSH|N|
C5544500|Defined by a constellation of caregiver-reported symptoms that includes daydreaming, difficulty initiating and sustaining effort, lethargy, and physical underactivity. These symptoms have been observed in both typically developing children and in some children with Attention-Deficit/Hyperactivity Disorder (ADHD), especially those with the predominantly inattentive presentation. (J Abnormal Child Psychology; 46: Jan 2018.127). .|MSH|N|
C5544502|Loss or decreased brain function within intact region of the brain distant from the site of the lesion.|MSH|N|
C5544511|The inability to overcome a desire to have contact with and use technology and electronic devices.|MSH|N|
C5544517|Various intestinal diseases functionally defined as having reduced intestine function requiring PARENTERAL NUTRITION.|MSH|N|
C5544520|Medical services, including tests and procedures, that should not be performed given their potential for harm or the existence of comparably effective and often less expensive alternatives.|MSH|N|
C5544538|Repeated cycles of weight loss followed by weight gain.|MSH|N|
C5544539|Pathological processes involving the reproductive tract (GENITALIA).|MSH|N|
C5545367|A medication regime which is complicated to manage. For example, one that involves multiple medications or a single medication with a complex regime e.g. insulin.|SNOMEDCT_US|N|
C5545368|Redness of the skin of the eyelids, caused by hyperemia of the capillaries in the lower layers of the skin.|HPO|N|
C5545379|Congenital megacalycosis is a rare renal malformation, characterized by non-obstructive dilation of the renal calyces as well as an increased calyceal number (12-20), with a normal renal pelvis, ureter, and bladder. It may be unilateral or bilateral and is usually asymptomatic unless complicated by nephrolithiasis and urinary tract infection.|ORDO|N|
C5545668|A rare neurological disease which is a circadian rhythm sleep disorder characterized by non-synchronization to a 24-hour day leading to insomnia and daytime sleepiness with sometimes severe associated manifestations.|ORPHANET|N|
C5545754|When the subject does not know, or is unsure, of their sexual orientation.|SNOMEDCT_US|N|
C5545766|Skin disease that is not unique to the HIV (human immunodeficiency virus) positive population but may have a more severe presentation that is refractory to treatment as a result of coexisting HIV infection.|SNOMEDCT_US|N|
C5545787|The known quantity of intake in one day of a conditionally essential amino acid with the formula C6H14N4O2.|SNOMEDCT_US|N|
C5545788|The approximate quantity of intake in one day of a conditionally essential amino acid with the formula C6H14N4O2.|SNOMEDCT_US|N|
C5545789|The approximate quantity of intake in one day of a nonessential amino acid with the formula C5H10N2O3.|SNOMEDCT_US|N|
C5545790|The known quantity of intake in one day of a nonessential amino acid with the formula C5H10N2O3.|SNOMEDCT_US|N|
C5545791|The known quantity of intake in one day of a nonessential amino acid with the formula C4H9NO2S.|SNOMEDCT_US|N|
C5545792|The approximate quantity of intake in one day of a nonessential amino acid with the formula C4H9NO2S.|SNOMEDCT_US|N|
C5545793|The known quantity of intake in one day of an amino compound, with the formula C8H11NO, obtained by formal decarboxylation of the amino acid tyrosine.|SNOMEDCT_US|N|
C5545794|The approximate quantity of intake in one day of an amino compound, with the formula C8H11NO, obtained by formal decarboxylation of the amino acid tyrosine.|SNOMEDCT_US|N|
C5545795|The known quantity of intake in one day of a nonessential amino acid with the formula C9H11NO3.|SNOMEDCT_US|N|
C5545797|The known quantity of protein and protein derivative intake in one day from all sources including food, beverages, breastmilk/formula, supplements, and via enteral and parenteral routes.|SNOMEDCT_US|N|
C5545917|The known quantity of intake of galactose from all sources including food, beverages, breastmilk/formula, supplements, and via enteral and parenteral routes.|SNOMEDCT_US|N|
C5545920|The known quantity of intake of fructose from all sources including food, beverages, breastmilk/formula, supplements, and via enteral and parenteral routes.|SNOMEDCT_US|N|
C5545922|The known quantity of intake of lactose from all sources including food, beverages, breastmilk/formula, supplements, and via enteral and parenteral routes.|SNOMEDCT_US|N|
C5545924|The approximate glycaemic per day reflecting the consumption of all carbohydrate.|SNOMEDCT_US|N|
C5545925|The calculation reflecting the approximate quantity and quality of all carbohydrate consumed per day.|SNOMEDCT_US|N|
C5545972|Lower intake of vitamin B6 than compared to established reference standards or recommendations based on physiological needs.|SNOMEDCT_US|N|
C5545973|Higher intake of vitamin B6 compared to established reference standards or recommendations based on physiological needs.|SNOMEDCT_US|N|
C5546016|Late acute graft versus host disease is defined as presence of symptoms and signs 100 days after an allogenic transplant.|SNOMEDCT_US|N|
C5546017|Late chronic graft versus host disease is defined as presence of symptoms and signs 100 days after an allogenic transplant.|SNOMEDCT_US|N|
C5546032|A rare functional neutrophil defect characterized by infantile onset of increased susceptibility to pyogenic infections, especially of the skin, ears, lung, and lymph nodes, with neutrophils lacking specific granules and exhibiting bilobed nuclei on peripheral blood smear. Bone marrow biopsy shows hypercellularity, paucity of neutrophil granulocytes, and progressive myelodysplasia. Additional manifestations may include mild to moderate developmental delay, mild facial dysmorphic features (such as dysplastic ears), and anomalies of bones, teeth, and nails.|ORPHANET|N|
C5546033|Lower intake of vitamin B12 than compared to established reference standards or recommendations based on physiological needs.|SNOMEDCT_US|N|
C5546058|Higher intake of vitamin B12 compared to established reference standards or recommendations based on physiological needs.|SNOMEDCT_US|N|
C5546138|A subset of exercise-induced anaphylaxis in which symptoms develop if exertion takes place within a few hours of eating a specific food. In the case of food-dependent exercise-induced anaphylaxis, neither the food nor the exercise alone is enough to cause anaphylaxis.|MONDO|N|
C5546263|The known quantity of intake in one day of manganese from all sources including food, beverages, breastmilk/formula, supplements, and via enteral and parenteral routes.|SNOMEDCT_US|N|
C5546264|The approximate quantity of intake in one day of manganese from all sources including food, beverages, breastmilk/formula, supplements, and via enteral and parenteral routes.|SNOMEDCT_US|N|
C5546265|The approximate quantity of intake in one day of selenium from all sources including food, beverages, breastmilk/formula, supplements, and via enteral and parenteral routes.|SNOMEDCT_US|N|
C5546266|The known quantity of intake in one day of selenium from all sources including food, beverages, breastmilk/formula, supplements, and via enteral and parenteral routes.|SNOMEDCT_US|N|
C5546267|The known quantity of intake in one day of molybdenum from all sources including food, beverages, breastmilk/formula, supplements, and via enteral and parenteral routes.|SNOMEDCT_US|N|
C5546268|The approximate quantity of intake in one day of molybdenum from all sources including food, beverages, breastmilk/formula, supplements, and via enteral and parenteral routes.|SNOMEDCT_US|N|
C5546269|The approximate quantity of intake in one day of chromium from all sources including food, beverages, breastmilk/formula, supplements, and via enteral and parenteral routes.|SNOMEDCT_US|N|
C5546270|The known quantity of intake in one day of chromium from all sources including food, beverages, breastmilk/formula, supplements, and via enteral and parenteral routes.|SNOMEDCT_US|N|
C5546572|The known quantity of intake of vitamin K from all sources including food, beverages, breastmilk/formula, supplements, and via enteral and parenteral routes.|SNOMEDCT_US|N|
C5546575|The known quantity of intake of thiamin from all sources including food, beverages, breastmilk/formula, supplements, and via enteral and parenteral routes.|SNOMEDCT_US|N|
C5546576|The known quantity of intake of vitamin D from all sources including food, beverages, breastmilk/formula, supplements, and via enteral and parenteral routes.|SNOMEDCT_US|N|
C5546578|The known quantity of intake of vitamin E from all sources including food, beverages, breastmilk/formula, supplements, and via enteral and parenteral routes.|SNOMEDCT_US|N|
C5546580|The known quantity of intake of vitamin A from all sources including food, beverages, breastmilk/formula, supplements, and via enteral and parenteral routes.|SNOMEDCT_US|N|
C5546587|The known quantity of intake of vitamin B6 from all sources including food, beverages, breastmilk/formula, supplements, and via enteral and parenteral routes.|SNOMEDCT_US|N|
C5546588|The known quantity of intake of vitamin B12 from all sources including food, beverages, breastmilk/formula, supplements, and via enteral and parenteral routes.|SNOMEDCT_US|N|
C5546589|The known quantity of intake of biotin from all sources including food, beverages, breastmilk/formula, supplements, and via enteral and parenteral routes.|SNOMEDCT_US|N|
C5546590|The known quantity of intake of pantothenic acid from all sources including food, beverages, breastmilk/formula, supplements, and via enteral and parenteral routes.|SNOMEDCT_US|N|
C5546592|The known quantity of intake of niacin from all sources including food, beverages, breastmilk/formula, supplements, and via enteral and parenteral routes.|SNOMEDCT_US|N|
C5546593|The known quantity of intake of riboflavin from all sources including food, beverages, breastmilk/formula, supplements, and via enteral and parenteral routes.|SNOMEDCT_US|N|
C5546631|A follicular lesion of the thyroid encompasses a wide range of diseases, and refers to the microscopic finding of follicular cells before a specific diagnosis.|SNOMEDCT_US|N|
C5546644|The known quantity of intake of iodine from all sources including food, beverages, breastmilk/formula, supplements, and via enteral and parenteral routes.|SNOMEDCT_US|N|
C5546646|The known quantity of intake of copper from all sources including food, beverages, breastmilk/formula, supplements, and via enteral and parenteral routes.|SNOMEDCT_US|N|
C5546648|The known quantity of intake of zinc from all sources including food, beverages, breastmilk/formula, supplements, and via enteral and parenteral routes.|SNOMEDCT_US|N|
C5546649|The known quantity of intake of fluoride from all sources including food, beverages, breastmilk/formula, supplements, and via enteral and parenteral routes.|SNOMEDCT_US|N|
C5546651|The known quantity of intake of phosphorus from all sources including food, beverages, breastmilk/formula, supplements, and via enteral and parenteral routes.|SNOMEDCT_US|N|
C5546652|The known quantity of intake of iron from all sources including food, beverages, breastmilk/formula, supplements, and via enteral and parenteral routes.|SNOMEDCT_US|N|
C5546764|Bullous diffuse cutaneous mastocytosis (BDCM) is a form of diffuse cutaneous mastocytosis (DCM; see this term) characterized by generalized erythroderma and severe blistering associated with the accumulation of mast cells in the skin.|ORDO|N|
C5546827|The approximate quantity of intake of boron in one day from all sources including food, beverages, breastmilk/formula, supplements, and via enteral and parenteral routes.|SNOMEDCT_US|N|
C5546828|The known quantity of intake of boron in one day from all sources including food, beverages, breastmilk/formula, supplements, and via enteral and parenteral routes.|SNOMEDCT_US|N|
C5546829|The approximate quantity of intake of cobalt in one day from all sources including food, beverages, breastmilk/formula, supplements, and via enteral and parenteral routes.|SNOMEDCT_US|N|
C5546830|The known quantity of intake of cobalt in one day from all sources including food, beverages, breastmilk/formula, supplements, and via enteral and parenteral routes.|SNOMEDCT_US|N|
C5546982|The known quantity of intake of plant fiber in grams in one day derived from enteral nutrition intake.|SNOMEDCT_US|N|
C5546984|The known quantity of intake of plant fibre in grams in one day derived from oral intake.|SNOMEDCT_US|N|
C5546986|The known quantity of intake of plant fiber in grams in one day.|SNOMEDCT_US|N|
C5546987|The known quantity of intake of insoluble fiber in one day from all sources including food, beverages, breastmilk/formula, supplements, and via enteral nutrition route.|SNOMEDCT_US|N|
C5546988|The known quantity of intake of soluble fibre in one day from all sources including food, beverages, breastmilk/formula, supplements, and via enteral nutrition route.|SNOMEDCT_US|N|
C5547045|Increased need for a specific nutrient compared to established reference standards or recommendations based on physiological needs.|SNOMEDCT_US|N|
C5547150|Lack of perceived value of nutrition behaviour change compared to the consequences or effort required to make change.|SNOMEDCT_US|N|
C5547168|Incomplete knowledge about food and/or nutrition.|SNOMEDCT_US|N|
C5547220|Less than 30% of sites on teeth exhibit periodontitis, and interdental attachment loss is 1-2 millimeters with radiographic evidence of mainly horizontal bone loss that is limited to the coronal third of the root with probing depths up to 4 millimeters. There is radiographic evidence of clinical attachment or bone loss with a minimum of 2 millimeters over the last five years, disease progression exceeds expectations related to biofilm deposits and bacterial control therapies, patient smokes at least 10 cigarettes daily and may be diabetic but exhibits HbA1c levels of at least 7%.|SNOMEDCT_US|N|
C5547221|Less than 30% of sites on teeth exhibit periodontitis, and interdental attachment loss is 3-4 millimeters with radiographic evidence of mainly horizontal bone loss and limited to the coronal third with probing depths up to 5 millimeters. There is no radiographic evidence of clinical attachment or bone loss over the last five years, heavy biofilm deposits are present, the patient is a nonsmoker, and there is no diagnosis of diabetes.|SNOMEDCT_US|N|
C5547222|Less than 30% of sites on teeth exhibit periodontitis, and interdental attachment loss is 3-4 millimeters with radiographic evidence of mainly horizontal bone loss and limited to the coronal third with probing depths up to 5 millimeters. There is radiographic evidence of clinical attachment or bone loss of less than 2 millimeters over the last five years, biofilm is contributing to the disease status, patient smokes less than 10 cigarettes daily and may be diabetic but exhibits HbA1c levels below 7%.|SNOMEDCT_US|N|
C5547223|Less than 30% of sites on teeth exhibit periodontitis, and interdental attachment loss is 3-4 millimeters with radiographic evidence of mainly horizontal bone loss and limited to the coronal third with probing depths up to 5 millimeters. There is radiographic evidence of clinical attachment or bone loss with a minimum of 2 millimeters over the last five years, disease progression exceeds expectations related to biofilm deposits and bacterial control therapies, patient smokes at least 10 cigarettes daily and may be diabetic but exhibits HbA1c levels of at least 7%.|SNOMEDCT_US|N|
C5547224|Less than 30% of the sites on teeth exhibit periodontitis, and interdental attachment loss is at least 5 millimetres with radiographic evidence of bone loss extending at least to the middle third of the root with vertical bone loss of at least 3 millimetres, probing depths of at least 6 millimetres moderate ridge defect, and furcation classification of II-III. There is no radiographic evidence of clinical attachment or bone loss over the last five years, heavy biofilm deposits are present, the patient is a nonsmoker, and there is no diagnosis of diabetes.|SNOMEDCT_US|N|
C5547225|Less than 30% of the sites on teeth exhibit periodontitis, and interdental attachment loss is at least 5 millimeters with radiographic evidence of bone loss extending at least to the middle third of the root with vertical bone loss of at least 3 millimeters, probing depths of at least 6 millimeters moderate ridge defect, and furcation classification of II-III. There is radiographic evidence of clinical attachment or bone loss of less than 2 millimeters over the last five years, biofilm is contributing to the disease status, patient smokes less than 10 cigarettes daily and may be diabetic but exhibits HbA1c levels below 7%.|SNOMEDCT_US|N|
C5547226|Less than 30% of the sites on teeth exhibit periodontitis and interdental attachment loss is at least 5 millimetres with radiographic evidence of bone loss extending at least to the middle third of the root with vertical bone loss of at least 3 millimetres, probing depths of at least 6 millimetres, moderate ridge defect, and furcation classification of II-III. There is radiographic evidence of clinical attachment or bone loss with a minimum of 2 millimetres over the last five years, disease progression exceeds expectations related to biofilm deposits and bacterial control therapies, patient smokes at least 10 cigarettes daily and may be diabetic but exhibits HbA1c levels of at least 7%.|SNOMEDCT_US|N|
C5547227|Less than 30% of sites on teeth exhibit periodontitis, and interdental attachment loss is 1-2 millimeters with radiographic evidence of mainly horizontal bone loss that is limited to the coronal third of the root with probing depths up to 4 millimeters. There is no radiographic evidence of clinical attachment or bone loss over the last five years, heavy biofilm deposits are present, the patient is a nonsmoker, and there is no diagnosis of diabetes.|SNOMEDCT_US|N|
C5547228|Less than 30% of sites on teeth exhibit periodontitis, and interdental attachment loss is 1-2 millimetres with radiographic evidence of mainly horizontal bone loss that is limited to the coronal third of the root with probing depths up to 4 millimetres. There is radiographic evidence of clinical attachment or bone loss of less than 2 millimetres over the last five years, biofilm is contributing to the disease status, patient smokes less than 10 cigarettes daily and may be diabetic but exhibits HbA1c levels below 7%.|SNOMEDCT_US|N|
C5547229|At least 30% of the sites on teeth exhibit periodontitis, and interdental attachment loss is at least 5 millimeters with radiographic evidence of bone loss extending to at least the middle third of the root, loss of at least 5 teeth due to periodontitis and no more than 10 opposing pairs of remaining teeth with a need for complex rehabilitation due to masticatory dysfunction, occlusal trauma resulting in tooth mobility, alveolar ridge defects and teeth that have moved from original positions. There is radiographic evidence of clinical attachment or bone loss with a minimum of 2 millimeters over the last 5 years, disease progression exceeds expectations related to biofilm deposits and bacterial control therapies, patient smokes at least 10 cigarettes daily and may be diabetic but exhibits HbA1c levels of at least 7%.|SNOMEDCT_US|N|
C5547230|At least 30% of the sites on teeth exhibit periodontitis, and interdental attachment loss is at least 5 millimetres with radiographic evidence of bone loss extending to at least the middle third of the root, loss of at least 5 teeth due to periodontitis and no more than 10 opposing pairs of remaining teeth with a need for complex rehabilitation due to masticatory dysfunction, occlusal trauma resulting in tooth mobility, alveolar ridge defects and teeth that have moved from original positions. There is radiographic evidence of clinical attachment or bone loss of less than 2 millimetres over the last 5 years, biofilm is contributing to the disease status, patient smokes less than 10 cigarettes daily and may be diabetic but exhibits HbA1c levels below 7%.|SNOMEDCT_US|N|
C5547231|At least 30% of the sites on teeth exhibit periodontitis, and interdental attachment loss is at least 5 millimetres with radiographic evidence of bone loss extending to at least the middle third of the root, loss of at least 5 teeth due to periodontitis and no more than 10 opposing pairs of remaining teeth with a need for complex rehabilitation due to masticatory dysfunction, occlusal trauma resulting in tooth mobility, alveolar ridge defects and teeth that have moved from original positions. There is no radiographic evidence of clinical attachment or bone loss over the last 5 years, heavy biofilm deposits are present, the patient is a nonsmoker, and there is no diagnosis of diabetes.|SNOMEDCT_US|N|
C5547232|At least 30% of the sites on teeth exhibit periodontitis, and interdental attachment loss is at least 5 millimeters with radiographic evidence of bone loss extending at least to the middle third of the root with vertical bone loss of at least 3 millimeters, probing depths of at least 6 millimeters moderate ridge defect, and furcation classification of II-III. There is radiographic evidence of clinical attachment or bone loss of less than 2 millimeters over the last 5 years, biofilm is contributing to the disease status, patient smokes less than 10 cigarettes daily and may be diabetic but exhibits HbA1c levels below 7%.|SNOMEDCT_US|N|
C5547233|At least 30% of the sites on teeth exhibit periodontitis, and interdental attachment loss is at least 5 millimeters with radiographic evidence of bone loss extending at least to the middle third of the root with vertical bone loss of at least 3 millimeters, probing depths of at least 6 millimeters moderate ridge defect, and furcation classification of II-III. There is radiographic evidence of clinical attachment or bone loss with a minimum of 2 millimeters over the last five years, disease progression exceeds expectations related to biofilm deposits and bacterial control therapies, patient smokes at least 10 cigarettes daily and may be diabetic but exhibits HbA1c levels of at least 7%.|SNOMEDCT_US|N|
C5547234|At least 30% of the sites on teeth exhibit periodontitis, and interdental attachment loss is at least 5 millimeters with radiographic evidence of bone loss extending at least to the middle third of the root with vertical bone loss of at least 3 millimeters, probing depths of at least 6 millimeters moderate ridge defect, and furcation classification of II-III. There is no radiographic evidence of clinical attachment or bone loss over the last five years, heavy biofilm deposits are present, the patient is a nonsmoker, and there is no diagnosis of diabetes.|SNOMEDCT_US|N|
C5547235|At least 30% of sites on teeth exhibit periodontitis, and interdental attachment loss is 3-4 millimeters with radiographic evidence of mainly horizontal bone loss and limited to the coronal third with probing depths up to 5 millimeters. There is radiographic evidence of clinical attachment or bone loss with a minimum of 2 millimeters over the last five years, disease progression exceeds expectations related to biofilm deposits and bacterial control therapies, patient smokes at least 10 cigarettes daily and may be diabetic but exhibits HbA1c levels of at least 7%.|SNOMEDCT_US|N|
C5547236|At least 30% of sites on teeth exhibit periodontitis, and interdental attachment loss is 3-4 millimeters with radiographic evidence of mainly horizontal bone loss and limited to the coronal third with probing depths up to 5 millimeters. There is radiographic evidence of clinical attachment or bone loss of less than 2 millimeters over the last five years, biofilm is contributing to the disease status, patient smokes less than 10 cigarettes daily and may be diabetic but exhibits HbA1c levels below 7%.|SNOMEDCT_US|N|
C5547237|At least 30% of sites on teeth exhibit periodontitis, and interdental attachment loss is 3-4 millimetres with radiographic evidence of mainly horizontal bone loss and limited to the coronal third with probing depths up to 5 millimetres. There is no radiographic evidence of clinical attachment or bone loss over the last five years, heavy biofilm deposits are present, the patient is a nonsmoker, and there is no diagnosis of diabetes.|SNOMEDCT_US|N|
C5547238|At least 30% of sites on teeth exhibit periodontitis, and interdental attachment loss is 1-2 millimeters with radiographic evidence of mainly horizontal bone loss that is limited to the coronal third of the root with probing depths up to 4 millimeters. There is radiographic evidence of clinical attachment or bone loss with a minimum of 2 millimeters over the last five years, disease progression exceeds expectations related to biofilm deposits and bacterial control therapies, patient smokes at least 10 cigarettes daily and may be diabetic but exhibits HbA1c levels of at least 7%.|SNOMEDCT_US|N|
C5547239|At least 30% of sites on teeth exhibit periodontitis, and interdental attachment loss is 1-2 millimeters with radiographic evidence of mainly horizontal bone loss that is limited to the coronal third of the root with probing depths up to 4 millimeters. There is radiographic evidence of clinical attachment or bone loss of less than 2 millimeters over the last five years, biofilm is contributing to the disease status, patient smokes less than 10 cigarettes daily and may be diabetic but exhibits HbA1c levels below 7%.|SNOMEDCT_US|N|
C5547240|At least 30% of sites on teeth exhibit periodontitis, and interdental attachment loss is 1-2 millimetres with radiographic evidence of mainly horizontal bone loss that is limited to the coronal third of the root with probing depths up to 4 millimetres. There is no radiographic evidence of clinical attachment or bone loss over the last five years, heavy biofilm deposits are present, the patient is a nonsmoker, and there is no diagnosis of diabetes.|SNOMEDCT_US|N|
C5547329|Discitis caused by infection with fungi.|MONDO|N|
C5547460|The standard deviation score for body length at the child''s age of record.|SNOMEDCT_US|N|
C5547461|The standard deviation score for body weight at the child''s age of record.|SNOMEDCT_US|N|
C5547462|The standard deviation score for occipital-frontal head circumference at the age of record.|SNOMEDCT_US|N|
C5547463|The standard deviation score for body mass index at the child''s age of record.|SNOMEDCT_US|N|
C5547464|The standard deviation score for body length in proportion to attained growth in length.|SNOMEDCT_US|N|
C5547465|Body weight for length at the age of record expressed as a percentile of other children''s body weight for length measures.|SNOMEDCT_US|N|
C5547466|The standard deviation score for body weight in proportion to attained growth in height.|SNOMEDCT_US|N|
C5547467|Body mass index at the age of record expressed as a percentile of other children''s body mass index measures.|SNOMEDCT_US|N|
C5547468|The standard deviation score for body height at the child''s age of record.|SNOMEDCT_US|N|
C5547469|Body height at the age of record expressed as a percentile of other children''s body height measures.|SNOMEDCT_US|N|
C5547481|Occipital-frontal head circumference at the age of record expressed as a percentile of other children''s head circumference measures.|SNOMEDCT_US|N|
C5547529|Assessment of cycle of change stage for nutrition behavior.|SNOMEDCT_US|N|
C5547548|Seizure detected only via continuous EEG (electroencephalogram) with no external manifestations.|SNOMEDCT_US|N|
C5547744|Transtheoretical model (TTM) stage of change where the person sustains the target behaviour acquiring skills and implementing strategies to avoid returning to the previous nutrition behavior.|SNOMEDCT_US|N|
C5547746|Transtheoretical model (TTM) stage of change where the person is not intending to change the target nutrition behaviour.|SNOMEDCT_US|N|
C5547747|Transtheoretical model (TTM) stage of change where the person is ambivalent about change yet may be collecting information to change the target nutrition behaviour.|SNOMEDCT_US|N|
C5547748|Transtheoretical model (TTM) stage of change where the person believes they have the capacity for change and has changed the target nutrition behaviour.|SNOMEDCT_US|N|
C5547749|Transtheoretical model (TTM) stage of change where the person has made a commitment to change the target nutrition behaviour.|SNOMEDCT_US|N|
C5547900|Transtheoretical model (TTM) stage of change where the person does not desire nor intend to return to the previous nutrition behaviour.|SNOMEDCT_US|N|
C5547908|The approximate intake of meals in one day.|SNOMEDCT_US|N|
C5547952|Intake of an amount of a specific type of protein inconsistent with established reference standards or recommendations based on physiological needs.|SNOMEDCT_US|N|
C5547953|Intake of an amount of a specific type of fat inconsistent with established reference standards or recommendations based on physiological needs.|SNOMEDCT_US|N|
C5547954|Intake of an amount of a specific type of amino acid inconsistent with established reference standards or recommendations based on physiological needs.|SNOMEDCT_US|N|
C5547956|Intake of an amount of a specific nutrient inconsistent with need.|SNOMEDCT_US|N|
C5547957|Intake of an amount of a specific type of carbohydrate inconsistent with need.|SNOMEDCT_US|N|
C5548080|Myxopapillary ependymoma (MEPN) describes a slow growing ependymoma located almost exclusively in the conus medullaris-cauda equina-filum terminale region of the spinal cord, presenting in all age groups, and manifesting with variable symptoms such as neck pain, vomiting and unsteady gait and metastasis. It has a more aggressive disease course and is seen in the paediatric population.|SNOMEDCT_US|N|
C5548083|An extremely rare slow-growing glial neoplasm of the central nervous system, usually arising in a superficial location in the cerebrum, affecting all ages and both sexes. The disease has characteristics of intractable seizures and headaches with most cases being cured by surgical incision alone and therefore having a good prognosis.|SNOMEDCT_US|N|
C5548095|A rare mixed neuronal-glial neoplasm with characteristics of a supratentorial space-occupying lesion in periventricular location, often with prominent cystic change. The histological hallmark of this low-grade neoplasm is its pseudopapillary appearance with a single layer of cuboidal cells around hyalinized blood vessels, associated with sheets or focal collections of neuronal cells. Clinical presentation is variable and non-specific, most frequently with headache and seizures. Prognosis is favorable after complete resection.|SNOMEDCT_US|N|
C5548189|An atypical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease, characterized by a variable mixture of progressive asymmetric limb rigidity, apraxia, cortical sensory loss, alien limb, dystonia and bradykinesia that is unresponsive to levodopa. Postural instability and axial rigidity develop as the disease progresses. Neuropathological characteristics includes tau pathology and neuronal loss in specific brain areas, especially in the midfrontal and inferior parietal cortices.|ORDO|N|
C5548200|Neonatal glycine encephalopathy is a frequent, usually severe form of glycine encephalopathy (GE; see this term) characterized by coma, apnea, hypotonia, seizure and myoclonic jerks in the neonatal period, and subsequent developmental delay.|ORDO|N|
C5548206|Nasal ganglioglioma is a rare tumor, presenting in newborns, containing both neuronal and astrocytic components and that can be endonasal, extranasal or both. It is usually identified as a nasal mass that may cause feeding difficulties and nasal obstruction.|ORDO|N|
C5548209|Infantile glycine encephalopathy is a mild to severe form of glycine encephalopathy (GE; see this term), characterized by early hypotonia, developmental delay and seizures.|ORDO|N|
C5548210|Inverse Marcus-Gunn phenomenon is a rare congenital synkinesis where jaw opening by the pterygoid muscle (during eating or yawning) causes eyelid drooping from inhibition of the oculomotor nerve to the levator palpebrae superioris. Familial occurrence has been reported.|ORDO|N|
C5548212|Autosomal dominant form of distal hereditary motor neuropathy.|MONDO|N|
C5548369|Autosomal recessive form of distal hereditary motor neuropathy.|MONDO|N|
C5548370|An atypical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease, characterized by prominent early parkinsonism (tremor, limb bradykinesia, axial and limb rigidity) rather than falls and cognitive change. Over the years, patients ultimately develop clinical features characteristic of classical PSP. Neuropathological characteristics includes tau pathology and neuronal loss in specific brain areas, especially in the subthalamic nucleus and substantia nigra. The tau pathology is less severe than in classical PSP.|ORPHANET|N|
C5548371|A form or progressive supranuclear palsy syndrome (PSP), a rare late-onset neurodegenerative disease, characterized by an underlying PSP-tau pathology, that does not conform to the classic presentation of PSP. The clinical phenotype is variable and comprises PSP with predominant Parkinsonism (PSP-P), PSP with progressive gait freezing (PSP-PGF), PSP with predominant corticobasal syndrome (PSP-CBS), PSP with predominant speech/language disorder (PSP-SL), PSP with predominant frontal presentation (PSP-F), PSP with predominant ocular motor dysfunction (PSP-OM), and PSP with predominant postural instability (PSP-PI).|ORDO|N|
C5548372|A rare hereditary optic atrophy with characteristics of early onset of bilateral optic nerve degeneration without other systemic features. Clinical manifestations include pallor of the optic discs, severe but slowly progressing visual impairment, and in some patients also paracentral scotoma, photophobia and dyschromatopsia.|SNOMEDCT_US|N|
C5548425|The process of a neoplasm increasing in size and/or spreading.|SNOMEDCT_US|N|
C5548439|An exceedingly rare adenocarcinoma that arises from the uterine corpus and ovary and displays mesonephric differentiation. Some tumors are thought to derive from mesonephric duct (Wolffian duct) remnants. Others may have a Mullerian duct lineage.|NCI|N|
C5548494|A benign tumour invasive into adjacent structures.|SNOMEDCT_US|N|
C5550990|A teratogenic disorder observed in a newborn or child of a mother who was exposed to retinoids during pregnancy. Manifestations include growth delay, skull, facial, heart, and central nervous system malformations.|NCI|N|
C5550993|Mulberry molars are irregular teeth generally affecting the first molars and are characterized by a grossly deformed crown imitating, as the name implies, the surface of a mulberry.|HPO|N|
C5550994|Orientation of a ureter in an unusual anatomic location.|NCI|N|
C5551003|A rare hereditary disorder of bilirubin metabolism characterized by unconjugated hyperbilirubinemia due to a either a complete (type 1) or partial and inducible (type 2) hepatic deficit of UDP-glucuronosyltransferase 1A1 activity. The disorder manifests with neonatal jaundice with a risk of developing bilirubin encephalopathy.|ORDO|N|
C5551004|A benign soft tissue neoplasm characterized by the presence of neoplastic spindle and stellate cells, and vascular proliferation in a myxoid stroma.|NCI|N|
C5551005|Reduced density of hairs.|HPO|N|
C5551028|Subject is receiving treatment based on protocol.|NCI|N|
C5551172|Primary hypoalphalipoproteinemia-2 is an autosomal recessive disorder characterized by dysfunctional apoA-I production, resulting in undetectable levels of apoA-I in serum and in markedly low levels of serum high density lipoprotein cholesterol (HDL-C). The disorder is associated with extensive atherosclerosis, xanthomas, and corneal opacities (summary by Tanaka et al., 2018).
For a discussion of genetic heterogeneity of primary hypoalphalipoproteinemia, see 604091.|OMIM|N|
C5551334|An infection that is caused by the nematode Trichuris trichiura, a soil-transmitted helminth, which is transmitted via food and/or water contaminated with the eggs of the worm. Symptoms are usually mild and include abdominal pain, diarrhea, fatigue, and possibly anemia secondary to blood loss in diarrhea.|MONDO|N|
C5551343|ADCY5 dyskinesia is a hyperkinetic movement disorder (more prominent in the face and arms than the legs) characterized by infantile to late-adolescent onset of chorea, athetosis, dystonia, myoclonus, or a combination of these. To date, affected individuals have had overlapping (but not identical) manifestations with wide-ranging severity. The facial movements are typically periorbital and perioral. The dyskinesia is prone to episodic or paroxysmal exacerbation lasting minutes to hours, and may occur during sleep. Precipitating factors in some persons have included emotional stress, intercurrent illness, sneezing, or caffeine; in others, no precipitating factors have been identified. In some children, severe infantile axial hypotonia results in gross motor delays accompanied by chorea, sometimes with language delays. The overall tendency is for the abnormal movements to stabilize in early middle age, at which point they may improve in some individuals; less commonly, the abnormal movements are slowly progressive, increasing in severity and frequency.|GeneReviews|N|
C5551352|Aicardi-Goutieres syndrome-8 (AGS8) is a type I interferonopathy characterized by severe developmental delay and progressive neurologic deterioration ending in premature death. Brain imaging shows diffusely abnormal white matter, severe cerebral atrophy, and intracranial calcification (Uggenti et al., 2020).
For a general phenotypic description and discussion of genetic heterogeneity of Aicardi-Goutieres syndrome, see AGS1 (225750).|OMIM|N|
C5551359|A benign papillary neoplasm composed of transitional cells and characterized by an endophytic growth pattern.|NCI|N|
C5551361|Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum (NEDDFAC) is characterized by global developmental delay, impaired intellectual development with poor or absent speech and language, and dysmorphic facial features. Brain imaging tends to show thin corpus callosum and decreased white matter volume. Additional features such as seizures, cardiac defects, and behavioral abnormalities may also occur. The phenotype is variable (summary by Bina et al., 2020).|OMIM|N|
C5551362|Neuroocular syndrome-1 (NOC1) encompasses a broad spectrum of overlapping anomalies, with developmental delay or impaired intellectual development as a consistent finding. Eye abnormalities show marked variability in the type and severity of defects, and include anophthalmia, microphthalmia, and coloboma. Other common systemic features include congenital heart and kidney defects, hypotonia, failure to thrive, and microcephaly (summary by Chowdhury et al., 2021).
Genetic Heterogeneity of Neuroocular Syndrome
See also NOC2 (168885), caused by mutation in the DAGLA gene (614015) on chromosome 11q12.|OMIM|N|
C5551365|Anomalous location of the insertion of umbilical cord in the placenta. Normally, the insertion is at least two centimers distant from the edge of the placenta.|HPO|N|
C5551375|Neuronal ceroid lipofuscinosis-6A (CLN6A) is an autosomal recessive neurodegenerative disorder with a variable age at onset in the first years of life after normal early development. Affected individuals have progressive decline of neurologic function, including visual deterioration in most, cognitive impairment, loss of motor function, and seizures. As with all CLNs, CLN6A is characterized pathologically by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally. The lipopigment patterns observed most often in CLN6A comprises mixed combinations of 'curvilinear' and 'fingerprint' profiles (summary by Sharp et al., 2003; Mole et al., 2005).
For a discussion of genetic heterogeneity of CLN, see CLN1 (256730).|OMIM|N|
C5551396|Eating excessive quantities of food, often after stressful events. Compare BULIMIA.|PSY|N|
C5551411|A typical absence seizure is a type of generalized non-motor (absence) seizure characterized by its sudden onset, interruption of ongoing activities, a blank stare, possibly a brief upward deviation of the eyes. Usually the patient will be unresponsive when spoken to. Duration is a few seconds to half a minute with very rapid recovery. Although not always available, an EEG would usually show 3 Hz generalized epileptiform discharges during the event.|HPO|N|
C5551413|An abnormality of the primary sensation that is mediated by peripheral nerves (pain, temperature, touch, vibration, joint position). The word hypoesthesia (or hypesthesia) refers to a reduction in cutaneous sensation to a specific type of testing.|HPO|N|
C5551425|A persistent, irrational fear of treatment, whether preventative or therapeutic, by a dentist, coupled with compulsive desire to avoid any such situation.|NCI|N|
C5551428|The presence of a seminoma, an undifferentiated germ cell tumor of the testis.|HPO|N|
C5551440|Coxa vara includes all forms of decrease of the femoral neck shaft angle (the angle between the neck and the shaft of the femur) to less than 120 degrees.|HPO|N|
C5551442|The presence of autoantibodies (immunoglobulins) in the blood circulation that react against anti-alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor (AMPAR).|HPO|N|
C5551462|Combat Exposure Scale CES0102 Standardized Character Result 4 - 4-6 months.|NCI|N|
C5551484|Otospondylomegaepiphyseal dysplasia (OSMED) is characterized by sensorineural hearing loss, enlarged epiphyses, disproportionate shortness of the limbs, abnormalities in vertebral bodies, and typical facial features (summary by Harel et al., 2005).|OMIM|N|
C5551485|This type of lymphoma is not frequently seen in the western hemisphere. Clinically, with the exception of anaplastic large cell lymphoma, mature T- and NK-cell lymphomas are among the most aggressive of all hematopoietic neoplasms. Representative disease entities include mycosis fungoides, angioimmunoblastic T-cell lymphoma, hepatosplenic T-cell lymphoma, and anaplastic large cell lymphoma.|NCI|N|
C5551489|The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Carbonic anhydrase-related protein VIII (CARPVIII).|HPO|N|
C5551491|The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Rho GTPase-activating protein 26 (ARHGAP26).|HPO|N|
C5551496|The presence of autoantibodies (immunoglobulins) in the blood circulation that react against glial fibrillary acidic protein (GFAP).|HPO|N|
C5551501|The presence of autoantibodies (immunoglobulins) in the blood circulation that react against glutamate kainate receptor subunit 2 (GluK2).|HPO|N|
C5551506|The presence of autoantibodies (immunoglobulins) in the blood circulation that react against ryanodine receptor.|HPO|N|
C5551510|NR0B1-related adrenal hypoplasia congenita includes both X-linked adrenal hypoplasia congenita (X-linked AHC) and Xp21 deletion (previously called complex glycerol kinase deficiency). X-linked AHC is characterized by primary adrenal insufficiency and/or hypogonadotropic hypogonadism (HH). Adrenal insufficiency is acute infantile onset (average age 3 weeks) in approximately 60% of affected males and childhood onset (ages 1-9 years) in approximately 40%. HH typically manifests in a male with adrenal insufficiency as delayed puberty (i.e., onset age >14 years) and less commonly as arrested puberty at about Tanner Stage 3. Rarely, X-linked AHC manifests initially in early adulthood as delayed-onset adrenal insufficiency, partial HH, and/or infertility. Heterozygous females very occasionally have manifestations of adrenal insufficiency or hypogonadotropic hypogonadism. Xp21 deletion includes deletion of NR0B1 (causing X-linked AHC) and GK (causing glycerol kinase deficiency), and in some cases deletion of DMD (causing Duchenne muscular dystrophy). Developmental delay has been reported in males with Xp21 deletion when the deletion extends proximally to include DMD or when larger deletions extend distally to include IL1RAPL1 and DMD.|GeneReviews|N|
C5551529|Form of aphasia involving impaired ability to perform simple arithmetic calculations.|PSY|N|
C5551563|Chronic non-bacterial prostatitis.|SNOMEDCT_US|N|
C5551620|A chromosomal abnormality consisting of the presence of a third copy of chromosome 17 in somatic cells.|NCI|N|
C5551904|A rare immune deficiency with skin involvement characterized by early infantile onset of a clinical tetrad comprising generalized severe seborrheic-like erythroderma, recurrent secondary bacterial or fungal infections (most commonly <i>Staphylococcus aureus</i>, Candida, and gram-negative bacteria), persistent, profuse malabsorptive diarrhea, and failure to thrive or marked wasting. Associated systemic symptoms include fever, anemia, and weight loss. Further critical complications are impaired thermoregulation and severe fluid loss due to extensive exfoliation.|ORDO|N|
C5552101|A neoplasm that affects the visual pathway.|NCI|N|
C5552685|A disorder in which there is pathological development of blood clots within the cardiovascular system.|NCI|N|
C5552701|Cervical cancer with regional lymph node metastasis (measuring more than 2.0 mm in diameter) to para-aortic lymph nodes, with or without positive pelvic lymph nodes. (from AJCC 9th Ed.)|NCI|N|
C5552702|Cervical cancer with regional lymph node metastasis (measuring more than 0.2 mm but equal or less than 2.0 mm in diameter) to para-aortic lymph nodes, with or without positive pelvic lymph nodes. (from AJCC 9th Ed.)|NCI|N|
C5552703|Cervical cancer with regional lymph node metastasis to para-aortic lymph nodes with or without positive pelvic lymph nodes. (from AJCC 9th Ed.)|NCI|N|
C5552704|The histopathological evaluation of nonalcoholic fatty liver disease (NAFLD) and nonalcoholic steatohepatitis (NASH) based on the NAFLD scoring system. (Kleiner DE, Brunt EM, Van Natta M, Behling C, Contos MJ, Cummings OW, Ferrell LD, Liu YC, Torbenson MS, Unalp-Arida A, Yeh M, McCullough AJ, Sanyal AJ; Nonalcoholic Steatohepatitis Clinical Research Network. Design and validation of a histological scoring system for nonalcoholic fatty liver disease. Hepatology. 2005 Jun;41(6):1313-21.)|NCI|N|
C5552706|The disappearance of all signs of leukemia in response to treatment.|NCI|N|
C5552708|A benign conjunctival finding noted especially among darker pigmented individuals. While it is typically found perilimbally and bilaterally, it can also cover the conjunctivae extensively and may present asymmetrically. The flat, non-cystic pigmentation may increase in size with age. It is rare to have this finding evolve into conjunctival melanoma.|NCI|N|
C5552713|Cervical carcinoma with involvement limited to the upper two-thirds of the vagina without parametrial invasion. (from AJCC 9th Ed.)|NCI|N|
C5552714|Invasive cervical carcinoma with measured stromal invasion equal or less than 3 mm in depth. (from AJCC 9th Ed.)|NCI|N|
C5552715|A premalignant neurofibromatous neoplasm characterized by the presence of at least two of the following features: cytologic atypia, hypercellularity, less than 3 mitotic figures per 10 HPFs, and loss of neurofibroma architecture. It is associated with an increased risk of progression to malignant peripheral nerve sheath tumor.|NCI|N|
C5552721|A pulmonary nodule located in the outer third of the lung.|NCI|N|
C5552725|An X-linked recessive condition caused by mutation(s) in the IL1RAPL1 gene, encoding interleukin-1 receptor accessory protein-like 1. It is characterized by intellectual disability ranging from moderate mental retardation to high-functioning autism.|NCI|N|
C5552729|The reemergence of indolent non-Hodgkin lymphoma after a period of remission.|NCI|N|
C5552731|Continuous spikes and waves during sleep (CSWS) is a rare epileptic encephalopathy of childhood characterized by seizures, an electroencephalographic (EEG) pattern of electrical status epilepticus in sleep (ESES) and neurocognitive regression in at least 2 domains of development.|MONDO|N|
C5552732|Invasive cervical carcinoma measuring more than 2 cm and equal or less than 4 cm in greatest dimension. (from AJCC 9th Ed.)|NCI|N|
C5552733|An indication that the expression of NCF2 is lower than the normal range of values.|NCI|N|
C5552734|An indication that the expression of NCF1 is lower than the normal range of values.|NCI|N|
C5552735|Cervical cancer with regional lymph node metastasis (measuring more than 2.0 mm in diameter) to pelvic lymph nodes. (from AJCC 9th Ed.)|NCI|N|
C5552736|Cervical cancer with regional lymph node metastasis (measuring more than 0.2 mm but equal or less than 2.0 mm in diameter) to pelvic lymph nodes. (from AJCC 9th Ed.)|NCI|N|
C5552737|Cervical cancer with regional lymph node metastasis to pelvic lymph nodes only. (from AJCC 9th Ed.)|NCI|N|
C5552750|Eastern Cooperative Oncology Group Performance Status ECOG101 Original Result - Dead.|NCI|N|
C5552753|Cervical cancer with microscopic confirmation of distant metastasis including inguinal lymph nodes, lung, liver, bone, or intraperitoneal metastases. Metastases to pelvic or paraaortic lymph nodes, or vagina are excluded. (from AJCC 9th Ed.)|NCI|N|
C5552754|Cervical cancer with distant metastasis including inguinal lymph nodes, lung, liver, bone, or intraperitoneal metastases. Metastases to pelvic or paraaortic lymph nodes, or vagina are excluded. (from AJCC 9th Ed.)|NCI|N|
C5552755|Cervical carcinoma with involvement limited to the upper two-thirds of the vagina without parametrial invasion measuring 4.0 cm or less in greatest dimension. (from AJCC 9th Ed.)|NCI|N|
C5552756|Cervical cancer extending to pelvic sidewall and/or involving the lower third of vagina, and/or causing hydronephrosis or nonfunctioning kidney. The pelvic sidewall is defined as the muscle, fascia, neurovascular structures, and skeletal portions of the bony pelvis. Cases with no cancer-free space between the tumor and pelvic wall by rectal examination are FIGO III. (from AJCC 9th Ed.)|NCI|N|
C5552757|Invasive cervical carcinoma that can be diagnosed only by microscopy with maximum depth of invasion equal or less than 5 mm. (from AJCC 9th Ed.)|NCI|N|
C5552758|Invasive cervical carcinoma with measured stromal invasion of more than 3.0 mm and equal or less than 5.0 mm in depth. (from AJCC 9th Ed.)|NCI|N|
C5552760|Cervical cancer extending to pelvic wall and/or causing hydronephrosis or nonfunctioning kidney (unless known to be due to another cause). (from AJCC 9th Ed.)|NCI|N|
C5552761|Cervical cancer has involved (biopsy-proven) the mucosa of the bladder or rectum, or has spread to adjacent organs. (Bullous edema, as such, does not permit a case to be assigned to stage IVA). (from AJCC 9th Ed.)|NCI|N|
C5552762|A change in the nucleotide sequence of a gene encoding a protein that is a component of polycomb repressive complex 2 (PRC2) and results in a decrease or loss of PRC2 histone methyltransferase activity.|NCI|N|
C5552764|A finding indicating elevated concentrations of HMGA2 in a sample.|NCI|N|
C5552766|The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ma2.|HPO|N|
C5552767|An indication that the expression of CYBA is lower than the normal range of values.|NCI|N|
C5552768|An indication that the expression of CYBB is lower than the normal range of values.|NCI|N|
C5552772|A non-invasive, precursor epithelial proliferation that arises from the fallopian tube, lacks severe atypia, and demonstrates serous differentiation.|NCI|N|
C5552785|A locally aggressive, low grade chondrosarcoma arising in the medulla of bone or within the cartilaginous cap of a pre-existing osteochondroma in the axial skeleton.|NCI|N|
C5552786|Invasive cervical carcinoma with measured deepest invasion more than 5 mm (greater than FIGO stage IA); lesion limited to the cervix uteri with size measured by maximum tumor diameter. Note: The involvement of vascular/lymphatic spaces should not change the staging. The lateral extent of the lesion is no longer considered. (from AJCC 9th Ed.)|NCI|N|
C5552787|Cervical carcinoma with involvement limited to the upper two-thirds of the vagina without parametrial invasion measuring more than 4.0 cm in greatest dimension. (from AJCC 9th Ed.)|NCI|N|
C5552788|Cervical carcinoma with parametrial invasion but not up to the pelvic wall. (from AJCC 9th Ed.)|NCI|N|
C5552791|Cervical carcinoma strictly confined to the cervix (extension to corpus should be disregarded). (from AJCC 9th Ed.)|NCI|N|
C5552792|Cervical carcinoma invading beyond the uterus but not to the pelvic wall or to lower third of vagina. (from AJCC 9th Ed.)|NCI|N|
C5552811|A benign, localized, nodular and well-circumscribed neoplasm seen as a congenital neoplasm or in the first year of life. It is characterized by a biphasic growth pattern and is composed of small, undifferentiated mesenchymal cells associated with branching thin-walled vessels and more mature neoplastic spindle cells with abundant eosinophilic cytoplasm in a collagenous stroma.|NCI|N|
C5552818|The reemergence of pilocytic astrocytoma after a period of remission.|NCI|N|
C5552819|Invasive cervical carcinoma measuring more than 5 mm in depth and equal or less than 2 cm in greatest dimension. (from AJCC 9th Ed.)|NCI|N|
C5552829|An adverse event that is reported by a healthcare professional, consumer, or patient through an organized data collection system.|NCI|N|
C5552857|BMI 30-39.9 kg/m2|NCI|N|
C5552863|A change in the nucleotide sequence of the LGR5 gene.|NCI|N|
C5552868|A change in the nucleotide sequence of the NCF2 gene.|NCI|N|
C5552869|A change in the nucleotide sequence of the NCF1 gene.|NCI|N|
C5552887|A change in the nucleotide sequence of the XRCC3 gene.|NCI|N|
C5552888|Combat Exposure Scale CES0105 Through CES0107 Original Result - 13-50 times.|NCI|N|
C5552889|Combat Exposure Scale CES0101 Original Result - 13-50 times.|NCI|N|
C5552890|Combat Exposure Scale CES0105 Through CES0107 Original Result - 51+ times.|NCI|N|
C5552891|Combat Exposure Scale CES0101 Original Result - 51+times.|NCI|N|
C5552892|Combat Exposure Scale CES0105 Through CES0107 Original Result - 3-12 times.|NCI|N|
C5552893|Combat Exposure Scale CES0103 Original Result - 3-12 times.|NCI|N|
C5552918|A deletion of adenine-guanine and an insertion of thymine-thymine at positions 1154 and 1155 of the coding sequence of the PDGFRA gene.|NCI|N|
C5552919|A deletion of adenine-guanine and an insertion of thymine-adenine at positions 1154 and 1155 of the coding sequence of the PDGFRA gene.|NCI|N|
C5552920|A change in the nucleotide sequence of the G6PC3 gene that either inhibits expression or results in the translation of an inactive glucose-6-phosphatase 3 protein.|NCI|N|
C5552921|An autosomal recessive inherited disorder caused by mutations in the G6PC3 gene. It is characterized by the absence or presence of very low levels of glucose-6-phosphatase 3. Patients may develop severe congenital neutropenia.|NCI|N|
C5552922|A change in the nucleotide sequence of the WRN gene that either inhibits expression or results in the translation of an inactive Werner syndrome ATP-dependent helicase protein.|NCI|N|
C5552923|A change in the nucleotide sequence of the BLM gene that either inhibits expression or results in the translation of an inactive Bloom syndrome protein.|NCI|N|
C5552924|A change in the nucleotide sequence of the RASA2 gene.|NCI|N|
C5552925|A change in the nucleotide sequence of the RASA1 gene.|NCI|N|
C5552967|Cervical cancer involving the lower third of vagina but not extending to pelvic wall. (from AJCC 9th Ed.)|NCI|N|
C5552969|An expected set of reactions that may occur soon after injection of a vaccine. These expected adverse reactions are a physical manifestation of the inflammatory response to the vaccine.|NCI|N|
C5552970|The presence of autoantibodies (immunoglobulins) in the blood circulation that react against CV2/CRMP5. Anti-CV2/CRMP5 autoantibody is the most commonly detected anti-neuronal autoantibody. Patients with typical paraneoplastic chorea show fully developed chorea in the course of weeks to months with acute inflammation in the striatum.|HPO|N|
C5552972|Combat Exposure Scale CES0104 Standardized Character Result 4 - 51-75%.|NCI|N|
C5552974|A genetic condition caused by mutation(s) in the PRKG2 gene, encoding cGMP-dependent protein kinase 2. It is characterized by acromelia and mesomelia.|NCI|N|
C5552980|A less than complete reduction in the size or extent of a neoplastic process in response to therapy, based on pathologic examination.|NCI|N|
C5552983|A rare, human papillomavirus-associated premalignant glandular intraepithelial neoplasm that arises from the cervix. It is characterized by the presence of stratified, immature epithelial cells containing varying quantities of intracytoplasmic mucin. There is no evidence of stromal invasion. It is distinct from conventional cervical squamous or glandular intraepithelial neoplasias.|NCI|N|
C5552985|Familial erythroleukemia is a leukemic or preleukemic state in which red cell proliferation is the predominant feature. Hematologic characteristics include particularly ineffective and hyperplastic erythropoiesis with megaloblastic components accompanied by myeloblastic proliferation of varying degree (Park et al., 2002).
Park et al. (2002) discussed the evolution of the definition of 'erythroleukemia,' which is considered by most to be a subtype of acute myelogenous leukemia (AML; 601626). Controversy about the precise definition of erythroleukemia revolves around the number or percentage of erythroblasts and myeloblasts found in the bone marrow and peripheral circulation. In the French-American-British (FAB) classification system (Bennett et al., 1985), it is known as AML-M6, whereas in the revised World Health Organization (WHO) classification system (Harris et al., 1999), it is known as 'AML, not otherwise categorized' (Zini and D'Onofrio, 2004).|OMIM|N|
C5552989|A change in the nucleotide sequence of the MPO gene that either inhibits expression or results in the translation of an inactive myeloperoxidase protein.|NCI|N|
C5552993|The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Hu.|HPO|N|
C5552999|The largest diameter found for any extrapelvic peritoneal metastases in a subject.|NCI|N|
C5553005|A rare, low grade ovarian epithelial neoplasm characterized by the presence of glandular or cystic spaces which contain atypical glandular epithelial cells resembling endometrial cells.|NCI|N|
C5553008|Absent talus owing to a congenital defect.|HPO|N|
C5553013|The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ri, an antineuronal antibody.|HPO|N|
C5553104|A recessive distal myopathy characterized by weakness in the distal lower extremity posterior compartment (gastrocnemius and soleus muscles) and associated with difficulties in standing on tip toes.|ORDO|N|
C5553879|Combat Exposure Scale CES0101 Standardized Character Result 2 - 1-3 times.|NCI|N|
C5553880|Combat Exposure Scale CES0103 Standardized Character Result 2 - 1-2 times.|NCI|N|
C5553881|Combat Exposure Scale CES0105 Through CES0107 Standardized Character Result 2 - 1-2 times.|NCI|N|
C5553882|Combat Exposure Scale CES0104 Standardized Character Result 2 - 1-25%.|NCI|N|
C5553883|Eastern Cooperative Oncology Group Performance Status ECOG101 Standardized Character Result 2 - Ambulatory and capable of all selfcare but unable to carry out any work activities. Up and about more than 50% of waking hours.|NCI|N|
C5553884|Combat Exposure Scale CES0102 Standardized Character Result 2 - <1 month.|NCI|N|
C5553886|Combat Exposure Scale CES0103 Standardized Character Result 5 - 26+times.|NCI|N|
C5553887|Combat Exposure Scale CES0102 Standardized Character Result 5 - 7+ months.|NCI|N|
C5553888|Combat Exposure Scale CES0101 Standardized Character Result 5 - 51+times.|NCI|N|
C5553889|Combat Exposure Scale CES0105 Through CES0107 Standardized Character Result 5 - 51+ times.|NCI|N|
C5553890|Combat Exposure Scale CES0104 Standardized Character Result 5 - 76% or more.|NCI|N|
C5553891|Eastern Cooperative Oncology Group Performance Status ECOG101 Standardized Character Result 5 - Dead.|NCI|N|
C5553892|Combat Exposure Scale CES0104 Original Result - None.|NCI|N|
C5553919|Eastern Cooperative Oncology Group Performance Status ECOG101 Standardized Character Result 4 - Completely disabled. Cannot carry on any selfcare. Totally confined to bed or chair.|NCI|N|
C5553920|Combat Exposure Scale CES0101 Standardized Character Result 4 - 13-50 times.|NCI|N|
C5553921|Combat Exposure Scale CES0103 Standardized Character Result 4 - 13-25 times.|NCI|N|
C5553922|Combat Exposure Scale CES0105 Through CES0107 Standardized Character Result 4 - 13-50 times.|NCI|N|
C5553923|Combat Exposure Scale CES0102 Standardized Character Result 3 - 1-3 months.|NCI|N|
C5553924|Combat Exposure Scale CES0103 Standardized Character Result 3 - 3-12 times.|NCI|N|
C5553925|Combat Exposure Scale CES0101 Standardized Character Result 3 - 4-12 times.|NCI|N|
C5553926|Combat Exposure Scale CES0105 Through CES0107 Standardized Character Result 3 - 3-12 times.|NCI|N|
C5553927|Eastern Cooperative Oncology Group Performance Status ECOG101 Standardized Character Result 3 - Capable of only limited selfcare, confined to bed or chair more than 50% of waking hours.|NCI|N|
C5553928|Combat Exposure Scale CES0104 Standardized Character Result 3 - 26-50%.|NCI|N|
C5553929|Combat Exposure Scale CES0102 Standardized Character Result 1 - Never.|NCI|N|
C5553930|Combat Exposure Scale CES0104 Standardized Character Result 1 - None.|NCI|N|
C5553931|Combat Exposure Scale CES0103 Standardized Character Result 1 - No.|NCI|N|
C5553932|Eastern Cooperative Oncology Group Performance Status ECOG101 Standardized Character Result 1 - Restricted in physically strenuous activity but ambulatory and able to carry out work of a light or sedentary nature, e.g., light house work, office work.|NCI|N|
C5553933|Combat Exposure Scale CES0105 Through CES0107 Standardized Character Result 1 - Never.|NCI|N|
C5553934|Combat Exposure Scale CES0101 Standardized Character Result 1 - No.|NCI|N|
C5553937|The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Tr/DNER. Anti-Tr antibodies are directed against cerebellar Purkinje cells (termed anti-Tr or PCA-Tr). Anti-Tr autoantibodies are frequently associated with Hodgkin lymphoma (HL). Anti-Tr antibodies are defined by a specific staining pattern in cerebellar tissue that is characterized by punctate immunoreactivity in both the dendritic tree and soma of Purkinje cells but not in their axons. This characteristic pattern is indicative of the presence of anti-Tr antibodies. The Delta/Notch-like epidermal growth factor-related receptor (DNER) was identified as the target antigen of anti-Tr.|HPO|N|
C5553945|The reemergence of gliomatosis cerebri after a period of remission.|NCI|N|
C5553947|The disappearance of all signs of solid tumors in response to treatment.|NCI|N|
C5553951|The predisposition of an individual to develop a specific disease based on their heredity.|NCI|N|
C5554001|The term fetal vascular malperfusion (FVM) is used to describe placental pathology that is throught to result from an obstruction in fetal blood flow that could result from a number of conditions (eg, umbilical cord lesions, hypercoagulability, complications of fetal cardiac dysfunction, such as hypoxia, etc.).|HPO|N|
C5554035|Neuroendocrine tumor of the rectum is a rare epithelial tumor of rectum arising from enterochromaffin cells, most often in the mid-rectum. The tumors are slow growing, in early stages majority are asymptomatic and are diagnosed incidentally. Later in the course, the tumor may present with rectal bleeding, abdominal or rectal pain, tenesmus, changes in bowel habits, or weight loss. In some cases it may present with carcinoid symptoms of flushing and increased gut motility.|ORDO|N|
C5554042|A group of skin disorders including Stevens-Johnson syndrome/toxic epidermal necrolysis (SJS/TEN), drug reaction with eosinophilia and systemic symptoms (DRESS), acute generalized exanthematous pustulosis (AGEP), and generalized bullous fixed drug eruptions (GBFDE).|MONDO|N|
C5554190|A rare soft tissue tumor characterized by a compressive mass located in the mediastinum and/or pleura and lung, including prominent lymph node involvement, histologically poorly differentiated and frequently showing rhabdoid features. Loss of SMARCA4 is typically accompanied by SMARCA2-deficiency. Presenting symptoms include dyspnea, cough, chest pain, or dysphagia, among others. The tumors are aggressive with limited response to chemotherapies, rapid local progression, high recurrence rate after surgical resection, and short median survival times. There is a strong association with smoking.|ORDO|N|
C5554234|Multiple system atrophy, cerebellar type (MSA-c) is a form of multiple system atrophy (MSA; see this term) with predominant cerebellar features (gait and limb ataxia, oculomotor dysfunction, and dysarthria).|ORDO|N|
C5554235|Multiple system atrophy, parkinsonian type (MSA-p) is a form of multiple system atrophy (MSA; see this term) with predominant parkinsonian features (bradykinesia, rigidity, irregular jerky postural tremor, and postural instability).|ORDO|N|
C5554511|An extremely rare adenosarcoma that arises from the broad ligament.|NCI|N|
C5554543|A finding indicating that a cancer is resistant to platinum therapy. For non-gynecologic cancers, the terms ""platinum-resistant"" and ""platinum-refractory"" are used interchangeably. For gynecologic cancers, it refers to cancer progression between one and six months of completing the last platinum therapy.|NCI|N|
C5554549|The reemergence of endocervical adenocarcinoma, usual-type after a period of remission.|NCI|N|
C5554550|A cystadenoma that arises from the broad or other uterine ligaments. It is characterized by the presence of small papillary projections in the inner surface of the cysts. It may be sporadic or associated with von Hippel-Lindau disease.|NCI|N|
C5554557|A finding indicating that a cancer responds to platinum therapy initially, but it comes back after a certain period. For ovarian cancer, it refers to cancer relapse at least six months after the end of platinum therapy.|NCI|N|
C5554575|The predisposition of an individual to develop a malignant neoplasm based on their heredity.|NCI|N|
C5554578|Cervical squamous cell carcinoma that is not amenable to surgical resection.|NCI|N|
C5554579|Cervical squamous cell carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5554581|The predisposition of an individual to develop a malignant breast neoplasm based on their heredity.|NCI|N|
C5554608|A malignant nongerminomatous germ cell tumor that has spread from its original site of growth to another anatomic site.|NCI|N|
C5554609|The reemergence of a malignant nongerminomatous germ cell tumor after a period of remission.|NCI|N|
C5554611|An ovarian dermoid cyst associated with a distinct secondary component that resembles a somatic-type malignant neoplasm (e.g., carcinoma or sarcoma).|NCI|N|
C5554612|A chordoma that arises from the thoracic spine.|NCI|N|
C5554613|Rectal carcinoma characterized by the absence of microsatellite instability.|NCI|N|
C5554614|Colon carcinoma characterized by the absence of microsatellite instability.|NCI|N|
C5554617|A molecular abnormality referring to the loss of at least one copy of the MTAP gene.|NCI|N|
C5554618|An indication that the number of months that a subject''s blood concentration of prostate specific antigen took at least 10 months to double.|NCI|N|
C5554619|A variation in the amino acid sequence of a RAS family (HRAS, KRAS or NRAS) protein.|NCI|N|
C5554620|A change in the amino acid residue at position 61 of a RAS family (HRAS, KRAS or NRAS) protein where the glutamine is replaced by another amino acid and the encoded GTPase is resistant to GTP hydrolysis, which results in constitutive activation of its activity and downstream pathways.|NCI|N|
C5554621|A change in the valine at position 600 of the serine/threonine-protein kinase B-raf protein to another amino acid that results in constitutive activation of both serine/threonine-protein kinase B-raf and its downstream signaling pathways.|NCI|N|
C5554622|A finding indicating that the lowest blood concentration of prostate specific antigen for a subject was greater than or equal to 0.5 ng/mL.|NCI|N|
C5554623|A finding indicating that the lowest blood concentration of prostate specific antigen for a subject was less than 0.5 ng/mL.|NCI|N|
C5554628|Low grade glioma that is resistant to treatment.|NCI|N|
C5554629|The reemergence of low grade glioma after a period of remission.|NCI|N|
C5554630|Low grade astrocytoma that is resistant to treatment.|NCI|N|
C5554631|The reemergence of WHO grade 1 glioma after a period of remission.|NCI|N|
C5554632|A category of low grade gliomas that includes subependymal giant cell astrocytoma, pilocytic astrocytoma, angiocentric glioma, and subependymoma.|NCI|N|
C5554633|WHO grade 1 glioma that is resistant to treatment.|NCI|N|
C5554634|Lung large cell neuroendocrine carcinoma that has spread from its original site of growth to another anatomic site.|NCI|N|
C5554635|Lung large cell neuroendocrine carcinoma that has spread from its original site of growth to nearby tissues or lymph nodes.|NCI|N|
C5554636|Large cell neuroendocrine carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5554728|The reemergence of B acute lymphoblastic leukemia with t(9;22)(q34.1;q11.2); BCR-ABL1 after a period of remission.|NCI|N|
C5554730|A rare, aggressive type of chordoma characterized by loss of SMARCB1 expression. It affects children and occasionally young adults. Females are affected twice as frequently as males. It usually arises in the axial skeleton. It is composed of sheets or nests of malignant epithelioid cells with abundant eosinophilic cytoplasm. The prognosis is poor.|NCI|N|
C5554744|A response indicating that an individual has a problem with something.|NCI|N|
C5554829|The follow-up protocols were completed.|NCI|N|
C5554830|The subject was enrolled in another therapeutic study after going off the previous study.|NCI|N|
C5554832|When the maximum width of a mass is equal or greater than one-third of the internal transverse diameter of the thorax at the level of T5/6 on a PA CXR. Bulk at an alternate site is defined as any mass measuring 10 cm or more by any imaging study.|NCI|N|
C5554833|The subject received steroids within one week prior to diagnosis of the disease phase.|NCI|N|
C5554834|The subject received steroids within one month prior to diagnosis of the disease phase.|NCI|N|
C5554836|The anatomic source of the molecular analysis sample.|NCI|N|
C5554855|A molecular abnormality indicating that a messenger RNA was found at lower levels than expected.|NCI|N|
C5554857|An indication that no therapy was administered prior to the primary treatment for the purpose of making the primary treatment more effective.|NCI|N|
C5554870|A molecular abnormality indicating rearrangements of the NOTCH gene family.|NCI|N|
C5554871|A rare smooth muscle neoplasm of uncertain biological potential. It is associated with Epstein-Barr virus infection and seen in patients with immunodeficiency, including primary immunodeficiency, HIV/AIDS infection, and post-transplant immunosuppression.|NCI|N|
C5554874|A pleomorphic leiomyosarcoma that lacks immunohistochemical staining for myogenic markers in the pleomorphic areas.|NCI|N|
C5554884|Congenital/infantile spindle cell rhabdomyosarcoma characterized by the presence of gene fusions involving the VGLL2, SRF, TEAD1, NCOA2, and CITED2 genes.|NCI|N|
C5554885|A molecular abnormality indicating rearrangement of the CITED2 gene.|NCI|N|
C5554886|A molecular abnormality indicating rearrangement of the NCOA2 gene.|NCI|N|
C5554887|Spindle cell/sclerosing rhabdomyosarcoma characterized by the presence of MYOD1 p.Leu122Arg substitution mutation. This subtype includes most spindle cell/sclerosing rhabdomyosarcomas in adolescents and young adults, as well as some cases in older adults. It follows an aggressive clinical course.|NCI|N|
C5554888|Intraosseous spindle cell rhabdomyosarcoma characterized by the fusion of the EWSR1 or FUS gene with the TFCP2 gene, or the MEIS1 gene with the NCOA2 gene.|NCI|N|
C5554889|A molecular abnormality indicating rearrangement of the TFCP2 gene.|NCI|N|
C5554892|The point at which oxygen uptake no longer increases and beyond which no level of effort can raise it.|NCI|N|
C5554893|A molecular abnormality indicating rearrangement of the FN1 gene.|NCI|N|
C5554894|A schwannoma characterized by the presence of epithelioid cells with eosinophilic cytoplasm, within a myxoid and/or hyalinized stroma.|NCI|N|
C5554898|A change in the nucleotide sequence of the MYOD1 gene.|NCI|N|
C5554899|A nucleotide substitution at position 365 of the coding sequence of the MYOD1 gene where thymine has been mutated to guanine.|NCI|N|
C5554900|A variation in the amino acid sequence for myoblast determination protein 1.|NCI|N|
C5554902|A change in the amino acid residue at position 122 in the myoblast determination protein 1 protein where leucine has been replaced by arginine.|NCI|N|
C5554904|A change in the nucleotide sequence of the ATP6AP1 gene.|NCI|N|
C5554905|A change in the nucleotide sequence of the ATP6AP2 gene.|NCI|N|
C5554909|Microsatellite stable colon carcinoma that has spread from its original site of growth to another anatomic site.|NCI|N|
C5554910|Microsatellite stable colon carcinoma that has spread from its original site of growth to nearby tissues or lymph nodes.|NCI|N|
C5554912|A digestive system neuroendocrine neoplasm that has spread from its original site of growth to nearby tissues or lymph nodes.|NCI|N|
C5554918|An extracranial malignant solid neoplasm that is resistant to treatment.|NCI|N|
C5554966|A response about an individual''s alcohol consumption.|NCI|N|
C5554972|HER2-negative breast adenocarcinoma that has spread from its original site of growth to nearby tissues or lymph nodes.|NCI|N|
C5554975|A molecular abnormality indicating rearrangement of the PHF1 gene.|NCI|N|
C5554976|A molecular abnormality indicating rearrangement of the TGFBR3 gene.|NCI|N|
C5554977|A molecular abnormality indicating rearrangement of the OGA (MGEA5) gene.|NCI|N|
C5554978|Expression of a fusion protein that results from a fusion of the human genes FN1 and FGFR1.|NCI|N|
C5554979|Expression of a fusion protein that results from a fusion of the human genes FN1 and FGF1.|NCI|N|
C5554983|A response about an individual''s body weight.|NCI|N|
C5554988|A myxofibrosarcoma that is not amenable to surgical resection.|NCI|N|
C5554991|Plasma cell myeloma that is resistant to three classes of therapeutic agents, including proteasome inhibitors, immunomodulatory agents, and monoclonal antibodies.|NCI|N|
C5554992|A finding indicating that a plasma cell myeloma patient has received the following three classes of treatment: proteasome inhibitors, immunomodulatory agents, and monoclonal antibodies.|NCI|N|
C5554993|The predisposition of an individual to develop leukemia based on their heredity.|NCI|N|
C5554994|An autosomal dominant condition caused by mutation(s) in the CEBPA gene, encoding CCAAT/enhancer-binding protein alpha. It is characterized by an increased risk of developing hematologic malignancies, primarily myeloid.|NCI|N|
C5554995|An autosomal dominant condition caused by mutation(s) in the DDX41 gene, encoding probable ATP-dependent RNA helicase DDX41. It is characterized by an increased risk of developing hematologic malignancies, including myeloid and lymphoid leukemias and lymphoma.|NCI|N|
C5554996|A group of autosomal dominant-inherited disorders caused by mutation(s) in the CDC73 gene, encoding parafibromin. These disorders are associated with hyperparathyroidism secondary to parathyroid neoplasms.|NCI|N|
C5554997|The predisposition of an individual to develop a hematopoietic disorder based on their heredity.|NCI|N|
C5554998|An autosomal dominant condition caused by mutation(s) in the ETV6 gene, encoding transcription factor ETV6. It is characterized by an increased risk of developing thrombocytopenia and diverse hematologic malignancies, including myelodysplastic syndrome, acute myeloid leukemia, chronic myelomonocytic leukemia, B lymphoblastic leukemia, and plasma cell myeloma.|NCI|N|
C5555000|An autosomal dominant condition caused by mutation(s) in the SAMD9L gene, encoding sterile alpha motif domain-containing protein 9-like. It is characterized by an increased risk of developing myelodysplastic syndrome.|NCI|N|
C5555001|The predisposition of an individual to develop a neoplasm based on their heredity.|NCI|N|
C5555002|A genetic predisposition to Wilms tumor due to germline mutation(s) in the REST, TRIM28, or CTR9 genes, encoding RE1-silencing transcription factor, transcription intermediary factor 1-beta, and RNA polymerase-associated protein CTR9 homolog, respectively.|NCI|N|
C5555018|A reversible cardiomyopathy presumed to result from the presence of arrhythmias, including the tachycardia-induced cardiomyopathy (T-CM), atrial fibrillation-induced cardiomyopathy (AF-CM), and premature ventricular contraction-induced cardiomyopathy (PVC-CM).|NCI|N|
C5555025|An emerging rare group of soft tissue tumors, usually characterized by a monomorphic spindle cell infiltrate, stromal hyalinization, and frequent coexpression of S100 and CD34 by immunohistochemistry. Most tumors harbor NTRK1 fusions with a variety of partners. Rare cases involving NTRK2 and NTRK3 fusions have also been reported.|NCI|N|
C5555026|A molecular abnormality indicating rearrangement of the NR4A3 gene.|NCI|N|
C5555032|A malignant melanocytic neoplasm that arises from a mucosal site of the female genital tract.|NCI|N|
C5555037|A malignant melanocytic neoplasm that arises from a mucosal site of the genitourinary system.|NCI|N|
C5555046|A malignant melanocytic neoplasm that arises from a mucosal site of the urinary system.|NCI|N|
C5555050|Expression of a fusion protein that results from a fusion of the human genes EWSR1 and NFATC2.|NCI|N|
C5555051|Expression of a fusion protein that results from a fusion of the human genes FUS and NFATC2.|NCI|N|
C5555052|A group of rare round and spindle cell sarcomas characterized by the presence of EWSR1-NFATC2 gene fusion.|NCI|N|
C5555053|A group of rare round and spindle cell sarcomas characterized by the presence of EWSR1-PATZ1 gene fusion.|NCI|N|
C5555054|A group of rare round and spindle cell sarcomas characterized by the presence of FUS-NFATC2 gene fusion.|NCI|N|
C5555057|Primitive round cell sarcoma with BCOR genetic alterations, resulting in oncogenic activation and a high expression of BCOR.|SNOMEDCT_US|N|
C5555058|A group of rare primitive round cell sarcomas characterized by the presence of BCOR-CCNB3 fusion gene.|NCI|N|
C5555059|Expression of a fusion protein that results from a fusion of the human genes BCOR and CCNB3.|NCI|N|
C5555060|A group of rare primitive round cell sarcomas characterized by the presence of BCOR internal tandem duplication. This genetic alteration has been described in infantile undifferentiated round cell sarcomas and primitive myxoid mesenchymal tumors of infancy.|NCI|N|
C5555062|A change in the nucleotide sequence of the EXT1 gene.|NCI|N|
C5555063|A change in the nucleotide sequence of the EXT2 gene.|NCI|N|
C5555064|A locally aggressive, low-grade chondrosarcoma arising in the medulla of bone. Tumors in the appendicular skeleton are called central atypical cartilaginous tumors and tumors in the axial skeleton are called central chondrosarcomas, grade 1. Tumors arising in the medulla of the bone without a benign precursor are called primary central atypical cartilaginous tumors/chondrosarcomas, grade 1. Tumors arising in the medulla of the bone in association with a pre-existing enchondroma are called secondary central atypical cartilaginous tumors/chondrosarcomas, grade 1.|NCI|N|
C5555066|Central atypical cartilaginous tumor/chondrosarcoma, grade 1 arising in the medulla of bone without a benign precursor.|NCI|N|
C5555067|Central atypical cartilaginous tumor/chondrosarcoma, grade 1 arising in the medulla of bone in association with a pre-existing enchondroma.|NCI|N|
C5555068|A locally aggressive, low-grade chondrosarcoma arising in the medulla of bone in the appendicular skeleton.|NCI|N|
C5555069|A locally aggressive, low-grade chondrosarcoma arising in the medulla of bone in the axial skeleton.|NCI|N|
C5555070|A locally aggressive, low-grade chondrosarcoma arising within the cartilaginous cap of a pre-existing osteochondroma. Tumors in the appendicular skeleton are called peripheral atypical cartilaginous tumors and tumors in the axial skeleton are called peripheral chondrosarcomas, grade 1.|NCI|N|
C5555071|A locally aggressive, low-grade chondrosarcoma arising within the cartilaginous cap of a pre-existing osteochondroma in the axial skeleton.|NCI|N|
C5555072|A locally aggressive, low-grade chondrosarcoma arising within the cartilaginous cap of a pre-existing osteochondroma in the appendicular skeleton.|NCI|N|
C5555079|An intermediate-grade chondrosarcoma arising in the medulla of bone.|NCI|N|
C5555080|An intermediate-grade chondrosarcoma arising within the cartilaginous cap of a pre-existing osteochondroma.|NCI|N|
C5555081|A high-grade chondrosarcoma arising in the medulla of bone.|NCI|N|
C5555082|A high-grade chondrosarcoma arising within the cartilaginous cap of a pre-existing osteochondroma.|NCI|N|
C5555092|A group of SMARCB1/INI1 deficient tumors that arise from the central nervous system. It includes highly aggressive and slow-growing tumors.|NCI|N|
C5555093|A SMARCB1-deficient tumor of the brain arising in the pineal region. It is characterized by the presence of spindled and epithelioid cells with low-grade morphology that are embedded in a desmoplastic stroma alternating with various extents of loose myxoid matrix.|NCI|N|
C5555097|A change in the amino acid residue at position 95 in the serine/arginine-rich splicing factor 2 protein where proline has been replaced by another amino acid.|NCI|N|
C5555098|A finding indicating that the average number of new brain metastases per year after stereotactic radiosurgery is greater than or equal to 4.|NCI|N|
C5555101|A melanoma that arises from the mucosa of the penis.|NCI|N|
C5555102|A melanoma that arises from the skin of the penis.|NCI|N|
C5555104|A melanoma that arises from the mucosal surface of the pharynx.|NCI|N|
C5555105|A melanoma that arises from the mucosal surface of the nasopharynx.|NCI|N|
C5555106|A yolk sac tumor that is characterized by morphologic transformation to somatic-type malignancy. The somatic-type malignant component most often is sarcomatous or carcinomatous.|NCI|N|
C5555111|A variation in the amino acid sequence for mismatch repair endonuclease PMS2.|NCI|N|
C5555112|A variation in the amino acid sequence for DNA mismatch repair protein Mlh1.|NCI|N|
C5555113|A variation in the amino acid sequence for DNA mismatch repair protein Msh6.|NCI|N|
C5555114|A variation in the amino acid sequence for serine-protein kinase ATM.|NCI|N|
C5555115|A variation in the amino acid sequence for trypsin-1.|NCI|N|
C5555116|A variation in the amino acid sequence for epithelial cell adhesion molecule protein.|NCI|N|
C5555117|A variation in the amino acid sequence for partner and localizer of BRCA2 protein.|NCI|N|
C5555119|A change in the nucleotide sequence of the FAN1 gene.|NCI|N|
C5555120|A B-cell non-Hodgkin lymphoma with an aggressive clinical course. This category includes B lymphoblastic lymphoma, subtypes of diffuse large B-cell lymphoma, Burkitt lymphoma, grade 3 follicular lymphoma, and mantle cell lymphoma.|NCI|N|
C5555121|A change in the nucleotide sequence of the FAAP20 gene.|NCI|N|
C5555122|A T-cell non-Hodgkin lymphoma with an aggressive clinical course. This category includes T lymphoblastic lymphoma, anaplastic large cell lymphoma, ALK-negative, angioimmunoblastic T-cell lymphoma, hepatosplenic T-cell lymphoma, intestinal T-cell lymphoma, nasal type extranodal NK/T-cell lymphoma, peripheral T-cell lymphoma, not otherwise specified, and subtypes of primary cutaneous T-cell non-Hodgkin lymphoma.|NCI|N|
C5555125|The reduction in the average fitness of an individual or a population resulting from accumulated deleterious mutations.|NCI|N|
C5555126|The reemergence of an aggressive B-cell non-Hodgkin lymphoma after a period of remission.|NCI|N|
C5555127|The reemergence of an aggressive T-cell non-Hodgkin lymphoma after a period of remission.|NCI|N|
C5555128|An aggressive B-cell non-Hodgkin lymphoma that is resistant to treatment.|NCI|N|
C5555129|An aggressive T-cell non-Hodgkin lymphoma that is resistant to treatment.|NCI|N|
C5555130|A molecular abnormality indicating rearrangement of the FOS gene.|NCI|N|
C5555131|Low grade glioma that has spread from its primary site to another anatomic site.|NCI|N|
C5555132|Low grade astrocytoma that has spread from its primary site to another anatomic site.|NCI|N|
C5555136|A malignant bone tumor arising from the remnants of the fetal notochord. It is characterized by the presence of large epithelioid cells with clear to light eosinophilic cytoplasm. Some of the cells are large with bubbly, vacuolated cytoplasm (physaliphorous cells). The cells form cords and nests that are embedded within an extracellular myxoid matrix.|NCI|N|
C5555148|A very rare, locally aggressive neoplasm arising from the bones, usually from the metaphysis of long tubular bones. It is composed of spindle cells, hyaline cartilage nodules, and trabeculae of bone. It may recur locally, but no metastases have been reported.|NCI|N|
C5555149|A morphologic finding indicating the presence of poorly organized and inadequately mineralized bone in a tissue sample.|NCI|N|
C5555150|A benign neoplasm that is composed of brown adipocytes and arises within or on the surface of bone.|NCI|N|
C5555151|Langerhans cell histiocytosis affecting the bone.|NCI|N|
C5555152|Erdheim-Chester disease affecting the bone.|NCI|N|
C5555154|Rosai-Dorfman disease affecting the bone.|NCI|N|
C5555171|The reemergence of fallopian tube mucinous adenocarcinoma after a period of remission.|NCI|N|
C5555172|The reemergence of ovarian seromucinous carcinoma after a period of remission.|NCI|N|
C5555173|Fallopian tube mucinous adenocarcinoma that is resistant to treatment.|NCI|N|
C5555174|Ovarian seromucinous carcinoma that is resistant to treatment.|NCI|N|
C5555175|Fallopian tube endometrioid adenocarcinoma that is resistant to treatment.|NCI|N|
C5555176|Fallopian tube transitional cell carcinoma that is resistant to treatment.|NCI|N|
C5555177|Fallopian tube undifferentiated carcinoma that is resistant to treatment.|NCI|N|
C5555178|Fallopian tube high-grade serous adenocarcinoma that is resistant to treatment.|NCI|N|
C5555179|Ovarian high-grade serous adenocarcinoma that is resistant to treatment.|NCI|N|
C5555180|Low grade fallopian tube serous adenocarcinoma that is resistant to treatment.|NCI|N|
C5555181|Ovarian low-grade serous adenocarcinoma that is resistant to treatment.|NCI|N|
C5555182|Ovarian clear cell adenocarcinoma that is resistant to treatment.|NCI|N|
C5555183|Ovarian mucinous adenocarcinoma that is resistant to treatment.|NCI|N|
C5555184|Ovarian transitional cell carcinoma that is resistant to treatment.|NCI|N|
C5555185|Ovarian undifferentiated carcinoma that is resistant to treatment.|NCI|N|
C5555186|Primary peritoneal clear cell adenocarcinoma that is resistant to treatment.|NCI|N|
C5555187|Primary peritoneal endometrioid adenocarcinoma that is resistant to treatment.|NCI|N|
C5555188|Primary peritoneal high grade serous adenocarcinoma that is resistant to treatment.|NCI|N|
C5555189|Primary peritoneal low grade serous adenocarcinoma that is resistant to treatment.|NCI|N|
C5555190|Primary peritoneal transitional cell carcinoma that is resistant to treatment.|NCI|N|
C5555191|Primary peritoneal undifferentiated carcinoma that is resistant to treatment.|NCI|N|
C5555192|A finding indicating that a cancer is refractory to platinum therapy. For non-gynecologic cancers, the terms ""platinum-refractory"" and ""platinum-resistant"" are used interchangeably. For gynecologic cancers, it refers to cancer progression during platinum therapy or within one month of completing the last platinum therapy.|NCI|N|
C5555193|A malignant female reproductive system neoplasm that progresses during platinum therapy or within one month of completing the last platinum therapy.|NCI|N|
C5555194|Fallopian tube carcinoma that progresses during platinum therapy or within one month of completing the last platinum therapy.|NCI|N|
C5555195|Ovarian carcinoma that progresses during platinum therapy or within one month of completing the last platinum therapy.|NCI|N|
C5555197|Primary peritoneal carcinoma that progresses during platinum therapy or within one month of completing the last platinum therapy.|NCI|N|
C5555253|The source of the performance statistics of an assay.|NCI|N|
C5555258|The source of the antigenic component of interest in an assay.|NCI|N|
C5555259|The sub-region of the antigenic component of interest in an assay.|NCI|N|
C5555294|Cytomegalovirus infection is evident at the time of testing.|NCI|N|
C5555295|Epstein-Barr virus infection is evident at the time of testing.|NCI|N|
C5555296|Hepatitis B infection is evident at the time of testing.|NCI|N|
C5555297|Human immunodeficiency virus infection is evident at the time of testing.|NCI|N|
C5555298|Seasonal coronavirus infection is evident at the time of testing.|NCI|N|
C5555300|A processed result that is obtained from normalizing a primary raw measurement against a laboratory standard.|NCI|N|
C5555313|An indication that a patient required extracorporeal membrane oxygenation (ECMO) for respiratory support.|NCI|N|
C5555332|A disorder in which immune function is suppressed.|NCI|N|
C5555338|An indication that a patient required intubation for respiratory support.|NCI|N|
C5555342|An indication that a patient required mechanical ventilation for respiratory support.|NCI|N|
C5555348|A comorbid condition that is not among those been previously listed.|NCI|N|
C5555349|A disease etiology that is not among those been previously noted.|NCI|N|
C5555354|The unprocessed result as obtained from a primary laboratory measurement without alteration.|NCI|N|
C5555391|Emergency use authorization has been granted following regulatory review. The use of unapproved medical products, or unapproved uses of approved medical products in an emergency to diagnose, treat, or prevent serious or life-threatening diseases or conditions is allowed when certain statutory criteria have been met, including that there are no adequate, approved, and available alternatives.|NCI|N|
C5555392|Patient is uninfected. There are no clinical or virological evidence of infection.|NCI|N|
C5555393|Patient is ambulatory without limitation of activities.|NCI|N|
C5555394|Patient is ambulatory but there is limitation of activities.|NCI|N|
C5555395|Patient is hospitalized with mild disease but does not require oxygen therapy.|NCI|N|
C5555396|Patient is hospitalized with mild disease but requires oxygen by mask or nasal prongs.|NCI|N|
C5555397|Patient is hospitalized with severe disease and requires non-invasive ventilation or high-flow oxygen.|NCI|N|
C5555398|Patient is hospitalized with severe disease and requires intubation and mechanical ventilation.|NCI|N|
C5555399|Patient is hospitalized with severe disease and requires ventilation plus additional organ support via vasopressor therapy, renal replacement therapy, or extracorporeal membrane oxygenation.|NCI|N|
C5555400|Patient is dead.|NCI|N|
C5555403|A product intended for emergency use has not been submitted for regulatory review.|NCI|N|
C5555407|A product intended for emergency use has been submitted for regulatory review.|NCI|N|
C5555430|A non-neoplastic or neoplastic proliferation of B-lymphocytes.|NCI|N|
C5555431|A non-neoplastic or neoplastic proliferation of T-lymphocytes and/or NK-cells.|NCI|N|
C5555500|Head and neck carcinoma that is resistant to platinum therapy.|NCI|N|
C5555506|An adverse event that is voluntarily reported by a healthcare professional, consumer, or patient outside of an organized data collection system.|NCI|N|
C5555507|Appendix carcinoma that is resistant to treatment.|NCI|N|
C5555508|Appendix adenocarcinoma that is resistant to treatment.|NCI|N|
C5555509|The reemergence of pseudomyxoma peritonei after a period of remission.|NCI|N|
C5555510|Pseudomyxoma peritonei that is resistant to treatment.|NCI|N|
C5555511|A malignant digestive system neoplasm that has spread to nearby tissues or lymph nodes.|NCI|N|
C5555512|The reemergence of uterine corpus leiomyosarcoma after a period of remission, at or adjacent to the site of the original tumor.|NCI|N|
C5555517|A form of severe combined immunodeficiency (SCID) that presents with T-cell counts that are higher than typical for SCID, and variable signs and symptoms including: itchy, erythematous skin, alopecia, hepatosplenomegaly, lymphadenopathy, anemia, thyroid dysfunction and diarrhea. T-cell counts may initially be noted to be within normal ranges since some may ""leak"" through into the peripheral blood affecting proper measurement.|NCI|N|
C5555518|A reaction to the injection of a pharmacological or biological substance.|NCI|N|
C5555522|Loss of appetite associated with cancer or its treatment.|NCI|N|
C5555525|A finding of a mitotic rate less than one per square millimeter.|NCI|N|
C5555526|The reemergence of primary myelofibrosis after a period of remission.|NCI|N|
C5555527|The reemergence of acute bilineal leukemia after a period of remission.|NCI|N|
C5555528|Acute bilineal leukemia that is resistant to treatment.|NCI|N|
C5555529|A melanoma that has spread to the brain from its original site of growth, through the hematogenous route.|NCI|N|
C5555530|Ovarian squamous cell carcinoma that is resistant to treatment.|NCI|N|
C5555531|An extremely rare adenocarcinoma that arises from the ovary. It is characterized by the presence of signet ring malignant epithelial cells.|NCI|N|
C5555532|Lung adenocarcinoma that is resistant to treatment.|NCI|N|
C5555537|A rare, low-grade malignant stromal tumor that arises from the breast. It is characterized by the proliferation of atypical stromal spindle cells that surround benign tubules and ducts in a pericanalicular pattern. Mitotic activity is present. The tumor has a multinodular and infiltrative growth pattern and lacks the leaf-like architecture of phyllodes tumor. Wide excision with negative margins is the treatment of choice.|NCI|N|
C5555538|The reemergence of diffuse midline glioma, H3 K27M mutant, after a period of remission.|NCI|N|
C5555539|The reemergence of anaplastic (malignant) meningioma after a period of remission.|NCI|N|
C5555540|The reemergence of atypical meningioma after a period of remission.|NCI|N|
C5555541|A finding indicating that a patient with non-muscle invasive bladder carcinoma (NMIBC) is either unresponsive or intolerant to bacillus Calmette-Guerin (BCG) treatment.|NCI|N|
C5555542|The reemergence of a malignant choroid plexus neoplasm after a period of remission.|NCI|N|
C5555543|The reemergence of pineal parenchymal cell neoplasm after a period of remission.|NCI|N|
C5555544|A finding of diffuse large B-cell lymphoma activated B-cell type that has not been treated.|NCI|N|
C5555545|A rare, low-grade glioneuronal neoplasm characterized by a dinucleotide mutation at codon 385 of the PDGFR gene. It usually occurs in the septum pellucidum. It has also been described in the corpus callosum and periventricular white matter of the lateral ventricle. It has histologic features reminiscent of either dysembryoplastic neuroepithelial tumor or rosette-forming glioneuronal tumor. It is composed of oligodendrocyte-like cells in a prominent myxoid stroma.|NCI|N|
C5555546|A myxoid glioneuronal tumor that arises from the septum pellucidum.|NCI|N|
C5555549|A change in the amino acid residue at position 385 in the platelet-derived growth factor receptor alpha protein where lysine has been replaced by another amino acid.|NCI|N|
C5555550|A change in the amino acid residue at position 385 in the platelet-derived growth factor receptor alpha protein where lysine has been replaced by isoleucine.|NCI|N|
C5555551|A deletion of adenine-adenine and an insertion of thymine-thymine at positions 1153 and 1154 of the coding sequence of the PDGFRA gene.|NCI|N|
C5555552|A deletion of adenine-adenine and an insertion of thymine-cytosine at positions 1153 and 1154 of the coding sequence of the PDGFRA gene.|NCI|N|
C5555560|A low grade ovarian epithelial neoplasm characterized by the presence of atypical neoplastic serous and mucinous cells.|NCI|N|
C5555593|Basal ganglia calcification for which no underlying cause can be identified.|NCI|N|
C5555597|A change in the nucleotide sequence of the AXIN2 gene that either inhibits expression or results in the translation of an inactive axin-2 protein.|NCI|N|
C5555599|A change in the nucleotide sequence of the FBXW7 gene that either inhibits expression or results in the translation of an inactive F-box/WD repeat-containing protein 7.|NCI|N|
C5555601|The results of staining with D2C7 monoclonal antibody in a sample.|NCI|N|
C5555602|A finding of 1+ staining with D2C7 monoclonal antibody in a sample.|NCI|N|
C5555603|A finding of 2+ staining with D2C7 monoclonal antibody in a sample.|NCI|N|
C5555604|A laboratory test result indicating that 4-9 percent of the cells in a peripheral blood sample are immature mononuclear cells.|NCI|N|
C5555605|A finding of 3+ staining with D2C7 monoclonal antibody in a sample.|NCI|N|
C5555606|A change in the nucleotide sequence of the CYBB gene.|NCI|N|
C5555607|A morphologic finding indicating the presence of a cellular infiltrate exhibiting tubular, ductal, papillary, sieve-like, and solid patterns. Eosinophilic, colloid-like material may be present in the tubules.|NCI|N|
C5555608|An exceedingly rare adenocarcinoma that arises from the ovary and displays mesonephric differentiation. Some tumors are thought to derive from mesonephric duct (Wolffian duct) remnants. Others may have a Mullerian duct lineage.|NCI|N|
C5555609|An exceedingly rare adenocarcinoma that arises from the endometrium and displays mesonephric differentiation. Some tumors are thought to derive from mesonephric duct (Wolffian duct) remnants. Others may have a Mullerian duct lineage.|NCI|N|
C5555611|A change in the nucleotide sequence of the GSK3B gene.|NCI|N|
C5555612|A change in the nucleotide sequence of the GSK3B gene that that results in constitutive activation of both glycogen synthase kinase-3 beta and its downstream signaling pathways.|NCI|N|
C5555620|An aggressive carcinoma arising from the ovary. Most patients present with advanced disease. Microscopically, it is characterized by the presence of an undifferentiated carcinomatous component and a second component of either endometrioid carcinoma or, rarely, serous carcinoma.|NCI|N|
C5555622|An adenocarcinoma that arises from the ovary and is characterized by the presence of two or more adenocarcinoma components, most often endometrioid and clear cell.|NCI|N|
C5555623|A change in the nucleotide sequence of the BARD1 gene that either inhibits expression or results in the translation of an inactive BRCA1-associated RING domain protein 1.|NCI|N|
C5555625|A change in the nucleotide sequence of the CHEK1 gene that either inhibits expression or results in the translation of an inactive serine/threonine-protein kinase Chk1 protein.|NCI|N|
C5555626|A change in the nucleotide sequence of the CHEK2 gene that either inhibits expression or results in the translation of an inactive serine/threonine-protein kinase Chk2 protein.|NCI|N|
C5555627|A change in the nucleotide sequence of the ERCC1 gene.|NCI|N|
C5555628|A change in the nucleotide sequence of the ERCC1 gene that either inhibits expression or results in the translation of an inactive DNA excision repair protein ERCC-1.|NCI|N|
C5555629|A change in the nucleotide sequence of the ERCC2 gene that either inhibits expression or results in the translation of an inactive general transcription and DNA repair factor IIH helicase subunit XPD protein.|NCI|N|
C5555630|A change in the nucleotide sequence of the ERCC3 gene that either inhibits expression or results in the translation of an inactive TFIIH basal transcription factor complex helicase XPB subunit protein.|NCI|N|
C5555631|A change in the nucleotide sequence of the ERCC4 gene.|NCI|N|
C5555632|A change in the nucleotide sequence of the ERCC4 gene that either inhibits expression or results in the translation of an inactive DNA repair endonuclease XPF protein.|NCI|N|
C5555633|A change in the nucleotide sequence of the ERCC5 gene.|NCI|N|
C5555634|A change in the nucleotide sequence of the ERCC5 gene that either inhibits expression or results in the translation of an inactive DNA repair protein complementing XP-G cells protein.|NCI|N|
C5555635|A change in the nucleotide sequence of the MRE11 gene that either inhibits expression or results in the translation of an inactive double-strand break repair protein MRE11.|NCI|N|
C5555636|A change in the nucleotide sequence of the NBN gene that either inhibits expression or results in the translation of an inactive nibrin protein.|NCI|N|
C5555637|A change in the nucleotide sequence of the PRKDC gene that either inhibits expression or results in the translation of an inactive DNA-dependent protein kinase catalytic subunit protein.|NCI|N|
C5555638|A change in the nucleotide sequence of the RAD50 gene that either inhibits expression or results in the translation of an inactive DNA repair protein RAD50.|NCI|N|
C5555639|A change in the nucleotide sequence of the RAD51 gene that either inhibits expression or results in the translation of an inactive DNA repair protein RAD51 homolog 1.|NCI|N|
C5555640|A change in the nucleotide sequence of the RAD51C gene that either inhibits expression or results in the translation of an inactive DNA repair protein RAD51 homolog 3.|NCI|N|
C5555641|A benign, intermediate, or malignant neoplasm that arises from the ovary and is composed of neoplastic cells with smooth muscle differentiation.|NCI|N|
C5555642|A benign smooth muscle neoplasm arising from the ovary. It is usually characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. Variants with increased cellularity, increased mitotic activity, myxoid changes, or epithelioid morphology have also been reported.|NCI|N|
C5555643|A change in the nucleotide sequence of the RAD51D gene that either inhibits expression or results in the translation of an inactive DNA repair protein RAD51 homolog 4.|NCI|N|
C5555644|A smooth muscle neoplasm that arises from the ovary and cannot be reliably diagnosed as benign or malignant, because of the presence of ambiguous morphologic findings.|NCI|N|
C5555645|A change in the nucleotide sequence of the XRCC3 gene that either inhibits expression or results in the translation of an inactive DNA repair protein XRCC3.|NCI|N|
C5555646|A change in the nucleotide sequence of the LGR5 gene that that results in constitutive activation of both leucine-rich repeat-containing G-protein coupled receptor 5 and its downstream signaling pathways.|NCI|N|
C5555647|A change in the nucleotide sequence of the LRP6 gene.|NCI|N|
C5555648|A change in the nucleotide sequence of the LRP6 gene that that results in constitutive activation of both low-density lipoprotein receptor-related protein 6 and its downstream signaling pathways.|NCI|N|
C5555649|A change in the nucleotide sequence of the MPO gene.|NCI|N|
C5555651|A morphologic finding indicating the presence of a cellular infiltrate composed of large polygonal cells with abundant eosinophilic (lipid-poor) or pale and vacuolated (lipid-rich) cytoplasm and round nuclei, with a prominent nucleolus.|NCI|N|
C5555653|A change in the nucleotide sequence of the CYBA gene.|NCI|N|
C5555654|A change in the nucleotide sequence of the NCF4 gene.|NCI|N|
C5555655|An indication that the expression of NCF4 is lower than the normal range of values.|NCI|N|
C5555658|A change in the nucleotide sequence of the RNF43 gene that either inhibits expression or results in the translation of an inactive E3 ubiquitin-protein ligase RNF43 protein.|NCI|N|
C5555659|A change in the nucleotide sequence of the RAC2 gene.|NCI|N|
C5555660|A change in the nucleotide sequence of the RAC2 gene that either inhibits expression or results in the translation of an inactive Ras-related C3 botulinum toxin substrate 2 protein.|NCI|N|
C5555661|A change in the nucleotide sequence of the TCF7L2 gene.|NCI|N|
C5555662|A change in the nucleotide sequence of the TCF7L2 gene that either inhibits expression or results in the translation of an inactive transcription factor 7-like 2 protein.|NCI|N|
C5555663|A change in the nucleotide sequence of a gene in the BRCA family.|NCI|N|
C5555667|An exceedingly rare, high-grade variant of conventional osteosarcoma characterized by the presence of numerous osteoclast-like giant cells and variable amount of tumor osteoid.|NCI|N|
C5555671|Digestive system neuroendocrine tumor G2 that has spread from its original site of growth to another anatomic site.|NCI|N|
C5555673|A finding of prolymphocytic leukemia that has not been treated.|NCI|N|
C5555674|Digestive system neuroendocrine tumor G1 that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5555675|Digestive system neuroendocrine tumor G1 that is not amenable to surgical resection.|NCI|N|
C5555676|A malignant thoracic neoplasm that is not amenable to surgical resection.|NCI|N|
C5555677|Breast carcinoma with clinicopathologic, cytogenetic, and molecular findings that define a breast carcinoma as high risk.|NCI|N|
C5555678|A finding indicating that a patient with Barrett esophagus has a high risk of developing esophageal cancer.|NCI|N|
C5555679|Plexiform neurofibroma that is not amenable to surgical resection.|NCI|N|
C5555681|Acral lentiginous melanoma that has spread from its original site of growth to another anatomic site.|NCI|N|
C5555683|B-acute lymphoblastic leukemia with t(9;22)(q34.1;q11.2); BCR-ABL1 that is resistant to treatment.|NCI|N|
C5555686|A microscopic finding that the cells in the sample are tightly adhered to one another and distributed uniformly.|NCI|N|
C5555691|A change in the nucleotide sequence of at least one base of the final codon of a transcript.|NCI|N|
C5555692|A change in the nucleotide sequence of at least one base of the final codon of a incompletely annotated transcript.|NCI|N|
C5555696|The presence of macroscopically visible residual tumor in surgical margins in the parametrial region.|NCI|N|
C5555697|The presence of microscopically visible residual tumor in surgical margins in the parametrial region.|NCI|N|
C5555699|A microscopic finding where the cells in a sample are arranged, singly or in small clusters, demonstrate loose adhesion with one another and may not be distributed uniformly.|NCI|N|
C5555701|The anatomic site(s) surrounding and including a primary tumor.|NCI|N|
C5555706|Platinum-resistant ovarian carcinoma that is not amenable to surgical resection.|NCI|N|
C5555707|Platinum-resistant ovarian carcinoma that has spread from its original site of growth to another anatomic site.|NCI|N|
C5555708|Castration-resistant prostate carcinoma that is not amenable to surgical resection.|NCI|N|
C5555709|The reemergence of a malignant retroperitoneal neoplasm after a period of remission.|NCI|N|
C5555710|The reemergence of a malignant scrotal neoplasm after a period of remission.|NCI|N|
C5555711|The reemergence of a malignant abdominal neoplasm after a period of remission.|NCI|N|
C5555712|The reemergence of a malignant spermatic cord neoplasm after a period of remission.|NCI|N|
C5555715|An inherited condition caused by mutation(s) in the ALK or PHOX2B genes, encoding ALK tyrosine kinase receptor and paired mesoderm homeobox protein 2B, respectively. The condition is characterized by an increased risk of developing neuroblastoma.|NCI|N|
C5555716|An inherited condition caused by mutation(s) in the NOTCH3 or PDGFRB genes, encoding neurogenic locus notch homolog protein 3 and platelet-derived growth factor receptor beta, respectively. The condition is characterized by an increased risk of developing myofibroma.|NCI|N|
C5555717|An inherited condition caused by mutation(s) in the SMARCE1 gene, encoding SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily E member 1. The condition is characterized by an increased risk of developing meningioma.|NCI|N|
C5555718|An inherited condition caused by mutation(s) in the CDKN2A or CDK4 genes, encoding cyclin-dependent kinase inhibitor 2A and cyclin-dependent kinase 4, respectively. The condition is characterized by an increased risk of developing melanoma.|NCI|N|
C5555719|An inherited condition caused by mutation(s) in the MET gene, encoding hepatocyte growth factor receptor. The condition is characterized by an increased risk of developing papillary renal cell carcinoma.|NCI|N|
C5555720|A rare ovarian malignant tumor with neuroectodermal differentiation. It is characterized either by a small round cell proliferation or by neuronal or glial differentiation.|NCI|N|
C5555721|An ovarian mixed germ cell-sex cord-stromal tumor in which the neoplastic cellular infiltrate does not have the distinctive appearance of a gonadoblastoma.|NCI|N|
C5555730|A nucleotide substitution at position 98 of the coding sequence of the CTNNB1 gene where cytosine has been mutated to guanine.|NCI|N|
C5555731|A change in the amino acid residue at position 33 in the catenin beta-1 protein where serine has been replaced by cysteine.|NCI|N|
C5555732|A nucleotide substitution at position 98 of the coding sequence of the CTNNB1 gene where cytosine has been mutated to thymine.|NCI|N|
C5555733|A nucleotide substitution at position 97 of the coding sequence of the CTNNB1 gene where thymine has been mutated to cytosine.|NCI|N|
C5555734|A change in the amino acid residue at position 33 in the catenin beta-1 protein where serine has been replaced by proline.|NCI|N|
C5555735|A nucleotide substitution at position 110 of the coding sequence of the CTNNB1 gene where cytosine has been mutated to guanine.|NCI|N|
C5555736|A nucleotide substitution at position 122 of the coding sequence of the CTNNB1 gene where cytosine has been mutated to thymine.|NCI|N|
C5555737|A complex substitution where the nucleotide sequence at positions 122 and 123 of the coding sequence of the CTNNB1 gene has changed from cytosine-cytosine to thymine-thymine.|NCI|N|
C5555739|Breast carcinoma that has metastasized to a limited number of sites.|NCI|N|
C5555740|A finding of breast carcinoma that can be treated by surgery.|NCI|N|
C5555741|A nucleotide substitution at position 94 of the coding sequence of the CTNNB1 gene where guanine has been mutated to thymine.|NCI|N|
C5555742|A nucleotide substitution at position 94 of the coding sequence of the CTNNB1 gene where guanine has been mutated to adenine.|NCI|N|
C5555743|A change in the amino acid residue at position 32 in the catenin beta-1 protein where aspartic acid has been replaced by asparagine.|NCI|N|
C5555744|A nucleotide substitution at position 95 of the coding sequence of the CTNNB1 gene where adenine has been mutated to guanine.|NCI|N|
C5555747|A nucleotide substitution at position 100 of the coding sequence of the CTNNB1 gene where guanine has been mutated to adenine.|NCI|N|
C5555748|A nucleotide substitution at position 100 of the coding sequence of the CTNNB1 gene where guanine has been mutated to cytosine.|NCI|N|
C5555749|A change in the amino acid residue at position 34 in the catenin beta-1 protein where glycine has been replaced by arginine.|NCI|N|
C5555750|A nucleotide substitution at position 101 of the coding sequence of the CTNNB1 gene where guanine has been mutated to thymine.|NCI|N|
C5555751|A change in the amino acid residue at position 34 in the catenin beta-1 protein where glycine has been replaced by valine.|NCI|N|
C5555752|A nucleotide substitution at position 101 of the coding sequence of the CTNNB1 gene where guanine has been mutated to adenine.|NCI|N|
C5555753|A nucleotide substitution at position 3028 of the coding sequence of the MET gene where guanine has been mutated to adenine.|NCI|N|
C5555754|A nucleotide substitution at position 3260 of the coding sequence of the ALK gene where cytosine has been mutated to thymine.|NCI|N|
C5555755|A nucleotide substitution at position 2582 of the coding sequence of the EGFR gene where thymine has been mutated to cytosine.|NCI|N|
C5555757|A nucleotide substitution at position 2609 of the coding sequence of the EGFR gene where adenine has been mutated to guanine.|NCI|N|
C5555759|An epithelial neoplasm of Wolffian (mesonephric) origin arising from the broad ligament. Most tumors behave in a benign fashion.|NCI|N|
C5555760|An epithelial neoplasm of Wolffian (mesonephric) origin arising from the ovarian hilum. Most tumors behave in a benign fashion.|NCI|N|
C5555762|A rare benign lesion characterized by tumor-like enlargement of the ovaries due to fibroblastic proliferation with collagen deposition (fibromatosis) or stromal accumulation of edema fluid (massive edema). It presents in premenopausal patients, with menstrual abnormalities, abdominal pain, or androgenic manifestations. Most cases are unilateral. (WHO 2020)|NCI|N|
C5555763|An increased number of Leydig cells in the hilar region of the ovary. (WHO 2020)|NCI|N|
C5555765|Breast adenocarcinoma defined by low expression of HER2 (IHC1+ or IHC2+; FISH negative).|NCI|N|
C5555766|HER2-low breast adenocarcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5555767|A metastatic lesion that arises in an uninvolved contiguous area next to a cancer.|NCI|N|
C5555771|A benign well-circumscribed lesion arising from the mesentery. It is characterized by the presence of fibroblasts, lymphoplasmacytic infiltrates, collagenous stroma formation, psammoma bodies, and dystrophic calcifications.|NCI|N|
C5555773|A very rare sarcoma that arises from the peritoneum and is characterized by the presence of cells that resemble endometrial stromal cells.|NCI|N|
C5555827|A cyst that is located in the peritoneum and is lined by benign mesothelium.|NCI|N|
C5555835|A morphologic finding that refers to the replacement of peritoneal mesothelium with transitional epithelium.|NCI|N|
C5555839|A nodule in the peritoneum composed of benign histiocytes.|NCI|N|
C5555842|The presence of decidual tissue outside the uterus.|NCI|N|
C5555845|A carcinoma that has spread to the peritoneum from an adjacent or distal anatomic site.|NCI|N|
C5555847|A condition in which a sarcoma has spread extensively throughout the peritoneum.|NCI|N|
C5555848|A sarcoma that has spread to the peritoneum from an adjacent or distal anatomic site.|NCI|N|
C5555857|A group of genetic disorders associated with mutation(s) in genes that are constituents of the RAS signaling pathway. These disorders are characterized by distinct facial features, developmental delays, cardiac defects, growth delays, and feeding problems. Representative examples include: neurofibromatosis type 1, capillary malformation-arteriovenous malformation syndrome, cardiofaciocutaneous syndrome, Costello syndrome, multiple lentigines syndrome, and Noonan syndrome.|NCI|N|
C5555863|Chromophobe renal cell carcinoma that has spread to nearby tissues or lymph nodes.|NCI|N|
C5555869|A rare inherited epidermolysis bullosa with characteristics of aplasia cutis congenita on the extremities, leaving behind hypopigmentation and atrophy in a whirled pattern. Generalised blistering persists during childhood and heals with cutaneous and follicular atrophy, linear and stellate scars and hypopigmentation. Skin fragility decreases with adulthood. Adult patients exhibit dyspigmentation and atrophy of the skin, scars, follicular atrophoderma, sparse body hair, progressive diffuse alopecia of the scalp, diffuse palmoplantar keratoderma, and nail changes. Dilative cardiomyopathy with heart failure complicates the disease course in young adulthood or later and may have lethal outcome. Ultra-structurally, intraepidermal splitting appears at the level of the basal keratinocytes above the hemidesmosomes.|SNOMEDCT_US|N|
C5555875|Histologic transformation of a B-cell lymphoma, unclassifiable, with features intermediate between diffuse large B-cell lymphoma and classic Hodgkin lymphoma to an aggressive diffuse large B-cell lymphoma.|NCI|N|
C5555878|A lesion that extends over the margins of a contiguous lesion.|NCI|N|
C5555883|A rare benign lesion that arises in the fallopian tubes of postpartum women. It is characterized by intratubal luminal papillary proliferation lined by columnar cells with abundant eosinophilic cytoplasm. Significant cytologic atypia and mitoses are absent. Mucinous and oncocytic metaplasia may be present.|NCI|N|
C5555910|The position on a scale to assess the response to some kind of stimulus.|NCI|N|
C5555918|A cytogenetic abnormality that refers to the translocation of involving a member of the FET (FUS, EWSR1 or TAF15) gene family.|NCI|N|
C5555920|A genetic finding indicating that the Oncotype DX breast cancer recurrence score for a sample was less than or equal to 18.|NCI|N|
C5555921|A blood concentration of prostate specific antigen less than 40 ng/mL.|NCI|N|
C5555922|A blood concentration of prostate specific antigen greater than or equal to 40 ng/mL.|NCI|N|
C5555926|A change in the nucleotide sequence of the G6PC3 gene.|NCI|N|
C5555927|A change in the nucleotide sequence of the SLC37A4 gene.|NCI|N|
C5555928|A change in the nucleotide sequence of the SLC37A4 gene that either inhibits expression or results in the translation of an inactive glucose-6-phosphate exchanger SLC37A4 protein.|NCI|N|
C5555930|A benign or malignant neoplasm that affects the cerebellar peduncle.|NCI|N|
C5555931|An extremely rare, well-differentiated squamous cell carcinoma that arises from the esophagus. It is characterized by the presence of hyperkeratosis, acanthosis, dyskeratosis, keratin-filled cysts, koilocyte-like cells, intraepithelial neutrophils, and focal cytologic atypia.|NCI|N|
C5555932|A cyst that contains keratin.|NCI|N|
C5555933|A morphologic finding indicating the presence of neutrophils within neoplastic or non-neoplastic epithelium.|NCI|N|
C5555934|A variant of well-differentiated squamous cell carcinoma arising from the oral cavity. It is characterized by the presence of minimal cytological atypia, multiple keratin-filled crypts, and intraepithelial neutrophils.|NCI|N|
C5555939|A response indicating that smoking is not allowed in any work areas.|NCI|N|
C5555940|A response indicating that smoking is not allowed in some work areas.|NCI|N|
C5555941|A response indicating that smoking is allowed in all work areas.|NCI|N|
C5555943|Indicates that a person has attended technical school.|NCI|N|
C5555944|A finding of 1+ staining in a sample, generally indicating weak staining|NCI|N|
C5555945|A finding of 2+ staining in a sample, generally indicating moderate staining.|NCI|N|
C5555946|A finding of 3+ staining in a sample, generally indicating strong staining.|NCI|N|
C5555949|A leiomyoma that arises from the broad or other uterine ligaments.|NCI|N|
C5555950|A leiomyoma that arises from the broad ligament.|NCI|N|
C5555951|A rare leiomyosarcoma that arises from the broad ligament.|NCI|N|
C5555952|An epithelial neoplasm of Wolffian (mesonephric) origin arising from a uterine ligament. Most tumors behave in a benign fashion.|NCI|N|
C5555953|A rare neoplasm that arises from the broad or other uterine ligaments and shows ependymal differentiation.|NCI|N|
C5555954|A rare neoplasm that arises from the broad ligament and shows ependymal differentiation.|NCI|N|
C5555955|A gastrointestinal stromal tumor that through the process of dedifferentiation, results in an uncommon phenotype. Dedifferentiation in the context of GIST, may manifest as loss of CD117 expression and regression from specialized tissue to a more anaplastic/pleomorphic appearance, high nuclear atypia, high mitotic activity, and necrosis.|NCI|N|
C5556266|Combat Exposure Scale CES0101 Original Result - 1-3 times.|NCI|N|
C5556267|Combat Exposure Scale CES0101 Original Result - 4-12 times.|NCI|N|
C5556268|Combat Exposure Scale CES0102 Original Result - <1 month.|NCI|N|
C5556269|Combat Exposure Scale CES0102 Original Result - 1-3 months.|NCI|N|
C5556270|Combat Exposure Scale CES0102 Original Result - 4-6 months.|NCI|N|
C5556271|Combat Exposure Scale CES0102 Original Result - 7+ months.|NCI|N|
C5556272|Combat Exposure Scale CES0103 Original Result - 13-25 times.|NCI|N|
C5556273|Combat Exposure Scale CES0103 Original Result - 26+times.|NCI|N|
C5556274|Combat Exposure Scale CES0104 Original Result - 1-25%.|NCI|N|
C5556275|Combat Exposure Scale CES0104 Original Result - 76% or more.|NCI|N|
C5556290|Ovarian carcinoma characterized by the absence of microsatellite instability.|NCI|N|
C5556291|Microsatellite stable ovarian carcinoma that has spread from its original site of growth to another anatomic site.|NCI|N|
C5556292|Microsatellite stable ovarian carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5556293|Endometrial carcinoma characterized by the absence of microsatellite instability.|NCI|N|
C5556294|Microsatellite stable endometrial carcinoma that has spread from its original site of growth to another anatomic site.|NCI|N|
C5556295|Microsatellite stable endometrial carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5556296|The reemergence of gangliocytoma after a period of remission.|NCI|N|
C5556303|Greater than 90% necrosis.|NCI|N|
C5556308|Less than or equal to 90% necrosis.|NCI|N|
C5556309|More than one metastatic area.|NCI|N|
C5556310|One metastatic area.|NCI|N|
C5556326|Primary cutaneous T-cell non-Hodgkin lymphoma that has spread from its original site of growth to nearby tissues.|NCI|N|
C5556330|A low-grade cerebral tumor associated with seizures and in many cases refractory epilepsy. It usually occurs in the second and third decades of life. It is characterized by the presence of oligodendroglioma-like components. It may also contain astrocytic components. MAPK pathway-activating genetic alterations play a role in the development of this tumor. Causative gene alterations include mutations resulting in the expression of BRAF p.V600E and gene fusions involving FGFR2 or FGFR3 genes. IDH gene mutations and 1p/19q codeletion are not present.|NCI|N|
C5556333|A change in the nucleotide sequence of the CHD6 gene.|NCI|N|
C5556334|A variation in the amino acid sequence of chromodomain-helicase-DNA-binding protein 6.|NCI|N|
C5556335|A nucleotide substitution at position 4800 of the coding sequence of the CHD6 gene where cytosine has been mutated to guanine.|NCI|N|
C5556336|A change in the amino acid residue at position 1600 in the chromodomain-helicase-DNA-binding protein 6 where isoleucine has been replaced by methionine.|NCI|N|
C5556338|The reemergence of myxoid glioneuronal tumor after a period of remission.|NCI|N|
C5556339|The reemergence of multinodular and vacuolated neuronal tumor following a period of remission.|NCI|N|
C5556340|The reemergence of polymorphous low-grade neuroepithelial tumor of the young after a period of remission.|NCI|N|
C5556342|Thyroid gland medullary carcinoma that is resistant to treatment.|NCI|N|
C5556344|Colon carcinoma that is not amenable to surgical resection.|NCI|N|
C5556345|A glioma that arises from the tectum mesenchephali.|NCI|N|
C5556346|The reemergence of tectal glioma after a period of remission.|NCI|N|
C5556352|A score of greater than or equal to 6 using the Zaidi criteria for recurrence risk for resected pancreatic neuroendocrine tumors. This score correlates with high risk of recurrence.|NCI|N|
C5556421|A change in the nucleotide sequence of the PAX2 gene.|NCI|N|
C5556422|A change in the nucleotide sequence of the PAX2 gene that either inhibits expression or results in the translation of an inactive form of paired box protein Pax-2.|NCI|N|
C5556429|Endometrial endometrioid adenocarcinoma exhibiting 50% or less solid non-glandular, non-squamous growth.|NCI|N|
C5556431|An endometrial endometrioid adenocarcinoma characterized by mutations in the exonuclease domain of the DNA polymerase epsilon (POLE) gene that result in an ultra-mutated tumor phenotype.|NCI|N|
C5556432|An endometrial endometrioid adenocarcinoma characterized by mismatch repair (MMR) deficiency caused by inactivating methylation or less frequently mutation of an MMR gene (MLH1, PMS2, MSH2, or MSH6).|NCI|N|
C5556433|An endometrial endometrioid adenocarcinoma characterized by the presence of p53 gene mutations.|NCI|N|
C5556434|An endometrial endometrioid adenocarcinoma characterized by the absence of POLE gene mutations, mismatch repair (MMR) deficiency, and p53 gene mutations.|NCI|N|
C5556446|Non-muscle invasive bladder urothelial carcinoma that is resistant to treatment.|NCI|N|
C5556448|A very rare, low-grade midline brain neoplasm that affects the septum pellucidum. It is characterized by similar histological features to those found in dysembryoplastic neuroepithelial tumor, but does not display multinodularity. It usually manifests with symptoms related to increased intracranial pressure. Epilepsy has been reported in approximately one third of patients. PDGFRA gene mutations have been identified in the majority of patients. Alterations in FGFR1 and NF1 genes have also been reported. BRAF mutations which represent the most common molecular alteration found in cortical dysembryoplastic neuroepithelial tumor, were absent in this rare group of midline tumors.|NCI|N|
C5556449|A rare mucinous adenocarcinoma arising from intestinal metaplasia of the endometrium.|NCI|N|
C5556450|A rare mucinous adenocarcinoma arising from gastric metaplasia of the endometrium.|NCI|N|
C5556451|A molecular abnormality indicating rearrangement of the HMGA1 gene.|NCI|N|
C5556452|A molecular abnormality indicating rearrangement of the HMGA2 gene.|NCI|N|
C5556453|A smooth muscle tumor of uncertain malignant potential that arises from the uterine corpus and is composed of neoplastic spindle cells.|NCI|N|
C5556454|A smooth muscle tumor of uncertain malignant potential that arises from the uterine corpus and displays myxoid changes.|NCI|N|
C5556455|A smooth muscle tumor of uncertain malignant potential that arises from the uterine corpus and is composed of neoplastic epithelioid cells.|NCI|N|
C5556456|A plant-based diet that focuses on natural foods that are not heavily processed.|NCI|N|
C5556457|A rare inflammatory myofibroblastic tumor that arises from the uterine corpus.|NCI|N|
C5556458|A rare uterine corpus malignant small round cell tumor with neuroglial differentiation. The prognosis is poor.|NCI|N|
C5556462|A seizure that is not associated with fever.|NCI|N|
C5556463|The initial pressure of cerebrospinal fluid when sampled via lumbar puncture. It is a surrogate measurement of intracranial pressure.|NCI|N|
C5556494|A bladder urothelial carcinoma invading into the bladder muscularis propria.|NCI|N|
C5556495|A bladder urothelial carcinoma that has focally invaded into the bladder muscularis propria.|NCI|N|
C5556496|Urothelial carcinoma characterized by the presence of neoplastic epithelial cells with high grade features.|NCI|N|
C5556497|Renal pelvis urothelial carcinoma characterized by the presence of neoplastic epithelial cells with high grade features.|NCI|N|
C5556498|Bladder urothelial carcinoma characterized by the presence of neoplastic epithelial cells with high grade features.|NCI|N|
C5556500|An indication that an individual had pediatric multisystem inflammatory syndrome.|NCI|N|
C5556502|Impulsive, disruptive, or aggressive behaviors that typically emerge in childhood or early adolescence and are associated with significant functional impairment. Child and adolescent externalizing disorders include conduct disorder, oppositional defiant disorder, and attention-deficit/hyperactivity disorder.|NCI|N|
C5556503|A loss of the sensation of feeling on one side of the body.|NCI|N|
C5556504|The measured pressure in the spinal canal after cerebrospinal fluid collection during lumbar puncture.|NCI|N|
C5556513|A gestational trophoblastic tumor characterized by the presence of two or three histological types of gestational trophoblastic tumor, including choriocarcinoma, placental site trophoblastic tumor, and epithelioid trophoblastic tumor.|NCI|N|
C5556514|The spread of abnormal molar chorionic villi from an invasive hydatidiform mole in the uterine cavity to other anatomic sites, usually the vaginal wall and pelvis.|NCI|N|
C5556544|A rare sinonasal carcinoma characterized by the presence of a papillary architecture and bland morphological features similar to the Schneiderian papilloma, a pushing pattern of stromal invasion, and an increased risk of local recurrence.|NCI|N|
C5556563|Erythema of the mucus membranes lining the part of the pharynx located between the soft palate and the upper portion of the epiglottis.|NCI|N|
C5556595|Acneiform dermatitis caused by epidermal growth factor receptor inhibitory therapy in a dose-dependent manner.|NCI|N|
C5556605|A change in the nucleotide sequence of the GSTM1 gene.|NCI|N|
C5556606|A change in the nucleotide sequence of the GSTP1 gene.|NCI|N|
C5556608|A change in the nucleotide sequence of the RFC5 gene.|NCI|N|
C5556609|A change in the nucleotide sequence of the EXO1 gene.|NCI|N|
C5556610|A change in the nucleotide sequence of the SSBP1 gene.|NCI|N|
C5556611|A change in the nucleotide sequence of the SSBP1 gene that either inhibits expression or results in the translation of an inactive single-stranded DNA-binding protein, mitochondrial protein.|NCI|N|
C5556612|A change in the nucleotide sequence of the RFC4 gene.|NCI|N|
C5556613|A change in the nucleotide sequence of the RFC3 gene.|NCI|N|
C5556614|A change in the nucleotide sequence of the PCNA gene.|NCI|N|
C5556615|A change in the nucleotide sequence of the RPA3 gene.|NCI|N|
C5556617|A change in the nucleotide sequence of the RFC1 gene.|NCI|N|
C5556618|A change in the nucleotide sequence of the RFC2 gene.|NCI|N|
C5556620|A molecular genetic abnormality indicating the presence of multiple copies of the CSF1R gene.|NCI|N|
C5556621|A change in the nucleotide sequence of the RPA2 gene.|NCI|N|
C5556622|A mutation in the ALK gene that is associated with an increased risk of disease.|NCI|N|
C5556625|A change in the nucleotide sequence of the MRAS gene.|NCI|N|
C5556626|A change in the nucleotide sequence of the MAP3K8 gene.|NCI|N|
C5556627|A change in the nucleotide sequence of the PPP1CB gene.|NCI|N|
C5556628|A change in the nucleotide sequence of the SOS1 gene.|NCI|N|
C5556629|A change in the nucleotide sequence of the RIT1 gene.|NCI|N|
C5556630|A change in the nucleotide sequence of the SPRED1 gene.|NCI|N|
C5556631|A change in the nucleotide sequence of the SHOC2 gene.|NCI|N|
C5556632|A change in the nucleotide sequence of the LZTR1 gene.|NCI|N|
C5556633|A change in the nucleotide sequence of the AKT3 gene that that results in constitutive activation of RAC-gamma serine/threonine-protein kinase and its downstream signaling pathways.|NCI|N|
C5556634|A change in the nucleotide sequence of the AKT2 gene that that results in constitutive activation of RAC-beta serine/threonine-protein kinase and its downstream signaling pathways.|NCI|N|
C5556635|A change in the nucleotide sequence of the RET gene that is associated with increased risk of disease.|NCI|N|
C5556636|A change in the nucleotide sequence of the ROS1 gene that is associated with increased risk of disease.|NCI|N|
C5556660|A finding indicating that there is no information regarding the p16 immunohistochemistry or HPV testing status in a tumor sample.|NCI|N|
C5556661|Cervical squamous cell carcinoma in which information on the p16 immunohistochemistry or HPV testing status is not available.|NCI|N|
C5556662|A cervical squamous cell carcinoma not associated with human papillomavirus infection.|NCI|N|
C5556663|Cervical adenocarcinoma in situ associated with human papillomavirus infection.|NCI|N|
C5556664|Cervical adenocarcinoma in situ not associated with human papillomavirus infection.|NCI|N|
C5556666|Cervical adenocarcinoma not associated with human papillomavirus infection.|NCI|N|
C5556669|A morphologic finding indicating the presence of stratified columnar cells with intracytoplasmic mucin-containing vacuoles in a tumor sample.|NCI|N|
C5556670|A rare, distinct form of invasive cervical mucinous adenocarcinoma associated with human papillomavirus infection. It is characterized by the presence of stratified, immature epithelial cells containing varying quantities of intracytoplasmic mucin.|NCI|N|
C5556673|A rare, invasive adenocarcinoma that arises from the cervix and is characterized by a micropapillary architecture.|NCI|N|
C5556675|A morphologic finding indicating the presence of intracytoplasmic mucin in more than 50% of malignant cells in a tumor sample.|NCI|N|
C5556676|A morphologic finding indicating the presence of intracytoplasmic mucin in 50% or less of malignant cells in a tumor sample.|NCI|N|
C5556677|A cervical mucinous adenocarcinoma in which more than 50% of malignant cells contain intracytoplasmic mucin. There is no evidence of gastric, intestinal, or signet ring cell differentiation.|NCI|N|
C5556678|A cervical adenocarcinoma that cannot be classified by WHO criteria or International Endocervical Adenocarcinoma Criteria and Classification (IECC).|NCI|N|
C5556679|A thymic neuroendocrine neoplasm that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5556680|A thymic neuroendocrine neoplasm that is not amenable to surgical resection.|NCI|N|
C5556681|A malignant neoplasm that arises from the brain that has spread from its original site of growth to nearby tissues or lymph nodes.|NCI|N|
C5556682|Desmoplastic small round cell tumor that has spread from its original site of growth to nearby tissues or lymph nodes.|NCI|N|
C5556683|Glioma that has spread from its original site of growth to nearby tissues or lymph nodes.|NCI|N|
C5556684|A rare carcinoma that arises from the cervix. It is characterized by the presence of squamous cells, mucus producing cells, and cells of intermediate type.|NCI|N|
C5556685|A rare germ cell tumor that arises from the cervix. Examples include mature cystic teratoma, yolk sac tumor, and choriocarcinoma.|NCI|N|
C5556686|A rare papillary neoplasm that grows within and is limited to the duct system of the minor salivary glands. This category includes papillary cystadenoma, ductal papilloma (including the intraductal and inverted variants), sialadenoma papilliferum, and intraductal papillary mucinous neoplasm.|NCI|N|
C5556687|A rare, low-grade epithelial neoplasm with ductal differentiation that grows within and is limited to the duct system of the minor salivary glands. It is characterized by a proliferation of mucin-producing cells within the minor salivary gland ducts, intraductal accumulation of mucin, and a papillary growth pattern. Cytologic and architectural atypia and mitotic activity are present. AKT1 gene mutations have been identified in the majority of cases. Morphologically it resembles the intraductal papillary-mucinous neoplasms of the pancreas.|NCI|N|
C5556690|A neuroendocrine carcinoma that arises from the gastroesophageal junction and is not amenable to surgical resection.|NCI|N|
C5556692|A rare myofibroma that occurs in adults.|NCI|N|
C5556694|Quantified or qualified ranges to classify radiographic findings.|NCI|N|
C5556695|Cutaneous squamous cell carcinoma of the head and neck that has spread from its original site of growth to nearby tissues or lymph nodes.|NCI|N|
C5556696|Medulloblastoma, WNT-activated that is resistant to treatment.|NCI|N|
C5556697|The reemergence of medulloblastoma, WNT-activated after a period of remission.|NCI|N|
C5556698|Mucosal melanoma that is resistant to treatment.|NCI|N|
C5556699|Non-cutaneous melanoma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5556700|Mucosal melanoma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5556701|Acute myeloid leukemia with myelodysplasia-related changes that is resistant to treatment.|NCI|N|
C5556703|A general term that refers to a TNM finding of a primary tumor limited to the site of growth. The definition of T1b3 TNM finding depends on the specific type of cancer that it refers to; for example, for carcinoma of the cervix uteri it refers to a primary tumor that is strictly confined to the cervix (extension to the corpus should be disregarded) that is greater than 4 cm in greatest dimension.|NCI|N|
C5556704|Invasive cervical carcinoma measuring more than 4.0 cm in greatest dimension. (from AJCC 9th Ed.)|NCI|N|
C5556714|A squamous cell carcinoma that arises from the vagina and is caused by human papillomavirus infection.|NCI|N|
C5556715|Vaginal squamous cell carcinoma not associated with human papillomavirus infection.|NCI|N|
C5556716|Vaginal adenocarcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5556717|Vaginal squamous cell carcinoma, not otherwise specified that that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5556718|Bronchogenic carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5556719|The reemergence of bronchogenic carcinoma after a period of remission.|NCI|N|
C5556720|HER2-positive breast carcinoma that has spread from the original site of growth to another anatomic site.|NCI|N|
C5556721|HER2-positive breast carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5556727|A change in the amino acid residue at position 35 in histone H3 where glycine has been replaced by another amino acid.|NCI|N|
C5556728|A change in the amino acid residue at position 35 in histone H3.3 protein where glycine has been replaced by another amino acid.|NCI|N|
C5556731|A molecular abnormality indicating rearrangement of the MYB gene.|NCI|N|
C5556732|A molecular abnormality indicating rearrangement of the MYBL1 gene.|NCI|N|
C5556733|A point mutation in the KRAS gene that encodes an amino acid substitution in the GTPase KRas protein.|NCI|N|
C5556734|The presence of mutations in both alleles of the RB1 gene.|NCI|N|
C5556735|The presence of mutations in only one allele of the RB1 gene.|NCI|N|
C5556736|A cytogenic abnormality that refers to any structural irregularity in chromosome 9.|NCI|N|
C5556737|An adenocarcinoma that arises from the vagina and is caused by human papillomavirus infection.|NCI|N|
C5556739|Vaginal mucinous adenocarcinoma characterized by the presence of gastric differentiation.|NCI|N|
C5556740|A vaginal mucinous adenocarcinoma that resembles the large intestinal adenocarcinoma.|NCI|N|
C5556741|A rare vaginal adenocarcinoma arising from the Skene gland. It is characterized by morphological and immunohistochemical features similar to prostate adenocarcinoma.|NCI|N|
C5556742|A rare urethral adenocarcinoma arising from the Skene gland. It is characterized by morphological and immunohistochemical features similar to prostate adenocarcinoma.|NCI|N|
C5556744|A molecular genetic abnormality indicating the presence of a mutation in exon 18 of the EGFR gene that results in constitutive epidermal growth factor receptor-dependent signal transduction and activation of downstream signaling pathways.|NCI|N|
C5556745|A molecular genetic abnormality indicating the presence of a mutation in exon 19 of the EGFR gene that results in constitutive epidermal growth factor receptor-dependent signal transduction and activation of downstream signaling pathways.|NCI|N|
C5556746|A molecular genetic abnormality indicating the presence of a mutation in exon 20 of the EGFR gene that results in constitutive epidermal growth factor receptor-dependent signal transduction and activation of downstream signaling pathways.|NCI|N|
C5556747|A finding about one or more characteristics of female reproductive system cancer, following the rules of the TNM AJCC v9 classification system. The AJCC v9 changes align with the International Federation of Gynecology and Obstetrics (FIGO) staging.|NCI|N|
C5556748|A finding about one or more characteristics of cervical cancer, following the rules of the TNM AJCC v9 classification system. This classification system applies to carcinomas and carcinosarcomas. It does not apply to sarcomas, lymphomas, and melanomas. (from AJCC 9th Ed.)|NCI|N|
C5556749|A clinical finding about one or more characteristics of cervical cancer, following the rules of the TNM AJCC v9 classification system.|NCI|N|
C5556751|A pathologic finding about one or more characteristics of cervical cancer, following the rules of the TNM AJCC v9 classification system.|NCI|N|
C5556752|A clinical finding about one or more characteristics of cervical cancer, following the rules of the TNM AJCC v9 classification system as they pertain to distant metastases.|NCI|N|
C5556753|A pathologic finding about one or more characteristics of cervical cancer, following the rules of the TNM AJCC v9 classification system as they pertain to distant metastases.|NCI|N|
C5556754|Cervical cancer in which there is no evidence of distant metastasis. (from AJCC 9th Ed.)|NCI|N|
C5556755|A molecular genetic abnormality indicating the presence of a mutation in exon 21 of the EGFR gene that results in constitutive epidermal growth factor receptor-dependent signal transduction and activation of downstream signaling pathways.|NCI|N|
C5556756|A pathologic finding about one or more characteristics of cervical cancer, following the rules of the TNM AJCC v9 classification system as they pertain to staging of the primary tumor.|NCI|N|
C5556758|A change in the amino acid residue at position 768 in the epidermal growth factor receptor protein where serine has been replaced by another amino acid.|NCI|N|
C5556761|A change in the nucleotide sequence of the RECQL gene.|NCI|N|
C5556762|A change in the nucleotide sequence of the RECQL gene that is associated with increased risk of disease.|NCI|N|
C5556763|A semiquantitative genetic finding indicating that the tumor mutation burden is greater than or equal to 10 mutations per megabase of sequenced DNA.|NCI|N|
C5556766|Clear cell sarcoma of soft tissue that is resistant to treatment.|NCI|N|
C5556767|The reemergence of clear cell sarcoma of soft tissue after a period of remission.|NCI|N|
C5556771|The reemergence of T-cell large granular lymphocyte leukemia after a period of remission.|NCI|N|
C5556775|Partial or complete paralysis of the optic nerve.|NCI|N|
C5556791|Vaginal adenosquamous carcinoma that has spread from its original site of growth to another anatomic site.|NCI|N|
C5556792|Vaginal adenosquamous carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5556794|Vaginal squamous cell carcinoma that has spread from its original site of growth to another anatomic site.|NCI|N|
C5556795|Vaginal squamous cell carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5556796|Cervical squamous cell carcinoma that is resistant to treatment.|NCI|N|
C5556797|Cervical squamous cell carcinoma, not otherwise specified, that is resistant to treatment.|NCI|N|
C5556798|Cervical adenocarcinoma that is resistant to treatment.|NCI|N|
C5556805|The reemergence of primary cutaneous anaplastic large cell lymphoma after a period of remission.|NCI|N|
C5556806|Primary cutaneous anaplastic large cell lymphoma that is resistant to treatment.|NCI|N|
C5556808|The reemergence of primary systemic anaplastic large cell lymphoma, ALK-positive after a period of remission.|NCI|N|
C5556809|Primary systemic anaplastic large cell lymphoma, ALK-positive that is resistant to treatment.|NCI|N|
C5556834|A rare neoplasm that arises from the salivary gland and consists of at least two histologically distinct types of tumor within the same topographic location. The tumor components can be either benign or malignant.|NCI|N|
C5556835|A rare carcinoma that arises from the salivary gland and consists of at least two histologically distinct types of carcinoma within the same topographic location. The carcinoma components usually are adenoid cystic carcinoma, epithelial-myoepithelial carcinoma, and/or salivary duct carcinoma. Adenoid cystic carcinoma is commonly the predominant component.|NCI|N|
C5556837|Triple-negative breast carcinoma that has not spread beyond the breast or axillary lymph nodes.|NCI|N|
C5556868|A carcinoma that arises from the jejunum.|NCI|N|
C5556869|A squamous cell carcinoma that arises from the parotid or submandibular gland.|NCI|N|
C5556870|A malignant neoplasm that arises from the epithelium of any part of the female reproductive system. Representative examples include ovarian carcinoma, cervical carcinoma, and endometrial carcinoma.|NCI|N|
C5556897|A malignant neoplasm that arises from the epithelium of any part of the male reproductive system. Representative examples include prostate carcinoma and penile carcinoma.|NCI|N|
C5556898|A malignant neoplasm that arises from the epithelium of any part of the urinary system. Representative examples include kidney carcinoma and bladder carcinoma.|NCI|N|
C5556905|An exceedingly rare Hodgkin lymphoma that arises from the bone, without lymph node or other extranodal involvement.|NCI|N|
C5556907|A mantle cell lymphoma that manifests initially in the parotid gland.|NCI|N|
C5556917|Continued presence of an adverse event after decrease or change in dose, or withdrawal of the product/drug.|NCI|N|
C5556918|Partial or complete abatement of an adverse event after decrease or change in dose, or withdrawal of the product/drug.|NCI|N|
C5556919|The dechallenge response to the drug/product is not relevant in the current context.|NCI|N|
C5556920|The dechallenge response to the drug/product is not known, observed, recorded|NCI|N|
C5556921|Failure of the product/drug, when reintroduced, to produce signs or symptoms similar to those observed when the product/drug was previously used.|NCI|N|
C5556922|Recurrence of similar or new signs or symptoms upon reintroduction of the product/drug.|NCI|N|
C5556923|The rechallenge response to the drug/product is not relevant in the current context.|NCI|N|
C5556924|The rechallenge response to the drug/product is not known, observed, recorded|NCI|N|
C5556992|The anatomical location of the lesion that has been determined to be the primary lesion.|NCI|N|
C5557008|An extrapolation of the modification of an amino acid based on sequence analysis of a genetic variation.|NCI|N|
C5557009|An extrapolation of the modification of a coding sequence based on sequence analysis of a genetic variation.|NCI|N|
C5557092|A measurement of the amount or proportion of cells that have a staining intensity of 0, based on the H Score scoring system, in a biological specimen. (McCarty KS Jr, Miller LS, Cox EB, et al. Estrogen receptor analyses: correlation of biochemical and immunohistochemical methods using monoclonal antireceptor antibodies. Arch Pathol Lab Med. 1985;109(8):716-721).|NCI|N|
C5557093|A measurement of the amount or proportion of cells that have a staining intensity of 1+, based on the H Score scoring system, in a biological specimen. (McCarty KS Jr, Miller LS, Cox EB, et al. Estrogen receptor analyses: correlation of biochemical and immunohistochemical methods using monoclonal antireceptor antibodies. Arch Pathol Lab Med. 1985;109(8):716-721).|NCI|N|
C5557094|A measurement of the amount or proportion of cells that have a staining intensity of 2+, based on the H Score scoring system, in a biological specimen. (McCarty KS Jr, Miller LS, Cox EB, et al. Estrogen receptor analyses: correlation of biochemical and immunohistochemical methods using monoclonal antireceptor antibodies. Arch Pathol Lab Med. 1985;109(8):716-721).|NCI|N|
C5557095|A measurement of the amount or proportion of cells that have a staining intensity of 3+, based on the H Score scoring system, in a biological specimen. (McCarty KS Jr, Miller LS, Cox EB, et al. Estrogen receptor analyses: correlation of biochemical and immunohistochemical methods using monoclonal antireceptor antibodies. Arch Pathol Lab Med. 1985;109(8):716-721).|NCI|N|
C5557096|An evaluation of the amount or degree of steatosis (fatty tissue) in a biological specimen.|NCI|N|
C5557114|The observed concentration at the end of the infusion.|NCI|N|
C5557141|The persistence of placental material after pregnancy.|NCI|N|
C5557142|The persistence of implantation site material after pregnancy.|NCI|N|
C5557143|A finding that generally has features of placental remnants and implantation site remnants.|NCI|N|
C5557144|An increase in eosinophilic cytoplasmic droplets that appear glassy or translucent.|NCI|N|
C5557147|A term that refers to the staging of cervical cancer according to the American Joint Committee on Cancer, 9th edition. This staging system applies to carcinomas and carcinosarcomas. It does not apply to sarcomas, lymphomas, and melanomas. Sarcomas are staged according to the corpus uteri classification for sarcomas. Lymphomas are staged according to Hodgkin and non-Hodgkin lymphoma classification. Melanomas are not staged. (from AJCC 9th Ed.)|NCI|N|
C5557149|Stage I includes: T1, N0, M0. T1: Tumor strictly confined to the cervix (extension to corpus should be disregarded). N0: No regional lymph node metastasis. M0: No distant metastasis. (from AJCC 9th Ed.)|NCI|N|
C5557150|Stage IA includes: T1a, N0, M0. T1a: Tumor that can be diagnosed only by microscopy with maximum depth of invasion equal or less than 5 mm. N0: No regional lymph node metastasis. M0: No distant metastasis. (from AJCC 9th Ed.)|NCI|N|
C5557152|Stage IA1 includes: T1a1, N0, M0. T1a1: Tumor with measured stromal invasion equal or less than 3 mm in depth. N0: No regional lymph node metastasis. M0: No distant metastasis. (from AJCC 9th Ed.)|NCI|N|
C5557153|Stage IA2 includes: T1a2, N0, M0. T1a2: Tumor with measured stromal invasion of more than 3.0 mm and equal or less than 5.0 mm in depth. N0: No regional lymph node metastasis. M0: No distant metastasis. (from AJCC 9th Ed.)|NCI|N|
C5557155|Stage IB includes: T1b, N0, M0. T1b: Tumor with measured deepest invasion more than 5 mm (greater than FIGO stage IA); lesion limited to the cervix uteri with size measured by maximum tumor diameter. Note: The involvement of vascular/lymphatic spaces should not change the staging. The lateral extent of the lesion is no longer considered. N0: No regional lymph node metastasis. M0: No distant metastasis. (from AJCC 9th Ed.)|NCI|N|
C5557156|Stage IB1 includes: T1b1, N0, M0. T1b1: Tumor measuring more than 5 mm in depth and equal or less than 2 cm in greatest dimension. N0: No regional lymph node metastasis. M0: No distant metastasis. (from AJCC 9th Ed.)|NCI|N|
C5557161|Stage IB2 includes: T1b2, N0, M0. T1b2: Tumor measuring more than 2 cm and equal or less than 4 cm in greatest dimension. N0: No regional lymph node metastasis. M0: No distant metastasis. (from AJCC 9th Ed.)|NCI|N|
C5557163|Stage IB3 includes: T1b3, N0, M0. T1b3: Tumor measuring more than 4.0 cm in greatest dimension. N0: No regional lymph node metastasis. M0: No distant metastasis. (from AJCC 9th Ed.)|NCI|N|
C5557165|A stage term referring to invasive cervical cancer that is confined to the cervix without lymph node involvement. It includes: T1b3, N0, M0. (partially adapted from AJCC)|NCI|N|
C5557166|Stage II includes: T2, N0, M0. T2: Tumor invading beyond the uterus but not to the pelvic wall or to lower third of vagina. N0: No regional lymph node metastasis. M0: No distant metastasis. (from AJCC 9th Ed.)|NCI|N|
C5557167|Stage IIA includes: T2a, N0, M0. T2a: Tumor with involvement limited to the upper two-thirds of the vagina without parametrial invasion. N0: No regional lymph node metastasis. M0: No distant metastasis. (from AJCC 9th Ed.)|NCI|N|
C5557169|Stage IIA1 includes: T2a1, N0, M0. T2a1: Tumor with involvement limited to the upper two-thirds of the vagina without parametrial invasion measuring 4.0 cm or less in greatest dimension. N0: No regional lymph node metastasis. M0: No distant metastasis. (from AJCC 9th Ed.)|NCI|N|
C5557171|Stage IIA2 includes: T2a2, N0, M0. T2a2: Tumor with involvement limited to the upper two-thirds of the vagina without parametrial invasion measuring more than 4.0 cm in greatest dimension. N0: No regional lymph node metastasis. M0: No distant metastasis. (from AJCC 9th Ed.)|NCI|N|
C5557173|Stage IIB includes: T2b, N0, M0. T2b: Tumor with parametrial invasion but not up to the pelvic wall. N0: No regional lymph node metastasis. M0: No distant metastasis. (from AJCC 9th Ed.)|NCI|N|
C5557174|Stage III includes: T3, N0, M0. T3: Tumor extending to pelvic sidewall and/or involving the lower third of vagina, and/or causing hydronephrosis or nonfunctioning kidney. The pelvic sidewall is defined as the muscle, fascia, neurovascular structures, and skeletal portions of the bony pelvis. Cases with no cancer-free space between the tumor and pelvic wall by rectal examination are FIGO III. N0: No regional lymph node metastasis. M0: No distant metastasis. (from AJCC 9th Ed.)|NCI|N|
C5557175|Stage IIIA includes: T3a, N0, M0. T3a: Tumor involving the lower third of vagina but not extending to pelvic wall. N0: No regional lymph node metastasis. M0: No distant metastasis. (from AJCC 9th Ed.)|NCI|N|
C5557176|Stage IIIB includes: T3b, N0, M0. T3b: Tumor extending to pelvic wall and/or causing hydronephrosis or nonfunctioning kidney (unless known to be due to another cause). N0: No regional lymph node metastasis. M0: No distant metastasis. (from AJCC 9th Ed.)|NCI|N|
C5557177|Stage IIIC includes: IIIC1: TX, T0, T1-3, N1, M0; IIIC2: TX, T0, T1-3, N2, M0. TX: Primary tumor cannot be assessed. T0: No evidence of primary tumor. T1: Tumor strictly confined to the cervix (extension to corpus should be disregarded). T2: Tumor invading beyond the uterus but not to the pelvic wall or to lower third of vagina. T3: Tumor extending to pelvic sidewall and/or involving the lower third of vagina, and/or causing hydronephrosis or nonfunctioning kidney. The pelvic sidewall is defined as the muscle, fascia, neurovascular structures, and skeletal portions of the bony pelvis. Cases with no cancer-free space between the tumor and pelvic wall by rectal examination are FIGO III. N1: Tumor with regional lymph node metastasis to pelvic lymph nodes only. N2: Tumor with regional lymph node metastasis to para-aortic lymph nodes with or without positive pelvic lymph nodes. M0: No distant metastasis. (from AJCC 9th Ed.)|NCI|N|
C5557178|Stage IIIC1 includes: TX, T0, T1-3, N1, M0. TX: Primary tumor cannot be assessed. T0: No evidence of primary tumor. T1: Tumor strictly confined to the cervix (extension to corpus should be disregarded). T2: Tumor invading beyond the uterus but not to the pelvic wall or to lower third of vagina. T3: Tumor extending to pelvic sidewall and/or involving the lower third of vagina, and/or causing hydronephrosis or nonfunctioning kidney. The pelvic sidewall is defined as the muscle, fascia, neurovascular structures, and skeletal portions of the bony pelvis. Cases with no cancer-free space between the tumor and pelvic wall by rectal examination are FIGO III. N1: Tumor with regional lymph node metastasis to pelvic lymph nodes only. M0: No distant metastasis. (from AJCC 9th Ed.)|NCI|N|
C5557179|Stage IIIC2 includes: TX, T0, T1-3, N2, M0. TX: Primary tumor cannot be assessed. T0: No evidence of primary tumor. T1: Tumor strictly confined to the cervix (extension to corpus should be disregarded). T2: Tumor invading beyond the uterus but not to the pelvic wall or to lower third of vagina. T3: Tumor extending to pelvic sidewall and/or involving the lower third of vagina, and/or causing hydronephrosis or nonfunctioning kidney. The pelvic sidewall is defined as the muscle, fascia, neurovascular structures, and skeletal portions of the bony pelvis. Cases with no cancer-free space between the tumor and pelvic wall by rectal examination are FIGO III. N2: Tumor with regional lymph node metastasis to para-aortic lymph nodes with or without positive pelvic lymph nodes. M0: No distant metastasis. (from AJCC 9th Ed.)|NCI|N|
C5557180|Stage IV includes: IVA: T4, Any N, M0; IVB: Any T, Any N, M1. T4: Tumor has involved (biopsy-proven) the mucosa of the bladder or rectum, or has spread to adjacent organs. M0: No distant metastasis. M1: Distant metastasis including inguinal lymph nodes, lung, liver, bone, or intraperitoneal metastases. Metastases to pelvic or paraaortic lymph nodes, or vagina are excluded. (from AJCC 9th Ed.)|NCI|N|
C5557182|Stage IVA includes: T4, Any N, M0. T4: Tumor has involved (biopsy-proven) the mucosa of the bladder or rectum, or has spread to adjacent organs. M0: No distant metastasis. (from AJCC 9th Ed.)|NCI|N|
C5557184|Stage IVB includes: Any T, Any N, M1. M1: Distant metastasis including inguinal lymph nodes, lung, liver, bone, or intraperitoneal metastases. Metastases to pelvic or paraaortic lymph nodes, or vagina are excluded. (from AJCC 9th Ed.)|NCI|N|
C5557185|Cervical cancer with no evidence of primary tumor. (from AJCC 9th Ed.)|NCI|N|
C5557187|Cervical cancer in which the primary tumor cannot be assessed. (from AJCC 9th Ed.)|NCI|N|
C5557188|A pathologic finding about one or more characteristics of cervical cancer, following the rules of the TNM AJCC v9 classification system as they pertain to staging of regional lymph nodes.|NCI|N|
C5557189|Cervical cancer with no regional lymph node metastasis. (from AJCC 9th Ed.)|NCI|N|
C5557190|Cervical cancer in which the regional lymph nodes cannot be assessed.|NCI|N|
C5557191|Cervical cancer with isolated tumor cells in regional lymph node(s) equal or less than 0.2 mm, or single cells or clusters of cells equal or less than 200 cells in a single lymph node cross section. (from AJCC 9th Ed.)|NCI|N|
C5557200|Synovial cell sarcoma occurring in a cat.|NCI|N|
C5557215|A squamous cell carcinoma of the larynx that arises from the epiglottis.|NCI|N|
C5557251|Sickle cell-SS disease exacerbated by sudden pain caused by sickled erythrocytes impeding blood flow within a vessel.|NCI|N|
C5557252|Sickle cell-hemoglobin C disease exacerbated by sudden pain caused by sickled erythrocytes impeding blood flow within a vessel.|NCI|N|
C5557253|Agranulocytosis that occurs with chemotherapy.|NCI|N|
C5557259|A problem affecting a patient based on their level of education or ability to read.|NCI|N|
C5557260|A problem affecting a patient based on their mental health status as it is affected by societal factors.|NCI|N|
C5557262|Inflammatory carcinoma of the breast that has spread from its original site of growth to another anatomic site.|NCI|N|
C5557268|HER2-positive breast carcinoma that has spread from its original site of growth to nearby tissues or lymph nodes.|NCI|N|
C5557275|A chromosomal deletion involving the p21 band on the short arm of chromosome 6.|NCI|N|
C5557276|A cytogenetic abnormality that refers to the loss of all or part of the short arm of chromosome 15 (15p).|NCI|N|
C5557277|A change in the sequence of the H3-3B gene.|NCI|N|
C5557278|A designation used to map diseases reported by clinical trial sites to CTRP that have not been described in the medical literature.|NCI|N|
C5557279|A change in the amino acid residue at position 35 in histone H3.3 protein where glycine has been replaced by leucine.|NCI|N|
C5557280|A complex substitution where the sequence at positions 103 and 104 of the coding sequence of the H3-3A gene has changed from guanine-guanine to thymine-thymine.|NCI|N|
C5557281|A nucleotide substitution at position 103 of the coding sequence of the H3-3A gene where guanine has been mutated to adenine.|NCI|N|
C5557282|A nucleotide substitution at position 103 of the coding sequence of the H3-3A gene where guanine has been mutated to cytosine.|NCI|N|
C5557283|A change in the amino acid residue at position 35 in histone H3.3 protein where glycine has been replaced by arginine.|NCI|N|
C5557284|A nucleotide substitution at position 104 of the coding sequence of the H3-3B gene where guanine has been mutated to thymine.|NCI|N|
C5557285|A change in the amino acid residue at position 35 in histone H3.3 protein where glycine has been replaced by valine.|NCI|N|
C5557286|A nucleotide substitution at position 103 of the coding sequence of the H3-3A gene where guanine has been mutated to thymine.|NCI|N|
C5557288|A nucleotide substitution at position 103 of the coding sequence of the H3-3B gene where guanine has been mutated to thymine.|NCI|N|
C5557289|A change in the amino acid residue at position 35 in histone H3.3 protein where glycine has been replaced by tryptophan.|NCI|N|
C5557308|The reemergence of metastatic gastric carcinoma after a period of remission.|NCI|N|
C5557310|Durie/Salmon stage I plasma cell myeloma associated with a relatively normal renal function (serum creatinine concentration < 2.0 mg/dL).|NCI|N|
C5557311|Durie/Salmon stage I plasma cell myeloma associated with abnormal renal function (serum creatinine concentration greater than or equal to 2.0 mg/dL).|NCI|N|
C5557312|A change in the nucleotide sequence of the UBA1 gene.|NCI|N|
C5557313|Durie/Salmon stage II plasma cell myeloma associated with a relatively normal renal function (serum creatinine concentration < 2.0 mg/dL).|NCI|N|
C5557314|A change in the nucleotide sequence of the UBA1 gene that originates in non-germline cells.|NCI|N|
C5557315|Durie/Salmon stage II plasma cell myeloma associated with abnormal renal function (serum creatinine concentration greater than or equal to 2.0 mg/dL).|NCI|N|
C5557316|Durie/Salmon stage III plasma cell myeloma associated with a relatively normal renal function (serum creatinine concentration < 2.0 mg/dL).|NCI|N|
C5557317|Durie/Salmon stage III plasma cell myeloma associated with abnormal renal function (serum creatinine concentration greater than or equal to 2.0 mg/dL).|NCI|N|
C5557323|A subjective score of 0 on a scale that rates energy level from 0 (no energy) to 10 (most energy).|NCI|N|
C5557324|A subjective score of 1 on a scale that rates energy level from 0 (no energy) to 10 (most energy).|NCI|N|
C5557325|A subjective score of 2 on a scale that rates energy level from 0 (no energy) to 10 (most energy).|NCI|N|
C5557326|A subjective score of 3 on a scale that rates energy level from 0 (no energy) to 10 (most energy).|NCI|N|
C5557327|A subjective score of 4 on a scale that rates energy level from 0 (no energy) to 10 (most energy).|NCI|N|
C5557328|A subjective score of 6 on a scale that rates energy level from 0 (no energy) to 10 (most energy).|NCI|N|
C5557329|A subjective score of 7 on a scale that rates energy level from 0 (no energy) to 10 (most energy).|NCI|N|
C5557330|A subjective score of 8 on a scale that rates energy level from 0 (no energy) to 10 (most energy).|NCI|N|
C5557331|A subjective score of 9 on a scale that rates energy level from 0 (no energy) to 10 (most energy).|NCI|N|
C5557332|A subjective score of 10 on a scale that rates energy level from 0 (no energy) to 10 (most energy).|NCI|N|
C5557347|Vulvar squamous cell carcinoma in which information on the p16 immunohistochemistry or HPV testing status is not available.|NCI|N|
C5557348|Vulvar squamous cell carcinoma not associated with human papillomavirus infection.|NCI|N|
C5557350|A rare benign, borderline, or malignant phyllodes tumor arising from the vulva.|NCI|N|
C5557351|A rare benign phyllodes tumor arising from the vulva.|NCI|N|
C5557352|A rare borderline phyllodes tumor arising from the vulva.|NCI|N|
C5557354|A dense, superficial benign lymphoid cell proliferation in the cervix. It almost always occurs in premenopausal women. It is composed of a mixture of large and small lymphocytes including immunoblasts. Plasma cells and neutrophils are also present. Immunohistochemical studies reveal a mixture of B and T lymphocytes, and polytypic plasma cells.|NCI|N|
C5557355|A rare extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue affecting the endometrium.|NCI|N|
C5557368|A benign, well-defined, lobulated, myxoid or gelatinous tumor that arises from the vulva. It shares morphological features with lipoblastoma, myxoid liposarcoma, and spindle cell lipoma. It is characterized by a lobulated growth and is composed of mature adipocytes, lipoblasts, and spindle cells without atypia in a myxoid matrix. DDIT3 and PLAG1 gene rearrangements seen in lipoblastoma and myxoid liposarcoma are not present in this tumor. It can recur infrequently and there are no reports of metastasis.|NCI|N|
C5557369|A rare, benign mesenchymal neoplasm that arises from the vulvar region, usually the labia majora of prepubertal girls. It presents as a slow-growing, unilateral painless mass. It is characterized by an infiltrative growth of bland spindle cells in a collagenous, edematous, or myxoid stroma. It may recur following incomplete excision.|NCI|N|
C5557376|A rare solitary fibrous tumor that arises from the vulva.|NCI|N|
C5557377|A rare solitary fibrous tumor that arises from the vagina.|NCI|N|
C5557379|A Kaposi sarcoma arising from the vulva.|NCI|N|
C5557380|A smooth muscle neoplasm that arises from the vulva and cannot be reliably diagnosed as benign or malignant, because of the presence of ambiguous morphologic findings.|NCI|N|
C5557381|A smooth muscle neoplasm that arises from the vagina and cannot be reliably diagnosed as benign or malignant, because of the presence of ambiguous morphologic findings.|NCI|N|
C5557382|A smooth muscle neoplasm that arises from any part of the female reproductive system and cannot be reliably diagnosed as benign or malignant, because of the presence of ambiguous morphologic findings.|NCI|N|
C5557383|A rare benign polypoid skeletal muscle neoplasm arising from the vulva. It is characterized by the presence of round striated muscle cells and strap-like skeletal muscle cells, and vascular space formations within a fibrous and myxoid stroma.|NCI|N|
C5557385|A malignant mesenchymal neoplasm with skeletal muscle differentiation arising from the vulva.|NCI|N|
C5557391|The reemergence of higher-risk myelodysplastic syndrome after a period of remission.|NCI|N|
C5557392|Higher-risk myelodysplastic syndrome that is resistant to treatment.|NCI|N|
C5557393|The reemergence of distal bile duct adenocarcinoma after a period of remission.|NCI|N|
C5557394|Lung adenosquamous carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5557398|An epithelioid sarcoma that arises from the vulva.|NCI|N|
C5557400|A rare epithelioid sarcoma of the distal type that arises from the vulva.|NCI|N|
C5557401|Ewing sarcoma arising from the vulva.|NCI|N|
C5557422|A response indicating that an individual feels or felt healthy.|NCI|N|
C5557426|A sex cord-stromal tumor that arises from the ovary and lacks the morphologic features that belong to the categories of granulosa-stromal tumors, Sertoli-stromal tumors, or steroid cell tumors.|NCI|N|
C5557427|A benign pathologic process characterized by the transformation of the mesothelium into fallopian tube epithelium. It occurs in the peritoneum and may affect the serosa surface of the uterus and the adnexa. It may be asymptomatic or present as pelvic pain.|NCI|N|
C5557428|A rare adenocarcinoma that arises from the broad ligament.|NCI|N|
C5557429|A rare mucinous adenocarcinoma that arises from the broad ligament.|NCI|N|
C5557430|A rare endometrioid adenocarcinoma that arises from the broad ligament. Some of the reported cases were associated with endometriosis.|NCI|N|
C5557431|A rare clear cell adenocarcinoma that arises from the broad ligament.|NCI|N|
C5557432|An adenomyoma that arises from the cervix and is characterized by the presence of glands showing mesonephric differentiation and a smooth muscle cell component. There is no atypia or significant mitotic activity present.|NCI|N|
C5557433|A neurofibroma characterized by the presence of scattered atypical or bizarre nuclei and smudgy chromatin in the absence of other worrisome features. (WHO 2020)|NCI|N|
C5557435|Congenital deafness caused by mutations in the gene GJB2 (deafness gene).|NCI|N|
C5557502|Remission status was not attained.|NCI|N|
C5557509|An autosomal dominant condition caused by mutation(s) in the ANKRD26 gene, encoding ankyrin repeat domain-containing protein 26. It is characterized by moderate thrombocytopenia and an increased risk of developing myelodysplastic syndrome/acute myeloid leukemia.|NCI|N|
C5557519|A variation in the amino acid sequence for serine/threonine-protein kinase STK11.|NCI|N|
C5557528|Fallopian tube clear cell adenocarcinoma that is resistant to treatment.|NCI|N|
C5557542|The reemergence of appendix adenocarcinoma after a period of remission.|NCI|N|
C5557547|A change in the amino acid residue at position 385 in the platelet-derived growth factor receptor alpha protein where lysine has been replaced by leucine.|NCI|N|
C5557562|A change in the nucleotide sequence of the XRCC2 gene that either inhibits expression or results in the translation of an inactive DNA repair protein XRCC2.|NCI|N|
C5557564|Peritoneal malignant mesothelioma that has spread from its original site of growth to another anatomic site.|NCI|N|
C5557567|HER2-low breast adenocarcinoma that has spread from its original site of growth to another anatomic site.|NCI|N|
C5557584|A rare non-neoplastic trophoblastic disorder characterized by the presence of remnants of intermediate trophoblasts in the fallopian tube from a previous pregnancy.|NCI|N|
C5557587|A subjective indication of the strength of staining in a sample.|NCI|N|
C5557593|A score of less than 6 using the Zaidi criteria for recurrence risk for resected pancreatic neuroendocrine tumors. This score correlates with low to intermediate risk of recurrence.|NCI|N|
C5557608|Ureter urothelial carcinoma characterized by the presence of neoplastic epithelial cells with high grade features.|NCI|N|
C5557615|A molecular genetic abnormality indicating the presence of multiple copies of the VHL gene.|NCI|N|
C5557616|A change in the nucleotide sequence of the RRAS gene.|NCI|N|
C5557624|A change in the amino acid residue at position 861 in the epidermal growth factor receptor protein where leucine has been replaced by another amino acid.|NCI|N|
C5557625|T-cell large granular lymphocyte leukemia that is resistant to treatment.|NCI|N|
C5557639|A nucleotide substitution at position 104 of the coding sequence of the H3-3A gene where guanine has been mutated to thymine.|NCI|N|
C5557640|A subjective score of 5 on a scale that rates energy level from 0 (no energy) to 10 (most energy).|NCI|N|
C5557648|A large, unilateral, solitary ovarian cyst lined by luteinized cells, occurring during pregnancy or puerperium. (WHO 2020)|NCI|N|
C5557678|A benign neoplasm that arises from the broad or other uterine ligaments. It is characterized by the presence of a glandular and a mesenchymal component.|NCI|N|
C5558248|The presence of foam cells, a type of macrophage that localizes to fatty deposits on blood vessel walls, in the central nervous system.|HPO|N|
C5558249|Anomalous structure of the capillaries that are derived from the efferent arteriole, forming a capillary network that surrounds the distal portions of the nephron tubule,|HPO|N|
C5558250|Anomalous structure of the peritubular capillaries located in the cortex of the kidney.|HPO|N|
C5558251|Duplicated basement membranes of the peritubular capillaries located in the cortex of the kidney and arranged in multiple concentric layers.|HPO|N|
C5558252|Inflammation of the peritubular capillaries in the cortex of the kidney characterized by Inflammatory cells in over 10 percent of the interstitial capillaries in the cortex with at least some capillaries having three or more luminal cells.|HPO|N|
C5558253|Abnormal structural characteristics of the interior space of the peritubular capillary in the cortex of the kidney.|HPO|N|
C5558254|Anomalous structure of the peritubular capillaries located in the medulla of the kidney.|HPO|N|
C5558255|Inflammation of the peritubular capillaries in the medulla of the kidney characterized by Inflammatory cells in over 10 percent of the interstitial capillaries in the cortex with at least some capillaries having three or more luminal cells.|HPO|N|
C5558256|Substantially increased numbers of red blood cells within capillaries surrounding tubules in the medulla of the kidney. This feature is assessed in histological images as the presence of numerous erythrocytes in a segment of the capillary such that the vessel appears to be congested (not open).|HPO|N|
C5558257|Duplicated basement membranes of the peritubular capillaries located in the medulla of the kidney and arranged in multiple concentric layers.|HPO|N|
C5558258|Abnormal structural characteristics of the interior space of the peritubular capillary in the medulla of the kidney.|HPO|N|
C5558259|Needle-like or slit-like clefts within the interior space of peritubular capillaries located in the medulla of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin.|HPO|N|
C5558260|Mixture of fibrin, red blood cells, platelets partly or completely occluding the vascular lumen of the peritubular capillaries located in the medulla of the kidney.|HPO|N|
C5558261|Thrombi containg fibrous tissue and capillary-like vascular channels located within the lumen of the peritubular capillaries of the medulla of the kidney.|HPO|N|
C5558262|Needle-like or slit-like clefts within the interior space of peritubular capillaries located in the cortex of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin.|HPO|N|
C5558263|Mixture of fibrin, red blood cells, platelets partly or completely occluding the vascular lumen of the peritubular capillaries located in the cortex of the kidney.|HPO|N|
C5558264|Thrombi containg fibrous tissue and capillary-like vascular channels located within the lumen of the peritubular capillaries of the cortex of the kidney.|HPO|N|
C5558265|Abnormal structural characteristics of the interior space (lumen) of the arcuate vein of the kidney.|HPO|N|
C5558266|Needle-like or slit-like clefts within the interior space of arcuate veins of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin.|HPO|N|
C5558267|Mixture of fibrin, red blood cells, platelets partly or completely occluding the vascular lumen of the arcuate veins of the kidney.|HPO|N|
C5558268|Thrombi containg fibrous tissue and capillary-like vascular channels located within the lumen of the arcuate veins of the kidney.|HPO|N|
C5558269|Any structural anomaly located in the inner or middle layer of the arcuate veins of the kidney.|HPO|N|
C5558270|Accumulation of edematous extracellular matrix in the inner layer (intima) of arcuate veins of the kidney. The material resembles mucus and appears pale blue on hematoxylin and eosin staining.|HPO|N|
C5558271|Accumulation of myxoid material (mucus-like material) within the inner or middle layer of the arcuate vein of the kidney.|HPO|N|
C5558272|Amorphous extracellular substance in the inner or middle layer of the arcuate veins of the kidney. Amyloidosis stains Congo-red positive with typically an apple green birerfingence on polarization microscopy, and 8-12 nm fibrils on electron microscopy.|HPO|N|
C5558273|Any structural anomaly of the radial arteries that branch off at right angles from the arcuate artery and carry blood toward the cortex of the kidney.|HPO|N|
C5558274|Abnormal structural characteristics of the interior space of the cortical radial arteries of the kidney.|HPO|N|
C5558275|Needle-like or slit-like clefts within the interior space of cortical radial arteries (interlobular arteries) of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin.|HPO|N|
C5558276|Anomalous structure of the inner or middle layer of the arc-shaped arteries located at the border of the renal cortex and renal medulla.|HPO|N|
C5558277|Amorphous extracellular substance in the glomerular, interstitial or vascular compartments of the interlobular arteries of the kidney. Congo-red positive with typically an apple green birerfingence on polarization microscopy, and 8-12 nm fibrils on electron microscopy|HPO|N|
C5558278|Any structural anomaly of the inner or middle layer of the cortical radial arteries (also known as interlobular arteries) of the kidney.|HPO|N|
C5558279|Any structural anomaly of the glomerular arterioles. The interlobar arteries of the kidney branch into arcuate arteries, cortical radiate arteries, and then into afferent arterioles. After passing through the renal corpuscle, the capillaries form the efferent arteriole. The afferent and efferent arterioles are difficult to distinguish histologically and are thus both included in this term and its descendents.|HPO|N|
C5558280|Abnormal structural characteristics of the interior space (lumen) of renal arterioles.|HPO|N|
C5558281|Needle-like or slit-like clefts within the interior space of arterioles of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin.|HPO|N|
C5558282|Any structural anomaly located in the inner or middle layer of the arterioles of the kidney.|HPO|N|
C5558283|Thrombi containg fibrous tissue and capillary-like vascular channels located within the lumen of the arterioles of the kidney.|HPO|N|
C5558284|Mixture of fibrin, red blood cells, platelets partly or completely occluding the vascular lumen of the arterioles of the kidney.|HPO|N|
C5558285|Any structural anomaly of the lining (endothelium) of the arterioles of the kidney.|HPO|N|
C5558286|Abnormal structural characteristics of the interior space (lumen) of the arcuate artery of the kidney.|HPO|N|
C5558287|Needle-like or slit-like clefts within the interior space of arcuate arteries of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin.|HPO|N|
C5558288|Mixture of fibrin, red blood cells, platelets partly or completely occluding the vascular lumen of the arcuate arteries of the kidney.|HPO|N|
C5558289|Thrombi containg fibrous tissue and capillary-like vascular channels located within the lumen of the arcuate arteries of the kidney.|HPO|N|
C5558290|Amorphous extracellular substance in the inner or middle layer of renal arterioles. Amyloidosis stains Congo-red positive with typically an apple green birerfingence on polarization microscopy, and 8-12 nm fibrils on electron microscopy.|HPO|N|
C5558291|Any structural anomaly of the lining (endothelium) of the arcuate arteries of the kidney.|HPO|N|
C5558292|Enlargement of endothelial cells of the arcuate arteries of the kidney because of cytoplasmic swelling.|HPO|N|
C5558293|Proliferation of endothelial cells (increased number of cells) of the lining (endothelium) of the arcuate arteries of the kidney.|HPO|N|
C5558294|Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material (hyalinosis) in the inner or middle layer of the renal arterioles. This feature may be accompanied by hypertrophy of the media and intima fibrosis.|HPO|N|
C5558295|Thickening of the intima of the arcuate arteries of the kidney with fibrosis and/or duplication of the elastic lamina.|HPO|N|
C5558296|Inflammation of an arteriole of the kidney, which may involve only the intma or can be transmural.|HPO|N|
C5558297|Thickening of the intima of renal arterioles with fibrosis and/or duplication of the elastic lamina.|HPO|N|
C5558298|Atrophy (wasting, decreased thickness) of of the middle layer of the arterioles of the kidney.|HPO|N|
C5558299|Increased thickness of middle layer of the arcuate veins of the kidney.|HPO|N|
C5558300|Atrophy (wasting, decreased thickness) of the middle layer of the arcuate veins of the kidney.|HPO|N|
C5558301|Increased thickness of the middle layer of the cortical radial arteries (also known as the interlobular arteries) of the kidney.|HPO|N|
C5558302|Atrophy (wasting, decreased thickness) of the middle layer of the cortical radial arteries (also known as the interlobular arteries) of the kidney.|HPO|N|
C5558303|Inflammation of a the intima or the entire wall of cortical radial arteries (also known as the interlobular arteries) of the kidney.|HPO|N|
C5558304|Amorphous extracellular substance in the inner or middle layer of the arcuate arteries of the kidney. Congo-red positive with typically an apple green birerfingence on polarization microscopy, and 8-12 nm fibrils on electron microscopy.|HPO|N|
C5558305|Accumulation of edematous extracellular matrix in intima resembling mucus. This feature appears pale blue on hematoxylin and eosin staining.|HPO|N|
C5558306|Thickening of the intima with fibrosis and/or duplication of the elastic lamina in arcuate veins.|HPO|N|
C5558308|Increased thickness of middle layer of the arterioles of the kidney.|HPO|N|
C5558309|Deposition of storage material other than amyloid (glycogen, glycosphingolipid in Fabry's disease, sphingomyelin in Nieman Pick disease, glucosylceramide in Gaucher's disease, gangliosides, mucopolysaccahrides, phytanic acid in Refsum disease) in the inner or middle layer of the arterioles of the kidney.|HPO|N|
C5558310|Abnormal and excessive number of cells (hypercellularity) in the lining (endothelium) of the arterioles of the kidney.|HPO|N|
C5558311|A type of renal arteriole endoarterial hypercellularity due to increased number of white blood cells (leukocytes).|HPO|N|
C5558312|A type of renal arteriole leukocytic endoarterial hypercellularity due to the presence of lipid-filled cells, often a macrophage, with a vacuolated appearance in arteriolar lumen.|HPO|N|
C5558313|A type of renal arteriole leukocytic endoarterial hypercellularity due to the presence of increased numbers of neutrophils within the arteriolar lumen.|HPO|N|
C5558314|A type of renal arteriole leukocytic endoarterial hypercellularity due to the presence of increased number of lymphocytes in the arteriolar lumen.|HPO|N|
C5558315|Myointimal hyperplasia arranged in multiple concentric layers in the inner or middle layer of the arterioles of the kidney.|HPO|N|
C5558316|Arcuate artery endoarterial hypercellularity due to increased numbers of white blood cells (leukocytes).|HPO|N|
C5558317|A type of arcuate artery endoarterial leukocyte hypercellularity due to the presence of lipid-filled cells, often a macrophage, with a vacuolated appearance in arteriolar lumen.|HPO|N|
C5558318|A type of arcuate artery endoarterial leukocyte hypercellularity due to the presence of increased numbers of neutrophils withinin the lumen of arcuate artery.|HPO|N|
C5558319|A type of arcuate artery endoarterial leukocyte hypercellularity due to the presence of increased number of lymphocytes in the lumen of arcuate artery.|HPO|N|
C5558320|Death of tissue in the inner or middle layer of the arcuate artery of the kidney.|HPO|N|
C5558321|A type of arcuate artery intima/media necrosis in which the necrotic tissue retains the outlines of the dead (necrotic) structures.|HPO|N|
C5558322|A type of arcuate artery intima/media necrosis in which the dead (necrotic) tissue breaks down such that cellular detail is no longer recognized.|HPO|N|
C5558323|Accumulation of material other than amyloid (glycogen, glycosphingolipid in Fabry's disease, sphingomyelin in Nieman Pick disease, glucosylceramide in Gaucher's disease, gangliosides, mucopolysaccahrides, phytanic acid in Refsum disease) in the inner or middle layer of the arcuate veins of the kidney.|HPO|N|
C5558324|Cell death (necrosis) in the inner or middle layer of the cortical radial arteries (also known as the interlobular arteries) of the kidney.|HPO|N|
C5558325|A type of cortical radial artery intima/media necrosis in which the dead (necrotic) tissue breaks down such that cellular detail is no longer recognized.|HPO|N|
C5558326|A type of cortical radial artery intima/media necrosis in which the dead (necrotic) tissue retains the outlines of the dead structures.|HPO|N|
C5558327|Cell death (necrosis) in the inner or middle layer of the arterioles of the kidney.|HPO|N|
C5558328|A type of renal arteriole intima/media necrosis in which the dead (necrotic) tissue breaks down such that cellular detail is no longer recognized.|HPO|N|
C5558329|A type of renal arteriole intima/media necrosis in which the dead (necrotic) tissue retains the outlines of the dead structures.|HPO|N|
C5558330|A type of renal intimal/medial arteriolitis characteriezed by circumscribed inflammatory lesions comprised primarily of macrophages present in inflamed arteries.|HPO|N|
C5558331|Cell death (necrosis) of the inner or middle layer of the arcuate veins of the kidney.|HPO|N|
C5558332|A type of arcuate vein medial/intimal necrosis in which the dead (necrotic) tissue retains the outlines of the dead structures.|HPO|N|
C5558333|A type of arcuate vein medial/intimal necrosis in which the dead (necrotic) tissue breaks down such that cellular detail is no longer recognized.|HPO|N|
C5558334|A type of arcuate intimal/medial venulitis characterized by circumscribed inflammatory lesions comprised primarily of macrophages present in inflamed veins.|HPO|N|
C5558335|Deposition of crystals such as uric acid, oxalate, or cystine in the inner or middle layer of the arcuate veins of the kidney.|HPO|N|
C5558336|Deposition of crystals such as uric acid, oxalate, or cystine in the inner or middle layer of the arterioles of the kidney.|HPO|N|
C5558337|Inflammation of the inner or middle layer of the arcuate arteries of the kidney.|HPO|N|
C5558338|A type of arcuate artery intima/media granulomatous arteriitis characterized by circumscribed inflammatory lesions comprised primarily of macrophages present in inflamed arteries.|HPO|N|
C5558339|Mixture of fibrin, red blood cells, platelets partly or completely occluding vascular lumen within the interior space of cortical radial arteries (interlobular arteries) of the kidney.|HPO|N|
C5558340|Thrombi containing fibrous tissue and capillary-like vascular channels within the interior space of cortical radial arteries (interlobular arteries) of the kidney.|HPO|N|
C5558341|Abnormal structural characteristics of the lining (endothelium) of the cortical radial arteries (also known as interlobular arteries) of the kidney.|HPO|N|
C5558342|Enlargement of endothelial cells of the cortical radial arteries (also known as the interlobular arteries) of the kidney because of cytoplasmic swelling.|HPO|N|
C5558343|Proliferation of endothelial cells (increased number of cells) of the lining (endothelium) of the cortical radial arteries (also known as interlobular arteries) of the kidney.|HPO|N|
C5558344|A type of cortical radial artery endoarterial hypercellularity due to increased numbers of white blood cells (leukocytes).|HPO|N|
C5558345|A type of cortical radial artery endoarterial leukocyte hypercellularity due to the presence of increased number of lymphocytes in the lumen of cortical radial arteries.|HPO|N|
C5558346|A type of cortical radial artery endoarterial leukocyte hypercellularity due to the presence of increased numbers of neutrophils in the lumen of cortical radial arteries.|HPO|N|
C5558347|A type of cortical radial artery endoarterial leukocyte hypercellularity due to the presence of lipid-filled cells, often macrophages, with a vacuolated appearance in the lumen of cortical radial artery (also known as the interlobular artery) of the kidney.|HPO|N|
C5558348|Thickening of the intima of the cortical radial artery (also known as the interlobular artery) of the kidney characterized by fibrosis and/or duplication of the elastic lamina.|HPO|N|
C5558349|Accumulation of edematous extracellular matrix in the intima of the cortical radial artery (also known as the interlobular artery) of the kidney. This material resembles mucus and stains pale blue on hematoxylin and eosin staining.|HPO|N|
C5558350|Myointimal hyperplasia of the inner and middle layer of the cortical radial artery (also known as the interlobular artery) of the kidney, arranged in multiple concentric layers.|HPO|N|
C5558351|A type of cortical radial artery medial/intimal arteriitis that is characterized by circumscribed inflammatory lesions comprised primarily of macrophages present in inflamed arteries.|HPO|N|
C5558352|Any structural anomaly of the inner or middle layer of the interlobular veins of the kidney.|HPO|N|
C5558353|Thickening of the intima with fibrosis and/or duplication of the elastic lamina in interlobular veins of the kidney.|HPO|N|
C5558354|Accumulation of edematous extracellular matrix in the intima of the interlobular vein of the kidney. This material resembles mucus and stains pale blue on hematoxylin and eosin staining.|HPO|N|
C5558355|Amorphous extracellular substance in the glomerular, interstitial or vascular compartments of the interlobular veins of the kidney. Congo-red positive with typically an apple green birerfingence on polarization microscopy, and 8-12 nm fibrils on electron microscopy|HPO|N|
C5558356|Inflammation of the interlobular veins of the kidney which may affect only the intima or may be transmural.|HPO|N|
C5558357|A type of interlobular vein intima/media venulitis that is characterized by circumscribed inflammatory lesions comprised primarily of macrophages present in inflamed veins.|HPO|N|
C5558358|Cell death (necrosis) in the inner or middle layer of the interlobular vein of the kidney.|HPO|N|
C5558359|A type of interlobular vein intima/media necrosis in which the dead (necrotic) tissue breaks down such that cellular detail is no longer recognized.|HPO|N|
C5558360|A type of interlobular vein intima/media necrosis in which the dead (necrotic) tissue retains the outlines of the dead structures.|HPO|N|
C5558361|Atrophy (wasting, decreased thickness) of the medial layer pf the interlobular veins of the kidney.|HPO|N|
C5558362|Increased thickness of middle layer of the interlobular veins of the kidney.|HPO|N|
C5558363|Myointimal hyperplasia of the inner and middle layer of the interlobular veins of the kidney, arranged in multiple concentric layers.|HPO|N|
C5558364|Absence of the fingernail of the index (second) finger.|HPO|N|
C5558365|The presence of an extra nail on the palmar (volar, ventral) surface of the finger.|HPO|N|
C5558366|Diminished activity of the enzyme beta-hexosaminidase in the blood circulation.|HPO|N|
C5558367|An infarct located in the almond-shaped body of basal nuclei anterior to the inferior horn of the lateral ventricle of the brain, within the temporal lobe that can only be observed microscopically.|HPO|N|
C5558368|An infarct located in the structure of the cerebrum involved with memory storage and spatial navigation that can only be observed microscopically.|HPO|N|
C5558369|Softening of the tracheal and/or bronchial cartilage resulting in segmental tracheal and/or bronchial weakness.|HPO|N|
C5558370|Inability to ingest sufficient quantities of nutrition by mouth or by tube-feeding with the corresponding requirement for intravenous administration of nutrition.|HPO|N|
C5558371|The presence of vacuoles bearing centripetal microvilli in small gut villus enterocytes.|HPO|N|
C5558372|The presenceaccumulationof periodic acid-Schiff (PAS) granules in the subapical region of small intenstinal microvilli, appearing as different kinds of vesicular/tubular structures.|HPO|N|
C5558373|Formation of vacuoles, i.e., membrane-bound organelles, in the portion of the cytoplasm near the nucleus within myocytes of the heart.|HPO|N|
C5558374|A developmental defect of pulmonary lobation characterized by the presence of only one lobe of the right lung, which normally has three lobes.|HPO|N|
C5558375|The presence of autoantibodies (immunoglobulins) in the blood circulation that react against complement factor H.|HPO|N|
C5558376|The presence of autoantibodies (immunoglobulins) in the blood circulation that react against the phospholipase A2 receptor.|HPO|N|
C5558377|Regional increase in the width (height) of the middle portion of the eyebrow.|HPO|N|
C5558378|An abnormal reduction in the amount of spines on a given dendrite.|HPO|N|
C5558379|A decreased amount of the urinary cross-links lysyl-pyridinoline (LP, or deoxypyridinoline DPD) as compared to hydroxylysyl-pyridinoline (HP, or pyridinoline PYD). Both are established biochemical markers of osteoclastic bone resorption and collagen degradation.|HPO|N|
C5558380|Wasting (atrophy) of the optic chiasm.|HPO|N|
C5558381|Increased numbers of megakryocyte precursors (megakaryocyte colony forming units) in the bone marrow.|HPO|N|
C5558382|A type of pericallosal lipoma that is thin and curves around the posterior end of the splenium of the corpus callosum.|HPO|N|
C5558383|A type of pericallosal lipoma with a rounded or lobular appearance and a diameter that is usually above 2 cm. They are anteriorly situated and are associated with extensive callosal and often fronto-facial anomalies. A tubulonodular pericallosal lipoma can extend into the choroid plexus or lateral ventricles.|HPO|N|
C5558384|Thick-walled abnormal gas-filled interstitial nodule within a lung.|HPO|N|
C5558385|The presence of autoantibodies (immunoglobulins) in the blood circulation that react against a human leukocyte antigen (HLA).|HPO|N|
C5558386|The presence of autoantibodies (immunoglobulins) in the blood circulation that react against a class I human leukocyte antigen (HLA). Class I HLA corresponds to MHC class I (A, B, and C).|HPO|N|
C5558387|The presence of autoantibodies (immunoglobulins) in the blood circulation that react against a class II human leukocyte antigen (HLA). Class I HLA corresponds to MHC class II (DP, DM, DO, DQ, and DR).|HPO|N|
C5558388|The presence of autoantibodies (immunoglobulins) in the blood circulation that react against a human leukocyte antigen-A (HLA-A).|HPO|N|
C5558389|The presence of IgG1 autoantibodies in the blood circulation that react against a human leukocyte antigen-A (HLA-A).|HPO|N|
C5558390|The presence of IgG3 autoantibodies in the blood circulation that react against a human leukocyte antigen-A (HLA-A).|HPO|N|
C5558391|The presence of autoantibodies (immunoglobulins) in the blood circulation that react against a human leukocyte antigen-B (HLA-B).|HPO|N|
C5558392|The presence of IgG1 autoantibodies in the blood circulation that react against a human leukocyte antigen-B (HLA-B).|HPO|N|
C5558393|The presence of IgG3 autoantibodies in the blood circulation that react against a human leukocyte antigen-B (HLA-B).|HPO|N|
C5558394|Any deviation from the normal concentration of gamma-aminobutyric acid (GABA) in the blood circulation.|HPO|N|
C5558395|An increased concentration of saccharopine in the blood circulation. L-saccharopine is the N(6)-(1,3-dicarboxypropan-1-yl) derivative of L-lysine.|HPO|N|
C5558396|Any deviation from the normal amount in the urine of an alpha-amino acid which is not a member of the group of 23 proteinogenic amino acids.|HPO|N|
C5558397|The presence of foam cells, a type of macrophage that localizes to fatty deposits on blood vessel walls, in the liver.|HPO|N|
C5558398|Inflammatory chilblain-like nodules on the hands and/or fingers.|HPO|N|
C5558399|Abnormally low blood oxygen level without the presence of dyspnea.|HPO|N|
C5558400|Continuous or nearly continuous configuration of the cartilaginous tracheal ring.|HPO|N|
C5558401|A diffuse and specific increase in the number of alpha-cells.|HPO|N|
C5558402|A congenital hand malformation characterized by the coalescence of the coalescence of third and fourth metacarpals (i.e., those corresponding to the middle and ring fingers).|HPO|N|
C5558403|The presence of autoantibodies (immunoglobulins) in the blood circulation that react against anti-adenylate kinase 5 (AK5).|HPO|N|
C5558404|The presence of autoantibodies (immunoglobulins) in the blood circulation that react against contactin-associated protein-like 2 (CASPR2).|HPO|N|
C5558405|The presence of autoantibodies (immunoglobulins) in the blood circulation that react against dipeptidyl-peptidase-like protein 6 (DPPX).|HPO|N|
C5558406|The presence of autoantibodies (immunoglobulins) in the blood circulation that react against FGFR3.|HPO|N|
C5558407|The presence of autoantibodies (immunoglobulins) in the blood circulation that react against gamma-aminobutyric acid A receptor, i.e., GABA(A)R.|HPO|N|
C5558408|The presence of autoantibodies (immunoglobulins) in the blood circulation that react against gamma-aminobutyric acid B receptor, i.e., GABA(B)R.|HPO|N|
C5558409|The presence of autoantibodies (immunoglobulins) in the blood circulation that react against glutamic acid decarboxylase 65 (GAD65).|HPO|N|
C5558410|The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Gephyrin.|HPO|N|
C5558411|The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Glycine receptor (GlyR).|HPO|N|
C5558412|The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Homer-3.|HPO|N|
C5558413|The presence of autoantibodies (immunoglobulins) in the blood circulation that react against immunoglobulin-like cell adhesion molecule 5 (IgLON5).|HPO|N|
C5558414|The presence of autoantibodies (immunoglobulins) in the blood circulation that react against inositol 1,4,5-trisphosphate receptor 1 (ITPR1).|HPO|N|
C5558415|The presence of autoantibodies (immunoglobulins) in the blood circulation that react against kelch-like protein 11 (KLHL11).|HPO|N|
C5558416|The presence of autoantibodies (immunoglobulins) in the blood circulation that react against leucine-rich glioma-inactivated 1 (LGI1).|HPO|N|
C5558419|The presence of autoantibodies (immunoglobulins) in the blood circulation that react against metabotropic glutamate receptor 1 (mGluR1).|HPO|N|
C5558420|The presence of autoantibodies (immunoglobulins) in the blood circulation that react against metabotropic glutamate receptor 5 (mGluR5).|HPO|N|
C5558421|The presence of autoantibodies (immunoglobulins) in the blood circulation that react against neurexin-3alpha.|HPO|N|
C5558422|The presence of autoantibodies (immunoglobulins) in the blood circulation that react against P/Q-type voltage-gated calcium channels (VGCCs).|HPO|N|
C5558423|The presence of autoantibodies (immunoglobulins) in the blood circulation that react against microtubule-associated protein 1B (MAP1B).|HPO|N|
C5558424|The presence of autoantibodies (immunoglobulins) in the blood circulation that react against protein kinase Cgamma.|HPO|N|
C5558425|The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Septin-5.|HPO|N|
C5558426|The presence of autoantibodies (immunoglobulins) in the blood circulation that react against seizure-related 6 homolog like 2 (SEZ6L2).|HPO|N|
C5558427|The presence of autoantibodies (immunoglobulins) in the blood circulation that react against SOX1. Anti-SOX1 antibodies, also known as antiglial nuclear antibody (AGNA), are specifically found in paraneoplastic neurological disorders. Since SOX1 is expressed in neuronal precursor cells in the developing central nervous system, it has been used as an early marker of neural stem cells.|HPO|N|
C5558428|The presence of autoantibodies (immunoglobulins) in the blood circulation that react against the axon initial segment protein tripartite motif 46 (TRIM46).|HPO|N|
C5558429|The presence of autoantibodies (immunoglobulins) in the blood circulation that react against TRIM9/TRIM67.|HPO|N|
C5558431|The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Sj/inositol 1,4,5-trisphosphate receptor.|HPO|N|
C5558432|The presence of autoantibodies (immunoglobulins) in the blood circulation that react against dopamine-2 receptor.|HPO|N|
C5558433|The presence of autoantibodies (immunoglobulins) in the blood circulation that react against low-density lipoprotein receptor (Lrp4).|HPO|N|
C5558434|The presence of autoantibodies (immunoglobulins) in the blood circulation that react against the voltage-gated potassium channel Kv1.4.|HPO|N|
C5558435|Differential degree of bluish discoloration between the upper and lower extremities.|HPO|N|
C5558436|Abnormally increased hair growth in the lskin of the back.|HPO|N|
C5559948|ISSVA Classification of Vascular Anomalies ©2018 International Society for the Study of Vascular Anomalies Available at ""issva.org/classification"" Accessed May 25, 2022.|SNOMEDCT_US|N|
C5559949|ISSVA Classification of Vascular Anomalies ©2018 International Society for the Study of Vascular Anomalies Available at ""issva.org/classification"" Accessed May 11, 2022.|SNOMEDCT_US|N|
C5561921|A status indicating that an individual has received a COVID-19 vaccination but has not completed a vaccination series.|NCI|N|
C5561924|Epidermolysis bullosa simplex (EBS) is characterized by fragility of the skin (and mucosal epithelia in some instances) that results in non-scarring blisters and erosions caused by minor mechanical trauma. EBS is distinguished from other types of epidermolysis bullosa (EB) or non-EB skin fragility syndromes by the location of the blistering in relation to the dermal-epidermal junction. In EBS, blistering occurs within basal keratinocytes. The severity of blistering ranges from limited to hands and feet to widespread involvement. Additional features can include hyperkeratosis of the palms and soles (keratoderma), nail dystrophy, milia, and hyper- and/or hypopigmentation. Rare EBS subtypes have been associated with additional clinical features including pyloric atresia, muscular dystrophy, cardiomyopathy, and/or nephropathy.|GeneReviews|N|
C5561925|Retinitis pigmentosa-91 (R91) is characterized by night blindness and constriction of visual fields, with bone-spicule pigmentation, attenuation of retinal vessels, and optic disc pallor on funduscopy. Patients may also experience early macular involvement, with photophobia and reduced visual acuity, and some show a bull's eye pattern of macular atrophy (Olivier et al., 2021).|OMIM|N|
C5561926|Interstitial lung disease (ILD) comprises a heterogeneous group of rare diseases affecting the distal part of the lung and characterized by a progressive remodeling of the alveolar interstitium. The manifestations form a spectrum ranging from idiopathic interstitial pneumonia (IIP) or pneumonitis to the more severe idiopathic pulmonary fibrosis (IPF). IPF is associated with an increased risk of developing lung cancer, which occurs in a subset of patients with ILD. Clinical features of ILD include dyspnea, clubbing of the fingers, and restrictive lung capacity. Imaging typically shows ground glass opacities and inter- and intraseptal thickening, while histologic studies usually show a pattern consistent with 'usual interstitial pneumonia' (UIP) (review by Gross and Hunninghake, 2001; summary by Legendre et al., 2020).
Idiopathic pulmonary fibrosis is one of a family of idiopathic pneumonias sharing clinical features of shortness of breath, radiographically evident diffuse pulmonary infiltrates, and varying degrees in inflammation, fibrosis, or both on lung biopsy. In some cases, the disorder can be rapidly progressive and characterized by sequential acute lung injury with subsequent scarring and end-stage lung disease. Although older studies included several forms of interstitial pneumonia under the term 'idiopathic pulmonary fibrosis,' the clinical label of 'idiopathic pulmonary fibrosis' should be reserved for patients with  a specific form of fibrosing interstitial pneumonia referred to as usual interstitial pneumonia (Gross and Hunninghake, 2001). It is estimated that 0.5 to 2.2% of cases of idiopathic pulmonary fibrosis are familial (Marshall et al., 2000). Gross and Hunninghake (2001) reviewed idiopathic pulmonary fibrosis, emphasizing definition, pathogenesis, diagnosis, natural history, and therapy. Antoniou et al. (2004) provided a 'top ten list' of references pertaining to etiopathogenesis, prognosis, diagnosis, therapy, and other aspects of idiopathic pulmonary fibrosis.
For a discussion of genetic heterogeneity of ILD, see ILD1 (619611).
Pulmonary fibrosis can also be a feature in patients with mutations in the TERT (187270) or the TERC (602322) gene; see PFBMFT1 (614742) and PFBMFT2 (614743).
Some patients with surfactant protein C deficiency (610913) who survive to adulthood manifest features of pulmonary fibrosis.|OMIM|N|
C5561927|Neuronal ceroid lipofuscinosis-6B (CLN6B) is an autosomal recessive form of 'Kufs disease,' which refers in general to adult-onset neuronal ceroid lipofuscinosis without retinal involvement. CLN6B is a neurodegenerative disorder with a mean onset of symptoms at around age 28 years, although onset in the teens and later adulthood may also occur. Patients typically present with progressive myoclonus epilepsy, ataxia, loss of motor function, dysarthria, progressive dementia, and progressive cerebral and cerebellar atrophy on brain imaging. Ultrastructural examination typically shows fingerprint profiles and granular osmiophilic deposits in some tissues, including brain samples (summary by Arsov et al., 2011 and Berkovic et al., 2019). However, pathologic findings in peripheral tissues in adults is not as accurate for diagnosis as it is in children with the disease (Cherian et al., 2021).
For a general phenotypic description and a discussion of genetic heterogeneity of CLN, see CLN1 (256730).|OMIM|N|
C5561928|Anencephaly is characterized by the absence of cranial vault and brain tissues in the fetus. It is considered an extreme form of neural tube defect (182940) (summary by Singh et al., 2017).
Genetic Heterogeneity of Anencephaly
See also anencephaly-2 (ANPH2; 619452), caused by mutation in the NUAK12 gene (608131) on chromosome 1q32.|OMIM|N|
C5561929|CSF1R-related adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is characterized by executive dysfunction, memory decline, personality changes, motor impairments, and seizures. A frontal lobe syndrome (e.g., loss of judgment, lack of social inhibitors, lack of insight, and motor persistence) usually appears early in the disease course. The mean age of onset is usually in the fourth decade. Affected individuals eventually become bedridden with spasticity and rigidity. The disease course ranges from two to 30 or more years (mean: 8 years).|GeneReviews|N|
C5561930|X-linked syndromic intellectual developmental disorder with pigmentary mosaicism and coarse facies (MRXSPF) is characterized by a phenotypic triad of severe developmental delay, coarse facial dysmorphisms, and Blaschkoid pigmentary mosaicism. Additional clinical features may include epilepsy, orthopedic abnormalities, hypotonia, and growth abnormalities. The disorder affects both males and females (Villegas et al., 2019; Diaz et al., 2020).|OMIM|N|
C5561933|Charcot-Marie-Tooth disease type 2GG (CMT2GG) is an autosomal dominant axonal peripheral neuropathy characterized by slowly progressive distal muscle weakness and atrophy primarily affecting the lower limbs and causing difficulty walking. The onset is usually in adulthood, although rare patients may have mild symptoms from childhood. Some individuals may also have involvement of the hands. Although most patients have hypo- or areflexia at the ankles, distal sensory impairment is not always present, indicating a spectrum of disease encompassing both distal hereditary neuropathy and axonal CMT. Electrophysiologic studies are consistent with a axonal process (summary by Mendoza-Ferreira et al., 2020).
For a discussion of genetic heterogeneity of axonal CMT, see CMT2A1 (118210).|OMIM|N|
C5561934|Primary bile acid malabsorption (PBAM) is an intestinal disorder associated with chronic watery diarrhea, excess fecal bile acids, and steatorrhea. Bile acid malabsorption has been classified into 3 main types depending on the etiology. Types 1 and 3 are secondary disorders: type 1 is due to ileal dysfunction resulting from Crohn disease or ileal resection, and type 3 is secondary to other conditions, including cholecystectomy, post-vagotomy, celiac disease, and pancreatic insufficiency. Type 2 bile acid malabsorption is a primary congenital disorder, including the rare type due to mutations in the SLC10A2 gene (review by Pattni and Walters, 2009).
Genetic Heterogeneity of Primary Bile Acid Malabsorption
Also see PBAM2 (619481), caused by mutation in the SLC51B gene (612085).|OMIM|N|
C5561935|STT3A-CDG is a form of congenital disorders of N-linked glycosylation characterized by developmental delay, intellectual disability, failure to thrive, hypotonia and seizures. STT3A-CDG is caused by mutations in the gene <i>STT3A</i> (11q23.3).|ORDO|N|
C5561936|Bardet-Biedl syndrome-22 (BBS22) is an autosomal recessive ciliopathy described in a single patient and characterized by retinitis pigmentosa, obesity, polydactyly, hypogonadism, and intellectual disability (Lindstrand et al., 2016).
For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (209900).|OMIM|N|
C5561937|Infantile-onset myofibrillar myopathy-12 with cardiomyopathy (MFM12) is a severe autosomal recessive disorder affecting both skeletal and cardiac muscle tissue that is apparent in the first weeks of life. Affected infants show tremor or clonus at birth, followed by onset of rapidly progressive generalized muscle weakness and dilated cardiomyopathy and cardiac failure, usually resulting in death by 6 months of age. Skeletal and cardiac muscle tissues show hypotrophy of type I muscle fibers and evidence of myofibrillar disorganization (summary by Weterman et al., 2013).
For a discussion of genetic heterogeneity of myofibrillar myopathy, see MFM1 (601419).|OMIM|N|
C5561938|Focal segmental glomerulosclerosis and neurodevelopmental syndrome (FSGSNEDS) is characterized by global developmental delay and renal dysfunction manifest as proteinuria and nephrotic syndrome apparent from infancy or early childhood. Some patients present with renal disease, whereas others present with developmental delay and develop renal disease later in childhood. Renal biopsy shows focal segmental glomerulosclerosis (FSGS), but the course of the disease is variable: some patients have transient proteinuria and others require renal transplant. Neurodevelopmental features are also variable, with some patients having only mildly impaired intellectual development, and others having a severe developmental disorder associated with early-onset refractory seizures or epileptic encephalopathy. Additional features, including feeding difficulties, poor overall growth, and nonspecific dysmorphic facial features, are commonly observed (summary by Assoum et al., 2018 and Weng et al., 2021).|OMIM|N|
C5561939|Ritscher-Schinzel syndrome-4 (RTSC4) is characterized by a constellation of congenital anomalies, including dysmorphic craniofacial features and structural brain anomalies, such as Dandy-Walker malformation (220200), hindbrain malformations, or agenesis of the corpus callosum, associated with global developmental delay and impaired intellectual development. Congenital cardiac defects have been reported in 1 family (summary by Ritscher et al., 1987 and Jeanne et al., 2021).
For a discussion of genetic heterogeneity of Ritscher-Schinzel syndrome, see RTSC1 (220210).|OMIM|N|
C5561940|Immunodeficiency-84 (IMD84) is an autosomal dominant primary immunologic disorder characterized by recurrent sinopulmonary infections from childhood associated with low levels of B cells and impaired early B-cell development. There may also be variable T-cell abnormalities. Patients with IMD84 have increased susceptibility to infection with Epstein-Barr virus (EBV) and may develop lymphoma in adulthood (summary by Yamashita et al., 2021).|OMIM|N|
C5561941|Susceptibility to acute infection (viral)-induced encephalitis-11 (IIAE11) is an autosomal recessive disorder characterized by increased susceptibility to viral encephalitis with neurotropic viruses, such as herpes simplex virus-1 (HSV-1), influenza B virus (IBV), or norovirus (NV), beginning in the first decade of life. The brainstem is specifically affected, suggesting a defect in tissue-specific and cell-intrinsic immunity. The disease is often fatal (summary by Zhang et al., 2018).
For a discussion of genetic heterogeneity of susceptibility to acute infection (viral)-induced encephalitis or encephalopathy, see 610551.|OMIM|N|
C5561942|Microvillus inclusion disease (DIAR12) is a congenital enteropathy characterized by neonatal-onset intractable secretory diarrhea, resulting in severe dehydration and metabolic acidosis. Patients may tolerate limited enteral feeding, but are dependent on total parenteral nutrition (TPN) and require eventual small bowel and/or liver transplantation. Pathologic hallmarks include variable loss of brush-border microvilli, microvillus inclusions, and accumulation of subapical vesicles in villus enterocytes (summary by Wiegerinck et al., 2014).
Another form of microvillus inclusion disease, MVID1 (DIAR2; 251850), is caused by mutation in the MYO5B gene (606540). For a discussion of genetic heterogeneity of diarrhea, see DIAR1 (214700).
Mutations in the STX3 gene that affect only isoform A (STX3A) cause DIAR12, whereas mutations in STX3 affecting both STX3A and isoform B (STX3B), which predominates in retinal tissue, cause a syndrome involving severe early-onset retinal dystrophy and MVID (RDMVID; 619446).|OMIM|N|
C5561943|Retinal dystrophy and microvillus inclusion disease (RDMVID) is characterized by early-onset severe retinal dystrophy in association with intractable congenital diarrhea requiring total parenteral nutrition (TPN). Intestinal biopsies show typical features of microvillus inclusion disease (MVID), including loss of microvilli, microvillus inclusions, and accumulation of subapical vesicles in epithelial cells (Janecke et al., 2021).
Because STX3 isoform B (STX3B) predominates in the retina, mutations in the STX3 gene that affect both isoform A (STX3A) and STX3B cause both retinal and gastrointestinal disease (RDMVID), whereas mutations in STX3 affecting only the STX3A transcript cause only diarrhea (DIAR12; 619445).|OMIM|N|
C5561944|Autosomal recessive cutis laxa type IIE (ARCL2E) is characterized by connective tissue features, including generalized cutis laxa and inguinal hernia, craniofacial dysmorphology, variable mild heart defects, and prominent skeletal features, including craniosynostosis, short stature, brachydactyly, clinodactyly, and syndactyly (Pottie et al., 2021).
For a general phenotypic description and discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (219100).|OMIM|N|
C5561945|Anencephaly-2 (ANPH2) is a severe neural tube defect caused by failure of neural tube closure anteriorly. Features in addition to anencephaly may include frontonasal dysplasia with midline cleft of the upper lip and alveolar ridge, bifid nose, and clinical anophthalmia.
For a discussion of genetic heterogeneity of anencephaly, see ANPH1 (206500).|OMIM|N|
C5561946|Luo-Schoch-Yamamoto syndrome (LUSYAM) is a neurodevelopmental disorder characterized by global developmental delay and impaired intellectual development apparent from infancy. Affected individuals have delayed walking, early-onset seizures, hypotonia, dysmorphic facial features, and white matter abnormalities on brain imaging (Luo et al., 2021).|OMIM|N|
C5561947|Autosomal recessive presynaptic congenital myasthenic syndrome-7B (CMS7B) is characterized by severe generalized muscle weakness apparent from birth; decreased fetal movements may be apparent in utero. Affected infants have generalized hypotonia with poor cry and feeding, head lag, and facial muscle weakness with ptosis. Some patients may have respiratory involvement. Electrophysiologic studies show decreased compound muscle action potentials (CMAPs) and a decremental response to repetitive nerve stimulation. Treatment with 3,4-diaminopyridine and pyridostigmine may result in clinical improvement (summary by Bauche et al., 2020).|OMIM|N|
C5561948|Noncirrhotic portal hypertension-2 (NCPH2) is an autosomal recessive disorder characterized by signs of liver dysfunction that become apparent in the first decades of life. Affected individuals have jaundice, hyperbilirubinemia, pancytopenia, including neutropenia, lymphopenia, and thrombocytopenia, hepatosplenomegaly, and esophageal varices. Some patients may have recurrent infections or features suggestive of an immunodeficiency. Liver biopsy is notable for the absence of cirrhosis and the presence of nodular regeneration. Liver sinusoidal endothelial cells (LSECs) have abnormal expression of CD34 (142230) (summary by Drzewiecki et al., 2021).
For a discussion of genetic heterogeneity of NCPH, see 617068.|OMIM|N|
C5561949|Sick sinus syndrome-4 (SSS4) is characterized by early and progressive sinus node and atrioventricular conduction dysfunction. Patients show bradycardia and chronotropic incompetence, and may experience syncope. Atrioventricular conduction block ranges from mild to severe, and some patients also have intermittent atrial fibrillation. Many require implantation of a pacemaker, but sudden cardiac death has not been reported (Stallmeyer et al., 2017).
For a general phenotypic description and discussion of genetic heterogeneity of sick sinus syndrome, see SSS1 (608567).|OMIM|N|
C5561950|Autosomal recessive visceral neuropathy-2 (VSCN2) is characterized by intestinal dysmotility due to aganglionosis or hypoganglionosis of the colon. Patients also exhibit peripheral axonal neuropathy, ptosis, and sensorineural hearing loss (Le et al., 2021).
For a discussion of genetic heterogeneity of VSCN, see VSCN1 (243180).|OMIM|N|
C5561951|Primary ciliary dyskinesia-47 and lissencephaly (CILD47) is an autosomal recessive disorder characterized by onset of recurrent respiratory infections and respiratory dysfunction caused by defective mucociliary clearance in early childhood. Affected individuals also have neurologic features, such as impaired intellectual development and central hypotonia, associated with structural brain abnormalities, most notably lissencephaly and thin or absent corpus callosum. The disorder results from impaired function of motile ciliopathy and can be classified as 'reduced generation of multiple motile cilia' (RGMC). Situs inversus is not observed (summary by Wallmeier et al., 2021).
For a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400).|OMIM|N|
C5561952|Autosomal dominant Usmani-Riazzudin syndrome (USRISD) is a neurodevelopmental disorder characterized by global developmental delay with impaired intellectual development and speech delay, hypotonia, and behavioral abnormalities, most commonly aggressive behavior. More variable additional features may include seizures and distal limb anomalies (summary by Usmani et al., 2021).|OMIM|N|
C5561953|Nephronophthisis-like nephropathy-2 (NPHPL2) is an autosomal recessive cystic kidney disease characterized by onset of progressive renal insufficiency in the first decades of life. Renal imaging and biopsy show corticomedullary cysts, tubular ectasia, tubular basement membrane disruption, and tubulointerstitial infiltrations. Patients eventually progress to end-stage renal failure, necessitating kidney transplantation or dialysis (summary by Hurd et al., 2013).
For a general phenotypic description and a discussion of genetic heterogeneity of nephronophthisis, see NPHP1 (256100).|OMIM|N|
C5561954|Neurodevelopmental disorder with motor and speech delay and behavioral abnormalities (NEDMOSBA) is an autosomal recessive disorder characterized by global developmental delay apparent from early childhood. There is significant phenotypic variability: some patients achieve walking and talking after a few years, whereas others develop spastic tetraplegia with inability to walk independently and never gain proper speech. Affected individuals may have variable additional features, including poor overall growth, hypotonia, tremor, ocular anomalies, seizures, and nonspecific dysmorphic facial features (summary by Polla et al., 2021).|OMIM|N|
C5561955|VISS syndrome is a generalized connective tissue disorder characterized by early-onset thoracic aortic aneurysm and other connective tissue findings, such as aneurysm and tortuosity of other arteries, joint hypermobility, skin laxity, and hernias, as well as craniofacial dysmorphic features, structural cardiac defects, skeletal anomalies, and motor developmental delay (Van Gucht et al., 2021). Immune dysregulation has been observed in some patients (Ziegler et al., 2021).|OMIM|N|
C5561956|Oculopharyngodistal myopathy-3 (OPDM3) is a neuromyodegenerative disease characterized by progressive muscle weakness with ocular, facial, pharyngeal, and distal limb involvement, resulting in dysarthria and gait difficulties. The onset of the disorder is usually in adulthood, although childhood onset has rarely been reported. Additional features include hyporeflexia, proximal muscle weakness, neck muscle weakness, dysarthria, dysphagia, and ptosis. Some patients may develop pigmentary retinopathy, peripheral neuropathy, or hearing loss. Cognition is usually not affected, but there may be deficits or psychiatric manifestations. Brain imaging tends to show a leukoencephalopathy, often with a characteristic linear signal along the corticomedullary junction on brain imaging. Skin and muscle biopsy show intranuclear inclusions and rimmed vacuoles. Many of the clinical features are reminiscent of NIID, suggesting that these disorders likely fall within a broad phenotypic spectrum of diseases with neuromyodegenerative features associated with abnormal repeat expansions in this gene (summary by Ogasawara et al., 2020 and Yu et al., 2021).
For a discussion of genetic heterogeneity of OPDM, see OPDM1 (164310).|OMIM|N|
C5561957|Developmental delay, impaired speech, and behavioral abnormalities (DDISBA) is characterized by global developmental delay apparent from early childhood. Intellectual disability can range from mild to severe. Additional variable features may include dysmorphic facial features, seizures, hypotonia, motor abnormalities such as Tourette syndrome or dystonia, and hearing loss (summary by Cousin et al., 2021).|OMIM|N|
C5561958|Joubert syndrome-38 (JBTS38) is characterized by hypotonia, global developmental delay, oculomotor apraxia, and breathing abnormalities, with a 'molar tooth sign' on brain MRI. Patients also exhibit pituitary abnormalities with growth hormone deficiency (Stephen et al., 2017).
For a general phenotypic description and discussion of genetic heterogeneity of Joubert syndrome, see JBTS1 (213300).|OMIM|N|
C5561959|Facioscapulohumeral muscular dystrophy-3 (FSHD3) is a digenic muscle disorder characterized by adult onset of proximal muscle weakness affecting the face, neck, scapular muscles, and upper and lower limbs. Muscle involvement is usually asymmetric, and other muscle groups may become involved with progression of the disease (summary by Hamanaka et al., 2020).
For a discussion of genetic heterogeneity of FSHD, see FSHD1 (158900).|OMIM|N|
C5561960|Facioscapulohumeral muscular dystrophy (FSHD) is a skeletal muscle disorder characterized by adult onset of progressive muscle weakness of the face and upper extremity muscles. With disease progression, other muscles also may become affected. There is significant clinical variability and incomplete penetrance (summary by van den Boogaard et al., 2016).
For a discussion of genetic heterogeneity of FSHD, see FSHD1 (158900).|OMIM|N|
C5561961|Short-rib thoracic dysplasia-21 (SRTD21) is characterized by rhizomelic limb shortening with bowing of long bones and metaphyseal abnormalities, narrow chest with short broad ribs, and trident pelvis. Other features include hypotonia and global developmental delay, with corpus callosum hypoplasia and cerebellar vermis abnormalities on brain imaging, which may show the 'molar tooth' sign (Hammarsjo et al., 2017).
For a general phenotypic description and discussion of genetic heterogeneity of SRTD, see SRTD1 (208500).
Mutation in the KIAA0753 gene also causes orofaciodigital syndrome (OFD15; 617127) and Joubert syndrome (JBTS28; 619476), phenotypes with features overlapping those of SRTD21.|OMIM|N|
C5561962|Primary bile acid malabsorption-2 (PBAM2) is an autosomal recessive disorder characterized by chronic diarrhea, severe fat-soluble vitamin deficiency, and features of cholestatic liver disease (Sultan et al., 2018).
For discussion of genetic heterogeneity of primary bile acid malabsorption, see PBAM1 (613291).|OMIM|N|
C5561963|Congenital central hypoventilation syndrome-2 and autonomic dysfunction (CCHS2) is an autosomal recessive disorder characterized by shallow breathing and apneic spells apparent in the neonatal period. Affected infants require mechanical ventilation due to impaired ventilatory response to hypercapnia, as well as tube feeding due to poor swallowing, aspiration, and gastrointestinal dysmotility. Some patients have other features of autonomic dysfunction, including bladder dysfunction, sinus bradycardia, and temperature dysregulation. Although mild global developmental delay with learning difficulties and seizures were present in the single family reported, it was unclear if these features were related to the hypoventilation phenotype (Spielmann et al., 2017).
For a discussion of genetic heterogeneity of CCHS, see CCHS1 (209880).|OMIM|N|
C5561964|Congenital central hypoventilation syndrome-3 (CCHS3) is an autosomal recessive disorder characterized by slow and shallow breathing due to a deficiency in autonomic control of respiration. Affected individuals present in the neonatal period with respiratory insufficiency and absence of the hypercapnic reflex that stimulates breathing. Patients also have gastrointestinal problems manifest as feeding difficulties and diarrhea or constipation. Other features may include poor heat tolerance and paroxysmal hypertension (Hernandez-Miranda et al., 2018).
For a discussion of genetic heterogeneity of CCHS, see CCHS1 (209880).|OMIM|N|
C5561965|Progressive familial intrahepatic cholestasis-6 (PFIC6) is an autosomal recessive disorder characterized by elevated liver transaminases, cholestasis, and congenital diarrhea (Gao et al., 2020).
For a general phenotypic description and a discussion of genetic heterogeneity of PFIC, see PFIC1 (211600).|OMIM|N|
C5561966|Aicardi-Goutieres syndrome-9 (AGS9) is a type I interferonopathy characterized by severe developmental delay and progressive neurologic deterioration. Patients present in infancy with irritability and spasticity. Brain imaging shows diffusely abnormal white matter, cerebral atrophy, and intracranial calcification. Premature death has been associated with renal and/or hepatic failure (Uggenti et al., 2020).
For a general phenotypic description and discussion of genetic heterogeneity of Aicardi-Goutieres syndrome, see AGS1 (225750).|OMIM|N|
C5561967|DEGCAGS syndrome is an autosomal recessive syndromic neurodevelopmental disorder characterized by global developmental delay, coarse and dysmorphic facial features, and poor growth and feeding apparent from infancy. Affected individuals have variable systemic manifestations often with significant structural defects of the cardiovascular, genitourinary, gastrointestinal, and/or skeletal systems. Additional features may include sensorineural hearing loss, hypotonia, anemia or pancytopenia, and immunodeficiency with recurrent infections. Death in childhood may occur (summary by Bertoli-Avella et al., 2021).|OMIM|N|
C5561968|Short stature of the Dauber-Argente type (SSDA) is characterized by progressive postnatal growth failure, moderate microcephaly, thin long bones, and mildly decreased bone density. Patients have elevated circulating levels of total IGF1 (147440) due to impaired proteolysis of IGFBP3 (146732) and IGFBP5 (146734), resulting in reduced free IGF1 (Dauber et al., 2016).|OMIM|N|
C5561969|Parkinson disease-24 (PARK24) is an autosomal dominant disorder characterized by classic Parkinson disease features, including adult onset, asymmetric limb involvement initially, and slowly progressive motor dysfunction. PARK24 shows incomplete penetrance, consistent with the presence of the PSAP mutation being a susceptibility factor for development of the disease (Oji et al., 2020).
For a phenotypic description and a discussion of genetic heterogeneity of Parkinson disease, see 168600.|OMIM|N|
C5561970|CMD2E is characterized by neonatal or early childhood onset of dilated cardiomyopathy, with rapid progression to cardiac failure and death unless patients undergo cardiac transplantation (Vasilescu et al., 2018; Jones et al., 2019).
For a general phenotypic description and a discussion of genetic heterogeneity of dilated cardiomyopathy, see 115200.|OMIM|N|
C5561971|Congenital disorder of glycosylation type 2v (CDG2V) is an autosomal recessive disorder characterized by neurodevelopmental delay and variable facial dysmorphisms (Polla et al., 2021).|OMIM|N|
C5561972|DFNA81 is characterized by postlingual onset of slowly progressive sensorineural hearing loss (Li et al., 2018).|OMIM|N|
C5561973|Ventriculomegaly and arthrogryposis (VENARG) is a severe autosomal recessive congenital disorder characterized by the onset of features in utero that are not compatible with life. Affected pregnancies are terminated spontaneously or by plan due to the severity of the defects. Prenatal ultrasound and autopsy show limb contractures consistent with arthrogryposis and enlarged brain ventricles that may be associated with hydrocephalus, abnormalities of the corpus callosum, and cerebellar hypoplasia. Some affected fetuses may also have congenital heart disease and hydrops fetalis (summary by Mero et al., 2017 and El-Dessouky et al., 2020).|OMIM|N|
C5561974|Neurodevelopmental disorder with hypotonia and dysmorphic facies (NEDHYDF) is characterized by global developmental delay and hypotonia apparent from birth. Affected individuals have variably impaired intellectual development, often with speech delay and delayed walking. Seizures are generally not observed, although some patients may have single seizures or late-onset epilepsy. Most patients have prominent dysmorphic facial features. Additional features may include congenital cardiac defects (without arrhythmia), nonspecific renal anomalies, joint contractures or joint hyperextensibility, dry skin, and cryptorchidism. There is significant phenotypic variability in both the neurologic and extraneurologic manifestations (summary by Tan et al., 2022).|OMIM|N|
C5561975|Chopra-Amiel-Gordon syndrome (CAGS) is an autosomal dominant disorder characterized by developmental delay and/or impaired intellectual development, speech delay, facial dysmorphism, and variable other features, including recurrent bacterial infections, ophthalmologic abnormalities, and nonspecific brain abnormalities (Chopra et al., 2021).|OMIM|N|
C5561976|Immunodeficiency-85 and autoimmunity (IMD85) is an autosomal dominant immunologic disorder characterized by onset of atopic eczema and recurrent respiratory infections in the first decade of life. Affected individuals also develop autoimmune enteropathy with vomiting, diarrhea, and poor overall growth. More variable features may include autoimmune oligoarthritis, interstitial pneumonitis, and EBV viremia. Laboratory studies show hypogammaglobulinemia and abnormal T-cell function, consistent with a combined immunodeficiency (Keskitalo et al., 2019).|OMIM|N|
C5561977|Neurodevelopmental disorder with hypotonia and brain abnormalities (NEDHYBA) is characterized by impaired development of motor skills, cognitive function, and speech acquisition beginning in infancy or early childhood. Some affected individuals may have feeding difficulties, seizures, behavioral abnormalities, and nonspecific dysmorphic facial features. Brain imaging shows variable abnormalities, including corpus callosum defects, cerebellar defects, and decreased white matter volume. There is significant phenotypic variability (summary by Duncan et al., 2021).|OMIM|N|
C5561978|Spermatogenic failure-56 (SPGF56) is characterized by male infertility due to multiple morphologic abnormalities of the flagella (MMAF), resulting in severely reduced sperm motility (Tu et al., 2021).
For a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).|OMIM|N|
C5561979|Neurodevelopmental disorder with seizures and brain abnormalities (NEDSBA) is an autosomal recessive neurologic disorder characterized by global developmental delay and onset of seizures in the first months of life associated with structural brain defects on brain imaging. Additional features may include pigmentary retinopathy with poor visual fixation and spasticity (summary by Duncan et al., 2021).|OMIM|N|
C5561980|Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome (MDHLO) is an autosomal recessive systemic disorder characterized by progressive muscle weakness, sensorineural hearing loss, and endocrine abnormalities, mainly primary amenorrhea due to ovarian insufficiency. Features of the disorder appear soon after birth, although endocrine anomalies are not noted until puberty. The severity of the phenotype is variable: some patients may lose ambulation and have significant respiratory insufficiency, whereas others retain the ability to walk (Foley et al., 2020).|OMIM|N|
C5561981|Charcot-Marie-Tooth disease type 2FF (CMT2FF) is an autosomal dominant progressive axonal sensorimotor peripheral neuropathy characterized by early-childhood onset of difficulties walking or running due to atrophy and weakness of the lower limbs. Most patients have foot and ankle deformities, requiring surgery or walking aids. Some patients lose independent ambulation. There is also prominent involvement of the upper limbs, with weakness and atrophy of the forearm, wrist, and intrinsic hand muscles. Proximal muscle function is preserved. Affected individuals have variable distal sensory impairment. Most patients have hyporeflexia, although brisk reflexes, suggesting upper motor involvement, have been described in 1 family. Sural nerve biopsy showed abnormal myelination (Rebelo et al., 2021).
For a phenotypic description and a discussion of genetic heterogeneity of axonal CMT type 2, see CMT2A (118210).|OMIM|N|
C5561983|Idiopathic generalized epilepsy is characterized by various types of seizures, including childhood and juvenile absence epilepsy, juvenile myoclonic epilepsy, and epilepsy with generalized tonic-clonic seizures upon awakening (EGTCA). EEG often shows spike-wave discharges. EIG18 is an autosomal dominant disorder manifest as myoclonic seizures in infancy. Although the seizures remit, some patients may have later speech or cognitive impairment (summary by Becker et al., 2017 and Campostrini et al., 2018).
For a general phenotypic description and a discussion of genetic heterogeneity of idiopathic generalized epilepsy (IGE), see 600669.|OMIM|N|
C5561984|Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities (NECRC) is an autosomal dominant disorder characterized by dysmorphic craniofacial features associated with mild developmental delay, mildly impaired intellectual development or learning difficulties, speech delay, and behavioral abnormalities. About half of patients have congenital anomalies of the kidney and urinary tract (CAKUT) and/or congenital cardiac defects, including septal defects (Connaughton et al., 2020).|OMIM|N|
C5561985|Sideroblastic anemia-5 (SIDBA5) is an autosomal recessive hematologic disorder characterized by abnormal iron accumulation in the mitochondria or erythroid cells. The pathologic iron deposits appear to ring the nucleus, resulting in a 'ringed sideroblast' on pathologic examination. Affected individuals have congenital hypochromic microcytic anemia apparent in childhood; they may also develop thrombocytopenia or pancytopenia (summary by Crispin et al., 2020).
For a discussion of genetic heterogeneity of sideroblastic anemia, see SIDBA1 (300751).|OMIM|N|
C5561986|Congenital disorder of glycosylation type IIw (CDG2W) is an autosomal dominant metabolic disorder characterized by liver dysfunction, coagulation deficiencies, and profound abnormalities in N-glycosylation of serum specific proteins. All reported patients carry the same mutation (602671.0017) (summary by Ng et al., 2021).
For an overview of congenital disorders of glycosylation, see CDG1A (212065) and CDG2A (212066).|OMIM|N|
C5561987|Pontocerebellar hypoplasia type 16 (PCH16) is an autosomal recessive severe neurodevelopmental disorder characterized by hypotonia and severe global developmental delay apparent from early infancy. Although the severity of the disorder is variable, most affected individuals achieve only a few, if any, developmental milestones. Most are unable to walk or speak, have eye abnormalities with poor visual contact, and develop early-onset epilepsy. Other features may include stereotypic movements, spasticity, and progressive microcephaly. Brain imaging shows pontocerebellar hypoplasia, often with thin corpus callosum, atrophy of the thalamus and basal ganglia, enlarged ventricles, and white matter abnormalities (summary by Ucuncu et al., 2020).
For a phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1A (607596).|OMIM|N|
C5561988|Spermatogenic failure-57 (SPGF57) is characterized by male infertility due to error-prone meiosis of germ cells and spermatogenic arrest at the late pachytene stage (Nagirnaja et al., 2021).
For a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).|OMIM|N|
C5561989|Cone-rod dystrophy-22 (CORD22) is a retinal dystrophy characterized by loss of central vision due to cone photoreceptor degeneration, with onset of symptoms ranging from the first to fifth decades of life. There is significant degeneration of the macula, as well as generalized cone system involvement that predominates over rod system dysfunction, including in the peripheral retina (Bertrand et al., 2021).
For a general phenotypic description and discussion of genetic heterogeneity of CORD, see CORD2 (120970).|OMIM|N|
C5561990|Biliary, renal, neurologic, and skeletal syndrome (BRENS) is an autosomal recessive complex ciliopathy with multisystemic manifestations. The most common presentation is severe neonatal cholestasis that progresses to liver fibrosis and cirrhosis. Most patients have additional clinical features suggestive of a ciliopathy, including postaxial polydactyly, hydrocephalus, retinal abnormalities, and situs inversus. Additional features of the syndrome may include congenital cardiac defects, echogenic kidneys with renal failure, ocular abnormalities, joint hyperextensibility, and dysmorphic facial features. Some patients have global developmental delay. Brain imaging typically shows dilated ventricles, hypomyelination, and white matter abnormalities, although some patients have been described with abnormal pituitary development (summary by Shaheen et al., 2020 and David et al., 2020).|OMIM|N|
C5561991|Cerebral cavernous malformations (CCMs) are vascular malformations in the brain and spinal cord comprising closely clustered, enlarged capillary channels (caverns) with a single layer of endothelium without mature vessel wall elements or normal intervening brain parenchyma. The diameter of CCMs ranges from a few millimeters to several centimeters. CCMs increase or decrease in size and increase in number over time. Hundreds of lesions may be identified, depending on the person's age and the quality and type of brain imaging used. Although CCMs have been reported in infants and children, the majority become evident between the second and fifth decades with findings such as seizures, focal neurologic deficits, nonspecific headaches, and cerebral hemorrhage. Up to 50% of individuals with FCCM remain symptom free throughout their lives. Cutaneous vascular lesions are found in 9% of those with familial cerebral cavernous malformations (FCCM; see Diagnosis/testing) and retinal vascular lesions in almost 5%.|GeneReviews|N|
C5561992|Boudin-Mortier syndrome (BOMOS) is characterized by tall stature, arachnodactyly, disproportionately elongated great toes, and multiple extra epiphyses. Some patients also show joint hypermobility and dilation of the aortic root (Boudin et al., 2018).
Mutation in the NPR2 gene (108961) results in a similar phenotype of increased stature and elongation of the digits, particularly of the great toes, with multiple extra epiphyses (epiphyseal chondrodysplasia, Miura type; 615923).|OMIM|N|
C5561993|Hypoplastic femurs and pelvis (HYPOFP) is characterized by congenital isolated bilateral hypoplasia of the femoral and pelvic bones (Socha et al., 2021).|OMIM|N|
C5561994|Autosomal recessive Usmani-Riazzudin syndrome (USRISR) is a neurodevelopmental disorder characterized by global developmental delay with impaired intellectual development and speech delay, hypotonia, spasticity, and behavioral abnormalities, most commonly aggressive behavior. More variable additional features may include seizures, scoliosis, and joint laxity (Usmani et al., 2021).|OMIM|N|
C5561995|Immunodeficiency-86 (IMD86) is an autosomal recessive immunologic disorder characterized by susceptibility to mycobacterial disease after exposure to BCG vaccine. Affected individuals usually develop localized mycobacterial lymphadenopathy that can be successfully treated without subsequent episodes (summary by Kong et al., 2018).|OMIM|N|
C5561996|DFNB118 is characterized by congenital profound sensorineural hearing loss and cochlear aplasia (Bademci et al., 2020).|OMIM|N|
C5561997|Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies (IDDHISD) is characterized by global developmental delay with impaired intellectual development and poor or absent speech, hypotonia, ophthalmologic abnormalities, and nonspecific dysmorphic features. Some affected individuals have seizures, and a few have involvement of other organ systems (Goodman et al., 2021).|OMIM|N|
C5561998|SIMHA syndrome is characterized by short stature, impaired intellectual development, microcephaly, hypotonia, and ocular anomalies. Inter- and intrafamilial phenotypic variability has been observed (Kambouris et al., 2014; Zahra et al., 2020).|OMIM|N|
C5561999|Developmental and epileptic encephalopathy-97 (DEE97) is characterized by developmental delay, epileptic encephalopathy, and impaired intellectual development. Other clinical features may include autistic features and hypotonia.
For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350.|OMIM|N|
C5562000|Joubert syndrome-39 (JBTS39) is an autosomal recessive neurodevelopmental disorder with variable manifestations. Most affected individuals have developmental delay with poor speech and retinal dystrophy with abnormal eye movements. Brain imaging shows the pathognomonic 'molar tooth sign,' which reflects abnormal cerebellar formation (Van De Weghe et al., 2021).
For a discussion of genetic heterogeneity of Joubert syndrome, see JBTS1 (213300).|OMIM|N|
C5562001|Dystonia-31 (DYT31) is an autosomal recessive progressive neurologic disorder characterized by involuntary muscle twisting movements and postural abnormalities affecting the upper and lower limbs, neck, face, and trunk. Some patients may have orofacial dyskinesia resulting in articulation and swallowing difficulties. The age at onset ranges from childhood to young adulthood. There are usually no additional neurologic symptoms, although late-onset parkinsonism was reported in 1 family (summary by Zech et al., 2022).|OMIM|N|
C5562002|Autosomal recessive limb-girdle muscular dystrophy-27 (LGMDR27) is characterized by progressive muscle weakness primarily affecting the lower limbs and resulting in walking difficulty or loss of ambulation. The age at onset is highly variable, from infancy to young adulthood. Patients with infantile onset may have a more severe disease course with rapid progression. Upper limb involvement and distal muscle weakness may also occur. Additional more variable features include neck muscle weakness, scoliosis, and joint contractures. Less common features include impaired intellectual development or speech delay, cardiomyopathy, and cardiac arrhythmia. Muscle biopsy shows nonspecific dystrophic changes (Coppens et al., 2021).
For a discussion of genetic heterogeneity of autosomal recessive limb-girdle muscular dystrophy, see LGMDR1 (253600).|OMIM|N|
C5562003|Axonal Charcot-Marie-Tooth disease type 2HH (CMT2HH) is an autosomal dominant peripheral neuropathy characterized predominantly by onset of vocal cord weakness resulting in stridor in infancy or early childhood. The vocal cord paresis remains throughout life and may be severe enough to require tracheostomy. Additional features of the disorder usually include pes cavus and scoliosis. Some patients have mild distal muscle weakness and atrophy primarily affecting the lower limbs, although the upper limbs may also be involved, and distal sensory impairment, often with hyporeflexia (Sullivan et al., 2020).
For a discussion of genetic heterogeneity of axonal CMT, see CMT2A1 (118210).|OMIM|N|
C5562004|Developmental delay with or without intellectual impairment or behavioral abnormalities (DDIB) is an autosomal dominant disorder with a nonspecific phenotype of developmental delay. Additional features may include neonatal feeding problems, hypotonia, and dysmorphic facial features (Dulovic-Mahlow et al., 2019; van Woerden et al., 2021).|OMIM|N|
C5562005|Cerebellar ataxia, brain abnormalities, and cardiac conduction defects (CABAC) is an autosomal recessive primarily neurologic disorder with variable manifestations. Common features included infantile-onset hypotonia, poor motor development, poor feeding and overall growth, and ataxic gait due to cerebellar ataxia. Other features include dysarthria, nystagmus, variable ocular anomalies, spasticity, hyperreflexia, and nonspecific dysmorphic features. Most, but not all, patients have global developmental delay with impaired intellectual development and speech delay. Brain imaging shows cerebellar hypoplasia, often with brainstem hypoplasia, enlarged ventricles, delayed myelination, and thin corpus callosum. A significant number of patients develop cardiac conduction defects in childhood or adolescence, often requiring pacemaker placement (summary by Slavotinek et al., 2020).|OMIM|N|
C5562006|Neurodevelopmental disorder with impaired language and ataxia and with or without seizures (NEDLAS) is characterized by axial hypotonia and global developmental delay apparent in early infancy. Affected individuals have delayed walking with gait ataxia and poor language development. Behavioral abnormalities also commonly occur. The severity is highly variable: a subset of patients have a more severe phenotype with early-onset seizures resembling epileptic encephalopathy, inability to walk or speak, and hypomyelination on brain imaging (summary by Stolz et al., 2021).|OMIM|N|
C5562007|Joubert syndrome-40 (JBTS40) is an autosomal recessive neurodevelopmental disorder characterized by developmental delay, postaxial polydactyly, subtle midline notching or clefting of the upper lip, hypotonia, and the 'molar tooth sign' on brain imaging. Affected individuals do not exhibit retinal or renal anomalies, or significant obesity (Zhongling et al., 2021).
For a discussion of genetic heterogeneity of Joubert syndrome, see JBTS1 (213300).|OMIM|N|
C5562008|Spermatogenic failure-58 (SPGF58) is characterized by male infertility due to multiple morphologic abnormalities of the flagella (MMAF). Sperm are immotile or show severely reduced progressive motility due to short and irregular caliber flagella as well as bent, coiled, and absent flagella. Head abnormalities have also been observed, including acrosomal and postacrosomal defects (Lores et al., 2021).
For a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).|OMIM|N|
C5562009|Generalized intermediate epidermolysis bullosa simplex-2B (EBS2B) is an autosomal dominant disorder of skin in which intraepidermal blistering occurs after minor mechanical trauma. Skin blistering is generalized, begins at birth, and is worsened by heat, humidity, and sweating. The tendency to blistering diminishes in adolescence, when it may become localized to hands and feet. Intermediate EBS has previously been known as the Koebner type (summary by Has et al., 2020).
For a discussion of genetic heterogeneity of the subtypes of EBS, see EBS1A (131760).
Reviews
Has et al. (2020) reviewed characteristic features and molecular bases of the subtypes of epidermolysis bullosa, and provided a consensus reclassification of disorders with skin fragility.|OMIM|N|
C5562010|Cataract-49 (CTRCT49) is characterized by congenital cataract located in the posterior region of the lens. Visual impairment has onset in early childhood (Sun et al., 2019).|OMIM|N|
C5562011|Epidermolysis bullosa simplex (EBS) is characterized by fragility of the skin (and mucosal epithelia in some instances) that results in non-scarring blisters and erosions caused by minor mechanical trauma. EBS is distinguished from other types of epidermolysis bullosa (EB) or non-EB skin fragility syndromes by the location of the blistering in relation to the dermal-epidermal junction. In EBS, blistering occurs within basal keratinocytes. The severity of blistering ranges from limited to hands and feet to widespread involvement. Additional features can include hyperkeratosis of the palms and soles (keratoderma), nail dystrophy, milia, and hyper- and/or hypopigmentation. Rare EBS subtypes have been associated with additional clinical features including pyloric atresia, muscular dystrophy, cardiomyopathy, and/or nephropathy.|GeneReviews|N|
C5562012|Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities (DEHMBA) is an early-onset neurodevelopmental disorder characterized by these features. Affected individuals also have nonspecific and variable dysmorphic facial features that do not constitute a recognizable gestalt. Although the disorder is caused by truncating mutations in the SRCAP gene as is FLHS, the DEHMBA phenotype is clinically distinguishable from FLHS by the lack of short stature, brachydactyly, and delayed bone age, as well as absence of a specific facial appearance. There are some overlapping features between the 2 disorders, mainly impaired intellectual development and speech delay (summary by Rots et al., 2021).|OMIM|N|
C5562013|The Ain-Naz type of rhizomelic dysplasia (RHZDAN) is characterized by severe short stature with marked rhizomelic shortening of the limbs, platyspondyly, and large hands and feet relative to height (Ain et al., 2021).|OMIM|N|
C5562014|Epidermolysis bullosa simplex (EBS) is characterized by fragility of the skin (and mucosal epithelia in some instances) that results in non-scarring blisters and erosions caused by minor mechanical trauma. EBS is distinguished from other types of epidermolysis bullosa (EB) or non-EB skin fragility syndromes by the location of the blistering in relation to the dermal-epidermal junction. In EBS, blistering occurs within basal keratinocytes. The severity of blistering ranges from limited to hands and feet to widespread involvement. Additional features can include hyperkeratosis of the palms and soles (keratoderma), nail dystrophy, milia, and hyper- and/or hypopigmentation. Rare EBS subtypes have been associated with additional clinical features including pyloric atresia, muscular dystrophy, cardiomyopathy, and/or nephropathy.|GeneReviews|N|
C5562015|Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies (FARIMPD) is an autosomal recessive syndrome characterized by hypotonia in utero resulting in fetal akinesia with generalized joint contractures and arthrogryposis at birth. Affected newborns have severe respiratory insufficiency at birth requiring ventilation and significant dysmorphic facial features; seizures may also occur. Brain imaging shows variable malformations of cortical development, most commonly polymicrogyria or other gyral anomalies. Death in infancy usually occurs (summary by Monteiro et al., 2020).|OMIM|N|
C5562016|Galloway-Mowat syndrome-9 (GAMOS9) is an autosomal recessive disorder characterized by onset of nephrotic syndrome with proteinuria in infancy or early childhood. The renal disease is slowly progressive, but some affected individuals may develop end-stage renal disease in the first decade. Renal biopsy shows focal segmental glomerulosclerosis (FSGS) or diffuse mesangial sclerosis (DMS). Affected individuals also have developmental delay and secondary microcephaly. Additional features may include facial dysmorphism and gastroesophageal reflux. Early death may occur (Arrondel et al., 2019).
For a discussion of genetic heterogeneity of GAMOS, see GAMOS1 (251300).|OMIM|N|
C5562017|Developmental and epileptic encephalopathy-98 (DEE98) is characterized by onset of seizures in the first decade (range infancy to late childhood) associated with variable global developmental delay. Other features may include hypotonia, spasticity, and quadriparesis. Brain imaging may be normal or show nonspecific and variable abnormalities, including polymicrogyria. The severity is variable; some patients may die of refractory status epilepticus (summary by Vetro et al., 2021).
For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350.|OMIM|N|
C5562018|Developmental and epileptic encephalopathy-99 (DEE99) is characterized by onset of seizures in early childhood associated with global developmental delay and severely impaired intellectual development. Other features may include hypotonia, quadriparesis, nystagmus, and apnea. Brain imaging may be normal or show nonspecific and variable abnormalities, including cerebral atrophy and polymicrogyria. The severity is variable; some patients die of refractory status epilepticus (summary by Vetro et al., 2021).
For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350.|OMIM|N|
C5562019|Visceral heterotaxy-11 (HTX11) is characterized by a failure to generate normal left-right visceral asymmetry during embryogenesis, which can result in heterotaxy syndrome or situs inversus totalis. Affected individuals may experience mild chronic respiratory symptoms, but do not fulfill the criteria for primary ciliary dyskinesia (see 244400). Male infertility associated with reduced flagellar motility has been reported (Dougherty et al., 2020).
For a discussion of genetic heterogeneity of visceral heterotaxy, see HTX1 (306955).|OMIM|N|
C5562020|Galloway-Mowat syndrome-10 (GAMOS10) is a severe autosomal recessive disorder characterized by onset of symptoms soon after birth. Affected individuals have progressive renal dysfunction with proteinuria associated with diffuse mesangial sclerosis (DMS) on renal biopsy. Other features include global developmental delay, microcephaly, hypothyroidism, arachnodactyly, and dysmorphic facial features. Some patients may have seizures or abnormalities on brain imaging. All reported patients have died in infancy (summary by Arrondel et al., 2019 and Schmidt et al., 2021).
For a general phenotypic description and a discussion of genetic heterogeneity of GAMOS, see GAMOS1 (251300).|OMIM|N|
C5562021|Interstitial lung disease (ILD) comprises a heterogeneous group of rare diseases affecting the distal part of the lung and characterized by a progressive remodeling of the alveolar interstitium. The manifestations form a spectrum ranging from idiopathic interstitial pneumonia (IIP) or pneumonitis to the more severe idiopathic pulmonary fibrosis (IPF). IPF is associated with an increased risk of developing lung cancer, which occurs in a subset of patients with ILD. Clinical features of ILD include dyspnea, clubbing of the fingers, and restrictive lung capacity. Imaging typically shows ground glass opacities and inter- and intraseptal thickening, while histologic studies usually show a pattern consistent with 'usual interstitial pneumonia' (UIP) (summary by Nathan et al., 2016, Doubkova et al., 2019).
Genetic Heterogeneity of Interstitial Lung Disease
See also ILD2 (178500), caused by mutation in the SFTPA2 gene (178642) on chromosome 10q22.|OMIM|N|
C5562022|Retinitis pigmentosa-92 (RP92) is characterized by relatively mild disease, with onset of night blindness and vision loss in the third to sixth decades of life. Patients show abnormal pigmentation of the retina and have reduced scotopic responses on electroretinography (Zhang et al., 2018).
For a general phenotypic description and discussion of genetic heterogeneity of RP, see 268000.|OMIM|N|
C5562023|Autosomal recessive deafness-119 (DFNB119) is characterized by nonsyndromic mild to profound sensorineural hearing loss (Richard et al., 2021).|OMIM|N|
C5562024|Neurodevelopmental disorder with hearing loss and spasticity (NEDHLS) is characterized by hearing loss, global developmental delay/impaired intellectual development, spastic-dystonic cerebral palsy, focal or generalized epilepsy, and microcephaly. Some children present with hypotonia (Richard et al., 2021).|OMIM|N|
C5562025|PI4KA-related disorder is a clinically variable disorder characterized primarily by neurologic dysfunction (limb spasticity, developmental delay, intellectual disability, seizures, ataxia, nystagmus), gastrointestinal manifestations (multiple intestinal atresia, inflammatory bowel disease), and combined immunodeficiency (leukopenia, variable immunoglobulin defects). Age of onset is typically antenatal or in early childhood; individuals can present with any combination of these features. Rare individuals present with later-onset hereditary spastic paraplegia. Brain MRI findings can include hypomyelinating leukodystrophy, cerebellar hypoplasia/atrophy, thin or dysplastic corpus callosum, and/or perisylvian polymicrogyria.|GeneReviews|N|
C5562026|Immunodeficiency-88 (IMD88) is an autosomal recessive immune disorder characterized specifically by the development of disseminated mycobacterial disease following vaccination with BCG. The single patient described did not develop other clinical infectious diseases, although serology documented exposure to various viruses and bacteria. Immunologic workup shows defective development of certain innate immunologic cells and decreased production of gamma-interferon (IFNG; 147570). Additional manifestations include persistent reactive airway disease associated with increased production of Th2 cytokines (summary by Yang et al., 2020 and Yang et al., 2021).|OMIM|N|
C5562027|Immunodeficiency-89 and autoimmunity (IMD89) is an autosomal recessive immune disorder characterized by adult onset of recurrent infections, allergies, microcytic anemia, and Crohn disease (see 266600) (Yang et al., 2020).|OMIM|N|
C5562028|Acromesomelic dysplasia-4 (AMD4) is characterized by disproportionate short stature due to mesomelic shortening of the limbs. Radiographic hallmarks include mild to moderate platyspondyly, moderate brachydactyly, iliac flaring, and metaphyseal alterations of the long bones that progressively increase with age (Diaz-Gonzalez et al., 2022).
For a discussion of genetic heterogeneity of acromesomelic dysplasia, see AMD1 (602875).|OMIM|N|
C5562029|Dystonia-32 (DYT32) is an autosomal recessive neurologic disorder characterized by sustained or intermittent muscle contractions causing abnormal movements or posturing. The onset of symptoms is in adulthood, and the disorder is slowly progressive with eventual generalized involvement of the limbs, trunk, neck, and larynx, resulting in dysarthria and dysphagia. Brain imaging may show abnormalities in the basal ganglia. There are no additional neurologic signs or symptoms (summary by Monfrini et al., 2021).
In a review of the pathogenesis of disorders with prominent dystonia, Monfrini et al. (2021) classified DYT32 as belonging to a group of neurologic disorders termed 'HOPS-associated neurologic disorders' (HOPSANDs), which are caused by mutations in genes encoding various components of the autophagic/endolysosomal system, including VPS11.|OMIM|N|
C5562030|Spondylometaphyseal dysplasia Pagnamenta type (SMDP) is characterized by short stature and mild platyspondyly with no disproportion between the limbs. Mild metaphyseal changes are present (Pagnamenta et al., 2022).|OMIM|N|
C5562031|Neurodevelopmental disorder with hypotonia and gross motor and speech delay (NEDHMS) is an autosomal recessive disorder characterized by severe global developmental delay apparent from infancy. Affected individuals have axial hypotonia and limited ability to walk, including some who are nonambulatory with lower limb spasticity, impaired intellectual development, and poor or absent speech and language. Additional more variable features may include seizures, behavioral problems, distal skeletal anomalies, and dysmorphic facial features (Melo et al., 2021).|OMIM|N|
C5562032|Hengel-Maroofian-Schols syndrome (HEMARS) is an autosomal recessive neurodevelopmental disorder characterized by severe global developmental delay apparent from infancy or early childhood. Affected individuals have delayed walking or inability to walk, impaired intellectual development with poor or absent speech, pyramidal signs manifest as lower limb spasticity, poor overall growth often with short stature and microcephaly, and dysmorphic facial features. Some patients develop seizures. Brain imaging shows thinning of the posterior part of the corpus callosum, delayed myelination, and cerebral and cerebellar atrophy (Hengel et al., 2021).|OMIM|N|
C5562033|Oocyte/zygote/embryo maturation arrest-11 (OZEMA11) is characterized by reduced or absent fertility and poor embryonic outcomes with assisted reproductive technology. Oocytes with multiple sperm heads and multiple pronuclei have been observed after overnight in vitro fertilization (Maddirevula et al., 2022).
For a general phenotypic description and a discussion of genetic heterogeneity of OZEMA, see 615774.|OMIM|N|
C5562034|Spermatogenic failure-59 (SPGF59) is characterized by male infertility due to nonobstructive azoospermia. Testicular biopsy shows maturation arrest (Salas-Huetos et al., 2021).
For a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).|OMIM|N|
C5562035|Spermatogenic failure-60 (SPGF60) is characterized by male infertility due to nonobstructive azoospermia. Testicular biopsy shows maturation arrest before the pachytene stage (Krausz et al., 2020).
For a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).|OMIM|N|
C5562036|Autosomal recessive dyskinesia with orofacial involvement (DSKOR) is characterized by the onset of abnormal involuntary movements, mainly affecting the limbs and causing walking difficulties, in the first decade. The severity is variable; some patients have orofacial dyskinesia resulting in speech difficulties, or develop neuropsychiatric features, including anxiety and social withdrawal. Cardiomyopathy has rarely been described and may be a manifestation of the disorder (summary by Bohlega et al., 2019).|OMIM|N|
C5562037|Zaki syndrome (ZKS) is characterized by developmental delay, progressive microcephaly, and short stature, as well as dysmorphic features including sparse scalp hair, cupped ears, wide nose and mouth, short philtrum, and high-arched palate. Other variable features have been observed, including ocular, skeletal, cardiac, and renal anomalies (Chai et al., 2021).|OMIM|N|
C5562038|Neurodevelopmental disorder with hyperkinetic movements and dyskinesia (NEDHYD) is an autosomal recessive complex neurologic disorder characterized by severe global developmental delay with axial hypotonia, impaired intellectual development, poor overall growth, and abnormal involuntary hyperkinetic movements, including dystonia, myoclonus, spasticity, and orofacial dyskinesia. It is the most severe manifestation of ADCY5-related dyskinetic disorders (summary by Okamoto et al., 2021 and Kaiyrzhanov et al., 2021).|OMIM|N|
C5562039|Immunodeficiency-92 (IMD92) is an autosomal recessive primary immunodeficiency characterized by the onset of recurrent infections in infancy or early childhood. Infectious agents are broad, including bacterial, viral, fungal, and parasitic, including Cryptosporidium and Mycobacteria. Patient lymphocytes show defects in both T- and B-cell proliferation, cytokine secretion, and overall function, and there is also evidence of dysfunction of NK, certain antigen-presenting cells, and myeloid subsets. Hematopoietic stem cell transplantation may be curative (summary by Beaussant-Cohen et al., 2019 and Levy et al., 2021).|OMIM|N|
C5562040|Nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonus (NEDSTO) is an autosomal recessive complex neurologic disorder characterized by delay of gross motor milestones, particularly walking, associated with axial hypotonia and peripheral spasticity apparent from infancy or early childhood. Affected individuals often show transient opisthotonic posturing in infancy, and later show abnormal involuntary movements, including chorea, dystonia, and dyspraxia. Some patients have impaired intellectual development, although the severity is highly variable; most have speech delay and articulation difficulties and a happy overall demeanor. Brain imaging shows myelination defects in some patients. The disorder is nonprogressive, and many patients may catch up developmentally in the second or third decades (summary by Wagner et al., 2020).|OMIM|N|
C5562041|Loeys-Dietz syndrome (LDS) is characterized by vascular findings (cerebral, thoracic, and abdominal arterial aneurysms and/or dissections), skeletal manifestations (pectus excavatum or pectus carinatum, scoliosis, joint laxity, arachnodactyly, talipes equinovarus, cervical spine malformation and/or instability), craniofacial features (widely spaced eyes, strabismus, bifid uvula / cleft palate, and craniosynostosis that can involve any sutures), and cutaneous findings (velvety and translucent skin, easy bruising, and dystrophic scars). Individuals with LDS are predisposed to widespread and aggressive arterial aneurysms and pregnancy-related complications including uterine rupture and death. Individuals with LDS can show a strong predisposition for allergic/inflammatory disease including asthma, eczema, and reactions to food or environmental allergens. There is also an increased incidence of gastrointestinal inflammation including eosinophilic esophagitis and gastritis or inflammatory bowel disease. Wide variation in the distribution and severity of clinical features can be seen in individuals with LDS, even among affected individuals within a family who have the same pathogenic variant.|GeneReviews|N|
C5562042|Multiple types of congenital heart defects-8 (CHTD8) is characterized by cardiac septal defects, double-outlet right ventricle, unbalanced complete atrioventricular canal, and valvular anomalies, as well as vascular anomalies including dextroposition of the great arteries, anomalous pulmonary venous return, and superior vena cava to left atrium defect. Patients may also exhibit laterality defects, including dextrocardia, atrial isomerism, dextrogastria, left-sided gallbladder, and intestinal malrotation (Zaidi et al., 2013; Granadillo et al., 2018).|OMIM|N|
C5562043|Progressive intrahepatic cholestasis-7 with or without hearing loss (PFIC7) is an autosomal recessive liver disorder characterized by infantile-onset jaundice and itching associated with cholestasis, elevated alanine aminotransferase (ALT) and aspartate aminotransferase (AST), and normal gamma glutamyltransferase (GGT). Liver biopsy shows hepatocellular and canalicular cholestasis with fibrotic changes. Many patients have resolution of the liver abnormalities with age, although some may have persistent liver enzyme abnormalities or splenomegaly. A subset of patients develops hearing loss in childhood between early infancy and the teenage years. Rifampicin may be effective for pruritis (summary by Maddirevula et al., 2019).
For a discussion of genetic heterogeneity of PFIC, see PFIC1 (211600).|OMIM|N|
C5562044|Hereditary diffuse leukoencephalopathy with spheroids-2 (HDLS2) is an autosomal dominant neurodegenerative disorder characterized by progressive cognitive and executive dysfunction, psychiatric disturbances, and neurologic symptoms, such as gait abnormalities, paresis, seizures, and rigidity. Symptom onset is usually in adulthood, although earlier onset has been reported. Some patients have an acute encephalopathic course with severe neurologic decline resulting in early death, whereas other patients have a more protracted and chronic disease course. Neuropathologic examination shows a leukoencephalopathy with axonal spheroids and myelination defects (summary by Sundal et al., 2012).
For a discussion of genetic heterogeneity of HDLS, see HDLS1 (221820).|OMIM|N|
C5562045|Progressive familial intrahepatic cholestasis-8 (PFIC8) is an autosomal recessive disorder characterized by cholestasis and high gamma-glutamyltransferase presenting in the infantile period (summary by Unlusoy Aksu et al., 2019).
For a general phenotypic description and a discussion of genetic heterogeneity of PFIC, see PFIC1 (211600).|OMIM|N|
C5562046|Ovarian dysgenesis-9 (ODG9) is characterized by severe nonsyndromic primary ovarian insufficiency with primary amenorrhea, hypoplastic or absent ovaries, and delayed bone age. Patient cells show evidence of chromosomal instability (Smirin-Yosef et al., 2017; Heddar et al., 2022).
For a general phenotypic description and discussion of genetic heterogeneity of ovarian dysgenesis, see ODG1 (233300).|OMIM|N|
C5562048|Spermatogenic failure-61 (SPGF61) is characterized by male infertility due to nonobstructive azoospermia, resulting from complete meiotic arrest at the primary spermatocyte stage (Riera-Escamilla et al., 2019;van der Bijl et al., 2019).
Mutation in the STAG3 gene also causes premature ovarian failure (POF8; 615723), resulting in female infertility.
For a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).|OMIM|N|
C5562049|Spermatogenic failure-62 (SPGF62) is characterized by male infertility due to nonobstructive azoospermia, resulting from complete metaphase arrest at the spermatocyte stage (Riera-Escamilla et al., 2019).
For a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).|OMIM|N|
C5562050|Marbach-Schaaf neurodevelopmental syndrom (MASNS) is characterized by global developmental delay with speech delay and behavioral abnormalities, including autism spectrum disorder and ADHD. Affected individuals also show movement disorders, such as dyspraxia and apraxia. More variable features include high pain tolerance, sleep disturbances, and variable nonspecific dysmorphic features (summary by Marbach et al., 2021).|OMIM|N|
C5562051|Early-onset dystonia and/or spastic paraplegia (DYTSPG) is an autosomal dominant neurologic movement disorder characterized by phenotypic variability, even within the same family. Some patients have onset of progressive focal and generalized dystonia in the first decade, as young as infancy, whereas others develop progressive spastic paraplegia as adults, suggesting that age affects the phenotype. Some patients have manifestations of both disorders. Most patients have ambulation difficulties (Gilbert et al., 2009). Rare patients may show hypotonia and neurodevelopmental delay (Zech et al., 2022).|OMIM|N|
C5562052|Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis (NEDMSC) is an autosomal recessive disorder characterized by severely impaired global development apparent from infancy, progressive microcephaly, and neonatal cholestasis manifest as jaundice and elevated liver enzymes. The liver disease resolves, but affected individuals show feeding difficulties, failure to thrive, hypotonia, seizures, hyperkinetic movements, irritability, and poor eye contact or vision, and achieve almost no motor or cognitive developmental milestones. Brain imaging demonstrates agenesis or hypoplasia of the corpus callosum. Death in early childhood may occur (summary by Schneeberger et al., 2021).|OMIM|N|
C5562053|Autosomal recessive spastic paraplegia-85 (SPG85) is a neurologic disorder characterized by the onset of motor symptoms in the first few years of life. Affected individuals have spasticity and hyperreflexia of the lower limbs resulting in gait abnormalities. Older patients may have upper limb involvement and demonstrate axonal polyneuropathy. Additional features include optic atrophy, dysarthria, dysphagia, ataxia, and urinary incontinence. Brain imaging may show cerebellar atrophy (summary by Wagner et al., 2019).
For a discussion of genetic heterogeneity of autosomal recessive spastic paraplegia, see SPG5A (270800).|OMIM|N|
C5562054|Dystonia-33 (DYT33) is a neurologic disorder characterized by onset of focal or generalized dystonia in the first decades of life (from early childhood to adolescence). The disorder is slowly progressive and may result in ambulation difficulties, dysarthria, or dysphagia. There is variable expressivity even with a family, as well as incomplete penetrance of the phenotype. Most mutations are in the heterozygous state, but a homozygous mutation with autosomal recessive inheritance has been reported, indicating variable patterns of transmission of DYT33. Some patients may have a more complex neurologic disorder with motor delay, lower limb spasticity, mild developmental delay with cognitive impairments, and nonspecific brain imaging abnormalities. There may be an exacerbation of the symptoms coinciding with viral infection or stress. Deep brain stimulation (DBS) may be therapeutic (summary by Kuipers et al., 2021).|OMIM|N|
C5562055|Spermatogenic failure-63 (SPGF63) is characterized by male infertility due to severe oligozoospermia with markedly reduced progressive motility (Tu et al., 2020).
For a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).|OMIM|N|
C5562056|Brunet-Wagner neurodevelopmental syndrome (BRUWAG) is an autosomal recessive disorder characterized by infantile hypotonia and severely impaired development affecting both motor and cognitive skills. Affected individuals either do not achieve independent ambulation or walk with an unsteady gait; those who walk may lose the ability due to spasticity of the lower limbs. They have absent language, poor or absent social skills, and behavioral abnormalities. Most have variable ocular findings, including nystagmus, strabismus, optic atrophy, myopia, or hypermetropia (summary by Brunet et al., 2020 and Samra et al., 2021).|OMIM|N|
C5562057|Nonphotosensitive trichothiodystrophy-8 (TTD8) is characterized by brittle hair and nails and scaly skin, accompanied by failure to thrive, microcephaly, and neuromotor developmental delay. Hair analysis shows low sulfur content, and skin fibroblasts demonstrate normal DNA repair efficiency after UV irradiation (Botta et al., 2021).
For a general phenotypic description and discussion of genetic heterogeneity of trichothiodystrophy, see TTD1 (601675).|OMIM|N|
C5562058|Nonphotosensitive trichothiodystrophy-9 (TTD9) is characterized by brittle hair and nails and scaly skin, accompanied by failure to thrive, microcephaly, and neuromotor developmental delay. Hair analysis shows low sulfur content, and skin fibroblasts demonstrate normal DNA repair efficiency after UV irradiation (Botta et al., 2021).
For a general phenotypic description and discussion of genetic heterogeneity of trichothiodystrophy, see TTD1 (601675).|OMIM|N|
C5562059|Agammaglobulinemia-9 (AGM9) is an autosomal recessive primary immunodeficiency characterized by recurrent bacterial infections associated with agammaglobulinemia and absence of circulating B cells. Additional features include failure to thrive and skin involvement. The severity is variable: more severe cases may require hematopoietic stem cell transplantation, whereas others can be treated effectively with Ig replacement therapy (summary by Anzilotti et al., 2019).
For a discussion of genetic heterogeneity of autosomal agammaglobulinemia, see AGM1 (601495).|OMIM|N|
C5562060|Developmental delay with variable neurologic and brain abnormalities (DENBA) is characterized most often by motor and speech delay apparent from early childhood. Most patients have delayed walking and variably impaired intellectual development. Additional neurologic features may include seizures, spasticity, and ocular abnormalities. Brain imaging often shows thin corpus callosum and may show white matter atrophy, myelination abnormalities, or enlarged ventricles. The severity of the disorder and clinical manifestations are highly variable (summary by Malhotra et al., 2021).|OMIM|N|
C5562061|Rauch-Steindl syndrome (RAUST) is characterized by poor pre- and postnatal growth, sometimes with short stature and small head circumference, characteristic dysmorphic facial features, and variable developmental delay with delayed motor and speech acquisition and impaired intellectual function that can be mild. Other features may include hypotonia and behavioral abnormalities. The phenotype represents a mild form of Wolf-Hirschhorn syndrome (WHS; 194190), which is a contiguous gene deletion syndrome caused by heterozygous deletion of several genes on chromosome 4p16. The clinical features of RAUST are similar to but milder than those of WHS, with less severe dysmorphic facial features, less severe developmental disabilities in general, and absence of a seizure disorder. The phenotype and expressivity of RAUST is highly variable (summary by Rauch et al., 2001; Zanoni et al., 2021).|OMIM|N|
C5562062|Spermatogenic failure-64 (SPGF64) is characterized by male infertility due to oligoasthenoteratozoospermia or nonobstructive azoospermia. Some patients have absent sperm due to meiotic arrest at the diplotene stage, whereas others show low sperm counts and reduced progressive motility, and spermatozoa have enlarged amorphous heads (Ma et al., 2019; Wu et al., 2022).
Mutation in the FBXO43 gene can also cause female infertility due to early embryonic arrest (see OOMD12, 619697).
For a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).|OMIM|N|
C5562063|Oocyte/zygote/embryo maturation arrest-12 (OZEMA12) is characterized by female infertility due to early embryonic arrest (Wang et al., 2021).
Mutation in the FBXO43 gene can also cause male infertility due to spermatogenic failure (see SPGF64, 619696).
For a general phenotypic description and discussion of genetic heterogeneity of OZEMA, see 615774.|OMIM|N|
C5562064|Mucopolysaccharidosis type X (MPS10) is an autosomal recessive childhood-onset disorder associated with disproportionate short-trunk short stature and skeletal, cardiac, and ophthalmologic abnormalities (Verheyen et al., 2022).|OMIM|N|
C5562065|Ferguson-Bonni neurodevelopmental syndrome (FERBON) is an autosomal recessive disorder characterized by global developmental delay, impaired intellectual development, and hypotonia with early motor delay. Additional features may include dysmorphic facies, mild skeletal abnormalities, and hearing loss (summary by Ferguson et al., 2022).|OMIM|N|
C5562066|Yoon-Bellen neurodevelopmental syndrome (YOBELN) is an autosomal recessive disorder characterized mainly by global developmental delay with variably impaired intellectual development. The manifestations and severity of the phenotype are highly variable. Additional neurologic features may include hypotonia, spasticity, ataxia, hearing loss, visual problems, seizures, and nonspecific anomalies on brain imaging (summary by Yap et al., 2021).|OMIM|N|
C5562067|Spermatogenic failure-65 (SPGF65) is characterized by male infertility due to asthenoteratozoospermia. Progressive sperm motility is severely reduced or absent, and patients exhibit multiple morphologic abnormalities of the flagella (MMAF), including coiled, irregular-caliber, short, and absent flagella. Abnormalities of the flagellar midpiece are also present (Tan et al., 2022).
For a general phenotypic description and discussion of genetic heterogeneity of SPGF, see SPGF1 (258150).|OMIM|N|
C5562068|Autosomal dominant congenital disorder of glycosylation type Iw (CDG1WAD) is characterized by variable skeletal anomalies, short stature, macrocephaly, and dysmorphic features; about half of patients have impaired intellectual development. Additional features include increased muscle tone and muscle cramps (Wilson et al., 2021).|OMIM|N|
C5562069|Autosomal recessive primary microcephaly-28 (MCPH28) is characterized by reduced head size (down to -8 SD) and variably impaired intellectual development apparent from early childhood (summary by Farooq et al., 2020).
For a discussion of genetic heterogeneity of primary microcephaly, see MCPH1 (251200).|OMIM|N|
C5562070|Immunodeficiency-87 and autoimmunity (IMD87) is an autosomal recessive immunologic disorder with wide phenotypic variation and severity. Affected individuals usually present in infancy or early childhood with increased susceptibility to infections, often Epstein-Barr virus (EBV), as well as with lymphadenopathy or autoimmune manifestations, predominantly hemolytic anemia. Laboratory studies may show low or normal lymphocyte numbers, often with skewed T-cell subset ratios. The disorder results primarily from defects in T-cell function, which causes both immunodeficiency and overall immune dysregulation (summary by Serwas et al., 2019 and Fournier et al., 2021).|OMIM|N|
C5562072|Visceral heterotaxy-10 (HTX10) is characterized by a failure to generate normal left-right visceral asymmetry during embryogenesis, which can result in heterotaxy syndrome or situs inversus totalis. Affected individuals may experience mild chronic respiratory symptoms, but do not fulfill the criteria for primary ciliary dyskinesia (see 244400). Male infertility has been reported (Ta-Shma et al., 2015; Dougherty et al., 2020).
For a discussion of genetic heterogeneity of visceral heterotaxy, see HTX1 (306955).|OMIM|N|
C5562073|Immunodeficiency-91 and hyperinflammation (IMD91) is an autosomal recessive complex immunologic disorder characterized by both immunodeficiency and recurrent infections, often to viruses or mycobacteria, as well as by hyperinflammation with systemic involvement. Affected individuals present in infancy with variable features, including fever, infection, thrombocytopenia, renal or hepatic dysfunction, recurrent infections, or seizures. Most patients eventually develop hepatic or renal failure, compromised neurologic function, lymphadenopathy or hepatosplenomegaly, and multiorgan failure resulting in death. More variable features may include intermittent monocytosis, features of hemophagocytic lymphohistiocytosis (HLH), and serologic evidence of hyperinflammation. The disorder is thought to result from dysregulation of the interferon response to viral stimulation in the innate immune system (summary by Le Voyer et al., 2021; Vavassori et al., 2021).|OMIM|N|
C5562074|Hypomyelinating leukodystrophy-23 with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy (HLD23) is an autosomal recessive neurodegenerative disorder with systemic manifestations. Affected individuals show delayed motor development and ataxic gait in early childhood that progresses to spastic paraplegia with loss of ambulation in the first decades of life. Additional features include progressive sensorineural hearing loss resulting in deafness, hepatic dysfunction with elevated liver enzymes, and dilated cardiomyopathy that ultimately results in death in the first or second decades. Brain imaging shows hypomyelination, diffuse white matter abnormalities consistent with leukodystrophy, and thin corpus callosum (summary by Sferra et al., 2021).
For a general phenotypic description and a discussion of genetic heterogeneity of HLD, see 312080.|OMIM|N|
C5562075|Congenital central hypoventilation syndrome (CCHS) represents the extreme manifestation of autonomic nervous system dysregulation (ANSD) with the hallmark of disordered respiratory control. The age of initial recognition of CCHS ranges from neonatal onset (i.e., in the first 30 days of life) to (less commonly) later onset (from 1 month to adulthood). Neonatal-onset CCHS is characterized by apparent hypoventilation with monotonous respiratory rates and shallow breathing either during sleep only or while awake as well as asleep; ANSD including decreased heart rate beat-to-beat variability and sinus pauses; altered temperature regulation; and altered pupillary response to light. Some children have altered development of neural crest-derived structures (i.e., Hirschsprung disease, altered esophageal motility/dysphagia, and severe constipation even in the absence of Hirschsprung disease) and/or tumors of neural crest origin (neuroblastoma, ganglioneuroma, and ganglioneuroblastoma). Neurocognitive delay is variable, and possibly influenced by cyanotic breath holding, prolonged sinus pauses, need for 24-hour/day artificial ventilation, and seizures. Later-onset CCHS is characterized by alveolar hypoventilation during sleep and attenuated manifestations of ANSD.|GeneReviews|N|
C5562082|Chromosome 16q12 duplication syndrome is characterized by early-onset progressive cone dystrophy, with early blue cone involvement. Patients report reduced visual acuity in the first decade of life, as well as difficulty differentiating colors, photophobia, and reduced night vision (Kohl et al., 2021).
Tritanopia can also be caused by heterozygous mutation in the OPN1SW gene (613522) on chromosome 7q32 (see 190900).|OMIM|N|
C5562112|X-linked form of anosmia, isolated congenital.|MONDO|N|
C5562114|Proximal 1p36 deletion syndrome is a multisystem developmental disorder characterized by global developmental delay with impaired intellectual development, poor overall growth with microcephaly, axial hypotonia, and dysmorphic facial features. Most patients have congenital cardiac malformations or cardiac dysfunction. Additional more variable features may include distal skeletal anomalies, seizures, and cleft palate. The phenotype shows some overlap with distal chromosome 1p36 deletion syndrome (summary by Kang et al., 2007).|OMIM|N|
C5563270|An irregular wavy appearance of sperm acrosomes.|HPO|N|
C5563355|A developmental defect characterized by failure to develop of the pituitary stalk. The pituitary stalk, also known as the infundibulum or infundibular stalk, is the connection between the hypothalamus and the pituitary gland.|HPO|N|
C5563366|Spurs at the medial and lateral acetabular margin and in the center of the acetabulum gives rise to shape resembling a three-pronged spear known as trident.|HPO|N|
C5563603|A type of mild median cleft lip in which the central tubercle of the upper lip is replaced by a mucosal cleft in the midline.|HPO|N|
C5566296|A calculation using actual body weight divided by usual body weight and expressed as a percentage.|SNOMEDCT_US|N|
C5566308|The stated length of the body.|SNOMEDCT_US|N|
C5566390|The skin fold thickness over the triceps muscle expressed as a percentile.|SNOMEDCT_US|N|
C5566391|The standard deviation score for the skin fold thickness over the triceps muscle.|SNOMEDCT_US|N|
C5566393|The standard deviation score for mid upper arm circumference.|SNOMEDCT_US|N|
C5566394|The muscle area of the upper arm expressed as a percentile.|SNOMEDCT_US|N|
C5566395|The ratio of actual body mass index (BMI) to the upper limit body mass index (BMI) of 25.|SNOMEDCT_US|N|
C5566529|A rare genetic coagulation disorder characterized by the usually incidental laboratory finding of a prolonged activated partial thromboplastin time (aPTT) but normal prothrombin time, due to a deficiency of normal prekallikrein or the presence of nonfunctional prekallikrein. Most patients remain clinically asymptomatic, although an association with cardiovascular conditions (hypertension, myocardial infarction, other coronary artery diseases, and ischemic strokes) and venous thrombosis, as well as rare cases with increased bleeding tendency have been reported.|SNOMEDCT_US|N|
C5566552|A rare, neural tube defect characterized by localized longitudinal division of the spinal cord with an interposed osseous, cartilaginous or fibrous septum and double dural sac, typically occurring at the thoracic or lumbar level. Local vertebral segmental defects, syringomyelia, meningocele and intraspinal tumors may be associated. Variable clinical presentation includes pain, scoliosis, asymmetry and weakness of the lower limbs, neurological deficits, sphincter dysfunction, and various cutaneous abnormalities overlying the spine, such as hypertrichosis, dimple, hemangioma, subcutaneous mass or pigmented nevus.|SNOMEDCT_US|N|
C5566555|An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity.|SNOMEDCT_US|N|
C5566557|Carcinoma of the gallbladder (GBC) is the most common and aggressive form of biliary tract cancer (BTC; see this term) usually arising in the fundus of the gallbladder, rapidly metastasizing to lymph nodes and distant sites.|ORDO|N|
C5566613|A rare congenital atrioventricular valve malformation characterized by fixed or mobile accessory tissue on the tricuspid valve, usually associated with other complex congenital heart anomalies (atrial septal defect, ventricular septal defect, transposition of great arteries, tetralogy Fallot). It may present clinically with systolic murmur, dyspnea, cyanosis, depending also on accompanying congenital heart anomaly.|SNOMEDCT_US|N|
C5566616|Infective dermatitis associated with HTLV-1 is a rare and severe chronic disease characterised by recurrent chronic eczema (with erythematous, scaly and crusted lesions) mainly affecting seborrhoeic areas (e.g. scalp, forehead, eyelids, paranasal and periauricular skin, neck, axillae, and groin), a generalised fine papular rash, chronic nasal discharge with crusting of the anterior nares, and non-virulent Staphylococcus aureus or beta-hemolytic Streptococcus infections, thought to be a result of HTLV-1-induced immunosuppression. Lymphadenopathy, anaemia, mild to moderate pruritus and increased incidence of other infections (e.g. crusted scabies) have also been reported in some patients. Patients may subsequently develop other HTLV-1 associated conditions such as adult T-cell leukaemia/lymphoma and tropical spastic paraparesis.|SNOMEDCT_US|N|
C5566628|The capacity to clean hands with soap and water to reduce contamination and/or the spread of disease.|SNOMEDCT_US|N|
C5566629|The availability of a toileting facility to keep waste from contaminating food and/or water.|SNOMEDCT_US|N|
C5566630|Availability of water that meets guidelines for safe drinking water.|SNOMEDCT_US|N|
C5566634|Availability of cold food storage.|SNOMEDCT_US|N|
C5566636|Access to affordable sources of acceptable and safe food to meet nutrition needs.|SNOMEDCT_US|N|
C5566660|X-linked recessive form of disease.|MONDO|N|
C5566661|X-linked dominant form of disease.|MONDO|N|
C5566893|Intact skin with nonblanching erythema.|SNOMEDCT_US|N|
C5566919|A rare, congenital, non-syndromic, developmental defect during embryogenesis with characteristics of positioning of the heart in the right hemithorax, with the base and apex of the heart pointing caudally and to the right, due to abnormalities of embryologic origin that are intrinsic to the heart itself. Situs inversus or situs solitus may be associated, with extracardiac visceral transposition anomalies usually present in the former case and additional cardiac defects (e.g. septal defects, transposition of the great arteries, double-outlet right ventricles, anomalous pulmonary venous return, tetralogy of Fallot) frequently observed in both cases.|SNOMEDCT_US|N|
C5566921|A rare genetic non-syndromic, congenital limb malformation disorder with characteristics of painless, non-traumatic, non-neurogenic, often bilateral, permanent flexion contracture at the proximal interphalangeal joint of a postaxial finger, resulting in permanent volar inclination of the affected digit. The fifth finger is always involved, but additional digits might also be affected.|SNOMEDCT_US|N|
C5566924|Diminished ability to acquire a sufficient quantity of safe drinking water.|SNOMEDCT_US|N|
C5566930|Lack of a current nutrition problem and/or finding warranting a nutrition intervention.|SNOMEDCT_US|N|
C5566932|Thoughts about body shape that dominate thinking.|SNOMEDCT_US|N|
C5566933|Food and/or nutrition objective that cannot be achieved.|SNOMEDCT_US|N|
C5566951|The subject''s belief about the severity of their risk of a health condition.|SNOMEDCT_US|N|
C5566952|The subject''s belief that they have a food and/or nutrition based health condition and/or are at high-risk for developing a food and/or nutrition based health condition.|SNOMEDCT_US|N|
C5566953|The subject''s belief about an impediment to adopting a food and/or nutrition behavior.|SNOMEDCT_US|N|
C5566954|The probability of the subject performing the food and/or nutrition behavior.|SNOMEDCT_US|N|
C5566955|The subject''s confidence in their ability to perform a food and/or nutrition related behaviour.|SNOMEDCT_US|N|
C5566956|The subject''s belief in their power to change a food and/or nutrition behaviour.|SNOMEDCT_US|N|
C5566957|The acceptance that the reward of food and/or nutrition behaviour change are worth the sacrifice and effort.|SNOMEDCT_US|N|
C5567075|Foreign accent syndrome is a rare motor speech disorder characterised by a speech pattern that results in accent changes perceived as new and different to their native accent. The aetiology is unclear but occurs most commonly following structural neurological damage e.g. cerebrovascular accident but has also been associated with a functional neurological aetiology.|SNOMEDCT_US|N|
C5567226|A rare syndromic genetic deafness with characteristics of congenital hearing loss, atresia or stenosis of the external auditory canal, dilated internal auditory canal, malformation of the inner ear (incomplete separation of the cochlea basal turn from the fundus of the internal auditory canal), in combination with abnormal auricular shape and facial dysmorphism (including thick eyebrows, ptosis, broad nasal root, and telecanthus). Intelligence is normal and developmental delay is absent.|SNOMEDCT_US|N|
C5567228|A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of global developmental delay and moderate to severe intellectual disability, as well as variable other manifestations, such as macro- or microcephaly, epilepsy, hypotonia, stereotypic movements and facial dysmorphism (including arched eyebrows, long palpebral fissures, prominent nasal bridge, upturned nose, dysplastic ears, and broad mouth). Brain imaging may show cerebellar anomalies, hypoplastic corpus callosum, enlarged ventricles, polymicrogyria or white matter abnormalities.|SNOMEDCT_US|N|
C5567229|A rare genetic neurological disorder with characteristics of early-onset severe global developmental delay with regression, congenital or acquired microcephaly, hearing loss, truncal hypotonia, appendicular spasticity, and dystonia and/or myoclonus. Additional reported manifestations include seizures, optic atrophy, cortical visual impairment, scoliosis, and dysphagia. Brain imaging shows pontine hypoplasia, partial agenesis of the corpus callosum, and diffuse cerebral atrophy with relative sparing of the cerebellum.|SNOMEDCT_US|N|
C5567234|A rare inflammatory optic neuropathy with characteristics of severe and persistent pain followed by subacute visual loss, a relapsing-remitting course and steroid-dependence. Involvement of both optic nerves is common and is usually sequential. Serum antibodies against aquaporin 4 are absent in most cases. Magnetic resonance imaging shows contrast enhancement of the acutely inflamed optic nerves.|SNOMEDCT_US|N|
C5567236|A rare overgrowth syndrome with characteristics of long and slim body habitus and multiple skeletal manifestations, such as scoliosis, macrodactyly of the big toes, arachnodactyly of fingers and toes, camptodactyly and clinodactyly, and progressive valgus deformities of the feet. Epimetaphyseal dysplasia, bowing of the tibia and dysmorphic facial features (hypertelorism, high palate, or micrognathia) along with aortic root dilatation and umbilical hernia have also been reported.|SNOMEDCT_US|N|
C5567241|A rare primary bone dysplasia with characteristics of reduced bone mineral density (defined as a Z score below -2.0), vertebral compression fractures, and recurrent peripheral fractures caused by low-impact trauma, leading to bone pain and impaired mobility. Patients typically become symptomatic in childhood or adolescence.|SNOMEDCT_US|N|
C5567242|Multifocal atherosclerosis (polyvascular disease) is defined as the presence of atherosclerosis in two or more arterial beds.|SNOMEDCT_US|N|
C5567317|Monosodium glutamate symptom complex comprises of a set of symptoms with onset after ingestion of monosodium glutamate. The symptoms include migraine headache, urticaria, angioedema or rhinitis.|SNOMEDCT_US|N|
C5567450|A rare autosomal dominant hereditary axonal motor and sensory neuropathy with characteristics of adult onset of slowly progressive distal muscle weakness and atrophy, sensory impairment, and hyporeflexia beginning in the lower limbs. Progressive gait disturbance may lead to loss of independent ambulation in some patients at a higher age.|SNOMEDCT_US|N|
C5567451|A rare genetic neurodegenerative disease with characteristics of neonatal to infantile onset of hypotonia, developmental delay, regression of motor skills with distal amyotrophy, ataxia, and spasticity, absent speech or dysarthria, and moderate to severe cognitive impairment. Optic atrophy may also be associated. Brain imaging shows cerebellar atrophy and thin corpus callosum, as well as brain iron accumulation in the pallidum and substantia nigra beginning during the second decade of life.|SNOMEDCT_US|N|
C5567452|A rare complex hereditary spastic paraplegia with characteristics of neonatal to infantile onset of progressive spasticity in the lower limbs, hyperreflexia, tip-toe walking, pes equinus, and delayed motor developmental milestones. Kyphoscoliosis becomes evident in older patients, and most patients show atrophy of the lateral aspects of the tongue. Additional signs may include intellectual disability, language impairment, and moderate upper limb involvement.|SNOMEDCT_US|N|
C5567453|A rare genetic skeletal muscle disease with characteristics of neonatal to childhood onset of slowly progressive muscle weakness and atrophy primarily affecting the lower limbs, joint contractures, kyphosis or lordosis of the spine, lateral tongue atrophy, and pes equinus. In addition progression to upper limb involvement, facial weakness, language impairment, intellectual disability, and behavioural abnormalities has been reported. Muscle biopsy shows myopathic changes with increased fibre size variation, internalised nuclei, fibre atrophy, as well as rod structures and core targetoid defects.|SNOMEDCT_US|N|
C5567454|A rare severe early-onset neurodegenerative encephalopathy with main characteristic developmental delay/regression, epilepsy, cortical atrophy, secondary hypomyelination and thin corpus callosum. Additional features include secondary microcephaly, hypotonia, spasticity, optic atrophy and skeletal anomalies. This syndrome is caused by biallelic pathogenic variants in TBCD gene (17q25.3), encoding tubulin folding co-factor D (TBCD), one of five co-chaperones required for microtubule assembly dynamics. The pattern of inheritance is autosomal recessive.|SNOMEDCT_US|N|
C5567455|A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of global developmental delay, intellectual disability, absent scrotum or labia majora, absent or underdeveloped nipples and a tuft of hair extruding from the lactiferous ducts, bilateral corneal opacities, and dysmorphic craniofacial features (microcephaly, short forehead, and ear abnormalities, among others). Patients also show horizontal nystagmus and ataxic gait. Brain MRI reveals small cerebellar hemispheres and vermis and a small pons.|SNOMEDCT_US|N|
C5567456|A rare leukodystrophy characterized by infantile onset of lower limb spasticity and severe developmental delay associated with delayed myelination and periventricular white matter abnormalities. Other reported signs and symptoms include microcephaly, optic atrophy, nystagmus, ataxia, or seizures.|SNOMEDCT_US|N|
C5567463|A rare genetic hyperkinetic movement disorder with predominant characteristics of chorea of variable severity associated with bilateral striatal abnormalities on cerebral MRI. The disease is not progressive and cognitive performance is preserved in the majority of cases, although mild cognitive delay has also been reported.|SNOMEDCT_US|N|
C5567464|Infantile-onset limb and orofacial dyskinesia is an autosomal recessive neurologic disorder characterized by delayed motor development and onset of a hyperkinetic movement disorder in the first year of life. The disorder results in impaired walking and orofacial dyskinesia with difficulty talking; the severity is variable (summary by Diggle et al., 2016).|OMIM|N|
C5567465|A rare genetic disease with characteristics of progressive and severe sensorineural hearing loss with onset in the first decade of life, associated with mild thrombocytopenia, often with enlarged platelets. Most patients do not show significant bleeding tendency.|SNOMEDCT_US|N|
C5567466|A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of developmental delay with mild intellectual disability, short stature, facial dysmorphism (such as sparse hair, high forehead, deep-set eyes, short and upslanting palpebral fissures, short nose, anteverted nares, wide nasal base with broad nasal tip and broad columella, long philtrum, thin upper lip, and low-set, posteriorly rotated ears) and variable onset of sensorineural hearing loss and retinitis pigmentosa. Additional features are other ocular anomalies, abnormalities of the fingers, hypothyroidism, and signs of premature aging. Brain imaging shows cerebellar atrophy and dysmyelination.|SNOMEDCT_US|N|
C5567467|A rare idiopathic interstitial pneumonia with characteristics of prominent subpleural and parenchymal fibroelastosis and pleural fibrosis, predominantly involving the upper lobes. Signs and symptoms include non-productive cough, dyspnoea, and recurrent respiratory infections. Pneumothorax is a frequently reported complication. Pulmonary function test reveals a restrictive pattern and reduced diffusing capacity. Computed tomography shows pleural thickening with signs of fibrosis (traction bronchiectasis, architectural distortion and loss of volume) and reticulation.|SNOMEDCT_US|N|
C5567477|A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of global developmental delay, intellectual disability, hypotonia, seizures and autism spectrum disorder. Variable associated features include ophthalmologic anomalies, congenital heart defects, genitourinary defects and craniofacial dysmorphism (including frontal bossing, epicanthal folds, low-set, posteriorly rotated ears, anteverted nares and micrognathia). Brain imaging may show thinning of the corpus callosum, white matter abnormalities, ventriculomegaly and a small cerebellar vermis.|SNOMEDCT_US|N|
C5567479|A rare congenital disorder of glycosylation with characteristics of early onset of hypotonia, severe global developmental delay, intellectual disability, and seizures. Ataxia, mild facial dysmorphism and autistic behaviour have also been reported. Brain MRI findings are variable and include cerebral atrophy, cerebellar hypoplasia/atrophy and thin corpus callosum.|SNOMEDCT_US|N|
C5567480|Infantile hypotonia with psychomotor retardation and characteristic facies-3 is a severe autosomal recessive neurodevelopmental disorder with onset at birth or in early infancy. Most affected individuals show very poor, if any, normal psychomotor development, poor speech, and inability to walk independently (summary by Bhoj et al., 2016).
For a general phenotypic description and a discussion of genetic heterogeneity of infantile hypotonia with psychomotor retardation and characteristic facies, see IHPRF1 (615419).|OMIM|N|
C5567481|A rare multiple congenital anomalies with intellectual disability syndrome with characteristics of infantile onset of global developmental delay, severe intellectual disability, growth deficiency, microcephaly, strabismus, blue-grey sclerae and extensive Mongolian spots. Some patients also present with epilepsy. Brain imaging may demonstrate variable abnormalities including cerebral atrophy, thin corpus callosum, ventriculomegaly or arachnoid cysts.|SNOMEDCT_US|N|
C5567482|A rare genetic neurological disorder with characteristics of infantile to childhood onset of global developmental delay, hypotonia, seizures, growth delay, and intellectual disability. Additional variable features include strabismus, cortical visual impairment, nystagmus, movement disorder (such as dystonia, ataxia, or chorea) or mild dysmorphic features.|SNOMEDCT_US|N|
C5567483|Spastic paraplegia-76 is an autosomal recessive neurologic disorder characterized by young-adult onset of slowly progressive spasticity of the lower limbs resulting in gait difficulties. Most affected individuals have upper limb involvement and additional features such as foot deformities and dysarthria. Cognition is unaffected (summary by Gan-Or et al., 2016).
For a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive spastic paraplegia, see SPG5A (270800).|OMIM|N|
C5567484|A rare frontonasal dysplasia with characteristics of a craniofacial phenotype comprising frontal bossing with high anterior hairline, ptosis, hypertelorism, epicanthus inversus, flat nasal bridge and broad nasal tip. Large anterior fontanel, sagittal synostosis, and cranial base anomalies have also been described.|SNOMEDCT_US|N|
C5567486|Charcot-Marie-Tooth disease type 2W is an autosomal dominant neurologic disorder characterized by a peripheral neuropathy mainly affecting the lower limbs and resulting in gait difficulties and distal sensory impairment, although most patients also have upper limb involvement. The age at onset is highly variable, ranging from childhood to late adulthood (summary by Safka Brozkova et al., 2015).
For a phenotypic description and a discussion of genetic heterogeneity of axonal CMT, see CMT2A1 (118210).|OMIM|N|
C5567487|Split-foot malformation with mesoaxial polydactyly (SFMMP) is characterized by a split-foot defect and nail abnormalities of the hands, as well as hearing loss in some patients (Spielmann et al., 2016).|OMIM|N|
C5567488|A rare genetic retinal disorder with characteristics of bilateral iris coloboma, progressive retinal dystrophy and marked loss of vision, with or without congenital cataracts. Iridolenticular adhesions, scattered retinal pigmented epithelia mottling and mild hypermetropic astigmatism may be associated.|SNOMEDCT_US|N|
C5567489|A rare genetic female infertility with characteristics of oocyte maturation arrest during any of the various stages of meiosis I or II. In some patients, first polar body oocytes may be retrieved, but these either shows fertilisation failure or early embryonic arrest. Affected women have regular menstrual cycles.|SNOMEDCT_US|N|
C5567510|Microcephaly, congenital cataract, and psoriasiform dermatitis (MCCPD) represents an inborn error of cholesterol metabolism that is characterized by accumulation of a large amount of methylsterols, particularly dimethylsterols, in affected patients. The associated features of immune dysregulation, skin disease, and growth delay can be at least partially corrected with cholesterol and statin supplements (He et al., 2014).|OMIM|N|
C5567515|A rare autosomal dominant hereditary axonal motor and sensory neuropathy with characteristics of childhood onset of slowly progressive distal muscle weakness and atrophy primarily affecting the lower limbs, associated with sensory impairment and ataxia presenting with an unsteady, broad-based gait and frequent falls. Additional signs include decreased deep tendon reflexes and hand tremor.|SNOMEDCT_US|N|
C5567518|A rare genetic motor neuron disease with characteristics of decreased or absent fetal movements, congenital proximal and distal joint contractures (consistent with arthrogryposis multiplex congenita) and multiple congenital fractures of the long bones. Further manifestations are neonatal respiratory distress, severe muscular hypotonia, areflexia, dysphagia, congenital heart defects, and dysmorphic facial features. Muscle biopsy shows increased fibre-size variation and grouping of larger type I fibres. The disease is usually fatal in infancy due to respiratory failure.|SNOMEDCT_US|N|
C5567519|A rare teratologic disease with characteristics of variable congenital anomalies resulting from maternal treatment and prenatal exposure to propylthiouracil. Anomalies frequently encountered include ear malformations (e.g. accessory auricle, preauricular sinus/fistula/cyst), urinary system malformations (e.g. isolated unilateral kidney, congenital hydronephrosis), gastrointestinal anomalies (e.g. congenital bands with intestinal malrotation) and cardiac defects (e.g. situs inversus dextrocardia, cardiac outflow tract defects).|SNOMEDCT_US|N|
C5567520|A rare genetic disease with characteristics of congenital contractures of the distal interphalangeal joints, progressive stiffness of the shoulders and neck, keloid scarring, increased optic cup-to-disc ratio and renal stones. Additional reported features include arthritis, osteoporosis, hypoplastic flexion creases, clinodactyly, anxiety, facial dysmorphism (such as sloping forehead, prominent supraorbital ridges, downslanting palpebral fissures, prominent ears, high arched palate). Female carriers exhibit a variable milder phenotype.|SNOMEDCT_US|N|
C5567521|Distal myopathy-5 (MPD5) is an autosomal recessive, slowly progressive muscle disorder characterized by adolescent onset of distal muscle weakness and atrophy predominantly affecting the lower limbs. Other features include facial weakness and hyporeflexia. Patients remain ambulatory even after long disease duration (summary by Park et al., 2016).|OMIM|N|
C5567522|A rare genetic neurological disorder with characteristics of mild to severe developmental delay and speech impairment, truncal hypotonia, abnormalities of vision (including cortical visual impairment and abnormal visual-evoked potentials), progressive brain atrophy mainly affecting the cerebellum, and shortened or atrophic corpus callosum. Other clinical findings may include increased muscle tone in the extremities, dystonic posturing, hyporeflexia, scoliosis, postnatal microcephaly and variable facial dysmorphism (e.g. deep-set eyes, gingival hyperplasia, short philtrum and retrognathia).|SNOMEDCT_US|N|
C5567523|A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of global developmental delay, intellectual disability and dysmorphic facial features including facial asymmetry, prominent forehead, short palpebral fissures, low nasal bridge, smooth and long philtrum, thin upper lip, low-set posteriorly rotated dysplastic ears exclusively affecting females. Additional reported manifestations include short stature, choanal atresia, scoliosis, congenital ocular, dental, cardiac and urogenital anomalies, along with hypotonia, seizures and structural brain abnormalities.|SNOMEDCT_US|N|
C5567524|Individuals with TANGO2-related metabolic encephalopathy and arrhythmias can present in acute metabolic crisis (hypoglycemia, elevated lactate, mild hyperammonemia) or with developmental delay, regression, and/or seizures. The acute presentation varies from profound muscle weakness, ataxia, and/or disorientation to a comatose state. Individuals can present with intermittent acute episodes of rhabdomyolysis. The first episode of myoglobinuria has been known to occur as early as age five months. Acute renal tubular damage due to myoglobinuria can result in acute kidney injury and renal failure. During acute illness, transient electrocardiogram changes can be seen; the most common is QT prolongation. Life-threatening recurrent ventricular tachycardia or torsade de pointes occurs primarily during times of acute illness. Individuals who do not present in metabolic crises may present with gait incoordination, progressively unsteady gait, difficulty with speech, or clumsiness. Intellectual disability of variable severity is observed in almost all individuals. Seizures are observed outside the periods of crises in more than 75% of individuals. Hypothyroidism has been reported in more than one third of individuals.|GeneReviews|N|
C5567525|A rare syndromic constitutional thrombocytopenia characterised by thrombocytopenia with increased bleeding tendency (leading to epistaxis, menorrhagia, and petechiae), in combination with myelofibrosis and splenomegaly. Platelets may be abnormally large or small and partly hypo or agranular, plasma thrombopoietin is elevated, and the number of megakaryocytes in the bone marrow increased. Additional non-haematologic manifestations have been described in some patients, including mild bone abnormalities and facial dysmorphism with large forehead, hypertelorism, deep-set eyes and wide nostrils.|SNOMEDCT_US|N|
C5567526|A rare localised variant of Guillain-Barré syndrome characterised by rapidly progressive bilateral facial nerve palsy, distal paraesthesia and minimal or no motor weakness. Deep tendon reflexes are usually diminished or absent but can be present or even exaggerated in rare cases. Cerebrospinal fluid analysis may reveal albuminocytologic dissociation. Nerve conduction velocity studies often show demyelinating type of neuropathy although axonal polyneuropathy has been also described.|SNOMEDCT_US|N|
C5567527|A rare genetic lethal multiple congenital anomalies syndrome with characteristics of hydranencephaly and diaphragmatic hernia along with macrocephaly, a widely open anterior fontanel, scaphoid abdomen and hypotonia. Additionally, congenital heart defects, polyhydramnios and pulmonary hypertension have also been associated.|SNOMEDCT_US|N|
C5567603|A rare genetic neurometabolic disease with characteristics of global developmental delay, severe hypotonia, seizures, cataracts, cardiomyopathy (including left or bi-ventricular hypertrophy, dilated cardiomyopathy) and left ventricular non-compaction, typically resulting in infantile or early-childhood death. The usual presentation is metabolic lactic acidosis, failure to thrive, head lag, respiratory problems and decrease in respiratory chain complex activity. Highly variable cerebral abnormalities have been reported and include microcephaly, prominent extra-axial cerebrospinal fluid spaces, diffuse neuronal loss and cortical/white matter gliosis.|SNOMEDCT_US|N|
C5567605|A rare mitochondrial oxidative phosphorylation disorder with characteristics of neonatal onset of hypotonia, feeding difficulties, deafness, and early fatal respiratory failure. Cardiac and liver involvement has been reported. Serum lactate is increased and metabolic studies show decreased activity of mitochondrial respiratory complexes I and IV in skeletal muscle.|SNOMEDCT_US|N|
C5567607|A rare mitochondrial oxidative phosphorylation disorder with characteristics of microcephaly, global developmental delay, spastic-dystonic movement disorder, intractable seizures, optic atrophy, autonomic dysfunction and peripheral neuropathy. Serum lactate is increased, and muscle biopsy shows decreased activity of mitochondrial respiratory complexes I and III. Brain imaging reveals progressive cerebellar atrophy and delayed myelination.|SNOMEDCT_US|N|
C5567608|Combined oxidative phosphorylation deficiency-27 (COXPD27) is an autosomal recessive multisystem disorder characterized mainly by neurologic features, including delayed development, seizures, abnormal movements, and neurologic regression. Age at onset, ranging from infancy to late childhood, and severity are variable. Other features include hypotonia, myoclonus, brain imaging abnormalities, and evidence of mitochondrial dysfunction in skeletal muscle. Liver dysfunction has also been reported (summary by Samanta et al., 2018).
For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060).|OMIM|N|
C5567644|A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of global developmental delay, axial hypotonia, palate abnormalities (including cleft palate and/or high and narrow palate), dysmorphic facial features (including prominent forehead, hypertelorism, downslanting palpebral fissures, wide nasal bridge, thin lips and widely spaced teeth) and short stature. Additional manifestations may include digital anomalies (such as brachydactyly, clinodactyly and hypoplastic toenails) a single palmar crease, lower limb hypertonia, joint hypermobility along with ocular and urogenital anomalies.|SNOMEDCT_US|N|
C5567647|Immunodeficiency-42 is an autosomal recessive primary immunodeficiency characterized by increased susceptibility to mycobacterial and candidal infections beginning in infancy. Patients vaccinated with BCG are particularly at risk for developing disseminated mycobacterial infections (summary by Okada et al., 2015).|OMIM|N|
C5567650|Seizures, cortical blindness, and microcephaly syndrome (SCBMS) is an autosomal recessive neurodevelopmental disorder characterized by microcephaly, early-onset seizures, severely delayed psychomotor development, and cortical blindness. Affected individuals also tend to show poor overall growth with short stature (summary by Ercan-Sencicek et al., 2015).|OMIM|N|
C5567651|Recurrent gastrointestinal ulceration with dysfunctional platelets (GURDP) is an autosomal recessive disorder characterized by onset of severe gastrointestinal mucosal ulceration in early childhood. Affected individuals may have secondary iron deficiency anemia or malnourishment. Studies of platelet aggregation show a functional defect associated with decreased thromboxane-A2 production and decreased eicosanoid biosynthesis. The gastrointestinal disease is believed to result from decreased or absent production of prostaglandins that protect the gut mucosa (summary by Adler et al., 2008 and Faioni et al., 2014).|OMIM|N|
C5567685|The direction of the chest of the body during delivery of enteral nutrition feeding.|SNOMEDCT_US|N|
C5567686|The delivery technique for intravenous and/or intraperitoneal infusion of nutrients.|SNOMEDCT_US|N|
C5567690|The delivery technique for infusion of enteral nutrition formula distal to the oral cavity via a tube inserted into the gastrointestinal tract.|SNOMEDCT_US|N|
C5567741|Peripheral neuropathy with variable spasticity, exercise intolerance, and developmental delay (PNSED) is an autosomal recessive multisystemic disorder with highly variable manifestations, even within the same family. Some patients present in infancy with hypotonia and global developmental delay with poor or absent motor skill acquisition and poor growth, whereas others present as young adults with exercise intolerance and muscle weakness. All patients have signs of a peripheral neuropathy, usually demyelinating, with distal muscle weakness and atrophy and distal sensory impairment; many become wheelchair-bound. Additional features include spasticity, extensor plantar responses, contractures, cerebellar signs, seizures, short stature, and rare involvement of other organ systems, including the heart, pancreas, and kidney. Biochemical analysis may show deficiencies in mitochondrial respiratory complex enzyme activities in patient tissue, although this is not always apparent. Lactate is frequently increased, suggesting mitochondrial dysfunction (Powell et al., 2015; Argente-Escrig et al., 2022).
For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060).|OMIM|N|
C5567742|A rare mitochondrial oxidative phosphorylation disorder with decreased respiratory complex I and IV enzyme activity. Characteristics of this disease hypotonia, global developmental delay, neonatal onset of progressive pectus carinatum without other skeletal abnormalities, poor growth, sensorineural hearing loss, dysmorphic features and brain abnormalities such as cerebral atrophy, quadriventricular dilatation and thin corpus callosum posteriorly.|SNOMEDCT_US|N|
C5567743|Combined oxidative phosphorylation deficiency-23 (COXPD23) is an autosomal recessive disorder characterized by early childhood onset of hypertrophic cardiomyopathy and/or neurologic symptoms, including hypotonia and delayed psychomotor development. Laboratory investigations are consistent with a defect in mitochondrial function resulting in lactic acidosis, impaired activities of respiratory complexes I and IV, and defective translation of mitochondrial proteins. Brain imaging shows abnormal lesions in the basal ganglia, thalamus, and brainstem. The severity of the disorder is variable, ranging from death in early infancy to survival into the second decade (summary by Kopajtich et al., 2014).
For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060).|OMIM|N|
C5567787|A rare genetic neurological disorder with characteristics of postnatal microcephaly, hypotonia during infancy followed in most cases by progressive spasticity mainly affecting the lower limbs and spastic diplegia or paraplegia, intellectual disability, delayed or absent speech and dysarthria. Seizures and mildly dysmorphic features have been described in some patients.|SNOMEDCT_US|N|
C5567788|A rare autosomal recessive primary immunodeficiency characterized by infancy onset of severe inflammatory bowel disease with life-threatening diarrhea and failure to thrive, oral aphthous ulcers, and recurrent severe upper and lower respiratory tract infections with finger clubbing. Laboratory examination reveals increased IgE and decreased IgG levels, as well as reduced numbers of circulating CD19+ B-cells including IgM+ naive and class-switched IgG memory B-cells, with a concomitant increase in transitional B-cells, while T-cell numbers and function are normal.|SNOMEDCT_US|N|
C5567789|A rare defect of tropomyosin characterised by decreased fetal movements and generalised muscle stiffness at birth. Additional features include joint contractures, short stature, kyphosis, dysmorphic features, temperature dysregulation and variably severe respiratory involvement with hypoxaemia. Muscle biopsy shows mild myopathic features.|SNOMEDCT_US|N|
C5567889|A rare sporadic human prion disease characterized by adult onset of progredient neurodegeneration presenting as a combination of psychiatric, sleep, and oculomotor disturbances, with development of progressive cognitive impairment (the predominantly affected cognitive domains being memory, temporal and/or spatial orientation, language, executive functions, and attention), postural instability, and sometimes additional motor abnormalities and autonomic hyperactivity, in the course of the disease. Bilateral thalamic hypometabolism on FDG-PET imaging and positive prion seeding activity in the cerebrospinal fluid are present in many cases. The disease is fatal within typically two to three years.|ORDO|N|
C5567891|A rare autosomal dominant hereditary demyelinating motor and sensory neuropathy with characteristics of progressive distal muscle weakness and atrophy, distal sensory impairment and decreased or absent reflexes in the affected limbs with an onset in the first or second decade of life. Median motor nerve conduction velocities are typically less than 38 m/s. Patients often have foot deformities. Sural nerve biopsy shows decrease in myelinated fibres, myelin abnormalities, and onion bulb formation. Fatty replacement of muscle tissue predominantly affects the anterior and lateral compartment of the lower legs.|SNOMEDCT_US|N|
C5567892|A rare syndromic frontonasal dysplasia with characteristics of distinctive facial dysmorphic features including hypertelorism, almond-shaped palpebral fissures, nasal deformity with creased ridge, depressed or absent tip and asymmetry and partial absence of nasal bones and downturned corners of the mouth. Additional reported manifestations are limb anomalies (e. g. Poland anomaly, transverse limb agenesis and anomalies of the hands and feet such as camptodactyly, oligodactyly, clinodactyly and syndactyly), frontonasal encephalocele, choanal atresia, congenital renal/cardiac malformations, and corpus callosum agenesis.|SNOMEDCT_US|N|
C5567893|Autosomal recessive spastic paraplegia-78 is an adult-onset neurodegenerative disorder characterized predominantly by spasticity and muscle weakness of the lower limbs, resulting in gait difficulties and loss of ambulation in some patients. Affected individuals also have cerebellar signs, such as dysarthria, oculomotor disturbances, and limb and gait ataxia; brain imaging shows cerebellar atrophy. Some patients may have mild cognitive impairment or frank dementia. The phenotype is highly variable (summary by Estrada-Cuzcano et al., 2017).
Biallelic mutation in the ATP13A2 gene also causes Kufor-Rakeb syndrome (KRS; 606693), a neurodegenerative disorder with overlapping features. Patients with KRS have earlier onset and prominent parkinsonism. Loss of ATP13A2 function results in a multidimensional spectrum of neurologic features reflecting various regions of the brain and nervous system, including cortical, pyramidal, extrapyramidal, brainstem, cerebellar, and peripheral (summary by Estrada-Cuzcano et al., 2017).|OMIM|N|
C5567894|A rare hereditary ataxia with characteristics of delayed motor milestones in early infancy, hypotonia, ataxic gait, intention tremor, nystagmus, dysarthric speech and variable learning difficulties. Neuroimaging shows a mixed picture of cerebellar hypoplasia and degeneration, with an almost absent inferior lobule and thinning of the folia of the vermis. In addition, cisterna magna and fourth ventricle are enlarged with relative sparing of the brain stem volume.|SNOMEDCT_US|N|
C5567897|A rare multiple congenital anomalies/dysmorphic syndrome with characteristics of early-onset progressive bone marrow failure with anaemia, leucopenia, mild thrombocytopenia and myelodysplastic features. There are also non-haematologic manifestations such as developmental delay, cataracts, facial dysmorphism, short stature and skeletal anomalies. Immunodeficiency primarily affects B-cells and may lead to increased susceptibility to infections. Additional reported features include dry skin and eczema, cardiac anomalies, hearing loss and reduction of cerebral volume on brain imaging.|SNOMEDCT_US|N|
C5567899|A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of the association of developmental delay, variable intellectual disability, skeletal dysplasia and in many cases T-cell immunodeficiency and other immunologic abnormalities. Skeletal findings include short stature, anomalies of the long bones, hands, feet and pelvis, platyspondyly, cervical malformation and pectus excavatum. Dysmorphic facial features, such as coarse face, hypertelorism and broad nasal tip may be present. Additional reported manifestations are seizures, hyperreflexia, nystagmus and muscular hypotonia, along with multiple liver cysts.|SNOMEDCT_US|N|
C5567901|A rare genetic disease with characteristics of multiple café au lait macules and elevated rates of sister chromatid exchange demonstrated on cytogenetic testing. Pre and postnatal growth deficiency with short stature, microcephaly, mild developmental delay, cardiomyopathy and symptomatic gastro-esophageal reflux have also been described while malar rash is typically absent.|SNOMEDCT_US|N|
C5567903|Orofaciodigital syndrome-18 is characterized by short stature, brachymesophalangy, pre- and postaxial polysyndactyly, and stocky femoral necks, as well as oral anomalies and dysmorphic facial features (Thevenon et al., 2016).|OMIM|N|
C5568106|A rare pervasive developmental disorder with characteristics of microcephaly, profound developmental delay, intellectual disability, bilateral cataracts, severe epilepsy including infantile spasms, hypotonia, irritability, feeding difficulties leading to failure to thrive and stereotypic hand movements. The disease manifests in infancy. Brain imaging reveals delay in myelination and cerebral atrophy.|SNOMEDCT_US|N|
C5568107|A rare genetic multiple congenital anomalies/dysmorphic syndrome with variable intellectual disability and characteristics of abnormal head shape/metopic ridging and facial dysmorphism which may include arched eyebrows, ptosis, downslanting palpebral fissures, epicanthal folds and short upturned nose. Many patients present variable global developmental delay and/or autism spectrum disorder. Additional reported features are cardiac, skeletal or urogenital anomalies. Brain imaging may show agenesis of the corpus callosum.|SNOMEDCT_US|N|
C5568123|IMD50 is an X-linked recessive primary immunodeficiency characterized by the onset of recurrent bacterial or varicella zoster virus (VZV) infections in early childhood. Laboratory studies show profound lymphopenia, hypogammaglobulinemia, poor immune response to vaccine antigens, and fluctuating neutropenia. The disorder does not affect overall patient survival (summary by Lagresle-Peyrou et al., 2016).|OMIM|N|
C5568132|Immunodeficiency-55 is an autosomal recessive primary immunodeficiency characterized by intrauterine growth retardation, natural killer (NK) cell deficiency, and chronic neutropenia. Most patients also have postnatal growth retardation. Other clinical manifestations include mild facial dysmorphism, dry or eczematous skin, and recurrent infections with both viruses and bacteria. The disorder appears to result from a defect in DNA replication causing blockade of immune cell differentiation in the bone marrow, particularly affecting NK cells (summary by Cottineau et al., 2017).|OMIM|N|
C5568133|A rare genetic combined T and B cell immunodeficiency characterised by life-threatening infections due to disrupted transferrin receptor 1 endocytosis, resulting in defective cellular iron transport and impaired T and B cell function. Patients present with early-onset chronic diarrhoea, severe recurrent infections and failure to thrive. Laboratory studies reveal hypo or agammaglobulinaemia, normal lymphocyte counts but decreased numbers of memory B cells, intermittent neutropenia and thrombocytopenia, and mild anaemia (resistant to iron supplementation) with low mean corpuscular volume.|SNOMEDCT_US|N|
C5568136|A rare genetic erythrokeratoderma disorder characterized by generalized cutaneous erythema with fine white scales and pruritus refractory to treatment, progressive dilated cardiomyopathy, palmoplantar keratoderma, sparse or absent eyebrows and eyelashes, sparse scalp hair, nail dystrophy and dental enamel anomalies. Variable features include failure to thrive, developmental delay and development of corneal opacities. Histology shows psoriasiform acanthosis, hypogranulosis, and compact orthohyperkeratosis.|SNOMEDCT_US|N|
C5568137|A rare genetic neuromuscular disease with characteristics of length-dependent axonal motor neuropathy predominantly affecting the lower limbs, in combination with a myopathy with morphological features of myofibrillar myopathy with aggregates and rimmed vacuoles. Age of onset is typically in the second to third decade of life. Patients present with slowly progressive muscle weakness and atrophy initially affecting the distal lower limbs and later progressing to involve proximal limbs and also truncal muscles. There is no involvement of respiratory and cardiac muscles.|SNOMEDCT_US|N|
C5568138|Autosomal recessive limb-girdle muscular dystrophy-25 (LGMDR25) is characterized by slowly progressive onset of proximal lower limb weakness in adulthood. Affected individuals also develop cardiac arrhythmias resulting in syncopal episodes as young adults or later in life (summary by Schindler et al., 2016).
For a discussion of genetic heterogeneity of autosomal recessive limb-girdle muscular dystrophy (LGMD), see LGMDR1 (253600).|OMIM|N|
C5568140|A rare genetic non-syndromic congenital anomaly of the great arteries characterized by the presence of an isolated patent arterial duct (PDA) (i.e. failure of closure of ductus arteriosis after birth) in several members of the same family. Clinical presentation is similar to the sporadic form and may range from neonatal-onset tachypnea, diaphoresis and failure to thrive to adult-onset atrial arrhythmia, signs and symptoms of heart failure and cyanosis limited to the lower extremities.|SNOMEDCT_US|N|
C5568141|A rare lethal primary bone dysplasia with characteristics of fetal akinesia, multiple contractures, shortening of all long bones, short, broad ribs, narrow chest and thorax, pulmonary hypoplasia and a protruding abdomen. Short bowed femurs may also be associated.|SNOMEDCT_US|N|
C5568143|DYRK1A syndrome is characterized by intellectual disability including impaired speech development, autism spectrum disorder including anxious and/or stereotypic behavior problems, and microcephaly. Affected individuals often have a clinically recognizable phenotype including a typical facial gestalt, feeding problems, seizures, hypertonia, gait disturbances, and foot anomalies. The majority of affected individuals function in the moderate-to-severe range of intellectual disability; however, individuals with mild intellectual disability have also been reported. Other medical concerns relate to febrile seizures in infancy; the development of epilepsy with seizures of the atonic, absence, and generalized myoclonic types; short stature; and gastrointestinal problems. Ophthalmologic, urogenital, cardiac, and/or dental anomalies have been reported.|GeneReviews|N|
C5568225|Often consumes food by oneself.|SNOMEDCT_US|N|
C5568227|The willingness to eat a wider selection of foods.|SNOMEDCT_US|N|
C5568229|Attentiveness to food and/or nutrition programs available to meet needs.|SNOMEDCT_US|N|
C5568230|The expressed quality of life feeling related to food and/or nutrition.|SNOMEDCT_US|N|
C5568248|Secondary osteosarcoma is an osteosarcoma that arises secondarily in a precursor disease of the bone such as Paget disease, chronic osteomyelitis, fibrous dysplasia and other benign bone conditions or post-treatment, for example, following chemotherapy or therapeutic radiotherapy.|SNOMEDCT_US|N|
C5568407|Acute bacterial prostatitis.|SNOMEDCT_US|N|
C5568414|Chronic bacterial prostatitis.|SNOMEDCT_US|N|
C5568416|Inflammatory chronic pelvic pain syndrome.|SNOMEDCT_US|N|
C5568418|Noninflammatory chronic pelvic pain syndrome.|SNOMEDCT_US|N|
C5568423|A rare, benign, circumscribed nodule arising from the bronchioles. It is usually seen in middle-aged to elderly patients. It is characterized by the presence a two-layer cellular structure composed of a basal and luminal layer.|NCI|N|
C5568499|A state of being wherein a person has difficulty fully meeting current and/or ongoing financial obligations and/or does not feel secure in their financial future.|SNOMEDCT_US|N|
C5568517|Combined hepatocellular and cholangiocarcinoma is a distinct subtype of liver malignancies whereby the tumour that exhibits both hepatocytic and biliary differentiation.|SNOMEDCT_US|N|
C5568532|A rare genetic immune disease characterised by recurrent sinopulmonary infections and autoimmune enterocolopathy, manifesting as frequent episodes of intractable diarrhoea with abdominal pain and fever, accompanied by eczematous rashes, due to deficits in components of innate and adaptive immunity. Immunologic abnormalities include IgG subclass deficiency, impaired antigen-induced lymphocyte proliferation, reduced cytokine production by CD8+ T lymphocytes and decreased numbers of natural killer cells.|SNOMEDCT_US|N|
C5568533|A rare genetic immune disease characterised by early onset of recurrent bacterial, viral and fungal infections, chronic inflammatory bowel disease, gastritis and inflammatory polyarthritis. Patients present with diarrhoea, vomiting, hepatosplenomegaly, mouth ulcers, perianal abscesses, chronic lung disease with bronchiectasis and failure to thrive. Occurrence of a skin rash associated with lymphocytic vasculitis has also been reported. Immunologic abnormalities include variable T-cell lymphopenia, decreased natural killer cells, and decreased B-cells with variable hypogammaglobulinaemia.|SNOMEDCT_US|N|
C5568535|A rare otorhinolaryngological malformation characterized by a hypoplastic or absent cochlear nerve, resulting in variable hearing loss or total deafness, depending on the quantity of nerve fibers present. The condition can be unilateral or bilateral, occur as an isolated malformation or in the context of a complex syndrome and may be associated with a hypoplastic internal auditory or cochlear nerve canal.|SNOMEDCT_US|N|
C5568557|A rare immune dysregulation disease with immunodeficiency with characteristics of infantile or childhood onset of a variable phenotype including recurrent/persistent bacterial, fungal and viral infections with involvement of the skin, lower respiratory tract, gastrointestinal tract, eczema, allergies and inflammatory bowel disease. Epstein-Barr related smooth muscle neoplasms have also been reported. Immunophenotyping shows decreased Treg counts, as well as a deficient CD3/CD28 co-stimulation response in CD4+ and CD8+ T-cells.|SNOMEDCT_US|N|
C5568558|A rare genetic syndromic intellectual disability disease with characteristics of severe intrauterine and post-natal growth delay, moderate to severe intellectual disability and neonatal-onset hepatopathy with fibrosis, steatosis, and/or cholestasis, occasionally leading to liver failure. Additional variable manifestations include muscular hypotonia, zinc deficiency, recurrent infections, diabetes mellitus, joint contractures, skin and joint laxity, hypervitaminosis D and sensorineural hearing loss.|SNOMEDCT_US|N|
C5568559|Lymphoproliferative syndrome-3 (LPFS3) is an autosomal recessive early-onset immunologic disorder characterized by increased susceptibility to Epstein-Barr virus (EBV) infection in B cells, resulting in abnormal B-cell proliferation and increased susceptibility to B-cell malignancies, including Hodgkin lymphoma. Patients usually have hypogammaglobulinemia without lymphopenia, although some subsets of immune cells may be low and some patients may have recurrent infections. The disorder results from impaired signaling from proliferating B cells to effector T cells that provide immune surveillance. There may be an increased risk of solid tumors in heterozygous carriers (summary by Abolhassani et al., 2017).
For a discussion of genetic heterogeneity of lymphoproliferative syndrome, see XLP1 (308240).|OMIM|N|
C5568562|Primary coenzyme Q10 (CoQ10) deficiency is usually associated with multisystem involvement, including neurologic manifestations such as fatal neonatal encephalopathy with hypotonia; a late-onset slowly progressive multiple-system atrophy-like phenotype (neurodegeneration with autonomic failure and various combinations of parkinsonism and cerebellar ataxia, and pyramidal dysfunction); and dystonia, spasticity, seizures, and intellectual disability. Steroid-resistant nephrotic syndrome (SRNS), the hallmark renal manifestation, is often the initial manifestation either as isolated renal involvement that progresses to end-stage renal disease (ESRD), or associated with encephalopathy (seizures, stroke-like episodes, severe neurologic impairment) resulting in early death. Hypertrophic cardiomyopathy (HCM), retinopathy or optic atrophy, and sensorineural hearing loss can also be seen.|GeneReviews|N|
C5568564|A rare genetic syndrome with a combination of autoinflammation, immunodeficiency and neutrophil dysfunction, as well as mild bleeding diathesis. Patients present with recurrent attacks of abdominal pain, high fever, and systemic inflammation lasting four to five days and occurring every few weeks. Attacks may be accompanied by nailbed, tongue, submandibular and gluteal abscesses, intra-abdominal granulomas, pyoderma gangrenosum and buccal ulcerations. Frequent episodes of purulent paronychia, superficial skin and mucosal infections and purulent upper respiratory tract infections have also been reported.|SNOMEDCT_US|N|
C5568565|A rare genetic disease characterised by infantile onset of severe inflammatory bowel disease manifesting with bloody diarrhoea and failure to thrive and central nervous system disease with global developmental delay and regression, impaired speech, hypotonia, hyperreflexia and epilepsy. Brain imaging shows global cerebral atrophy, thin corpus callosum, delayed myelination and posterior leukoencephalopathy. Cases with recurrent infections and impaired T-cell responses to stimulation as well as decreased T-cell subsets have been reported.|SNOMEDCT_US|N|
C5568567|Disorder with characteristics of significantly lower-than-expected body weight due to voluntary reduction of food intake, intense fear of becoming overweight and a distorted body image in prepubescent children. Secondary manifestations include growth, developmental and pubertal delay, decreased bone density, severe metabolic and endocrine dysfunction, cognitive impairment, depression, deterioration of academic or athletic performance, along with difficulties in familial and peer relations.|SNOMEDCT_US|N|
C5568568|A rare genetic cerebral small vessel disease characterized by subcortical ischemic events associated with cognitive decline and gait disturbance with an age of onset typically in the sixth or seventh decade of life. Imaging reveals white matter hyperintensities, status cribrosum, lacunar infarcts and sometimes microbleeds. Extra-neurological manifestations are absent.|SNOMEDCT_US|N|
C5568569|A rare primary lymphedema characterized by extensive multisegmental lymphedema associated with persistent, widespread infections with various genital high and low-risk human papillomaviruses, resulting in multifocal anogenital dysplasia. Laboratory examination shows abnormalities in lymphocyte subsets, in particular CD4+ T-cells. Epidermal nevi and capillary malformations have also been reported.|SNOMEDCT_US|N|
C5568570|A rare anomaly with characteristics of progressive, asymmetrical, non-neoplastic overgrowth of a mandibular condyle. It is unilateral in most cases and leads to progressive facial asymmetry, mandibular deviation, articular dysfunction and dental malocclusion.|SNOMEDCT_US|N|
C5568571|A rare multiple sclerosis (MS) variant with characteristics of the onset of one or multiple episodes of clinical central nervous system (CNS) symptoms consistent with acquired CNS demyelination, with radiologically proven dissemination of inflammatory lesions in space and time, following exclusion of other disorders before the age of 18 years old. Patients present a predominantly relapsing-remitting course with the first attack usually consisting of optic neuritis, transverse myelitis, acute disseminated encephalomyelitis and monofocal or polyfocal neurological deficits. A high burden of T2-hyperintense lesions on initial MRI, primarily of the supratentorial region and/or of the cervical spinal cord has been reported.|SNOMEDCT_US|N|
C5568572|A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of intrauterine and postnatal growth restriction, global developmental delay, intellectual disability and dysmorphic facial features (such as broad nasal root, anteverted nares, long philtrum, low-set and posteriorly rotated ears and short neck). Additional reported manifestations are microcephaly, short stature, vertebral abnormalities, joint laxity, ocular, cardiac, and renal defects and minor limb anomalies. Brain imaging may show hypoplastic corpus callosum, delayed myelination and cerebral atrophy.|SNOMEDCT_US|N|
C5568576|A rare genetic neurological disorder with characteristics of progressive spastic paraparesis and delayed gross motor development with an onset in infancy or early childhood. Patients also show variable degrees of intellectual disability, speech delay and dysarthria. Other reported features include microcephaly, seizures, bifid uvula with or without cleft palate and ocular anomalies. Brain imaging shows white matter abnormalities in the periventricular and other regions.|SNOMEDCT_US|N|
C5568577|A rare neuroendocrine neoplasm of pancreas characterized by morphologically recognizable neuroendocrine and non-neuroendocrine components, each constituting at least 30% of the tumor volume. Based on histopathology, mixed ductal- and mixed acinar-neuroendocrine carcinomas are distinguished. Patients usually present with unspecific symptoms related to tumor growth and/or metastasis, although occurrence of Zollinger-Ellison syndrome has been reported. Resectability of the tumor is the most important prognostic factor.|SNOMEDCT_US|N|
C5568608|A neuroendocrine neoplasm that involves the duodenum.|MONDO|N|
C5568766|A rare genetic intellectual disability characterized by the association of intellectual disability with variable other anomalies in the absence of a well-characterized syndrome. Associated abnormalities may include facial dysmorphism, neurological signs and symptoms, behavioral problems, and abnormalities of various other organ systems.|SNOMEDCT_US|N|
C5568767|A rare genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability with characteristics of unilateral or bilateral cleft lip and palate and craniofacial dysmorphism (including frontal bossing, hypertelorism, broad flat nasal bridge, cupped ears/thickened helices and micrognathia). Additional manifestations are variable congenital cardiac anomalies, pectus excavatum, abnormalities of the hands and feet, ocular abnormalities (myopia, cataract, staphyloma) and conductive or sensorineural hearing loss.|SNOMEDCT_US|N|
C5568768|A rare disorder with multisystemic involvement and glomerulopathy with characteristics of progressive steroid-resistant nephrotic syndrome typically associated with focal segmental glomerulosclerosis, as well as primary adrenal insufficiency with adrenal calcifications. Age of onset and disease course are variable, with some cases presenting as severe fetal hydrops, while most patients present in infancy or early childhood and progress to end-stage renal disease within a few years. Additional features include ichthyosis, primary hypothyroidism, hypogonadism, immunodeficiency and neurological manifestations (such as cognitive impairment, ataxia, sensorineural hearing loss, or seizures).|SNOMEDCT_US|N|
C5568769|A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, variable degrees of intellectual disability and facial dysmorphism (including high nasal bridge, deep-set eyes, and wide mouth), often associated with feeding difficulties and/or gastroesophageal reflux. Additional reported manifestations are seizures, hypotonia, autistic features and joint laxity. Brain imaging may show non-specific features (such as cerebral atrophy).|SNOMEDCT_US|N|
C5568770|A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of variable developmental delay, intellectual disability, early-onset seizures and facial dysmorphism (including arched eyebrows, long palpebral fissures, prominent nasal bridge, large ears, thin upper lip and high arched palate). Other reported features are microcephaly, hypotonia, growth retardation, congenital heart defects and malformations of the fingers and toes, as well as additional neurologic manifestations (such as ataxia or spastic quadriplegia). Brain imaging may show hypoplastic corpus callosum, white matter abnormalities or cortical atrophy.|SNOMEDCT_US|N|
C5568771|A rare genetic disease characterized by onset of neurological deterioration in the first two years of life, progressing to severe intellectual disability, profound ataxia, mild dyskinesia, axial hypotonia, camptocormia and oculomotor apraxia. Some patients also develop nephropathy with features of tubulointerstitial nephritis, hypertension and a tendency for hyperkalemia.|SNOMEDCT_US|N|
C5568800|A rare genetic disease characterized by early-onset respiratory difficulties and frequent respiratory infections, congenital heart defects, dysostosis multiplex, hepatosplenomegaly, renal involvement, hematopoietic abnormalities, facial dysmorphism (coarse facial features, large forehead, synophrys, long eyelashes, broad nasal bridge, macroglossia, short neck, and low hairline) and global developmental delay. Laboratory examination shows increased urinary excretion of glycosaminoglycans and increased plasma heparan sulfate, but no lysosomal enzyme deficiency. The disease is usually fatal in the first years of life.|SNOMEDCT_US|N|
C5568801|A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterized by mild global developmental delay, intellectual disability or learning difficulties, behavioral problems (like autistic, hyperactive, or aggressive behavior), variable dysmorphic craniofacial features and abnormalities of the fingers (brachydactyly, tapering fingers, prominent interphalangeal joints). Additional manifestations are highly variable and include recurrent infections and skeletal anomalies among others.|SNOMEDCT_US|N|
C5568802|A rare genetic syndrome with limb malformations as a major feature with characteristics of preaxial polydactyly of the hands and feet with variable phenotypic expressivity in combination with hypertrichosis extending from the posterior hairline to the middle of the back. Reported limb malformations include triphalangeal thumbs, duplicated thumbs, preaxial extra ray and syndactyly between digits I and II in the hands, large or duplicated hallux and syndactyly between toes I and II in the feet.|SNOMEDCT_US|N|
C5568804|A rare autosomal dominant autoinflammatory syndrome characterized by early onset systemic inflammation with autoimmune manifestations and more rarely, humoral immune deficiency and increased production of circulating proinflammatory cytokines. Variable manifestations include recurrent oral aphthous ulcers, genital ulcers, arthralgia or arthritis, periodic fever, uveitis and severe gastrointestinal involvement (pain, diarrhea, vomiting, rectal bleeding).|SNOMEDCT_US|N|
C5568805|A rare systemic amyloidosis with characteristics of slowly progressive renal dysfunction, increased serum creatinine, mostly normal urine analysis with no significant proteinuria and associated heart disease. Cardiac involvement presents as hypertrophic obstructive cardiomyopathy, left ventricular outflow tract obstruction, coronary artery disease and conduction system abnormalities. Histology reveals renal tubular atrophy, interstitial fibrosis, glomerular sclerosis and medullar amyloid deposits.|SNOMEDCT_US|N|
C5568806|A rare neurodegenerative disease with characteristics of progressive dementia and ataxia, widespread cerebral amyloid angiopathy and parenchymal amyloid deposition. Two subtypes have been identified, ABri amyloidosis and ADan amyloidosis.|SNOMEDCT_US|N|
C5568836|Isolated anhidrosis with normal sweat glands (ANHD) is characterized by absence of perspiration and subsequent heat intolerance with normal morphology and number of sweat glands. Teeth, hair, nails, and skin are normal (Klar et al., 2014).|OMIM|N|
C5568837|Spastic paraplegia-74 (SPG74) is an autosomal recessive neurologic disorder characterized by onset of slowly progressive lower limb spasticity, optic atrophy, and peripheral neuropathy in the first decade (summary by Lossos et al., 2015).
For a discussion of genetic heterogeneity of autosomal recessive spastic paraplegia, see SPG5A (270800).|OMIM|N|
C5568838|A rare genetic gastroenterological disease characterized by the presence of multiple persistent, intractable ulcers of the small intestine, leading to chronic blood and protein loss. Signs and symptoms include abdominal pain, anemia, fatigue, edema, and diarrhea. Morphologically, the condition manifests with multiple sharply demarcated shallow lesions with irregular circular or linear shape.|SNOMEDCT_US|N|
C5568848|A rare genetic neurological disorder with characteristics of hypotonia, delayed motor development, dyskinesia of the limbs, intellectual disability with impaired speech development, seizures, autistic features, stereotypic movements, and sleep disturbance. Onset of symptoms is in infancy. Bilateral abnormalities in the putamen on brain MRI have been reported in some patients.|SNOMEDCT_US|N|
C5568849|A rare genetic non-dystrophic congenital myopathy disorder characterised by neonatal-onset of severe generalised hypotonia associated with mild psychomotor delay, congenital strabismus with abducens nerve palsy and atrial and/or ventricular septal defects. Cryptorchidism is commonly reported in male patients and muscle biopsy typically reveals increased variability in muscle fibre size.|SNOMEDCT_US|N|
C5568850|A rare genetic central nervous system malformation characterised by dysplasia of the superior cerebellum (especially the vermis), brainstem asymmetry, dysplasia of the basal ganglia and cortical irregularities with asymmetric abnormalities in gyral size and orientation, as well as varying sulcal depth, but without lissencephaly, pachygyria, or polymicrogyria. Clinically, patients present global developmental delay with motor development usually being more affected that speech. Variable features are abnormal eye movements including oculomotor apraxia, strabismus, seizures and behavioural problems.|SNOMEDCT_US|N|
C5568863|A progressive muscular dystrophy with characteristics of co-existence of limb-girdle weakness and diffuse joint contractures without cardiomyopathy. Patients present lower limb weakness progressing to involve also upper limbs and axial muscles and eventually leading to permanent loss of ambulation, widespread joint contractures in the limbs and sometimes the spine and variable respiratory involvement. Morphological changes in muscle biopsies include rimmed vacuoles, increased internal nuclei, cytoplasmic bodies and a dystrophic pattern.|SNOMEDCT_US|N|
C5568864|A rare isolated constitutional thrombocytopenia characterised by reduced platelet count and defective platelet ATP secretion, resulting in increased bleeding tendency. Clinical manifestations are easy bruising, gum bleeding, menorrhagia, spontaneous epistaxis, spontaneous muscle haematoma and potential postpartum haemorrhage among others.|SNOMEDCT_US|N|
C5568865|The saddle region is the area of the body that is in contact with a saddle when sitting on a horse. This region includes the groin, buttocks, genitals, and upper inner thighs.|SNOMEDCT_US|N|
C5568868|A rare genetic multiple congenital anomalies syndrome with characteristics of short stature, hand brachydactyly with hypoplastic distal phalanges, global development delay, intellectual disability and more variably; seizures, obesity, and craniofacial dysmorphism that includes microcephaly, high forehead, flat face, hypertelorism, deep set eyes, flat nasal bridge, averted nostrils, long philtrum, thin lip vermilion and short neck. The malformation is due to a loss of function in the enzyme protein arginine N-methyltransferase 7 (encoded by PRMT7, 16q22.1) resulting in decreased levels of protein arginine methylation. Transmission is autosomal recessive.|SNOMEDCT_US|N|
C5568869|A rare genetic complex spastic paraplegia disorder with characteristics of infantile-onset of psychomotor developmental delay with severe intellectual disability and poor speech acquisition, associated with seizures (mostly myoclonic), muscular hypotonia which may be noted at birth and slowly progressive spasticity in the lower limbs leading to severe gait disturbances. Ocular abnormalities and incontinence are commonly associated. Other symptoms may include verbal dyspraxia, hypogenitalism, macrocephaly and sensorineural hearing loss, as well as dystonic movements and ataxia with upper limb involvement.|SNOMEDCT_US|N|
C5568877|GNB5-related neurodevelopmental disorder (GNB5-NDD) is characterized by a spectrum of neurodevelopmental phenotypes that range from severe-to-profound intellectual disability (ID; 31/41 reported individuals), to mild-to-moderate ID (5/41), to normal intellect with severe language disorder (5/41, one extended family). A unique and specific feature of GNB5-NDD – regardless of neurodevelopmental phenotype – is nearly universal bradycardia caused by sinoatrial node dysfunction (sick sinus syndrome). Most individuals with severe and profound ID have a developmental and epileptic encephalopathy with focal seizures or epileptic spasms, as well as visual impairment (central or retinal) with nystagmus, difficulty feeding, and gastroesophageal reflux disease. The risk of early mortality is increased.|GeneReviews|N|
C5568878|A rare genetic leucodystrophy identified in families of Ashkenazi Jewish descent, characterised by infancy onset of severe global developmental delay with very limited or absent speech and sometimes complete absence of motor development, hypotonia, spasticity and acquired microcephaly. Seizures, hearing loss, visual impairment and autonomic dysfunction have also been described. Brain imaging shows delayed myelination and other white matter abnormalities.|SNOMEDCT_US|N|
C5568882|A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of global developmental delay and intellectual disability, progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals and dysmorphic craniofacial features (including microcephaly, hypertelorism, epicanthal folds, mild ptosis, strabismus, malar hypoplasia, short nose, depressed nasal bridge, full lips, small, low-set ears and short neck). Craniosynostosis, generalized hypotonia, as well as asymmetry of the cerebral hemispheres and mild thinning of the corpus callosum on brain imaging have also been described.|SNOMEDCT_US|N|
C5568977|A rare benign ovarian stromal tumour characterised by a stromal neoplasm with variable microcystic morphology, low mitotic activity and diffuse nuclear beta-catenin and cyclin D1 immunoreactivity, while inhibin and calretinin are not expressed. Patients most commonly present with symptoms of a unilateral pelvic mass. Hormonal manifestations are usually absent. The tumour may be associated with familial adenomatous polyposis.|SNOMEDCT_US|N|
C5568978|Autosomal dominant spastic paraplegia-9A is a neurologic disorder characterized by onset of slowly progressive spasticity mainly affecting the lower limbs. The age at onset usually ranges from adolescence to adulthood, and patients have gait difficulties, motor neuropathy, and dysarthria. Additional variable features include cerebellar signs, cataract, pes cavus, and urinary urgency (summary by Coutelier et al., 2015).
For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant spastic paraplegia, see SPG3A (182600).|OMIM|N|
C5568979|A rare predominantly pure hereditary spastic paraplegia with characteristics of juvenile or adult onset of slowly progressive spastic paraparesis, gait disturbances and increased tendon reflexes. Additional variable manifestations include pes cavus, dysarthria, sensory impairment and urinary symptoms. Cognition is normal.|SNOMEDCT_US|N|
C5568980|Autosomal recessive SPG9B is a neurologic disorder characterized by early-onset complex spastic paraplegia. Affected individuals had delayed psychomotor development, intellectual disability, and severe motor impairment. More variable features include dysmorphic facial features, tremor, and urinary incontinence (summary by Coutelier et al., 2015).
For a discussion of genetic heterogeneity of autosomal recessive SPG, see SPG5A (270800).|OMIM|N|
C5568981|A pure form of hereditary spastic paraplegia with characteristics of adult onset of crural spastic paraparesis, hyperreflexia, extensor plantar responses, proximal muscle weakness, mild muscle atrophy, decreased vibration sensation at ankles and mild urinary dysfunction. Foot deformities have been reported to eventually occur in some patients. No abnormalities are noted on brain magnetic resonance imaging and peripheral nerve conduction velocity studies.|SNOMEDCT_US|N|
C5569007|The spectrum of FARS2 deficiency ranges from the infantile-onset phenotype, characterized by epileptic encephalopathy with lactic acidosis and poor prognosis (70% of affected individuals), to the later-onset phenotype, characterized by spastic paraplegia, less severe neurologic manifestations, and longer survival (30% of affected individuals). To date FARS2 deficiency has been reported in 37 individuals from 25 families. Infantile-onset phenotype. Seizures are difficult to control and may progress quickly at an early age to intractable seizures with frequent status epilepticus; some children have hypsarrhythmia on EEG. All have developmental delay; most are nonverbal and unable to walk. Feeding difficulties are common. More than half of affected children die in early childhood. Later-onset phenotype. All affected individuals have spastic paraplegia manifested by weakness, spasticity, and exaggerated reflexes of the lower extremities associated with walking difficulties; some have developmental delay/intellectual disability; some have brief seizures that resolve over time.|GeneReviews|N|
C5569008|A rare systemic autoimmune disease with characteristics of infiltrates of IgG4 (immunoglobulin G4) positive plasma cells and lymphocytes in the adventitia of the aorta, resulting in thickening of perivascular tissue or formation of soft tissue masses surrounding the aorta and its major branches (potentially complicated by inflammatory aortic aneurysm), associated with elevated serum IgG4 levels. Preferential location is the infra-renal portion of the abdominal aorta. In addition, medium-sized blood vessels can be involved, and the condition may occur together with IgG4-related disease in other parts of the body. Clinical symptoms are unspecific and include chest or back pain and fever.|SNOMEDCT_US|N|
C5569009|A rare inflammatory eye disease with characteristics of IgG4 (immunoglobulin G4) immunopositive lymphocyte and plasmacyte infiltration and collagenous fibrosis of affected tissue and elevated serum levels of IgG4. Clinical presentation includes mass lesion or swelling of the involved structures, commonly involving lacrimal gland and duct, infraorbital and supraorbital nerves, extraocular muscles and orbital soft tissues. A systemic involvement is common.|SNOMEDCT_US|N|
C5569013|A group of rare mitochondrial oxidative phosphorylation disorders due to mitochondrial DNA anomalies characterized by progressive, most commonly proximal, myopathy with variable degrees of weakness, exercise-induced muscle pain, and fatigue. Progressive external ophthalmoplegia is often observed. Additional features include neurological signs and symptoms (such as seizures, stroke-like episodes, or developmental delay), cardiomyopathy, involvement of liver, kidneys, and gastrointestinal tract, and diabetes. Lactic acidosis is frequently present, while recurrent rhabdomyolysis and myoglobinuria are rare. Muscle biopsy may reveal the presence of ragged-red fibers and a mosaic pattern of cytochrome c oxidase-negative fibers.|ORDO|N|
C5569024|Charcot-Marie-Tooth disease type 2X (CMT2X) is an autosomal recessive, slowly progressive, axonal peripheral sensorimotor neuropathy characterized by lower limb muscle weakness and atrophy associated with distal sensory impairment and gait difficulties. Some patients also have involvement of the upper limbs. Onset usually occurs in the first 2 decades of life, although later onset can also occur (summary by Montecchiani et al., 2016)
For a phenotypic description and a discussion of genetic heterogeneity of axonal CMT, see CMT2A1 (118210).|OMIM|N|
C5569025|Charcot-Marie-Tooth disease type 2Z (CMT2Z) is an autosomal dominant axonal peripheral neuropathy characterized by onset, usually in the first decade, of distal lower limb muscle weakness and sensory impairment. The disorder is progressive, and affected individuals tend to develop upper limb and proximal muscle involvement in an asymmetric pattern, resulting in severe disability late in adulthood. Rare occurrence of global developmental delay with impaired intellectual development or learning difficulties has been observed. In some instances, the same mutation may result in different phenotypic manifestations (CMT2Z or DIGFAN), which highlights the clinical spectrum associated with MORC2 mutations and may render the classification of patients into one or the other disorder challenging (summary by Sevilla et al., 2016, Ando et al., 2017, Guillen Sacoto et al., 2020).
For a phenotypic description and a discussion of genetic heterogeneity of axonal CMT, see CMT2A1 (118210).|OMIM|N|
C5569026|Charcot-Marie-Tooth disease type 2Y is an autosomal dominant peripheral neuropathy characterized by distal muscle weakness and atrophy associated with length-dependent sensory loss. Most patients have involvement of both the lower and upper limbs. The age at onset and the severity of the disorder are highly variable (summary by Gonzalez et al., 2014).
For a phenotypic description and a discussion of genetic heterogeneity of axonal CMT, see CMT2A1 (118210).|OMIM|N|
C5569027|A rare hereditary motor and sensory neuropathy with characteristics of childhood onset of unsteady gait, pes cavus, frequent falls and foot dorsiflexor weakness slowly progressing to distal upper and lower limb muscle weakness and atrophy, distal sensory impairment and reduced tendon reflexes. Additional symptoms may include bilateral sensorineural hearing impairment and neuropathic pain.|SNOMEDCT_US|N|
C5569028|A rare axonal hereditary motor and sensory neuropathy with characteristics of adult onset of slowly progressive distal muscle weakness and atrophy, decreased deep tendon reflexes of lower limbs and mild distal sensory loss leading to gait difficulties in most patients.|SNOMEDCT_US|N|
C5569048|A rare isolated hereditary giant platelet disorder characterized by severe thrombocytopenia and thrombopathy due to defects in proplatelet formation and platelet activation in homozygous patients. Clinical manifestations are recurrent bleeding episodes including epistaxis, spontaneous hematoma and menorrhagia.|SNOMEDCT_US|N|
C5569050|A rare axonal hereditary motor and sensory neuropathy characterized by adult onset of recurrent pain in legs with or without cramps, progressive loss of deep tendon reflexes and vibration sense, paresthesia in the feet and later in the hands. Patients often experience sleep disturbances and mild sensory ataxia.|SNOMEDCT_US|N|
C5569051|A rare autosomal recessive axonal hereditary motor and sensory neuropathy with characteristics of motor-predominant axonal polyneuropathy due to a defect in copper metabolism. Patients become symptomatic in infancy or childhood with subtle motor delay or regression, manifesting with progressive weakness, muscle wasting and absent reflexes in the lower and upper extremities. In addition, vibratory sensation is mildly diminished. Involvement of the face with weakness and fasciculation of facial muscles has also been described.|SNOMEDCT_US|N|
C5569053|A rare autosomal recessive axonal hereditary motor and sensory neuropathy with characteristics of adolescent or adult onset of slowly progressive muscle weakness and atrophy of the distal lower limbs progressing to involve also the upper limbs and proximal muscles and sensory impairment. Patients present gait disturbances and loss of reflexes, at later stages loss of ambulation, dysarthria, dysphagia, facial weakness and impairment of respiratory muscles requiring assisted ventilation.|SNOMEDCT_US|N|
C5569081|Combined oxidative phosphorylation deficiency-28 (COXPD28) is a complex autosomal recessive multisystem disorder associated with mitochondrial dysfunction. The phenotype is variable, but includes episodic metabolic decompensation beginning in infancy that can result in mild muscle weakness, cardiorespiratory insufficiency, developmental delay, or even death. Biochemical studies of patient tissues show variable mitochondrial defects, including decreased activities of respiratory chain enzymes (summary by Kishita et al., 2015).
For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060).|OMIM|N|
C5569083|A rare genetic syndromic intellectual disability with characteristics of motor and cognitive developmental delay with language impairment, macrocephaly, hypotonia, dysmorphic facial features (including long face, slanting palpebral fissures and prominent, flattened nose) and left ventricular noncompaction cardiomyopathy. Patients also present skeletal abnormalities (e.g. scoliosis, finger clinodactyly, pes planus), slender build and shy behaviour. Strabismus and various neurological signs (including ataxia, tremor and hyperreflexia) may be associated, as well as epilepsy, autism and MRI findings showing a small cerebellum and abnormalities of the corpus callosum. A phenotypic variant with no cardiac involvement has been reported.|SNOMEDCT_US|N|
C5569084|Autosomal recessive spinocerebellar ataxia-21 (SCAR21) is a neurologic disorder characterized by onset of cerebellar ataxia associated with cerebellar atrophy in early childhood. Affected individuals also have recurrent episodes of liver failure in the first decade, resulting in chronic liver fibrosis, as well as later onset of a peripheral neuropathy. Mild learning disabilities may also occur (summary by Schmidt et al., 2015).
The phenotype is highly variable: all patients appear to have episodic and severe liver dysfunction in early childhood that tends to resolve with age. Affected individuals also show mild developmental or language delay and/or later onset of variable neurologic features, such as motor dysfunction (summary by Lenz et al., 2018).|OMIM|N|
C5574375|A person whose gender identity corresponds with the sex the person had or was identified as having at birth.|SNOMEDCT_US|N|
C5574377|A condition in which one is unable to regularly move from place to place in a safe and timely manner because one lacks the resources necessary for transportation.|SNOMEDCT_US|N|
C5574392|Subject has no intention to, is unwilling, or has actively refused the opportunity to breast-feed. Concept should not be used to represent a subject that is unable to breast-feed due to a medical or any other type of condition.|SNOMEDCT_US|N|
C5574650|Manifest deviation of the visual axes not controlled by fusion.|HPO|N|
C5574653|Pili bifurcati is an uncommon transitory hair shaft dysplasia with characteristic of segmental duplication of the hair shaft. Patients generally present with diffuse alopecia. Hypopigmentation can be observed. This anomaly of the hair shaft occurs in normal hair, pili canaliculi, or monilethrix and has been associated with the mosaic trisomy 8 syndrome, pseudomonilethrix type II or protein deficiency states. It can also be secondary to ulcerative colitis and extensive bowel resection. Caused by a transient duplication of the papilla''s tip during the anagen phase, leading to the transitory production a two complete shafts, in the same follicular matrix, that emerge through a single pilary canal. When the two papilla tips fuse, both parallel branches form a single shaft again. When the transient duplication of the papilla tip occurs repetitively during the anagen phase, a series of bifurcation-fusion can be observed along the shaft. This situation is called pili multi-bifurcati. As a duplicated papilla tip can split again, a doubly bifurcated shaft may be observed: pili bi-bifurcati.|SNOMEDCT_US|N|
C5574660|The phenotypes of dihydrolipoamide dehydrogenase (DLD) deficiency are an overlapping continuum that ranges from early-onset neurologic manifestations to adult-onset liver involvement and, rarely, a myopathic presentation. Early-onset DLD deficiency typically manifests in infancy as hypotonia with lactic acidosis. Affected infants frequently do not survive their initial metabolic decompensation, or die within the first few years of life during a recurrent metabolic decompensation. Children who live beyond the first two to three years frequently exhibit growth deficiencies and residual neurologic deficits (intellectual disability, spasticity, ataxia, and seizures). In contrast, isolated liver involvement can present as early as the neonatal period and as late as the third decade. Evidence of liver injury/failure is preceded by nausea and emesis and frequently associated with encephalopathy and/or coagulopathy. Acute metabolic episodes are frequently associated with lactate elevations, hyperammonemia, and hepatomegaly. With resolution of the acute episodes affected individuals frequently return to baseline with no residual neurologic deficit or intellectual disability. Liver failure can result in death, even in those with late-onset disease. Individuals with the myopathic presentation may experience muscle cramps, weakness, and an elevated creatine kinase.|GeneReviews|N|
C5574662|An increased concentration of ammonia in the blood.|HPO|N|
C5574665|Developmental and epileptic encephalopathy-3 (DEE3) is an autosomal recessive neurologic disorder characterized by onset of refractory seizures in the first weeks to months of life. The prognosis is poor, and affected children either may die within 1 to 2 years after birth or survive in a persistent vegetative state. The EEG pattern often shows a suppression-burst pattern with high-voltage bursts of slow waves mixed with multifocal spikes alternating with isoelectric suppression phases; these features are reminiscent of a clinical diagnosis of Ohtahara syndrome. Some patients may have hypsarrhythmia on EEG, consistent with a clinical diagnosis of West syndrome (summary by Molinari et al., 2005, Molinari et al., 2009).
For a discussion of genetic heterogeneity of DEE, see 308350.|OMIM|N|
C5574666|Nystagmus made apparent by looking to the right or to the left.|HPO|N|
C5574667|Congenital dyserythropoietic anemia type I (CDA I) is characterized by moderate-to-severe macrocytic anemia presenting occasionally in utero as severe anemia associated with hydrops fetalis but more commonly in neonates as hepatomegaly, early jaundice, and intrauterine growth restriction. Some individuals present in childhood or adulthood. After the neonatal period, most affected individuals have lifelong moderate anemia, usually accompanied by jaundice and splenomegaly. Secondary hemochromatosis develops with age as a result of increased iron absorption even in those who are not transfused. Distal limb anomalies occur in 4%-14% of affected individuals.|GeneReviews|N|
C5574668|Diminished ability to maintain the tissues of the oral cavity|CCC|N|
C5574675|Hereditary sensory and autonomic neuropathy type II (HSAN2) is characterized by progressively reduced sensation to pain, temperature, and touch. Onset can be at birth and is often before puberty. The sensory deficit is predominantly distal with the lower limbs more severely affected than the upper limbs. Over time sensory function becomes severely reduced. Unnoticed injuries and neuropathic skin promote ulcerations and infections that result in spontaneous amputation of digits or the need for surgical amputation. Osteomyelitis is common. Painless fractures can complicate the disease. Autonomic disturbances are variable and can include hyperhidrosis, tonic pupils, and urinary incontinence in those with more advanced disease.|GeneReviews|N|
C5574677|Hyaline fibromatosis syndrome (HFS) is characterized by hyaline deposits in the papillary dermis and other tissues. It can present at birth or in infancy with severe pain with movement, progressive joint contractures, and often with severe motor disability, thickened skin, and hyperpigmented macules/patches over bony prominences of the joints. Gingival hypertrophy, skin nodules, pearly papules of the face and neck, and perianal masses are common. Complications of protein-losing enteropathy and failure to thrive can be life threatening. Cognitive development is normal. Many children with the severe form (previously called infantile systemic hyalinosis) have a significant risk of morbidity or mortality in early childhood; some with a milder phenotype (previously called juvenile hyaline fibromatosis) survive into adulthood.|GeneReviews|N|
C5574678|Hyaline fibromatosis syndrome (HFS) is characterized by hyaline deposits in the papillary dermis and other tissues. It can present at birth or in infancy with severe pain with movement, progressive joint contractures, and often with severe motor disability, thickened skin, and hyperpigmented macules/patches over bony prominences of the joints. Gingival hypertrophy, skin nodules, pearly papules of the face and neck, and perianal masses are common. Complications of protein-losing enteropathy and failure to thrive can be life threatening. Cognitive development is normal. Many children with the severe form (previously called infantile systemic hyalinosis) have a significant risk of morbidity or mortality in early childhood; some with a milder phenotype (previously called juvenile hyaline fibromatosis) survive into adulthood.|GeneReviews|N|
C5574705|Congenital anomalies of the kidneys and urinary tract (CAKUT) encompasses a spectrum of developmental disorders of the urinary tract that can range from mild vesicoureteral reflux to severe renal agenesis. Other phenotypes include renal duplication, small kidneys, ureteropelvic junction obstruction, hydronephrosis, and renal dysplasia. These abnormalities can result in kidney damage, and possibly renal failure (summary by Vivante et al., 2015).
For a discussion of genetic heterogeneity of CAKUT, see 610805.|OMIM|N|
C5574706|A bending or abnormal curvature affecting a long bone of the leg.|HPO|N|
C5574708|Adenomyosis is characterized by the presence of endometrial glands and stroma within the myometrium. Abnormal uterine bleeding and dysmenorrhea are the most characteristic symptoms, occurring in approximately 65% of cases (Arnold et al., 1995).|OMIM|N|
C5574711|An instance of agammaglobulinemia that is present from birth.|MONDO|N|
C5574736|Bronchiolitis obliterans following lung or allogeneic hematopoietic cell transplantation.|NCI|N|
C5574737|A multifocal, unisystem form of Langerhans-cell histiocytosis. There is involvement of multiple sites in one organ system, most frequently the bone. Patients are usually young children presenting with multiple destructive bone lesions.|NCI|N|
C5574742|Abnormally low body weight.|HPO|N|
C5574816|Cutaneous lesion that develops as a dry, scaly, red patch that evolves to an indurated and hyperpigmented plaque with adherent scale. Scarring may result in central white patches (loss of pigmentation) and skin atrophy.|HPO|N|
C5574857|The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Yo.|HPO|N|
C5574860|Limited cutaneous systemic sclerosis (lcSSc) is a subtype of systemic sclerosis (SSc; see this term) characterized by the association of Raynaud''s phenomenon with skin fibrosis limited to the hands, face, feet and forearms.|ORPHANET|N|
C5574863|Hypoglycemic agents that specifically target PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR GAMMA. They increase tissue sensitivity to the insulin action and are used to treat TYPE 2 DIABETES MELLITUS.|MSH|N|
C5574870|Capillary malformation-arteriovenous malformation (CM-AVM) syndrome is characterized by the presence of multiple small (1-2 cm in diameter) capillary malformations mostly localized on the face and limbs. Some affected individuals also have associated arteriovenous malformations (AVMs) and/or arteriovenous fistulas (AFVs), fast-flow vascular anomalies that typically arise in the skin, muscle, bone, spine, and brain; life-threatening complications of these lesions can include bleeding, congestive heart failure, and/or neurologic consequences. Symptoms from intracranial AVMs/AVFs appear to occur early in life. Several individuals have Parkes Weber syndrome (multiple micro-AVFs associated with a cutaneous capillary stain and excessive soft-tissue and skeletal growth of an affected limb).|GeneReviews|N|
C5574872|An infectious disease of the Astrakhan region, Chad, Kosovo, caused by infection with rickettsia conorii subsp. caspia.|MONDO|N|
C5574905|Cytosolic phosphoenolpyruvate carboxykinase deficiency causes a defect in gluconeogenesis that results in a 'biochemical signature' of fasting hypoglycemia with high tricarboxylic acid cycle intermediate excretion, particularly of fumarate. Other biochemical anomalies that may be seen during metabolic crisis include ketonuria, dicarboxylic aciduria, and urea cycle dysfunction (Vieira et al., 2017).
See PCKDM (261650) for a discussion of mitochondrial PCK (PEPCK2; 614095) deficiency.|OMIM|N|
C5574918|Preeclampsia, which along with chronic hypertension and gestational hypertension comprise the hypertensive disorders of pregnancy, is characterized by new hypertension (blood pressure 140/90 or greater) presenting after 20 weeks' gestation with clinically relevant proteinuria. Preeclampsia is 1 of the top 4 causes of maternal mortality and morbidity worldwide (summary by Payne et al., 2011).
Preeclampsia is otherwise known as gestational proteinuric hypertension (Davey and MacGillivray, 1988). A high proportion of patients with preeclampsia have glomerular endotheliosis, the unique histopathologic feature of the condition (Fisher et al., 1981). A distinct form of severe preeclampsia is characterized by hemolysis, elevated liver enzymes, and low platelets (HELLP syndrome) (Brown et al., 2000).
Genetic Heterogeneity of Preeclampsia/Eclampsia
Susceptibility loci for preeclampsia/eclampsia include PEE1 on chromosome 2p13, PEE2 (609402) on chromosome 2p25, and PEE3 (609403) on chromosome 9p13. PEE4 (609404) is caused by mutation in the STOX1 gene (609397) on chromosome 10q22. PEE5 (614595) is caused by mutation in the CORIN gene (605236) on chromosome 4p12. An association with PEE has been found with the EPHX1 gene (132810) on chromosome 1q.|OMIM|N|
C5574922|Catecholaminergic polymorphic ventricular tachycardia (CPVT) is characterized by episodic syncope occurring during exercise or acute emotion. The underlying cause of these episodes is the onset of fast ventricular tachycardia (bidirectional or polymorphic). Spontaneous recovery may occur when these arrhythmias self-terminate. In other instances, ventricular tachycardia may degenerate into ventricular fibrillation and cause sudden death if cardiopulmonary resuscitation is not readily available. The mean onset of symptoms (usually a syncopal episode) is between age seven and 12 years; onset as late as the fourth decade of life has been reported. If untreated, CPVT is highly lethal, as approximately 30% of affected individuals experience at least one cardiac arrest and up to 80% have one or more syncopal spells. Sudden death may be the first manifestation of the disease.|GeneReviews|N|
C5574939|Timothy syndrome is a multi-system disorder with characteristics of cardiac, hand, facial and neurodevelopmental features that include QT prolongation, webbed fingers and toes, flattened nasal bridge, low-set ears, small upper jaw, thin upper lip, and characteristic features of autism or autistic spectrum disorders. Timothy syndrome is caused by mutations in the CACNA1C gene. It is inherited as autosomal dominant trait.|SNOMEDCT_US|N|
C5574940|Combined D-2- and L-2-hydroxyglutaric aciduria (D-2-HG and L-2-HG) is an autosomal recessive neurometabolic disorder characterized by neonatal-onset encephalopathy with severe muscular weakness, intractable seizures, respiratory distress, and lack of psychomotor development resulting in early death. Brain imaging shows abnormalities including enlarged ventricles, delayed myelination, and germinal layer cysts (summary by Muntau et al., 2000).
See also isolated L-2-hydroxyglutaric aciduria (236792) and isolated D-2-hydroxyglutaric aciduria (see 600721).|OMIM|N|
C5574944|High urine magnesium in the presence of hypomagnesemia.|HPO|N|
C5574945|Generalized epilepsy-paroxysmal dyskinesia syndrome is characterised by the association of paroxysmal dyskinesia and generalised epilepsy (usually absence or generalised tonic-clonic seizures) in the same individual or family. The prevalence is unknown. Analysis in one of the reported families led to the identification of a causative mutation in the <i>KCNMA1</i> gene (chromosome 10q22), encoding the alpha subunit of the BK channel. Transmission is autosomal dominant.|ORDO|N|
C5574948|A congenital disorder of glycosylation that involves malfunctioning trimming/processing of the protein-bound oligosaccharide chain.|MONDO|N|
C5574949|Cone-shaped epiphyses of the phalanges of the hands or feet. Cone-shaped epiphyses (also known as coned epiphyses) are epiphyses that invaginate into cupped metaphyses. That is, the epiphysis has a cone-shaped distal extension resulting from increased growth of the central portion of the epiphysis relative to its periphery.|HPO|N|
C5574950|Netherton syndrome (NETH) is a rare and severe autosomal recessive skin disorder characterized by congenital erythroderma, a specific hair-shaft abnormality, and atopic manifestations with high IgE levels. Generalized scaly erythroderma is apparent at or soon after birth and usually persists. Scalp hair is sparse and brittle with a characteristic 'bamboo' shape under light microscopic examination due to invagination of the distal part of the hair shaft to its proximal part. Atopic manifestations include eczema-like rashes, atopic dermatitis, pruritus, hay fever, angioedema, urticaria, high levels of IgE in the serum, and hypereosinophilia. Life-threatening complications are frequent during the neonatal period, including hypernatremic dehydration, hypothermia, extreme weight loss, bronchopneumonia, and sepsis. During childhood, failure to thrive is common as a result of malnutrition, metabolic disorders, chronic erythroderma, persistent cutaneous infections, or enteropathy (summary by Bitoun et al., 2002).|OMIM|N|
C5574953|Isolated congenital onychodysplasia, here referred to as nonsyndromic congenital nail disorder-7 (NDNC7), is characterized by longitudinal streaks, thinning, and impaired formation of the nail plates leading to increased vulnerability of the free nail margins. The most characteristic finding is a conspicuous reddish dome-shaped prominence of the proximal nail plate from which the longitudinal ridges originate, but this is present in only about half of patients. In most cases, all fingernails and toenails are involved, with some accentuation of the changes in the thumb nails and great toe nails (summary by Hamm et al., 2000 and Krebsova et al., 2000).
For a list of other nonsyndromic congenital nail disorders and a discussion of genetic heterogeneity, see NDNC1 (161050).|OMIM|N|
C5574955|A confluent, generalized overgrowth of silvery blonde to gray lanugo hair at birth.|HPO|N|
C5574956|The presence of two or more accessory spleens.|HPO|N|
C5574957|Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH; 152760) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by Raivio et al., 2007). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia (HH).'
For a general phenotypic description and a discussion of genetic heterogeneity of hypogonadotropic hypogonadism with or without anosmia, see 147950.|OMIM|N|
C5574958|This syndrome is an isolated upper limb mesomelic dysplasia. It has been described in four patients from two unrelated families (a man and his daughter, and a Lebanese man and his son). Patients present with ulnar hypoplasia with severe radial bowing, but normal stature. The mode of transmission is likely to be autosomal dominant with variable expressivity.|ORDO|N|
C5574964|A very rare variant of acrofacial dysostosis with characteristics of mandibulofacial dysostosis and limb anomalies. It has been described in less than ten patients. The mandibulofacial dysostosis consists of retrognathism, complete or occult posterior cleft palate and anomalies of the external ears. Limb anomalies consist of split-foot deformity with syndactyly of some toes. The condition is transmitted as an autosomal dominant trait with variable penetrance and expressivity.|SNOMEDCT_US|N|
C5574965|A distinct syndromic type of frontonasal malformation with characteristics of hypertelorism, wide nasal bridge, broad columella, widened philtrum, widely separated narrow nares, poor development of nasal tip, midline notch of the upper alveolus, columella base swellings and a low hairline. Additional features reported in some include upper eyelid ptosis and midline dermoid cysts of craniofacial structures and philtral pits or rugose folding behind the ears.|SNOMEDCT_US|N|
C5574973|A rare malignant sex cord stromal tumour of ovary occurring typically in young women and characterised by manifestations of androgen excess (hirsutism, hair loss, amenorrhoea, or oligomenorrhoea) when functional.|SNOMEDCT_US|N|
C5574976|A rare small cell neuroendocrine carcinoma that arises from the prostate gland.|NCI|N|
C5574994|Synpolydactyly (SPD), or syndactyly type II, is defined as a connection between the middle and ring fingers and fourth and fifth toes, variably associated with postaxial polydactyly in the same digits. Minor local anomalies and various metacarpal or metatarsal abnormalities may be present (summary by Merlob and Grunebaum, 1986).
In some families with SPD, the foot anomalies are characterized by preaxial as well as postaxial polydactyly, and appear to be fully penetrant. The more severe features of classic SPD, involving 3/4 synpolydactyly in the hands and 4/5 synpolydactyly in the feet, also occur, but at reduced penetrance. This foot phenotype is not seen in patients with classic SPD due to HOXD13 polyalanine tract expansions (Goodman et al., 1998).
Malik (2012) reviewed the syndactylies, noting that the extreme phenotypic heterogeneity observed in SPD families consists of approximately 18 clinical variants that can be 'lumped' into 3 categories: typical SPD features, minor variants, and unusual phenotypes.
Genetic Heterogeneity of Synpolydactyly
See also SPD2 (608180), caused by mutation in the fibulin-1 gene (FBLN1; 135820) on chromosome 22q13, and SPD3 (610234), which has been mapped to chromosome 14q11.2-q12.|OMIM|N|
C5574996|The Sid (Sd(a)) antigen is present on red blood cells of most individuals, but shows considerable variability in the strength of expression. About 96% of Caucasian individuals are Sd(a+), with the antigen strength forming a continuous curve ranging from ordinary (Sd(a+)) to strong (Sd(a++)); the strongest antigen expression is also known as 'Cad.' Most people also have weak anti-Sd(a) antibodies in their serum, which is usually of no clinical importance, but can be a problem if they are transfused with cells showing strong Sd(a++), or Cad, expression; this could result in red cell agglutination and a transfusion reaction (summary by Bird and Wingham, 1976).
Polyagglutination refers to red blood cells that agglutinate upon exposure to almost all human sera, but not to autologous serum or the sera of newborns. The condition becomes apparent during blood typing and cross-matching in the laboratory (summary by Beck, 2000).|OMIM|N|
C5575016|The presence of autoantibodies (immunoglobulins) in the serum that react against tyrosine phosphatase IA-2.|HPO|N|
C5575025|ZAP70-related combined immunodeficiency (ZAP70-related CID) is a cell-mediated immunodeficiency caused by abnormal T-cell receptor (TCR) signaling. Affected children usually present in the first year of life with recurrent bacterial, viral, and opportunistic infections, diarrhea, and failure to thrive. Severe lower-respiratory infections and oral candidiasis are common. Affected children usually do not survive past their second year without hematopoietic stem cell transplantation (HSCT).|GeneReviews|N|
C5575027|Decreased activity of 11-beta-hydroxysteroid dehydrogenase type 2, which catalyzes the conversion of cortisol to cortisone due to autosomal recessive deactivating mutation(s) in the HSD11B2 gene. Resultant elevated cortisol concentrations in the kidney activate the mineralocorticoid receptor, resulting in hypertension, hypokalemia, and hypernatremia.|NCI|N|
C5575035|A subjective response of good agreement or ability.|NCI|N|
C5575038|A type of airway casts that consist of plasma components and inflammatory cells.|HPO|N|
C5575057|A rare genetic glycogen storage disease characterized by either lactate dehydrogenase (LDH) M- or H-subunit deficiency. Main features of LDH M-subunit deficiency are exertional fatigue and muscle pain potentially accompanied by myoglobinuria. Some patients may develop pustular psoriasis-like skin lesions. Complications of pregnancy, such as frequent abdominal pains and increased uterine tone with a risk of dystocia have also been described. LDH H-subunit deficiency manifests with low serum LDH activity of unclear clinical relevance.|ORDO|N|
C5575066|Schaaf-Yang syndrome (SYS) is a rare neurodevelopmental disorder that shares multiple clinical features with the genetically related Prader-Willi syndrome. It usually manifests at birth with muscular hypotonia in all and distal joint contractures in a majority of affected individuals. Gastrointestinal/feeding problems are particularly pronounced in infancy and childhood, but can transition to hyperphagia and obesity in adulthood. Respiratory distress is present in many individuals at birth, with approximately half requiring intubation and mechanical ventilation, and approximately 20% requiring tracheostomy. Skeletal manifestations such as joint contractures, scoliosis, and decreased bone mineral density are frequently observed. All affected individuals show developmental delay, resulting in intellectual disability of variable degree, from low-normal intelligence to severe intellectual disability. Other findings may include short stature, seizures, eye anomalies, and hypogonadism.|GeneReviews|N|
C5575119|A rare neurologic disease with characteristics of multifaceted motor system dysfunctions and cognitive defects such as asymmetric rigidity, bradykinesia, limb apraxia and visuospatial dysfunction. The disease shows a wide clinical variability between patients with many developing a relatively pure motor syndrome, and others displaying a combination of motor and cognitive deficits.|SNOMEDCT_US|N|
C5575229|A rare neurologic disease with characteristics of the chronic consequences of bilirubin toxicity in the globus pallidus, sub-thalamic nuclei and other brain regions, after exposure to high levels of unconjugated bilirubin in the neonatal period. Symptoms begin after the acute phase of bilirubin encephalopathy in the first year of life, evolve slowly over several years, and include mild to severe extrapyramidal disturbances (especially dystonia and athetosis), auditory neuropathy spectrum disorder and oculomotor and dental abnormalities.|SNOMEDCT_US|N|
C5575231|Benign familial infantile epilepsy (BFIE) is a genetic epileptic syndrome characterized by the occurrence of afebrile repeated seizures in healthy infants, between the third and eighth month of life.|ORDO|N|
C5575272|Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures (DEDISB) is a neurodevelopmental disorder characterized by variably impaired skill acquisition apparent from infancy or early childhood. Affected individuals have predominant language delay with mild fine and gross motor deficits, although they usually are ambulatory by around 3 years of age. Most patients have mild to moderately impaired intellectual development and behavioral abnormalities, including aggression, hyperactivity, and autism spectrum disorder. About half of individuals develop various types of seizures that may be refractory in some. More variable features include dysmorphic facial features, mild ocular anomalies, and nonspecific findings on brain imaging (Thomas et al., 2021).|OMIM|N|
C5575286|A complex substitution where the nucleotides in the coding sequence of the EGFR gene from position 2232 through 2249 have been deleted and replaced with adenine-adenine-adenine.|NCI|N|
C5575293|A change in the nucleotide sequence of the SLC19A1 gene.|NCI|N|
C5575305|A molecular abnormality indicating rearrangement of the TPM3 gene.|NCI|N|
C5575322|A rare lymphatic system anomaly with characteristics of multifocal congenital and progressive vascular lesions of the skin, gastrointestinal tract and occasionally other anatomic sites, causing potentially life-threatening thrombocytopenic coagulopathy. Macroscopically the lesions appear as round to oval red-brown plaques and as large as a few centimeters in diameter. Histopathologically they consist of dilated thin-walled vessels with variable endothelial hyperplasia, positive for lymphatic endothelial cell markers and resembling benign lymphangioendothelioma.|SNOMEDCT_US|N|
C5575335|Craniotubular dysplasia, Ikegawa type (CTDI) is characterized by childhood-onset short stature in association with macrocephaly, dolichocephaly, or prominent forehead. Radiography shows hyperostosis of the calvaria and skull base, with metadiaphyseal undermodeling of the long tubular bones and mild shortening and diaphyseal broadening of the short tubular bones. Affected individuals experience progressive vision loss in the first decade of life due to optic nerve compression, and deafness may develop in the second decade of life (Guo et al., 2021).|OMIM|N|
C5575342|A central nervous system tumor with morphological features of astrocytoma in which there is insufficient information on the IDH genes status.|NCI|N|
C5575345|Inadvertent transection of a prostatic tumor during prostatectomy, resulting in a positive surgical margin.|NCI|N|
C5575348|A rare IDH-and H3-wildtype diffuse astrocytoma characterized by the presence of a monomorphic population of neoplastic cells that exhibit alteration in the MYB gene. This alteration is associated with fusion between MYB gene and a partner gene, usually PCDHGA1, MMP16, and MAML2 genes.|NCI|N|
C5575349|A rare IDH-and H3-wildtype diffuse astrocytoma characterized by the presence of a monomorphic population of neoplastic cells that exhibit alteration in the MYBL1 gene. This alteration is associated with fusion between MYBL1 gene and a partner gene, usually PCDHGA1, MMP16, and MAML2 genes.|NCI|N|
C5575350|A central nervous system embryonal tumor characterized by the presence of multilayered rosette formation and typically the presence of amplification of the C19MC region on chromosome 19 (19q13.42) or rarely a DICER1 mutation.|NCI|N|
C5575351|Infiltration of organs and soft tissues by malignant (clonal) plasma cells in patients with history of plasma cell myeloma. Skin, liver, lymph nodes, pleura, and central nervous system are the most frequently affected sites.|NCI|N|
C5575357|A molecular abnormality indicating rearrangement of an ETS family gene.|NCI|N|
C5575358|A molecular abnormality indicating rearrangement of the ETS1 gene.|NCI|N|
C5575373|A rare malformation with characteristics of a soft, fluctuant mass, abscess or draining tract along the anterior border of the lower half of sternocleidomastoid muscle, occasionally leading to development of retropharyngeal abscess, acute suppurative thyroiditis, stridor, respiratory distress, odynophagia and dysphagia. Anomaly occurs as a tract from the piriform sinus to the thyroid gland. A third branchial cleft fistula passes superficial to both the superior and recurrent laryngeal nerves, which is the main difference in comparison to the fourth branchial cleft fistula.|SNOMEDCT_US|N|
C5575375|A heterogeneous group of rare neurological disorders involving both the central and peripheral nervous system (and in some cases other systems and organs), and characterized by degeneration or abnormal development of the cerebellum and spinal cord and, in most cases, early onset occurring before the age of 20 years.|ORDO|N|
C5575459|An aggressive extranodal B-cell non-Hodgkin lymphoma that affects the lung. It is characterized by the presence of large neoplastic lymphocytes exclusively in the lumina of small vessels, particularly capillaries.|NCI|N|
C5575478|A molecular abnormality indicating rearrangement of the PSIP1 gene.|NCI|N|
C5575495|X-linked familial Behcet-like autoinflammatory syndrome-2 (AIFBL2) is an X-linked recessive disorder characterized by the onset of inflammatory symptoms in the first decade of life in male patients. Affected males often present with oral mucosal ulceration and skin inflammation. More variable features may include gastrointestinal ulceration, arthritis, recurrent fevers, and iron deficiency anemia. Laboratory studies are consistent with immune dysregulation manifest as increased inflammatory markers and variable immune cell abnormalities, such as decreased NK cells and low memory B cells. One patient presented with recurrent infections and immunodeficiency in addition to autoinflammation. The disorder results from a defect in ELF4, which normally acts as a negative regulator of inflammatory disease. Symptoms may respond to blockade of IL1 (see 147760) or TNFA (191160) (summary by Tyler et al., 2021 and Sun et al., 2022).
For a discussion of genetic heterogeneity of AIFBL, see AIFBL1 (616744).|OMIM|N|
C5575503|A rare inborn error of metabolism characterized by the presence of large amounts of trimethylamine in urine, sweat, and breath, resulting in a fishy body odor in affected individuals. While there are no additional signs and symptoms, the condition can have profound psychosocial consequences.|SNOMEDCT_US|N|
C5575558|Severe Canavan disease (CD) is a rapidly progressing neurodegenerative disorder characterized by leukodystrophy with macrocephaly, severe developmental delay and hypotonia.|ORDO|N|
C5575592|A nucleotide substitution on chromosome 2 at genomic position 60490908 located within intron 2 of the BCL11A gene where thymine is present instead of guanine.|NCI|N|
C5575593|A nucleotide substitution on chromosome 2 at genomic position 60486100 located within intron 2 of the BCL11A gene where adenine has been mutated to guanine.|NCI|N|
C5575612|A unilateral or bilateral congenital cyst of the nasolacrimal duct, which is almost always associated with dacryocystocele, presenting most commonly at birth or a few weeks of age (but rarely presenting in adulthood) as a benign, grayish blue mass in the inferomedial canthus or in the nasal cavity, that can cause epiphora, dacryocystitis (inflammation of the lacrimal sac) and nasal obstruction. It is more commonly reported in females.|SNOMEDCT_US|N|
C5575665|An intended site or administration of a dose form that is initially outside of the body and is subsequently returned to the body.|SNOMEDCT_US|N|
C5575689|Bone infiltration by malignant plasma cells in patients with history of plasma cell myeloma. Bone involvement occurs in approximately eighty percent of newly diagnosed symptomatic plasma cell myeloma patients. The axial skeleton, particularly the spine, and the proximal long bones are the most commonly affected bone sites. It results in osteolytic bone lesions, widespread osteopenia, and compression fractures.|NCI|N|
C5575697|A rare malformation with a soft, fluctuant mass, abscess or draining tract along the anterior border of the lower half of sternocleidomastoid muscle, occasionally leading to development of retropharyngeal abscess, acute suppurative thyroiditis, stridor, respiratory distress, odynophagia and dysphagia. Anomaly occurs as a tract from the piriform sinus to the thyroid gland. A fourth branchial cleft fistula passes deep to the superior laryngeal nerve but superficial to the recurrent laryngeal nerve, which is the main difference in comparison to the third branchial cleft fistula.|SNOMEDCT_US|N|
C5575700|A non-syndromic form of craniosynostosis with characteristics of the premature fusion of the metopic suture. The premature closure of the metopic suture results in deformation of the anterior portion of the calvarium and a triangular-shaped forehead. The underlying genetic cause of isolated trigonocephaly remains to be delineated. Most cases are sporadic but familial forms with apparently autosomal dominant transmission have been reported.|SNOMEDCT_US|N|
C5575702|A rare genetic syndromic neurodevelopmental disorder with characteristics of moderate to mostly severe intellectual disability, speech impairment with normal or mildly delayed motor development and early-onset seizures often accompanied by developmental regression. Autistic behavior and stereotypic movements are common. The disorder is caused by bi-allelic intragenic deletions (rarely duplications) or truncating variants in the CNTNAP2 gene (7q35-q36.1). It encodes contactin-associated protein 2 (CASPR2), a transmembrane protein from the neurexin superfamily, which is involved in neural-glia interactions and clustering of potassium channels in myelinated axons. Inheritance is autosomal recessive.|SNOMEDCT_US|N|
C5575717|A condition in which the fingers or toes are abnormally enlarged.|NCI|N|
C5575718|A change in the termination codon at position 143 in the hemoglobin subunit alpha protein where the termination codon has been replaced by a C-terminal extension comprised of glutamine followed by 29 additional amino acids and ending at a new stop codon at position 31.|NCI|N|
C5575746|A rare multiple congenital anomalies syndrome with cardiac involvement as a major feature with characteristics of QT prolongation, congenital heart defects, syndactyly, facial dysmorphism and neurodevelopmental features. The atypical form (ATS) causes multi-system health concerns but not necessarily with prolonged QT. The disease can be recognised by any CACNA1C change (excluding the G406R change) that causes multi-system health concerns.|SNOMEDCT_US|N|
C5575763|A molecular abnormality indicating rearrangement of the CHN1 gene.|NCI|N|
C5575767|Any gain, loss, or exchange of DNA that results in monoallelic loss of function mutations in the BRIP1 gene.|NCI|N|
C5575768|Any gain, loss, or exchange of DNA that results in monoallelic loss of function mutations in the BARD1 gene.|NCI|N|
C5575823|A nucleotide substitution at position 5439 of the coding sequence of the DICER1 gene where guanine has been mutated to thymine.|NCI|N|
C5575827|A change in the nucleotide sequence of the PRKCA gene.|NCI|N|
C5575829|A subtype of pemphigus vulgaris in which lesions are predominantly found on mucosal membranes with relative sparing of cutaneous tissues.|NCI|N|
C5575830|A molecular abnormality indicating rearrangement of the SEPTIN9 gene.|NCI|N|
C5575846|A group of skin diseases characterized by the development of papules, nodules and/or plaques with mucin deposits and a variable degree of fibrosis in the absence of thyroid disease. The group comprises five sub-forms: nodular lichen myxedematosus, discrete papular lichen myxedematosus, papular mucinosis of infancy, acral persistent papular mucinosis and self-healing papular mucinosis.|ORDO|N|
C5575847|A rare coronary artery congenital malformation characterized by congenital, partial or total occlusion of the left or right coronary artery orifice, associated with hypoplasia of the proximal segment of the corresponding coronary artery. It may present with failure to thrive, dyspnea, syncope, angina pectoris, ventricular tachycardia, myocardial ischemia and/or sudden death.|ORDO|N|
C5575851|A response indicating that an individual does not enjoy sexual activity.|NCI|N|
C5575855|A molecular abnormality indicating rearrangement of the MSI2 gene.|NCI|N|
C5575936|A molecular abnormality referring to the loss of both copies of the CDKN2A gene.|NCI|N|
C5575937|A molecular abnormality referring to the loss of both copies of the CDKN2B gene.|NCI|N|
C5575942|A molecular abnormality indicating rearrangement of the TFRC gene.|NCI|N|
C5575943|A molecular abnormality indicating rearrangement of the TERC gene.|NCI|N|
C5575944|A rare otorhinolaryngological malformation with the presence of a cyst, sinus or fistula occurring along the anterior border of the sternocleidomastoid muscle. Second branchial cleft fistula and sinuses present with skin opening with chronic discharge and recurrent infections, whereas second branchial cleft cysts present as a painless, nontender, stable in size or slowly enlarging lateral neck masses. Cysts occasionally acutely increase in size during upper respiratory tract infection, leading to respiratory compromise, torticollis and dysphagia.|SNOMEDCT_US|N|
C5576443|A lymphatic system malformation with characteristics of swelling of an extremity that can be associated with other lymphatic effusions, due to an underlying developmental anomaly of the lymphatic system (abnormal lymphangiogenesis). It can be hereditary or not and be congenital or late onset.|SNOMEDCT_US|N|
C5576557|A rare biliary tract disease with characteristics of stone formation within the intrahepatic bile ducts without any known cause, leading to bile stasis and repeated cholangitic episodes. The condition is rare in the Western world but frequent in eastern Asia. Patients usually present before the age of forty with right upper quadrant pain, jaundice, and/or fever. Stones are typically calcium bilirubinate (pigment) stones and bacteria are present in the bile in almost all cases. Complications are biliary strictures, liver abscess, liver fibrosis and secondary biliary cirrhosis. Association with cholangiocarcinoma has also been reported.|SNOMEDCT_US|N|
C5577795|The spread of a malignant neoplasm to the urinary tract from an adjacent or distant anatomic site.|NCI|N|
C5578050|A rare otorhinolaryngologic disease with characteristics of an indolent submucosal mass of variable size and extent, most commonly arising in the anterior nasal cavity, involving the nasal septum and lateral nasal wall and potentially extending into the adjacent sinuses. Occurrence in the larynx and lower respiratory tract or the orbit is rare. Histological examination shows concentric angiocentric stromal fibrosis (onionskin fibrosis) and prominent eosinophils. Increased numbers of IgG4-positive plasma cells in the lesion may also be observed, in addition to elevated serum IgG4. Patients typically present with long-standing obstructive symptoms.|SNOMEDCT_US|N|
C5666801|An aggressive, WHO grade 4 diffuse glioma usually affecting children, adolescents, or young adults. It is characterized by receptor tyrosine kinase type 2 (RTK2) alterations.|NCI|N|
C5666802|An aggressive, WHO grade 4 diffuse glioma usually affecting children, adolescents, or young adults. It is characterized by receptor tyrosine kinase type 1 (RTK1) alterations.|NCI|N|
C5666803|An aggressive, WHO grade 4 diffuse glioma usually affecting children, adolescents, or young adults. It is characterized by the expression of MYCN molecular signature.|NCI|N|
C5666804|An interim diagnosis made during the evaluation of persistent peripheral eosinophilia in asymptomatic patients that demonstrate no clinical signs of end-organ dysfunction.|NCI|N|
C5666816|A genetic condition, caused by mutation(s) in the DDX24 gene, encoding ATP-dependent RNA helicase DDX24. It is associated with vascular stenosis of portal and hepatic veins and/or lymphatic vessels.|NCI|N|
C5666821|Interstitial lung fibrosis resulting from chronic hypersensitivity pneumonitis.|NCI|N|
C5666829|A provisional tumor entity described in the supratentorial brain and characterized by a distinct DNA methylation profile and monosomy of chromosome 14. It is composed of small to medium-sized cells showing perinuclear oligodendroglioma-like haloes, scattered multinucleated cells, and nuclear clusters composed of large pleomorphic nuclei. Most cases have been reported in pediatric patients.|NCI|N|
C5667135|Lymphoid proliferations or lymphomas that arise in patients treated with immunosuppressive drugs for autoimmune diseases or conditions other than in the post-transplant setting. (WHO 2017)|NCI|N|
C5667137|A term that refers to the staging of cervical cancer according to the International Federation of Gynecology and Obstetrics (FIGO) staging, 2009.|NCI|N|
C5667138|The reemergence of astrocytoma, IDH-mutant, Grade 4, after a period of remission.|NCI|N|
C5667142|A primary meningeal melanocytic neoplasm that occurs in adults.|NCI|N|
C5667155|A lesion with overlapping histopathological features that make precise diagnosis and classification difficult, or lacks further histopathological and/or molecular characterization.|NCI|N|
C5667168|A lymphoproliferative disorder that occurs in a patient with immunodeficiency.|NCI|N|
C5667177|The reemergence of HIV-associated lymphoproliferative disorder after a period of remission.|NCI|N|
C5667178|HIV-associated lymphoproliferative disorder that is resistant to treatment.|NCI|N|
C5667179|A lymphoproliferative disorder that develops in an individual with HIV infection.|NCI|N|
C5667186|The Karnofsky Performance Status Score was not evaluated.|NCI|N|
C5667187|An EBV-related lymphoid proliferation that arises in the setting of immune deficiency due to a primary immunodeficiency or immunoregulatory disorder.|NCI|N|
C5667188|The reemergence of Epstein-Barr virus-associated lymphoproliferative disease with primary immunodeficiency after a period of remission.|NCI|N|
C5667201|Age of subject (in days) at the start of the course of treatment.|NCI|N|
C5667202|Age of subject (in days) at the end of the treatment course.|NCI|N|
C5667218|Histologic transformation of an indolent B-cell non-Hodgkin lymphoma to an aggressive diffuse large B-cell lymphoma.|NCI|N|
C5667233|A finding of a creatinine concentration of less than 2 mg/dl.|NCI|N|
C5667234|A finding of a creatinine concentration of greater than or equal to 2 mg/dl.|NCI|N|
C5667236|The reemergence of glioblastoma, IDH-wildtype after a period of remission.|NCI|N|
C5667237|The reemergence of metastatic melanoma after a period of remission.|NCI|N|
C5667239|Metastatic melanoma that is resistant to treatment.|NCI|N|
C5667240|Pleomorphic liposarcoma that has spread from its original site of growth to another anatomic site.|NCI|N|
C5667241|Pleomorphic liposarcoma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5667242|Pleomorphic liposarcoma that is not amenable to surgical resection.|NCI|N|
C5667243|The reemergence of schwannoma after a period of remission.|NCI|N|
C5667244|The reemergence of a nervous system neoplasm after a period of remission.|NCI|N|
C5667247|An endpoint in the treatment of acute myeloid leukemia, defined as a finding of less than 5 percent bone marrow blasts, absolute neutrophil count greater than 500 cells per microliter, and platelet count greater than 50,000 cells per microliter.|NCI|N|
C5667248|Immunoblastic lymphoma that is resistant to treatment.|NCI|N|
C5667249|The reemergence of immunoblastic lymphoma after a period of remission.|NCI|N|
C5667282|Hepatocellular carcinoma occurring in a Macaca mulatta (rhesus monkey).|NCI|N|
C5667306|Appendix adenocarcinoma that has spread from its original site of growth to another anatomic site.|NCI|N|
C5667307|Appendix adenocarcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5667309|The reemergence of HER2-positive breast carcinoma after a period of remission.|NCI|N|
C5667311|HER2-positive breast carcinoma that is resistant to treatment.|NCI|N|
C5667322|Conjunctival melanoma that has spread from its original site of growth to another anatomic site.|NCI|N|
C5667324|A blood concentration of prostate specific antigen greater than 0 and less than 0.2 ng/mL.|NCI|N|
C5667328|A diffuse glioma that arises from the midline structures of the central nervous system. The majority of these tumors are found in the brainstem.|NCI|N|
C5667342|A change in the nucleotide sequence of the ACVR1 gene.|NCI|N|
C5667343|A response that atypical features were observed, the diagnosis is in question and an additional review is requested.|NCI|N|
C5667372|A response that the features observed are unusual and likely DIPG.|NCI|N|
C5667381|An indication that the origin of the tumor is in the thalamus.|NCI|N|
C5667383|Areas of focal dark T2 signal (hypointense to cerebellar gray matter), not representing infiltrated normal internal brainstem structures. These areas may typically exhibit relative diffusions restriction and/or enhancement.|NCI|N|
C5667384|A radiographic finding that the tumor extent surrounds the basilar artery greater than 180 degrees.|NCI|N|
C5667391|Small (<3mm) foci of hemorrhage within the tumor.|NCI|N|
C5667392|An indication the distant disease type is spinal/leptomeningeal.|NCI|N|
C5667393|An indication that the origin of the tumor is in the spinal cord.|NCI|N|
C5667404|A response that there are some atypical features, but that the result is likely DIPG.|NCI|N|
C5667407|A new primary neoplasm that occurs in a person who was previously diagnosed with another primary neoplasm.|NCI|N|
C5667418|A psychological or behavioral condition that existed previously and is genetic in nature.|NCI|N|
C5667419|A condition that existed previously and is genetic in nature.|NCI|N|
C5667425|A condition defined by relatively uncontrollable episodes of laughing.|NCI|N|
C5667427|An indication that the origin of the tumor is in the paraventricular region.|NCI|N|
C5667430|A cranial nerve palsy other than the choices present.|NCI|N|
C5667434|The area of interest extends outside the brainstem.|NCI|N|
C5667439|Areas of well-defined, non-enhancing, fluid like signal present in tumor. Most exhibit peripheral, rim like enhancement. Internal marked hypoperfusion present (if performed).|NCI|N|
C5667452|The area of interest is confined to the brainstem.|NCI|N|
C5667467|A response that the resection was incomplete, between 10-90 percent.|NCI|N|
C5667487|Areas of low intensity on types of imaging scans; they appear darker in color and are often seen with various disease processes.|NCI|N|
C5667488|A determination that the area is hyperperfused.|NCI|N|
C5667489|Areas of high intensity on types of imaging scans; they appear lighter in color and are often seen with various disease processes.|NCI|N|
C5667490|Imaging shows a very uniform signal throughout the image.|NCI|N|
C5667492|A radiographic finding of areas of interest greater than the minimal.|NCI|N|
C5667493|A radiographic finding indicating the area of interest is greater than 50 percent.|NCI|N|
C5667500|A response that the features observed are typical for diffuse midline glioma.|NCI|N|
C5667507|Tumor causes a focal deviation of normal brainstem; CSF boundary (cistern or ventricle) or surrounds basilar artery greater than 180 degrees.|NCI|N|
C5667510|The center of the tumor lies off-midline.|NCI|N|
C5667516|A radiologic finding seen as high-signal intensity on diffusion weighted imaging with corresponding reduced apparent diffusion coefficient (ADC) values. ADC is a measurement of the diffusion of water molecules in a given tissue.|NCI|N|
C5667517|An indication that the origin of the tumor is diffuse and hemispheric in nature.|NCI|N|
C5667553|Not circumscribed, limited within a certain area.|NCI|N|
C5667563|An indication that the origin of the tumor is in the brain stem.|NCI|N|
C5667564|Less than 10% of the tumor was removed for the biopsy.|NCI|N|
C5667565|An indication that the baseline spine imaging is available.|NCI|N|
C5667575|Sensations of the face and limbs that are not considered normal.|NCI|N|
C5667576|Gait and coordination movements that are not considered normal.|NCI|N|
C5667577|A radiographic finding indicating the area of interest is greater than 2/3 affected.|NCI|N|
C5667579|A radiographic finding indicating the area of interest is 1/3 to 2/3 affected.|NCI|N|
C5667581|A radiographic finding indicating the area of interest is 1/3 or less affected.|NCI|N|
C5667584|A diffuse glioma that arises from the midline structures of the central nervous system, other than the pons.|NCI|N|
C5667588|A mechanism by which tumor cells evade the host immune system or targeted therapy through loss, downregulation, or modification of target antigens.|NCI|N|
C5667669|A morphologic finding indicating the presence of a cellular infiltrate without a papillary growth in a tissue sample.|NCI|N|
C5667670|A morphologic finding indicating the presence of xanthomatous cells in a tissue sample.|NCI|N|
C5668086|A morphologic finding indicating the presence of a two-layer cellular structure in a tissue sample.|NCI|N|
C5668148|An invasive adenocarcinoma that arises from the lung. It is characterized by the absence of tall columnar cells and mucin production. This category includes lepidic adenocarcinoma, acinar adenocarcinoma, papillary adenocarcinoma, micropapillary adenocarcinoma, and solid adenocarcinoma.|NCI|N|
C5668149|Sharp tumor/normal parenchymal boundaries on all margins.|NCI|N|
C5668153|An extremely rare, low-grade carcinoma that arises endobronchially in the central airways. It is associated with the presence of EWSR1-ATF1 fusion gene and EWSR1-ATF1 fusion protein expression. It is composed of small to medium-sized malignant epithelial cells with clear and eosinophilic cytoplasm forming nests, cords, and trabeculae in a myxohyaline and fibrous stroma.|NCI|N|
C5668156|A status indicating that an individual has received all the required vaccinations.|NCI|N|
C5668157|A status indicating that an individual has received some of the required vaccinations.|NCI|N|
C5668158|A status indicating that an individual has not received any of the required vaccinations.|NCI|N|
C5668159|Malignant ovarian Brenner tumor that is resistant to treatment.|NCI|N|
C5668160|The reemergence of small cell neuroendocrine carcinoma after a period of remission.|NCI|N|
C5668161|The reemergence of extrapulmonary small cell neuroendocrine carcinoma after a period of remission.|NCI|N|
C5668165|A non-invasive mesothelial neoplasm that arises from the pleura. It is characterized by the proliferation of a single-layer of flat or cuboidal neoplastic mesothelial cells. Cytological atypia is absent or minimal. Mitoses are absent. BAP1 gene inactivation and/or CDKN2A gene homozygous deletion are present. Patients present with non-resolving pleural effusion. It may progress to invasive epithelioid mesothelioma.|NCI|N|
C5668166|Primary effusion lymphoma that affects the pleural cavity. The majority of patients are HIV-positive men.|NCI|N|
C5668167|Primary effusion lymphoma that affects the pericardial cavity. The majority of patients are HIV-positive men.|NCI|N|
C5668168|Primary effusion lymphoma that affects the peritoneal cavity. The majority of patients are HIV-positive men.|NCI|N|
C5668171|The reemergence of diffuse large B-cell lymphoma associated with chronic inflammation after a period of remission.|NCI|N|
C5668172|A rare fibrin-associated diffuse large B-cell lymphoma that affects the heart.|NCI|N|
C5668173|Diffuse large B-cell lymphoma associated with chronic inflammation that is resistant to treatment.|NCI|N|
C5668174|A benign soft tissue mass that involves the endocardium, myocardium, or epicardium. It is characterized by the presence of an admixture of mature mesenchymal tissues normally found within the heart.|NCI|N|
C5668177|Malignant leptomeningeal neoplasm that is resistant to treatment.|NCI|N|
C5668185|A malignant neoplasm that arises from the organs and structures of the pelvis.|NCI|N|
C5668241|Ovarian mucinous adenocarcinoma that has spread from its original site of growth to another anatomic site.|NCI|N|
C5668242|Ovarian mucinous adenocarcinoma that is not amenable to surgical resection.|NCI|N|
C5668244|The total score received in a Lawton-Brody Instrumental Activities of Daily Living test.|NCI|N|
C5668247|Sarcomatoid renal cell carcinoma that is not amenable to surgical resection.|NCI|N|
C5668248|A change in the nucleotide sequence of the BRAF gene that is associated with increased risk of disease.|NCI|N|
C5668249|A change in the nucleotide sequence of the ERBB2 gene that is associated with increased risk of disease.|NCI|N|
C5668273|A rare, benign, well-circumscribed lesion arising from the pleura. It is characterized by the presence of fibroblasts, lymphoplasmacytic infiltrates, collagenous stroma formation, and dystrophic calcifications. Patients may present with chest pain, dyspnea, cough, or may be asymptomatic.|NCI|N|
C5668290|A response indicating that an individual is or was not interested in having sexual activity.|NCI|N|
C5668291|A response indicating that an individual had dryness or pain in or around their vagina.|NCI|N|
C5668292|A response indicating that an individual had difficulties with orgasm or climax.|NCI|N|
C5668293|A response indicating that a partner''s absence prevented an individual from having sexual activity.|NCI|N|
C5668294|A response indicating that a partner''s lack of interest prevented an individual from having sexual activity.|NCI|N|
C5668295|A response indicating that a partner''s health condition prevented an individual from having sexual activity.|NCI|N|
C5668296|A malignant neoplasm that arises from the abdomen and has spread from its original site of growth to another anatomic site.|NCI|N|
C5668297|A malignant neoplasm that arises from the abdomen and has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5668298|A change in the nucleotide sequence of a gene involved in DNA base excision repair.|NCI|N|
C5668299|A change in the nucleotide sequence of a gene involved in meiotic recombination.|NCI|N|
C5668300|A primary thymic adenocarcinoma characterized by morphological and immunohistochemical features seen in colorectal adenocarcinoma.|NCI|N|
C5668301|A primary thymic adenocarcinoma that does not conform to either low-grade papillary adenocarcinoma or enteric-type adenocarcinoma.|NCI|N|
C5668302|A primary thymic carcinoma that cannot be defined as one of the thymic carcinomas with specific morphologic characteristics.|NCI|N|
C5668303|An indication that a uniform margin was obtained around the entire excised lesion.|NCI|N|
C5668329|A mutation in the POLD1 gene that either inhibits the expression or results in the translation of an inactive DNA polymerase delta catalytic subunit protein.|NCI|N|
C5668330|A mutation in the PARP1 gene that either inhibits the expression or results in the translation of an inactive Poly [ADP-ribose] polymerase 1 protein.|NCI|N|
C5668347|A cytogenetic abnormality that refers to a translocation involving the CCND2 gene.|NCI|N|
C5668348|A cytogenetic abnormality that refers to a translocation involving the CCND3 gene.|NCI|N|
C5668349|An ICD encounter due to problems related to education and literacy, excluding disorders of psychological development (F80-F89).|NCI|N|
C5668350|An ICD encounter due to illiteracy and low-level literacy.|NCI|N|
C5668351|An ICD encounter due to schooling unavailable and unattainable.|NCI|N|
C5668352|An ICD encounter due to educational maladjustment and discord with teachers and classmates.|NCI|N|
C5668353|An ICD encounter due to other problems related to education and literacy, including inadequate teaching.|NCI|N|
C5668354|An ICD encounter due to problem related to education and literacy, unspecified.|NCI|N|
C5668355|An ICD encounter due to unemployment, unspecified.|NCI|N|
C5668356|An ICD encounter due to uncongenial work, including difficult conditions at work.|NCI|N|
C5668357|An ICD encounter due to other physical and mental strain related to work.|NCI|N|
C5668358|An ICD encounter due to other and unspecified problems related to employment.|NCI|N|
C5668359|An ICD encounter due to occupational exposure to other air contaminants.|NCI|N|
C5668360|An ICD encounter due to occupational exposure to toxic agents in other industries, including solids, liquids, gases or vapors.|NCI|N|
C5668361|An ICD encounter due to occupational exposure to other risk-factors.|NCI|N|
C5668362|An ICD encounter due to occupational exposure to unspecified risk-factor.|NCI|N|
C5668363|An ICD encounter due to problems related to physical environment, excluding occupational exposure (Z57.-).|NCI|N|
C5668364|An ICD encounter due to exposure to other pollution.|NCI|N|
C5668365|An ICD encounter due to inadequate drinking-water supply, excluding effects of thirst (T73.1).|NCI|N|
C5668366|An ICD encounter due to exposure to tobacco smoke, including passive smoking, excl.: mental and behavioral disorders due to the use of tobacco (F17.-), personal history of psychoactive substance abuse (Z86.4), tobacco use (Z72.0).|NCI|N|
C5668367|An ICD encounter due to other problems related to physical environment.|NCI|N|
C5668368|An ICD encounter due to problem related to physical environment, unspecified.|NCI|N|
C5668369|An ICD encounter due to problems related to living in residential institution, including boarding-school resident, excluding institutional upbringing (Z62.2).|NCI|N|
C5668370|An ICD encounter due to lack of adequate food, excluding effects of hunger (T73.0), inappropriate diet or eating habits (Z72.4), malnutrition (E40-E46).|NCI|N|
C5668371|An ICD encounter due to other problems related to housing and economic circumstances, including foreclosure on loan, isolated dwelling, problems with creditors.|NCI|N|
C5668372|An ICD encounter due to problem related to housing and economic circumstances, unspecified.|NCI|N|
C5668373|An ICD encounter due to problems related to social environment.|NCI|N|
C5668374|An ICD encounter due to problems of adjustment to life-cycle transitions, including adjustment to retirement [pension], empty nest syndrome.|NCI|N|
C5668375|An ICD encounter due to atypical parenting situation, including problems related to a parenting situation (rearing of children) with a single parent or other than that of two cohabiting biological parents.|NCI|N|
C5668376|An ICD encounter due to living alone.|NCI|N|
C5668377|An ICD encounter due to social exclusion and rejection, exclusion and rejection on the basis of personal characteristics, such as unusual physical appearance, illness or behavior, excluding target of adverse discrimination such as for racial or religious reasons (Z60.5).|NCI|N|
C5668378|An ICD encounter due to target of perceived adverse discrimination and persecution, including persecution or discrimination, perceived or real, on the basis of membership of some group (as defined by skin color, religion, ethnic origin, etc.) rather than personal characteristics, excluding social exclusion and rejection (Z60.4).|NCI|N|
C5668379|An ICD encounter due to other problems related to social environment.|NCI|N|
C5668380|An ICD encounter due to problem related to social environment, unspecified.|NCI|N|
C5668381|An ICD encounter due to problems related to negative life events in childhood, excluding social exclusion and rejection (Z60.4).|NCI|N|
C5668382|An ICD encounter due to loss of love relationship in childhood, including loss of an emotionally close relationship, such as of a parent, a sibling, a very special friend or a loved pet, by death or permanent departure or rejection.|NCI|N|
C5668383|An ICD encounter due to removal from home in childhood, including admission to a foster home, hospital or other institution causing psychosocial stress, or forced conscription into an activity away from home for a prolonged period.|NCI|N|
C5668384|An ICD encounter due to altered pattern of family relationships in childhood, including arrival of a new person into a family resulting in adverse change in child''s relationships, may include new marriage by a parent or birth of a sibling.|NCI|N|
C5668385|An ICD encounter due to events resulting in loss of self-esteem in childhood, including events resulting in a negative self-reappraisal by the child such as failure in tasks with high personal investment; disclosure or discovery of a shameful or stigmatizing personal or family event; and other humiliating experiences.|NCI|N|
C5668386|An ICD encounter due to problems related to alleged sexual abuse of child by person within primary support group, including problems related to any form of physical contact or exposure between an adult member of the child''s household and the child that has led to sexual arousal, whether or not the child has willingly engaged in the sexual acts (e.g. any genital contact or manipulation or deliberate exposure of breasts or genitals).|NCI|N|
C5668387|An ICD encounter due to problems related to alleged sexual abuse of child by person outside primary support group, including problems related to contact or attempted contact with the child''s or the other person''s breasts or genitals, sexual exposure in close confrontation or attempt to undress or seduce the child, by a substantially older person outside the child''s family, either on the basis of this person''s position or status or against the will of the child.|NCI|N|
C5668388|An ICD encounter due to problems related to alleged physical abuse of child, including problems related to incidents in which the child has been injured in the past by any adult in the household to a medically significant extent (e.g. fractures, marked bruising) or that involved abnormal forms of violence (e.g. hitting the child with hard or sharp implements, burning or tying up of the child).|NCI|N|
C5668389|An ICD encounter due to personal frightening experience in childhood, including experience carrying a threat for the child''s future, such as a kidnapping, natural disaster with a threat to life, injury with a threat to self-image or security, or witnessing a severe trauma to a loved one.|NCI|N|
C5668390|An ICD encounter due to other negative life events in childhood.|NCI|N|
C5668391|An ICD encounter due to negative life event in childhood, unspecified.|NCI|N|
C5668392|An ICD encounter due to other problems related to upbringing, excluding maltreatment syndromes (T74.-).|NCI|N|
C5668393|An ICD encounter due to institutional upbringing, including group foster care in which parenting responsibilities are largely taken over by some form of institution (such as residential nursery, orphanage, or children''s home), or therapeutic care over a prolonged period in which the child is in a hospital, convalescent home or the like, without at least one parent living with the child.|NCI|N|
C5668394|An ICD encounter due to other problems related to neglect in upbringing, including lack of learning and play experience.|NCI|N|
C5668395|An ICD encounter due to inappropriate parental pressure and other abnormal qualities of upbringing, including parents forcing the child to be different from the local norm, either sex-inappropriate (e.g. dressing a boy in girl''s clothes), age-inappropriate (e.g. forcing a child to take on responsibilities above her or his own age) or otherwise inappropriate (e.g. pressing the child to engage in unwanted or too difficult activities).|NCI|N|
C5668396|An ICD encounter due to other specified problems related to upbringing.|NCI|N|
C5668397|An ICD encounter due to problem related to upbringing, unspecified.|NCI|N|
C5668398|An ICD encounter due to other problems related to primary support group, including family circumstances, excluding maltreatment syndromes (T74.-), problems related to: negative life events in childhood (Z61.-), upbringing (Z62.-).|NCI|N|
C5668399|An ICD encounter due to problems in relationship with spouse or partner, including discord between partners resulting in severe or prolonged loss of control, in generalization of hostile or critical feelings or in a persisting atmosphere of severe interpersonal violence (hitting or striking).|NCI|N|
C5668400|An ICD encounter due to inadequate family support.|NCI|N|
C5668401|An ICD encounter due to disappearance and death of family member, including assumed death of family member.|NCI|N|
C5668402|An ICD encounter due to dependent relative needing care at home.|NCI|N|
C5668403|An ICD encounter due to other stressful life events affecting family and household, including anxiety (normal) about sick person in family, health problems within family, ill or disturbed family member, isolated family.|NCI|N|
C5668404|An ICD encounter due to other specified problems related to primary support group, including family discord not otherwise specified, high expressed emotional level within family, inadequate or distorted communication within family.|NCI|N|
C5668405|An ICD encounter due to problems related to multiparity, excluding supervision of pregnancy with grand multiparity (Z35.4).|NCI|N|
C5668406|An ICD encounter due to seeking and accepting physical, nutritional and chemical interventions known to be hazardous and harmful, excluding substance dependence - see Alphabetical Index.|NCI|N|
C5668407|An ICD encounter due to seeking and accepting behavioral and psychological interventions known to be hazardous and harmful.|NCI|N|
C5668408|An ICD encounter due to problems related to other psychosocial circumstances, excluding current injury - see Alphabetical Index.|NCI|N|
C5668409|An ICD encounter due to problems related to release from prison.|NCI|N|
C5668410|An ICD encounter due to victim of crime and terrorism, including victim of torture.|NCI|N|
C5668411|An ICD encounter due to other specified problems related to psychosocial circumstances.|NCI|N|
C5668412|An ICD encounter due to problem related to unspecified psychosocial circumstances.|NCI|N|
C5668438|The reemergence of indolent B-cell non-Hodgkin lymphoma after a period of remission.|NCI|N|
C5668439|The reemergence of indolent T-cell non-Hodgkin lymphoma after a period of remission.|NCI|N|
C5668440|Indolent B-cell non-Hodgkin lymphoma that is resistant to treatment.|NCI|N|
C5668441|Indolent T-cell non-Hodgkin lymphoma that is resistant to treatment.|NCI|N|
C5668449|A change in the nucleotide sequence of the PIK3R1 gene that either inhibits expression or results in the translation of an inactive phosphatidylinositol 3-kinase regulatory subunit alpha protein.|NCI|N|
C5668456|A change in the nucleotide sequence of the U2AF2 gene.|NCI|N|
C5668460|A molecular genetic abnormality indicating the presence of multiple copies of an NTRK family gene.|NCI|N|
C5669185|A change in the nucleotide sequence of the HSD3B1 gene.|NCI|N|
C5669186|A variation in the amino acid sequence for 3 beta-hydroxysteroid dehydrogenase/Delta 5->4-isomerase type 1.|NCI|N|
C5669187|A nucleotide substitution at position 1100 of the coding sequence of the HSD3B1 gene where adenine has been mutated to cytosine.|NCI|N|
C5669188|A change in the amino acid residue at position 367 in the 3 beta-hydroxysteroid dehydrogenase/Delta 5->4-isomerase type 1 protein where asparagine has been replaced by threonine.|NCI|N|
C5669189|A subjective response indicating that an individual is a little satisfied.|NCI|N|
C5669190|A subjective response indicating that an individual is quite satisfied.|NCI|N|
C5669191|A response indicating that an individual has not tried to have an orgasm or climax.|NCI|N|
C5669192|A response indicating that an individual has not had an orgasm or climax.|NCI|N|
C5669196|Any gain, loss, or exchange of DNA that results in monoallelic loss of function mutations in the BRCA1 gene.|NCI|N|
C5669197|Any gain, loss, or exchange of DNA that results in monoallelic loss of function mutations in the BRCA2 gene.|NCI|N|
C5669198|Any gain, loss, or exchange of DNA that results in monoallelic loss of function mutations in the PALB2 gene.|NCI|N|
C5669199|Any gain, loss, or exchange of DNA that results in monoallelic loss of function mutations in the RAD51 gene.|NCI|N|
C5669200|Any gain, loss, or exchange of DNA that results in monoallelic loss of function mutations in the RAD51B gene.|NCI|N|
C5669201|Any gain, loss, or exchange of DNA that results in monoallelic loss of function mutations in the RAD51C gene.|NCI|N|
C5669203|Any gain, loss, or exchange of DNA that results in monoallelic loss of function mutations in the RAD51D gene.|NCI|N|
C5669466|The latest diagnosis of the disease.|NCI|N|
C5669506|An individual history of a cancer occurring in the central nervous system, other than those listed.|NCI|N|
C5669507|An individual history of a rhabdoid tumor occurring in the central nervous system.|NCI|N|
C5669509|An indication that a subject with diabetes is able to control symptoms by modifying their diet.|NCI|N|
C5669516|An individual history of acute myeloid leukemia and induction failure.|NCI|N|
C5669517|An indication that a subject with diabetes is able to control symptoms using insulin-based therapies.|NCI|N|
C5669520|An indication that a subject a has a history that includes symptoms of liver toxicity that is not due to an infection.|NCI|N|
C5669528|An individual history of a cancer, other than those listed, within 5 years of the current cancer diagnosis.|NCI|N|
C5669529|An individual history of a hematologic disorder, other than those listed.|NCI|N|
C5669530|An individual history of a nonmalignant systemic disease, other than those listed.|NCI|N|
C5669531|An individual history of a pulmonary complication, other than those listed.|NCI|N|
C5669534|An indication that a subject a history of renal failure that required treatment with dialysis.|NCI|N|
C5669543|An indication that a subject previously diagnosed with undescended testicle experienced spontaneous resolution without intervention.|NCI|N|
C5669664|A response indicating that an individual did not attempt any sexual activity.|NCI|N|
C5669666|A score for tumor PD-L1 expression based on the percentage of viable tumor cells that are positive for PD-L1 staining.|NCI|N|
C5669672|Chronic liver disease that occurs secondary to, and after recovery from, hepatitis.|NCI|N|
C5669675|X-linked muscular dystrophy occurring in a dog.|NCI|N|
C5669676|The presence of more than one plasmacytoma arising in the bone, concurrently or sequentially, in the absence of bone marrow involvement by plasma cell myeloma.|NCI|N|
C5669677|Plasma cell myeloma involving the central nervous system. It manifests with single or multiple intraparenchymal lesions and/or leptomeningeal involvement. Patients present with diffuse cerebral dysfunction and nerve paralysis. The prognosis is poor.|NCI|N|
C5669678|A plasmacytoma that arises in the spleen.|NCI|N|
C5669679|A plasmacytoma that arises in the liver.|NCI|N|
C5669680|A plasmacytoma that arises in the lung.|NCI|N|
C5669683|An indication of whether a neoplastic sample is positive or negative for expression of CDKN2A-p16. Positive expression of CDKN2A-p16 indicates that the tumor is related to a current or prior HPV infection, especially infections caused by high-risk HPV genotypes.|NCI|N|
C5669685|Fibrolamellar carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5669686|Hilar cholangiocarcinoma that is not amenable to surgical resection.|NCI|N|
C5669687|Hilar cholangiocarcinoma that has spread from its original site of growth to another anatomic site.|NCI|N|
C5669688|Hilar cholangiocarcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5669689|Extrahepatic bile duct carcinoma that has spread from its original site of growth to another anatomic site.|NCI|N|
C5669690|Extrahepatic bile duct carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5669691|The reemergence of chordoma after a period of remission, at or adjacent to the site of the original tumor.|NCI|N|
C5669693|An individual history of pheochromocytoma or paraganglioma.|NCI|N|
C5669720|Histologic transformation of a lymphoplasmacytic lymphoma to an aggressive diffuse large B-cell lymphoma.|NCI|N|
C5669721|Histologic transformation of Waldenstrom macroglobulinemia to an aggressive diffuse large B-cell lymphoma.|NCI|N|
C5669723|A nucleotide substitution at position 1138 of the coding sequence of the FGFR3 gene where guanine has been mutated to cytosine.|NCI|N|
C5669724|A nucleotide substitution at position 2073 of the coding sequence of the FLT3 gene where thymine has been mutated to guanine.|NCI|N|
C5669725|Infiltration of the spleen by malignant (clonal) plasma cells in patients with history of plasma cell myeloma|NCI|N|
C5669726|Infiltration of the hepatic sinusoids by malignant (clonal) plasma cells in patients with history of plasma cell myeloma.|NCI|N|
C5669727|Infiltration of the kidney by malignant (clonal) plasma cells in patients with history of plasma cell myeloma.|NCI|N|
C5669728|Infiltration of the skin by malignant (clonal) plasma cells in patients with history of plasma cell myeloma.|NCI|N|
C5669729|The reemergence of hormone receptor-positive breast adenocarcinoma after a period of remission.|NCI|N|
C5669731|Colorectal carcinoma that has metastasized to a limited number of sites.|NCI|N|
C5669733|An astrocytoma associated with IDH1 or IDH2 gene mutations and absence of 1p/19q codeletion. It is classified as grade 2, 3, or 4.|NCI|N|
C5669734|A nucleotide substitution at position 1396 of the coding sequence of the BRAF gene where guanine has been mutated to adenine.|NCI|N|
C5669738|A morphologic finding indicating the presence of a cellular infiltrate composed of neoplastic cells with granular, PAS-positive cytoplasm in a tissue sample.|NCI|N|
C5669739|An astrocytoma characterized by the presence of large numbers of neoplastic cells with granular, PAS-positive cytoplasm. It is associated with an aggressive clinical course, even when the histologic features suggest a lower-grade astrocytoma.|NCI|N|
C5669740|A rare glioblastoma characterized by the presence of a predominant population of neoplastic cells with foamy cytoplasm.|NCI|N|
C5669744|Astrocytoma lacking mutations in IDH1 or IDH2 genes. It includes diffuse astrocytoma, IDH-wildtype and anaplastic astrocytoma, IDH-wildtype.|NCI|N|
C5669757|A composite score calculated from individual raw scores.|NCI|N|
C5669758|A score that reflects both short delayed recall performance and long delay recall performance.|NCI|N|
C5669759|A score that reflects total immediate recall, total delayed recall, and overall recall performance.|NCI|N|
C5669760|The sum of raw scores from all recall exercises.|NCI|N|
C5669766|A deletion of chromosomal material on the long arm of chromosome 6 involving bands p23 through p26. This chromosomal aberration results in the expression of the MYB/QKI fusion gene and is associated with angiocentric glioma.|NCI|N|
C5669769|A rare, low-grade diffuse glioma with morphological features of astrocytoma or oligodendroglioma, generally affecting children. It is characterized by a gene alteration that results in a MAPK pathway abnormality. The genetic abnormalities are typically a BRAF p.V600E substitution mutation, mutations or fusions involving the FGFR1 gene and internal tandem duplication (ITD) of the sequences of FGFR1 gene encoding the tyrosine kinase domain (TKD). The tumor is IDH-wildtype and does not have a homozygous deletion of CDKN2A gene.|NCI|N|
C5669770|Diffuse low-grade glioma characterized by internal tandem duplications of the sequences in the FGFR1 gene encoding the tyrosine kinase domain.|NCI|N|
C5669771|Diffuse low-grade glioma characterized by FGFR1 gene mutations, an internal tandem duplication within the FGFR1 gene or the presence of an FGFR1 fusion gene.|NCI|N|
C5669772|Diffuse low-grade glioma characterized by the presence of BRAF gene mutations encoding a p.V600E substitution mutation.|NCI|N|
C5669779|A change in the amino acid residue at position 1813 in the endoribonuclease Dicer protein where glutamic acid has been replaced by glycine.|NCI|N|
C5669780|A nucleotide substitution at position 5439 of the coding sequence of the DICER1 gene where guanine has been mutated to cytosine.|NCI|N|
C5669784|A familial phenotype characterized by a normal QT interval at rest, but major QT lengthening during catecholergic stimulation.|NCI|N|
C5669813|A complex substitution where the nucleotide sequence at positions 2303 and 2304 of the coding sequence of the EGFR gene has changed from guanine-cytosine to thymine-thymine.|NCI|N|
C5669816|Myelodysplastic syndromes/acute myeloid leukemias associated with germline SAMD9 mutation.|NCI|N|
C5669817|Myelodysplastic syndromes/acute myeloid leukemias associated with germline SAMD9L mutation.|NCI|N|
C5669820|Any change in the nucleotide sequence of an mRNA transcript, includes splicing variants and nucleotide mutations identified in a transcript.|NCI|N|
C5669821|The reemergence of vaginal squamous cell carcinoma after a period of remission.|NCI|N|
C5669822|Vaginal squamous cell carcinoma that is resistant to treatment.|NCI|N|
C5669823|Pancreatobiliary carcinoma that is resistant to treatment.|NCI|N|
C5669834|Age of subject (in days) at the end of the treatment cycle.|NCI|N|
C5669835|Age of subject (in days) at the beginning of the treatment cycle.|NCI|N|
C5669837|A nucleotide substitution at position 396 of the coding sequence of the TP53 gene where guanine has been mutated to thymine.|NCI|N|
C5669838|Infiltration of the lung by malignant (clonal) plasma cells in patients with history of plasma cell myeloma.|NCI|N|
C5669839|A finding indicating that Hodgkin lymphoma has spread to the spleen focally and there is associated involvement of the hilar lymph nodes.|NCI|N|
C5669861|A cytogenetic abnormality that refers to the deletion of the chromosomal band 11q22.3.|NCI|N|
C5669862|Nasal cavity squamous cell carcinoma that has spread to nearby tissues or lymph nodes.|NCI|N|
C5669863|Paranasal sinus squamous cell carcinoma that has spread to nearby tissues or lymph nodes.|NCI|N|
C5669877|A diffuse midline glioma characterized by H3 K27 alteration and usually either a histone H3 K27M mutation, an EGFR mutation, or aberrant overexpression of EZHIP. The prognosis is poor.|NCI|N|
C5669878|A diffuse midline glioma, H3 K27-altered, characterized by the presence of EGFR gene mutation.|NCI|N|
C5669879|A diffuse midline glioma, H3 K27-altered, characterized by the presence of EZHIP overexpression.|NCI|N|
C5669880|A WHO grade 4 diffuse glioma arising in the cerebral hemispheres. It is characterized by the presence of missense mutation of the H3-3A gene. The prognosis is poor.|NCI|N|
C5669882|A change in the amino acid residue at position 27 in histone H3 where lysine has been replaced by another amino acid.|NCI|N|
C5669884|A complex substitution where the sequence at positions 83 and 84 of the coding sequence of the H3-3A gene has changed from adenine-guanine to thymine-thymine.|NCI|N|
C5669885|A change in the amino acid residue at position 27 in histone H3 where lysine has been replaced by isoleucine.|NCI|N|
C5669886|A change in the amino acid residue at position 27 in histone H3.3 protein where lysine has been replaced by isoleucine.|NCI|N|
C5669887|Mesonephric adenocarcinoma that has spread from its original site of growth to another anatomic site.|NCI|N|
C5669888|An immunohistochemical finding indicating that less than 1 percent of the cells in a sample are expressing PD-L1.|NCI|N|
C5669894|A finding indicating that the blood concentration of prostate specific antigen in a subject''s sample has decreased by 90 percent or more over the value recorded for a previous sample from that subject.|NCI|N|
C5669901|Bone disorders that present in thalassemia patients.|NCI|N|
C5669902|A nucleotide substitution at position -211 in the upstream promoter region of the HBG2 gene where cytosine has been mutated to thymine.|NCI|N|
C5669903|A change in the nucleotide sequence of the BCL11A gene.|NCI|N|
C5669904|A change in the nucleotide sequence of the TCIRG1 gene.|NCI|N|
C5669906|An intergenic deletion of a three nucleotide sequence, cytosine-thymine-adenine, in the region between the HBS1L and MYB genes on chromosome 6 at genomic positions 135097497 through 135097499.|NCI|N|
C5669907|A change in the nucleotide sequence of the KLF1 gene.|NCI|N|
C5669908|A variation in the amino acid sequence for the Krueppel-like factor 1 protein.|NCI|N|
C5669909|A nucleotide substitution at position 892 of the coding sequence of the KLF1 gene where guanine has been mutated to cytosine.|NCI|N|
C5669910|A nucleotide substitution at position 115 of the coding sequence of the KLF1 gene where adenine has been mutated to cytosine.|NCI|N|
C5669911|A change in the amino acid residue at position 298 in the Krueppel-like factor 1 protein where alanine has been replaced by proline.|NCI|N|
C5669912|A change in the amino acid residue at position 39 in the Krueppel-like factor 1 protein where methionine has been replaced by leucine.|NCI|N|
C5669913|A molecular abnormality indicating rearrangement involving one or both of the genes that encode hemoglobin subunit alpha, HBA1 and HBA2, which are located in the vicinity of 16p13.3.|NCI|N|
C5669914|A cytogenetic abnormality where one copy of chromosome 16 has a 3.7 kb chromosomal deletion in the vicinity of 16p13.3, which is the region containing the 2 genes that encode hemoglobin subunit alpha (HBA; alpha-globin), HBA1 and HBA2. This chromosomal deletion either deletes one of these two genes (usually HBA1) or results in a single copy of a functional, in-frame fusion of the two HBA genes.|NCI|N|
C5669915|A complex cytogenetic abnormality where one copy of chromosome 16 has undergone chromosomal rearrangement in the vicinity of 16p13.3, which is the region containing the 2 genes that encode hemoglobin subunit alpha (HBA; alpha-globin), HBA1 and HBA2. This rearrangement results in amplification of a 3.7 kb fragment containing of one of the HBA genes (usually HBA2) and may lead to simultaneous deletion of the other HBA gene (usually HBA1).|NCI|N|
C5669916|A molecular genetic abnormality indicating the presence of multiple copies of the BRD4 gene.|NCI|N|
C5669918|An aggressive, WHO grade 4 diffuse brain glioma usually affecting children, adolescents, or young adults. It is characterized by the absence of histone H3, IDH1, and IDH2 mutations. It includes the following subtypes, based on DNA methylation profiles: diffuse pediatric-type high grade glioma RTK1, diffuse pediatric-type high grade glioma RTK2, and diffuse pediatric-type high grade glioma MYCN.|NCI|N|
C5669919|A high-grade cellular astrocytoma that arises in the cerebral hemisphere and occurs in early childhood. It is characterized by receptor tyrosine kinase fusions in the NTRK family, ROS1, ALK, or MET genes. It includes the following subtypes: infant-type hemispheric glioma, NTRK-altered, infant-type hemispheric glioma, ROS1-altered, infant-type hemispheric glioma, ALK-altered, and infant-type hemispheric glioma, MET-altered.|NCI|N|
C5669920|A high-grade cellular astrocytoma that arises in the cerebral hemisphere and occurs in early childhood. It is characterized by receptor tyrosine kinase fusions in the NTRK family.|NCI|N|
C5669921|A high-grade cellular astrocytoma that arises in the cerebral hemisphere and occurs in early childhood. It is characterized by receptor tyrosine kinase fusions in the ROS1 gene.|NCI|N|
C5669922|A high-grade cellular astrocytoma that arises in the cerebral hemisphere and occurs in early childhood. It is characterized by receptor tyrosine kinase fusions in the ALK gene.|NCI|N|
C5669923|A high-grade cellular astrocytoma that arises in the cerebral hemisphere and occurs in early childhood. It is characterized by receptor tyrosine kinase fusions in the MET gene.|NCI|N|
C5669924|Bulk at an alternate site to the thorax defined as any mass measuring 10 cm or more by any imaging study.|NCI|N|
C5669925|A single lesion in bulky nodal disease.|NCI|N|
C5669929|An individual was conceived with assistance to natural conception methods.|NCI|N|
C5669932|Age of subject (in days) at assessment of lesion.|NCI|N|
C5669939|An indication that a neoplastic disease, usually non-muscle invasive bladder cancer (NMIBC), is unresponsive to bacillus Calmette-Guerin (BCG) induction therapy and that additional BCG therapy is unlikely to benefit the subject. Unresponsive subjects include those with recurrent disease within 12 months of the completion of adequate BCG therapy, recurrent high-grade disease within 6 months of the completion of adequate BCG therapy or high-grade disease at the first evaluation after a BCG induction course.|NCI|N|
C5669945|A genetic finding indicating the genetic composition in a subject for the genes that encode hemoglobin subunits.|NCI|N|
C5669946|A genetic finding indicating the genotype in a subject for the genes that encode hemoglobin subunit alpha, HBA1 and HBA2. Since the two HBA genes encode the same protein and are co-located on chromosome 16, the normal genotype is comprised of 2 maternal alpha genes and 2 paternal alpha genes (aa/aa).|NCI|N|
C5669947|A genetic finding indicating that one copy of chromosome 16 has two functional copies of the hemoglobin alpha (HBA) genes and the other copy of chromosome 16 has three functional copies due to chromosomal rearrangement. This genotype is associated with the alpha thalassemia silent carrier trait.|NCI|N|
C5669948|A genetic finding indicating that both copies of chromosome 16 each has two functional copies of the hemoglobin alpha (HBA) genes, which includes 2 maternal alpha genes and 2 paternal alpha genes. This genotype is characterized by normal alpha globin production.|NCI|N|
C5669949|A genetic finding indicating that one copy of chromosome 16 has two functional copies of the hemoglobin alpha (HBA) genes and the other copy of has only one functional HBA gene. This genotype is associated with the alpha thalassemia silent trait.|NCI|N|
C5669956|A genetic finding indicating that one copy of chromosome 16 has two functional copies of the hemoglobin alpha (HBA) genes and the other copy of has no functional HBA genes. This genotype is associated with the alpha thalassemia trait.|NCI|N|
C5669957|A genetic finding indicating that both copies of chromosome 16 each have only one functional hemoglobin alpha (HBA) gene. This genotype is associated with the alpha thalassemia trait.|NCI|N|
C5669961|A genetic finding indicating that one copy of chromosome 16 has only one functional copy of a hemoglobin alpha (HBA) gene and the other copy of has no functional HBA genes. This genotype is associated with hemoglobin H disease.|NCI|N|
C5669962|One lymph node affected.|NCI|N|
C5669963|More than one lymph node affected.|NCI|N|
C5669964|A genetic finding indicating that one copy of chromosome 16 has one functional copy of a hemoglobin alpha (HBA) gene and one copy that encodes an HBA stop loss mutation called hemoglobin Constant Spring (CS), while the other copy of chromosome 16 has no functional HBA genes. This genotype is associated with a severe form of hemoglobin H disease.|NCI|N|
C5669966|A genetic finding indicating that neither copy of chromosome 16 has any functional copies of the hemoglobin alpha (HBA) genes. This genotype is associated with hemoglobin Barts.|NCI|N|
C5669967|A genetic finding indicating the genotype composition in a subject for the HBB gene that is located on chromosome 16 and encodes hemoglobin subunit beta. There is one maternal copy and one paternal copy of the HBB gene (B/B).|NCI|N|
C5669968|A genetic finding indicating that both copies of chromosome 16 each have one functional copy of the hemoglobin beta (HBB) gene. This genotype is characterized by normal beta globin production.|NCI|N|
C5669969|A genetic finding indicating that both copies of chromosome 16 each have a copy of the hemoglobin beta gene (HBB) with mutations that lead to hemoglobin subunit beta insufficiency (B+). This genotype is associated with beta thalassemia intermedia.|NCI|N|
C5669971|A second attempt to perform a total resection.|NCI|N|
C5669972|A genetic finding indicating that one copy of chromosome 16 has a hemoglobin beta gene (HBB) with mutations that lead to hemoglobin subunit beta insufficiency (B+) and the other copy has HBB loss of function or gene deletion mutations (B0). This genotype is associated with beta thalassemia intermedia.|NCI|N|
C5669974|A genetic finding indicating that one copy of chromosome 16 has a hemoglobin beta gene (HBB) with mutations that lead to hemoglobin subunit beta insufficiency (B+) and the other copy has an HBB mutation that produces a hemoglobin subunit beta variant, the hemoglobin beta E variant, where the glutamic acid residue at position 27 has been replaced by lysine (BE). This genotype is associated with beta thalassemia intermedia.|NCI|N|
C5669975|A genetic finding indicating that one copy of chromosome 16 has a hemoglobin beta gene (HBB) with a mutation that produces a hemoglobin subunit beta variant, the hemoglobin beta E variant, where the glutamic acid residue at position 27 has been replaced by lysine (BE) and the other copy has HBB loss of function or gene deletion mutations (B0). This genotype is associated with beta thalassemia intermedia.|NCI|N|
C5669976|A genetic finding indicating that both copies of chromosome 16 each have a copy of the hemoglobin beta gene (HBB) with loss of function or gene deletion mutations (B0). This genotype is associated with beta thalassemia major.|NCI|N|
C5669979|A nucleotide substitution at position 79 of the coding sequence of the HBB gene where guanine has been mutated to adenine.|NCI|N|
C5669980|A change in the amino acid residue at position 27 in the hemoglobin subunit beta protein where glutamic acid has been replaced by lysine.|NCI|N|
C5669981|A change in the nucleotide sequence of the HBA2 gene.|NCI|N|
C5669982|A variation in the amino acid sequence for the hemoglobin subunit alpha protein.|NCI|N|
C5669983|A nucleotide substitution at position 427 of the coding sequence of the HBA2 gene where thymine has been mutated to cytosine.|NCI|N|
C5669984|A genetic finding indicating that one copy of chromosome 16 has a functional copy (B) of the hemoglobin beta gene (HBB) and the other copy has HBB mutations that lead to hemoglobin subunit beta insufficiency (B+). This genotype is associated with beta thalassemia minor.|NCI|N|
C5669985|A genetic finding indicating that one copy of chromosome 16 has a functional copy (B) of the hemoglobin beta gene (HBB) and the other copy has HBB loss of function or gene deletion mutations (B0). This genotype is associated with beta thalassemia minor.|NCI|N|
C5669987|A semi-quantitative microscopic finding indicating that immature mononuclear cells are found at greater than or equal to 5000 per milliliter in a sample.|NCI|N|
C5669990|Age of subject (in days) at the time of imaging test.|NCI|N|
C5669992|Age of subject (in days) at the time of the function test.|NCI|N|
C5669995|Age of subject (in days) since the protocol treatment modification.|NCI|N|
C5670001|A melanoma that affects the lip and/or oral cavity of a dog.|NCI|N|
C5670005|Organ dysfunction that was present prior to evaluation.|NCI|N|
C5670014|An evaluation prior to the completion of therapy that the individual is responding to therapy.|NCI|N|
C5670015|An evaluation prior to the completion of therapy that the individual is responding rapidly to therapy.|NCI|N|
C5670016|An evaluation prior to the completion of therapy that the individual is responding slowly to therapy.|NCI|N|
C5670017|An adverse event affecting the immune system.|NCI|N|
C5670019|An adverse event that can be related to an infusion.|NCI|N|
C5670022|Age of subject (in days) when the late effect evaluation was performed.|NCI|N|
C5670026|Clinical suspicion for germ cell failure not proven with testing.|NCI|N|
C5670027|A germ cell failure confirmed with testing.|NCI|N|
C5670029|A fibrous connection of tissue that joins together normally separate gastrointestinal regions.|NCI|N|
C5670030|Damage to the renal tubules.|NCI|N|
C5670034|The outer aspect of the x-ray therapy field.|NCI|N|
C5670035|Underdevelopment or incomplete development of the musculoskeletal system.|NCI|N|
C5670036|Raters are allowed to report the patient reported outcomes.|NCI|N|
C5670045|The result of HER2/Neu status as determined by immunohistochemical detection.|NCI|N|
C5670046|A non-Hodgkin lymphoma that arises from an anatomic site other than a lymph node.|NCI|N|
C5670119|A change in the nucleotide sequence of the ARSA gene.|NCI|N|
C5670120|A change in the nucleotide sequence of the PSAP gene.|NCI|N|
C5670122|An astrocytoma characterized by high-grade piloid and/or glioblastoma-like histological features. It may occur anywhere in the central nervous system but most often arises in the posterior fossa. Alterations in the following three pathways are responsible for the pathogenesis of this tumor: MAPK pathway, retinoblastoma tumor suppressor protein cell-cycle pathway, and telomere maintenance pathway.|NCI|N|
C5670123|Hormone receptor-positive breast carcinoma that has spread from its original site of growth to another anatomic site.|NCI|N|
C5670124|Hormone receptor-positive breast carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5670125|Malignant gastrointestinal stromal tumor that is resistant to treatment.|NCI|N|
C5670127|In normal, non-stem cells, telomeres shorten with each cell division, which eventually leads to short telomeres that cannot be capped and cell cycle arrest (cell senescence). The activation of telomerase length maintenance pathways in tumor cells allows them to escape senescence and replicate indefinitely. These pathways can be aberrantly activated either through telomerase reactivation, which occurs due to mutations in the TERT gene or its promoter, or through an alternative lengthening of telomeres (ALT) pathway, which is usually associated with mutations in the ATRX gene.|NCI|N|
C5670128|A molecular abnormality indicating rearrangement of the MN1 gene.|NCI|N|
C5670136|A variation in the amino acid sequence for the protein kinase C alpha type protein.|NCI|N|
C5670137|A nucleotide substitution at position 1387 of the coding sequence of the PRKCA gene where guanine has been mutated to cytosine.|NCI|N|
C5670138|A change in the amino acid residue at position 463 in the protein kinase C alpha type protein where aspartic acid has been replaced by histidine.|NCI|N|
C5670167|An irregularity in the structure of chromosome 14.|NCI|N|
C5670168|A chromosomal abnormality consisting of the absence of one of the copies of chromosome 14.|NCI|N|
C5670169|A molecular genetic abnormality indicating the presence of a fusion gene involving sequences derived from the PRKCA gene.|NCI|N|
C5670170|A change in the amino acid residue at position 797 in the epidermal growth factor receptor protein where cysteine has been replaced by another amino acid.|NCI|N|
C5670171|A change in the amino acid residue at position 797 in the epidermal growth factor receptor protein where cysteine has been replaced by another amino acid and is resistant to tyrosine kinase inhibitor therapies.|NCI|N|
C5670172|A molecular genetic abnormality indicating the presence of a deletion mutation in exon 19 of the EGFR gene that results in constitutive epidermal growth factor receptor-dependent signal transduction and activation of downstream signaling pathways.|NCI|N|
C5670173|Expression of a fusion protein that results from a fusion of the human genes KIAA1549 and BRAF.|NCI|N|
C5670176|Expression of a fusion protein that results from a fusion of the human genes FGFR1 and TACC1.|NCI|N|
C5670182|Triple-negative breast inflammatory carcinoma that has spread from its original site of growth to another anatomic site.|NCI|N|
C5670364|An indication that the subject has not opted to continue into a subsequent trial segment.|NCI|N|
C5670365|An indication that the subject has opted to continue into a subsequent trial segment.|NCI|N|
C5670378|The abnormal presence of fluid or other biological material.|NCI|N|
C5670379|The entity is firmly attached to the cornea.|NCI|N|
C5670380|A deviation or alteration in the arrangement of vessels.|NCI|N|
C5670381|Common origin for left subclavian and left carotid arteries.|NCI|N|
C5670384|Abnormally or irregularly shaped ossification site.|NCI|N|
C5670388|The presence of only one incisor socket.|NCI|N|
C5670389|More than the usual or expected number of vessel branches.|NCI|N|
C5670390|More than the usual or expected number of lobes.|NCI|N|
C5670391|More than the usual or expected number of ossification sites.|NCI|N|
C5670392|More than the usual or expected number of articulated ribs.|NCI|N|
C5670393|An additional rib-like structure usually between two other ribs, not articulated with the vertebral column. (Makris S, Solomon HM, Clark R, Shiota K, Barbellion S, Buschmann J, Ema M, Fujiwara M, Grote K, Hazelden KP, Hew KW, Horimoto M, Ooshima Y, Parkinson M, Wise LD. Terminology of developmental abnormalities in common laboratory mammals (Version 2). Part B. Birth Defects Res B Dev Reprod Toxicol. 2009 Aug;86(4):227-327.)|NCI|N|
C5670394|An ossification site that is situated in only one of two or more primary ossification centers.|NCI|N|
C5670410|Ovarian high-grade serous adenocarcinoma that is not amenable to surgical resection.|NCI|N|
C5670411|Ovarian endometrioid adenocarcinoma that is not amenable to surgical resection.|NCI|N|
C5670412|Fallopian tube endometrioid adenocarcinoma that is not amenable to surgical resection.|NCI|N|
C5670413|Primary peritoneal high-grade serous adenocarcinoma that is not amenable to surgical resection.|NCI|N|
C5670414|Primary peritoneal endometrioid adenocarcinoma that is not amenable to surgical resection.|NCI|N|
C5670415|Cutaneous T-cell lymphoma occurring in a dog.|NCI|N|
C5670416|The presence of mutations in both alleles of the SMARCA4 gene.|NCI|N|
C5670417|The presence of mutations in both alleles of the SMARCB1 gene.|NCI|N|
C5670419|HER2-positive breast carcinoma that has spread from its original site of growth to nearby tissues or lymph nodes and is not amenable to surgical resection.|NCI|N|
C5670420|HER2-positive breast carcinoma that is not amenable to surgical resection.|NCI|N|
C5670421|An indication that an assay did not return a valid result.|NCI|N|
C5670422|An indication that the data can be evaluated and that the quality control metrics were good.|NCI|N|
C5670423|An indication that the data can be evaluated even though the quality control metrics were not good.|NCI|N|
C5670424|An indication that a DNA isolation procedure yielded an insufficient amount of DNA to proceed.|NCI|N|
C5670425|An indication that an RNA isolation procedure yielded an insufficient amount of RNA to proceed.|NCI|N|
C5670426|An indication that a protein isolation procedure yielded an insufficient amount of protein to proceed.|NCI|N|
C5670429|An indication that an assay should be repeated.|NCI|N|
C5670470|A circumscribed ependymoma that arises from the supratentorial region of the brain. The diagnosis of supratentorial ependymoma should be made either when genetic analysis did not reveal a fusion gene involving ZFTA or YAP1 genes (not elsewhere classified -NEC) or when the genetic analysis was unsuccessful or not reported (not otherwise specified-NOS).|NCI|N|
C5670472|A molecular abnormality indicating rearrangement of the ZFTA gene.|NCI|N|
C5670473|A molecular abnormality indicating rearrangement of the YAP1 gene.|NCI|N|
C5670474|A circumscribed ependymoma that arises from the supratentorial region of the brain, characterized by the absence of a fusion gene involving ZFTA or YAP1 genes.|NCI|N|
C5670475|A circumscribed ependymoma that arises from the supratentorial region of the brain. It is characterized by the presence of a fusion gene involving ZFTA gene. Available data indicate that it has the poorest prognosis of all supratentorial ependymomas.|NCI|N|
C5670476|An uncommon circumscribed ependymoma that arises from the supratentorial region of the brain. It affects young children and is characterized by the presence of a fusion gene involving YAP1 gene. Available data indicate that it has a favorable prognosis as compared to other supratentorial ependymomas.|NCI|N|
C5670480|A supratentorial ependymoma characterized by a gene fusion involving YAP1 and MAMLD1 genes.|NCI|N|
C5670482|A finding indicating that there is no information regarding the presence or absence of YAP1 and ZFTA gene rearrangements in a tumor sample.|NCI|N|
C5670483|A finding indicating that the rearrangement status of YAP1 and ZFTA genes in a tumor sample is unknown or negative.|NCI|N|
C5670484|A finding indicating the central nervous system site of involvement by an ependymal tumor.|NCI|N|
C5670485|A change in the nucleotide sequence of the EPAS1 gene.|NCI|N|
C5670486|A change in the nucleotide sequence of the ELOC gene.|NCI|N|
C5670491|A semi-quantitative microscopic finding indicating that less than 0.01 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.|NCI|N|
C5670534|A finding indicating that the ratio of serum prostate specific antigen to prostate volume is less than 0.2 ng/ml/g.|NCI|N|
C5670535|A genetic finding indicating decreased DNA methylation (in the form of decreased amounts of 5-methylcytosine) in CpG islands and promoter regions across the genome in an individual subject.|NCI|N|
C5670537|A molecular genetic finding indicating the hypermethylation of multiple promoter-associated CpG islands in a tumor sample.|NCI|N|
C5670538|A molecular genetic finding indicating the loss or reduction of nuclear histone H3 K28me3 (K27me3) expression in tumor cells.|NCI|N|
C5670542|A circumscribed ependymoma that arises in the posterior fossa. The diagnosis of posterior fossa ependymoma should be made either when molecular analysis for DNA methylation profiling cannot assign a molecular group (not elsewhere classified -NEC) or when the molecular analysis for DNA methylation profiling was unsuccessful or not reported (not otherwise specified-NOS).|NCI|N|
C5670543|A finding indicating that there is either no information regarding molecular analysis for DNA methylation profiling or molecular analysis did not reveal a distinct DNA methylation profiling group in a tumor sample.|NCI|N|
C5670544|A finding indicating that there is no information regarding molecular analysis for DNA methylation profiling in a tumor sample.|NCI|N|
C5670545|A finding indicating that molecular analysis for DNA methylation profiling did not identify a distinct molecular group in a tumor sample.|NCI|N|
C5670546|A circumscribed ependymoma that arises in the posterior fossa in which molecular analysis for DNA methylation profiling cannot assign a molecular group.|NCI|N|
C5670547|A circumscribed ependymoma that arises in the posterior fossa in which molecular analysis for DNA methylation profiling was unsuccessful or not reported.|NCI|N|
C5670548|A circumscribed ependymoma that arises in the posterior fossa with characteristic DNA methylation patterns, including CpG island hypermethylation, global DNA hypomethylation, reduction of nuclear H3 p.K28me3 (K27me3) expression, and EZHIP overexpression. It usually occurs in children younger than five years. PFA ependymomas have a worst prognosis compared to PFB ependymomas.|NCI|N|
C5670549|A circumscribed ependymoma that arises in the posterior fossa with characteristic DNA methylation patterns including retention of nuclear H3 p.K28me3 (K27me3) expression, absence of CpG island hypermethylation, absence of global DNA hypomethylation, and absence of EZHIP overexpression. Widespread cytogenetic abnormalities are present. Frequent chromosomal aberrations include loss of 22q, monosomy 6, and trisomy 18. It occurs in children older than five years and adults and has a relatively good prognosis.|NCI|N|
C5670550|A finding indicating the presence of cytogenetic abnormalities in a sample.|NCI|N|
C5670551|Primary peritoneal high-grade serous adenocarcinoma that has spread from its original site of growth to another anatomic site.|NCI|N|
C5670552|Ovarian high-grade serous adenocarcinoma that has spread from its original site of growth to another anatomic site.|NCI|N|
C5670553|Prostate adenocarcinoma with neuroendocrine differentiation that has spread from its original site of growth to another anatomic site.|NCI|N|
C5670554|Prostate adenocarcinoma with neuroendocrine differentiation that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5670556|An indication that the PSA level in a blood sample was not detected or below the detection limit.|NCI|N|
C5670557|The classification of a canine neoplasm based on the clinically determined disease extent and symptomology.|NCI|N|
C5670558|A canine neoplasm that is confined to the primary site.|NCI|N|
C5670559|A canine neoplasm that is confined to the primary site, without systemic symptoms.|NCI|N|
C5670560|A canine neoplasm that is invasive and may have spread to local lymph nodes.|NCI|N|
C5670561|A canine neoplasm that is confined to the primary site, without systemic symptoms.|NCI|N|
C5670562|A canine neoplasm that is invasive and may have spread to local lymph nodes with systemic symptoms.|NCI|N|
C5670563|A canine neoplasm that has spread to one or more local sites or organs.|NCI|N|
C5670564|A canine neoplasm that has spread to one or more local sites or organs, without systemic symptoms.|NCI|N|
C5670565|A canine neoplasm that has spread to one or more local sites or organs, with systemic symptoms.|NCI|N|
C5670567|A canine neoplasm with distant metastasis or a recurrent neoplasm.|NCI|N|
C5670568|A canine neoplasm with distant metastasis or a recurrent neoplasm, without systemic symptoms.|NCI|N|
C5670569|A canine neoplasm with distant metastasis or a recurrent neoplasm, with systemic symptoms.|NCI|N|
C5670578|The reemergence of diffuse large B-cell lymphoma that resulted from the transformation of indolent B-cell non-Hodgkin lymphoma, after a period of remission.|NCI|N|
C5670579|Diffuse large B-cell lymphoma that resulted from the transformation of indolent B-cell non-Hodgkin lymphoma and is resistant to treatment.|NCI|N|
C5670580|A fungal infection that is resistant to treatment.|NCI|N|
C5670583|A rare, aggressive ependymoma that arises from the spinal cord. It displays microvascular proliferation, necrosis, and high mitotic rate. It is characterized by high-level MYCN amplification. Cytogenetic abnormalities include loss of chromosome 10 and focal losses on chromosome 11q. The prognosis is poor.|NCI|N|
C5670584|An ependymoma of the spinal cord not associated with MYCN amplification and occurring in children.|NCI|N|
C5670590|A molecular abnormality referring to the loss of both copies of the MTAP gene|NCI|N|
C5670592|A change in the nucleotide sequence of the MTAP gene.|NCI|N|
C5670593|A change in the nucleotide sequence of the MTAP gene that either inhibits expression or results in the translation of an inactive S-methyl-5''-thioadenosine phosphorylase protein.|NCI|N|
C5670598|The reemergence of T-lymphoblastic lymphoma after a period of remission.|NCI|N|
C5670614|An embryonal tumor with multilayered rosettes characterized by the presence of DICER1 mutation. Approximately half of embryonal tumors with multilayered rosettes that lack a C19MC alteration carry DICER1 mutations.|NCI|N|
C5670621|A central nervous system embryonal tumor lacking molecular abnormalities that would classify it as one of the molecularly defined central nervous system embryonal neoplasms.|NCI|N|
C5670622|A finding indicating that there are no molecular abnormalities detected in a tumor sample.|NCI|N|
C5670623|A molecular abnormality indicating rearrangement of the FOXR2 gene.|NCI|N|
C5670624|A change in the nucleotide sequence of the RAD54B gene.|NCI|N|
C5670625|A rare central nervous system neoplasm with neuroblastic and/or neuronal differentiation. It is characterized by the presence of structural rearrangements of FOXR2 gene that result in the activation of the transcription factor FOXR2.|NCI|N|
C5670630|A rare central nervous system embryonal tumor characterized by the presence of uniform oval or spindle-shaped cells with round or oval nuclei, pseudorosette formation, and heterozygous internal tandem duplication in exon 15 of the BCOR gene.|NCI|N|
C5670633|A semiquantitative finding indicating that the concentration of testosterone in a sample is less than 300 ng/dL.|NCI|N|
C5670640|A change in the nucleotide sequence of the KBTBD4 gene.|NCI|N|
C5670641|An in-frame nucleotide insertion affecting six codons or less in the KBTBD4 gene.|NCI|N|
C5670642|A change in the nucleotide sequence of the TRAF7 gene.|NCI|N|
C5670643|An indication that biomarkers of neoplastic disease are present in less than 0.2 percent of a post-therapy sample.|NCI|N|
C5670646|A change in the nucleotide sequence of the SMARCE1 gene.|NCI|N|
C5670647|A change in the nucleotide sequence of the KLF4 gene.|NCI|N|
C5670648|A change in the nucleotide sequence of the PBRM1 gene.|NCI|N|
C5670649|The expression of traits associated with a disease or abnormality, or the loss of expression of traits associated with a normal or healthy phenotype.|NCI|N|
C5670650|A change in the nucleotide sequence of the ELP1 gene.|NCI|N|
C5670651|A change in the nucleotide sequence of the ELP1 gene that originates in the gametes.|NCI|N|
C5670652|An SHH-activated, TP53-wildtype medulloblastoma caused by germline ELP1 gene variations and develops during childhood.|NCI|N|
C5670653|An autosomal dominant syndrome caused by germline ELP1 gene variations and characterized by an increased risk of developing SHH-activated, TP53-wildtype medulloblastoma during childhood.|NCI|N|
C5670656|A central nervous system solitary fibrous tumor characterized by the presence of areas of abrupt transition to high grade sarcoma.|NCI|N|
C5670657|A rare, undifferentiated, high grade small round cell sarcoma that arises from the central nervous system. It is characterized by a recurrent translocation involving the CIC gene on chromosome 19 resulting in CIC gene fusion with different gene partners.|NCI|N|
C5670658|Rearrangement of the UBTF gene involving either in-frame insertions at the 3'' end of exon 13 or in-frame duplications of exon 13. These rearrangements encode duplications of leucine-rich sequences of the high mobility group domain 4 of the nucleolar transcription factor 1 protein, which may promote cellular transformation and is associated with pediatric acute myeloid leukemia.|NCI|N|
C5670659|A molecular abnormality indicating rearrangement of the UBTF gene.|NCI|N|
C5670660|A primary intracranial sarcoma composed of malignant pleomorphic or spindle neoplastic cells typically demonstrating myogenic and/or chondroid differentiation. Cytoplasmic eosinophilic globules and myxoid stroma formation are usually present. It is associated with mutations in the DICER1 gene.|NCI|N|
C5670661|Ewing sarcoma that arises in the central nervous system.|NCI|N|
C5670664|A provisional entity that refers to a group of neoplasms with a broad morphological spectrum, characterized by fusion of a FET family gene (usually EWSR1 and rarely FUS) with a member of the CREB family of transcription factors (CREB1, ATF1, or CREM). It includes entities previously termed intracranial angiomatoid fibrous histiocytoma or intracranial myxoid mesenchymal tumor. It is usually located in the supratentorial brain and mostly affects children and young adults. There is a spectrum of clinical behaviors ranging from slowly growing tumors to rapid recurrences, and rarely metastases.|NCI|N|
C5670668|The carcinoma is strictly confined to the cervix (extension to the uterine corpus should be disregarded). (FIGO 2009)|NCI|N|
C5670669|Cervical carcinoma measuring equal or less than 5 mm in depth and equal or less than 7 mm in width. (FIGO 2009)|NCI|N|
C5670670|Cervical carcinoma measuring equal or less than 3 mm in depth. (FIGO 2009)|NCI|N|
C5670671|Cervical carcinoma measuring more than 3 mm and not more than 5 mm in depth. (FIGO 2009)|NCI|N|
C5670672|Cervical carcinoma measuring more than 5 mm in depth. (FIGO 2009)|NCI|N|
C5670673|Cervical carcinoma measuring more than 5 mm in depth and equal or less than 4 cm in maximum diameter. (FIGO 2009)|NCI|N|
C5670674|Cervical carcinoma measuring more than 5 mm in depth and more than 4 cm in maximum diameter. (FIGO 2009)|NCI|N|
C5670675|Cervical carcinoma invading beyond the uterus but not extending onto the lower third of the vagina or to the pelvic wall. (FIGO 2009)|NCI|N|
C5670676|Cervical carcinoma limited to the upper two-thirds of the vagina. (FIGO 2009)|NCI|N|
C5670677|Cervical carcinoma limited to the upper two-thirds of the vagina and is equal or less than 4 cm in diameter. (FIGO 2009)|NCI|N|
C5670678|Cervical carcinoma limited to the upper two-thirds of the vagina and measuring more than 4 cm in diameter. (FIGO 2009)|NCI|N|
C5670679|Cervical carcinoma with parametrial invasion. (FIGO 2009)|NCI|N|
C5670680|Cervical carcinoma involving lower one-third of the vagina. (FIGO 2009)|NCI|N|
C5670681|Cervical carcinoma involving the pelvic sidewall. (FIGO 2009)|NCI|N|
C5670682|Cervical carcinoma involving adjacent and distant organs. (FIGO 2009)|NCI|N|
C5670683|Cervical carcinoma with rectal or bladder involvement. (FIGO 2009)|NCI|N|
C5670684|Cervical carcinoma involving distal organs outside the pelvis. (FIGO 2009)|NCI|N|
C5670687|A circumscribed neoplasm that arises from leptomeningeal melanocytes. This category includes meningeal melanocytoma, meningeal melanoma, and meningeal melanocytoma of intermediate grade.|NCI|N|
C5670688|A circumscribed meningeal melanocytic neoplasm with bland histological features and increased mitotic activity or invasion of the central nervous system.|NCI|N|
C5670691|A lymphoma that arises from the central nervous system in patients with acquired immunodeficiency conditions or rarely, hereditary immunodeficiency syndromes.|NCI|N|
C5670692|A diffuse large B-cell lymphoma that arises from the central nervous system in AIDS patients.|NCI|N|
C5670693|Rosai-Dorfman disease affecting the central nervous system. It presents with localized or multiple dural masses, parenchymal, and/or intrasellar lesions.|NCI|N|
C5670701|An indication of what method was used to normalize the data.|NCI|N|
C5670704|A change in the nucleotide sequence of the DICER1 gene that originates in the gametes and either inhibits expression or results in the translation of an inactive endoribonuclease Dicer protein.|NCI|N|
C5670705|A change in the nucleotide sequence of the SMARCB1 gene that originates in the gametes.|NCI|N|
C5670706|A change in the nucleotide sequence of the LZTR1 gene that originates in the gametes.|NCI|N|
C5670707|Schwannomatosis caused by germline mutations in the SMARCB1 gene.|NCI|N|
C5670708|Schwannomatosis caused by germline mutations in the LZTR1 gene.|NCI|N|
C5670711|A nucleotide substitution at position 1225 of the coding sequence of the KLF4 gene where adenine has been mutated to cytosine.|NCI|N|
C5670712|A variation in the amino acid sequence for the Krueppel-like factor 4 protein.|NCI|N|
C5670714|A change in the amino acid residue at position 409 in the Krueppel-like factor 4 protein where lysine has been replaced by glutamine.|NCI|N|
C5670716|A nucleotide substitution at position 364 of the coding sequence of the HBB gene where guanine has been mutated to cytosine.|NCI|N|
C5670717|A change in the amino acid residue at position 122 in the hemoglobin subunit beta protein where glutamic acid has been replaced by glutamine.|NCI|N|
C5670723|Clinical signs and symptoms resulting from aberrant mast cell mediator release. These are episodic and involve two or more organ systems, including: dermatologic: urticaria, angioedema, and flushing; gastrointestinal: nausea, vomiting, diarrhea, and cramping; cardiovascular: hypotension, syncope, and tachycardia; respiratory: wheezing; naso-ocular: nasal congestion and conjunctival injection; immunologic: recurrent anaphylaxis.|NCI|N|
C5670724|Acute myeloid leukemia not associated with cytogenetic abnormalities and arising as a result of the mutagenic effect of chemotherapy and/or ionizing radiation.|NCI|N|
C5670725|Aggressive systemic mastocytosis associated with a germ cell tumor.|NCI|N|
C5670726|A disorder characterized by systemic infiltration of internal organs by aggregates of neoplastic mast cells and the presence of a co-occurring germ cell tumor.|NCI|N|
C5670732|An alteration in the normal functioning of the anus and rectum.|NCI|N|
C5670752|A molecular abnormality indicating rearrangement of the ABI1 gene.|NCI|N|
C5670753|A molecular abnormality indicating rearrangement of the ACSL6 gene.|NCI|N|
C5670754|A molecular abnormality indicating rearrangement of the AFDN gene.|NCI|N|
C5670755|A molecular abnormality indicating rearrangement of the AFF1 gene.|NCI|N|
C5670756|A molecular abnormality indicating rearrangement of the AFF4 gene.|NCI|N|
C5670757|A molecular abnormality indicating rearrangement of the ARHGAP26 gene.|NCI|N|
C5670758|A molecular abnormality indicating rearrangement of the ARHGEF12 gene.|NCI|N|
C5670759|A molecular abnormality indicating rearrangement of the ARID1A gene.|NCI|N|
C5670760|A molecular abnormality indicating rearrangement of the ARNT gene.|NCI|N|
C5670761|A molecular abnormality indicating rearrangement of the ASXL1 gene.|NCI|N|
C5670762|A molecular abnormality indicating rearrangement of the ATF1 gene.|NCI|N|
C5670763|A molecular abnormality indicating rearrangement of the ATG5 gene.|NCI|N|
C5670764|A molecular abnormality indicating rearrangement of the ATIC gene.|NCI|N|
C5670765|A molecular abnormality indicating rearrangement of the BCL10 gene.|NCI|N|
C5670766|A molecular abnormality indicating rearrangement of the BCL11A gene.|NCI|N|
C5670767|A molecular abnormality indicating rearrangement of the BCL11B gene.|NCI|N|
C5670768|A molecular abnormality indicating rearrangement of the BCL3 gene.|NCI|N|
C5670769|A molecular abnormality indicating rearrangement of the BCL7A gene.|NCI|N|
C5670770|A molecular abnormality indicating rearrangement of the BCL9 gene.|NCI|N|
C5670771|A molecular abnormality indicating rearrangement of the BCR gene.|NCI|N|
C5670772|A molecular abnormality indicating rearrangement of the BIRC3 gene.|NCI|N|
C5670773|A molecular abnormality indicating rearrangement of the BRCA1 gene.|NCI|N|
C5670774|A molecular abnormality indicating rearrangement of the BRCA2 gene.|NCI|N|
C5670775|A molecular abnormality indicating rearrangement of the BRD4 gene.|NCI|N|
C5670776|A molecular abnormality indicating rearrangement of the BTG1 gene.|NCI|N|
C5670777|A molecular abnormality indicating rearrangement of the CAMTA1 gene.|NCI|N|
C5670778|A molecular abnormality indicating rearrangement of the CARS1 gene.|NCI|N|
C5670779|A molecular abnormality indicating rearrangement of the CBFA2T3 gene.|NCI|N|
C5670780|A molecular abnormality indicating rearrangement of the CBL gene.|NCI|N|
C5670781|A molecular abnormality indicating rearrangement of the CCND2 gene.|NCI|N|
C5670782|A molecular abnormality indicating rearrangement of the CCND3 gene.|NCI|N|
C5670783|A molecular abnormality indicating rearrangement of the CD274 gene.|NCI|N|
C5670784|A molecular abnormality indicating rearrangement of the CD74 gene.|NCI|N|
C5670785|A molecular abnormality indicating rearrangement of the CDK6 gene.|NCI|N|
C5670786|A molecular abnormality indicating rearrangement of the CDX2 gene.|NCI|N|
C5670787|A molecular abnormality indicating rearrangement of the CEP43 gene.|NCI|N|
C5670788|A molecular abnormality indicating rearrangement of the CHIC2 gene.|NCI|N|
C5670789|A molecular abnormality indicating rearrangement of the CIITA gene.|NCI|N|
C5670790|A molecular abnormality indicating rearrangement of the CLP1 gene.|NCI|N|
C5670791|A molecular abnormality indicating rearrangement of the CLTCL1 gene.|NCI|N|
C5670792|A molecular abnormality indicating rearrangement of the CNTRL gene.|NCI|N|
C5670793|A molecular abnormality indicating rearrangement of the COL1A1 gene.|NCI|N|
C5670794|A molecular abnormality indicating rearrangement of the CREB3L1 gene.|NCI|N|
C5670795|A molecular abnormality indicating rearrangement of the CREB3L2 gene.|NCI|N|
C5670796|A molecular abnormality indicating rearrangement of the CREBBP gene.|NCI|N|
C5670797|A molecular abnormality indicating rearrangement of the CSF1 gene.|NCI|N|
C5670798|A molecular abnormality indicating rearrangement of the CTNNB1 gene.|NCI|N|
C5670799|A molecular abnormality indicating rearrangement of the DDX10 gene.|NCI|N|
C5670800|A molecular abnormality indicating rearrangement of the DDX6 gene.|NCI|N|
C5670801|A molecular abnormality indicating rearrangement of the DEK gene.|NCI|N|
C5670802|A molecular abnormality indicating rearrangement of the EIF4A2 gene.|NCI|N|
C5670803|A molecular abnormality indicating rearrangement of the ELF4 gene.|NCI|N|
C5670804|A molecular abnormality indicating rearrangement of the ELL gene.|NCI|N|
C5670805|A molecular abnormality indicating rearrangement of the ELN gene.|NCI|N|
C5670806|A molecular abnormality indicating rearrangement of the EML4 gene.|NCI|N|
C5670807|A molecular abnormality indicating rearrangement of the EP300 gene.|NCI|N|
C5670808|A molecular abnormality indicating rearrangement of the EPOR gene.|NCI|N|
C5670809|A molecular abnormality indicating rearrangement of the ERBB2 gene.|NCI|N|
C5670810|A molecular abnormality indicating rearrangement of the ETV1 gene.|NCI|N|
C5670811|A molecular abnormality indicating rearrangement of the ETV4 gene.|NCI|N|
C5670812|A molecular abnormality indicating rearrangement of the ETV5 gene.|NCI|N|
C5670813|A molecular abnormality indicating rearrangement of the EZR gene.|NCI|N|
C5670814|A molecular abnormality indicating rearrangement of the FCGR2B gene.|NCI|N|
C5670815|A molecular abnormality indicating rearrangement of the FCRL4 gene.|NCI|N|
C5670816|A molecular abnormality indicating rearrangement of the FEV gene.|NCI|N|
C5670817|A molecular abnormality indicating rearrangement of the FLI1 gene.|NCI|N|
C5670818|A molecular abnormality indicating rearrangement of the FNBP1 gene.|NCI|N|
C5670819|A molecular abnormality indicating rearrangement of the FOXO3 gene.|NCI|N|
C5670820|A molecular abnormality indicating rearrangement of the FOXO4 gene.|NCI|N|
C5670821|A molecular abnormality indicating rearrangement of the FOXP1 gene.|NCI|N|
C5670822|A molecular abnormality indicating rearrangement of the FSTL3 gene.|NCI|N|
C5670823|A molecular abnormality indicating rearrangement of the GAS7 gene.|NCI|N|
C5670824|A molecular abnormality indicating rearrangement of the GLI1 gene.|NCI|N|
C5670825|A molecular abnormality indicating rearrangement of the GMPS gene.|NCI|N|
C5670826|A molecular abnormality indicating rearrangement of the GPHN gene.|NCI|N|
C5670827|A molecular abnormality indicating rearrangement of the H4C9 gene.|NCI|N|
C5670828|A molecular abnormality indicating rearrangement of the HERPUD1 gene.|NCI|N|
C5670829|A molecular abnormality indicating rearrangement of the HEY1 gene.|NCI|N|
C5670830|A molecular abnormality indicating rearrangement of the HIP1 gene.|NCI|N|
C5670831|A molecular abnormality indicating rearrangement of the HLF gene.|NCI|N|
C5670832|A molecular abnormality indicating rearrangement of the HOXA11 gene.|NCI|N|
C5670833|A molecular abnormality indicating rearrangement of the HOXA13 gene.|NCI|N|
C5670834|A molecular abnormality indicating rearrangement of the HOXA9 gene.|NCI|N|
C5670835|A molecular abnormality indicating rearrangement of the HOXC11 gene.|NCI|N|
C5670836|A molecular abnormality indicating rearrangement of the HOXC13 gene.|NCI|N|
C5670837|A molecular abnormality indicating rearrangement of the HOXD11 gene.|NCI|N|
C5670838|A molecular abnormality indicating rearrangement of the HOXD13 gene.|NCI|N|
C5670839|A molecular abnormality indicating rearrangement of the HSP90AA1 gene.|NCI|N|
C5670840|A molecular abnormality indicating rearrangement of the HSP90AB1 gene.|NCI|N|
C5670841|A molecular abnormality indicating rearrangement of the immunoglobulin kappa (IGK) gene locus.|NCI|N|
C5670842|A molecular abnormality indicating rearrangement of the immunoglobulin lambda (IGL) gene locus.|NCI|N|
C5670843|A molecular abnormality indicating rearrangement of the IKZF1 gene.|NCI|N|
C5670844|A molecular abnormality indicating rearrangement of the IL21R gene.|NCI|N|
C5670845|A molecular abnormality indicating rearrangement of the IL3 gene.|NCI|N|
C5670846|A molecular abnormality indicating rearrangement of the ITK gene.|NCI|N|
C5670847|A molecular abnormality indicating rearrangement of the JAK1 gene.|NCI|N|
C5670848|A molecular abnormality indicating rearrangement of the JAK3 gene.|NCI|N|
C5670849|A molecular abnormality indicating rearrangement of the JAZF1 gene.|NCI|N|
C5670850|A molecular abnormality indicating rearrangement of the KAT6A gene.|NCI|N|
C5670851|A molecular abnormality indicating rearrangement of the KIF5B gene.|NCI|N|
C5670852|A molecular abnormality indicating rearrangement of the KIT gene.|NCI|N|
C5670853|A molecular abnormality indicating rearrangement of the LASP1 gene.|NCI|N|
C5670854|A molecular abnormality indicating rearrangement of the LCP1 gene.|NCI|N|
C5670855|A molecular abnormality indicating rearrangement of the LMO1 gene.|NCI|N|
C5670856|A molecular abnormality indicating rearrangement of the LMO2 gene.|NCI|N|
C5670857|A molecular abnormality indicating rearrangement of the LPP gene.|NCI|N|
C5670858|A molecular abnormality indicating rearrangement of the MAF gene.|NCI|N|
C5670859|A molecular abnormality indicating rearrangement of the MAFB gene.|NCI|N|
C5670860|A molecular abnormality indicating rearrangement of the MALT1 gene.|NCI|N|
C5670861|A molecular abnormality indicating rearrangement of the MDS2 gene.|NCI|N|
C5670862|A molecular abnormality indicating rearrangement of the MECOM gene.|NCI|N|
C5670863|A molecular abnormality indicating rearrangement of the MLF1 gene.|NCI|N|
C5670864|A molecular abnormality indicating rearrangement of the MLLT1 gene.|NCI|N|
C5670865|A molecular abnormality indicating rearrangement of the MLLT10 gene.|NCI|N|
C5670866|A molecular abnormality indicating rearrangement of the MLLT3 gene.|NCI|N|
C5670867|A molecular abnormality indicating rearrangement of the MLLT6 gene.|NCI|N|
C5670868|A molecular abnormality indicating rearrangement of the MNX1 gene.|NCI|N|
C5670869|A molecular abnormality indicating rearrangement of the MRTFA gene.|NCI|N|
C5670870|A molecular abnormality indicating rearrangement of the MSH2 gene.|NCI|N|
C5670871|A molecular abnormality indicating rearrangement of the MSN gene.|NCI|N|
C5670872|A molecular abnormality indicating rearrangement of the MUC1 gene.|NCI|N|
C5670873|A molecular abnormality indicating rearrangement of the MYH11 gene.|NCI|N|
C5670874|A molecular abnormality indicating rearrangement of the NACA gene.|NCI|N|
C5670875|A molecular abnormality indicating rearrangement of the NBEAP1 gene.|NCI|N|
C5670876|A molecular abnormality indicating rearrangement of the NDRG1 gene.|NCI|N|
C5670877|A molecular abnormality indicating rearrangement of the NIN gene.|NCI|N|
C5670878|A molecular abnormality indicating rearrangement of the NOTCH1 gene.|NCI|N|
C5670879|A molecular abnormality indicating rearrangement of the NOTCH2 gene.|NCI|N|
C5670880|A molecular abnormality indicating rearrangement of the NPM1 gene.|NCI|N|
C5670881|A molecular abnormality indicating rearrangement of the NSD1 gene.|NCI|N|
C5670882|A molecular abnormality indicating rearrangement of the NSD2 gene.|NCI|N|
C5670883|A molecular abnormality indicating rearrangement of the NSD3 gene.|NCI|N|
C5670884|A molecular abnormality indicating rearrangement of the NUMA1 gene.|NCI|N|
C5670885|A molecular abnormality indicating rearrangement of the NUP214 gene.|NCI|N|
C5670886|A molecular abnormality indicating rearrangement of the NUTM2A gene.|NCI|N|
C5670887|A molecular abnormality indicating rearrangement of the OMD gene.|NCI|N|
C5670888|A molecular abnormality indicating rearrangement of the P2RY8 gene.|NCI|N|
C5670889|A molecular abnormality indicating rearrangement of the PAFAH1B2 gene.|NCI|N|
C5670890|A molecular abnormality indicating rearrangement of the PAX5 gene.|NCI|N|
C5670891|A molecular abnormality indicating rearrangement of the PAX7 gene.|NCI|N|
C5670892|A molecular abnormality indicating rearrangement of the PBX1 gene.|NCI|N|
C5670893|A molecular abnormality indicating rearrangement of the PCM1 gene.|NCI|N|
C5670894|A molecular abnormality indicating rearrangement of the PCSK7 gene.|NCI|N|
C5670895|A molecular abnormality indicating rearrangement of the PDCD1LG2 gene.|NCI|N|
C5670896|A molecular abnormality indicating rearrangement of the PDE4DIP gene.|NCI|N|
C5670897|A molecular abnormality indicating rearrangement of the PDGFB gene.|NCI|N|
C5670898|A molecular abnormality indicating rearrangement of the PER1 gene.|NCI|N|
C5670899|A molecular abnormality indicating rearrangement of the PICALM gene.|NCI|N|
C5670900|A molecular abnormality indicating rearrangement of the PIM1 gene.|NCI|N|
C5670901|A molecular abnormality indicating rearrangement of the PLAG1 gene.|NCI|N|
C5670902|A molecular abnormality indicating rearrangement of the PML gene.|NCI|N|
C5670903|A molecular abnormality indicating rearrangement of the POU2AF1 gene.|NCI|N|
C5670904|A molecular abnormality indicating rearrangement of the PPP1CB gene.|NCI|N|
C5670905|A molecular abnormality indicating rearrangement of the PRDM1 gene.|NCI|N|
C5670906|A molecular abnormality indicating rearrangement of the PRDM16 gene.|NCI|N|
C5670907|A molecular abnormality indicating rearrangement of the PRRX1 gene.|NCI|N|
C5670908|A molecular abnormality indicating rearrangement of the PTCH1 gene.|NCI|N|
C5670909|A molecular abnormality indicating rearrangement of the RABEP1 gene.|NCI|N|
C5670910|A molecular abnormality indicating rearrangement of the RAF1 gene.|NCI|N|
C5670911|A molecular abnormality indicating rearrangement of the RALGDS gene.|NCI|N|
C5670912|A molecular abnormality indicating rearrangement of the RAP1GDS1 gene.|NCI|N|
C5670913|A molecular abnormality indicating rearrangement of the RBM15 gene.|NCI|N|
C5670914|A molecular abnormality indicating rearrangement of the RHOH gene.|NCI|N|
C5670915|A molecular abnormality indicating rearrangement of the RNF213 gene.|NCI|N|
C5670916|A molecular abnormality indicating rearrangement of the RNF217-AS1 gene.|NCI|N|
C5670917|A molecular abnormality indicating rearrangement of the RPL22 gene.|NCI|N|
C5670918|A molecular abnormality indicating rearrangement of the RPN1 gene.|NCI|N|
C5670919|A molecular abnormality indicating rearrangement of the RSPO2 gene.|NCI|N|
C5670920|A molecular abnormality indicating rearrangement of the RUNX1 gene.|NCI|N|
C5670921|A molecular abnormality indicating rearrangement of the RUNX1T1 gene.|NCI|N|
C5670922|A molecular abnormality indicating rearrangement of the RUNX2 gene.|NCI|N|
C5670923|A molecular abnormality indicating rearrangement of the SDC4 gene.|NCI|N|
C5670924|A molecular abnormality indicating rearrangement of the SEC31A gene.|NCI|N|
C5670925|A molecular abnormality indicating rearrangement of the SEPTIN6 gene.|NCI|N|
C5670926|A molecular abnormality indicating rearrangement of the SET gene.|NCI|N|
C5670927|A molecular abnormality indicating rearrangement of the SH3GL1 gene.|NCI|N|
C5670928|A molecular abnormality indicating rearrangement of the SLC1A2 gene.|NCI|N|
C5670929|A molecular abnormality indicating rearrangement of the SLC34A2 gene.|NCI|N|
C5670930|A molecular abnormality indicating rearrangement of the SRSF3 gene.|NCI|N|
C5670931|A molecular abnormality indicating rearrangement of the SSX1 gene.|NCI|N|
C5670932|A molecular abnormality indicating rearrangement of the SSX2 gene.|NCI|N|
C5670933|A molecular abnormality indicating rearrangement of the SSX4 gene.|NCI|N|
C5670934|A molecular abnormality indicating rearrangement of the STAT6 gene.|NCI|N|
C5670935|A molecular abnormality indicating rearrangement of the SYK gene.|NCI|N|
C5670936|A molecular abnormality indicating rearrangement of the TAF15 gene.|NCI|N|
C5670937|A molecular abnormality indicating rearrangement of the TAL1 gene.|NCI|N|
C5670938|A molecular abnormality indicating rearrangement of the TAL2 gene.|NCI|N|
C5670939|A molecular abnormality indicating rearrangement of the TBL1XR1 gene.|NCI|N|
C5670940|A molecular abnormality indicating rearrangement of the TCF3 gene.|NCI|N|
C5670941|A molecular abnormality indicating rearrangement of the TERT gene.|NCI|N|
C5670942|A molecular abnormality indicating rearrangement of the TET1 gene.|NCI|N|
C5670943|A molecular abnormality indicating rearrangement of the TFG gene.|NCI|N|
C5670944|A molecular abnormality indicating rearrangement of the TFPT gene.|NCI|N|
C5670945|A molecular abnormality indicating rearrangement of the TLX1 gene.|NCI|N|
C5670946|A molecular abnormality indicating rearrangement of the TLX3 gene.|NCI|N|
C5670947|A molecular abnormality indicating rearrangement of the TMPRSS2 gene.|NCI|N|
C5670948|A molecular abnormality indicating rearrangement of the TNFRSF11A gene.|NCI|N|
C5670949|A molecular abnormality indicating rearrangement of the TOP1 gene.|NCI|N|
C5670950|A molecular abnormality indicating rearrangement of the TPM4 gene.|NCI|N|
C5670951|A molecular abnormality indicating rearrangement of the TRIM24 gene.|NCI|N|
C5670952|A molecular abnormality indicating rearrangement of the TRIP11 gene.|NCI|N|
C5670953|A molecular abnormality indicating rearrangement of the TTL gene.|NCI|N|
C5670954|A molecular abnormality indicating rearrangement of the TYK2 gene.|NCI|N|
C5670955|A molecular abnormality indicating rearrangement of the YPEL5 gene.|NCI|N|
C5670956|A molecular abnormality indicating rearrangement of the ZMYM2 gene.|NCI|N|
C5670957|A molecular abnormality indicating rearrangement of the ZNF384 gene.|NCI|N|
C5670958|A molecular abnormality indicating rearrangement of the ZNF521 gene.|NCI|N|
C5670968|A lymphoma that arises in the context of autoimmune lymphoproliferative syndrome.|NCI|N|
C5670969|A benign, intermediate, or malignant circumscribed or diffuse neoplasm that arises from melanocytes in the leptomeninges. It includes meningeal melanocytoma, meningeal melanoma, meningeal melanocytoma of intermediate grade, and meningeal melanocytosis.|NCI|N|
C5670975|A lymphoproliferative disorder that develops in patients who are immunosuppressed with methotrexate. This disorder is often Epstein-Barr virus positive, and morphologically it may resemble large B-cell non-Hodgkin lymphoma, Hodgkin lymphoma, or a polymorphous post-transplant lymphoproliferative disorder. (WHO, 2001)|NCI|N|
C5670976|A Burkitt lymphoma that develops in patients who are immunosuppressed with methotrexate.|NCI|N|
C5670993|A molecular abnormality indicating rearrangement of the TCL1A gene.|NCI|N|
C5670994|A molecular abnormality indicating rearrangement of the ZBTB16 gene.|NCI|N|
C5670995|A glioblastoma characterized by the presence of large numbers of neoplastic cells with granular, PAS-positive cytoplasm. It is associated with an aggressive clinical course.|NCI|N|
C5670997|Vulvar squamous cell carcinoma that is resistant to treatment.|NCI|N|
C5671004|A response indicating that an individual''s health condition prevented them from having sexual activity.|NCI|N|
C5671008|An indication that the origin of the tumor is in the thalamic-peduncular area.|NCI|N|
C5671010|A partial or complete response to treatment.|NCI|N|
C5671013|A change in the nucleotide sequence of the HBG2 gene.|NCI|N|
C5671016|A radiographic finding indicating the area of interest is less than 50 percent.|NCI|N|
C5671027|A circumscribed ependymoma that arises from the supratentorial region of the brain in which the genetic analysis for fusion genes involving ZFTA or YAP1 genes was unsuccessful or not reported.|NCI|N|
C5671032|A canine neoplasm that is confined to the primary site, with systemic symptoms.|NCI|N|
C5671035|A molecular abnormality indicating the presence of an abnormally high level of the forkhead box protein R2 (FOXR2) protein.|NCI|N|
C5671037|Deregulation of the RB1 cell cycle pathway leads to unregulated DNA replication and cell proliferation, which is usually associated with activating mutations in cyclin-dependent kinase genes or inactivating mutations in either cyclin-dependent kinase inhibitor genes or the retinoblastoma gene.|NCI|N|
C5671041|Cervical carcinoma involving lower vagina, pelvic sidewall, and ureters. (FIGO 2009)|NCI|N|
C5671043|Epstein-Barr virus-associated lymphoproliferative disease with primary immunodeficiency that is resistant to treatment.|NCI|N|
C5671046|A change in the portion of the nucleotide sequence of the DICER1 gene that encodes the RNase IIIb domain (exons 24 and 25) and originates in somatic cells.|NCI|N|
C5671050|An indication that participants have or will be re-assigned by chance to arms of a clinical study.|NCI|N|
C5671057|A molecular abnormality indicating rearrangement of the CLTC gene.|NCI|N|
C5671058|A molecular abnormality indicating rearrangement of the EPS15 gene.|NCI|N|
C5671059|A molecular abnormality indicating rearrangement of the HOXA3 gene.|NCI|N|
C5671060|A molecular abnormality indicating rearrangement of the KDSR gene.|NCI|N|
C5671061|A molecular abnormality indicating rearrangement of the LYL1 gene.|NCI|N|
C5671062|A molecular abnormality indicating rearrangement of the MYH9 gene.|NCI|N|
C5671063|A molecular abnormality indicating rearrangement of the PTK7 gene.|NCI|N|
C5671064|A molecular abnormality indicating rearrangement of the SEPTIN5 gene.|NCI|N|
C5671068|Flattening or spreading out of epithelial cells to cover spatial defects.|NCI|N|
C5671071|More than the usual or expected number of hemivertebra.|NCI|N|
C5671118|The presence of autoantibodies (immunoglobulins) in the serum that react against insulin.|HPO|N|
C5671282|A rare neurologic disease characterised by lethargy, hypotonia, poor feeding, opisthotonus and a typical high-pitched cry due to bilirubin accumulation in the globus pallidus, sub-thalamic nuclei, and other brain regions, resulting from severe neonatal unconjugated hyperbilirubinaemia. Onset of symptoms is typically within the first three to five days of life. Additional features include fever, apnoea, seizures and coma. Respiratory failure or refractory seizures may lead to a fatal outcome.|SNOMEDCT_US|N|
C5671283|Benign familial neonatal-infantile seizures (BFNIS) is a benign familial epilepsy syndrome with an intermediate phenotype between benign familial neonatal seizures (BFNS) and benign familial infantile seizures (BFIS). Age of onset in these BFNIS families varied from 2 days to 6 months, with spontaneous resolution in most cases before the age of 12 months. Like BFNS and BFIS, seizures in BFNIS generally occur in clusters over one or a few days with posterior focal seizure onset. BFNIS is caused by mutations in the SCN2A gene (2q24.3), encoding the voltage-gated sodium channel alpha-subunit Na(V)1.2. Transmission is autosomal dominant.|SNOMEDCT_US|N|
C5671326|Congenital neurodevelopmental diseases characterized by abnormal eye, eyelid, and facial movements. Congenital cranial dysinnervation disorders (CCDDs) are caused by abnormal innervation of CRANIAL NERVES (e.g., CNs III, IV and VI) resulting in aplasia or hypoplasia of the ocular and facial musculature involved in EYE MOVEMENTS.|MSH|N|
C5671327|Congenitally uncorrected transposition of the great arteries (congenitally uncorrected TGA), also referred to as complete transposition, is a congenital cardiac malformation characterized by atrioventricular concordance and ventriculoarterial (VA) discordance.|ORDO|N|
C5671328|A group of anomalies in which the UTERUS is duplicated due to abnormal fusion of the MULLERIAN DUCT during embryonic development.|MSH|N|
C5675009|Autosomal dominant form of limb-girdle muscular dystrophy.|MONDO|N|
C5676595|Abnormal waveforms the Doppler sonographic examination of bloodflow in the umbilical artery. vUmbilical arterial Doppler assessment is used in surveillance of fetal health in the third trimester.|HPO|N|
C5676596|Decreased concentration of homovanillic acid (HVA) in the cerebrospinal fluid. HVA is a metabolite of dopamine.|HPO|N|
C5676597|Tracheal cartilaginous sleeve (TCS) is a rare congenital airway malformation in which distinct tracheal rings are replaced by a continuous cartilaginous segment. Vertically fused C- or O-shaped cartilaginous rings can extend from the subglottis to the carina or bronchus with little to no pars membranacea posteriorly. Comment:Tracheal cartilaginous sleeve has been associated with various craniosynostosis syndromes.|HPO|N|
C5676598|An abnormality of the antitragus, which is a small tubercle opposite to the tragus of the ear. The antitragus and the tragus are separated by the intertragic notch.|HPO|N|
C5676599|An abnormal amount of urinary catecholamine concentration.|HPO|N|
C5676600|Abnormal amount of urate in the urine.|HPO|N|
C5676601|Abnormal placental adhesion is characterized by an anomalous adherence of the placenta to the uterine wall. Based on the degree of adhesion, placental invasion can be classified into accreta, increta, or percreta.|HPO|N|
C5676602|Sonographic detection of a double bubble sign in the upper abdomen is strongly indicative of duodenal obstruction. One bubble represents fetal stomach, and the other is attributed to a dilated proximal part of the duodenum; continuity between both bubbles is required for the sign.|HPO|N|
C5676604|A reduction in the level of the enzyme creatine kinase (also known as creatine phosphokinase (CK; EC 2.7.3.2) in the blood.|HPO|N|
C5676605|An anomalous structural finding of the fetal skeleton. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other terms from the skeletal hierarchy can also be used to describe fetal phenotypes.|HPO|N|
C5676606|This ratio relates the length of the fetal femur to that of the fetal foot. The ratio is approximately 1 throughout the age range of 14 to 40 weeks of gestation. A substantial reduction in the raio can help differentiate fetuses that have dysplastic limb reduction from those whose limbs are short because of constitutional factors or IUGR. It can reduce the problem of an unknown gestational age and help to distinguish between fetal skeletal dysplasia and intrauterine growth retardation caused by other factors.|HPO|N|
C5676607|Birth before 28 completed weeks of gestation (up to and including 27 weeks and 6 days of gestation).|HPO|N|
C5676608|A structural anomaly in the fetal neck region. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes.|HPO|N|
C5676609|Any structural anomaly of the neck region.|HPO|N|
C5676610|Any functional anomaly of the neck region.|HPO|N|
C5676611|A separation of skin in one or more regions of the body or even along the entire length of body wall (to a degree greater than gestational-age related norms) related to pathologically increased fluid accumulation in the subcutaneous tissue.|HPO|N|
C5676612|A type of ascites (peritoneal fluid collection) that is divided into loculi (compartments) by septa (fibrous walls). Ascites fluid can become loculated when confined by adhesions, malignancy or infection.|HPO|N|
C5676613|A meconium-containing cyst in the peritoneal space . Meconium pseudocysts form in the presence of meconium peritonitis, which is defined as a sterile peritonitis caused by escape of meconium from the intestinal tract into the general peritoneal cavity during the fetal or perinatal period. When the extruded meconium becomes walled off, it can form a rim-calcified mass representing the meconium pseudocyst.|HPO|N|
C5676614|The presence of chyle (a type of lipid-rich lymph) in the pleural space (the space surrounding the lung) as observed in a fetus.|HPO|N|
C5676615|Accumulation of lymphatic fluid in the pleural space. This finding is usually observed by prenatal sonography. Once neonatal feeding is established and the lymphatic fluid contains chyle, transformation to chylothorax may be observed.|HPO|N|
C5676616|Compound muscle action potential amplitude (CMAP) facilitation denotes an increase in tendon reflexes, strength, or CMAP amplitude after 10 seconds of maximal voluntary contraction.|HPO|N|
C5676617|Abnormally reduced diameter (cross section) of the clavicles that is limited to the distal region.|HPO|N|
C5676618|Any deviation from the normal concentration of amyloid beta 42 peptide in the cerebrospinal fluid (CSF). Amyloid beta is a peptide of 36-43 amino acids that is processed from the Amyloid precursor protein. ABeta42, which is 42 amino acids in length, is the longer form.|HPO|N|
C5676619|A reduction from the normal concentration of amyloid beta 42 peptide in the cerebrospinal fluid (CSF).|HPO|N|
C5676620|An elevation above the normal concentration of amyloid beta 42 peptide in the cerebrospinal fluid (CSF).|HPO|N|
C5676621|Any deviation from the normal concentration of amyloid beta 42 peptide in the cerebrospinal fluid (CSF). Amyloid beta is a peptide of 36-43 amino acids that is processed from the Amyloid precursor protein. ABeta40, which is 40 amino acids in length, is the shorter form.|HPO|N|
C5676622|An elevation above the normal concentration of amyloid beta 40 peptide in the cerebrospinal fluid (CSF).|HPO|N|
C5676623|Any anomaly in the concentration of a cleaved APP amyloid beta protein fragment in the cerebrospinal fluid.|HPO|N|
C5676624|Focal dilatation of the extra-abdominal portion of the umbilical vein. An extra-abdominal umbilical varix is difficult to diagnose prenatally as it can appear like a cyst on ultrasound prior to birth.|HPO|N|
C5676625|Fetal intra-abdominal umbilical vein varix (FIUVV) is defined by the focal dilatation of the fetal umbilical vein between its entry in the abdomen and its ending in the portal system. The dilatation can be defined using one of the following criteria|HPO|N|
C5676626|A replicate of airways from accumulated and condensed mucous and cellular material. These semisolid occlusions take the shape of the airway within they are formed, leading to obstruction of the tracheobronchial tree with consecutive respiratory insufficiency. Based on their principal composition, one can differentiate fibrin casts and mucin casts. Plastic bronchitis is the name of the condition characterized by the formation of airway casts.|HPO|N|
C5676627|A type of airway casts that consist of impacted mucus.|HPO|N|
C5676628|18F-fluorodeoxyglucose (FDG) positron emission tomography and computed tomography (FDG-PET/CT) evaluates the glucose metabolism of the brain. FDG uptake is interpreted to represent glycolysis. This term therefore represents an abnormally increased FDG uptake (increased glucose metabolism) in the region of the brain that surrounds the Sylvian fissure.|HPO|N|
C5676629|The jugular lymphatic sacs (JLS) are a physiological and temporary part of fetal lymphatic development. They are formed from small buds of lymphatic endothelial cells arising from the internal jugular veins. By 14 weeks gestation they have developed into lymphatic nodes which drain into the systemic circulation. Visibility of JLS on ultrasound past 14 weeks of gestation implies distension and this may be associated with raised nuchal translucency.|HPO|N|
C5676630|A type of Schizencephaly in which there is a trans-mantle column of abnormal gray matter but no evidence of a CSF-containing cleft on MR imaging.|HPO|N|
C5676631|A type of Schizencephaly in which CSF-containing cleft is present with abutting lining lips of abnormal gray matter that are opposed to each other.|HPO|N|
C5676632|A type of Schizencephaly in which CSF-containing cleft present with non-abutting lining lips of abnormal gray matter.|HPO|N|
C5676633|Abnormal appearance or non-visualization (apparent absence) of the nasal bone of a fetus in first trimester sonographic screening. Assessment of the fetal nasal bone is generally performed at 11-14 weeks gestational age.|HPO|N|
C5676634|Length of the nasal bone below a predetermined cut-off as seen on antenatal ultrasound using standard imaging techniques.|HPO|N|
C5676638|Persistence separation of the chorionic and amnionic membranes after the 16th week of gestation (not as a result of a procedure such as amniocentesis).|HPO|N|
C5676639|An infarct located on the outer layer of the cerebrum that can only be observed microscopically. Cerebral microinfarcts are typically defined as sharply delimited microscopic regions of cellular death or tissue necrosis, sometimes with cavitation (that is, a central fluid-filled cavity). The term microscopic denotes that these lesions are not visible by gross inspection of the brain but seen by light microscopy. The term infarct is most commonly used for ischemia-related tissue loss, and indeed the pathologic appearance of microinfarcts is consistent with that of known ischemic infarctions.|HPO|N|
C5676640|Abnormal accumulation of autophagosomes in skeletal muscle tissue.|HPO|N|
C5676641|An increased echo intensity of muscle tissue on sonography, defined as an increased amount of returning echoes per square area of muscle tissue. On cross-section, normal muscle appears as a relatively anechoic structure with hyperechoic speckles within the tissue representing perimysial septa, giving it a starry night appearance. The boundaries of each muscle are delineated by the presence of hyperechoic fascia. In muscle disorders, one of the hallmark findings is replacement of healthy muscle with fat and fibrosis, manifested by an increase in echogenicity from higher sound transitions in the muscle. This increase in echogenicity is most distinct in conditions that lead to chronic pathology, such as long-standing muscle inflammation, dystrophy, or denervation.|HPO|N|
C5676642|Gross findings of maternal vascular malperfusion include placental hypoplasia, placental infarction, and retroplacental hemorrhage. If information is available, it is preferable to annotate using the HPO terms that corresponding to the specific abnormalities.|HPO|N|
C5676643|Limited mobility of the eye to move from side to side (horizontally) within its socket.|HPO|N|
C5676644|Limited mobility of the eye to move up and down (vertically) within its socket.|HPO|N|
C5676645|Any structural anomaly of the skin of the fetus or newborn. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes.|HPO|N|
C5676646|Vernix caseosa is a physiological, viscous biofilm that is produced by desquamated fetal skin and sebaceous glands covering the fetus at the third trimester in-utero. The substance's gross morphology in post-partum is described by the etymology, as vernix means varnish, and caseosa means cheesy-like matter. This finding refers to an abnormally thick and greasy vernix caseosa-like scale present at birth.|HPO|N|
C5676647|Pseudocysts that lack an epithelial lining, PVPCs are frequently observed in the caudothalamic groove or in the infero-lateral aspect of the frontal horns of the lateral ventricles, but may also be located elsewhere along the periventricular germinal matrix, as in the temporal or occipital horns.|HPO|N|
C5676648|A reduction in the concentration of bile acid in the blood.|HPO|N|
C5676649|A reduced concentration of chenodeoxycholic acid in the blood circulation.|HPO|N|
C5676650|An increased amount of prostaglandin E2 metabolite (PGE-M) in the urine.|HPO|N|
C5676651|Underdevelopment of the frontal part (anterior crus or anterior limb) of the internal capsule.|HPO|N|
C5676652|Difficulty or reduced ability to walk on toes. Toe-walking can be tested as a part of the neurological examination. Foot plantar flexion weakness leads to difficulties in walking on toes.|HPO|N|
C5676654|Probst bundles (also known as longitudinal callosal fascicles) are neuroanatomical homologues to the corpus callosum and can occur in association with callosal agenesis. Probst bundles are white matter fibers that normally cross the corpus callosum but (because of the agenesis of the corpus callosum) fail to cross the midline, such that when they reach the corticoseptal boundary, they turn and run parallel to the interhemispheric fissure within the septal leaves, indenting the medial walls of the lateral ventricles.|HPO|N|
C5676655|The presence of autoantibodies (immunoglobulins) in the serum that react against cytochrome P450 cholesterol side-chain cleavage enzyme (P450scc), which is encoded by CYP11A1 cytochrome P450 family 11 subfamily A member 1 (Gene ID:1583).|HPO|N|
C5676656|An increased amount of calprotectin in the feces.|HPO|N|
C5676657|Any structural anomaly of the fetus.|HPO|N|
C5676658|Any functional anomaly of the fetus.|HPO|N|
C5676660|The presence of autoantibodies (immunoglobulins) in the serum that react against steroid 17alpha-hydroxylase.|HPO|N|
C5676661|The presence of autoantibodies (immunoglobulins) in the serum that react against salivary protein.|HPO|N|
C5676662|The presence of autoantibodies (immunoglobulins) in the serum that react against zinc transporter 8.|HPO|N|
C5676663|The presence of autoantibodies (immunoglobulins) in the serum that react against carbonic anhydrase VI.|HPO|N|
C5676664|Formation of lumps of tonofilaments, which are bundles of keratin filaments. In some but not all epithelia, keratin filaments are conspicuously bundled as tonofilaments. Inside the cell they braid the nucleus, span through the cytoplasm and are attached to the cytoplasmic plaques of the typical epithelial cell-cell junctions, the desmosomes.|HPO|N|
C5676665|The presence of autoantibodies (immunoglobulins) in the serum that react against plasminogen binding peptide.|HPO|N|
C5676666|The presence of autoantibodies (immunoglobulins) in the serum that react against parotid secretory protein.|HPO|N|
C5676667|The presence of autoantibodies (immunoglobulins) in the serum that react against enterocytes.|HPO|N|
C5676668|The presence of autoantibodies (immunoglobulins) in the serum that react against 21-hydroxylase.|HPO|N|
C5676669|Any deviation from the normal appearing echogenicity of the fetal bone. Echogenicity refers to the ability of tissue to reflect ultrasound waves back toward the transducer and produce an echo. Whenever there is an interface of structures with different echogenicities, a visible difference in contrast will be apparent on the screen. The higher the echogenicity of tissues, the brighter they appear on ultrasound imaging.|HPO|N|
C5676670|An abnormally decreased echogenicity of fetal long bones in a prenatal sonographic investigation. Ths finding is due to hypomineralization and can be seen in some disorders such as hypophosphatasia, osteogenesis imperfecta, and achondrogenesis.|HPO|N|
C5676671|Reduced circulating level of apolipoprotein B, which is the main apolipoprotein of chylomicrons and low density lipoproteins. It occurs in plasma as two main isoforms, apoB-48 and apoB-100.|HPO|N|
C5676672|The presence of autoantibodies (immunoglobulins) in the blood circulation that react against ribosome Po.|HPO|N|
C5676673|The presence of autoantibodies (immunoglobulins) in the blood circulation that react against C1q.|HPO|N|
C5676674|The presence of autoantibodies (immunoglobulins) in the blood circulation that react against CENP-A.|HPO|N|
C5676675|The presence of autoantibodies (immunoglobulins) in the blood circulation that react against CENP-B.|HPO|N|
C5676676|The presence of autoantibodies (immunoglobulins) in the blood circulation that react against U3 RNP.|HPO|N|
C5676677|The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Th/To.|HPO|N|
C5676678|The presence of autoantibodies (immunoglobulins) in the blood circulation that react against bicaudal D2.|HPO|N|
C5676679|The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Nor90.|HPO|N|
C5676680|The presence of autoantibodies (immunoglobulins) in the blood circulation that react against phosphatidyl ethanolamine.|HPO|N|
C5676681|The presence of autoantibodies (immunoglobulins) in the blood circulation that react against PM-Scl100.|HPO|N|
C5676682|The presence of autoantibodies (immunoglobulins) in the blood circulation that react against PM-Scl75.|HPO|N|
C5676683|The presence of autoantibodies (immunoglobulins) in the blood circulation that react against U11/U12 RNP.|HPO|N|
C5676684|The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ku.|HPO|N|
C5676685|The presence of autoantibodies (immunoglobulins) in the blood circulation that react against B23.|HPO|N|
C5676686|The presence of autoantibodies (immunoglobulins) in the blood circulation that react against RuvBL1/2.|HPO|N|
C5676687|The presence of autoantibodies (immunoglobulins) in the blood circulation that react against platelet derived growth factor receptor.|HPO|N|
C5676688|The presence of autoantibodies (immunoglobulins) in the blood circulation that react against cyclic citrullinated peptide.|HPO|N|
C5676689|The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ro52/TRIM21.|HPO|N|
C5676690|The presence of autoantibodies (immunoglobulins) in the blood circulation that react against angiotensin receptor type-1.|HPO|N|
C5676691|The presence of autoantibodies (immunoglobulins) in the blood circulation that react against endothelin-1 type A receptor.|HPO|N|
C5676692|The presence of autoantibodies (immunoglobulins) in the blood circulation that react against phosphatidic acid.|HPO|N|
C5676693|The presence of autoantibodies (immunoglobulins) in the blood circulation that react against phosphatidyl choline.|HPO|N|
C5676694|The presence of autoantibodies (immunoglobulins) in the blood circulation that react against phosphatidyl glycerol.|HPO|N|
C5676695|The presence of autoantibodies (immunoglobulins) in the blood circulation that react against phosphatidyl inositol.|HPO|N|
C5676696|The presence of autoantibodies (immunoglobulins) in the blood circulation that react against phosphatidyl serine.|HPO|N|
C5676697|The presence of autoantibodies (immunoglobulins) in the blood circulation that react against annexin-V.|HPO|N|
C5676698|The presence of autoantibodies (immunoglobulins) in the blood circulation that react against sphingolipids.|HPO|N|
C5676699|Ganglioside-monosialic acid (GM1) is a type of glycosphingolipid with one sialic acid. GM1 is located on the outer layer of the plasma membrane, and plays a vital role in neurogenesis, nerve development, differentiation and repair after injury|HPO|N|
C5676700|The presence of autoantibodies (immunoglobulins) in the blood circulation that react against neutrophil elastase.|HPO|N|
C5676701|The presence of autoantibodies (immunoglobulins) in the blood circulation that react against transcription intermediary factor-1gamma.|HPO|N|
C5676702|The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Su antigen/argonaute 2.|HPO|N|
C5676703|The presence of autoantibodies (immunoglobulins) in the blood circulation that react against p53.|HPO|N|
C5676704|The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Y-box protein-1.|HPO|N|
C5676705|The presence of autoantibodies (immunoglobulins) in the blood circulation that react against GW182.|HPO|N|
C5676706|The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ge-1.|HPO|N|
C5676707|The presence of autoantibodies (immunoglobulins) in the blood circulation that react against MIT3.|HPO|N|
C5676708|The presence of IgG autoantibodies (immunoglobulins) in the blood circulation that react against GM1.|HPO|N|
C5676710|The presence of autoantibodies (immunoglobulins) in the blood circulation that react against hexokinase-1.|HPO|N|
C5676711|The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Kelch like protein 12.|HPO|N|
C5676713|The presence of autoantibodies (immunoglobulins) in the blood circulation that react against angiotensin-converting enzyme 2.|HPO|N|
C5676714|The presence of IgM autoantibodies (immunoglobulins) in the blood circulation that react against GM1.|HPO|N|
C5676715|The presence of IgG autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside D1a.|HPO|N|
C5676716|The presence of IgM autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside D1a.|HPO|N|
C5676717|The presence of autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside D1a.|HPO|N|
C5676718|The presence of autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside Q1b.|HPO|N|
C5676719|The presence of IgM autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside Q1b.|HPO|N|
C5676720|The presence of autoantibodies (immunoglobulins) in the blood circulation that react against GD1b ganglioside.|HPO|N|
C5676721|The presence of IgM autoantibodies (immunoglobulins) in the blood circulation that react against GD1b ganglioside.|HPO|N|
C5676722|The presence of IgG autoantibodies (immunoglobulins) in the blood circulation that react against GD1b ganglioside.|HPO|N|
C5676723|The presence of IgG autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside Q1b.|HPO|N|
C5676724|The presence of autoantibodies (immunoglobulins) in the blood circulation that react against T1a ganglioside.|HPO|N|
C5676725|The presence of IgM autoantibodies (immunoglobulins) in the blood circulation that react against T1a ganglioside.|HPO|N|
C5676726|The presence of IgG autoantibodies (immunoglobulins) in the blood circulation that react against T1a ganglioside.|HPO|N|
C5676727|The presence of autoantibodies (immunoglobulins) in the blood circulation that react against T1b ganglioside.|HPO|N|
C5676728|The presence of autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside GM2.|HPO|N|
C5676729|The presence of autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside GM3.|HPO|N|
C5676730|The presence of autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside GM4.|HPO|N|
C5676731|The presence of autoantibodies (immunoglobulins) in the blood circulation that react against NF155.|HPO|N|
C5676732|The presence of autoantibodies (immunoglobulins) in the blood circulation that react against NF186.|HPO|N|
C5676733|The presence of autoantibodies (immunoglobulins) in the blood circulation that react against CNTN1.|HPO|N|
C5676734|The presence of autoantibodies (immunoglobulins) in the blood circulation that react against anti-contactin-associated protein 1.|HPO|N|
C5676735|The presence of autoantibodies (immunoglobulins) in the blood circulation that react against SAE.|HPO|N|
C5676736|The presence of autoantibodies (immunoglobulins) in the blood circulation that react against SAE 1.|HPO|N|
C5676737|The presence of autoantibodies (immunoglobulins) in the blood circulation that react against SAE 2.|HPO|N|
C5676738|The presence of autoantibodies (immunoglobulins) in the blood circulation that react against NXP-2.|HPO|N|
C5676739|The presence of autoantibodies (immunoglobulins) in the blood circulation that react against threonyl-tRNA synthetase.|HPO|N|
C5676740|The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ro60.|HPO|N|
C5676741|The presence of autoantibodies (immunoglobulins) in the blood circulation that react against alanyl-tRNA synthetase.|HPO|N|
C5676742|The presence of autoantibodies (immunoglobulins) in the blood circulation that react against glycyl tRNA-synthetase.|HPO|N|
C5676743|The presence of autoantibodies (immunoglobulins) in the blood circulation that react against a tRNA synthetase enzyme.|HPO|N|
C5676744|The presence of autoantibodies (immunoglobulins) in the blood circulation that react against isoleucyl tRNA-synthetase.|HPO|N|
C5676745|The presence of autoantibodies (immunoglobulins) in the blood circulation that react against phenylalanyl tRNA synthetase.|HPO|N|
C5676746|The presence of autoantibodies (immunoglobulins) in the blood circulation that react against tyrosyl-tRNA synthetase.|HPO|N|
C5676747|The presence of autoantibodies (immunoglobulins) in the blood circulation that react against asparaginyl-tRNA synthetase.|HPO|N|
C5676748|The presence of autoantibodies (immunoglobulins) in the blood circulation that react against histidyl tRNA synthetase.|HPO|N|
C5676749|The presence of autoantibodies (immunoglobulins) in the blood circulation that react against cytosolic-5-nucleotidase-1A (cN1A).|HPO|N|
C5676750|The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ki.|HPO|N|
C5676751|The presence of autoantibodies (immunoglobulins) in the serum that react against sp100. Autoantibodies causing the MND pattern are directed against sp100, sp140, promyelocytic leukemia nuclear body proteins (PML) or ubiquitin-like modifier (SUMO) proteins, while in the punctate nuclear envelope pattern, the target antigens are gp210, nucleoporin-62 or laminin B receptor proteins.|HPO|N|
C5676752|Presence of IgG antibodies against beta 2 glycoprotein I in the circulation. Beta-2 glycoprotein I (beta2GPI) is the principal target of autoantibodies in the antiphospholipid syndrome.|HPO|N|
C5676753|Presence of IgM antibodies against beta 2 glycoprotein I in the circulation. Beta-2 glycoprotein I (beta2GPI) is the principal target of autoantibodies in the antiphospholipid syndrome.|HPO|N|
C5676754|The presence of autoantibodies (immunoglobulins) in the serum that react against the tyrosine phossphatase region of islet antigen 2A (this region is a specific part of IA-2). Usually IA-2A are measured using the intracellular portion of IA-2 (IA-2ic) made up of the protein tyrosine phosphatase (PTP) and juxtamembrane (JM) regions.|HPO|N|
C5676755|Any deviation from the normal range of the concentration of interleukin 9 in the blood circulation.|HPO|N|
C5676756|An abnormally decreased concentration of interleukin 9 in the blood circulation.|HPO|N|
C5676757|Any deviation from the normal range of the concentration of interleukin 10 in the blood circulation.|HPO|N|
C5676758|An abnormally decreased concentration of interleukin 10 in the blood circulation.|HPO|N|
C5676759|Any deviation from the normal range of the concentration of interleukin 21 in the blood circulation.|HPO|N|
C5676760|An abnormally decreased concentration of interleukin 21 in the blood circulation.|HPO|N|
C5676761|An abnormally increased concentration of interleukin 21 in the blood circulation.|HPO|N|
C5676762|Any deviation from the normal range of the concentration of interleukin 22 in the blood circulation.|HPO|N|
C5676763|An abnormally decreased concentration of interleukin 22 in the blood circulation.|HPO|N|
C5676764|An abnormally increased concentration of interleukin 22 in the blood circulation.|HPO|N|
C5676765|Any deviation from the normal range of the concentration of interleukin 23 in the blood circulation.|HPO|N|
C5676766|An abnormally decreased concentration of interleukin 23 in the blood circulation.|HPO|N|
C5676767|An abnormally increased concentration of interleukin 23 in the blood circulation.|HPO|N|
C5676768|Any deviation from the normal range of the concentration of interleukin 27 in the blood circulation.|HPO|N|
C5676769|An abnormally decreased concentration of interleukin 27 in the blood circulation.|HPO|N|
C5676770|An abnormally increased concentration of interleukin 27 in the blood circulation.|HPO|N|
C5676771|Any deviation from the normal range of the concentration of interleukin 17A in the blood circulation.|HPO|N|
C5676772|An abnormally decreased concentration of interleukin 17A in the blood circulation.|HPO|N|
C5676773|An abnormally increased concentration of interleukin 17A in the blood circulation.|HPO|N|
C5676774|Abnormal joined appearance of the caudate and putamen with an absence of the anterior limb of the internal capsule.|HPO|N|
C5676775|Absence or underdevelopment of the liver.|HPO|N|
C5676776|Anatomically the liver is divided into right and left lobes based on the attachment of its peritoneal ligaments. This term refers to a developmental anomaly characterzied by the underdevelopment of one of the lobes of the liver. This is a rare and usually asymptomatic anomaly that can be detected incidentally on cross sectional imaging with computed tomography or magnetic resonance imaging.|HPO|N|
C5676777|Spastic weakness found in both lower extremities and one upper extremity.|HPO|N|
C5676778|An abnormally elevated concentration of insulin like growth factor binding protein acid labile subunit level in the blood circulation.|HPO|N|
C5676779|A developmental defect in a the clavicule leading to bending and pathologic fracture, with inability to form a normal bony callus with subsequent fibrous nonunion, leading to the pseudarthrosis (or false joint).|HPO|N|
C5676780|The presence of autoantibodies (immunoglobulins) in the serum that react against thyroid-stimulating hormone.|HPO|N|
C5676781|Abnormal functionality of the fetal cardiovascular system.|HPO|N|
C5676782|Increased peak systolic velocity of the fetal middle cerebral artery (MCA) as evaluated by Doppler ultrasound.|HPO|N|
C5676783|Cleavage within the suprabasal cell layer of the epidermis, which lies directly above the basal layer and is composed of five to ten layers of cells.|HPO|N|
C5676788|Any deviation from the normal concentration of homovanillic acid (HVA) in the cerebrospinal fluid. HVA is a metabolite of dopamine.|HPO|N|
C5676789|Elevated concentration of homovanillic acid (HVA) in the cerebrospinal fluid. HVA is a metabolite of dopamine.|HPO|N|
C5676791|An decreased level of iduronate-2-sulfatase activity in the blood circulation.|HPO|N|
C5676792|Decreased concentration of C1-esterase inhibitor (C1INH) in the blood circulation.|HPO|N|
C5676794|An anomalous structural finding of the fetal gastrointestinal system. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes.|HPO|N|
C5676795|Abnormal bleeding inside the skull (cranium) of a fetus.|HPO|N|
C5676796|A type of fetal intracranial hemorrhage located in the subependymal germinal matrix below the frontal horns of the lateral ventricles in the caudothalamic notch.|HPO|N|
C5676797|A type of fetal intracranial hemorrhage with bleeding into the ventricular system of the brain.|HPO|N|
C5676798|A type of fetal intracranial hemorrhage with bleeding into the parenchyma (tissue) of the brain.|HPO|N|
C5676799|A type of fetal intracranial hemorrhage with bleeding that occurs within the skull but outside of the brain tissue itself (into the epidural, subdural, or arachnoid space).|HPO|N|
C5676800|A type of fetal intracranial hemorrhage that occurs in the posterior cranial fossa, which is the part of the cranial cavity that is located between the foramen magnum and tentorium cerebelli and contains the brainstem and cerebellum.|HPO|N|
C5676801|A type of fetal intraventricular hemorrhage characterized by clear hemorrhage spillover to the ventricles filling less than 50% of the lateral ventricle and without ventriculomegaly of greater than 15 mm in the transverse diameter of the lateral ventricular atrium.|HPO|N|
C5676802|A type of fetal intracranial hemorrhage that occurs in the hemisphere of the cerebellum.|HPO|N|
C5676803|A type of fetal intracranial hemorrhage that occurs in the vermis of the cerebellum.|HPO|N|
C5676804|Inability to visualize the fetal bladder on targeted prenatal sonography examination. The fetal bladder can be visualized with sonography as a midline, fluid-filled structure in the pelvis as early as 10-12 weeks of gestation. The normal fetus voids at least once an hour but never completely empties the urinary bladder. The fetal bladdder should be consistently imaged after 13 weeks of gestation.|HPO|N|
C5676805|A type of fetal intraventricular hemorrhage (IVH) characterized by spillover to ventricles with flooding of 50% or more of one or both lateral ventricles accrued accompanying ventriculomegaly, but with no apparent brain parenchymal injury. This type of IVH may be defined as a diameter exceeding 15 mm in the transverse diameter of the lateral ventricular atrium as visualiuzed by prenatal sonography.|HPO|N|
C5676806|A type of fetal intraventricular hemorrhage that additionally includes hemorrhage in a large part of the periventricular parenchyma.|HPO|N|
C5676807|Expansion of the temporal lobes of the brain along all axes, including rostrocaudal, superoinferior, and mediolateral, resulting in a globular appearance of the brain.|HPO|N|
C5676808|A developmental defect of the temporal lobe of the cerebral cortex that is characterized by prominent sulcations and radially directed gyrations.|HPO|N|
C5676809|Human umbilical artery (UA) blood flow pulsatility measured by Doppler ultrasound is a widely used biomarker for the detection of elevated placental vascular resistance. Elevated UA pulsatility, which in the most extreme cases manifests as absent or even reversed end-diastolic velocity, is associated with intrauterine growth restriction (IUGR) and still-birth.|HPO|N|
C5676810|An anomaly that is visualized by umbilical artery Doppler velocimetry. Flow in the umbilical artery should be in the forward direction in normal circumstances. This anomaly is characterized by an absence of flow in the umbilical artery at the end of diastole.|HPO|N|
C5676811|An anomaly that is visualized by umbilical artery Doppler velocimetry. Flow in the umbilical artery should be in the forward direction in normal circumstances. This anomaly is characterized by an reversal of flow in the umbilical artery at the end of diastole (i.e., backwards flow).|HPO|N|
C5676812|Characteristic appearance of the chest and abdomen in the sagittal view on prenatal ultrasound when the chest is small and the abdomen protruding.|HPO|N|
C5676813|A type of aortic arch hypoplasia whereby the isthmus (arch between the left subclavian and insertion of the patent ductus arteriosus/ligamentum arteriosum) has a diameter of less than 40% of the diameter of the ascending aorta.|HPO|N|
C5676814|A type of aortic arch hypoplasia whereby the proximal aortic arch (arch proximal to the origin of the left subclavian artery) has a diameter of less than 60% of the diameter of the ascending aorta.|HPO|N|
C5676815|A type of aortic arch hypoplasia whereby the distal aortic arch (arch distal to the ductus arteriosus) has a diameter of less than 60% of the diameter of the ascending aorta.|HPO|N|
C5676816|A type of cross fused renal ectopia characterized by fusion between the upper pole of the cross-fused ectopic kidney (located more inferiorly relative to the other kidney) and the lower pole of the other orthotopic kidney (located in a more superior position).|HPO|N|
C5676817|A type of cross fused renal ectopia where the normal side kidney is present superiorly and the direction of pelvic is medial, the kidney which crosses positioned inferiorly with direction of pelvic toward the lateral side. As kidneys fuse after complete rotation on the vertical axis, both renal pelves lie in correct orientation.|HPO|N|
C5676818|A type of cross fused renal ectopia where fusion occurs over a wide margin, both renal pelves anteriorly directed and placed more inferiorly.|HPO|N|
C5676819|A type of cross fused renal ectopia in which kidneys fuse along their medial borders.|HPO|N|
C5676820|A type of cross fused renal ectopia in which the ectopic kidney lies superiorly and its lower pole fuses with the upper pole of the normal kidney. The renal pelvis of both kidneys lies anteriorly.|HPO|N|
C5676821|A type of neural tube defect that is not covered by skin.|HPO|N|
C5676822|A type of neural tube defect that is covered by skin.|HPO|N|
C5676823|An abnormal growth (lump) of tissue in the neck region of a fetus. Masses may be simple cystic,, cystic with a few simple septations (fewer than three septations and less than 3-mm thick), cystic with multiple or thick septations (greater than three septations or septations 3-mm-thick or more), a mass that is than is less than 50% solid, and a mass that is 50% solid or more.|HPO|N|
C5676824|An anomalous structural finding of the fetal lungs. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes.|HPO|N|
C5676825|At US examination from the second trimester onward, the fetal stomach appears as a uniformly anechoic, sharply circumscribed round structure in the left upper quadrant. However, debris is commonly visualized in the stomach, forming a pseudomass.|HPO|N|
C5676827|An abnormal growth (lump) of tissue that projects from the fetal scalp.|HPO|N|
C5676828|Increased echogenicity (increased brightness in the gray-scale sonography image) of the lens of a fetus.|HPO|N|
C5676829|An unusually severe infection by an influenza virus.|HPO|N|
C5676830|Nuchal edema is considered present in a fetus at gestational week 14 or more if in the midsagittal plane of the neck, there is subcutaneous edema that produces a characteristic tremor on ballotment of the fetal head. This constitutes the severe end of the spectrum of increased nuchal fold thickness, which is defined as soft-tissue thickening of 6 mm or more, seen in the suboccipitobregmatic view of the fetal head. Nuchal edema may be confined to the neck or it may be generalized, as part of hydrops fetalis.|HPO|N|
C5676831|An excessive division of the lobes of the nucleus of eosinophils. Eosinophils with more than two nuclear lobes are commonly regarded as hypersegmented, because seventy to ninety percent of peripheral blood eosinophils have two nuclear lobes.|HPO|N|
C5676832|The face of the giant panda sign on T2-weighted MRI is characterized by preservation of normal signal intensity in the red nuclei and lateral portion of the pars reticulata of the substantia nigra, high signal in the tegmentum, and hypointensity of the superior colliculus. The findings are said to resemble the face of a giant panda.|HPO|N|
C5676833|Lack of demonstrable hemidesmosomes at the dermoepidermal junction. Hemidesmosomes are the specialized junctional complexes, that contribute to the attachment of epithelial cells to the underlying basement membrane in stratified and other complex epithelia, such as the skin.|HPO|N|
C5676834|The presence of autoantibodies (immunoglobulins) in the blood circulation that recognize C4b2a, the C3 convertase of the classical pathway of complement.|HPO|N|
C5676835|Absence or underdevelopment of the midbrain (mesencephalon).|HPO|N|
C5676836|A developmental defect characterized by underdevelopment of the mesencephalon.|HPO|N|
C5676837|Developmental defect characterized by the absence of the zygomatic arch.|HPO|N|
C5676838|A developmental defect characterized by absence or underdevelopment of one or more facial bone.|HPO|N|
C5676839|Postcoital bleeding (PCB) consists of spotting or bleeding after sexual intercourse that is not related to a person's menstrual cycle.|HPO|N|
C5676840|Bleeding during sex.|HPO|N|
C5676841|Any anomaly of vagina function.|HPO|N|
C5676842|Decreased amount of autofluorescence (emission of fluorescent light from ocular structures in the absence of sodium fluorescein) in the retina in the region surrounding the fovea.|HPO|N|
C5676843|Drooping or sinking of tissues of the cheeks more than would be expected at a given age. Sagging can occur due to a relative excess of skin and/or lack of elastic recoil as well as fat accumulation.|HPO|N|
C5676844|Concentration of 2-deoxyuridine in the blood circulation is above the normal range.|HPO|N|
C5676845|The presence of 2,8-dihydroxyadenine crystals in the urine. The crystals appear as round, yellow-brown crystals.|HPO|N|
C5676846|Abnormally high concentration of protoporphyrin (derivative of porphyrin with propionic acid groups) in feces.|HPO|N|
C5676847|Repeated occurrences of inflammatory condition of the gums (gingival tissue), most commonly caused by bacterial infection.|HPO|N|
C5676848|Abnormally reduced blood flow pulsatility in in the middle cerebral artery (MCA). The pulsatility index (PI) is calculated using the following equation PI = (peak systolic velocity-end-diastolic velocity)/mean velocity.|HPO|N|
C5676849|An abnormality of the lacrimal bone.|HPO|N|
C5676850|Any structural anomaly of the iliac artery.|HPO|N|
C5676851|Any deviation from normal intensity or subject of a person's interests, which can be defined as a state of giving selective attention to something.|HPO|N|
C5676852|Highly restricted, fixated interests that are abnormal in intensity or focus (e.g., strong attachment to or preoccupation with unusual objects, excessively circumscribed or perseverative interests).|HPO|N|
C5676854|Atypical language features characterized by first vs. second or third person pronoun errors such as using 'you' or 'he/she' in place of 'I'.|HPO|N|
C5676856|Moving another person's hand, body part, or body to communicate a desire, e.g. pushing or pulling someone toward a desired object or placing someone's hand on something.|HPO|N|
C5676857|A fixated interest in a specific topic that is atypical for the social context of the individual, such as topics of a non-social nature like fossils or vacuum cleaners.|HPO|N|
C5676858|An abnormally intense interest in a topic or object that is not atypical for the social context of the affected person.|HPO|N|
C5676859|Unusual interest in sensory aspects of the environment.|HPO|N|
C5676861|Impairment in a child's ability to be able to play in a way that involves peer collaboration. Collaborative play involves things such as verbal and non-verbal communication (e.g., self-initiated interactions), turn-taking, sharing, reciprocity, and collaborative problem-solving. It is often contrasted to parallel play, which involves a form of social play in which two children do similar activities near each other and often mimic each other. Typically developing children develop collaborative play between the ages of 4 and 5.|HPO|N|
C5676863|An absence or abnormally low frequency of engaging with others to share personal interests or topics. Interest sharing includes offers of information about oneself as a form of social interaction.|HPO|N|
C5676864|An absence or reduction in object sharing. Object sharing is an early emerging social skill in which a child will share objects such as toys, balls, or books with parents or peers during object play.|HPO|N|
C5676865|The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ma.|HPO|N|
C5676866|The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ma1.|HPO|N|
C5676867|The presence of autoantibodies (immunoglobulins) in the blood circulation that react against titin.|HPO|N|
C5676868|The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Zic family member 4 (ZIC4).|HPO|N|
C5676869|An abnormally elevated echogenicity of fetal long bones in a prenatal sonographic investigation. This finding is due to hypermineralization.|HPO|N|
C5676871|An anomalous structural finding of the fetal genitourinary system. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes.|HPO|N|
C5676872|Foramen ovale aneurysm (FOA) or atrial septal aneurysm is abnormal redundancy of the atrial septum primum, with bulging of the septum by at least half the width of the atrial chamber, or by at least 10 mm beyond the level of the atrial septum. The abnormal protrusion of the interatrial septum results in decreased left atrial volume. On color Doppler there is reduced left ventricular inflow.|HPO|N|
C5676874|Congenital dyserythropoietic anemia type IIIa (CDAN3A) is a rare autosomal dominant hematologic disorder characterized by nonprogressive mild to moderate hemolytic anemia, macrocytosis in the peripheral blood, intravascular hemolysis, and giant multinucleated erythroblasts in the bone marrow. The disorder results from ineffective erythropoiesis. Laboratory studies show evidence of intravascular hemolysis, including increased thymidine kinase, lactate dehydrogenase, and/or undetectable haptoglobin (summary by Lind et al., 1995; Liljeholm et al., 2013).
For a discussion of genetic heterogeneity of congenital dyserythropoietic anemia, see 224120.|OMIM|N|
C5676875|Epidermolysis bullosa with pyloric atresia (EB-PA) is characterized by fragility of the skin and mucous membranes, manifested by blistering with little or no trauma; congenital pyloric atresia; and ureteral and renal anomalies (dysplastic/multicystic kidney, hydronephrosis/hydroureter, ureterocele, duplicated renal collecting system, absent bladder). The course of EB-PA is usually severe and often lethal in the neonatal period. Most affected children succumb as neonates; those who survive may have severe blistering with formation of granulation tissue on the skin around the mouth, nose, fingers, and toes, and internally around the trachea. However, some affected individuals have little or no blistering later in life. Additional features shared by EB-PA and the other major forms of EB include congenital localized absence of skin (aplasia cutis congenita) affecting the extremities and/or head, milia, nail dystrophy, scarring alopecia, hypotrichosis, contractures, and dilated cardiomyopathy.|GeneReviews|N|
C5676876|Carey-Fineman-Ziter syndrome-1 (CFZS1) is a multisystem congenital disorder characterized by hypotonia, Moebius sequence (bilateral congenital facial palsy with impairment of ocular abduction), Pierre Robin complex (micrognathia, glossoptosis, and high-arched or cleft palate), delayed motor milestones, and failure to thrive. More variable features include dysmorphic facial features, brain abnormalities, and intellectual disability. It has been postulated that many clinical features in CFZS1 may be secondary effects of muscle weakness during development or brainstem anomalies (summary by Pasetti et al., 2016).
Di Gioia et al. (2017) determined that CFZS1 represents a slowly progressive congenital myopathy resulting from a defect in myoblast fusion.
Genetic Heterogeneity of Carey-Fineman-Ziter Syndrome
Carey-Fineman-Ziter syndrome-2 (CFZS2) is caused by mutation in the MYMX gene (619912) on chromosome 6p21.|OMIM|N|
C5676877|Primary pulmonary hypertension-5 (PPH5) is an autosomal recessive disorder characterized by the onset of pulmonary arterial hypertension in infancy, resulting in right heart dysfunction and ultimately right heart failure. Death in early childhood is common (Machado et al., 2022).
For a discussion of genetic heterogeneity of primary pulmonary hypertension, see PPH1 (178600).|OMIM|N|
C5676878|A restrictive dermopathy that has material basis in homozygous or compound heterozygous mutation in the ZMPSTE24 gene on chromosome 1p34.|MONDO|N|
C5676879|X-linked thrombophilia due to factor VIII defect (THPH13) is associated with markedly elevated F8 levels and severe thrombophilia (summary by Simioni et al., 2021).|OMIM|N|
C5676880|X-linked adult-onset distal myopathy-7 (MPD7) is an X-linked recessive disorder that affects only males. It is characterized by onset of distal muscle weakness predominantly affecting the lower limbs between 20 and 60 years of age. The disorder is slowly progressive, with most affected individuals developing distal upper limb involvement and some developing proximal muscle involvement, although patients remain ambulatory. Muscle biopsy shows variable myopathic changes as well as sarcoplasmic inclusions that may represent abnormally aggregated proteins (summary by Johari et al., 2021).|OMIM|N|
C5676881|The Pilorge type of X-linked syndromic intellectual developmental disorder (MRXSP) is characterized by global developmental delay with variably impaired intellectual development, speech delay, and behavioral abnormalities, including autism spectrum disorder (ASD). More variable features include motor incoordination, seizures, and ocular abnormalities (summary by Marcogliese et al., 2022).|OMIM|N|
C5676882|X-linked spermatogenic failure-4 (SPGFX4) is characterized by male infertility due to azoospermia or oligoasthenoteratozoospermia. Some patients show maturation arrest, and Sertoli cell-only phenotype has been observed (Hardy et al., 2021; Arafat et al., 2021; Kherraf et al., 2022).
For a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).|OMIM|N|
C5676883|X-linked immunodeficiency-98 with autoinflammation (IMD98) is characterized by onset of recurrent infections associated with lymphoproliferation and autoinflammation in the first decade of life. Mostly males are affected; carrier females may have mild symptoms. Laboratory studies show evidence of immune dysregulation, including hypogammaglobulinemia with reduced memory B cells, skewed T-cell subsets, increased levels of proinflammatory cytokines, activated T cells and monocytes, and autoimmune cytopenias, including neutropenia (Aluri et al., 2021; Fejtkova et al., 2022).|OMIM|N|
C5676884|Systemic lupus erythematosus-17 (SLE17) is an X-linked dominant autoimmune disorder characterized by onset of systemic autoinflammatory symptoms in the first decades of life. Only affected females have been reported. Features may include classic features of SLE, such as malar rash and arthralgias, or can include less common entities such as hemiplegia and neuromyelitis optica (NMO). Laboratory studies show the presence of autoantibodies and enhanced NFKB (164011) signaling, the latter being consistent with a gain-of-function effect (Brown et al., 2022).
For a phenotypic description and a discussion of genetic heterogeneity of systemic lupus erythematosus (SLE), see 152700.|OMIM|N|
C5676885|X-linked systemic autoinflammatory disease (SAIDX) is characterized by the onset of systemic autoinflammation in the first months of life. Features include lymphadenopathy, hepatosplenomegaly, fever, panniculitis, and nodular skin rash. Additional manifestations may include inflammation of the optic nerve, intracranial hemorrhage, and lipodystrophy. Laboratory studies show hypogammaglobulinemia, increased or decreased white blood cell count, autoimmune cytopenias, elevated serum inflammatory markers, and a type I interferon signature (de Jesus et al., 2020 and Lee et al., 2022).|OMIM|N|
C5676886|Immunodeficiency-102 (IMD102) is an X-linked recessive immunologic disorder characterized by the onset of recurrent sinopulmonary, mucosal, and other infections in early childhood, usually accompanied by refractory autoimmune cytopenias. Affected individuals have bacterial, viral, and fungal infections, as well as hemolytic anemia, thrombocytopenia, lymphopenia, and decreased NK cells. Laboratory studies show defective T-cell proliferation and function, likely due to signaling abnormalities. The disorder may also manifest as a hyperinflammatory state with immune dysregulation (Delmonte et al., 2021).|OMIM|N|
C5676888|Stuve-Wiedemann syndrome is an autosomal recessive disorder characterized by bowing of the long bones and other skeletal anomalies, episodic hyperthermia, respiratory distress, and feeding difficulties usually resulting in early death (Dagoneau et al., 2004).
See also 'classic' Schwartz-Jampel syndrome type 1 (SJS1; 255800), a phenotypically similar but genetically distinct disorder caused by mutation in the HSPG2 gene (142461) on chromosome 1p36.
Genetic Heterogeneity of Stuve-Wiedemann Syndrome
Stuve-Wiedemann syndrome-2 (STWS2; 619751) is caused by mutation in the IL6ST gene (600694) on chromosome 5q11.|OMIM|N|
C5676890|Immunodeficiency-104 (IMD104) is an autosomal recessive disorder characterized by the onset of recurrent infections in early infancy. Manifestations may include oral thrush, fever, and failure to thrive. Some patients have lymphadenopathy and hepatosplenomegaly, whereas others have absence of lymph nodes and lack a thymic shadow. Laboratory studies show decreased or absent numbers of nonfunctional T cells, normal or increased levels of B cells, variable hypogammaglobulinemia, and normal NK cells. The disorder is caused by a defect in IL7 (146660) signaling due to a mutant IL7 receptor. Hematopoietic stem cell transplantation may be curative (Roifman et al., 2000 and Giliani et al., 2005).
Giliani et al. (2005) provided a detailed review of IL7R deficiency, including discussion of the IL7R gene and its function in the immune system, clinical features of the disorder, and experiences with hematopoietic stem cell transplant as treatment.
For a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive SCID, see 601457.|OMIM|N|
C5676891|Abnormal thyroid hormone metabolism-1 (THMA1) is characterized by multiorgan defects, including abnormal thyroid hormone metabolism, myopathy, hearing loss, and male infertility (summary by Catli et al., 2018).
Genetic Heterogeneity of Abnormal Thyroid Hormone Metabolism
THMA2 (619855) is caused by mutation in the DIO1 gene (147892) on chromosome 1p32. THMA3 (620198) is caused by mutation in the TRU-TCA1-1 gene (165060) on chromosome 19q13.|OMIM|N|
C5676892|Autosomal dominant isolated macrothrombocytopenia-1 (MACTHC1) is characterized by the finding of low platelet numbers and abnormally large platelets with irregular shapes. Affected individuals do not have increased bleeding episodes and platelet function is normal; macrothrombocytopenia is usually an incidental laboratory finding (Kunishima et al., 2009).
Genetic Heterogeneity of Isolated Macrothrombocytopenia
See also MACTHC2 (619840), caused by mutation in the TUBA8 gene (605742) on chromosome 22q11.|OMIM|N|
C5676893|CLPB (caseinolytic peptidase B) deficiency is characterized by neurologic involvement and neutropenia, which can range from severe to mild. In severe CLPB deficiency, death usually occurs at a few months of age due to significant neonatal neurologic involvement (hyperekplexia or absence of voluntary movements, hypotonia or hypertonia, swallowing problems, respiratory insufficiency, and epilepsy) and severe neutropenia associated with life-threatening infections. Individuals with moderate CLPB deficiency present with neurologic abnormalities in infancy including hypotonia and feeding problems, and develop spasticity, a progressive movement disorder (ataxia, dystonia, and/or dyskinesia), epilepsy, and intellectual disability. Neutropenia is variable, but not life threatening. In those with mild CLPB deficiency there is no neurologic involvement, intellect is normal, neutropenia is mild and intermittent, and life expectancy is normal.|GeneReviews|N|
C5676894|Neurodevelopmental disorder with hypotonia, impaired language, and dysmorphic features (NEDHILD) is a rare neurodevelopmental disorder associated with impaired intellectual development, speech and language impairment, microcephaly, seizures, hypotonia, ophthalmologic issues, constipation/gastroesophageal reflux, and behavioral problems, including autism and sleep disturbances (summary by Garrity et al., 2021).|OMIM|N|
C5676895|Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome-2 (CFSMR2) is characterized by flat face, low-set ears, and cleft lip and palate, as well as costovertebral anomalies including bifid and fused ribs, vertebral segmentation defects, and scoliosis. Intellectual delay can be severe, with absent speech (Alanay et al., 2014).
For a general phenotypic description and discussion of genetic heterogeneity of CFSMR, see CFSMR1 (213980).|OMIM|N|
C5676896|Autosomal dominant intellectual developmental disorder-69 (MRD69) is characterized by developmental delay with variably impaired intellectual development. Additional features may include intention tremor in infancy and seizures in childhood, with remission of these in adolescence (Alkhater et al., 2019).|OMIM|N|
C5676898|Visceral heterotaxy-12 (HTX12) is an embryonic developmental disorder characterized by defects in the asymmetric positioning of visceral organs across the left-right axis, known as laterality defects. The phenotype is highly variable, ranging from complete organ reversal (situs inversus totalis) to selective misarrangement of organs (situs ambiguus) such as the liver, spleen, and pancreas. The disorder is often associated with dextrocardia or variable complex congenital heart defects. Early death may occur in the most severe cases (summary by Szenker-Ravi et al., 2022).
For a discussion of the genetic heterogeneity of visceral heterotaxy, see HTX1 (306955).|OMIM|N|
C5676899|Immunodeficiency-93 and hypertrophic cardiomyopathy (IMD93) is an autosomal recessive disorder characterized by onset of recurrent viral and bacterial infections, particularly with encapsulated bacteria, and hypertrophic cardiomyopathy in the first months or years of life. Immunologic workup typically shows decreased circulating B cells and hypo- or agammaglobulinemia, sometimes with neutropenia or T-cell lymphocytosis, although laboratory findings may be variable among patients. Ig replacement therapy is beneficial. Cardiac involvement can also include atrial septal defect, valvular insufficiency, and pre-excitation syndrome. Rare myopathic or neurologic involvement has been reported, but these features are not consistently part of the disorder and may be related to other genetic defects (summary by Niehues et al., 2020 and Saettini et al., 2021).|OMIM|N|
C5676900|Autosomal dominant agammaglobulinemia-10 (AGM10) is characterized by early-childhood onset of recurrent viral and bacterial infections affecting various organ systems, particularly the sinopulmonary system. Laboratory studies show low or absent circulating B cells and hypo- or agammaglobulinemia. Affected individuals may have adverse reactions to certain vaccinations, such as the polio vaccine. Treatment with replacement Ig is effective; hematopoietic stem cell transplantation has also been reported (summary by Le Coz et al., 2021).
For a discussion of genetic heterogeneity of autosomal agammaglobulinemia, see AGM1 (601495).|OMIM|N|
C5676901|PI4KA-related disorder is a clinically variable disorder characterized primarily by neurologic dysfunction (limb spasticity, developmental delay, intellectual disability, seizures, ataxia, nystagmus), gastrointestinal manifestations (multiple intestinal atresia, inflammatory bowel disease), and combined immunodeficiency (leukopenia, variable immunoglobulin defects). Age of onset is typically antenatal or in early childhood; individuals can present with any combination of these features. Rare individuals present with later-onset hereditary spastic paraplegia. Brain MRI findings can include hypomyelinating leukodystrophy, cerebellar hypoplasia/atrophy, thin or dysplastic corpus callosum, and/or perisylvian polymicrogyria.|GeneReviews|N|
C5676902|Autosomal recessive intellectual developmental disorder-73 (MRT73) is characterized by global developmental delay with hypotonia and mildly delayed walking, impaired intellectual development with poor or absent speech, and mildly dysmorphic features (summary by Morrison et al., 2021).|OMIM|N|
C5676903|HH26 is characterized by micropenis and cryptorchidism at birth in male patients, and absent puberty and anosmia in male or female patients. Some affected individuals also exhibit craniosynostosis (Davis et al., 2020).
Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH; 152760) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by Raivio et al., 2007). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia (HH).'
For a discussion of genetic heterogeneity of hypogonadotropic hypogonadism with or without anosmia as well as a discussion of oligogenicity of this disorder, see 147950.|OMIM|N|
C5676904|Intellectual disability and myopathy syndrome (IDMYS) is an autosomal recessive developmental disorder characterized by global developmental delay with mildly impaired intellectual development, hypotonia, muscle weakness and fatigue, and white matter abnormalities on brain imaging. Variable additional features may include sensorineural hearing loss, dysmorphic facies, and progressive heart disease (summary by Smeland et al., 2019).|OMIM|N|
C5676905|Bryant-Li-Bhoj neurodevelopmental syndrome-1 (BRYLIB1) is a highly variable phenotype characterized predominantly by moderate to severe global developmental delay with impaired intellectual development, poor or absent speech, and delayed motor milestones. Most patients have hypotonia, although some have peripheral hypertonia. Common features include abnormal head shape, variable dysmorphic facial features, oculomotor abnormalities, feeding problems, and nonspecific brain imaging abnormalities. Additional features may include hearing loss, seizures, short stature, and mild skeletal defects (summary by Bryant et al., 2020).
Genetic Heterogeneity of Bryant-Li-Bhoj Neurodevelopmental Syndrome
See also BRYLIB2 (619721), caused by heterozygous mutation in the H3F3B gene (601058).|OMIM|N|
C5676906|Bryant-Li-Bhoj neurodevelopmental syndrome-2 (BRYLIB2) is a highly variable phenotype characterized predominantly by moderate to severe global developmental delay with impaired intellectual development, poor or absent speech, and delayed motor milestones. Most patients have hypotonia, although some have peripheral hypertonia. Common features include variable dysmorphic facial features, oculomotor abnormalities, feeding problems, and nonspecific brain imaging abnormalities. Additional features may include hearing loss, seizures, short stature, and mild skeletal defects (summary by Bryant et al., 2020).
For a discussion of genetic heterogeneity of Bryant-Li-Bhoj neurodevelopmental syndrome, see BRYLIB1 (619720).|OMIM|N|
C5676907|Myoclonic dystonia-34 (DYT34) is an autosomal dominant neurologic disorder characterized by childhood-onset dystonia primarily involving the hands and neck, with a fast tremor with superimposed myoclonus (Balint et al., 2020).|OMIM|N|
C5676908|Neurodevelopmental disorder with or without variable movement or behavioral abnormalities (NEDMAB) is an autosomal dominant disorder characterized by mildly to severely impaired intellectual development and, in some patients, movement abnormalities consisting of tremors, cerebellar ataxia, or extrapyramidal symptoms. Movement abnormalities have onset in childhood or adolescence. Other variable features include autism spectrum disorder or autistic features and epilepsy.|OMIM|N|
C5676909|Inclusion body myopathy and brain white matter abnormalities (IBMWMA) is an autosomal dominant adult-onset disorder characterized predominantly by proximal limb girdle muscle weakness affecting the lower and upper limbs and resulting in gait difficulties and scapular winging. Additional features may include dysarthria, dysphagia, low back pain, and hyporeflexia. EMG is consistent with a myopathic process, although neuropathic findings have also been shown. Muscle biopsy shows fiber type variation, internal nuclei, rimmed vacuoles, and cytoplasmic protein aggregates or inclusions. Serum creatine kinase is usually elevated. Cognitive impairment or frontotemporal dementia occurs in some patients. The disorder is slowly progressive; some patients become wheelchair-bound after many years. Rare patients with this mutation develop ALS; some have both myopathy and ALS. Brain imaging shows white matter abnormalities using diffusion tensor imaging. The disorder is classified as multisystem proteinopathy-6 (MSP6) due to the characteristic disease mechanism of protein misfolding and abnormal tissue deposition (summary by Leoni et al., 2021).|OMIM|N|
C5676910|Autosomal recessive spastic paraplegia-86 (SPG86) is a complex neurologic disorder characterized by global developmental delay apparent from early childhood combined with early-onset progressive spasticity mainly affecting the lower limbs, but also affecting the upper limbs. Affected individuals have hyperreflexia, extensor plantar responses, pyramidal signs, and difficulty walking or inability to walk. Some may have joint contractures and foot or ankle deformities. Patients with SPG86 have impaired intellectual development with poor or absent speech, often with behavioral abnormalities. Brain imaging shows thin corpus callosum and white matter abnormalities. Rare patients may have seizures. The disorder is thus a complicated form of SPG (summary by Yahia et al., 2021, Miyake et al., 2022).
For a discussion of genetic heterogeneity of autosomal recessive spastic paraplegia, see SPG5A (270800).|OMIM|N|
C5676911|Teebi hypertelorism syndrome-2 (TBHS2) is characterized primarily by hypertelorism, prominent forehead, thick and broad eyebrows, and short nose with depressed nasal root and broad nasal tip. Other features include thin upper lip, small chin with horizontal crease, and high or cleft palate. Developmental delay and/or impaired intellectual development have been observed in some patients (Li et al., 2021).
For a general phenotypic description and a discussion of genetic heterogeneity of Teebi hypertelorism syndrome, see TBHS1 (145420).|OMIM|N|
C5676912|Combined oxidative phosphorylation deficiency-54 (COXPD54) is an autosomal recessive disorder with pleiotropic multisystem presentations resulting from a disruption in mitochondrial transcription and translation. The phenotype is highly variable. Many patients have early-onset sensorineural hearing loss, sometimes in isolation, and sometimes associated with global developmental delay or primary ovarian failure. Other features may include peripheral hypertonia, seizures, muscle weakness, behavioral abnormalities, and leukoencephalopathy on brain imaging. Serum lactate may or may not be elevated (summary by Hochberg et al., 2021).
For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060).|OMIM|N|
C5676913|Childhood-onset parkinsonism-dystonia-3 (PKDYS3) is an autosomal recessive neurodegenerative disorder with onset in infancy or early childhood. Affected individuals present with progressive movement abnormalities, including parkinsonism with tremor, dystonia, myoclonus ataxia, and hyperkinetic movements such as ballismus. The parkinsonism features may be responsive to treatment with levodopa, although many patients develop levodopa-induced dyskinesia. Some patients may have mild cognitive impairment or psychiatric disturbances (summary by Burke et al., 2018 and Skorvanek et al., 2022).
For a discussion of genetic heterogeneity of PKDYS, see 613135.|OMIM|N|
C5676914|Demyelinating Charcot-Marie-Tooth disease type 1I (CMT1I) is a neurologic disorder characterized predominantly by delayed motor development in the first years of life associated with gait abnormalities, sensory ataxia, hyporeflexia, and distal sensory impairment due to a sensorimotor peripheral neuropathy that mainly affects the lower limbs. The disorder is progressive, and some may have upper limb involvement. A subset of patients has central nervous system involvement that manifests as global developmental delay with impaired intellectual development and speech difficulties. Other features may include spasticity, hyperreflexia, tremor, dysmetria, seizures, or cerebellar findings. Brain imaging may be normal or show nonspecific abnormalities, such as white matter signal changes and delayed myelination (summary by Djordjevic et al., 2021).
For a discussion of genetic heterogeneity of autosomal dominant Charcot-Marie-Tooth disease type 1, see CMT1B (118200).|OMIM|N|
C5676915|Combined oxidative phosphorylation deficiency-55 (COXPD55) is characterized by global developmental delay, hypotonia, short stature, and impaired intellectual development with speech disabilities in childhood. Indolent progressive external ophthalmoplegia phenotype has been described in 1 patient (summary by Olahova et al., 2021).
For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060).|OMIM|N|
C5676916|Noonan syndrome-14 (NS14) is a recessive developmental disorder within the RASopathy clinical spectrum. Patients exhibit developmental delay, impaired intellectual development, and short stature, as well as distinctive dysmorphic features including bitemporal narrowing, hypertelorism, low-set posteriorly rotated ears, prominent nasal bridge, low posterior hairline with a short webbed neck, and pectus excavatum (Motta et al., 2021).
For a general phenotypic description and discussion of genetic heterogeneity of Noonan syndrome, see NS1 (163950).|OMIM|N|
C5676917|Dilated cardiomyopathy-2F (CMD2F) is an autosomal recessive early-onset cardiomyopathy associated with refractory ventricular arrhythmias and severe heart failure requiring placement of a left ventricular assist device (Hakui et al., 2022).
For a general phenotypic description and discussion of genetic heterogeneity of dilated cardiomyopathy, see 115200.|OMIM|N|
C5676918|Immunodeficiency-94 with autoinflammation and dysmorphic facies (IMD94) is a systemic immunologic disorder with onset in early infancy. Primary features include lymphadenopathy, autoinflammation, immunodeficiency with hypogammaglobulinemia, and dysmorphic facial features. Intellectual development is normal and serum IgE is not elevated. The disease results from constitutive activation of the IL6 signaling cascade, resulting in immune dysregulation and a hyperinflammatory state (summary by Materna-Kiryluk et al., 2021).|OMIM|N|
C5676919|Stuve-Wiedemann syndrome-2 (STWS2) is an autosomal recessive lethal skeletal dysplasia characterized by short stature, small chest, bowing of the long bones, and neonatal cardiopulmonary and autonomous dysfunction. Additional variable features include congenital thrombocytopenia, eczematoid dermatitis, renal anomalies, and defective acute-phase response (Chen et al., 2020).
For a general phenotypic description and discussion of genetic heterogeneity of Stuve-Wiedemann syndrome, see STWS1 (601559).|OMIM|N|
C5676920|Hyper-IgE syndrome-4A with recurrent infections (HIES4A) is an autosomal dominant immunologic disorder characterized by recurrent, mainly sinopulmonary infections associated with increased serum IgE. The phenotype is variable, even within families. Some patients have onset of symptoms in early childhood and develop complications, including bronchiectasis or hemoptysis, whereas others have later onset of less severe infections. Immunologic workup usually shows normal leukocyte levels, although some patients may demonstrate alterations in lymphocyte subsets, including T cells. Affected individuals also have variable skeletal abnormalities, including high-arched palate, hyperextensible joints, scoliosis, and bone fractures. The IL6ST mutations are loss-of-function, although the truncated mutant proteins are expressed and interfere with the wildtype protein in a dominant-negative manner by disrupting IL6 (147620) and IL11 (147681) signaling (summary by Beziat et al., 2020).
For a discussion of genetic heterogeneity of hyper-IgE syndrome, see HIES1 (147060).|OMIM|N|
C5676921|Hypogonadotropic hypogonadism-27 without anosmia (HH27) is characterized by lack of pubertal development associated with onset of obesity in early adolescence (Topaloglu et al., 2022).
Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH; 152760) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by Raivio et al., 2007). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia (HH).'|OMIM|N|
C5676922|Tessadori-Bicknell-van Haaften neurodevelopmental syndrome-1 (TEBIVANED1) is characterized by poor overall growth with short stature, microcephaly, hypotonia, profound global developmental delay often with poor or absent speech, and characteristic dysmorphic facial features, including hypertelorism and abnormal nose. Other variable neurologic and systemic features may also occur (Tessadori et al., 2017).
Genetic Heterogeneity of Tessadori-van Haaften Neurodevelopmental Syndrome
See also TEBIVANED2 (619759), caused by mutation in the H4C11 gene (602826); TEBIVANED3 (619950), caused by mutation in the H4C5 gene (602830); and TEBIVANED4 (619951), caused by mutation in the H4C9 gene (602833).|OMIM|N|
C5676923|Tessadori-Bicknell-van Haaften neurodevelopmental syndrome-2 (TEBIVANED2) is characterized by poor overall growth, profound global developmental delay with absent speech, and characteristic dysmorphic facial features, including hypertelorism, abnormal nose, and wide mouth (Tessadori et al., 2020).
For a discussion of genetic heterogeneity of Tessadori-Bicknell-van Haaften neurodevelopmental syndrome, see TEBIVANED1 (619758).|OMIM|N|
C5676924|Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism (CDIDHH) is characterized by delayed motor development, ataxia, severe progressive scoliosis, moderate to severe intellectual disability, and delayed sexual development. Cerebellar hypoplasia has been observed in some patients (Whittaker et al., 2021).|OMIM|N|
C5676925|Kury-Isidor syndrome (KURIS) is a neurodevelopmental disorder with a highly variable phenotype. It is characterized mainly by mild global developmental delay apparent from infancy or early childhood with walking delayed by a few years and speech delay, often with language deficits. Intellectual development may be mildly delayed, borderline, or even normal; most patients have behavioral problems, including autism. Additional variable systemic features may include poor overall growth, hypotonia, distal skeletal anomalies, seizures, and nonspecific dysmorphic facial features (summary by Kury et al., 2022).|OMIM|N|
C5676926|Demyelinating Charcot-Marie-Tooth disease-1H (CMT1H) is an autosomal dominant peripheral sensorimotor neuropathy with onset usually in adulthood (third to fifth decades). Affected individuals present with foot deformities, upper or lower limb sensory disturbances, and motor deficits, mainly impaired gait. Of note, many patients complain of unpleasant sensory sensations in the upper extremities and hands. The disorder is slowly progressive and becomes more apparent with age, although patients usually remain ambulatory. Other features include hypo- or areflexia, limb muscle weakness, and impaired gait. Electrophysiologic studies are consistent with a demyelinating polyneuropathy. Rare patients may have hyperelastic skin or develop age-related macular degeneration (summary by Auer-Grumbach et al., 2011 and Safka Brozkova et al., 2020)
For a discussion of genetic heterogeneity of autosomal dominant Charcot-Marie-Tooth disease type 1, see CMT1B (118200).|OMIM|N|
C5676927|Dyskeratosis congenita and related telomere biology disorders (DC/TBD) are caused by impaired telomere maintenance resulting in short or very short telomeres. The phenotypic spectrum of telomere biology disorders is broad and includes individuals with classic dyskeratosis congenita (DC) as well as those with very short telomeres and an isolated physical finding. Classic DC is characterized by a triad of dysplastic nails, lacy reticular pigmentation of the upper chest and/or neck, and oral leukoplakia, although this may not be present in all individuals. People with DC/TBD are at increased risk for progressive bone marrow failure (BMF), myelodysplastic syndrome or acute myelogenous leukemia, solid tumors (usually squamous cell carcinoma of the head/neck or anogenital cancer), and pulmonary fibrosis. Other findings can include eye abnormalities (epiphora, blepharitis, sparse eyelashes, ectropion, entropion, trichiasis), taurodontism, liver disease, gastrointestinal telangiectasias, and avascular necrosis of the hips or shoulders. Although most persons with DC/TBD have normal psychomotor development and normal neurologic function, significant developmental delay is present in both forms; additional findings include cerebellar hypoplasia (Hoyeraal Hreidarsson syndrome) and bilateral exudative retinopathy and intracranial calcifications (Revesz syndrome and Coats plus syndrome). Onset and progression of manifestations of DC/TBD vary: at the mild end of the spectrum are those who have only minimal physical findings with normal bone marrow function, and at the severe end are those who have the diagnostic triad and early-onset BMF.|GeneReviews|N|
C5676928|Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin (MNDLFH) is characterized by clinically significant pharyngeal lymphoid hypertrophy, with adenoid overgrowth, frequent upper airway infections, and sleep apnea. Macrocephaly without structural brain abnormalities is present, and patients exhibit increased weight for height as well as delayed gross motor and impaired intellectual development; autistic features and attention-deficit hyperactivity disorder have also been reported. An increased fraction of fetal hemoglobin has been observed in some patients (Ohishi et al., 2020; von der Lippe et al., 2022).|OMIM|N|
C5676929|Immunodeficiency-95 (IMD95) is an autosomal recessive disorder characterized predominantly by the onset of recurrent and severe viral respiratory infections in infancy or early childhood. Affected individuals often require hospitalization or respiratory support for these infections, which include human rhinovirus (HRV) and RSV. Immunologic workup is usually normal, although some mild abnormalities may be observed. The disorder results from a loss of ability of the innate immune system to sense viral genetic information, which causes a lack of interferon (IFN) production, poor response to viral and immunologic stimulation, and failure to control viral replication (summary by Lamborn et al., 2017, Asgari et al., 2017, Cananzi et al., 2021).|OMIM|N|
C5676930|Immunodeficiency-96 (IMD96) is an autosomal recessive disorder characterized by onset of recurrent, usually viral, respiratory infections in infancy or early childhood. Other infections, including gastrointestinal and urinary tract infections, may also occur. Laboratory studies show hypogammaglobulinemia, lymphopenia with increased gamma/delta T cells, and erythrocyte macrocytosis. The disorder results from defective cellular DNA repair (summary by Maffucci et al., 2018).|OMIM|N|
C5676931|Congenital disorder of deglycosylation-2 (CDDG2) is an autosomal recessive disorder with variable associated features such as dysmorphic facies, impaired intellectual development, and brain anomalies, including polymicrogyria, interhemispheric cysts, hypothalamic hamartoma, callosal anomalies, and hypoplasia of brainstem and cerebellar vermis (Maia et al., 2022).
For a discussion of genetic heterogeneity of congenital disorder of deglycosylation, see CDGG1 (615273).|OMIM|N|
C5676932|Developmental and epileptic encephalopathy-100 (DEE100) is a severe neurologic disorder characterized by global developmental delay and onset of variable types of seizures in the first months or years of life. Most patients have refractory seizures and show developmental regression after seizure onset. Affected individuals have ataxic gait or inability to walk and severe to profoundly impaired intellectual development, often with absent speech. Additional more variable features may include axial hypotonia, hyperkinetic movements, dysmorphic facial features, and brain imaging abnormalities (summary by Schneider et al., 2021).
For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350.|OMIM|N|
C5676934|Mitochondrial DNA depletion syndrome-20 (MTDPS20) is an autosomal recessive multisystem disorder with variable manifestations and severity. Most patients develop symptoms in childhood, although the onset can range from infancy to the teenage years. Prominent features include severe gastrointestinal dysmotility often requiring parenteral nutrition, neurogenic bladder, and muscle weakness and atrophy. Neurologic involvement manifests as headaches, stroke-like episodes, seizures, pyramidal signs, and learning difficulties or cognitive decline. Brain imaging usually shows diffuse leukoencephalopathy and may show cerebellar atrophy. The disorder results from a defect in the maintenance and repair of mitochondrial DNA, resulting in mtDNA depletion and impaired mitochondrial function (summary by Bonora et al., 2021).
For a discussion of genetic heterogeneity of mtDNA depletion syndromes, see MTDPS1 (603041).|OMIM|N|
C5676935|Myopia-28 (MYP28) is characterized by early-onset high myopia in the first decade of life. Retinal detachment may occur, and early-onset cataract has been reported (Li et al., 2016; Maddirevula et al., 2020).
For a general phenotypic description and discussion of genetic heterogeneity of myopia, see MYP2 (160700).|OMIM|N|
C5676936|Intermediate junctional epidermolysis bullosa 2A (JEB2A) is an autosomal recessive blistering disease of skin and mucous membranes. Blistering is less severe than in severe JEB (see 226700). The plane of skin cleavage is through the lamina lucida of the cutaneous basement membrane zone. Oral mucosa may be involved and nail bed blistering has been reported. Blistering does not affect the life span of affected individuals (summary by Has et al., 2020).
For a discussion of genetic heterogeneity of the subtypes of JEB, see JEB1A (226650).
Reviews
Has et al. (2020) reviewed the clinical and genetic aspects, genotype-phenotype correlations, disease-modifying factors, and natural history of epidermolysis bullosa.|OMIM|N|
C5676937|Severe junctional epidermolysis bullosa 2B (JEB2B) is an autosomal recessive skin blistering disorder characterized by extreme fragility of the skin and epithelia of various extracutaneous tissues. Skin blisters and erosions are present at birth. The plane of skin cleavage is through the lamina lucida of the cutaneous basement membrane zone. Oral mucosal blistering and laryngeal and esophageal mucosal involvement can occur. Patients usually die before 1 year of age (summary by Has et al., 2020).
For a discussion of genetic heterogeneity of the subtypes of JEB, see JEB1A (226650).
Reviews
Has et al. (2020) reviewed the clinical and genetic aspects, genotype-phenotype correlations, disease-modifying factors, and natural history of epidermolysis bullosa.|OMIM|N|
C5676938|Intermediate junctional epidermolysis bullosa 3A (JEB3A) is an autosomal recessive blistering disease of skin and mucous membranes. Blistering is less severe than in severe JEB (see 226700). The plane of skin cleavage is through the lamina lucida of the cutaneous basement membrane zone. Nail and dental abnormalities occur. Blistering does not affect the life span of affected individuals (summary by Has et al., 2020).
For a discussion of genetic heterogeneity of the subtypes of JEB, see JEB1A (226650).
Reviews
Has et al. (2020) reviewed the clinical and genetic aspects, genotype-phenotype correlations, disease-modifying factors, and natural history of epidermolysis bullosa.|OMIM|N|
C5676939|Severe junctional epidermolysis bullosa 3B (JEB3B) is an autosomal recessive skin blistering disorder characterized by extreme fragility of the skin and epithelia of various extracutaneous tissues. Skin blisters and erosions are present at birth. The plane of skin cleavage is through the lamina lucida of the cutaneous basement membrane zone. Patients die in infancy to early adulthood (summary by Has et al., 2020).
For a discussion of genetic heterogeneity of the subtypes of JEB, see JEB1A (226650).
Reviews
Has et al. (2020) reviewed the clinical and genetic aspects, genotype-phenotype correlations, disease-modifying factors, and natural history of epidermolysis bullosa.|OMIM|N|
C5676940|Congenital dyserythropoietic anemia type IIIb (CDAN3B) is an autosomal recessive disorder characterized macrocytic anemia, aberrant giant multinucleated erythroblasts in the bone marrow, and skull defects secondary to severe anemia with ineffective erythropoiesis (summary by Hernandez et al., 2023).
For a general description and a discussion of genetic heterogeneity of CDA, see CDAN1 (224120).|OMIM|N|
C5676941|Oculopharyngodistal myopathy-4 (OPDM4) is an autosomal dominant neuromuscular disorder characterized by progressive ptosis, ophthalmoparesis, facial and masseter weakness, and muscle weakness of the distal limbs. Initial symptoms of the disorder, ptosis and limited eye movements, most commonly appear in the second or third decades. There is slow progression with development of dysarthria, dysphagia, and distal limb weakness and atrophy associated with absent deep tendon reflexes; sensation is normal. Serum creatine kinase is often increased, and skeletal muscle biopsy typically shows chronic myopathic changes with rimmed vacuoles and filamentous intranuclear inclusions (summary by Yu et al., 2022).
For a discussion of genetic heterogeneity of OPDM, see OPDM1 (164310).|OMIM|N|
C5676942|Restrictive dermopathy is a rare genodermatosis characterized mainly by intrauterine growth retardation, tight and rigid skin with erosions, prominent superficial vasculature and epidermal hyperkeratosis, facial dysmorphism (small mouth, small pinched nose and micrognathia), sparse/absent eyelashes and eyebrows, mineralization defects of the skull, thin dysplastic clavicles, pulmonary hypoplasia, multiple joint contractures, and an early neonatal lethal course. Liveborn children usually die within the first week of life (summary by Navarro et al., 2004).
For a discussion of genetic heterogeneity of restrictive dermopathy, see RSDM1 (275210).|OMIM|N|
C5676943|Osteogenesis imperfecta comprises a group of connective tissue disorders characterized clinically by bone fragility, low bone mass, and increased susceptibility to fractures. Osteogenesis imperfecta type XXII (OI22) is a severe recessive form of the disease (Dubail et al., 2020).|OMIM|N|
C5676944|Neurodevelopmental disorder with central hypotonia and dysmorphic facies (NEDCHF) is an autosomal dominant disorder characterized by global developmental delay, impaired intellectual development, seizures, distinctive facial features, scoliosis, delayed closure of the anterior fontanel, and nonspecific brain abnormalities (Wakeling et al., 2021).|OMIM|N|
C5676945|Spermatogenic failure-66 (SPGF66) is characterized by male infertility due to all sperm being round-headed (globozoospermia) and lacking the acrosome (Oud et al., 2020).
For a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).|OMIM|N|
C5676946|Immunodeficiency-97 with autoinflammation (IMD97) is an autosomal recessive complex immunologic disorder with variable features. Affected individuals present in the first decade of life with inflammatory interstitial lung disease or colitis due to abnormal tissue infiltration by activated T cells. Patients develop autoimmune cytopenias and may have lymphadenopathy; 1 reported patient had features of hemophagocytic lymphohistiocytosis (HLH; see FHL1, 267700). Some patients may have recurrent infections associated with mild lymphopenia, hypogammaglobulinemia, and NK cell dysfunction. Immunologic workup indicates signs of significant immune dysregulation with elevation of inflammatory serum markers, variable immune cell defects involving neutrophils, NK cells, and myeloid cells, and disrupted levels of T regulatory cells (Tregs). Two unrelated patients have been reported (summary by Takeda et al., 2019 and Thian et al., 2020).|OMIM|N|
C5676947|Spermatogenic failure-67 (SPGF67) is characterized by male infertility due to sperm being round-headed (globozoospermia) and lacking the acrosome (Oud et al., 2020).
For a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).|OMIM|N|
C5676948|Autosomal dominant deafness-82 (DFNA82) is characterized by onset of rapidly progressive bilateral sensorineural hearing loss usually early in the first decade, although later onset may rarely occur. Affected individuals often pass the newborn screening test before the onset of mild to profound hearing loss (Smits et al., 2019).|OMIM|N|
C5676949|Spermatogenic failure-68 (SPGF68) is characterized by male infertility due to sperm being round-headed (globozoospermia) and lacking the acrosome (Oud et al., 2020).
For a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).|OMIM|N|
C5676950|Spinocerebellar ataxia-49 (SCA49) is an autosomal dominant neurologic disorder characterized initially by gait abnormalities, gaze-evoked nystagmus, and hyperreflexia. The age at onset is highly variable, ranging from the second to seventh decades, even within the same family. The disorder is slowly progressive, and later features may include dysarthria, dysmetria, diplopia, pyramidal signs, and axonal peripheral neuropathy. Brain imaging shows cerebellar atrophy and myelination defects (Corral-Juan et al., 2022).|OMIM|N|
C5676951|Autosomal dominant deafness-83 (DFNA83) is characterized by the onset of progressive sensorineural hearing loss at an average age of 24 years. A notable finding is a normal distortion product otoacoustic emissions (DPOAE) test, implicating dysfunction of spiral ganglia neurons rather than outer hair cells as a disease mechanism (Cui et al., 2020).|OMIM|N|
C5676952|Autosomal dominant deafness-84 (DFNA84) is characterized by slowly progressive nonsyndromic sensorineural hearing loss. Onset is usually in the postlingual period, during the first or second decades, although both congenital and later onset has been reported. There is intrafamilial variation in disease severity, audiogram shape, and progression (summary by Pater et al., 2022).|OMIM|N|
C5676953|The Emm red blood cell antigen is assigned number 901008 in the International Society of Blood Transfusion (ISBY) 901 series of high incidence antigens. Emm has been designated the 42nd blood group system. Rare individuals have an Emm- phenotype due to homozygous loss-of-function mutations in the PIGG gene. These individuals often have naturally occurring anti-Emm antibodies that are identified during routine blood type and crossing. These antibodies have the potential to cause acute hemolytic transfusion reactions (summary by Lane et al., 2021).|OMIM|N|
C5676954|Autosomal dominant severe congenital neutropenia-9 (SCN9) is characterized by onset of neutropenia in the first years of life. Most patients have recurrent infections; bone marrow examination shows a myeloid maturation arrest. Rare patients may exhibit additional features such as seizures, learning difficulties, or cataracts, which are more commonly observed in patients with MGCA7 (616271). However, patients with SCN9 do not have 3-methylglutaconic aciduria, and most have normal neurologic function (Warren et al., 2022).
For a discussion of genetic heterogeneity of severe congenital neutropenia, see SCN1 (202700).|OMIM|N|
C5676955|Developmental and epileptic encephalopathy-101 (DEE101) is a severe autosomal recessive disorder characterized by early infantile epileptic encephalopathy and severe global developmental delay (summary by Blakes et al., 2022).
For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350.|OMIM|N|
C5676956|Intermediate junctional epidermolysis bullosa 5A (JEB5A) is an autosomal recessive blistering disease of skin and mucous membranes. Blistering is less severe than in severe JEB (see 226700). The plane of skin cleavage is through the lamina lucida of the cutaneous basement membrane zone. Nails may be dystrophic and dental enamel defects are present. Blistering does not affect the life span of affected individuals (summary by Has et al., 2020).
For a discussion of genetic heterogeneity of the subtypes of JEB, see JEB1A (226650).
Reviews
Has et al. (2020) reviewed the clinical and genetic aspects, genotype-phenotype correlations, disease-modifying factors, and natural history of epidermolysis bullosa.|OMIM|N|
C5676957|Epidermolysis bullosa with pyloric atresia (EB-PA) is characterized by fragility of the skin and mucous membranes, manifested by blistering with little or no trauma; congenital pyloric atresia; and ureteral and renal anomalies (dysplastic/multicystic kidney, hydronephrosis/hydroureter, ureterocele, duplicated renal collecting system, absent bladder). The course of EB-PA is usually severe and often lethal in the neonatal period. Most affected children succumb as neonates; those who survive may have severe blistering with formation of granulation tissue on the skin around the mouth, nose, fingers, and toes, and internally around the trachea. However, some affected individuals have little or no blistering later in life. Additional features shared by EB-PA and the other major forms of EB include congenital localized absence of skin (aplasia cutis congenita) affecting the extremities and/or head, milia, nail dystrophy, scarring alopecia, hypotrichosis, contractures, and dilated cardiomyopathy.|GeneReviews|N|
C5676958|Autosomal recessive agammaglobulinemia-8B (AGM8B) is characterized by onset of recurrent infections in early childhood. Laboratory studies of affected individuals show decreased circulating immunoglobulins and decreased peripheral B cells. More variable features may include dysmorphic facies and subtle abnormalities of other immune cells, such as T cells. One patient who developed childhood B-cell acute lymphocytic leukemia (B-ALL) has been described (summary by Ben-Ali et al., 2017).|OMIM|N|
C5676959|Familial thoracic aortic aneurysm-12 (AAT12) is characterized by dilation of the arterial wall associated with a progressive loss of its ability to withstand the wall tension generated by high intraluminal pressure, which can lead to intramural or complete acute vessel wall rupture. Some patients have dolichostenomelia (summary by Elbitar et al., 2021).
For a general phenotypic description and a discussion of genetic heterogeneity of thoracic aortic aneurysm, see AAT1 (607086).|OMIM|N|
C5676960|Spermatogenic failure-69 (SPGF69) is characterized by male infertility due to sperm being round-headed (globozoospermia) and lacking the acrosome (Oud et al., 2020).
For a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).|OMIM|N|
C5676961|Autosomal recessive intellectual developmental disorder-75 with neuropsychiatric features and variant lissencephaly (MRT75) is characterized by global developmental delay apparent from infancy or early childhood and moderate to profoundly impaired intellectual development. Most affected individuals have behavioral abnormalities, including aggression and ADHD; a few have psychiatric manifestations, including psychosis. More variable additional features include well-controlled seizures and dysmorphic facial features. Brain imaging often shows frontal predominant pachygyria or other gyri/sulci abnormalities, consistent with a variant of lissencephaly and a malformation of cortical development (MCD) (summary by Zaki et al., 2021).|OMIM|N|
C5676962|Spermatogenic failure-70 (SPGF70) is characterized by male infertility due to azoospermia or sperm immotility and necrozoospermia (Yildirim et al., 2018). Hypospermatogenesis and meiotic arrest have also been observed (Kherraf et al., 2022).
For a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).|OMIM|N|
C5676963|Spermatogenic failure-71 (SPGF71) is characterized by male infertility due to nonobstructive azoospermia (Alhathal et al., 2020).
For a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).|OMIM|N|
C5676964|Autosomal dominant auditory neuropathy-3 (AUNA3) is characterized by progressive hearing loss with inability to discriminate speech but preserved sensitivity to sound (Jang et al., 2021).
For a discussion of genetic heterogeneity of autosomal dominant auditory neuropathy, see AUNA1 (609129).|OMIM|N|
C5676965|Neurodevelopmental disorder with neuromuscular and skeletal abnormalities (NEDNMS) is an autosomal recessive disorder characterized by global developmental delay apparent from infancy or early childhood. The severity of the disorder is highly variable. Affected individuals show impaired intellectual development and motor delay associated with either severe hypotonia or hypertonia and spasticity. Most affected individuals have skeletal defects and dysmorphic facial features. Some may have ocular or auditory problems, peripheral neuropathy, behavioral abnormalities, and nonspecific findings on brain imaging (Kurolap et al., 2022).|OMIM|N|
C5676966|Ovarian dysgenesis-10 (ODG10) is characterized by primary amenorrhea and absent puberty. The uterus is small and prepubertal, and ovaries are streak or not visualized on ultrasound (McGlacken-Byrne et al., 2022).
Mutation in the ZSWIM7 gene also causes male infertility due to spermatogenic failure (SPGF71; 619831).
For a general phenotypic description and discussion of genetic heterogeneity of ovarian dysgenesis, see ODG1 (233300).|OMIM|N|
C5676967|3-Methylglutaconic aciduria (MGCA7) is an inborn error of metabolism characterized primarily by increased levels of 3-methylglutaconic acid (3-MGA) associated with variable neurologic deficits and neutropenia. The phenotype is highly variable: most patients have infantile onset of a severe progressive encephalopathy with various movement abnormalities and delayed psychomotor development. Other common variable features include seizures, recurrent infections due to neutropenia, anemia, and brain imaging abnormalities (Wortmann et al., 2021).
For a general phenotypic description and a discussion of genetic heterogeneity of 3-methylglutaconic aciduria, see MGCA1 (250950).|OMIM|N|
C5676968|Autosomal dominant isolated macrothrombocytopenia-2 (MACTHC2) is characterized by the finding of low platelet numbers and abnormally large platelets with irregular shapes. Affected individuals do not have increased bleeding episodes; macrothrombocytopenia is usually an incidental laboratory finding (Kimmerlin et al., 2022)
For a discussion of genetic heterogeneity of MACTHC, see MACTHC1 (613112).|OMIM|N|
C5676969|Intellectual developmental disorder with or without peripheral neuropathy (IDDPN) is an autosomal recessive neurologic disorder characterized by global developmental delay with mildly impaired intellectual development apparent from infancy or early childhood. Affected individuals have hypotonia and delayed walking with an unsteady gait and frequent falls. Some patients develop a progressive length-dependent sensorimotor peripheral neuropathy. Additional features may include dysarthria and subtle dysmorphic facial features (Diaz et al., 2020).|OMIM|N|
C5676970|Retinitis pigmentosa-93 (RP93) is characterized by mild to moderate rod-cone dystrophy with onset in the second or third decade of life. Patients have constricted visual fields with macular sparing and show mildly reduced visual acuity with mild to high myopia (Mejecase et al., 2019).
For a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000.|OMIM|N|
C5676971|Immunodeficiency-99 with hypogammaglobulinemia and autoimmune cytopenias (IMD99) is an autosomal recessive immunologic disorder characterized by the onset of recurrent sinopulmonary infections in early childhood. Laboratory studies reveal hypogammaglobulinemia with decreased memory B cells that show impaired class-switch recombination (CSR) and decreased somatic hypermutation (SHM). Due to abnormal antibody production and impaired self-tolerance, patients may develop autoimmune cytopenias, such as thrombocytopenia, or autoimmune features, such as vitiligo. There are also defects in the T-cell compartment (Kuhny et al., 2020).|OMIM|N|
C5676972|Childhood-onset neurodegeneration with progressive microcephaly (CONPM) is an autosomal recessive neurodevelopmental disorder characterized by global developmental delay apparent from infancy. The phenotype is highly variable: the most severely affected individuals have severe and progressive microcephaly, early-onset seizures, lack of visual tracking, and almost no developmental milestones, resulting in early death. Less severely affected individuals have a small head circumference and severely impaired intellectual development with poor speech and motor delay. Additional features may include poor overall growth, axial hypotonia, limb hypertonia with spasticity, undescended testes, and cerebral atrophy with neuronal loss (Lam et al., 2019 and Vanoevelen et al., 2022).|OMIM|N|
C5676973|Progressive familial intrahepatic cholestasis-9 (PFIC9) is an autosomal recessive disorder characterized by onset of cholestasis associated with increased serum gamma-glutamyltransferase (GGT) in infancy or early childhood. Affected individuals have hepatosplenomegaly and may have portal hypertension or upper gastrointestinal bleeding. Liver biopsy shows fibrosis, cirrhosis, bile duct proliferation, and abnormal bile duct morphology. The disorder is thought to result from ciliary defects in cholangiocytes, consistent with a ciliopathy that appears to be restricted to the liver. Treatment with ursodeoxycholic acid (UDCA) or liver transplant is effective (Luan et al., 2021).
For a discussion of genetic heterogeneity of progressive familial intrahepatic cholestasis, see PFIC1 (211600).|OMIM|N|
C5676974|Hypomyelinating leukodystrophy-24 (HLD24) is an autosomal dominant disorder characterized by global developmental delay and neurologic deterioration (Segawa et al., 2021).
For a general phenotypic description and a discussion of genetic heterogeneity of HLD, see 312080.|OMIM|N|
C5676975|Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities (NEDHISB) is characterized by global developmental delay apparent since infancy or early childhood, hypotonia with delayed motor development, impaired intellectual development with significant speech delay or absent speech, and variable behavioral abnormalities, such as autism, repetitive actions, or aggression. About two-thirds of patients have early-onset seizures that range from intractable to self-limiting. More variable features include nonspecific dysmorphic facial features, distal skeletal anomalies, and brain imaging abnormalities. The phenotypic manifestations and severity are highly variable (Muir et al., 2021).|OMIM|N|
C5676976|Abnormal thyroid hormone metabolism-2 (THMA2) is characterized by elevated serum reverse triiodothyronine (rT3) levels and rT3/T3 ratios. Some patients exhibit resistance to thyroid-stimulating hormone (TSH; see 188540) with mildly elevated TSH levels, and elevated cholesterol levels have been observed (Franca et al., 2021).
For a discussion of genetic heterogeneity of abnormal thyroid hormone metabolism, see THMA1 (609698).|OMIM|N|
C5676977|Autoinflammatory-pancytopenia syndrome (AIPCS) is an autosomal recessive disorder characterized by severe anemia and thrombocytopenia apparent from early infancy, hepatosplenomegaly, and recurrent fevers associated with a hyperinflammatory state. Additional systemic features may include chronic diarrhea, proteinuria with renal disease, liver fibrosis with elevated liver enzymes, deforming arthropathy, and vasculitic skin lesions. Some patients may have motor delay or learning difficulties associated with subcortical white matter lesions on brain imaging. Laboratory studies show increased levels of proinflammatory cytokines and increased expression of interferon-stimulated genes (ISGs), consistent with a type I interferonopathy (Rodero et al., 2017). Treatment with a JAK (see 147795) inhibitor (baricitinib) may be effective (Hong et al., 2020).|OMIM|N|
C5676978|Autosomal recessive spinocerebellar ataxia-32 (SCAR32) is a neurologic disorder characterized by the onset of gait ataxia in the second or third decades of life. The disorder is slowly progressive. Other classic features include upper limb ataxia, oculomotor signs, dysphagia, and dysarthria. Some patients may have hyper- or hypokinetic movement abnormalities. Brain imaging shows cerebellar atrophy (Rebelo et al., 2021).|OMIM|N|
C5676979|Childhood-onset remitting leukodystrophy (CORLK) is a very rare autosomal dominant disorder characterized in some patients by onset of a metabolic crisis at the end of the first year of life that leads to widespread demyelination and leukodystrophy on brain imaging and a dramatic loss of developmental abilities. Affected children recover over the following several months, regaining normal development accompanied by remyelination. Not all patients have documented acute episodes of metabolic demyelination in infancy, but individuals with the FBP2 mutation show persistent white matter abnormalities on brain imaging that resemble the abnormalities observed in infants with the acute crisis. Other neurologic disturbances that may or may not be related to the FBP2 mutation have been observed, including psychiatric manifestations, seizures, and mild learning difficulties (Gizak et al., 2021).|OMIM|N|
C5676980|Spermatogenic failure-72 (SPGF72) is characterized by male infertility due to multiple morphologic abnormalities of the flagella (MMAF), including coiled, short, angulated, absent, and irregular-caliber flagella, resulting in lack of sperm motility (Ni et al., 2020).
For a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).|OMIM|N|
C5676981|Progressive familial intrahepatic cholestasis-10 (PFIC10) is an autosomal recessive liver disorder characterized by the onset of symptoms in the first months or years of life. Features include jaundice, pruritis, and hepatomegaly associated with increased serum bilirubin and bile acids. Liver transaminases may be variably increased, but gamma-glutamyltransferase (GGT; see 612346) is normal. Liver biopsy shows hepatocellular and canalicular cholestasis with giant cell changes. Although rare patients may have episodes of diarrhea and even show endoscopic features of microvillus inclusion disease (MVID), this tends to be transient and cholestasis dominates the clinical picture (Gonzales et al., 2017; Cockar et al., 2020).
For a discussion of genetic heterogeneity of progressive familial intrahepatic cholestasis, see PFIC1 (211600).|OMIM|N|
C5676982|Punctiform and polychromatic pre-Descemet corneal dystrophy (PPPCD) is characterized by the presence of tiny round multicolored opacities in the posterior stroma of the cornea, immediately anterior to the Descemet membrane. Affected individuals are typically asymptomatic and experience no visual disturbance (Alio del Barrio et al., 2020).|OMIM|N|
C5676983|Immunodeficiency-101 (varicella zoster virus-specific) (IMD101) is an autosomal dominant immunologic condition characterized by reactivation of varicella zoster virus (VZV) infection in adulthood after primary childhood infection with VZV. The viral reactivation manifests as central nervous system vasculitis with stroke-like episodes and lacunar infarcts on brain imaging. Features include headache, hemiparesis, impaired balance, and other neurologic signs. The disorder results from an impaired innate immune response specifically to VZV DNA. Affected individuals do not have increased susceptibility to other infections. Treatment with acyclovir is effective (Carter-Timofte et al., 2018).|OMIM|N|
C5676984|Parenti-Mignot neurodevelopmental syndrome (PMNDS) is an autosomal dominant neurodevelopmental disorder frequently characterized by impaired intellectual development, speech delay, motor delay, behavioral problems, and epilepsy (Parenti et al., 2021).|OMIM|N|
C5676986|Neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures (NEDMHS) is an autosomal recessive disorder characterized by global developmental delay and impaired intellectual development apparent from infancy. Affected individuals have hypotonia with poor or absent motor skills, feeding difficulties with poor overall growth, microcephaly, mild dysmorphic features, and early-onset seizures. Additional variable features, such as nystagmus, cortical blindness, and spasticity, may also occur. Patients with this disorder tend to have recurrent respiratory infections, likely due to aspiration, that may lead to death in childhood (Arnadottir et al., 2022).|OMIM|N|
C5676987|Dentici-Novelli neurodevelopmental syndrome (DENNED) is an autosomal recessive disorder characterized by global developmental delay with impaired intellectual development apparent from infancy. The severity of the phenotype is highly variable: more severely affected individuals have axial hypotonia, peripheral spasticity, microcephaly, early-onset seizures, brain imaging abnormalities, and are unable to walk or speak. Those with a less severe phenotype may achieve some developmental goals and show less severe intellectual disability (Dentici et al., 2022).|OMIM|N|
C5676988|Spermatogenic failure-73 (SPGF73) is characterized by male infertility, resulting from nonobstructive azoospermia due to meiotic arrest (Li et al., 2022).
For a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).|OMIM|N|
C5676989|Meckel syndrome-14 (MKS14) is a lethal disorder characterized by occipital encephalocele, postaxial polydactyly of the hands and feet, and polycystic kidneys. Stillbirth has been reported, as well as death within hours in a live-born affected individual (Shaheen et al., 2016; Ridnoi et al., 2019).
For a general phenotypic description and discussion of genetic heterogeneity of Meckel syndrome, see MKS1 (249000).|OMIM|N|
C5676990|Neurodevelopmental disorder with poor growth and skeletal anomalies (NEDGS) is an autosomal recessive disorder characterized by global developmental delay and impaired intellectual development apparent from infancy. Affected individuals have hypotonia, delayed walking, poor or absent speech, and variable skeletal anomalies. More variable features include seizures, nonspecific dysmorphic facial features, oculomotor apraxia, and nonspecific brain imaging abnormalities (Iqbal et al., 2021).|OMIM|N|
C5676991|Developmental and epileptic encephalopathy-102 (DEE102) is an autosomal recessive neurodevelopmental disorder characterized by global developmental delay and severe to profoundly impaired intellectual development with inability to walk or speak. Most patients have onset of variable types of seizures within the first year of life, and the seizures tend to be refractory. Additional features include progressive microcephaly, visual impairment, axial hypotonia, peripheral hypertonia, and nonspecific brain imaging abnormalities (Marafi et al., 2022).
For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350.|OMIM|N|
C5676992|Childhood- or juvenile-onset osteoporosis with developmental delay (OPDD) is characterized by evidence of osteopenia or osteoporosis, with recurrent fractures following minor trauma in some patients. Developmental delay is variable, and includes mild intellectual or learning disabilities as well as wide-based gait and/or gross motor delays. Microcephaly is present in some patients (Marom et al., 2021).|OMIM|N|
C5676993|Renal hypodysplasia/aplasia-4 (RHDA4) is characterized by bilateral renal agenesis, with severely reduced to absent amniotic fluid during pregnancy. Patients exhibit the Potter sequence, including flattened nose, ear anomalies, and receding chin, as well as limb contractures and joint dislocations in some patients (Arora et al., 2021; Al-Shamsi et al., 2022).
For a general phenotypic description and discussion of genetic heterogeneity of renal hypoplasia/dysplasia, see RHDA1 (191830).|OMIM|N|
C5676994|Holoprosencephaly-14 (HPE14) is an autosomal recessive condition characterized by severe developmental delay secondary to brain malformations within the holoprosencephaly spectrum (Drissi et al., 2022).
For general phenotypic information and a discussion of genetic heterogeneity of holoprosencephaly, see HPE1 (236100).|OMIM|N|
C5676995|Dilated cardiomyopathy-2G (CMD2G) is characterized by early-onset severe dilated cardiomyopathy that progresses rapidly to heart failure in the neonatal period without evidence of intervening hypertrophy. Cardiac tissue exhibits markedly shortened thin filaments, disorganized myofibrils, and reduced contractile force generation, resulting in the severe ventricular dysfunction observed. There is no evidence of skeletal muscle hypertrophy (Ahrens-Nicklas et al., 2019).
For a general phenotypic description and a discussion of genetic heterogeneity of dilated cardiomyopathy, see 115200.|OMIM|N|
C5676996|Hepatorenocardiac degenerative fibrosis (HRCDF) is a primarily fibrotic disease affecting the liver, kidney, and heart, with considerable variability in disease onset and expression. Affected individuals develop degenerative hepatic fibrosis in childhood or early adulthood, with variable later onset of fibrocystic kidney disease and hypertrophic cardiomyopathy (Devane et al., 2022).|OMIM|N|
C5676997|Childhood-onset biotin-responsive peripheral motor neuropathy (COMNB) is an autosomal recessive disorder characterized predominantly by the onset of distal muscle weakness and atrophy late in the first decade of life. The disorder predominantly affects the upper limbs and hands, resulting in difficulties with fine motor skills. Some patients may have lower limb involvement, resulting in gait difficulties. Electrophysiologic studies and muscle biopsy are consistent with chronic denervation with axonal and demyelinating features. Rare patients may have additional neurologic signs, including spasticity, ataxia, and cerebellar signs. Sensation is intact, and patients have normal cognitive development. Treatment with biotin, pantothenic acid, and lipoic acid may result in clinical improvement (Holling et al., 2022).|OMIM|N|
C5676998|Neurodevelopmental disorder with language delay and seizures (NEDLDS) is an autosomal recessive disorder characterized by global developmental delay with mild to severely impaired intellectual development and speech delay with poor or absent language. Affected individuals develop early-onset seizures that are usually well-controlled with medication. Additional features may include axial hypotonia, peripheral hypertonia, hypothyroidism, and nonspecific dysmorphic features or brain imaging abnormalities (Lu et al., 2022).|OMIM|N|
C5676999|Pontocerebellar hypoplasia type 17 (PCH17) is a severe autosomal recessive developmental disorder characterized by neonatal hypotonia, severe feeding difficulties, and respiratory insufficiency. Brain imaging shows cerebellar and brainstem hypoplasia. Most affected individuals die in infancy. Those who survive show variable developmental delay. Other features of the disorder include distal hypertonia, poor overall growth, visual defects, autonomic problems, dysmorphic features, and seizures (Coolen et al., 2022).
For a phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1A (607596).|OMIM|N|
C5677000|Autosomal dominant intellectual developmental disorder-66 (MRD66) is characterized by global developmental delay with mildly to moderately impaired intellectual development and mild speech delay. The phenotype and severity are highly variable. Some patients have behavioral problems or autism spectrum disorder, and about 50% have variable types of seizures. Additional features may include nonspecific dysmorphic facial features, tall or short stature, and mild skeletal anomalies (Rahimi et al., 2022).|OMIM|N|
C5677001|Intellectual developmental disorder with language impairment and early-onset dopa-responsive dystonia-parkinsonism (IDLDP) is a neurodevelopmental disorder characterized by global developmental delay affecting motor, cognitive, and speech domains apparent in early childhood or infancy. Some patients may have normal early development in infancy before symptom onset. There is phenotypic heterogeneity and the severity is highly variable; less severely affected individuals have only mild deficits and are able to attend special schools. About half of patients develop various types of seizures that may be refractory or responsive to treatment. Most patients also show movement abnormalities, often hypotonia early in the disease course with later development of dopa-responsive dystonia or parkinsonism (Ramos et al., 2019, Wirth et al., 2020; Singh et al., 2020).|OMIM|N|
C5677002|Developmental and epileptic encephalopathy-103 (DEE103) is characterized by onset of various types of seizures in the first year of life, most of which are refractory to treatment. Affected individuals show global developmental delay with impaired intellectual development ranging from mild to severe. Additional features may include hypotonia, ataxia, and behavioral abnormalities, including autism and hyperactivity (Schwarz et al., 2022).
For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350.|OMIM|N|
C5677003|Childhood-onset dystonia-35 (DYT35) is an autosomal recessive neurologic disorder characterized by the onset of a dystonic movement disorder in the first year of life. Symptoms may be partially responsive to L-DOPA treatment. Neurodevelopment is otherwise normal (Sleiman et al., 2022).|OMIM|N|
C5677004|Neurodevelopmental disorder with dystonia and seizures (NEDDS) is a severe autosomal recessive disorder characterized by hypotonia and dystonic posturing apparent from early infancy. Affected individuals show global developmental delay with inability to walk or speak and have profoundly impaired intellectual development, often with behavioral abnormalities. Additional features may include other extrapyramidal movements, seizures or seizure-like activity, and cerebellar hypoplasia on brain imaging (Sleiman et al., 2022).|OMIM|N|
C5677005|Immunodeficiency-105 (IMD105) is an autosomal recessive disorder characterized by onset of recurrent infections in early infancy. Manifestations may include pneumonia, dermatitis, and lymphadenopathy. B-cell lymphoma was reported in 1 patient. Laboratory studies show decreased or absent numbers of nonfunctional T cells, normal or increased levels of B cells, hypogammaglobulinemia, and normal or low NK cells. The disorder is caused by a deficiency of transmembrane protein CD45 (PTPRC) on leukocytes, which plays an important role in T- and B-cell development (Cale et al., 1997; Kung et al., 2000).
For a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive SCID, see 601457.|OMIM|N|
C5677006|Autosomal dominant intellectual developmental disorder-67 (MRD67) is characterized by global developmental delay with variably impaired intellectual development apparent from infancy or early childhood. Additional features may include behavioral abnormalities, such as autism spectrum disorder (ASD) and ADHD, as well as language and sleeping difficulties. Brain imaging is normal (Ismail et al., 2022).|OMIM|N|
C5677007|Autosomal recessive intellectual developmental disorder-76 (MRT76) is characterized by impaired intellectual development, absent speech, poor sleep, abnormal EEG with seizures, normal brain imaging, and precocious puberty (Ismail et al., 2022).|OMIM|N|
C5677008|Autosomal dominant intellectual developmental disorder-68 (MRD68) is characterized by developmental delay/intellectual disability, microcephaly, poor growth, feeding difficulties, and dysmorphic features. Some patients may have autism spectrum disorder or attention deficit-hyperactivity disorder (ADHD) (Cif et al., 2020).|OMIM|N|
C5677009|Immunodeficiency-106 (IMD106) is an autosomal recessive immunologic disorder characterized by increased susceptibility to viral infections beginning in infancy or early childhood. Some patients present with recurrent respiratory infections or other viral infections. In many cases, the susceptibility to viral infections due to IMD106 only becomes apparent after initial vaccination with live attenuated viral (LAV) vaccines, most notably MMR and yellow fever. A subset of IMD106 patients who demonstrate adverse reactions to MMR or other LAV vaccinations develop a severe acute hyperinflammatory response reminiscent of hemophagocytic lymphohistiocytosis (HLH) and may show encephalopathy, acute respiratory distress syndrome, and multiorgan failure. However, some patients with IMD106 tolerate MMR vaccination without sequelae. IFNAR1 deficiency may also predispose to severe respiratory infection with SARS-CoV-2 and to herpes simplex virus-1 (HSV1) encephalitis (HSE). The disorder results from an impaired type I interferon signaling response (Bastard et al., 2022).|OMIM|N|
C5677010|Spermatogenic failure-74 (SPGF74) is characterized by nonobstructive azoospermia and male infertility due to complete meiotic arrest at the spermatocyte zygotene or pachytene stage. Some men exhibit reduced testicular volume and/or reduced testosterone level (Wyrwoll et al., 2022).
For a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).|OMIM|N|
C5677011|Premature ovarian failure-20 (POF20) is characterized by female infertility due to secondary amenorrhea. Some patients exhibit atrophic ovaries lacking follicles (Carlosama et al., 2017; Akbari et al., 2021; Wyrwoll et al., 2022).
For a general phenotypic description and a discussion of genetic heterogeneity of POF, see POF1 (311360).|OMIM|N|
C5677012|Carey-Fineman-Ziter syndrome-2 (CFZS2) is an autosomal recessive disorder characterized by weakness of the facial musculature, hypomimic facies, increased overbite, micrognathia, and facial dysmorphism. Other features may include failure to thrive, axial hypotonia, and progressive scoliosis (Ramirez-Martinez et al., 2022).
For a discussion of genetic heterogeneity of Carey-Fineman-Ziter syndrome, see CFZS1 (254940).|OMIM|N|
C5677013|Waardenburg syndrome type 2F (WS2F) is characterized by congenital or neonatal-onset sensorineural hearing loss and altered pigmentation of the iris, hair, and skin. Variable expressivity has been reported, even among patients with the same mutation (Ogawa et al., 2017; Vona et al., 2022).
For a general phenotypic description and discussion of genetic heterogeneity of WS2, as well as a brief description of other clinical variants of Waardenburg syndrome (WS1, 193500; WS3, 148820; and WS4, 277580), see WS2A (193510).|OMIM|N|
C5677014|Spermatogenic failure-75 (SPGF75) is characterized by male infertility due to nonobstructive azoospermia resulting from maturation arrest at the spermatocyte stage (Krausz et al., 2020; Yao et al., 2021).
For a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).|OMIM|N|
C5677016|Tessadori-Bicknell-van Haaften neurodevelopmental syndrome-4 (TEBIVANED4) is characterized by global developmental delay with poor overall growth, variably impaired intellectual development, learning difficulties, distal skeletal anomalies, and dysmorphic facies. Some patients have visual or hearing deficits. The severity and manifestations of the disorder are highly variable (Tessadori et al., 2022).
For a discussion of genetic heterogeneity of TEBIVANED, see TEBIVANED1 (619758).|OMIM|N|
C5677017|Dworschak-Punetha neurodevelopmental syndrome (DWOPNED) is an autosomal recessive disorder characterized mainly by global developmental delay and mildly impaired intellectual development (IQ range 77 to 85), often with behavioral abnormalities, including autism spectrum disorder and hyperactivity. Some affected individuals may have only speech delay or behavioral manifestations. More variable additional features include optic disc hypoplasia, ptosis, hypo- or hyperpigmented skin lesions, nonspecific dysmorphic facial features, and brain imaging abnormalities of the ventricles or corpus callosum. Of note, not all patients exhibit all features, and there is significant inter- and intrafamilial phenotypic variability (Dworschak et al., 2021).|OMIM|N|
C5677018|Attention deficit-hyperactivity disorder-8 (ADHD8) is a severe early-childhood neuropsychiatric disorder characterized by a persistent pattern of hyperactive behavior and impulsivity (Halperin et al., 2021).
For a general phenotypic description and a discussion of genetic heterogeneity of attention deficit-hyperactivity disorder, see 143465.|OMIM|N|
C5677019|Aplasia cutis congenita and ectrodactyly skeletal syndrome (ACCES) is characterized by highly variable expressivity, even within the same family. Most patients exhibit scalp defects, whereas ectrodactyly is less common; however, more variable and less obvious digital and skeletal anomalies are often present. Early growth deficiency and neurodevelopmental delay are also commonly seen (Schnur et al., 2021).|OMIM|N|
C5677020|Neurocardiofaciodigital syndrome (NCFD) is characterized by severe developmental delay, variable brain anomalies, congenital heart defects, dysmorphic facial features, and a distinctive type of synpolydactyly with a supernumerary hypoplastic digit between the fourth and fifth digits of the hands and/or feet. Other features include eye abnormalities, hearing impairment, and electroencephalogram anomalies (summary by Horn et al., 2021).|OMIM|N|
C5677021|Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome-1 (CFSMR1) is characterized by cranial involvement with macrocrania at birth, brachycephaly, anomalies of middle fossa structures including hypoplasia of corpus callosum, enlargement of septum pellucidum, and dilated lateral ventricles, as well as cortical atrophy and hypodensity of the gray matter. Facial dysmorphisms include flat face, hypertelorism, epicanthal folds, synophrys, broad nasal bridge, cleft lip and cleft palate, and low-set posteriorly rotated ears. Patients also exhibit short neck and multiple costal and vertebral anomalies. The face is rather characteristic, and various authors have consistently reported affable/friendly personality, despite intellectual delay (summary by Alanay et al., 2014).
Genetic Heterogeneity of Craniofacial Dysmorphism, Skeletal Anomalies, and Impaired Intellectual Development Syndrome
CFSMR2 (616994) is caused by mutation in the RAB5IF gene (619960) on chromosome 20q11.|OMIM|N|
C5677022|Chilton-Okur-Chung neurodevelopmental syndrome (CHOCNS) is characterized mainly by global developmental delay with variably impaired intellectual development and occasional speech delay. Most patients have behavioral abnormalities, including autism spectrum disorder, ADHD, and aggression. About half of patients have dysmorphic facial features, and about half have nonspecific brain abnormalities, including thin corpus callosum. Rare involvement of other organ systems may be present. At least 1 child with normal development at age 2.5 years has been reported (Chilton et al., 2020).|OMIM|N|
C5677030|Intermediate primary alphalipoproteinemia-2 is an autosomal dominant condition characterized by half-normal plasma levels of apoA-I and HDL-C (Yamakawa-Kobayashi et al., 1999). Affected individuals may develop xanthomas and corneal opacities, but most do not have increased cardiovascular risk (summary by Rader and deGoma, 2012).
For a discussion of genetic heterogeneity of hypoalphalipoproteinemia, see 604091.|OMIM|N|
C5677056|X-linked intellectual disability-cubitus valgus-dysmorphism syndrome is characterised by moderate intellectual deficit, marked <i>cubitus valgus</i>, mild microcephaly, a short philtrum, deep-set eyes, downslanting palpebral fissures and multiple nevi. Less than ten individuals have been described so far. Transmission is thought to be X-linked recessive.|ORDO|N|
C5679569|Diazoxide-resistant diffuse hyperinsulism (DRDH) is a form of Diazoxide resistant hyperinsulinism (see this term) characterized by recurrent episodes of profound hypoglycemia caused by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) due to diffuse involvement of pancreas that is unresponsive to medical treatment with diazoxide, often necessitating near total/total pancreatectomy.|ORDO|N|
C5679572|A rare non-acquired pituitary hormone deficiency characterized by growth deficiency, delayed bone age, and short stature of variable severity and age of onset, and with variable response to treatment with recombinant human growth hormone, depending on the respective subtype of the disease. Hormone deficiency may be quantitative or qualitative in nature.|ORDO|N|
C5679573|A group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis.|ORDO|N|
C5679574|A mild form of hemophilia B characterized by a small deficiency of factor IX (biological activity between 5 and 40&nbsp;IU/dL) leading to abnormal bleeding as a result of minor injuries or following trauma, surgery or tooth extraction. Spontaneous hemorrhages do not occur. The condition may affect males and female carriers of disease-causing mutations.|ORDO|N|
C5679575|A moderately severe form of hemophilia B characterized by factor IX deficiency (biological activity 1-5 IU/dL) leading to abnormal bleeding as a result of minor injuries or following trauma, surgery or tooth extraction. Spontaneous hemorrhages are rare. The condition primarily affects males but may also be observed in female carriers of disease-causing mutations.|ORDO|N|
C5679576|A severe form of hemophilia B characterized by a large deficiency of factor IX (biological activity <1 IU/dL) leading to frequent spontaneous hemorrhage and abnormal bleeding as a result of minor injuries or following trauma, surgery or tooth extraction. It primarily affects males but may also be observed in female carriers of disease-causing mutations.|ORDO|N|
C5679577|A rare T-B+ severe combined immunodeficiency characterized by markedly decreased numbers of T-cells and normal or increased numbers of B-cells and natural killer (NK) cells. Patients generally present in infancy with recurrent infections, failure to thrive, fever, diarrhea, and dermatitis.|ORDO|N|
C5679578|A rare T-B+ severe combined immunodeficiency characterized by a T cell-negative, B cell-positive, natural killer (NK) cell-positive immune phenotype. Patients present in infancy or early childhood with recurrent infections. Clinical manifestations may vary in severity depending on the underlying molecular defect, resulting in early death without bone marrow transplantation in some patients.|ORDO|N|
C5679579|A rare T-B+ severe combined immunodeficiency characterized by markedly decreased numbers of T-cells and normal or increased numbers of B-cells and natural killer (NK) cells. Hypogammaglobulinemia has also been reported. Patients generally present in infancy with recurrent infections, failure to thrive, rash, fever, hepatosplenomegaly, lymphadenopathy, and pancytopenia.|ORDO|N|
C5679583|Acute myeloid leukemias that do not fulfill the criteria for inclusion in the group of acute myeloid leukemias which have recurrent genetic abnormalities or myelodysplastic changes, or are therapy-related. This category includes entities classified according to the French-American-British classification scheme.|MONDO|N|
C5679590|A rare familial cardiomyopathy characterized by the dilation of left ventricle and progressively impairing of systolic ventricular function, in the absence of abnormal loading conditions or coronary artery disease sufficient to cause global systolic impairment. The disease may cause heart failure or arrhythmia. The disease is isolated when no additional atypical cardiac or extracardiac manifestations are present.|ORDO|N|
C5679591|Male infertility due to globozoospermia is a male infertility due to sperm disorder characterized by the presence, in sperm, of a large majority of round-headed spermatozoa that lack the acrosome and have an aberrant nuclear membrane and midpiece defects. The acrosomeless spermatozoa is not able to penetrate the zona pellucida and thus fertilization failures, even with intracytoplasmic sperm injection, are frequent.|ORDO|N|
C5679594|Hereditary photodermatoses are a spectrum of rare photosensitive disorders that are often caused by genetic deficiency or malfunction of various components of the DNA repair pathway. This results clinically in extreme photosensitivity, with many syndromes exhibiting an increased risk of cutaneous malignancies.|MONDO|N|
C5679607|A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of slowly progressive night blindness, skeletal abnormalities (sloping shoulders, joint hyperextensibility, minor radiological anomalies) and characteristic facial features (periorbital anomalies, malar flatness, retrognathia). Additional manifestations include myopia and extinguished electroretinograms.|SNOMEDCT_US|N|
C5679608|A dystonia (disease) that is not part of a larger syndrome.|MONDO|N|
C5679612|Joubert syndrome (JS) and related disorders (JSRD) are a group of developmental delay/multiple congenital anomaly syndromes in which the mandatory feature is the ``molar tooth sign'' (MTS), a complex midbrain-hindbrain malformation recognizable on brain imaging. The MTS is characterized by cerebellar vermis hypodysplasia, thickening and malorientation of the superior cerebellar peduncles and abnormally deep interpeduncular fossa.|ORDO|N|
C5679613|A rare disorder of sex development (DSD) characterised by histologically confirmed testicular and ovarian tissue in an individual with a 46,XX karyotype. The cause is not elucidated for the majority of cases. A small proportion of individuals have a translocation of a Y chromosome fragment, including the SRY gene, to an X or another chromosome but most individuals (65%) are SRY negative. Some individuals may have a chromosomal mosaicism or a chimerism that results in the presence of Y chromosome containing cells in the gonad. The majority of cases arise as de novo gene variants.|SNOMEDCT_US|N|
C5679616|A very rare form of hypophosphatasia characterized by prenatal skeletal manifestations (limb shortening and bowing) that slowly resolve spontaneously and later may develop into the moderate childhood or adult forms of the disease.|ORDO|N|
C5679618|A severe form of citrullinemia type 1 characterized biologically by hyperammonemia and clinically by progressive lethargy, poor feeding and vomiting, seizures and possible loss of consciousness, within one to a few days of birth, with variable signs of increased intracranial pressure. The condition can lead to significant neurologic deficits.|ORDO|N|
C5679624|A rare developmental defect during embryogenesis disorder with characteristics of spinal dysraphism, cleft lip and palate, limb reduction defects and anencephaly.|SNOMEDCT_US|N|
C5679626|A rare autosomal ichthyosis syndrome with prominent neurologic signs and the association of congenital ichthyosis with severe developmental delay, microcephaly, spastic tetraplegia, sensorineural hearing impairment, athetosis, and myoclonus. Marked epileptic discharges with occurrence of tonic spasms have also been reported. Cerebral MRI shows diffuse cortical atrophy.|SNOMEDCT_US|N|
C5679630|A rare systemic disease characterized by febrile illness (body temperature >38.3°C on several occasions) or inflammation (elevated serum C-reactive protein and erythrocyte sedimentation rate) lasting at least three weeks and for which no specific diagnosis is achieved despite extended diagnostics.|ORDO|N|
C5679646|An inherited metabolic disease that is has its basis in the disruption of tricarboxylic acid cycle.|MONDO|N|
C5679668|Chromosome 7p deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the short arm (p) of chromosome 7. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 7p deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.|MONDO|N|
C5679671|A cytogenetic abnormality that refers to the allelic loss of all or part of the short arm of chromosome 17.|MONDO|N|
C5679674|Chromosome 1q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on thelong arm (q) of chromosome 1. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 1q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.|MONDO|N|
C5679676|Chromosome 7q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 7. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 7q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.|MONDO|N|
C5679708|Chromosome 6q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 6. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 6q duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. In most cases, chromosome 6q duplication occurs de novo or is inherited from a parent with a chromosomal rearrangement such as a balanced translocation. Rarely, it is inherited from a parent with the same duplication. Treatment is based on the signs and symptoms present in each person.|MONDO|N|
C5679720|Chromosome 3p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 3. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 3p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Chromosome 3p duplication can be de novo or inherited from a parent with a balanced translocation. Treatment is based on the signs and symptoms present in each person.|MONDO|N|
C5679721|Chromosome 6p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 6. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 6p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. This condition can occur sporadically or be inherited from aparent who is either mildy affected (has the deletion) or carries a balanced translocation. Treatment is based on the signs and symptoms present in each person.|MONDO|N|
C5679732|Autosomal recessive form of intermediate Charcot-Marie-Tooth disease.|MONDO|N|
C5679752|A interstitial lung disease that occurs during childhood.|MONDO|N|
C5679756|Pulmonary arterial hypertension associated with another disease is a group of conditions that lead to PAH (see this term); connective tissue diseases (lupus erythematosus, systemic sclerosis and mixed connective tissues disease), congenital heart disease (Eisenmenger syndrome), HIV infection, portal hypertension, schistosomiasis and chronic hemolytic anemia (see these terms),which is characterized by elevated pulmonary arterial resistance leading to right heart failure that is progressive and potentially fatal.|ORDO|N|
C5679761|A rare genetic systemic disease characterized by adult onset, progressive sensorimotor and autonomic neuropathy and infiltrative cardiomyopathy. Neurological involvement usually starts with sensory loss in the extremities and progresses with motor neuropathy. Cardiomyopathy presents with rhythm abnormalities and heart failure. The disease also frequently manifests with a range of additional clinical signs and symptoms due to associated ocular, renal, central nervous system and gastrointestinal involvement.|ORPHANET|N|
C5679764|Oromandibular-limb hypogenesis syndromes (OLHS) are a group of dysmorphic complexes (including Charlie M syndrome, Hanhart syndrome and glossopalatine ankylosis; see these terms) characterized by the association of severe asymmetric limb defects (primarily involving distal segments) and abnormalities of the oral cavity and mandible (hypoglossia, aglossia, micrognathia, glossopalatine ankylosis, cleft palate, and gingival anomalies).|ORDO|N|
C5679775|Genetic prion disease generally manifests with cognitive difficulties, ataxia, and myoclonus (abrupt jerking movements of muscle groups and/or entire limbs). The order of appearance and/or predominance of these features and other associated neurologic and psychiatric findings vary. The three major phenotypes of genetic prion disease are genetic Creutzfeldt-Jakob disease (gCJD), fatal familial insomnia (FFI), and Gerstmann-Sträussler-Scheinker (GSS) syndrome. Although these phenotypes display overlapping clinical and pathologic features, recognition of these phenotypes can be useful when providing affected individuals and their families with information about the expected clinical course. The age at onset typically ranges from 50 to 60 years. The disease course ranges from a few months in gCJD and FFI to a few (up to 4, and in rare cases up to 10) years in GSS syndrome.|GeneReviews|N|
C5679776|The connatal form of Pelizaeus-Merzbacher disease (PMD) is the most severe form of PMD (see this term).|ORDO|N|
C5679777|A rare subtype of holoprosencephaly characterized by midline fusion limited to the septal and/or preoptic regions of the telencephalon without a significant frontal neocortical fusion. Midline craniofacial malformations are generally mild and include solitary median maxillary incisor and pyriform sinus stenosis. Other reported manifestations include language delay, learning difficulties, and behavioral disorders. Imaging reveals abnormal fornix, absent or hypoplasic anterior corpus callosum, and unpaired anterior cerebral artery.|ORDO|N|
C5679778|A form of congenital isolated hyperinsulism characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), recurrent episodes of profound hypoglycemia and resistance to medical management with diazoxide. Pancreatic involvement can be diffuse or focal.|ORDO|N|
C5679779|A rare primary organ-specific extranodal non-Hodgkin''s lymphoma (typically diffuse large B-cell lymphoma), simultaneously affecting the intraocular compartments (retina, vitreous, optic nerve, uvea and others) and the central nervous system (commonly the cerebellum, spinal cord or pia mater). The presenting symptoms vary depending on the localisation of the tumour and may include vitreous floaters or blurred vision, raised intracranial pressure (headache, vomiting, papilloedema) and/or focal neurological deficits.|SNOMEDCT_US|N|
C5679782|A microphthalmia that is part of a larger syndrome.|MONDO|N|
C5679783|A rare malignant germ cell tumour of ovary arising from germ cells in the ovary, frequently unilateral at diagnosis, usually presenting during adolescence with pelvic mass, fever, vaginal bleeding and acute abdomen, with certain subtypes being occasionally associated with isosexual precocity, virilisation, hyperthyroidism or carcinoid syndrome. Histologically they comprise the following: embryonal carcinoma, yolk sac tumour, polyembryoma and mixed germ cell tumour.|SNOMEDCT_US|N|
C5679784|A rare idiopathic inflammatory myopathy with a heterogeneous phenotype that has characteristics of myositis with at least one clinical and/or autoantibody overlap feature. Possible clinical overlap features include polyarthritis, Raynaud''s phenomenon, sclerodactyly, scleroderma (proximal to metacarpophalangeal joints), lung interstitial pneumonia, and/or clinical signs of systemic lupus erythematosus (SLE). The disorder is more common in adult women and is frequently associated with other connective tissue disorders.|SNOMEDCT_US|N|
C5679785|A benign epithelial ovarian tumor characterized by a usually unilateral, cystic, unilocular or multilocular lesion with a thin wall or septa and no intracystic solid portion on imaging. It often presents with abdominal pain or an asymptomatic abdominal mass and can be associated with ovarian torsion or malignant transformation.|SNOMEDCT_US|N|
C5679787|The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). The mild end of the spectrum includes the phenotypes of asymptomatic increase in serum concentration of creatine phosphokinase (CK) and muscle cramps with myoglobinuria. The severe end of the spectrum includes progressive muscle diseases that are classified as Duchenne/Becker muscular dystrophy when skeletal muscle is primarily affected and as DMD-associated DCM when the heart is primarily affected. Duchenne muscular dystrophy (DMD) usually presents in early childhood with delayed motor milestones including delays in walking independently and standing up from a supine position. Proximal weakness causes a waddling gait and difficulty climbing stairs, running, jumping, and standing up from a squatting position. DMD is rapidly progressive, with affected children being wheelchair dependent by age 12 years. Cardiomyopathy occurs in almost all individuals with DMD after age 18 years. Few survive beyond the third decade, with respiratory complications and progressive cardiomyopathy being common causes of death. Becker muscular dystrophy (BMD) is characterized by later-onset skeletal muscle weakness. With improved diagnostic techniques, it has been recognized that the mild end of the spectrum includes men with onset of symptoms after age 30 years who remain ambulatory even into their 60s. Despite the milder skeletal muscle involvement, heart failure from DCM is a common cause of morbidity and the most common cause of death in BMD. Mean age of death is in the mid-40s. DMD-associated DCM is characterized by left ventricular dilation and congestive heart failure. Females heterozygous for a DMD pathogenic variant are at increased risk for DCM.|GeneReviews|N|
C5679788|The clinical manifestations of LAMA2 muscular dystrophy (LAMA2-MD) comprise a continuous spectrum ranging from severe congenital muscular dystrophy type 1A (MDC1A) to milder late-onset LAMA2-MD. MDC1A is typically characterized by neonatal profound hypotonia, poor spontaneous movements, and respiratory failure. Failure to thrive, gastroesophageal reflux, aspiration, and recurrent chest infections necessitating frequent hospitalizations are common. As disease progresses, facial muscle weakness, temporomandibular joint contractures, and macroglossia may further impair feeding and can affect speech. In late-onset LAMA2-MD onset of manifestations range from early childhood to adulthood. Affected individuals may show muscle hypertrophy and develop a rigid spine syndrome with joint contractures, usually most prominent in the elbows. Progressive respiratory insufficiency, scoliosis, and cardiomyopathy can occur.|GeneReviews|N|
C5679790|A group of muscle diseases with basis in CAV3, which encodes caveolin-3, a muscle-specific membrane protein and the principal component of caveolae membrane in muscle cells in vivo. It is the only gene in which pathogenic variants are known to cause caveolinopathies. Sequence analysis identifies pathogenic variants in more than 99% of affected individuals|MONDO|N|
C5679802|An instance of ovarian cancer that is caused by an inherited modification of the individual's genome.|MONDO|N|
C5679804|A rare high-grade endometrial carcinoma characterized by diffuse, marked nuclear pleomorphism, typically exhibiting complex papillary and/or glandular growth patterns and showing abnormal p53 and diffuse p16 immunohistochemistry. The tumor typically arises in atrophic endometrium or in an endometrial polyp. Most patients present with postmenopausal bleeding. Extrauterine metastasis is present in 40-50% of surgically staged cases, most frequently involving lymph nodes or peritoneal sites and omentum. Patients with extrauterine spread have poor outcomes, while endometrium-limited carcinoma has a better prognosis.|ORDO|N|
C5679807|A sarcoma involving a uterine cervix.|MONDO|N|
C5679809|Congenital radioulnar synostosis is a rare bone disorder that may be isolated or associated with other disorders and that is characterized by failure of segmentation of the radius and ulna during embryological development, causing limited rotational movements of the forearm, which may lead to difficulties with some activities of daily living.|ORPHANET|N|
C5679814|A rare vascular anomaly characterized by congenital, progressive, circumscribed venous malformations (phlebectasias) primarily involving the upper and/or lower extremities, either on one side or bilaterally. The malformed vessels are visible beneath the skin. Veins of all sizes are affected. Pain, swelling, muscle wasting, and ulceration may occur.|ORDO|N|
C5679815|Mucopolysaccharidosis type 2, attenuated form (MPS2att), the less severe form of MPS2 (see this term), leads to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive facies, short stature, cardiorespiratory and skeletal findings. It is differentiated from mucopolysaccharidosis type 2, severe form (see this term) by the absence of cognitive decline.|ORDO|N|
C5679817|A rare hereditary sensory and autonomic neuropathy characterised by congenital insensitivity to pain, general hypaesthesia, diminished temperature sensitivity and hyperhidrosis. Motor function is preserved. Skin biopsy reveals lack of cutaneous innervation except for sensory and autonomic innervation of blood vessels and sweat glands.|SNOMEDCT_US|N|
C5679820|A form of pulmonary arterial hypertension (PAH) characterized by elevated pulmonary arterial resistance leading to right heart failure; it is progressive and potentially fatal. The majority cases have an identifiable genetic cause, but a significant proportion are idiopathic.|ORDO|N|
C5679828|A non-syndromic group of structural developmental eye defects characterized by the variable combination of microphthalmia, ocular coloboma, and anophthalmia, either unilaterally or bilaterally, with no other associated ocular conditions in the affected/contralateral eye, and no systemic anomalies.|ORDO|N|
C5679833|Hermansky-Pudlak syndrome without pulmonary fibrosis as a complication includes three relatively mild types (HPS-3, HPS-5 and HPS-6) of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by ocular or oculocutaneous albinism, bleeding diathesis and, in some cases, granulomatous colitis.|ORDO|N|
C5679834|Hermansky-Pudlak syndrome with pulmonary fibrosis as a complication includes two types (HPS-1 and HPS-4) of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, pulmonary fibrosis or granulomatous colitis.|ORDO|N|
C5679838|A rare skin disease with characteristics of a hamartomatous epidermal lesion presenting as a linear array of verrucous, hyperkeratotic papules that often coalesce into plaques and are formed along the lines of Blaschko. The condition is associated with involvement of other organ systems, mainly brain, eye and skeletal system. It is the result of mosaic post-zygotic mutations and most commonly presents at birth but may occur anytime during childhood rarely also in adulthood.|SNOMEDCT_US|N|
C5679839|Beta-thalassemias associated with hemoglobin (Hb) anomalies result in a variable clinical spectrum, ranging from asymptomatic to severe, depending on the severity of the thalassemia mutation and on the type of the Hb anomaly [hereditary persistence of fetal Hb, delta-beta-thalassemia, Hb C - beta-thalassemia, Hb E - beta-thalassemia and Hb S - beta-thalassemia (see these terms)].|ORDO|N|
C5679843|Infectious botulism is a form of botulism (see this term), a rare acquired neuromuscular junction disease, characterized by descending flaccid paralysis caused by botulinum neurotoxins (BoNTs), produced <i>in vivo</i> leading to toxin-mediated infection. Infectious botulism includes wound botulism and intestinal toxemia botulism (infant botulism and adult intestinal botulism; see these terms).|ORDO|N|
C5679845|A rare hereditary amyloidosis with primary renal involvement characterized by variable onset of renal insufficiency with edema, hypertension, proteinuria, and azotemia, eventually leading to end-stage renal disease. Amyloid cardiomyopathy and histopathological evidence of amyloid deposition in other organs, such as the spleen, liver, adrenal glands, and pancreas, among others, have also been described.|ORDO|N|
C5679846|A rare dystrophic epidermolysis bullosa (DEB) characterized by generalized blistering, milia formation, atrophic scarring, and dystrophic nails. Caused by mutations in the collagen VII gene (COL7A1; 3p21.31) that lead to an alteration of function or a reduction in the amount of collagen VII. The molecular defect impairs collagen VII assembly into anchoring fibrils which fix the basement membrane to the underlying dermis, causing reduced skin resistance to minor trauma. Transmission is autosomal dominant.|SNOMEDCT_US|N|
C5679849|Isolated gonadotropin-releasing hormone (GnRH) deficiency (IGD) is characterized by inappropriately low serum concentrations of the gonadotropins LH (luteinizing hormone) and FSH (follicle-stimulating hormone) in the presence of low circulating concentrations of sex steroids. IGD is associated with a normal sense of smell (normosmic IGD) in approximately 40% of affected individuals and an impaired sense of smell (Kallmann syndrome) in approximately 60%. IGD can first become apparent in infancy, adolescence, or adulthood. Infant boys with congenital IGD often have micropenis and cryptorchidism. Adolescents and adults with IGD have clinical evidence of hypogonadism and incomplete sexual maturation on physical examination. Adult males with IGD tend to have prepubertal testicular volume (i.e., <4 mL), absence of secondary sexual features (e.g., facial and axillary hair growth, deepening of the voice), decreased muscle mass, diminished libido, erectile dysfunction, and infertility. Adult females have little or no breast development and primary amenorrhea. Although skeletal maturation is delayed, the rate of linear growth is usually normal except for the absence of a distinct pubertal growth spurt.|GeneReviews|N|
C5679850|An atypical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease, characterized by an initial presentation of an isolated speech and language disorder (apraxia of speech, agrammatism, and phonemic errors) years before developing other motor features of PSP. Neuropathological characteristics includes tau pathology and neuronal loss in specific brain areas, especially in the temporal cortex and superior frontal gyrus.|ORDO|N|
C5679851|An atypical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease, characterized by progressive freezing of gait, speech and writing early in the disease course. Later, axial rigidity, and facial immobility can occur, and supranuclear downgaze paresis may emerge after a decade. Neuropathological characteristics include tau pathology and neuronal loss in specific brain areas, especially in the globus pallidus, subthalamic nucleus, and substantia nigra. The tau pathology is less widespread compared to the other PSP sub-types.|ORDO|N|
C5679854|A rare endocrine tumor of the appendix, seen twice as frequently in females than in males, and usually presenting before the fifth decade of life. It is usually asymptomatic when located in the tip of the appendix (without obstruction), but acute appendicitis is often associated.|ORDO|N|
C5679855|A rare beta-thalassemia associated with another hemoglobin anomaly characterized by the presence of the hemoglobin Lepore variant in association with beta-thalassemia. Clinical presentation is highly variable, depending on the type of beta-thalassemia, and ranges from severe hypochromic microcytic anemia and complete transfusion dependency to moderate, compensated anemia without a need for regular blood transfusions.|ORDO|N|
C5679859|A rare vascular anomaly with the association of capillary and venous malformations with hypotrophy or shortening of an affected limb due to alterations in bones, muscles, or subcutaneous tissues. In most cases, at least one of the findings is noted shortly after birth, while the other components become evident later in infancy.|SNOMEDCT_US|N|
C5679877|Chronic nonbacterial osteomyelitis (CNO), also known as chronic recurrent multifocal osteomyelitis (CRMO), is a chronic autoinflammatory syndrome that is characterized by multiple foci of painful swelling of bones, mainly in the metaphyses of the long bones, in addition to the pelvis, the shoulder girdle and the spine.|SNOMEDCT_US|N|
C5679882|A form of hereditary cerebral hemorrhage with amyloidosis characterized by an age of onset between 50-70 years of age, recurrent lobar intracerebral hemorrhages and cognitive decline. This subtype is due to a mutation in the <i>APP</i> gene (21q21.2), encoding the beta-amyloid precursor protein. This mutation causes an increased accumulation of amyloid-beta protein in the walls of the arteries and capillaries of the meninges, cerebellar cortex and cerebral cortex, leading to the weakening and eventual rupture of these vessels.|ORDO|N|
C5679884|A rare endocrine disease characterized by early onset of polycythemia, and later occurring multiple paraganglioma. Clinical presentation includes hypertension, headaches, fatigue, nausea, anxiety and high concentration of red blood cells, leading to increased risk of stroke and pulmonary thromboembolism.|SNOMEDCT_US|N|
C5679889|A group of variants of mendelian susceptibility to mycobacterial diseases (MSMD) due to dominantly inherited partial deficiencies in interferon gamma receptor 1 (IFN-gammaR1), IFN-gammaR2, signal transducer and activator of transcription 1 (STAT1) or interferon regulator factor 8 (IRF8).|ORDO|N|
C5679890|A group of genetic variants of mendelian susceptibility to mycobacterial diseases (MSMD) comprised of MSMD due to complete interferon gamma receptor 1 (IFN-gammaR1) deficiency, complete IFN-gammaR2 deficiency, complete interleukin-12 subunit beta (IL12B) deficiency, complete interleukin-12 receptor subunit beta-1 (IL-12RB1) deficiency and complete ISG15 deficiency.|ORDO|N|
C5679891|A group of genetic variants of mendelian susceptibility to mycobacterial diseases (MSMD) due to autosomal recessive mutations in the <i>IFNGR1</i> and <i>IFNGR2</i> genes which lead to a residual response of IFN-gamma.|ORDO|N|
C5679893|T-B- severe combined immunodeficiency (SCID; see this term) is a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T and B lymphocytes, resulting in recurrent early-onset severe respiratory viral, bacterial or fungal infections, diarrhea and failure to thrive. Hypersensitivity to ionizing radiation is a characteristic feature of some of its sub-types.|ORDO|N|
C5679894|T-B+ severe combined immunodeficiency (SCID; see this term) is a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes with presence of B lymphocytes, resulting in early-onset severe respiratory viral, bacterial or fungal infections, diarrhea and failure to thrive.|ORDO|N|
C5679895|A form of classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency characterized by abnormal genital development with variable levels of virilization in females, and normal genitalia in males in association with glucocorticoid insufficiency with absence of salt-wasting, accelerated growth velocity and bone maturation, premature adrenarche and precocious puberty leading to reduced adult height. Females have a normal uterus and various degrees of abnormal vaginal development.|ORDO|N|
C5679896|A form of classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency characterized by abnormal genital development with variable levels of virilization in females and normal genitalia in males in association with glucocorticoid insufficiency with salt-wasting due to aldosterone deficiency, accelerated growth velocity and bone maturation, premature adrenarche and precocious puberty leading to reduced adult height.|ORDO|N|
C5679897|A rare hypereosinophilic syndrome with characteristics of hypereosinophilia produced by reactive/non-clonal eosinophils secondary to an underlying medical condition and persisting for at least six months. The disorder can derive from non-neoplastic conditions (such as chronic infections and infestations, allergic reactions, intoxications, or autoimmune and chronic inflammatory disorders) or from neoplasms including non-myeloid malignancies, among others. It is associated with signs of organ infiltration, dysfunction and damage. Clinical manifestations are highly variable depending on the organ systems involved, and most commonly include dermatologic, pulmonary, cardiac, gastrointestinal, and cerebral manifestations.|SNOMEDCT_US|N|
C5679898|A rare syndrome with characteristics of hypereosinophilia produced by clonal eosinophils derived from neoplastic stem cells in the absence of any secondary cause of eosinophilia and persisting for at least six months. The condition is associated with signs of organ infiltration, dysfunction and damage. Clinical manifestations are highly variable depending on the organ systems involved, and include dermatologic, pulmonary, cardiac, gastrointestinal and cerebral manifestations among others.|SNOMEDCT_US|N|
C5679899|Autosomal dominant form of spastic ataxia.|MONDO|N|
C5679900|Autosomal recessive form of spastic ataxia.|MONDO|N|
C5679901|Primary localized amyloidosis is a form of AL amyloidosis caused by the aggregation of insoluble amyloid fibrils derived from misfolded monoclonal immunoglobulin light chains usually produced by a plasma cell tumor and characterized by localized amyloid deposition with clinical manifestations restricted to the organ involved, most frequently urinary tract (bladder), eye, respiratory tract (larynx, lungs), and skin.|MONDO|N|
C5679902|A rare autosomal dominant form of proximal renal tubular acidosis (pRTA) characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequently causing urinary bicarbonate wastage. Mild growth retardation and reduced bone density are extra-renal complications. Several fractures and delayed puberty are possible features.|ORDO|N|
C5679913|A rare mitochondrial DNA depletion syndrome with characteristics of congenital or early-onset lactic acidosis, hypotonia and severe global developmental delay with feeding difficulties and failure to thrive. It is frequently associated with variable dysmorphic facial features. Additional manifestations include seizures, movement disorders and cardiac and ophthalmologic anomalies, among others. Brain imaging may show generalized atrophy and white matter abnormalities.|SNOMEDCT_US|N|
C5679914|An astrogliopathy and a form of Alexander disease (AxD) characterized by ataxia, bulbar symptoms, spastic paraparesis, palatal myoclonus, and autonomic symptoms.|ORDO|N|
C5679915|An astrogliopathy and the most severe and common form of Alexander disease (AxD), presenting before the age of 4 and characterized by seizures, megalencephaly and developmental delay with progressive deterioration.|ORDO|N|
C5679921|A rare genetic hemolytic uremic syndrome (HUS) characterized by infantile onset of relapsing episodes of microangiopathic hemolytic anemia, thrombocytopenia and acute kidney injury. The episodes are often preceded by viral infections. Affected individuals typically present persistent hypertension, hematuria and proteinuria (sometimes in the nephrotic range) and develop chronic kidney disease with age.|SNOMEDCT_US|N|
C5679923|An extremely rare form of Oculocutaneous albinism type 1 with minimal pigment present, characterized by blond hair (white at birth), variable iris transillumination (blue irides at birth followed by minimal development of pigment during the first decade of life), visual acuity ranging from 20/80-20/200 and white skin, with or without skin nevi.|ORDO|N|
C5679924|Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies (MDDGA) is a cobblestone lissencephaly characterized by and considered to be pathognomonic of a continuum of recessive autosomal disorders with brain, ocular and muscular involvement. MDDGA includes Walker-Warburg syndrome, muscle-eye-brain disease, Fukuyama muscular and cerebral dystrophy and muscle eye brain disease with bilateral multicystic leukodystrophy.|ORDO|N|
C5679927|Benign pyruvate carboxylase (PC) deficiency (Type C) is a rare, very mild form of PC deficiency characterized by episodic metabolic acidosis and normal or mildly delayed neurological development.|ORDO|N|
C5679928|Infantile pyruvate carboxylase (PC) deficiency (Type A) is a rare, severe form of PC deficiency characterized by infantile-onset, mild to moderate lactic acidemia, and a generally severe course.|ORDO|N|
C5679929|Severe neonatal pyruvate carboxylase (PC) deficiency (Type B) is a rare, extremely severe form of PC deficiency characterized by severe, early-onset metabolic acidosis, and a generally fatal outcome in early infancy.|ORDO|N|
C5679930|An inherited metabolic disease that is has its basis in the disruption of mitochondrial genome maintenance.|MONDO|N|
C5679935|A rare bone development disorder characterized by abnormal bowing of the fibula with subsequent non-healing fractures and formation of a false joint (pseudoarthrosis), and instability and angulation at the pseudoarthrosis site. The defect is typically unilateral and often associated with pseudoarthrosis of the tibia and neurofibromatosis type 1.|ORDO|N|
C5679936|A rare bone development disorder characterized by abnormal bowing of the radius and subsequent non-healing fracture with formation of a false joint (pseudoarthrosis), instability and angulation at the pseudoarthrosis site, and shortening of the forearm. Additional signs and symptoms include radial deviation in the wrist joint and limited pronation and supination of the forearm. Neurofibromatosis type 1, osteofibrous dysplasia, and bowing and pseudoarthrosis of the ulna are frequently associated.|ORDO|N|
C5679937|A rare bone development disorder characterized by abnormal bowing of the ulna and subsequent non-healing fracture with formation of a false joint (pseudoarthrosis), instability and angulation at the pseudoarthrosis site, and shortening of the forearm. Additional signs and symptoms include concomitant bowing of the radius, abnormalities of the humeroulnar joint, and limited pronation or supination of the forearm. Neurofibromatosis type 1 and osteofibrous dysplasia are frequently associated.|ORDO|N|
C5679939|A rare bone development disorder characterized by abnormal bowing and subsequent non-healing fracture of the femur resulting in the formation of a false joint (pseudoarthrosis), which is already present at birth. The affected bone is shortened and angulated at the site of the pseudoarthrosis. Congenital hip dysplasia and absence of the patella have been reported in association.|ORDO|N|
C5679943|An autosomal dominant condition caused by mutation(s) in the PITX1 gene, encoding pituitary homeobox 1. It is characterized by clubfoot, and may have associated long bone deformity and/or polydactyly.|NCI|N|
C5679945|A form of phenylketonuria (PKU), an inborn error of amino acid metabolism, characterized by mild to moderate symptoms of PKU including impaired cognitive function, seizures, and behavioral and developmental disorders, and a marked reduction of elevated phenylalanine concentrations after oral loading with tetrahydrobiopterin (BH4), an essential cofactor of phenylalanine hydroxylase.|ORDO|N|
C5679947|POLR3-related leukodystrophy, a hypomyelinating leukodystrophy with specific features on brain MRI, is characterized by varying combinations of four major clinical findings: Neurologic dysfunction, typically predominated by motor dysfunction (progressive cerebellar dysfunction, and to a lesser extent extrapyramidal [i.e., dystonia], pyramidal [i.e., spasticity] and cognitive dysfunctions). Abnormal dentition (delayed dentition, hypodontia, oligodontia, and abnormally placed or shaped teeth). Endocrine abnormalities such as short stature (in ~50% of individuals) with or without growth hormone deficiency, and more commonly, hypogonadotropic hypogonadism manifesting as delayed, arrested, or absent puberty. Ocular abnormality in the form of myopia, typically progressing over several years and becoming severe. POLR3-related leukodystrophy and 4H leukodystrophy are the two recognized terms for five previously described overlapping clinical phenotypes (initially described as distinct entities before their molecular basis was known). These include: Hypomyelination, hypodontia, hypogonadotropic hypogonadism (4H syndrome); Ataxia, delayed dentition, and hypomyelination (ADDH); Tremor-ataxia with central hypomyelination (TACH); Leukodystrophy with oligodontia (LO); Hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum (HCAHC). Age of onset is typically in early childhood but later-onset cases have also been reported. An infant with Wiedemann-Rautenstrauch syndrome (neonatal progeroid syndrome) was recently reported to have pathogenic variants in POLR3A on exome sequencing. Confirmation of this as a very severe form of POLR3-related leukodystrophy awaits replication in other individuals with a clinical diagnosis of Wiedemann-Rautenstrauch syndrome.|GeneReviews|N|
C5679948|A rare condition characterized by the occurrence and/or diagnosis of a malignancy during pregnancy. The most frequently diagnosed neoplasms are gynecologic tumors, especially cervical cancer, followed by hematologic malignancies.|SNOMEDCT_US|N|
C5679949|Pseudoxanthomatous diffuse cutaneous mastocytosis (PDCM) is a rare form of diffuse cutaneous mastocytosis (DCM; see this term) characterized by yellow-orange infiltrated and xanthogranuloma-like lesions with only limited blistering.|ORDO|N|
C5679952|A congenital benign tumor of lung interstitial mesenchymal cells that presents with respiratory symptoms in neonates. Images reveal a well-circumscribed solid or partially cystic lung mass. Microscopical examination reveals widened alveolar septa that contain bland, uniform mesenchymal cells. Some cases show ALK rearrangement and A2M-ALK gene fusion.|NCI|N|
C5679977|Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by renal magnesium (Mg) and calcium (Ca) wasting, nephrocalcinosis, kidney failure and, in some cases, severe ocular impairment. Two subtypes of FHHNC are described: FHHNC with severe ocular involvement (FHHNCOI) and without severe ocular involvement (FHHN) (see these terms).|ORDO|N|
C5679990|A rare hereditary haemochromatosis characterised by inappropriately regulated intestinal iron absorption which leads to excessive iron storage in various organs and manifests with a wide range of signs and symptoms, including abdominal pain, weakness, lethargy, weight loss, elevated serum aminotransferase levels, increase in skin pigmentation, and/or arthropathy in the metacarpophalangeal joints. Other commonly associated manifestations include hepatomegaly, cirrhosis, liver fibrosis, hepatocellular carcinoma, restrictive cardiomyopathy and/or diabetes mellitus.|SNOMEDCT_US|N|
C5679992|A very rare chromosomal anomaly with characteristics of intrauterine and postnatal growth retardation, short stature, developmental delay, learning difficulties, hearing loss, hypermetropia and a recognisable facial dysmorphism including prominent forehead, long myopathic facies, fine eyebrows, small mouth and micrognathia.|SNOMEDCT_US|N|
C5679993|A rare inherited cancer-predisposing syndrome characterized by occurrence of multiple synchronous primary carcinoids of the small intestine. Clinical presentation is otherwise indistinguishable from sporadic carcinoids and includes abdominal pain, flushing, and diarrhea, often becoming manifest only after a long asymptomatic period. Most patients present with low grade tumors. Occurrence of pulmonary carcinoids has also been reported.|ORDO|N|
C5679994|A rare autosomal recessive hereditary sensory and autonomic neuropathy characterized by the complete absence of pain perception from birth, an unresponsiveness to soft touch, severe non-progressive cognitive delay and normal motor movement/behavior and strength. Affected cases retain hot and cold perception.|SNOMEDCT_US|N|
C5679995|A rare disease characterized by a benign tumor-like chronic inflammatory lesion of the submandibular gland. Histologic features are periductal fibrosis, acinar atrophy, obliterative phlebitis, dense lymphoplasmacytic infiltrates rich in IgG4-positive plasma cells and formation of lymphoid follicles. Lobular architecture is preserved. Patients most commonly present with unilateral, painless swelling of the submandibular gland. Serologic analysis reveals elevated IgG4 levels.|SNOMEDCT_US|N|
C5679996|A rare genetic syndromic intellectual disability with characteristics of intrauterine growth retardation, microcephaly, hypotonia, motor and neurodevelopmental delay, speech delay, intellectual disability and mild dysmorphic features.|SNOMEDCT_US|N|
C5679998|A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of agenesis of the corpus callosum, borderline or mild intellectual disability, macrocephaly and dysmorphic facial features (broad forehead, widely spaced eyes). Chiari type I malformation has also been reported in association.|SNOMEDCT_US|N|
C5680000|A rare common cystic lymphatic malformation characterized by a benign cystic lesion composed of dilated lymphatic channels. Mixed cystic lesions consist of cysts both larger (macrocystic) and smaller (microcystic) than 1 cm in diameter. They usually present at birth or during the first years of life and most often occur in the head and neck region but may affect any site. Symptoms depend on the location and extent of the lesion. Infection, trauma or intracystic hemorrhage can lead to lesional expansion. Malignant transformation does not occur.|SNOMEDCT_US|N|
C5680002|A rare neurologic disease with characteristics of axonal sensorimotor neuropathy, progressive optic atrophy, cognitive deficit, bulbar dysfunction, seizures, early hypotonia and feeding difficulties. Additional possible features include dystonia, scoliosis, joint contractures, ocular anomalies and urogenital anomalies. Brain MRI reveals variable degrees of cerebral atrophy. The disease is fatal in childhood due to respiratory failure.|SNOMEDCT_US|N|
C5680004|A rare ophthalmic disorder with characteristics of clinical signs of Graves orbitopathy (such as unilateral or bilateral lid retraction, exophthalmos, soft tissue involvement, restrictive myopathy, and/or optic neuropathy) with normal thyroid function and without any signs of hyperthyroidism. Laboratory examination typically reveals low serum levels of thyroid-stimulating hormone receptor autoantibodies.|SNOMEDCT_US|N|
C5680006|An inherited metabolic disease that is has its basis in the disruption of lipoate biosynthetic process.|MONDO|N|
C5680016|A mild form of phosphoribosylpyrophosphate (PRPP) synthetase superactivity, an X-linked disorder of purine metabolism, characterized by adolescent or early adult-onset hyperuricemia and hyperuricosuria, leading to urolithiasis and gout.|ORDO|N|
C5680017|A severe form of phosphoribosylpyrophosphate (PRPP) synthetase superactivity, an X-linked disorder of purine metabolism, characterized by early onset hyperuricemia and hyperuricosuria, and clinically manifesting with urolithiasis, gout and neurodevelopmental anomalies consisting of variable combinations of sensorineural hearing loss, hypotonia, and ataxia.|ORDO|N|
C5680022|An instance of dystonic disorder that is caused by an inherited modification of the individual's genome.|MONDO|N|
C5680023|Juvenile myasthenia gravis (MG; see this term) is a rare form of MG, an autoimmune disorder of the neuromuscular junction resulting in ocular manifestations or generalized weakness, with onset before 18 years of age.|ORDO|N|
C5680024|A rare autoimmune disorder of the neuromuscular junction characterized by fatigable muscle weakness with frequent ocular signs and/or generalized muscle weakness, and occasionally associated with thymoma.|ORDO|N|
C5680025|HSD10 disease, infantile type is a clinical subtype of HSD10 disease, a rare neurometabolic disorder. Affected boys may show lethargy, poor feeding and evidence of mitochondrial dysfunction in the newborn period, with subsequent mild developmental delay and abnormal muscle tone. Hallmark of the disease is progressive neurodegeneration and cardiomyopathy, which usually manifests between ages 6 months and 2 years with developmental regression, progressive visual and hearing loss, epilepsy and other neurological symptoms, and severe cardiomyopathy. Laboratory investigations show signs of mitochondrial dysfunction, and increased urinary excretion of specific isoleucine metabolites. The disease is often fatal around 2-4 years of age.|ORDO|N|
C5680026|HSD10 disease, neonatal type is the most severe form of HSD10 disease, a rare neurometabolic disorder. It is characterized by severe metabolic/lactic acidosis in the neonatal period, little psychomotor development, seizures and severe progressive hypertrophic cardiomyopathy. Hepatic involvement and coagulopathy are rare. The disease is fatal within the first months of life.|ORDO|N|
C5680035|An instance of osteonecrosis that is caused by a modification of the individual's genome.|MONDO|N|
C5680042|A rare genetic multiple congenital anomalies/dysmorphic syndrome with the association of Pierre Robin Sequence (congenital micrognathia and glossoptosis with airway obstruction and a U-shaped cleft of the soft palate), joint contractures and developmental delay. Additional variable manifestations include talipes equinovarus, arachnodactyly, radioulnar synostosis, severe hip dysplasia, cardiac anomalies, facial dysmorphism such as crumpled ear helices and ocular abnormalities among others.|SNOMEDCT_US|N|
C5680043|A rare genetic syndromic intellectual disability with characteristics of moderate to severe intellectual deficiency, language deficit (completely absent or significantly impaired speech) and distinctive facial dysmorphism (long face, straight eyebrows, and, less frequently, low-set ears and cafe-au-lait spots). Additional, variably observed features include motor delays, behavioral difficulties and seizures.|SNOMEDCT_US|N|
C5680044|Gastrointestinal defects and immunodeficiency syndrome-1 (GIDID1) is characterized by multiple intestinal atresia, in which atresia occurs at various levels throughout the small and large intestines. Surgical outcomes are poor, and the condition is usually fatal within the first month of life. Some patients exhibit inflammatory bowel disease (IBD), with or without intestinal atresia, and in some cases, the intestinal features are associated with either mild or severe combined immunodeficiency (Samuels et al., 2013; Avitzur et al., 2014; Lemoine et al., 2014).
Genetic Heterogeneity of GIDID
See also GIDID2 (619708), caused by mutation in the PI4KA gene (600286) on chromosome 22q11.|OMIM|N|
C5680045|A rare genetic dermis elastic tissue disorder with characteristics of yellowish skin papules (resembling pseudoxanthoma elasticum) located on the neck, chest and/or flexural areas associated with loose, redundant, sagging skin on trunk and upper limbs and retinitis pigmentosa, in the absence of clotting abnormalities. Patient present reduced night and peripheral vision, as well as optic nerve pallor, retinal pigment epithelium loss, attenuated retinal vessels and/or black pigment intra-retinal clumps.|SNOMEDCT_US|N|
C5680047|A rare systemic amyloidosis with characteristics of slowly progressive renal disease presenting with proteinuria, hypertension and decreased glomerular filtration rate leading to progressive renal failure. Histology reveals amyloid deposits of leukocyte chemotactic factor-2 protein in the renal cortical interstitium, tubular basement membranes, glomeruli and the vessel walls. Extra-renal deposits can be seen in the liver, lungs, spleen and adrenal glands.|SNOMEDCT_US|N|
C5680048|A rare acquired peripheral neuropathy with characteristics of paresis of the supraspinatus, infraspinatus, deltoid and biceps muscles (in C5-C6 injury), wrist and finger extensor muscles (C7 injury), or impaired hand function (C8-Th1 injury) on the affected side due to a traction lesion of the brachial plexus during delivery. The upper trunk of the brachial plexus is most commonly affected, while isolated injury to the lower trunk is very rare. Potential sequelae of brachial plexus injury are muscle atrophy, pain, sensory deficits and secondary deformities.|SNOMEDCT_US|N|
C5680049|A rare neurologic condition characterized by focal cerebral ischemia and infarction due to blockage of a brain artery with subsequent impairment of blood supply and oxygenation of brain tissue. Most children present with hemiparesis with or without facial palsy at stroke onset. In addition, compared to adults, children more often suffer strokes in the posterior circulation, leading to ataxia or oculomotor disturbance. Likewise, aphasia is more frequent in pediatric patients. Other signs and symptoms include seizures, headache, vomiting, and alterations in the level of consciousness. Children under one year of age are more likely to present with seizures and altered level of consciousness, while older children more often show focal neurological deficits.|SNOMEDCT_US|N|
C5680050|Secondary polyarteritis nodosa (PAN) is a rare serious form of PAN (see this term) characterized by vasculitis in a background of viral infection, primarily with hepatitis B virus (HBV).|ORDO|N|
C5680051|Single-organ polyarteritis nodosa (PAN) is a rare, often mild form of PAN characterized by limited disease without generalized manifestations, most often affecting the skin (cutaneous PAN; see this term), the brain, eyes, pancreas, testicles, ureter, breasts, or ovaries. Affected patients are often younger than those with systemic PAN (see this term) and relapses appear to be more common.|ORDO|N|
C5680054|A rare ophthalmic disorder with cranial nerve involvement and characteristics of partial or complete ptosis and ophthalmoplegia with impaired ability to elevate, depress or adduct the eyeball, causing strabismus and amblyopia. The pupils can also be dilated. The condition is typically unilateral and may present with or without aberrant regeneration.|SNOMEDCT_US|N|
C5680056|A rare primary bone dysplasia with characteristics of micromelia with rhizomelic shortening, metaphyseal widening of the long bones, brachydactyly, small scapula, micrognathia and thoracic insufficiency requiring tracheostomy and ventilation, severe myopia and sensorineural hearing loss. Further dysmorphic craniofacial features include frontal bossing, proptosis, epicanthal folds, short nose, flat nasal bridge, anteverted nares, midfacial retrusion and cleft palate.|SNOMEDCT_US|N|
C5680057|A rare infantile epilepsy syndrome characterized by early onset of seizures of variable type and severity, potentially associated with a spectrum of clinical signs and symptoms including delay or lack of psychomotor development, intellectual disability, poor or absent speech development, behavioral abnormalities, hypotonia, movement disorders, spasticity, microcephaly, and dysmorphic facial features, among others. Brain imaging findings are also variable and may include cerebral atrophy or white matter abnormalities.|ORDO|N|
C5680060|A rare genetic primary orthostatic disorder with characteristics of dizziness, palpitations, fatigue, blurred vision and tachycardia following postural change from a supine to an upright position in the absence of hypotension. Syncope with transient cognitive impairment and dyspnoea may also occur. The norepinephrine transporter deficiency leads to abnormal uptake and high plasma concentrations of norepinephrine.|SNOMEDCT_US|N|
C5680061|A rare B-cell non-Hodgkin lymphoma characterised by the presence of small B-lymphocytes, plasmacytoid lymphocytes and plasma cells, and either non-secreting or secreting IgG or IgA paraproteins. The disease usually involves the bone marrow and sometimes also the spleen or lymph nodes. Patients typically present with symptoms related to anaemia. Hyperviscosity, autoimmune phenomena and B symptoms may also be observed. Mortality is higher as compared to Waldenström macroglobulinaemia.|SNOMEDCT_US|N|
C5680062|A rare chromosomal anomaly with characteristics of mild intellectual disability, developmental delay, short stature, hypotonia and dysmorphic facial features. Anxiety and short attention span have also been reported.|SNOMEDCT_US|N|
C5680063|A rare genetic syndromic intellectual disability with characteristics of psychomotor delay, hypotonia, feeding difficulties, failure to thrive, anomalies of the hands and feet (clinodactyly, camptodactyly, brachydactyly, feet malposition) and craniofacial dysmorphism. Associated prenatal growth retardation and gastrointestinal, heart and eye anomalies have been reported.|SNOMEDCT_US|N|
C5680064|A rare bone disease with characteristics of bone resorption affecting the distal phalanx, most commonly the terminal tuft, in the absence of a known cause. Patients present with shortening of the affected fingers or toes, associated with nail abnormalities (dystrophic or hypertrophic nails) and skin changes (such as ulceration or pigment anomalies).|SNOMEDCT_US|N|
C5680065|A rare genetic primary combined T and B cell immunodeficiency with characteristics of recurrent, severe viral and bacterial infections. Immunologic findings include decreased immunoglobulin levels, decreased numbers of B and NK cells, reduced relative CD19+ B cells in peripheral blood, impaired memory responses to viral infections and defective antigen-specific T-cell proliferation.|SNOMEDCT_US|N|
C5680073|A epithelial neoplasm that involves the vermiform appendix.|MONDO|N|
C5680075|Hereditary gastric cancer refers to the occurrence of gastric cancer in a familial context and is described as two or more cases of gastric cancer in first or second degree relatives with at least one case diagnosed before the age of 50. Familial clustering is observed in 10% of all cases of gastric cancer, and includes hereditary diffuse gastric cancer (early onset diffuse-type gastric cancer), gastric adenocarcinoma and proximal polyposis of the stomach (see these terms) and familial intestinal gastric cancer (familial clustering of intestinal type gastric adenocarcinoma). Hereditary gastric cancer can also occur in other hereditary cancer syndromes such as Lynch syndrome, Li-Fraumeni syndrome, familial adenomatous polyposis and juvenile polyposis syndrome (see these terms).|ORDO|N|
C5680083|A rare respiratory disorder characterized by major reduction of diaphragmatic contractile force together with fiber atrophy in the diaphragm and other respiratory muscles as a consequence of invasive mechanical ventilation. Reduction of diaphragmatic contractile force may be observed even within hours after intubation. The condition can increase weaning time and affects weaning outcome, mortality and long-term clinical outcomes.|SNOMEDCT_US|N|
C5680085|A partial monosomy of the long arm of chromosome 9 with characteristics of intellectual disability, developmental delay with pronounced speech delay, short stature and muscular hypotonia. Common craniofacial dysmorphic features consist of microcephaly, prominent forehead, round face, arched eyebrows, upslanting palpebral fissures, strabismus, short nose and thin upper lip. Other clinical findings include epilepsy, ataxia, unspecific brain MRI findings, early-onset primary dystonia, nail dysplasia and bone malformations, in particular patellar abnormalities, epistaxis and cutaneous-mucous telangiectasia.|SNOMEDCT_US|N|
C5680086|A partial deletion of the short arm of chromosome 16 characterized by developmental delay, intellectual disability, speech delay, autism spectrum disorder, epilepsy, hypogonadism, and hypotonia. The behavioral profile includes impulsivity, compulsivity, stubbornness, manipulative behaviors, temper tantrums, and aggressive behaviors.|SNOMEDCT_US|N|
C5680087|A partial deletion of the long arm of chromosome 4 characterized by complex behavioral difficulties, developmental and delay/ intellectual disability, and minor dysmorphic features, including subtle facial asymmetry (most prominent in the mandible), mild hypotelorism, long nasal bridge, small low-set ears, narrow mouth and mild hand deformities such as bilateral short fifth metacarpals and short hands.|SNOMEDCT_US|N|
C5680091|Congenital hypopituitarism is characterized by multiple pituitary hormone deficiency, including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies, due to mutations of pituitary transcription factors involved in pituitary ontogenesis.|ORDO|N|
C5680092|A rare arthrogryposis syndrome with characteristics of arthrogryposis multiplex congenita with contractures involving multiple joints of the upper and lower limbs, camptodactyly of fingers and toes, skeletal abnormalities such as scoliosis and pectus excavatum, as well as variable speech and motor delay and hypotonia. Facial dysmorphism includes long eyelashes, periorbital fullness, ptosis, epicanthal folds, high arched/cleft palate and micrognathia.|SNOMEDCT_US|N|
C5680093|A rare ophthalmic disorder with characteristics of idiopathic orbital inflammation in which the specific target tissue is the optic nerve sheath. Patients typically present with ocular pain, pain on eye movement, visual symptoms with loss of vision progressing over several weeks, dyschromatopsia and variable visual field defects. Orbital signs and symptoms may be present and include ptosis, ophthalmoplegia, and exophthalmos. Optic disc oedema is observed in most cases. The condition is usually unilateral.|SNOMEDCT_US|N|
C5680094|A rare inflammatory optic neuropathy characterised by recurrent episodes of idiopathic inflammation of the optic nerve head with optic disc oedema associated with macular exudate in a star-shaped pattern. Patients present with acute visual loss most typically in the form of a large central scotoma. Pain is mild or absent. Bilateral involvement is frequent and usually sequential. The interval between attacks is highly variable ranging from months to several years. Visual loss is cumulative with each attack and often severe.|SNOMEDCT_US|N|
C5680097|A rare chromosomal anomaly syndrome resulting from the partial triplication of the short arm of chromosome 16. The syndrome has characteristics of global developmental delay, pre or post-natal growth delay and distinctive craniofacial features, including short palpebral fissures, epicanthal folds, bulbous nose, thin upper vermillion border, apparently low-set ears and large ear lobes. Variable clinical features that have been reported include congenital heart disease, genitourinary abnormalities, visual anomalies or less commonly infantile hepatic disease. Patients are also reported to have tapered fingers.|SNOMEDCT_US|N|
C5680101|A rare vascular liver disease characterized by widespread or focal cystic dilatation of sinusoidal blood-filled spaces of the liver without any known cause. Lesions can vary in diameter between few millimeters and several centimeters. The condition may remain asymptomatic or manifest with complications including rupture and intraperitoneal hemorrhage, hepatomegaly, portal hypertension, cholestasis and liver failure.|SNOMEDCT_US|N|
C5680109|A rare gastroenterologic disease characterised by the histopathological finding of a thickened gastric subepithelial collagen layer in association with an inflammatory infiltrate in the lamina propria. Patients typically present with upper abdominal pain and severe iron deficiency anaemia. The condition is not commonly associated with autoimmune diseases, and involvement of the colon is less frequent than in the adult form. The disease takes a generally benign course with limited long-term morbidity and no increased mortality.|SNOMEDCT_US|N|
C5680117|A rare hepatic disease characterized by the overlap of primary biliary cholangitis and/or primary sclerosing cholangitis with autoimmune hepatitis, defined by the presence of at least two of the three recognized biochemical, serological and histological criteria of each disease. The onset of the overlapping diseases can be simultaneous or sequential with a variable interval of up to several years. Age of onset, gender predisposition and clinical phenotype vary between each of the diseases. The clinical presentation ranges from asymptomatic disease or unspecific symptoms such as fatigue, arthralgia and pruritus to established cirrhosis and decompensation or also acute fulminant hepatitis and liver failure. Association with extrahepatic autoimmune diseases is common.|SNOMEDCT_US|N|
C5680120|A rare genetic syndromic intestinal disorder characterized by congenital onset of severe watery diarrhea containing high concentrations of sodium, hyponatremia and metabolic acidosis, and generally, unilateral or bilateral choanal atresia and corneal erosions. Additional congenital malformations may include intestinal atresia and hexadactyly. The disorder is due to homozygous or compound-heterozygous mutations in serine peptidase inhibitor, Kunitz type 2 (SPINT2; encoded by SPINT2, 19q13.2), resulting in abrogated sodium absorption, enhanced fluid secretion and diarrhea. The pattern of inheritance is autosomal recessive (AR) for SPINT2 mutations. The risk of disease transmission to offspring for AR disease is 25% where both parents are unaffected carriers.|SNOMEDCT_US|N|
C5680121|A form of autoimmune hepatitis characterized by the features of classic autoimmune hepatitis (i. e. clinical presentation as acute or chronic cryptogenic hepatitis, interface hepatitis on histological examination, elevated serum aspartate aminotransferase and alanine aminotransferase levels, hypergammaglobulinemia/elevated immunoglobulin G, therapeutic response to corticosteroids) in the absence of serum autoantibodies. Clinical manifestations include fatigue, malaise, arthralgia, jaundice, at later stages also signs of advanced chronic liver disease, such as spider nevi, caput medusae, splenomegaly, ascites, and palmar erythema. Presence of concurrent autoimmune diseases is frequently observed.|ORDO|N|
C5680122|A rare autosomal recessive limb girdle muscular dystrophy with characteristics of childhood to adult onset of slowly progressive limb girdle muscular weakness often accompanied by calf hypertrophy and moderately elevated creatine kinase levels. Patients remain ambulatory but may variably present mild intellectual disability, seizures, migraine or cardiopulmonary involvement. Occurrence of dilated cardiomyopathy has been reported. Brain MRI typically shows hyperintensity in T2-weighted sequences. Muscle biopsy commonly reveals dystrophic features.|SNOMEDCT_US|N|
C5680123|A rare autosomal recessive limb girdle muscular dystrophy with characteristics of infantile to adolescent onset of a milder form of limb-girdle muscular dystrophy with or without intellectual disability. Patients present variable proximal limb muscular weakness with calf hypertrophy and elevated serum creatine kinase.|SNOMEDCT_US|N|
C5680124|A rare inborn error of metabolism with characteristics of massive accumulation of triglycerides in the myocardium and coronary arteries while plasma triglyceride levels are normal. Patients present in adulthood with signs and symptoms of coronary artery disease and severe heart failure. Concomitant skeletal myopathy is common. Vacuole formation in polymorphonuclear leukocytes is typically observed.|SNOMEDCT_US|N|
C5680125|A rare intestinal disease with characteristics of congenital partial or complete lack of the collagen mesh network in the intestinal wall resulting in hypoperistalsis or aperistalsis. The enteric nervous system is normal or near normal in the affected areas, although hypo and dysganglionosis may be found in some proximal segments of the colon and/or small bowel. Patients present with chronic intractable slow transit constipation.|SNOMEDCT_US|N|
C5680126|An inherited metabolic disease that is has its basis in the disruption of sulfur amino acid metabolic process.|MONDO|N|
C5680127|A rare primary congenital hypothyroidism with characteristics of a markedly reduced T4/T3 ratio, normal levels of thyroid-stimulating hormone and a highly variable clinical phenotype, which most commonly includes decreased metabolic rate, bradycardia, chronic constipation, neurodevelopmental delay, delayed bone age and skeletal abnormalities. Dysmorphic craniofacial features, such as macrocephaly, broad face, flat nose, large tongue and thick lips have also been reported. Some patients may show only minimal signs and symptoms.|SNOMEDCT_US|N|
C5680128|A rare systemic mastocytosis characterized by the presence of at least 20% usually immature and atypical mast cells in bone marrow aspirate smears. In classic mast cell leukemia, mast cells account for at least 10% of peripheral white blood cells, although the aleukemic variant with less than 10% mast cells is more common. C-findings (cytopenias, hepatomegaly, ascites, portal hypertension, splenomegaly, skeletal lesions, malabsorption), indicative of organ damage due to mast cell infiltration, are usually present at diagnosis, while skin lesions are absent in most cases. Prognosis is generally poor.|ORDO|N|
C5680129|A rare isolated constitutional thrombocytopenia with characteristics of neonatal onset of small-platelet thrombocytopenia with significantly increased bleeding tendency. Bleeding symptoms include petechial rash, mucosal bleeding, and heavy menstrual bleeding. Growth and development are normal, and there is no increased susceptibility to infections.|SNOMEDCT_US|N|
C5680130|A rare form of mast cell leukemia characterized by the presence of at least 20% mast cells in bone marrow aspirate smears but often mature mast cell morphology, low proliferation rate, and absence of organ damage and C findings (cytopenias, hepatomegaly, ascites, portal hypertension, splenomegaly, skeletal lesions, malabsorption). The disease course is less aggressive than in the acute form, although patients may later progress.|ORDO|N|
C5680131|A rare idiopathic nephrotic syndrome characterised by paediatric onset of proteinuria, hypoalbuminaemia and oedema. Patients respond successfully to the initial standard course of corticosteroids, but are resistant to standard therapy for a subsequent relapse and following this relapse remain steroid-resistant.|SNOMEDCT_US|N|
C5680132|A rare idiopathic glomerular clinical syndrome with characteristics of diffuse renal lesions that are indistinguishable from the lesions observed in systemic lupus erythematosus (SLE) in the absence of circulating autoantibodies and other systemic features necessary to meet the classification criteria for SLE. Patients may present with nephrotic syndrome, abnormal urinary sediment, acute renal insufficiency, progressive glomerulonephritis and hypertension. Some patients have been reported to develop a progression to SLE over time.|SNOMEDCT_US|N|
C5680134|A rare familial partial lipodystrophy with characteristics of adult onset of distal lipoatrophy and severe insulin resistance in the liver and peripheral tissues, hyperinsulinemia, and diabetes mellitus. Acanthosis nigricans and hypertension have been reported in association.|SNOMEDCT_US|N|
C5680135|A group of rare central nervous system malformations with characteristics of varying degrees of absence or dysplasia of the derivatives of the prosencephalon (i.e. telencephalon and diencephalon), with an intact cranial vault. The spectrum comprises atelencephaly, the less severe form, in which only the telencephalon is affected, and aprosencephaly, where the diencephalon is also involved. The malformations may occur in an isolated form or in association with other anomalies.|SNOMEDCT_US|N|
C5680136|A rare neoplastic disease characterised by the presence of ten or more hepatocellular adenomas in a background of normal appearing hepatic parenchyma. The majority of reported cases are female. There is no association with steroid use. The condition is considered benign, although the risk of complications (such as malignant transformation or spontaneous rupture with intraperitoneal haemorrhage) is much higher than in isolated hepatic adenoma. Hepatocellular carcinoma develops in less than 10% of cases.|SNOMEDCT_US|N|
C5680138|A rare primary lymphedema characterized by bilateral, painless lower limb swelling present at birth. Prominent veins around the ankles and on the dorsa of the feet, dysplastic and upslanting toenails due to edema of the nailbed, and subtle dysmorphic facial features (such as high forehead, hypertelorism, depressed nasal bridge, mild bilateral ear dysplasia, and short neck) have also been described. The degree of lymphatic impairment is milder than in the otherwise clinically similar Milroy disease, as evidenced by slightly less severe lymphedema and significantly more uptake of tracers on lymphoscintigraphy.|SNOMEDCT_US|N|
C5680139|A rare genetic cardiac disease characterized by restrictive ventricular filling due to high ventricular stiffness that results in severe diastolic dysfunction in the absence of dilated or hypertrophied ventricles.|ORDO|N|
C5680140|A rare primary lymphoedema characterised by a highly variable lymphatic phenotype ranging from severe lymphatic-related hydrops fetalis, which may cause perinatal demise or fully resolve to become completely asymptomatic, to a mild presentation in older patients with persistent varicose veins, peripheral oedema and impaired lymph drainage in the lower limbs. Atrial septal defect has been described in association and may be the only anomaly in some patients.|SNOMEDCT_US|N|
C5680142|A rare genetic isolated diffuse palmoplantar keratoderma with characteristics of diffuse, mild to thick finely demarcated hyperkeratosis of palms and soles. Additional clinical findings include knuckle pad-like keratoses on fingers, hyperkeratosis of umbilicus and areola, diffuse dry skin, hyperhidrosis, hangnails and frequent fungal infections. Histological examination of lesions reveals orthokeratotic hyperkeratosis, acanthosis, hypergranulosis and mild lymphocyte infiltrations in the upper dermis with no evidence of epidermolysis.|SNOMEDCT_US|N|
C5680148|Serine-deficiency syndrome is a very rare infantile-onset potentially treatable neurometabolic disorder characterized clinically by microcephaly, neurodevelopmental disorders and seizures. Three serine-deficiency syndromes have been described: 3-phosphoglycerate dehydrogenase (3-PGDH) deficiency, 3-phosphoserine phosphatase (3-PSP) deficiency, and phosphoserine aminotransferase deficiency (see these terms).|ORDO|N|
C5680152|A rare viral disease characterized by fulminant cytomegalovirus infection with multiple organ involvement including the brain, lung, liver, and/or heart, among others, and marked constitutional symptoms in immunocompetent patients. The condition is associated with a high case fatality rate.|ORDO|N|
C5680153|A rare systemic disease with characteristics of congenital muscle hypotonia and/or muscle atrophy that improves with age, proximal joint contractures (knee, hip, elbow), and hypermobility of distal joints. Additional features include soft, doughy skin, atrophic scarring, delayed motor development and myopathic findings in muscle biopsy. Abnormal craniofacial features have been reported in some patients. Molecular testing is obligatory to confirm the diagnosis.|SNOMEDCT_US|N|
C5680154|A rare connective tissue disorder for which three subtypes exist, either related to the gene B4GALT7, B3GALT6 or SLC39A13, and for which the clinically overlapping characteristics include short stature (progressive in childhood), small joint hypermobility, skin hyperextensibility with soft, doughy skin especially on the hands and feet, muscular hypotonia (ranging from congenitally severe to mild with later onset), skeletal anomalies and more variably osteopenia, delayed motor development and bowing of the limbs. Gene-specific features with variable presentation are additionally observed in each subtype.|SNOMEDCT_US|N|
C5680157|A rare subtype of pyoderma gangrenosum disease characterized by rapidly progressive, single or multiple, painful, aseptic ulcers which present overhanging, violaceous and undermined borders, surrounding induration and erythema, and granulation tissue (occasionally necrotic tissue and/or a purulent exudate) at the base, mainly affecting the legs (but other body surfaces may also be involved), leading to chronic ulcerations and often regressing with cribriform mutilating scars. The disease presents a chronic relapsing course and systemic features (e.g. fever, malaise, arthralgia, myalgia) may be associated.|ORDO|N|
C5680158|A rare subtype of pyoderma gangrenosum disease characterized by a solitary, erythematous, ulcerated plaque, which lacks the violaceous border typically present in classic pyoderma gangrenosum, usually affecting individuals who are otherwise healthy. Histologically, the lesion presents a central layer containing neutrophilic inflamation, surrounded by a palisade of histiocytes, which are rimmed by a lymphocytic infiltrate. In comparison with the other variants of pyoderma gangrenosum, this subtype usually shows a good response to less aggressive treatments and underlying systemic disorders are less frequently associated. It is considered the most benign and uncommon clinical variant of pyoderma gangrenosum.|ORDO|N|
C5680162|A rare systemic condition affecting patients undergoing chimeric antigen receptor (CAR) T-cell therapy and characterized by a systemic inflammatory response due to massive activation of leukocytes with subsequent cytokine release. It can present with a variety of signs and symptoms ranging from mild, flu-like symptoms (such as fever, fatigue, headache, rash, arthralgia, and myalgia) to severe life-threatening manifestations including vascular leakage, disseminated intravascular coagulation, shock and multiple organ failure. Respiratory manifestations are common and range from cough and tachypnea to acute respiratory distress syndrome.|SNOMEDCT_US|N|
C5680163|A rare genetic developmental and epileptic encephalopathy with characteristics of developmental delay, generalised epilepsy consisting of eyelid myoclonia with absences and myoclonic-atonic seizures, intellectual disability and autism spectrum disorder (ASD). The SYNGAP1 gene (6p21.32) encodes the synaptic Ras-GTPase-activating protein 1, mainly expressed in the synapses of excitatory neurons. Loss of function mutations in SYNGAP1 impairs neuronal homeostasis and development. This disorder is caused by heterozygous pathogenic SYNGAP1 variants or chromosome 6p21.32 microdeletions encompassing the SYNGAP1 gene. The pattern of inheritance is autosomal dominant.|SNOMEDCT_US|N|
C5680165|A rare type of hemolytic uremic syndrome (HUS) characterized by the triad of hemolytic anemia due to generalized thrombotic microangiopathy, thrombocytopenia and acute kidney injury. The disease most commonly occurs after acute gastroenteritis due to Shiga toxin-producing enterohemorrhagic Escherichia coli or Shigella dysenteriae. Other infectious causes of HUS include Streptococcus pneumoniae, HIV, Mycoplasma pneumoniae, Histoplasmosis and Coxsackie virus.|SNOMEDCT_US|N|
C5680170|A subtype of inflammatory pseudotumor of the liver characterized by a benign, well-circumscribed tumor with diffuse lymphoplasmacytic infiltration with histological features of IgG4-related disease (numerous IgG4-positive plasma cells, prominent eosinophils, stromal fibrosis, fibroblastic proliferations and, frequently, obliterative phlebitis), and that is likely located around the hepatic hilum. Most often it is discovered as an incidental finding.|ORDO|N|
C5680171|A rare type of familial hypoaldosteronism characterized by early infantile onset of vomiting, diarrhea, severe dehydration, and failure to thrive. Analysis of plasma electrolytes shows hyponatremia, hyperkalemia, and acidosis. Plasma renin activity is elevated, and aldosterone levels are low.|ORDO|N|
C5680172|A rare form of familial hypoaldosteronism characterized by adult onset of subnormal plasma aldosterone with elevated plasma renin activity, hyperkalemia, metabolic acidosis, and hypotension. Signs and symptoms are typically mild, and affected individuals may be clinically asymptomatic and diagnosed only after biochemical screening.|ORDO|N|
C5680178|Autosomal dominant form of intermediate Charcot-Marie-Tooth disease.|MONDO|N|
C5680179|A rare endocrine disease characterized by the presence of serum autoantibodies against thyroid-stimulating hormone receptors, leading to increased thyroid hormone production and secretion, causing diffuse toxic goiter. Patients present in childhood with signs of thyrotoxicosis (such as tachycardia, weight loss, hand tremor, and sweating), diffuse enlargement of the thyroid gland, and orbitopathy. Additional signs and symptoms include decreased academic and athletic performance, accelerated growth, restlessness, fatigue, sensitivity to heat, and amenorrhea, among others.|ORDO|N|
C5680180|A rare genetic peripheral neuropathy with characteristics of complete congenital insensitivity to painful stimuli commonly associated with neuropathic arthropathy. In addition, patients are typically anosmic. Caused by homozygous or compound heterozygous mutations in the SCN9A gene on chromosome 2q24.|SNOMEDCT_US|N|
C5680181|Autosomal recessive form of non-syndromic intellectual disability.|MONDO|N|
C5680182|Deafness is the most frequent form of sensorial deficit. In the vast majority of cases, the deafness is termed nonsyndromic or isolated and the hearing loss is the only clinical anomaly reported. The majority of cases presenting at birth concern perceptive deafness (with a neurosensory origin associated with the inner ear) rather than conductive deafness (anomalies in the amplification of sound waves between the middle ear and the outer ear).|SNOMEDCT_US|N|
C5680183|A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of vertebral segmentation defects associated with cardiac (patent ductus arteriosus, atrial septal defect, hypoplastic left heart) and renal (hypoplastic kidneys, chronic kidney disease) anomalies. Additional reported features include limb defects, short stature, global developmental delay, intellectual disability and sensorineural hearing loss among others.|SNOMEDCT_US|N|
C5680185|A rare genetic multiple congenital anomalies/dysmorphic features-intellectual disability syndrome with characteristics of developmental and speech delay, intellectual disability, feeding difficulties, failure to thrive, growth retardation, and associated malformations such as abnormality of fingers and toes (i.e. clinodactyly of the fifth finger, second to third toe syndactyly), microcephaly, heart defects and upper airways anomalies. Observed facial dysmorphism includes hypertelorism, small, narrow or downslanting palpebral fissures, ptosis, epicanthus, ear malformations, broad nasal bridge, bulbous/prominent nose, short philtrum, thin lips, retrognathia/micrognathia, arched/cleft palate and dental anomalies. Additional variable manifestations include hearing and visual impairment, seizures, joint anomalies, obesity, and behavioural/psychiatric disorders.|SNOMEDCT_US|N|
C5680190|A rare congenital tumor characterized by a benign cyst with epithelial and epidermoid components, originating from embryologic displacement and ectopic growth of ectodermal tissue in the central nervous system. In contrast to epidermoid cysts, dermoid cysts also contain dermis and skin appendages. Most common location is the lumbosacral region, as well as the cerebellopontine angle and parasellar area for intracranial lesions. Clinical presentation depends on the location and size of the tumor and includes pain, muscle weakness, motor and sensory disturbances, and incontinence for intraspinal lesions, and intracranial hypertension, gait disturbances, cranial nerve dysfunction, and visual deficits for intracranial tumors. The cysts may rupture and cause chemical meningitis.|ORDO|N|
C5680192|X-linked form of nonsyndromic deafness.|MONDO|N|
C5680193|A rare neurologic disease with characteristics of the presence of Duane retraction syndrome (i.e. a congenital cranial dysinnervation disorder with unilateral or bilateral limitation of abduction and/or adduction of the eye, as well as globe retraction and palpebral fissure narrowing on attempted adduction) in combination with congenital unilateral or bilateral hearing loss. The sidedness of hearing loss corresponds to the sidedness of the retraction syndrome.|SNOMEDCT_US|N|
C5680195|Immunotactoid or fibrillary glomerulopathy is a group of very rare glomerular diseases, composed of immunotactoid glomerulopathy (ITG) and non-amyloid fibrillary glomerulopathy (non-amyloid FGP) (see these terms), that are characterized by mesangial deposition of monoclonal microtubular or polyclonal fibrillar deposits. Both present clinically with nephrotic range proteinuria, hematuria and renal insufficiency leading to renal failure in many cases. ITG is more likely to manifest with underlying lymphoproliferative disease, hypocomplementemia, dysproteinemia, monoclonal gammopathy or occult cryoglobulinemia. Non-amyloid FGP is 10 times more frequent than ITG.|ORDO|N|
C5680196|Unspecified juvenile idiopathic arthritis is a rare, pediatric, rheumatologic disease, a subtype of juvenile idiopathic arthritis (JIA) characterized by arthritis of an unknown cause that persists for at least 6 weeks, and does not fulfill the criteria for any of the other JIA subtypes, or fulfills criteria for more than one of the other subtypes.|ORDO|N|
C5680203|A mild to moderate form of phenylketouria (PKU), an inborn error of amino acid metabolism, characterized by blood phenylalanine concentrations of 600-1,200 micromol/L and manifests with reduced cognitive function and behavioral and developmental disorders. Dietary phenylalanine tolerance is 400-600 mg/day.|ORDO|N|
C5680204|Diazoxide-resistant focal hyperinsulism (DRFH) is a form of diazoxide-resistant hyperinsulinism characterized by recurrent episodes of profound hypoglycemia caused by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) due to a focal adenomatous hyperplasia of pancreas, that is unresponsive to medical treatment with diazoxide, necessitating complete excision of the focal lesion.|MONDO|N|
C5680207|A rare form of phenylketonuria, an inborn error of amino acid metabolism, characterized by blood phenylalanine (Phe) concentrations of 120-600 micromol/L with or without clinical manifestations of impaired cognitive function, and behavioral and developmental disorders.|ORDO|N|
C5680208|A rare syndromic esophageal malformation characterized by severe congenital brachyesophagus with midline diaphragmatic hernia and secondary intrathoracic stomach, and vertebral anomalies (in particular rachischisis of the cervical/thoracic spine). Additional reported manifestations include intrauterine growth restriction, short neck, intestinal malrotation, herniation of other abdominal organs and cleft lip, among others. The condition is mostly fatal in the neonatal or early infantile period.|SNOMEDCT_US|N|
C5680210|A rare multiple congenital anomalies syndrome characterized by several of the typical clinical features of Bohring-Opitz syndrome, like intrauterine growth retardation, facial dysmorphism, microcephaly, severe feeding difficulties, joint contractures, intellectual disability and a BOS-like posture of upper limbs. Trigonocephaly, synophrys, high myopia and cyclic emesis are, on the contrary, very rarely described.|ORPHANET|N|
C5680211|A rare genetic, multiple congenital anomalies syndrome characterized by several of the typical clinical features of Crisponi Syndrome/cold-induced sweating syndrome such as hyperthermia in the first months of life, dysmorphism, feeding and respiratory difficulties, contraction of oropharyngeal muscles, joint contractures with camptodactyly and early onset retinitis pigmentosa, but lacking cold-induced sweating. In contrast to Crisponi and cold-induced sweating syndromes, intellectual disability is reported.|ORPHANET|N|
C5680229|A rare genetic disease with characteristics of early-onset severe obesity due to mutations in single genes acting on the development and function of the hypothalamus or the leptin-melanocortin pathway, leading to disruption of energy homeostasis and endocrine dysfunction. Patients present with a body mass index over three standard deviations above normal at less than five years of age, accompanied by a variety of signs and symptoms according to the mutated gene, including hyperphagia, insulin resistance, reduced basal metabolic rate or hypogonadism among others.|SNOMEDCT_US|N|
C5680244|A dystonia that is combined with another movement disorder (e.g., myoclonus, parkinsonism).|MONDO|N|
C5680247|Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 is a genetic malformation syndrome with short stature characterized by severe prenatal and postnatal growth retardation, feeding difficulties, body asymmetry, dysmorphic craniofacial features (triangular-shaped face, relative macrocephaly, frontal bossing, micrognathia, down-turned corners of the mouth) and other anomalies (fifth finger clinodactyly, café au lait macules, male genital anomalies, mild developmental delay and/or speech delay with movement disorders).|ORDO|N|
C5680248|A rare chromosomal anomaly characterized by prenatal and postnatal growth retardation, hypotonia, motor delay, early puberty, obesity, short adult stature, small hands and feet, mild intellectual disability, and mild dysmorphic facial features (frontal bossing, short nose with wide nasal tip, micrognathia, high palate, short philtrum).|ORDO|N|
C5680251|Kagami-Ogata syndrome (KOS) is a rare imprinting disorder characterized prenatally by polyhydramnios, macrosomia, and placentomegaly. After birth, infants often have respiratory distress, feeding difficulties, and postnatal growth retardation. Thoracic abnormalities include small bell-shaped thorax, 'coat-hanger' ribs, narrow chest wall, and cardiac anomalies. Abdominal wall defects include omphalocele, diastasis recti, and inguinal hernias. Hepatoblastoma is present in some patients. Dysmorphic facial features include frontal bossing, depressed nasal bridge, hairy forehead, anteverted nares, micrognathia, and a short neck. Developmental findings include hypotonia, speech and/or motor delays, and normal to mildly impaired intellectual development (summary by Prasasya et al., 2020).|OMIM|N|
C5680253|A form of pauci-immune glomerulonephritis characterized by rapidly progressive glomerulonephritis and the absence of antineutrophilic cytoplasmic antibodies (ANCA). In comparison with pauci-immune GN with ANCA, patients lacking ANCA may be younger at onset of the disease, have fewer extra renal manifestations (e.g. involvement of lung, eye, ear, nose and throat), fewer constitutional symptoms (e.g. fever, weight loss, muscle pain and arthralgia) and a high prevalence of nephrotic syndrome and chronic renal lesions. The prognosis is generally poorer.|ORDO|N|
C5680254|A form of pauci-immune glomerulonephritis characterized by a rapidly progressive glomerulonephritis in association with the presence of circulating antineutrophilic cytoplasmic antibodies (ANCA), mostly directed against proteinase-3 (PR3) and myeloperoxidase (MPO). Patients usually present with urinary abnormalities and rapidly declining renal function, often leading to dialysis within weeks without treatment. Cutaneous, pulmonary, musculoskeletal and nervous involvement may be observed in case of systemic disease, and the correlation between ANCA titer and disease activity has been demonstrated.|ORDO|N|
C5680255|Thyroid dysgenesis is a type of primary congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth.|ORDO|N|
C5680256|Acquired central diabetes insipidus (acquired CDI) is a subtype of central diabetes insipidus (CDI), characterized by polyuria and polydipsia, due to an idiopathic or secondary decrease in vasopressin (AVP) production.|MONDO|N|
C5680259|A group of spinocerebellar ataxias (SCAs) characterized by ataxia with other neurological signs, including oculomotor disturbances, cognitive deficits, pyramidal and extrapyramidal dysfunction, bulbar, spinal and peripheral nervous system involvement.|ORDO|N|
C5680260|A group of neurodegenerative disorders characterized by mostly pure cerebellar syndromes with occasional non-cerebellar signs (e.g. pyramidal signs, peripheral neuropathy, writer's cramp) and includes spinocerebellar ataxia (SCA) type 5 (SCA5), SCA6, SCA11, SCA26, SCA30, and SCA31.|ORDO|N|
C5680263|A clinico-serological subtype of mixed cryoglobulinemia syndrome, is an immune complex disorder, characterized by purpura, weakness and arthralgia and defined immunochemically by cryoglobulins containing both polyclonal IgGs and polyclonal IgMs.|ORDO|N|
C5680264|A clinico-serological subtype of mixed cryoglobulinemia syndrome, an immune complex disorder, characterized by purpura, weakness and arthralgia and defined immunochemically by cryoglobulins composed of polyclonal IgGs (autoantigens) and monoclonal IgM (autoantibody).|ORDO|N|
C5680267|A rare, hereditary amyloidosis with primary renal involvement characterized by fibrinogen A-alpha-chain amyloid deposition predominantly in the kidney glomeruli and clinically presenting with hypertension, uremia, nephrotic syndrome slowly progressing to end-stage renal disease. Extra-renal involvement is possible, due to neurological, cardiac, visceral and vascular amyloid deposition.|ORDO|N|
C5680268|A rare systemic disease characterized by a life-threatening hyperinflammatory state several weeks after infection with SARS-CoV-2, predominantly occurring in children. The primary infection is typically mild or asymptomatic, and patients are generally previously healthy individuals. Typical presenting signs and symptoms are persistent fever, gastrointestinal symptoms, mucocutaneous inflammation, lymphopenia, and high levels of circulating inflammatory markers. Some patients develop severe disease with cardiac involvement, hypotension, and shock. Presentation is similar in adults, although the severity of cardiac dysfunction, incidence of thrombosis, and mortality may be higher.|ORPHANET|N|
C5680269|A rare, hereditary amyloidosis with primary renal involvement characterized by renal interstitial and medullary deposition of amyloid, low plasma levels of ApoA-1 and slow disease progression. Main clinical signs and symptoms are hypertension, proteinuria, hematuria and edema due to chronic renal insufficiency leading to end stage renal disease. Hepatosplenomegaly, progressive cardiomyopathy and involvement of skin, testes and adrenals (hypergonadotropic hypogonadism) have also been reported.|ORDO|N|
C5680270|A rare, hereditary amyloidosis with primary renal involvement characterized by amyloid deposition in the kidney glomeruli and medulla, gastrointestinal tract, liver, spleen and slow disease progression. Symptoms and signs include nausea, vomiting, dyspepsia, gastritis, gastrointestinal hemorrhage, abdominal pain, hepatic rupture, sicca syndrome, purpura and petechiae, lymphadenopathy and renal dysfunction.|ORDO|N|
C5680271|Any inflammatory bowel disease in which the cause of the disease is a mutation in the TRIM22 gene.|MONDO|N|
C5680283|Fibrous dysplasia / McCune-Albright syndrome (FD/MAS), the result of an early embryonic postzygotic somatic activating pathogenic variant in GNAS (encoding the cAMP pathway-associated G-protein, Gsa), is characterized by involvement of the skin, skeleton, and certain endocrine organs. However, because Gsa signaling is ubiquitous, additional tissues may be affected. Café au lait skin macules are common and are usually the first manifestation of the disease, apparent at or shortly after birth. Fibrous dysplasia (FD), which can involve any part and combination of the craniofacial, axial, and/or appendicular skeleton, can range from an isolated, asymptomatic monostotic lesion discovered incidentally to severe disabling polyostotic disease involving practically the entire skeleton and leading to progressive scoliosis, facial deformity, and loss of mobility, vision, and/or hearing. Endocrinopathies include: Gonadotropin-independent precocious puberty resulting from recurrent ovarian cysts in girls and autonomous testosterone production in boys; Testicular lesions with or without associated gonadotropin-independent precocious puberty; Thyroid lesions with or without non-autoimmune hyperthyroidism; Growth hormone excess; FGF23-mediated phosphate wasting with or without hypophosphatemia in association with fibrous dysplasia; and Neonatal hypercortisolism. The prognosis for individuals with FD/MAS is based on disease location and severity.|GeneReviews|N|
C5680284|A disease that has its basis in the disruption of embryonic morphogenesis.|MONDO|N|
C5680285|An instance of cystic kidney disease that is caused by an inherited modification of the individual's genome.|MONDO|N|
C5680291|A rare congenital anomaly of the inferior vena cava with complete interruption of the vessel in which no direct continuity exists between the inferior vena cava and the azygos/hemiazygos system. Clinical manifestations depend on the variant drainage patterns or collaterals and include lower extremity deep vein thrombosis, thromboembolic attacks, leg swelling and pain, lower extremity varices, abdominal pain, intraabdominal varices and hematochezia among others. Additional venous abnormalities or cardiac malformations are frequently present.|SNOMEDCT_US|N|
C5680292|A rare congenital anomaly of superior vena cava characterized by a persistent left superior vena cava that drains into the left atrium through a direct connection to its roof, creating a right-to-left shunt. Patients are at risk of developing chronic hypoxia, decreased exercise tolerance, cyanosis, embolic cerebrovascular events, and heart failure.|ORDO|N|
C5680293|A rare congenital vascular malformation of the major vessels with characteristics of a persistent left superior vena cava that drains through the left coronary sinus to the left atrium. Patients are usually asymptomatic and this is discovered incidentally, however hypoxia, cyanosis, murmurs, palpitations, cardiac structural anomalies (e.g. atrial septal defect, bicuspid aortic valve, cor triatriatum) and risk of paradoxical embolization may be associated.|SNOMEDCT_US|N|
C5680294|Atrioventricular septal defect with communication at the atrial level only.|MONDO|N|
C5680303|A rare genetic neurological disorder with a phenotypic spectrum of mild to severe developmental delay and hypotonia variably associated with intellectual disability, early-onset seizures and movement disorders, such as dystonia, ataxia, chorea and dyskinesia. Brain imaging may show delayed myelination, thin corpus callosum or cerebral atrophy.|SNOMEDCT_US|N|
C5680310|A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of choanal atresia, athelia or hypoplastic nipples, branchial arch abnormalities, external ear malformations, hearing loss, thyroid abnormalities, delayed or absent pubertal development and short stature. Developmental delay/intellectual disabilities are variably reported.|SNOMEDCT_US|N|
C5680313|A rare ectodermal dysplasia syndrome with characteristics of linear hypopigmentation and hypotrichosis following the lines of Blaschko, symmetric or asymmetric facial dysmorphism and body asymmetry, in association with ocular, dental and acral anomalies. Reported manifestations include microphthalmia, strabismus, myopia, oligodontia, microdontia, conical teeth, abnormal enamel, brachydactyly, syndactyly and broad first toe, as well as dysmorphic facial features such as downslanting palpebral fissures, broad nasal bridge, malar hypoplasia and microstomia. Brain imaging may show cystic leukoencephalopathy and ventricular dilation.|SNOMEDCT_US|N|
C5680331|A rare hereditary optic atrophy characterised by an early onset of bilateral optic nerve degeneration without other systemic features. Clinical manifestations include pallor of the optic discs, severe but slowly progressing visual impairment, and in some patients also paracentral scotoma, photophobia and dyschromatopsia.|SNOMEDCT_US|N|
C5680340|A rare ophthalmic disorder with cranial nerve involvement and characteristics of dysfunction of the superior oblique muscle with typical eye motility patterns including elevation in adduction, V-pattern related to reduced abduction force in downgaze with unopposed adduction by the inferior rectus muscle and excyclotorsion. Patients may present with contralateral head tilt to compensate for vertical binocular misalignment and diplopia.|SNOMEDCT_US|N|
C5680341|A rare PIK3CA-related overgrowth syndrome characterized by congenital non-hereditary facial overgrowth due to post-zygomatic activating mutations in the &lt;i&gt;PIK3CA&lt;/i&gt; gene. It is unilateral and involves hypertrophy of both the soft and hard tissue structures on the affected side of the face, including hypertrophy of the facial bones, macroglossia, and proliferation of the parotid gland. Early eruption of the teeth is common.|ORPHANET|N|
C5680354|A rare genetic cerebral small vessel disease with characteristics of adult-onset primary microangiopathy with severe atherosclerosis of arterioles and secondary leukoencephalopathy. Patients may present with migraine, transient ischemic attacks, stroke with central facial palsy, cognitive dysfunction with impaired concentration, dementia, depression, movement disorder, vertigo, dysphagia, dysarthria, impaired REM sleep, and therapy-resistant hypertension, among others. Brain MRI typically shows a leukoencephalopathy that is disproportionately severe and extensive compared to the clinical disease.|SNOMEDCT_US|N|
C5680361|A rare primary immunodeficiency characterised by recurrent atypical mycobacterial infections, accompanied by relatively minor viral infections on an immunological background of reduced induction of expression of interferon-regulated genes and dysregulated cytokine production, as revealed by laboratory studies. Global developmental delay and occurrence of non-haematopoietic malignancy at a young age have been reported in association.|SNOMEDCT_US|N|
C5680364|A rare genetic respiratory disease characterised by infantile onset of pulmonary alveolar proteinosis with hypogammaglobulinaemia. Patients have normal respiratory function at birth, but subsequently develop recurrent, mainly viral, infections and progressive respiratory failure, often leading to death in infancy or early childhood. Additional reported features include leucocytosis and splenomegaly.|SNOMEDCT_US|N|
C5680367|An instance of motor neuron disease that is acquired during the lifetime of the individual.|MONDO|N|
C5680374|A type of tick-borne disease which presents on the skin caused by bacteria of the genus Rickettsia.|MONDO|N|
C5680379|Autosomal dominant form of complex hereditary spastic paraplegia.|MONDO|N|
C5680380|A type of acquired angioedema (AAE) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.|ORDO|N|
C5680381|A type of acquired angioedema (AAE) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.|ORDO|N|
C5680383|A group of interstitial lung diseases (ILD) induced by genetic mutations disrupting surfactant function and gas exchange in the lung. The disorders caused by these mutations affect full-term infants and older children and exhibit considerable overlap in their clinical and histologic presentation.|ORDO|N|
C5680419|A wide spectrum of malformations involving the distal anus and rectum along with urinary and genital tracts, which can affect male or female. Defects range from mild anal anomalies to complex cloacal malformations. They can therefore be classified into the following groups: imperforated anus without fistula, ARM with rectourinary or rectogenital fistula and complex ARM (cloaca). Associated anomalies include genitourinary defects in approximately 50% of patients and spinal anomalies. The aetiology remains unclear and is likely multifactorial. Familial cases have been described.|SNOMEDCT_US|N|
C5680423|A rare, genetic, neonatal diabetes mellitus syndrome, that is a variant of DEND syndrome and is characterized clinically by neonatal insulin-dependent diabetes mellitus, mild motor, speech or cognitive delay, and absence of epilepsy.|ORDO|N|
C5680451|A severe form of nemaline myopathy with characteristics of severe hypotonia with little spontaneous movement in neonates. Neonates have sucking and swallowing difficulties, and gastroesophageal reflux, which leads to failure to thrive. Involvement of diaphragm and intercostal muscles contributes to respiratory insufficiency. Cardiomyopathy and arthrogryposis may occur. The ACTA1 (1q42.13) and NEB (2q22) genes are associated with this form of the disease. Transmission is autosomal recessive or occurs sporadically. Survival after infancy is rare.|SNOMEDCT_US|N|
C5680452|A type of nemaline myopathy that shows features of typical nemaline myopathy in neonates with a more severe progression. Neonates present with spontaneous anti-gravity movements and active respiratory muscles, but with a progressive generalized weakness which prevents achievement of gross motor milestones or leads to loss of ambulation and/or independent respiration by age 11 years. Children often develop joint contractures. The ACTA1 (1q42.13), NEB (2q22) or TPM3 (1q21.2) genes have been associated with this disease. The transmission pattern of the disease is autosomal recessive or dominant.|SNOMEDCT_US|N|
C5680453|A moderate neonatal form of nemaline myopathy with characteristics of facial and skeletal muscle weakness and mild respiratory involvement. Disease onset is in the neonatal period. Patients have a long face, a high-arched palate and a tented upper lip. Skeletal anomalies may include kyphoscoliosis, pectus carinatum and pes cavus. In the first year of life, hypotonia and facial weakness are present and often contribute to failure to thrive and delayed motor development. Anti-gravity movements are present and respiratory muscle involvement is frequent. Nocturnal hypoxia and hypercarbia and lower respiratory tract infections are common manifestations. Joint hypermobility can be observed. In a minority of children weakness is more distal. Progression is very slow or absent and most patients are able to live an independent active life. The disease is caused by mutations of the ACTA1 (1q42.13), NEB (2q22) or TPM2 (9p13) genes, and disease transmission can be autosomal recessive or dominant.|SNOMEDCT_US|N|
C5680465|The hereditary dentin disorders, dentinogenesis imperfecta (DGI) and dentin dysplasia (DD), comprise a group of conditions characterized by abnormal dentin structure affecting either the primary or both the primary and secondary dentitions.|ORDO|N|
C5680490|A rare non-syndromic uterine malformation characterized by a uterus with two uterine horns and only one cervix, resulting from a failure in the fusion of the two Müllerian structures. Depending on the degree of the fusion deficiency, the malformation may be complete with the cavities separated up to the internal orifice of the cervix and not linked, or partial when there is some linkage. Patients may present recurrent pregnancy loss or preterm labor.|ORPHANET|N|
C5680502|Autosomal dominant form of non-syndromic intellectual disability.|MONDO|N|
C5680503|A rare, primary cutaneous T-cell lymphoma characterized by solitary cutaneous nodule or only regional disease, typically occurring on the head and neck, and involving entire dermis. Sometimes, subcutis and adnexal structures are involved, as well. The infiltrate is nodular or diffuse, composed of small to medium sized pleomorphic lymphocytes and showing mild to moderate cytologic atypia. Neoplastic T-cells are mixed with B-cells, histiocytes, plasma cells and eosinophils.|ORDO|N|
C5680504|A rare bleeding disorder in association with carrier mutations in the <i>F8</i> gene (Xq28) encoding coagulation factor VIII (FVIII), with a biological activity of FVIII &#8805;40 IU/dL and characterized clinically by abnormal bleeding as a result of minor injuries or following trauma, surgery or tooth extraction. Spontaneous hemorrhages may occur occasionally. Heavy menstrual bleeding is the most frequent type of bleed in the carriers.|ORDO|N|
C5680505|A rare bleeding disorder in association with carrier mutations in the <i>F9</i> gene (Xq27.1) encoding coagulation factor IX (FIX), with a biological activity of FIX &#8805;40 IU/dL and characterized clinically by abnormal bleeding as a result of minor injuries or following trauma, surgery or tooth extraction. Spontaneous hemorrhages may occur occasionally. Heavy menstrual bleeding is the most frequent type of bleed in the carriers.|ORDO|N|
C5680513|Precocious puberty caused by sex hormones.|MONDO|N|
C5680519|A rare neural tube closure defect with characteristics of partial lack of bone fusion resulting in sac-like protrusions of the brain and the membranes that cover it through the openings in the skull. Protruding tissue may be located on any part of the head but most often affects the occipital area. Depending in the size and location, encephalocele are often associated with neurological problems including intellectual disability, seizures, vision impairment, ataxia and hydrocephalus. This disorder is not associated with a polymalformative syndrome.|SNOMEDCT_US|N|
C5680522|Familial clubfoot with or without associated lower limb anomalies is a rare congenital limb malformation syndrome characterized by malalignment of the bones and joints of the foot and ankle, with presence of forefoot and midfoot adductus, hindfoot varus, and ankle equinus, presenting as rigid inward turning of the foot towards the midline, in various members of a single family. Hypoplasia of lower leg muscles is a frequently associated finding. Patients may present with other low-limb malformations, such as patellar hypoplasia, oblique talus, tibial hemimelia, and polydactyly.|ORDO|N|
C5680524|A rare genetic endocrine disease characterized by impaired secretion of the parathyroid hormone (PTH) by the parathyroid glands not causing other endocrine or developmental disturbances. Complications include impaired renal function, psychomotor and growth delay, delayed dentition, and cataracts.|ORPHANET|N|
C5680525|A intellectual disability that is part of a larger syndrome.|MONDO|N|
C5680568|An inherited disorder characterized by progressive degeneration and atrophy of the nervous system.|MONDO|N|
C5680577|An instance of sebaceous gland anomaly that is caused by a modification of the individual's genome.|MONDO|N|
C5680583|An instance of epidermal appendage anomaly that is caused by a modification of the individual's genome.|MONDO|N|
C5680589|Polymalformative genetic syndrome with increased risk of developing cancer (PGSIRC) comprises a wide range of syndromes characterized by congenital malformations with a high risk of developing tumors including up to 50 different rare diseases.|ORDO|N|
C5680596|An instance of peripheral neuropathy that is acquired during the lifetime of the individual.|MONDO|N|
C5680599|Primary orthostatic hypotension is a rare type of orthostatic hypotension. It is not a disease per se, but a condition caused by several disorders that affect a specific part of the autonomic nervous system, such as multiple system atrophy, young-onset Parkinson's disease, pure autonomic failure, dopamine beta-hydroxylase deficiency, familial dysautonomia, and pure autonomic failure among others. The autonomic nervous system is the part of the nervous system that regulates certain involuntary body functions such as heart rate, blood pressure, sweating, and bowel and bladder control. Orthostatic hypotension is a form of low blood pressure that happens when standing-up from sitting or lying down. Common symptoms may include dizziness, lightheadedness, generalized weakness, leg buckling, nausea, blurry vision, fatigue, and headaches. Additional symptoms can include chest pain (angina), head and neck pain (often affecting neck and shoulders with a coat hanger distribution), decline in cognitive functioning such as difficulty concentrating, temporary loss of consciousness or “blackout”. Some people with primary orthostatic hypotension may also have high blood pressure when lying down. The treatment depends upon several factors including the specific underlying cause including The treatment depends upon several factors including the specific underlying cause and may include physical counter-maneuvers like lying down, sitting down, squatting clenching buttocks, leg crossing, and support garment and medication.|MONDO|N|
C5680608|A inherited lipid metabolism disorder that is part of a larger syndrome.|MONDO|N|
C5680624|A craniosynostosis that is part of a larger syndrome.|MONDO|N|
C5680630|Unilateral choanal atresia is a, usually sporadic, congenital anomaly that is more commonly seen in females than in males (2:1), where the nose is blocked by bony or soft tissue formed during embryologic development on only one side (more commonly on the right side) and which is characterized by nasal obstruction and rhinorrhea, usually presenting at birth but that may go undetected until a respiratory infection aggravates the condition.|ORDO|N|
C5680633|Pinnae fistula or cyst is a rare otorhinolaryngological malformation characterized by the presence of a, usually unilateral, sinus tract or cyst located in the vicinity of the auricle (most frequently identified by a small pit near the anterior margin of the first ascending portion of the helix). Typically, patients are asymptomatic and usually only present symptoms (pain, erythema, discharge from pit) in relation to infection. Renal and inner ear anomalies may be associated.|ORDO|N|
C5680634|A rare otorhinolaryngological malformation with a unilateral or bilateral fistula located at the corner of the mouth, where the vermillion border of the upper lip meets that of the lower lip. The lesion is lined by labial mucosa. It is potentially susceptible to infection.|SNOMEDCT_US|N|
C5680665|Facial arteriovenous malformation is a rare vascular anomaly characterized by abnormal communication between arteries and veins, bypassing the capillary bed, located in the facial area. Lesions may be asymptomatic or may manifest with pain, ulceration, pulsation, tinnitus, minor bleeding or potentially life-threatening hemorrhage, blurred vision, impaired hearing, headache, paresthesia, enlargement of facial bones with intraosseous lesions, intraosseous hemangiomas, and speech, breathing and swallowing difficulties, as well as neuropathy.|ORDO|N|
C5680679|A rare non-syndromic cerebral malformation due to abnormal neuronal migration characterized by clusters of disorganized neurons in abnormal locations such as periventricular and subcortical. The extent of the lesions ranges from isolated single to bilateral confluent nodules. Pediatric patients typically show variable degrees of developmental delay, intellectual disability, and intractable epilepsy, and concomitant cerebral and/or systemic malformations are frequent. Milder forms may present with onset of seizures in adulthood.|ORDO|N|
C5680680|An instance of dementia that is caused by an inherited genomic modification in an individual.|MONDO|N|
C5680693|An instance of deficiency anemia that is acquired during the lifetime of the individual.|MONDO|N|
C5680696|A rare renal disease characterised by thrombotic microangiopathy developing de novo in kidney transplant recipients with no evidence of occurrence of the disease prior to transplantation. Precipitating factors include antibody-mediated rejection, immunosuppressive medication, viral infections and genetic abnormalities in the complement cascade, among others. The condition most commonly occurs within the first 3-6 months post-transplantation. Clinical presentation is highly variable and ranges from a limited form confined to the kidney with relatively good prognosis to a systemic variant consisting of the classic triad of thrombocytopenia, microangiopathic haemolytic anaemia and acute kidney injury.|SNOMEDCT_US|N|
C5680710|Congenital abnormalities caused by medicinal substances or drugs of abuse given to or taken by the mother, or to which she is inadvertently exposed during the manufacture of such substances. The concept excludes abnormalities resulting from exposure to non-medicinal chemicals in the environment.|MONDO|N|
C5680712|A rare vasculitis characterized by an inflammatory disease of blood vessels which cannot be assigned to any of the known categories of vasculitis. Clinical features are highly variable, depending on the nature and extent of the inflammatory process, as well as the type of vessels and organ systems involved.|ORDO|N|
C5680741|Posterior meningocele is a rare neural tube closure defect with characteristics of herniation of a cerebrospinal fluid-filled sac, that is lined by dura and arachnoid mater, through a posterior spina bifida and covered by a layer of skin of variable thickness, which may be dysplastic or ulcerated. The spinal cord and nerves are generally not included and function normally, although sometimes a tethered cord may be associated. They are most commonly located in the lumbar or sacral region.|SNOMEDCT_US|N|
C5680746|A rare secondary interstitial lung disease (ILD) characterized by development of the condition after exposure to certain drugs or radiation therapy. Diagnostic criteria include clear temporal association, identification of a characteristic reaction pattern to the respective drug, and exclusion of other causes of the ILD. Clinically, drug-induced ILD (DI-ILD) may occur as acute ILD with respiratory failure, or as subacute/chronic DI-ILD. Radiation injury to the lung can develop during or following radiation therapy and depends on the nature and dose of the ionizing radiation, as well as the direction of the radiation beam.|ORPHANET|N|
C5680770|Baraitser-Winter syndrome (BWS) is a malformation syndrome with characteristics of facial dysmorphism (hypertelorism with ptosis, broad bulbous nose, ridged metopic suture, arched eyebrows, progressive coarsening of the face), ocular coloboma, pachygyria and/or band heterotopias with antero-posterior gradient, progressive joint stiffening and intellectual deficit of variable severity, often with severe epilepsy. Pachygyria - epilepsy - intellectual disability - dysmorphism (Fryns-Aftimos (FA) syndrome) corresponds to the appearance of BWS in elderly patients. BWS and FA were initially considered separate entities. BWS is a genetically heterogeneous disorder, caused by a heterozygous mutation in one of the 2 genes coding for ubiquitously expressed actins: ACTB, located to 7p22-p12 (BRWS1) and ACTG1 on 17q25.3 (BRWS2). All mutations are missense and probably act by a gain of function mechanism, as deletions of the same genes do not result in BWS phenotype. All molecularly confirmed cases are sporadic, with, in theory, an autosomal dominant transmission, but effective transmission has never been reported.|SNOMEDCT_US|N|
C5680773|Unilateral focal polymicrogyria (BFPP) is the mildest sub-type of polymicrogyria (PMG; see this term), a cerebral cortical malformation characterized by excessive cortical folding and abnormal cortical layering, that affects only one small region of the brain and that may show no neurologic involvement.|ORDO|N|
C5680776|A rare congenital cerebellar malformation disorder with characteristics of complete or partial cerebellar vermis agenesis with no other associated malformations or anomalies. Patients may be asymptomatic although psychomotor delay, hypotonia and incoordination are usually associated. Additional variable manifestations include intellectual disability, oculomotor abnormalities (such as nystagmus, impaired smooth pursuit, impaired saccades, strabismus, ptosis and oculomotor apraxia), retinopathy, abnormal visual evoked potentials, ataxia and delayed gait acquisition, along with delayed speech and language development.|SNOMEDCT_US|N|
C5680783|A rare familial partial lipodystrophy with characteristics of severe partial lipoatrophy affecting the limbs, trunk, and abdomen, together with faciocervical fat accumulation. Additional manifestations include diabetes, acanthosis nigricans, liver steatosis and hypertriglyceridaemia, as well as low serum leptin and adiponectin levels. Severe cardiac rhythm and conduction disturbances have also been reported.|SNOMEDCT_US|N|
C5680786|A rare ophthalmic disorder with characteristics of a non-infectious uveitis potentially involving all parts of the uveal tract and due to a paraneoplastic autoimmune reaction. The signs and symptoms usually precede the neoplasm diagnosis and may include ocular redness and pain, light sensitivity, blurred vision, floaters and decreased vision. The most classic form is the intermediate uveitis associated with anti-CV2 antibodies in small-cell lung cancer or other neoplasms. Other ocular and/or extra-ocular manifestations are commonly present in addition.|SNOMEDCT_US|N|
C5680787|A rare X-linked syndromic intellectual disability which in symptomatic, female carriers has characteristics of a highly variable phenotype including facial dysmorphism (prominent forehead, hypertelorism, down-slanting palpebral fissures, epicanthic folds, thick lips with everted lower vermilion, thick nasal alae and septum), short hands with tapering fingers, short stature and skeletal findings (progressive kyphoscoliosis). Intellectual disability is mild to moderate, but intellect can also be normal. A high rate of psychiatric disorders has also been reported.|SNOMEDCT_US|N|
C5680799|An instance of skeletal muscle disease that is acquired during the lifetime of the individual.|MONDO|N|
C5680803|Autosomal dominant form of distal myopathy.|MONDO|N|
C5680810|A rare genetic syndromic intellectual disability disorder with characteristics of severe psychomotor development delay (without development of primary motor abilities and speech) and severe intellectual disability, associated with marfanoid habitus, joint laxity, bilateral hip luxation, hypotonia, scoliosis and characteristic facial dysmorphism (i.e. high nasal bridge, sharp nose, short philtrum, large mouth, full lips and maxillary hypoplasia).|SNOMEDCT_US|N|
C5680822|A rare acquired peripheral neuropathy characterized by symmetric, slowly progressive, predominantly sensory neuropathy, mostly limited to the legs with numbness and paresthesia of the distal leg and mild imbalance. Some patients may experience pain, weakness of foot dorsiflexion, mild proximal leg weakness, and/or upper limb involvement. The majority of patients have IgG monoclonal gammopathy. Systemic illnesses are absent in most cases.|ORPHANET|N|
C5680825|An instance of hypoparathyroidism that is caused by an inherited genomic modification in an individual.|MONDO|N|
C5680826|An instance of hyperparathyroidism that is caused by an inherited genomic modification in an individual.|MONDO|N|
C5680856|A group of rare, genetic, motor neuron disease characterized by childhood or adult onset progressive, predominantly proximal, muscular weakness and wasting. Included diseases are Autosomal dominant adult-onset proximal spinal muscular atrophy, Lower motor neuron syndrome with late-adult onset, and Autosomal dominant childhood-onset proximal spinal muscular atrophy.|ORDO|N|
C5680862|An instance of partial epilepsy that is caused by an inherited modification of the individual's genome.|MONDO|N|
C5680865|A rare progressive and life-threatening anomaly of the great vessels characterized by narrowing and obstruction of one or more normally positioned pulmonary vein at their junction with the left atrium. Presentation is typically during early infancy with dyspnea, tachypnea, and repeated pulmonary infections. Eventually, when all pulmonary veins of one lung are affected, the disorder results in pulmonary hypertension (PH) and consecutive pulmonary arterial hypertension (PAH). It may manifest as an isolated lesion or associated with other cardiac defects such as congenital pulmonary venous return anomaly and septal defects.|ORDO|N|
C5680872|Congenital abnormalities of the aortic arch result from aberrant development of one or more components of the embyronic pharangeal arch system. Any component of tihs system can regress or persist abnormally, resulting in an extensive array of aortic arch anomalies. Clinically, they are classified by those that cause (or are likely to cause) physiolgogical abnormalities and those that do not. Physiologic abnormalities include tracheobronchial compression, esophageeal compression, and abnormal blood flow patteren.|MONDO|N|
C5680883|An instance of hypertrophic cardiomyopathy that is acquired during the lifetime of the individual.|MONDO|N|
C5680893|Permanent congenital hypothyroidism is a type of congenital hypothyroidism (CH; see this term), a thyroid hormone deficiency present from birth.|ORDO|N|
C5680904|A agammaglobulinemia that is part of a larger syndrome.|MONDO|N|
C5680907|A rare acquired dermis elastic tissue disorder characterized by multiple, asymptomatic firm well-demarcated nonfollicular hypopigmented or skin-colored papules, with a diameter of less than 1 cm, distributed symmetrically over trunk and/or proximal limbs (rarely, head, neck, shoulders, armpits, thighs) and with no extracutaneous manifestations. Histopathology typically reveals decreased and fragmented elastic fibers, thickened and/or homogenized collagen bundles and in some a mild perivascular lymphocytic infiltrate in the dermis.|SNOMEDCT_US|N|
C5680914|A rare neurologic movement disorder characterized by sustained muscle contractions of a single body region, usually producing twisting and repetitive movements or abnormal postures or positions.|ORDO|N|
C5680915|Beta-thalassemias with other manifestations are a group of beta-thalassemias (see this term) associated with another disorder.|ORDO|N|
C5680925|Surgically correctable forms of primary aldosteronism (also known as primary hyperaldosteronism; see this term) are characterized by unilateral aldosterone hypersecretion and renin suppression, associated with varying degrees of hypertension and hypokalemia.|ORDO|N|
C5680927|A branchial arch syndrome with characteristics of supernumerary nipples, preauricular appendages and often binocular epibulbar lipodermoids or unilateral subconjunctival lipodermoids.|SNOMEDCT_US|N|
C5680928|This term refers to a group of diseases characterized by alpha-thalassemia and an associated disorder. Three conditions are included in this group: alpha thalassemia - X-linked intellectual deficit (or ATR-X syndrome), alpha-thalassemia-intellectual deficit syndrome (or ATR-16 syndrome) and alpha-thalassemia-myelodysplastic disease (or ATMDS).|ORDO|N|
C5680932|A rare intestinal disorder characterized by the inability to control the passage of rectal contents (feces, gas) through the anus following ileal pouch-anal anastomosis surgery. Fecal incontinence is usually more frequent during the night than during daytime. The condition generally worsens over time with a significant negative impact on the quality of life of the patient.|SNOMEDCT_US|N|
C5680958|Mixed autoinflammatory and autoimmune syndrome is a group of systemic diseases characterized by mixed patterns of dysregulated innate and/or adaptive immune responses, leading to chronic activation of the immune system and tissue inflammation, which presents clincally with a wide range of variable, concomitant, autoimmune and autoinflammatory manifestations in various organ systems.|ORDO|N|
C5680966|A group of rare renal tubular diseases characterized by primary defects in bicarbonate reabsorption from urine (proximal renal tubular acidosis) and/or hydrogen excretion into the lumen (distal renal tubular acidosis), resulting in metabolic acidosis with hyperchloremia and a normal plasma anion gap. The glomerular filtration rate is relatively normal.|ORDO|N|
C5680970|An instance of syringomyelia that is caused by an inherited modification of the individual's genome.|MONDO|N|
C5681004|An inherited metabolic disease that is has its basis in the disruption of proline metabolic process.|MONDO|N|
C5681009|Non-rhizomelic chondrodysplasia punctata is a form of chondrodysplasia punctata (see this term), a group of diseases in which the common characteristic is bone calcifications near joints from birth. Non-rhizomelic chondrodysplasia punctata is not an entity in itself but covers several diseases with variable clinical findings and modes of transmission.|ORDO|N|
C5681013|A rare form of glycerol kinase deficiency (GKD) characterized by pseudohypertriglyceridemia in otherwise healthy adults and diagnosed fortuitously.|ORDO|N|
C5681016|A oculocutaneous albinism that is part of a larger syndrome.|MONDO|N|
C5681029|Juvenile glycerol kinase deficiency (GKD) is an uncommon form of GKD (see this term) characterized by Reye-like clinical manifestations including episodic vomiting, acidemia, and disorders of consciousness.|ORDO|N|
C5681030|An inherited metabolic disease that is has its basis in the disruption of magnesium ion transport.|MONDO|N|
C5681041|A disease that has its basis in the disruption of protein O-linked glycosylation.|MONDO|N|
C5681044|A disease that has its basis in the disruption of protein N-linked glycosylation.|MONDO|N|
C5681068|Erythrokeratoderma variabilis progressiva (EKVP) is a type of erythrokeratoderma characterized by the association of hyperkeratosis and erythema in persistent, although sometimes variable, circumscribed lesions. Progressive symmetric erythrokeratoderma (PSEK) and erythrokeratoderma variabilis (EKV) are probably no longer two distinctive diseases but rather the two clinical manifestations of a same disease, now known as EKVP.|ORDO|N|
C5681074|An inherited metabolic disease that is has its basis in the disruption of aminoacylase activity.|MONDO|N|
C5681081|A rare genetic complex cerebral cortical malformation characterized by generalized or focal dysgyria (also named polymicrogyria-like cortical dysplasia) or alternatively by microlissencephaly with dysmorphic basal ganglia and dysgenesis of the corpus callosum. Clinical manifestations are variable and include microcephaly, seizures, hypotonia, developmental delay, severe psychomotor delay, ataxia, spastic diplegia or tetraplegia, and ocular abnormalities (strabismus, ptosis or optic atrophy).|SNOMEDCT_US|N|
C5681090|A rare congenital knee dislocation characterized by permanent knee flexion with limited extension. It can be unilateral or bilateral and may occur as an isolated malformation or be part of a syndrome (especially arthrogryposis multiplex congenita).|ORDO|N|
C5681093|A rare bone disease characterized by secondary hyperparathyroidism in patients with chronic renal failure, caused by improper treatment in the early stages of the disease with retention of phosphorus, vitamin D deficiency and disturbed calcium-phosphorus metabolism, which result in increased parathyroid hormone levels. Patients present with short stature, severe changes of the skull and jaws as well as other skeletal deformities, dental anomalies, brown tumors in the mouth, hearing loss, and neuropsychiatric disorders.|SNOMEDCT_US|N|
C5681094|A rare genetic parenchymatous liver disease with characteristics of infantile or early childhood onset of recurrent episodes of acute liver failure precipitated by a febrile illness. During the life-threatening episodes, patients present with vomiting, lethargy, jaundice as well as elevated levels of liver enzymes and coagulopathy. There is usually complete recovery between the episodes with conservative treatment.|SNOMEDCT_US|N|
C5681095|A rare neoplastic disease characterized by occurrence of atypical and aggressive gastric type 1 neuroendocrine tumors (NET) in early adulthood. The tumors often show nodal infiltration requiring total gastrectomy. Synchronous gastric adenocarcinoma has also been reported. Patients present high serum gastrin concentrations and iron-deficiency anemia rather than megaloblastic anemia, which is a typical feature in patients with sporadic gastric type 1 NET where the tumor usually arises on the background of autoimmune atrophic gastritis.|SNOMEDCT_US|N|
C5681097|A rare vascular anomaly or angioma with characteristics of multifocal malformed lymphatic channels lined by clusters or sheets of spindled lymphatic endothelial cells with a predilection for the thoracic cavity, but also involving extra-thoracic locations, especially bones and spleen. Typical clinical signs and symptoms are pericardial and pleural effusions, cough, dyspnea, bleeding and fractures secondary to bone involvement. Prognosis is generally poor due to the progressive nature of the condition.|SNOMEDCT_US|N|
C5681098|A rare renal tumour characterised by a benign epithelial (metanephric adenoma), biphasic (metanephric adenofibroma) or renal stromal (metanephric stromal tumour) neoplasm. Metanephric adenoma mostly occurs in the fifth to sixth decade of life with distinct female predominance. It may be asymptomatic or present with abdominal pain, haematuria, and/or polycythaemia. Metanephric adenofibroma has been described from infancy to young adulthood, potentially causing polycythaemia or haematuria. Metanephric stromal tumour typically presents in infancy or childhood as an abdominal mass, sometimes manifestations of extrarenal vasculopathy such as hypertension or haemorrhage.|SNOMEDCT_US|N|
C5681099|A rare acquired subepidermal autoimmune bullous disease with characteristics of polymorphic cutaneous lesions (blisters, urticarial lesions or scars/milia) associated with immunoglobulin G deposition in the basement membrane zone. Lesions are frequently localised on extremities, trunk, palmoplantar and cephalic areas as well as mucous membranes. The disease predominantly affects elderly people. The exact aetiology is unknown but may be related to laminin gamma-1, consistent with the identified characteristics of the p200 protein (an acidic non-collagenous N-linked glycoprotein localised within the lower lamina lucida outside of hemidesmosomes).|SNOMEDCT_US|N|
C5681100|A group of human prion diseases characterized by progressive, invariably fatal neurodegeneration resulting from accidental transmission of prions. The group comprises iatrogenic Creutzfeldt-Jakob disease (CJD), which results from transmission of CJD prions in the course of medical procedures or treatments, and variant CJD (transmission via consumption of products from prion-diseased cows or via blood transfusion from an affected individual).|ORDO|N|
C5681102|A rare haematologic disease characterised by high serum viscosity due to polyclonal expansion of immunoglobulins, most commonly in the context of Waldenström macroglobulinaemia, as well as a variety of disorders of immune dysregulation. Patients present with signs and symptoms involving multiple organs, such as bleeding diathesis, mucosal bleeding, retinal haemorrhage, headache, stroke, pulmonary hypertension and congestive heart failure.|SNOMEDCT_US|N|
C5681104|A rare genetic disease with characteristics of a variable clinical phenotype, which includes similar features but is typically less severe than in affected males. Patients may present with mild to borderline intellectual disability, anxiety, social phobia, selective mutism, attention deficit hyperactivity disorder, language deficit, neurologic signs and symptoms (such as seizures, hypotonia, and clonus), ophthalmologic anomalies (strabismus, refractive errors), and facial dysmorphism (including long face, prominent forehead, large, prominent ears, and mandibular prognathism).|SNOMEDCT_US|N|
C5681108|A rare genetic skin disease with characteristics of infantile onset of diffuse alopecia, abnormal skin pigmentation (hypo and hyperpigmented macules of the trunk and face and areas of reticular hypo and hyperpigmentation of the extremities), palmoplantar keratoderma and nail dystrophy. Patients develop recurrent spinocellular carcinomas later in life. Brittle teeth resulting in early loss of dentition have also been described.|SNOMEDCT_US|N|
C5681116|A group of rare lymphatic malformation disorders characterized by solitary or multifocal, benign, congenital malformation of the lymphatic vessels in the soft tissues, resulting in painless cystic lesions, which are predominantly found in the head and neck (but may affect any site), and which have varying clinical presentation depending on specific size and location of lesion. Categorization into macrocystic lympathic malformations, microcystic lymphatic malformations or mixed cystic lymphatic malformations is reported based on the size of the cyst(s) contained within the lesion. Functional deficits and compromise of vital functions (including breathing, feeding) may be observed.|ORDO|N|
C5681121|A rare genetic syndromic intellectual disability characterised by mild to severe intellectual disability associated with variable features, including hypotonia, dyskinesia, spasticity, wide-based gait, microcephaly, epilepsy and behavioural problems. MRI imaging may show a corpus callosum hypoplasia or ventricular enlargement. Other variable features such as joint hyperlaxity, skin pigmentary abnormalities and visual impairment have also been reported.|SNOMEDCT_US|N|
C5681122|A multiple congenital anomalies syndrome characterised by borderline to severe intellectual disability, speech delay, short stature, elevated body mass index, a pattern of truncal obesity (reported in older males) and variable neurologic features (e.g. hypotonia, tremors, gait disturbances, behavioural problems and seizure disorders). Less common manifestations include microcephaly, microorchidism and/or microphallus. Dysmorphic features have been reported in some patients but no consistent pattern has been noted.|SNOMEDCT_US|N|
C5681123|A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of overgrowth and macrocephaly with megalencephaly apparent at birth, global developmental delay, intellectual disability and dysmorphic facial features (including frontal bossing, long face, sparse eyebrows, hypertelorism, downslanting palpebral fissures, and prognathism). Patients may exhibit tall stature with dolichostenomelia, arachnodactyly, kyphoscoliosis and joint laxity, as well as neurologic manifestations, such as hypotonia, gait ataxia, or seizures. Brain imaging may show increased white matter volume, thick corpus callosum or small cerebellum.|SNOMEDCT_US|N|
C5681124|A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of intellectual disability, developmental delay, delayed bone age, short stature, generalized muscle weakness and dysmorphic facial features (such as high arched eyebrows, downslanting palpebral fissures, prominent nose and narrow palate and mouth). Additional reported manifestations include blue sclerae, ophthalmoplegia and intention tremor. Brain imaging may show white matter abnormalities.|SNOMEDCT_US|N|
C5681127|A rare congenital non-syndromic nose and cavum malformation with characteristics of the presence of a bulbous, soft tissue hypertrophy located in the middle-to-distal third of the nasal dorsum, in association with deformed, slightly laterally and caudally-placed nasal alae and a scar-like atrophic skin lesion located at the nasal tip. Respiratory function is not affected.|SNOMEDCT_US|N|
C5681129|WAC-related intellectual disability (ID) is typically characterized by variable degrees of developmental delay and/or intellectual disability. Behavioral abnormalities including anxiety, attention-deficit/hyperactivity disorder, and/or autism spectrum disorder are observed in the majority of older children and adults. Most affected infants have significant but nonspecific features at birth such as neonatal hypotonia and feeding problems. Some affected individuals come to medical attention with respiratory or vision problems. Facial features may be mildly dysmorphic, but are nonspecific. To date, 18 individuals have been identified with WAC-related ID.|GeneReviews|N|
C5681130|An instance of otorhinolaryngologic disease that is caused by a modification of the individual's genome.|MONDO|N|
C5681154|A rare clinical situation occurring in the context of Parkinson disease with characteristics of return or worsening of symptoms (including motor and/or non-motor symptoms) under antiparkinsonian therapy. Types of off-periods are Morning Off (experienced before the first dose of the day), Delayed On (occurring more frequently after the first dose of the day or after meals), Wearing Off (end-of-dose deterioration), Sudden Off (sudden transition from on to off) and Dose Failure.|SNOMEDCT_US|N|
C5681165|A rare, genetic male infertility due to a sperm disorder characterized by the absence of a measurable amount of spermatozoa in the ejaculate (azoospermia), or a number of sperm in the ejaculate inferior to 15 million/mL (oligozoospermia), resulting from a mutation in a single gene known to cause azoo- or oligo-spermia. Sperm morphology may be normal.|ORDO|N|
C5681177|A rare primary bone dysplasia with characteristics of proportional short stature, early cessation of bone growth, accelerated skeletal maturation, variable presence of early-onset osteoarthritis and osteochondritis dissecans and normal endocrine evaluation. The variable dysmorphic features include mild to relative macrocephaly, frontal bossing, midfacial hypoplasia, flat nasal bridge, brachydactyly, broad thumbs and lordosis. Caused by heterozygous mutation in the ACAN gene on chromosome 15q26.|SNOMEDCT_US|N|
C5681178|A rare syndromic intellectual disability with characteristics of hypotonia, microcephaly, severe developmental delay, seizures, intellectual disability, growth retardation, cardiac septal defects, cryptorchidism, hypospadias and dysmorphic features - prominent ears, prognathism, thin upper lip, dental crowding. Caused by mutation in the RPL10 gene on chromosome Xq28.|SNOMEDCT_US|N|
C5681179|A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of profound intellectual disability, hypotonia, coarse facial features, strabismus and impaired visual fixation, hypermobility of interphalangeal joints, contractures in the elbow joints and pes planovalgus. Seizures and episodes of aggressive behavior during sleep have also been reported.|SNOMEDCT_US|N|
C5681180|A rare genetic endocrine disease with characteristics of intrauterine growth restriction, failure of an adolescent growth spurt with proportional adult short stature, insulin resistance and early adulthood-onset diabetes. Minimal subluxation of the fifth metacarpal-phalangeal joint has been reported, while metaphyseal dysplasia is absent. Testicular volume is low, but fertility is normal. There is no evidence of primary adrenal insufficiency.|SNOMEDCT_US|N|
C5681181|A rare genetic disease with characteristics of severe pre and postnatal growth failure with short stature and microcephaly, facial dysmorphism (including a small jaw and prominent midface), severe insulin resistance, fatty liver, hypertriglyceridemia developing in childhood and primary gonadal failure. Mild global learning difficulties and acanthosis nigricans have also been reported.|SNOMEDCT_US|N|
C5681182|A rare genetic cardiac disease with characteristics of variably expressed atrial tachyarrhythmia (such as atrial flutter, paroxysmal or chronic atrial fibrillation, ectopic atrial tachycardia, or multifocal atrial tachycardia), infra-Hisian conduction system disease and vulnerability to dilated cardiomyopathy. The age of onset ranges between childhood and adulthood.|SNOMEDCT_US|N|
C5681186|PDE4D haploinsufficiency syndrome is a rare syndromic intellectual disability with characteristics of developmental delay, intellectual disability, low body mass index, long arms, fingers and toes, prominent nose and small chin.|SNOMEDCT_US|N|
C5681187|A rare ophthalmic disorder characterized by visual abnormalities (such as myopia, strabismus, or amblyopia) due to the presence of myelinated retinal nerve fibers, which appear as whitish patches with feathery edges at the level of the retinal nerve fiber layer and may be continuous or discontinuous with the optic nerve head. The defect can be unilateral or bilateral.|ORDO|N|
C5681196|A rare endocrine disease characterised by severe chronic hypernatraemic dehydration caused by decreased intake of water based on impaired thirst perception due to a selective defect in hypothalamic osmoregulation of thirst. Structural hypothalamic lesions are absent and arginine vasopressin secretion is normal.|SNOMEDCT_US|N|
C5681197|A rare genetic lethal multiple congenital anomalies/dysmorphic syndrome with characteristics of mid-gestation lethality and features of a ciliopathy. Clinical manifestations include hydrocephalus, cerebellar vermis hypoplasia, corpus callosum agenesis, duodenal atresia, gastrointestinal malrotation, bilateral renal hypoplasia and dysmorphic craniofacial features (such as microcephaly, hypertelorism, low-set ears, prominent nose, short columella, cleft palate, micrognathia and wide mouth).|SNOMEDCT_US|N|
C5681198|A group of rare genetic developmental defect during embryogenesis disorders characterized by varying degrees of caudal abdomen, pelvic, renal, anorectal, urogenital and/or lumbosacral spine malformations, with or without lower limb fusion. Phenotype is highly variable ranging from minor forms with isolated coccygeal agenesis to severe forms presenting with a single rudimentary limb. Central nervous system anomalies have also been reported.|ORDO|N|
C5681199|A rare functional neutrophil defect characterized by increased susceptibility to aggressive periodontitis in otherwise young, healthy individuals, due to impaired polymorphonuclear leukocyte chemotaxis toward bacterial formyl peptides. The periodontitis is rapidly progressive with progredient destruction of periodontal tissue and attachment loss.|SNOMEDCT_US|N|
C5681203|A rare inborn error of metabolism with characteristics of severe neonatal encephalopathy with EEG abnormalities, increased serum lactate, little or no psychomotor development and sometimes death in infancy. Brain imaging may show cortical atrophy, enlarged ventricles, delayed myelination and white matter abnormalities among others.|SNOMEDCT_US|N|
C5681209|A epithelial neoplasm that involves the anal canal.|MONDO|N|
C5681220|A rare neoplastic disease characterized by infantile to childhood onset of evidence of bone marrow insufficiency/failure associated with increased risk for myelodysplastic syndrome or acute myeloid leukemia. Most patients present with petechiae, easy bruising, or anemia. Rapid progression is common, and prognosis is generally poor.|ORDO|N|
C5681240|A rare ciliopathy with major skeletal involvement with characteristics of short ribs, micromelia, limb bowing, polysyndactyly, absent ossification of the radii, tibiae and fibulae, as well as the bony elements of the hands and feet and hypoplastic scapulae. Additional hallmarks of ciliopathy disease such as laterality defects and cystic kidneys have also been observed.|SNOMEDCT_US|N|
C5681244|A rare hereditary disease with peripheral neuropathy with characteristics of distal sensorimotor or motor neuropathy of the lower limbs with muscle weakness and atrophy. Some patients show overt connective tissue disease with signs and symptoms like increased skin elasticity and easy bruising (but no atrophic scarring), decreased clotting, aortic aneurysms, joint hypermobility and recurrent tendon ruptures.|SNOMEDCT_US|N|
C5681246|An instance of schizencephaly that is acquired during the lifetime of the individual.|MONDO|N|
C5681250|A type 1 interferonopathy that occurs during childhood.|MONDO|N|
C5681258|Conditions in which increased type 1 interferon signaling leads to autoimmune and neurological disorders. These disorders are caused by variants in genes involved in nucleic acid metabolism, sensing, and the innate immune response.|MONDO|N|
C5681265|An instance of lethal multiple congenital anomalies/dysmorphic syndrome that is caused by an inherited modification of the individual's genome.|MONDO|N|
C5681270|Brachydactyly ('short digits') is a general term that refers to disproportionately short fingers and toes, and forms part of the group of limb malformations characterized by bone dysostosis.|ORDO|N|
C5681271|A rare genetic disorder of magnesium transport characterized by infantile onset of generalized seizures and severe hypomagnesemia due to massive renal magnesium wasting. Seizures persist despite magnesium supplementation and are associated with significant global developmental delay and intellectual disability. Brain MRI may show reduced cerebral volume.|SNOMEDCT_US|N|
C5681277|An inherited metabolic disease that is has its basis in the disruption of sterol metabolic process.|MONDO|N|
C5681282|An inherited metabolic disease that is has its basis in the disruption of generation of precursor metabolites and energy.|MONDO|N|
C5681285|An inherited metabolic disease that is has its basis in the disruption of pyridoxine metabolic process.|MONDO|N|
C5681286|An inherited metabolic disease that is has its basis in the disruption of serine family amino acid metabolic process.|MONDO|N|
C5681287|An inherited metabolic disease that is has its basis in the disruption of sterol biosynthetic process.|MONDO|N|
C5681305|A rare genetic primary lymphoedema characterised by lymphoedema of all four limbs with age of onset ranging from birth to adulthood. Manifestations are of variable severity, and upper limb involvement may develop only later in the disease course. Recurrent episodes of cellulitis and skin infections are observed in severe cases. Varicose veins and venous incompetence have been reported in association.|SNOMEDCT_US|N|
C5681306|A channelopathy that involves the muscle tissue.|MONDO|N|
C5681312|A rare genetic intellectual disability malformation syndrome with characteristics of global developmental delay, intellectual disability, delayed speech and language development, epilepsy, autistic behavior and moderate facial dysmorphism (including elongated face, narrow forehead, arched eyebrows, horizontal palpebral fissures, hypertelorism, epicanthus, midface flattening, short nose, long and featureless philtrum, thin upper lip, macrostomia and prominent chin). Additional variable manifestations include microcephaly, hypotonia, hypertrichosis and strabismus.|SNOMEDCT_US|N|
C5681314|A rare congenital autosomal recessive axonal hereditary motor and sensory neuropathy disease characterised by axonal neuropathy, manifesting at birth or shortly thereafter with generalised muscular hypotonia, prominently distal muscular weakness, respiratory/swallowing difficulties and diffuse areflexia, associated with central nervous system involvement, which includes progressive microcephaly, seizures, and global developmental delay. Additional variable manifestations include hearing impairment, ocular lesions, skeletal anomalies (e.g. talipes equinovarus, overriding toes, scoliosis, joint contractures), cryptorchidism, and dysmorphic features (such as coarse facies, hypertelorism, high-arched palate). Outcome is typically poor due to respiratory insufficiency and/or aspiration pneumonia.|SNOMEDCT_US|N|
C5681317|A rare subtype of pyoderma gangrenosum characterized by multiple painful, sterile pustules with a surrounding erythematous halo, predominantly occurring on the trunk and extensor surfaces of the limbs, and potentially persisting for months. Histopathology shows a dermal neutrophilic infiltrate and subcorneal neutrophilic micropustules. The condition is commonly associated with inflammatory bowel disease.|ORDO|N|
C5681319|A rare potentially lethal intoxication with characteristics of life-threatening arrhythmias (sinus tachycardias, premature ventricular contractions, ventricular arrhythmias), anticholinergic toxidrome (mydriasis, dry mucous membrane, tachycardia, hypertension), central nervous system toxicity (lethargy, coma, myoclonic jerks), refractory hypotension and sudden death.|SNOMEDCT_US|N|
C5681321|A rare mitochondrial disease with characteristics of a variable clinical phenotype with the core features of optic atrophy, ataxia and hypotonia. Additional common manifestations include global developmental delay with or without regression, neuropathy, spasticity, and microcephaly, less frequently seizures, movement disorder, hearing loss and respiratory failure. Brain imaging may show abnormalities of the corpus callosum, basal ganglia and midbrain, cerebral or cerebellar atrophy, or white matter abnormalities. The condition is frequently fatal at an early age.|SNOMEDCT_US|N|
C5681324|A rare genetic disease characterized by the association of Fanconi syndrome and nephrocalcinosis in addition to neonatal hyperinsulinism and macrosomia. Patients display a phenotype of proximal tubulopathy characterized by generalized aminoaciduria, low molecular weight proteinuria, glycosuria, hyperphosphaturia and hypouricemia. There are also additional features not normally seen in Fanconi syndrome (apart from nephrocalcinosis), namely renal impairment, hypercalciuria with relative hypocalcemia and hypermagnesemia.|SNOMEDCT_US|N|
C5681328|A subtype of inflammatory pseudotumor of the liver characterized by a benign, well-circumscribed tumor with fibrohistiocytic infiltration (including xanthogranulomatous inflammation, multinucleated giant cells, and neutrophilic infiltration), typically localized in the peripheral hepatic parenchyma. Presentation may be of non-specific symptoms (fever, malaise, and abdominal pain) or as an incidental finding.|ORDO|N|
C5681331|An inborn condition characterized by deficiencies of red cell precursors that sometimes also includes leukopenia and thrombocytopenia.|MONDO|N|
C5681333|A rare genetic neurological disorder characterised by paediatric onset of calcifying leucoencephalopathy and skeletal dysplasia. Reported structural brain abnormalities include agenesis of corpus callosum, ventriculomegaly, congenital hydrocephalus, pontocerebellar hypoplasia, periventricular calcifications, Dandy-Walker malformation and absence of microglia. Characteristic skeletal features include increased bone mineral density (reported in skull, pelvic bone and vertebrae), platyspondyly, and under-modelling of tubular bones with widened/radiolucent metaphysis and constricted/sclerotic diaphysis.|SNOMEDCT_US|N|
C5681334|A rare genetic multiple congenital anomalies/dysmorphic syndrome with the association of pancreatic agenesis and lobar/semilobar holoprosencephaly. Insulin-dependent diabetes mellitus and pancreatic exocrine deficiency manifest early after birth. Additional reported manifestations include intrauterine growth retardation, muscle weakness, seizures, mild intellectual disability, dysmorphic craniofacial features and agenesis of the gallbladder.|SNOMEDCT_US|N|
C5681336|A rare genetic neurometabolic disease with characteristics of childhood onset of global developmental delay, progressive spastic ataxia leading to loss of independent ambulation and elevated plasma levels of glutamine. Optic atrophy, tremor and dysarthria have also been reported. Brain imaging may show cerebellar atrophy.|SNOMEDCT_US|N|
C5681341|A rare palpebral disorder characterized by recurrent episodes of painless eyelid edema. It usually occurs bilaterally, typically affects the upper eyelids, and may manifest as a hypertrophic form resulting in orbital fat herniation through a weakened orbital septum, or an atrophic form with atrophy of redundant eyelid skin and superior nasal fat pads. Additional findings are formation of pseudo epicanthal folds, lacrimal gland prolapse or ptosis.|SNOMEDCT_US|N|
C5681342|A rare disorder of the anterior segment of the eye with characteristics of the presence of an unusually small and spherical lens with increased anteroposterior thickness, and visibility of the lens equator on full mydriasis. The condition is typically bilateral and may be associated with lens dislocation or subluxation, lenticular myopia and secondary angle-closure glaucoma.|SNOMEDCT_US|N|
C5681345|A rare hepatic disease with characteristics of graft infection with the hepatitis B virus (HBV) after liver transplantation, due to persistence and reactivation of HBV in extrahepatic sites (also despite previous clearance of the hepatitis B surface antigen from serum, as shown by laboratory examination), followed by re-invasion of the graft. It may develop between two weeks and several years post transplantation. Clinico-pathological features are variable and range from mild self-limited hepatitis, chronic active hepatitis, and fulminant hepatitis, to fibrosing cholestatic hepatitis. The condition is associated with significantly reduced graft survival rates and overall patient survival.|SNOMEDCT_US|N|
C5681349|A rare hepatic disease with characteristics of recurrence of hepatitis C virus infection after liver transplantation, leading to liver injury with features resembling those observed in the non-transplant graft, and typically developing after three months post-transplantation. The clinical course is highly variable, although patients most commonly develop progressive chronic liver disease with higher viral loads and more rapid fibrosis progression than in the immunocompetent population.|SNOMEDCT_US|N|
C5681350|A rare systemic condition affecting neonates born at less than 37 weeks gestational age with characteristics of life-threatening organ dysfunction caused by a dysregulated host response to an infection, which may have been acquired shortly before or during birth (resulting in early-onset neonatal sepsis during the first 72 hours of life), or after birth (leading to late-onset neonatal sepsis between 72 hours and three months). Prematurity constitutes one of the primary risk factors for neonatal sepsis. The clinical picture may develop gradually with signs and symptoms like irritability, lethargy or poor feeding, or progress rapidly to respiratory distress, fever, hypothermia, hypotension, shock, and multiple organ failure.|SNOMEDCT_US|N|
C5681365|A group of rare, congenital, non-syndromic distal limb malformation disorders characterized by webbing or fusion of the fingers or toes, involving soft parts only or including bone structure. The morphological anomaly can be unilateral or bilateral, symmetrical or asymmetrical, depending on the specific type.|ORDO|N|
C5681441|A rare intestinal disease characterized by immune-mediated injury of the intestinal mucosa, leading to severe, chronic, intractable diarrhea, malabsorption, and severe weight loss or failure to thrive. Characteristic histologic findings in the small intestine include partial or complete blunting of the villi, deep crypt lymphocytosis, increased crypt apoptosis, and minimal surface intraepithelial lymphocytosis. In addition, the stomach, colon, and esophagus may also be involved. Circulating autoantibodies against enterocytes and/or goblet cells are found in many, but not all, patients. The diagnosis requires exclusion of other causes of villous atrophy.|ORDO|N|
C5681442|A rare genetic systemic or rheumatologic disease with characteristics of infantile onset of skin anomalies (such as delayed wound healing with atrophic scars and mild alopecia with dry and brittle hair), retinal rod degeneration with night blindness, degenerative myopathy with muscle weakness, myalgia, and cramps, osteoarthritis, joint laxity, prolapse of internal organs, floating kidney syndrome, malabsorption syndrome and hypothyroidism. The phenotype has been reported to be more severe in women than in men.|SNOMEDCT_US|N|
C5681443|A rare genetic disease with a highly variable phenotype comprising ocular anomalies (congenital glaucoma, myopia, retinal detachment, and/or Axenfeld-Rieger anomaly), congenital hypothyroidism, hearing loss, microcephaly, dental defects, kidney anomalies, cerebrovascular anomalies and distal limb anomalies. Dysmorphic facial features may include square face with prominent jaw, broad flat nasal bridge, short philtrum and prominent ears.|SNOMEDCT_US|N|
C5681444|A rare genetic disease with characteristics of congenital cataract, neonatal hepatic failure, cholestatic jaundice and global developmental delay. Neonatal death due to progressive liver failure has been reported.|SNOMEDCT_US|N|
C5681446|A rare radiation-induced disorder with characteristics of impairment of the peripheral nervous system at the level of the brachial or lumbosacral plexus following radiation therapy. Onset of symptoms can occur between several months up to decades after the last dose of radiation. Patients with radiation-induced brachial plexopathy typically present with mostly unilateral progressive paraesthesia, followed by weakness, atrophy and pain. Symptoms in radiation-induced lumbosacral plexopathy include more variable combinations of numbness, paraesthesia, pain and weakness and are more often bilateral.|SNOMEDCT_US|N|
C5681454|A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of congenital diaphragmatic hernia, short bowel, and asplenia. Dysmorphic facial features include long forehead, hypertelorism, upturned nares and small mandible. Atresia of the duodenum has also been reported.|SNOMEDCT_US|N|
C5681458|A rare mitochondrial disease with characteristics of a variable phenotype comprising delayed psychomotor development or neurodevelopmental regression, hypotonia, seizures, microcephaly, optic atrophy, pyramidal signs, and peripheral neuropathy among others. Age of onset and disease severity is also variable with some cases taking a fatal course in early infancy. Serum lactate levels may be elevated. Reported brain imaging findings include abnormal signals in the basal ganglia, cerebral and/or cerebellar atrophy and white matter abnormalities.|SNOMEDCT_US|N|
C5681463|Scleromyxedema without monoclonal gammopathy is a form of atypical lichen myxedematosus (see this term), characterized by a generalized sclerodermoid infiltration of skin studded with multiple, firm papules of 1-3 mm in diameter involving face (leonine appearance), trunk, and limbs, without monoclonal gammopathy. The involvement of the face can be missing and pruritus may be prominent.|ORDO|N|
C5681465|Localized lichen myxedematosus (LM) with mixed features of different subtypes is a form of atypical lichen myxedematosus, characterized by mixed features of the 5 subtypes of localized LM which are: discrete papular LM, acral persistent papular mucinosis, self-healing papular mucinosis, papular mucinosis of infancy, and nodular LM.|MONDO|N|
C5681466|Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms is a form of atypical lichen myxedematosus, characterized by the appearance of several 2-4 mm erythematous waxy papules confined to a few sites that may be associated with either an immunoglobulin A (IgA) nephropathy in patients with acral persistent papular mucinosis; discrete papular lichen myxedematosus; a scleromyxedema-like involvement, with dysphagia, hoarseness, pulmonary involvement, and carpal tunnel syndrome; myositis without skin sclerosis; or paraproteinemia.|MONDO|N|
C5681470|A rare disorder of sex development due to reduced 17,20-lyase activity that affects individuals with 46,XY karyotype and has characteristics of ambiguous external genitalia, including micropenis, perineal hypospadias, bifid scrotum, cryptorchidism and a blind vaginal pouch. Blood pressure and electrolytes are normal whilst hormonal investigations show normal basal and stimulated levels of cortisol and low basal and stimulated androgen levels.|SNOMEDCT_US|N|
C5681477|A nail anomaly that is not part of a larger syndrome.|MONDO|N|
C5681483|A disease that involves the dermis.|MONDO|N|
C5681492|A skin disease that involves the epidermis.|MONDO|N|
C5681494|An autoimmune disease characterized by blisters on the skin.|MONDO|N|
C5681496|Chromosomal disorder in which the chromosomal anomaly involves an autosome.|MONDO|N|
C5681523|An epilepsy syndrome that occurs between 28 days to one year of life.|MONDO|N|
C5681526|A epilepsy syndrome that occurs during childhood.|MONDO|N|
C5681528|A rare, genetic, neurodevelopmental disorder characterized by global developmental delay, severe intellectual disability and absence of expressive language. Muscular hypotonia, seizures, autistic behavior and stereotypic movements are common.|ORDO|N|
C5681534|A rare, malignant, primary thymic neoplasm originating from neuroendocrine cells, presenting as a mass within the anterior mediastinum. Patients typically present with nonspecific symptoms, such as chest pain, cough, shortness of breath, or in some cases, superior vena cava syndrome, although patients could be asymptomatic during the early stages or present with multiple endocrine neoplasia type I. Ectopic production of ACTH and serotonin can lead to Cushing syndrome and carcinoid syndrome, respectively.|ORDO|N|
C5681536|An instance of renal tubular dysgenesis that is caused by a modification of the individual's genome.|MONDO|N|
C5681560|A rare, non-syndromic, urogenital tract malformation characterized by an anatomically normal penis which has a stretched penile length of less than 2.5 SD for age, in the absence of any other abnormalities and with no known cause.|ORDO|N|
C5681562|Primary congenital hypothyroidism without thyroid developmental anomaly is a type of primary congenital hypothyroidism (see this term) in which the thyroid gland is anatomically normal.|ORDO|N|
C5681569|An instance of hypopituitarism that is acquired during the lifetime of the individual.|MONDO|N|
C5681574|A group of rare congenital tricuspid malformations characterized by anomalies of the chordae tendineae and papillary muscles, including aberrant chordae tendineae, straddling valve (abnormal attachment of the chordae tendineae to both ventricles), and parachute valve (unifocal attachment of the chordae tendineae to a single or fused papillary muscle), resulting in an incompetent valve with regurgitation and/or stenosis and impaired right ventricular inflow, potentially leading to heart failure. In most cases, other cardiac anomalies are found in association.|ORDO|N|
C5681578|Chronic hepatic porphyrias represent a sub-group of porphyrias (see this term). They are characterized by bullous photodermatitis caused by a deficiency of uroporphyrinogen decarboxylase (URO-D; the fifth enzyme in the heme biosynthesis pathway). Chronic hepatic porphyria encompasses two diseases: porphyria cutanea tarda and hepatoerythropoietic porphyria (extremely rare) (see these terms).|ORDO|N|
C5681579|Secondary short bowel syndrome is an intestinal failure caused by any condition that results in a functional small intestine of less than 200 cm in length and is characterized by diarrhea, nutrient malabsoption, bowel dilation and dysmobility.|ORDO|N|
C5681586|Any inflammatory bowel disease in which the cause of the disease is a mutation in the ALPI gene.|MONDO|N|
C5681587|A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by microcephaly, severe global developmental delay and intellectual disability, hypotonia, respiratory insufficiency, failure to thrive, and congenital anomalies affecting the skeleton, eyes, and several organ systems. Seizures and hearing loss are sometimes observed. Independent ambulation and meaningful speech are not attained. Common dysmorphic facial features include small forehead, biparietal narrowing, flat face, hypertelorism, arched eyebrows, short, upslanting palpebral fissures, wide nasal bridge, small, upturned nose, forward facing ears, and micrognathia. Brain imaging shows structural abnormalities in all patients.|ORPHANET|N|
C5681614|An X-linked intellectual disability syndrome (XLMR) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome.|ORDO|N|
C5681615|An X-linked intellectual disability syndrome (XLMR) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome.|ORDO|N|
C5681625|A rare, congenital, non-syndromic heart malformation characterized by an abnormal attachment of the mitral chordae to both ventricles. Straddling mitral valve is usually associated with conotruncal anomalies, most commonly double outlet right ventricle or transposition of the great arteries. Overriding mitral valve is characterized by a mitral annulus committed to the two ventricular chambers, where the mitral valve is shared between the ventricles. Straddling and overriding mitral valve can occur together or in isolation.|ORDO|N|
C5681630|Isolated congenital ectropion is a rare ocular disease characterized by congenital, unilateral or bilateral, lower or upper eyelid malposition with eversion of the margin due to a vertical shortage of skin, leading to exposure of the conjunctiva and sometimes the cornea. Chronic epiphora and exposure keratitis may be observed in severe cases.|ORDO|N|
C5681632|A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by variable intellectual disability, developmental delay, autistic behavior, short stature and microcephaly. Additional variable manifestations include feeding problems, vision and hearing impairments, recurrent upper airway infections and epilepsy. Reported malformations are cryptorchidism and cerebral anomalies. Dysmorphic facial features include short and upslanted palpebral fissures, ptosis, telecanthus, depressed nasal ridge, short nose, anteverted nares, short columella and long philtrum.|SNOMEDCT_US|N|
C5681633|A rare multiple congenital anomalies/dysmorphic syndrome with characteristics of global developmental delay or regression, variable congenital heart defects (such as patent ductus arteriosus, atrial or ventricular septal defects, and double outlet right ventricle, among others), dysmorphic features (including ptosis, epicanthal folds, abnormally set/dysplastic ears, low hairline or excess nuchal skin, wide-spaced/inverted nipples, umbilical hernia or diastasis recti, and digital anomalies). Additional variable manifestations are hyper or hypotonia, seizures, hearing loss, cortical blindness and optic atrophy. Brain imaging may show cerebral and cerebellar atrophy and hydrocephalus.|SNOMEDCT_US|N|
C5681635|A rare epidermal disease characterised by the association of punctate acrokeratoderma with a pigmentary disorder. Patients present skin-coloured keratotic papules on the hands and feet and pronounced hyperkeratosis of the palms and soles. Freckle-like pigmentation on the dorsal surfaces of the hands and feet is also reported. Histological examination reveals no fragmentation of dermal elastic tissue.|SNOMEDCT_US|N|
C5681636|Unclassified myelodysplastic syndrome (MDS-U) is a subtype of myelodysplastic syndrome (MDS; see this term) with atypical features of uncertain clinical significance.|ORDO|N|
C5681638|A rare genetic syndromic intellectual disability characterized by infantile or childhood onset of mild to profound developmental delay and intellectual disability in all affected individuals, as well as variable occurrence of epilepsy, autism spectrum disorder/behavioral issues, microcephaly, muscle tone abnormalities such as hypotonia and spasticity, dystonic, dyskinetic or choreiform movement disorder and cortical visual impairment. Brain MRI may reveal abnormal cortical development, hypoplastic corpus callosum, enlarged or dysplastic basal ganglia and hippocampal dysplasia.|SNOMEDCT_US|N|
C5681659|The absence of or defect in the perception of colors.|MONDO|N|
C5681678|A rare inborn error of metabolism comprising 3-phosphoglycerate dehydrogenase deficiency, 3-phosphoserine phosphatase deficiency and phosphoserine aminotransferase deficiency. The disease has a phenotypic spectrum ranging from congenital microcephaly, psychomotor retardation and intractable seizures in the infantile forms to milder juvenile forms with moderate developmental delay and intellectual disability.|SNOMEDCT_US|N|
C5681698|Oculomotor palsy that arises from lesions in the supranuclear pathways controlling extraocular movement.|MONDO|N|
C5681712|A rare neuroendocrine tumor arising from chromaffin cells of the adrenal medulla (pheochromocytoma) or from sympathetic and parasympathetic ganglia (paraganglioma). These tumors are most often benign and may produce catecholamines in excess causing hypertension and sometimes severe acute cardiovascular complications.|ORDO|N|
C5681719|A rare primary immunodeficiency with characteristics of a severe, potentially life-threatening course of influenza A infection with acute respiratory distress. Production of type I and III interferons in response to influenza virus is very low, while other immunological abnormalities are absent and no further unusual viral infections occur.|SNOMEDCT_US|N|
C5681722|A rare autosomal recessive microcephalic primordial dwarfism with characteristics of congenital microcephaly and craniofacial features associated with a spectrum of limb abnormalities ranging from mild to severe. Short stature is frequently observed and often is severe. The disorder is due to bi-allelic mutations in the downstream neighbour of SON, DONSON (21q22.11), a replisome component that stabilises forks during genome replication.|SNOMEDCT_US|N|
C5681733|An instance of peripheral neuropathy that is caused by an inherited genomic modification in an individual.|MONDO|N|
C5681748|Underterminate colitis designates a rare inflammatory bowel disease that clinically resembles Crohn?s disease and ulcerative colitis (see these terms) but that cannot be diagnosed as one of them after examination of an intestinal resection specimen.|ORDO|N|
C5681803|Familial hypofibrinogenemia is a coagulation disorder characterized by mild bleeding symptoms following trauma or surgery due to a reduced plasma fibrinogen concentration.|ORDO|N|
C5681809|A well-differentiated, low or intermediate grade neuroendocrine neoplasm that arises from the larynx.|NCI|N|
C5681816|Occupational allergic alveolitis designates a hypersensitivity pneumonitis (see this term) resulting from the inhalation of an antigen to which an individual has been previously sensitized in his/her occupational environment. Symptoms vary depending on the antigen and the form (acute, subacute, chronic) of the disease. They may be cough, dyspnea, chills, fever, weight loss, loss of appetite and general malaise|ORDO|N|
C5681818|Turcot syndrome with polyposis or Turcot syndrome type 2 is a form of familial adematous polyposis, characterized by the concurrence of thousands of colonic adenomatous polyposis or colorectal cancer (CRC) and a primary central nervous system tumor (principally medulloblastoma). It is also associated with pigmented ocular fundus lesions.|ORDO|N|
C5681845|An inherited metabolic disease that is has its basis in the disruption of ketone body catabolic process.|MONDO|N|
C5681848|A rare genetic primary lymphoedema characterised by unilateral or bilateral lower limb lymphoedema of variable severity. The condition shows almost complete penetrance with onset in childhood or adolescence in females, whereas in males it shows incomplete penetrance with later onset of disease. Lymphoscintigraphy in more severely affected individuals reveals lymphatic abnormalities consistent with lymphangiectasia, valve dysfunction, and thoracic duct reflux.|SNOMEDCT_US|N|
C5681852|A dendritic cell tumor develops from the cells of the immune system. This condition typically begins in the lymph system and may spread to nearby organs or distant parts of the body (metastasize). There are five subtypes of dendritic cell tumors: follicular dendritic cell tumor, interdigitating dendritic cell tumor, Langerhans' cell histiocytosis, Langerhans' cell sarcoma, and dendritic cell sarcoma not specified otherwise. The symptoms and severity of the condition depend on the subtype and location of the tumor. Treatment may include surgery, radiation therapy, and/or chemotherapy.|MONDO|N|
C5686323|An autosomal dominant hereditary neurodegenerative disease with characteristics of progressive muscular paralysis reflecting degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem and spinal cord. Associated with mutations in the superoxide dismutase-1 gene (SOD1) on chromosome 21q22.|SNOMEDCT_US|N|
C5686324|An autosomal recessive hereditary neurodegenerative disease with characteristics of progressive muscular paralysis reflecting degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem and spinal cord. Associated with mutations in the superoxide dismutase-1 gene (SOD1) on chromosome 21q22.|SNOMEDCT_US|N|
C5686548|An autosomal dominant hereditary neuromuscular disorder with characteristics of central cores on muscle biopsy and clinical features of a congenital myopathy. Typical presentation is in infancy with hypotonia and motor developmental delay and predominantly proximal weakness pronounced in the hip girdle. Caused by mutations in the skeletal muscle ryanodine receptor (RYR1) gene, encoding the principal skeletal muscle sarcoplasmic reticulum calcium release channel (RyR1). Altered excitability and/or changes in calcium homeostasis within muscle cells due to mutation-induced conformational changes in the RyR protein are considered to be the main pathogenetic mechanism(s).|SNOMEDCT_US|N|
C5686593|A very rare severe motor neuron disease with manifestation of progressive upper and lower motor neuron degeneration causing facial spasticity, dysarthria, and gait disorders with onset before 25 years of age. Caused by homozygous mutation in the gene encoding alsin ALS2 (2q33-q35).|SNOMEDCT_US|N|
C5686604|A very rare severe motor neuron disease with manifestation of progressive upper and lower motor neuron degeneration causing facial spasticity, dysarthria, and gait disorders with onset before 25 years of age. There is evidence this disease is caused by homozygous or compound heterozygous mutation in the spatacsin gene (SPG11) on chromosome 15q21.|SNOMEDCT_US|N|
C5686607|A rare genetic congenital non-dystrophic myopathy characterised by neonatal or infantile-onset hypotonia and mild to severe generalised muscle weakness. Caused by homozygous mutation in the ZAK gene on chromosome 2q31.|SNOMEDCT_US|N|
C5686633|A rare genetic congenital non-dystrophic myopathy characterized by neonatal or infantile-onset hypotonia and mild to severe generalized muscle weakness. Caused by SELENON (1p36.11) gene mutation.|SNOMEDCT_US|N|
C5686634|A rare autosomal dominant congenital non-dystrophic myopathy characterised by neonatal or infantile-onset hypotonia and mild to severe generalised muscle weakness. Caused by SELENON (1p36.11) gene mutation.|SNOMEDCT_US|N|
C5686635|A rare autosomal recessive congenital non-dystrophic myopathy characterized by neonatal or infantile-onset hypotonia and mild to severe generalized muscle weakness. Caused by SELENON (1p36.11) gene mutation.|SNOMEDCT_US|N|
C5686841|The process of a malignant neoplasm increasing in size and/or spreading.|SNOMEDCT_US|N|
C5687101|A rare genetic congenital non-dystrophic myopathy characterised by neonatal or infantile-onset hypotonia and mild to severe generalised muscle weakness. Causative gene mutation is ACTA1 (1q42.13).|SNOMEDCT_US|N|
C5687102|A rare autosomal recessive congenital non-dystrophic myopathy characterised by neonatal or infantile-onset hypotonia and mild to severe generalised muscle weakness. Causative gene mutation is ACTA1 (1q42.13).|SNOMEDCT_US|N|
C5687103|A rare autosomal dominant congenital non-dystrophic myopathy characterized by neonatal or infantile-onset hypotonia and mild to severe generalized muscle weakness. Causative gene mutation is ACTA1 (1q42.13).|SNOMEDCT_US|N|
C5687104|A rare genetic congenital non-dystrophic myopathy characterized by neonatal or infantile-onset hypotonia and mild to severe generalized muscle weakness. Causative gene mutation is TPM3 (1q21.3).|SNOMEDCT_US|N|
C5687105|A rare autosomal recessive congenital non-dystrophic myopathy characterised by neonatal or infantile-onset hypotonia and mild to severe generalised muscle weakness. Causative gene mutation is TPM3 (1q21.3).|SNOMEDCT_US|N|
C5687106|A rare autosomal dominant congenital non-dystrophic myopathy characterised by neonatal or infantile-onset hypotonia and mild to severe generalised muscle weakness. Causative gene mutation is TPM3 (1q21.3).|SNOMEDCT_US|N|
C5687155|A rare acquired dermis elastic tissue disorder with decreased elastic tissue characterised by multiple, asymptomatic, well demarcated, flat, hypopigmented atrophic macular skin lesions distributed over upper trunk and proximal upper limbs. Histopathological examination reveals atrophic epidermis with decreased basal pigmentation, perivascular mononuclear infiltration in the upper dermis, and disorganised, hyalinised, coarse collagen bundles and variable loss of elastic fibres in the dermis.|SNOMEDCT_US|N|
C5687156|A rare primary germ cell tumor of central nervous system characterized by a lesion typically in the region of the pineal gland and the suprasellar compartment, composed of cytotrophoblastic elements and multinucleated syncytiotrophoblastic giant cells. Ectatic stromal vascular channels, blood lakes, and extensive hemorrhagic necrosis are the rule. The tumor usually arises in the second decade of life and predominantly in males. Clinical presentation depends on location and size and includes signs of increased intracranial pressure, visual disturbances and endocrine abnormalities. Prognosis is generally poor.|SNOMEDCT_US|N|
C5687188|A rare pulmonary disease characterized by primary or nonbacteremic pneumonia most frequently arising in an intensive care setting or bacteremic pneumonia which is typically associated with neutropenia. Chronic lower respiratory tract infection with development of episodes of pneumonia is common in patients with cystic fibrosis. Acute infections are potentially life-threatening. Patients present with fever, chills, dyspnea, cyanosis, productive cough, as well as signs of severe systemic toxicity. Alveolar hemorrhage, necrosis and eventually cavity formation, are commonly seen.|SNOMEDCT_US|N|
C5687300|A rare functioning neuroendocrine tumour of pancreas characterised by a typically well-differentiated neoplasm composed of cells expressing serotonin. Patients may present with atypical carcinoid syndrome with abdominal pain, diarrhoea, weight loss, and/or flushing. Carcinoid syndrome is usually present only when there are liver metastases. The tumours tend to be larger than non-functioning tumours and are associated with a poorer prognosis because they are almost always metastatic.|SNOMEDCT_US|N|
C5687448|The gene product has greater than normal function.|SNOMEDCT_US|N|
C5687449|The gene product function is less than normal function and greater than poor function or no function.|SNOMEDCT_US|N|
C5687450|The gene product has little or no function.|SNOMEDCT_US|N|
C5687451|The gene product is fully functional.|SNOMEDCT_US|N|
C5687505|The parenteral nutrition formula macronutrient distribution.|SNOMEDCT_US|N|
C5687572|Congenital myopathy with fibre-type disproportion associated with the MYH7 (myosin heavy chain 7) gene on the cytogenetic location 14q11.2 inherited in an autosomal dominant manner.|SNOMEDCT_US|N|
C5687650|The memory recall capacity to administer enteral nutrition as defined in a nutrition care plan.|SNOMEDCT_US|N|
C5687651|The memory recall capacity to administer parenteral nutrition as defined in a nutrition care plan.|SNOMEDCT_US|N|
C5687652|The capacity to infuse parenteral nutrition as defined in a nutrition care plan.|SNOMEDCT_US|N|
C5687653|The capacity to infuse enteral nutrition as defined in a nutrition care plan.|SNOMEDCT_US|N|
C5687831|History of having a previously prescribed diet regime.|SNOMEDCT_US|N|
C5687832|Enteral nutrition feeding regime followed by the subject.|SNOMEDCT_US|N|
C5687836|History of having a previously prescribed enteral nutrition feeding regime.|SNOMEDCT_US|N|
C5687848|A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of global developmental delay, intellectual disability, growth retardation, hypotonia, cerebellar symptoms such as ataxia, spondyloepiphyseal dysplasia and dysmorphic craniofacial features (including microcephaly, dolichocephaly, prominent ears, epicanthus, broad nasal bridge, long and flat philtrum, or small mouth). Additional reported manifestations are epilepsy, retinitis pigmentosa and urogenital abnormalities among others. Brain imaging may show cerebellar hypoplasia.|SNOMEDCT_US|N|
C5687849|A rare autosomal recessive cerebellar ataxia with characteristics of onset of dystonia and other extrapyramidal signs, ataxia, oculomotor apraxia and progressive sensorimotor polyneuropathy in the first decade of life. Patients present distal muscle weakness and atrophy, decreased vibratory sensation and areflexia, and usually become wheelchair-bound by the third decade. Variable cognitive impairment may also be seen.|SNOMEDCT_US|N|
C5687916|Long, vertical, well-defined hyperechoic dynamic lines originating from the pleural line and moving synchronously with the lung.|SNOMEDCT_US|N|
C5687959|Intentional restriction of food intake to lose weight and/or to prevent weight gain.|SNOMEDCT_US|N|
C5687962|Tiredness that inhibits food consumption.|SNOMEDCT_US|N|
C5687963|Decreased attention to food consumption during an eating occasion.|SNOMEDCT_US|N|
C5687964|A rare ependymal tumor characterized by the presence of a RELA fusion gene. This supratentorial grade II or III ependymoma most often occurs in children and young adults. Histopathological features are variable, but a distinctive vascular pattern of branching capillaries or clear-cell change are common. Patients may present with focal neurological deficits, seizures, or features of raised intracranial pressure. Prognosis is worse than in other supratentorial ependymomas.|SNOMEDCT_US|N|
C5688224|A rare monogenic form of cutaneous lupus erythematosus characterized by infantile or childhood onset of cold-induced erythematous papules or plaques predominantly on the fingers, toes, nose, cheeks, and ears. Recurrent ulceration of the lesions may lead to necrotic tissue destruction and mutilation. Patients may experience ischemia of the affected acral regions. Histological findings include cutaneous perivascular inflammatory infiltrates with deposits of immunoglobulins or complement.|SNOMEDCT_US|N|
C5688227|A rare mitochondrial disease with characteristics of a distinctive MRI pattern of cavitating leucodystrophy, predominantly in the posterior region of the cerebral hemispheres. The clinical picture varies widely between acute neurometabolic decompensation in infancy with loss of developmental milestones, seizures and pyramidal signs rapidly evolving into spastic tetraparesis, to subtle neurological symptoms presenting in adolescence. The disease course tends to stabilise over time in most patients and marked recovery of milestones may be observed.|SNOMEDCT_US|N|
C5688235|Judgement of neighborhood infrastructure and suitability for walking.|SNOMEDCT_US|N|
C5688236|Judgement of neighbourhood safety.|SNOMEDCT_US|N|
C5688237|Availability of a facility to engage in physical activity.|SNOMEDCT_US|N|
C5688238|Judgement of closeness to open space and vegetation for outdoor activities.|SNOMEDCT_US|N|
C5688271|Impaired release of stem cells from the bone marrow to the peripheral blood after administration of a substance intended to promote stem cell mobilization.|SNOMEDCT_US|N|
C5688301|A characteristic ruxolitinib discontinuation syndrome includes an acute relapse of disease symptoms, splenomegaly, and occasional haemodynamic decompensation. Symptoms can appear from less than 24 hours to up to 3 weeks after the abrupt discontinuation of ruxolitinib.|SNOMEDCT_US|N|
C5688382|A rare inherited cancer-predisposing syndrome characterised by occurrence of multiple synchronous primary carcinoids of the small intestine. Clinical presentation is otherwise indistinguishable from sporadic carcinoids and includes abdominal pain, flushing, and diarrhoea, often becoming manifest only after a long asymptomatic period. Most patients present with low grade tumours. Occurrence of pulmonary carcinoids has also been reported.|SNOMEDCT_US|N|
C5688403|The approach for estimating fluid need.|SNOMEDCT_US|N|
C5688406|Desired or goal body mass index.|SNOMEDCT_US|N|
C5688451|A rare head and neck tumor characterized by a malignant epithelial neoplasm most commonly arising in the maxillary sinus or nasal cavity, occurring as a keratinizing, a non-keratinizing, or a spindle cell (sarcomatoid) type. Patients may present with nasal obstruction, epistaxis, rhinorrhea, swelling, or (at more advances stages) with facial pain and/or paralysis, diplopia and proptosis. Patients with paranasal sinus tumors present later and at a higher stage than patients with nasal cavity carcinomas. Risk factors are smoking and industrial exposures. High-risk Human papillomavirus is most frequently associated with the non-keratinizing type.|SNOMEDCT_US|N|
C5688452|A rare genetic lethal multiple congenital anomalies/dysmorphic syndrome with characteristics of early intrauterine growth retardation, generalised oedema, craniofacial dysmorphism (such as microcephaly, brachycephaly, frontal bossing, hypertelorism, short palpebral fissures, or absent nasal bone), cerebellar hypoplasia, sex reversal in male fetuses, congenital heart defects (including septal and valve defects and cardiomegaly) and late fetal loss.|SNOMEDCT_US|N|
C5688460|A rare monogenic primary immunodeficiency disorder with characteristics of lack of functional peripheral T lymphocytes resulting in early-onset severe respiratory infections and failure to thrive. Caused by homozygous or compound heterozygous mutation in the interleukin-7 receptor gene (IL7R) on chromosome 5p13.|SNOMEDCT_US|N|
C5688461|A rare monogenic primary immunodeficiency disorder with characteristics of lack of functional peripheral T lymphocytes resulting in early-onset severe respiratory infections and failure to thrive. Caused by homozygous or compound heterozygous mutation on the CD45 gene on chromosome 1q31.|SNOMEDCT_US|N|
C5688490|A rare congenital optic disc excavation with characteristics of deep fundus excavation of chorioretinal atrophy surrounding a relatively normal appearing optic disc. Retinal vasculature is normal, and retinochoroidal coloboma and glial anomalies are absent. Patients present with mostly unilateral markedly reduced visual acuity. Association with other congenital defects or systemic diseases is uncommon.|SNOMEDCT_US|N|
C5688587|ISSVA Classification of Vascular Anomalies ©2018 International Society for the Study of Vascular Anomalies Available at ""issva.org/classification"" Accessed May 31, 2022.|SNOMEDCT_US|N|
C5688590|The approach for assessing body fat percentage.|SNOMEDCT_US|N|
C5688670|A congenital malformation characterised by an abnormal posterior sagittal communication between the larynx and the pharynx, possibly extending downward between the trachea and the oesophagus. Five types of laryngo-tracheo-oesophageal cleft have been described based on the downward extension of the cleft. The disorder is often associated with other congenital abnormalities. Laryngeal clefts result from failure of fusion of the posterior cricoid lamina and abnormal development of the tracheo-oesophageal septum. The disorder appears to be mostly sporadic although some familial cases with suspected autosomal dominant transmission have been reported.|SNOMEDCT_US|N|
C5688832|A form of mitochondrial DNA depletion syndrome that displays a broad phenotypic spectrum but most often has characteristics of hypotonia, proximal muscle weakness, facial and bulbar weakness and failure to thrive.|SNOMEDCT_US|N|
C5688967|Test carried out to indicate foveal disruption of the distal radioulnar ligaments. The person being examined sits opposite the examiner with elbow on the table. The examiner supports the hand to keep the elbow in 90 to 110 degrees of flexion, the examiner''s thumb tip is then pressed distally and deep into the space between the ulnar styloid process, flexor carpi ulnaris tendon, volar surface of the ulnar head and the pisiform. The sign is positive where the test elicits pain.|SNOMEDCT_US|N|
C5688968|Test carried out to indicate rotator cuff tear. The person being examined has their arm placed 90 degrees in the scapular plane with the elbow flexed 90 degrees, the arm is then externally rotated against resistance. If external rotation is not possible the test is positive.|SNOMEDCT_US|N|
C5690723|Orthostatic dyspnea and fall of oxygen blood saturation when standing up which regress by assuming lying position.|MSH|N|
C5690725|Allergic reactions following a period of exercise. Elevated serum HISTAMINE and TRYPTASE levels and cutaneous MAST CELL degranulation are often associated with post-exertional allergic reactions which sometimes are triggered only in combination with prior consumption of a specific food such as wheat. Allergic symptoms produced post-exercise range from skin eruption, asthma, bronchospasm, and anaphylaxis.|MSH|N|
C5690757|Chronic kidney diseases not associated with traditional RISK FACTORS, e.g., TYPE 2 DIABETES MELLITUS and HYPERTENSION, but rather with infectious diseases, exposure to environmental toxins, or other unknown factors. They are most prevalent in agricultural communities of DEVELOPING COUNTRIES.|MSH|N|
C5690760|The degree to which individuals are inhibited or facilitated in their ability to gain entry to and to receive PRIMARY CARE.|MSH|N|
C5690799|Stressors and conditions which disturb PROTEOSTASIS. Dysfunctional responses to proteotoxic stress are associated with CELL DEATH; CELL SENESCENCE; CANCER and PROTEINOPATHY.|MSH|N|
C5690803|An observation that high BODY MASS INDEX is sometimes associated with lower CARDIOVASCULAR DISEASE mortality in certain population, e.g., ELDERLY.|MSH|N|
C5690819|Defects in normal AMELOGENESIS caused by any local, systemic, environmental, or genetic factors. Enamel defects resulting from demineralization of normally developed DENTAL ENAMEL is referred to as TOOTH DEMINERALIZATION.|MSH|N|
C5690820|A decreased amount of enamel mineralization. Hypomineralized enamel has a brown discoloration and brittle aspect.|HPO|N|
C5690830|Portal hypertension of the SPLENIC VEIN due to occlusion caused by pancreatic pathology such as PANCREATIC PSEUDOCYST and PANCRATIC CANCER. Sinistral portal hypertension is associated with GASTRIC VARICES and acute HEMATEMESIS.|MSH|N|
C5690852|An accumulation of training and/or non-training stress resulting in short-term decrement in performance capacity with or without related physiological and psychological signs and symptoms of maladaptation in which restoration of performance capacity may take from several weeks to several months.(from Curr Sports Med Rep. May-Jun 2015;14(3):157-8)|MSH|N|
C5690906|Progressive deterioration of T-cell function due to chronic antigen stimulation and inflammatory signals, e.g., CHRONIC INFECTION and CANCER. T-cell exhaustion is characterized by weakened immune system, e.g., dysfunctional MEMORY T CELLS differentiation and EPIGENETIC REPRESSION of IMMUNOLOGIC MEMORY effector functions.|MSH|N|
C5690908|A type of developmental disturbance of AMELOGENESIS involving MOLARS of any type (obligatory) plus other teeth sometimes. It is characterized by demarcated enamel opacities with unknown systemic causation (idiopathic).|MSH|N|
C5690911|Physical and psychological injuries resulting from SEXUAL VIOLENCE during MILITARY service.|MSH|N|
C5691278|Inability to close eyelids completely secondary to medical treatment.|MSH|N|
C5691287|Age-related neuropathological condition with severe neuronal cell loss and gliosis in the hippocampus|MONDO|N|
C5691328|Infections by the same infectious agent occurring during exposure to treatment.|MSH|N|
C5691364|A type of developmental disturbance of AMELOGENESIS involving INCISORS. It is characterized by demarcated enamel opacities with local causation or unknown systemic causation.|MSH|N|
C5699773|Living in an environment that is not meant for permanent human habitation such as cars, parks, sidewalks, abandoned buildings, or on the street. However, the environment is a designated safe sleeping environment.|SNOMEDCT_US|N|
C5699777|Housed with no more than 2 relocations in the last 12 months, current on rent or mortgage, and without housing cost burden or risk of eviction.|SNOMEDCT_US|N|
C5699868|Patient is self-referred based content in any instrument of communication which may include by is not limited to the internet, newspapers, TV, radio, etc.|SNOMEDCT_US|N|
C5699871|Patient is self-referred based content posted on the internet.|SNOMEDCT_US|N|
C5700076|Ulerythema ophryogenesis is characterised by inflammatory keratotic papules occurring on the face, which may be followed by scars, atrophy and alopecia. Prevalence is unknown but the disease, affecting mainly children and young adults, is rare. Erythema with mild hyperkeratosis of the hair follicles resulting in rough papules is observed on the cheeks and lateral aspects of the eyebrows. The disorder occasionally extends to the adjacent scalp, ears and forehead and rarely to the extensor surfaces of the limbs. Symptoms regress with age, although loss of the lateral aspects of the eyebrows can occur. Many cases occur sporadically; autosomal dominant inheritance has also been reported. There is no particular treatment, but patients should avoid sun exposure without UV protection.|ORDO|N|
C5700078|A dilated cardiomyopathy that has material basis in variation in the chromosome region 9q13.|MONDO|N|
C5700079|The presence of multiple juvenile polyps in the stomach and intestine. The term juvenile polyps refer to a special histopathology and not the age of onset as the polyp might be diagnosed at all ages. The juvenile polyp has a spherical appearance and is microscopically characterized by overgrowth of an oedematous lamina propria with inflammatory cells and cystic glands. Juvenile polyps are a specific type of hamartomatous polyps.|HPO|N|
C5700098|Stage III includes: IIIa (T1-3, N1, M0); IIIb (T1-3, N2, M0). T1: Tumor invades subepithelial connective tissue without lymph vascular invasion and is not poorly differentiated (i.e., grade 3-4) or tumor invades subepithelial connective tissue with lymph vascular invasion or is poorly differentiated. T2: Tumor invades corpus spongiosum or cavernosum. T3: Tumor invades urethra. cN1: Palpable mobile unilateral inguinal lymph node. pN1: Metastasis in a single inguinal lymph node. cN2: Palpable mobile multiple or bilateral inguinal lymph nodes. pN2: Metastasis in multiple or bilateral superficial inguinal lymph nodes. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C5700099|Stage II includes: (T1a, N0, M0, G2, 3-4); (T1b, N0, M0, Any G); (T1c, N0, M0, Any G); (T1, N0, M0, Any G); (T2, N0, M0, Any G). T1: Clinically inapparent tumor neither palpable nor visible by imaging. T1a: Tumor incidental histologic finding in 5% of tissue resected. T1c: Tumor identified by needle biopsy (e.g. because of elevated PSA). T2: Tumor confined with in the prostate. N0: No regional lymph node metastasis. M0: No distant metastasis. G2: Moderately differentiated (moderate anaplasia) (Gleason 5-6). G 3-4: Poorly differentiated/undifferentiated (marked anaplasia) (Gleason 7-10). (AJCC 6th ed.)|NCI|N|
C5700107|A rare adenoid cystic carcinoma that arises from the skin. It is very aggressive in nature with a high risk of local recurrence.|NCI|N|
C5700114|An increased level of phosphoethanolamine (synonym|HPO|N|
C5700116|A form of junctional epidermolysis bullosa characterized by neonatal onset of localized blistering, and dystrophic or absent nails. Skin blistering is mainly confined to hands, feet, lower legs and face. Additional findings may include dental enamel hypoplasia and an increased incidence of caries.|ORDO|N|
C5700127|NMAN is an autosomal recessive neurologic disorder characterized by onset in the first or second decade of a peripheral axonal neuropathy predominantly affecting motor more than sensory nerves. The axonal neuropathy is reminiscent of Charcot-Marie-Tooth disease type 2 (see, e.g., CMT2A1, 118210) and distal hereditary motor neuropathy (see, e.g., HMND1, 182960). Individuals with NMAN also have delayed muscle relaxation and action myotonia associated with neuromyotonic discharges on needle EMG resulting from hyperexcitability of the peripheral nerves (summary by Zimon et al., 2012).|OMIM|N|
C5700142|Deviations from the normal process; e.g. delayed, difficult, profuse, scanty, unusual bleeding, etc.|NCI|N|
C5700153|An anomaly in the number of monocytes, which are myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells.|HPO|N|
C5700155|Abnormally high concentration of calcium in the peripheral blood.|NCI|N|
C5700179|Stage Group III is subdivided into IIIA (T1-2, N1, M0), IIIB (T3-4, N1, M0) or IIIC (any T, N2 M0). T1: Tumor invades the submucosa. T2: Tumor invades muscularis propria. T3: Tumor invades through the muscularis propria into the subserosa or into non-peritonealized pericolic or perirectal tissues. T4: Tumor directly invades other organs or structures, and/or perforates visceral peritoneum. N1: Metastasis in 1 to 3 regional lymph nodes N2: Metastasis in 4 or more regional lymph nodes. M0: No distant metastasis. (AJCC 6th ed.)|NCI|N|
C5700180|A skin disorder characterized by an intense itching sensation.|NCI|N|
C5700203|A rare genetic hepatic disease with characteristics of multiple segmental cystic dilatations of both central and smaller peripheral bile ducts associated with congenital hepatic fibrosis. Age of symptom onset is variable, as is disease progression. Patients present recurrent cholangitis, hepatolithiasis and cholecystolithiasis. Portal hypertension may appear later in the disease course, and the risk of developing cholangiocarcinoma is increased significantly. The syndrome is often associated with autosomal recessive polycystic kidney disease.|SNOMEDCT_US|N|
C5700208|Stage IV includes: Any T, Any N, M1. M1: Distant metastasis. (AJCC 6th ed.)|NCI|N|
C5700212|Stage I includes: IA: (T1, N0, M0) and IB: (T1, N1, M0); (Ta/b, N0, M0). T1: Tumor invades lamina propria or submucosa. T2: Tumor invades the muscularis propria or the subserosa. T2a: Tumor invades muscularis propria. T2b: Tumor invades subserosa. N0: No regional lymph node metastasis. N1: Metastasis in 1 to 6 regional lymph nodes. N2: Metastasis in 7 to 15 regional lymph nodes. M0: No distant metastasis. (AJCC 6th ed.)|NCI|N|
C5700213|Stage II includes: (T1, N2, M0), (T2a/b, N1, M0), (T3, N0, M0). T1: Tumor invades lamina propria or submucosa. T2: Tumor invades muscularis propria or submucosa. T2a: Tumor invades muscularis propria. T2b: Tumor invades subserosa. T3: Tumor penetrates serosa (visceral peritoneum) without invasion of adjacent structures. N1: Metastasis in 1 to 6 regional lymph nodes. Metastasis in 7 to 15 regional lymph nodes. M0: No distant metastasis. (AJCC 6th ed.)|NCI|N|
C5700245|A rare disorder of pentose phosphate metabolism with characteristics of developmental delay and intellectual disability, delayed or absent speech, short stature and congenital heart defects (such as ventricular septal defect, atrial septal defect and patent foramen ovale). Additional reported features include hypotonia, hyperactivity, stereotypic behaviour, ophthalmologic abnormalities (bilateral cataract, uveitis, strabismus), hearing impairment and variable facial dysmorphism among others. Laboratory analysis shows elevated plasma and urinary polyols (erythritol, arabitol and ribitol) and urinary sugar-phosphates (ribose-5-phosphate and xylulose/ribulose-5-phosphate).|SNOMEDCT_US|N|
C5700249|A rare inherited rheumatologic disease which causes calcification of articular fibrocartilage or hyaline cartilage. It often associates with acute synovitis and osteoarthritis. The disease manifests in early adulthood (20-40 years old) and has a variable clinical phenotype. Mutations in the ANKH gene (human homologue of progressive ankylosis; 5p15.2), encoding a protein involved in cellular inorganic pyrophosphate transport, were identified in some cases of familial CPPD. Other familial cases have been linked to mutation in the Tumor Necrosis Factor Receptor Super Family member 11B (TNFRSF11B) gene coding for osteoprotegerin (OPG) Other causative genes are yet to be determined. Has an autosomal dominant mode of inheritance with variable penetrance.|SNOMEDCT_US|N|
C5700308|A hand or foot with more than five digits that has a recognizable A/P axis of symmetry. The axis can lie within a normally formed or partially duplicated digit resembling a middle finger, index finger, thumb, toe, or hallux. Alternatively, the axis can be in an interdigital space with a flanking pair of digits that resemble a middle finger, index finger, thumb, toe or hallux. The most lateral digits on each side of the hand/foot typically resemble fifth fingers/toes.|HPO|N|
C5700309|Tyrosine hydroxylase (TH) deficiency is associated with a broad phenotypic spectrum. Based on severity of symptoms/signs as well as responsiveness to levodopa therapy, clinical phenotypes caused by pathogenic variants in TH are divided into (1) TH-deficient dopa-responsive dystonia (the mild form of TH deficiency), (2) TH-deficient infantile parkinsonism with motor delay (the severe form), and (3) TH-deficient progressive infantile encephalopathy (the very severe form). In individuals with TH-deficient dopa-responsive dystonia (DYT5b, DYT-TH), onset is between age 12 months and 12 years; initial symptoms are typically lower-limb dystonia and/or difficulty in walking. Diurnal fluctuation of symptoms (worsening of the symptoms toward the evening and their alleviation in the morning after sleep) may be present. In most individuals with TH-deficient infantile parkinsonism with motor delay, onset is between age three and 12 months. In contrast to TH-deficient DRD, motor milestones are overtly delayed in this severe form. Affected infants demonstrate truncal hypotonia and parkinsonian symptoms and signs (hypokinesia, rigidity of extremities, and/or tremor). In individuals with TH-deficient progressive infantile encephalopathy, onset is before age three to six months. Fetal distress is reported in most. Affected individuals have marked delay in motor development, truncal hypotonia, severe hypokinesia, limb hypertonia (rigidity and/or spasticity), hyperreflexia, oculogyric crises, ptosis, intellectual disability, and paroxysmal periods of lethargy (with increased sweating and drooling) alternating with irritability.|GeneReviews|N|
C5700310|Mitochondrial complex II deficiency is an autosomal recessive multisystemic metabolic disorder with a highly variable phenotype. Some patients have multisystem involvement of the brain, heart, and muscle with onset in infancy, whereas others have only isolated cardiac or muscle involvement. Measurement of complex II activity in muscle is the most reliable means of diagnosis; however, there is no clear correlation between residual complex II activity and severity or clinical outcome. In some cases, treatment with riboflavin may have clinical benefit (summary by Jain-Ghai et al., 2013).
Complex II, also known as succinate dehydrogenase, is part of the mitochondrial respiratory chain.
Genetic Heterogeneity of Mitochondrial Complex II Deficiency
See MC2DN2 (619166), caused by mutation in the SDHAF1 gene (612848) on chromosome 19q13; MC2DN3 (619167), caused by mutation in the SDHD gene (602690) on chromosome 11q23; and MC2DN4 (619224), caused by mutation in the SDHB gene (185470) on chromosome 1p36.
Fullerton et al. (2020) reviewed the genetic basis of isolated mitochondrial complex II deficiency.|OMIM|N|
C5700336|SLC6A3-related dopamine transporter deficiency syndrome (DTDS) is a complex movement disorder with a continuum that ranges from classic early-onset DTDS (in the first 6 months) to atypical later-onset DTDS (in childhood, adolescence, or adulthood). Classic DTDS. Infants typically manifest nonspecific findings (irritability, feeding difficulties, axial hypotonia, and/or delayed motor development) followed by a hyperkinetic movement disorder (with features of chorea, dystonia, ballismus, orolingual dyskinesia). Over time, affected individuals develop parkinsonism-dystonia characterized by bradykinesia (progressing to akinesia), dystonic posturing, distal tremor, rigidity, and reduced facial expression. Limitation of voluntary movements leads to severe motor delay. Episodic status dystonicus, exacerbations of dystonia, and secondary orthopedic, gastrointestinal, and respiratory complications are common. Many affected individuals appear to show relative preservation of intellect with good cognitive development. Atypical DTDS. Normal psychomotor development in infancy and early childhood is followed by later-onset manifestations of parkinsonism-dystonia with tremor, progressive bradykinesia, variable tone, and dystonic posturing. The long-term outcome of this form is currently unknown.|GeneReviews|N|
C5700343|A recently described type of encephalitis affecting young women with teratoma of ovary and associated with antibodies that react with neuronal cell surface auto-antigens.|SNOMEDCT_US|N|
C5700357|A rare inborn error of metabolism characterized by low serum carnosinase activity, persistent carnosinuria, and carnosinemia. The clinical phenotype is highly variable, with some patients remaining asymptomatic, while others have been reported to show severe developmental delay, intellectual disability, hypotonia, seizures, and other neurological signs and symptoms.|ORPHANET|N|
C5700378|A very rare malignant lung tumor with myoepithelial differentiation.|NCI|N|
C5700399|A rare disease with characteristics of exercise-induced life-threatening hyperthermia with a body temperature over 40°C and signs of encephalopathy ranging from confusion to convulsions or coma. Incidence increases with rising ambient temperature and relative humidity. Manifestations may include rhabdomyolysis (presenting with myalgia, muscle weakness and myoglobinuria), tachycardia and in severe cases multiorgan failure.|SNOMEDCT_US|N|
C5702540|Requires that the abnormal allele be paternal or maternal in origin, depending on the disease-gene relationship. Imprinting refers to a normal developmental process in which either the paternal or maternal allele is inactivated, depending on the specific locus, thus leading to expression from only one copy of the gene. Disease typically manifests when a deleterious variant is inherited from a parent whose copy of the gene would normally be expressed, but not when a deleterious variant is inherited from a parent whose copy of the gene would normally be inactivated.|HPO|N|
C5702555|An abnormality of the hand characterized by metacarpophalangeal (MCP) hyperextension and proximal interphalangeal (PIP) and distal interphalangeal (DIP) flexion. The position of the affected hand is said to resemble a claw.|HPO|N|
C5702564|A progressive disorder of vertebral joint degeneration that occurs in the setting of any condition characterized by decreased afferent innervation, involving loss of deep pain and proprioceptive sensation in the vertebral column. Patients most commonly present with symptoms of lower back pain, sitting imbalance, progressive spinal deformity (usually kyphosis), and an audible clicking sound on changing postures.|HPO|N|
C5702574|A continual or recurrent inclination to evacuate the bowels.|NCI|N|
C5702580|A molecular abnormality referring to the loss of at least one copy of the CTNNB1 gene.|NCI|N|
C5702584|A benign, non-inflammatory, multifocal proliferation of thyroid follicular cells that results in the formation of multiple thyroid nodules. The clinical term multinodular goiter refers to the changes caused in the thyroid gland by follicular nodular disease.|NCI|N|
C5702585|A score of greater than or equal to 2 on the Myeloma Frailty Index.|NCI|N|
C5702592|A usually indolent neuroendocrine neoplasm that almost exclusively arises in the second part of the duodenum. Rare sites of involvement include jejunum, pylorus, appendix, thymus, and lung. It is a triphasic tumor consisting of a mixture of epithelioid neuroendocrine cells, Schwann-like cells, and ganglion cell-like elements.|NCI|N|
C5702660|A generalized onset seizure type with a myoclonic jerk leading to an atonic motor component. This type was previously called myoclonic-astatic. A seizure originating at some point within, and rapidly engaging, bilaterally distributed networks.|SNOMEDCT_US|N|
C5702661|A rare biliary tract disease with characteristics of loss of interlobular bile ducts resulting in chronic cholestasis, without any known cause. Loss of less than 50% of interlobular bile ducts is associated with a mild disease course, while loss of the majority of ducts results in a severe form, potentially leading to cirrhosis and liver failure. Patients typically present as young or middle-aged adults with episodic jaundice, pruritus and elevated liver enzymes.|SNOMEDCT_US|N|
C5702674|An intended site for a dose form that is for administration directly to the intestine using an appropriate device.|SNOMEDCT_US|N|
C5702911|Myelodysplastic syndrome with a total score of more than 1.5 to 3, according to the revised International Prognostic Scoring System (IPSS-R).|NCI|N|
C5702914|An epileptic seizure that involves musculature in any form. The motor event could consist of an increase (positive) or decrease (negative) in muscle contraction to produce a movement, regardless of whether focal, generalised, or unknown onset, and whether aware or impaired awareness.|SNOMEDCT_US|N|
C5702987|Kaposi sarcoma that occurs during childhood.|NCI|N|
C5702988|Primary myelofibrosis characterized by the presence of less than 10% blasts in the peripheral blood or bone marrow.|NCI|N|
C5703292|Iron overload (IO) is characterized by the onset of increased systemic iron levels apparent in mid-adulthood. Laboratory studies show increased serum ferritin, normal or high transferrin saturation, increased liver iron content, and inappropriately low or normal levels of hepcidin. Presence of a BMP6 mutation confers susceptibility to the disorder, but additional factors, including alcohol consumption, increased body weight, and possibly HFE gene (613609) variants, may contribute to the severity of the manifestations (Daher et al., 2016; Piubelli et al., 2017).|OMIM|N|
C5703308|A score of 0 on the Myeloma Frailty Index.|NCI|N|
C5703310|An accumulation of fluid in the pleural space adjacent to an infectious pulmonary process, such as a pneumonia or a lung abscess, and that requires therapeutic drainage.|NCI|N|
C5703311|An xray finding that indicates a void or area of tissue that is less dense. Radiolucent lines can be prognostic factors after surgical joint replacements.|NCI|N|
C5703318|Von Willebrand disease (VWD), a congenital bleeding disorder caused by deficient or defective plasma von Willebrand factor (VWF), may only become apparent on hemostatic challenge, and bleeding history may become more apparent with increasing age. Recent guidelines on VWD have recommended taking a VWF level of 30 or 40 IU/dL as a cutoff for those diagnosed with the disorder. Individuals with VWF levels greater than 30 IU/dL and lower than 50 IU/dL can be described as having a risk factor for bleeding. This change in guidelines significantly alters the proportion of individuals with each disease type. Type 1 VWD (~30% of VWD) typically manifests as mild mucocutaneous bleeding. Type 2 VWD accounts for approximately 60% of VWD. Type 2 subtypes include: Type 2A, which usually manifests as mild-to-moderate mucocutaneous bleeding; Type 2B, which typically manifests as mild-to-moderate mucocutaneous bleeding that can include thrombocytopenia that worsens in certain circumstances; Type 2M, which typically manifests as mild-moderate mucocutaneous bleeding; Type 2N, which can manifest as excessive bleeding with surgery and mimics mild hemophilia A. Type 3 VWD (<10% of VWD) manifests with severe mucocutaneous and musculoskeletal bleeding.|GeneReviews|N|
C5703382|A sequence consisting of bilateral symmetric or sometimes asymmetric tonic contraction and then bilateral clonic contraction of somatic muscles, usually associated with autonomic phenomena and loss of awareness. A seizure originating at some point within, and rapidly engaging, bilaterally distributed networks.|SNOMEDCT_US|N|
C5703412|A general term that refers to a TNM finding of a primary tumor with direct invasion of adjacent structures. The definition of T4e TNM finding depends on the specific type of cancer that it refers: for example, for choroidal and ciliary body melanoma it indicates any tumor size category with extraocular extension more than 5 mm in largest diameter.|NCI|N|
C5703445|A change in the amino acid residue at position 309 in the receptor tyrosine-protein kinase erbB-2 protein where glycine has been replaced by glutamic acid.|NCI|N|
C5703446|A change in the amino acid residue at position 309 in the receptor tyrosine-protein kinase erbB-2 protein where glycine has been replaced by alanine.|NCI|N|
C5703450|A high-grade, rapidly growing malignant embryonal neoplasm that arises from the thyroid gland. It is characterized by the presence of primitive follicular-like structures surrounded by primitive small cells and primitive spindle cell mesenchymal stroma. It is associated with DICER1 gene mutations. The prognosis is poor.|NCI|N|
C5703472|An autosomal dominant form of amyotrophic lateral sclerosis caused by mutation(s) in the KIF5A gene, encoding kinesin heavy chain isoform 5A.|NCI|N|
C5704594|Pathological conditions of the cardiovascular system caused by infection of mycobacterium tuberculosis. Tuberculosis involvement may include the heart; the blood vessels; or the pericardium.|MONDO|N|
C5704669|Peripheral hypothyroidism is a type of permanent congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth, that results from peripheral defects in thyroid hormone metabolism.|MONDO|N|
C5706136|An abnormality of the male internal genitalia.|HPO|N|
C5706137|Sex limitation is used to refer to a monogenic trait linked to an autosomal locus in which the phenotypic effects of allelic differences are expressed only in one sex.|HPO|N|
C5706138|An abnormal structure of the hairshaft, i.e., of the nongrowing portion of a hair that protrudes from the skin.|HPO|N|
C5706139|Any deviation from the normal concentration of a monocarboxylic acid in the blood circulation.|HPO|N|
C5706140|A morphological abnormality of the optic disc, i.e., of the portion of the optic nerve clinically visible on fundoscopic examination.|HPO|N|
C5706141|A dermal sinus tract is an abnormality present at birth over the dorsal midline where an abnormal epithelialized connection from the skin tracks inwards towards the spine, most commonly seen in the lumbosacral region.|HPO|N|
C5706142|Elevated circulating tetradecanoyl concentration.|HPO|N|
C5706143|An anomalous structural finding of the fetal central nervous system. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes.|HPO|N|
C5706144|Abnormally increased concentration of reverse T3 (3,3',5'-triiodothyronine or rT3) in the blood circulation.|HPO|N|
C5706145|An abnormally increased ratio of the concentrations of reverse T3 to T3 in the blood circulation.|HPO|N|
C5706146|Concentration of tiglylglycine in the blood circulation above the upper limit of normal.|HPO|N|
C5706147|An elevation above the normal range of creatine in the blood circulation.|HPO|N|
C5706148|An reduction below the normal range of creatine in the blood circulation.|HPO|N|
C5706149|The presence of calcium deposition within the temporal lobe of the brain.|HPO|N|
C5706150|Bile thrombi that form an obstruction (plug) in a dilated bile duct.|HPO|N|
C5706151|An abnormally low volume of the white matter of the brain.|HPO|N|
C5706152|Detection of 3,5,6-trichloro-2-pyridinol in the urine.|HPO|N|
C5706153|Elevated concentration of tetracosanoic acid (a C24 straight-chain saturated fatty acid) in the blood circulation.|HPO|N|
C5706154|Elevated concentration of hexacosanoic acid (a C26 straight-chain saturated fatty acid) in the blood circulation.|HPO|N|
C5706155|A histological phenotype observed on testicular biopsy in which only Sertoli cells line the seminiferous tubules of the testis.|HPO|N|
C5706156|A malformation of the colon in which a pouch-like dilatation of a varying degree of shortened colon is associated with an anorectal malformation. The pouch usually terminates in a fistulous communication with the genitourinary tract.|HPO|N|
C5706157|An electric signal of depolarization observed between the end of the QRS complex and the beginning of the T wave.|HPO|N|
C5706158|The LV end-diastolic internal diameter was measured from two-dimensional (2D) images in the parasternal long-axis view, timed with mitral valve closure at the level of the mitral valve chordae.|HPO|N|
C5706159|Infection with the yellow fever virus of the live-attenuated vaccine.|HPO|N|
C5706160|An abnoramlly increased ejection fraction of the left ventricle, usually defined as a left ventricular ejection fraction greater than 70 percent.|HPO|N|
C5706161|Any abnormality of the left ventricular ejection fraction (LVEF), which is the fraction of chamber volume ejected in systole (stroke volume) in relation to the volume of the blood in the ventricle at the end of diastole (end-diastolic volume). Stroke volume (SV) is calculated as the difference between end-diastolic volume (EDV) and end-systolic volume (ESV). LVEF is calculated as [SV/EDV] in percent.|HPO|N|
C5706162|Reduced volume of pars compacta of the substantia nigra.|HPO|N|
C5706164|Reactivation is the mechanism whereby a latent virus that has infected a host cell switches to a lytic stage, undergoing productive viral replication and allowing the virus to spread. This term refers to reactivation regarded as unusual because of frequency, intensity, location, or nature of the virus, in the sense that the reactivation would not be observed in an immunocompetent host.|HPO|N|
C5706165|A vasculopathy in the central nervous system (CNS) following reactivation of varicella-zoster virus due to a productive viral infection of both large and small cerebral arteries.|HPO|N|
C5706166|Intracytoplasmic inclusions in myofibers that reduce nitro-blue tetrazolium (NBT) and thus stain strongly with the menadione-NBT stain.|HPO|N|
C5706167|Concentration of guanidinoacetic acid in the blood circulation is above the upper limit of normal.|HPO|N|
C5706168|Diminished enzyme activity of galactocerebrosidase.|HPO|N|
C5706169|Concentration of growth hormone in the blood circulation below normal limits.|HPO|N|
C5706170|An abnormal widening (dilatation) of the brachiocephalic artery|HPO|N|
C5706171|Thin, punctiform elements of various colors in the posterior stroma of the cornea, immediately anterior to Descemet membrane. The elements are visible to direct and indirect illumination.|HPO|N|
C5706172|A condition in which the lumen of a bile duct has been filled by fibrous scar material, in effect replacing the bile duct with a fibrous scar.|HPO|N|
C5706173|A congenital brain malformation characterized by marked overgrowth and dysplasia affecting one or both cerebral hemispheres, and, in some cases, subcortical brain regions as well. The presence of dysplasia in dysplastic megalencephaly distinguishes it from other forms of generalized megalencephaly.|HPO|N|
C5706174|Decreased range of right ventricular motion in a portion of the right ventricle of the heart.|HPO|N|
C5706175|Severe hypokinesia of the mid-free wall of the right ventricle of the heart with a normal contraction of the apical segment of the right ventricle.|HPO|N|
C5706176|Elevated concentration of hypoxanthine in the blood circulation.|HPO|N|
C5706178|A pattern of inheritance observed for alleles in the X-Y identical regions is referred to as pseudoautosomal inheritance, because it resembles the pattern seen for alleles located on autosomes.|HPO|N|
C5706179|A type of pseudoautosomal inheritance that is dominant and in which heterozygous males and females both manifest a disease phenotype.|HPO|N|
C5706180|A type of pseudoautosomal inheritance that is recessive and in which biallelic males and females both manifest a disease phenotype.|HPO|N|
C5706181|A developmental defect characterized by lack of formation of the trapezius muscle, which is broad superficial muscle that extends from the posterior neck to the posterior part of the trunk (thorax).|HPO|N|
C5706182|A rarely encountered phenomenon in which condition is most severe in the heterozygous state. Such disorders are rare and currently all are X-linked. Most X-linked recessive conditions manifest if hemizygous in males, or biallelic in females, though may have a mild phenotype in the heterozygous state in females.|HPO|N|
C5706183|Used to refer to a monogenic trait linked to an autosomal locus in which the phenotypic effects of allelic differences are expressed only in the female sex.|HPO|N|
C5706184|Increase in thickness of the great auricular nerve, a cutaneous nerve of the head. It originates from the cervical plexus, with branches of spinal nerves C2 and C3. Thickening may lead to the nerve being palpable or even visible in this region.|HPO|N|
C5706185|An elevated growth from the the mucosa of the bile duct.|HPO|N|
C5706186|On computed tomography of the brain,the white (or dense) cerebellum sign is seen when the cerebellum appears dense with respect to the cerebral parenchyma. The increase in attenuation of cerebellum is in fact a relative hyperdensity caused by decreased attenutation of the brain. It represents anoxic-ischemic cerebral injury, and has a very poor prognosis.|HPO|N|
C5706187|Increased loss of low-molecular weight proteins by the kidneys, measured in terms of the fractional excretion (FE). The FE of low-molecular-weight proteins such as beta2-microglobulin can be measured in terms of plasma and urine concentrations, since urinary low-molecular-weight protein concentrations can vary with water reabsorption.|HPO|N|
C5706188|Increased fractional excretion (FE) of glucose in the urine. The FE of glucose is the percentage of the glucose filtered by the kidney which is excreted in the urine. It is measured in terms of plasma and urine glucose, rather than by the interpretation of urinary glucose concentration alone, as urinary glucose concentrations can vary with water reabsorption.|HPO|N|
C5706189|Increased fractional excretion (FE) of sodium in the urine. The FE of sodium is the percentage of the sodium filtered by the kidney which is excreted in the urine. It is measured in terms of plasma and urine sodium, rather than by the interpretation of urinary glucose concentration alone, as urinary glucose concentrations can vary with water reabsorption.|HPO|N|
C5706190|Increased fractional excretion (FE) of glucose in the phosphate. The FE of glucose is the percentage of the phosphate filtered by the kidney which is excreted in the urine. It is measured in terms of plasma and urine phosphate, rather than by the interpretation of urinary phosphate concentration alone, as urinary glucose concentrations can vary with water reabsorption.|HPO|N|
C5706191|Reduced brigthness of the foveal reflex, which normally is a bright pinpoint of light that is observed to move sideways or up and down in response to movement of the opthalmoscope.|HPO|N|
C5706192|Increased concentration of alpha-aminoadipic semialdehyde in the blood circulation.|HPO|N|
C5706193|Activity of the enzyme beta-mannosidase below the lower limit of normal. Beta-mannosidase is a lysosomal enzyme that catabolizes oligosaccharides.|HPO|N|
C5706195|Reduced concentration of prekallikrein (PK; also known as Fletcher factor) in the blood circulation. PK is the precursor of plasma kallikrein, a serine protease that activates kinins. PK is cleaved to produce kallikrein by activated Factor XII.|HPO|N|
C5706196|Regurgitation of a heart valve that controls blood flow from a an atrium to a ventricle, including mitral, tricuspid, or, rarely, single atrioventicular valve.|HPO|N|
C5706197|Regurgitation of the single atrioventricular valve regurgitation (AVVR) in the context of a congenital heart defect with a single ventricle. Roughly three quarters of patients following Fontan procedure display AVVR.|HPO|N|
C5706199|Axonal spheroids are bubble-like biological features that form on most degenerating axons. During neurodegeneration, bubble-like swellings form along the length of the axon, a primary and early effect of dynamic axonal deformation. These varicosities, spheroids, or swellings have been described as beads on a string and branches bearing fruit, and they frequently appear on degenerating axons. The focal swellings on degenerating axons, axonal spheroids, are often filled with cellular debris such as organelles, pathological proteins, and disorganized cytoskeletal elements.|HPO|N|
C5706200|Increased concentration of biliverdin, a green tetrapyrrolic bile pigment, in the blood circulation.|HPO|N|
C5706201|Increased ratio of insulin to C-peptide in the blood circulation.|HPO|N|
C5706202|A deviation from the normal range of the left ventricular endsystolic diameter.|HPO|N|
C5706203|A lower than normal left ventricular endsystolic diameter.|HPO|N|
C5706204|Abnormally decreased levels of glycine in cerebrospinal fluid.|HPO|N|
C5706205|An abnormality of a geniohyoid muscle.|HPO|N|
C5706207|Abnormal expressions (movements or position of muscles of the face that convey the emotional state of an individual to observers during social interactions) comprising abnormalities of quantity, range, context-appropriateness, and quality.|HPO|N|
C5706209|Spontaneous production of communicative facial expressions that have poor quality or are exaggerated or muted.|HPO|N|
C5706210|Abnormality in the use of gestures defined as hand, shoulder, and head movements that convey a shared meaning within a culture that replace or supplement verbal communication.|HPO|N|
C5706211|Reduced use of reciprocal (back and forth) conversation, as compared to what would be expected for language level.|HPO|N|
C5706212|An abnormality of an inferior alveolar artery.|HPO|N|
C5706213|Used to refer to a monogenic trait linked to an autosomal locus in which the phenotypic effects of allelic differences are expressed only in the male sex.|HPO|N|
C5706215|A pituitary neuroendocrine tumor in which further characterization regarding subtyping is not available.|NCI|N|
C5706226|A follicular-derived thyroid gland carcinoma that is histologically differentiated and has high-grade features.|NCI|N|
C5706232|An inherited neoplastic syndrome caused by mutations in the MYC-associated factor X (MAX) gene. It is associated with the development of paragangliomas/pheochromocytomas, pituitary neuroendocrine tumors, and parathyroid adenomas. Renal cell carcinomas, squamous cell carcinomas, breast carcinomas, lung carcinomas, and endometrial carcinomas have also been reported.|NCI|N|
C5706233|A rare form of chronic graft-versus-host disease characterized by cutaneous features and/or mucocutaneous features including sclerosis, atrophy, and contractures. It may manifest as localized or generalized disease.|NCI|N|
C5706234|Rapid progression of a myeloproliferative neoplasm, characterized by the presence of myeloblasts accounting for 10-19% of the peripheral blood white cells or the nucleated cells in the bone marrow.|NCI|N|
C5706235|Transformation of a myeloproliferative neoplasm into acute myeloid leukemia, typically via accelerated phase myeloproliferative neoplasm. Myeloblasts account for 20% or more of the peripheral blood white cells or the nucleated cells in the bone marrow.|NCI|N|
C5706237|A group of rare but severe toxicities resembling hemophagocytic lymphohistiocytosis (HLH) that present in a subset of patients with cytokine release syndrome (CRS) following chimeric antigen receptor (CAR) T-cell therapy. Characteristic findings may include hyperferritinemia, hypertriglyceridemia, hypofibrinogenemia, coagulopathy, hepatic transaminitis, hyperbilirubinemia, neutropenia, elevated lactate dehydrogenase, and occasionally hemophagocytosis.|NCI|N|
C5706268|A molecular subtype of lung small cell carcinoma characterized by the overexpression of achaete-scute homolog 1 (ASCL1) transcription factor. It is associated with high expression of neuroendocrine markers and classic morphology.|NCI|N|
C5706269|A molecular subtype of lung small cell carcinoma characterized by the overexpression of neurogenic differentiation factor 1 (NEUROD1). It is associated with low expression of neuroendocrine markers and variant morphology.|NCI|N|
C5706270|A molecular subtype of lung small cell carcinoma characterized by the overexpression of POU class 2 homeobox 3 (POU2F3) transcription factor.|NCI|N|
C5706271|A molecular subtype of lung small cell carcinoma characterized by the low expression of achaete-scute homolog 1 (ASCL1), neurogenic differentiation factor 1 (NEUROD1), and POU class 2 homeobox 3 (POU2F3) transcription factor signatures and elevated inflammatory gene signature expression.|NCI|N|
C5706272|A molecular subtype of lung small cell carcinoma characterized by the overexpression of yes-associated protein 1 (YAP1) transcription factor.|NCI|N|
C5706273|An extremely rare renal cell carcinoma characterized by the presence of chromosomal translocations involving the chromosome 2p23 breakpoint that result in gene fusions between the anaplastic lymphoma kinase gene (ALK) and various gene partners.|NCI|N|
C5706274|A renal cell carcinoma associated with biallelic somatic mutations in the TSC1 or TSC2 genes and characterized by the presence of neoplastic polygonal cells with abundant eosinophilic cytoplasm and cystic changes.|NCI|N|
C5706289|A primary carcinoma of the thyroid gland containing a medullary carcinoma component that is immunohistochemically positive for calcitonin, and follicular cell-derived carcinoma component that is immunohistochemically positive for thyroglobulin.|NCI|N|
C5706293|Describes areas on an x-ray or CT scan that show up as brighter than surrounding tissues.|NCI|N|
C5706615|Myasthenia gravis presenting with any ocular weakness; may have weakness of eye closure. All other muscles strength is normal.|NCI|N|
C5706616|Myasthenia gravis presenting with mild weakness affecting non-ocular muscles. May also have ocular muscle weakness of any severity.|NCI|N|
C5706617|Myasthenia gravis presenting with moderate weakness affecting non-ocular muscles. May also have ocular muscle weakness of any severity.|NCI|N|
C5706618|Myasthenia gravis presenting with severe weakness affecting non-ocular muscles. May also have ocular muscle weakness of any severity.|NCI|N|
C5706619|Myasthenia gravis presenting with severe muscle weakness that requires intubation, with or without mechanical ventilation, except when employed during routine postoperative management.|NCI|N|
C5706639|A corticotroph pituitary neuroendocrine tumor composed of basophilic PAS-positive cells that are diffusely and strongly positive for ACTH, consistent with the abundance of secretory granules seen at the ultrastructural level. (WHO)|NCI|N|
C5706640|A corticotroph pituitary neuroendocrine tumor composed of faintly basophilic or chromophobic PAS-positive cells with weak or patchy positivity for ACTH, consistent with the scant, small secretory granules seen ultrastructurally. (WHO)|NCI|N|
C5706641|A plurihormonal pituitary neuroendocrine tumor consisting of a single cell type producing two (or rarely more) hormones. (WHO)|NCI|N|
C5706642|A plurihormonal pituitary neuroendocrine tumor consisting of two or more different cell lineages. (WHO)|NCI|N|
C5706672|The spread of benign or malignant tissue during medical or surgical procedures.|NCI|N|
C5706679|A well-differentiated, low or intermediate grade neuroendocrine neoplasm that arises from the head and neck.|NCI|N|
C5706680|A well-differentiated, intermediate grade neuroendocrine neoplasm that arises from the head and neck.|NCI|N|
C5706681|A well-differentiated, intermediate grade neuroendocrine neoplasm that arises from the larynx.|NCI|N|
C5706683|A high-grade neuroendocrine carcinoma that arises from the salivary glands. This category includes small cell and large cell neuroendocrine carcinoma.|NCI|N|
C5706864|A result of a function test.|NCI|N|
C5706868|A squamous cell carcinoma associated with human papillomavirus that has metastasized to the head and neck region from an unknown primary anatomic site.|NCI|N|
C5706870|An acute leukemia that occurs during childhood.|NCI|N|
C5706872|A status indicating that something is ready to be transported.|NCI|N|
C5706886|A nodule entirely contained within a bronchus; it may obstruct the airway, but does not breach the bronchial wall.|NCI|N|
C5706887|A nodule that is directly underlying a pleural surface though there may be separation between the nodule margin and pleura.|NCI|N|
C5706888|A pituitary neuroendocrine tumor arising from PIT1-lineage adenohypophysial cells.|NCI|N|
C5706889|A pituitary neuroendocrine tumor arising from TPIT-lineage adenohypophysial cells.|NCI|N|
C5706890|A pituitary neuroendocrine tumor arising from SF1-lineage adenohypophysial cells.|NCI|N|
C5706892|A pituitary neuroendocrine tumor that belongs to more than one adenohypophysial cell lineage or does not show evidence of adenohypophysial hormonal immunoreactivity and specific adenohypophysial cell derivation.|NCI|N|
C5706893|A finding indicating that there is no evidence of distinct cell lineage differentiation in a tumor sample.|NCI|N|
C5706894|A well-differentiated pituitary neuroendocrine tumor composed of PIT1-lineage adenohypophyseal cells with acidophilic cytoplasm, extensive immunoreactivity for growth hormone and variable immunoreactivity for TSH, prolactin, and alpha-subunit. (WHO)|NCI|N|
C5706895|An immature pituitary neuroendocrine tumor composed of PIT1-lineage adenohypophyseal cells with cytologic atypia and limited differentiation towards thyrotroph, somatotroph, and/or lactotroph cells. (WHO)|NCI|N|
C5706904|An indication that it took more than three months for a subject''s blood concentration of prostate specific antigen to double.|NCI|N|
C5706905|A nucleotide substitution at position 926 of the coding sequence of the ERBB2 gene where guanine has been mutated to cytosine.|NCI|N|
C5706906|A nucleotide substitution at position 1958 of the coding sequence of the ERBB2 gene where cytosine has been mutated to guanine.|NCI|N|
C5706907|A change in the amino acid residue at position 653 in the receptor tyrosine-protein kinase erbB-2 protein where serine has been replaced by cysteine.|NCI|N|
C5706908|A nucleotide substitution at position 2264 of the coding sequence of the ERBB2 gene where thymine has been mutated to cytosine.|NCI|N|
C5706909|A change in the amino acid residue at position 755 in the receptor tyrosine-protein kinase erbB-2 protein where leucine has been replaced by serine.|NCI|N|
C5706910|A deletion of thymine-thymine and an insertion of cytosine-cytosine at positions 2263 and 2264 of the coding sequence of the ERBB2 gene.|NCI|N|
C5706911|A change in the amino acid residue at position 755 in the receptor tyrosine-protein kinase erbB-2 protein where leucine has been replaced by proline.|NCI|N|
C5706912|A nucleotide substitution at position 2584 of the coding sequence of the ERBB2 gene where adenine has been mutated to guanine.|NCI|N|
C5706913|A change in the amino acid residue at position 862 in the receptor tyrosine-protein kinase erbB-2 protein where threonine has been replaced by alanine.|NCI|N|
C5706914|A deletion of 15 nucleotides (TGAGGGAAAACACA) from the coding sequence of the ERBB2 gene from position 2264 through 2278.|NCI|N|
C5706915|A deletion of five amino acid residues starting with position 755 and ending with position 759 (leucine-arginine-glutamic acid-asparagine-threonine) from the receptor tyrosine-protein kinase erbB-2 protein.|NCI|N|
C5706916|Hormone receptor-positive breast carcinoma that is not amenable to surgical resection.|NCI|N|
C5706917|HER2-negative breast carcinoma that is not amenable to surgical resection.|NCI|N|
C5706918|Lung large cell neuroendocrine carcinoma that is not amenable to surgical resection.|NCI|N|
C5706919|Lung large cell neuroendocrine carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5706920|A nucleotide substitution at position 2632 of the coding sequence of the ERBB2 gene where cytosine has been mutated to thymine.|NCI|N|
C5706921|A change in the amino acid residue at position 878 in the receptor tyrosine-protein kinase erbB-2 protein where histidine has been replaced by tyrosine.|NCI|N|
C5706922|A change in the amino acid residue at position 776 in the receptor tyrosine-protein kinase erbB-2 protein where glycine has been replaced by valine.|NCI|N|
C5706923|A nucleotide substitution at position 2326 of the coding sequence of the ERBB2 gene where guanine has been mutated to thymine.|NCI|N|
C5706924|A change in the amino acid residue at position 776 in the receptor tyrosine-protein kinase erbB-2 protein where glycine has been replaced by cysteine.|NCI|N|
C5706925|A duplication of nine nucleotides (GGGCTCCCC) starting at position 2331 and ending at position 2339 of the coding sequence of the ERBB2 gene.|NCI|N|
C5706926|A duplication of nine nucleotides (GGCTCCCCA) starting at position 2332 and ending at position 2340 of the coding sequence of the ERBB2 gene.|NCI|N|
C5706927|A tandem duplication of three amino acids, glycine-serine-proline, between the proline at position 780 and the tyrosine at position 781 in the receptor tyrosine-protein kinase erbB-2 protein.|NCI|N|
C5706928|A nucleotide substitution at position 1979 of the coding sequence of the ERBB2 gene where guanine has been mutated to adenine.|NCI|N|
C5706929|A change in the amino acid residue at position 660 in the receptor tyrosine-protein kinase erbB-2 protein where glycine has been replaced by aspartic acid.|NCI|N|
C5706930|A nucleotide substitution at position 2077 of the coding sequence of the ERBB2 gene where guanine has been mutated to adenine.|NCI|N|
C5706931|A change in the amino acid residue at position 693 in the receptor tyrosine-protein kinase erbB-2 protein where glutamic acid has been replaced by lysine.|NCI|N|
C5706932|A nucleotide substitution at position 2126 of the coding sequence of the ERBB2 gene where adenine has been mutated to thymine.|NCI|N|
C5706933|A change in the amino acid residue at position 709 in the receptor tyrosine-protein kinase erbB-2 protein where glutamine has been replaced by leucine.|NCI|N|
C5706934|A nucleotide substitution at position 2521 of the coding sequence of the ERBB2 gene where cytosine has been mutated to guanine.|NCI|N|
C5706935|A change in the amino acid residue at position 841 in the receptor tyrosine-protein kinase erbB-2 protein where leucine has been replaced by valine.|NCI|N|
C5706936|A nucleotide substitution at position 2596 of the coding sequence of the ERBB2 gene where cytosine has been mutated to adenine.|NCI|N|
C5706937|A change in the amino acid residue at position 866 in the receptor tyrosine-protein kinase erbB-2 protein where leucine has been replaced by methionine.|NCI|N|
C5706938|A nucleotide substitution at position 2686 of the coding sequence of the ERBB2 gene where cytosine has been mutated to thymine.|NCI|N|
C5706939|A change in the amino acid residue at position 896 in the receptor tyrosine-protein kinase erbB-2 protein where arginine has been replaced by cysteine.|NCI|N|
C5706942|The reemergence of childhood osteosarcoma after a period of remission.|NCI|N|
C5706945|Childhood osteosarcoma that is resistant to treatment.|NCI|N|
C5706946|Childhood rhabdomyosarcoma that is resistant to treatment.|NCI|N|
C5706947|Childhood soft tissue sarcoma that is resistant to treatment.|NCI|N|
C5706948|Lung carcinoma that has metastasized to a limited number of sites.|NCI|N|
C5706949|Childhood Hodgkin or non-Hodgkin lymphoma that is resistant to treatment.|NCI|N|
C5706950|A change in the nucleotide sequence of exon 19 of the ERBB2 gene.|NCI|N|
C5706956|A primary or metastatic malignant neoplasm affecting the brain during childhood.|NCI|N|
C5706959|A childhood malignant solid neoplasm that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5706960|A childhood malignant neoplasm that has spread from its original site of growth to the brain.|NCI|N|
C5706961|A childhood malignant neoplasm that arises from the brain and has spread from its original site of growth to other anatomic sites.|NCI|N|
C5706962|A childhood malignant brain neoplasm that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5706963|A central nervous system neoplasm in childhood that is resistant to treatment.|NCI|N|
C5706964|A childhood brain neoplasm that is resistant to treatment.|NCI|N|
C5706975|Ovarian serous cystadenocarcinoma that has spread from the original site of growth to other anatomic sites.|NCI|N|
C5706976|Ovarian serous cystadenocarcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5706982|The reemergence of ovarian serous cystadenocarcinoma after a period of remission.|NCI|N|
C5706983|Ovarian serous cystadenocarcinoma that has spread from its original site of growth to nearby tissues or lymph nodes.|NCI|N|
C5706984|Extrahepatic bile duct carcinoma that has spread from its original site of growth to nearby tissues or lymph nodes.|NCI|N|
C5706986|Problems associated with a product having less efficacy than expected. No other malfunctions could be identified.|NCI|N|
C5706987|Problem associated with the narrowing or obstruction of the device (e.g. prosthetic heart valves, stents, etc.).|NCI|N|
C5706988|More than the usual number of components present/additional components from this or other devices.|NCI|N|
C5706989|Problem associated with the escape of blood through the center of the heart valve or the backward flow of blood through the heart valve.|NCI|N|
C5706990|Escape (release, discharge) of powder (including particulates) through an unintended location, often accompanied by a loss of pressure and/or output.|NCI|N|
C5706991|Problem associated with the device failing to seal the intended vessel with the device intended to provide a seal (e.g. electrosurgical hemostasis).|NCI|N|
C5706992|Strength of an adhesive bond is too great; typically used when the adhesive is meant as a temporary hold but is acting in a more permanent manner.|NCI|N|
C5706994|Problem associated with an incorrect label being affixed to the device or packaging.|NCI|N|
C5706995|A morphologic finding indicating the presence of a neoplastic cellular infiltrate forming organized papillary architecture in a tumor sample.|NCI|N|
C5706996|A benign, encapsulated thyroid gland neoplasm characterized by the presence of large follicles with intrafollicular papillary architecture. The cells lining the papillae are usually columnar. It is usually a cystic neoplasm and lacks nuclear atypia and capsular invasion. Psammoma bodies are not present. Activating TSHR mutations have been described in the majority of cases. In a small number of cases GNAS mutations have been identified.|NCI|N|
C5707003|A neurological state characterized by increased ability to perceive and respond.|NCI|N|
C5707004|A finding that refers to a solid neoplasm in which the incidence of metastatic spread is low.|NCI|N|
C5707005|A thyroid gland neoplasm in which the incidence of metastatic spread is extremely low. This category includes thyroid gland noninvasive follicular neoplasm with papillary-like nuclear features, thyroid gland hyalinizing trabecular tumor, and thyroid gland tumors of uncertain malignant potential.|NCI|N|
C5707006|A molecular abnormality indicating rearrangement of an GLIS family gene.|NCI|N|
C5707007|Inadequate blood flow.|NCI|N|
C5707008|An encapsulated or well-circumscribed thyroid gland tumor composed of well-differentiated follicular cells, in which capsular or vascular invasion is indeterminate.|NCI|N|
C5707025|A malignant testicular germ cell tumor that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5707034|A carcinoid tumor that has spread to nearby tissues or lymph nodes.|NCI|N|
C5707036|Digestive system neuroendocrine tumor G1 that has spread from its original site of growth to nearby tissues or lymph nodes.|NCI|N|
C5707038|Digestive system neuroendocrine tumor G2 that has spread from its original site of growth to nearby tissues or lymph nodes.|NCI|N|
C5707041|Digestive system neuroendocrine tumor G2 that is not amenable to surgical resection.|NCI|N|
C5707043|Myasthenia gravis presenting with mild weakness predominantly affecting limb, axial muscles, or both. May also have lesser involvement of oropharyngeal muscles.|NCI|N|
C5707044|Myasthenia gravis presenting with mild weakness predominantly affecting oropharyngeal, respiratory muscles, or both. May also have lesser or equal involvement of limb, axial muscles, or both.|NCI|N|
C5707045|Myasthenia gravis presenting with moderate weakness predominantly affecting limb, axial muscles, or both. May also have lesser involvement of oropharyngeal muscles.|NCI|N|
C5707046|Myasthenia gravis presenting with moderate weakness predominantly affecting oropharyngeal, respiratory muscles, or both. May also have lesser or equal involvement of limb, axial muscles, or both.|NCI|N|
C5707047|Myasthenia gravis presenting with severe weakness predominantly affecting limb, axial muscles, or both. May also have lesser involvement of oropharyngeal muscles.|NCI|N|
C5707048|Myasthenia gravis presenting with severe weakness predominantly affecting oropharyngeal, respiratory muscles, or both. May also have lesser or equal involvement of limb, axial muscles, or both.|NCI|N|
C5707050|Sudden unexpected leakage of bile from the liver or soft tissue.|NCI|N|
C5707051|Liquid or a pocket of air trapped under the skin, typically due to injection procedures.|NCI|N|
C5707053|Infection around an implant following joint replacement.|NCI|N|
C5707054|Endometrial serous adenocarcinoma that has a documented response to platinum-based chemotherapy.|NCI|N|
C5707055|The worsening of a disease over time due to inadequate treatment.|NCI|N|
C5707056|Exposure to a non-sterile device or conditions where infection is likely.|NCI|N|
C5707057|There is not yet enough information available to classify the medical device component.|NCI|N|
C5707058|An immunohistochemical finding indicating that at most 50 percent of the cells in a sample are expressing PD-L1.|NCI|N|
C5707059|High blood or serum levels of ions which are attributed to one or more medical devices used, such as but not limited to Co, Cr, Ti, Ni, Mo.|NCI|N|
C5707060|Primary peritoneal carcinoma that has spread from its original site of growth to nearby tissues or lymph nodes and is not amenable to surgical resection.|NCI|N|
C5707061|Fallopian tube carcinoma that has spread from its original site of growth to nearby tissues or lymph nodes and is not amenable to surgical resection.|NCI|N|
C5707062|HER2-negative breast carcinoma that has spread from its original site of growth to nearby tissues or lymph nodes and is not amenable to surgical resection.|NCI|N|
C5707063|Hormone receptor-positive breast carcinoma that has spread from its original site of growth to nearby tissues or lymph nodes.|NCI|N|
C5707064|Hormone receptor-positive breast carcinoma that has spread from its original site of growth to nearby tissues or lymph nodes and is not amenable to surgical resection.|NCI|N|
C5707065|Triple-negative breast carcinoma that has spread from its original site of growth to nearby tissues or lymph nodes and is not amenable to surgical resection.|NCI|N|
C5707066|A morphologic finding indicating the presence of extracellular mucin in a tumor sample.|NCI|N|
C5707067|A rare variant of invasive breast lobular carcinoma characterized by the presence of pools of extracellular mucin in which groups of floating lobular carcinoma cells are identified.|NCI|N|
C5707068|Endometrial carcinoma that has spread from its original site of growth to nearby tissues or lymph nodes and is not amenable to surgical resection.|NCI|N|
C5707069|A nucleotide substitution at position 946 of the coding sequence of the MAP2K2 gene where guanine has been mutated to adenine.|NCI|N|
C5707070|A variation in the amino acid sequence for the dual specificity mitogen-activated protein kinase 1 protein.|NCI|N|
C5707071|A change in the amino acid residue at position 322 in the dual specificity mitogen-activated protein kinase 1 protein where glutamic acid has been replaced by lysine.|NCI|N|
C5707072|A molecular abnormality indicating rearrangement of the WWTR1 gene.|NCI|N|
C5707073|A non-small cell squamous carcinoma of the lung that has spread from its original site of growth to nearby tissues or lymph nodes and is not amenable to surgical resection.|NCI|N|
C5707074|Cholangiocarcinoma that has spread from its original site of growth to nearby tissues or lymph nodes and is not amenable to surgical resection.|NCI|N|
C5707075|Gallbladder carcinoma that has spread from its original site of growth to nearby tissues or lymph nodes and is not amenable to surgical resection.|NCI|N|
C5707078|A molecular abnormality indicating rearrangement of the GLIS1 gene.|NCI|N|
C5707083|A change in the nucleotide sequence of the SGK1 gene.|NCI|N|
C5707084|A genetic subtype of diffuse large B-cell lymphoma characterized by SGK1 and TET2 gene mutations.|NCI|N|
C5707085|A genetic subtype of diffuse large B-cell lymphoma characterized by TP53 gene mutations and deletions that is often accompanied by aneuploidy.|NCI|N|
C5707086|Malignant bone neoplasm that is amenable to surgical resection.|NCI|N|
C5707087|Childhood acute myeloid leukemia that does not respond to treatment.|NCI|N|
C5707088|Pancreatic ductal adenocarcinoma that has metastasized to a limited number of sites.|NCI|N|
C5707269|A morphologic variant of follicular carcinoma of the thyroid gland characterized by the presence of malignant follicular cells with cytoplasmic vacuoles and eccentrically placed nuclei.|NCI|N|
C5707270|A thyroid gland papillary carcinoma characterized by the presence of thin cores of fibrovascular tissue lined by one or occasionally several layers of malignant cells with distinct nuclear features that include nuclear pseudoinclusions, nuclear grooves, and ground glass nuclear inclusions.|NCI|N|
C5707271|A thyroid gland carcinoma that arises from follicular cells and is characterized by the presence of high mitotic activity and necrotic changes in the absence of anaplastic histological features. This category includes poorly differentiated thyroid gland carcinoma and differentiated high-grade thyroid gland carcinoma.|NCI|N|
C5707293|A molecular abnormality referring to the loss of at least one copy of the WT1 gene.|NCI|N|
C5707296|A change in the nucleotide sequence of the IL2RG gene.|NCI|N|
C5707297|A change in the nucleotide sequence of the RAG1 gene.|NCI|N|
C5707298|A change in the nucleotide sequence of the RAG2 gene.|NCI|N|
C5707301|A type of esophageal atresia (EA) / tracheoesophageal fistula (TEF) in which the upper segment of the esophagus ends in a blind pouch and the lower segment is connected to the trachea via a TEF. This is the most common type of EA/TEF, which accounts for approximately 85 percent of cases.|NCI|N|
C5707500|A spontaneous muscular disease in minipigs, characterized by changes in skeletal myofibers, including both acute (dominated by necrosis, hemorrhage, edema, and mixed inflammatory cell infiltrates) and more chronic lesions (characterized by basophilic regenerating myofibers, mineralization, and occasionally fibrosis). (INHAND)|NCI|N|
C5707505|Mantle cell lymphoma occurring in a mouse.|NCI|N|
C5707508|An invasive adenocarcinoma of the thyroid gland characterized by the presence of cells that secrete eosinophilic material. It is composed of cystic spaces, tubular structures, and solid areas. ETV6 translocations and ETV6-NTRK3 fusion are present.|NCI|N|
C5707522|A teratoma that arises outside an endocrine organ and shows endocrine differentiation. The endocrine component ranges from benign endocrine tissue to malignant endocrine neoplasms. This category includes struma ovarii, thyroid carcinoma arising in struma ovarii, and carcinoid tumor arising in ovarian teratoma.|NCI|N|
C5707523|A finding in a tissue sample indicating the presence of epithelial cells that synthesize and secrete hormones.|NCI|N|
C5707524|An ovarian teratoma characterized by the presence of a neoplastic neuroendocrine component consistent with carcinoid tumor.|NCI|N|
C5707529|A clonal lymphoproliferative disorder composed of neoplastic B-cells. It includes B-cell non-Hodgkin lymphomas, B-cell leukemias, and plasma cell myeloma.|NCI|N|
C5707531|A cytogenetic abnormality that refers to allelic gain within the chromosomal arm 1p.|NCI|N|
C5707534|Parathyroid gland hyperplasia that occurs in the absence of physiological stimuli.|NCI|N|
C5707535|Parathyroid gland hyperplasia that occurs in response to physiological stimuli (e.g., vitamin D deficiency, hyperphosphatemia, and hypocalcemia).|NCI|N|
C5707536|Mast cell leukemia associated with another clonal non-mast cell hematologic neoplasm (e.g., myelodysplastic syndrome, chronic myeloproliferative disorder, acute myeloid leukemia, and lymphoma).|NCI|N|
C5707537|Bladder urothelial carcinoma that is amenable to surgical resection.|NCI|N|
C5707538|A finding indicating the presence of a high risk bladder urothelial carcinoma invading into the bladder muscularis propria.|NCI|N|
C5707539|Alveolar soft part sarcoma that is resistant to treatment.|NCI|N|
C5707540|Breast carcinoma that is amenable to surgical resection.|NCI|N|
C5707541|Adrenal cortical carcinoma that is resistant to treatment.|NCI|N|
C5707543|Wilms tumor that is resistant to treatment.|NCI|N|
C5707545|Smoldering systemic mastocytosis associated with the presence of a clonal non-mast cell hematologic neoplasm (e.g., myelodysplastic syndrome, chronic myeloproliferative disorder, acute myeloid leukemia, and lymphoma).|NCI|N|
C5707547|A well differentiated, low grade neuroendocrine neoplasm (carcinoid tumor) that arises from the sigmoid colon. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent.|NCI|N|
C5707549|A rare epithelioid sarcoma of the proximal type that arises from the pleura.|NCI|N|
C5707552|A rare extraskeletal osteosarcoma that arises from the lung parenchyma.|NCI|N|
C5707553|A rare leiomyosarcoma that arises from the pleural cavity.|NCI|N|
C5707554|An exceedingly rare malignant peripheral nerve sheath tumor that arises from the bone.|NCI|N|
C5707555|A rare leiomyosarcoma that arises from the pancreas.|NCI|N|
C5707556|A melanoma that arises from the jejunum.|NCI|N|
C5707557|A rare carcinoma that arises from the lung and has histopathological, immunohistochemical, and genetic features identical to those described in breast and salivary gland secretory carcinomas.|NCI|N|
C5707559|A rhabdomyosarcoma arising from the retroperitoneum.|NCI|N|
C5707560|Diffuse large B-cell lymphoma that affects the tonsil and the bulk of the tumor is in this anatomic area.|NCI|N|
C5707561|Malignant peripheral nerve sheath tumor that arises in the retroperitoneum.|NCI|N|
C5707562|Infiltration of the uterine corpus by malignant (clonal) plasma cells in patients with history of plasma cell myeloma.|NCI|N|
C5707563|A carcinoma that has spread to the rectum from another anatomic site.|NCI|N|
C5707564|A carcinoma that has spread to the pancreas from another anatomic site.|NCI|N|
C5707565|An epithelioid cell melanoma arising from the rectum.|NCI|N|
C5707566|A rare mantle cell lymphoma that affects the tonsil and the bulk of the tumor is in this anatomic area.|NCI|N|
C5707595|A squamous cell carcinoma that has spread to the breast from another anatomic site.|NCI|N|
C5707596|A B-or T-cell non-Hodgkin lymphoma arising in the skin.|NCI|N|
C5707597|A rare embryonal rhabdomyosarcoma that arises in the middle ear.|NCI|N|
C5707602|The reemergence of oligodendroglioma, IDH-mutant and 1p/19q-codeleted after a period of remission.|NCI|N|
C5707603|The reemergence of IDH-mutant astrocytoma after a period of remission.|NCI|N|
C5707604|Thyroid gland anaplastic carcinoma that has spread from its original site of growth to nearby tissues or lymph nodes.|NCI|N|
C5707615|Down syndrome caused by translocation of the long arm of chromosome 21, resulting in trisomy 21.|NCI|N|
C5707638|A finding indicating the presence of an intermediate risk bladder urothelial carcinoma that does not invade muscle.|NCI|N|
C5707639|Neoplastic post-transplant lymphoproliferative disorder that is resistant to treatment.|NCI|N|
C5707640|The reemergence of neoplastic post-transplant lymphoproliferative disorder after a period of remission.|NCI|N|
C5707641|A carcinoma that arises from the adrenal cortex and is composed of oncocytic cells that constitute more than 90% of malignant cells.|NCI|N|
C5707642|A carcinoma that arises from the adrenal cortex and is characterized by the presence of abundant extracellular connective tissue mucin.|NCI|N|
C5707643|A carcinoma that arises from the adrenal cortex and is characterized by the presence of more than twenty mitoses per ten square millimeters.|NCI|N|
C5707644|A rare melanoma that arises within the adrenal cortex.|NCI|N|
C5707648|A semi-quantitative microscopic finding indicating that between 5 and 25 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells of lymphoid origin.|NCI|N|
C5707655|Alveolar soft part sarcoma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5707659|A finding indicating that a sample is expressing lower levels of poly [ADP-ribose] polymerase enzyme activity than that expressed by a reference or comparative sample.|NCI|N|
C5707660|Soft tissue leiomyosarcoma that has spread to nearby tissues or lymph nodes.|NCI|N|
C5707661|Uterine corpus leiomyosarcoma that has spread from its original site of growth to another anatomic site.|NCI|N|
C5707662|Uterine corpus leiomyosarcoma that has spread to nearby tissues or lymph nodes.|NCI|N|
C5707663|Uterine corpus leiomyosarcoma that is not amenable to surgical resection.|NCI|N|
C5707667|A benign, usually encapsulated slow growing tumor composed of Schwann cells affecting the seventh cranial nerve.|NCI|N|
C5707668|A rare mixed neuroendocrine non-neuroendocrine neoplasm that arises from the pancreas and is composed of ductal adenocarcinoma and a neuroendocrine neoplastic component. The latter is usually a poorly differentiated neuroendocrine carcinoma and rarely a well differentiated neuroendocrine tumor.|NCI|N|
C5707670|A well-differentiated neuroendocrine neoplasm that arises from the cervix. It may be classified as G1 (low grade) or G2 (intermediate grade) neuroendocrine tumor.|NCI|N|
C5707671|A neoplasm with neuroendocrine differentiation that arises from the head and neck. This category includes neuroendocrine tumors, neuroendocrine carcinomas, and paragangliomas.|NCI|N|
C5707672|A well-differentiated, low grade neuroendocrine neoplasm that arises from the larynx.|NCI|N|
C5707673|A well-differentiated, low grade neuroendocrine neoplasm that arises from the head and neck.|NCI|N|
C5707675|The reemergence of a digestive system neuroendocrine neoplasm after a period of remission.|NCI|N|
C5707676|Microsatellite stable endometrial carcinoma that is resistant to treatment.|NCI|N|
C5707679|A rare lipoma that arises from the adrenal gland.|NCI|N|
C5707680|A rare hemangioma that arises from the adrenal gland.|NCI|N|
C5707681|A rare lymphangioma that arises from the adrenal gland.|NCI|N|
C5707682|A rare leiomyosarcoma that arises from the adrenal gland.|NCI|N|
C5707684|A change in the nucleotide sequence of the MAX gene.|NCI|N|
C5707685|An autosomal dominant neoplastic syndrome caused by MAFA (MAF bZIP Transcription Factor A) gene mutations. It is characterized by the development of multiple insulin secreting pancreatic neuroendocrine tumors.|NCI|N|
C5707686|A change in the nucleotide sequence of the MAFA gene.|NCI|N|
C5707691|An inflammatory disease of the stomach and intestines due to a non-infectious cause.|NCI|N|
C5707692|A maternal mental or behavioral disorder that occurs in the period following the birth of a child and extending up to six weeks after delivery.|NCI|N|
C5707696|A less than indicated amount of a chemotherapeutic agent given whether inadvertently or deliberately.|NCI|N|
C5707697|An individual history of cancer of the uterus.|NCI|N|
C5707705|Sclerodermatous Graft Versus Host Disease that is resistant to treatment.|NCI|N|
C5707710|Transformation of primary myelofibrosis into acute myeloid leukemia, typically via accelerated phase primary myelofibrosis. Myeloblasts account for 20% or more of the peripheral blood white cells or the nucleated cells in the bone marrow.|NCI|N|
C5707718|A semi-quantitative microscopic finding indicating more than 10 percent of the area of a tissue section has follicular structures.|NCI|N|
C5707722|Breast adenocarcinoma that is positive for estrogen receptors.|NCI|N|
C5707723|A disease that persists locally and/or regionally in regards to the site of origin despite treatment.|NCI|N|
C5707735|A response indicating that no lymph node involvement was detected when the location of a tumor bulk maximum was examined.|NCI|N|
C5707738|A breast cancer estimated recurrence score that is derived using semi-quantitative assessments (via H-score) of the expression levels of estrogen and progesterone receptors, Nottingham score, KI-67%, HER2 status, and tumor size.|NCI|N|
C5707739|The reemergence of platinum-sensitive ovarian carcinoma after a period of remission.|NCI|N|
C5707741|Chronic hepatitis or cirrhosis without portal hypertension.|NCI|N|
C5707742|Cirrhosis with portal hypertension but without any history of variceal bleeding.|NCI|N|
C5707743|Cirrhosis and portal hypertension with variceal bleeding, ascites, chronic jaundice, or status post liver transplantation.|NCI|N|
C5707781|Myelodysplastic syndrome with excess blasts that occurs during childhood.|NCI|N|
C5707782|An acute myeloid leukemia with t(8;21)(q22; q22.1); RUNX1-RUNX1T1 occurring in children.|NCI|N|
C5707783|An acute myeloid leukemia with t(9;11)(p21.3;q23.3); MLLT3-MLL occurring in children.|NCI|N|
C5707785|B lymphoblastic leukemia/lymphoma that occurs during childhood.|NCI|N|
C5707787|Primary mediastinal (thymic) large B-cell lymphoma that occurs during childhood.|NCI|N|
C5707788|An EBV-positive diffuse large B-cell lymphoma, not otherwise specified, that occurs during childhood. It was originally described in patients older than 50 years, but it has been increasingly recognized in younger patients.|NCI|N|
C5707789|An EBV-positive diffuse large B-cell lymphoma, not otherwise specified, that occurs in adults. It was originally described in patients older than 50 years, but it has been increasingly recognized in younger patients.|NCI|N|
C5707790|A large B-cell lymphoma with IRF4 rearrangement that occurs during childhood.|NCI|N|
C5707791|A peripheral T-cell lymphoma, not otherwise specified, that occurs during childhood.|NCI|N|
C5707792|An anaplastic large cell lymphoma, ALK-positive that occurs during childhood.|NCI|N|
C5707799|An astrocytoma that is amenable to surgical resection.|NCI|N|
C5707800|An oligodendroglioma that is amenable to surgical resection.|NCI|N|
C5707803|A score of 1 on the Myeloma Frailty Index.|NCI|N|
C5707805|A change in the nucleotide sequence of the NSD2 gene.|NCI|N|
C5707806|A change in the nucleotide sequence of the UBR5 gene.|NCI|N|
C5707807|A change in the nucleotide sequence of the FAT1 gene.|NCI|N|
C5707808|A change in the nucleotide sequence of the POT1 gene.|NCI|N|
C5707809|A change in the nucleotide sequence of the BIRC3 gene.|NCI|N|
C5707966|A change in the nucleotide sequence of the DIS3 gene.|NCI|N|
C5707967|A nucleotide substitution at position 530 of the coding sequence of the SIX1 gene where adenine has been mutated to guanine.|NCI|N|
C5707968|A variation in the amino acid sequence for homeobox protein SIX1.|NCI|N|
C5707969|A change in the amino acid residue at position 177 in homeobox protein SIX1 where glutamine has been replaced by arginine.|NCI|N|
C5707970|A change in the nucleotide sequence of the MYCN gene.|NCI|N|
C5707971|A nucleotide substitution at position 131 of the coding sequence of the MYCN gene where cytosine has been mutated to thymine.|NCI|N|
C5707972|A variation in the amino acid sequence for N-myc proto-oncogene protein.|NCI|N|
C5707973|A complex substitution where the nucleotide sequence at positions 131 and 132 of the coding sequence of the MYCN gene has changed from cytosine-cytosine to thymine-thymine.|NCI|N|
C5707974|A change in the amino acid residue at position 44 in N-myc proto-oncogene protein where proline has been replaced by leucine.|NCI|N|
C5707977|A molecular abnormality referring to the loss of at least one copy of the AMER1 gene.|NCI|N|
C5707978|A molecular genetic abnormality indicating the presence of multiple copies of the SALL4 gene.|NCI|N|
C5707983|The reemergence of anaplastic astrocytoma, IDH-wildtype after a period of remission.|NCI|N|
C5707984|A change in the nucleotide sequence of the TLR9 gene.|NCI|N|
C5707985|A single nucleotide variation ~2 kb upstream of the TLR9 gene in its 5'' promoter region where a thymine at genomic position 4398 has been mutated to cytosine.|NCI|N|
C5707986|A nucleotide substitution at position 2281 of the coding sequence of the EGFR gene where guanine has been mutated to thymine.|NCI|N|
C5707987|A change in the amino acid residue at position 761 in the epidermal growth factor receptor protein where aspartic acid has been replaced by tyrosine.|NCI|N|
C5707988|A change in the amino acid residue at position 854 in the epidermal growth factor receptor protein where threonine has been replaced by alanine.|NCI|N|
C5707989|A nucleotide substitution at position 2560 of the coding sequence of the EGFR gene where adenine has been mutated to guanine.|NCI|N|
C5707990|A nucleotide substitution at position 2240 of the coding sequence of the EGFR gene where thymine has been mutated to cytosine.|NCI|N|
C5707991|A change in the amino acid residue at position 747 in the epidermal growth factor receptor protein where leucine has been replaced by serine.|NCI|N|
C5707992|A nucleotide substitution at position 2318 of the coding sequence of the EGFR gene where adenine has been mutated to thymine.|NCI|N|
C5707993|A nucleotide substitution at position 2318 of the coding sequence of the EGFR gene where adenine has been mutated to guanine.|NCI|N|
C5707994|A change in the amino acid residue at position 773 in the epidermal growth factor receptor protein where histidine has been replaced by arginine.|NCI|N|
C5707995|A deletion of 18 nucleotides from the coding sequence of the EGFR gene from position 2240 through 2257.|NCI|N|
C5707996|A deletion of seven amino acids from the epidermal growth factor receptor protein from the leucine at position 747 through the proline at position 753 and an insertion of a serine.|NCI|N|
C5707997|A variation in the amino acid sequence for histone-lysine N-methyltransferase EZH2.|NCI|N|
C5707999|A nucleotide substitution at position 749 of the coding sequence of the TP53 gene where cytosine has been mutated to thymine.|NCI|N|
C5708000|A change in the amino acid residue at position 250 in the cellular tumor antigen p53 protein where proline has been replaced by leucine.|NCI|N|
C5708007|A finding indicating high expression of neuroendocrine markers in a tumor sample.|NCI|N|
C5708008|A finding indicating low expression of neuroendocrine markers in a tumor sample.|NCI|N|
C5708009|Lung small cell carcinoma characterized by high expression pattern of different neuroendocrine markers such as chromogranin A, synaptophysin, neural cell adhesion molecule 1, and gastrin-releasing peptide. It is associated with low numbers of infiltrating immune cells (immune desert phenotype).|NCI|N|
C5708010|Lung small cell carcinoma characterized by low expression pattern of different neuroendocrine markers such as chromogranin A, synaptophysin, neural cell adhesion molecule 1, and gastrin-releasing peptide. It is associated with increased numbers of infiltrating immune cells (immune oasis phenotype).|NCI|N|
C5708015|A genetic finding indicating that tumor cells express elevated levels of genes encoding proteins involved in inflammation and immunity. This signature may include elevated expression of genes involved in interferon signaling, antigen presentation, immune checkpoint regulation and/or the differentiation and activation of cytotoxic T-cells.|NCI|N|
C5708017|An immunohistochemical finding indicating that at least 1 percent of the cells in a sample are expressing PD-L1.|NCI|N|
C5708021|A change in the amino acid residue at position 646 in the histone-lysine N-methyltransferase EZH2 protein where tyrosine has been replaced by another amino acid.|NCI|N|
C5708022|A nucleotide substitution at position 1936 of the coding sequence of the EZH2 gene where thymine has been mutated to cytosine.|NCI|N|
C5708023|A change in the amino acid residue at position 646 in the histone-lysine N-methyltransferase EZH2 protein where tyrosine has been replaced by histidine.|NCI|N|
C5708026|A nucleotide substitution at position 1936 of the coding sequence of the EZH2 gene where thymine has been mutated to adenine.|NCI|N|
C5708027|A nucleotide substitution at position 1936 of the coding sequence of the EZH2 gene where thymine has been mutated to guanine.|NCI|N|
C5708029|A change in the amino acid residue at position 646 in the histone-lysine N-methyltransferase EZH2 protein where tyrosine has been replaced by aspartic acid.|NCI|N|
C5708030|A nucleotide substitution at position 1937 of the coding sequence of the EZH2 gene where adenine has been mutated to thymine.|NCI|N|
C5708031|A change in the amino acid residue at position 646 in the histone-lysine N-methyltransferase EZH2 protein where tyrosine has been replaced by phenylalanine.|NCI|N|
C5708032|A nucleotide substitution at position 1937 of the coding sequence of the EZH2 gene where adenine has been mutated to cytosine.|NCI|N|
C5708033|A change in the amino acid residue at position 646 in the histone-lysine N-methyltransferase EZH2 protein where tyrosine has been replaced by serine.|NCI|N|
C5708034|A nucleotide substitution at position 1937 of the coding sequence of the EZH2 gene where adenine has been mutated to guanine.|NCI|N|
C5708035|A change in the amino acid residue at position 646 in the histone-lysine N-methyltransferase EZH2 protein where tyrosine has been replaced by cysteine.|NCI|N|
C5708036|The reemergence of high-grade B-cell lymphoma, not otherwise specified, after a period of remission.|NCI|N|
C5708037|High-grade B-cell lymphoma, not otherwise specified, that is resistant to treatment.|NCI|N|
C5708038|The reemergence of ALK-positive large B-cell lymphoma after a period of remission.|NCI|N|
C5708039|ALK-positive large B-cell lymphoma that is resistant to treatment.|NCI|N|
C5708093|A preliminary version of a written work, design, or picture that is awaiting review.|NCI|N|
C5708100|The reemergence of extrarenal rhabdoid tumor after a period of remission.|NCI|N|
C5708101|Extrarenal rhabdoid tumor that is resistant to treatment.|NCI|N|
C5708102|Extrarenal rhabdoid tumor that is not amenable to surgical resection.|NCI|N|
C5708103|Fibrolamellar carcinoma that is resistant to treatment.|NCI|N|
C5708104|Rhabdoid tumor of the kidney that is not amenable to surgical resection.|NCI|N|
C5708113|Diarrhea caused by an immune reaction to an antigen, including a therapeutically administered agent.|NCI|N|
C5708115|A blood concentration of prostate specific antigen less than or equal to 5 ng/mL.|NCI|N|
C5708119|A rare diffuse astrocytoma, MYBL1-altered that occurs during childhood.|NCI|N|
C5708120|A rare diffuse astrocytoma, MYB-altered that occurs during childhood.|NCI|N|
C5708121|A diffuse midline glioma, H3 K27-altered that occurs during childhood.|NCI|N|
C5708122|A rare diffuse midline glioma, H3 K27-altered that occurs during adulthood.|NCI|N|
C5708123|A diffuse intrinsic pontine glioma that occurs during childhood.|NCI|N|
C5708124|A diffuse intrinsic pontine glioma that occurs during adulthood.|NCI|N|
C5708125|A diffuse hemispheric glioma, H3 G34-mutant that occurs during childhood.|NCI|N|
C5708126|A diffuse hemispheric glioma, H3 G34-mutant that occurs in young adults.|NCI|N|
C5708128|An astroblastoma, MN1-altered that occurs during childhood.|NCI|N|
C5708129|An astroblastoma, MN1-altered that occurs during adulthood.|NCI|N|
C5708130|A dysembryoplastic neuroepithelial tumor that occurs during childhood.|NCI|N|
C5708131|A dysembryoplastic neuroepithelial tumor that occurs during adulthood.|NCI|N|
C5708132|A multinodular and vacuolated neuronal tumor that occurs during childhood.|NCI|N|
C5708133|A multinodular and vacuolated neuronal tumor that occurs in adults.|NCI|N|
C5708134|A supratentorial ependymoma ZFTA fusion-positive that occurs during childhood.|NCI|N|
C5708135|A supratentorial ependymoma ZFTA fusion-positive that occurs in adults.|NCI|N|
C5708137|An indication that an individual is not arousable, or only arousable through vigorous or repetitive tactile stimulus.|NCI|N|
C5708138|A posterior fossa ependymoma that occurs during childhood.|NCI|N|
C5708139|An indication that an individual requires oxygen delivered by either a low-flow nasal cannula or a blow-by delivery method.|NCI|N|
C5708140|A posterior fossa ependymoma that occurs in adults.|NCI|N|
C5708141|A ganglioneuroma that occurs during childhood.|NCI|N|
C5708142|A ganglioneuroma that occurs in adults.|NCI|N|
C5708143|An adamantinomatous craniopharyngioma that occurs during childhood.|NCI|N|
C5708144|An adamantinomatous craniopharyngioma that occurs in adults.|NCI|N|
C5708145|A neoplasm that affects the nervous system during childhood.|NCI|N|
C5708146|A neoplasm that affects the peripheral nervous system during childhood.|NCI|N|
C5708148|Epibulbar choristoma composed of mature bone.|NCI|N|
C5708149|An extremely rare developmental abnormality characterized by the presence of ectopic lens tissue usually in the medial lower eyelid, although cases exclusively involving the orbit have been reported.|NCI|N|
C5708150|A rare ganglioneuroma that arises from the choroid.|NCI|N|
C5708151|A soft tissue or bone neoplasm that occurs during childhood.|NCI|N|
C5708152|An NTRK-rearranged spindle cell neoplasm that occurs during childhood.|NCI|N|
C5708153|An EWSR1-SMAD3-positive fibroblastic tumor that occurs during childhood.|NCI|N|
C5708158|A low-grade fibromyxoid sarcoma that occurs during childhood.|NCI|N|
C5708159|A sclerosing epithelioid fibrosarcoma that occurs during childhood.|NCI|N|
C5708160|An inflammatory myofibroblastic tumor that occurs during childhood.|NCI|N|
C5708161|A low-grade myofibroblastic sarcoma that occurs during childhood.|NCI|N|
C5708162|A fibrous histiocytoma that occurs during childhood.|NCI|N|
C5708163|A plexiform fibrohistiocytic tumor that occurs during childhood.|NCI|N|
C5708164|A tenosynovial giant cell tumor that occurs during childhood.|NCI|N|
C5708165|A kaposiform hemangioendothelioma that occurs during childhood.|NCI|N|
C5708166|A pseudomyogenic hemangioendothelioma that occurs during childhood.|NCI|N|
C5708167|A sarcoma that occurs during childhood.|NCI|N|
C5708168|An EBV-associated smooth muscle tumor that occurs during childhood.|NCI|N|
C5708169|A rhabdomyoma that occurs during childhood.|NCI|N|
C5708170|An ectomesenchymoma that occurs during childhood.|NCI|N|
C5708172|A small cell lung carcinoma occurring in a mouse.|NCI|N|
C5708173|A schwannoma that occurs during childhood.|NCI|N|
C5708174|A neurofibroma that occurs during childhood.|NCI|N|
C5708175|A perineurioma that occurs during childhood.|NCI|N|
C5708176|A granular cell tumor that occurs during childhood.|NCI|N|
C5708177|An angiomatoid fibrous histiocytoma that occurs during childhood.|NCI|N|
C5708178|A PEComa that occurs during childhood.|NCI|N|
C5708179|A myoepithelial tumor that occurs during childhood.|NCI|N|
C5708180|A Ewing sarcoma that occurs during childhood.|NCI|N|
C5708181|A round cell sarcoma with EWSR1-non-ETS fusion that occurs during childhood.|NCI|N|
C5708182|A CIC-rearranged sarcoma that occurs during childhood.|NCI|N|
C5708183|A sarcoma with BCOR genetic alterations that occurs during childhood.|NCI|N|
C5708184|A disease or disorder that occurs during the course of, or because of COVID-19 infection or treatment.|NCI|N|
C5708185|A pancreatic ductal adenocarcinoma that has not spread to other anatomic sites.|NCI|N|
C5708186|A pneumonia that occurs during or following treatment for an acute (primary) pneumonia that was caused by a different organism. It may be the result of increased susceptibility due to the initial treatment.|NCI|N|
C5708187|An inflammatory process affecting the liver, bile ducts and gallbladder.|NCI|N|
C5708188|A bone neoplasm that occurs during childhood.|NCI|N|
C5708189|Sarcopenia associated with a significant physiological stressor event, including acute illness, surgery, or trauma.|NCI|N|
C5708190|A sarcoma that arises from the bone and occurs during childhood.|NCI|N|
C5708191|Subungual exostosis that occurs during childhood.|NCI|N|
C5708192|An osteoblastoma that occurs during childhood.|NCI|N|
C5708193|An osteoid osteoma that occurs during childhood.|NCI|N|
C5708194|An osteosarcoma that arises from the bone and occurs during childhood.|NCI|N|
C5708195|A chondroblastoma that occurs during childhood.|NCI|N|
C5708196|An osteochondroma that occurs during childhood.|NCI|N|
C5708197|A rare primary central chondrosarcoma that occurs during childhood.|NCI|N|
C5708198|A rare chondrosarcoma that occurs during childhood.|NCI|N|
C5708199|A bone hemangioma that occurs during childhood.|NCI|N|
C5708200|An aneurysmal bone cyst that occurs during childhood.|NCI|N|
C5708201|A giant cell tumor of bone that occurs during childhood.|NCI|N|
C5708202|A non-ossifying fibroma that occurs during childhood.|NCI|N|
C5708203|A rare chordoma that occurs during childhood.|NCI|N|
C5708204|Fibrous dysplasia that occurs during childhood.|NCI|N|
C5708213|The reemergence of B acute lymphoblastic leukemia, Philadelphia chromosome negative, after a period of remission.|NCI|N|
C5708214|B acute lymphoblastic leukemia, Philadelphia chromosome negative, that does not respond to treatment.|NCI|N|
C5708215|An extragonadal teratoma that occurs during childhood.|NCI|N|
C5708217|A lesion usually seen in prepubertal individuals. In cases of testicular germ cell tumors, it indicates that the tumors are not associated with chromosome 12p amplification or germ cell neoplasia in situ.|NCI|N|
C5708219|A testicular teratoma associated with germ cell neoplasia in situ and chromosome 12p amplification.|NCI|N|
C5708222|Adenocarcinoma that arises from the gallbladder and is not amenable to surgical resection.|NCI|N|
C5708223|Adenocarcinoma that arises from the ampulla of Vater and is not amenable to surgical resection.|NCI|N|
C5708225|A direct or indirect indication of the blood or plasma glucose level of a subject in order to examine their resting metabolism or analyze glycemic responses to dietary challenges or therapeutic interventions.|NCI|N|
C5708228|Approval has been granted by the Food and Drug Administration (FDA) following regulatory review.|NCI|N|
C5708232|A status indicating that an individual has received a COVID-19 vaccination.|NCI|N|
C5708233|Emergency use authorization (EUA) has been granted by the Food and Drug Administration (FDA) following regulatory review.|NCI|N|
C5708234|A status indicating that an individual has not received a COVID-19 vaccination.|NCI|N|
C5708306|A finding indicating that an individual is not currently infected with SARS-CoV-2.|NCI|N|
C5708307|A finding indicating that an individual is currently infected with SARS-CoV-2.|NCI|N|
C5708308|A status indicating that an individual has received a COVID-19 booster vaccination.|NCI|N|
C5708313|A symptom reported following recovery from COVID-19.|NCI|N|
C5708318|A genetic finding indicating that an excess of DNA methylation in the promoter region of the COL1A2 gene has been detected in a sample.|NCI|N|
C5708320|An infection caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) where the individual is still ambulatory but may have limitation of their activities. (based on WHO COVID-19 Disease Severity 1 and 2)|NCI|N|
C5708321|An infection caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) where the individual is hospitalized and may require oxygen therapy. (based on WHO COVID-19 Disease Severity 3 and 4)|NCI|N|
C5708322|An infection caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) where the individual is hospitalized, requires respiratory support, and may also require additional organ support including vasopressor therapy, renal replacement therapy, or extracorporeal membrane oxygenation. (based on WHO COVID-19 Disease Severity 5, 6 and 7)|NCI|N|
C5708323|A change in the nucleotide sequence of the MAP2K1 gene that results in constitutive activation of both dual specificity mitogen-activated protein kinase kinase 1 and its downstream signaling pathways.|NCI|N|
C5708328|A TFE3 or TFEB-rearranged renal cell carcinoma that occurs during childhood.|NCI|N|
C5708329|A kidney carcinoma that occurs during childhood.|NCI|N|
C5708330|A high-grade carcinoma that arises from the renal medulla and is characterized by inactivation of the SMARCB1 gene. It affects children and adults and occurs mainly in patients with sickle cell trait. The majority of the cases occur in the right kidney.|NCI|N|
C5708331|A SMARCB1-deficient kidney medullary carcinoma that occurs during childhood.|NCI|N|
C5708332|An ALK-rearranged renal cell carcinoma that occurs during childhood.|NCI|N|
C5708333|A change in the nucleotide sequence of the TSC1 gene that originates in non-germline cells.|NCI|N|
C5708334|A change in the nucleotide sequence of the TSC2 gene that originates in non-germline cells.|NCI|N|
C5708335|An eosinophilic solid and cystic renal cell carcinoma that occurs during childhood.|NCI|N|
C5708336|A neoplasm that affects the genitourinary system during childhood.|NCI|N|
C5708337|An anaplastic sarcoma of the kidney that occurs during childhood.|NCI|N|
C5708338|An extremely rare Ewing sarcoma that arises from the kidney during childhood.|NCI|N|
C5708339|A malignant neoplasm that affects the genitourinary system during childhood.|NCI|N|
C5708341|A neoplasm that affects the ovary during childhood.|NCI|N|
C5708343|A fibroma that arises from the ovary during childhood.|NCI|N|
C5708344|A sclerosing stromal tumor that arises from the ovary during childhood.|NCI|N|
C5708346|A molecular abnormality indicating rearrangement of the GLI2 gene.|NCI|N|
C5708347|An ovarian Sertoli-Leydig cell tumor that occurs during childhood.|NCI|N|
C5708350|A nucleotide substitution at position 402 of the coding sequence of the FOXL2 gene where cytosine has been mutated to guanine.|NCI|N|
C5708376|Ovarian Sertoli-Leydig cell tumor characterized by the presence of DICER1 gene mutation. It is associated with moderately and poorly differentiated histological features, presence of retiform or heterologous elements, and younger age.|NCI|N|
C5708377|Ovarian Sertoli-Leydig cell tumor characterized by mutation at position 402 of the coding sequence of the FOXL2 gene where cytosine has been replaced by guanine. It is associated with moderately and poorly differentiated histological features and absence of retiform or heterologous elements. It is described in postmenopausal patients.|NCI|N|
C5708379|Ovarian Sertoli-Leydig cell tumor characterized by the absence of DICER1 and FOXL2 gene mutations. It is associated with well-differentiated histological features, absence of retiform or heterologous elements, and intermediate age.|NCI|N|
C5708380|An ovarian gynandroblastoma that occurs during childhood.|NCI|N|
C5708381|A rare ovarian small cell carcinoma, hypercalcemic type that occurs during childhood.|NCI|N|
C5708383|A benign papillary neoplasm that arises from the cervix or vagina. It mostly occurs in prepubertal girls and rarely in adolescents or young adults. It is characterized by the presence of a fibrovascular core covered by cuboidal or columnar epithelial cells. Squamous metaplasia may be present. Cytologic atypia is absent.|NCI|N|
C5708384|Mullerian papilloma that occurs during childhood.|NCI|N|
C5708385|A neoplasm that affects the breast and occurs during childhood.|NCI|N|
C5708386|A fibroadenoma that arises from the breast and occurs during childhood.|NCI|N|
C5708387|A phyllodes tumor that arises from the breast and occurs during childhood.|NCI|N|
C5708392|A change in the nucleotide sequence of the MAP2K2 gene that results in constitutive activation of both dual specificity mitogen-activated protein kinase kinase 2 and its downstream signaling pathways.|NCI|N|
C5708647|A determination of additional abnormalities and/or other observations that may be associated with the disease of interest, for which a targeted test has not been identified in the data.|NCI|N|
C5708663|Segmental change in mesangial cells of the glomerular tuft with aggregation of lipid-laden foam cells. (INHAND)|NCI|N|
C5708668|A variation in the amino acid sequence for forkhead box protein L2.|NCI|N|
C5708669|A change in the amino acid residue at position 134 in forkhead box protein L2 where cysteine has been replaced by tryptophan.|NCI|N|
C5708676|A change in the amino acid residue at position 1831 in the endoribonuclease Dicer protein where tryptophan has been replaced by another amino acid.|NCI|N|
C5708679|A nucleotide substitution at position 5492 of the coding sequence of the DICER1 gene where guanine has been mutated to adenine.|NCI|N|
C5708680|A change in the amino acid composition of the endoribonuclease Dicer protein where a nonsense mutation results in the substitution of tryptophan at position 1831 has been replaced by a stop codon.|NCI|N|
C5708682|A nucleotide substitution at position 5114 of the coding sequence of the DICER1 gene where adenine has been mutated to thymine.|NCI|N|
C5708683|A nucleotide substitution at position 5437 of the coding sequence of the DICER1 gene where guanine has been mutated to adenine.|NCI|N|
C5708684|A change in the amino acid residue at position 1813 in the endoribonuclease Dicer protein where glutamic acid has been replaced by lysine.|NCI|N|
C5708685|A nucleotide substitution at position 5428 of the coding sequence of the DICER1 gene where guanine has been mutated to cytosine.|NCI|N|
C5708686|A change in the amino acid residue at position 1810 in the endoribonuclease Dicer protein where aspartic acid has been replaced by histidine.|NCI|N|
C5708743|A change in the amino acid residue at position 559 in the mast/stem cell growth factor receptor Kit protein where valine has been replaced by alanine.|NCI|N|
C5708744|A nucleotide substitution at position 1676 of the coding sequence of the KIT gene where thymine has been mutated to adenine.|NCI|N|
C5708746|Environmental, occupational, or consumer-based exposure to any smokeless tobacco product.|NCI|N|
C5708747|A nucleotide substitution at position 1354 of the coding sequence of the TEK gene where adenine has been mutated to guanine.|NCI|N|
C5708754|A change in the sequence of the NF1 gene that encodes a premature stop codon.|NCI|N|
C5708755|A nucleotide substitution at position 1014 of the coding sequence of the MUTYH gene where guanine has been mutated to cytosine.|NCI|N|
C5708764|An indication of a 400-fold reduction in measurable residual disease (MRD) correlated to the expression of clonal B-cell receptors (BCR) and T-cell receptors (TCR) in peripheral blood cell samples from subjects following treatment of a lymphoid malignancy as determined by the proprietary next generation sequencing-based clonoSEQ assay.|NCI|N|
C5708767|The reemergence of sclerodermatous graft versus host disease after a period of remission.|NCI|N|
C5708776|The spread of benign or malignant tissue that can occur naturally, during a medical or surgical procedure or mechanically.|NCI|N|
C5708777|Medulloblastoma, SHH-activated, characterized by SUFU gene mutations and chromosome 2 gain. It affects mostly infants.|NCI|N|
C5708778|A change in the nucleotide sequence of the U1 snRNA gene.|NCI|N|
C5708779|A change in the nucleotide sequence of the SUFU gene.|NCI|N|
C5708780|Medulloblastoma, SHH-activated, characterized by chromosome 9q loss and nodular morphology. It affects mostly infants.|NCI|N|
C5708781|Medulloblastoma, SHH-activated, characterized by mutations of TP53 and ELP1 genes. It affects older individuals.|NCI|N|
C5708782|Medulloblastoma, SHH-activated, characterized by mutations of U1-snRNA and TERT genes. Mutations of PTCH1 or SMO genes are usually also present. It affects mostly adults.|NCI|N|
C5708784|A non-neoplastic disorder that affects the anus and rectum.|NCI|N|
C5708799|A neoplasm that affects any part of the digestive system and occurs during childhood.|NCI|N|
C5708800|A malignant neoplasm that affects any part of the digestive system and occurs during childhood.|NCI|N|
C5708810|Tumor seeding that is localized under the retina.|NCI|N|
C5708811|The infiltration of tumor cells into the intraorbital portion of the optic nerve, posterior to the lamina cribrosa.|NCI|N|
C5708812|The spread or migration of cancer cells beyond the structures of the eye into surrounding or adjacent tissues.|NCI|N|
C5708823|A point mutation in the ERBB2 gene that encodes an amino acid substitution in the receptor tyrosine-protein kinase erbB-2 protein.|NCI|N|
C5708824|A molecular abnormality indicating rearrangement of the NRG1 gene.|NCI|N|
C5708831|A change in the nucleotide sequence of the HLA-A gene.|NCI|N|
C5708832|A change in the nucleotide sequence of the HLA-A*01:01 allele that causes defective splicing between exons 3 and 4.|NCI|N|
C5708834|A subtype of hepatoblastoma characterized by the presence of an epithelial component and absence of mesenchymal elements. It includes hepatoblastoma with pure fetal epithelial differentiation, hepatoblastoma with combined fetal and embryonal epithelial differentiation, macrotrabecular hepatoblastoma, and small cell undifferentiated hepatoblastoma (small cell undifferentiated hepatoblastoma with loss of INI1 nuclear staining should be classified as rhabdoid tumor).|NCI|N|
C5708835|Epithelial hepatoblastoma characterized by the presence of fetal or embryonal cells showing nuclear pleomorphism. Malignant giant cells may be present.|NCI|N|
C5708837|A mixed epithelial and mesenchymal hepatoblastoma characterized by the absence of heterologous elements, muscle, cartilage or osteoid.|NCI|N|
C5708840|A fusion protein expression that results from a deletion involving the short arm of chromosome 19 and is associated with fusion of the human genes DNAJB1 and PRKACA.|NCI|N|
C5708841|A fibrolamellar variant of hepatocellular carcinoma that occurs during childhood.|NCI|N|
C5708842|An embryonal sarcoma of the liver that occurs during adulthood.|NCI|N|
C5708845|Any change in the nucleotide sequence of a gene that results in the loss of transcription of one or more exons within a gene. Often downstream exons are still present in the transcript and translated into the product. Exon skipping is associated either with deletions that remove entire exons or with splice-site variations.|NCI|N|
C5708846|A finding indicating the loss of one copy of a gene or genetic/genomic segment in a sample.|NCI|N|
C5708856|Platinum-resistant ovarian carcinoma that has spread from its original site of growth to nearby tissues or lymph nodes.|NCI|N|
C5708860|A change in the sequence of a gene that results in increased sensitivity to targeted therapeutic agents.|NCI|N|
C5708861|A change in the sequence of a gene that confers resistance to targeted antineoplastic therapies.|NCI|N|
C5708862|Uterine corpus sarcoma that has spread from its original site of growth to another anatomic site.|NCI|N|
C5708863|Uterine corpus sarcoma that is not amenable to surgical resection.|NCI|N|
C5708864|A change in the sequence of the BTK gene that confers resistance to BTK inhibitory agents.|NCI|N|
C5708867|A tumor that arises in the sellar region and is characterized by the presence of mature ganglion cells and neuronal differentiation. It is often associated with the presence of pituitary neuroendocrine tumors/adenomas.|NCI|N|
C5708869|An asymptomatic benign or malignant lesion discovered during an endoscopic, surgical, or radiologic procedure performed for unrelated reasons.|NCI|N|
C5708870|An extremely rare, slow-growing well-differentiated neuroendocrine tumor affecting the prostate gland.|NCI|N|
C5708871|Problem associated with the unintended escape of a gas/air from the container in which it is housed. This also includes both external and internal air/gas leak.|NCI|N|
C5708872|Escape (Release, Discharge) of fluid (including blood or bodily fluid) through an unintended location; often accompanied by a loss of pressure and/or output. This includes both external and internal fluid leak. This does not include fluidized powder leak.|NCI|N|
C5708873|Problem associated with the use of the device in terms of inappropriate or incorrect control settings or incorrect treatment parameters for the device''s specified operation and/or intended use.|NCI|N|
C5708876|A myeloid or lymphoid cell neoplasm that occurs during childhood. Representative examples include acute leukemias and lymphomas.|NCI|N|
C5708878|An embryonal sarcoma of the liver that occurs during childhood.|NCI|N|
C5708879|Platinum-resistant ovarian carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5708894|A nucleotide substitution at position 926 of the coding sequence of the ERBB2 gene where guanine has been mutated to adenine.|NCI|N|
C5708895|A nucleotide substitution at position 2327 of the coding sequence of the ERBB2 gene where guanine has been mutated to thymine.|NCI|N|
C5708896|Parathyroid gland hyperplasia that results from progression of secondary hyperparathyroidism in which the parathyroid glands secrete parathyroid hormone autonomously, despite the presence of elevated parathyroid hormone and calcium levels in the serum.|NCI|N|
C5708897|The reemergence of a childhood Hodgkin or non-Hodgkin lymphoma after a period of remission.|NCI|N|
C5708899|Ovarian serous adenocarcinoma that has spread from its original site of growth to nearby tissues or lymph nodes.|NCI|N|
C5708900|One or more of the blood protein levels being higher or lower than normal (e.g. Albumin, C-reactive Protein).|NCI|N|
C5708904|Ovarian high-grade serous adenocarcinoma that has spread from its original site of growth to nearby tissues or lymph nodes and is not amenable to surgical resection.|NCI|N|
C5708905|A molecular abnormality indicating rearrangement of the GLIS3 gene.|NCI|N|
C5708906|Rapid progression of primary myelofibrosis, characterized by the presence of myeloblasts accounting for 10-19% of the peripheral blood white cells or the nucleated cells in the bone marrow.|NCI|N|
C5708907|A semi-quantitative microscopic finding indicating that less than or equal to 10 percent of the area of a tissue section has follicular structures.|NCI|N|
C5708921|A change in the amino acid residue at position 773 in the epidermal growth factor receptor protein where histidine has been replaced by leucine.|NCI|N|
C5708922|A change in the amino acid residue at position 646 in the histone-lysine N-methyltransferase EZH2 protein where tyrosine has been replaced by asparagine.|NCI|N|
C5708927|A chondromyxoid fibroma that occurs during childhood.|NCI|N|
C5708932|A soft tissue sarcoma that is confined to a specific site without evidence of spread to other anatomic sites.|NCI|N|
C5708943|A change in the amino acid residue at position 1705 in the endoribonuclease Dicer protein where glutamic acid has been replaced by valine.|NCI|N|
C5708944|A deletion or insertion mutation in the NF1 gene that shifts the reading frame for the transcript.|NCI|N|
C5708945|A cytogenetic abnormality that refers to the allelic gain of all or part of chromosome 2.|NCI|N|
C5761237|The subject''s stated highest body height in adulthood.|SNOMEDCT_US|N|
C5761250|The feelings experienced by a parent where the skills, knowledge and/or resources they perceive they have access to are less than those required to perform the role successfully.|SNOMEDCT_US|N|
C5761642|A rare otorhinolaryngological malformation with characteristics of varying degrees of malformation of the inner ear associated with severe to profound congenital sensorineural hearing loss in the absence of cochlear nerve anomalies (hypoplasia or aplasia). Categorization of the malformation is based on the morphology of the cochlea, modiolus, and lamina cribrosa, which can range from normal development of these structures (with the malformation being limited to other structures of the inner ear) to their complete absence.|SNOMEDCT_US|N|
C5761644|A rare congenital, tricuspid valve malformation with characteristics of tricuspid valve that overrides the ventricular septum and communicates with both ventricles, as part of the tension apparatus of the valve crosses the ventricular septal defect and is attached in the left ventricle. The anomaly occurs with other congenital heart defects (transposition of great vessels, left ventricle outflow tract obstruction, double outlet right ventricle, hypoplastic right ventricle), which determine the main clinical manifestation.|SNOMEDCT_US|N|
C5767640|A true combined periodontal and endodontic lesion forms when a periodontal lesion and an endodontic lesion develop independently, then these two separate lesions join at the root surface.|SNOMEDCT_US|N|
C5768011|A rare ophthalmic disorder characterized by visual abnormalities (such as myopia, strabismus or amblyopia) due to the presence of myelinated retinal nerve fibers, which appear as whitish patches with feathery edges at the level of the retinal nerve fiber layer and may be continuous or discontinuous with the optic nerve head. The defect can be unilateral or bilateral.|SNOMEDCT_US|N|
C5768012|A rare malignant primary thymic neoplasm originating from neuroendocrine cells presenting as a mass within the anterior mediastinum. Patients typically present with nonspecific symptoms, such as chest pain, cough, shortness of breath or in some cases superior vena cava syndrome. Patients could be asymptomatic during the early stages or present with multiple endocrine neoplasia type I. Ectopic production of ACTH and serotonin can lead to Cushing syndrome and carcinoid syndrome respectively.|SNOMEDCT_US|N|
C5768013|A rare epithelial tumor of pancreas characterized by a solid, nodular mass growing within dilated pancreatic ducts, histologically composed of nodules of back-to-back tubular glands forming large cribriform structures, with high-grade dysplasia and ductal differentiation. There is no overt production of mucin. About half of the tumors occur in the head of the pancreas, one third involve the gland diffusely. Patients present with nonspecific symptoms including abdominal pain, vomiting, weight loss, steatorrhea, and diabetes mellitus, while obstructive jaundice is uncommon. This tumor type accounts for less than 1% of exocrine neoplasms and 3% of intraductal neoplasms of the pancreas.|SNOMEDCT_US|N|
C5768133|A rare genetic developmental defect during embryogenesis malformation syndrome. The syndrome is characterized by severe postnatal growth retardation, craniofacial dysmorphism, which includes a progeroid facial appearance, brachycephaly with hypoplasia of the frontal and parietal tubers and a flat occipital area, narrow forehead, prominent glabella, small orbit, slight bilateral exophthalmos, straight nose, hypoplastic cheekbones, long philtrum and thin lips, skeletal abnormalities (i.e. micromelia, brachydactyly, and severe short stature with short limbs), normal intelligence, Pelger-Huët anomaly of leukocytes, loose skin with decreased tissue turgor, and bilateral optic atrophy with loss of color vision and visual acuity. Recurrent liver failure triggered by fever has been occasionally reported. Radiographs may evidence delayed bone age, late ossification and/or osteoporosis.|SNOMEDCT_US|N|
C5768373|A way of thinking or feeling about food and/or nutrition behaviour that impedes food and/or nutrition behaviour change.|SNOMEDCT_US|N|
C5768374|Belief, an acceptance that something exists or is true, about food and/or nutrition that impedes food and/or nutrition behavior change.|SNOMEDCT_US|N|
C5768375|The food and/or nutrition matter valued by the subject.|SNOMEDCT_US|N|
C5768815|A vegetarian diet that includes fish and seafood, egg, and mammalian milk-based food and excludes all other animal-based protein food and ingredients.|SNOMEDCT_US|N|
C5768816|A vegetarian diet that includes egg and excludes other animal-based food and ingredients.|SNOMEDCT_US|N|
C5769746|A carcinoma that involves the duodenum.|MONDO|N|
C5770139|The healthcare service or service line performing the procedure.|SNOMEDCT_US|N|
C5770154|The radiotherapy treatment needs to change based on significant disease progression e.g. discovery of new metastasis or reprioritization of care due to extenuating circumstances e.g. trauma, stroke.|SNOMEDCT_US|N|
C5770159|The radiotherapy treatment needs to change due to changes to the organ(s) at risk (surrounding tissue).|SNOMEDCT_US|N|
C5774175|Cardiac valvular dysplasia-1 (CVDP1) is characterized by congenital malformations of the pulmonic, tricuspid, and mitral valves. Structural cardiac defects, including atrial and ventricular septal defects, single left ventricle, and hypoplastic right ventricle have also been observed in affected individuals (Ta-Shma et al., 2017).
Genetic Heterogeneity of Cardiac Valvular Dysplasia
CVDP2 (620067) is caused by mutation in the ADAMTS19 gene (607513) on chromosome 5q23.|OMIM|N|
C5774176|Autosomal recessive pseudohypoaldosteronism type I, including PHA1B1, is characterized by renal salt wasting and high concentrations of sodium in sweat, stool, and saliva. The disorder involves multiple organ systems and is especially threatening in the neonatal period. Laboratory evaluation shows hyponatremia, hyperkalemia, and increased plasma renin activity with high serum aldosterone concentrations. Respiratory tract infections are common in affected children and may be mistaken for cystic fibrosis (CF; 219700). Aggressive salt replacement and control of hyperkalemia results in survival, and the disorder appears to become less severe with age (review by Scheinman et al., 1999).
A milder, autosomal dominant form of type I pseudohypoaldosteronism (PHA1A; 177735) is caused by mutations in the mineralocorticoid receptor gene (MCR, NR3C2; 600983).
Gitelman syndrome (263800), another example of primary renal tubular salt wasting, is due to mutation in the thiazide-sensitive sodium-chloride cotransporter (SLC12A3; 600968).
Hanukoglu and Hanukoglu (2016) provided a detailed review of the ENaC gene family, including structure, function, tissue distribution, and associated inherited diseases.|OMIM|N|
C5774177|X-linked epilepsy-1 with variable learning disabilities and behavior disorders (EPILX1) is an X-linked neurologic disorder characterized by the onset of complex partial seizures in the first or second decades. The seizures are often triggered by showering or water-related hygiene activities, consistent with reflex bathing epilepsy. Additional spontaneous seizures and secondary generalization may also occur. Most patients have associated developmental defects, including learning disabilities, behavioral problems, or autistic features. The pathophysiology of the reflex seizures is thought to be hyperexcitability of the cortical or subcortical neuronal areas that respond to physiologic stimulus in an exaggerated manner, possibly due to aberrant synaptic maturation (summary by Nguyen et al., 2015; Sirsi et al., 2017; Accogli et al., 2021).|OMIM|N|
C5774178|X-linked epilepsy-2 with or without impaired intellectual development and dysmorphic features (EPILX2) is a neurologic disorder characterized by the onset of seizures usually in the first years of life, although later onset may also occur. Most individuals also have developmental delay, speech delay, and intellectual disability or learning difficulties. Some patients have dysmorphic facial features or mild skeletal anomalies. The severity of the disorder and accompanying features are highly variable, even within the same family. In general, males are more severely affected than females, although there is evidence for incomplete penetrance in both sexes (Niturad et al., 2017).|OMIM|N|
C5774179|Hijazi-Reis syndrome (HIJRS) is an X-linked dominant disorder characterized by global developmental delay with hypotonia, motor delay, impaired intellectual development, and speech and language delay. Affected individuals also have dysmorphic facial features, gastrointestinal issues, and ocular anomalies. Rare patients have seizures (Hijazi et al., 2022).|OMIM|N|
C5774180|X-linked intellectual developmental disorder-110 (XLID110) is characterized by moderately to severely impaired intellectual development.|OMIM|N|
C5774181|Syndromic microphthalmia-16 (MCOPS16) is characterized by bilateral severe microphthalmia or anophthalmia with variable presence of midline defects, including cleft lip and palate, absence of frontal and/or sphenoidal sinuses, and absent pituitary gland. Some patients exhibit developmental delay and intellectual disability or autism (Voronina et al., 2004; Abouzeid et al., 2012; Chassaing et al., 2014; Brachet et al., 2019).
For discussion of the genetic heterogeneity of syndromic microphthalmia, see MCOPS1 (309800).|OMIM|N|
C5774182|Autosomal recessive spastic paraplegia-87 (SPG87) is a neurologic disorder characterized by the onset of lower limb spasticity in infancy or early childhood. Affected individuals have mildly delayed walking, spastic gait, and hyperreflexia; the upper limbs and bulbar regions are not affected. Some patients may also have mild intellectual disability or speech problems. Thus, SPG87 can manifest as either a pure or a complex disorder (Tabara et al., 2022).
For a discussion of genetic heterogeneity of autosomal recessive SPG, see SPG5A (270800).|OMIM|N|
C5774183|Developmental and epileptic encephalopathy-104 (DEE104) is an autosomal dominant disorder characterized by developmental delay in the first few months of life and drug-resistant focal and generalized tonic-clonic seizures (summary by Bott et al., 2021).
For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350.|OMIM|N|
C5774184|Neurodevelopmental disorder with epilepsy and brain atrophy (NEDEBA) is an autosomal recessive disorder characterized by early-onset progressive myoclonus epilepsy with ataxia (summary by Bott et al., 2021).|OMIM|N|
C5774185|Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy (NEDMLHB) is characterized by the onset of these features soon after birth or in early infancy. Affected individuals make almost no developmental progress, are unable to sit or walk, do not acquire speech, have poor visual fixation, and show poor overall growth associated with feeding problems. Some may have a progressive disease course, suggesting neurodegeneration. Additional more variable features include seizures, spasticity, and joint contractures. Brain imaging shows hypomyelination, thin corpus callosum, and cerebral and cerebellar atrophy (Wong et al., 2022).|OMIM|N|
C5774186|Tumor predisposition syndrome-2 (TPDS2) is an autosomal recessive cancer predisposition syndrome characterized by the onset of various types of tumors or malignancies in young adulthood. The most common clinical manifestations include acute myeloid leukemia (AML), myelodysplastic syndrome, colorectal adenomatous polyposis and carcinoma, and uveal melanoma, although other tumors and malignancies have been reported (summary by Palles et al., 2022).
For a discussion of genetic heterogeneity of TPDS, see TPDS1 (614327).|OMIM|N|
C5774187|Retinal macular dystrophy-4 (MCDR4) is characterized by late-onset macular degeneration, with multiple drusen-like deposits, macular geographic atrophy, and choroidal neovascularization. Patients also exhibit extensive retinal dysfunction with impaired rod function (Zhou et al., 2022).
For a general phenotypic description and discussion of genetic heterogeneity of retinal macular dystrophy, see MCDR1 (136550).|OMIM|N|
C5774188|Braddock-Carey syndrome (BRDCS) is characterized by Pierre-Robin sequence, persistent congenital thrombocytopenia, agenesis of the corpus callosum, severe developmental delay, microcephaly, high forehead, sparse curly hair, downslanting palpebral fissures, telecanthus, inverted U-shaped upper vermilion, enamel hypoplasia, large posteriorly rotated ears, clinodactyly, and camptodactyly (Braddock et al., 2016).
Genetic Heterogeneity of Braddock-Carey Syndrome
BRDCS2 (619981) is caused by mutation in the KIF15 gene (617569) on chromosome 3p21.|OMIM|N|
C5774189|Braddock-Carey syndrome-2 (BRDCS2) is characterized by congenital thrombocytopenia, microcephaly, and facial dysmorphisms including Pierre-Robin sequence (Sleiman et al., 2017).
For a general phenotypic description and discussion of genetic heterogeneity of Braddock-Carey syndrom, see BRCDS1 (619980).|OMIM|N|
C5774190|Developmental and epileptic encephalopathy-105 with hypopituitarism (DEE105) is an autosomal recessive disorder characterized by the onset of seizures and pituitary insufficiency in the first weeks or months of life. Affected individuals have profoundly impaired development with almost no acquisition of skills. They are hypotonic, unable to sit or speak, and have poor or absent visual fixation. Endocrine workup shows central pituitary dysfunction with low hormone levels. Brain imaging shows cerebral atrophy, thin corpus callosum, and small pituitary gland (Schanzer et al., 2021).
For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350.|OMIM|N|
C5774191|Glycosylphosphatidylinositol biosynthesis defect-25 (GPIBD25) is an autosomal recessive neurodevelopmental disorder characterized by global developmental delay, brain anomalies, hypotonia, and contractures (Salian et al., 2022).
For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (610293).|OMIM|N|
C5774192|Immunodeficiency-107 with susceptibility to invasive Staphylococcus aureus infection (IMD107) is an autosomal dominant immunologic disorder characterized most often by the development of invasive and severe life-threatening infections with S. aureus affecting the skin and/or lungs. There is incomplete penetrance (about 30%) and variable expressivity. In some patients with heterozygous OTULIN mutations, an infectious agent is not identified, suggesting that low-grade infectious or even noninfectious triggers may play a role in development of the disease. The levels and function of immune cells appear normal; the molecular defect resides in fibroblasts and possibly other nonhematopoietic barrier cells that show increased susceptibility to the detrimental effects of the S. aureus alpha-toxin (Spaan et al., 2022).|OMIM|N|
C5774193|Autosomal recessive intellectual developmental disorder-77 (MRT77) is a nonsyndromic neurodevelopmental disorder characterized by global developmental delay with variably impaired cognitive development apparent from infancy. Affected individuals usually have delayed walking, sometimes with an unsteady gait, and may have poor speech and communication. Brain imaging is normal, and there are no additional significant neurologic abnormalities (Khoshbakht et al., 2021).
Mutation in the CEP104 gene also causes a form of Joubert syndrome (JBTS25; 616781).|OMIM|N|
C5774194|Neurodevelopmental disorder with speech delay and variable ocular anomalies (NEDSOA) is an autosomal recessive disorder characterized by global developmental delay with impaired intellectual development and poor speech acquisition apparent from infancy. Most affected individuals have dysmorphic facial features with notable ocular anomalies, including exotropia, strabismus, hypo- or hypertropia, and refraction problems. Additional features may include febrile seizures, sensorineural hearing loss, and behavioral abnormalities. Brain imaging is usually normal, but abnormalities of the corpus callosum have been reported (Broly et al., 2022).|OMIM|N|
C5774195|Severe congenital liver disease (SCOLIV) is an autosomal recessive disorder characterized by the onset of progressive hepatic dysfunction usually in the first years of life. Affected individuals show feeding difficulties with failure to thrive and features such as jaundice, hepatomegaly, and abdominal distension. Laboratory workup is consistent with hepatic insufficiency and may also show coagulation defects, anemia, or metabolic disturbances. Cirrhosis and hypernodularity are commonly observed on liver biopsy. Many patients die of liver failure in early childhood (Moreno Traspas et al., 2022).|OMIM|N|
C5774196|Neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies (NEDITPO) is an autosomal recessive multiple congenital anomaly syndrome characterized by mild to moderate intellectual disability, dysmorphic facial features, intention tremor, dyspraxia, and vertical strabismus (Rahikkala et al., 2022).|OMIM|N|
C5774197|Neurodevelopmental disorder with spasticity, seizures, and brain abnormalities (NEDSSBA) is an autosomal recessive disorder characterized by global developmental delay apparent in infancy, axial hypotonia, peripheral spasticity, and early-onset seizures of various types and severity. Affected individuals have delayed walking or are unable to walk and show impaired intellectual development with poor or absent speech. Brain imaging may show developmental defects of the operculum, cerebellum, and corpus callosum. Death in early childhood may occur (Calame et al., 2021).|OMIM|N|
C5774198|Primordial dwarfism-immunodeficiency-lipodystrophy syndrome (PDIL) is characterized by pre- and postnatal growth restriction, with extreme microcephaly, short stature, and absence of subcutaneous fat. There is also significant hematologic/immune dysfunction, with hypo- or agammaglobulinemia, as well as lymphopenia, anemia, and thrombocytopenia, and most affected individuals succumb to infection in early childhood (Parry et al., 2020).|OMIM|N|
C5774199|Intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects (IDDMDS) is an autosomal recessive disorder characterized by global developmental delay apparent in infancy manifest as speech delay and late walking by a few years. Affected individuals have hypertonia or, more rarely, hypotonia; a notable common feature is facial myokymia with corresponding EMG findings. Additional features include distal skeletal defects such as joint contractures, hypo- or areflexia, and hernia (Marafi et al., 2022).|OMIM|N|
C5774200|Autosomal recessive keratoderma-ichthyosis-deafness syndrome (KDIDAR) is characterized by severe palmoplantar keratoderma, mild generalized ichthyosis, and progressive sensorineural deafness. Other variable features include contractures, mild bleeding diathesis, and psychomotor retardation (Gruber et al., 2017).|OMIM|N|
C5774201|Autosomal recessive distal hereditary motor neuronopathy-6 (HMNR6) is a neuromuscular disorder characterized by onset of distal muscle weakness in early infancy. Affected individuals often present at birth with distal joint contractures or foot deformities and show delayed motor development, often with inability to walk or frequent falls. Hypo- or hyperreflexia may be observed; limb muscle atrophy may also be present. Patients often show respiratory distress or diaphragmatic palsy. Electrophysiologic studies are consistent with a peripheral motor neuropathy without sensory involvement (Maroofian et al., 2019).
For a discussion of genetic heterogeneity of autosomal recessive distal HMN, see HMNR1 (604320).|OMIM|N|
C5774202|Developmental delay, hypotonia, and impaired language (DEDHIL) is a neurodevelopmental disorder characterized by variably impaired intellectual development usually with hypotonia, mild motor delay, and language difficulties. Affected individuals may also have nonspecific dysmorphic facial features, gastrointestinal problems, and abnormalities on brain imaging (Stephenson et al., 2022).|OMIM|N|
C5774203|Lymphatic malformation-12 (LMPHM12) is characterized by abnormalities in the development and function of major truncal lymphatic vessels, causing nonimmune hydrops fetalis that results in stillbirth in some cases. Other affected individuals experience postnatal subcutaneous lymphedema and chylothorax, with pleural and pericardial effusions and ascites (Byrne et al., 2022).
For a general phenotypic description and discussion of genetic heterogeneity of lymphatic malformation, see LMPHM1 (153100).|OMIM|N|
C5774204|Familial advanced sleep phase syndrome-4 (FASPS4) is an autosomal dominant condition in which individuals wake and sleep early (summary by Kurien et al., 2019).
For a discussion of genetic heterogeneity of advanced sleep phase syndrome, see FASPS1 (604348).|OMIM|N|
C5774205|Distal arthrogryposis type 11 (DA11) is an autosomal dominant disorder characterized mainly by camptodactyly. Other features include absent flexion creases and limited forearm supination (Zhou et al., 2019).|OMIM|N|
C5774206|Intellectual developmental disorder with autism and dysmorphic facies (IDDADF) is an autosomal recessive neurodevelopmental disorder characterized by moderate to severely impaired cognitive development associated with behavioral abnormalities, including autism spectrum disorder. Affected individuals have variable dysmorphic facial features (Al-Amri et al., 2022)|OMIM|N|
C5774207|Stickler syndrome type VI (STL6) is characterized by early-onset progressive hearing loss and progressive myopia, with variable manifestation of facial dysmorphism and skeletal anomalies (Nixon et al., 2019; Rad et al., 2022).
For a general phenotypic description and discussion of genetic heterogeneity of Stickler syndrome, see STL1 (108300).|OMIM|N|
C5774208|Neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures (NEDMIMS) is an autosomal recessive disorder characterized by severe global developmental delay apparent from infancy, impaired intellectual development, progressive microcephaly, and early-onset seizures that may be refractory to treatment. Affected individuals have poor overall growth and may have various movement abnormalities, including hypo- and hypertonia. Behavioral problems may also be observed (Klockner et al., 2022).|OMIM|N|
C5774209|Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities (NEDSMBA) is an autosomal recessive disorder characterized by a core phenotype of moderate to profound developmental delay, progressive microcephaly, epilepsy, and periventricular calcifications (summary by Rosenhahn et al., 2022).|OMIM|N|
C5774210|Diaphragmatic hernia-4 with cardiovascular defects (DIH4) is an autosomal recessive congenital anomaly syndrome characterized by the presence of diaphragmatic hernia or eventration apparent at birth. Affected infants have associated pulmonary hypoplasia and respiratory insufficiency resulting in death in infancy. Most also have variable cardiovascular defects, including aortopulmonary window or conotruncal anomalies. Dysmorphic facial features and mild distal limb anomalies are sometimes observed (Beecroft et al., 2021).
For a discussion of genetic heterogeneity of congenital diaphragmatic hernia (CDH), see DIH1 (142340).|OMIM|N|
C5774211|Neurodevelopmental disorder with microcephaly, short stature, and speech delay (NEDMISS) is an autosomal recessive disorder characterized by global developmental delay with severely impaired intellectual development usually accompanied by behavioral abnormalities. Other features may include hypotonia, abnormal gait, mild dysmorphism, and seizures (Rawlins et al., 2022).|OMIM|N|
C5774212|Developmental and epileptic encephalopathy-106 (DEE106) is an autosomal recessive disorder characterized by the onset of various types of frequent, often refractory, seizures within the first year of life. Affected individuals demonstrate profound global developmental delay with limited ability to move and severely impaired intellectual development with absent speech. Nonspecific brain abnormalities may be observed on MRI (Ni et al., 2021).
For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350.|OMIM|N|
C5774213|Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures (NEDHLSS) is characterized by global developmental delay apparent from infancy. Affected individuals show severe hypotonia with delayed walking or inability to walk, poor or absent speech, and impaired intellectual development with behavioral abnormalities. Most patients have early-onset seizures, mild skeletal defects that are usually distal, and nonspecific dysmorphic features. More severely affected individuals have additional congenital abnormalities; however, cardiac involvement is rare (summary by Rodan et al., 2021).|OMIM|N|
C5774214|Primary ciliary dyskinesia-48 without situs inversus (CILD48) is an autosomal recessive disorder characterized by recurrent upper and lower respiratory infections due to impaired ciliary movement and clearance. Affected individuals often develop chronic lung disease. Since the defect involves the radial spokes and central pairs of microtubules in motile cilia, situs abnormalities do not occur (summary by Cho et al., 2020).
For a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400).|OMIM|N|
C5774215|Developmental and epileptic encephalopathy-107 (DEE107) is a severe autosomal recessive neurologic disorder characterized by onset of seizures in the first months of life and severe global developmental delay, profound intellectual disability, progressive microcephaly, and hypotonia (Conroy et al., 2016).
For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350.|OMIM|N|
C5774216|Neurodevelopmental disorder with microcephaly, hypotonia, and absent language (NEDMHAL) is a severe autosomal recessive disorder characterized by the constellation of these features. Behavioral problems and hearing loss are also present (Ansar et al., 2020).|OMIM|N|
C5774217|Digenic dyskeratosis congenita (DKCD) is characterized clinically by a combination of mucocutaneous features including abnormal skin pigmentation, nail dystrophy, thin hair, and oral leukoplakia. Some patients may have evidence of bone marrow failure, manifest as immune defects such as recurrent infections or hypogammaglobulinemia. Telomeres are shortened in patient cells. Individuals with DKCD may show severe adverse reactions to treatment with 5-FU (Tummala et al., 2022).
For a discussion of genetic heterogeneity of dyskeratosis congenita, see DKCA1 (127550).|OMIM|N|
C5774218|Bone marrow failure and diabetes mellitus syndrome (BMFDMS) is an autosomal recessive disorder characterized by the onset of manifestations of bone marrow failure, such as anemia, thrombocytopenia, and dyserythropoiesis, in infancy or early childhood. White blood cell lineages may or may not be affected. Patients with BMFDMS also develop nonautoimmune insulin-dependent diabetes mellitus in the first or second decades, likely due to apoptosis of pancreatic beta cells. Many patients show pigmentary skin abnormalities and short stature. Bone marrow transplant is curative for the bone marrow failure, but does not have an effect on diabetes (Dos Santos et al., 2017).|OMIM|N|
C5774219|Intestinal dysmotility syndrome (IDMTS) is an autosomal recessive disorder characterized by impaired intestinal motility resulting in episodes of diarrhea and distention of intestinal loops. Intestinal and hepatic portal venous gas, similar to findings seen in necrotizing enterocolitis, may be present. Dysmorphic features and developmental delay may also be present (Park et al., 2021).|OMIM|N|
C5774220|Autosomal recessive primary microcephaly-29 (MCPH29) is characterized by small head circumference apparent at birth and associated with global developmental delay, impaired intellectual development, speech delay, and behavioral abnormalities. Affected individuals also have poor overall growth with short stature, mild dysmorphic facial features, and seizures (Khan et al., 2020).
For a discussion of genetic heterogeneity of primary microcephaly, see MCPH1 (251200).|OMIM|N|
C5774221|Nephrotic syndrome type 26 (NPHS26) is an autosomal recessive renal disorder characterized by onset of proteinuria in the first months or years of life. Other features may include edema and hypoalbuminemia. Renal biopsy shows focal segmental glomerulosclerosis (FSGS), diffuse mesangial sclerosis (DMS), abnormalities of the glomerular basement membrane, and effacement of podocyte foot processes. There is variability in disease progression and response to treatment: some patients respond to steroids, whereas others show steroid resistance and progression to end-stage renal disease (ESRD) (Braun et al., 2019; Taniguchi et al., 2021).
For a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome, see NPHS1 (256300).|OMIM|N|
C5774222|Autosomal dominant polycystic kidney disease (ADPKD) is generally a late-onset multisystem disorder characterized by bilateral kidney cysts, liver cysts, and an increased risk of intracranial aneurysms. Other manifestations include: cysts in the pancreas, seminal vesicles, and arachnoid membrane; dilatation of the aortic root and dissection of the thoracic aorta; mitral valve prolapse; and abdominal wall hernias. Kidney manifestations include early-onset hypertension, kidney pain, and kidney insufficiency. Approximately 50% of individuals with ADPKD have end-stage kidney disease (ESKD) by age 60 years. The prevalence of liver cysts increases with age and occasionally results in clinically significant severe polycystic liver disease (PLD), most often in females. Overall, the prevalence of intracranial aneurysms is fivefold higher than in the general population and further increased in those with a positive family history of aneurysms or subarachnoid hemorrhage. There is substantial variability in the severity of kidney disease and other extra-kidney manifestations.|GeneReviews|N|
C5774223|Developmental delay with short stature, dysmorphic facial features, and sparse hair-2 (DEDSSH2) is an autosomal recessive syndromic disorder characterized by the constellation of these features apparent from infancy. Affected individuals may have other abnormalities, including congenital cardiac defects and distal skeletal anomalies (Hawer et al., 2020).
For a discussion of genetic heterogeneity of DEDSSH2, see DEDSSH1 (616901).|OMIM|N|
C5774224|Developmental delay, behavioral abnormalities, and neuropsychiatric disorders (DEDBANP) is a neurodevelopmental disorder characterized by mild global developmental delay and normal or variably impaired intellectual development. Most individuals have behavioral or neuropsychiatric disorders, including autism spectrum disorder (ASD), attention deficit-hyperactivity disorder (ADHD), and executive functioning deficits. Additional features may include speech delay, dysmorphic features, hypotonia, sleep disturbances, and seizures (Vitobello et al., 2022).|OMIM|N|
C5774225|Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment (NEDMVIC) is an autosomal recessive disorder characterized by global developmental delay, impaired intellectual development, facial dysmorphism, and microcephaly (Ziegler et al., 2022).|OMIM|N|
C5774226|Cardiac valvular dysplasia-2 (CVDP2) is characterized primarily by congenital stenosis and insufficiency of the semilunar valves, although mild insufficiency of the atrioventricular valves has been observed as well. Other features include subaortic stenosis and dilation of the ascending aorta and/or pulmonary artery in some patients (Wunnemann et al., 2020; Massadeh et al., 2020).
For a discussion of genetic heterogeneity of CVDP, see CVDP1 (212093).|OMIM|N|
C5774227|Axonal Charcot-Marie-Tooth disease type 2II (CMT2II) is an autosomal dominant neurologic disorder characterized by a slowly progressive sensorimotor peripheral neuropathy affecting mainly the lower limbs, resulting in distal muscle weakness and atrophy and subsequent walking difficulties. Some patients may have upper limb involvement with atrophy of the intrinsic hand muscles. The age at onset is highly variable, ranging from infancy to adulthood. Electrophysiologic studies are usually consistent with an axonal process, although some may show intermediate or even demyelinating values (Park et al., 2020; Ando et al., 2022). One family with possible autosomal recessive inheritance has been reported (Bogdanova-Mihaylova et al., 2021).
For a discussion of genetic heterogeneity of axonal CMT, see CMT2A1 (118210).|OMIM|N|
C5774228|Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties (NEDSFF) is an autosomal recessive disorder characterized by distinct craniofacial features, multisystem dysfunction, profound neurodevelopmental delays, and neonatal death (Shankar et al., 2022).|OMIM|N|
C5774229|Birk-Aharoni syndrome (BKAH) is a severe neurodevelopmental disorder characterized developmental delay, impaired intellectual development, absent speech, spastic tetraplegia with central hypotonia, chorea, inability to walk, hearing loss, micropenis, undescended testes, and mildly elevated liver enzymes (Aharoni et al., 2022).|OMIM|N|
C5774230|Diamond-Blackfan anemia-21 (DBA21) is an autosomal recessive bone marrow failure syndrome that includes selective erythroid hypoplasia, anemia with transient thrombocytopenia, short stature, facial dysmorphism, limb abnormalities, cardiac defects, and intellectual disability (O'Donohue et al., 2022).
For a general phenotypic description and discussion of genetic heterogeneity of Diamond-Blackfan anemia, see DBA1 (105650).|OMIM|N|
C5774231|Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities (NEDDFSB) is a multisystemic developmental disorder characterized by feeding difficulties, poor overall growth, and global developmental delay with moderate to severely impaired intellectual development and poor or absent speech. Affected individuals have dysmorphic facial features and skeletal defects, mainly affecting the distal extremities. More variable additional findings include hypotonia, seizures, and ocular defects. Brain imaging tends to show structural defects of the corpus callosum and cerebellar hypoplasia (Duijkers et al., 2019).|OMIM|N|
C5774232|Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-Pelger-Huet anomaly (NEDFLPH) is an autosomal recessive disorder characterized by global developmental delay with severely impaired intellectual development. Affected individuals often have behavioral abnormalities and may have variable findings on brain imaging, such as thin corpus callosum. Laboratory studies show nuclear lobulation defects in a subset of neutrophils, indicating a pseudo-Pelger-Huet anomaly (see 169400) and suggesting defects in the integrity of the nuclear envelope, where TMEM147 localizes (Thomas et al., 2022).|OMIM|N|
C5774233|Bent bone dysplasia syndrome-2 (BBDS2) is characterized by defects in both the axial and appendicular skeleton, with radiographic findings of undermineralized bone and a distinct angulation of the mid femoral shaft. Extraskeletal features include facial dysmorphisms, abnormally formed ears with tags, widely spaced nipples, and atrial septal defects. Abnormalities of muscle function are suggested by the presence of elbow fusions, ulnar flexion contractions at the wrist, and bilateral talipes equinovarus, as well as failure to mount a respiratory effort at birth (Barad et al., 2020).
For a general phenotypic description and discussion of genetic heterogeneity of bent bone dysplasia syndrome, see BBDS1 (614592).|OMIM|N|
C5774234|Autosomal dominant distal hereditary motor neuronopathy-10 (HMND10) is a neurologic disorder of the peripheral nerves characterized clinically by length-dependent motor neuropathy primarily affecting the lower limbs. Affected individuals have onset of distal muscle weakness and atrophy in early childhood that results in walking difficulties and gait abnormalities. Some have pyramidal signs, including hyperreflexia, suggesting the involvement of upper motor neurons. Electrophysiologic studies are consistent with a neurogenic process. More variable features may include mild intellectual disability, minor gyration defects on brain imaging, foot deformities, and connective tissue defects (1 family) (Capuano et al., 2016; Iacomino et al., 2020).
For a discussion of genetic heterogeneity of autosomal dominant distal HMN, see HMND1 (182960).|OMIM|N|
C5774235|Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects (NEDCDS) is characterized by global developmental delay, severely impaired intellectual development with poor or absent speech, characteristic facial features, and variable skeletal abnormalities. Additional features include feeding difficulties, inability to walk or walking with an abnormal gait, and cerebellar or other abnormalities on brain imaging (Reichert et al., 2020).|OMIM|N|
C5774236|Spermatogenic failure-76 (SPGF76) is characterized by male infertility due to oligoasthenoteratozoospermia. Multiple morphologic abnormalities of the flagella (MMAF) have been observed, including short, absent, and irregular caliber flagella. Ultrastructural anomalies include disordered outer dense fibers and abnormal 9+2 microtubular structures (Cong et al., 2022).
For a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).|OMIM|N|
C5774237|Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation-2 (HUMOP2) is characterized by failure to thrive apparent in infancy despite adequate caloric intake. Affected individuals show normal thyroid function, hyperphagia, tachypnea, increased basal temperature, and increased sweating. Biochemical studies demonstrate increased mitochondrial oxygen consumption with inefficient production of ATP in the final steps of oxidative phosphorylation due to an uncoupling defect (Ganetzky et al., 2022).
Genetic Heterogeneity of Hypermetabolism due to Uncoupled Mitochondrial Oxidative Phosphorylation
See also HUMOP1 (238800).|OMIM|N|
C5774238|Intellectual developmental disorder with ocular anomalies and distinctive facial features (IDDOF) is characterized by global developmental delay, mildly impaired intellectual development, ophthalmologic anomalies, microcephaly or relative microcephaly, hearing loss, and characteristic facial features (Huang et al., 2022).|OMIM|N|
C5774240|Childhood-onset neurodegeneration with multisystem involvement due to mitochondrial dysfunction (CONDMIM) is an autosomal recessive syndromic disorder characterized primarily by neurologic deficits. Patients show global developmental delay and variably impaired intellectual development with speech delay apparent from infancy. Affected individuals have hypotonia, poor feeding, poor overall growth, and respiratory distress early in life. Other features include visual impairment due to optic atrophy, sensorineural hearing loss, and neuromuscular abnormalities. The severity is highly variable. The disorder is progressive; about half of patients show developmental regression with loss of previous skills. Features suggestive of a mitochondrial disorder include cataracts, cardiomyopathy, diabetes mellitus, combined oxidative phosphorylation deficiency, and increased lactate. Some patients develop seizures, some have dysmorphic facial features, and some have nonspecific abnormalities on brain imaging. Death in childhood may occur (Kaiyrzhanov et al., 2022).|OMIM|N|
C5774241|Neurodevelopmental disorder with eye movement abnormalities and ataxia (NEDEMA) is characterized by global developmental delay apparent from infancy. Affected individuals show delayed walking with an unsteady gait, variably impaired intellectual development, learning disabilities, and speech difficulties. Abnormal eye movements, which are often noted in early childhood, include opsoclonus, nystagmus, and strabismus. Some patients have seizures, which may be refractory (Lu et al., 2022).|OMIM|N|
C5774242|Developmental delay with variable intellectual disability and dysmorphic facies (DIDDF) is a clinically heterogeneous disorder characterized by neurologic deficits and characteristic dysmorphic facial features apparent from infancy or early childhood. Affected individuals usually show impaired intellectual development, speech delay, learning difficulties, and/or behavioral problems. Additional features may include hypotonia, hand or foot deformities, and palatal defects (Verberne et al., 2021; Verberne et al., 2022).|OMIM|N|
C5774243|Cleidocranial dysplasia-2 (CLCD2) is characterized by clavicular anomalies, ranging from unilateral 'clavicula bipartita' to bilateral clavicular aplasia, and dental anomalies, including delayed or absent eruption of deciduous teeth and supernumerary teeth. Skull abnormalities such as delayed closure of fontanels have been reported; other skeletal features include delayed bone age, short distal phalanges, and pseudoepiphyses of the metacarpals and/or metatarsals. Phenotypic variability, including intrafamilial, has been observed (Beyltjens et al., 2023).
For a general phenotypic description and a discussion of genetic heterogeneity of cleidocranial dysplasia, see CLCD1 (119600).|OMIM|N|
C5774244|Retinitis pigmentosa-95 (RP95) is characterized by pale optic discs, attenuation of retinal vessels, and atrophy of the retinal pigment epithelium with bone-spicule pigmentation. Patients experience night blindness, and visual fields are restricted to approximately 10 degrees, with visual acuity ranging from normal to hand movement only. Age at onset of symptoms varies from childhood to the fifth decade of life (Van de Sompele et al., 2019).
For a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000.|OMIM|N|
C5774245|Spermatogenic failure-77 (SPGF77) is characterized by male infertility due to extreme oligozoospermia or azoospermia. Nearly all spermatozoa present on semen analysis are morphologically abnormal, with amorphous, enlarged, and/or fragmented heads, and some are multiflagellated. Testicular tissue shows arrest at the round spermatid stage (Wyrwoll et al., 2022).
For a general phenotypic description and a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).|OMIM|N|
C5774246|Amelogenesis imperfecta type 1K (AI1K) is characterized by hypoplastic enamel of all teeth. In some individuals, the pulp chambers may be enlarged and some molars may exhibit taurodontism (summary by Kim et al., 2021).|OMIM|N|
C5774247|Autosomal dominant spastic paraplegia-88 (SPG88) is characterized by onset of symptoms in the first year of life. Affected individuals show delayed motor development with walking difficulties due to spasticity of the lower limbs. The disorder is slowly progressive, but variable in severity; some patients are unable to ambulate independently. Most patients have a pure form of the disorder, although rare patients have been reported to have additional features, including peripheral neuropathy, speech delay, ADHD, and nonspecific brain imaging abnormalities (Schob et al., 2021, Estiar et al., 2022, De Winter et al., 2022).
For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant spastic paraplegia, see SPG3A (182600).|OMIM|N|
C5774248|Orofaciodigital syndrome XIX (OFD19) is an autosomal recessive ciliopathy characterized by tongue nodules; dental anomalies including congenital absence or abnormal shape of incisors; narrow, high-arched or cleft palate; retrognathia; and digital anomalies. Some patients have notching of the upper or lower lip (Iturrate et al., 2022).|OMIM|N|
C5774249|Charcot-Marie-Tooth disease type 1J (CMT1J) is an autosomal dominant sensorimotor peripheral neuropathy characterized by distal muscle weakness and atrophy, as well as distal sensory impairment, predominantly affecting the lower limbs and resulting in gait abnormalities. The age at onset is highly variable, ranging from early childhood to mid-adulthood, and the disorder is progressive, although the severity is also variable. Additional features may include foot deformities, upper limb or hand involvement, and decreased or absent deep tendon reflexes. Electrophysiologic studies tend to show nerve conduction velocities in the demyelinating range, although some patients may have results in the intermediate range, likely reflecting secondary axonal degeneration (summary by Ronkko et al., 2020).
For a discussion of genetic heterogeneity of autosomal dominant Charcot-Marie-Tooth disease type 1, see CMT1B (118200).|OMIM|N|
C5774251|Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities (NEDGFC) is an autosomal recessive disorder characterized by these cardinal features apparent from infancy. There is phenotypic variability both in disease manifestations and severity. More severely affected individuals are unable to walk independently, are nonverbal, and may have other anomalies, including congenital heart defects, feeding difficulties, or skeletal defects, whereas others show mildly delayed motor and speech acquisition with mild or borderline intellectual disability (summary by von Elsner et al., 2022).|OMIM|N|
C5774252|Neurodevelopmental disorder with speech impairment and with or without seizures (NEDSIS) is a phenotypically heterogeneous neurologic disorder whose severity appears to depend on the functional effect of the CACNA1I mutation. Severely affected individuals present in infancy with profound global developmental delay, hypotonia, delayed or absent walking, absent speech, feeding difficulties, cortical visual impairment, and onset of hyperexcitability and seizures in the first months or years of life. They achieve little or no developmental progress and may be tube-fed. Mutations in these individuals occurred de novo. In contrast, a milder phenotype associated with an inherited mutation has been found in a family with mild to moderate cognitive impairment and mild speech delay, usually without seizures (El Ghaleb et al., 2021).|OMIM|N|
C5774253|Developmental and epileptic encephalopathy-108 (DEE108) is characterized by the onset of multiple types of seizures in the first 2 years of life. Affected individuals often have normal early development before the onset of seizures, after which they show developmental regression with loss of skills, particularly language; most are nonverbal or speak only a few words. Other features included mildly delayed walking, unsteady gait, hypotonia, and behavioral abnormalities, such as ADHD or autism (Spinelli et al., 2021).
For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350.|OMIM|N|
C5774254|Chronic liver disease, including alcoholic and nonalcoholic fatty liver disease, can progress to cirrhosis in some individuals. Patients with FLDP show protection against the progression to chronic liver disease from simple steatosis (summary by Abul-Husn et al., 2018).|OMIM|N|
C5774255|Autosomal recessive pseudohypoaldosteronism type IB2 (PHA1B2) is characterized by renal salt wasting and high concentrations of sodium in sweat, stool, and saliva. The disorder involves multiple organ systems and is especially threatening in the neonatal period. Laboratory evaluation shows hyponatremia, hyperkalemia, and increased plasma renin activity with high serum aldosterone concentrations. Respiratory tract infections are common in affected children and may be mistaken for cystic fibrosis (CF; 219700). Aggressive salt replacement and control of hyperkalemia results in survival, and the disorder appears to become less severe with age (review by Scheinman et al., 1999).|OMIM|N|
C5774256|Autosomal recessive pseudohypoaldosteronism type IB3 (PHA1B3) is characterized by renal salt wasting and high concentrations of sodium in sweat, stool, and saliva. The disorder involves multiple organ systems and is especially threatening in the neonatal period. Laboratory evaluation shows hyponatremia, hyperkalemia, and increased plasma renin activity with high serum aldosterone concentrations. Respiratory tract infections are common in affected children and may be mistaken for cystic fibrosis (CF; 219700). Aggressive salt replacement and control of hyperkalemia results in survival, and the disorder appears to become less severe with age (review by Scheinman et al., 1999).|OMIM|N|
C5774257|Autosomal recessive dyskeratosis congenita-8 (DKCB8) is characterized by progressive bone marrow failure affecting all lineages apparent from infancy or early childhood. More variable features may include poor growth, mild developmental delay, immunodeficiency, and gastrointestinal manifestations, such as esophageal stricture or inflammatory bowel disease. Some patients may have mucocutaneous features, including oral leukoplakia, nail dystrophy, or pigmentary skin abnormalities, although these features may be absent. Unlike patients with other forms of DKC, those with DKCB8 do not have shortened telomeres, although there is evidence of telomere instability. Hematopoietic stem cell transplant may be curative (Kermasson et al., 2022).
For a discussion of genetic heterogeneity of dyskeratosis congenita, see DKCA1 (127550).|OMIM|N|
C5774258|Mitochondrial complex I deficiency nuclear type 39 (MC1DN39) is an autosomal recessive nuclear disorder of mitochondrial respiratory chain complex I characterized by intrauterine growth retardation and anemia and postpartum hypertrophic cardiomyopathy, lactic acidosis, encephalopathy, and a severe complex I defect with a fatal outcome (Correia et al., 2021)|OMIM|N|
C5774259|Mitochondrial complex III deficiency nuclear type 11 (MC3DN11) is an autosomal recessive disorder characterized by recurrent episodes of severe lactic acidosis, hyperammonemia, hypoglycemia, and encephalopathy (Vidali et al., 2021)
For a discussion of genetic heterogeneity of mitochondrial complex III deficiency, see MC3DN1 (124000).|OMIM|N|
C5774260|Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis (MMCKR) is an autosomal recessive disorder of skeletal muscle characterized by the onset of muscle cramping and stiffness on exertion in infancy or early childhood, although later (even adult) onset has also been reported. The features remit with rest, but some individuals develop mild proximal or distal muscle weakness. Rare affected individuals may demonstrate cardiac involvement, including left ventricular dysfunction or rhythm abnormalities. Laboratory studies show increased baseline serum creatine kinase levels with episodic spikes that may coincide with rhabdomyolysis. EMG shows myopathic changes, and muscle biopsy shows nonspecific myopathic or degenerative features (Lopes Abath Neto et al., 2021; Salzer-Sheelo et al., 2022).|OMIM|N|
C5774261|Combined oxidative phosphorylation deficiency-56 (COXPD56) is an autosomal recessive disorder characterized by lethargy at birth, hypotonia, developmental delay, myopathy, and ptosis (Thompson et al., 2022).
For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060).|OMIM|N|
C5774262|Developmental delay, language impairment, and ocular abnormalities (DEVLO) is characterized by delayed acquisition of skills particularly affecting speech and language development, although many patients show mild motor delay. Most affected individuals also have a small head circumference (down to -3 SD) and may have mild dysmorphic features. Variable ocular anomalies include strabismus, cataracts, and cortical visual impairment. Older patients require special schooling and often demonstrate behavioral abnormalities (Laboy Cintron et al., 2022).|OMIM|N|
C5774263|Developmental and epileptic encephalopathy-109 (DEE109) is characterized by the onset of various types of seizures in the first months or years of life. Affected individuals show developmental delay before and concurrent with the onset of seizures. Features include impaired intellectual development with poor speech, ataxic gait, coordination problems, and behavioral abnormalities (Manivannan et al., 2022).
For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350.|OMIM|N|
C5774264|Annular epidermolytic ichthyosis-2 (AEI2) is characterized by erythema and blistering of skin at birth that improves without scarring, as well as palmoplantar keratoderma. Some patients experience intermittent severe flares of generalized annular and polycyclic erythematous scaling plaques (Sybert et al., 1999; Zaki et al., 2018).
For a discussion of genetic heterogeneity of AEI, see AEI1 (607602).|OMIM|N|
C5774265|Developmental and epileptic encephalopathy-110 (DEE110) is an autosomal recessive disorder characterized by profound global developmental delay and hypotonia apparent in infancy followed by onset of seizures in the first months or years of life. Affected individuals achieve almost no developmental milestones and show impaired intellectual development, poor or absent speech, inability to walk or grasp objects, peripheral spasticity, and poor eye contact. Brain imaging shows hypoplastic corpus callosum and cortical atrophy (Dahimene et al., 2022).
For a discussion of genetic heterogeneity of DEE, see 308350.|OMIM|N|
C5774266|Renal hypomagnesemia-7 with or without dilated cardiomyopathy (HOMG7) is characterized primarily by renal salt wasting resulting in hypomagnesemia with secondary effects such as hypokalemia or hypocalcemia. Many patients develop nephrocalcinosis, although renal function is generally well-preserved. The age at onset is highly variable, ranging from infancy to young adulthood. A subset of patients develop severe dilated cardiomyopathy as early as in infancy, which may require heart transplant (Schlingmann et al., 2021).
For a discussion of genetic heterogeneity of hypomagnesemia, see 602014.|OMIM|N|
C5774267|Mosaic variegated aneuploidy syndrome-4 (MVA4) is an autosomal recessive disorder resulting from errors in chromosome segregation. In addition to mosaic aneuploidy, patients have microcephaly, mild developmental delay, and mild maculopathy (de Wolf et al., 2021).|OMIM|N|
C5774268|Oocyte/zygote/embryo maturation arrest-13 (OZEMA13) is characterized by female infertility due to recurrent preimplantation embryonic arrest (Zheng et al., 2022).
For a discussion of genetic heterogeneity of OZEMA, see 615774.|OMIM|N|
C5774269|Rabin-Pappas syndrome (RAPAS) is a multisystemic disorder characterized by severely impaired global development apparent from infancy, feeding difficulties with failure to thrive, small head circumference, and dysmorphic facial features. Affected individuals have impaired intellectual development and hypotonia; they do not achieve walking or meaningful speech. Other neurologic findings may include seizures, hearing loss, ophthalmologic defects, and brain imaging abnormalities. There is variable involvement of other organ systems, including skeletal, genitourinary, cardiac, and possibly endocrine (Rabin et al., 2020).|OMIM|N|
C5774270|Complex cortical dysplasia with other brain malformations-11 (CDCBM11) is an autosomal recessive disorder characterized by dilated ventricles and reduced white matter and associated with axonal developmental defects (Qian et al., 2022).
For a discussion of genetic heterogeneity of CDCBM, see CDCBM1 (614039).|OMIM|N|
C5774271|Autosomal dominant intellectual developmental disorder-70 (MRD70) is characterized by mild global developmental delay, moderately impaired intellectual disability with speech difficulties, and behavioral abnormalities. More variable findings may include hypotonia and dysmorphic features (Rabin et al., 2020)|OMIM|N|
C5774272|Spinocerebellar ataxia-50 (SCA50) is an autosomal dominant neurologic disorder characterized by cerebellar ataxia, oculomotor apraxia and other eye movement abnormalities, and cerebellar atrophy on brain imaging. Most patients develop symptoms as adults, although childhood onset has rarely been reported. Additional more variable features may include tremor, dysarthria, dysphagia, and cognitive impairment with executive dysfunction (Coutelier et al., 2022; Schoggl et al., 2022).|OMIM|N|
C5774273|Congenital myopathy-15 (CMYP15) is a skeletal muscle disorder characterized by symptom onset soon after birth. Affected infants are hypotonic and have severe respiratory insufficiency and feeding problems, sometimes requiring mechanical ventilation or tube feeding. The disorder is unique in that there is gradual improvement of the severe muscle weakness with time, although forced vital capacity remains decreased. Additional features include facial weakness, scoliosis, joint contractures, and persistent ptosis or external ophthalmoplegia (van de Locht et al., 2021).
For a discussion of genetic heterogeneity of congenital myopathy, see CMYP1A (117000).|OMIM|N|
C5774274|Congenital muscular dystrophy with or without seizures (MYOS) is an autosomal recessive disorder characterized by severe muscle hypotonia apparent from birth, as well as developmental delay. Laboratory studies show increased serum creatine kinase and muscle biopsy shows nonspecific dystrophic features. Most patients develop seizures or have abnormal epileptiform findings on EEG studies; other variable findings may include feeding difficulties, nystagmus, myopathic facies, areflexia, and brain atrophy on MRI (summary by Larson et al., 2018 and Henige et al., 2021).|OMIM|N|
C5774275|Combined oxidative phosphorylation deficiency-57 (COXPD57) is an autosomal recessive multisystem mitochondrial disease with varying degrees of severity from premature death in infancy to permanent disability in young adulthood (Lee et al., 2022).
For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060).|OMIM|N|
C5774276|Spermatogenic failure-78 (SPGF78) is characterized by male infertility resulting from an abnormal acrosome structure due to a manchette assembly defect (Dai et al., 2022).
For a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).|OMIM|N|
C5774277|Selective tooth agenesis-10 (STHAG10) is characterized by agenesis of multiple teeth of the permanent dentition. Cone-shaped teeth and taurodontism have also been observed (Du et al., 2018; Bowles et al., 2021).
For a general phenotypic description and a discussion of genetic heterogeneity of selective tooth agenesis, see STHAG1 (106600).|OMIM|N|
C5774278|Late-onset spinocerebellar ataxia-27B (SCA27B) is an autosomal dominant neurodegenerative disorder characterized by the onset of gait and appendicular ataxia in adulthood, usually around age 55 (range 30 to late eighties). About half of patients present with episodic features. The disorder is slowly progressive, and some patients may lose independent ambulation. Additional features include downbeat and horizontal nystagmus, diplopia, vertigo, and dysarthria. Brain imaging tends to show cerebellar atrophy (Pellerin et al., 2023).
For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (164400).|OMIM|N|
C5774279|Hypotrichosis-15 (HYP15) is characterized by sparse or absent hair on the scalp and/or body, and eyebrows and eyelashes may be sparse or absent as well (Malki et al., 2020; Shah et al., 2021).
For a general phenotypic description and discussion of genetic heterogeneity of hypotrichosis, see HYPT1 (605389).|OMIM|N|
C5774280|Autosomal recessive primary microcephaly-30 (MCPH30) is characterized by small head circumference, poor overall growth, and global developmental delay with variably impaired intellectual development. Affected individuals have been reported to have variable additional congenital anomalies, including atrial septal defect, dysmorphic facial features, tracheal stenosis, and anomalies of the skin and teeth (Carvalhal et al., 2022).
For a general phenotypic description and a discussion of genetic heterogeneity of primary microcephaly, see MCPH1 (251200).|OMIM|N|
C5774281|Atelis syndrome-1 (ATELS1) is an autosomal recessive neurodevelopmental disorder characterized by global developmental delay with learning difficulties and poor overall growth with short stature and microcephaly. Most patients have anemia, some have immunologic defects, and some have congenital heart septal defects. More variable features may include hypotonia, dysmorphic facial features, skin pigmentary anomalies, and mild skeletal defects. Patient cells show multiple chromosomal abnormalities due to impaired DNA replication and disrupted mitosis (Grange et al., 2022).
See also ATELS2 (620185), caused by mutation in the SMC5 gene (609386) on chromosome 9q21.
For a discussion of genetic heterogeneity of MVA, see MVA1 (257300).|OMIM|N|
C5774282|Atelis syndrome-2 (ATELS2) is an autosomal recessive disorder characterized by poor overall growth with microcephaly and short stature, dysmorphic facial features, and congenital cardiac defects. Additional more variable features may include hematologic abnormalities, variable ocular abnormalities, motor delay, and anxiety. Patient cells exhibit a unique chromosomal instability phenotype consisting of segmented and dicentric chromosomes with mosaic variegated hyperploidy (Grange et al., 2022).
See also ATELS1 (620184), caused by mutation in the SLF2 gene (610348).
For a discussion of genetic heterogeneity of MVA, see MVA1 (257300).|OMIM|N|
C5774283|Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome (BCAHH) is an autosomal dominant disorder characterized by choanal atresia, athelia or hypoplastic nipples, branchial sinus abnormalities, neck pits, lacrimal duct anomalies, hearing loss, external ear malformations, and thyroid abnormalities. Additional features may include developmental delay, impaired intellectual development, and growth failure/retardation (summary by Cuvertino et al., 2020 and Baldridge et al., 2020).|OMIM|N|
C5774284|Mosaic variegated aneuploidy syndrome-7 with inflammation and tumor predisposition (MVA7) is an autosomal recessive disorder characterized by increased susceptibility to benign and malignant neoplasms beginning in early childhood. Affected individuals show dysmorphic facies and may have early developmental delay. Patient cells show a high level of aneuploidy due to defects in cell division (Villarroya-Beltri et al., 2022).
For a discussion of genetic heterogeneity of MVA, see MVA1 (257300).|OMIM|N|
C5774285|Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities (NEDHFS) is an autosomal recessive disorder characterized by severe global developmental delay with impaired intellectual development and poor or absent speech. Affected individuals have dysmorphic facies, including large abnormally shaped ears and strabismus, hypotonia, and dry skin with keratosis pilaris. Some patients develop seizures. Metabolic studies are unremarkable (Morava et al., 2021).|OMIM|N|
C5774286|Lacrimoauriculodentodigital syndrome-2 (LADD2) is a multiple congenital anomaly disorder mainly affecting lacrimal glands and ducts, salivary glands and ducts, ears, teeth, and distal limb segments (summary by Rohmann et al., 2006).|OMIM|N|
C5774287|Lacrimoauriculodentodigital syndrome-3 (LADD3) is a multiple congenital anomaly disorder characterized by aplasia, atresia or hypoplasia of the lacrimal and salivary systems, cup-shaped ears, hearing loss, and dental and digital anomalies (summary by Milunsky et al., 2006).|OMIM|N|
C5774288|Neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies (NEDGEF) is an autosomal recessive disorder characterized by these features as well as hypotonia and global developmental delay with impaired intellectual development. The severity is variable, even within families. Death in early childhood has been reported in 1 family (Alsaif et al., 2021).|OMIM|N|
C5774289|Obesity and hypopigmentation (OBHP) is characterized by early-onset severe obesity and hypopigmentation of the skin. Some affected individuals have red hair, and some experience increased appetite and exhibit reduced energy expenditure (Kempf et al., 2022).|OMIM|N|
C5774290|Spermatogenic failure-79 (SPGF79) is characterized by male infertility due to an abnormal acrosome reaction and impaired membrane potential after capacitation. Some patients exhibit asthenoteratozoospermia, with defective acrosome formation and mitochondrial sheath assembly, and reduced progressive motility (Lv et al., 2022; Liu et al., 2022).
For a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).|OMIM|N|
C5774291|Primary ciliary dyskinesia-49 (CILD49) without situs inversus is an autosomal recessive disorder characterized by the onset of recurrent respiratory infections, chronic cough, and bronchiectasis in early childhood due to defective ciliary clearance. Affected males also show infertility due to defective flagellar morphology and function. Nasal nitric oxide (NO) levels are normal and situs abnormalities are not observed (Sha et al., 2020; Biebach et al., 2022).
For a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400).|OMIM|N|
C5774292|Abnormal thyroid hormone metabolism-3 (THMA3) is characterized by euthyroid hyperthyroxinemia, with elevated free T4 and reverse T3 levels, and normal TSH (see 188540) and free T3 levels. Patients also show low plasma selenium levels and reduced levels of stress-related selenoproteins (Schoenmakers et al., 2016; Geslot et al., 2021).
For a discussion of genetic heterogeneity of abnormal thyroid hormone metabolism, see THMA1 (609698).|OMIM|N|
C5774293|Inflammatory poikiloderma with hair abnormalities and acral keratoses (IPHAK) is characterized by mottled hyper- and hypopigmentation of the skin as well as sparse scalp hair and eyelashes, sparse or absent eyebrows, and palmoplantar keratoses (Han et al., 2022).|OMIM|N|
C5774294|Congenital disorder of glycosylation type IIy (CDG2Y) is an autosomal recessive multisystemic congenital disorder characterized by poor overall growth and global developmental delay with impaired intellectual development. Other features may include hypotonia, seizures, brain imaging abnormalities, dysmorphic features, and various skeletal defects. Laboratory studies show a subtle type II glycosylation defect of serum transferrin (Tambe et al., 2020).
For a general discussion of CDGs, see CDG1A (212065).|OMIM|N|
C5774295|Congenital disorder of glycosylation type IIz (CDG2Z) is an autosomal recessive disorder characterized by poor overall growth, severe global developmental delay, seizures, contractures, hypotonia, spasticity, and brain imaging abnormalities. Serum transferrin shows a type 2 pattern of glycosylation abnormalities with a combined N- and O-glycosylation defect (Wilson et al., 2022).
For a general discussion of CDGs, see CDG1A (212065).|OMIM|N|
C5774296|CMD2H is an autosomal recessive disorder characterized by rapidly progressive dilated cardiomyopathy and death in early infancy (Verhagen et al., 2019).
For a general phenotypic description and a discussion of genetic heterogeneity of dilated cardiomyopathy, see 115200.|OMIM|N|
C5774297|Autosomal recessive spinocerebellar ataxia-33 (SCAR33) is a neurologic disorder characterized by delayed motor development apparent in infancy, unsteady ataxic gait, intention tremor, nystagmus, and speech delay with dysarthria. Some patients have seizures and/or learning difficulties. Brain imaging shows cerebellar hypoplasia (Elsaid et al., 2017).|OMIM|N|
C5774298|Neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia (NEDFIH) is an autosomal recessive disorder characterized by these features and moderate to severe global developmental delay. Affected individuals show episodic regression during periods of stress, including seizures or infection, the latter of which may be associated with lymphopenia. Brain imaging shows diminished white matter volume, enlarged ventricles, and thin corpus callosum (Muffels et al., 2023).|OMIM|N|
C5774299|Familial hyperinsulinemic hypoglycemia-8 (HHF8) is an autosomal recessive disorder characterized by protein-related hypoglycemia and persistent mild hyperammonemia (summary by Shahroor et al., 2022).
For a phenotypic description and a discussion of genetic heterogeneity of familial hyperinsulinemic hypoglycemia, see HHF1 (256450).|OMIM|N|
C5774300|Autosomal dominant spastic paraplegia-79A with ataxia (SPG79A) is a slowly progressive neurodegenerative disorder characterized predominantly by cerebellar and/or sensory ataxia and spasticity of the lower limbs leading to gait difficulties. The onset is usually in adulthood (median age of 49 years), but can range from childhood to age 70. Additional common features include sensorimotor neuropathy and visual impairment with optic atrophy. The disorder is slowly progressive (Park et al., 2022).|OMIM|N|
C5774301|Spermatogenic failure-80 (SPGF80) is characterized by male infertility due to multiple morphologic abnormalities of the flagella (MMAF), including short, coiled, absent, and irregular-caliber flagella, with correspondingly reduced or absent progressive motility of sperm. Abnormalities of the sperm head have also been observed. Severe axonemal disorganization is evident on transmission electron microscopy (Zhang et al., 2021).
For a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).|OMIM|N|
C5774302|Autosomal dominant deafness-85 (DFNA85) is characterized by nonsyndromic progressive sensorineural hearing loss, with onset in childhood or young adulthood (Bassani et al., 2021).|OMIM|N|
C5774303|Retinitis pigmentosa-96 (RP96) is characterized by difficulty with night vision and progressive visual field constriction beginning as early as the third decade of life, but most patients retain good visual acuity into the seventh decade. Funduscopy shows the typical features of RP, including bone-spicule pigmentation, attenuation of retinal vasculature, optic disc pallor, and cystic macular edema. Unlike patients with biallelic mutations in the SAG gene, they do not show the golden sheen of the fundus that is typical of Oguchi disease (Sullivan et al., 2017).
For a general phenotypic description and discussion of genetic heterogeneity of retinitis pigmentosa, see 268000.|OMIM|N|
C5774304|Short QT syndrome-7 (SQT7) is characterized by a corrected QT interval of 370 ms or less and a J-point to T-peak less than 140 ms. Affected individuals may experience cardiac arrest and/or ventricular fibrillation at rest, and sudden death may occur. Affected children and most females are asymptomatic (Thorsen et al., 2017).
For a general phenotypic description and discussion of genetic heterogeneity of short QT syndrome, see SQT1 (609620).|OMIM|N|
C5774305|Joint contractures, osteochondromas, and B-cell lymphoma (JCOSL) is an autosomal recessive systemic disorder characterized by the development of painless fixed contractures of the joints in early childhood. There is evidence of abnormal chondrocyte homeostasis, resulting in contractures, osteopenia, and the development of osteochondromas. Laboratory studies show abnormal levels and function of B- and T-cell subsets, and patients can develop B-cell lymphomas or malignancies. Despite the abnormalities in immunologic cells, immunodeficiency is not a feature of the disease, suggesting that it can be classified as a 'primary immune regulatory disorder' (Sharma et al., 2022).|OMIM|N|
C5774306|Recurrent respiratory infections and failure to thrive with or without diarrhea (RIFTD) is characterized by neonatal onset of chronic cough, episodic wheezing, recurrent lower respiratory tract infections, chronic diarrhea, and failure to thrive. Despite the resemblance to cystic fibrosis (CF; 219700), these patients have normal sweat chloride and pancreatic elastase tests (Bertoli-Avella et al., 2022).|OMIM|N|
C5774307|Susceptibility to rhabdomyolysis-1 (RHABDO1) is an autosomal recessive disorder characterized by recurrent episodes of rhabdomyolysis beginning in the teenage years. Some of the episodes may be triggered by exercise or heat; others occur spontaneously. Severe cases may result in acute renal failure or compartment syndrome. Affected individuals tend to have myalgia or muscle weakness in childhood and between episodes. Laboratory studies show increased serum creatine kinase and nonspecific myopathic features on skeletal muscle biopsy (Cabrera-Serrano et al., 2022).|OMIM|N|
C5774308|Hypertrophic cardiomyopathy-29 (CMH29) is characterized by recurrent syncope, dyspnea on exertion, and palpitations. The clinical phenotype is associated with a poor prognosis due to lethal arrhythmias and cardiac failure. Cardiac muscle biopsies show intermyofibrillar accumulation of glycogen and polyglucosan bodies within cardiomyocytes, and skeletal muscle accumulation of glycogen has also been observed (Hedberg-Oldfors et al., 2019).
For a general phenotypic description and discussion of genetic heterogeneity of hypertrophic cardiomyopathy, see CMH1 (192600).|OMIM|N|
C5774309|Autosomal recessive deafness-120 (DFNB120) is characterized by congenital or prelingual onset of severe to profound sensorineural hearing loss (Bademci et al., 2022).|OMIM|N|
C5774310|Tessadori-Bicknell-van Haaften neurodevelopmental syndrome-3 (TEBIVANED3) is characterized by global developmental delay with poor overall growth, impaired intellectual development, and speech difficulties. More variable features include hypotonia, microcephaly, and dysmorphic facies. The severity and manifestations of the disorder are highly variable (Tessadori et al., 2022).
For a discussion of genetic heterogeneity of Tessadori-Bicknell-van Haaften neurodevelopmental disorder, see TEBIVANED1 (619758).|OMIM|N|
C5774311|Progressive familial intrahepatic cholestasis-12 (PFIC12) is characterized by neonatal-onset jaundice and conjugated hyperbilirubinemia, associated with intense pruritus. Transaminases are mildly elevated but GGT (see 612346) is normal. Hepatosplenomegaly and mildly prolonged activated partial thromboplastin time (APTT) have been observed in some patients (Qiu et al., 2019).|OMIM|N|
C5774318|Apolipoprotein (apo) A-I is the major protein of HDL cholesterol, whereas apoC-III and apoA-IV are minor components. The genes coding for apoA-I, apoC-III, and apoA-IV are adjacent to one another on the long arm of chromosome 11. Familial apolipoprotein gene cluster deletion syndrome has been described in 1 family and found to be a homozygous deletion of the entire APOA1/C3/A4 gene complex. This results in a lack of expression of these plasma lipoproteins, with marked HDL-C deficiency in the homozygote and approximately half-normal levels of these apolipoproteins and HDL-C in the heterozygotes.|OMIM|N|
C5774323|Lacrimoauriculodentodigital syndrome-1 (LADD1) is a multiple congenital anomaly disorder mainly affecting lacrimal glands and ducts, salivary glands and ducts, ears, teeth, and distal limb segments (summary by Rohmann et al., 2006).
Genetic Heterogeneity of Lacrimoauriculodentodigital Syndrome
LADD syndrome-2 (LADD2; 620192) is caused by mutation in the FGFR3 gene (134934) on chromosome 4p16, and LADD syndrome-3 (LADD3; 620193) is caused by mutation in the FGF10 gene, an FGFR ligand, on chromosome 5p12.|OMIM|N|
C5775214|Any abnormality of eye contact behavior. We define eye contact as a form of nonverbal communication between two individuals who are facing each other in which an individual directs the eyes towards the eyes or face of the other individual. Eye contact occurs frequently and voluntarily during face-to-face verbal communication. The duration and frequency of eye contact that is interpreted to be appropriate may follow social and situational norms.|HPO|N|
C5779506|A developmental defect resulting in the presence of fewer than the normal number of fingers (i.e., aplasia of one or more fingers).|HPO|N|
C5779508|A rare purine metabolism disorder due to inherited deficiency of the xanthine dehydrogenase/oxidase enzyme and is characterized by very low (or undetectable) concentrations of uric acid in blood and urine and very high concentration of xanthine in urine, leading to urolithiasis.|ORDO|N|
C5779517|Increased chance of taking one''s life intentionally|CCC|N|
C5779537|Stage I includes: T1a, N0, M0. T1a: Tumor invades subepithelial connective tissue without lymph vascular invasion and is not poorly differentiated (i.e., grade 3-4). cN0: No palpable or visibly enlarged inguinal lymph nodes. pN0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C5779538|Stage II includes: (T1b, N0, M0); (T2, N0, M0); (T3, N0, M0). T1b: Tumor invades subepithelial connective tissue with lymph vascular invasion or is poorly differentiated. T2: Tumor invades corpus spongiosum or cavernosum. T3: Tumor invades urethra. cN0: No palpable or visibly enlarged inguinal lymph nodes. pN0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 7th ed.)|NCI|N|
C5779539|Stage I includes: T1, N0, M0, G1. T1: Tumor invades subepithelial connective tissue. N0: No regional metastasis. M0: No distant metastasis. G1: Well differentiated (slight anaplasia) (Gleason 2-4). (AJCC 6th ed.)|NCI|N|
C5779540|Stage III includes: T3, N0, M0, Any G. T3: Tumor extends through the prostatic capsule. T3a: Extracapsular extension (unilateral or bilateral). T3b: Tumor invades seminal vesicle(s). N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th ed.)|NCI|N|
C5779541|Stage IV includes: (T4, N0, M0); (Any T, N1, M0); (Any T, Any N, M1) (Any G). T4: Tumor is fixed or invades adjacent structures other than seminal vesicles: bladder neck, external sphincter, rectum, levator muscles, and/or pelvic wall. N1: Metastasis in regional lymph node(s). M1: Distant metastasis. (AJCC 6th ed.)|NCI|N|
C5779547|A rare disorder of the anterior segment of the eye caused by <i>Neisseria gonorrhoeae</i>, characterized by a severe mucopurulent conjunctivitis associated with lid edema, often also with localized lymphadenopathy. It may be complicated by uveitis or keratitis which can eventually lead to corneal perforation. The disease most often occurs in teenagers and young adults with a male predominance, while infections are much less common in newborns, where they are typically bilateral.|ORDO|N|
C5779548|Autosomal dominant form of nonsyndromic deafness.|MONDO|N|
C5779551|A dissecting aneurysm formed between the intimal and medial layers of the wall of the proximal portion of the descending aorta proceeding from the arch of the aorta.|NCI|N|
C5779553|A rare genetic cerebral small vessel disease with isolated marked tortuosity of second order and third order retinal arteries with normal first order arteries and venous system, typically located in the macular and peripapillary area and developing during childhood or early adulthood. The disease may be asymptomatic, although most patients present variable degrees of transient vision loss due to retinal hemorrhage following physical exertion or minor trauma.|SNOMEDCT_US|N|
C5779554|The presence of an increased number of twists and turns of the retinal arterioles.|HPO|N|
C5779555|Isolated distichiasis is a rare congenital eyelid anomaly. The disease has characteristics of an accessory row of eyelashes (that may be partial or complete) posterior to the normal row of cilia, at or close to the meibomian gland orifices. This is not associated with any other condition and that may lead to ocular irritation and corneal damage if left untreated.|SNOMEDCT_US|N|
C5779557|Stage 0 includes: Tis, N0, M0. Tis: Carcinoma in situ (preinvasive carcinoma. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th ed.)|NCI|N|
C5779561|A rare chronic form of cutaneous amyloidosis, a skin disease with characteristics of the accumulation of amyloid deposits in the dermis. Clinical manifestations include the development of pruritic, often pigmented hyperkeratotic papules on trunk and extremities, especially on the shins. Histological findings include the deposition of amyloid or amyloid-like proteins in the papillary dermis.|SNOMEDCT_US|N|
C5779593|A deficiency in or reduction of the number of blood cells.|MSH|N|
C5779613|Multiple congenital contractures in different body areas.|HPO|N|
C5779620|An Usher syndrome characterized by retinitis pigmentosa and onset of sensorineural hearing impairment in the teens that has material basis in mutation in the MTTS2 gene in the mitochondrial genome.|MONDO|N|
C5779622|A rare thyroid disease characterised by familial occurrence of thyroid enlargement due to the development of multiple hyperplastic nodules with onset in childhood or adolescence. The condition is commonly associated with the development of other benign or malignant tumours.|SNOMEDCT_US|N|
C5779628|A red eruption of the skin.|HPO|N|
C5779633|Lecithin:cholesterol acyltransferase deficiency is a disorder of lipoprotein metabolism and causes a typical triad of diffuse corneal opacities, target cell hemolytic anemia, and proteinuria with renal failure.|OMIM|N|
C5779644|Hepatic failure refers to the inability of the liver to perform its normal synthetic and metabolic functions, which can result in coagulopathy and alteration in the mental status of a previously healthy individual. Hepatic failure is defined as fulminant if there is onset of encephalopathy within 4 weeks of the onset of symptoms in a patient with a previously healthy liver.|HPO|N|
C5779660|Stage Group II is subdivided into IIA and IIB on the basis of whether the primary tumor is T3 or T4, respectively. T3: Tumor invades through the muscularis propria into the subserosa, or into non-peritonealized pericolic or perirectal tissues. T4: Tumor directly invades other organs or structures, and/or perforates visceral peritoneum. (AJCC 6th ed.)|NCI|N|
C5779661|Stage IV includes: Any T, any N, M1. M1: Distant metastasis. (AJCC 6th ed.)|NCI|N|
C5779663|A benign or malignant, primary or metastatic neoplasm involving the urinary tract (renal pelvis, ureter, bladder, and urethra).|NCI|N|
C5779670|A neoplasm that arises from the organs that comprise the urinary tract and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C5779702|A generalized motor seizure is a type of generalized-onset seizure with predominantly motor (involving musculature) signs. The motor event could consist of an increase (positive) or decrease (negative) in muscle contraction to produce a movement.|HPO|N|
C5779703|Stage IV includes: (Any T, Any N, M1). M1: Distant metastasis. (AJCC 6th ed.)|NCI|N|
C5779704|An electrocardiographic finding of ventricular tachycardia greater than 30 seconds in duration.|NCI|N|
C5779710|L1 syndrome involves a phenotypic spectrum ranging from severe to mild and includes three clinical phenotypes: X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS). MASA (mental retardation [intellectual disability], aphasia [delayed speech], spastic paraplegia [shuffling gait], adducted thumbs) syndrome including X-linked complicated hereditary spastic paraplegia type 1. X-linked complicated corpus callosum agenesis. Males with HSAS are born with severe hydrocephalus, adducted thumbs, and spasticity; intellectual disability is severe. In less severely affected males, hydrocephalus may be subclinically present and documented only because of developmental delay; intellectual disability ranges from mild (IQ: 50-70) to moderate (IQ: 30-50). It is important to note that all phenotypes can be observed in affected individuals within the same family.|GeneReviews|N|
C5779711|An X-linked form of L1 syndrome characterized by spastic paraplegia, mild to moderate intellectual disability, normal MRI of the brain.|MONDO|N|
C5779712|Stage I includes: T1, N0, M0. T1: Tumor confined to the vulva or vulva and perineum, 2cm or less in greatest dimension. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th ed.).|NCI|N|
C5779719|Stage IV includes: (T4, N1-3, M0); (T1-3, N3, M0); (Any T, Any N, M1). M1:Distant metastasis. (AJCC 6th ed.)|NCI|N|
C5779771|The position or physical attitude of the body.|MSH|N|
C5779776|Carpal tunnel syndrome-1 (CTS1) is characterized by hand pain and numbness in the distribution of the median nerve, with onset in the sixth decade of life. Amyloid deposits are observed in synovial tissue of the wrist and in the transverse carpal ligament (Murakami et al., 1994).
Genetic Heterogeneity of Carpal Tunnel Syndrome
CTS2 (619161) is caused by mutation in the COMP gene (600310) on chromosome 19p13.
Susceptibility to the development of mononeuropathy of the median (MNMN; 613353) may be conferred by heterozygous mutation in the SH3TC2 gene (608206) on chromosome 5q32.
Carpal tunnel syndrome has been described as a feature in amyloid neuropathy (see 176300) and in mucopolysaccharidoses (e.g., 253200) and mucolipidoses (252600).|OMIM|N|
C5779783|A form of portosinusoidal vascular disease characterized histologically by the absence of cirrhosis and diffuse benign transformation of the hepatic parenchyma into multiple small nodules (typically 1-3 mm).|ORDO|N|
C5779784|Malignant hyperthermia is characterized by a rapid increase in temperature to 39-42 degrees C. Malignant hyperthermia may occur in response to either inhalational anesthetics such as halothane, to muscle relaxants such as succinylcholine, or to exercise.|HPO|N|
C5779790|An anomaly of the pituitary gland.|HPO|N|
C5779820|Stage III includes: IIIA (T2a/b, N2, M0); (T3, N1, M0); (T4, N0, M0). IIIB: (T3, N2, M0). N0: No regional lymph node metastasis. N1: Metastasis in 1 to 6 regional lymph nodes. N2: Metastasis in 7 to 15 regional lymph nodes. T2a: Tumor invades muscularis propria. T2b: Tumor invades subserosa. T3: Tumor penetrates serosa (visceral peritoneum) without invasion of adjacent structures. T4: Tumor invades adjacent structures. M0: No distant metastasis. (AJCC 6th ed.)|NCI|N|
C5779825|A rare mitochondrial oxidative phosphorylation disorder with characteristics of a highly variable clinical phenotype, including a benign infantile mitochondrial type affecting mainly the skeletal muscle, a lethal infantile mitochondrial myopathy linked to severe metabolic acidosis and mitochondrial dysfunction in skeletal muscle and often also in heart, Leigh syndrome, which causes severe, early-onset, progressive, and fatal encephalopathy and French-Canadian type Leigh syndrome, which affects mostly the skeletal muscle, but also brain and liver.|SNOMEDCT_US|N|
C5779850|Any Usher syndrome in which the cause of the disease is a mutation in the CLRN1 gene.|MONDO|N|
C5779872|A rare genetic disease with characteristics of polyhydramnios (mostly due to placentomegaly), fetal macrosomia, abdominal wall defects, skeletal abnormalities (including bell-shaped thorax, coat-hanger appearance of the ribs and decreased mid to wide thorax diameter ratio in infancy), feeding difficulties and impaired swallowing, dysmorphic features (hairy forehead, full cheeks, protruding philtrum, micrognathia), developmental delay and intellectual disability. Additional features may include kyphoscoliosis, joint contractures, diastasis recti, and muscular hypotonia. There is increased risk of hepatoblastoma. The syndrome is an imprinting disorder involving genes within the imprinted region of chromosome 14q32.|SNOMEDCT_US|N|
C5779873|A form of frontootopalatodigital syndrome, characterized by deafness, cleft palate, and characteristic digital anomalies. OPD syndrome is divided into two forms based on severity: the milder form designated OPD type 1 (OPD1), and the more severe and often lethal form designated OPD type 2 (OPD2). OPD is an X-linked disorder. Two other genetic disorders with features overlapping OPD, frontometaphyseal dysplasia (FMD) and osteodysplasty, Melnick-Needles type (MNS) have been described; thus OPD1, OPD2, FMD, and MNS are allelic disorders.|MONDO|N|
C5779875|The classic phenotype of megalencephalic leukoencephalopathy with subcortical cysts (MLC) is characterized by early-onset macrocephaly, often in combination with mild gross motor developmental delay and seizures; gradual onset of ataxia, spasticity, and sometimes extrapyramidal findings; and usually late onset of mild mental deterioration. Macrocephaly, observed in virtually all individuals, may be present at birth but more frequently develops during the first year of life. The degree of macrocephaly is variable and can be as great as 4 to 6 SD above the mean in some individuals. After the first year of life, head growth rate normalizes and growth follows a line parallel to and usually several centimeters above the 98th centile. Initial mental and motor development is normal in most individuals. Walking is often unstable, followed by ataxia of the trunk and extremities, then minor signs of pyramidal dysfunction and brisk deep-tendon stretch reflexes. Almost all individuals have epilepsy from an early age. The epilepsy is typically well controlled with anti-seizure medication, but status epilepticus occurs relatively frequently. Mental deterioration is late and mild. Disease severity ranges from independent walking for a few years only to independent walking in the fifth decade. Some individuals have died in their teens or twenties; others are alive in their fifties. An improving phenotype has a similar initial presentation with delayed mental or motor development, followed by an improving clinical course: macrocephaly usually persists, but some children become normocephalic; motor function improves or normalizes; hypotonia and clumsiness may persist in some or neurologic examination may become normal. Some have intellectual disability that is stable, with or without autism. Epilepsy and status epilepticus may occur.|GeneReviews|N|
C5779877|An autosomal dominant condition caused by heterozygous hexanucleotide repeat expansion in a noncoding region of the C9ORF72 gene , encoding guanine nucleotide exchange C9orf72. It is characterized by amyotrophic lateral sclerosis with frontotemporal dementia.|NCI|N|
C5779888|A neuroblastoma arising from the retina.|NCI|N|
C5779889|Stage IV includes: IVA: (Any T, Any N, M1a); IVB: (Any T, Any N, M1b). M1a: Metastasis confined to one organ or site (e.g., liver, lung, ovary, nonregional node). M1b: Metastases in more than one organ/site or the peritoneum. (AJCC 7th ed.)|NCI|N|
C5779964|A type of epilepsy associated with developmental impairment where the developmental impairment is due to both the underlying etiology, independent of epileptic activity, and the superimposed epileptic encephalopathy. An epileptic encephalopathy is where the epileptic activity itself contributes to severe cognitive and behavioral impairments above and beyond what might be expected from the underlying pathology alone.|SNOMEDCT_US|N|
C5779972|Any leukoencephalopathy with vanishing white matter in which the cause of the disease is a variation in the EIF2B1 gene.|MONDO|N|
C5779973|Leukoencephalopathy with vanishing white matter-5 (VWM5) is a chronic and progressive autosomal recessive leukoencephalopathy characterized by neurologic deterioration usually beginning in late infancy or early childhood; however, juvenile- and adult-onset cases have been reported. Neurologic signs include cerebellar ataxia, spasticity, and relatively preserved mental abilities. The disease is chronic and progressive with, in most individuals, additional episodes of rapid deterioration following febrile infections or minor head trauma. Death occurs after a variable period of a few years to a few decades, usually following an episode of fever and coma. Magnetic resonance imaging (MRI) and magnetic resonance spectroscopy are diagnostic and show a diffuse abnormality of the cerebral white matter beginning in the presymptomatic stage, with increasing amounts of the abnormal white matter vanishing and being replaced by cerebrospinal fluid; autopsy confirms these findings (summary by Leegwater et al., 2001). Ovarian dysgenesis may be present in affected females (Fogli et al., 2003).
For a discussion of genetic heterogeneity of VWM, see 603896.
Cree Leukoencephalopathy
An infantile leukoencephalopathy among the native Cree and Chippewayan indigenous population in Northern Quebec and Manitoba results from homozygosity for an arg195-to-his (R195H; 603945.0005) mutation in the EIF2B5 gene. These patients have disease onset between 3 and 9 months of age, with death in 100% by 21 months of age.|OMIM|N|
C5779989|A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability with characteristics of global developmental delay, postnatal microcephaly, intellectual disability, ataxia, sensorineural hearing loss and exocrine pancreatic insufficiency. More variable manifestations include hypotonia, growth retardation, peripheral demyelinating neuropathy, dysmorphic facial features and additional endocrine abnormalities. Brain imaging may show progressive cerebellar atrophy in some patients.|SNOMEDCT_US|N|
C5779991|A rare genetic eye disease with characteristics of congenital cataract, microcornea and corneal opacity resulting in severe visual impairment or blindness. Depending on the genetic background, other developmental ocular defects may also be present.|SNOMEDCT_US|N|
C5779996|PPP2R5D-related neurodevelopmental disorder is characterized by mild to severe neurodevelopmental delay. Pronounced hypotonia with delay in gross motor skills is common. Onset of independent walking varies widely and ataxia is reported. All reported individuals have speech impairment, with a wide range of abilities. Autism spectrum disorder is reported in six individuals. Macrocephaly is common. Seizures and ophthalmologic abnormalities are reported in fewer than half of individuals. Additional anomalies include skeletal, endocrine, and cardiac malformations, each reported in a few individuals. To date, 23 individuals with PPP2R5D-related neurodevelopmental disorder have been reported.|GeneReviews|N|
C5780021|A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of developmental delay, moderate to severe intellectual disability, dysmorphic features including craniosynostosis, micro/retrognathia, cleft palate, brachydactyly and short stature. Seizures, skeletal anomalies (such as arthrogryposis, gracile bones and pathological fractures) and renal abnormalities have also been described. Cerebral MRI may show periventricular white matter changes and ventriculomegaly.|SNOMEDCT_US|N|
C5780022|An autosomal dominant type of spinal muscular atrophy caused by mutation(s) in the DYNC1H1 gene, encoding cytoplasmic dynein 1 heavy chain 1.|NCI|N|
C5780027|An extremely rare primary bone dysplasia with increased bone density characterized by lethal neonatal dwarfism with hydrops, narrow chest and short limbs with extensive cortical thickening of all long bones, ribs, clavicles and scapulae, and coronal clefts in vertebral bodies.|MONDO|N|
C5780029|A rare genetic syndrome with characteristics of cortical malformations including posterior predominant lissencephaly and diffuse pachygyria, along with midline crossing defects, thin corpus callosum, dysplastic hippocampi, narrowing of the brainstem with small pons and midbrain, widening of the medulla and small cerebellum. Clinically, patients present global developmental delay, severe intellectual disability with poor or absent speech, axial hypotonia, and early-onset seizures among others.|SNOMEDCT_US|N|
C5780445|An intraoperative event that causes abnormal valve function; this is usually a tear in the leaflet or the chordae tendinae.|NCI|N|
C5780790|A rare trophoblastic neoplasm that arises in metastatic sites of testicular mixed germ cell tumors following chemotherapy, or is part of treated or untreated testicular mixed germ cell tumors, or is secondary to either chemotherapy-induced or spontaneous regression of testicular choriocarcinoma. It has also been described in central nervous system post-chemotherapy primary germ cell tumors. It is characterized by the presence of cysts lined by squamoid trophoblastic cells. The cysts are often compressed surrounded by other germ cell components.|NCI|N|
C5780809|A method that summarizes individual toxic effects into an overall toxicity burden score.|NCI|N|
C5780818|Presence of any form of communication (e.g., verbal or non-verbal) that does not align with cultural expectations or developmental level.|HPO|N|
C5780841|An epileptic seizure originating within networks limited to one hemisphere, in which the initial manifestation is non-motor (including autonomic, behavior arrest, cognitive, emotional, or sensory onsets), regardless of whether aware or with impaired awareness.|SNOMEDCT_US|N|
C5780940|Iron deposition within the lung. Primary pulmonary hemosiderosis is characterized by HEMOPTYSIS; IRON-DEFICIENCY ANEMIA, and diffuse pulmonary hemorrhage as seen as transient pulmonary infiltrates on RADIOGRAPHY. Even though large amounts of iron are laid down in the lung, with normal or increased total body iron, anemia occurs because of inability of the erythron to use iron sequestered in pulmonary MACROPHAGES.|MSH|N|
C5780983|An insertion mutation that occurs when one or more nucleotides in a gene is copied and repeated next to the original DNA sequence.|NCI|N|
C5780989|A change in the amino acid residue at position 49 in unconventional myosin-Ig where valine has been replaced by methionine.|NCI|N|
C5780990|A nucleotide substitution at position 145 of the coding sequence of the MYO1G gene where guanine has been mutated to adenine.|NCI|N|
C5781047|Private health insurance from a provider other than those listed.|NCI|N|
C5781218|A hemangioma that arises from the liver and is present at birth. The majority involute in infancy.|NCI|N|
C5781394|A papillary neoplasm of the urothelium. The papillary structures exhibit minimal architectural distortion and minimal atypia. Mitoses are infrequent. It usually occurs in the urinary bladder, but it can arise from other sites in the urinary tract. Patients are at an increased risk of developing new papillary lesions. Occasionally, the new lesions are urothelial carcinomas.|NCI|N|
C5781427|Addiction to inhaled nitrous oxide gas (N2O) is a growing concern.|HPO|N|
C5781610|Most patients with craniofacial microsomia-2 (CFM2) exhibit isolated unilateral or bilateral grade III microtia, with or without aural atresia, although some patients exhibit only minor external ear defects. Mandibular hypoplasia, micrognathia, and dental anomalies have also been observed (Quiat et al., 2023; Mao et al., 2023).
For a general phenotypic description and discussion of genetic heterogeneity of craniofacial microsomia, see CFM1 (164210).|OMIM|N|
C5781874|Epidermolytic hyperkeratosis-1 (EHK1) is a rare autosomal dominant disorder of cornification. The disorder usually presents at birth with erythema and blistering and is characterized in adulthood by warty flexural hyperkeratosis with fewer erosions and blisters. Ultrastructural analysis reveals clumping of the intermediate filaments within keratinocytes of the spinous and granular layers (summary by Whittock et al., 2001).
A form of epidermolytic hyperkeratosis that is limited to the palms and soles, designated palmoplantar keratoderma (EPPK; 144200), can also be caused by mutation in KRT1, as well KRT9 (607606).
Genetic Heterogeneity of Epidermolytic Hyperkeratosis
Mutation in the KRT10 gene (148080) results in both autosomal dominant (EHK2A; 620150) and autosomal recessive (EHK2B; 620707) forms of epidermolytic hyperkeratosis.|OMIM|N|
C5781955|Reduced activity of the enzyme delta-aminolevulinate dehydratase. The enzyme is active in erythrocytes.|HPO|N|
C5781976|The volume of urine retained in the bladder after urination.|NCI|N|
C5782091|Invasive urothelial carcinoma exhibiting micropapillary growth pattern.|NCI|N|
C5782299|An invasive urothelial carcinoma characterized by the presence of clear (glycogen-rich) cells.|NCI|N|
C5782305|Downward pointing exostoses of the occipital bone situated in the tendinous insertions of the sternocleidomastoid and trapezius muscles.|HPO|N|
C5783354|Glasgow Coma Scale-NINDS Version 1.0 (GCS NINDS Version 1.0) Total score.|NCI|N|
C5783364|An indication that there was not enough sample available.|NCI|N|
C5783366|An antiquated primary tumor finding term that refers to colorectal cancer which has spread by direct extension beyond the immediately adjacent organs or tissues. (AJCC 1st Ed.)|NCI|N|
C5783374|A squamous cell carcinoma that arises from the penis and is not caused by human papillomavirus infection. Morphologic variants include pseudohyperplastic, pseudoglandular, verrucous, papillary, and sarcomatoid carcinoma.|NCI|N|
C5783378|Acinar prostate adenocarcinoma characterized by the presence of microcystic foci in radical prostatectomy specimens.|NCI|N|
C5783379|An extremely rare prostate acinar adenocarcinoma characterized by the presence of giant, bizarre anaplastic cells with pleomorphic nuclei and lack of a spindle cell component.|NCI|N|
C5783409|Psoriasis Area and Severity Index Feldman Version (PASI Feldman Version) Head: Erythema/Redness symptom score.|NCI|N|
C5783410|Psoriasis Area and Severity Index Feldman Version (PASI Feldman Version) Head: Thickness/Induration symptom score.|NCI|N|
C5783411|Psoriasis Area and Severity Index Feldman Version (PASI Feldman Version) Head: Desquamation/Scaling symptom score.|NCI|N|
C5783412|Psoriasis Area and Severity Index Feldman Version (PASI Feldman Version) Head: Area score.|NCI|N|
C5783413|Psoriasis Area and Severity Index Feldman Version (PASI Feldman Version) Upper Extremities: Erythema/Redness symptom score.|NCI|N|
C5783414|Psoriasis Area and Severity Index Feldman Version (PASI Feldman Version) Upper Extremities: Thickness/Induration symptom score.|NCI|N|
C5783415|Psoriasis Area and Severity Index Feldman Version (PASI Feldman Version) Upper Extremities: Area score.|NCI|N|
C5783416|Psoriasis Area and Severity Index Feldman Version (PASI Feldman Version) Trunk: Erythema/Redness symptom score.|NCI|N|
C5783417|Psoriasis Area and Severity Index Feldman Version (PASI Feldman Version) Trunk: Thickness/Induration symptom score.|NCI|N|
C5783418|Psoriasis Area and Severity Index Feldman Version (PASI Feldman Version) Trunk: Desquamation/Scaling symptom score.|NCI|N|
C5783419|Psoriasis Area and Severity Index Feldman Version (PASI Feldman Version) Trunk: Area score.|NCI|N|
C5783420|Psoriasis Area and Severity Index Feldman Version (PASI Feldman Version) Lower Extremities: Erythema/Redness symptom score.|NCI|N|
C5783421|Psoriasis Area and Severity Index Feldman Version (PASI Feldman Version) Lower Extremities: Thickness/Induration symptom score.|NCI|N|
C5783422|Psoriasis Area and Severity Index Feldman Version (PASI Feldman Version) Lower Extremities: Desquamation/Scaling symptom score.|NCI|N|
C5783423|Psoriasis Area and Severity Index Feldman Version (PASI Feldman Version) Lower Extremities: Area score.|NCI|N|
C5783424|Psoriasis Area and Severity Index Feldman Version (PASI Feldman Version) Head: Sum of symptom scores.|NCI|N|
C5783425|Psoriasis Area and Severity Index Feldman Version (PASI Feldman Version) Head: Sum of symptom scores x area score.|NCI|N|
C5783426|Psoriasis Area and Severity Index Feldman Version (PASI Feldman Version) Head: Sum x area x 0.1.|NCI|N|
C5783427|Psoriasis Area and Severity Index Feldman Version (PASI Feldman Version) Upper Extremities: Sum of symptom scores.|NCI|N|
C5783428|Psoriasis Area and Severity Index Feldman Version (PASI Feldman Version) Upper Extremities: Sum of symptom scores x area score.|NCI|N|
C5783429|Psoriasis Area and Severity Index Feldman Version (PASI Feldman Version) Upper Extremities: Sum x area x 0.2.|NCI|N|
C5783430|Psoriasis Area and Severity Index Feldman Version (PASI Feldman Version) Trunk: Sum of symptom scores.|NCI|N|
C5783431|Psoriasis Area and Severity Index Feldman Version (PASI Feldman Version) Trunk: Sum of symptom scores x area score.|NCI|N|
C5783432|Psoriasis Area and Severity Index Feldman Version (PASI Feldman Version) Trunk: Sum x area x 0.3.|NCI|N|
C5783433|Psoriasis Area and Severity Index Feldman Version (PASI Feldman Version) Lower Extremities: Sum of symptom scores.|NCI|N|
C5783434|Psoriasis Area and Severity Index Feldman Version (PASI Feldman Version) Lower Extremities: Sum of symptom scores x area score.|NCI|N|
C5783435|Psoriasis Area and Severity Index Feldman Version (PASI Feldman Version) Lower Extremities: Sum x area x 0.4.|NCI|N|
C5783436|Psoriasis Area and Severity Index Feldman Version (PASI Feldman Version) Total sum.|NCI|N|
C5783452|An angiosarcoma that arises from the liver during childhood. Most cases arise within preexisting liver infantile hemangiomas.|NCI|N|
C5783454|A cytogenetic abnormality indicating a rearrangement involving the band at q13.4 on the long arm of chromosome 19.|NCI|N|
C5783455|A pancreatoblastoma that occurs during childhood. It is the most common malignant pancreatic neoplasm in children younger than ten years of age.|NCI|N|
C5783456|An acinar cell carcinoma that arises from the pancreas during childhood.|NCI|N|
C5783457|An acinar cell cystadenocarcinoma that arises from the pancreas during childhood.|NCI|N|
C5783458|A solid pseudopapillary neoplasm of the pancreas occurring during childhood. It is the most frequent pediatric pancreatic tumor. It usually affects adolescent females.|NCI|N|
C5783459|A gastroblastoma that occurs during childhood.|NCI|N|
C5783464|The sum of the Allred proportion positive score and staining intensity score equaling 0. This denotes a negative result.|NCI|N|
C5783465|The sum of the Allred proportion positive score and staining intensity score equaling 1. This denotes a negative result.|NCI|N|
C5783466|The sum of the Allred proportion positive score and staining intensity score equaling 2. This denotes a negative result.|NCI|N|
C5783467|The sum of the Allred proportion positive score and staining intensity score equaling 3. This denotes a positive result.|NCI|N|
C5783468|The sum of the Allred proportion positive score and staining intensity score equaling 4. This denotes a positive result.|NCI|N|
C5783469|The sum of the Allred proportion positive score and staining intensity score equaling 5. This denotes a positive result.|NCI|N|
C5783470|The sum of the Allred proportion positive score and staining intensity score equaling 6. This denotes a positive result.|NCI|N|
C5783471|The sum of the Allred proportion positive score and staining intensity score equaling 7. This denotes a positive result.|NCI|N|
C5783472|The sum of the Allred proportion positive score and staining intensity score equaling 8. This denotes a positive result.|NCI|N|
C5783475|A follicular adenoma of the thyroid gland that occurs during childhood.|NCI|N|
C5783476|A spindle epithelial tumor with thymus-like elements that arises from the thyroid gland and occurs during childhood.|NCI|N|
C5783477|An adenoma of the parathyroid gland that occurs during childhood.|NCI|N|
C5783479|An adenoma of the adrenal cortex that occurs during childhood.|NCI|N|
C5783480|A carcinoma that arises from the adrenal cortex and occurs during childhood.|NCI|N|
C5783481|A malignant neoplasm arising from the epithelial cells of an endocrine organ during childhood.|NCI|N|
C5783482|A sympathetic paraganglioma that occurs during childhood.|NCI|N|
C5783483|A parasympathetic paraganglioma that occurs during childhood.|NCI|N|
C5783484|A composite paraganglioma that occurs during childhood.|NCI|N|
C5783485|A paraganglioma that occurs during childhood.|NCI|N|
C5783486|A neuroendocrine tumor that arises from the digestive system and occurs during childhood.|NCI|N|
C5783487|A neuroendocrine tumor that occurs during childhood.|NCI|N|
C5783488|A neuroendocrine tumor grade 2 that occurs during childhood.|NCI|N|
C5783489|A benign or malignant neoplasm that involves the tissues of the thorax during childhood.|NCI|N|
C5783491|A benign or malignant neoplasm that involves the lungs during childhood.|NCI|N|
C5783492|A malignant neoplasm that involves the tissues of the thorax during childhood.|NCI|N|
C5783493|A change in the nucleotide sequence of the TRAF3 gene.|NCI|N|
C5783494|A malignant neoplasm that involves the lungs during childhood.|NCI|N|
C5783496|A benign tumor that arises from striated cardiac myocytes during childhood. It is the most common heart tumor in the pediatric population.|NCI|N|
C5783497|A lesion that does not contain liquid or cystic areas.|NCI|N|
C5783507|A benign or malignant neoplasm that affects the anatomic structures of the head and neck region and occurs during childhood.|NCI|N|
C5783509|A malignant neoplasm that affects the anatomic structures of the head and neck region and occurs during childhood.|NCI|N|
C5783511|A malignant neoplasm that affects the skin and occurs during childhood.|NCI|N|
C5783517|Ocular melanoma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5783518|Uveal melanoma that has spread from its original site of growth to nearby tissues or lymph nodes and is not amenable to surgical resection.|NCI|N|
C5783523|A squamous cell carcinoma that is not associated with human papillomavirus and has metastasized to the head and neck region from an unknown primary anatomic site.|NCI|N|
C5783524|A squamous papilloma of the larynx that occurs during childhood.|NCI|N|
C5783526|A benign or malignant neoplasm that arises from tooth-forming tissues and occurs during childhood.|NCI|N|
C5783527|An ameloblastoma that occurs during childhood.|NCI|N|
C5783528|An ameloblastic fibroma that occurs during childhood.|NCI|N|
C5783529|An adenomatoid odontogenic tumor that occurs during childhood.|NCI|N|
C5783530|An odontogenic myxoma that occurs during childhood.|NCI|N|
C5783531|An ossifying fibroma that occurs during childhood.|NCI|N|
C5783533|A rare, benign, non-odontogenic tumor that arises from the sinonasal tract and occurs almost exclusively in children younger than three years old. It is a hypocellular tumor composed of spindle, stellate, or round cells in a myxoid stroma.|NCI|N|
C5783534|A salivary gland pleomorphic adenoma that occurs during childhood.|NCI|N|
C5783554|The reemergence of carcinoma after a period of remission, at or adjacent to the site of the original tumor.|NCI|N|
C5783555|The reemergence of lung non-small cell carcinoma after a period of remission, at or adjacent to the site of the original tumor.|NCI|N|
C5783556|The reemergence of breast carcinoma after a period of remission, at or adjacent to the site of the original tumor.|NCI|N|
C5783557|The reemergence of clear cell renal cell carcinoma after a period of remission, at or adjacent to the site of the original tumor.|NCI|N|
C5783558|The reemergence of gastric carcinoma after a period of remission, at or adjacent to the site of the original tumor.|NCI|N|
C5783559|The reemergence of colorectal carcinoma after a period of remission, at or adjacent to the site of the original tumor.|NCI|N|
C5783560|The reemergence of ovarian carcinoma after a period of remission, at or adjacent to the site of the original tumor.|NCI|N|
C5783564|A change in the nucleotide sequence for the regulatory region of a gene that is the binding site for proteins that initiate gene transcription, such as transcription factors and RNA polymerase.|NCI|N|
C5783566|A score based on a gene signature profile that measures the expression of MHC class II genes and genes that are involved in the MHC class II immune response pathway that has been normalized to the geometric mean of the expression of housekeeping genes. Expression of the MHC class II pathway correlates with disease-free survival and low risk for recurrence.|NCI|N|
C5783567|HER2-negative breast carcinoma that has not spread beyond the breast and the axillary lymph nodes.|NCI|N|
C5783589|Melanoma that is amenable to surgical resection.|NCI|N|
C5783590|Cutaneous melanoma that is amenable to surgical resection.|NCI|N|
C5783592|Erectile dysfunction that does not respond to treatment.|NCI|N|
C5783599|A mucoepidermoid carcinoma that occurs during childhood.|NCI|N|
C5783600|A mucoepidermoid carcinoma of the salivary gland that occurs during childhood.|NCI|N|
C5783601|An acinic cell carcinoma of the salivary gland that occurs during childhood.|NCI|N|
C5783602|A rare carcinoma that occurs during childhood.|NCI|N|
C5783603|A nasopharyngeal carcinoma that occurs during childhood.|NCI|N|
C5783604|A NUT carcinoma that occurs during childhood.|NCI|N|
C5783605|A NUT carcinoma that arises from the head and neck and occurs during childhood.|NCI|N|
C5783606|A pilomatricoma that occurs during childhood.|NCI|N|
C5783607|A rare melanoma of the skin that occurs during childhood.|NCI|N|
C5783608|A Spitz nevus that occurs during childhood.|NCI|N|
C5783609|A blue nevus that occurs during childhood.|NCI|N|
C5783610|A circumscribed proliferation of melanocytes in the skin that occurs during childhood. It is characterized by the absence of atypical or malignant cytological features, and absence of invasive features or metastatic potential.|NCI|N|
C5783611|A junctional nevus that occurs during childhood.|NCI|N|
C5783612|A compound nevus that occurs during childhood.|NCI|N|
C5783613|A dermal nevus that occurs during childhood.|NCI|N|
C5783670|A hereditary cancer syndrome characterized by the development of multiple paragangliomas including pheochromocytomas. It is caused by mutations in SDHA, SDHB, SDHC, SDHD, and SDHAF2 genes.|NCI|N|
C5783680|T/NK-cell lymphoproliferative disorder that is resistant to treatment.|NCI|N|
C5783681|The reemergence of T/NK-cell lymphoproliferative disorder after a period of remission.|NCI|N|
C5783683|The reemergence of T-cell and NK-cell neoplasm after a period of remission.|NCI|N|
C5783684|T-cell and NK-cell neoplasm that is resistant to treatment.|NCI|N|
C5783685|T/NK-cell lymphoproliferative disorder that is associated with Epstein-Barr virus.|NCI|N|
C5783687|Colon adenocarcinoma that has spread from its original site of growth to nearby tissues or lymph nodes.|NCI|N|
C5783770|Papillary renal cell carcinoma that is not amenable to surgical resection.|NCI|N|
C5783771|Unclassified renal cell carcinoma that is not amenable to surgical resection.|NCI|N|
C5783772|The results of an assessment or the content of one or more standard operating procedures (SOP) instance(s).|NCI|N|
C5783798|A semiquantitative genetic finding indicating that the tumor mutation burden is less than one mutation per megabase of sequenced DNA.|NCI|N|
C5783799|A neoplasm that occurs during childhood and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C5783800|A childhood neoplasm that arises from the breast and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C5783801|A malignant neoplasm that affects the breast and occurs during childhood.|NCI|N|
C5783802|A childhood neoplasm that arises from connective and soft tissue and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C5783803|A malignant neoplasm that affects the bone or articular cartilage and occurs during childhood.|NCI|N|
C5783804|A childhood neoplasm that arises from the digestive system and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C5783805|A childhood neoplasm that arises from the liver and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C5783811|A childhood epithelial neoplasm that arises from an endocrine organ and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C5783812|A childhood neoplasm that arises from any part of the genitourinary system and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C5783816|A childhood neoplasm that arises from the kidney and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C5783820|A childhood neoplasm that arises from the head and neck and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C5783823|A childhood neoplasm that arises from the skin and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C5783825|A childhood neoplasm that arises from the tissues of thorax and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C5783826|A childhood neoplasm that arises from the lung and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C5783827|A childhood neoplasm that arises from the nervous system and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C5783828|A primary or metastatic malignant neoplasm that affects the nervous system and occurs during childhood.|NCI|N|
C5783830|Oropharyngeal undifferentiated carcinoma that has spread from its original site of growth to nearby tissues or lymph nodes.|NCI|N|
C5783831|Oropharyngeal undifferentiated carcinoma that is not amenable to surgical resection.|NCI|N|
C5783832|Ovarian high-grade serous adenocarcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5783833|A semi-quantitative microscopic finding indicating that more than 10 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells of lymphoid origin.|NCI|N|
C5783834|A semi-quantitative microscopic finding indicating that more than 10 percent of the nucleated cells in a peripheral leukocyte sample are immature mononuclear cells of lymphoid origin.|NCI|N|
C5783845|A childhood neoplasm that arises from the ovary and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C5783846|A malignant neoplasm that affects the ovary and occurs during childhood.|NCI|N|
C5783850|Hormone receptor-negative breast carcinoma that is not amenable to surgical resection.|NCI|N|
C5783851|Hormone receptor-negative breast carcinoma that has spread from its original site of growth to another anatomic site.|NCI|N|
C5783852|Hormone receptor-negative breast carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5783853|The reemergence of microsatellite stable colorectal carcinoma after a period of remission.|NCI|N|
C5783854|A group of aggressive endometrial carcinomas with high-grade histological features. It includes high grade endometrial endometrioid adenocarcinoma, endometrial clear cell adenocarcinoma, endometrial serous adenocarcinoma, and endometrial undifferentiated carcinoma.|NCI|N|
C5783855|A malignant solid neoplasm that is confined to a specific site without evidence of spread to other anatomic sites.|NCI|N|
C5783866|An abnormal laboratory test result indicating the presence of IgD monoclonal immunoglobulin in the blood or urine.|NCI|N|
C5783873|A change in the nucleotide sequence of the MYO1G gene.|NCI|N|
C5783874|A variation in the amino acid sequence for unconventional myosin-Ig.|NCI|N|
C5783875|Digestive system neuroendocrine tumor G2 that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5783876|Pancreatic neuroendocrine tumor G1 that has spread from its original site of growth to another anatomic site.|NCI|N|
C5783877|Pancreatic neuroendocrine tumor G1 that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5783878|Pancreatic neuroendocrine tumor G2 that has spread from its original site of growth to another anatomic site.|NCI|N|
C5783879|Pancreatic neuroendocrine tumor G2 that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5783901|Melanoma that affects both the iris and ciliary body.|NCI|N|
C5783920|Oropharyngeal undifferentiated carcinoma that is amenable to surgical resection.|NCI|N|
C5783921|Pancreatic adenosquamous carcinoma that has spread from its original site of growth to another anatomic site.|NCI|N|
C5783922|Pancreatic squamous cell carcinoma that has spread from its original site of growth to another anatomic site.|NCI|N|
C5783923|Non-muscle invasive bladder carcinoma that has spread from its original site of growth to another anatomic site.|NCI|N|
C5783924|Non-muscle invasive bladder carcinoma that has spread from its original site of growth to nearby tissues or lymph nodes.|NCI|N|
C5783925|The reemergence of non-muscle invasive bladder carcinoma after a period of remission.|NCI|N|
C5783926|The reemergence of MGMT-methylated glioblastoma after a period of remission.|NCI|N|
C5783931|A group of T-cell and NK-cell non-Hodgkin lymphomas that express one or more cytotoxic markers. They are usually extranodal lymphomas with an aggressive clinical course.|NCI|N|
C5783932|Pancreatic neuroendocrine tumor that is not amenable to surgical resection.|NCI|N|
C5783933|Genitourinary system carcinoma that is not amenable to surgical resection.|NCI|N|
C5783936|The reemergence of accelerated phase chronic myelogenous leukemia, BCR-ABL1 positive after a period of remission.|NCI|N|
C5783937|Accelerated phase chronic myelogenous leukemia, BCR-ABL1 positive that is resistant to treatment.|NCI|N|
C5783945|A score that estimates the likelihood that an individual with have a recurrence of a disease.|NCI|N|
C5783955|An immunohistochemical finding indicating that at least 50 percent of the cells in a sample are expressing PD-L1.|NCI|N|
C5783958|Breast carcinoma that is positive for androgen receptors.|NCI|N|
C5783959|Androgen receptor-positive breast carcinoma that has spread from its original site of growth to another anatomic site.|NCI|N|
C5783960|Estrogen receptor-positive breast carcinoma that has spread from its original site of growth to another anatomic site.|NCI|N|
C5783969|A finding indicating the amount of monkeypox virus (MPXV) that was measured in a sample collected from a human subject.|NCI|N|
C5783973|A molecular abnormality indicating rearrangement of the DUX4 gene.|NCI|N|
C5783974|A molecular abnormality indicating rearrangement of the MEF2D gene.|NCI|N|
C5783977|A pathologic TNM finding following neoadjuvant treatment indicating that there is no evidence of primary tumor, lymph nodes, or distal metastases.|NCI|N|
C5783999|An original response associated with the Harvey-Bradshaw Index HBI0101 clinical classification question.|NCI|N|
C5784000|An original response associated with the Harvey-Bradshaw Index HBI0102 clinical classification question.|NCI|N|
C5784001|An original response associated with the Harvey-Bradshaw Index HBI0104 clinical classification question.|NCI|N|
C5784002|An original response associated with the Harvey-Bradshaw Index HBI0105A through HBI0105H clinical classification questions.|NCI|N|
C5784003|An original response associated with the Modified Van Assche Index MVAI101 clinical classification questions.|NCI|N|
C5784004|An original response associated with the Modified Van Assche Index MVAI102 clinical classification questions.|NCI|N|
C5784005|An original response associated with the Modified Van Assche Index MVAI103 clinical classification questions.|NCI|N|
C5784006|An original response associated with the Modified Van Assche Index MVAI104 clinical classification questions.|NCI|N|
C5784007|An original response associated with the Modified Van Assche Index MVAI105 clinical classification questions.|NCI|N|
C5784008|An original response associated with the Rutgeerts Score RUTG0101 clinical classification questions.|NCI|N|
C5784009|A standardized character response associated with the Harvey-Bradshaw Index HBI0101 clinical classification question.|NCI|N|
C5784010|A standardized character response associated with the Harvey-Bradshaw Index HBI0102 clinical classification question.|NCI|N|
C5784011|A standardized character response associated with the Harvey-Bradshaw Index HBI0104 clinical classification question.|NCI|N|
C5784012|A standardized character response associated with the Harvey-Bradshaw Index HBI0105A through HBI0105H clinical classification questions.|NCI|N|
C5784013|A standardized character response associated with the Modified Van Assche Index MVAI101 clinical classification questions.|NCI|N|
C5784014|A standardized character response associated with the Modified Van Assche Index MVAI102 clinical classification questions.|NCI|N|
C5784015|A standardized character response associated with the Modified Van Assche Index MVAI103 clinical classification questions.|NCI|N|
C5784016|A standardized character response associated with the Modified Van Assche Index MVAI104 clinical classification questions.|NCI|N|
C5784017|A standardized character response associated with the Modified Van Assche Index MVAI105 clinical classification questions.|NCI|N|
C5784018|A standardized character response associated with the Rutgeerts Score RUTG0101 clinical classification questions.|NCI|N|
C5784040|A question associated with the Rutgeerts Score clinical classification.|NCI|N|
C5784046|Lung carcinoma that is amenable to surgical resection.|NCI|N|
C5784047|Lung squamous cell carcinoma that is amenable to surgical resection.|NCI|N|
C5784048|Lung adenocarcinoma that is amenable to surgical resection.|NCI|N|
C5784050|B lymphoblastic leukemia/lymphoma characterized by a gene-expression profile similar to that of ETV6-RUNX1-positive B lymphoblastic leukemia/lymphoma, absence of the pathognomonic ETV6-RUNX1 rearrangement, and rearrangements or deletions of ETV6 and IKZF1 genes.|NCI|N|
C5784051|B acute lymphoblastic leukemia characterized by a gene-expression profile similar to that of ETV6-RUNX1-positive B acute lymphoblastic leukemia, absence of the pathognomonic ETV6-RUNX1 rearrangement, and rearrangements or deletions of ETV6 and IKZF1 genes.|NCI|N|
C5784052|Harvey-Bradshaw Index HBI0101 Original Result - Very well.|NCI|N|
C5784053|Harvey-Bradshaw Index HBI0101 Original Result - Slightly below par.|NCI|N|
C5784054|Harvey-Bradshaw Index HBI0101 Original Result - Poor.|NCI|N|
C5784055|Harvey-Bradshaw Index HBI0101 Original Result - Very poor.|NCI|N|
C5784056|Harvey-Bradshaw Index HBI0101 Original Result - Terrible.|NCI|N|
C5784057|Harvey-Bradshaw Index HBI0101 Standardized Character Result 0 - Very well.|NCI|N|
C5784058|Harvey-Bradshaw Index HBI0101 Standardized Character Result 1 - Slightly below par.|NCI|N|
C5784059|Harvey-Bradshaw Index HBI0101 Standardized Character Result 2 - Poor.|NCI|N|
C5784060|Harvey-Bradshaw Index HBI0101 Standardized Character Result 3 - Very poor.|NCI|N|
C5784061|Harvey-Bradshaw Index HBI0101 Standardized Character Result 4 - Terrible.|NCI|N|
C5784062|Harvey-Bradshaw Index HBI0102 Original Result - None.|NCI|N|
C5784063|Harvey-Bradshaw Index HBI0102 Original Result - Mild.|NCI|N|
C5784064|Harvey-Bradshaw Index HBI0102 Original Result - Moderate.|NCI|N|
C5784065|Harvey-Bradshaw Index HBI0102 Original Result - Severe.|NCI|N|
C5784066|Harvey-Bradshaw Index HBI0102 Standardized Character Result 0 - None.|NCI|N|
C5784067|Harvey-Bradshaw Index HBI0102 Standardized Character Result 1 - Mild.|NCI|N|
C5784068|Harvey-Bradshaw Index HBI0102 Standardized Character Result 2 - Moderate.|NCI|N|
C5784069|Harvey-Bradshaw Index HBI0102 Standardized Character Result 3 - Severe.|NCI|N|
C5784070|Harvey-Bradshaw Index HBI0104 Original Result - None.|NCI|N|
C5784071|Harvey-Bradshaw Index HBI0104 Original Result - Dubious.|NCI|N|
C5784072|Harvey-Bradshaw Index HBI0104 Original Result - Definite.|NCI|N|
C5784073|Harvey-Bradshaw Index HBI0104 Original Result - definite and tender.|NCI|N|
C5784074|Harvey-Bradshaw Index HBI0104 Standardized Character Result 0 - None.|NCI|N|
C5784075|Harvey-Bradshaw Index HBI0104 Standardized Character Result 1 - Dubious.|NCI|N|
C5784076|Harvey-Bradshaw Index HBI0104 Standardized Character Result 2 - Definite.|NCI|N|
C5784077|Harvey-Bradshaw Index HBI0104 Standardized Character Result 3 - Definite and tender.|NCI|N|
C5784078|Harvey-Bradshaw Index HBI0105A Through HBI0105H Original Result - No.|NCI|N|
C5784079|Harvey-Bradshaw Index HBI0105A Through HBI0105H Original Result - Yes.|NCI|N|
C5784080|Harvey-Bradshaw Index HBI0105A Through HBI0105H Standardized Character Result 0 - No.|NCI|N|
C5784081|Harvey-Bradshaw Index HBI0105A Through HBI0105H Standardized Character Result 1 - Yes.|NCI|N|
C5784082|Modified Van Assche Index MVAI101 Original Result - Absent.|NCI|N|
C5784083|Modified Van Assche Index MVAI101 Original Result - Infralevatoric.|NCI|N|
C5784084|Modified Van Assche Index MVAI101 Original Result - Horseshoe configuration.|NCI|N|
C5784085|Modified Van Assche Index MVAI101 Original Result - Supralevatoric.|NCI|N|
C5784086|Modified Van Assche Index MVAI101 Standardized Character Result 0 - Absent.|NCI|N|
C5784087|Modified Van Assche Index MVAI101 Standardized Character Result 1 - Infralevatoric.|NCI|N|
C5784088|Modified Van Assche Index MVAI101 Standardized Character Result 2 - Horseshoe configuration.|NCI|N|
C5784089|Modified Van Assche Index MVAI101 Standardized Character Result 3 - Supralevatoric.|NCI|N|
C5784090|Modified Van Assche Index MVAI102 Original Result - Absent.|NCI|N|
C5784091|Modified Van Assche Index MVAI102 Original Result - Mild.|NCI|N|
C5784092|Modified Van Assche Index MVAI102 Original Result - Pronounced.|NCI|N|
C5784093|Modified Van Assche Index MVAI102 Standardized Character Result 0 - Absent.|NCI|N|
C5784094|Modified Van Assche Index MVAI102 Standardized Character Result 1 - Mild.|NCI|N|
C5784095|Modified Van Assche Index MVAI102 Standardized Character Result 2 - Pronounced.|NCI|N|
C5784096|Modified Van Assche Index MVAI103 Original Result - Normal.|NCI|N|
C5784097|Modified Van Assche Index MVAI103 Original Result - Thickened.|NCI|N|
C5784098|Modified Van Assche Index MVAI103 Original Result - Increased signal intensity.|NCI|N|
C5784099|Modified Van Assche Index MVAI103 Standardized Character Result 0 - Normal.|NCI|N|
C5784100|Modified Van Assche Index MVAI103 Standardized Character Result 1 - Thickened.|NCI|N|
C5784101|Modified Van Assche Index MVAI103 Standardized Character Result 2 - Increased signal intensity.|NCI|N|
C5784102|Modified Van Assche Index MVAI104 Original Result - Absent.|NCI|N|
C5784103|Modified Van Assche Index MVAI104 Original Result - Diffuse.|NCI|N|
C5784104|Modified Van Assche Index MVAI104 Original Result - Focal.|NCI|N|
C5784105|Modified Van Assche Index MVAI104 Original Result - Collection - small.|NCI|N|
C5784106|Modified Van Assche Index MVAI104 Original Result - Collection - medium.|NCI|N|
C5784107|Modified Van Assche Index MVAI104 Original Result - Collection - large.|NCI|N|
C5784108|Modified Van Assche Index MVAI104 Standardized Character Result 0 - Absent.|NCI|N|
C5784109|Modified Van Assche Index MVAI104 Standardized Character Result 1 - Diffuse.|NCI|N|
C5784110|Modified Van Assche Index MVAI104 Standardized Character Result 2 - Focal.|NCI|N|
C5784111|Modified Van Assche Index MVAI104 Standardized Character Result 3 - Collection - small.|NCI|N|
C5784112|Modified Van Assche Index MVAI104 Standardized Character Result 4 - Collection - medium.|NCI|N|
C5784113|Modified Van Assche Index MVAI104 Standardized Character Result 5 - Collection - large.|NCI|N|
C5784114|Modified Van Assche Index MVAI105 Original Result - Fibrous.|NCI|N|
C5784115|Modified Van Assche Index MVAI105 Original Result - Granulation tissue.|NCI|N|
C5784116|Modified Van Assche Index MVAI105 Original Result - Fluid/pus.|NCI|N|
C5784117|Modified Van Assche Index MVAI105 Standardized Character Result 0 - Fibrous.|NCI|N|
C5784118|Modified Van Assche Index MVAI105 Standardized Character Result 1 - Granulation tissue.|NCI|N|
C5784119|Modified Van Assche Index MVAI105 Standardized Character Result 2 - Fluid/pus.|NCI|N|
C5784120|Rutgeerts Score RUTG0101 Original Result - No lesions.|NCI|N|
C5784121|Rutgeerts Score RUTG0101 Original Result - Less than 5 aphthous lesions.|NCI|N|
C5784122|Rutgeerts Score RUTG0101 Original Result - Greater than 5 aphthous lesions with normal mucosa between the lesions, or skip areas of larger lesions or lesions confined to the ileocolonic anastomosis (i.e., less than 1 cm in length).|NCI|N|
C5784123|Rutgeerts Score RUTG0101 Original Result - Diffuse aphthous ileitis with diffusely inflamed mucosa.|NCI|N|
C5784124|Rutgeerts Score RUTG0101 Original Result - Diffuse inflammation with already larger ulcers, nodules, and/or narrowing.|NCI|N|
C5784125|Rutgeerts Score RUTG0101 Standardized Character Result i0 - No lesions.|NCI|N|
C5784126|Rutgeerts Score RUTG0101 Standardized Character Result i1 - Less than 5 aphthous lesions.|NCI|N|
C5784127|Rutgeerts Score RUTG0101 Standardized Character Result i2 - Greater than 5 aphthous lesions with normal mucosa between the lesions, or skip areas of larger lesions or lesions confined to the ileocolonic anastomosis (i.e., less than 1 cm in length).|NCI|N|
C5784128|Rutgeerts Score RUTG0101 Standardized Character Result i3 - Diffuse aphthous ileitis with diffusely inflamed mucosa.|NCI|N|
C5784129|Rutgeerts Score RUTG0101 Standardized Character Result i4 - Diffuse inflammation with already larger ulcers, nodules, and/or narrowing.|NCI|N|
C5784133|A standardized scoring system developed by Rutgeerts et al. in 1990 that is used to assess postoperative disease recurrence in patients that have undergone ileocecal resection as treatment for Crohn disease.|NCI|N|
C5784149|Harvey-Bradshaw Index (HBI) Total score.|NCI|N|
C5784158|Modified Van Assche Index (MVAI) Total score.|NCI|N|
C5784159|Psoriasis Area and Severity Index Fredriksson Version (PASI Fredriksson Version) Head: Erythema/Redness symptom score.|NCI|N|
C5784160|Psoriasis Area and Severity Index Fredriksson Version (PASI Fredriksson Version) Head: Thickness/Induration symptom score.|NCI|N|
C5784161|Psoriasis Area and Severity Index Fredriksson Version (PASI Fredriksson Version) Head: Desquamation/Scaling symptom score.|NCI|N|
C5784162|Psoriasis Area and Severity Index Fredriksson Version (PASI Fredriksson Version) Head: Area score.|NCI|N|
C5784163|Psoriasis Area and Severity Index Fredriksson Version (PASI Fredriksson Version) Upper Extremities: Erythema/Redness symptom score.|NCI|N|
C5784164|Psoriasis Area and Severity Index Fredriksson Version (PASI Fredriksson Version) Upper Extremities: Thickness/Induration symptom score.|NCI|N|
C5784165|Psoriasis Area and Severity Index Fredriksson Version (PASI Fredriksson Version) Upper Extremities: Desquamation/Scaling symptom score.|NCI|N|
C5784166|Psoriasis Area and Severity Index Fredriksson Version (PASI Fredriksson Version) Upper Extremities: Area score.|NCI|N|
C5784167|Psoriasis Area and Severity Index Fredriksson Version (PASI Fredriksson Version) Trunk: Erythema/Redness symptom score.|NCI|N|
C5784168|Psoriasis Area and Severity Index Fredriksson Version (PASI Fredriksson Version) Trunk: Thickness/Induration symptom score.|NCI|N|
C5784169|Psoriasis Area and Severity Index Fredriksson Version (PASI Fredriksson Version) Trunk: Desquamation/Scaling symptom score.|NCI|N|
C5784170|Psoriasis Area and Severity Index Fredriksson Version (PASI Fredriksson Version) Trunk: Area score.|NCI|N|
C5784171|Psoriasis Area and Severity Index Fredriksson Version (PASI Fredriksson Version) Lower Extremities: Erythema/Redness symptom score.|NCI|N|
C5784172|Psoriasis Area and Severity Index Fredriksson Version (PASI Fredriksson Version) Lower Extremities: Thickness/Induration symptom score.|NCI|N|
C5784173|Psoriasis Area and Severity Index Fredriksson Version (PASI Fredriksson Version) Lower Extremities: Desquamation/Scaling symptom score.|NCI|N|
C5784174|Psoriasis Area and Severity Index Fredriksson Version (PASI Fredriksson Version) Lower Extremities: Area score.|NCI|N|
C5784175|Psoriasis Area and Severity Index Fredriksson Version (PASI Fredriksson Version) Head: Sum of symptom scores.|NCI|N|
C5784176|Psoriasis Area and Severity Index Fredriksson Version (PASI Fredriksson Version) Head: Sum of symptom scores x area score.|NCI|N|
C5784177|Psoriasis Area and Severity Index Fredriksson Version (PASI Fredriksson Version) Head: Sum x area x 0.1.|NCI|N|
C5784178|Psoriasis Area and Severity Index Fredriksson Version (PASI Fredriksson Version) Upper Extremities: Sum of symptom scores.|NCI|N|
C5784179|Psoriasis Area and Severity Index Fredriksson Version (PASI Fredriksson Version) Upper Extremities: Sum of symptom scores x area score.|NCI|N|
C5784180|Psoriasis Area and Severity Index Fredriksson Version (PASI Fredriksson Version) Upper Extremities: Sum x area x 0.2.|NCI|N|
C5784181|Psoriasis Area and Severity Index Fredriksson Version (PASI Fredriksson Version) Trunk: Sum of symptom scores.|NCI|N|
C5784182|Psoriasis Area and Severity Index Fredriksson Version (PASI Fredriksson Version) Trunk: Sum of symptom scores x area score.|NCI|N|
C5784183|Psoriasis Area and Severity Index Fredriksson Version (PASI Fredriksson Version) Trunk: Sum x area x 0.3.|NCI|N|
C5784184|Psoriasis Area and Severity Index Fredriksson Version (PASI Fredriksson Version) Lower Extremities: Sum of symptom scores.|NCI|N|
C5784185|Psoriasis Area and Severity Index Fredriksson Version (PASI Fredriksson Version) Lower Extremities: Sum of symptom scores x area score.|NCI|N|
C5784186|Psoriasis Area and Severity Index Fredriksson Version (PASI Fredriksson Version) Lower Extremities: Sum x area x 0.4.|NCI|N|
C5784187|Psoriasis Area and Severity Index Fredriksson Version (PASI Fredriksson Version) Total sum.|NCI|N|
C5784188|Psoriasis Area and Severity Index European Medical Agency Version (PASI EMA Version) Head: Erythema/Redness symptom score.|NCI|N|
C5784189|Psoriasis Area and Severity Index European Medical Agency Version (PASI EMA Version) Head: Thickness/Induration symptom score.|NCI|N|
C5784190|Psoriasis Area and Severity Index European Medical Agency Version (PASI EMA Version) Head: Desquamation/Scaling symptom score.|NCI|N|
C5784191|Psoriasis Area and Severity Index European Medical Agency Version (PASI EMA Version) Head: Area score.|NCI|N|
C5784192|Psoriasis Area and Severity Index European Medical Agency Version (PASI EMA Version) Upper Extremities: Erythema/Redness symptom score.|NCI|N|
C5784193|Psoriasis Area and Severity Index European Medical Agency Version (PASI EMA Version) Upper Extremities: Thickness/Induration symptom score.|NCI|N|
C5784194|Psoriasis Area and Severity Index European Medical Agency Version (PASI EMA Version) Upper Extremities: Desquamation/Scaling symptom score.|NCI|N|
C5784195|Psoriasis Area and Severity Index European Medical Agency Version (PASI EMA Version) Upper Extremities: Area score.|NCI|N|
C5784196|Psoriasis Area and Severity Index European Medical Agency Version (PASI EMA Version) Trunk: Erythema/Redness symptom score.|NCI|N|
C5784197|Psoriasis Area and Severity Index European Medical Agency Version (PASI EMA Version) Trunk: Thickness/Induration symptom score.|NCI|N|
C5784198|Psoriasis Area and Severity Index European Medical Agency Version (PASI EMA Version) Trunk: Desquamation/Scaling symptom score.|NCI|N|
C5784199|Psoriasis Area and Severity Index European Medical Agency Version (PASI EMA Version) Trunk: Area score.|NCI|N|
C5784200|Psoriasis Area and Severity Index European Medical Agency Version (PASI EMA Version) Lower Extremities: Erythema/Redness symptom score.|NCI|N|
C5784201|Psoriasis Area and Severity Index European Medical Agency Version (PASI EMA Version) Lower Extremities: Thickness/Induration symptom score.|NCI|N|
C5784202|Psoriasis Area and Severity Index European Medical Agency Version (PASI EMA Version) Lower Extremities: Desquamation/Scaling symptom score.|NCI|N|
C5784203|Psoriasis Area and Severity Index European Medical Agency Version (PASI EMA Version) Lower Extremities: Area score.|NCI|N|
C5784204|Psoriasis Area and Severity Index European Medical Agency Version (PASI EMA Version) Head: Sum of symptom scores.|NCI|N|
C5784205|Psoriasis Area and Severity Index European Medical Agency Version (PASI EMA Version) Head: Sum of symptom scores x area score.|NCI|N|
C5784206|Psoriasis Area and Severity Index European Medical Agency Version (PASI EMA Version) Head: Sum x area x 0.1.|NCI|N|
C5784207|Psoriasis Area and Severity Index European Medical Agency Version (PASI EMA Version) Upper Extremities: Sum of symptom scores.|NCI|N|
C5784208|Psoriasis Area and Severity Index European Medical Agency Version (PASI EMA Version) Upper Extremities: Sum of symptom scores x area score.|NCI|N|
C5784209|Psoriasis Area and Severity Index European Medical Agency Version (PASI EMA Version) Upper Extremities: Sum x area x 0.2.|NCI|N|
C5784210|Psoriasis Area and Severity Index European Medical Agency Version (PASI EMA Version) Trunk: Sum of symptom scores.|NCI|N|
C5784211|Psoriasis Area and Severity Index European Medical Agency Version (PASI EMA Version) Trunk: Sum of symptom scores x area score.|NCI|N|
C5784212|Psoriasis Area and Severity Index European Medical Agency Version (PASI EMA Version) Trunk: Sum x area x 0.3.|NCI|N|
C5784213|Psoriasis Area and Severity Index European Medical Agency Version (PASI EMA Version) Lower Extremities: Sum of symptom scores.|NCI|N|
C5784214|Psoriasis Area and Severity Index European Medical Agency Version (PASI EMA Version) Lower Extremities: Sum of symptom scores x area score.|NCI|N|
C5784215|Psoriasis Area and Severity Index European Medical Agency Version (PASI EMA Version) Lower Extremities: Sum x area x 0.4.|NCI|N|
C5784216|Psoriasis Area and Severity Index Bozek Version (PASI Bozek Version) Head: Erythema/Redness symptom score.|NCI|N|
C5784217|Psoriasis Area and Severity Index Bozek Version (PASI Bozek Version) Head: Thickness/Induration symptom score.|NCI|N|
C5784218|Psoriasis Area and Severity Index Bozek Version (PASI Bozek Version) Head: Desquamation/Scaling symptom score.|NCI|N|
C5784219|Psoriasis Area and Severity Index Bozek Version (PASI Bozek Version) Head: Area score.|NCI|N|
C5784220|Psoriasis Area and Severity Index Bozek Version (PASI Bozek Version) Upper Extremities: Erythema/Redness symptom score.|NCI|N|
C5784221|Psoriasis Area and Severity Index Bozek Version (PASI Bozek Version) Upper Extremities: Thickness/Induration symptom score.|NCI|N|
C5784222|Psoriasis Area and Severity Index Bozek Version (PASI Bozek Version) Upper Extremities: Desquamation/Scaling symptom score.|NCI|N|
C5784223|Psoriasis Area and Severity Index Bozek Version (PASI Bozek Version) Upper Extremities: Area score.|NCI|N|
C5784224|Psoriasis Area and Severity Index Bozek Version (PASI Bozek Version) Trunk: Erythema/Redness symptom score.|NCI|N|
C5784225|Psoriasis Area and Severity Index Bozek Version (PASI Bozek Version) Trunk: Thickness/Induration symptom score.|NCI|N|
C5784226|Psoriasis Area and Severity Index Bozek Version (PASI Bozek Version) Trunk: Desquamation/Scaling symptom score.|NCI|N|
C5784227|Psoriasis Area and Severity Index Bozek Version (PASI Bozek Version) Trunk: Area score.|NCI|N|
C5784228|Psoriasis Area and Severity Index Bozek Version (PASI Bozek Version) Lower Extremities: Erythema/Redness symptom score.|NCI|N|
C5784229|Psoriasis Area and Severity Index Bozek Version (PASI Bozek Version) Lower Extremities: Thickness/Induration symptom score.|NCI|N|
C5784230|Psoriasis Area and Severity Index Bozek Version (PASI Bozek Version) Lower Extremities: Desquamation/Scaling symptom score.|NCI|N|
C5784231|Psoriasis Area and Severity Index Bozek Version (PASI Bozek Version) Lower Extremities: Area score.|NCI|N|
C5784232|Psoriasis Area and Severity Index Bozek Version (PASI Bozek Version) Head: Sum of symptom scores.|NCI|N|
C5784233|Psoriasis Area and Severity Index Bozek Version (PASI Bozek Version) Head: Sum of symptom scores x area score.|NCI|N|
C5784234|Psoriasis Area and Severity Index Bozek Version (PASI Bozek Version) Head: Sum x area x 0.1.|NCI|N|
C5784235|Psoriasis Area and Severity Index Bozek Version (PASI Bozek Version) Upper Extremities: Sum of symptom scores.|NCI|N|
C5784236|Psoriasis Area and Severity Index Bozek Version (PASI Bozek Version) Upper Extremities: Sum of symptom scores x area score.|NCI|N|
C5784237|Psoriasis Area and Severity Index Bozek Version (PASI Bozek Version) Upper Extremities: Sum x area x 0.2.|NCI|N|
C5784238|Psoriasis Area and Severity Index Bozek Version (PASI Bozek Version) Trunk: Sum of symptom scores.|NCI|N|
C5784239|Psoriasis Area and Severity Index Bozek Version (PASI Bozek Version) Trunk: Sum of symptom scores x area score.|NCI|N|
C5784240|Psoriasis Area and Severity Index Bozek Version (PASI Bozek Version) Trunk: Sum x area x 0.3.|NCI|N|
C5784241|Psoriasis Area and Severity Index Bozek Version (PASI Bozek Version) Lower Extremities: Sum of symptom scores.|NCI|N|
C5784242|Psoriasis Area and Severity Index Bozek Version (PASI Bozek Version) Lower Extremities: Sum of symptom scores x area score.|NCI|N|
C5784243|Psoriasis Area and Severity Index Bozek Version (PASI Bozek Version) Lower Extremities: Sum x area x 0.4.|NCI|N|
C5784244|Psoriasis Area and Severity Index Bozek Version (PASI Bozek Version) Total sum.|NCI|N|
C5784245|Rutgeerts Score (Rutgeerts Score) Rutgeerts score.|NCI|N|
C5784254|Patient Health Questionnaire - 8 (PHQ-8) Total Score.|NCI|N|
C5784285|Voice Handicap Index (VHI) Part I-F subtotal.|NCI|N|
C5784286|Voice Handicap Index (VHI) Part II-P subtotal.|NCI|N|
C5784287|Voice Handicap Index (VHI) Part III-E subtotal.|NCI|N|
C5784288|Voice Handicap Index (VHI) Total score.|NCI|N|
C5784289|The reemergence of astrocytoma, IDH-mutant, grade 3 after a period of remission.|NCI|N|
C5784290|The reemergence of brain glioblastoma after a period of remission.|NCI|N|
C5784295|A finding of extremely low concentrations of testosterone in a sample following androgen suppression therapy or orchiectomy.|NCI|N|
C5784308|An interpretive summary of the tympanogram tracing result.|NCI|N|
C5784376|A positive finding that is strong in intensity, power, or magnitude.|NCI|N|
C5784378|The latest occurrence of an episode.|NCI|N|
C5784379|A measurement of the angle between the line from the center of the femoral head to the center of the femoral neck at its narrowest point and the line from the center of the femoral head to a point where the distance from the bone to the center of the head is greater than the radius of the cartilage-covered femoral head.|NCI|N|
C5784380|A measurement of the angle formed by the cartilaginous roof to the vertical cortex of the ilium.|NCI|N|
C5784411|An indication that the study subject needs to be treated with a medication that is prohibited per the protocol.|NCI|N|
C5784430|A renal cell carcinoma that cannot be classified into one of the established subtypes of renal cell carcinoma.|NCI|N|
C5784432|A renal cell carcinoma characterized by the presence of mutations in the ELOC (TCEB1) gene at 8q21.11.|NCI|N|
C5784442|A benign mesenchymal tumor that arises from the kidney and is composed of mature adipose tissue, thick-walled blood vessels, and epithelioid and spindle smooth muscle cells.|NCI|N|
C5784443|A rare angiomyolipoma of the kidney characterized by the presence of polygonal cells with eosinophilic cytoplasm.|NCI|N|
C5784444|A rare angiomyolipoma of the kidney characterized by the presence of solid and cystic architectural patterns. The cysts are lined by hobnail epithelial cells.|NCI|N|
C5784445|The reemergence of platinum-sensitive fallopian tube carcinoma after a period of remission.|NCI|N|
C5784457|The reemergence of platinum-sensitive primary peritoneal carcinoma after a period of remission.|NCI|N|
C5784458|Malignant nongerminomatous germ cell tumor that is resistant to treatment.|NCI|N|
C5784459|A change in the nucleotide sequence of the RAD51B gene that either inhibits expression or results in the translation of an inactive DNA repair protein RAD51 homolog 2.|NCI|N|
C5784461|Acute cardiovascular complications occurring in association with SARS-CoV-2 infection.|NCI|N|
C5784462|Acute myocardial injury diagnosed by rise and fall in cardiac troponin above the 99th percentile of a reference population.|NCI|N|
C5784463|Acute myocardial injury in an individual with probable or confirmed COVID-19 infection and no alternative explanation for acute myocardial injury.|NCI|N|
C5784464|Cardiogenic shock in a patient with probable or confirmed acute COVID-19.|NCI|N|
C5784465|Death attributable to heart disease during acute SARS-CoV-2 infection.|NCI|N|
C5784466|A score developed by the Coronary Artery Disease Reporting and Data System (CAD-RADS) to standardize reporting of the extent of coronary artery stenosis in patients undergoing coronary CT angiography (CCTA) and to guide patient management. All vessels greater than 1.5 mm in diameter are assessed for the most clinically relevant (usually highest-grade) stenosis.|NCI|N|
C5784469|A finding noted on auscultation of the lungs.|NCI|N|
C5784471|A finding indicating that there is prior evidence of COVID-19 in an individual who is no longer in the infectious period.|NCI|N|
C5784472|Cardiovascular sequelae persisting weeks or months after SARS-CoV-2 infection.|NCI|N|
C5784473|Transformation of plasma cell myeloma to plasma cell leukemia.|NCI|N|
C5784475|Acute myocardial injury with evidence of cardiogenic shock defined as clinical evidence of low cardiac index (e.g., less than 2.2 L/min/m2) accompanied by impaired tissue perfusion in a patient with probable or confirmed acute COVID-19.|NCI|N|
C5784476|Acute myocardial injury with evidence of new or worsening signs and symptoms of heart failure in a patient with probable or confirmed acute COVID-19.|NCI|N|
C5784477|Acute myocardial injury with evidence of new systolic dysfunction with reduced left ventricular ejection (LVEF less than 50%) in a patient with probable or confirmed acute COVID-19.|NCI|N|
C5784478|Acute myocardial injury with clinical, imaging, and or pathology evidence supporting myocarditis in a patient with probable or confirmed acute COVID-19.|NCI|N|
C5784479|Acute myocardial injury with evidence of newly reduced right ventricular function in a patient with probable or confirmed acute COVID-19.|NCI|N|
C5784480|Acute myocardial injury with clinical presentation suggestive of type I myocardial infarction with detection of a rise or fall of cardiac troponin values with at least one value above the 99th percentile upper reference limit and with at least 1 of the following: 1. Symptoms of acute myocardial ischemia; 2. New ischemic ECG changes; 3. Development of pathological Q waves; 4. Imaging evidence of new loss of viable myocardium or new regional wall motion abnormality in a pattern consistent with an ischemic etiology; 5. Identification of a coronary thrombus by angiography including intracoronary imaging or by autopsy, occurring in a patient with probable or confirmed acute COVID-19.|NCI|N|
C5784481|Acute myocardial injury, without evidence of acute ischemia, heart failure, a newly reduced left or right ventricular ejection fraction, cardiogenic shock, or myocarditis in a patient with probable or confirmed acute COVID-19.|NCI|N|
C5784482|Acute pericarditis in a patient with probable or confirmed acute COVID-19.|NCI|N|
C5784485|A cardiovascular adverse effect that is attributable to or associated with vaccines used to prevent COVID-19.|NCI|N|
C5784486|A cardiovascular adverse event that is attributable to or associated with medications used to treat COVID-19.|NCI|N|
C5784488|Bradycardia (ventricular rate less than 60 bpm) showing signs of hypoperfusion and that requires temporary or permanent pacemaker intervention in a patient with probable or confirmed acute COVID-19.|NCI|N|
C5784489|Atrial fibrillation in a patient without prior history of atrial tachyarrhythmias that started during probable or confirmed acute COVID-19 and persisted beyond four weeks after the initial diagnosis of COVID-19.|NCI|N|
C5784490|Newly occurring atrial fibrillation (AF) in a patient with probable or confirmed acute COVID-19. It is further categorized as first detected AF, paroxysmal AF (self-terminating within seven days of recognized onset), or persistent AF (not self-terminating within seven days).|NCI|N|
C5784491|Atrial flutter in a patient without prior history of atrial tachyarrhythmias that started during probable or confirmed acute COVID-19 and persisted beyond four weeks after the initial diagnosis of COVID-19.|NCI|N|
C5784492|Newly occurring atrial flutter in a patient with probable or confirmed acute COVID-19.|NCI|N|
C5784493|Thrombus formation in the chambers of the heart in a patient with probable or confirmed acute COVID-19.|NCI|N|
C5784494|A blood clot that has formed in the left ventricle of the heart in a patient with probable or confirmed acute COVID-19.|NCI|N|
C5784495|Cardiac arrest that is treated by defibrillation, regardless of outcome.|NCI|N|
C5784496|Death related to hemorrhage such as a non-stroke intracranial hemorrhage, non-procedural or non-traumatic vascular rupture, or hemorrhage causing cardiac tamponade in a patient with probable or confirmed acute COVID-19.|NCI|N|
C5784497|Death from a cardiovascular cause not otherwise noted but with a specific, known cause in a patient with probable or confirmed acute COVID-19.|NCI|N|
C5784504|Clinical signs of warmth and perfusion without volume overload or hypoperfusion and with a normal cardiac index in a patient with probable or confirmed acute COVID-19 that is not currently experiencing signs or symptoms of cardiogenic shock but is at risk for its development. These patients may include those with large acute myocardial infarction or prior infarction, or those with acute or acute on chronic heart failure symptoms.|NCI|N|
C5784505|Clinical signs of shock or compensated shock in a patient with probable or confirmed acute COVID-19 wherein they may be volume overloaded, tachycardic, and/or hypotensive but no evidence of hypoperfusion on physical exam or laboratory studies.|NCI|N|
C5784506|Clinical signs of cardiogenic shock with clinical evidence of hypotension and hypoperfusion (cold and wet) on physical examination that requires intervention (inotrope, pressor or mechanical support, including extracorporeal membrane oxygenation (ECMO)) beyond volume resuscitation to restore normal perfusion in a patient with probable or confirmed acute COVID-19. Invasive hemodynamics may demonstrate the classic depressed cardiac index associated with cardiogenic shock.|NCI|N|
C5784507|Clinical signs of deteriorating cardiogenic shock in a patient with probable or confirmed acute COVID-19. Failure to respond to initial interventions to restore adequate perfusion after 30 minutes. Further more intensive therapies are required, including the addition of mechanical circulatory support.|NCI|N|
C5784508|Clinical signs of extremis in a patient with cardiogenic shock and probable or confirmed acute COVID-19. Highly unstable, often with circulatory collapse and/or refractory cardiac arrest with ongoing cardiopulmonary resuscitation (CPR). They are being supported by multiple simultaneous acute interventions including extracorporeal membrane oxygenation (ECMO)-facilitated CPR (eCPR).|NCI|N|
C5784509|Reduced left ventricular function with less than 50% ejection fraction in a patient with history of suspected or confirmed myocardial ischemia or acute coronary syndrome (ACS) that started during probable or confirmed acute COVID-19 and persisted beyond four weeks after the initial diagnosis of COVID-19.|NCI|N|
C5784510|Reduced left ventricular function with less than 50% ejection fraction but without evidence of myocardial ischemia that started during probable or confirmed acute COVID-19 and persisted beyond four weeks after the initial diagnosis of COVID-19.|NCI|N|
C5784511|Death by any cardiovascular mechanism (e.g., arrhythmia, sudden death, heart failure (HF), stroke, pulmonary embolus, peripheral arterial disease) less than or equal to 30 days after a myocardial infarction (MI), related to the immediate consequences of the MI, such as progressive HF or recalcitrant arrhythmia in a patient with probable or confirmed acute COVID-19.|NCI|N|
C5784512|Distension of the neck veins precipitated by sustained pressure over the liver while patient is semi-recumbent. With normal heart function, pressure on the liver does not elevate the venous blood level in the neck veins.|NCI|N|
C5784513|Distension of the pulmonary veins, particularly in the upper lung fields.|NCI|N|
C5784524|A response indicating that arteries were treated for stenosis by using different stent types.|NCI|N|
C5784529|A respiratory infection that is diagnosed concurrently during an episode of acute illness caused by SARS-CoV-2.|NCI|N|
C5784530|Coronary artery aneurysm in a patient with probable or confirmed acute COVID-19.|NCI|N|
C5784531|A Coronary Artery Disease Reporting and Data System Coronary CT Angiography Score that indicates that no plaque or stenosis is present. Absence of coronary artery disease.|NCI|N|
C5784532|A Coronary Artery Disease Reporting and Data System Coronary CT Angiography Score that indicates that minimal stenosis (1-24%) or plaque with no stenosis is present. Minimal non-obstructive coronary artery disease.|NCI|N|
C5784533|A Coronary Artery Disease Reporting and Data System Coronary CT Angiography Score that indicates that mild stenosis (25-49%) is present. Mild non-obstructive coronary artery disease.|NCI|N|
C5784534|A Coronary Artery Disease Reporting and Data System Coronary CT Angiography Score that indicates that moderate stenosis (50-69%) is present.|NCI|N|
C5784535|A Coronary Artery Disease Reporting and Data System Coronary CT Angiography Score that indicates that severe stenosis (70-99%) or left main stenosis greater than or equal to 50% or 3-vessel obstructive (greater than or equal to 70%) disease is present.|NCI|N|
C5784536|A Coronary Artery Disease Reporting and Data System Coronary CT Angiography Score that indicates that total occlusion or subtotal occlusion is present.|NCI|N|
C5784537|Coronary artery ectasia in a patient with probable or confirmed acute COVID-19.|NCI|N|
C5784538|A complication in a patient with probable or confirmed acute COVID-19 that is not associated with a cardiovascular cause.|NCI|N|
C5784539|A new, discrete episode of acute COVID-19 in an individual with a prior history of probable/confirmed COVID-19.|NCI|N|
C5784540|An acute COVID-19 infection that is verified by detection of SARS-CoV-2 RNA in a clinical or autopsy specimen using a molecular amplification test (e.g., RT-PCR).|NCI|N|
C5784541|A likely acute COVID-19 infection as evidenced by detection of specific antibody in serum, plasma, or whole blood, or detection of specific antigen by immunocytochemistry in an autopsy specimen.|NCI|N|
C5784542|Abrupt reduction in kidney function as measured by urine output and renal biomarkers requiring any renal replacement therapy in a patient with probable or confirmed acute COVID-19.|NCI|N|
C5784543|Abrupt reduction in kidney function as measured by urine output and renal biomarkers but not requiring any renal replacement therapy in a patient with probable or confirmed acute COVID-19.|NCI|N|
C5784544|Acute liver injury manifested by rapid loss of liver function associated with abnormal liver enzyme levels, coagulopathy or encephalopathy, and often multiorgan failure in a patient with probable or confirmed acute COVID-19.|NCI|N|
C5784545|Acute liver injury associated with abnormal liver chemistries (greater than two times the upper limit of normal) in the absence of signs of hepatic failure (e.g., no coagulopathy or encephalopathy) in a patient with probable or confirmed acute COVID-19. This is usually mild, transient, and does not require intervention.|NCI|N|
C5784546|The sudden or severe onset of neurological deficit(s) attributable to an acute focal vascular injury of the central nervous system in a patient with probable or confirmed acute COVID-19.|NCI|N|
C5784563|Death in association with clinically worsening symptoms or signs of heart failure regardless of etiology in a patient with probable or confirmed acute COVID-19.|NCI|N|
C5784564|Death as a consequence of pulmonary embolism in a patient with probable or confirmed acute COVID-19.|NCI|N|
C5784565|Death following a stroke that is either a direct consequence of the stroke or a complication of the stroke in a patient with probable or confirmed acute COVID-19.|NCI|N|
C5784566|Formation of multiple thrombi in the large veins of the body, diagnosed with Doppler ultrasound, occurring most frequently in lower extremities or upper extremities, that started during probable or confirmed acute COVID-19 and persisted beyond four weeks after the initial diagnosis of COVID-19.|NCI|N|
C5784567|Deep vein thrombosis in a patient with probable or confirmed acute COVID-19.|NCI|N|
C5784568|Disseminated intravascular coagulation in a patient with probable or confirmed acute COVID-19.|NCI|N|
C5784571|Dyspnea experienced during minimal exertion.|NCI|N|
C5784572|Dyspnea experienced during moderate exertion.|NCI|N|
C5784573|Dyspnea that does not interfere with their physical activity.|NCI|N|
C5784574|Encephalopathy in a patient with probable or confirmed acute COVID-19.|NCI|N|
C5784576|New onset of heart failure with a clinical syndrome of dyspnea, fatigue, fluid retention/peripheral edema that started during probable or confirmed acute COVID-19 and persisted beyond four weeks after the initial diagnosis of COVID-19.|NCI|N|
C5784577|New or worsening signs of heart failure in a patient with probable or confirmed acute COVID-19. This can be the first presentation or it can reflect an acute decompensation in a patient with history of chronic heart failure.|NCI|N|
C5784580|Regional or global myocardial increase in signal intensity on T2-weighted images suggestive of edema.|NCI|N|
C5784581|Global myocardial increase in signal intensity on gadolinium-enhanced T1-weighted images suggestive of myocardial injury.|NCI|N|
C5784582|Regional or global myocardial injury as suggested by T1-weighted images.|NCI|N|
C5784583|Pericardial effusion or thickening as suggested by increased signal intensity or late gadolinium enhancement.|NCI|N|
C5784586|Inappropriate sinus tachycardia at rest with heart rate greater than 100 bpm that cannot be explained by any identifiable cause, including anemia, hypoxia, hypotension, or fever that started during probable or confirmed acute COVID-19 and persisted beyond four weeks after the initial diagnosis of COVID-19.|NCI|N|
C5784588|Normal breath sounds noted during auscultation.|NCI|N|
C5784590|The difference between the mean pulmonary artery pressure and the mean pulmonary capillary wedge pressure.|NCI|N|
C5784593|Greater than normal deep tendon reflexes.|NCI|N|
C5784594|A disorder of the nervous system related to a vascular etiology that started during probable or confirmed acute COVID-19 and persisted beyond four weeks after the initial diagnosis of COVID-19.|NCI|N|
C5784602|Pericardial effusion that started during probable or confirmed acute COVID-19 and persisted beyond four weeks after the initial diagnosis of COVID-19.|NCI|N|
C5784603|Pericardial effusion in a patient with probable or confirmed acute COVID-19.|NCI|N|
C5784604|Pericarditis that started during probable or confirmed acute COVID-19 and persisted beyond four weeks after the initial diagnosis of COVID-19.|NCI|N|
C5784605|A sudden or severe decrease in limb perfusion in a patient with probable or confirmed acute COVID-19, usually producing new or worsening symptoms or signs, and often threatening limb viability or resulting in limb amputation.|NCI|N|
C5784606|Postural orthostatic tachycardia syndrome (POTS) that started during probable or confirmed acute COVID-19 and persisted at least three months after the initial diagnosis of COVID-19.|NCI|N|
C5784607|A pregnancy complication in a patient with probable or confirmed acute COVID-19.|NCI|N|
C5784608|Presyncope in a patient with probable or confirmed acute COVID-19.|NCI|N|
C5784609|A finding indicating that there is prior evidence of COVID-19 in an individual who has residual sequelae of post-acute COVID-19.|NCI|N|
C5784610|A finding indicating that there is prior evidence of COVID-19 in an individual who has no residual sequelae of post-acute COVID-19.|NCI|N|
C5784611|A presumed acute COVID-19 infection as evidenced by detection of SARS-CoV-2 by antigen test in a respiratory specimen, by meeting clinical criteria and epidemiological linkage criteria for COVID-19 with no confirmatory laboratory testing performed, or by a death certificate that lists COVID-19 disease or SARS-CoV-2 as an underlying cause of death or a significant condition contributing to death with no confirmatory laboratory evidence of SARS-CoV-2.|NCI|N|
C5784612|Intravascular migration of a venous embolus to the pulmonary arterial circulation, microvascular thrombosis in the pulmonary capillaries, or pulmonary artery thrombus in situ diagnosed by a positive pulmonary angiogram, an unequivocally positive helical CT scan, a high-probability ventilation-perfusion scan, or autopsy that started during probable or confirmed acute COVID-19 and persisted beyond four weeks after the initial diagnosis of COVID-19.|NCI|N|
C5784613|Pulmonary embolism in a patient with probable or confirmed acute COVID-19.|NCI|N|
C5784614|The ratio of fraction of inspired oxygen (FiO2) to positive end-expiratory pressure (PEEP). This measured value may be adjusted on a mechanical ventilator to optimize treatment.|NCI|N|
C5784615|Rhabdomyolysis in a patient with probable or confirmed acute COVID-19.|NCI|N|
C5784617|Seizure in a patient with probable or confirmed acute COVID-19.|NCI|N|
C5784618|Systemic vasodilation leading to decreased blood flow to organs in a patient with probable or confirmed acute COVID-19.|NCI|N|
C5784620|Sudden cardiac death in a patient with probable or confirmed acute COVID-19.|NCI|N|
C5784621|Unexpected death caused by sudden cardiac arrest with asystole, pulseless electrical activity, sustained ventricular tachycardia, or ventricular fibrillation in a patient with probable or confirmed acute COVID-19 despite successful return of spontaneous circulation (ROSC).|NCI|N|
C5784623|Syncope in a patient with probable or confirmed acute COVID-19.|NCI|N|
C5784624|Supraventricular tachycardia other than atrial fibrillation or atrial flutter in a patient without prior history of atrial tachyarrhythmias that started during probable or confirmed acute COVID-19 and persisted beyond four weeks after the initial diagnosis of COVID-19.|NCI|N|
C5784625|A supraventricular tachycardia, including AV nodal re-entry, orthodromic re-entrant tachycardia, multifocal atrial tachycardia, other atrial tachycardia that lasts more then 30 seconds in a patient with probable or confirmed acute COVID-19.|NCI|N|
C5784631|Thrombophilia in a patient with probable or confirmed acute COVID-19.|NCI|N|
C5784635|Blood clot formation in the small blood vessels of the body in a patient with probable or confirmed acute COVID-19.|NCI|N|
C5784636|Ventricular tachycardia or ventricular fibrillation lasting greater than or equal to 30 seconds, or requiring direct current cardioversion (DCCV) in a patient with probable or confirmed acute COVID-19.|NCI|N|
C5784637|An electrocardiographic finding for the Q wave that is atypical for the duration (greater than or equal to 0.03 seconds) and amplitude (greater than or equal to 1 mm (0.1 mV)) in at least 2 contiguous leads.|NCI|N|
C5784638|A cytogenetic abnormality that refers to the translocation of the short arm (p21) of chromosome 6 and the long arm (q32) of chromosome 14. This juxtaposes the CCND3 gene with the promoter regions of the immunoglobulin heavy chain gene locus, which results in overexpression of the G1/S-specific cyclin-D3 protein.|NCI|N|
C5784645|Invasive urothelial carcinoma with lymphoepithelioma-like features.|NCI|N|
C5784646|An invasive urothelial carcinoma characterized by the presence of giant cells.|NCI|N|
C5784647|An invasive urothelial carcinoma that exhibits glandular differentiation.|NCI|N|
C5784648|An invasive urothelial carcinoma that exhibits squamous differentiation.|NCI|N|
C5784649|An invasive urothelial carcinoma characterized by the presence of trophoblastic differentiation.|NCI|N|
C5784650|Invasive urothelial carcinoma characterized by the presence of lipid laden tumor cells.|NCI|N|
C5784651|Invasive urothelial carcinoma characterized by microcysts formation.|NCI|N|
C5784652|Invasive urothelial carcinoma characterized by a nested growth pattern.|NCI|N|
C5784653|Invasive urothelial carcinoma characterized by the presence of malignant cells with plasmacytoid features.|NCI|N|
C5784655|Clear cell (glycogen-rich) urothelial carcinoma that has spread to another anatomic site.|NCI|N|
C5784656|Giant cell urothelial carcinoma that has spread to another anatomic site.|NCI|N|
C5784657|Lipid-rich urothelial carcinoma that has spread to another anatomic site.|NCI|N|
C5784658|Micropapillary urothelial carcinoma that has spread to another anatomic site.|NCI|N|
C5784659|Nested urothelial carcinoma that has spread to another anatomic site.|NCI|N|
C5784660|Plasmacytoid urothelial carcinoma that has spread to another anatomic site.|NCI|N|
C5784669|An indication that an individual has previously received platinum-based chemotherapy for their current malignancy.|NCI|N|
C5784679|An indication that the number of months that a subject''s blood concentration of prostate specific antigen took at least 4 months to double.|NCI|N|
C5784685|A microscopic finding indicating that the neoplastic cells are arranged in large compact nests in a tumor sample.|NCI|N|
C5784686|A rare invasive urothelial carcinoma characterized by the presence of medium to large nests of malignant cells.|NCI|N|
C5784687|A rare invasive bladder urothelial carcinoma characterized the presence of medium to large nests of malignant cells.|NCI|N|
C5784689|Invasive urothelial carcinoma characterized by the presence of a tubular growth pattern.|NCI|N|
C5784690|Invasive bladder urothelial carcinoma characterized the presence of a tubular growth pattern.|NCI|N|
C5784691|Invasive urothelial carcinoma that lacks the morphological features indicating urothelial origin. Immunohistochemical studies are required to demonstrate the urothelial lineage in these tumors.|NCI|N|
C5784692|Invasive bladder urothelial carcinoma that lacks the morphological features indicating urothelial origin. Immunohistochemical studies are required to demonstrate the urothelial lineage in these tumors.|NCI|N|
C5784695|Invasive urothelial carcinoma characterized by the presence of malignant cells forming trabeculae, cords, sheets, and nests. Individual malignant cells are also present.|NCI|N|
C5784696|Invasive bladder urothelial carcinoma characterized by the presence of malignant cells forming trabeculae, cords, sheets, and nests. Individual malignant cells are also present.|NCI|N|
C5784697|Sarcomatoid urothelial carcinoma that has spread to another anatomical site.|NCI|N|
C5784700|A rare papillary neoplastic growth that arises from the urothelial mucosa. It is characterized by the presence of fibrovascular cores lined by benign keratinizing squamous epithelium. There is no evidence of architectural or cytologic atypia. It usually occurs in elderly people and is found in the bladder and urethra.|NCI|N|
C5784707|An exophytic glandular neoplasm of the urinary tract, morphologically similar to its intestinal counterpart. It usually arises from the bladder and urachus. It often coexists with in situ or infiltrating bladder adenocarcinoma.|NCI|N|
C5784708|A carcinoma that arises from a diverticulum in the urinary tract. Most histological subtypes of urinary tract carcinomas have been reported in urinary tract diverticula.|NCI|N|
C5784710|A pouch or sac-like protrusion in the urinary tract.|NCI|N|
C5784713|A finding that indicates the amount of butyrate, which includes any salt or ester forms of the short chain fatty acid butyric acid, in a sample.|NCI|N|
C5784716|Squamous cell carcinoma occurring in the esophagus of a mouse.|NCI|N|
C5784717|A benign or malignant tumor occurring in the cerebellum of a mouse.|NCI|N|
C5784719|An exceptionally rare endometrioid adenocarcinoma that arises from the urinary tract. It occurs in middle-aged and elderly females. It is associated with genitourinary endometriosis and has been described in the bladder and ureter.|NCI|N|
C5784721|Myoclonic-atonic epilepsy caused by mutation(s) in the SLC6A1 gene, encoding sodium- and chloride-dependent GABA transporter 1.|NCI|N|
C5784729|An indication that a subject has had prostate radiation therapy in the past.|NCI|N|
C5784730|An indication that a subject has had a rectal surgical procedure in the past.|NCI|N|
C5784731|An indication that a subject has had an anal surgical procedure in the past.|NCI|N|
C5784732|The outcome of an assay.|NCI|N|
C5784734|The reemergence of primary cutaneous gamma-delta T-cell lymphoma after a period of remission|NCI|N|
C5784735|Primary cutaneous gamma-delta T-cell lymphoma that is resistant to treatment.|NCI|N|
C5784736|The reemergence of primary cutaneous CD8-positive aggressive epidermotropic cytotoxic T-cell lymphoma after a period of remission.|NCI|N|
C5784737|Primary cutaneous CD8-positive aggressive epidermotropic cytotoxic T-cell lymphoma that is resistant to treatment.|NCI|N|
C5784743|Extrapulmonary small cell neuroendocrine carcinoma that has spread to another anatomic site.|NCI|N|
C5784744|Small cell neuroendocrine carcinoma that is resistant to treatment.|NCI|N|
C5784745|Extrapulmonary small cell neuroendocrine carcinoma that is resistant to treatment.|NCI|N|
C5784746|Extrapulmonary small cell neuroendocrine carcinoma that is not amenable to surgical resection.|NCI|N|
C5784747|Prostate small cell neuroendocrine carcinoma that is not amenable to surgical resection.|NCI|N|
C5784748|Bladder small cell neuroendocrine carcinoma that is not amenable to surgical resection.|NCI|N|
C5784749|The reemergence of prostate small cell neuroendocrine carcinoma after a period of remission.|NCI|N|
C5784750|The reemergence of bladder small cell neuroendocrine carcinoma after a period of remission.|NCI|N|
C5784751|Bladder small cell neuroendocrine carcinoma that is resistant to treatment.|NCI|N|
C5784752|Prostate small cell neuroendocrine carcinoma that is resistant to treatment.|NCI|N|
C5784753|Adrenal cortical carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5784760|Prostate carcinoma with clinicopathologic, cytogenetic, and molecular findings that define a prostate carcinoma as intermediate risk.|NCI|N|
C5784761|Intermediate risk prostate carcinoma in which the prostate carcinoma-specific mortality and all-cause mortality rates are similar to the rates observed in high-risk prostate carcinoma.|NCI|N|
C5784762|Intermediate risk prostate carcinoma in which the prostate carcinoma-specific mortality and all-cause mortality rates are similar to the rates observed in low-risk prostate carcinoma.|NCI|N|
C5784763|An indication that an individual has previously received radiation treatment of the chest wall.|NCI|N|
C5784764|An indication that an individual has previously received radiation treatment of the thoracic region.|NCI|N|
C5784780|A molecular genetic abnormality indicating the presence of a splice site mutation that results in a loss of transcription of exon 14 of the DPYD gene.|NCI|N|
C5784781|A nucleotide substitution at position 1 of intron 14 of the DPYD gene where guanine has been mutated to adenine.|NCI|N|
C5784782|A nucleotide substitution at position 1679 of the coding sequence of the DPYD gene where thymine has been mutated to guanine.|NCI|N|
C5784783|A nucleotide substitution at position 1236 of the coding sequence of the DPYD gene where guanine has been mutated to adenine.|NCI|N|
C5784784|A nucleotide substitution at position 557 of the coding sequence of the DPYD gene where adenine has been mutated to guanine.|NCI|N|
C5784785|Infertility that is associated with a medical condition.|NCI|N|
C5784786|Infertility that is associated with a treatment.|NCI|N|
C5784787|A change in the nucleotide sequence of the SPOP gene.|NCI|N|
C5784788|A change in the nucleotide sequence of the SPOP gene that is associated with increased risk of disease.|NCI|N|
C5784789|A change in the amino acid residue at position 560 in the dihydropyrimidine dehydrogenase [NADP(+)] protein where isoleucine has been replaced by serine.|NCI|N|
C5784790|A change in the amino acid residue at position 949 in the dihydropyrimidine dehydrogenase [NADP(+)] protein where aspartic acid has been replaced by valine.|NCI|N|
C5784792|A change in the amino acid residue at position 186 in the dihydropyrimidine dehydrogenase [NADP(+)] protein where tyrosine has been replaced by cysteine.|NCI|N|
C5784796|A change in the nucleotide sequence of the ESR1 gene that that results in constitutive activation of estrogen receptor and its downstream signaling pathways.|NCI|N|
C5784798|A morphologic finding indicating the presence of large malignant glands that are lined with pseudostratified epithelium in a tumor sample.|NCI|N|
C5784799|A prostate carcinoma with partial or complete neuroendocrine differentiation that results from the transformation of castration-resistant prostate adenocarcinoma following potent androgen-deprivation therapy. The prognosis is poor.|NCI|N|
C5784805|A small or large cell neuroendocrine carcinoma that arises from an anatomic site other than the lung.|NCI|N|
C5784806|The reemergence of extrapulmonary neuroendocrine carcinoma after a period of remission.|NCI|N|
C5784807|Extrapulmonary neuroendocrine carcinoma that is resistant to treatment.|NCI|N|
C5784808|Extrapulmonary neuroendocrine carcinoma that is not amenable to surgical resection.|NCI|N|
C5784809|Extrapulmonary neuroendocrine carcinoma that has spread to another anatomic site.|NCI|N|
C5784810|Extrapulmonary neuroendocrine carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5784811|Extrapulmonary neuroendocrine carcinoma that has spread from its original site of growth to nearby tissues or lymph nodes.|NCI|N|
C5784812|A large cell neuroendocrine carcinoma that arises from an anatomic site other than the lung.|NCI|N|
C5784813|The reemergence of extrapulmonary large cell neuroendocrine carcinoma after a period of remission.|NCI|N|
C5784814|Extrapulmonary large cell neuroendocrine carcinoma that is resistant to treatment.|NCI|N|
C5784815|Extrapulmonary large cell neuroendocrine carcinoma that is not amenable to surgical resection.|NCI|N|
C5784816|Extrapulmonary large cell neuroendocrine carcinoma that has spread to another anatomic site.|NCI|N|
C5784818|Extrapulmonary large cell neuroendocrine carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5784819|Extrapulmonary large cell neuroendocrine carcinoma that has spread from its original site of growth to nearby tissues or lymph nodes.|NCI|N|
C5784820|Extrapulmonary small cell neuroendocrine carcinoma that has spread from its original site of growth to nearby tissues or lymph nodes.|NCI|N|
C5784821|Extrapulmonary small cell neuroendocrine carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5784822|Large cell neuroendocrine carcinoma that is resistant to treatment.|NCI|N|
C5784833|Small cell neuroendocrine carcinoma that is not amenable to surgical resection.|NCI|N|
C5784837|Lung neuroendocrine carcinoma that is not amenable to surgical resection.|NCI|N|
C5784839|The reemergence of large cell neuroendocrine carcinoma after a period of remission.|NCI|N|
C5784863|Age of a subject when molecular analysis was performed.|NCI|N|
C5784893|Intratubular germ cell neoplasia characterized by the filling of the seminiferous tubules by embryonal carcinoma cells. Central necrosis and calcifications are often present.|NCI|N|
C5784895|Testicular yolk sac tumor that is associated with germ cell neoplasia in situ and usually occurs as a component of mixed germ cell tumor. Pure postpubertal-type testicular yolk sac tumor is exceedingly rare.|NCI|N|
C5784896|Testicular yolk sac tumor that almost always occurs in pure form and is not associated with germ cell neoplasia in situ. It affects young children and is the most frequently seen testicular neoplasm in prepubertal children.|NCI|N|
C5784900|A rare trophoblastic neoplasm that arises in metastatic sites of testicular mixed germ cell tumors following chemotherapy, or is part of treated or untreated testicular mixed germ cell tumors, or is secondary to either chemotherapy-induced or spontaneous regression of testicular choriocarcinoma. It is characterized by the presence of cysts lined by squamoid trophoblastic cells. The cysts are often compressed surrounded by other germ cell components.|NCI|N|
C5784901|A testicular teratoma that is not associated with germ cell neoplasia in situ or chromosome 12p amplification.|NCI|N|
C5784905|A very rare testicular germ cell tumor that combines teratoma and yolk sac tumor. It usually affects young children. It is not associated with chromosome 12p amplification or germ cell neoplasia in situ.|NCI|N|
C5784906|A rare, benign, well-circumscribed tumor that arises from the testis. It is characterized by the presence of fascicles of spindle cells showing muscle cell differentiation. It lacks sex cord differentiation.|NCI|N|
C5784909|An exceedingly rare carcinoma with squamous differentiation arising from the epididymis.|NCI|N|
C5784910|A rare, indolent, usually solitary mesothelial neoplasm that arises from the tunica vaginalis. It is characterized by the presence of a papillary architecture in which the papillae are lined by cuboidal mesothelial cells. Mitotic figures are usually absent. Stromal invasion is absent or minimal. It usually manifests with a hydrocele and less frequently scrotal mass.|NCI|N|
C5784911|A benign, borderline, or malignant epithelial neoplasm that arises from the paratesticular structures.|NCI|N|
C5784912|A rare serous cystadenoma that arises from the paratesticular structures.|NCI|N|
C5784913|A rare, non-invasive, serous cystic tumor that arises from the paratesticular structures. It is characterized by the presence of irregular papillary formations with irregular branching. The papillae are lined by atypical columnar epithelial cells with eosinophilic cytoplasm. Mitoses are rare. Metastases have not been reported.|NCI|N|
C5784914|A rare serous cystadenocarcinoma that arises from the paratesticular structures.|NCI|N|
C5784915|A rare mucinous cystadenoma that arises from the paratesticular structures.|NCI|N|
C5784916|A rare, non-invasive, mucinous cystic tumor that arises from the paratesticular structures. It is characterized by the presence of irregular papillary formations with irregular branching. The papillae are lined by atypical mucinous epithelial cells. Metastases have not been reported.|NCI|N|
C5784917|A rare mucinous cystadenocarcinoma that arises from the paratesticular structures.|NCI|N|
C5784918|A carcinoma that arises from the paratesticular structures.|NCI|N|
C5784919|A carcinoma that arises from the seminal vesicle.|NCI|N|
C5784920|Invasive pulmonary aspergillosis that is resistant to treatment.|NCI|N|
C5784921|An immunohistochemical finding indicating that less than 50 percent of the cells in a sample are expressing PD-L1.|NCI|N|
C5784922|A response indicating that an individual did not experience something.|NCI|N|
C5784924|A response indicating that an individual''s experience with something was bad.|NCI|N|
C5784925|A response indicating that an individual''s experience with something was very bad.|NCI|N|
C5784928|A neoplasm that arises from the paratesticular structures and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C5784929|A group of very rare tumors with endometrioid epithelial differentiation arising from the paratesticular structures. It includes benign tumors, borderline tumors (tumors with atypical epithelial proliferation), and malignant tumors (endometrioid adenocarcinomas).|NCI|N|
C5784930|An exceedingly rare adenocarcinoma that arises from the paratesticular structures. It is characterized by the presence of columnar, hobnail, and polygonal cells with clear cytoplasm.|NCI|N|
C5784932|A mesothelial neoplasm that arises from the paratesticular structures. It includes adenomatoid tumor, well differentiated papillary mesothelial tumor, and malignant mesothelioma.|NCI|N|
C5784948|A change in the nucleotide sequence of the ALDH2 gene.|NCI|N|
C5784949|A variation in the amino acid sequence for aldehyde dehydrogenase, mitochondrial protein.|NCI|N|
C5784950|A nucleotide substitution at position 1510 of the coding sequence of the ALDH2 gene where guanine has been mutated to adenine.|NCI|N|
C5784951|A change in the amino acid residue at position 504 in aldehyde dehydrogenase, mitochondrial protein where glutamic acid has been replaced by lysine.|NCI|N|
C5784968|A finding indicating a decrease in the amount of HLA class I panel reactive antibodies in a blood or serum sample when compared to a previously collected sample.|NCI|N|
C5784974|Gastric adenocarcinoma that is amenable to surgical resection.|NCI|N|
C5784975|Gastroesophageal junction adenocarcinoma that is amenable to surgical resection.|NCI|N|
C5784981|Estrogen receptor-positive breast carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5784982|Estrogen receptor-positive breast carcinoma that is not amenable to surgical resection.|NCI|N|
C5784983|Estrogen receptor-positive breast carcinoma that has spread from its original site of growth to nearby tissues or lymph nodes.|NCI|N|
C5784986|Hepatoblastoma that has spread from its original site of growth to another anatomic site.|NCI|N|
C5784991|A human papillomavirus-related benign neoplasm affecting the penis. Most often it arises from the glans penis in young men. It usually presents with a nodular wart. Morphologically, it is characterized by an exophytic papillary proliferation of squamous cells and acanthosis. Most cases either resolve spontaneously or do not recur following removal.|NCI|N|
C5784992|A penile squamous cell carcinoma characterized by the absence of special morphologic features and lack of information on p16 immunohistochemistry and human papilloma virus testing status.|NCI|N|
C5784993|An extremely rare carcinoma that arises from the penis and is characterized by the presence of mucinous and squamous components.|NCI|N|
C5785000|The age of an individual when an event or observation was reported.|NCI|N|
C5785016|The age of an individual when the image was acquired.|NCI|N|
C5785017|The age of an individual when the laboratory test was conducted.|NCI|N|
C5785018|The age of an individual when a diagnosis and staging was reported.|NCI|N|
C5785019|The age of an individual when a diagnosis and staging of prostate cancer was reported.|NCI|N|
C5785020|The age of an individual when the androgen deprivation therapy was initiated.|NCI|N|
C5785021|The age of an individual when the charge was reported.|NCI|N|
C5785022|The age of an individual when the function test result was reported.|NCI|N|
C5785023|The age of an individual when the immunotherapy was initiated.|NCI|N|
C5785024|The age of an individual when the interventional procedure was reported.|NCI|N|
C5785025|The age of an individual when the patient encounter was reported.|NCI|N|
C5785026|The age of an individual when the patient reported outcome was recorded.|NCI|N|
C5785027|The age of an individual when the patient treatment outcome was reported.|NCI|N|
C5785028|The age of an individual when the performance score was reported.|NCI|N|
C5785029|The age of an individual when the provider reported toxicity was recorded.|NCI|N|
C5785030|The age of an individual when the radiation therapy course was reported.|NCI|N|
C5785031|The age of an individual when the radiation therapy course event was reported.|NCI|N|
C5785032|The age of an individual when the radiation therapy course session was reported.|NCI|N|
C5785033|The age of an individual when the radiation therapy prescription was reported.|NCI|N|
C5785034|The age of an individual when the reirradiation evaluation was reported.|NCI|N|
C5785035|The age of an individual when the supportive medication was reported.|NCI|N|
C5785036|The age of an individual when the systemic therapy course was reported.|NCI|N|
C5785037|The age of an individual when the systemic therapy cycle was reported.|NCI|N|
C5785038|The age of an individual when the treated field in treated radiation therapy plan fraction was reported.|NCI|N|
C5785039|The age of an individual when the treated radiation therapy plan was reported.|NCI|N|
C5785077|A response indicating that chemotherapy was completed.|NCI|N|
C5785078|A response indicating that chemotherapy was started but not completed.|NCI|N|
C5785079|A response indicating that an individual has had their prostate surgically removed.|NCI|N|
C5785080|An indication that imaging was not performed.|NCI|N|
C5785081|An indication that no recurrence of metastatic disease was found at a distant site.|NCI|N|
C5785082|An indication that no recurrence of disease was found in the lymph nodes.|NCI|N|
C5785083|An indication that no recurrence of disease was found at the site of the primary lesion.|NCI|N|
C5785084|An indication that no toxicity assessment was not performed or recorded.|NCI|N|
C5785085|The individual speaks a language other than those listed.|NCI|N|
C5785086|Public health insurance from a provider other than those listed.|NCI|N|
C5785087|The response to a question from a patient-reported outcome measure.|NCI|N|
C5785088|A particular plan that is treated within a specified session for a course of radiation therapy.|NCI|N|
C5785089|A response that radiation therapy was used for palliation.|NCI|N|
C5785090|A response that radiation therapy was used as supportive treatment.|NCI|N|
C5785091|A response indicating that staging was determined at least in part by imaging.|NCI|N|
C5785173|A recurrence of disease in distant lymph nodes.|NCI|N|
C5785174|A recurrence of high volume metastatic disease as defined by the CHAARTED Study (Chemohormonal Therapy Versus Androgen Ablation Randomized Trial for Extensive Disease in Prostate Cancer) as four or more bone metastases with at least one outside the axial skeleton, or the presence of visceral metastases.|NCI|N|
C5785175|A recurrence of low volume metastatic disease as defined by the CHAARTED Study (Chemohormonal Therapy Versus Androgen Ablation Randomized Trial for Extensive Disease in Prostate Cancer) as less than four bone metastases.|NCI|N|
C5785176|A recurrence of disease at the site of the primary prostatic lesion.|NCI|N|
C5785177|A recurrence of disease at the site of the primary lesion in the seminal vesicles.|NCI|N|
C5785227|The return of a disease after a period of remission in a lymph node.|NCI|N|
C5785259|A score from 0 to 1 that is calculated from a proprietary genetic test that evaluates the risk of clinical metastasis and cancer-specific mortality in prostate cancer. A score of less than 0.45 indicates a low risk while a score greater than 0.6 indicates a higher risk.|NCI|N|
C5785285|A recurrence of disease in the paraaortic lymph nodes.|NCI|N|
C5785286|A recurrence of disease in the pelvic lymph nodes.|NCI|N|
C5785307|Patient died during course of treatment.|NCI|N|
C5785308|Patient was transferred to different institution while undergoing treatment.|NCI|N|
C5785309|The course of radiation was altered due to toxicity from the treatment.|NCI|N|
C5785310|Treatment was paused due to a reason other than a toxicity.|NCI|N|
C5785311|Treatment was paused due to a toxicity.|NCI|N|
C5785312|Treatment was missed due to patient being unable to get dependent care while receiving therapy.|NCI|N|
C5785313|Treatment was missed due to patient being unable to get time off from work.|NCI|N|
C5785314|Treatment was missed due to patient being unable to get transportation to therapy site.|NCI|N|
C5785331|An impairment that causes an individual to require assistance with living by themselves.|NCI|N|
C5785332|An impairment that causes an individual to require assistance with caring for themselves.|NCI|N|
C5785333|The determination of the presence of actual or potential neoplastic tissue proximal to the prostatectomy specimen.|NCI|N|
C5785338|The HEART score, similar to an ECOG Performance Status scoring system, would establish standard criteria for measuring whether the patient is at high risk for experiencing health care disparities during their course of radiation therapy treatment and follow up. A HEART score that meets a specific threshold would trigger a HEART payment modifier that will be appended to the Start of Episode claim, generating an additional payment for wraparound services to address health care disparities that are currently not billable.|NCI|N|
C5785339|The reemergence of muscle invasive bladder urothelial carcinoma after a period of remission.|NCI|N|
C5785340|A bladder urothelial carcinoma that is confined to the site in which it initially manifested without evidence of spread to other anatomic sites, and has not invaded the bladder muscularis propria.|NCI|N|
C5785350|A finding indicating that elevated concentrations of alpha-fetoprotein (AFP) fraction L3 (AFP-L3) were detected in a sample. AFP-L3 represents a glycoform variant of AFP that is highly reactive with Lens culinaris-expressed agglutinin (LCA) due to the presence of an extra alpha-(1-6) fucose attached to the N-acetylglucosamine modification present in AFP.|NCI|N|
C5785363|The spread of a malignant neoplasm to the male or female reproductive system from an adjacent or distant anatomic site.|NCI|N|
C5785364|The spread of a malignant neoplasm to the male reproductive system from an adjacent or distant anatomic site.|NCI|N|
C5785365|The spread of a malignant neoplasm to the female reproductive system from an adjacent or distant anatomic site.|NCI|N|
C5785366|A hereditary neoplastic syndrome characterized by germline mutations of homologous recombination (HR) pathway genes. It is associated with an increased risk of developing various malignancies including breast, ovarian, pancreatic, and prostate carcinoma, and melanoma.|NCI|N|
C5785367|A malignant solid neoplasm with an annual incidence of less than 6 per 100,000 people.|NCI|N|
C5785370|A rare malignant solid neoplasm that is resistant to treatment.|NCI|N|
C5785371|A rare malignant solid neoplasm that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5785387|A carcinoma that arises from the base of the skull.|NCI|N|
C5785388|The reemergence of skull base carcinoma after a period of remission.|NCI|N|
C5785398|Digestive system neuroendocrine tumor G3 that has spread from its original site of growth to another anatomic site.|NCI|N|
C5785402|Digestive system neuroendocrine tumor G3 that has spread from its original site of growth to nearby tissues or lymph nodes.|NCI|N|
C5785410|Pancreatic neuroendocrine tumor G3 that has spread from its original site of growth to nearby tissues or lymph nodes.|NCI|N|
C5785414|Panreatic neuroendocrine tumor G3 that has spread from its original site of growth to another anatomic site.|NCI|N|
C5785415|A nucleotide substitution at position 1100 of the coding sequence of the HSD3B1 gene where cytosine has been mutated to adenine.|NCI|N|
C5785416|A change in the amino acid residue at position 367 in the 3 beta-hydroxysteroid dehydrogenase/Delta 5->4-isomerase type 1 protein where threonine has been replaced by asparagine.|NCI|N|
C5785417|Digestive system neuroendocrine tumor G3 that is not amenable to surgical resection.|NCI|N|
C5785418|Pancreatic neuroendocrine tumor G3 that is not amenable to surgical resection.|NCI|N|
C5785419|An indication that the ratio of fluorescence in situ hybridization (FISH) signals for the MET gene versus the chromosome 7 centromere marker CEP7 is greater than or equal to 4. This result implies MET gene amplification is present.|NCI|N|
C5785420|Lung neuroendocrine carcinoma that has spread from its original site of growth to another anatomic site.|NCI|N|
C5785421|Lung neuroendocrine carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.|NCI|N|
C5785422|Lung neuroendocrine carcinoma that has spread from its original site of growth to nearby tissues or lymph nodes.|NCI|N|
C5785456|The reemergence of hormone receptor-negative breast carcinoma after a period of remission.|NCI|N|
C5785457|Hormone receptor-negative breast carcinoma that is resistant to treatment.|NCI|N|
C5785458|Microsatellite stable colorectal carcinoma that is not amenable to surgical resection.|NCI|N|
C5785607|An original response associated with the Tanner Scale Girl TANN0101 clinical classification question.|NCI|N|
C5785608|A standardized character response associated with the Tanner Scale Girl TANN0101 clinical classification questions.|NCI|N|
C5785609|An original response associated with the Tanner Scale Girl TANN0102 clinical classification question.|NCI|N|
C5785610|A standardized character response associated with the Tanner Scale Girl TANN0102 clinical classification questions.|NCI|N|
C5785611|An original response associated with the Tanner Scale Boy TANN0201 clinical classification question.|NCI|N|
C5785612|A standardized character response associated with the Tanner Scale Boy TANN0201 clinical classification questions.|NCI|N|
C5785613|An original response associated with the Tanner Scale Boy TANN0202 clinical classification question.|NCI|N|
C5785614|A standardized character response associated with the Tanner Scale Boy TANN0202 clinical classification questions.|NCI|N|
C5785624|A change in the nucleotide sequence of a gene involved in messenger RNA splicing.|NCI|N|
C5785625|A change in the nucleotide sequence of a gene involved in messenger RNA splicing other than SF3B1.|NCI|N|
C5785626|Tanner Scale Girl TANN0101 Original Result - Stage 1: Pre-adolescent; elevation of papilla only.|NCI|N|
C5785627|Tanner Scale Girl TANN0101 Original Result - Stage 2: Breast bud stage; elevation of breast and papilla as a small mound, enlargement of areola diameter.|NCI|N|
C5785628|Tanner Scale Girl TANN0101 Original Result - Stage 3: Further enlargement of breast and areola, with no separation of their contours.|NCI|N|
C5785629|Tanner Scale Girl TANN0101 Original Result - Stage 4: Projection of areola and papilla to form a secondary mound above the level of the breast.|NCI|N|
C5785630|Tanner Scale Girl TANN0101 Original Result - Stage 5: Mature stage; projection of papilla only, due to recession of the areola to the general contour of the breast.|NCI|N|
C5785631|Tanner Scale Girl TANN0101 Standardized Character Result Stage 1 - Stage 1: Pre-adolescent; elevation of papilla only.|NCI|N|
C5785632|Tanner Scale Girl TANN0101 Standardized Character Result Stage 2 - Stage 2: Breast bud stage; elevation of breast and papilla as a small mound, enlargement of areola diameter.|NCI|N|
C5785633|Tanner Scale Girl TANN0101 Standardized Character Result Stage 3 - Stage 3: Further enlargement of breast and areola, with no separation of their contours.|NCI|N|
C5785634|Tanner Scale Girl TANN0101 Standardized Character Result Stage 4 - Stage 4: Projection of areola and papilla to form a secondary mound above the level of the breast.|NCI|N|
C5785635|Tanner Scale Girl TANN0101 Standardized Character Result Stage 5 - Stage 5: Mature stage; projection of papilla only, due to recession of the areola to the general contour of the breast.|NCI|N|
C5785636|Tanner Scale Girl TANN0102 Original Result - Stage 1: Pre-adolescent; the vellus over the pubes is not further developed than that over the anterior abdominal wall, i.e. no pubic hair.|NCI|N|
C5785637|Tanner Scale Girl TANN0102 Original Result - Stage 2: Sparse growth of long, slightly pigmented, downy hair, straight or only slightly curled, appearing chiefly along the labia. This stage is difficult to see on photographs, particularly of fair-haired subjects. Though Stage 2 rating was used in this study, it cannot be regarded as reliable, and the ages at which subjects are said to have reached Stage 2 are almost certainly too late.|NCI|N|
C5785638|Tanner Scale Girl TANN0102 Original Result - Stage 3: Considerably darker, coarser, and more curled. The hair spreads sparsely over the junction of the pubes. This and subsequent stages were clearly recognizable on the photographs.|NCI|N|
C5785639|Tanner Scale Girl TANN0102 Original Result - Stage 4: Hair is now adult in type, but the area covered by it is still considerably smaller than in most adults. There is no spread to the medial surface of the thighs.|NCI|N|
C5785640|Tanner Scale Girl TANN0102 Original Result - Stage 5: Adult in quantity and type, distributed as an inverse triangle of the classically feminine pattern. Spread to the medial surface of the thighs, but not up the linea alba or elsewhere above the base of the inverse triangle.|NCI|N|
C5785641|Tanner Scale Girl TANN0102 Standardized Character Result Stage 1 - Stage 1: Pre-adolescent; the vellus over the pubes is not further developed than that over the anterior abdominal wall, i.e. no pubic hair.|NCI|N|
C5785642|Tanner Scale Girl TANN0102 Standardized Character Result Stage 2 - Stage 2: Sparse growth of long, slightly pigmented, downy hair, straight or only slightly curled, appearing chiefly along the labia. This stage is difficult to see on photographs, particularly of fair-haired subjects. Though Stage 2 rating was used in this study, it cannot be regarded as reliable, and the ages at which subjects are said to have reached Stage 2 are almost certainly too late.|NCI|N|
C5785643|Tanner Scale Girl TANN0102 Standardized Character Result Stage 3 - Stage 3: Considerably darker, coarser, and more curled. The hair spreads sparsely over the junction of the pubes. This and subsequent stages were clearly recognizable on the photographs.|NCI|N|
C5785644|Tanner Scale Girl TANN0102 Standardized Character Result Stage 4 - Stage 4: Hair is now adult in type, but the area covered by it is still considerably smaller than in most adults. There is no spread to the medial surface of the thighs.|NCI|N|
C5785645|Tanner Scale Girl TANN0102 Standardized Character Result Stage 5 - Stage 5: Adult in quantity and type, distributed as an inverse triangle of the classically feminine pattern. Spread to the medial surface of the thighs, but not up the linea alba or elsewhere above the base of the inverse triangle.|NCI|N|
C5785646|Tanner Scale Boy TANN0201 Original Result - Stage 1: Pre-adolescent. Testes, scrotum, and penis are of about the same size and proportion as in early childhood.|NCI|N|
C5785647|Tanner Scale Boy TANN0201 Original Result - Stage 2: The scrotum and testes have enlarged and there is a change in the texture of the scrotal skin. There is also some reddening of the scrotal skin but this cannot be detected on black and white photographs.|NCI|N|
C5785648|Tanner Scale Boy TANN0201 Original Result - Stage 3: Growth of the penis has occurred, at first mainly in length but with some increase in breadth. There has been further growth of testes and scrotum.|NCI|N|
C5785649|Tanner Scale Boy TANN0201 Original Result - Stage 4: Penis further enlarged in length and breadth with development of glans. Testes and scrotum further enlarged. There is also further darkening of the scrotal skin, but this is difficult to detect on photographs.|NCI|N|
C5785650|Tanner Scale Boy TANN0201 Original Result - Stage 5: Genitalia adult in size and shape. No further enlargement takes place after Stage 5 is reached.|NCI|N|
C5785651|Tanner Scale Boy TANN0201 Standardized Character Result Stage 1 - Stage 1: Pre-adolescent. Testes, scrotum, and penis are of about the same size and proportion as in early childhood.|NCI|N|
C5785652|Tanner Scale Boy TANN0201 Standardized Character Result Stage 2 - Stage 2: The scrotum and testes have enlarged and there is a change in the texture of the scrotal skin. There is also some reddening of the scrotal skin but this cannot be detected on black and white photographs.|NCI|N|
C5785653|Tanner Scale Boy TANN0201 Standardized Character Result Stage 3 - Stage 3: Growth of the penis has occurred, at first mainly in length but with some increase in breadth. There has been further growth of testes and scrotum.|NCI|N|
C5785654|Tanner Scale Boy TANN0201 Standardized Character Result Stage 4 - Stage 4: Penis further enlarged in length and breadth with development of glans. Testes and scrotum further enlarged. There is also further darkening of the scrotal skin, but this is difficult to detect on photographs.|NCI|N|
C5785655|Tanner Scale Boy TANN0201 Standardized Character Result Stage 5 - Stage 5: Genitalia adult in size and shape. No further enlargement takes place after Stage 5 is reached.|NCI|N|
C5785656|Tanner Scale Boy TANN0202 Original Result - Stage 1: Pre-adolescent. The velus over the pubes is no further developed than that over the abdominal wall, i.e. no pubic hair.|NCI|N|
C5785657|Tanner Scale Boy TANN0202 Original Result - Stage 2: Sparse growth of long, slightly pigmented, downy hair, straight or only slightly curled, appearing chiefly at the base of the penis. This stage is difficult to see on photographs, particularly of fair-haired subjects. Although the rating ''Stage 2'' was used in this study, it cannot be regarded as reliable, and the ages at which subjects are said to have reached Stage 2 are almost certainly too late.|NCI|N|
C5785658|Tanner Scale Boy TANN0202 Original Result - Stage 3: Considerably darker, coarser, and more curled. The hair spreads sparsely over the junction of the pubes. This and subsequent stages were clearly recognizable on the photographs.|NCI|N|
C5785659|Tanner Scale Boy TANN0202 Original Result - Stage 4: Hair is now adult in type, but the area covered by it is still considerably smaller than in most adults. There is no spread to the medial surface of the thighs.|NCI|N|
C5785660|Tanner Scale Boy TANN0202 Original Result - Stage 5: Adult in quantity and type, distributed as an inverse triangle of the classically feminine pattern. Spread to the medial surface of the thighs but not up the linea alba or elsewhere above the base of the inverse triangle.|NCI|N|
C5785661|Tanner Scale Boy TANN0202 Standardized Character Result Stage 1 - Stage 1: Pre-adolescent. The velus over the pubes is no further developed than that over the abdominal wall, i.e. no pubic hair.|NCI|N|
C5785662|Tanner Scale Boy TANN0202 Standardized Character Result Stage 2 - Stage 2: Sparse growth of long, slightly pigmented, downy hair, straight or only slightly curled, appearing chiefly at the base of the penis. This stage is difficult to see on photographs, particularly of fair-haired subjects. Although the rating ''Stage 2'' was used in this study, it cannot be regarded as reliable, and the ages at which subjects are said to have reached Stage 2 are almost certainly too late.|NCI|N|
C5785663|Tanner Scale Boy TANN0202 Standardized Character Result Stage 3 - Stage 3: Considerably darker, coarser, and more curled. The hair spreads sparsely over the junction of the pubes. This and subsequent stages were clearly recognizable on the photographs.|NCI|N|
C5785664|Tanner Scale Boy TANN0202 Standardized Character Result Stage 4 - Stage 4: Hair is now adult in type, but the area covered by it is still considerably smaller than in most adults. There is no spread to the medial surface of the thighs.|NCI|N|
C5785665|Tanner Scale Boy TANN0202 Standardized Character Result Stage 5 - Stage 5: Adult in quantity and type, distributed as an inverse triangle of the classically feminine pattern. Spread to the medial surface of the thighs but not up the linea alba or elsewhere above the base of the inverse triangle.|NCI|N|
C5785714|National Early Warning Score 2 Total score used for analysis.|NCI|N|
C5785715|National Early Warning Score 2 Trigger used for analysis.|NCI|N|
C5785717|Problem associated with persistent blood flow/pressure in the aneurysm sac following an endovascular aneurysm repair (EVAR) procedure.|NCI|N|
C5785718|Problems associated with threads that are damaged either prior to use due to bad threading or repeated re-use (possibly with other damaged components) or threads that became stripped or damaged while being used.|NCI|N|
C5785719|A device found in back-up mode. This may be an appropriate fail-safe action (e.g. end of battery life), or be caused by device malfunction or due to operator error.|NCI|N|
C5785722|Undesirable presence of endogenous substances, body fluids, cellular tissues, etc.|NCI|N|
C5785723|Malfunction that resulted from a device memory corruption, including bit flips or single event errors.|NCI|N|
C5785724|Problems that occurred due to an obstruction or blockage.|NCI|N|
C5785725|Problems that occur related to the use of non-validated controls.|NCI|N|
C5785726|Malfunction was verified but no conclusive finding is available.|NCI|N|
C5785727|Problem is traced to be caused by another device.|NCI|N|
C5785738|The reemergence of acute myeloid leukemia with MLL rearrangement after a period of remission.|NCI|N|
C5785739|A finding of acute myeloid leukemia with MLL rearrangement that is not growing and responds to treatment.|NCI|N|
C5785740|The reemergence of acute panmyelosis with myelofibrosis after a period of remission.|NCI|N|
C5785741|The reemergence of atypical chronic myeloid leukemia, BCR-ABL1 negative after a period of remission.|NCI|N|
C5785742|A finding of atypical chronic myeloid leukemia, BCR-ABL1 negative that is not growing and responds to treatment.|NCI|N|
C5785743|The reemergence of extraosseous plasmacytoma after a period of remission.|NCI|N|
C5785744|A finding of extraosseous plasmacytoma that is not growing and responds to treatment.|NCI|N|
C5785745|Gastrointestinal stromal tumor that arises from the rectum.|NCI|N|
C5785746|The reemergence of juvenile myelomonocytic leukemia after a period of remission.|NCI|N|
C5785747|The reemergence of lymphoid leukemia after a period of remission.|NCI|N|
C5785748|The reemergence of mast cell leukemia after a period of remission.|NCI|N|
C5785749|A finding of Burkitt leukemia that is not growing and responds to treatment.|NCI|N|
C5785750|The reemergence of acute monocytic leukemia after a period of remission.|NCI|N|
C5785751|The reemergence of myeloid leukemia after a period of remission.|NCI|N|
C5785752|The reemergence of myeloid sarcoma after a period of remission.|NCI|N|
C5785753|The reemergence of plasma cell leukemia after a period of remission.|NCI|N|
C5785754|The reemergence of solitary plasmacytoma after a period of remission.|NCI|N|
C5785755|A finding of plasma cell neoplasm that is not growing and responds to treatment.|NCI|N|
C5785757|The accidental removal of a previously inserted line from a blood vessel.|NCI|N|
C5785761|Merkel cell carcinoma that is amenable to surgical resection.|NCI|N|
C5785764|Malignant phyllodes tumor that is resistant to treatment.|NCI|N|
C5785766|Angiosarcoma that is resistant to treatment.|NCI|N|
C5785767|Solitary fibrous tumor that is resistant to treatment.|NCI|N|
C5785768|PEComa that is resistant to treatment.|NCI|N|
C5785769|Pleomorphic liposarcoma that is resistant to treatment.|NCI|N|
C5785774|Any persistent problem with walking, gait or maintaining posture (sitting, standing).|NCI|N|
C5786686|An aggressive osteosarcoma with high-grade morphological features. This category includes high-grade surface osteosarcoma and conventional osteosarcoma.|NCI|N|
C5786687|An osteosarcoma with intermediate-grade morphological features. A representative example is periosteal osteosarcoma.|NCI|N|
C5786688|An osteosarcoma with low-grade morphological features. This category includes parosteal osteosarcoma and low-grade central osteosarcoma.|NCI|N|
C5786692|Lung squamous cell carcinoma that has spread to nearly tissues or lymph nodes.|NCI|N|
C5786709|The age of an individual at the disease phase.|NCI|N|
C5786716|PRETEX I hepatoblastoma confined to the liver including regional lymph nodes. (Childhood cancer staging for population registries according to the Toronto Childhood Cancer Stage Guidelines - Version 2. Cancer Council Queensland and Cancer Australia: Brisbane, Australia; 2021.)|NCI|N|
C5786717|PRETEX II hepatoblastoma confined to the liver including regional lymph nodes. (Childhood cancer staging for population registries according to the Toronto Childhood Cancer Stage Guidelines - Version 2. Cancer Council Queensland and Cancer Australia: Brisbane, Australia; 2021.)|NCI|N|
C5786718|PRETEX III hepatoblastoma confined to the liver including regional lymph nodes. (Childhood cancer staging for population registries according to the Toronto Childhood Cancer Stage Guidelines - Version 2. Cancer Council Queensland and Cancer Australia: Brisbane, Australia; 2021.)|NCI|N|
C5786719|PRETEX IV hepatoblastoma confined to the liver including regional lymph nodes. (Childhood cancer staging for population registries according to the Toronto Childhood Cancer Stage Guidelines - Version 2. Cancer Council Queensland and Cancer Australia: Brisbane, Australia; 2021.)|NCI|N|
C5786720|PRETEX I hepatoblastoma with distant metastases. (Childhood cancer staging for population registries according to the Toronto Childhood Cancer Stage Guidelines - Version 2. Cancer Council Queensland and Cancer Australia: Brisbane, Australia; 2021.)|NCI|N|
C5786721|PRETEX II hepatoblastoma with distant metastases. (Childhood cancer staging for population registries according to the Toronto Childhood Cancer Stage Guidelines - Version 2. Cancer Council Queensland and Cancer Australia: Brisbane, Australia; 2021.)|NCI|N|
C5786722|PRETEX III hepatoblastoma with distant metastases. (Childhood cancer staging for population registries according to the Toronto Childhood Cancer Stage Guidelines - Version 2. Cancer Council Queensland and Cancer Australia: Brisbane, Australia; 2021.)|NCI|N|
C5786723|PRETEX IV hepatoblastoma with distant metastases. (Childhood cancer staging for population registries according to the Toronto Childhood Cancer Stage Guidelines - Version 2. Cancer Council Queensland and Cancer Australia: Brisbane, Australia; 2021.)|NCI|N|
C5786735|A finding indicating the presence of leukemic cells in the central nervous system and/or cerebrospinal fluid.|NCI|N|
C5786739|A finding indicating the presence of leukemic blasts in the cerebrospinal fluid and absence of central nervous system clinical symptoms.|NCI|N|
C5786740|A finding indicating the presence of leukemic blasts in the cerebrospinal fluid and presence of central nervous system clinical symptoms.|NCI|N|
C5786790|Age of subject at the last known exposure to a hazardous factor or substance.|NCI|N|
C5786795|The clinical or laboratory test result that was the basis for a progressive disease finding.|NCI|N|
C5786824|A response indicating that an individual has or had a decrease in salary as a result of missing work.|NCI|N|
C5786825|A response indicating that an individual has or had a reduction in working hours per week.|NCI|N|
C5786827|A response indicating that an individual has or had limited career advancement or salary increase.|NCI|N|
C5786828|A response indicating that an individual can''t work because of their health problems.|NCI|N|
C5786829|A morphological finding indicating the minimum depth of tumor invasion into the submucosal tissue.|NCI|N|
C5786845|The reemergence of oral cavity squamous cell carcinoma after a period of remission, at or adjacent to the site of the original tumor.|NCI|N|
C5786846|The reemergence of oropharyngeal squamous cell carcinoma after a period of remission, at or adjacent to the site of the original tumor.|NCI|N|
C5786849|The reemergence of laryngeal squamous cell carcinoma after a period of remission, at or adjacent to the site of the original tumor.|NCI|N|
C5786851|The reemergence of hypopharyngeal squamous cell carcinoma after a period of remission, at or adjacent to the site of the original tumor.|NCI|N|
C5786947|The subject or patient has been admitted as an inpatient to a hospice facility.|NCI|N|
C5787065|A pregnancy result for a female that had one to many live births.|NCI|N|
C5787067|A designation that subjects within the trial set had samples collected to support toxicokinetic analysis.|NCI|N|
C5787068|A designation that subjects within the trial set did not have samples collected to support toxicokinetic analysis.|NCI|N|
C5787101|A malignant germ cell tumor that arises from the ovary and has spread to another anatomic site.|NCI|N|
C5787153|A neuroblastoma that arises from the brain during childhood.|NCI|N|
C5787154|A ganglioneuroblastoma that arises from the brain and occurs during childhood.|NCI|N|
C5787159|A molecular genetic abnormality indicating the presence of multiple copies of the KMT2A gene.|NCI|N|
C5787164|Any outcomes, consequences or results associated with chromosomal abnormalities detected during cytogenetic testing.|NCI|N|
C5787169|The deletion of both alleles of a gene.|NCI|N|
C5787173|An unusual variant of acinar prostate adenocarcinoma characterized by the presence of neoplastic small atrophic glands that contain malignant cells with scant cytoplasm.|NCI|N|
C5787174|Acinar prostate adenocarcinoma characterized by the presence of neoplastic large glands that resemble the benign, non-neoplastic prostate glands.|NCI|N|
C5787175|An exceptionally rare acinar prostate adenocarcinoma characterized by the presence of malignant large cells with granular eosinophilic cytoplasm.|NCI|N|
C5787176|Acinar prostate adenocarcinoma characterized by the presence of malignant cells forming syncytial patterns and dense lymphocytic infiltrates.|NCI|N|
C5787178|A morphologic finding indicating the presence of more than five mitotic figures per fifty high power fields in a cellular infiltrate.|NCI|N|
C5787186|A mesothelial neoplasm that arises from the pleura. It includes adenomatoid tumor, well differentiated papillary mesothelial tumor, and malignant mesothelioma.|NCI|N|
C5787187|A regional lymph node TNM finding indicating that there is no evidence of regional lymph node metastasis histologically, and immunohistochemistry is negative.|NCI|N|
C5787188|A regional lymph node TNM finding indicating that there are malignant cells in regional lymph node(s) no greater than 0.2 mm and are detected by hematoxylin and eosin stain or immunohistochemistry.|NCI|N|
C5787189|A regional lymph node TNM finding indicating that there is no evidence of regional lymph node metastasis histologically and molecular analysis (RT-PCR) is negative.|NCI|N|
C5787190|A regional lymph node TNM finding indicating that there is no evidence of regional lymph node metastasis histologically and by immunohistochemistry, but the molecular analysis (RT-PCR) is positive.|NCI|N|
C5787191|A distant metastasis TNM finding indicating that there is no evidence of distant metastasis clinically or by radiologic studies, but there are small numbers of cells detected by special studies in the blood and bone marrow, or there is tiny metastasis (no larger than 0.2 mm) detected in nonregional lymph nodes.|NCI|N|
C5787221|A neuroendocrine tumor that arises from the appendix during childhood. It is usually located in the tip of the appendix. The vast majority of cases are grade 1 neuroendocrine tumors.|NCI|N|
C5787222|A benign or malignant neoplasm arising from the epithelial cells of an endocrine organ during childhood.|NCI|N|
C5787223|A neuroendocrine neoplasm that occurs during childhood.|NCI|N|
C5787226|A benign, intermediate, or malignant neoplasm that affects the skin and occurs during childhood.|NCI|N|
C5787230|A pigmented spindle cell nevus that occurs during childhood.|NCI|N|
C5787235|A childhood neoplasm that arises from bone and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.|NCI|N|
C5787251|A B acute lymphoblastic leukemia that occurs in patients with Down syndrome. It usually affects young children, but it can occur in adults as well. It has an unfavorable clinical outcome. Cases of T acute lymphoblastic leukemia in patients with Down syndrome have not been reported.|NCI|N|
C5787253|The return of a disease after a period of remission, as determined by clinical signs and symptoms.|NCI|N|
C5787268|A nucleotide substitution at position 2846 of the coding sequence of the DPYD gene where adenine has been mutated to thymine.|NCI|N|
C5787271|A rare subtype of prostate acinar adenocarcinoma that morphologically resembles high-grade prostatic intraepithelial neoplasia. It is characterized by the presence of large malignant glands lined with pseudostratified epithelium. It is graded as Gleason score 3+3=6.|NCI|N|
C5787290|Acinar prostate adenocarcinoma characterized by the presence of malignant cells with abundant xanthomatous appearing cytoplasm.|NCI|N|
C5787291|Acinar adenocarcinoma of the prostate gland characterized by the presence of malignant cells with intracytoplasmic vacuoles that displace the nucleus to the periphery of the cell.|NCI|N|
C5787301|An approximation of the prior treatment plan created by applying the current structure set.|NCI|N|
C5787307|The score obtained from conducting a performance status scale.|NCI|N|
C5787311|The spread of a malignant neoplasm to the genitourinary system from an adjacent or distant anatomic site.|NCI|N|
C5787312|The reemergence of endometrial carcinoma after a period of remission, at or adjacent to the site of the original tumor.|NCI|N|
C5787314|Psoriasis Area and Severity Index Feldman Version (PASI Feldman Version) Upper Extremities: Desquamation/Scaling symptom score.|NCI|N|
C5787319|Colorectal adenocarcinoma that has spread from its original site of growth to nearby tissues or lymph nodes.|NCI|N|
C5787326|Problems traced to device performing inadequately or inconsistently in people with certain equality characteristics (e.g. sex, racial or ethnic origin).|NCI|N|
C5787329|Psoriasis Area and Severity Index European Medical Agency Version (PASI EMA Version) Total sum.|NCI|N|
C5787334|Death caused by complications of a cardiovascular procedure in a patient with probable or confirmed acute COVID-19.|NCI|N|
C5787641|Oral intake of foods prepared by restaurants and retail establishments.|SNOMEDCT_US|N|
C5787642|Providing nourishment to an infant partially from breastmilk, including expressed parent''s or donor breastmilk, with additional nourishment from infant formula and other sources.|SNOMEDCT_US|N|
C5787644|The standard deviation score for the density of bone compared with a relevant standard.|SNOMEDCT_US|N|
C5787780|Perception is the process by which one forms a mental representation of some internal or external stimulus. Inputs to the normative perceptual process are signals generated as an output of a sensory process i.e., signals transmitted to the brain following transduction of the stimulus into neural signal. In some cases, such as hallucination, perception occurs in the absence of a stimulus and the corresponding sensory transduction.|SNOMEDCT_US|N|
C5787841|Caregiver''s food and/or nutrition belief that is believed to be of prime importance for the subject''s nutrition.|SNOMEDCT_US|N|
C5787842|Food and/or nutrition belief that is believed to be of prime importance for the individual.|SNOMEDCT_US|N|
C5787882|Diplopia due to convergence spasm in the absence of any neurological disease cause.|SNOMEDCT_US|N|
C5787999|A rare genetic bone disease with characteristics of multifocal, painless, benign fibro-cemento-osseous lesions of the jaw which expand progressively and can cause severe facial deformity. It usually manifests at an early age and is often associated with abnormalities of the long bones and pathologic fractures. Radiologically, the lesions are of mixed radiopaque/radiolucent appearance. Incomplete surgical removal may lead to more rapid growth of the residual lesion.|SNOMEDCT_US|N|
C5788075|Neuronal necrosis which develops several months or years following the start of therapeutic cranial irradiation.|SNOMEDCT_US|N|
C5788228|A rare cardiac condition characterised by acute severe right ventricular failure with subsequent haemodynamic instability following a cardiac surgical procedure. Predisposing factors include suboptimal myocardial protection during surgery, long cardiopulmonary bypass time, right ventricular myocardial ischaemia or infarction, atrial arrhythmias, reperfusion lung injury with secondary pulmonary hypertension, post-operative pulmonary micro or macro embolism and pre-existing pulmonary vascular disease among others.|SNOMEDCT_US|N|
C5788229|A rare viral disease characterised by invasive and/or disseminated adenovirus infection in immunocompromised patients, either acquired de novo or arising from reactivation of persistent latent infection. The clinical picture comprises a wide range of manifestations including pneumonia, colitis, hepatitis, haemorrhagic cystitis, tubulointerstitial nephritis, encephalitis, and disseminated disease among others. Severity varies with age and immune status and life-threatening courses may occur.|SNOMEDCT_US|N|
C5788467|The route is not appropriate for medical reasons or the patient expresses a dislike or discomfort with the route of administration.|SNOMEDCT_US|N|
C5788996|An artificial lens is implanted without removing a person''s natural lens.|SNOMEDCT_US|N|
C5816683|A rare ectodermal dysplasia syndrome with characteristics of hypotrichosis, tooth enamel hypoplasia, hypoplastic nails, palmoplantar keratoderma, hyperhidrosis on hands, face, and scalp, bilateral partial cutaneous syndactyly and dysmorphic facial features with large prominent ear pinnae, pointed nose, and thin upper lips. Association of cardiomegaly has also been reported.|SNOMEDCT_US|N|
C5816684|A chromosomal disorder characterized by the presence of extra copy/copies of part of chromosome 18.|MONDO|N|
C5816687|A rare developmental defect during embryogenesis with characteristics of unilateral duplication of an eye which may appear as a synophthalmia in a single orbit or as two separate unilateral eyes, each in a separate orbit. The malformation is always associated with other anomalies of the central nervous system (such as porencephaly, meningocele, or arachnoidal cysts) and with craniofacial abnormalities. A proboscis is often found. Clinically, moderate mental retardation and epilepsy are typical.|SNOMEDCT_US|N|
C5816710|A very rare form of composite dysraphism characterized by the presence of a split cord malformation and a myelomeningocele on one of the two hemicords. Hemicords can be in a single dural sac or in two separated dural sacs. Other spinal cord malformations can be associated. Due to the comparable prognosis it is considered as a subtype of myelomeningocele.|MONDO|N|
C5816713|A rare open neural tube defect characterized by no other malformation than myelomeningocele (spina bifida with a neural placode exposed at the top of a non-epidermised dysplasic meninges sac and Chiari II malformation).|MONDO|N|
C5816719|A rare closed spinal dysraphism characterized by myelocystocele located above the conus region. Also considered as a form of saccular limited dorsal myeloschisis.|MONDO|N|
C5816782|A rare developmental defect during embryogenesis characterised by congenital absence of the optic nerve head, optic nerve fibres, retinal ganglion cells and retinal blood vessels in a malformed eye. It often occurs unilaterally with otherwise normal brain development. In bilateral cases it is accompanied by other central nervous system malformations.|SNOMEDCT_US|N|
C5816793|Disorders caused by transcriptional silencing of one parental gene allele (imprinted gene). Imprinted genes show genetic expression from only one parent of the gene pair through epigenetic processes with no change in the DNA sequence.|MSH|N|
C5816873|An epileptic seizure with impaired awareness occurring at any point within the seizure, defined as impairment of knowledge of self and environment, regardless of whether focal, generalised or unknown onset, and whether motor or nonmotor.|SNOMEDCT_US|N|
C5816884|A type of epilepsy with both generalized and focal onset epileptic seizures.|SNOMEDCT_US|N|
C5816885|Epilepsy with only generalized onset epileptic seizures and generalized spike-wave, due to a genetic or presumed genetic etiology.|SNOMEDCT_US|N|
C5817154|A neoplasm considered precancerous and/or with high potential to become malignant. In solid organ neoplasms, the neoplasm has not broken through a basement membrane.|SNOMEDCT_US|N|
C5818022|The number of distinct, individual primary malignant gastrointestinal stromal sarcomas in a tissue specimen represented as either focal (single) or multifocal (multiple), and not as a discrete number.|SNOMEDCT_US|N|
C5818041|The number of distinct, individual primary malignant neoplasms in an esophagus specimen represented as either a single focus or multiple foci (counts) and not as a discrete number.|SNOMEDCT_US|N|
C5818066|Excessively rapid eating of food.|HPO|N|
C5818147|An epileptic seizure originating within networks limited to one hemisphere, in which the initial manifestation is non-motor (including autonomic, behaviour arrest, cognitive, emotional, or sensory onsets), with retained awareness (defined as knowledge of self and environment) throughout the entire duration of the seizure.|SNOMEDCT_US|N|
C5818148|An epileptic seizure originating within networks limited to one hemisphere, in which the initial manifestation is non-motor (including autonomic, behavior arrest, cognitive, emotional, or sensory onsets), with impaired awareness (defined as impairment of knowledge of self and environment) occurring at any point within the seizure.|SNOMEDCT_US|N|
C5818216|An epileptic seizure, regardless of focal or generalised onset, in which motor activity is not prominent at onset, and with impaired awareness occurring at any point within the seizure, defined as impairment of knowledge of self and environment.|SNOMEDCT_US|N|
C5818218|The number of distinct, individual primary malignant neoplasms in a pancreas specimen represented as either focal (single) or multifocal (multiple), and not as a discrete number.|SNOMEDCT_US|N|
C5818418|Relative amounts of neoplasm regression after antineoplastic neoadjuvant therapy.|SNOMEDCT_US|N|
C5818484|The relative lobular location of two or more intrapulmonary metastatic neoplasms of lung to each other such as contralateral, ipsilateral or intralobular.|SNOMEDCT_US|N|
C5818640|A rare genetic endocrine disorder with characteristics of type 1 diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs. Type 1 has onset in the first decade with diabetes mellitus and optic atrophy manifestations. 50% of patients also develop diabetes insipidus. Additional features may include urinary tract abnormalities, neurological involvement and psychiatric manifestations. Caused by caused by homozygous or compound heterozygous mutation in the gene encoding wolframin (WFS1) on chromosome 4p16. Transmission is autosomal recessive.|SNOMEDCT_US|N|
C5818641|A rare genetic endocrine disorder with characteristics of type 1 diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs. Type 2 patients present early with optic atrophy, diabetes mellitus, deafness and decreased lifespan but without diabetes insipidus. Caused by homozygous mutation in the CISD2 gene on chromosome 4q24. Transmission is autosomal recessive.|SNOMEDCT_US|N|
C5818748|Antidepressant withdrawal may last for 2-3 weeks but can transition into a protracted withdrawal syndrome (PWS), which can last many months or years.|SNOMEDCT_US|N|
C5826343|The concentration of corticotropin, also known as adrenocorticotropic hormone (ACTH), is below the lower limit of normal in the blood circulation.|HPO|N|
C5826344|The concentration of noradrenaline in the urine, normalized for urine concentration, is above the upper limit of normal.|HPO|N|
C5826346|Any structural anomaly of the synovium, which is a membrane that lines the cavity of synovial joints and consists of a lining layer of macrophage-like synoviocytes and fibroblast-like synoviocytes, as well as a sublining of connective tissue. Synovial cells are thought to contribute to joint homeostasis by secreting various factors such as hyaluronic acid and lubricin important for joint lubrication and function, as well as disposing of the waste products.|HPO|N|
C5826347|Concentration of a branched chain amino acid in the blood above the upper limit of normal.|HPO|N|
C5826349|The concentration of hypoxanthine in the urine, normalized for urine concentration, is above the upper limit of normal.|HPO|N|
C5826350|The concentration of SO3(2-), i.e., sulfite, in the urine, normalized for urine concentration, is above the upper limit of normal.|HPO|N|
C5826351|Concentration or activity of an enzyme is above or below the limits of normal in the blood circulation.|HPO|N|
C5826352|Increased concentration of dopamine in the cerebrospinal fluid (CSF).|HPO|N|
C5826353|Decreased concentration of dopamine in the cerebrospinal fluid (CSF).|HPO|N|
C5826354|Reduced ability of von Willebrand factor (vWF) to bind collagen. Abnormal response to collagen as manifested by reduced or lacking ability of plasma von WIllebrand Factor to bind collagen. An ELISA-based assay is typically used; the test is sensitive to loss of von Willebrand Factor high molecular weight multimers.|HPO|N|
C5826355|Absence of large von Willebrand Factor multimers on gel electrophoresis.|HPO|N|
C5826356|Lack of intermediate von Willebrand Factor multimers on gel electrophoresis.|HPO|N|
C5826357|The Esterman grid test assays scores visual acuity. The grid consists of 100 units whose unequal size and distribution reflect the unequal functional value of different parts of the field-in effect a weighted or relative-value scale. Because each unit equals 1 percent, a simple count of units yields the functional score in percent.|HPO|N|
C5826359|Anomalous staining of dystrophin in cardiomyocytes.|HPO|N|
C5826360|Repetition of sounds with no meaning.|HPO|N|
C5826361|A broad range of compulsive behaviors are repeated, including simple motor stereotypies and tics, as well as more complex repetitive movements or compulsions.|HPO|N|
C5826362|Abnormalities in the patterns of rhythm, stress, or intonation of speech or vocalization.|HPO|N|
C5826363|A speech pattern characterized by abnormal fluctuations in the pitch of the voice.|HPO|N|
C5826365|Any deviation from the normal concentration of mannose-binding protein in the blood circulation.|HPO|N|
C5826368|Neurofilament light chain (NfL) is a neuronal cytoplasmic protein highly expressed in large caliber myelinated axons. Its levels increase in cerebrospinal fluid (CSF) and blood proportionally to the degree of axonal damage in a variety of neurological disorders, including inflammatory, neurodegenerative, traumatic and cerebrovascular diseases.|HPO|N|
C5826369|Concentration of the complement component C6 in the blood circulation below the lower limit of normal.|HPO|N|
C5826370|An increased concentration of fumarate, an intermediate in the citric acid cycle, in the cebrebrospinal fluid.|HPO|N|
C5826373|Claw toes are characterized by hyperextension at the metatarsal-phalangeal joints and flexion of the interphalangeal joints.|HPO|N|
C5826374|Presence of hyphae (long, branching, filamentous structures produced by fungi) in sputum.|HPO|N|
C5826375|Increasaed size of the tectum, which is the region of the midbrain posterior to the cerebral aqueduct of Sylvius. The midbrain is the most superior portion of the brainstem.|HPO|N|
C5826377|Decreased concentration of 3-ketoacyl-CoA thiolase in th blood circulation.|HPO|N|
C5826378|A dark, keratotic papule about 2-10 mm in diameter, usually occuring on the lower extremeities. Usually the lesions begin as bright, soft, and nonkeratotic paules which grow larger and change to a firm, blue to black and keratotic stage.|HPO|N|
C5826379|A type of angiokeratoma that typically presents in childhood as a large, mostly linear and unilateral hyperkeratotic plaque which is composed of confluent keratotic papules. The size ranges from a few centimeters up to a major part of the body surface. Initially the lesions present asa multile reddish macules, clinically similar to a nevus flammeus. Within several years they develop into acanthokeratotic papules that agrregate into plaques which may have a hyperkeratotic surface.|HPO|N|
C5826380|Increased thickness of an oral frenulum, flaps of mucous membrane that extend from the midline gingiva to the upper or lower lip.|HPO|N|
C5826381|Laceration or tear of an oral frenulum, flaps of mucous membrane that extend from the midline gingiva to the upper or lower lip.|HPO|N|
C5826382|A wound of the mucosa within the oral cavity covering lips, tongue, palate, gingiva, pharynx, or retropharynx.|HPO|N|
C5826383|Breakage of the chordae tendinae of the mitral valve. This can lead to loss of tension of one of the mitral valve leaflets and mitral regurgitation.|HPO|N|
C5826384|Indicates that a cardiovascular procedure such as stenting, bypass, catherization was performed on a patient.|HPO|N|
C5826386|Presence of bacteria in the cerebrospinal fluid, as manifested by visual inspection or bacterial culture results.|HPO|N|
C5826388|Applies to the localization of a skin lesion involving any area of the body where two opposing skin surfaces can touch and rub or chaff.|HPO|N|
C5826389|Applies to the localization of a skin lesion that correspond to skin tension lines, which are linear clefts in the skin that indicate the direction of orientation of the underlying collagen fibers. Skin tension lines are also known as Langer's lines or lines of cleavage.|HPO|N|
C5826390|A deliberate avoidance of eye contact.|HPO|N|
C5826391|Tendency to maintain sustained eye contact for an inappropriately long period of time.|HPO|N|
C5826394|An reduced concentration of aspartic acid in the blood circulation.|HPO|N|
C5826395|Any deviation from the normal concentration of erythropoietin in the blood circulation. Erythropoietin is a glycoprotein hormone produced by the peritubular cells of the kidney that stimulates red blood cell production.|HPO|N|
C5826396|Decreased concentration of erythropoietin in the blood circulation. Erythropoietin is a glycoprotein hormone produced by the peritubular cells of the kidney that stimulates red blood cell production.|HPO|N|
C5826397|Any deviation from the normal level of the enzyme gamma-glutamyltransferase (GGT). GGT is mainly present in kidney, liver, and pancreatic cells, but small amounts are present in other tissues.|HPO|N|
C5826398|Decreased level of the enzyme gamma-glutamyltransferase (GGT). GGT is mainly present in kidney, liver, and pancreatic cells, but small amounts are present in other tissues.|HPO|N|
C5826399|Increased concentration of histamine in the blood circulation.|HPO|N|
C5826400|An increased concentration of interleukin-18 in the blood circulation.|HPO|N|
C5826401|Any deviation from the normal ratio of blood phytanic acid concentration to pristanic acid concentration.|HPO|N|
C5826402|An elevation above the normal ratio of blood phytanic acid concentration to pristanic acid concentration.|HPO|N|
C5826403|A reduction below the normal ratio of blood phytanic acid concentration to pristanic acid concentration.|HPO|N|
C5826404|Underdevelopment of the umbilicus.|HPO|N|
C5826405|Increased concentration of taurine in the cerebrospinal fluid (CSF).|HPO|N|
C5826406|An abnormally increased level of glutathione in the blood circulation.|HPO|N|
C5826407|An abnormally increased amount of phenylpyruvic acid in the urine.|HPO|N|
C5826409|An increased level of uracil in the cerebrospinal fluid.|HPO|N|
C5826410|An abnormally increased amount of kynurenine in the urine.|HPO|N|
C5826411|An abnormally increased concentration of L-alloisoleucine in the cerebrospinal fluid (CSF).|HPO|N|
C5826412|The concentration of 2-hydroxyadipic acid in the urine, normalized for urine concentration, is above the upper limit of normal.|HPO|N|
C5826413|An increased amount of homoarginine in the urine. Homoarginine is a nonproteinogenic alpha amino acid.|HPO|N|
C5826414|An increased concentration of cysteine in the urine.|HPO|N|
C5826415|Reduced amount of pancreatic elastase in the stool. This feature may be observed with pancreatic insufficiency.|HPO|N|
C5826416|Elevated amount of chloride in the stool.|HPO|N|
C5826417|Abnormal relative increase in the amount of fecal coproporphyrin III as compared to coproporphyrin I in the feces.|HPO|N|
C5826418|Abnormally high concentration of harderoporphyrin in feces.|HPO|N|
C5826419|Abnormally high concentration of heptacarboxylporphyrin in feces.|HPO|N|
C5826420|Abnormally high concentration of pentacarboxylporphyrin in feces.|HPO|N|
C5826421|Abnormally high concentration of isocoproporphyrin in feces.|HPO|N|
C5826422|Identification of Clostridium botulinum toxin in the feces.|HPO|N|
C5826423|Abnormal union of the membranous surfaces of the liver capsule and the parietal peritoneum due to inflammation or injury. Adhesions may be visualized by laparoscopy and may have a violin string appearance.|HPO|N|
C5826424|Spontaneous production of communicative gestures that are perceived as odd or mechanical, or are poorly integrated with other means of communication. This may include inaccurate mimicry of typical gestures.|HPO|N|
C5826426|The presence of lymphocytes with multilple vacuoles (a membrane-bound cell organelle) in the bone marrow.|HPO|N|
C5826427|The presence of calcium deposition in the spinal cord.|HPO|N|
C5826428|A diminished concentration of interleukin-7 in the circulation.|HPO|N|
C5826429|An increased concentration of interleukin-12 in the blood circulation.|HPO|N|
C5826430|An increased concentration of interleukin-13 in the blood circulation.|HPO|N|
C5826431|An increased concentration of interleukin-2 in the blood circulation.|HPO|N|
C5826432|An increased concentration of interleukin-4 in the blood circulation.|HPO|N|
C5826433|An increased concentration of interleukin-5 in the blood circulation.|HPO|N|
C5826434|White appearance (radio-opaqueness) of a paranasal sinus on radiography.|HPO|N|
C5826435|An increased in the level of glutamine in the brain identified by magnetic resonance spectroscopy (MRS).|HPO|N|
C5826436|A deviation from normal in the level of glutamine in the brain identified by magnetic resonance spectroscopy (MRS).|HPO|N|
C5826437|The concentration of hexanoic acid in the urine, normalized for urine concentration, is above the upper limit of normal.|HPO|N|
C5826438|Abnormal decrease in the width of the mediastinum.|HPO|N|
C5826439|Septate gallbladder is characterized by the presence of a septum that divides the gallbladder in two chambers. When the septum dividing the gallbladder lies longitudinally it is called bilobed gallbladder and when there is a transverse septum separating the fundus from the rest of the gallbladder it is called an hour-glass gallbladder.|HPO|N|
C5826440|An accumulation of myofilamentous material within individual muscle fibers, forming usually round but occasionally elongated bodies ranging from 2 to 15 pm in size. The so-called spheroid bodies stain green with the modified trichrome preparation and are mainly present in the periphery of type 1 muscle fibers, where they may occupy large sectors sharply demarcated from the remainder of the cross-sectioned muscle fiber.|HPO|N|
C5826441|Any deviation from the normal activity or histological staining of an enzyme in muscle tissue, usually measured in a muscle biopsy specimen.|HPO|N|
C5826442|Diminished activity of the enzyne aconitase in muscle tissue.|HPO|N|
C5826443|An elevation in the concentration of interferon alpha measured in the blood circulation.|HPO|N|
C5826445|The presence of inclusion bodies within the cytoplasm of muscle cells that react positively with acid fuchsin.|HPO|N|
C5826446|Deterioration of the cells of the myenteric plexus (also known as the Auerbach plexus) located between the layers of the muscular propria of the esophagus.|HPO|N|
C5826447|Scaling and overgrowth of horny tissue of the skin surrounding body orifices (including peri-auricular, peri-oral, peri-anal areas.|HPO|N|
C5826448|Presence of an elevated number of eosinophils in a lymph node (usually as demonstrated by lymph node biopsy).|HPO|N|
C5826449|Presence of trypomastigote parasites in the blood stream. This finding can be demonstrated by the identification of trypomastigote parasites on peripheral blood smear.|HPO|N|
C5826450|Deviation from the normal activity of an enzyme in muscle tissue.|HPO|N|
C5826451|Reduced activity of phosphoglycerate kinase (PGK) in muscle tissue. PGK is a glycolytic enzyme that catalyzes one of the two ATP-producing reactions in the glycolytic pathway, through the conversion of 1,3-bisphosphoglycerate to 3-phosphoglycerate.|HPO|N|
C5826452|Diminished production of type III procollagen by cultured skin fibroblasts.|HPO|N|
C5826453|Diminished activity of the enzyme myoadenylate deaminase. Myoadenylate deaminase is the muscle isoform of adenosine monophosphate (AMP) deaminase and catalyzes the deamination of AMP to inosine monophosphate and ammonia.|HPO|N|
C5826454|A developmental defect of a long bone, such as the femur or the humerus, characterized by a sharply curve deviation located in the metaphysis (shaft) of the bone.|HPO|N|
C5826455|Elevated amount of glycogen in the myocardium.|HPO|N|
C5826464|Decreased in average size (diameter) of megakaryocytes in the bone marrow. Megakaryocyte diameter can be assessed as using automated cellular imaging systems.|HPO|N|
C5826465|Long narrow depressions running lengthwise in hairshafts. This feature can be appreciated by scanning electron microsopy.|HPO|N|
C5826466|Presence of viable mycobacteria in the blood.|HPO|N|
C5826467|Increased activity of the enzyme pancreatic secretory trypsin inhibitor in the blood circulation.|HPO|N|
C5826468|A developmental anomaly in which an individual with an X chromosome and a Y chromosome (usually 46,XY) has a uterus. The uterus and Fallopian tubes are derived from the Müllerian duct and thus this phenotype is generally also associated with the presence of Fallopian tubes.|HPO|N|
C5826469|Deposition of calcium in meconium present in the internal cavity of the fetal bowel. This manifestation may be the result of any distal intestinal obstruction.|HPO|N|
C5826470|Adrenal leiomyoma is a rare, benign solid tumor that develops from the smooth muscle of the adrenal vein and its tributaries|HPO|N|
C5826471|Infiltration of the wall of the small intestine by lymphocytes and mature plasma cells.|HPO|N|
C5826473|Structural anomaly of peroxisomes, which are small, membrane-enclosed metabolic organelles with roles in the metabolism of complex lipids and reactive ionic species.|HPO|N|
C5826474|Reduced number of observable peroxisomes per cell. This feature can be observed by immunohistochemical staining of cultured cells (such as fibroblasts) or by electronmicroscopy.|HPO|N|
C5826475|Reduced activity of the enzyme sulfide:quinone oxidoreductase, which typically is measured in a biopsy specimen from liver or muscle.|HPO|N|
C5826477|A highly aggressive, extremely rare neoplasm of the ovary that is usually seen in children. The term rhabdoid is used because the tumor cells resemble rhabdomyoblasts but lack myogenic markers.|HPO|N|
C5826478|A rare and aggressive neoplasms developing mainly in the kidney but also in cerebral and extra-cerebral tissues and rarely in the heart. Histologically, rhabdoid renal and extrarenal tumors share common characteristics. The cells are polygonal, with eccentric, vesicular nuclei and prominent nucleoli, eosinophilic cytoplasmic inclusions. The tumors have an infiltrative growth pattern, necrosis, and high proliferative index. The immunohistochemistry tools of investigation facilitate differential diagnosis by showing loss of INI-1 expression, usually accompanied by germline mutations of the SMARCB1 gene. When INI-1 is still expressed in the affected tissues, a rhabdoid tumor with SMARCA4 mutations should be considered.|HPO|N|
C5826479|A rhabdoid tumor (a rare aggressive malignancies in infants and young children with a poor prognosis) originating in the urinary bladder.|HPO|N|
C5826480|A malginant rhabdoid tumor (MRT) originating in the liver. MRT are best characterized by the presence of round or polygonal cells with abundant eosinophilic cytoplasm, typical eosinophilic perinuclear inclusions, vesicular nuclei and prominent nucleoli. Immunohistochemical expression of vimentin and epithelial markers and lack of staining for S-100, myoglobin and desmin are commonly found, but are non-specific.|HPO|N|
C5826481|A malginant rhabdoid tumor (MRT) originating in muscle tissue.|HPO|N|
C5826482|A teratoma located in the neck.|HPO|N|
C5826483|Increased amount of 5-amino-4-imidazolecarboxamide(AICA)-riboside in the urine. AICA-riboside is the dephosphorylated counterpart of AICAR, an intermediate of de novo purine biosynthesis.|HPO|N|
C5826484|A developmental anomnaly characterized by the lack of development of the posterior communicating artery.|HPO|N|
C5826487|Increased width of the vascular wall of portal venules within the liver.|HPO|N|
C5826489|Amount of keratin 10 in the epidermis below the lower limit of normal. The findiong is typically ascertained by immunofluorescent microscopy.|HPO|N|
C5826491|Lower than normal amount of bullous pemphigoid antigen 1 (BP230) in the epidermis.|HPO|N|
C5826496|Presence of Trypanosoma cruzi in the blood stream. Trypanosoma cruzii is the etiological agent of Chagas disease.|HPO|N|
C5826497|A deviation from the normal distribution of cell types or their relative proprotions in a lymph node.|HPO|N|
C5826498|Lymph node with increased numbers of macrophages heavily laden with lipids.|HPO|N|
C5826499|Structural anomal of pancreatic acinus.|HPO|N|
C5826500|Nevus psiloliparus is a rare fatty tissue nevus that is a marker for encephalocraniocutaneous lipomatosis, a neurocutaneous syndrome with ocular and central nervous system anomalies. Clinically, nevus psiloliparus is often described as a congenital alopecia and appears as an irregularly shaped, circumscribed area of alopecia on the scalp. Histopathology demonstrates a near-complete absence of mature hair follicles with preservation of arrector pili muscles and mature adipocytes within the dermis.|HPO|N|
C5826501|Concentration of dehydroepiandrosterone-sulfate in the blood circulation above the upper limit of normal.|HPO|N|
C5826502|Any deviation from the normal concentration of thyroxine-binding globulin (TBG) in the blood circulation.|HPO|N|
C5826503|A reduction from the normal concentration of thyroxine-binding globulin (TBG) in the blood circulation.|HPO|N|
C5826504|An increased concentration of beta-aminoisobutyric acid in the blood circulation.|HPO|N|
C5826505|An increased concentration of dihydrouracil in the blood circulation. Dihydrouracil is an intermediate in the catabolism of uracil that is also known as 5,6-dihydrouracil.|HPO|N|
C5826506|An increased concentration of dihydrothymine in the blood circulation. Dihydrouracil is an intermediate in the catabolism of thymine.|HPO|N|
C5826507|An increased concentrationof N-carbamoyl-beta-alanine in the blood circulation.|HPO|N|
C5826508|An increased concentration of 5-hydroxymethyluracil in the blood circulation.|HPO|N|
C5826509|Concentration of creatinine in the cerebrrospinal fluid below the lower limit of normal.|HPO|N|
C5826510|An increased amount of creatine in the urine.|HPO|N|
C5826511|Concentration of biotin in the blood circulation below the lower limit of normal.|HPO|N|
C5826512|Concentration of thrombopoietin in the blood circulation above the upper limit of normal. Thrombopoietin is a glycoprotein hormone produced by the liver and kidney that stimulates the production and differentiation of megakaryocytes.|HPO|N|
C5826513|Concentration or activity of the C1q protein in the blood circulation below the lower limit of normal. C1q is the first component of the classical pathway and is composed of the C1qA chain, C1qB chain, and C1qC chain, which are encoded by C1qA, C1qB, and C1qC genes.|HPO|N|
C5826514|Concentration of apolipoprotein A-II below the lower limit of normal.|HPO|N|
C5826515|Concentration of CA19-9 above the upper limit of normal.|HPO|N|
C5826516|Concentration of DOPA (3,4-dihydroxyphenylalanine) in the blood circulation above the upper limit of normal.|HPO|N|
C5826517|Concentration of DOPA (3,4-dihydroxyphenylalanine) in the cerebrospinal fluid above the upper limit of normal.|HPO|N|
C5826518|Concentration of porphyrins or of a specific porphryin above the upper limit of normal. The most commonly tested circulating porphyrins are coproporphyrin, protoporphyrin, and uroporphyrin. Normally protoporphyrin is present in the highest concentration.|HPO|N|
C5826519|Concentration of 17-hydroxyprogesterone in the blood circulation below the lower limit of normal.|HPO|N|
C5826520|Concentration of transcobalamin II in the blood circulation below the lower limit of normal.|HPO|N|
C5826521|Concentration of myo-inositol in the blood circulation below the lower limit of normal.|HPO|N|
C5826522|Concentration of arabinitol in the blood circulation above the upper limit of normal.|HPO|N|
C5826523|Amount of arabitol in the urine above the upper limit of normal.|HPO|N|
C5826524|Amount of erythritol in the urine above the upper limit of normal.|HPO|N|
C5826525|Concentration of erythritol in the blood circulation above the upper limit of normal.|HPO|N|
C5826526|Concentration of matrix metalloproteinase 2 in the blood circulation below the lower limit of normal.|HPO|N|
C5826527|Concentration of a coenzyme (an organic molecule that binds to the active sites of an enzyme to promote the catalysis of a reaction) is above or below the limits of normal.|HPO|N|
C5826528|Concentration of S-adenosyl methionine (SAM) in the blood circulation above the upper limit of normal. SAM is a cosubstrate involved in methyl group transfers, transsulfuration, and aminopropylation.|HPO|N|
C5826529|Concentration of membrane cofactor protein in the blood circulation outside the limits of normal. Membrane cofactor protein (MCP, CD46) is a cell surface complement regulatory protein which acts as a cofactor for the factor I-mediated cleavage of the activated complement components C3b/C4b.|HPO|N|
C5826530|Concentration of membrane cofactor protein in the blood circulation below the lower limit of normal.|HPO|N|
C5826531|Concentration of membrane cofactor protein in the blood circulation above the upper limit of normal.|HPO|N|
C5826532|Lipid deposits localized within the liver. Xanthomas are benign but are often an important visible sign of systemic conditions such as familial hypercholesterolemia.|HPO|N|
C5826533|Lipid deposits localized within the adrenal gland. Xanthomas are benign but are often an important visible sign of systemic conditions such as familial hypercholesterolemia.|HPO|N|
C5826534|Lipid deposits localized within the spleen. Xanthomas are benign but are often an important visible sign of systemic conditions such as familial hypercholesterolemia.|HPO|N|
C5826535|Lipid deposits localized within the spinal cord. Xanthomas are benign but are often an important visible sign of systemic conditions such as familial hypercholesterolemia.|HPO|N|
C5826536|Lipid deposits localized within the brain. Xanthomas are benign but are often an important visible sign of systemic conditions such as familial hypercholesterolemia.|HPO|N|
C5826537|Lipid deposits localized within the bone marrow. Xanthomas are benign but are often an important visible sign of systemic conditions such as familial hypercholesterolemia.|HPO|N|
C5826538|Lipid deposits localized within one or more lymph nodes. Xanthomas are benign but are often an important visible sign of systemic conditions such as familial hypercholesterolemia.|HPO|N|
C5826542|History of having been treated with an exogenous androgen medication.|HPO|N|
C5826543|Diminished activity of the enzyme enolase in muscle tissue. The enzyme enolase catalyzes the interconversion of 2-phosphoglycerate and phosphoenolpyruvate. In adult human muscle, over 90% of enolase activity is accounted for by the beta-enolase subunit, the protein product of the ENO3 gene.|HPO|N|
C5826544|History of having been treated with a dopamine antagonist including metaclopramide, phenothiazine; haloperidol, chlorpromazine, promethazine, prochlorperazine, ziprasidone, and quetiapine.|HPO|N|
C5826545|The presence of inclusion bodies within the cytoplasm of muscle cells that contain a mxiture of granules and filaments.|HPO|N|
C5826546|Formation of vacuoles (a space within a cell that is empty of cytoplasm, lined with a membrane, and filled with fluid) in the cytoplasm of myeloid precursors in the bone marrow.|HPO|N|
C5826547|A cylindroma located in the lung. Cylindromas are well-circumscribed, smooth, pale pink nodular tumors, often with arborizing vessels visible. The tumors are slow growing and vary in size from a few millimeters to over 5 mm.|HPO|N|
C5826548|Fluid visible on the colonic surface containing fibrin, inflammatory cells, and cellular debris.|HPO|N|
C5826549|Presence of filaria in the blood stream. Filariasis is a common cause of elephantiasis in Coastal Districts of India. The initial manifestations are repeated episodes of fever with chills and rigor, lymphadenopathy which gradually progress to elephantiasis. In India filarial infestation is commonly caused by W. bancrofti and Brugia malayi, the former responsible for almost 98 percent of all cases.|HPO|N|
C5826550|The presence of an infectious agent in the skin.|HPO|N|
C5826551|Presence of filariae in the skin.|HPO|N|
C5826552|Accumulation of immunoglobulin A (IgA) surrounding dermal papillae, which are specialized cells that support the hair follicle.|HPO|N|
C5826553|Accumulation of antigen-bound antibody in the skin.|HPO|N|
C5826554|The concentration of a metabolite in the liver is above or below the limits of normal.|HPO|N|
C5826555|Intracellular accumulation of polyglucosan bodies-containing amylopectinlike polysaccharide-in the liver.|HPO|N|
C5826556|An aggregation of macrophages (forming in response to chronic inflammation) localized in the lining of a joint (synovium).|HPO|N|
C5826557|The concentration of fumaric acid in the urine, normalized for urine concentration, is above the upper limit of normal.|HPO|N|
C5826558|The amount of N-acetylaspartate in the urine, when corrected for urine concentration, is above upper limit of normal. This feature can be measured using gas chromatography-mass spectrometry.|HPO|N|
C5826559|Level of suberylglycine in urine above upper limit of normal.|HPO|N|
C5826560|Level of phenylpropionylglycine in urine above upper limit of normal.|HPO|N|
C5826561|The concentration of octenedioic acid in the urine, normalized for urine concentration, is above the upper limit of normal.|HPO|N|
C5826562|Level of a monocarboxylic acid in the urine above the upper limit of normal. A monocarboxylic acid is an oxoacid containing one carboxy group.|HPO|N|
C5826563|Amount of octanoic acid in the urine above the upper limit of normal.|HPO|N|
C5826564|The concentration of glutaconic acid in the urine, normalized for urine concentration, is above the upper limit of normal.|HPO|N|
C5826565|The concentration of 3-hydroxyglutaric acid in the urine, normalized for urine concentration, is above the upper limit of normal.|HPO|N|
C5826566|The concentration of malonic acid in the urine, normalized for urine concentration, is above the upper limit of normal.|HPO|N|
C5826567|Amount of propionylglycine in the urine above the upper limit of normal.|HPO|N|
C5826568|Amount of tiglylglycine in the urine above upper limit of normal.|HPO|N|
C5826569|Amount of 2-methylacetoacetic acid in the urine above upper limit of normal.|HPO|N|
C5826570|Amount of 3-hydroxypropionic acid in the urine above the upper limit of normal.|HPO|N|
C5826571|Amount of 2-methylcitric acid in the urine above the upper limit of normal.|HPO|N|
C5826572|Amount of 4-hydroxyisovaleric acid in urine above upper limit of normal.|HPO|N|
C5826573|Amount of 2-hydroxy-3-methylvaleric acid in the urine above the upper limit of normal. 2-Hydroxy-3-methylpentanoic acid or 2-hydroxy-3-methylvaleric acid (HMVA) is an organic acid generated by L-isoleucine metabolism.|HPO|N|
C5826574|Movement in the sagittal plane that increases the angle of the thumb joint (straightens the joint); motion involving posterior bending of the vertebral column or returning to the upright position from a flexed position.|HPO|N|
C5826575|A myxoma (benign soft tissue neoplasm characterized by the presence of spindle and stellate cells, lobulated growth pattern, and myxoid stroma formation) localized in the tongue.|HPO|N|
C5826576|A structural abnormality of the knee joint or surrounding structures.|HPO|N|
C5826577|A functional anomaly of the knee joint.|HPO|N|
C5826578|A structural anomaly of the ankle.|HPO|N|
C5826579|A functional anomaly of the ankle.|HPO|N|
C5826580|A type of toe joint contracture in which the joint lacks full expected flexion, so that the two bony segments on either side of their connecting joint cannot be brought together.|HPO|N|
C5826584|A type of finger joint contracture in which the joint lacks full expected flexion, so that the two bony segments on either side of their connecting joint cannot be brought together.|HPO|N|
C5826585|Amount of telethonin protein expression in muscle tissue below lower limit of normal. Telethonin is a 19-kDa sarcomeric protein, localized to the Z-disc of skeletal and cardiac muscles.|HPO|N|
C5826586|Concentration or activity of an enzyme is above or below the limits of normal.|HPO|N|
C5826587|Concentration or activity of an enzyme is above or below the limits of normal in liver tissue.|HPO|N|
C5826588|Activity of urocanase in the liver below the lower limit of normal.|HPO|N|
C5826589|Reduced hydrolysis (splitting of a bond and the addition of the hydrogen anion of water) of the sulfuric ester linkage in the molecule of cerebroside sulfate, possibly leading to accumuation of cerebroside sulfate.|HPO|N|
C5826590|Diminished enzyme activity of peroxisomal glutaryl-CoA oxidase, an enzyme that metabolizes glutaryl-CoA (a metabolite of L-lysine, L-hydroxy-lysine and L-tryptophan) by dehydrogenation to glutaconyl-CoA directly followed by decarboxylation of this to crotonyl-CoA.|HPO|N|
C5826591|Diminished activity of the enzyme sterol 27-hydroxylase, which participates in the degradation of cholesterol to bile acid. Sterol 27-hydroxylase catalyzes the first step in the normal oxidation of the steroid side chain, converting cholesterol, as well as different 7a-hydroxylated cholesterol metabolites, to 27-oxygenated steroids.|HPO|N|
C5826592|Diminished activity of the enzyme Short-chain acyl-CoA dehydrogenase (SCAD), a key enzyme of fatty acid beta-oxidation that catalyzes the first step in mitochondrial beta-oxidation of fatty acids.|HPO|N|
C5826593|Diminished activity of the enzyme 3-phosphoglycerate dehydrogenase (PGDH), which catalyzes the first step in the pathway by converting D-3-phosphoglycerate (PGA), an intermediate in glycolysis, to phosphohydroxypyruvate concomitant with the reduction of NAD+.|HPO|N|
C5826594|Increase in length of mitochondria.|HPO|N|
C5826595|Aromatase activity outside of the normal range.|HPO|N|
C5826596|Enzyme activity of aromatase above the upper limit of normal.|HPO|N|
C5826597|Enzyme activity of aromatase below the lower limit of normal.|HPO|N|
C5826598|Any structural anomaly of the keratinocyte. The keratinocyte is the major cell type of the epidermis and is responsible for generating the protective barrier.|HPO|N|
C5826599|Activity of D-glycerate kinase in the liver below the lower limit of normal.|HPO|N|
C5826600|Phagocytosis of erythrocytes, lymphocytes or other hematopoietic precursors by histiocytes or macrophages in a lymph node.|HPO|N|
C5826601|Underdevelopment of the upper branch of the pubis bone (inferior pubic ramus).|HPO|N|
C5826602|A rare benign mullerian mixed tumor of the uterus composed of benign epithelial and mesenchymal components.|HPO|N|
C5826603|An abnormal histological finding characterized by an increase in the cross-section area of peripheral nerve axons (up to 20-25 micrometers in diameter).|HPO|N|
C5826604|Concentration or activity of alpha mannosidase below the lower limit of normal in the blood circulation.|HPO|N|
C5826605|A structural anomaly of the hepatocyte, which is the main cell type that makes up the liver perncyhma. Hepatocytes are usually binucleated and appear as sheets in the liver tissue.|HPO|N|
C5826606|Accumulation of dark, coarsely granular pigment localized in lysosomes of centrilobular hepatocytes.|HPO|N|
C5826607|Activity of the enzyme uroporphyrinogen decarboxylase (UROD; EC 4.1.1.37) below the lower limit of normal.|HPO|N|
C5826608|Activity of the enzyme heme oxygenase below the lower limit of normal.|HPO|N|
C5826609|The presence of enlarged and swollen neurons that lack Nissl bodies (the rough endoplasmic reticulum-achromasia refers to neurons that lack Nissl bodies) in the cortex of the brain.|HPO|N|
C5826610|Presence of vacuoles (membrane-bound organelles that areempty of cytoplasm, lined with a membrane, and filled with fluid) in hepatocytes, which normally rarely contain vacuoles.|HPO|N|
C5826611|An abnormality of oocyte maturation characterized by the inability of oocytes to form pronuclei after in vitro fertilization procedures. Oocytes normally show two pronuclei 17 to 20 hours after in vitro insemination.|HPO|N|
C5826612|A type of skin tumor that initially presents as a reddish macule and subsequently becomes papular, enlarged, ulcerated and ultimately heals leaving pitted scars.|HPO|N|
C5826613|Concentration of pristanic acid in the blood circulation above the upper limit of normal.|HPO|N|
C5826615|Concentration of cystine in the cerebrospinal fluid below the lower limit of normal. Cystine is sulfur-containing amino acid obtained by the oxidation of two cysteine molecules which are then linked via a disulfide bond.|HPO|N|
C5826616|Activity of the enzyme beta-mannosidase outside normal limits. Beta-mannosidase is a lysosomal enzyme that catabolizes oligosaccharides.|HPO|N|
C5826617|Activity of the enzyme beta-mannosidase above the upper limit of normal. Beta-mannosidase is a lysosomal enzyme that catabolizes oligosaccharides.|HPO|N|
C5826618|Activity of the enzyme alpha-L-fucosidase below the lower limit of normal.|HPO|N|
C5826619|Activity of the enzyme alpha-L-fucosidase in the blood circulation outside the limits of normal.|HPO|N|
C5826620|Activity of the enzyme alpha-L-fucosidase above the upper limit of normal.|HPO|N|
C5826621|Increased concentration of S-adenosyl-L-homocysteine in the blood circulation.|HPO|N|
C5826622|Concentration S-adenosyl-L-methionine in the blood circulation above the upper limit of normal.|HPO|N|
C5826623|Concentration of argininosuccinic acid in the cerebrospinal fluid (CSF) above the upper limit of normal.|HPO|N|
C5826624|Concentration of aspartylglucosamine in the cerebrospinal fluid (CSF) above the upper limit of normal.|HPO|N|
C5826625|Concentration of alpha-oxoadipic acid in the blood above the upper limit of normal.|HPO|N|
C5826626|A deviation from the normal range of a metabolite in red blood cells.|HPO|N|
C5826627|Concentration of glutathione in red blood cells below the lower limit of normal. Glutathione (GSH) is an important redox active biomolecule critical in the maintenance and regulation of cellular and organismal health.|HPO|N|
C5826628|Concentration of sarcosine in the cerebrospinal fluid (CSF) above the upper limit of normal.|HPO|N|
C5826629|Concentration of methionine in the cerebrospinal fluid below the lower limit of normal.|HPO|N|
C5826630|Concentration of homoarginine in the blood circulation above the upper limit of normal.|HPO|N|
C5826631|The concentration of formiminoglutamic acid in the urine, normalized for urine concentration, is above the upper limit of normal.|HPO|N|
C5826632|Concentration of proline in the cerebrospinal fluid (CSF) above the upper limit of normal.|HPO|N|
C5826633|Level of S-sulfocysteine high in urine above the upper limit of normal.|HPO|N|
C5826634|Concentration of S-sulfocysteine in the blood circulation above the upper limit of normal.|HPO|N|
C5826635|Abnormal increase in the number of Sertoli cells in the testis.|HPO|N|
C5826636|The presence of an infectious agent in the cerebrospinal fluid (CSF).|HPO|N|
C5826637|Mycobacterium present in the cerebrospinal fluid (CSF). This feature can be ascertained by CSF microscopy.|HPO|N|
C5826638|Detection of a fungal organism (such as candida or coccidioides) in the blood stream.|HPO|N|
C5826640|A history of exposure during pregnancy of the mother of a fetus or child to a medication or other substance.|HPO|N|
C5826641|A history of exposure during pregnancy of the mother of a fetus or child to barbiturate medications such as phenobarbital. Barbiturates are used medically as anxiolytics, hypnotics, and anticonvulsants.|HPO|N|
C5826642|A history of exposure during pregnancy of the mother of a fetus or child to narcotic medications such as morphine or codeine. Narcotics are used medically to treat moderate or severe pain.|HPO|N|
C5826644|Lower than normal amount of extracellular matrix protein 1 (ECM1) in the epidermis.|HPO|N|
C5826645|Neurofibroma categorized according to the anatomical site of origin.|HPO|N|
C5826646|A neurofibroma (benign peripheral nerve sheath tumor) localized in the tongue.|HPO|N|
C5826647|A neurofibroma (benign peripheral nerve sheath tumor) localized in the stomach.|HPO|N|
C5826648|A neurofibroma (benign peripheral nerve sheath tumor) localized in the kidney.|HPO|N|
C5826649|Accumulation of a poorly branched and poorly spherical amylopectin-like glycogen (polyglucosan) in muscle fibers.|HPO|N|
C5826650|Abnormal structure of the rete ridges (also known as rete pegs), which are downward projections of epithelium surrounding the connective tissue papillae in between the dermal papillae.|HPO|N|
C5826651|Flattening of a curve in the spine in the lumbar (lower back) region.|HPO|N|
C5826652|Reduced anterioposterior dimension of the skull base.|HPO|N|
C5826653|A deviation from the normal frequency of blinking the eye.|HPO|N|
C5826654|The frequecy with which the eye is blinked is above the upper limit of normal.|HPO|N|
C5826655|The mother of a fetus or index patient has a history of hyperthyroidism during the corresponding pregnancy.|HPO|N|
C5826656|History of exposure to gadolinium, a contrast medium often used for magnetic resonance imaging.|HPO|N|
C5826657|Excretion of pus (purulent discharge) from the opening of the parotid duct.|HPO|N|
C5826659|Vomiting following a coughing spell.|HPO|N|
C5826660|Vasculitis categorized according to the anatomical site where the finding is localized.|HPO|N|
C5826661|Vasculitis categorized according to type of histological abnormality.|HPO|N|
C5826664|Any deviation from the normal amount of staining of succinate dehydrogenase in skeletal muscle tissue.|HPO|N|
C5826667|Excess residual cytoplasm is associated with abnormal spermatozoa produced from a defective spermiation process. This abnormal excess cytoplasm should not be confused with more physiological cytoplasmic residues that can be observed in direct microscopy of the ejaculate but not in dried, fixed and stained morphology smears.|HPO|N|
C5826668|Subsarcolemmal, eosinophilic glass-like regions within the cytoplasm of cardiomyocytes.|HPO|N|
C5826669|Phagocytosis of erythrocytes, lymphocytes or other hematopoietic precursors by histiocytes or macrophages observed in the liver.|HPO|N|
C5826670|Phagocytosis of erythrocytes, lymphocytes or other hematopoietic precursors by histiocytes or macrophages observed in the cerebrospinal fluid (CSF).|HPO|N|
C5826671|Phagocytosis of erythrocytes, lymphocytes or other hematopoietic precursors by histiocytes or macrophages observed in the spleen.|HPO|N|
C5826672|The presence of multiple granulomas in the urinary bladder as based on pathological examination. Granulomas are small 0.5 to 2 mm collections of modified macrophages called epithelioid cells usually surrounded by lymphocytes.|HPO|N|
C5826674|A perception that an object is in contact with the eye.|HPO|N|
C5826675|A perception that an object located in the vagina.|HPO|N|
C5826676|Abnormality of a sperm function including protection of paternal DNA, traversing the female reproductive tract, oocyte localisation, penetration of the zona pellucida, oocyte activation and centriole deposition.|HPO|N|
C5826677|Reduction in size of the acrosome below the lower limit of normal. The acrosome is a unique membranous organelle located over the anterior part of the sperm nucleus. According to the World Health Organization criteria, the acrosome must be clearly visible, comprising approximately 40-70 percent of the sperm head.|HPO|N|
C5826678|Spermiation failure is indicated by apparently normal spermiogenesis, but the presence of retained Sd2 spermatids in stages III-V of human spermatogenesis, whereas maturation arrest is indicated by a lack of late Sd1 and Sd2 spermatids in the epithelium.|HPO|N|
C5826679|Formation of a sheet of tissue by coagulum of exudate over the conjunctiva of the eye that if removed leaves behind a denuded bleeding surface.|HPO|N|
C5826680|A type of oligozoospermia characterized by a total number of more than zero but less than 2 million sperm in the ejaculate or a concentration of more than zero but less than one million sperm per milliliter.|HPO|N|
C5826681|A type of oligozoospermia characterized by a total number of more than 10 but less than 29 million sperm in the ejaculate or a concentration of more than 5 but less than 10 million sperm per milliliter.|HPO|N|
C5826682|A type of iris nodule consisting of inflammatory cell precipitates which lie on the iris surface.|HPO|N|
C5826684|Concentration of copper in the cerebrospinal fluid (CSF) below the lower limit of normal.|HPO|N|
C5826685|Diffuse lymphoid hyperplasia (DLH) describes the pathological entity that lies between follicular bronchiolitis and lymphocytic interstitial pneumonia (LIP). It is pathologically characterized by a diffuse peribronchiolar proliferation of hyperplastic lymphoid follicles (BALT), extended along the lymphatics to involve the interlobular septa and pleura. Unlike LIP, DHL does not show uniform involvement of the alveolar septa.|HPO|N|
C5826689|A decreased amount of laminin alpha-2 chain in muscle tissue. This feature can be shown by immunohistochemistry or Western blotting of muscle tissue.|HPO|N|
C5826690|Abnormal thickening of of the outer layer (cortex) of the adrenal gland due to fibrosis.|HPO|N|
C5826691|Concentration or activity of fructose 1,6-bisphosphate aldolase in liver tissue below the lower limit of normal.|HPO|N|
C5826692|A benign (noncancerous) tumorlike malformation made up of an abnormal mixture of cells and tissues that originates in the pancreas.|HPO|N|
C5826693|Accumulation of a poorly branched and poorly spherical amylopectin-like glycogen (polyglucosan) in peripheral nerve fibers.|HPO|N|
C5826694|Accumulation of a poorly branched and poorly spherical amylopectin-like glycogen (polyglucosan) in myocardial tissue.|HPO|N|
C5826695|Elastic fibers not demonstrable in skin biopsy.|HPO|N|
C5826696|Lack of lamellar bodies (LBs) inthe epidermis. LBs are specialized organelles that contain pro-barrier lipids imparting a fully lamellar internal structure, but also other cargoes such as enzymes (lipid metabolizing and proteolytic), enzyme inhibitors, and antimicrobial peptides.|HPO|N|
C5826697|The presence of multiple granulomas in the gastrointestinal tract (Pylorus, esophagus, jejunum, ileum, cecum, rectum, perirectal area, esophagus) as based on pathological examination. Granulomas are small 0.5 to 2 mm collections of modified macrophages called epithelioid cells usually surrounded by lymphocytes.|HPO|N|
C5826698|Increased size of sperm vacuoles, which are surface concavities typically located at the the tip or middle area of sperm heads. According to the WHO Laboratory Manual for the Examination and Processing of Human Semen, sperm head vacuoles are considered abnormal when exceeding 20% of the cross-sectional area of the head. Vacuoles are found in almost all samples with normal sperm morphology; this term applies if the proportion of sperm with abnormally large vacuoles is above the upper limit of normal.|HPO|N|
C5826699|A benign (noncancerous) tumorlike malformation made up of an abnormal mixture of cells and tissues that originates in the ureter.|HPO|N|
C5826700|A history of exposure during pregnancy of the mother of a fetus or child to methimazole.|HPO|N|
C5826701|A history of exposure during pregnancy of the mother of a fetus or child to procarbazine.|HPO|N|
C5826702|A history of exposure during pregnancy of the mother of a fetus or child to fluorouracil.|HPO|N|
C5826703|A history of exposure during pregnancy of the mother of a fetus or child to cytarabine.|HPO|N|
C5826704|A history of exposure during pregnancy of the mother of a fetus or child to tetracycline.|HPO|N|
C5826705|A history of exposure during pregnancy of the mother of a fetus or child to quinine.|HPO|N|
C5826706|A history of exposure during pregnancy of the mother of a fetus or child to cyclophosphamide.|HPO|N|
C5826707|A history of exposure during pregnancy of the mother of a fetus or child to metronidazole.|HPO|N|
C5826708|A history of exposure during pregnancy of the mother of a fetus or child to phenobarbital.|HPO|N|
C5826709|A history of exposure during pregnancy of the mother of a fetus or child to phenytoin.|HPO|N|
C5826710|A history of obesity, which can be defined as a body mass index of 30 or greater, in the mother of a fetus or index patient.|HPO|N|
C5826711|A history of amniocentesis having been performed in the mother of a fetus or index patient.|HPO|N|
C5826713|Concentration or activity of an enzyme as measured in leukocytes is above or below the limits of normal.|HPO|N|
C5826714|Concentration or activity of an beta-glucuronidase as measured in leukocytes is below the limits of normal.|HPO|N|
C5826715|Concentration or activity of an alpha-L-fucosidase as measured in leukocytes is below the limits of normal.|HPO|N|
C5826716|Concentration or activity of an arylsulfatase B as measured in leukocytes is below the limits of normal.|HPO|N|
C5826717|Concentration or activity of an arylsulfatase C as measured in leukocytes is below the limits of normal.|HPO|N|
C5826718|Concentration or activity of the lysosomal enzyme arylsulfatase A (EC 3.1.6.8) as measured in leukocytes is below the limits of normal.|HPO|N|
C5826719|Activity of the enzyme alpha-galactosidase outsidebelow the lower limit of normal.|HPO|N|
C5826720|Any kind of test for an infectious agent in stool positive.|HPO|N|
C5826721|Test for giardia antigen in stool such as immune assay or DFA positive.|HPO|N|
C5826722|Demonstration of antibody directed against Entamoeba histolytica in stool.|HPO|N|
C5826723|Concentration of porphyrin in erythrocytes below the lower limit of normal.|HPO|N|
C5826724|The concentration of urocanic acid in the blood circulation is below the lower limit of normal.|HPO|N|
C5826725|The concentration of epinephrine in the urine, normalized for urine concentration, is below the lower limit of normal.|HPO|N|
C5826726|Concentration of epinephrine in the cerebrospinal fluid below the lower limit of normal.|HPO|N|
C5826727|Concentration of epinephrin in the blood circulation below the lower limit of normal.|HPO|N|
C5826728|Concentration of norepinephrin in the blood circulation below the lower limit of normal.|HPO|N|
C5826729|The concentration of norepinephrine in the urine, normalized for urine concentration, is below the lower limit of normal.|HPO|N|
C5826730|The concentration of metanephrine in the urine, normalized for urine concentration, is below the lower limit of normal.|HPO|N|
C5826731|Concentration of metanephrine in the cerebrospinal fluid below the lower limit of normal.|HPO|N|
C5826732|Concentration of metanephrin in the blood circulation below the lower limit of normal.|HPO|N|
C5826733|A reduction in the velocity of portal venous flow, generally measured by Doppler ultrasound. Portal venous flow is normally towards the liver with peak systolic velocities in the range of 20-40 cm/s.|HPO|N|
C5826734|A swelling or enlargment localized to the cervis of the uterus. The word mass is usually used at an early stage of the diagnostic workup before the precise nature of the swelling has been determined.|HPO|N|
C5826735|The concentration of uromodulin (also known as Tamm Horsfall protein) in the urine, normalized for usine concentration, is outside the limits of normal.|HPO|N|
C5826736|The concentration of uromodulin (also known as Tamm Horsfall protein) in the urine, normalized for urine concentration, is below the lower limit of normal.|HPO|N|
C5826737|The concentration of phenylacetylglutamine in the urine, normalized for urine concentration, is above the upper limit of normal.|HPO|N|
C5826738|The concentration of guanidinoacetic acid in the urine, normalized for urine concentration, is below the lower limit of normal.|HPO|N|
C5826739|Detection of DNA and RNA originating from an infectious agent (bacteria, viruses, parasites and fungi) in the urine.|HPO|N|
C5826740|Detection of Cytomegalovirus (CMV) nucleic acid in the urine by a method such as polymerase chain reaction.|HPO|N|
C5826741|Detection of Neisseria gonorrhoeae nucleic acid in the urine by a method such as polymerase chain reaction.|HPO|N|
C5826742|Detection of enterovirus nucleic acid in the urine by a method such as polymerase chain reaction.|HPO|N|
C5826743|An increase in the level of glycine in the brain identified by magnetic resonance spectroscopy (MRS).|HPO|N|
C5826744|An increase in the level of polyol compounds in the brain identified by magnetic resonance spectroscopy (MRS).|HPO|N|
C5826745|An increase in the level of gamma-aminobutyric acid (GABA) in the brain identified by magnetic resonance spectroscopy (MRS).|HPO|N|
C5826746|Medical history of ingestion of anticoagulants prior to presentation.|HPO|N|
C5826747|Concentration of antidiuretic hormone, also known as vasopressin, is below the lower limit of normal in the blood circulation.|HPO|N|
C5826748|Concentration of growth hormone-releasing hormone above the upper limit of normal in the blood circulation.|HPO|N|
C5826749|Any deviation of the concentration of a protein in the amniotic fluid from normal limits|HPO|N|
C5826750|Concentration of alpha-fetoprotein in the amniotic fluid below lower limit of normal.|HPO|N|
C5826751|Concentration of vitamin E in the blood circulation above the upper limit of normal.|HPO|N|
C5826752|Concentration of calcitonin, a 32-amino acid polypeptide hormone that is produced primarily by the parafollicular cells of the thyroid, in the blood circulation outside of normal limits.|HPO|N|
C5826753|Concentration of calcitonin, a 32-amino acid polypeptide hormone that is produced primarily by the parafollicular cells of the thyroid, in the blood circulation below the lower limit of normal.|HPO|N|
C5826754|Concentration of thyrotropin releasing hormone below the lower limit of normal in the blood circulation.|HPO|N|
C5826755|Concentration of uroporphyrin in the blood circulation above the upper limit of normal.|HPO|N|
C5826756|Concentration of pentacarboxylporphyrin in the urine, normalized for urine concentration, is above the upper limit of normal.|HPO|N|
C5826757|Concentration of hexacarboxylporphyrin in the urine, normalized for urine concentration, is above the upper limit of normal.|HPO|N|
C5826758|Concentration of dehydroepiandrosterone in the blood circulation above the upper limit of normal.|HPO|N|
C5826759|Concentration of coproporphyrin in erythrocytes above the upper limit of normal.|HPO|N|
C5826760|Concentration of uroproporphyrin in erythrocytes above the upper limit of normal.|HPO|N|
C5826761|Concentration of apolipoprotein E below the lower limit of normal.|HPO|N|
C5826762|Concentration of apolipoprotein E above the upper limit of normal.|HPO|N|
C5826763|Reduction in the size of the acrosome of the head of spermatozoa.|HPO|N|
C5826764|Oocyte maturation arrest (OMA) can manifest as failed in vitro fetilization/intracytoplasmic sperm injection (IVF/ICSI) attempts using affected oocytes.|HPO|N|
C5826765|A structural anomaly of the anus.|HPO|N|
C5826766|A functional anomaly of the anus.|HPO|N|
C5826767|Diminished activity of the enzyme 2,4-dienoyl-CoA reductase in muscle tissue.|HPO|N|
C5826768|Diminished activity of the enzyme 2,4-dienoyl-CoA reductase in liver tissue.|HPO|N|
C5826769|Inflammation of blood vessels in the mucosa of the nasal cavity.|HPO|N|
C5826770|Axonal spheroids are bubble-like biological features that form on most degenerating axons.|HPO|N|
C5826771|Activity of the enzyme carboxylesterase 1 in liver tissue below the lower limit of normal.|HPO|N|
C5826772|A structural anomaly of the dermis, the layer of skin that lies beneath the epidermis and above the subcutaneous layer.|HPO|N|
C5826773|Deposition of a largely amorphous hyaline (transparent and homogeneous) substance around blood vessels in the dermis layer of the skin.|HPO|N|
C5826774|Deposition of a largely amorphous hyaline (transparent and homogeneous) substance around blood vessels in the wall of the small intestine.|HPO|N|
C5826775|Abnormally large keratohyalin granules (KHG). KHG are typically present in the stratum granulosum of the epidermal layer of the skin (and epithelium of the mucosae). KHG are protein structures found in the keratinocytes of the stratum granulosum.|HPO|N|
C5826776|Reduced amount of lipoic acid in muscle tissue.|HPO|N|
C5826777|Activity of cystathionine gamma-lyase in the liver below the lower limit of normal.|HPO|N|
C5826778|Activity of the enzyme acid maltase (also known as alpha-1,4-glucosidase) below the lower limit of normal.|HPO|N|
C5826780|Concentration of 7-dehydrocholesterol in the blood circulation outside the limits of normal.|HPO|N|
C5826781|Concentration of 7-dehydrocholesterol in the blood circulation below the lower limit of normal.|HPO|N|
C5826782|Concentration of lathosterol in the blood circulation above the upper limit of normal.|HPO|N|
C5826783|Concentration of desmosterol in the blood circulation above the upper limit of normal.|HPO|N|
C5826784|Concentration of sialic acid in the blood circulation below the lower limit of normal.|HPO|N|
C5826785|The synovial fluid (also known as synovia, i.e., the fluid found in the cavities of synovial joints) contains increased quantities of white blood cells.|HPO|N|
C5826786|The presence of inclusion bodies within the cytoplasm of muscle cells that demonstrate immunoreactivity for calsequestrin 1.|HPO|N|
C5826787|A myxoma (A benign tumor composed of myxomatous tissue composed of loosely-arranged spindle, polygonal, and stellate cells) localized to the palate. Clinically, such tumors may present as a sessile nodule on the hard palate.|HPO|N|
C5826788|A myxoma (tumor of primitive connective tissue) localized in the vagina.|HPO|N|
C5826789|Abnormal shape of keratohyaline granules in dermal keratinocytes.|HPO|N|
C5826790|Tubular shadows are characterized by a complete absence of cells in the testicular tubules, meaning that germ cells as well as somatic Sertoli cells are absent. The cells have been replaced by hyalinization.|HPO|N|
C5826791|Presence of many apocrine hidrocystoma (cysts) on the margins of the eyelids.|HPO|N|
C5826792|The fibrous sheath is a structure in the midpiece of the sperm flagellum surrounding the outer dense fibers. It comprises two longitudinal columns and tranverse ribs. In case of altered location of the longitudinal column in the fibrous sheath the symmetrical structure is lost, most commonly with the columns not being opposite to each other, which can be visualized by electron microscopy.|HPO|N|
C5826793|A myxoma (tumor of primitive connective tissue) localized to the uterus.|HPO|N|
C5826794|A myxoma (tumor of primitive connective tissue) localized to the the cervix of the uterus.|HPO|N|
C5826795|Penetrance describes the proportion of genotype positive individuals that develop disease given a lifespan of 80 years. For example, penetrance of Neurofibromatosis type 1 is close to 100%.|HPO|N|
C5826797|Activity of glycogen debrancher enzyme (also known as amylo-1,6-glucosydase, 4-alpha-glucantransferase) in liver tissue below the lower limit of normal.|HPO|N|
C5826798|Insertion of the neck and midpiece into the head of a spermatozoon on an axis that diverges from the midline axis of the spermatozoon head. This term applies if the proportion of spermatozoa with this defect is above the upper limit of normal.|HPO|N|
C5826799|The concentration of 3,6-epoxydicarboxylic acid in the urine, normalized for urine concentration, is above the upper limit of normal.|HPO|N|
C5826800|Presence of biliary sludge (a mixture of particulate solids that have precipitated from bile) in the gallbladder. Such sediment consists of cholesterol crystals, calcium bilirubinate pigment, and other calcium salts. Sludge is usually detected on transabdominal ultrasonography.|HPO|N|
C5826802|Width of the cavum septum pellucidum above the upper limit of normal, which is defined as a separation of greater than one cm of the leaves of the cavum septum pellucidum.|HPO|N|
C5826803|Underdevelopment of the trochlear nerve, which is the fourth cranial nerve and one of the ocular motor nerves that controls eye movement.|HPO|N|
C5826804|A series of indentations or erosions on a normally smooth margin of the inner layer of the cortex (i.e. the endosteum) of bones.|HPO|N|
C5826805|A benign (noncancerous) tumorlike malformation made up of an abnormal mixture of cells and tissues that originates in the urinary bladder.|HPO|N|
C5826806|A swelling or enlargment localized to the peritoneal cavity. The word mass is usually used at an early stage of the diagnostic workup before the precise nature of the swelling has been determined.|HPO|N|
C5826807|Congenital absence of the pyramids, that is, of the paired structures located at the medial aspect of the ventral medulla that flank the anterior median fissure.|HPO|N|
C5826808|A structural anomaly of the pituitary stalk, also known as the infundibulum or infundibular stalk, is the connection between the hypothalamus and the pituitary gland.|HPO|N|
C5826809|A developmental defect characterized by a discontinuity of the pituitary stalk. The pituitary stalk, also known as the infundibulum or infundibular stalk, is the connection between the hypothalamus and the pituitary gland.|HPO|N|
C5826810|Loss of sensation to the area of buttocks, perianal space and thighs.|HPO|N|
C5826811|Instillation of 2.5% phenylephrine drops into the eye does not induce blanching of eye redness. Failure to blanch suggests redness caused by scleral vessel engorgement (e.g., scleritis) or extravascular cause (e.g., hemorrhage), not episcleritis or conjunctivitis.|HPO|N|
C5826812|Diminished ability of cells to transport cobalamine from the extracellular space to the cytoplasm.|HPO|N|
C5826813|A localized area of cell death, often accompanied by infiltration of inflammatory cells, in the brainstem.|HPO|N|
C5826814|A localized area of cell death, often accompanied by infiltration of inflammatory cells, in the optic nerve.|HPO|N|
C5826815|A localized area of cell death, often accompanied by infiltration of inflammatory cells, in the thalamus.|HPO|N|
C5826816|Accumulation of fluid in the interstitial spaces of the skin. This finding can be appreciated my microscopic examination of a skin biopsy.|HPO|N|
C5826817|A type of thumb contracture characterized by a chronic reduction in active and passive ability of the metacarpal-phalangeal and/or interphalangeal joints of the thumb to bring from medial side to neutral position, where the neutral position for the thumb is when the distal and proximal segments of the thumb joint are in linear alignment.|HPO|N|
C5826819|Activity of fructose-1,6-bisphosphatase (EC 3.1.3.11) below the lower limit of normal. The activity can be measured in multiple tissues including liver and leukocytes.|HPO|N|
C5826820|Activity of carbamoylphosphate synthetase 1 in the liver below the lower limit of normal.|HPO|N|
C5826821|Reduced number of small nerve fibers in the skin.|HPO|N|
C5826822|A developmental defect characterized by the presence of a supernumerary femoral artery.|HPO|N|
C5826823|Collagen VII is the major molecular constituent of anchoring fibrils in the skin. Collagen VII is synthesized as three identical pro-alpha1(VII) polypeptide chains, which are hydroxylated and glycosylated in a coordinated manner and then fold into triple-helical procollagen VII in the endoplasmic reticulum (ER). Mature collagen VII undergoes a multistep fibril polymerization process to form the anchoring fibrils. Mutant pro-alpha1(VII) polypeptide chains or procollagen VII molecules do not pass the ER quality control and are retained in the ER or designated for ubiquitin-proteasome degradation resulting in reduced amounts of collagen VII in the skin.|HPO|N|
C5826824|Diminished amount of the anchoring fibrils in the basement membrane zone that normally attach the epithelium to the basement membrane.|HPO|N|
C5826825|Diminished amount of the anchoring filaments that normally bridge the lamina lucida and insert into the lamina densa in the cutaneous basement membrane zone.|HPO|N|
C5826826|Amount of keratin 5 in the epidermis below the lower limit of normal. The findiong is typically ascertained by immunofluorescent microscopy.|HPO|N|
C5826827|Amount of keratin 14 in the epidermis below the lower limit of normal. The findiong is typically ascertained by immunofluorescent microscopy.|HPO|N|
C5826828|Amount of one or more keratins in the epidermis below the lower limit of normal. The findiong is typically ascertained by immunofluorescent microscopy.|HPO|N|
C5826829|Activity of alanine-glyoxylate aminotransferase in the liver below the lower limit of normal.|HPO|N|
C5826830|Presence of an increased amount of blood in the hepatic capillaries.|HPO|N|
C5826832|Increased width of the midpiece of the spermatozoon. The midpiece is the structure that is located between the head and the flagella (tail) of the spermatozoon. This term applies if the width of the midpiece increases progressively from the flagella to the head and if the proportion of individual spermatozoa with this anomaly is above the upper limit of normal.|HPO|N|
C5826833|Exposure to a substance that results from the performance of an employee's duties.|HPO|N|
C5826834|Any structural abnormality of the femoral artey, a large blood vessel that provides oxygenated blood to lower extremity structures and in part to the lower anterior abdominal wall.|HPO|N|
C5826836|Accumulation of fibrous connective tissue (collagen) in the extrahepatic bile ducts.|HPO|N|
C5826837|Abnormal morphology of a specific peripheral nerve|HPO|N|
C5826838|Concentration of alpha-fetoprotein in the blood circulation outside normal limits.|HPO|N|
C5826839|Concentration of alpha-fetoprotein in the blood circulation below the lower limit of normal.|HPO|N|
C5826840|Concentration of vitamin E in the blood circulation outside of normal limits.|HPO|N|
C5826841|Decreased lymphocyte count during infections.|HPO|N|
C5826842|The presence of any atypical form of expressive language.|HPO|N|
C5826843|The number of times facial expressions are produced in a given period is lower than expected given the social and cultural context.|HPO|N|
C5826844|Diminished use of typical non-verbal conversational gestures such as shaking the head to indicate no or nodding the head to indicate yes.|HPO|N|
C5826845|Lack of interest in peers of comparable age and social groups is evident when an individual, such as a child, shows more interest in socializing with adults rather than children their own age.|HPO|N|
C5826846|Production of facial expressions that are misaligned with the social context.|HPO|N|
C5826847|Concentration of the nucleobase thymine in the blood circulation above the normal range.|HPO|N|
C5826848|Elevated hydrogen gas level in exhaled breath following oral administration of lactose. In individuals with lactose intolerance, undigested lactose in the colon will be metabolized by colonic bacteria, releasing hydrogen gas.|HPO|N|
C5826851|A root of a tooth that is more rounded than normal.|HPO|N|
C5826852|The four-chamber (4Ch) view of the fetal heart is the most widely used screening examination for the detection of structural cardiac abnormalities during routine fetal ultrasonography. In the healthy normal fetus, the apical 4Ch view demonstrates four well-developed chambers, a concordant atrioventricular (AV) connection, unobstructed AV valves (mitral and tricuspid valves), the foramen ovale flap opening into left atrium (LA), and an intact interventricular septum. Additionally, the pulmonary venous opening can be visualized at the LA wall. Any structural deviations from normal anatomy may lead to congenital heart disease that can be determined by the 4Ch view of the fetal heart's ultrasound imaging.|HPO|N|
C5826853|Deposits of immunoglobulins and complement components along the dermoepidermal junction.|HPO|N|
C5826854|Formation of vacuoles (a space within a cell that is empty of cytoplasm, lined with a membrane, and filled with fluid) in the cytoplasm of erythroid precursors in the bone marrow.|HPO|N|
C5826856|History of having taken aminoglycoside antibiotics.|HPO|N|
C5826857|History of having taken statins, also known as HMG-CoA reductase inhibitors.|HPO|N|
C5826858|History of having taken a potassium-sparing diuretic exposure such as amiloride, eplerenone, spironolactone, and triamterene.|HPO|N|
C5826859|History of having taken carbamazepine.|HPO|N|
C5826860|History of having taken valproate (valproic acid).|HPO|N|
C5826861|History of having taken hydralazine.|HPO|N|
C5826862|History of having taken a calcium channel blocker such as amlodipine, nicardipine, nifedipine, verapamil, or diltiazem.|HPO|N|
C5826865|A part of the past medical history consisting of information about the typical food intake of an individual.|HPO|N|
C5826866|A history of ingestion of a relatively high amount of foods containing high levels of oxalate, such as green-leaf vegetables, tea, nuts, chocolate and rhubarb.|HPO|N|
C5826867|A history of ingestion of honey in recent weeks.|HPO|N|
C5826868|A history of eating raw egg whites.|HPO|N|
C5826874|History of having been treateed with prostaglandin E1.|HPO|N|
C5826875|History of having been treated with 5-fluorouracil.|HPO|N|
C5826876|History of having been treateed with 6-mercaptopurine.|HPO|N|
C5826877|History of having been treateed with isoniazid.|HPO|N|
C5826879|Fetal abdominal cysts are usually detected during the second trimester anomaly scan or discovered incidentally at later gestations. However, a definitive diagnosis is often not made until postnatal life. The most common etiologies of fetal abdominal cysts are|HPO|N|
C5826880|Fetal bowel dilatation is characterized by fluid-filled intestinal loops which measure at least fifteen millimeters long or seven millimeters in diameter. Ultrasonographic image of dilated fetal bowel is a sign of intestinal mechanical or functional obstruction and its prevalence will depend on the underlying condition|HPO|N|
C5826881|A fetal ultrasound finding defined by flattening of the occiput with pointing of the frontal bones and brachycephaly with an increased cephalic index. It is characterized by keel shaped deformity of forehead with midline ridge, bilateral fronto temporal constriction with compensatory biparietal expansion, supra orbital and lateral orbital retrusion and hypotelorism. This finding is said to resemble a strawberry.|HPO|N|
C5826882|A prenatal anomaly of the outflow tract. Fetal ultrasound may not always be able to easily and accurately describe the outflow anomaly, but can detect abnormal anatomy. Often, follow up with a fetal echo is recommended, but fetal ultrasound is limited.|HPO|N|
C5826883|History of events that precede the current presenting condition and are thought to be of potential relevance, having occurred in the hours, days, or weeks before the current condition.|HPO|N|
C5826884|Medical history of a viral illness in recent weeks.|HPO|N|
C5826885|Medical history of a dental procedure in recent weeks.|HPO|N|
C5826886|Any structural anomaly of the hepatic artery or its branches.|HPO|N|
C5826887|A history of an injury that occurred several hours, days, or weeks before the current presenting complaint and is located on the other side of the body relative to the current presenting complaint.|HPO|N|
C5826888|Occuring on the left and right in succession. This term can refer to alternating sides of the body (e.g., Alternating hemiplegia) or alternative sides of the visual field (e.g., some migraine auras).|HPO|N|
C5826889|Description of conditions in which only an incomplete but relatively high proportion of individuals with a given genotype exhibit the disease regardless of age assuming a full lifespan of 80 years. There is no commonly accepted definition for incomplete, but high penetrance, but we suggest that this term be applied if at least 80 percent but less than 100 percent of individuals with the given genotype would manifest the disease with a full lifespan.|HPO|N|
C5826890|Description of conditions in which only a moderate proportion of individuals with a given genotype exhibit the disease regardless of age assuming a full lifespan of 80 years. There is no commonly accepted definition for moderate penetrance, but we suggest that this term be applied if at least 20 percent but less than 80 percent of individuals with the given genotype would manifest the disease with a full lifespan.|HPO|N|
C5826891|Description of conditions in which only a low proportion of individuals with a given genotype exhibit the disease regardless of age assuming a full lifespan of 80 years. There is no commonly accepted definition for low penetrance, but we suggest that this term be applied if at least some but less than 20 percent of carriers would manifest the disease with a full lifespan.|HPO|N|
C5826892|Decreased activity of the enzyme succinyl-CoA 3-ketoacid CoA transferase.|HPO|N|
C5826893|Activity of the enzyme phytanoyl-CoA hydroxylase (PhyH; EC 1.14.11.18) below the lower limit of normal in cultured fibroblasts. PhyH plays a role in the catabolism of phytanic acid, a branched-chain fatty acid that is a normal constituent of the human diet.|HPO|N|
C5826894|Diminished activity of hydroxysteroid 17-beta dehydrogenase 4 (HSD17B4), also known as D-bifunctional protein (DBP), a peroxisomal enzyme that catalyzes multiple steps of beta-oxidation of very long chain fatty acids.|HPO|N|
C5826895|Reduced plasmalogen concentration in the blood circulation.|HPO|N|
C5826896|Infection with live, attenuated varicella-zoster virus following vaccination. This is an extremely rare event that may indicate immunocompromise.|HPO|N|
C5826897|History of having been treated with corticosteroid medications in recent weeks.|HPO|N|
C5826898|A darker than expected T2 signal on magnetic resonance imaging (MRI) of the pons.|HPO|N|
C5826899|The presence of autoantibodies (immunoglobulins) in the serum that react against antigens present on the surface of thrombocytes such as the glycoproteins GPIIb/IIIa, GPIb/IX, and GPIa/IIa.|HPO|N|
C5826900|The presence of autoantibodies (immunoglobulins) in the serum that react against a voltage-gated potassium channel.|HPO|N|
C5826901|One or more previous pregnancies in which the fetus developed hydrops fetalis.|HPO|N|
C5826906|History of having been treated with an antiretroviral agent.|HPO|N|
C5826907|History of having been treated with a potassium-wasting diuretic such as thiazide (chlorothiazide, chlorthalidone, hydrochlorothiazide, indapamide, metolazone) and loop (bumetanide, ethacrynic acid, furosemide, torsemide) diuretics.|HPO|N|
C5826908|History of having been treated with a tricyclic antidepressant medication.|HPO|N|
C5826909|Pain improves or worsens with changes in body position.|HPO|N|
C5826910|Concentration of adenosine triphosphate (ATP) in red blood cells (erythrocytes) outside of the normal range.|HPO|N|
C5826911|Concentration of adenosine triphosphate (ATP) in red blood cells (erythrocytes) below the lower limit of normal.|HPO|N|
C5826912|Concentration of adenosine triphosphate (ATP) in red blood cells (erythrocytes) above the upper limit of normal.|HPO|N|
C5826913|An abnormally limited range of facial expressions demonstrated by a lack of nuance of facial expression to match specific social situations or an inability to demonstrate a normal range of emotions with one's face.|HPO|N|
C5826914|A strong desire to interact and engage with others that is perceived to be inappropriate or excessive in the context of cultural norms.|HPO|N|
C5826915|There is a diminished interest in all individuals, including both peers and non-peers.|HPO|N|
C5826916|Use of language that is overly formal, precise, detailed, or pedantic for the social context.|HPO|N|
C5826917|Hand stereotypies within the medial plane of the body.|HPO|N|
C5826918|Abnormal rise and fall of the voice in speech and vocalization.|HPO|N|
C5826919|Speech that is abnormally fast or slow|HPO|N|
C5826920|Speech with abnormal rhythm or pattern|HPO|N|
C5826921|Spontaneous production of communicative facial expressions that have poor quality or are perceived as odd or mechanical. This may include inaccurate mimicry of typical facial expressions. These expressions may be difficult to interpret for someone who is not familiar with the individual making the expression.|HPO|N|
C5826922|A tendency to make facial expressions that are exaggerated and a failure to make subtle facial expressions in a social context when a subtle expression is more appropriate.|HPO|N|
C5826923|A tendency to produce facial expressions with decreased intensity or expressivity which appear muted or flat.|HPO|N|
C5826924|The state of having abnormal relationships with others. This does not describe specific aspects of one's social aptitudes but rather a state which may come about from these aptitudes, such as lacking peer relationships or lacking close friends.|HPO|N|
C5826925|Abnormal movements of face and head.|HPO|N|
C5826926|Abnormal movements of the upper extremities.|HPO|N|
C5826927|Abnormal movements of the whole body.|HPO|N|
C5826928|A social interest in others that is abnormal given the social context. This can include an increased interest with another person or an abnormal lack of interest in other people.|HPO|N|
C5826929|A lack of awareness of social rules in multiple social settings, which are simple or intuitive to others in the same social setting.|HPO|N|
C5826930|Reduced awareness of expected conventions, which are normal and expected for particular social settings or interactions.|HPO|N|
C5826931|The state of having abnormal relationships with others. This does not describe specific aspects of one's social aptitudes but rather a state which may come about from these aptitudes, such as lacking peer relationships, lacking close friends, or having a relational network that is abnormal given one's cultural context.|HPO|N|
C5826933|Reduced use of imitation of tasks or movements of others in play or learning.|HPO|N|
C5826936|Social initiation refers to the ability to begin interactions with other people. This term refers to a reduction in the frequency with which an individual attempts to begin interactions. The term should only be used for individuals who are assessed to have sufficient intellectual and language skills to interact with others.|HPO|N|
C5826938|Abnormality in the way one responds to social cues such as a verbal cue (which should cause one to shift attention) or someone sharing their emotions (which should elicit a sympathetic response).|HPO|N|
C5826939|A communicative abnormality where one's nonverbal and verbal communication are poorly integrated. This may occur when verbal and nonverbal communication are intact alone but are abnormal when used together, or an abnormality in the use of typically integrated communication such as the use of beat gestures during speech.|HPO|N|
C5826942|Failure of a child to engage with peers games that involve creating imaginary scenarios or narratives, for instance, in which children pretend to be characters or act out adventerous scenarios.|HPO|N|
C5826943|A consistent failure to respond to any verbal cues.|HPO|N|
C5826944|This term refers to the observation that an affected person tends not to provide situationally appropriate responses to other people in times when these people are in emotional need. For instance, failure to provide comfort to a person who is sad or crying.|HPO|N|
C5826945|Speech which is abnormally loud that is not due to a structural or muscular abnormality.|HPO|N|
C5826946|Speech which is abnormally quiet or inappropriate whispering that is not due to a structural or muscular abnormality.|HPO|N|
C5826947|Speech that is abnormally loud or quiet for the social context in which it is spoken.|HPO|N|
C5826948|An abnormality in one's ability to control their attention towards a specific subject or task can include difficulties in changing or maintaining attention.|HPO|N|
C5826949|Abnormal sensory behavior, including avoiding or seeking sensory input or difficulty modulating sensory stimuli.|HPO|N|
C5826950|When one uses gestures that are unique to them and have no apparent meaning to others.|HPO|N|
C5826951|Atypical focus on arranging, balancing, or positioning objects; may be atypical in focus or intensity.|HPO|N|
C5826952|Checking behavior that is excessive for the situational context.|HPO|N|
C5826953|Hand washing behavior that is excessive for the situational context.|HPO|N|
C5826954|Distress in response to minor changes in one's environmental expectations.|HPO|N|
C5826955|A consistent failure to nonverbally respond to verbal cues such as a failure to shift attention or look at the source of the cue.|HPO|N|
C5826956|A consistent failure to verbally respond to verbal cues which are intended to elicit a verbal response.|HPO|N|
C5826957|Reduced use of speech-integrated gestures such as the use of beat gestures.|HPO|N|
C5826958|Absence or reduction in the use of head nodding to indicate "yes" or head shaking to indicate "no".|HPO|N|
C5826959|Absence or reduction in the use of pointing to request or direct another's attention.|HPO|N|
C5826961|Increased tolerance to sensory stimuli due to diminished sensory ability.|HPO|N|
C5826962|A decreased tolerance to physical touch.|HPO|N|
C5826963|Pursuit of a particular taste that is abnormal in intensity and/or frequency.|HPO|N|
C5826964|Pursuit of specific scents, smells, or fragrances that is abnormal in intensity and/or frequency.|HPO|N|
C5826965|Pursuit of a specific texture that is abnormal in intensity and/or frequency.|HPO|N|
C5826966|Pursuit of vestibular stimulation that is abnormal in intensity and/or frequency.|HPO|N|
C5826967|Pursuit visual stimulation by looking at specific sights, images, and/or colors that is abnormal in intensity and/or frequency.|HPO|N|
C5826968|A tendency to ask questions that are overly personal or otherwise inappropriate in the social situation in which they are asked.|HPO|N|
C5826969|Repetition of borrowed words or phrases outside of the context in which they were originally heard. E.g., scripting from TV shows or movies.|HPO|N|
C5826970|Immediate repetition of another person's speech.|HPO|N|
C5826971|Excessive cleaning of surfaces, living space, or environment that is excessive for the situational context.|HPO|N|
C5826974|Reduced production of smiles during engagement with an interactive parent, caregiver, or peer.|HPO|N|
C5826975|Atypically low ability to process social information and respond appropriately in interpersonal interactions|HPO|N|
C5826976|An abnormality in a child's ability play.|HPO|N|
C5826977|Reduced or lack of pretending in play (does not assign abstract properties to objects, use invisible objects, or use objects in nonliteral ways other than their intended purpose in play).|HPO|N|
C5826978|Use of objects in atypical, unimaginitive ways other than for which they are intended (banging, throwing, shaking, sorting, lining up, spinning).|HPO|N|
C5826979|Social engagement refers to the interaction of an individual with others in a contextually appropriate manner. This term refers to a lower than typical number of attempts to engage peers in conversation, play, or other interactions.|HPO|N|
C5826980|An atypically high tendency to avoid interpersonal exchanges characterizing by sharing of personal feelings, expressions of understanding, affirmation, and demonstrations of caring.|HPO|N|
C5826981|An atypically low tendency to offer information as a means to initiate or sustain social interactions or direct another's attention.|HPO|N|
C5826984|A difficulty in being able to understand the emotions of other people. This can range from recognizing emotions from facial expressions to an inability to empathize with others when they describe their feelings|HPO|N|
C5826986|Social emotional interactions refer to the exchange of feelings during social interactions by means of a wide range of communicative behaviors including facial expressions, body language, and verbal communication. This term refers to an atypically low production of emotion social communication by an individual.|HPO|N|
C5826987|A tendency to interact with others as if they are objects with functional purpose rather than engaging in social/emotional interactions.|HPO|N|
C5826988|Inability or difficulty in describing one's emotions because of a lack of emotional awareness or difficulty describing felt emotions in words.|HPO|N|
C5826990|Failure to follow social norms (shared standards of acceptable behavior) even though one has awareness of these norms and the ability to follow them. This is characterized by an indifference to the consequences of breaking social norms.|HPO|N|
C5826991|Aggression that is directed towards other individuals, as opposed to oneself.|HPO|N|
C5826992|Aggression that is directed towards caregivers.|HPO|N|
C5826993|Aggression that is directed towards non-caregivers.|HPO|N|
C5826995|Insistence on rituals which are self-imposed on a person's environment including directing the behavior of those around them.|HPO|N|
C5827000|Failure to acquire the ability to play cooperatively, a type of play in whichchildren work together towards a common goal and in which a child displays interest both in the play and in the the other child or children involved in playing. This ability is observed in neurotypical children from the age of 3 to 6 years.|HPO|N|
C5827003|Notch, groove, or scar of the upper lip without noticeable rupture of the lip. Microforms are sometimes associated with disruption of the continuity of the orbicularis oris muscle.|HPO|N|
C5827004|Cleft hard palate in which the cleft does not go through the entire length of the hard palate, ie. the cleft does not go from the incisor foramen to the anterior border of the soft palate.|HPO|N|
C5827005|Cleft maxillary alveolar ridge in which the cleft does not go through the entire length of the maxillary alveolar ridge.|HPO|N|
C5827006|Cleft maxillary alveolar ridge in which the cleft goes through the entire length of the maxillary alveolar ridge.|HPO|N|
C5827007|Cleft of the upper lip that starts from the bottom of the upper lip and reaches the nasal cavity.|HPO|N|
C5827008|Notch, groove, or scar of the upper lip without noticeable rupture of the lip.|HPO|N|
C5827009|Bilateral cleft lip in which the cleft lip on both sides are microform, i.e. a notch, groove, or scar without noticeable rupture of the lip.|HPO|N|
C5827011|A history of exposure to silver that has occurred in relation to performance of job duties.|HPO|N|
C5827012|Activity of methionine adenosyltransferase in the liver below the lower limit of normal. Note that there are multiple methionine adenosyltransferase isoezymes.|HPO|N|
C5827013|Pursuit of specific sounds or noises that is abnormal in intensity and/or frequency.|HPO|N|
C5828294|A spectrum of functional deterioration in various lymphocyte populations that is induced by continuous antigenic stimulation. There are overlapping similarities with CELLULAR SENESCENCE; IMMUNOSENESCENCE; T-CELL SENESCENCE; and CLONAL ANERGY.|MSH|N|
C5828298|Concurrent multiple types of lymphocyte exhaustion.|MSH|N|
C5828326|Crimes against a family member which are, or have been, justified by the perpetrators to protect the honor of the family. The targets may be children or adults of either gender.|MSH|N|
C5828347|Estimate of an individual''s genetic liability to a trait or disease, calculated according to their genotype profile and relevant genome-wide association study data. (from Tutorial: a guide to performing polygenic risk score analyses. Nat Protoc. 2020 Sep;15(9):2759.)|MSH|N|
C5828361|Aberrant motor behaviors leading to inappropriate or purposeless activities in people with dementia. Aberrant motor behaviors in people with dementia include aggression, agitation, refusal to care and wandering.|MSH|N|
C5828456|A state of feeling emotionally overextended and drained.|MSH|N|
C5828495|Hearing loss that is difficult to diagnose by standard hearing tests as it most often pertains to difficulties in hearing only in certain situations such as in noisy environments.|MSH|N|
C5828499|Sense of time urgency to complete a task. This sense of time urgency creates psychological pressure affecting performance (https://www.nrc.gov/docs/ML2112/ML21127A272.pdf).|MSH|N|
C5828614|Health effects associated with activities of businesses, commercial entities or corporations.|MSH|N|
C5829558|X-linked spermatogenic failure-5 (SPGFX5) is characterized by male infertility due to asthenoteratozoospermia. Patient sperm shows reduced or absent progressive motility, and multiple morphologic abnormalities of the flagella (MMAF) are observed, including short, coiled, irregular caliber, absent, and/or angulated flagella. Pregnancy may be achieved by intracytoplasmic sperm injection (ICSI) (Liu et al., 2023).
For a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).|OMIM|N|
C5829562|X-linked spermatogenic failure-6 (SPGFX6) is characterized by male infertility due to asthenoteratozoospermia. Patient spermatozoa show reduced progressive motility, and multiple morphologic abnormalities of the flagella (MMAF) are observed, primarily short and coiled flagella. Pregnancy can be achieved by intracytoplasmic sperm injection (ICSI) (Liu et al., 2021).
For a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).|OMIM|N|
C5829567|X-linked spermatogenic failure-7 (SPGFX7) is characterized by male infertility due to significantly reduced sperm concentration and progressive motility, with abnormalities of the head and flagella. Patient sperm show insufficient individualization, excessive residual cytoplasm, and defects in acrosome development (Zhang et al., 2023).
For a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).|OMIM|N|
C5829568|X-linked intellectual developmental disorder-111 (XLID111) is a neurodevelopmental disorder characterized by different degrees of impaired intellectual development associated with motor, speech, and behavioral impairments (El Chehadeh et al., 2022).|OMIM|N|
C5829571|Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis-1 (CHINE1) is an X-linked syndromic disorder that is phenotypically more severe in males than females. Affected males present with the full constellation of symptoms in early infancy, resulting in death in early childhood. Affected females develop early-onset hearing impairment, often with early-onset cataracts, but only rarely have nephrotic syndrome or proteinuria; they do not have enterocolitis. The variable manifestations in females may be influenced by skewed X-inactivation. Telomeres are shortened, but classic mucocutaneous features of DKCX are not typically observed. CHINE1 is due to a ribosomal pseudouridylation defect (Balogh et al., 2020).
See also CHINE2 (620425), caused by mutation in the NOP10 gene (606471).|OMIM|N|
C5829577|X-linked multisystem autoinflammatory disease with immune dysregulation (ADMIDX) is an X-linked recessive disorder with onset of symptoms in infancy or early childhood. Affected individuals may present with variable cytopenias, including anemia, thrombocytopenia, neutropenia, lymphopenia, or hypogammaglobulinemia, and systemic or organ-specific autoinflammatory manifestations. These include skin lesions, panniculitis, inflammatory bowel disease, pulmonary disease, or arthritis associated with recurrent fever, leukocytosis, lymphoproliferation, and hepatosplenomegaly in the absence of an infectious agent. Some patients have circulating autoantibodies that underlie the cytopenias or systemic features, whereas others do not have circulating autoantibodies. In addition, some patients have recurrent infections, whereas others do not show signs of an immunodeficiency. Laboratory studies are consistent with immune dysregulation, including altered B-cell subsets and variably elevated proinflammatory cytokines. Detailed functional studies of platelets, red cells, and T lymphocytes suggest that abnormal actin cytoskeleton remodeling is a basic defect, indicating that this disorder can be classified as an immune-related actinopathy. Severe complications of the disease may result in death in childhood (Boussard et al., 2023; Block et al., 2023).|OMIM|N|
C5829585|Atypical hemolytic uremic syndrome-8 with rhizomelic short stature (AHUS8) is an X-linked disorder with variable manifestations. The age at onset of renal symptoms is variable, ranging from infancy to the early twenties. Features of atypical hemolytic uremic syndrome (aHUS) include acute renal dysfunction with proteinuria, thrombotic microangiopathy, anemia, thrombocytopenia, increased serum lactate dehydrogenase (LDH), and schistocytes on peripheral blood smear. Affected individuals also have short stature with short limbs. More variable features include immunodeficiency with recurrent infections, developmental delay, and dysmorphic features. Treatment with C5 inhibitors results in improvement of renal function. Female carriers may show an attenuated phenotype (Hadar et al., 2023; Erger et al., 2023).
For a discussion of genetic heterogeneity of aHUS, see AHUS1 (235400).|OMIM|N|
C5829589|X-linked intellectual disorder-112 (XLID112) is a neurodevelopmental disorder characterized by developmental delay, with speech delay more prominent than motor delay, autism or autism traits, and variable dysmorphic features. Affected females have been reported, which appears to be related to skewed X-inactivation (summary by Hiatt et al., 2023).|OMIM|N|
C5829889|Congenital myopathy-4B (CMYP4B) is an autosomal recessive disorder of the skeletal muscle characterized by the onset of muscle weakness in infancy or early childhood. The severity and pattern of muscle weakness varies, but most affected individuals show congenital contractures, delayed motor development, hypotonia, generalized muscle weakness, and weakness of the proximal limb muscles and neck muscles, resulting in difficulty walking or inability to walk. Affected individuals have respiratory insufficiency due to muscle weakness, which may be life-threatening. Other common features include myopathic facies, chest deformities, distal joint laxity, and scoliosis. Variable histologic findings on skeletal muscle biopsy are observed, including nemaline rods, type 1 fiber predomination, and centralized nuclei (Tan et al., 1999; Lehtokari et al., 2008).
For a discussion of genetic heterogeneity of congenital myopathy, see CMYP1A (117000).|OMIM|N|
C5830150|An irreversible obstructive lung disease characterized by subepithelial inflammation and fibrotic narrowing of the bronchioles after lower respiratory tract infection during childhood, especially early childhood. Although diagnosis of PIBO should be confirmed by histopathology, it is generally based on history and clinical findings. Irreversible airway obstruction is demonstrated by decreased forced expiratory volume in 1 second with an absent bronchodilator response, and by mosaic perfusion, air trapping, and/or bronchiectasis on computed tomography images. However, lung function tests using spirometry are not feasible in young children, and most cases of PIBO develop during early childhood.|MONDO|N|
C5830244|Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures (NEDFSS), is characterized by these features and global developmental delay with delayed or absent walking, moderate to severely impaired intellectual development, and poor or absent speech acquisition. Affected individuals may also have behavioral abnormalities. About half of patients develop various types of seizures that are usually well-controlled with medication. Rare patients are noted to have heat intolerance or insensitivity to pain (Lines et al., 2022).|OMIM|N|
C5830269|Autosomal recessive intellectual developmental disorder-78 (MRT78) is a neurodevelopmental disorder characterized by impaired intellectual development that is usually mild, but shows variable severity. Affected individuals have microcephaly and mild short stature. Additional features may include ocular abnormalities and mild skeletal defects (Haag et al., 2021).|OMIM|N|
C5830270|Developmental delay with hypotonia, myopathy, and brain abnormalities (DEDHMB) is an autosomal recessive disorder characterized by global developmental delay and muscle weakness apparent in infancy. Affected individuals show severe motor delay and may not achieve independent walking due to central hypotonia and skeletal muscle myopathy. Some have poor overall growth with microcephaly, subtle dysmorphic features, and delayed language acquisition. Brain imaging shows cerebral atrophy, thinning of the corpus callosum, and delayed myelination (Shamseldin et al., 2016; Kotecha et al., 2021).|OMIM|N|
C5830272|Congenital hydrocephalus-5 (HYC5) is an autosomal dominant condition characterized by hydrocephalus associated with aqueductal stenosis apparent from birth. Some patients may have neurodevelopmental delay, seizures, or structural brain abnormalities (Furey et al., 2018).
For a discussion of genetic heterogeneity of congenital hydrocephalus, see 233600.|OMIM|N|
C5830273|Neurodevelopmental disorder with poor growth and behavioral abnormalities (NEDGBA) is an autosomal recessive disorder characterized by global developmental delay, moderately to severely impaired intellectual development, often with absent speech, and behavioral abnormalities, including hyperactivity, short attention span, and ADHD. Affected individuals show failure to thrive with poor overall growth; some have microcephaly. Additional features may include nonspecific facial dysmorphism, hypotonia, and feeding difficulties (Vogt et al., 2022; Meng et al., 2023).|OMIM|N|
C5830275|Hypomyelinating leukodystrophy-25 (HLD25) is an autosomal recessive disorder characterized by horizontal nystagmus, hypotonia, and global developmental delay apparent soon after birth or in infancy. Most patients show gradual clinical improvement over time with resolution of the nystagmus in early childhood. Many achieve developmental milestones and may have normal cognition, although the severity of the disorder varies and some patients may have persistent neurologic deficits, such as ataxia or intellectual disability. Brain imaging shows hypomyelination that may also improve with time (Yan et al., 2022; do Rosario et al., 2022).
For a general phenotypic description and a discussion of genetic heterogeneity of HLD, see 312080.|OMIM|N|
C5830279|Lymphatic malformation-13 (LMPHM13) is characterized by the presence of nonimmune hydrops fetalis which often resolves with age. Capillary or cavernous hemangiomas are present in most patients, as are cardiac defects, often mild (Abdelrahman et al., 2018).
For a discussion of genetic heterogeneity of lymphatic malformation, see 153100.|OMIM|N|
C5830280|Episodic kinesigenic dyskinesia-3 (EKD3) is an autosomal dominant form of paroxysmal kinesigenic dyskinesia (PKD), an episodic involuntary movement disorder characterized by dystonia, chorea, athetosis, and other hyperkinetic movements. The age at onset is around 9 to 12 years of age and symptoms are usually triggered by sudden movement or stress. Most patients have spontaneous resolution of episodes in their early twenties or later. Brain imaging is normal. There is a favorable response to treatment with carbamazepine (Li et al., 2021; Tian et al., 2022; Wang et al., 2022).
For a general phenotypic description and a discussion of genetic heterogeneity of episodic kinesigenic dyskinesia (EKD), see EKD1 (128200).|OMIM|N|
C5830283|Congenital myopathy-18 (CMYP18) is a disorder of the skeletal muscle characterized by the onset of symptoms of muscle weakness in early childhood, including in utero and infancy. There is clinical heterogeneity in the manifestations and severity, ranging from fetal akinesia sequence causing early death to onset of symptoms in adulthood. Most affected individuals show delayed motor development with generalized hypotonia and progressive axial and limb muscle weakness beginning soon after birth or in infancy. Additional features may include swallowing difficulties, external ophthalmoplegia, ptosis, high-arched palate, and respiratory insufficiency, which can lead to death in severe cases. Muscle biopsy shows variable morphologic abnormalities, including alveolar changes in the intermyofibrillar network, fiber size variability, focal disorganization, internal nuclei, and dilated sarcoplasmic reticulum and T-tubules. The disorder results from a defect in excitation-contraction coupling in skeletal muscle (Schartner et al., 2017; Ravenscroft et al., 2021; Mauri et al., 2021; Yis et al., 2019).
For a discussion of genetic heterogeneity of congenital myopathy, see CMYP1A (117000).|OMIM|N|
C5830291|Dilated cardiomyopathy-1OO (CMD1OO) is characterized by enlarged left ventricular end-diastolic diameter and reduced left ventricular ejection fraction, resulting in cardiac failure that may result in premature death. Some patients also exhibit second-degree atrioventricular block and premature ventricular beats (Shi et al., 2023).
For a general phenotypic description and discussion of genetic heterogeneity of dilated cardiomyopathy, see CMD1A (115200).|OMIM|N|
C5830296|Neurodevelopmental disorder with seizures, spasticity, and partial or complete agenesis of the corpus callosum (NEDSSCC) is an autosomal recessive disorder characterized by axial hypotonia and global developmental delay apparent from the first days or months of life. Affected individuals often have feeding difficulties and develop early-onset seizures that tend to be well-controlled. Other features include peripheral spasticity with hyperreflexia, variable dysmorphic features, impaired intellectual development, behavioral abnormalities, and hypoplasia or absence of the corpus callosum on brain imaging (Faqeih et al., 2023).|OMIM|N|
C5830299|CTRCT50 is characterized by pediatric or early-onset cataract, with more than half of affected individuals exhibiting high-tension glaucoma. Variable anterior segment defects have also been reported (Bennett et al., 2014).|OMIM|N|
C5830300|Autosomal recessive congenital myopathy-2B (CMYP2B) is a disorder of the skeletal muscle characterized by severe hypotonia with lack of spontaneous movements and respiratory insufficiency, usually leading to death in infancy or early childhood (Agrawal et al., 2004). However, longer survival has also been reported, likely due to the type of mutation and extent of its impact (O'Grady et al., 2015).
Mutations in the ACTA1 gene can cause a range of skeletal muscle diseases. About 90% of patients with ACTA1 mutations carry heterozygous mutations, usually de novo (CMYP2A; 161800), whereas 10% of patients carry biallelic ACTA1 mutations (CMYP2B) (Nowak et al., 2007).
For a discussion of genetic heterogeneity of congenital myopathy, see CMYP1A (117000).|OMIM|N|
C5830312|Hypomyelinating leukodystrophy-26 with chondrodysplasia (HLD26) is characterized by severe psychomotor delay, predominantly involving motor and expressive language development, with cerebral and cerebellar atrophy and corpus callosum hypoplasia. In addition, patients show pre- and postnatal growth retardation, early-onset scoliosis, and dislocations of large joints (Guasto et al., 2022).
For a general phenotypic description and a discussion of genetic heterogeneity of HLD, see HLD1 (312080).|OMIM|N|
C5830319|Neurodevelopmental disorder with absent speech and movement and behavioral abnormalities (NEDSMB) is an autosomal recessive disorder characterized by global developmental delay and severely impaired intellectual development with aggressive behavior. Mild dysmorphic features and hypodontia are also present (Faqeih et al., 2023).|OMIM|N|
C5830322|Mitochondrial complex IV deficiency nuclear type 23 (MC4DN23) is an autosomal recessive disorder characterized by infantile-onset encephalopathy (Rius et al., 2022).
For a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see 220110.|OMIM|N|
C5830326|Oocyte/zygote/embryo maturation arrest-14 (OZEMA14) is characterized by female infertility due to oocyte maturation arrest, fertilization failure, and/or early embryonic arrest. The rare fertilized embryos that are transferred to the uterus fail to establish pregnancy after transfer (Zhao et al., 2020, Zhao et al., 2021, Huang et al., 2021, Xu et al., 2021).
For a discussion of genetic heterogeneity of OZEMA, see 615774.|OMIM|N|
C5830329|Spermatogenic failure-81 (SPGF81) is characterized by male infertility due to oligoasthenoteratozoospermia. Patient spermatozoa exhibit acrosomal hypoplasia as well as detachment of the acrosome from the sperm head, and also show markedly reduced progressive motility (Liu et al., 2023)
For a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).|OMIM|N|
C5830333|Congenital myopathy-2C (CMYP2C) is an autosomal dominant disorder of the skeletal muscle characterized by severe congenital weakness usually resulting in death from respiratory failure in the first year or so of life. Patients present at birth with hypotonia, lack of antigravity movements, poor head control, and difficulties feeding or breathing, often requiring tube-feeding and mechanical ventilation. Decreased fetal movements may be observed in some cases. Of the patients with congenital myopathy caused by mutation in the ACTA1 gene, about 90% carry heterozygous mutations that are usually de novo and cause the severe infantile phenotype. Some patients with heterozygous mutations have a more typical and milder disease course with delayed motor development and proximal muscle weakness, but are able to achieve independent ambulation (CMYP2A; 161800). The severity of the disease most likely depends on the detrimental effect of the mutation, although there are probably additional modifying factors (Ryan et al., 2001; Laing et al., 2009; Sanoudou and Beggs, 2001; Agrawal et al., 2004; Nowak et al., 2013; Sewry et al., 2019; Laitila and Wallgren-Pettersson, 2021).
For a discussion of genetic heterogeneity of congenital myopathy, see CMYP1A (117000).|OMIM|N|
C5830340|Autosomal dominant deafness-86 (DFNA86) is characterized by late-onset progressive hearing loss through p53 (TP53; 191170)-mediated hair cell apoptosis (Zhang et al., 2020).|OMIM|N|
C5830342|Autosomal dominant deafness-87 (DFNA87) is characterized by nonsyndromic prelingual profound sensorineural hearing loss with inner ear anomalies, including cochlear maldevelopment, absence of the osseous spiral lamina, and/or an enlarged vestibular aqueduct (Su et al., 2020).|OMIM|N|
C5830346|Immunodeficiency-109 with EBV-induced lymphoproliferation (IMD109) is an autosomal recessive primary immune disorder characterized by onset of recurrent sinopulmonary infections in childhood. Affected individuals are susceptible to infection with EBV and develop EBV viremia and EBV-associated lymphoproliferative disease or B-cell lymphoma. Immunologic work-up shows normal levels of T, B, and NK cells, with defective CD8+ T cell function after stimulation. Some patients may have hypogammaglobulinemia and poor antibody response to stimulation (Alosaimi et al., 2019).|OMIM|N|
C5830355|Autosomal dominant deafness-88 (DFNA88) is characterized by nonsyndromic postlingual progressive severe sensorineural hearing loss with tinnitus (Jiang et al., 2011; Huang et al., 2023).|OMIM|N|
C5830357|Autosomal dominant deafness-89 (DFNA89) is characterized by nonsyndromic progressive age-related hearing loss, with onset at birth or in early childhood (Brownstein et al., 2020).|OMIM|N|
C5830359|Juvenile amyotrophic lateral sclerosis-27 (ALS27) is an autosomal dominant disorder characterized by early childhood-onset lower extremity spasticity manifesting as toe walking and gait abnormalities, followed by progressive lower motor neuron-mediated weakness without sensory signs or symptoms (Mohassel et al., 2021).
For a discussion of genetic heterogeneity of amyotrophic lateral sclerosis, see ALS1 (105400).|OMIM|N|
C5830362|Sarcoplasmic body myopathy (MYOSB), also known as myoglobinopathy, is an autosomal dominant disorder characterized by adult-onset muscle weakness affecting the proximal and distal muscles. Affected individuals usually present with proximal and axial muscle weakness leading to gait disturbances, although some present with hand muscle weakness and atrophy. The disorder is slowly progressive, and patients may lose ambulation after a long disease course. Some individuals develop respiratory or cardiac symptoms, often needing nocturnal ventilation. Other more variable features may include neck muscle weakness and dysphagia; facial muscle weakness is uncommon (Olive et al., 2019; Hama et al., 2022).|OMIM|N|
C5830365|Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures (NEDLBAS), is characterized by global developmental delay with variably impaired intellectual development apparent from infancy or early childhood. Affected individuals have significant speech delay, and most demonstrate behavioral abnormalities, including autistic features. About half of patients develop seizures, which may be controlled or refractory. More variable features include hypotonia, feeding difficulties, and subtle facial dysmorphism (Schalk et al., 2022).|OMIM|N|
C5830367|Multiple types of congenital heart defects-9 (CHTD9) is characterized by common arterial trunk (truncus arteriosus communis) in most patients, associated with other cardiac defects, including tetralogy of Fallot, interrupted aortic arch, right aortic arch, ventricular hypoplasia, and hypoplastic left heart, as well as other vascular and valvular anomalies (Ta-Shma et al., 2013; Guimier et al., 2023).
For a general phenotypic description and discussion of genetic heterogeneity of multiple types of congenital heart defects, see CHTD1 (see 306955).|OMIM|N|
C5830371|Autoinflammation with pulmonary and cutaneous vasculitis (AIPCV) is a disorder of immune dysregulation manifest as skin lesions (petechiae and purpura) appearing soon after birth followed by progressive pulmonary involvement causing restrictive lung disease and respiratory insufficiency. Other features may include hepatosplenomegaly and anemia (Kanderova et al., 2022).|OMIM|N|
C5830374|The mitochondrial trifunctional protein, composed of 4 alpha and 4 beta subunits, catalyzes 3 steps in mitochondrial beta-oxidation of fatty acids: long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD), long-chain enoyl-CoA hydratase, and long-chain thiolase activities. Trifunctional protein deficiency is characterized by decreased activity of all 3 enzymes. Clinically, classic trifunctional protein deficiency can be classified into 3 main clinical phenotypes: neonatal onset of a severe, lethal condition resulting in sudden unexplained infant death (SIDS; 272120), infantile onset of a hepatic Reye-like syndrome, and late-adolescent onset of primarily a skeletal myopathy (summary by Spiekerkoetter et al., 2003).
Some patients with MTP deficiency show a protracted progressive course associated with myopathy, recurrent rhabdomyolysis, and sensorimotor axonal neuropathy. These patients tend to survive into adolescence and adulthood (den Boer et al., 2003).
See mitochondrial trifunctional protein deficiency-1 (609015), caused by mutation in the HADHA gene (600890), the alpha subunit of mitochondrial trifunctional protein.|OMIM|N|
C5830375|Combined pituitary hormone deficiency-8 (CPHD8) is an autosomal dominant disorder characterized by deficiency of one or more of the pituitary hormones. Affected individuals have short stature due to growth hormone (GH; 139250) deficiency with variable deficiencies of other pituitary hormones, including TSH (see 188540), ACTH, and LH/FSH (see 118850). Posterior pituitary deficiency leading to central diabetes insipidus is rare (Bashamboo et al., 2017). Many patients are diagnosed with 'pituitary stalk interruption syndrome' (PSIS), which is characterized by a thin or absent pituitary stalk, absent or ectopic posterior pituitary, and hypoplasia of the anterior pituitary demonstrated on brain imaging, although this classic triad may be incomplete. Brauner et al. (2020) noted the complex phenotypic and genetic heterogeneity of PSIS, and concluded that it is a feature of genetic disorders or syndromes rather than a specific clinical entity.
For a discussion of genetic heterogeneity of combined pituitary hormone deficiency, see CPHD1 (613038).|OMIM|N|
C5830377|Neurooculorenal syndrome (NORS) is an autosomal recessive developmental disorder with highly variable clinical manifestations involving several organ systems. Some affected individuals present in utero with renal agenesis and structural brain abnormalities incompatible with life, whereas others present in infancy with a neurodevelopmental disorder characterized by global developmental delay and dysmorphic facial features that may be associated with congenital anomalies of the kidney and urinary tract (CAKUT). Additional more variable features may include ocular anomalies, most commonly strabismus, congenital heart defects, and pituitary hormone deficiency. Brain imaging usually shows structural midline defects, including dysgenesis of the corpus callosum and hindbrain. There is variation in the severity, manifestations, and expressivity of the phenotype, even within families (Rasmussen et al., 2018; Munch et al., 2022).|OMIM|N|
C5830385|Neurodegeneration and seizures due to copper transport defect (NSCT) is an autosomal recessive disorder of copper transport characterized by hypotonia, global developmental delay, seizures, and rapid brain atrophy (summary by Dame et al., 2023).|OMIM|N|
C5830393|Congenital myopathy-20 (CMYP20) is an autosomal recessive neuromuscular disorder that shows wide phenotypic variability. Some patients present in early childhood with proximal muscle weakness affecting the lower and upper limbs resulting in difficulties running and climbing, whereas others present soon after birth with congenital limb or distal contractures. Additional features may include dysmorphic facial features and global developmental delay. Skeletal muscle biopsy may show nemaline rods (Nilipour et al., 2018; Pehlivan et al., 2019).
For a discussion of genetic heterogeneity of congenital myopathy, see CMYP1A (117000).|OMIM|N|
C5830399|Premature ovarian failure-21 (POF21) is characterized by female infertility due to primary or secondary amenorrhea. Ovaries are small, atrophic, or nonvisualized on ultrasound (Tucker et al., 2019; Tucker et al., 2022).
For a general phenotypic description and a discussion of genetic heterogeneity of POF, see POF1 (311360).|OMIM|N|
C5830404|Leukoencephalopathy with vanishing white matter-2 (VWM2) is a chronic and progressive autosomal recessive leukoencephalopathy characterized by neurologic deterioration with cerebellar ataxia, spasticity, and relatively mild mental decline. Severity ranges from onset at birth with death in infancy to mild cases with later and even adult onset. Initial development may be normal. Episodes of rapid deterioration occur following febrile infection or minor head trauma. Death occurs after a variable period usually of a few years to a few decades, usually following an episode of fever and coma. Affected females may have ovarian failure manifest as primary or secondary amenorrhea. Magnetic resonance imaging (MRI) and magnetic resonance spectroscopy are diagnostic and show a diffuse abnormality of the cerebral white matter beginning in the presymptomatic stage, with increasing amounts of the abnormal white matter vanishing and being replaced by cerebrospinal fluid; autopsy confirms these findings (summary by Leegwater et al., 2001, van der Knaap et al., 2003).
For a discussion of genetic heterogeneity of VWM, see 603896.|OMIM|N|
C5830405|Leukoencephalopathy with vanishing white matter-3 (VWM3) is an autosomal recessive leukoencephalopathy characterized by progressive cerebellar ataxia, spasticity, and mental decline. The course is chronic and progressive, with episodes of rapid deterioration following minor head trauma. Affected females may have amenorrhea. Magnetic resonance imaging (MRI) reveals diffuse leukoencephalopathy with lesions having cerebrospinal fluid (CSF)-like signals (summary by Matsukawa et al., 2011).
For a discussion of genetic heterogeneity of VWM, see 603896.|OMIM|N|
C5830406|Leukoencephalopathy with vanishing white matter-4 (VWM4) is a chronic and progressive autosomal recessive leukoencephalopathy characterized by neurologic deterioration with cerebellar ataxia, spasticity, and relatively mild mental decline. Onset is usually in childhood; early development may be normal. Female patients may experience ovarian failure. Magnetic resonance imaging (MRI) and magnetic resonance spectroscopy are diagnostic and show a diffuse abnormality of the cerebral white matter beginning in the presymptomatic stage, with increasing amounts of the abnormal white matter vanishing and being replaced by cerebrospinal fluid; autopsy confirms these findings (summary by van der Knaap et al., 2002, Fogli et al., 2003).
For a discussion of genetic heterogeneity of VWM, see 603896.|OMIM|N|
C5830407|Complex cortical dysplasia with other brain malformations-12 (CDCBM12) is an autosomal recessive disorder of developmental neuronal migration characterized by severe to profound neurodevelopmental delay with absent speech, central hypotonia, peripheral spasticity, cortical visual impairment, and dysmorphic craniofacial features. Affected individuals usually have feeding difficulties and show minimal developmental progress of motor or cognitive skills. Most have microcephaly and develop early-onset refractory seizures. Brain imaging shows cortical abnormalities, such as lissencephaly and pachygyria, as well as other brain malformations, including thin or absent corpus callosum, dysplastic basal ganglia, and mild cerebellar hypoplasia. Due to the function of CAMSAP1 in microtubule stability and maintenance, this disorder can be classified as a 'tubulinopathy' (Khalaf-Nazzal et al., 2022).
For a discussion of genetic heterogeneity of CDCBM, see CDCBM1 (614039).|OMIM|N|
C5830413|Neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities (NEDMSBA) is an autosomal recessive disorder characterized by global developmental delay, hypotonia, delayed or absent walking, impaired intellectual development, and poor or absent speech, apparent from early infancy. Affected individuals have postnatal progressive microcephaly and may show poor overall growth and dysmorphic facial features. Additional more variable features include cortical visual impairment, seizures, hypotonia, spasticity, and sensorineural deafness. Brain imaging is abnormal in most patients, showing myelination defects, cortical atrophy, or thin corpus callosum. There is phenotypic variability, even within families (Bogershausen et al., 2022; Lin et al., 2022).|OMIM|N|
C5830418|Oocyte/zygote/embryo maturation arrest-17 (OZEMA17) is characterized by female infertility due to arrest of the embryo after the first rounds of cleavage or failure to establish pregnancy after implantation (Wang et al., 2023).
For a discussion of genetic heterogeneity of OZEMA, see 615774.|OMIM|N|
C5830421|Benign familial hematuria (BFH) is an autosomal dominant condition manifest as nonprogressive isolated microscopic hematuria that does not result in renal failure. It is characterized pathologically by thinning of the glomerular basement membrane (GBM), and can be considered the mildest end of the spectrum of renal diseases due to type IV collagen defects of the basement membrane. The most severe end of the spectrum is represented by Alport syndrome (see 301050), which results in end-stage renal failure and may be associated with hearing loss and ocular anomalies (review by Lemmink et al. (1996)).
For a discussion of genetic heterogeneity of BFH, see BFH1 (141200).|OMIM|N|
C5830422|C1q deficiency (C1QD) is a rare autosomal recessive disorder characterized by recurrent skin lesions, chronic infections, and an increased risk of autoimmune diseases, particularly systemic lupus erythematosus (SLE; see 152700) or SLE-like diseases. It has also been associated with chronic glomerulonephritis and renal failure. C1q deficiency presents in 2 different forms, absent C1q protein or presence of a dysfunctional molecule (summary by Topaloglu et al., 1996 and Vassallo et al., 2007).
For a discussion of genetic heterogeneity of C1q deficiency, see 613652.|OMIM|N|
C5830423|C1q deficiency (C1QD) is a rare autosomal recessive disorder characterized by recurrent skin lesions, chronic infections, and an increased risk of autoimmune diseases, particularly systemic lupus erythematosus (SLE; see 152700) or SLE-like diseases. It has also been associated with chronic glomerulonephritis and renal failure. C1q deficiency presents in 2 different forms, absent C1q protein or presence of a dysfunctional molecule (summary by Topaloglu et al., 1996 and Vassallo et al., 2007).
For a discussion of genetic heterogeneity of C1q deficiency, see 613652.|OMIM|N|
C5830424|Congenital myopathy-21 with early respiratory failure (CMYP21) is an autosomal recessive muscle disorder associated with diaphragmatic weakness and spinal rigidity. The age at symptom onset is highly variable, ranging from infancy to adulthood; the severity of the respiratory impairment, which can lead to death in the most severe cases, is also variable. Additional features, including developmental delay and hypertrophic cardiomyopathy, have been observed in one patient each (Weihl et al., 2023; Al-Kasbi et al., 2022).
For a discussion of genetic heterogeneity of congenital myopathy, see CMYP1A (117000).|OMIM|N|
C5830433|Neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities (NDDRSB) is a severe autosomal recessive disorder characterized by onset of these features in infancy. Affected individuals present with respiratory failure requiring intubation soon after birth; some die due to cardiorespiratory insufficiency. Those that survive show severe global developmental delay, refractory myoclonic seizures, hyperkinetic movements with exaggerated startle response, and microcephaly with dysmorphic features. Additional findings may include sensorineural hearing loss and ocular defects. Brain imaging shows variable abnormalities consistent with progressive neurodegeneration (Cali et al., 2022).|OMIM|N|
C5830437|Autosomal dominant intellectual developmental disorder-71 with behavioral abnormalities (MRD71) is a neurodevelopmental disorder characterized by global developmental delay with hypotonia, speech delay, and variably impaired cognitive development. Almost all affected individuals show marked behavioral manifestations, including autism spectrum disorder (ASD), ADHD, hypersensitivity, and aggression. Many have dysmorphic features, although there is not a common gestalt (Harris et al., 2021).|OMIM|N|
C5830439|Hatipoglu immunodeficiency syndrome (HATIS) is an autosomal recessive immunologic disorder characterized by childhood onset of failure to thrive, skin manifestations, pancytopenia, and susceptibility to recurrent infections (Harapas et al., 2022).|OMIM|N|
C5830441|Oocyte/zygote/embryo maturation arrest-18 (OZEMA18) is characterized by female infertility due to early embryonic arrest. Most oocytes can be fertilized and begin cleavage, but very few viable embryos are obtained and most fail to establish pregnancy (Mu et al., 2019).
For a discussion of genetic heterogeneity of OZEMA, see 615774.|OMIM|N|
C5830442|Oocyte/zygote/embryo maturation arrest-19 (OZEMA19) is characterized by female infertility due to oocyte maturation arrest and early embryonic arrest. Oocyte arrest at the germinal vesicle stage has been observed. In other patients, most oocytes can be fertilized and begin cleavage, but they undergo maturation arrest at the 2- to 7-cell stage on day 3 (Mu et al., 2019; Huang et al., 2022).
For a discussion of genetic heterogeneity of OZEMA, see 615774.|OMIM|N|
C5830446|Cone-rod dystrophy-24 (CORD24) is characterized by night blindness, defective color vision, and reduced visual acuity. Macular atrophy, macular pigmentation deposits, and drusen-like deposits in the macula have been observed. Age at onset varies widely, from the first to the sixth decades of live (Kobayashi et al., 2000; Huang et al., 2013; Zenteno et al., 2023).
For a general phenotypic description and discussion of genetic heterogeneity of CORD, see CORD2 (120970).|OMIM|N|
C5830451|The basal cell nevus syndrome (BCNS), also known as Gorlin syndrome, is characterized by numerous basal cell cancers and epidermal cysts of the skin, calcified dural folds, keratocysts of the jaws, palmar and plantar pits, ovarian fibromas, medulloblastomas, lymphomesenteric cysts, fetal rhabdomyomas, and various stigmata of maldevelopment (e.g., rib and vertebral abnormalities, cleft lip or cleft palate, and cortical defects of bones) (summary by Koch et al., 2002).
For a discussion of genetic heterogeneity of BCNS, see BCNS1 (109400).|OMIM|N|
C5830452|Prolonged electroretinal response suppression-2 (PERRS2), also referred to as bradyopsia-2, is an autosomal recessive childhood-onset retinopathy characterized by markedly delayed dark and light adaptation, mild photophobia, difficulty seeing moving objects, moderately reduced visual acuity, normal color vision, normal fundi, and reduced rod and cone responses with prolonged recovery on electrophysiologic assessment (summary by Michaelides et al., 2010).
For a discussion of genetic heterogeneity of prolonged electroretinal response suppression (PERRS), see 608415.|OMIM|N|
C5830453|Classic congenital myopathy-22A (CMYP22A) is an autosomal recessive muscle disorder characterized by onset of muscle weakness in utero or soon after birth. Early features may include fetal hypokinesia, breech presentation, and polyhydramnios. Affected individuals are born with severe hypotonia and require respiratory and feeding assistance. Those who survive the neonatal period show a 'classic' phenotype of congenital myopathy with delayed motor development, difficulty walking, proximal muscle weakness of the upper and lower limbs, facial and neck muscle weakness, easy fatigability, and mild limb contractures or foot deformities. Some have persistent respiratory insufficiency; dysmorphic facial features may be present (Zaharieva et al., 2016).
For a discussion of genetic heterogeneity of congenital myopathy, see CMYP1A (117000).|OMIM|N|
C5830459|Developmental and epileptic encephalopathy-31B (DEE31B) is an autosomal recessive neurologic disorder with early-onset epilepsy, generalized muscular hypotonia, visual impairment, and severe neurodevelopmental delay (Yigit et al., 2022).|OMIM|N|
C5830468|Spermatogenic failure-82 (SPGF82) is characterized by male infertility due to multiple morphologic abnormalities of the sperm flagella (Liu et al., 2023).
For a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).|OMIM|N|
C5830470|Spermatogenic failure-83 (SPGF83) is characterized by male infertility due to asthenozoospermia. Patient sperm are immotile, and exhibit an asymmetric fibrous sheath of the flagella (Wu et al., 2023).
For a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).|OMIM|N|
C5830473|Primary ciliary dyskinesia-50 (CILD50) is characterized by chronic sinusitis and bronchitis as well as male infertility. Patient sperm have markedly reduced progressive motility, and multiple morphologic abnormalities of the flagella (MMAF) have been observed. Ultrastructurally, patients exhibit defects or loss of the inner dynein arms of the sperm flagella (Wei et al., 2021; Gao et al., 2022).
For a general phenotypic description and discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400).|OMIM|N|
C5830477|Diarrhea-13 (DIAR13) is characterized by neonatal onset of recurrent vomiting and chronic watery diarrhea, resulting in severe failure to thrive. Supportive treatment includes medium-chain triglyceride (MCT)-based formula and/or total parenteral nutrition (TPN), and symptoms resolve after the age of 18 months (Al-Thihli et al., 2021).
For a discussion of genetic heterogeneity of congenital diarrhea, see DIAR1 (214700).|OMIM|N|
C5830480|Mitochondrial complex V deficiency nuclear type 4A (MC5DN4A) is an autosomal dominant metabolic disorder characterized by poor feeding and failure to thrive in early infancy. Laboratory studies show increased serum lactate, alanine, and ammonia, suggesting mitochondrial dysfunction. Some affected individuals show spontaneous resolution of these symptoms in early childhood and have subsequent normal growth and development, whereas others show developmental delay with impaired intellectual development and movement abnormalities, including dystonia, ataxia, or spasticity; these neurologic deficits are persistent (Lines et al., 2021, Zech et al., 2022).
For a discussion of genetic heterogeneity of mitochondrial complex V deficiency, nuclear types, see MC5DN1 (604273).|OMIM|N|
C5830482|Mitochondrial complex V deficiency nuclear type 7 (MC5DN7) is an autosomal recessive disorder characterized by hypotonia and global developmental delay apparent soon after birth. More variable features include poor growth, seizures, dystonia, hypertrophic cardiomyopathy, and brain imaging abnormalities. Some affected individuals die in infancy or childhood (Zech et al., 2022, Ganapathi et al., 2022).
For a discussion of genetic heterogeneity of mitochondrial complex V deficiency, nuclear types, see MC5DN1 (604273).|OMIM|N|
C5830485|Telomere-related pulmonary fibrosis and/or bone marrow failure syndrome-7 (PFBMFT7) is an autosomal dominant disorder characterized by variable manifestations associated with shortened telomeres. Features can include pulmonary fibrosis, emphysema, anemia, lymphopenia, liver involvement with portal hypertension and hepatopulmonary syndrome, premature graying of the hair, nail dystrophy, and predisposition to squamous cell cancers or myelodysplasia (Stanley et al., 2016).
For a discussion of genetic heterogeneity of telomere-related pulmonary fibrosis and/or bone marrow failure syndromes, see PFBMFT1 (614742).|OMIM|N|
C5830487|Autosomal recessive osteopetrosis-9 (OPTB9) is characterized by increased bone density and bone fragility, as well as renal failure. Vision may be compromised due to compression of the optic nerve secondary to osteopetrotic stenosis of the optic nerve canal (Xue et al., 2022).
For a general phenotypic description and discussion of genetic heterogeneity of autosomal recessive osteopetrosis, see OPTB1 (259700).|OMIM|N|
C5830496|Telomere-related pulmonary fibrosis and/or bone marrow failure syndrome-8 (PFBMFT8) is an autosomal dominant disorder characterized by the onset of progressive pulmonary fibrosis in adulthood. Some affected individuals have signs of bone marrow failure, such as thrombocytopenia, or liver dysfunction, including hepatopulmonary syndrome. Other features of dyskeratosis congenita, including premature graying of the hair, may be observed. Telomeres are shortened compared to controls (Kelich et al., 2022).
For a  discussion of genetic heterogeneity of telomere-related pulmonary fibrosis and/or bone marrow failure, see PFBMFT1 (614742).|OMIM|N|
C5830497|Cerebroretinal microangiopathy with calcifications and cysts-3 (CRMCC3) is an autosomal recessive disorder characterized by intrauterine growth retardation, retinal exudates, intracranial calcifications, and leukoencephalopathy. Additional features may include global developmental delay and gastrointestinal ectasias. Telomeres may be elongated, but truncated shortened telomeres are present in some tissues (Takai et al., 2016).
For a discussion of genetic heterogeneity of CRMCC, see CRMCC1 (612199).|OMIM|N|
C5830501|Severe fetal congenital myopathy-22B (CMYP22B) is an autosomal recessive muscle disorder characterized by in utero onset of severe muscle weakness manifest as fetal akinesia. The pregnancies are often complicated by polyhydramnios, and affected individuals develop fetal hydrops with pulmonary hypoplasia, severe joint contractures, and generalized muscle hypoplasia. Those who are born have respiratory failure resulting in death. Dysmorphic facial features may be present. The features in these patients overlap with fetal akinesia deformation sequence (FADS; see 208150) and lethal congenital contractures syndrome (LCCS; see 253310) (Zaharieva et al., 2016).
For a discussion of genetic heterogeneity of congenital myopathy, see CMYP1A (117000).|OMIM|N|
C5830504|RECON progeroid syndrome (RECON) is a chromosomal instability disorder characterized by postnatal growth retardation, progeroid facial appearance, hypoplastic nose, prominent premaxilla, skin photosensitivity and xeroderma, muscle wasting with reduced subcutaneous fat, and slender elongated thumbs (Abu-Libdeh et al., 2022).|OMIM|N|
C5830509|Neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity (NEDIHSS) is an autosomal recessive disorder characterized by prenatal or neonatal onset of intracranial hemorrhage, usually with ventriculomegaly and calcifications, resulting in parenchymal brain damage. Some affected individuals have symptoms incompatible with life and die in utero. Those that survive show profound global developmental delay with almost no motor or cognitive skills, hypotonia, spasticity, and seizures. Other features may include facial dysmorphism, retinal vascular abnormalities, and poor overall growth. The pathogenesis of the disease likely results from dysfunction of vascular endothelial cells in the brain (Lecca et al., 2023).|OMIM|N|
C5830511|Hypersulfaturia (HYSULF) is an autosomal recessive condition characterized by increased urinary sulfate excretion due to defective renal sulfate reabsorption. The single reported patient with this condition presented with adult-onset perichondritis of the costovertebral joints (Pfau et al., 2023).|OMIM|N|
C5830516|Calcium oxalate nephrolithiasis-2 with or without nephrocalcinosis (CAON2) is an autosomal dominant disorder of renal function characterized by the recurrent formation of CaOx kidney stones. The age at onset is highly variable, ranging from childhood to adult. Most affected individuals have concurrent nephrocalcinosis. Renal function is generally preserved (Majmundar et al., 2023).
See also CAON1 (167030).|OMIM|N|
C5830518|Autosomal recessive limb-girdle muscular dystrophy-28 (LGMDR28) is characterized by progressive muscle weakness affecting the proximal and axial muscles of the upper and lower limbs. The age at onset is highly variable, usually in the first decade, although onset in the fourth decade has also been reported. The disorder can be rapidly progressive or show a slower course. Most patients have limited ambulation or become wheelchair-bound within a few decades, and respiratory insufficiency commonly occurs. Laboratory studies show increased serum creatine kinase and elevated fasting blood glucose levels, although cholesterol is normal. EMG shows a myopathic pattern; muscle biopsy is generally unremarkable, but can show nonspecific myopathic or dystrophic features (Yogev et al., 2023; Morales-Rosado et al., 2023).
For a discussion of genetic heterogeneity of autosomal recessive limb-girdle muscular dystrophy, see LGMDR1 (253600).|OMIM|N|
C5830525|Systemic autoinflammatory disease with vasculitis (SAIDV) is an autosomal dominant disorder that manifests soon after birth with features such as purpuric skin rash, fever, hepatosplenomegaly, and elevated C-reactive protein (CRP; 123260). Laboratory studies may show leukocytosis, thrombocytopenia, and autoantibodies. A subset of patients develop progressive liver involvement that may result in fibrosis. Other systemic features, such as periorbital edema, conjunctivitis, infections, abdominal pain, and arthralgia are usually observed. Mutations occur de novo. De Jesus et al. (2023) referred to this disorder as LAVLI (LYN kinase-associated vasculopathy and liver fibrosis).|OMIM|N|
C5830531|Autosomal recessive spastic paraplegia-89 (SPG89) is characterized by symptom onset in the first years of life. Affected individuals show delayed motor development with abnormal spastic gait and hyperreflexia of the lower limbs. Some patients may have mildly impaired intellectual development or learning difficulties (Deng et al., 2023).
For a discussion of genetic heterogeneity of autosomal recessive SPG, see SPG5A (270800).|OMIM|N|
C5830539|Oocyte/zygote/embryo maturation arrest-20 (OZEMA20) is characterized by early embryonic arrest with fragmentation. Extrusion of a large polar body 1 is observed in some patients (Zhang et al., 2021; Zhang et al., 2022).
For a discussion of genetic heterogeneity of OZEMA, see 615774.|OMIM|N|
C5830542|Autosomal dominant auditory neuropathy-2 (AUNA2) is characterized by postlingual onset of progressive bilateral sensorineural hearing loss in the second decade, leading to profound deafness in the fifth decade. Affected individuals show abnormal auditory brainstem responses (ABR) even before the onset of symptoms. Outer hair cell (OHC) function is preserved initially, but declines with age (Lang-Roth et al., 2017).
For a discussion of genetic heterogeneity of autosomal dominant auditory neuropathy, see AUNA1 (609129).|OMIM|N|
C5830545|Autosomal recessive childhood-onset nemaline myopathy-5B (NEM5B) is a skeletal muscle disorder in which patients usually present with proximal muscle weakness of the lower and upper limbs in a limb-girdle distribution, resulting in gait abnormalities; however, most remain ambulatory even into late adulthood. Some affected individuals show delayed motor development. There is axial weakness and atrophy of the paraspinal muscles, along with kyphosis, scoliosis, and rigid spine, as well as variable limitations of the large joints. Most patients develop restrictive respiratory insufficiency with decreased forced vital capacity; some need noninvasive ventilation. Serum creatine kinase may be elevated. Muscle biopsy can show variable features, including nemaline rods, multiminicore lesions, endomysial fibrosis, and myofibrillar changes (Pellerin et al., 2020; Lee et al., 2022).
For a discussion of genetic heterogeneity of nemaline myopathy, see NEM2 (256030).|OMIM|N|
C5830549|Autosomal dominant nemaline myopathy-5C (NEM5C) is a relatively mild skeletal muscle disorder with wide clinical variability, even within families. Affected individuals develop symptoms of muscle weakness in the first or second decades; those with earlier onset tend to have a more severe disease course. Features include difficulty walking on the heels, waddling gait, proximal muscle weakness affecting the upper and lower limbs, and Gowers sign. Additional features may include myopathic facies, high-arched palate, scoliosis or kyphosis, and ankle weakness. Patients remain ambulatory into late adulthood. Skeletal muscle biopsy shows hypotrophy of type 1 fibers, hypertrophy of type 2 fibers, fiber size variation, and myofibrillar disorganization. Nemaline rods in type 1 fibers are often observed, but are not always present (Konersman et al., 2017; Holling et al., 2022).
For a discussion of genetic heterogeneity of nemaline myopathy, see NEM2 (256030).|OMIM|N|
C5830553|Autosomal recessive intellectual developmental disorder-79 (MRT79) is characterized by global developmental delay apparent from infancy. Affected individuals have mildly delayed walking with an ataxic gait and severely impaired intellectual development with poor or absent speech. Additional features may include postnatal microcephaly and dysmorphic features (Van Bergen et al., 2022).|OMIM|N|
C5830559|Glycine encephalopathy (GCE), also called nonketotic hyperglycinemia (NKH), is an inborn error of metabolism characterized by accumulation of a large amount of glycine in body fluids. Typical cases have severe neurologic features, including seizures, lethargy, and muscular hypotonia soon after birth, and most die with the neonatal period; atypical cases have later onset and less severe psychomotor development (summary by Nanao et al., 1994).
For a general description and a discussion of genetic heterogeneity of glycine encephalopathy, see GCE1 (605899).|OMIM|N|
C5830560|Telomere-related pulmonary fibrosis and/or bone marrow failure syndrome-9 (PFBMFT9) is an autosomal dominant short telomere syndrome characterized by the development of pulmonary fibrosis or hematologic abnormalities, including leukopenia and leukemia, in adulthood. Liver disease may also be present. There is incomplete penetrance and evidence of genetic anticipation. Affected individuals have shortened telomeres, but do not show mucocutaneous manifestations (Kannengiesser et al., 2020).
For a discussion of genetic heterogeneity of telomere-related pulmonary fibrosis and/or bone marrow failure, see PFBMFT1 (614742).|OMIM|N|
C5830562|Spermatogenic failure-84 (SPGF84) is characterized by male infertility due to multiple morphologic abnormalities of the sperm flagella (MMAF), including irregular-caliber, bent, coiled, absent, or short tails, resulting in severely reduced motility. Some patients also have a reduced sperm count (Liu et al., 2021; Hu et al., 2023).
For a general phenotypic description and discussion of genetic heterogeneity of SPGF, see SPGF1 (258150).|OMIM|N|
C5830568|Epidermolytic palmoplantar keratoderma-2 (EPPK2) is an autosomal dominant skin disorder in which affected individuals have hyperkeratosis restricted to palms and soles present from birth or childhood (Hatsell et al., 2001; Nakamizo et al., 2023).
In some individuals with EPPK2, keratoderma involving the palms and soles extends to the dorsal surfaces of the hands and feet and involves the skin over the Achilles tendon (transgrediens), a phenotype known as Greither syndrome (Gach et al., 2005).
For a discussion of genetic heterogeneity of epidermolytic palmoplantar keratoderma, and of palmoplantar keratoderma in general, see 144200.|OMIM|N|
C5830574|Autosomal dominant spastic paraplegia-90A (SPG90A) is characterized by motor impairment and progressive lower extremity spasticity as well as neurologic findings, cognitive impairment, and hearing loss (Srivastava et al., 2023).
For a discussion of genetic heterogeneity of autosomal dominant SPG, see SPG3A (182600).|OMIM|N|
C5830578|Autosomal recessive spastic paraplegia-90B (SPG90B) is characterized by motor impairment and progressive lower extremity spasticity as well as neurologic findings, cognitive impairment, and hearing loss (Srivastava et al., 2023).
For a discussion of genetic heterogeneity of autosomal recessive SPG, see SPG5A (270800).|OMIM|N|
C5830579|Retinitis pigmentosa-97 (RP97) is characterized by onset of night blindness and visual field defects in the first decade of life, with later onset of reduced visual acuity (Kong et al., 2023).
For a general phenotypic description and a discussion of genetic heterogeneity of RP, see 268000.|OMIM|N|
C5830586|Mitochondrial dysfunctions syndrome-7 (MMDS7) is an autosomal recessive disorder characterized by a clinical spectrum ranging from neonatal fatal glycine encephalopathy to an attenuated phenotype of developmental delay, behavioral problems, limited epilepsy, and variable movement problems (Arribas-Carreira et al., 2023).
For a general description and a discussion of genetic heterogeneity of multiple mitochondrial dysfunctions syndrome, see MMDS1 (605711).|OMIM|N|
C5830590|Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis-2 (CHINE2) is an autosomal recessive syndromic disorder characterized by onset of this constellation of features in infancy, resulting in death in early childhood. Telomeres are shortened, but classic mucocutaneous features of DKCB1 are not typically observed. CHINE2 is due to a ribosomal pseudouridylation defect (Balogh et al., 2020).
See also CHINE1 (301108), caused by mutation in the DKC1 gene (300126).|OMIM|N|
C5830592|Early-onset dystonia-37 with striatal lesions (DYT37) is an autosomal recessive neurologic movement disorder characterized by the onset of progressive dystonia, dysphagia, and choreoathetosis in the first months or years of life. Affected individuals show delayed motor development and may have impaired intellectual development. The disorder is severely disabling; patients lose ambulation and require tube-feeding. Brain imaging shows hyperintense lesions affecting the basal ganglia and striatum (Harrer et al., 2023).|OMIM|N|
C5830596|Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities (NEDMLOB) is an autosomal recessive neurologic disorder characterized by the onset of features in infancy or early childhood. Affected individuals show hypotonia, severe motor delay with ataxic gait or sometimes an inability to achieve walking, and impaired intellectual development with speech and language delay. Ocular defects can include optic atrophy, nystagmus, strabismus, and retinal dystrophy. Additional features may include seizures (in some), dysmorphic facial features, poor overall growth, and variable brain imaging abnormalities (Tepe et al., 2023).|OMIM|N|
C5830600|Infantile-onset multisystem autoimmune disease-3 (ADMIO3) is an autosomal recessive disorder of immune dysregulation characterized by the onset of various systemic autoimmune manifestations in the first months or years of life. Features may include hypothyroidism, type 1 diabetes mellitus, systemic inflammatory manifestations (fever, hepatomegaly), and autoimmune cytopenias. Laboratory studies show normal levels of T, B, and NK cells, but CD4+ (see 186940) T cells demonstrate hyperproliferation when stimulated in vitro (Janssen et al., 2022).
For a discussion of genetic heterogeneity of ADMIO, see ADMIO1 (615952).|OMIM|N|
C5830608|Primary ciliary dyskinesia-51 (CILD51) is characterized by male infertility due to multiple morphologic abnormalities of the sperm flagella (MMAF), resulting in severely reduced progressive motility. Some men also have a low sperm count. In addition, affected individuals experience chronic rhinosinusitis and bronchitis, and recurrent upper and lower respiratory infections, and some exhibit dextrocardia and/or situs inversus (Guo et al., 2021).
For a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400).|OMIM|N|
C5830612|Autosomal dominant intellectual developmental disorder-72 (MRD72) is characterized by developmental delay, predominant speech delay, autistic or attention-deficit/hyperactivity disorder features, overfriendliness, generalized hypotonia, overweight/obesity, and dysmorphic features (Cuinat et al., 2022).|OMIM|N|
C5830615|Individuals with mutation in the PALB2 gene have an increased risk of developing breast or, to a lesser degree, ovarian cancer. In addition, PALB2 variants increase susceptibility to several other cancers, e.g., male breast cancer and pancreatic cancer (PNCA3; 613348) (Rahman et al., 2007; Norquist et al., 2018; Yang et al., 2020).
For a discussion of genetic heterogeneity of breast-ovarian cancer susceptibility, see BROVCA1 (604370).
For general discussions of breast cancer and ovarian cancer, see 114480 and 167000, respectively.
Reviews
Hamdan and Nowak (2023) reviewed the structure and function of the PALB2 gene, and its role in disease, including Fanconi anemia (FANCN; 610832), pancreatic cancer (PNCA3; 613348), and breast and ovarian cancer.|OMIM|N|
C5830624|Neurodevelopmental disorder with microcephaly and movement abnormalities (NEDMIM) is an autosomal recessive disorder characterized by global developmental delay, impaired intellectual development with poor or absent speech, and delayed walking with an abnormal gait. Affected individuals may show hypotonia or hypertonia with spasticity, ataxia, and choreoathetoid movements. Most patients have microcephaly and short stature. Ophthalmic features, behavioral abnormalities, and nonspecific dysmorphic features are commonly observed. Additional more variable features include seizures, brain imaging abnormalities, and skeletal defects (Serey-Gaut et al., 2023).|OMIM|N|
C5830625|Megalencephalic leukoencephalopathy with subcortical cysts-3 (MLC3) is a neurodegenerative disorder characterized by increased head circumference in infancy followed by progressive motor and cognitive decline in early childhood. Affected individuals either do not achieve walking or lose independent ambulation in the first or second decades. Cognitive impairment is variable and accompanied by poor speech and dysarthria. Most patients have early-onset seizures, which may be mild or refractory. Brain imaging shows unremitting megalencephalic leukoencephalopathy with subcortical cysts and swelling of the cerebral white matter (Passchier et al., 2023).
For a discussion of genetic heterogeneity of megalencephalic leukoencephalopathy with subcortical cysts, see MLC1 (604004).|OMIM|N|
C5830628|Remitting megalencephalic leukoencephalopathy with subcortical cysts-4 (MLC4) is an autosomal recessive neurologic disorder characterized by macrocephaly in infancy associated with developmental delay, delayed walking, variable cognitive decline, behavioral abnormalities, and early-onset seizures. The severity of neurologic dysfunction is variable, even within a family, but tends to show improvement with time. Brain imaging shows swelling of the cerebral white matter and subcortical cysts in the anterior temporal region, consistent with MLC. Brain imaging abnormalities also tend to improve with time, indicating a remitting disease course (Passchier et al., 2023).
For a discussion of genetic heterogeneity of megalencephalic leukoencephalopathy with subcortical cysts, see MLC1 (604004).|OMIM|N|
C5830633|Immunodeficiency-112 (IMD112) is an autosomal recessive primary immunologic disorder with variable manifestations beginning in early childhood. Some patients have recurrent bacterial, viral, and fungal infections, including disseminated bacillus Calmette-Guerin (BCG)-related infections, whereas at least 1 patient only presented with BCG-related infections. Immunologic workup shows variable abnormalities affecting lymphoid immunity, including hypogammaglobulinemia, lymphopenia or paradoxical lymphocytosis, and defects in B, T, and NK cell differentiation and function mainly due to disruption of the noncanonical NFKB (see 164011) signaling pathway (Willmann et al., 2014; Schlechter et al., 2017).|OMIM|N|
C5830636|Autosomal dominant intellectual developmental disorder-73 (MRD73) is a highly variable neurodevelopmental disorder characterized by impaired intellectual development that ranges from mild to severe, speech delay, behavioral abnormalities, and nonspecific dysmorphic facial features (Janssen et al., 2022).|OMIM|N|
C5830641|Combined oxidative phosphorylation deficiency-58 (COXPD58) is an autosomal recessive disorder characterized by a wide range of clinical presentations including neonatal lactic acidosis, epileptic encephalopathy, developmental delay and impaired intellectual development with nonspecific changes on brain MRI, or mitochondrial myopathy with a treatable neuromuscular transmission defect (Van Haute et al., 2023).
For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060).|OMIM|N|
C5830642|Amyotrophic lateral sclerosis-28 (ALS28) is an autosomal dominant neurodegenerative disorder characterized by adult onset of slowly progressive limb muscle weakness and atrophy resulting in gait difficulties, loss of ambulation, and distal upper limb weakness. Facial involvement is rare, but some patients may have respiratory insufficiency. EMG and muscle biopsy show active and chronic denervation. Patient-derived motor neurons show accumulation of TDP43 (605078) and toxic intranuclear RNA accumulation (Kume et al., 2023).
For discussion of genetic heterogeneity of amyotrophic lateral sclerosis, see ALS1 (105400).|OMIM|N|
C5830645|Juvenile-onset dystonia-22 (DYT22JO) is an autosomal recessive disorder characterized by progressive, generalized dystonia associated with cognitive decline and cerebellar atrophy on brain imaging (Mencacci et al., 2021).|OMIM|N|
C5830651|Congenital disorder of glycosylation type IIaa (CDG2AA) is an autosomal recessive disorder characterized by infantile mortality due to liver disease, skeletal abnormalities, and protein glycosylation defects (Linders et al., 2021).
For an overview of congenital disorders of glycosylation, see CDG1A (212065) and CDG2A (212066).|OMIM|N|
C5830654|Neurodevelopmental disorder with hypotonia and speech delay, with or without seizures (NEDHSS) is characterized by global developmental delay, impaired intellectual development with poor or absent speech, and fine and gross motor delay. Most affected individuals are severely affected and may be unable to walk, have feeding difficulties requiring tube-feeding, and develop early-onset seizures. Additional features may include cortical blindness and nonspecific structural brain abnormalities. Rare individuals present only with hypotonia and mild developmental delay (Paul et al., 2023).|OMIM|N|
C5830658|Adult-onset dystonia-22 (DYT22AO) is an autosomal recessive disorder characterized by focal dystonia or tremor and mild cognitive impairment (Mencacci et al., 2021).|OMIM|N|
C5830659|Auriculocondylar syndrome-4 (ARCND4) is characterized by malformed ears, round face, puffy cheeks, micrognathia, microstomia, malocclusion, and abnormal mandibular condyles with temporomandibular joint abnormalities. Patients may also experience conductive hearing loss (Masotti et al., 2008).
For a general phenotypic description and a discussion of genetic heterogeneity of auriculocondylar syndrome, see ARCND1 (602483).|OMIM|N|
C5830664|ARCND2B is characterized by the typical features of auriculocondylar syndrome, including the pathognomonic question mark ears, consisting of a variable degree of clefting between the helix and earlobe, as well as hypoplasia of the mandibular condyle, temporomandibular joint abnormalities, micrognathia, microstomia, glossoptosis, and a round facial appearance with prominent cheeks. Patients have difficulty chewing, respiratory abnormalities, snoring, and obstructive and central apneas. In addition, they experience severe gastrointestinal problems, including feeding difficulties with failure to thrive, gastroesophageal reflux, and chronic constipation, and male patients show macropenis whereas female patients may exhibit clitoromegaly (summary by Leoni et al., 2016).
Heterozygous mutation in the PLCB4 gene also causes an autosomal dominant form of auriculocondylar syndrome (see ARCND2A, 614669).
For a discussion of genetic heterogeneity of auriculocondylar syndrome, see ARCND1 (602483).|OMIM|N|
C5830676|Birt-Hogg-Dube syndrome-2 (BHD2) is characterized by lipomatosis and fibrofolliculomas as well as renal cell carcinoma and other cancers (van de Beek et al., 2023).
For a general phenotypic description and a discussion of genetic heterogeneity of BHD, see BHD1 (135150).|OMIM|N|
C5830682|Oculopharyngeal muscular dystrophy-2 (OPMD2) is an autosomal dominant muscle disorder characterized by early-onset ptosis, ophthalmoplegia, dysphagia, variable respiratory insufficiency, and proximal limb muscle weakness. Most patients have onset in the first years of life, although rare patients have onset in their teens. The disorder is slowly progressive and the severity is highly variable; the most severely affected individuals lose ambulation and may require tube-feeding or noninvasive ventilation (Kim et al., 2022).
For a discussion of genetic heterogeneity of OPMD, see OPMD1 (164300).|OMIM|N|
C5830685|Dilated cardiomyopathy-2I (CMD2I) is characterized by early-onset severe congestive heart failure. Some patients experience supraventricular tachycardia. Structural heart defects and nemaline bodies in cardiac and skeletal muscle have been observed (Aspit et al., 2019; Cheema et al., 2020; Gurunathan et al., 2022).
For a general phenotypic description and discussion of genetic heterogeneity of dilated cardiomyopathy, see 115200.|OMIM|N|
C5847541|A group dysfunction of the thoracic and lumbar vertebrae. These vertebrae are neutral relative to the sagittal plane and demonstrate a preference for sidebending and rotation in opposite directions, (e.g. sidebent right and rotated left or sidebent left and rrotated right).|SNOMEDCT_US|N|
C5847542|A single segmental dysfunction of the thoracic or lumbar vertebrae. This vertebra is significantly flexed or extended and demonstrates a preference for sidebending and rotation in the same direction (e.g. rotated right and sidebent right or sidebent left, rotated left).|SNOMEDCT_US|N|
C5847614|Represents individuals who have developed two or more type 1 diabetes-associated islet autoantibodies but are normoglycemic.|SNOMEDCT_US|N|
C5847615|Includes individuals with two or more islet autoantibodies but whose disease has now progressed to the development of glucose intolerance, or dysglycemia, from loss of functional β-cell mass.|SNOMEDCT_US|N|
C5847622|Represents manifestations of the typical clinical symptoms and signs of Type 1 diabetes mellitus, which may include polyuria, polydipsia, weight loss, fatigue, diabetic ketoacidosis (DKA), and others.|SNOMEDCT_US|N|
CN001193|Pachygyria is a malformation of cortical development with abnormally wide gyri with sulci 1,5-3 cm apart and abnormally thick cortex measuring more than 5 mm (radiological definition). See also neuropathological definitions for 2-, 3-, and 4-layered lissencephaly.|HPO|N|
CN004722|Treacher Collins syndrome is a disorder of craniofacial development. The features include downslanting palpebral fissures, coloboma of the eyelid, micrognathia, microtia and other deformity of the ears, hypoplastic zygomatic arches, and macrostomia. Conductive hearing loss and cleft palate are often present (Dixon, 1996).
Genetic Heterogeneity of Treacher Collins Syndrome
Treacher Collins syndrome-2 (TCS2; 613717) is caused by mutation in the POLR1D gene (613715) on chromosome 13q12. Treacher Collins syndrome-3 (TCS3; 248390) is caused by mutation in the POLR1C gene (610060) on chromosome 6p21. Treacher Collins syndrome-4 (TCS4; 618939) is caused by mutation in the POLR1B gene (602000) on chromosome 2q14.|OMIM|N|
CN029142|A spectrum of septal defects involving the atrial septum; ventricular septum; and the atrioventricular valves (tricuspid valve; bicuspid valve). These defects are due to incomplete growth and fusion of the endocardial cushions which are important in the formation of two atrioventricular canals, site of future atrioventricular valves.|MONDO|N|
CN029274|Collagen VI-related dystrophies (COL6-RDs) represent a continuum of overlapping clinical phenotypes with Bethlem muscular dystrophy at the milder end, Ullrich congenital muscular dystrophy (UCMD) at the more severe end, and a phenotype in between UCMD and Bethlem muscular dystrophy, referred to as intermediate COL6-RD. Bethlem muscular dystrophy is characterized by a combination of proximal muscle weakness and joint contractures. Hypotonia and delayed motor milestones occur in early childhood; mild hypotonia and weakness may be present congenitally. By adulthood, there is evidence of proximal weakness and contractures of the elbows, Achilles tendons, and long finger flexors. The progression of weakness is slow, and more than two thirds of affected individuals older than age 50 years remain independently ambulatory indoors, while relying on supportive means for mobility outdoors. Respiratory involvement is not a consistent feature. UCMD is characterized by congenital weakness, hypotonia, proximal joint contractures, and striking hyperlaxity of distal joints. Decreased fetal movements are frequently reported. Some affected children acquire the ability to walk independently; however, progression of the disease results in a loss of ambulation by age ten to eleven years. Early and severe respiratory insufficiency occurs in all individuals, resulting in the need for nocturnal noninvasive ventilation (NIV) in the form of bilevel positive airway pressure (BiPAP) by age 11 years. Intermediate COL6-RD is characterized by independent ambulation past age 11 years and respiratory insufficiency that is later in onset than in UCMD and results in the need for NIV in the form of BiPAP by the late teens to early 20s. In contrast to individuals with Bethlem muscular dystrophy, those with intermediate COL6-RD typically do not achieve the ability to run, jump, or climb stairs without use of a railing.|GeneReviews|N|
CN029449|Cardiofaciocutaneous (CFC) syndrome is characterized by cardiac abnormalities (pulmonic stenosis and other valve dysplasias, septal defects, hypertrophic cardiomyopathy, rhythm disturbances), distinctive craniofacial appearance, and cutaneous abnormalities (including xerosis, hyperkeratosis, ichthyosis, keratosis pilaris, ulerythema ophryogenes, eczema, pigmented moles, hemangiomas, and palmoplantar hyperkeratosis). The hair is typically sparse, curly, fine or thick, woolly or brittle; eyelashes and eyebrows may be absent or sparse. Nails may be dystrophic or fast growing. Some form of neurologic and/or cognitive delay (ranging from mild to severe) is seen in all affected individuals. Neoplasia, mostly acute lymphoblastic leukemia, has been reported in some individuals.|GeneReviews|N|
CN029574|A rare, central nervous system malformation characterized by caudal displacement of the cerebellum, pons, medulla and fourth ventricle through the foramen magnum into the spinal canal, and is typically associated with myelomeningocele. Variable other central nervous system abnormalities might be present (partial or complete agenesis of the corpus callosum, a small fourth ventricle, obstructive hydrocephalus, falx and tentorium defects, and polygyria). Symptoms include hypotonia, apnea with cyanosis, dysphagia, opisthotonus, nystagmus, spasticity, ataxia, and occipital headache.|ORDO|N|
CN029689|MRD22 is characterized by impaired intellectual development with frequent cooccurrence of corpus callosum anomalies, hypotonia, microcephaly, growth problems, and variable facial dysmorphism (summary by van der Schoot et al., 2018).
Chromosome 1q43-q44 deletion syndrome is characterized by moderate to severely impaired intellectual development, limited or no speech, and variable but characteristic facial features, including round face, prominent forehead, flat nasal bridge, hypertelorism, epicanthal folds, and low-set ears. Other features may include hypotonia, poor growth, microcephaly, agenesis of the corpus callosum, and seizures. The phenotype is variable, and not all features are observed in all patients, which may be explained in some cases by incomplete penetrance or variable expressivity (summary by Ballif et al., 2012).|OMIM|N|
CN029917|Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings. Ectodermal dysplasia of the hair/nail type is a rare congenital condition characterized by hypotrichosis and nail dystrophy without nonectodermal or other ectodermal manifestations.|OMIM|N|
CN030166|A rare disorder characterised by hemolytic anemia, associated with metabolic acidosis and 5-oxoprolinuria in moderate forms, and with progressive neurological symptoms and recurrent bacterial infections in the most severe forms.|ORDO|N|
CN030661|Kabuki syndrome (KS) is characterized by typical facial features (long palpebral fissures with eversion of the lateral third of the lower eyelid; arched and broad eyebrows; short columella with depressed nasal tip; large, prominent, or cupped ears), minor skeletal anomalies, persistence of fetal fingertip pads, mild-to-moderate intellectual disability, and postnatal growth deficiency. Other findings may include: congenital heart defects, genitourinary anomalies, cleft lip and/or palate, gastrointestinal anomalies including anal atresia, ptosis and strabismus, and widely spaced teeth and hypodontia. Functional differences can include: increased susceptibility to infections and autoimmune disorders, seizures, endocrinologic abnormalities (including isolated premature thelarche in females), feeding problems, and hearing loss.|GeneReviews|N|
CN030853|A form of spondylodysplastic Ehlers-Danlos syndrome due to variants in <i>B4GALT7</i> and characterized by short stature, variable degrees of muscle hypotonia, joint hypermobility, especially of the hands, and bowing of limbs. Additional features include the typical craniofacial gestalt (mid-face hypoplasia, round, flat face, proptosis and narrow mouth), hyperextensible skin that is soft, thin, translucent and doughy, delayed motor and/or cognitive development, characteristic radiographic findings (such as radio-ulnar synostosis, radial head subluxation or dislocation, metaphyseal flaring and osteopenia) and ocular abnormalities.|ORDO|N|
CN031225|Punctate palmoplantar keratoderma type I, also called keratosis punctate palmoplantaris type Buschke-Fisher-Brauer, is a rare autosomal dominant hereditary skin disease characterized by multiple hyperkeratotic centrally indented papules that develop in early adolescence or later and are irregularly distributed on the palms and soles. In mechanically irritated areas, confluent plaques can be found. Interfamilial and intrafamilial severity shows broad variation. There have been reports of an association between PPKP and the development of early- and late-onset malignancies, including squamous cell carcinoma (summary by Giehl et al., 2012).
Another form of PPKP type I has been mapped to chromosome 8q24 (PPKP1B; 614936).
Other forms of punctate palmoplantar keratoderma include a porokeratotic type (PPKP2; 175860) and focal acrohyperkeratosis (PPKP3; 101850).
For a general phenotypic description and a discussion of genetic heterogeneity of palmoplantar keratoderma (PPK), see epidermolytic PPK (144200).|OMIM|N|
CN031472|Liddle syndrome is an autosomal dominant disorder characterized by early-onset salt-sensitive hypertension, hypokalemia, metabolic alkalosis, and suppression of plasma renin activity and aldosterone secretion (summary by Yang et al., 2014).
Genetic Heterogeneity of Liddle Syndrome
Liddle syndrome-2 (618114) is caused by mutation in the SCNN1G gene (600761), which encodes the ENaC gamma subunit. Liddle syndrome-3 (618126) is caused by mutation in the SCNN1A gene (600228), which encodes the ENaC alpha subunit.
Hanukoglu and Hanukoglu (2016) provided a detailed review of the ENaC gene family, including structure, function, tissue distribution, and associated inherited diseases.|OMIM|N|
CN031884|Spinocerebellar ataxia-27A (SCA27A) is an autosomal dominant neurologic disorder characterized by general cerebellar dysfunction manifest as gait disturbances, ataxia, tremor, dysarthria, and gaze-evoked nystagmus. The age at onset is highly variable: some patients present in infancy with nystagmus or delayed motor development, whereas others present as adults with tremor or gait difficulties. The disorder is slowly progressive, and ataxia may be very subtle or even absent. Cerebellar atrophy may or may not be observed on brain imaging. Individuals with SCA27A often show mild developmental delay with variably impaired intellectual development. Many patients report an exacerbation of symptoms with fever, emotional stress, or exercise, which can be reminiscent of episodic ataxia or be associated with outbursts, depression, or other behavioral and psychiatric disturbances. There is significant inter- and intrafamilial variability and patients show various combinations of neurologic features (summary by Tucker et al., 2013; Piarroux et al., 2020; Ceroni et al., 2023).
For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (164400).|OMIM|N|
CN032444|Individuals with 22q11.2 deletion syndrome (22q11.2DS) can present with a wide range of features that are highly variable, even within families. The major clinical manifestations of 22q11.2DS include congenital heart disease, particularly conotruncal malformations (ventricular septal defect, tetralogy of Fallot, interrupted aortic arch, and truncus arteriosus), palatal abnormalities (velopharyngeal incompetence, submucosal cleft palate, bifid uvula, and cleft palate), immune deficiency, characteristic facial features, and learning difficulties. Hearing loss can be sensorineural and/or conductive. Laryngotracheoesophageal, gastrointestinal, ophthalmologic, central nervous system, skeletal, and genitourinary anomalies also occur. Psychiatric illness and autoimmune disorders are more common in individuals with 22q11.2DS.|GeneReviews|N|
CN032975|Spondylocostal dysostosis (SCDO), defined radiographically as multiple segmentation defects of the vertebrae (M-SDV) in combination with abnormalities of the ribs, is characterized clinically by: a short trunk in proportion to height; short neck; non-progressive mild scoliosis in most affected individuals, and occasionally, more significant scoliosis. Respiratory function in neonates may be compromised by reduced size of the thorax. By age two years lung growth may improve sufficiently to support relatively normal growth and development; however, even then life-threatening complications can occur, especially pulmonary hypertension in children with severely restricted lung capacity from birth. Males with SCDO appear to be at increased risk for inguinal hernia.|GeneReviews|N|
CN033239|Spondyloepiphyseal dysplasia tarda (SEDT) is characterized by disproportionate short stature in adolescence or adulthood, associated with a short trunk and arms and barrel-shaped chest.|ORDO|N|
CN033288|PAX6-related aniridia occurs either as an isolated ocular abnormality or as part of the Wilms tumor-aniridia-genital anomalies-retardation (WAGR) syndrome. Aniridia is a pan ocular disorder affecting the cornea, iris, intraocular pressure (resulting in glaucoma), lens (cataract and lens subluxation), fovea (foveal hypoplasia), and optic nerve (optic nerve coloboma and hypoplasia). Individuals with aniridia characteristically show nystagmus and impaired visual acuity (usually 20/100 - 20/200); however, milder forms of aniridia with subtle iris architecture changes, good vision, and normal foveal structure do occur. Other ocular involvement may include strabismus and occasionally microphthalmia. Although the severity of aniridia can vary between and within families, little variability is usually observed in the two eyes of an affected individual. WAGR syndrome. The risk for Wilms tumor is 42.5%-77%; of those who develop Wilms tumor, 90% do so by age four years and 98% by age seven years. Genital anomalies in males can include cryptorchidism and hypospadias (sometimes resulting in ambiguous genitalia), urethral strictures, ureteric abnormalities, and gonadoblastoma. While females typically have normal external genitalia, they may have uterine abnormalities and streak ovaries. Intellectual disability (defined as IQ <74) is observed in 70%; behavioral abnormalities include attention-deficit/hyperactivity disorder (ADHD), autism spectrum disorder, anxiety, depression, and obsessive-compulsive disorder. Other individuals with WAGR syndrome can have normal intellect without behavioral problems.|GeneReviews|N|
CN033494|Absence of one or both mammary glands.|MONDO|N|
CN033499|Neurofibromatosis type 6 (NF6), also referred as café-au-lait spots syndrome, is a cutaneous disorder characterized by the presence of several café-au-lait (CAL) macules without any other manifestations of neurofibromatosis or any other systemic disorder.|ORDO|N|
CN033872|Urofacial syndrome (UFS) is characterized by prenatal or infantile onset of urinary bladder voiding dysfunction, abnormal facial movement with expression (resulting from abnormal co-contraction of the corners of the mouth and eyes), and often bowel dysfunction (constipation and/or encopresis). Bladder voiding dysfunction increases the risk for urinary incontinence, megacystis, vesicoureteric reflux, hydroureteronephrosis, urosepsis, and progressive renal impairment. In rare instances, an individual who has (a) a molecularly confirmed diagnosis and/or (b) an affected relative meeting clinical diagnostic criteria manifests only the characteristic facial features or only the urinary bladder voiding dysfunction (not both). Nocturnal lagophthalmos (incomplete closing of the eyes during sleep) appears to be a common and significant finding.|GeneReviews|N|
CN035299|A group of rare neural tube defect disorders characterized by improper closure of the spinal column during embryonal development, not associated with other major congenital malformations nor ventriculomegaly. The extent of the closure defect may vary, ranging from spina bifida occulta, in which the site of the lesion is not exposed (e.g. an isolated posterior vertebral arch defect), to spina bifida aperta, in which the lesion may be conformed of proturding spinal cord and meninges (myelomeningocele) or meninges exposure only (meningocele), with or without a proturding sac at the site of the lesion, to the most severe defect which includes total exposure of the spinal cord along its full length (rachischisis). Depending on the type, size and site of the defect, severe morbidity, typically inlcuding motor, sensory and sphincter dysfunction, and mortality may be associated. Spina bifida occulta may be asymptomatic.|ORDO|N|
CN036044|Triphalangeal thumb-polysyndactyly syndrome (TPT-PS) is a hand-foot malformation characterized by triphalangeal thumbs and pre- and postaxial polydactyly, isolated syndactyly or complex polysyndactyly.|MONDO|N|
CN036211|Hemolytic-uremic syndrome (HUS) is characterized by hemolytic anemia, thrombocytopenia, and renal failure caused by platelet thrombi in the microcirculation of the kidney and other organs. The onset of atypical HUS (aHUS) ranges from the neonatal period to adulthood. Genetic aHUS accounts for an estimated 60% of all aHUS. Individuals with genetic aHUS frequently experience relapse even after complete recovery following the presenting episode; 60% of genetic aHUS progresses to end-stage renal disease (ESRD).|GeneReviews|N|
CN036360|Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete interferon gamma receptor 1 (IFN-gammaR1) deficiency is a genetic variant of MSMD (see this term) characterized by a complete deficiency in IFN-gammaR1, leading to impaired IFN-gamma immunity and, consequently, to severe and often fatal infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria (EM).|ORDO|N|
CN036786|A benign or malignant extra-adrenal parasympathetic paraganglioma arising from paraganglia in the vagus nerve. Patients may present with a slow growing, painless mass in the neck, hoarseness, vocal cord paralysis, and dysphagia.|MONDO|N|
CN036924|A specific change in the MTTK gene causes a condition characterized by weakened heart muscle (cardiomyopathy) and hearing loss. Affected individuals may also have myopathy and ataxia. This mutation replaces the DNA building block (nucleotide) guanine with the nucleotide adenine at position 8363 (written as G8363A) within the gene. It is unclear how this alteration in the MTTK gene results in cardiomyopathy, hearing loss, and other symptoms.|MONDO|N|
CN042656|A rare, genetic, congenital myopathy disorder characterized by variable degrees of muscular weakness, frequently associated with severe nemaline myopathy-like disease (including neonatal hypotonia, lack of spontaneous movements, feeding and swallowing difficulties, frequent respiratory infections, respiratory insufficiency, early death), and histopathologic findings of large, densely packed, subsarcolemmal accumulations of thin, actin-immunopositive filaments (with or without intranuclear nemaline rods) on muscle biopsy.|ORDO|N|
CN043158|CASK disorders include a spectrum of phenotypes in both females and males. Two main types of clinical presentation are seen: Microcephaly with pontine and cerebellar hypoplasia (MICPCH), generally associated with pathogenic loss-of-function variants in CASK. X-linked intellectual disability (XLID) with or without nystagmus, generally associated with hypomorphic CASK pathogenic variants. MICPCH is typically seen in females with moderate-to-severe intellectual disability, progressive microcephaly with or without ophthalmologic anomalies, and sensorineural hearing loss. Most are able to sit independently; 20%-25% attain the ability to walk; language is nearly absent in most. Neurologic features may include axial hypotonia, hypertonia/spasticity of the extremities, and dystonia or other movement disorders. Nearly 40% have seizures by age ten years. Behaviors may include sleep disturbances, hand stereotypies, and self biting. MICPCH in males may occur with or without severe epileptic encephalopathy in addition to severe-to-profound developmental delay. When seizures are present they occur early and may be intractable. In individuals and families with milder (i.e., hypomorphic) pathogenic variants, the clinical phenotype is usually that of XLID with or without nystagmus and additional clinical features. Males have mild-to-severe intellectual disability, with or without nystagmus and other ocular features. Females typically have normal intelligence with some displaying mild-to-severe intellectual disability with or without ocular features.|GeneReviews|N|
CN043453|Hemophilia is a bleeding disorder that slows the blood clotting process. People with this condition experience prolonged bleeding or oozing following an injury, surgery, or having a tooth pulled. In severe cases of hemophilia, continuous bleeding occurs after minor trauma or even when there is no obvious injury (sometimes called spontaneous bleeding). Serious complications can result from bleeding into the joints, muscles, brain, or other internal organs. Milder forms of hemophilia do not necessarily involve spontaneous bleeding, and the condition may not become apparent until abnormal bleeding occurs following surgery or a serious injury.\n\nThe major types of this condition are hemophilia A (also known as classic hemophilia or factor VIII deficiency) and hemophilia B (also known as Christmas disease or factor IX deficiency). Although the two types have very similar signs and symptoms, they are caused by variants (also known as mutations) in different genes.  People with an unusual form of hemophilia B, known as hemophilia B Leyden, experience episodes of excessive bleeding in childhood but have few bleeding problems after puberty.|MedlinePlus Genetics|N|
CN043561|People with Swyer syndrome have female external genitalia and some female internal reproductive structures. These individuals usually have a uterus and fallopian tubes, but their gonads (ovaries or testes) are not functional. Instead, the gonads are small and underdeveloped and contain little gonadal tissue. These structures are called  streak gonads. The streak gonadal tissue is at risk of developing cancer that is often hard-to-detect, so it is usually removed surgically. Swyer syndrome is also called 46,XY complete gonadal dysgenesis; the medical term “dysgenesis” means "abnormal development."\n\nBecause they appear female on the outside, babies with Swyer syndrome are usually raised as girls and develop a female gender identity, which is a person's sense of their gender (girl, boy, a combination, or neither). Swyer syndrome may be identified before birth, at birth, or later when a child does not go through puberty as usual. Because they do not have functional ovaries that produce hormones, affected individuals often begin hormone replacement therapy during early adolescence to start puberty, causing the breasts and uterus to grow, and eventually leading to menstruation. Hormone replacement therapy is also important for bone health and helps reduce the risk of low bone density (osteopenia) and fragile bones (osteoporosis). Women with Swyer syndrome do not produce eggs (ova), but if they have a uterus, they may be able to become pregnant with a donated egg or embryo.\n\nChromosomes  contain the genetic instructions for how the body develops and functions. People usually have 46 chromosomes in each cell. Two of the 46 chromosomes, known as X and Y, are called sex chromosomes because they help determine whether a person will develop male or female reproductive structures. Girls and women typically have two X chromosomes (46,XX karyotype), while boys and men typically have one X chromosome and one Y chromosome (46,XY karyotype). In Swyer syndrome, individuals have one X chromosome and one Y chromosome in each cell, which is the pattern typically found in boys and men; however, they have female reproductive structures.\n\nSwyer syndrome is a condition that affects sex development. Sex development usually follows a particular path based on an individual's chromosomes; however, in Swyer syndrome, sex development is not typical for the affected individual's chromosomal pattern.|MedlinePlus Genetics|N|
CN043574|Branchiootorenal spectrum disorder (BORSD) is characterized by malformations of the outer, middle, and inner ear associated with conductive, sensorineural, or mixed hearing impairment, branchial fistulae and cysts, and renal malformations ranging from mild renal hypoplasia to bilateral renal agenesis. Some individuals progress to end-stage renal disease (ESRD) later in life. Extreme variability can be observed in the presence, severity, and type of branchial arch, otologic, audiologic, and renal abnormality from right side to left side in an affected individual and also among individuals in the same family.|GeneReviews|N|
CN043584|X-linked congenital stationary night blindness (CSNB) is characterized by non-progressive retinal findings of reduced visual acuity ranging from 20/30 to 20/200; defective dark adaptation; refractive error, most typically myopia ranging from low (-0.25 diopters [D] to -4.75 D) to high (=-10.00 D) but occasionally hyperopia; nystagmus; strabismus; normal color vision; and normal fundus examination. Characteristic ERG findings can help distinguish between complete X-linked CSNB and incomplete X-linked CSNB.|GeneReviews|N|
CN043589|Nonsyndromic hearing loss and deafness, DFNA3 is characterized by pre- or postlingual mild-to-profound progressive high-frequency sensorineural hearing impairment. Affected individuals have no other associated medical findings.|GeneReviews|N|
CN043592|Disorders of intracellular cobalamin metabolism have a variable phenotype and age of onset that are influenced by the severity and location within the pathway of the defect. The prototype and best understood phenotype is cblC; it is also the most common of these disorders. The age of initial presentation of cblC spans a wide range: In utero with fetal presentation of nonimmune hydrops, cardiomyopathy, and intrauterine growth restriction. Newborns, who can have microcephaly, poor feeding, and encephalopathy. Infants, who can have poor feeding and slow growth, neurologic abnormality, and, rarely, hemolytic uremic syndrome (HUS). Toddlers, who can have poor growth, progressive microcephaly, cytopenias (including megaloblastic anemia), global developmental delay, encephalopathy, and neurologic signs such as hypotonia and seizures. Adolescents and adults, who can have neuropsychiatric symptoms, progressive cognitive decline, thromboembolic complications, and/or subacute combined degeneration of the spinal cord.|GeneReviews|N|
CN043596|Early-onset autosomal dominant Alzheimer disease (EOAD) is a progressive dementia with reduction of cognitive functions. EOAD presents the same phenotype as sporadic Alzheimer disease (AD) but has an early age of onset, usually before 60 years old.|ORDO|N|
CN043625|Leigh syndrome is a severe neurological disorder that usually becomes apparent in the first year of life. This condition is characterized by progressive loss of mental and movement abilities (psychomotor regression) and typically results in death within two to three years, usually due to respiratory failure. A small number of individuals do not develop symptoms until adulthood or have symptoms that worsen more slowly.\n\nThe first signs of Leigh syndrome seen in infancy are usually vomiting, diarrhea, and difficulty swallowing (dysphagia), which disrupts eating. These problems often result in an inability to grow and gain weight at the expected rate (failure to thrive). Severe muscle and movement problems are common in Leigh syndrome. Affected individuals may develop weak muscle tone (hypotonia), involuntary muscle contractions (dystonia), and problems with movement and balance (ataxia). Loss of sensation and weakness in the limbs (peripheral neuropathy), common in people with Leigh syndrome, may also make movement difficult.\n\nThe signs and symptoms of Leigh syndrome are caused in part by patches of damaged tissue (lesions) that develop in the brains of people with this condition. A medical procedure called magnetic resonance imaging (MRI) reveals characteristic lesions in certain regions of the brain. These regions include the basal ganglia, which help control movement; the cerebellum, which controls the ability to balance and coordinates movement; and the brainstem, which connects the brain to the spinal cord and controls functions such as swallowing and breathing. The brain lesions are often accompanied by loss of the myelin coating around nerves (demyelination), which reduces the ability of the nerves to activate muscles used for movement or relay sensory information from the rest of the body back to the brain.\n\nSeveral other features may occur in people with Leigh syndrome. Many individuals with this condition develop weakness or paralysis of the muscles that move the eyes (ophthalmoparesis); rapid, involuntary eye movements (nystagmus); or degeneration of the nerves that carry information from the eyes to the brain (optic atrophy). Severe breathing problems are common, and these problems can worsen until they cause acute respiratory failure. Some affected individuals develop hypertrophic cardiomyopathy, which is a thickening of the heart muscle that forces the heart to work harder to pump blood. In addition, a substance called lactate can build up in the body, and excessive amounts are often found in the blood, urine, or the fluid that surrounds and protects the brain and spinal cord (cerebrospinal fluid) of people with Leigh syndrome.|MedlinePlus Genetics|N|
CN043632|Mitochondrial DNA (mtDNA) deletion syndromes predominantly comprise three overlapping phenotypes that are usually simplex (i.e., a single occurrence in a family), but rarely may be observed in different members of the same family or may evolve from one clinical syndrome to another in a given individual over time. The three classic phenotypes caused by mtDNA deletions are Kearns-Sayre syndrome (KSS), Pearson syndrome, and progressive external ophthalmoplegia (PEO). KSS is a progressive multisystem disorder defined by onset before age 20 years, pigmentary retinopathy, and PEO; additional features include cerebellar ataxia, impaired intellect (intellectual disability, dementia, or both), sensorineural hearing loss, ptosis, oropharyngeal and esophageal dysfunction, exercise intolerance, muscle weakness, cardiac conduction block, and endocrinopathy. Pearson syndrome is characterized by sideroblastic anemia and exocrine pancreas dysfunction and may be fatal in infancy without appropriate hematologic management. PEO is characterized by ptosis, impaired eye movements due to paralysis of the extraocular muscles (ophthalmoplegia), oropharyngeal weakness, and variably severe proximal limb weakness with exercise intolerance. Rarely, a mtDNA deletion can manifest as Leigh syndrome.|GeneReviews|N|
CN043634|Mitochondrial DNA (mtDNA)-associated Leigh syndrome and NARP (neurogenic muscle weakness, ataxia, and retinitis pigmentosa) are part of a continuum of progressive neurodegenerative disorders caused by abnormalities of mitochondrial energy generation. Leigh syndrome (or subacute necrotizing encephalomyelopathy) is characterized by onset of symptoms typically between ages three and 12 months, often following a viral infection. Decompensation (often with elevated lactate levels in blood and/or CSF) during an intercurrent illness is typically associated with psychomotor retardation or regression. Neurologic features include hypotonia, spasticity, movement disorders (including chorea), cerebellar ataxia, and peripheral neuropathy. Extraneurologic manifestations may include hypertrophic cardiomyopathy. About 50% of affected individuals die by age three years, most often as a result of respiratory or cardiac failure. NARP is characterized by proximal neurogenic muscle weakness with sensory neuropathy, ataxia, and pigmentary retinopathy. Onset of symptoms, particularly ataxia and learning difficulties, is often in early childhood. Individuals with NARP can be relatively stable for many years, but may suffer episodic deterioration, often in association with viral illnesses.|GeneReviews|N|
CN043640|Autosomal dominant multiple epiphyseal dysplasia (MED) presents in early childhood, usually with pain in the hips and/or knees after exercise. Affected children complain of fatigue with long-distance walking. Waddling gait may be present. Adult height is either in the lower range of normal or mildly shortened. The limbs are relatively short in comparison to the trunk. Pain and joint deformity progress, resulting in early-onset osteoarthritis, particularly of the large weight-bearing joints.|GeneReviews|N|
CN043651|Nonsyndromic hearing loss is a partial or total loss of hearing that is not associated with other signs and symptoms. In contrast, syndromic hearing loss occurs with signs and symptoms affecting other parts of the body.\n\nNonsyndromic hearing loss can be classified in several different ways. One common way is by the condition's pattern of inheritance: autosomal dominant (DFNA), autosomal recessive (DFNB), X-linked (DFNX), or mitochondrial (which does not have a special designation). Each of these types of hearing loss includes multiple subtypes. DFNA, DFNB, and DFNX subtypes are numbered in the order in which they were first described. For example, DFNA1 was the first type of autosomal dominant nonsyndromic hearing loss to be identified.\n\nThe characteristics of nonsyndromic hearing loss vary among the different types. Hearing loss can affect one ear (unilateral) or both ears (bilateral). Degrees of hearing loss range from mild (difficulty understanding soft speech) to profound (inability to hear even very loud noises). The term "deafness" is often used to describe severe-to-profound hearing loss. Hearing loss can be stable, or it may be progressive, becoming more severe as a person gets older. Particular types of nonsyndromic hearing loss show distinctive patterns of hearing loss. For example, the loss may be more pronounced at high, middle, or low tones.\n\nMost forms of nonsyndromic hearing loss are described as sensorineural, which means they are associated with a permanent loss of hearing caused by damage to structures in the inner ear. The inner ear processes sound and sends the information to the brain in the form of electrical nerve impulses. Less commonly, nonsyndromic hearing loss is described as conductive, meaning it results from changes in the middle ear. The middle ear contains three tiny bones that help transfer sound from the eardrum to the inner ear. Some forms of nonsyndromic hearing loss, particularly a type called DFNX2, involve changes in both the inner ear and the middle ear. This combination is called mixed hearing loss.\n\nDepending on the type, nonsyndromic hearing loss can become apparent at any time from infancy to old age. Hearing loss that is present before a child learns to speak is classified as prelingual or congenital. Hearing loss that occurs after the development of speech is classified as postlingual.|MedlinePlus Genetics|N|
CN043653|The X-linked otopalatodigital (X-OPD) spectrum disorders, characterized primarily by skeletal dysplasia, include the following: Otopalatodigital syndrome type 1 (OPD1). Otopalatodigital syndrome type 2 (OPD2). Frontometaphyseal dysplasia type 1 (FMD1). Melnick-Needles syndrome (MNS). Terminal osseous dysplasia with pigmentary skin defects (TODPD). In OPD1, most manifestations are present at birth; females can present with severity similar to affected males, although some have only mild manifestations. In OPD2, females are less severely affected than related affected males. Most males with OPD2 die during the first year of life, usually from thoracic hypoplasia resulting in pulmonary insufficiency. Males who live beyond the first year of life are usually developmentally delayed and require respiratory support and assistance with feeding. In FMD1, females are less severely affected than related affected males. Males do not experience a progressive skeletal dysplasia but may have joint contractures and hand and foot malformations. Progressive scoliosis is observed in both affected males and females. In MNS, wide phenotypic variability is observed; some individuals are diagnosed in adulthood, while others require respiratory support and have reduced longevity. MNS in males results in perinatal lethality in all recorded cases. TODPD, seen only in females, is characterized by a skeletal dysplasia that is most prominent in the digits, pigmentary defects of the skin, and recurrent digital fibromata.|GeneReviews|N|
CN043670|Spondylocostal dysostosis (SCDO), defined radiographically as multiple segmentation defects of the vertebrae (M-SDV) in combination with abnormalities of the ribs, is characterized clinically by: a short trunk in proportion to height; short neck; non-progressive mild scoliosis in most affected individuals, and occasionally, more significant scoliosis. Respiratory function in neonates may be compromised by reduced size of the thorax. By age two years lung growth may improve sufficiently to support relatively normal growth and development; however, even then life-threatening complications can occur, especially pulmonary hypertension in children with severely restricted lung capacity from birth. Males with SCDO appear to be at increased risk for inguinal hernia.|GeneReviews|N|
CN068444|A adenoma that involves the periampullary region of duodenum.|MONDO|N|
CN069167|Phenytoin, a widely used antiepileptic drug, has a narrow therapeutic index and large inter-patient variability, partly due to CYP2C9 genetic variation. Patients with the CYP2C9 poor metabolizer phenotype may require reduced doses of phenytoin.  Additionally, the HLA-B*15:02 variant is associated with an increased risk of phenytoin-induced cutaneous adverse reactions of Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN).  Patients who carry at least one copy of the HLA-B*15:02 allele (considered HLA-B*15:02-positive) have a significantly increased risk for SJS/TEN compared to non-carriers, and it is recommended that they receive an alternate drug.   It is important to note that it is possible for a patient without HLA-B*15:02 to develop SJS/TEN.  Therapeutic guidelines for phenytoin based on CYP2C9 and HLA-B genotypes have been published in Clinical Pharmacology and Therapeutics by the Clinical Pharmacogenetics Implementation Consortium (CPIC) and are available on the PharmGKB website.|PharmGKB|N|
CN069802|A macular degeneration characterized by abnormal accumulation of lipofuscin in the retinal pigment epithelium in a distinct pattern, patterns include; reticular ('fishnet-like'), macroreticular ('spider-shaped'), and butterfly-shaped.|MONDO|N|
CN069886|An inherited susceptibility or predisposition to developing IgA glomerulonephritis.|MONDO|N|
CN072071|A carcinoma that involves the laryngeal vocal fold.|MONDO|N|
CN072330|The PTEN hamartoma tumor syndrome (PHTS) includes Cowden syndrome (CS), Bannayan-Riley-Ruvalcaba syndrome (BRRS), PTEN-related Proteus syndrome (PS), and PTEN-related Proteus-like syndrome. CS is a multiple hamartoma syndrome with a high risk for benign and malignant tumors of the thyroid, breast, kidney, and endometrium. Affected individuals usually have macrocephaly, trichilemmomas, and papillomatous papules, and present by the late 20s. The lifetime risk of developing breast cancer is 85%, with an average age of diagnosis between 38 and 46 years. The lifetime risk for thyroid cancer (usually follicular, rarely papillary, but never medullary thyroid cancer) is approximately 35%. The lifetime risk for renal cell cancer (predominantly of papillary histology) is 34%. The risk for endometrial cancer may approach 28%. BRRS is a congenital disorder characterized by macrocephaly, intestinal hamartomatous polyposis, lipomas, and pigmented macules of the glans penis. PS is a complex, highly variable disorder involving congenital malformations and hamartomatous overgrowth of multiple tissues, as well as connective tissue nevi, epidermal nevi, and hyperostoses. Proteus-like syndrome is undefined but refers to individuals with significant clinical features of PS who do not meet the diagnostic criteria for PS.|GeneReviews|N|
CN072730|A type of ascites characterized by copious amounts of mucinous ascites and mucinous peritoneal implants, leading to progressive obliteration of the peritoneal cavity and intestinal obstruction.|HPO|N|
CN074165|Carriers of the balanced constitutional translocation t(8;22)(q24.13;q11.2) are phenotypically normal but are at risk of having progeny with supernumerary der(22)t(8;22) syndrome as a result of malsegregation of the der(22). Although the supernumerary der(22)t(8;22) phenotype is variable between individuals, it tends to include ear and extremity abnormalities in addition to mild mental retardation (summary by Sheridan et al., 2010).|OMIM|N|
CN074294|The Heidelberg histologic classification of renal cell tumors subdivides renal cell tumors into benign and malignant parenchymal neoplasms and, where possible, limits each subcategory to the most common documented genetic abnormalities (Kovacs et al., 1997). Malignant tumors are subclassified into common or conventional renal cell carcinoma (clear cell); papillary renal cell carcinoma; chromophobe renal cell carcinoma; collecting duct carcinoma, with medullary carcinoma of the kidney; and unclassified renal cell carcinoma. The common or conventional type accounts for about 75% of renal cell neoplasms and is characterized genetically by a highly specific deletion of chromosome 3p. Papillary renal cell carcinoma (see 605074) accounts for about 10% of renal cell tumors. Chromophobe renal cell carcinoma accounts for approximately 5% of renal cell neoplasms. Genetically, chromophobe RCC is characterized by a combination of loss of heterozygosity of chromosomes 1, 2, 6, 10, 13, 17, and 21 and hypodiploid DNA content. Collecting duct carcinoma accounts for about 1% of renal cell carcinoma.
Renal cell carcinoma occurs nearly twice as often in men as in women; incidence in the United States is equivalent among whites and blacks. Cigarette smoking doubles the likelihood of renal cell carcinoma and contributes to as many as one-third of cases. Obesity is also a risk factor, particularly in women. Other risk factors include hypertension, unopposed estrogen therapy, and occupational exposure to petroleum products, heavy metals, or asbestos (summary by Motzer et al., 1996).
Genetic Heterogeneity of Renal Cell Carcinoma
Germline mutation resulting in nonpapillary renal cell carcinoma of the clear cell and chromophobe type occurs in the HNF1A gene (142410) and the HNF1B gene (189907).
Somatic mutations in renal cell carcinomas occur in the VHL gene (608537), the TRC8 gene (603046), the OGG1 gene (601982), the ARMET gene (601916), the FLCN gene (607273), and the BAP1 gene (603089).
See also RCCX1 (300854) for a discussion of renal cell carcinoma associated with translocations of chromosome Xp11.2 involving the TFE3 gene (314310).
For a discussion of papillary renal cell carcinoma, see RCCP1 (605074).
Occurrence of Renal Cell Carcinoma in Other Disorders
Von Hippel-Lindau syndrome (193300) is a familial multicancer syndrome in which there is a susceptibility to a variety of neoplasms, including renal cell carcinoma of clear cell histology and renal cysts. A syndrome of predisposition to uterine leiomyomas and papillary renal cell carcinoma has been reported (150800). Medullary carcinoma of the kidney is believed to arise from the collecting ducts of the renal medulla and is associated with sickle cell trait (603903) (Kovacs et al., 1997). Renal cell carcinoma occurs in patients with the Birt-Hogg-Dube syndrome (135150).
Bertolotto et al. (2011) identified a missense mutation in the MITF (156845) gene that increases the risk of renal cell carcinoma with or without malignant melanoma (CMM8; 614456).|OMIM|N|
CN076135|In Alport syndrome (AS) a spectrum of phenotypes ranging from progressive renal disease with extrarenal abnormalities to isolated hematuria with a non-progressive or very slowly progressive course is observed. Approximately two thirds of AS is X-linked (XLAS); approximately 15% is autosomal recessive (ARAS), and approximately 20% is autosomal dominant (ADAS). In the absence of treatment, renal disease progresses from microscopic hematuria (microhematuria) to proteinuria, progressive renal insufficiency, and end-stage renal disease (ESRD) in all males with XLAS, and in all males and females with ARAS. Progressive sensorineural hearing loss (SNHL) is usually present by late childhood or early adolescence. Ocular findings include anterior lenticonus (which is virtually pathognomonic), maculopathy (whitish or yellowish flecks or granulations in the perimacular region), corneal endothelial vesicles (posterior polymorphous dystrophy), and recurrent corneal erosion. In individuals with ADAS, ESRD is frequently delayed until later adulthood, SNHL is relatively late in onset, and ocular involvement is rare.|GeneReviews|N|
CN077603|Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the CALR3 gene.|MONDO|N|
CN077766|Hemochromatosis type 2 (juvenile) is the early-onset and most severe form of rare hereditary hemochromatosis (HH; see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin.|ORDO|N|
CN077955|Aripiprazole is an atypical antipsychotic used to manage schizophrenia, bipolar disorder, major depressive disorder, irritability associated with autistic disorder, and in the treatment of Tourette syndrome. 
The metabolism and elimination of aripiprazole is mainly mediated through 2 enzymes, CYP2D6 and CYP3A4. Approximately 8% of Caucasians, 3–8% of Black/African Americans and up to 2% of Asians cannot metabolize CYP2D6 substrates and are classified as “poor metabolizers.” 
The FDA-approved drug label for aripiprazole states that in CYP2D6 poor metabolizers, half of the usual dose should be administered. In CYP2D6 poor metabolizers who are taking concomitant strong CYP3A4 inhibitors (for example, itraconazole, clarithromycin), a quarter of the usual dose should be used. The dosage reduction is the same regardless of the administration route (oral or long-acting injectable).
The Dutch Pharmacogenetics Working group (DPWG) also recommends a reduced dosage for CYP2D6 poor metabolizers, “no more than 10 mg/day or 300 mg/month." No action is recommended for intermediate or ultrarapid metabolizers. While both of these metabolic variations alter the plasma concentrations of aripiprazole, there is no evidence that this increases the risk of reduced effectiveness or risk of side effects.
In contrast to the recommendations by the FDA and DPWG, some recent studies have suggested CYP2D6 intermediate metabolizers may also require a dose decrease, but this was only based on aripiprazole clearance.|Medical Genetics Summaries|N|
CN077956|Atomoxetine is a selective noradrenaline reuptake inhibitor and approved as non-stimulant medication for the treatment of attention-deficit/hyperactivity disorder (ADHD). Atomoxetine is metabolized by CYP2D6 and genetic variation effects atomoxetine pharmacokinetics. Atomoxetine exposure is higher in subjects with two no function alleles, CYP2D6 poor metabolizers, compared to non-poor metabolizers. The likelihood of favorable treatment response and side effects are both reported to be higher in this group compared to non-poor metabolizers. To this point, there is no evidence correlating efficacy and/or drug discontinuation with other CYP2D6 metabolizer phenotypes. However, studies suggest that plasma drug concentration is related to clinical outcome. Therapeutic recommendations for prescribing atomoxetine based on an individual’s CYP2D6 genotype have been published in Clinical Pharmacology and Therapeutics by the Clinical Pharmacogenetics Implementation Consortium (CPIC). The therapeutic recommendations include a peak plasma concentration exposure check post drug administration for each CYP2D6 phenotype group if no clinical response after 2 weeks of therapy to rule out inadequate systemic exposure and to help clinicians guide dose selection and titration. The timing of the peak concentration and dose titration is dependent on the CYP2D6 phenotype (see guidelines). The guidelines are available on the CPIC and PharmGKB website.|PharmGKB|N|
CN077957|Voriconazole is a triazole antifungal agent active against a variety of fungi and molds. While it is generally well-tolerated and effective, it has a narrow therapeutic window making it difficult to dose correctly. CYP2C19 is the primary enzyme responsible for the metabolism of the drug, and variations within the CYP2C19 gene may affect voriconazole exposure. CYP2C19 ultrarapid and rapid metabolizers may have increased metabolism of the drug, resulting in a reduced likelihood of attaining therapeutic voriconazole concentrations, while poor metabolizers may have decreased metabolism of the drug, resulting in an increased likelihood for adverse effects. Therapeutic guidelines for voriconazole based on CYP2C19 genotype have been published in Clinical Pharmacology and Therapeutics by the Clinical Pharmacogenetics Implementation Consortium (CPIC) and are available on the PharmGKB website.|PharmGKB|N|
CN077959|The thiopurines include azathioprine (a pro-drug for mercaptopurine), mercaptopurine and thioguanine.  They are used to treat a variety of immunological disorders such as rheumatoid arthritis, non- Hodgkin lymphoma and ulcerative colitis. Both mercaptopurine and thioguanine can exert cytotoxic effects through the formation of thioguanine nucleotides (TGNs), active metabolites that incorporate into DNA. Mercaptopurine and thioguanine are directly inactivated by thiopurine S-methyltransferase (TPMT). Individuals with two nonfunctional TPMT alleles are at 100% risk of potentially fatal myelosuppression, due to an increased buildup of toxic TGNs. Alternative agents or a drastically reduced dose are recommended for patients with this genotype. Patients heterozygous for a nonfunctional TPMT allele are at increased risk of myelosuppression, and reduced dosing is recommended for these individuals. These dosing guidelines have been published in Clinical Pharmacology and Therapeutics by the Clinical Pharmacogenetics Implementation Consortium (CPIC) and are available on the PharmGKB website.|PharmGKB|N|
CN077960|PEG-interferon alpha (PEG-IFN 2a and 2b, or PEG-IFN alpha), in combination with ribavirin, is used to treat Hepatitis C Virus (HCV) infection.  IFNL3 (also known as IL28B) is a member of the type 3 IFN-alpha family, which are induced by viruses and inhibit HCV replication in vitro.  Genetic variants in IFNL3 are associated with increased response (higher sustained virological response rate) to PEG-interferon alpha/ribavirin combination therapy and clearance of HCV.   In 2011, the protease inhibitors boceprevir and telaprevir were approved to treat HCV genotype 1 infection in many countries, including the United States and those in the European Union, and are now included in HCV combination therapy.  IFNL3 genotype predicts response to this combination therapy and also predicts eligibility for shorter duration of therapy.  Guidelines regarding the clinical use of PEG-interferon alpha containing regimens based on IFNL3 genotype have been published in Clinical Pharmacology and Therapeutics by the Clinical Pharmacogenetics Implementation Consortium (CPIC) and are available on the PharmGKB website.|PharmGKB|N|
CN077961|Statins are among the most commonly prescribed drugs in the world to treat hypercholesterolemia and prevent cardiovascular diseases. They effectively lower cholesterol levels by inhibiting the HMG-CoA reductase to reduce cholesterol synthesis. Though well tolerated in general, the most common statin side effect is statin-associated musculoskeletal symptoms (SAMS) which range from myalgia, myopathy to fatal rhabdomyolysis, especially when statins are administered at higher doses and with certain other medications. Genetic variations in genes encoding the statin transporters, SLCO1B1 and ABCG2, and metabolizing enzyme, CYP2C9, have been shown to affect systemic plasma concentrations of statins and are associated with increased risk for SAMS. Guidelines regarding the use of pharmacogenomic tests in dosing for statins have been published in Clinical Pharmacology and Therapeutics by the Clinical Pharmacogenetics Implementation Consortium (CPIC) and are available on the CPIC and PharmGKB websites. The CPIC guideline provides specific therapeutic recommendations for simvastatin, atorvastatin, lovastatin, pravastatin and pitavastatin based on SLCO1B1 phenotype; rosuvastatin based on SLCO1B1 and ABCG2 phenotypes; and fluvastatin based on SLCO1B1 and CYP2C9 phenotypes. It serves as a guide for selecting the most appropriate statin and the optimal dose if pharmacogenetic test results are available.|PharmGKB|N|
CN077963|Capecitabine is a chemotherapeutic agent and a member of the fluoropyrimidine group of substances. It is a prodrug of 5-fluorouracil and mainly used to treat solid tumors, such as colorectal, breast and aerodigestive cancers. Dihydropyrimidine dehydrogenase (DPD, encoded by the DPYD gene) is the rate-limiting enzyme for fluoropyrimidine metabolism and is therefore responsible for the detoxification of these types of drugs. Patients who are homozygous for variants in DPYD that lead to a non-functional protein, such as *2A or *13, have a high risk of severe or fatal drug toxicities and may benefit from receiving an alternative chemotherapeutic drug. Patients heterozygous for these variants also have an increased risk for drug toxicities, and reduced dosing is recommended for these individuals. Guidelines regarding the use of pharmacogenomic tests in dosing for capecitabine have been published in Clinical Pharmacology and Therapeutics by the Clinical Pharmacogenetics Implementation Consortium (CPIC) and are available on the PharmGKB website.|PharmGKB|N|
CN077964|Carbamazepine is an aromatic anticonvulsant used to treat epilepsy and other seizure disorders, as well as bipolar disorder and trigeminal neuralgia.  Carbamazepine can cause a variety of cutaneous adverse reactions, ranging from mild maculopapular eruptions to Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN).  The genetic variants HLA-B*15:02 and HLA-A*31:01 are associated with the risk of SJS/TEN.  Patients who have at least one copy of the HLA-B*15:02 or HLA-A*31:01 allele (considered HLA-B*15:02 positive or HLA-A*31:01-positive, respectively) have a significantly increased risk for SJS/TEN compared to non-carriers, and it is recommended that they receive an alternate drug.   It is important to note that it is possible for a patient without HLA-B*15:02 to develop SJS/TEN.  Guidelines regarding the use of pharmacogenomic tests in dosing for carbamazepine have been published in Clinical Pharmacology and Therapeutics by the Clinical Pharmacogenetics Implementation Consortium (CPIC) and are available on the CPIC and PharmGKB websites.|PharmGKB|N|
CN077965|Carvedilol (brand name Coreg) is used to treat heart failure and high blood pressure (hypertension). It is also used in patients who developed left ventricular dysfunction after having a heart attack (myocardial infarction, MI). In patients with cardiovascular disease, carvedilol is associated with improvements in quality of life, hospitalization rates, and survival. Carvedilol is a non-selective beta blocker (beta 1 and beta 2) and an alpha 1 blocker. It reduces the energy demands on the heart by blocking cardiac beta receptors, which decreases the heart rate and the force of heart contractions. Carvedilol lowers blood pressure by blocking alpha receptors on blood vessels, which relaxes and dilates blood vessels. CYP2D6 is one of the primary enzymes involved in activating and metabolizing carvedilol. Approximately 8% of Caucasians and 2% of most other populations have absent CYP2D6 activity and are predicted to be “CYP2D6 poor metabolizers.” The FDA-approved drug label for carvedilol states that plasma concentrations of carvedilol may be higher in CYP2D6 poor metabolizers compared to normal metabolizers, but does not discuss altering carvedilol dosing based on a patient’s CYP2D6 genotype. However, the label does state the dose of carvedilol should be individualized, and the dose should be monitored as it is gradually increased (up-titrated), based on tolerability and clinical response. The Dutch Pharmacogenetics Working Group (DPWG) of the Royal Dutch Association for the Advancement of Pharmacy (KNMP) recommend that no action is needed for carvedilol and CYP2D6 genotype. For CYP2D6 poor metabolizers, DPWG states that the plasma concentration of carvedilol can be elevated, but this does not result in an increase in side effects.|Medical Genetics Summaries|N|
CN077966|Nonsteroidal Anti-inflammatory Drugs (NSAIDs) are among the most commonly prescribed drugs to treat pain, fever and inflammation. The main therapeutic effect of NSAIDs occurs via blocking the production of prostaglandin that cause inflammation. Hepatic metabolism by cytochrome P450 isoforms CYP2C9, 1A2, and 3A4, and renal excretion are the principal routes of clearance of the majority of NSAIDs.  Genetic variants in CYP2C9 (e.g., CYP2C9*2 and *3), along with other genetics and clinical factors, have been shown to affect systemic plasma concentrations of NSAIDs and potentially safety. Patients with CYP2C9 decreased or no function alleles may have elevated exposure and at increased risk for adverse effects. Guidelines regarding the use of pharmacogenomic tests in dosing for NSAIDs have been published in Clinical Pharmacology and Therapeutics by the Clinical Pharmacogenetics Implementation Consortium (CPIC) and are available on the CPIC and PharmGKB websites. The CPIC guideline provides specific therapeutic recommendations for a number of NSAIDs (celecoxib, flurbiprofen, ibuprofen, lornoxicam, meloxicam, piroxicam and tenoxicam) based on CYP2C9 genotype.|PharmGKB|N|
CN077967|Cetuximab is a monoclonal antibody used in the treatment of metastatic colorectal cancer (mCRC) and cancer of the head and neck. Cetuximab is an epidermal growth factor receptor (EGFR) antagonist, which works by blocking the growth of cancer cells. It is administered as a weekly intravenous (IV) infusion, but in practice, is often given every other week to coincide with chemotherapy (for example, FOLFIRI or FOLFOX). Cetuximab has several off-label uses as well, which include non-small cell lung cancer, squamous cell carcinoma of the skin, and Menetrier’s disease. Interestingly, for colorectal cancer, the location of the primary tumor influences whether an individual with mCRC will respond to anti-EGFR therapy, and influences prognosis. Individuals with left-sided tumors are more likely to respond well to anti-EGFR therapy and have a better prognosis. Individuals with right-sided tumors have a worse prognosis and respond poorly to anti-EGFR therapy. However, currently only the mutation status of the tumor, and not the location of the tumor, is discussed in the drug label’s dosing recommendations. Resistance to cetuximab is associated with specific RAS mutations. The RAS family of oncogenes includes the KRAS and NRAS genes. When mutated, these genes have the ability to transform normal cells into cancerous cells. The KRAS mutations are particularly common, being detectable in 40% of metastatic colorectal tumors. The KRAS mutations often lead to constitutive activation of the mitogen-activated protein kinase (MAPK) pathway and are associated with resistance to anti-EGFR drugs such as cetuximab. In addition, mutations in NRAS and another gene, BRAF, have been associated with poor response to anti-EGFR therapy; however, BRAF mutation does not explicitly preclude anti-EGFR therapy. Combination therapies targeting both BRAF and EGFR have shown to improve survival for individuals with wild-type RAS and mutant BRAF. The 2018 FDA-approved drug label for cetuximab states that for mCRC, cetuximab is indicated for K- and N-RAS wild-type (no mutation), EGFR-expressing tumors. The label states that an FDA-approved test must be used to confirm the absence of a RAS mutation (in either KRAS or NRAS) prior to starting cetuximab. While the FDA label also states that EGFR expression should also be confirmed by an approved test prior to starting therapy for mCRC, this is largely not implemented in practice, nor is it recommended by professional oncology society guidelines. Similarly, the 2015 Update from the American Society of Clinical Oncology (ASCO) states that anti-EGFR therapy should only be considered for the treatment of individuals whose tumor is determined to not have mutations detected after extended RAS testing. The 2020 National Comprehensive Cancer Network (NCCN) guideline also strongly recommends KRAS/NRAS genotyping of tumor tissue in all individuals with mCRC. In addition, the guideline states the V600E  mutation in the BRAF gene makes a response to cetuximab (and panitumumab) highly unlikely unless given a BRAF inhibitor.|Medical Genetics Summaries|N|
CN077969|Chloroquine is used for the treatment of uncomplicated malaria and extra-intestinal amebiasis. Malaria is caused by infection of Plasmodium parasites. Chloroquine is active against the erythrocytic forms of susceptible strains of Plasmodium falciparum (P. falciparum), Plasmodium malariae (P. malariae), Plasmodium ovale (P. ovale), and Plasmodium Vivax (P. vivax). Chloroquine is not active against the gametocytes and the exoerythrocytic forms including the hypnozoite stage (P. vivax and P. ovale) of the Plasmodium parasites. Additionally, resistance to chloroquine and hydroxychloroquine has been reported in Plasmodium species, thus chloroquine therapy is not indicated if the infection arose in a region with known resistance. Chloroquine is used in first-line treatment of P. vivax malaria with primaquine. Studies have indicated chloroquine is effective against the trophozoites of Entamoeba histolytica (E. histolytica), which causes amebic dysentery, or amebiasis.  Chloroquine also has off-label uses for treatment of rheumatic diseases and has been investigated as a potential antiviral therapy as well as an adjuvant chemotherapy for several types of cancer. 
Chloroquine accumulates in cellular acidic compartments such as the parasitic food vacuole and mammalian lysosomes, leading to alkalinization of these structures. This change in pH can impair the action of enzymes responsible for the formation of hemozoin by the parasite from ingestion of the host’s hemoglobin; this reaction occurs in the parasitic vacuole. Thus, chloroquine targets the blood-stage of the malaria parasites but cannot eliminate dormant hypnozoites and must be administered with a drug that targets the dormant parasitic form. Chloroquine, developed in the 1940s, has been superseded as the first-line recommended antimalarial therapy by both the US Centers for Disease Control (CDC) and World Health Organization (WHO), with the exceptions of during the first trimester of pregnancy or for malarial prophylaxis of a pregnant individual who is also deficient for glucose-6-phosphate dehydrogenase (G6PD). Among antimalarial medications, chloroquine is less likely than other medicines to cause hemolysis in G6PD-deficient individuals; however, the FDA-approved drug label states there is still a risk of hemolysis. In contrast, the Clinical Pharmacogenetics Implementation Consortium (CPIC) performed a systematic review of the available clinical literature and found low-to-no risk of acute hemolytic anemia for individuals with G6PD deficiency who take hydroxychloroquine or chloroquine. It should be noted that G6PD deficiency has a range of severity; CPIC advises caution for all medications when used by an individual with a severe G6PD deficiency with chronic non-spherocytic hemolytic anemia (CNSHA).|Medical Genetics Summaries|N|
CN077971|Clozapine is one of the most effective antipsychotics available in the treatment of schizophrenia and the only antipsychotic found to be effective in treatment-resistant schizophrenia (TRS). Clozapine is also used to reduce the risk of recurrent suicidal behavior in individuals with schizophrenia or schizoaffective disorder. 
Compared with typical antipsychotics, clozapine is far less likely to cause movement disorders, known as extrapyramidal side effects, which include dystonia, akathisia, parkinsonism, and tardive dyskinesia. However, there are significant risks associated with clozapine therapy that limits its use to only the most severely ill individuals who have not responded adequately to standard drug therapy. Most notably, because of the risk of clozapine-induced agranulocytosis, clozapine treatment requires monitoring of white blood cell counts (WBC) and absolute neutrophil counts (ANC), and in the US, the FDA requires that individuals receiving clozapine be enrolled in a computer-based registry. There is also a propensity for clozapine use to induce metabolic effects, resulting in substantial weight gain.
Clozapine is metabolized in the liver by the cytochrome P450 (CYP450) superfamily of enzymes. The CYP1A2 enzyme is the main CYP enzyme involved in clozapine metabolism, and CYP1A2 activity is a potential determinant of clozapine dose requirements. Other CYP enzymes involved in clozapine metabolism include CYP2D6, CYP3A4, and CYP2C19. 
The FDA-approved drug label states that a subset of the population (2–10%) have reduced activity of CYP2D6 (“poor metabolizers”[PMs]) and these individuals may develop higher than expected plasma concentrations of clozapine with typical standard doses. Therefore, the FDA states that a dose reduction may be necessary in individuals who are CYP2D6 PMs. However, the Dutch Pharmacogenetics Working Group (DPWG) does not recommend dose alterations based on CYP2D6 genotype, though the gene-drug interaction is acknowledged. The DPWG further states that there is not a gene-drug interaction between CYP1A2 and clozapine due to the limited effect of known genetic variants on CYP1A2 function. Consequently, neither the FDA nor the DPWG recommend dose alterations based on CYP1A2 genotype. 
Additionally, clozapine clearance is affected by gender, tobacco use, and ethnicity, with further contributions from pharmacologic interactions. Females have lower CYP1A2 enzyme activity than males. Non-smokers have lower CYP1A2 activity than smokers and Asians and Amerindians have lower activity than Caucasians. Clozapine clearance can also be affected by co-medications that induce or inhibit CYP1A2 and the presence of inflammation or obesity.|Medical Genetics Summaries|N|
CN077977|Diazepam is a benzodiazepine with several clinical uses, including managing anxiety, insomnia, muscle spasms, seizures, and alcohol withdrawal. Brand names include Valium, Diastat Acudial, Diastat, and Diazepam Intensol. Diazepam is primarily metabolized by CYP3A4 and CYP2C19 to the major active metabolite, desmethyldiazepam. Approximately 2% of Europeans, 13% of East Asians, and as much as 57% of Oceanians have reduced or absent CYP2C19 enzyme activity (“poor metabolizers”). The FDA-approved drug label for diazepam gel states that "the marked inter-individual variability in the clearance of diazepam reported in the literature is probably attributable to variability of CYP2C19." However, the most recent drug label for oral formulations (tablet and liquid) only briefly discusses CYP2C19 in the context of potential drug interactions. Diazepam is available in multiple formulations including tablets, rectal gel, injectable solution, and oral solutions. The injectable solution does not discuss potential pharmacogenetic interactions with CYP2C19.|Medical Genetics Summaries|N|
CN077978|Polymorphisms in CYP2D6 and CYP2C19 affect the efficacy and safety of tricyclics, with some drugs being affected by CYP2D6 only, and others by both polymorphic enzymes. Amitriptyline, clomipramine, doxepin, imipramine, and trimipramine are demethylated by CYP2C19 to pharmacologically active metabolites. These drugs and their metabolites, along with desipramine and nortriptyline, undergo hydroxylation by CYP2D6 to less active metabolites. Evidence from published literature is presented for CYP2D6 and CYP2C19 genotype–directed dosing of tricyclic antidepressants.|Clinical Pharmacogenetics Implementation Consortium|N|
CN077982|Esomeprazole (brand name Nexium) is a proton pump inhibitor (PPI) used to treat gastroesophageal reflux disease (GERD) and to reduce the risk of gastric ulcers associated with nonsteroidal anti-inflammatory drug NSAID use. Esomeprazole is also used in the treatment of hypersecretory conditions, such as Zollinger-Ellison syndrome, and in combination with antibiotics to eradicate Helicobacter pylori (H. pylori) infection.
Esomeprazole reduces the acidity (raises the pH) in the stomach by inhibiting the secretion of gastric acid. The level of esomeprazole an individual is exposed to is influenced by several factors, such as the dose used and how quickly the drug is metabolized and inactivated.
Esomeprazole is primarily metabolized by the CYP2C19 enzyme. Individuals with increased CYP2C19 enzyme activity (“CYP2C19 ultrarapid metabolizers”) may have an insufficient response to standard doses of esomeprazole, because the drug is inactivated at a faster rate. In contrast, individuals who have reduced or absent CYP2C19 enzyme activity (i.e., CYP2C19 intermediate and poor metabolizers) have a greater exposure to esomeprazole.
The 2018 FDA-approved drug label for esomeprazole states that 3% of Caucasians, and 15–20% of Asians are CYP2C19 poor metabolizers, and that poor metabolizers have approximately twice the level of exposure to esomeprazole, compared with CYP2C19 normal metabolizers. However, the drug label does not include dosing recommendations for CYP2C19 poor metabolizers.
Esomeprazole recommendations have been published by the Dutch Pharmacogenetics Working Group (DPWG) of the Royal Dutch Association for the Advancement of Pharmacy (KNMP), which indicates that no change in dosing is recommended for CYP2C19 poor, intermediate, or ultrarapid metabolizers. The DPWG states that although genetic variation in CYP2C19 influences the plasma concentration of esomeprazole, there is insufficient evidence to support an effect on treatment outcomes or side effects.|Medical Genetics Summaries|N|
CN077983|5-fluorouracil is a chemotherapeutic agent, and a member of the fluoropyrimidine group of substances. It is mainly used to treat solid tumors, such as colorectal, breast and aerodigestive cancers. Dihydropyrimidine dehydrogenase (DPD, encoded by the DPYD gene) is the rate-limiting enzyme for fluoropyrimidine metabolism and is therefore responsible for the detoxification of these types of drugs. Patients who are homozygous for variants in DPYD that lead to a non-functional protein, such as *2A or *13, have a high risk of severe or fatal drug toxicities and may benefit from receiving an alternative chemotherapeutic drug. Patients heterozygous for these variants also have an increased risk for drug toxicities, and reduced dosing is recommended for these individuals. Guidelines regarding the use of pharmacogenomic tests in dosing for 5-fluorouracil have been published in Clinical Pharmacology and Therapeutics by the Clinical Pharmacogenetics Implementation Consortium (CPIC) and are available on the PharmGKB website.|PharmGKB|N|
CN077989|Irinotecan (brand name Camptosar) is a topoisomerase I inhibitor widely used in the treatment of cancer. It is most frequently used in combination with other drugs to treat advanced or metastatic colorectal cancer. However, irinotecan therapy is associated with a high incidence of toxicity, including severe neutropenia and diarrhea.
Irinotecan is converted in the body to an active metabolite known as SN-38, which is then inactivated and detoxified by a UDP-glucuronosyltransferase (UGT) enzyme encoded by the UGT1A1 gene. The UGT enzymes are responsible for glucuronidation, a process that transforms lipophilic metabolites into water-soluble metabolites that can be excreted from the body.
The risk of irinotecan toxicity increases with genetic variants associated with reduced UGT enzyme activity, such as UGT1A1*28. The presence of this variant results in reduced excretion of irinotecan metabolites, which leads to increased active irinotecan metabolites in the blood. Approximately 10% of North Americans carry 2 copies of the UGT1A1*28 allele (homozygous, UGT1A1 *28/*28), and are more likely to develop neutropenia following irinotecan therapy.
The FDA-approved drug label for irinotecan states that “when administered as a single-agent, a reduction in the starting dose by at least one level of irinotecan hydrochloride injection should be considered for patients known to be homozygous for the UGT1A1*28 allele. However, the precise dose reduction in this patient population is not known and subsequent dose modifications should be considered based on individual patient tolerance to treatment”.
The Dutch Pharmacogenetics Working Group (DPWG) of the Royal Dutch Association for the Advancement of Pharmacy (KNMP) recommends starting with 70% of the standard dose for homozygous carriers of the UGT1A1*28 allele. If the patient tolerates this initial dose, the dose can be increased guided by the neutrophil count. They state that no action is needed for heterozygous carriers of the UGT1A1*28 allele (e.g., UGT1A1 *1/*28). In addition, the French National Network of Pharmacogenetics (RNPGx) has proposed a decision tree for guiding irinotecan prescribing based on the UGT1A1 genotype and irinotecan dose.|Medical Genetics Summaries|N|
CN077994|Maraviroc is a chemokine receptor antagonist that is used in combination with other antiretroviral agents to treat human immunodeficiency virus type 1 (HIV-1) infection. Maraviroc exerts its therapeutic activity by blocking entry of the HIV-1 virus into immune cells—specifically the CD4-expressing T-helper cells, which play a major role in protecting the body from infection—precursor cells, and dendritic cells. HIV-1 infection is classified in two major forms according to the co-receptor it employs to gain entry in to the cell, namely the chemokine receptor 5 (CCR5) or the CXC chemokine receptor 4 (CXCR4). These co-receptors are expressed on different types of cells, and HIV tropism refers to the types of cells and tissues in which the virus infects and replicates. A tropism assay is conducted to determine which co-receptor the HIV-1 virus uses, i.e., whether the virus is CCR5-tropic, CXCR4-tropic, dual tropic (i.e., HIV-1 virus that is able to use both receptors), or mixed tropic (i.e., a mixture of HIV-1 viruses, some of which use CCR5 and others that use CXCR4). Maraviroc is only indicated for treatment of adults with CCR5 tropic HIV-1 and is not recommended when the CXCR4-tropic virus has been detected. The FDA-approved drug label for maraviroc states that “prior to initiation of maraviroc, test all patients for CCR5 tropism using a highly sensitive tropism assay”.|Medical Genetics Summaries|N|
CN077995|The thiopurines include azathioprine (a pro-drug for mercaptopurine), mercaptopurine and thioguanine.  They are used to treat a variety of immunological disorders such as rheumatoid arthritis, non- Hodgkin lymphoma and ulcerative colitis. Both mercaptopurine and thioguanine can exert cytotoxic effects through the formation of thioguanine nucleotides (TGNs), active metabolites that incorporate into DNA. Mercaptopurine and thioguanine are directly inactivated by thiopurine S-methyltransferase (TPMT). Individuals with two nonfunctional TPMT alleles are at 100% risk of potentially fatal myelosuppression, due to an increased buildup of toxic TGNs. Alternative agents or a drastically reduced dose are recommended for patients with this genotype. Patients heterozygous for a nonfunctional TPMT allele are at increased risk of myelosuppression, and reduced dosing is recommended for these individuals. These dosing guidelines have been published in Clinical Pharmacology and Therapeutics by the Clinical Pharmacogenetics Implementation Consortium (CPIC) and are available on the PharmGKB website.|PharmGKB|N|
CN077996|Metoprolol is a beta blocker used in the treatment of hypertension, angina, and heart failure. Metoprolol selectively blocks beta1 adrenoreceptors mainly expressed in cardiac tissue. Blockade of these receptors reduces the heart rate and decreases the force of heart contractions. Metoprolol is primarily metabolized by the CYP2D6 enzyme. Approximately 8% of Caucasians and 2% of most other populations have absent CYP2D6 activity and are known as “CYP2D6 poor metabolizers.” In addition, a number of drugs inhibit CYP2D6 activity, such as quinidine, fluoxetine, paroxetine, and propafenone. The FDA-approved drug label for metoprolol states that CYP2D6 poor metabolizers, and normal metabolizers who concomitantly take drugs that inhibit CYP2D6, will have increased (several-fold) metoprolol blood levels, decreasing metoprolol’s cardioselectivity. The Dutch Pharmacogenetics Working Group (DPWG) of the Royal Dutch Association for the Advancement of Pharmacy (KNMP) has published metoprolol dosing recommendations based on CYP2D6 genotype. For individuals who have a CYP2D6 gene variation that reduces the conversion of metoprolol to inactive metabolites, DPWG states that the clinical consequences are limited mainly to the occurrence of asymptomatic bradycardia. For CYP2D6 poor metabolizers, if a gradual reduction in heart rate is desired, or in the event of symptomatic bradycardia, DPWG recommends increasing the dose of metoprolol in smaller steps and/or prescribing no more than 25% of the standard dose. For other cases, no action is required. Please note: Beta blockers such as metoprolol have been demonstrated in several large trials to be safe and effective for treatment of patients with cardiovascular disease. As a mainstay of therapy associated with improvements in quality of life, hospitalization rates, and survival, clinical care pathways that might lead to underutilization of beta blockers require scrutiny. FDA points out that CYP2D6 poor metabolizers will have decreased cardioselectivity for metoprolol due to increased metoprolol blood levels. Yet, it is common clinical practice to adjust the dose of metoprolol according to the patient’s heart rate. FDA does not specifically comment on the role of genetic testing for initiating therapy.|Medical Genetics Summaries|N|
CN077999|Panitumumab is a monoclonal antibody used for the treatment of metastatic colorectal cancer (mCRC). Panitumumab is an epidermal growth factor receptor (EGFR) antagonist, which works by blocking the growth of cancer cells. It is administered every 14 days as an intravenous (IV) infusion, often with chemotherapy. Panitumumab is approved for first-line therapy with folinic acid, fluorouracil, and oxaliplatin (FOLFOX) and as monotherapy following disease progression after prior treatment with fluoropyrimidine-, oxaliplatin-, and irinotecan-containing chemotherapy. The location of the primary tumor correlates whether an individual with mCRC is likely respond to anti-EGFR therapy. Individuals with left-sided tumors are more likely to respond well to anti-EGFR therapy and have a better prognosis. Individuals with right-sided tumors have a worse prognosis and respond poorly to anti-EGFR therapy. However, only the genetic variation status of the tumor, and not the location of the tumor, is discussed in the FDA drug label’s dosing recommendations.
Resistance to panitumumab is associated with specific RAS mutations. The RAS is a family of oncogenes that includes the KRAS and NRAS genes. When mutated, these genes have the ability to transform normal cells into cancerous cells by providing a continual growth stimulus to cells. The KRAS mutations are particularly common, being detectable in 40% of metastatic colorectal tumors. The KRAS mutations often lead to constitutive activation of the EGFR and are associated with resistance to anti-EGFR drugs such as panitumumab. Mutations in NRAS and another gene, BRAF, have also been associated with poor response to anti-EGFR therapy. The 2017 FDA-approved label states that panitumumab is indicated for wild-type RAS (no mutations in either KRAS or NRAS) mCRC. The label states that an FDA-approved test must be used to confirm the absence of RAS mutations before starting panitumumab, and that panitumumab is not indicated for the treatment of individuals with colorectal cancer with RAS mutations (in either NRAS or KRAS), or when the RAS genetic variation status is unknown. Similarly, the 2015 Update from the American Society of Clinical Oncology (ASCO) states that anti-EGFR therapy should only be considered for the treatment of individuals whose tumor is determined to not have variations detected after extended RAS testing. The 2020 National Comprehensive Cancer Network (NCCN) guideline also strongly recommends KRAS/NRAS genotyping of tumor tissue in all individuals with mCRC. In addition, the guideline states the V600E mutation in the BRAF gene makes a response to panitumumab highly unlikely, unless given with a BRAF inhibitor.|Medical Genetics Summaries|N|
CN078000|PEG-interferon alpha (PEG-IFN 2a and 2b, or PEG-IFN alpha), in combination with ribavirin, is used to treat Hepatitis C Virus (HCV) infection.  IFNL3 (also known as IL28B) is a member of the type 3 IFN-alpha family, which are induced by viruses and inhibit HCV replication in vitro.  Genetic variants in IFNL3 are associated with increased response (higher sustained virological response rate) to PEG-interferon alpha/ribavirin combination therapy and clearance of HCV.   In 2011, the protease inhibitors boceprevir and telaprevir were approved to treat HCV genotype 1 infection in many countries, including the United States and those in the European Union, and are now included in HCV combination therapy.  IFNL3 genotype predicts response to this combination therapy and also predicts eligibility for shorter duration of therapy.  Guidelines regarding the clinical use of PEG-interferon alpha containing regimens based on IFNL3 genotype have been published in Clinical Pharmacology and Therapeutics by the Clinical Pharmacogenetics Implementation Consortium (CPIC) and are available on the PharmGKB website.|PharmGKB|N|
CN078001|Propafenone is an antiarrhythmic medication. It is used to prevent the reoccurrence of atrial fibrillation in patients with episodic atrial fibrillation who do not have underlying structural heart disease (propafenone may provoke proarrhythmic events in patients with structural heart disease). Propafenone belongs to class IC of antiarrhythmic agents and acts on cardiac sodium channels to inhibit action potentials. In general, because of the lack of evidence that antiarrhythmic agents improve survival, they should only be used to treat arrhythmias that are thought to be life-threatening. Propafenone is metabolized by CYP2D6, CYP3A4, and CYP1A2 enzymes. Approximately 6% of Caucasians in the US lack CYP2D6 activity, and are known as “CYP2D6 poor metabolizers”. Standard doses of propafenone will lead to higher plasma drug concentrations in poor metabolizers, compared to normal metabolizers. In addition, drugs that inhibit CYP2D6, CYP3A4, and CYP1A2 may also increase propafenone levels, which may lead to cardiac arrhythmia episodes. The FDA-approved drug label for propafenone states that the recommended dosing regimen of propafenone is the same for all patients (CYP2D6 poor metabolizers and normal metabolizers). However, the label also cautions that the simultaneous use of propafenone with both a CYP2D6 inhibitor (or in patients with CYP2D6 deficiency) and a CYP3A4 inhibitor should be avoided, because of the increased risk of causing arrhythmias and other adverse events. A guideline from The Dutch Pharmacogenetics Working Group (DPWG) of the Royal Dutch Pharmacists Association (KNMP) provides dosing recommendations for propafenone, based on CYP2D6 genotype. For CYP2D6 poor metabolizers, the guideline recommends reducing the initial dose of propafenone by 70%, ECG monitoring, and monitoring plasma concentrations. For intermediate and ultrarapid metabolizers, the guideline states there is insufficient data to allow for a calculation of dose adjustment. Therefore, it is recommended to adjust the dose in response to plasma concentration and to monitor with ECG, or select an alternative drug (e.g., sotalol, disopyramide, quinidine, amiodarone).|Medical Genetics Summaries|N|
CN078005|Rasburicase is a drug that lowers uric acid levels and is used to treat or prevent hyperuricemia. It is contraindicated in patients with G6PD deficiency, a condition resulting from variants within the G6PD gene, which increases susceptibility to hemolytic anemia.  Although the presence of known G6PD genetic variants may be able to be used to establish a diagnosis of G6PD deficiency, in most cases, a red blood cell G6PD enzyme activity assay remains required to assign G6PD status. Therapeutic guidelines for rasburicase based on G6PD genotype have been published in Clinical Pharmacology and Therapeutics by the Clinical Pharmacogenetics Implementation Consortium (CPIC) and are available on the PharmGKB website.|PharmGKB|N|
CN078009|Risperidone is the most commonly prescribed antipsychotic medication in the US. It is an atypical (second generation) antipsychotic used in the treatment of schizophrenia, bipolar disorder, severe dementia, and irritability associated with autism. Risperidone is metabolized to the active metabolite 9-hydroxyrisperidone by the enzyme CYP2D6 and to a lesser extent by CYP3A4. Individuals who carry two inactive copies of the CYP2D6 gene are termed “poor metabolizers” and may have a decreased capacity to metabolize risperidone. These individuals may be at a higher risk of adverse effects because of increased exposure to plasma risperidone, compared to normal metabolizers, who carry two active copies of CYP2D6. Individuals who are CYP2D6 ultrarapid metabolizers (who carry more than two functional copies of CYP2D6) may have a decreased response to therapy, resulting from lower steady-state risperidone concentrations. The FDA-approved drug label states that analysis of clinical studies involving a modest number of poor metabolizers (n=70) does not suggest that poor and extensive (normal) metabolizers have different rates of adverse effects. In addition, the Dutch Pharmacogenetics Working Group (DPWG) recently changed its dosing recommendations to “no action is needed” for CYP2D6 poor metabolizers taking risperidone.|Medical Genetics Summaries|N|
CN078013|Tamoxifen is a selective estrogen receptor modulator (SERM) utilized in breast cancer treatment. Tamoxifen is extensively metabolized, in part by CYP2D6. Patients with certain CYP2D6 genetic polymorphisms and patients who receive strong CYP2D6 inhibitors exhibit lower endoxifen concentrations and a higher risk of disease recurrence in some studies of tamoxifen adjuvant therapy of early breast cancer. The CPIC guideline and supplement summarize evidence from the literature and provide therapeutic recommendations for tamoxifen based on CYP2D6 genotype. Therapeutic guidelines for tamoxifen based on CYP2D6 genotype have been published in Clinical Pharmacology and Therapeutics by the Clinical Pharmacogenetics Implementation Consortium (CPIC) and are available on the CPIC and the PharmGKB website.|PharmGKB|N|
CN078014|PEG-interferon alpha (PEG-IFN 2a and 2b, or PEG-IFN alpha), in combination with ribavirin, is used to treat Hepatitis C Virus (HCV) infection.  IFNL3 (also known as IL28B) is a member of the type 3 IFN-alpha family, which are induced by viruses and inhibit HCV replication in vitro.  Genetic variants in IFNL3 are associated with increased response (higher sustained virological response rate) to PEG-interferon alpha/ribavirin combination therapy and clearance of HCV.   In 2011, the protease inhibitors boceprevir and telaprevir were approved to treat HCV genotype 1 infection in many countries, including the United States and those in the European Union, and are now included in HCV combination therapy.  IFNL3 genotype predicts response to this combination therapy and also predicts eligibility for shorter duration of therapy.  Guidelines regarding the clinical use of PEG-interferon alpha containing regimens based on IFNL3 genotype have been published in Clinical Pharmacology and Therapeutics by the Clinical Pharmacogenetics Implementation Consortium (CPIC) and are available on the PharmGKB website.|Clinical Pharmacogenetics Implementation Consortium|N|
CN078017|The thiopurines include azathioprine (a pro-drug for mercaptopurine), mercaptopurine and thioguanine.  They are used to treat a variety of immunological disorders such as rheumatoid arthritis, non- Hodgkin lymphoma and ulcerative colitis. Both mercaptopurine and thioguanine can exert cytotoxic effects through the formation of thioguanine nucleotides (TGNs), active metabolites that incorporate into DNA. Mercaptopurine and thioguanine are directly inactivated by thiopurine S-methyltransferase (TPMT). Individuals with two nonfunctional TPMT alleles are at 100% risk of potentially fatal myelosuppression, due to an increased buildup of toxic TGNs. Alternative agents or a drastically reduced dose are recommended for patients with this genotype. Patients heterozygous for a nonfunctional TPMT allele are at increased risk of myelosuppression, and reduced dosing is recommended for these individuals. These dosing guidelines have been published in Clinical Pharmacology and Therapeutics by the Clinical Pharmacogenetics Implementation Consortium (CPIC) and are available on the PharmGKB website.|PharmGKB|N|
CN078018|Thioridazine is an antipsychotic used in the treatment of schizophrenia and psychosis. Its use is reserved for patients who have failed to respond to or cannot tolerate other antipsychotics. Thioridazine has been shown to prolong the QT interval (the time taken for the heart ventricles to depolarize and repolarize) in a dose related manner. Drugs with this potential have been associated with the life-threatening ventricular tachycardia, "torsades de pointes". The CYP2D6 enzyme is involved in metabolizing thioridazine. About 7% of the population has reduced enzyme activity because of variants in the CYP2D6 gene. In individuals with low CYP2D6 activity, standard doses of thioridazine may lead to higher drug levels in the plasma, and increase the risk of cardiac arrhythmias. The FDA-approved drug label for thioridazine states that thioridazine is contraindicated in individuals who are known to have reduced levels of CYP2D6 activity. The label also states it is contraindicated to coadminister thioridazine with drugs that inhibit CYP2D6 (e.g., fluoxetine, paroxetine) or inhibit the metabolism of thioridazine (e.g., fluvoxamine, propranolol, and pindolol).|Medical Genetics Summaries|N|
CN078023|Tramadol, an opioid analgesic, is used for the treatment of pain. It is metabolized by cytochrome P450-2D6 (CYP2D6) to O-desmethyltramdol, an active metabolite with pain-relief action. The CYP2D6 gene has many polymorphisms that result in different enzyme activities. An individual can be an ultrarapid, normal, intermediate, or poor metabolizer of tramadol, based on their CYP2D6 genotype. The CYP2D6 ultrarapid phenotype is associated with a higher risk of severe toxicity when treated with tramadol, due to increased metabolism of tramadol and thus enhanced formation of the active metabolite. Conversely, the CYP2D6 poor metabolizer phenotype is associated with ineffective pain relief from tramadol treatment due to reduced formation of the active metabolite. Accordingly, therapeutic recommendations for tramadol based on an individual’s CYP2D6 genotype have been published by the Clinical Pharmacogenetics Implementation Consortium (CPIC) in Clinical Pharmacology and Therapeutics and are available on the PharmGKB website.|PharmGKB|N|
CN078025|Trastuzumab is a monoclonal antibody used in the treatment of breast and gastric/gastroesophageal cancer. It targets an epidermal growth factor receptor encoded by the ERBB2 gene, which is commonly referred to as the HER2 gene. Multiple biosimilar products to Herceptin are now available: Kanjinti, Trazimera, Ontruzant, Herzuma and Ogivri. The ERBB2 gene is overexpressed in 15–20% of breast cancers and 15–20% of gastric and esophageal cancers. Overall, “HER2 positive” tumors are associated with a faster rate of growth and—in some cases—a poorer prognosis in absence of anti-HER2 therapy. The use of trastuzumab in treatment regimens improves outcomes, with limited adverse effects that include cardiac toxicity. The FDA-approved drug label states that trastuzumab should only be used to treat individuals with tumors that have either HER2 protein overexpression or ERBB2 gene amplification, as determined by an accurate and validated FDA-approved assay, specific for the type of tumor tested (breast or gastric). The FDA-approved drug label for all trastuzumab biosimilars describes only the use of trastuzumab in adjuvant treatment of breast cancer, though its efficacy in neoadjuvant care for breast cancer and esophageal adenocarcinoma has also been documented. The most recent update (2018) of the American Society of Clinical Oncology (ASCO)/College of American Pathologists (CAP) guidelines continues to state that all newly diagnosed individuals with breast cancer must have an HER2 test performed. Individuals who then develop metastatic disease must have an HER2 test performed in a metastatic site, if tissue sample is available.|Medical Genetics Summaries|N|
CN078028|Serotonin reuptake inhibitor antidepressants, such as selective serotonin reuptake inhibitors (SSRIs), serotonin and norepinephrine reuptake inhibitors (SNRIs), and serotonin modulators with SSRI-like properties are pharmacotherapy options for major depressive and anxiety disorders. Inadequate response and treatment-related adverse events are known challenges in antidepressant therapy. Genetic variations in genes encoding the drug metabolizing enzymes, CYP2D6, CYP2C19 and CYP2B6, have been shown to alter antidepressant biotransformation, which may potentially affect dosing, efficacy, and tolerability.|PharmGKB|N|
CN078133|An inherited susceptibility or predisposition to developing Asperger sydrome.|MONDO|N|
CN117565|A type of hydrocele testis in which the processus vaginalis remains patent only around the testes, and, as fluid accumulates, it renders the testes impalpable.|HPO|N|
CN117976|Collagen VI-related dystrophies (COL6-RDs) represent a continuum of overlapping clinical phenotypes with Bethlem muscular dystrophy at the milder end, Ullrich congenital muscular dystrophy (UCMD) at the more severe end, and a phenotype in between UCMD and Bethlem muscular dystrophy, referred to as intermediate COL6-RD. Bethlem muscular dystrophy is characterized by a combination of proximal muscle weakness and joint contractures. Hypotonia and delayed motor milestones occur in early childhood; mild hypotonia and weakness may be present congenitally. By adulthood, there is evidence of proximal weakness and contractures of the elbows, Achilles tendons, and long finger flexors. The progression of weakness is slow, and more than two thirds of affected individuals older than age 50 years remain independently ambulatory indoors, while relying on supportive means for mobility outdoors. Respiratory involvement is not a consistent feature. UCMD is characterized by congenital weakness, hypotonia, proximal joint contractures, and striking hyperlaxity of distal joints. Decreased fetal movements are frequently reported. Some affected children acquire the ability to walk independently; however, progression of the disease results in a loss of ambulation by age ten to eleven years. Early and severe respiratory insufficiency occurs in all individuals, resulting in the need for nocturnal noninvasive ventilation (NIV) in the form of bilevel positive airway pressure (BiPAP) by age 11 years. Intermediate COL6-RD is characterized by independent ambulation past age 11 years and respiratory insufficiency that is later in onset than in UCMD and results in the need for NIV in the form of BiPAP by the late teens to early 20s. In contrast to individuals with Bethlem muscular dystrophy, those with intermediate COL6-RD typically do not achieve the ability to run, jump, or climb stairs without use of a railing.|GeneReviews|N|
CN118832|The cartilage-hair hypoplasia – anauxetic dysplasia (CHH-AD) spectrum disorders are a continuum that includes the following phenotypes: Metaphyseal dysplasia without hypotrichosis (MDWH). Cartilage-hair hypoplasia (CHH). Anauxetic dysplasia (AD). CHH-AD spectrum disorders are characterized by severe disproportionate (short-limb) short stature that is usually recognized in the newborn, and occasionally prenatally because of the short extremities. Other findings include joint hypermobility, fine silky hair, immunodeficiency, anemia, increased risk for malignancy, gastrointestinal dysfunction, and impaired spermatogenesis. The most severe phenotype, AD, has the most pronounced skeletal phenotype, may be associated with atlantoaxial subluxation in the newborn, and may include cognitive deficiency. The clinical manifestations of the CHH-AD spectrum disorders are variable, even within the same family.|GeneReviews|N|
CN118836|The phenotypic spectrum of GARS1-associated axonal neuropathy ranges from GARS1 infantile-onset SMA (GARS1-iSMA) to GARS1 adolescent- or early adult-onset hereditary motor/sensory neuropathy (GARS1-HMSN). GARS1-iSMA. Age of onset ranges from the neonatal period to the toddler years. Initial manifestations are typically respiratory distress, poor feeding, and muscle weakness (distal greater than proximal). Weakness is slowly progressive, ultimately requiring mechanical ventilation and feeding via gastrostomy tube. GARS1-HMSN. Age of onset is most commonly during the second decade (range eight to 36 years). Initial manifestations are typically muscle weakness in the hands sometimes with sensory deficits. Lower limb involvement (seen in ~50% of individuals) ranges from weakness and atrophy of the extensor digitorum brevis and weakness of toe dorsiflexors to classic peroneal muscular atrophy with foot drop and a high steppage gait.|GeneReviews|N|
CN119607|Xeroderma pigmentosum (XP) is characterized by: Acute sun sensitivity (severe sunburn with blistering, persistent erythema on minimal sun exposure) with marked freckle-like pigmentation of the face before age two years; Sunlight-induced ocular involvement (photophobia, severe keratitis, atrophy of the skin of the lids, ocular surface neoplasms); Greatly increased risk of sunlight-induced cutaneous neoplasms (basal cell carcinoma, squamous cell carcinoma, melanoma) within the first decade of life. Approximately 25% of affected individuals have neurologic manifestations (acquired microcephaly, diminished or absent deep tendon stretch reflexes, progressive sensorineural hearing loss, progressive cognitive impairment, and ataxia). The most common causes of death are skin cancer, neurologic degeneration, and internal cancer. The median age at death in persons with XP with neurodegeneration (29 years) was found to be younger than that in persons with XP without neurodegeneration (37 years).|GeneReviews|N|
CN119608|Congenital myasthenic syndrome is a group of conditions characterized by muscle weakness (myasthenia) that worsens with physical exertion. The muscle weakness typically begins in early childhood but can also appear in adolescence or adulthood. Facial muscles, including muscles that control the eyelids, muscles that move the eyes, and muscles used for chewing and swallowing, are most commonly affected. However, any of the muscles used for movement (skeletal muscles) can be affected in this condition. Due to muscle weakness, affected infants may have feeding difficulties. Development of motor skills such as crawling or walking may be delayed. The severity of the myasthenia varies greatly, with some people experiencing minor weakness and others having such severe weakness that they are unable to walk.\n\nSome individuals have episodes of breathing problems that may be triggered by fevers or infection. Severely affected individuals may also experience short pauses in breathing (apnea) that can lead to a bluish appearance of the skin or lips (cyanosis).|MedlinePlus Genetics|N|
CN120377|HEXA disorders are best considered as a disease continuum based on the amount of residual beta-hexosaminidase A (HEX A) enzyme activity. This, in turn, depends on the molecular characteristics and biological impact of the HEXA pathogenic variants. HEX A is necessary for degradation of GM2 ganglioside; without well-functioning enzymes, GM2 ganglioside builds up in the lysosomes of brain and nerve cells. The classic clinical phenotype is known as Tay-Sachs disease (TSD), characterized by progressive weakness, loss of motor skills beginning between ages three and six months, decreased visual attentiveness, and increased or exaggerated startle response with a cherry-red spot observable on the retina followed by developmental plateau and loss of skills after eight to ten months. Seizures are common by 12 months with further deterioration in the second year of life and death occurring between ages two and three years with some survival to five to seven years. Subacute juvenile TSD is associated with normal developmental milestones until age two years, when the emergence of abnormal gait or dysarthria is noted followed by loss of previously acquired skills and cognitive decline. Spasticity, dysphagia, and seizures are present by the end of the first decade of life, with death within the second decade of life, usually by aspiration. Late-onset TSD presents in older teens or young adults with a slowly progressive spectrum of neurologic symptoms including lower-extremity weakness with muscle atrophy, dysarthria, incoordination, tremor, mild spasticity and/or dystonia, and psychiatric manifestations including acute psychosis. Clinical variability even among affected members of the same family is observed in both the subacute juvenile and the late-onset TSD phenotypes.|GeneReviews|N|
CN120381|C3 glomerulopathy (C3G) is a complex ultra-rare complement-mediated renal disease caused by uncontrolled activation of the complement alternative pathway (AP) in the fluid phase (as opposed to cell surface) that is rarely inherited in a simple mendelian fashion. C3G affects individuals of all ages, with a median age at diagnosis of 23 years. Individuals with C3G typically present with hematuria, proteinuria, hematuria and proteinuria, acute nephritic syndrome or nephrotic syndrome, and low levels of the complement component C3. Spontaneous remission of C3G is uncommon, and about half of affected individuals develop end-stage renal disease (ESRD) within ten years of diagnosis, occasionally developing the late comorbidity of impaired visual acuity.|GeneReviews|N|
CN120574|Family members with GEFS+ may have different combinations of febrile seizures and epilepsy. For example, one affected family member may have only febrile seizures, while another also has myoclonic epilepsy. While GEFS+ is usually diagnosed in families, it can occur in individuals with no history of the condition in their family.\n\nSome people with GEFS+ have seizure disorders of intermediate severity that may not fit into the classical diagnosis of simple febrile seizures, FS+, or Dravet syndrome.\n\nA condition called Dravet syndrome (also known as severe myoclonic epilepsy of infancy or SMEI) is often considered part of the GEFS+ spectrum and is the most severe disorder in this group. Affected infants typically have prolonged seizures lasting several minutes (status epilepticus), which are triggered by fever. Other seizure types, including afebrile seizures, begin in early childhood. These types can include myoclonic or absence seizures. In Dravet syndrome, these seizures are difficult to control with medication, and they can worsen over time. A decline in brain function is also common in Dravet syndrome. Affected individuals usually develop normally in the first year of life, but then development stalls, and some affected children lose already-acquired skills (developmental regression). Many people with Dravet syndrome have difficulty coordinating movements (ataxia) and intellectual disability.\n\nThe most common and mildest feature of the GEFS+ spectrum is simple febrile seizures, which begin in infancy and usually stop by age 5. When the febrile seizures continue after age 5 or other types of seizure develop, the condition is called febrile seizures plus (FS+). Seizures in FS+ usually end in early adolescence.\n\nGenetic epilepsy with febrile seizures plus (GEFS+) is a spectrum of seizure disorders of varying severity. GEFS+ is usually diagnosed in families whose members have a combination of febrile seizures, which are triggered by a high fever, and recurrent seizures (epilepsy) of other types, including seizures that are not related to fevers (afebrile seizures). The additional seizure types usually involve both sides of the brain (generalized seizures); however, seizures that involve only one side of the brain (partial seizures) occur in some affected individuals. The most common types of seizure in people with GEFS+ include myoclonic seizures, which cause involuntary muscle twitches; atonic seizures, which involve sudden episodes of weak muscle tone; and absence seizures, which cause loss of consciousness for short periods that appear as staring spells.|MedlinePlus Genetics|N|
CN121478|Usher syndrome type I (USH1) is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa (RP). Unless fitted with a cochlear implant, individuals do not typically develop speech. RP, a progressive, bilateral, symmetric degeneration of rod and cone functions of the retina, develops in adolescence, resulting in progressively constricted visual fields and impaired visual acuity.|GeneReviews|N|
CN128903|Statins are among the most commonly prescribed drugs in the world to treat hypercholesterolemia and prevent cardiovascular diseases. They effectively lower cholesterol levels by inhibiting the HMG-CoA reductase to reduce cholesterol synthesis. Though well tolerated in general, the most common statin side effect is statin-associated musculoskeletal symptoms (SAMS) which range from myalgia, myopathy to fatal rhabdomyolysis, especially when statins are administered at higher doses and with certain other medications. Genetic variations in genes encoding the statin transporters, SLCO1B1 and ABCG2, and metabolizing enzyme, CYP2C9, have been shown to affect systemic plasma concentrations of statins and are associated with increased risk for SAMS. Guidelines regarding the use of pharmacogenomic tests in dosing for statins have been published in Clinical Pharmacology and Therapeutics by the Clinical Pharmacogenetics Implementation Consortium (CPIC) and are available on the CPIC and PharmGKB websites. The CPIC guideline provides specific therapeutic recommendations for simvastatin, atorvastatin, lovastatin, pravastatin and pitavastatin based on SLCO1B1 phenotype; rosuvastatin based on SLCO1B1 and ABCG2 phenotypes; and fluvastatin based on SLCO1B1 and CYP2C9 phenotypes. It serves as a guide for selecting the most appropriate statin and the optimal dose if pharmacogenetic test results are available.|PharmGKB|N|
CN158357|Proton pump inhibitors (PPIs) inhibit the final pathway of acid production, which leads to inhibition of gastric acid secretion. PPIs are widely used in the treatment and prevention of many conditions including gastroesophageal reflux disease, gastric and duodenal ulcers, erosive esophagitis, H. pylori infection, and pathological hypersecretory conditions. The first-generation inhibitors omeprazole, lansoprazole and pantoprazole are extensively metabolized by the cytochrome P450 isoform CYP2C19 and to a lesser extent by CYP3A4. The second-generation PPI dexlansoprazole appears to share a similar metabolic pathway to lansoprazole. CYP2C19 genotypes have been linked to PPI exposure and in turn to PPI efficacy and adverse effects. CYP2C19 intermediate (IMs) and poor metabolizers (PMs) have been associated with decreased clearance and increased plasma concentrations of the first-generation PPIs, which leads to increased treatment success compared to CYP2C19 normal metabolizers (NMs). However, higher exposure and long-term use of PPIs have also been associated with adverse effects. CYP2C19 ultrarapid (UMs) and rapid metabolizers (RMs) have shown increased metabolism compared to NMs, which may increase the risk of treatment failure. Guidelines regarding the use of pharmacogenomic tests in dosing for PPIs have been published in Clinical Pharmacology and Therapeutics by the Clinical Pharmacogenetics Implementation Consortium (CPIC) and are available on the CPIC and PharmGKB websites. The CPIC guideline provides specific therapeutic recommendations for four PPIs (omeprazole, lansoprazole, pantoprazole, and dexlansoprazole) based on CYP2C19 genotype.|PharmGKB|N|
CN160494|Allopurinol is widely prescribed for the treatment of hyperuricemia and gout.  An estimated 25-30% of gout patients in the UK and the US are treated with allopurinol.  However, 0.1-0.4% of patients treated with allopurinol experience severe cutaneous adverse reactions (SCAR), including drug hypersensitivity syndrome, Stevens-Johnson syndrome, and toxic epidermal necrolysis.  The genetic variant HLA-B*58:01, along with non-genetic factors, is known to be associated with this risk.  Patients who are HLA-B*58:01-positive (having at least one copy of the HLA-B*58:01 allele) have a significantly increased risk of allopurinol-induced SCAR compared to those who are negative for this allele.  It is still possible for a HLA-B*58:01 negative patient to develop SCAR on allopurinol.  Guidelines regarding the use of pharmacogenomic tests in dosing for allopurinol have been published in Clinical Pharmacology and Therapeutics by the Clinical Pharmacogenetics Implementation Consortium (CPIC) and are available on the PharmGKB website.|PharmGKB|N|
CN164251|The FLNB disorders include a spectrum of phenotypes ranging from mild to severe. At the mild end are spondylocarpotarsal synostosis (SCT) syndrome and Larsen syndrome; at the severe end are the phenotypic continuum of atelosteogenesis types I (AOI) and III (AOIII) and Piepkorn osteochondrodysplasia (POCD). SCT syndrome is characterized by postnatal disproportionate short stature, scoliosis and lordosis, clubfeet, hearing loss, dental enamel hypoplasia, carpal and tarsal synostosis, and vertebral fusions. Larsen syndrome is characterized by congenital dislocations of the hip, knee, and elbow; clubfeet (equinovarus or equinovalgus foot deformities); scoliosis and cervical kyphosis, which can be associated with a cervical myelopathy; short, broad, spatulate distal phalanges; distinctive craniofacies (prominent forehead, depressed nasal bridge, malar flattening, and widely spaced eyes); vertebral anomalies; and supernumerary carpal and tarsal bone ossification centers. Individuals with SCT syndrome and Larsen syndrome can have midline cleft palate and hearing loss. AOI and AOIII are characterized by severe short-limbed dwarfism; dislocated hips, knees, and elbows; and clubfeet. AOI is lethal in the perinatal period. In individuals with AOIII, survival beyond the neonatal period is possible with intensive and invasive respiratory support. Piepkorn osteochondrodysplasia (POCD) is a perinatal-lethal micromelic dwarfism characterized by flipper-like limbs (polysyndactyly with complete syndactyly of all fingers and toes, hypoplastic or absent first digits, and duplicated intermediate and distal phalanges), macrobrachycephaly, prominant forehead, hypertelorism, and exophthalmos. Occasional features include cleft palate, omphalocele, and cardiac and genitourinary anomalies. The radiographic features at mid-gestation are characteristic.|GeneReviews|N|
CN166604|Any Cowden disease in which the cause of the disease is a mutation in the SDHD gene.|MONDO|N|
CN167923|A form of functioning pancreatic neuroendocrine tumor characterized most commonly by a solitary, small pancreatic lesion that causes hyperinsulinemic hypoglycemia.|ORDO|N|
CN169290|Familial isolated pituitary adenoma (FIPA) is an inherited condition characterized by development of a noncancerous tumor in the pituitary gland (called a pituitary adenoma). The pituitary gland, which is found at the base of the brain, produces hormones that control many important body functions.\n\nTumors that form in the pituitary gland can release excess levels of one or more hormones, although some tumors do not produce hormones (nonfunctioning pituitary adenomas). Those that do are typically distinguished by the particular hormones they produce. Prolactinomas are the most common tumors in FIPA. These tumors release prolactin, a hormone that stimulates breast milk production in females. Both women and men can develop prolactinomas, although they are more common in women. In women, these tumors may lead to changes in the menstrual cycle or difficulty becoming pregnant. Some affected women may produce breast milk, even though they are not pregnant or nursing. In men, prolactinomas may cause erectile dysfunction or decreased interest in sex. Rarely, affected men produce breast milk. Large prolactinomas can press on nearby tissues such as the nerves that carry information from the eyes to the brain (the optic nerves), causing problems with vision.\n\nAnother type of tumor called somatotropinoma is also common in FIPA. These tumors release growth hormone (also called somatotropin), which promotes growth of the body. Somatotropinomas in children or adolescents can lead to increased height (gigantism), because the long bones of their arms and legs are still growing. In adults, growth of the long bones has stopped, but the tumors can cause overgrowth of the hands, feet, and face (acromegaly) as well as other tissues.\n\nLess common tumor types in FIPA include somatolactotropinomas, nonfunctioning pituitary adenomas, adrenocorticotropic hormone-secreting tumors (which cause a condition known as Cushing disease), thyrotropinomas, and gonadotropinomas. In a family with the condition, affected members can develop the same type of tumor (homogenous FIPA) or different types (heterogenous FIPA).\n\nIn FIPA, pituitary tumors usually occur at a younger age than sporadic pituitary adenomas, which are not inherited. In general, FIPA tumors are also larger than sporadic pituitary tumors. Often, people with FIPA have macroadenomas, which are tumors larger than 10 millimeters.\n\nFamilial pituitary adenomas can occur as one of many features in other inherited conditions such as multiple endocrine neoplasia type 1 and Carney complex; however, in FIPA, the pituitary adenomas are described as isolated because only the pituitary gland is affected.|MedlinePlus Genetics|N|
CN169291|ALS2-related disorder involves retrograde degeneration of the upper motor neurons of the pyramidal tracts and comprises a clinical continuum of the following three phenotypes: Infantile ascending hereditary spastic paraplegia (IAHSP), characterized by onset of spasticity with increased reflexes and sustained clonus of the lower limbs within the first two years of life, progressive weakness and spasticity of the upper limbs by age seven to eight years, and wheelchair dependence in the second decade with progression toward severe spastic tetraparesis and a pseudobulbar syndrome caused by progressive cranial nerve involvement. Juvenile primary lateral sclerosis (JPLS), characterized by upper motor neuron findings of pseudobulbar palsy and spastic quadriplegia without dementia or cerebellar, extrapyramidal, or sensory signs. Juvenile amyotrophic lateral sclerosis (JALS or ALS2), characterized by onset between ages three and 20 years. All affected individuals show a spastic pseudobulbar syndrome (spasticity of speech and swallowing) together with spastic paraplegia. Some individuals are bedridden by age 12 to 50 years.|GeneReviews|N|
CN169374|The term 'not specified' was created for use in ClinVar so that submitters can convey the concept that a variant is benign, likely benign, or of uncertain significance for an unspecified set of disorders.  This usage was introduced in 2014 to replace AllHighlyPenetrant.|NCBI curation|N|
CN176561|Asymmetry between the two irides or asymmetry between different parts of one iris.|HPO|N|
CN176769|Amitriptyline is a tricyclic that can be identified by the tertiary amine in its chemical structure. Tricyclics are commonly prescribed for psychological disorders and pain management. Genetic variants in both cytochrome P450 2D6 (CYP2D6) and cytochrome P450 2C19 (CYP2C19) may affect treatment success of amitriptyline or other tricyclics with the tertiary amine functional group. Patients with poor metabolizer variants of either CYP2D6 or CYP2C19 may require reductions in dose or alternative agents in order to circumvent common adverse anticholinergic, central nervous system, or cardiac effects. Guidelines regarding the use of pharmacogenomic tests in dosing for amitriptyline and other tricyclics have been published in Clinical Pharmacology and Therapeutics by the Clinical Pharmacogenetics Implementation Consortium (CPIC) and are available on the PharmGKB website.|PharmGKB|N|
CN178536|Congenital myopathy-4A (CMYP4A) is an autosomal dominant disorder of the skeletal muscle characterized by the onset of muscle weakness in infancy or childhood. The severity and pattern of muscle weakness varies, but most affected individuals show mildly delayed motor development, hypotonia, generalized muscle weakness, and weakness of the proximal limb muscles and neck muscles, resulting in difficulty running and easy fatigability. Many patients have respiratory insufficiency with reduced vital capacity, sometimes requiring noninvasive ventilatory assistance. Other common features include myopathic facies, high-arched palate, myasthenia, scapular winging, and scoliosis. Histologic findings on skeletal muscle biopsy are variable, even in patients with the same mutation. Muscle fibers can contain nemaline rod inclusions, subsarcolemmal 'cap' structures, and fiber-type disproportion (Clarke et al., 2008; Waddell et al., 2010; Malfatti et al., 2013).
For a discussion of genetic heterogeneity of congenital myopathy, see CMYP1A (117000).
For a discussion of genetic heterogeneity of nemaline myopathy, see 256030.|OMIM|N|
CN180200|CADDS is a rare, genetic, neurometabolic disease characterized by severe intrauterine growth retardation, failure to thrive, profound neonatal hypotonia, severe global development delay, elevated very long chain fatty acids in plasma, and neonatal cholestasis leading to hepatic failure and death. Other features include ocular abnormalities (e.g. blindness and cataracts), sensorineural deafness, seizures, and abnormal brain morphology (notably delayed CNS myelination and ventriculomegaly).|ORDO|N|
CN184091|Mitochondrial nonsyndromic hearing loss and deafness is characterized by sensorineural hearing loss (SNHL) of variable onset and severity. Pathogenic variants in MT-RNR1 can be associated with predisposition to aminoglycoside ototoxicity and/or late-onset SNHL. Hearing loss associated with aminoglycoside ototoxicity is bilateral and severe to profound, occurring within a few days to weeks after administration of any amount (even a single dose) of an aminoglycoside antibiotic such as gentamycin, tobramycin, amikacin, kanamycin, or streptomycin. Pathogenic variants in MT-TS1 are usually associated with childhood onset of SNHL that is generally nonsyndromic – although the MT-TS1 substitution m.7445A>G has been found in some families who also have palmoplantar keratoderma (scaling, hyperkeratosis, and honeycomb appearance of the skin of the palms, soles, and heels).|GeneReviews|N|
CN184128|PEG-interferon alpha (PEG-IFN 2a and 2b, or PEG-IFN alpha), in combination with ribavirin, is used to treat Hepatitis C Virus (HCV) infection.  IFNL3 (also known as IL28B) is a member of the type 3 IFN-alpha family, which are induced by viruses and inhibit HCV replication in vitro.  Genetic variants in IFNL3 are associated with increased response (higher sustained virological response rate) to PEG-interferon alpha/ribavirin combination therapy and clearance of HCV.   In 2011, the protease inhibitors boceprevir and telaprevir were approved to treat HCV genotype 1 infection in many countries, including the United States and those in the European Union, and are now included in HCV combination therapy.  IFNL3 genotype predicts response to this combination therapy and also predicts eligibility for shorter duration of therapy.  Guidelines regarding the clinical use of PEG-interferon alpha containing regimens based on IFNL3 genotype have been published in Clinical Pharmacology and Therapeutics by the Clinical Pharmacogenetics Implementation Consortium (CPIC) and are available on the PharmGKB website.|PharmGKB|N|
CN184129|PEG-interferon alpha (PEG-IFN 2a and 2b, or PEG-IFN alpha), in combination with ribavirin, is used to treat Hepatitis C Virus (HCV) infection.  IFNL3 (also known as IL28B) is a member of the type 3 IFN-alpha family, which are induced by viruses and inhibit HCV replication in vitro.  Genetic variants in IFNL3 are associated with increased response (higher sustained virological response rate) to PEG-interferon alpha/ribavirin combination therapy and clearance of HCV.   In 2011, the protease inhibitors boceprevir and telaprevir were approved to treat HCV genotype 1 infection in many countries, including the United States and those in the European Union, and are now included in HCV combination therapy.  IFNL3 genotype predicts response to this combination therapy and also predicts eligibility for shorter duration of therapy.  Guidelines regarding the clinical use of PEG-interferon alpha containing regimens based on IFNL3 genotype have been published in Clinical Pharmacology and Therapeutics by the Clinical Pharmacogenetics Implementation Consortium (CPIC) and are available on the PharmGKB website.|PharmGKB|N|
CN184225|Aminoglycosides are widely used antibiotics which inhibit protein synthesis in bacteria by binding to bacterial 16S ribosomal subunits. Aminoglycosides are associated with a number of adverse events, including nephrotoxicity and ototoxicity. The risk of aminoglycoside-induced ototoxicity is increased in patients who carry certain variants in the MT-RNR1 gene. MT-RNR1 is found in the mitochondrial genome and encodes the 12S ribosomal subunit. Some MT-RNR1 variants cause the 12S subunit to more closely resemble the bacterial 16S subunit, which can lead to aminoglycoside molecules binding to the ribosome. This ultimately results in hearing loss due to cell death in the cochlea. The Clinical Pharmacogenetics Implementation Consortium (CPIC) have published recommendations on aminoglycoside use in patients carrying MT-RNR1 variants in the journal Clinical Pharmacology and Therapeutics. These recommendations are also available on the CPIC and PharmGKB websites.|PharmGKB|N|
CN184545|Aminoglycosides are widely used antibiotics which inhibit protein synthesis in bacteria by binding to bacterial 16S ribosomal subunits. Aminoglycosides are associated with a number of adverse events, including nephrotoxicity and ototoxicity. The risk of aminoglycoside-induced ototoxicity is increased in patients who carry certain variants in the MT-RNR1 gene. MT-RNR1 is found in the mitochondrial genome and encodes the 12S ribosomal subunit. Some MT-RNR1 variants cause the 12S subunit to more closely resemble the bacterial 16S subunit, which can lead to aminoglycoside molecules binding to the ribosome. This ultimately results in hearing loss due to cell death in the cochlea. The Clinical Pharmacogenetics Implementation Consortium (CPIC) have published recommendations on aminoglycoside use in patients carrying MT-RNR1 variants in the journal Clinical Pharmacology and Therapeutics. These recommendations are also available on the CPIC and PharmGKB websites.|PharmGKB|N|
CN184546|Aminoglycosides are widely used antibiotics which inhibit protein synthesis in bacteria by binding to bacterial 16S ribosomal subunits. Aminoglycosides are associated with a number of adverse events, including nephrotoxicity and ototoxicity. The risk of aminoglycoside-induced ototoxicity is increased in patients who carry certain variants in the MT-RNR1 gene. MT-RNR1 is found in the mitochondrial genome and encodes the 12S ribosomal subunit. Some MT-RNR1 variants cause the 12S subunit to more closely resemble the bacterial 16S subunit, which can lead to aminoglycoside molecules binding to the ribosome. This ultimately results in hearing loss due to cell death in the cochlea. The Clinical Pharmacogenetics Implementation Consortium (CPIC) have published recommendations on aminoglycoside use in patients carrying MT-RNR1 variants in the journal Clinical Pharmacology and Therapeutics. These recommendations are also available on the CPIC and PharmGKB websites.|PharmGKB|N|
CN184547|Aminoglycosides are widely used antibiotics which inhibit protein synthesis in bacteria by binding to bacterial 16S ribosomal subunits. Aminoglycosides are associated with a number of adverse events, including nephrotoxicity and ototoxicity. The risk of aminoglycoside-induced ototoxicity is increased in patients who carry certain variants in the MT-RNR1 gene. MT-RNR1 is found in the mitochondrial genome and encodes the 12S ribosomal subunit. Some MT-RNR1 variants cause the 12S subunit to more closely resemble the bacterial 16S subunit, which can lead to aminoglycoside molecules binding to the ribosome. This ultimately results in hearing loss due to cell death in the cochlea. The Clinical Pharmacogenetics Implementation Consortium (CPIC) have published recommendations on aminoglycoside use in patients carrying MT-RNR1 variants in the journal Clinical Pharmacology and Therapeutics. These recommendations are also available on the CPIC and PharmGKB websites.|PharmGKB|N|
CN185459|Ivacaftor is the first FDA-approved drug designed to target a specific defect of the CFTR protein found in a subset of Cystic fibrosis (CF) patients. Hundreds of different variants within the CFTR gene have been identified.  The G551D variant (rs75527207 G>A) results in defective gating at the plasma membrane and, in combination with another disease-causing CFTR allele, can result in CF disease phenotypes. Ivacaftor is designed to potentiate G115D-CFTR to improve symptoms in CF patients who carry this variant. Therapeutic guidelines for ivacaftor based on CFTR genotype have been published in Clinical Pharmacology and Therapeutics by the Clinical Pharmacogenetics Implementation Consortium (CPIC) and are available on the PharmGKB website.|PharmGKB|N|
CN185913|Nonsteroidal Anti-inflammatory Drugs (NSAIDs) are among the most commonly prescribed drugs to treat pain, fever and inflammation. The main therapeutic effect of NSAIDs occurs via blocking the production of prostaglandin that cause inflammation. Hepatic metabolism by cytochrome P450 isoforms CYP2C9, 1A2, and 3A4, and renal excretion are the principal routes of clearance of the majority of NSAIDs.  Genetic variants in CYP2C9 (e.g., CYP2C9*2 and *3), along with other genetics and clinical factors, have been shown to affect systemic plasma concentrations of NSAIDs and potentially safety. Patients with CYP2C9 decreased or no function alleles may have elevated exposure and at increased risk for adverse effects. Guidelines regarding the use of pharmacogenomic tests in dosing for NSAIDs have been published in Clinical Pharmacology and Therapeutics by the Clinical Pharmacogenetics Implementation Consortium (CPIC) and are available on the CPIC and PharmGKB websites. The CPIC guideline provides specific therapeutic recommendations for a number of NSAIDs (celecoxib, flurbiprofen, ibuprofen, lornoxicam, meloxicam, piroxicam and tenoxicam) based on CYP2C9 genotype.|PharmGKB|N|
CN186176|Autosomal recessive congenital ichthyosis (ARCI) encompasses several forms of nonsyndromic ichthyosis. Although most neonates with ARCI are collodion babies, the clinical presentation and severity of ARCI may vary significantly, ranging from harlequin ichthyosis, the most severe and often fatal form, to lamellar ichthyosis (LI) and (nonbullous) congenital ichthyosiform erythroderma (CIE). These phenotypes are now recognized to fall on a continuum; however, the phenotypic descriptions are clinically useful for clarification of prognosis and management. Infants with harlequin ichthyosis are usually born prematurely and are encased in thick, hard, armor-like plates of cornified skin that severely restrict movement. Life-threatening complications in the immediate postnatal period include respiratory distress, feeding problems, and systemic infection. Collodion babies are born with a taut, shiny, translucent or opaque membrane that encases the entire body and lasts for days to weeks. LI and CIE are seemingly distinct phenotypes: classic, severe LI with dark brown, plate-like scale with no erythroderma and CIE with finer whiter scale and underlying generalized redness of the skin. Affected individuals with severe involvement can have ectropion, eclabium, scarring alopecia involving the scalp and eyebrows, and palmar and plantar keratoderma. Besides these major forms of nonsyndromic ichthyosis, a few rare subtypes have been recognized, such as bathing suit ichthyosis, self-improving collodion ichthyosis, or ichthyosis-prematurity syndrome.|GeneReviews|N|
CN199278|A rare pervasive developmental disorder characterized by the presence of a unilateral angioma on the face and autistic developmental problems including language delay and atypical social interactions. The disease may initially resemble Sturge-Weber syndrome.|ORDO|N|
CN199363|A group of rare genetic disorders which mimic physiological aging, making affected individuals appear to be older than they are.|MONDO|N|
CN199397|A rare immune-mediated inflammatory demyelinating disorder of the spinal cord with motor, sensory and autonomic involvement.|ORDO|N|
CN199486|A rare, otorhinolaryngological malformation characterized by failure in development of the external ear canal resulting in variable degree of malformations ranging from complete absence to mild stenosis and malformation of the middle ear. It is typically unilateral, it manifests with hearing loss on the affected side, and might be associated with microtia or hypoplastic pinna, an aberrant facial nerve course, and cholesteatoma.|ORDO|N|
CN200410|Primary cutaneous gamma/delta-positive T-cell lymphoma is a rare, usually aggressive, subtype of cutaneous T-cell lymphoma characterized by infiltration of the epidermis, dermis or subcutaneous tissue by a clonal population of mature, gamma/delta positive cytotoxic T-cells. Typically it presents with ulcerating plaques, tumors, or subcutaneous nodules on the skin of the extremities, however, frequent involvement of mucosal and extranodal sites (such as the nasal cavity, gastrointestinal tract or lungs) is also observed. Cases associated with panniculitis may present with hemophagocytic syndrome (abrupt onset of fever, rash, cytopenia, hepatosplenomegaly and neurological compromise). Infiltration of lymph nodes, spleen and bone marrow is uncommon and resistance to multilineage chemotherapy is reported.|ORDO|N|
CN200442|A rare, non-syndromic uterovaginal malformation characterized by a crescent-shaped, small-sized uterus containing a single horn and fallopian tube with no rudimentary horn. Urinary tract anomalies are frequently associated.|ORDO|N|
CN200907|Cerebral gigantism-jaw cysts syndrome is characterized by cerebral gigantism associated with a jaw cyst basal cell naevoid syndrome.|MONDO|N|
CN201075|A papillary carcinoma that involves the uterine cervix.|MONDO|N|
CN201794|A form of citrullinemia type I characterized clinically by adult onset of symptoms including variable hyperammonemia and less striking neurological findings which may include intense headache, scotomas, migraine-like episodes, ataxia, slurred speech, lethargy and drowsiness. Serious increased intracranial pressure may occur.|ORDO|N|
CN201837|Isolated delta-storage pool disease is a rare, isolated, constitutional thrombocytopenia disorder characterized by defective formation and/or malfunction of platelet dense granules, as well as melanosomes in skin cells, resulting in variable manifestations ranging from mild bleeding and easy bruising to moderate mucous/cutaneous hemorrhagic diathesis and bleeding complications after surgery.|ORDO|N|
CN201908|A rare, genetic hemoglobinopathy that affects red blood cells both in the production of abnormal hemoglobin, as well as the decreased synthesis of beta globin chains. Clinical manifestations depend on the amount of residual beta globin chains production, and are similar to sickle cell disease, including anemia, vascular occlusion and its complications, acute episodes of pain, acute chest syndrome, pulmonary hypertension, sepsis, ischemic brain injury, splenic sequestration crisis and splenomegaly.|ORDO|N|
CN202462|Glioependymal/ependymal cyst is a rare central nervous system malformation defined as a subarachnoid, supratentorial, interventricular or intraspinal, sometimes intracerebral or intramedullar cyst with an internal ependymal lining, possibly surrounded by glial tissue. It may be an incidental finding or may present at different ages with clinical features depending on its size and location. It may distort adjacent brain structures and cause macrocephaly, ventriculomegaly, hydrocephalus, focal neurological signs and other signs and symptoms. In some cases, it is associated with other cerebral malformations (e.g. corpus callosum agenesis, polymicrogyria, heterotopias).|ORDO|N|
CN203142|Right temporal lobar atrophy (RTLA) is an anatomic variant of frontotemporal dementia (FTD), characterized by behavioral dysfunction, personality changes, episodic memory loss, and prosopagnosia; attributable to an asymmetrical predominantly right-sided, frontotemporal atrophy.|MONDO|N|
CN203192|A rare congenital malformation characterized by underdevelopment of the thumb, ranging from a slight decrease in thumb size to complete absence of the thumb. The malformation may occur isolated, combined to other defects of the hand or upper limb, or as part of a multiple congenital anomaly syndrome.|ORDO|N|
CN203583|An inherited metabolic disease that is has its basis in the disruption of neutral amino acid transport.|MONDO|N|
CN203776|A rare neuronal ceroid lipofiscinosis disorder characterized by juvenile-onset of progressive spinocerebellar ataxia, bulbar syndrome (manifesting with dysarthria, dysphagia and dysphonia), pyramidal and extrapyramidal involvement (including myoclonus, amyotrophy, unsteady gait, akinesia, rigidity, dysarthric speech) and intellectual deterioration. Muscle biopsy displays autofluorescent bodies and lipofuscin deposits in brain and, occasionally the retina, upon post mortem.|ORDO|N|
CN203813|A rare, genetic, epidermal disorder characterized by intermittent (remitting and recurring), annular, polycyclic, target-like (or 'en cocardes') plaques with concentric rings of scaling erythema occurring on the extremities, flexural areas, and trunk. Concurrent erythrokeratoderma variabilis-like scaly plaques are commonly found in other parts of the body.|ORDO|N|
CN204195|A rare, potentially life-threatening, circulatory system disease characterized by variable signs and symptoms which may include headache, seizures, altered mental status, intracranial hypertension and cavernous sinus syndrome, among others.|ORDO|N|
CN204205|Telecanthus-hypertelorism-strabismus-pes cavus syndrome is characterized by telecanthus, hypertelorism, strabismus, pes cavus and other variable anomalies. It has been described in a father and his son. The son also had hypospadias, bilateral inguinal hernia, clinodactyly and camptodactyly of the fingers, and radiographic findings including flared metaphyses of the long bones and osteopenia.|ORDO|N|
CN204472|PLA2G6-associated neurodegeneration (PLAN) comprises a continuum of three phenotypes with overlapping clinical and radiologic features: Infantile neuroaxonal dystrophy (INAD). Atypical neuroaxonal dystrophy (atypical NAD). PLA2G6-related dystonia-parkinsonism. INAD usually begins between ages six months and three years with psychomotor regression or delay, hypotonia, and progressive spastic tetraparesis. Many affected children never learn to walk or lose the ability shortly after attaining it. Strabismus, nystagmus, and optic atrophy are common. Disease progression is rapid, resulting in severe spasticity, progressive cognitive decline, and visual impairment. Many affected children do not survive beyond their first decade. Atypical NAD shows more phenotypic variability than INAD. In general, onset is in early childhood but can be as late as the end of the second decade. The presenting signs may be gait instability, ataxia, or speech delay and autistic features, which are sometimes the only evidence of disease for a year or more. Strabismus, nystagmus, and optic atrophy are common. Neuropsychiatric disturbances including impulsivity, poor attention span, hyperactivity, and emotional lability are also common. The course is fairly stable during early childhood and resembles static encephalopathy but is followed by neurologic deterioration between ages seven and 12 years. PLA2G6-related dystonia-parkinsonism has a variable age of onset, but most individuals present in early adulthood with gait disturbance or neuropsychiatric changes. Affected individuals consistently develop dystonia and parkinsonism (which may be accompanied by rapid cognitive decline) in their late teens to early twenties. Dystonia is most common in the hands and feet but may be more generalized. The most common features of parkinsonism in these individuals are bradykinesia, resting tremor, rigidity, and postural instability.|GeneReviews|N|
CN205253|A rare developmental defect of the eye characterized by usually bilateral absence of the normal protrusion of the cornea from the sclera, the corneal curvature being the same as that of the adjacent sclera. Most patients develop hyperopia, hazy corneal limbus, and arcus lipoides at an early age. The condition may present as an autosomal dominant or an autosomal recessive form, with the latter showing more severe signs and symptoms (such as a round and opaque thickening located centrally in the cornea) and more frequent association with other ocular anomalies.|ORDO|N|
CN206692|Midline interhemispheric variant of holoprosencephaly (MIH) or syntelencephaly is a form of holoprosencephaly (HPE; see this term) characterized by non-separation of the posterior frontal and parietal lobes, normally-formed callosal genu and splenium, absence of the callosal body, normally-separated hypothalamus and lentiform nucleus, and frequent heterotopic gray matter.|ORDO|N|
CN207315|Congenital complete agenesis of pericardium is a rare, mostly asymptomatic, congenital heart malformation characterized by the complete absence of the entire pericardium, or by the absence of either the right (uncommon) or left pericardium. It is occasionally associated with chest pain (common), dyspnea, dizziness, bradycardia and syncope, while exertional manifestations are rare. The disease is usually incidentally diagnosed during surgery or at autopsy.|ORDO|N|
CN207427|Cushing syndrome due to ectopic (adrenocorticotropic hormone) ACTH secretion (EAS) is a form of ACTH-dependent Cushing syndrome (see this term) caused by excess secretion of ACTH by a benign or, more often, malignant non-pituitary tumor.|ORDO|N|
CN207439|A form of malignant germ cell tumor of ovary, arising from germ cells in the ovary, usually presenting during adolescence with pelvic mass, fever, vaginal bleeding, and acute abdomen and is characterized by bilaterality (around 10% of cases), association with dysgenetic gonads (5 to 10% of cases), elevated serum lactate dehydrogenase (LDH) and human chorionic gonadotrophin (hCG) (in the presence of syncitiotrophoblasts).|ORDO|N|
CN208474|Inability to develop or maintain an erection of the penis.|HPO|N|
CN221245|Carisoprodol is a centrally acting muscle relaxant used to relieve acute back pain. Due to the risk of dependence and abuse, carisoprodol should only be used for treatment periods of up to two or three weeks. Carisoprodolol is a Schedule IV controlled substance and carisoprodol overdose can lead to CNS respiratory depression, seizures, and death. Carisoprodol is metabolized by CYP2C19 to meprobamate, a sedative used to treat anxiety disorders. In individuals who have little or no CYP2C19 activity (“CYP2C19 poor metabolizers”), standard doses of carisoprodol can lead to a 4-fold increase in exposure to carisoprodol and a concomitant 50% reduced exposure to meprobamate compared to normal metabolizers. Approximately 3-5% of Caucasians and Africans, and 15-20% of Asians, are CYP2C19 poor metabolizers. The FDA-approved drug label for carisoprodol states that caution should be used when administering carisoprodol to patients with reduced CYP2C19 activity and when co-administering drugs that inhibit or induce CYP2C19. There are no data on the use of carisoprodol in pregnancy, and the efficacy, safety, and pharmacokinetics of carisoprodol have not been established in pediatric patients (less than 16 years of age).|Medical Genetics Summaries|N|
CN221246|Hydrocodone, an opioid analgesic, is used for the treatment of pain. It is metabolized by cytochrome P450-2D6 (CYP2D6) to hydromorphone, an active metabolite with pain-relief action. The CYP2D6 gene has many polymorphisms that result in different enzyme activities. An individual can be an ultrarapid, normal, intermediate, or poor metabolizer of hydrocodone, based on their CYP2D6 genotype. CYP2D6 intermediate and poor metabolizers may have a reduced analgesic response to hydrocodone due to decreased metabolism of hydrocodone to hydromorphone. Accordingly, therapeutic recommendations for hydrocodone based on an individual’s CYP2D6 genotype have been published by the Clinical Pharmacogenetics Implementation Consortium (CPIC) in Clinical Pharmacology and Therapeutics and are available on the PharmGKB website.|PharmGKB|N|
CN221247|Oxycodone is an opioid analgesic used for moderate to severe pain caused by various conditions for which alternative analgesic treatments are inadequate. Oxycodone exerts its analgesic affects by binding to the mu-opioid receptors (MOR) in the central and peripheral nervous system. While it is an effective pain reliever, this agent also has a high potential for addiction, abuse, and misuse. 
Oxycodone is metabolized by members of the cytochrome P450 (CYP) enzyme superfamily. The CYP3A4, CYP3A5, and CYP2D6 enzymes convert oxycodone to either less-active (CYP3A4 and CYP3A5) or more-active (CYP2D6) metabolites. Most of the analgesic effect is mediated by oxycodone itself, rather than its metabolites. Variation at the CYP3A4 and CYP3A5 loci leading to altered enzyme activity is rare. A handful of altered-function alleles are known, but there is no documented evidence to support altered oxycodone response in the presence of these variant alleles. The FDA approved drug label for oxycodone cautions that co-medication with CYP3A inhibitors or inducers may lead to altered pharmacokinetics and analgesia, but does not discuss genotype-based recommendations for prescribing.
Genetic variation at the CYP2D6 locus has conflicting evidence regarding altered response of individuals to oxycodone therapy. Thus, the Clinical Pharmacogenetics Implementation Consortium (CPIC) has determined that there is insufficient evidence to recommend alterations to standard clinical use based on CYP2D6 genotype. Similarly, the Dutch Pharmacogenetics Working Group (DPWG) of the Royal Dutch Association for the Advancement of Pharmacy (KNMP) recognizes the drug-gene interaction between CYP2D6 and oxycodone but states that the interaction does not affect analgesia achieved by the medication. The PharmGKB online resource reports that drug labels in Switzerland (regulated by Swissmedic) state that CYP2D6 variation can alter oxycodone response.
Interactions among drugs from polypharmacy may be further enhanced by genetic variation, but there are no professional recommendations to alter prescribing based on drug-drug-gene interactions. Regardless of genotype, oxycodone is contraindicated in individuals with significant respiratory depression, acute or severe bronchial asthma, known or suspect gastrointestinal obstruction, or known hypersensitivity to the medication|Medical Genetics Summaries|N|
CN221254|Serotonin reuptake inhibitor antidepressants, such as selective serotonin reuptake inhibitors (SSRIs), serotonin and norepinephrine reuptake inhibitors (SNRIs), and serotonin modulators with SSRI-like properties are pharmacotherapy options for major depressive and anxiety disorders. Inadequate response and treatment-related adverse events are known challenges in antidepressant therapy. Genetic variations in genes encoding the drug metabolizing enzymes, CYP2D6, CYP2C19 and CYP2B6, have been shown to alter antidepressant biotransformation, which may potentially affect dosing, efficacy, and tolerability.|PharmGKB|N|
CN221255|Serotonin reuptake inhibitor antidepressants, such as selective serotonin reuptake inhibitors (SSRIs), serotonin and norepinephrine reuptake inhibitors (SNRIs), and serotonin modulators with SSRI-like properties are pharmacotherapy options for major depressive and anxiety disorders. Inadequate response and treatment-related adverse events are known challenges in antidepressant therapy. Genetic variations in genes encoding the drug metabolizing enzymes, CYP2D6, CYP2C19 and CYP2B6, have been shown to alter antidepressant biotransformation, which may potentially affect dosing, efficacy, and tolerability.|PharmGKB|N|
CN221257|Imipramine is a tricyclic antidepressant used in the treatment of several psychiatric disorders including major depression, obsessive-compulsive disorder, generalized anxiety disorder, post-traumatic stress disorder, and bulimia. Imipramine may also be useful as an adjunctive treatment in the management of panic attacks, neuropathic pain, attention-deficit disorder, and childhood enuresis (bedwetting). Tricyclic antidepressants (TCAs) primarily mediate their therapeutic effect by inhibiting the reuptake of both serotonin and norepinephrine, leaving more neurotransmitter in the synaptic cleft stimulating the neuron. Because tricyclics can also block different receptors (histamine H1, a1-adrenergic, and muscarinic receptors), side effects are common. As such, more specific selective serotonin reuptake inhibitors (SSRIs) have largely replaced the use of them. However, TCAs still have an important use in specific types of depression and other conditions. Imipramine is primarily metabolized via CYP2C19 to active metabolites, including desipramine, also a tricyclic antidepressant. Further metabolism is catalyzed by CYP2D6. Individuals who are "CYP2D6 ultrarapid metabolizers" carry more than two normal function alleles (i.e., multiple copies), whereas individuals who are "CYP2C19 ultrarapid metabolizers" carry two increased function alleles. Individuals who are CYP2D6 or CYP2C19 "poor metabolizers" carry two no function alleles for CYP2D6 or CYP2C19, respectively. The FDA-approved drug label for imipramine states that CYP2D6 poor metabolizers have higher than expected plasma concentrations of tricyclic antidepressants when given usual doses. Their recommendations include monitoring tricyclic antidepressant plasma levels whenever a tricyclic antidepressant is going to be co-administered with another drug known to be an inhibitor of CYP2D6. In 2016, the Clinical Pharmacogenetics Implementation Consortium (CPIC) made dosing recommendations for tricyclic antidepressants based on CYP2C19 and CYP2D6 genotypes. Amitriptyline and nortriptyline were used as model drugs for this guideline because the majority of pharmacogenomic studies have focused on these two drugs. According to the CPIC guideline, because TCAs have comparable pharmacokinetic properties, it may be reasonable to apply the recommendations to other tricyclics, including imipramine. For CYP2D6 ultrarapid metabolizers, CPIC recommends avoiding the use of a tricyclic due to the potential lack of efficacy, and to consider an alternative drug not metabolized by CYP2D6. If a TCA is still warranted, CPIC recommends considering titrating the TCA to a higher target dose (compared to normal metabolizers) and using therapeutic drug monitoring to guide dose adjustments. For CYP2D6 intermediate metabolizers, CPIC recommends considering a 25% reduction of the starting dose, and for CYP2D6 poor metabolizers, to avoid the use of tricyclics because of the potential for side effects. If a tricyclic is still warranted for CYP2D6 poor metabolizers, CPIC recommends considering a 50% reduction of the starting dose while monitoring drug plasma concentrations to avoid side effects. For CYP2C19 ultrarapid metabolizers, CPIC recommends avoiding the use of tertiary amines (e.g., imipramine) due to the potential for a sub-optimal response, and to consider an alternative drug not metabolized by CYP2C19, such as the secondary amines nortriptyline or desipramine. For CYP2C19 poor metabolizers, CPIC recommends avoiding tertiary amine use due to the potential for sub-optimal response, and to consider an alternative drug not metabolized by CYP2C19. If a tertiary amine is still warranted for CYP2C19 poor metabolizers, CPIC recommends considering a 50% reduction of the starting dose while monitoring drug plasma concentrations to avoid side effects.|Medical Genetics Summaries|N|
CN221263|Serotonin reuptake inhibitor antidepressants, such as selective serotonin reuptake inhibitors (SSRIs), serotonin and norepinephrine reuptake inhibitors (SNRIs), and serotonin modulators with SSRI-like properties are pharmacotherapy options for major depressive and anxiety disorders. Inadequate response and treatment-related adverse events are known challenges in antidepressant therapy. Genetic variations in genes encoding the drug metabolizing enzymes, CYP2D6, CYP2C19 and CYP2B6, have been shown to alter antidepressant biotransformation, which may potentially affect dosing, efficacy, and tolerability.|PharmGKB|N|
CN221264|Serotonin reuptake inhibitor antidepressants, such as selective serotonin reuptake inhibitors (SSRIs), serotonin and norepinephrine reuptake inhibitors (SNRIs), and serotonin modulators with SSRI-like properties are pharmacotherapy options for major depressive and anxiety disorders. Inadequate response and treatment-related adverse events are known challenges in antidepressant therapy. Genetic variations in genes encoding the drug metabolizing enzymes, CYP2D6, CYP2C19 and CYP2B6, have been shown to alter antidepressant biotransformation, which may potentially affect dosing, efficacy, and tolerability.|PharmGKB|N|
CN221265|Serotonin reuptake inhibitor antidepressants, such as selective serotonin reuptake inhibitors (SSRIs), serotonin and norepinephrine reuptake inhibitors (SNRIs), and serotonin modulators with SSRI-like properties are pharmacotherapy options for major depressive and anxiety disorders. Inadequate response and treatment-related adverse events are known challenges in antidepressant therapy. Genetic variations in genes encoding the drug metabolizing enzymes, CYP2D6, CYP2C19 and CYP2B6, have been shown to alter antidepressant biotransformation, which may potentially affect dosing, efficacy, and tolerability.|PharmGKB|N|
CN221588|Dopa-responsive dystonia (DRD) describes a group of neurometabolic disorders characterized by dystonia that typically shows diurnal fluctuations, that responds excellently to levodopa (L-dopa) and that is comprised of autosomal dominant dopa-responsive dystonia (DYT5a), autosomal recessive dopa-responsive dystonia (DYT5b) and dopa responsive dystonia due to sepiapterin reductase (SR) deficiency.|ORDO|N|
CN226701|A rare otorhinolaryngological malformation characterized by narrowing of the pyriform aperture (i. e. < 8 to 10 mm in a full-term infant) due to an overgrowth of the nasal process of the maxilla, resulting in potentially lethal nasal airway obstruction in the newborn. Depending on the degree of obstruction, clinical signs and symptoms include inspiratory stridor, respiratory distress, cyanosis, sternal retraction, ribcage asymmetry, and feeding difficulties.|ORDO|N|
CN226705|A form of cutaneous lupus erythematosus (CLE) that includes five different forms: discoid lupus erythematosus (DLE), chilblain lupus, hypertrophic or verrucous lupus erythematosus, lupus erythematosus tumidus, and lupus erythematosus panniculitis.|ORDO|N|
CN226733|This syndrome is characterized by severe intellectual deficit, kyphosis with onset in childhood and cataract with onset in late adolescence.|ORDO|N|
CN226743|A group of disorders including the most common forms of cutaneous T-cell lymphomas. The term Mycosis fungoides (MF) is restricted to the classical form characterized by the slow progression of patches, plaques and tumors, and to variants with a similar indolent course.|ORDO|N|
CN226954|An instance of secondary polycythemia that is acquired during the lifetime of the individual.|MONDO|N|
CN226972|A rare, hereditary, hematologic disease characterized by an increase in hemoglobin, hematocrit and erythrocyte mass resulting in plethora or ruddy complexion, headache, dizziness, tinnitus and exertional dyspnea. In some cases, thrombophlebitis and arthralgia have also been reported.|ORDO|N|
CN226974|X-linked form of cerebellar ataxia.|MONDO|N|
CN227075|A rare central nervous system malformation characterized by congenital absence of the spinal cord, usually associated with segmental bony spinal anomalies. Neurologic deficits depend on the affected segments and the functioning of the residual spinal cord. Typically, the spinal cord appears normal above the defect and bulky, thickened, and low-lying caudally. Clinical presentation includes varying degrees of motor weakness (associated with deformities of the lower limbs) and neurogenic bladder dysfunction.|ORDO|N|
CN227121|Methylmalonic acidemia is an inborn error of vitamin B12 metabolism characterized by gastrointestinal and neurometabolic manifestations resulting from decreased function of the mitochondrial enzyme methylmalonyl-CoA mutase.|ORDO|N|
CN227746|Chromosomal disorder in which the chromosomal anomaly involves an gonosome. A gonosome is a chromosome responsible for sex determination. In humans and most animals, the sex chromosomes are designated X and Y.|MONDO|N|
CN227855|Aberrant drainage of one or more of the pulmonary veins which causes the return of oxygen-rich blood to the right atrium.|MONDO|N|
CN228426|A syndromic intellectual disability with an X-linked mode of inheritance.|MONDO|N|
CN228621|A congenital myasthenic syndrome with a finding of tubular aggregates in myofibers.|MONDO|N|
CN228925|A craniosynostosis that is not part of a larger syndrome.|MONDO|N|
CN228979|The most common type of non-Hodgkin lymphoma. It includes the most frequently seen morphologic variants which are: diffuse large B-cell lymphoma, follicular lymphoma, small lymphocytic lymphoma and marginal zone B-cell lymphoma. -- 2003|MONDO|N|
CN229158|A rare osteonecrosis characterized by bone necrosis due to disrupted blood supply in the absence of a known cause. Affected bones include the femoral head, talus, vertebral body, humerus, and scaphoid, among others. Patients may initially be asymptomatic but subsequently present with gradually developing refractory pain, swelling, and reduced range of motion. If left untreated, the condition may progress to bone collapse with secondary degeneration, fragmentation, and pathological fracture, as well as osteoarthritis.|ORDO|N|
CN230143|Individuals with collagen VI-related dystrophy often have signs and symptoms of multiple forms of this condition, so it can be difficult to assign a specific diagnosis. The overlap in disease features, in addition to their common cause, is why these once separate conditions are now considered part of the same disease spectrum.\n\nPeople with Ullrich congenital muscular dystrophy have severe muscle weakness beginning soon after birth. Some affected individuals are never able to walk and others can walk only with support. Those who can walk often lose the ability, usually in early adolescence. Individuals with Ullrich congenital muscular dystrophy develop contractures in their shoulders, elbows, hips, and knees, which further impair movement. Many individuals with this form of the condition have loose joints (joint laxity) in the fingers, wrists, toes, ankles, and other joints. Affected individuals need continuous mechanical ventilation to help them breathe while sleeping, and some may need it in the daytime. As in Bethlem muscular dystrophy, some people with Ullrich congenital muscular dystrophy have follicular hyperkeratosis; soft, velvety skin on the palms and soles; and abnormal wound healing.\n\nThe intermediate form of collagen VI-related dystrophy is characterized by muscle weakness that begins in infancy. Affected children are able to walk, although walking becomes increasingly difficult starting in early adulthood. They develop contractures in their fingers, elbows, shoulders, and ankles  in childhood. In some affected people, the respiratory muscles are weakened, requiring people to use a machine to help them breathe (mechanical ventilation), particularly during sleep.\n\nPeople with Bethlem muscular dystrophy usually have low muscle tone (hypotonia) in infancy. Muscle weakness can begin at any age but often appears in childhood to early adulthood. The muscle weakness is slowly progressive, with about two-thirds of affected individuals over age 50 needing walking assistance, particularly when outdoors. Affected individuals usually develop contractures by adulthood, typically in their fingers, elbows, shoulders, and ankles. Older individuals may develop weakness in respiratory muscles, which can cause breathing problems. Some people with this mild form of collagen VI-related dystrophy have skin abnormalities, including small bumps called follicular hyperkeratosis on the arms and legs; soft, velvety skin on the palms of the hands and soles of the feet; and abnormal wound healing that creates shallow scars.\n\nCollagen VI-related dystrophy is a group of disorders that affect skeletal muscles (which are the muscles used for movement) and connective tissue (which provides strength and flexibility to the skin, joints, and other structures throughout the body). Most affected individuals have muscle weakness and joint deformities called contractures that restrict movement of the affected joints and worsen over time. Researchers have described several forms of collagen VI-related dystrophy, which range in severity: Bethlem muscular dystrophy is the mildest, an intermediate form is moderate in severity, and Ullrich congenital muscular dystrophy is the most severe.|MedlinePlus Genetics|N|
CN230159|Several other features may occur in people with Leigh syndrome. Many individuals with this condition develop weakness or paralysis of the muscles that move the eyes (ophthalmoparesis); rapid, involuntary eye movements (nystagmus); or degeneration of the nerves that carry information from the eyes to the brain (optic atrophy). Severe breathing problems are common, and these problems can worsen until they cause acute respiratory failure. Some affected individuals develop hypertrophic cardiomyopathy, which is a thickening of the heart muscle that forces the heart to work harder to pump blood. In addition, a substance called lactate can build up in the body, and excessive amounts are often found in the blood, urine, or the fluid that surrounds and protects the brain and spinal cord (cerebrospinal fluid) of people with Leigh syndrome.\n\nThe signs and symptoms of Leigh syndrome are caused in part by patches of damaged tissue (lesions) that develop in the brains of people with this condition. A medical procedure called magnetic resonance imaging (MRI) reveals characteristic lesions in certain regions of the brain. These regions include the basal ganglia, which help control movement; the cerebellum, which controls the ability to balance and coordinates movement; and the brainstem, which connects the brain to the spinal cord and controls functions such as swallowing and breathing. The brain lesions are often accompanied by loss of the myelin coating around nerves (demyelination), which reduces the ability of the nerves to activate muscles used for movement or relay sensory information from the rest of the body back to the brain.\n\nThe first signs of Leigh syndrome seen in infancy are usually vomiting, diarrhea, and difficulty swallowing (dysphagia), which disrupts eating. These problems often result in an inability to grow and gain weight at the expected rate (failure to thrive). Severe muscle and movement problems are common in Leigh syndrome. Affected individuals may develop weak muscle tone (hypotonia), involuntary muscle contractions (dystonia), and problems with movement and balance (ataxia). Loss of sensation and weakness in the limbs (peripheral neuropathy), common in people with Leigh syndrome, may also make movement difficult.\n\nLeigh syndrome is a severe neurological disorder that usually becomes apparent in the first year of life. This condition is characterized by progressive loss of mental and movement abilities (psychomotor regression) and typically results in death within two to three years, usually due to respiratory failure. A small number of individuals do not develop symptoms until adulthood or have symptoms that worsen more slowly.|MedlinePlus Genetics|N|
CN230454|A genetic cardiac rhythm disease that may progress to complete atrioventricular (AV) block. The disease is either asymptomatic or manifests as dyspnea, dizziness, syncope, abdominal pain, heart failure or sudden death.|ORDO|N|
CN231318|Myoclonic-atonic epilepsy (MAE) is an autosomal dominant disorder characterized by onset of absence and myoclonic seizures in early childhood. Patients have delayed development before the onset of seizures and show varying degrees of impaired intellectual development following seizure onset (summary by Carvill et al., 2015).|OMIM|N|
CN233145|Pertuzumab is a monoclonal antibody used in the treatment of breast cancer. Pertuzumab was designed to target an epidermal growth factor receptor encoded by the ERBB2 gene, commonly referred to as the HER2 gene.
The ERBB2 gene is overexpressed in 15–20% of breast cancers and is also overexpressed in some cases of other cancer types (gastric, colon, head, and neck). Historically, “HER2-positive” tumors are associated with a faster rate of growth and a poorer prognosis than other breast cancer subtypes. The use of pertuzumab in treatment regimens improves outcomes, with limited adverse effects that include cardiac toxicity.
Pertuzumab is used with other drugs as an advanced breast cancer treatment, a neoadjuvant treatment, and an adjuvant treatment for HER2-positive breast cancer. In the advanced/metastatic setting, pertuzumab added to trastuzumab and a taxane is used to increase long-term progression-free and overall survival when administered in the first line setting. As neoadjuvant treatment, pertuzumab is given with trastuzumab and chemotherapy before surgery in individuals with early breast cancer to increase pathologic complete response rates. And as an adjuvant treatment, pertuzumab is given with trastuzumab and chemotherapy to reduce the risk of cancer reoccurrence in individuals with early breast cancer.
The 2020 FDA-approved drug label states that pertuzumab should only be used to treat individuals with tumors that have either HER2 protein overexpression or ERBB2 gene amplification, as determined by an accurate and validated FDA-approved assay. This is because these are the only individuals studied for whom benefit has been shown.
The most recent update (2018) American Society of Clinical Oncology (ASCO) / College of American Pathologists (CAP) guidelines continue to state that all newly diagnosed individuals with breast cancer must have an HER2 test performed. Individuals who then develop metastatic disease must have an HER2 test performed in a metastatic site, if a tissue sample is available.|Medical Genetics Summaries|N|
CN236396|NOTE: ARCHIVED ON 15 JULY 2020 BECAUSE SIMEPREVIR IS NO LONGER LICENSED FOR USE IN THE USA. THIS SUMMARY IS FOR HISTORIAL REFERENCE ONLY AND WILL NOT BE UPDATED.
Simeprevir is a hepatitis C virus (HCV) protease inhibitor used in combination with other drugs to treat chronic hepatitis genotype 1 or 4 infection. Previously, the standard care of patients with HCV infection was peginterferon alfa and ribavirin, but ~40-50% of patients with HCV genotype 1 infection had a suboptimal sustained virological response (SVR). A SVR is defined as undetectable HCV RNA by the end of treatment and at a specific number of weeks after the end of treatment. The addition of simeprevir increased the SVR in patients with HCV genotype 1 infection who were previously untreated. However, there were reports of treatment failure, most commonly in adults, who failed to respond to previous peginterferon and ribavirin treatment. The FDA-approved drug label for simeprevir contains information regarding a genetic variant near the IFNL3 gene (a C to T change; rs12979860), which is a strong predictor of response to peginterferon alfa and ribavirin treatment. The label states that in phase 3 clinical trials, SVR rates were lower in patients with CT and TT genotypes, compared to patients with the CC genotype. However, patients of all IFNL3 genotypes had highest SVR rates when being treated with regimens that included simeprevir. In addition, the label strongly recommends patients with HCV genotype 1a infection should be screened for the presence of virus with the S3 Q80K polymorphism. If Q80K is detected, the label strongly recommends that alternative therapy be considered.|Medical Genetics Summaries|N|
CN236409|Isolated trigonocephaly is a nonsyndromic form of craniosynostosis characterized by the premature fusion of the metopic suture.|ORDO|N|
CN237691|A rare genetic immune disease characterized by infantile or childhood onset of combined immunodeficiency with recurrent viral, bacterial, and fungal infections, severe autoimmunity mainly manifesting as antibody-mediated destruction of red blood cells, platelets, and neutrophils, and mild to moderate developmental delay. Laboratory findings include decreased circulating T-, B-, and natural killer cells, and hypergammaglobulinemia.|ORDO|N|
CN237712|A rare acquired skeletal muscle disease characterized by severe weakness of the neck extensor muscles causing progressive reducible kyphosis of the cervical spine and the inability to hold the head up, in the absence of a known cause. Histological studies reveal a non-inflammatory myopathic picture. The clinical course is relatively benign, although cervical myelopathy may develop.|ORDO|N|
CN238504|A disease that has its basis in the disruption of complement activation, lectin pathway.|MONDO|N|
CN238505|Female infertility often results from problems connected to producing eggs. Oocyte maturation is a complex process that includes meiotic division and recombination, nuclear maturation, and epigenetic modification. Each stage of this process is regulated by a large network of genes. Pathogenic variants in these genes can result in the recurrent failures of in vitro fertilization (IVF)/intracytoplasmic sperm injection (ICSI) programs due to a poor response to ovarian stimulation, oocyte maturation arrest, poor quality of gametes, fertilization failure, or early embryonic development arrest (Solovova and Chernykh, 2022).
The zona pellucida (ZP) is a glycoprotein matrix that surrounds oocytes and has an average thickness of 17 micrometers. It is vital for the production of oocytes in early development, for fertilization, and for protection of early embryos before implantation. Absence of the zona pellucida in OOMD1 results in sterility (summary by Huang et al., 2014).
Reviews
Solovova and Chernykh (2022) reviewed the genetics of oocyte maturation defects and early embryo development arrest.
Genetic Heterogeneity of Oocyte/Zygote/Embryo Maturation Arrest
Also see OZEMA2 (616780), caused by mutation in the TUBB8 gene (616768) on chromosome 10p15; OZEMA3 (617712), caused by mutation in the ZP3 gene (182889) on chromosome 7q11; OZEMA4 (617743), caused by mutation in the PATL2 gene (614661) on chromosome 15q21; OZEMA5 (617996), caused by mutation in the WEE2 gene (614084) on chromosome 7q34; OZEMA6 (618353), caused by mutation in the ZP2 gene (182888) on chromosome 16p12; OZEMA7 (618550), caused by mutation in the PANX1 gene (608420) on chromosome 11q21; OZEMA8 (619009), caused by mutation in the BTG4 gene (605673) on chromosome 11q23; OZEMA9 (619011), caused by mutation in the TRIP13 gene (604507) on chromosome 5p15; OZEMA10 (619176), caused by mutation in the REC114 gene (618421) on chromosome 15q24; OZEMA11 (619643), caused by mutation in the ASTL gene (608860) on chromosome 2q11; OZEMA12 (619697), caused by mutation in the FBXO43 gene (609110) on chromosome 8q22; OZEMA13 (620154), caused by mutation in the ZFP36L2 gene (612053) on chromosome 2p21; OZEMA14 (620276), caused by mutation in the CDC20 gene (603618) on chromosome 1p34; OZEMA15 (616814), caused by mutation in the TLE6 gene (612399) on chromosome 19p13; OZEMA16 (617234), caused by mutation in the PADI6 gene (610363) on chromosome 1p36; OZEMA17 (620319), caused by mutation in the KPNA7 gene (614107) on chromosome 7q22; OZEMA18 (620332), caused by mutation in the NLRP2 gene (609364) on chromosome 19q13; OZEMA19 (620333), caused by mutation in the NLRP5 gene (609658) on chromosome 19q13; OZEMA20 (620383), caused by mutation in the MOS gene (190060) on chromosome 8q12; and OZEMA21 (620610), caused by mutation in the CHEK1 gene (603078) on chromosome 11q24.|OMIM|N|
CN238522|Sofosbuvir is an antiviral agent used in the treatment of chronic hepatitis C virus (HCV) infection. Sofosbuvir is FDA-approved to treat patients infected with HCV genotypes 1, 2, 3, and 4, as part of a combination antiviral treatment regimen. HCV genotype 1 is the most prevalent worldwide and HCV genotype 3 is the next most prevalent. Sofosbuvir may also be used as part of the treatment regimen of HCV genotypes 5 or 6. About 180 million people worldwide are infected with chronic hepatitis C, which is a major cause of chronic liver disease, cirrhosis, and liver cancer. Viral eradication is suboptimal with peginterferon plus ribavirin-based therapy, with only about half of patients with HCV genotype 1 infection achieving a sustained virological response (SVR) after 24 weeks. A SVR is defined as undetectable HCV RNA by the end of treatment or at a specific number of weeks after the initiation of treatment, e.g., undetectable HCV RNA at 12 weeks is annotated (SVR12). Direct-acting antivirals (DAAs), such as sofosbuvir, were developed to improve viral eradication rates. They target HCV-encoded proteins involved in viral replication and infection. Sofosbuvir, the first and thus far only DAA, targets NS5B polymerase, the viral enzyme required for HCV RNA replication. Sofosbuvir may be used in combination with peginterferon. The genetic variant rs12979860, located in the INFL4 gene, is a strong predictor of response to peginterferon-based therapies. The variant is a C to T change—individuals with the favorable "C/C" genotype have about a 2-fold higher likelihood of achieving SVR compared to individuals with CT or TT genotypes. (Note, because the association of rs12979860 with treatment response was reported several years before the discovery of IFNL4, the variant is commonly, but mistakenly, referred to as IL28B, which is the previous name for the IFNL3 gene.) For specific treatment regimens that include sofosbuvir, although the IFNL4 variant still influences treatment outcomes, the SVR remains relatively high for all IFNL4 genotypes. For example in the NEUTRINO study, which is referred to in the FDA-approved drug label for sofosbuvir, the SVR12 rate was 99% in individuals with baseline C/C alleles and 87% in individuals with baseline non-C/C alleles. The individuals in this study had HCV genotype 1 or 4 infection, and were receiving sofosbuvir plus peginterferon plus ribavirin therapy. The drug label for sofosbuvir also discusses viral resistance. In cell culture, the amino acid substitution S282T in the viral NS5B polymerase is associated with reduced susceptibility to sofosbuvir. During the ELECTRON trial, this substitution was transiently detected in one individual who relapsed during sofosbuvir monotherapy. However, the clinical significance of such substitutions remains unknown.|Medical Genetics Summaries|N|
CN239061|Prasugrel is a third-generation thienopyridine platelet inhibitor used in the management of patients with acute coronary syndrome (ACS) undergoing percutaneous coronary intervention (PCI). Prasugrel is used to reduce thrombotic cardiovascular events, such as stent thrombosis, myocardial infarction, and stroke in these patients. Prasugrel, along with other antiplatelet agents such as clopidogrel and ticagrelor, inhibits platelet activation by irreversibly binding to the platelet receptor, P2RY12. Prasugrel is metabolized to its active metabolite primarily by CYP3A5 and CYP2B6, and to a lesser extent by CYP2C9 and CYP2C19. The FDA-approved label for prasugrel states that genetic variations in CYP2B6, CYP2C9, CYP2C19, or CYP3A5 genes do not have a relevant effect on prasugrel pharmacokinetics and the generation of its active metabolite or its inhibition of platelet aggregation in healthy subjects, patients with stable atherosclerosis, or ACS. Another commonly prescribed antiplatelet is the second-generation thienopyridine clopidogrel, which is bioactivated primarily by CYP2C19. Consequently, clopidogrel is less effective among patients with decreased or no function variant alleles in the CYP2C19 gene. In contrast, CYP2C19 variants are not associated with a decrease in effectiveness of prasugrel, which is a more potent antiplatelet agent than clopidogrel, but has a higher risk of bleeding.|Medical Genetics Summaries|N|
CN239220|Bartter syndrome is a group of very similar kidney disorders that cause an imbalance of potassium, sodium, chloride, and related molecules in the body.\n\nTwo major forms of Bartter syndrome are distinguished by their age of onset and severity. One form begins before birth (antenatal) and is often life-threatening. The other form, often called the classical form, begins in early childhood and tends to be less severe. Once the genetic causes of Bartter syndrome were identified, researchers also split the disorder into different types based on the genes involved. Types I, II, and IV have the features of antenatal Bartter syndrome. Because type IV is also associated with hearing loss, it is sometimes called antenatal Bartter syndrome with sensorineural deafness. Type III usually has the features of classical Bartter syndrome.\n\nIn some cases, Bartter syndrome becomes apparent before birth. The disorder can cause polyhydramnios, which is an increased volume of fluid surrounding the fetus (amniotic fluid). Polyhydramnios increases the risk of premature birth.\n\nBeginning in infancy, affected individuals often fail to grow and gain weight at the expected rate (failure to thrive). They lose excess amounts of salt (sodium chloride) in their urine, which leads to dehydration, constipation, and increased urine production (polyuria). In addition, large amounts of calcium are lost through the urine (hypercalciuria), which can cause weakening of the bones (osteopenia). Some of the calcium is deposited in the kidneys as they are concentrating urine, leading to hardening of the kidney tissue (nephrocalcinosis). Bartter syndrome is also characterized by low levels of potassium in the blood (hypokalemia), which can result in muscle weakness, cramping, and fatigue. Rarely, affected children develop hearing loss caused by abnormalities in the inner ear (sensorineural deafness).|MedlinePlus Genetics|N|
CN239241|A group of rare arthrogryposis syndromes characterized by fetal akinesia, multiple congenital contractures, anterior horn cell degeneration, skeletal muscle atrophy, and other features, depending on the subtype. All types are lethal in the fetal or neonatal period.|ORDO|N|
CN239367|A rare, congenital, bone development disorder characterized by a spectrum of terminal limb malformations including hypoplasia/absence of central rays of the hands and feet (that can occur in one to all four digits), variable degrees of median clefts of the hands and/or feet, aplasia and syndactyly, with a wide range of severity ranging from malformed central finger/toe to a lobster claw-like appearance of the hands and feet. It can occur as an isolated malformation or it can be a feature in various syndromes.|ORDO|N|
CN239493|Frontotemporal dementia (FTD) and/or amyotrophic lateral sclerosis (ALS) is an autosomal dominant neurodegenerative disorder characterized by adult onset of one or both of these features in an affected individual, with significant intrafamilial variation. The disorder is genetically and pathologically heterogeneous (summary by Vance et al., 2006). Patients with C9ORF72 repeat expansions tend to show a lower age of onset, shorter survival, bulbar symptom onset, increased incidence of neurodegenerative disease in relatives, and a propensity toward psychosis or hallucinations compared to patients with other forms of ALS and/or FTD (summary by Harms et al., 2013). Patients with C9ORF72 repeat expansions also show psychiatric disturbances that may predate the onset of dementia (Meisler et al., 2013; Gomez-Tortosa et al., 2013).
Ranganathan et al. (2020) provided a detailed review of the genes involved in different forms of FTDALS, noting that common disease pathways involve disturbances in RNA processing, autophagy, the ubiquitin proteasome system, the unfolded protein response, and intracellular trafficking. The current understanding of ALS and FTD is that some forms of these disorders represent a spectrum of disease with converging mechanisms of neurodegeneration.
For a general phenotypic description of frontotemporal dementia, also known as frontotemporal lobar degeneration (FTLD), see 600274. For a general discussion of motor neuron disease (MND), see amyotrophic lateral sclerosis-1 (ALS1; 105400).
Genetic Heterogeneity of Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis
See also FTDALS2 (615911), caused by mutation in the CHCHD10 gene (615903) on chromosome 22q11; FTDALS3 (616437), caused by mutation in the SQSTM1 gene (601530) on chromosome 5q35; FTDALS4 (616439), caused by mutation in the TBK1 gene (604834) on chromosome 12q14; FTDALS5 (619141), caused by mutation in the CCNF gene (600227) on chromosome 16p13; FTDALS6 (613954), caused by mutation in the VCP gene (601023) on chromosome 9p13; FTDALS7 (600795), caused by mutation in the CHMP2B gene (609512) on chromosome 3p11; and FTDALS8 (619132), caused by mutation in the CYLD gene (605018) on chromosome 16q12.|OMIM|N|
CN239577|Vemurafenib is a kinase inhibitor used in the treatment of patients with unresectable or metastatic melanoma with the BRAF V600E variant. BRAF is an intracellular kinase in the mitogen-activated protein kinases (MAPK) pathway. BRAF is involved in regulating important cell functions such as cell growth, division, differentiation, and apoptosis. BRAF is also a proto-oncogene—when mutated it has the ability to transform normal cells into cancerous cells. Variation in the kinase domain of BRAF have been associated with various cancers. The most common BRAF variant, V600E, constitutively activates the kinase, and causes cell proliferation in the absence of growth factors that would normally be required. The V600E variant is detected in approximately 50% of melanomas. The FDA-approved drug label for vemurafenib states that the presence of BRAF V600E mutation in tumor specimens should be confirmed, using an FDA-approved test, before starting treatment with vemurafenib. The label also states that vemurafenib is not indicated for treatment of patients with wild-type BRAF melanoma. Variations in NRAS, also an oncogene, are found in up to 30% of all malignancies and in approximately 15-20% of melanomas. NRAS variants activate MAPK and have been implicated in in acquired resistance to BRAF inhibitors. Vemurafenib’s label warns that one adverse effect associated with therapy may be the progression of pre-existing chronic myelomonocytic leukemia with NRAS mutation. Other adverse effects include arthralgia, rash, alopecia, photosensitivity reaction, pruritus, and skin papilloma.|Medical Genetics Summaries|N|
CN239586|Dabrafenib is a kinase inhibitor used in the treatment of individuals with unresectable or metastatic melanoma, metastatic non-small cell lung cancer (NSCLC), locally advanced or metastatic anaplastic thyroid cancer (ATC), pediatric low-grade glioma (LGG), and other unresectable or metastatic solid tumors with specific BRAF variants. Dabrafenib can be used as a single agent to treat melanoma with the BRAF valine 600 to glutamic acid (V600E) variant or in combination with the MEK inhibitor trametinib to treat multiple tumor types with BRAF V600E or V600K variants.The BRAF protein is an intracellular kinase in the mitogen-activated protein kinases (MAPK) pathway. Functionally, BRAF regulates essential cell processes such as cell growth, division, differentiation, and apoptosis. The gene BRAF is also a proto-oncogene—when mutated, it transforms normal cells into cancerous cells. Variation in the kinase domain of BRAF is associated with various cancers. The most common BRAF variant, V600E, constitutively activates the kinase and causes cell proliferation in the absence of growth factors that would usually be needed. The V600E variant is detected in approximately 50% of melanomas, 25% of ATC, 2% of NSCLC, and 20% of pediatric LGGs. The FDA-approved label for dabrafenib states that the presence of BRAF mutation in tumor specimens (V600E for dabrafenib monotherapy; V600E or V600K for dabrafenib plus trametinib) should be confirmed using an FDA-approved test before starting treatment with dabrafenib. Dabrafenib is not indicated for the treatment of individuals with wild-type BRAF tumors, or the treatment of colorectal cancer due to intrinsic resistance to BRAF inhibitor monotherapy. The label also states that individuals with glucose-6-phosphate dehydrogenase (G6PD) deficiency should be monitored for signs of hemolytic anemia while taking dabrafenib (1). However, it is important to note that an independent literature review by the Clinical Pharmacogenetics Implementation Consortium found no publications to support or refute this risk and thus issued no guidance for G6PD deficiency and dabrafenib therapy.|Medical Genetics Summaries|N|
CN240376|In most people with childhood absence epilepsy, the absence seizures disappear in adolescence. However, some affected individuals continue to have absence seizures into adulthood, or they may develop generalized tonic-clonic seizures, which cause muscle rigidity, convulsions, and loss of consciousness, or myoclonic seizures, which are characterized by rapid, uncontrolled muscle jerks.\n\nChildhood absence epilepsy is a condition characterized by recurrent seizures (epilepsy). This condition begins in childhood, usually between ages 3 and 8. Affected children have absence seizures (also known as petit mal seizures), which are brief episodes of impaired consciousness that look like staring spells. During seizures, children are not aware of and do not respond to people or activities around them. The seizures usually last several seconds and they occur often, up to 200 times each day.\n\nSome affected individuals have febrile seizures before they develop childhood absence epilepsy. Febrile seizures are involuntary muscle contractions (convulsions) brought on by a high body temperature (fever).|MedlinePlus Genetics|N|
CN241427|A neoplasm arising from the pineocyte, a cell with photosensory and neuroendocrine functions. It may be composed of mature elements or primitive, immature cells. The cellular composition determines the biological behavior and clinical outcome. Three types are recognized: pineoblastoma, pineocytoma, and pineal parenchymal tumor of intermediate differentiation (Adapted from WHO.)|MONDO|N|
CN242095|A rare, non-syndromic visceral malformation characterized by an abnormal, continuous or discontinuous attachment of the spleen to the gonad, epididymis or vas. Continuous type has a direct connection between spleen and the gonad, whereas discontinuous type indicates gonadal tissue fused with an accessory spleen or ectopic spleen tissue without connection to the principal spleen. Males typically present with a scrotal mass or as an incidental finding during the management of cryptorchidism, testicular tumors or inguinal hernia. In females this is usually an incidental finding during laparotomy.|ORDO|N|
CN242146|Systemic polyarteritis nodosa (PAN; see this term) is a chronic systemic necrotizingvasculitis of adults and childrenaffecting small- and medium-sized vessels and characterized by formation of microaneurysms leading to serious generalized disease and multi-organ involvement.|ORDO|N|
CN244035|Disorders in which there is a delay in development based on that expected for a given age level or stage of development. These impairments or disabilities originate before age 18, may be expected to continue indefinitely, and constitute a substantial impairment. Biological and nonbiological factors are involved in these disorders. (From American Psychiatric Glossary, 6th ed)|MONDO|N|
CN248784|Lesinurad (brand name Zurampic) is a urate transport inhibitor used in the treatment of gout. Gout is one of the most common types of inflammatory arthritis, affecting approximately 3% of adults worldwide. It is caused by the accumulation of urate crystals in joints. The long-term management of gout includes reducing risk factors (e.g., obesity, alcohol use, diuretic use, poor renal function), and medication to lower uric acid levels. Lesinurad reduces the high level of uric acid (hyperuricemia) associated with gout. Lesinurad should only be used in combination with a xanthine oxidase inhibitor (e.g., allopurinol, febuxostat) –– the risk of acute renal failure is increased if lesinurad is used alone. The addition of lesinurad to gout treatment is reserved for patients who have failed to achieve their target uric acid level despite being treated with a xanthine oxidase inhibitor. Xanthine oxidase inhibitors reduce uric acid by inhibiting its production, whereas lesinurad reduces uric acid by blocking its reabsorption in the kidney. Lesinurad is primarily metabolized by CYP2C9 to several inactive metabolites. Individuals who lack CYP2C9 activity ("CYP2C9 poor metabolizers") have an increased exposure to lesinurad, and an increased risk of side effects. Adverse reactions of lesinurad therapy include kidney stones and other kidney problems. Lesinurad is also associated with an increased risk of cardiovascular events. The FDA-approved drug label for lesinurad states that lesinurad should be used with caution in CYP2C9 poor metabolizers, but does not provide specific dose adjustments in this group. The standard dose of lesinurad is 200 mg daily. Lesinurad is contraindicated in patients with severe impairment of kidney function (e.g., kidney transplant and hemodialysis patients) as well as individuals with tumor lysis syndrome or Lesch-Nyhan syndrome.|Medical Genetics Summaries|N|
CN257533|Isolated complex I deficiency is the most common enzymatic defect of the oxidative phosphorylation disorders (McFarland et al., 2004; Kirby et al., 2004). It causes a wide range of clinical disorders, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, nonspecific encephalopathy, hypertrophic cardiomyopathy, myopathy, liver disease, Leigh syndrome (see 256000), Leber hereditary optic neuropathy (535000), and some forms of Parkinson disease (see 556500) (Loeffen et al., 2000; Pitkanen et al., 1996; Robinson, 1998).
Genetic Heterogeneity of Complex I Deficiency
Mitochondrial complex I deficiency shows extreme genetic heterogeneity and can be caused by mutation in nuclear-encoded genes or in mitochondrial-encoded genes. There are no obvious genotype-phenotype correlations, and inference of the underlying basis from the clinical or biochemical presentation is difficult, if not impossible (summary by Haack et al., 2012). However, the majority of cases are caused by mutations in nuclear-encoded genes (Loeffen et al., 2000; Triepels et al., 2001).
Complex I deficiency resulting from mutation in nuclear-encoded genes include MC1DN1, caused by mutation in the NDUFS4 gene (602694); MC1DN2 (618222), caused by mutation in the NDUFS8 gene (602141); MC1DN3 (618224), caused by mutation in the NDUFS7 gene (601825); MC1DN4 (618225), caused by mutation in the NDUFV1 gene (161015); MC1DN5 (618226), caused by mutation in the NDUFS1 gene (157655); MC1DN6 (618228), caused by mutation in the NDUFS2 gene (602985); MC1DN7 (618229), caused by mutation in the NDUFV2 gene (600532); MC1DN8 (618230), caused by mutation in the NDUFS3 gene (603846); MC1DN9 (618232), caused by mutation in the NDUFS6 gene (603848); MC1DN10 (618233), caused by mutation in the NDUFAF2 gene (609653); MC1DN11 (618234), caused by mutation in the NDUFAF1 gene (606934); MC1DN12 (301020), caused by mutation in the NDUFA1 gene (300078); MC1DN13 (618235), caused by mutation in the NDUFA2 gene (602137); MC1DN14 (618236), caused by mutation in the NDUFA11 gene (612638); MC1DN15 (618237), caused by mutation in the NDUFAF4 gene (611776); MC1DN16 (618238), caused by mutation in the NDUFAF5 gene (612360); MC1DN17 (618239), caused by mutation in the NDUFAF6 gene (612392); MC1DN18 (618240), caused by mutation in the NDUFAF3 gene (612911); MC1DN19 (618241), caused by mutation in the FOXRED1 gene (613622); MC1DN20 (611126), caused by mutation in the ACAD9 gene (611103); MC1DN21 (618242), caused by mutation in the NUBPL gene (613621); MC1DN22 (618243), caused by mutation in the NDUFA10 gene (603835); MC1DN23 (618244), caused by mutation in the NDUFA12 gene (614530); MC1DN24 (618245), caused by mutation in the NDUFB9 gene (601445); MC1DN25 (618246), caused by mutation in the NDUFB3 gene (603839); MC1DN26 (618247), caused by mutation in the NDUFA9 gene (603834); MC1DN27 (618248), caused by mutation in the MTFMT gene (611766); MC1DN28 (618249), caused by mutation in the NDUFA13 gene (609435); MC1DN29 (618250), caused by mutation in the TMEM126B gene (615533); MC1DN30 (301021), caused by mutation in the NDUFB11 gene (300403); MC1DN31 (618251), caused by mutation in the TIMMDC1 gene (615534); MC1DN32 (618252), caused by mutation in the NDUFB8 gene (602140); MC1DN33 (618253), caused by mutation in the NDUFA6 gene (602138); MC1DN34 (618776), caused by mutation in the NDUFAF8 gene (618461); MC1DN35 (619003), caused by mutation in the NDUFB10 gene (603843); MC1DN36 (619170), caused by mutation in the NDUFC2 gene (603845); MC1DN37 (619272), caused by mutation in the NDUFA8 gene (603359); MC1DN38 (619382), caused by mutation in the DNAJC30 gene (618202); and MC1DN39 (620135), caused by mutation in the NDUFB7 gene (603842).
Complex I deficiency with mitochondrial inheritance has been associated with mutation in 6 mitochondrial-encoded components of complex I: MTND1 (516000), MTND2 (516001), MTND3 (516002), MTND4 (516003), MTND5 (516005), MTND6 (516006). Most of these patients have a phenotype of Leber hereditary optic neuropathy (LHON; 535000) or Leigh syndrome. Features of complex I deficiency may also be caused by mutation in other mitochondrial genes, including MTTS2 (590085).|OMIM|N|
CN257762|Primary progressive apraxia of speech is a rare neurodegenerative disease characterized by impaired planning or programming of the movements for speech, leading to phonetically and prosodically abnormal speech, in absence, at onset, of any other neurological features (such as aphasia, memory loss, pyramidal signs). Patients usually present articulatory distortions/groping, slow rate, distorted sound substitutions and/or trial and error articulatory movements which begin insiduously and worsen over time.|ORDO|N|
CN257931|A severe combined immunodeficiency that is the result of a mutation on Chromosome 6 RAG2 gene involving genetic rearrangement of both the T- and B-lymphocyte receptor genes.|MONDO|N|
CN258139|Nonsteroidal Anti-inflammatory Drugs (NSAIDs) are among the most commonly prescribed drugs to treat pain, fever and inflammation. The main therapeutic effect of NSAIDs occurs via blocking the production of prostaglandin that cause inflammation. Hepatic metabolism by cytochrome P450 isoforms CYP2C9, 1A2, and 3A4, and renal excretion are the principal routes of clearance of the majority of NSAIDs.  Genetic variants in CYP2C9 (e.g., CYP2C9*2 and *3), along with other genetics and clinical factors, have been shown to affect systemic plasma concentrations of NSAIDs and potentially safety. Patients with CYP2C9 decreased or no function alleles may have elevated exposure and at increased risk for adverse effects. Guidelines regarding the use of pharmacogenomic tests in dosing for NSAIDs have been published in Clinical Pharmacology and Therapeutics by the Clinical Pharmacogenetics Implementation Consortium (CPIC) and are available on the CPIC and PharmGKB websites. The CPIC guideline provides specific therapeutic recommendations for a number of NSAIDs (celecoxib, flurbiprofen, ibuprofen, lornoxicam, meloxicam, piroxicam and tenoxicam) based on CYP2C9 genotype.|PharmGKB|N|
CN258188|Nonsteroidal Anti-inflammatory Drugs (NSAIDs) are among the most commonly prescribed drugs to treat pain, fever and inflammation. The main therapeutic effect of NSAIDs occurs via blocking the production of prostaglandin that cause inflammation. Hepatic metabolism by cytochrome P450 isoforms CYP2C9, 1A2, and 3A4, and renal excretion are the principal routes of clearance of the majority of NSAIDs.  Genetic variants in CYP2C9 (e.g., CYP2C9*2 and *3), along with other genetics and clinical factors, have been shown to affect systemic plasma concentrations of NSAIDs and potentially safety. Patients with CYP2C9 decreased or no function alleles may have elevated exposure and at increased risk for adverse effects. Guidelines regarding the use of pharmacogenomic tests in dosing for NSAIDs have been published in Clinical Pharmacology and Therapeutics by the Clinical Pharmacogenetics Implementation Consortium (CPIC) and are available on the CPIC and PharmGKB websites. The CPIC guideline provides specific therapeutic recommendations for a number of NSAIDs (celecoxib, flurbiprofen, ibuprofen, lornoxicam, meloxicam, piroxicam and tenoxicam) based on CYP2C9 genotype.|PharmGKB|N|
CN258189|Deutetrabenazine (brand name Austedo) is used to treat chorea associated with Huntington disease (HD) and tardive dyskinesia (TD). Both HD and TD are types of involuntary movement disorders. The recommended starting dose is 6 mg once daily for individuals with HD and 12 mg per day (6 mg twice daily) for individuals with TD. The maximum recommended daily dosage for both conditions is 48 mg (24 mg, twice daily). The active metabolites of deutetrabenazine are reversible inhibitors of vesicular monoamine transporter 2 (VMAT2). The VMAT2 protein transports the uptake of monoamines, such as dopamine, into the nerve terminal. The inhibition of VMAT2 leads to a depletion of pre-synaptic dopamine and reduces the amount of dopamine realized when that neuron fires. This is thought to lead to fewer abnormal, involuntary movements. The CYP2D6 enzyme converts the active metabolites of deutetrabenazine to minor, reduced activity metabolites. Individuals who have no CYP2D6 activity (“CYP2D6 poor metabolizers”) are likely to have a 3- to 4-fold increased exposure to active metabolites, compared with normal metabolizers, following the recommended standard doses of deutetrabenazine. The 2018 FDA-approved drug label for deutetrabenazine states that the daily dose of deutetrabenazine should not exceed 36 mg (maximum single dose of 18 mg) for individuals who are CYP2D6 poor metabolizers or concurrently taking a strong CYP2D6 inhibitor (e.g., quinidine, antidepressants such as paroxetine, fluoxetine, and bupropion). In addition, the drug label cautions that tetrabenazine, a closely related VMAT2 inhibitor, causes QT prolongation. Therefore, a clinically relevant QT prolongation may occur in some individuals treated with deutetrabenazine who are CYP2D6 poor metabolizers or are co-administered a strong CYP2D6 inhibitor.|Medical Genetics Summaries|N|
CN258190|Dronabinol is the main psychoactive component in marijuana. Dronabinol is used in the treatment of chemotherapy-induced nausea and vomiting (CINV) among individuals who have not responded to conventional antiemetic therapy, and to treat anorexia associated with weight loss in individuals with acquired immunodeficiency syndrome (AIDS). Dronabinol is primarily metabolized by CYP2C9, which is responsible for the formation of the major active metabolite (11-hydroxy-delta-9-THC). Individuals who lack CYP2C9 activity (“CYP2C9 poor metabolizers”) have an increased exposure to dronabinol and an increased risk of side effects. Adverse events associated with dronabinol therapy include sedation, physical weakness, facial flushing, and palpitations.nThe FDA-approved drug label for dronabinol recommends monitoring for the increased adverse reactions that could potentially occur in individuals who are known to have genetic variants associated with diminished CYP2C9 function. The label states that published data indicates these individuals may have a 2- to 3-fold higher exposure to dronabinol.|Medical Genetics Summaries|N|
CN258628|A rare genetic neurodevelopmental syndrome characterized by mild intellectual disability, developmental delay, dysmorphic facial features, growth- and feeding problems, hypotonia, epilepsy, behavioral problems and a variety of congenital abnormalities.|ORDO|N|
CN260071|Crohn's disease is a complex, long-lasting (chronic) disorder that primarily affects the digestive system. This condition involves an abnormal immune response that causes excess inflammation. It most often affects the intestinal walls, particularly in the lower part of the small intestine (the ileum) and portions of the large intestine (the colon). However, inflammation can occur in any part of the digestive system, from the mouth to the anus. The inflamed tissues become thick and swollen, and the inner surfaces of the digestive system may develop open sores (ulcers).\n\nCrohn's disease most commonly appears in a person's late teens or twenties, although the disease can begin at any age. Signs and symptoms tend to flare up  multiple times throughout life. The most common features of this condition are persistent diarrhea, abdominal pain and cramping, loss of appetite, weight loss, and fever. Some people with Crohn's disease have blood in the stool from inflamed tissues in the intestine; over time, chronic bleeding can lead to a low number of red blood cells (anemia). In some cases, Crohn's disease can also cause inflammation affecting the joints, eyes, or skin.\n\nIntestinal blockage is a common complication of Crohn's disease. Blockages are caused by swelling or a buildup of scar tissue in the intestinal walls. Some affected individuals also develop fistulae, which are abnormal connections between the intestine and other tissues. Fistulae occur when ulcers break through the intestinal wall and passages form between loops of the intestine or between the intestine and nearby structures (such as the bladder, vagina, or skin).\n\nCrohn's disease is one common form of inflammatory bowel disease (IBD). Another type of IBD, ulcerative colitis, also causes chronic inflammation of the intestinal lining. Unlike Crohn's disease, which can affect any part of the digestive system, ulcerative colitis typically causes inflammation only in the colon.|MedlinePlus Genetics|N|
CN260585|The first identified CACNA1C-related disorder, referred to as Timothy syndrome, consists of the combination of prolonged QT interval, autism, and cardiovascular malformation with syndactyly of the fingers and toes. Infrequent findings also include developmental and speech delay, seizures, and recurrent infections. With increased availability of molecular genetic testing, a wider spectrum of pathogenic variants and clinical findings associated with CACNA1C-related disorders has been recognized. Because CACNA1C is associated with calcium channel function, all individuals with a pathogenic variant in this gene are at risk for cardiac arrhythmia of a specific type. The clinical manifestations of a CACNA1C-related disorder include three phenotypes: Timothy syndrome with or without syndactyly. QT prolongation (QTc >480 ms) and arrhythmias in the absence of other syndromic features. Short QT syndrome (QTc <350 ms) or Brugada syndrome with short QT interval. These three phenotypes can be separated into two broad categories on the basis of the functional consequences of the pathogenic variants in CACNA1C: QT prolongation with or without a Timothy syndrome-associated phenotype associated with pathogenic variants inducing a gain of function at the cellular level (i.e., increased calcium current). Short QT interval with or without Brugada syndrome EKG pattern associated with pathogenic variants causing loss of function (i.e., reduced calcium current).|GeneReviews|N|
CN260758|A neoplasm with neuroendocrine differentiation that arises from the pancreas. It includes neuroendocrine tumors (low and intermediate grade) and neuroendocrine carcinomas (high grade).|MONDO|N|
CN261036|A rare, genetic, non-syndromic developmental defect during embryogenesis disorder characterized by uni- or bilateral overgrowth of lower limbs involving bones and/or soft tissues and resulting in an abnormal increase in leg length and/or width. Hypertrophy presents either as a proportionate overgrowth of entire limb or involves only the proximal or distal parts of it. Phenotype ranges from mild hypertrophy without functional disability to massively hypertrophied limb with knee flexion and ankle equinus contractures and macrodystrophia lipomatosa. Patients may also present vascular abnormalities (e.g. cutaneous angiomas, varicose veins) and myalgia.|ORDO|N|
CN261051|A rare non-histaminic angioedema characterized by potentially life-threatening episodes of edema of subcutaneous and/or mucosal tissues without urticaria, caused by excessive consumption of C1 esterase inhibitor (C1-INH) in the context of lymphoproliferative or autoimmune diseases. Patients typically present in the fourth decade of life or later and without a family history of angioedema. Clinical manifestation includes nonpitting edema of the skin predominantly involving the face, but also the limbs or genitals, as well as abdominal pain due to involvement of the gastrointestinal mucosa, and severe edema of the upper airway and oral mucosa. Laboratory examination shows low C1-INH activity and low C3, C4, and C1q levels. Autoantibodies to C1-INH are frequently detectable.|ORDO|N|
CN262437|A rare autosomal recessive form of lipodystrophy characterized by the association of generalized lipoatrophy with acromegaloid features, muscle hypertrophy, insulin resistance, hypertriglyceridemia, and liver steatosis.|ORDO|N|
CN262925|Tafenoquine is an antimalarial agent that was approved by the FDA in 2018 for preventing malaria (brand name Arakoda, 100 mg tablets), and for the radical cure of malaria (brand name Krintafel, 150 mg tablets) caused by Plasmodium vivax (P. vivax). Malaria is caused by the Plasmodium parasite, which infects mosquitos and is spread to humans when an infected mosquito bites a person. In 2018 the World Health Organization (WHO) estimated 228 million cases of malaria occurred worldwide. There are several clinical patterns of malaria that are caused by different species of the parasite. In P. vivax malaria, the parasite can lie dormant in the liver as hypnozoites, until it emerges weeks or months later, to cause a relapse of malaria. In combination with an antimalarial active against the blood stage parasites, tafenoquine provides a radical cure of P. vivax by targeting its dormant liver stage, thus preventing malaria relapse. Tafenoquine is the second drug of its kind (with hypnozoiticidal activity) to be approved by the FDA. The first was primaquine, approved in 1952. Because of its longer half-life, tafenoquine can be dosed less frequently than primaquine, which may improve compliance. For example, when used for the radical cure of P. vivax malaria, tafenoquine is taken as a single 300 mg dose (in uncomplicated cases, in persons aged 16 years and older). In contrast, primaquine radical cure is recommended to be given daily over 14 days, or higher doses over 7 days. Tafenoquine, like primaquine, should not be used in individuals with glucose-6-phosphate dehydrogenase (G6PD) deficiency. In the case of tafenoquine, an individual with <70% of normal G6PD activity is considered deficient and should not take the drug. Worldwide, approximately 400 million people have a deficiency of the G6PD enzyme, but most are asymptomatic and do not know they are at risk. A lack of G6PD in red blood cells makes the cells susceptible to damage by oxidative stress. Usually, only low levels of oxidative stress occur naturally, and so the condition is undetected. However, certain drugs, which include tafenoquine and primaquine, are oxidizing agents. In people with G6PD deficiency, these drugs cause irreparable oxidative damage to the red blood cells, which are then rapidly destroyed (hemolysis). This can lead to a potentially life-threatening deficiency of mature red blood cells (hemolytic anemia). The FDA-approved drug label for tafenoquine states that testing for G6PD must be performed before starting tafenoquine therapy, and that all individuals should be monitored for signs of hemolysis. In addition, because of the risk of tafenoquine causing fetal harm in a woman pregnant with a fetus with G6PD deficiency, pregnancy testing is highly recommended in women of reproductive age. Consequently, tafenoquine therapy is contraindicated in adults when the G6PD status is either unknown, intermediate or deficient, namely, enzyme activity lower than 70%, in pregnancy, and in breastfeeding mothers when the infant’s G6PD status is either unknown or deficient. To date, no safety studies have been reported in children.|Medical Genetics Summaries|N|
CN262977|Ehlers-Danlos, vascular-like type is an adult-onset form of Ehlers-Danlos syndrome characterized by spontaneous dissection of medium-sized arteries during young adulthood, including mainly the iliac, femoral, and renal arteries.|MONDO|N|
CN263119|Opitz GBBB syndrome (GBBB) is a congenital midline malformation syndrome characterized by hypertelorism, hypospadias, cleft lip/palate, laryngotracheoesophageal abnormalities, imperforate anus, developmental delay, and cardiac defects (So et al., 2005).|OMIM|N|
CN263120|Peeling skin syndrome is a rare genodermatosis with variable age of onset from birth to adulthood. Clinically, it is characterized by a pruritic or nonpruritic spontaneous superficial peeling of the skin, which sometimes is accompanied by erythema or vesiculation. The skin involvement is usually general, but in some patients the scalp, face, palms, and soles may be unaffected. Seasonal changes have been reported. The histologic picture is characterized by separation of the epidermis between the statum corneum and the stratum granulosum (summary by Hacham-Zadeh and Holubar, 1985).
Generalized PSS has been subclassified into a noninflammatory type, designated type A, and an inflammatory type, designated type B (Traupe, 1989; Judge et al., 2004). Type B, in which generalized peeling skin is associated with pruritus and atopy, is characterized by lifelong patchy peeling of the entire skin with onset at birth or shortly thereafter. Several patients have been reported with high IgE levels (summary by Oji et al., 2010). Type A, a continuous nonerythematous exfoliation, is usually congenital or appears during childhood (summary by Mallet et al., 2013).
Genetic Heterogeneity of Peeling Skin Syndrome
Peeling skin syndrome-2 (PSS2; 609796), an acral form of the disorder that mainly involves palmar and plantar skin, is caused by mutation in the TGM5 gene (603805) on chromosome 15q15. Peeling skin syndrome-3 (PSS3; 616265) has been mapped to chromosome 19q13. Peeling skin syndrome-4 (PSS4; 607936) is caused by mutation in the CSTA gene (184600) on chromosome 3q21. Peeling skin syndrome-5 (PSS5; 617115) is caused by mutation in the SERPINB8 gene (601697) on chromosome 18q22. PSS6 (618084) is caused by mutation in the FLG2 gene (616284) on chromosome 1q21.|OMIM|N|
CN263128|A rare, hereditary connective tissue disease characterized by severe ocular manifestations due to extreme corneal thinning and fragility with rupture in the absence of significant trauma, often leading to irreversible blindness. Extraocular manifestations comprise deafness, developmental hip dysplasia, and joint hypermobility.|ORDO|N|
CN263131|Familial cortical myoclonus is a rare, genetic movement disorder characterized by autosomal dominant, adult-onset, slowly progressive, multifocal, cortical myoclonus. Patients present somatosensory-evoked, brief, jerky, involuntary movements in the face, arms and legs, associated in most cases with sustained, multiple, sudden falls without loss of consciousness. Seizures or other neurological deficits, aside from mild cerebellar ataxia late in the course of the illness, are absent.|ORDO|N|
CN263150|A rare genetic neuromuscular disease characterized by early onset muscular weakness with predominant proximal lower limb involvement. The disorder is static or only mildly progressive. The severity of manifestations ranges from lethal, congenital muscular atrophy with arthrogryposis to asymptomatic with subclinical features.|ORDO|N|
CN263207|Bilateral striopallidodentate calcinosis (BSPDC, also erroneously called Fahr disease) is characterized by the accumulation of calcium deposits in different brain regions, particularly the basal ganglia and dentate nucleus, and is often associated with neurodegeneration.|ORDO|N|
CN263237|A microphthalmia that is not part of a larger syndrome.|MONDO|N|
CN263240|The fetal akinesia deformation sequence (FADS) refers to a clinically and genetically heterogeneous constellation of features including fetal akinesia, intrauterine growth retardation, arthrogryposis, and developmental anomalies, including lung hypoplasia, cleft palate, and cryptorchidism (Vogt et al., 2009). It shows phenotypic overlap with the lethal form of multiple pterygium syndrome (see 253290).
Genetic Heterogeneity of Fetal Akinesia Deformation Sequence
FADS2 (618388) is caused by mutation in the RAPSN gene (601592), FADS3 (618389) is caused by mutation in the DOK7 gene (618389), and FADS4 (618393) is caused by mutation in the NUP88 gene (602552).
As mutations in the MUSK, RAPSN, and DOK7 genes have been associated with congenital myasthenic syndromes (see, e.g., CMS1A, 601462), the disorders in these patients likely represent extreme phenotypes of CMS (Vogt et al., 2009).|OMIM|N|
CN263260|MIDAS syndrome (Microphthalmia, Dermal Aplasia, and Sclerocornea), also called microphthalmia with linear skin defects syndrome, is characterized by ocular defects (microphthalmia, orbital cysts, corneal opacities) and linear skin dysplasia of the neck, head, and chin. It has been reported in less than 50 patients. Additional findings may include agenesis of corpus callosum, sclerocornea, chorioretinal abnormalities, hydrocephalus, seizures, intellectual deficit, and nail dystrophy. It is transmitted as an X-linked dominant trait with male lethality.|ORDO|N|
CN263289|Hereditary multiple osteochondromas (HMO), previously called hereditary multiple exostoses (HME), is characterized by growths of multiple osteochondromas, benign cartilage-capped bone tumors that grow outward from the metaphyses of long bones. Osteochondromas can be associated with a reduction in skeletal growth, bony deformity, restricted joint motion, shortened stature, premature osteoarthrosis, and compression of peripheral nerves. The median age of diagnosis is three years; nearly all affected individuals are diagnosed by age 12 years. The risk for malignant degeneration to osteochondrosarcoma increases with age, although the lifetime risk for malignant degeneration is low (~2%-5%).|GeneReviews|N|
CN263340|Juvenile arthritis (JUVAR) is characterized by onset in early childhood of symmetric arthritis in multiple joints, associated with a marked increase in inflammatory markers. Some patients exhibit systemic symptoms, including quotidian fever, erythematous rash, generalized lymphadenopathy, hepatomegaly, and/or splenomegaly. There is high clinical variability, even within the same family (Karacan et al., 2018).|OMIM|N|
CN263368|Nocturnal enuresis with at least 3 nightly episodes in children older than 7 years, where the child has always had the disorder.|MONDO|N|
CN263369|Cerebral palsy (CP) is defined as a nonprogressive but not unchanging disorder of posture or movement, caused by an abnormality of the brain and first evident at the stage of rapid brain development (Hughes and Newton, 1992). It is a common disorder of childhood, with an incidence of 1 in 250 to 1,000 births (Pharoah et al., 1987; Bundey and Alam, 1993). Ataxic cerebral palsy accounts for 5 to 10% of all forms of CP, and approximately 50% of ataxic CP is thought to be inherited as an autosomal recessive trait (McHale et al., 2000). Also see spastic cerebral palsy (e.g., 612900).|OMIM|N|
CN263371|Coloboma is an ocular birth defect resulting from abnormal development of the eye during embryogenesis. It is defined as a congenital defect in any ocular tissue, typically presenting as absent tissue or a gap, at a site consistent with aberrant closure of the optic fissure. Failure of fusion can lead to coloboma of one or multiple regions of the inferior portion of the eye affecting any part of the globe traversed by the fissure, from the iris to the optic nerve, including the ciliary body, retina, and choroid. Coloboma is also frequently associated with small (microphthalmic) or absent (anophthalmic) eyes as part of an interrelated spectrum of developmental eye anomalies, and can affect either one or both eyes (summary by Kelberman et al., 2014).
Microphthalmia/coloboma-12 (MCOPCB12) is characterized by inter- and intrafamilial variability. In addition to microphthalmia and coloboma, other ocular anomalies include iris hypoplasia, aphakia or small lens, lens subluxation, congenital cataract, microcornea, and sclerocornea. Some patients also exhibit neurodevelopmental anomalies (Deml et al., 2016; Williamson et al., 2020).
For a discussion of genetic heterogeneity of colobomatous microphthalmia, see MCOPCB1 (300345).|OMIM|N|
CN263400|Tyrosine hydroxylase (TH) deficiency is associated with a broad phenotypic spectrum. Based on severity of symptoms/signs as well as responsiveness to levodopa therapy, clinical phenotypes caused by pathogenic variants in TH are divided into (1) TH-deficient dopa-responsive dystonia (the mild form of TH deficiency), (2) TH-deficient infantile parkinsonism with motor delay (the severe form), and (3) TH-deficient progressive infantile encephalopathy (the very severe form). In individuals with TH-deficient dopa-responsive dystonia (DYT5b, DYT-TH), onset is between age 12 months and 12 years; initial symptoms are typically lower-limb dystonia and/or difficulty in walking. Diurnal fluctuation of symptoms (worsening of the symptoms toward the evening and their alleviation in the morning after sleep) may be present. In most individuals with TH-deficient infantile parkinsonism with motor delay, onset is between age three and 12 months. In contrast to TH-deficient DRD, motor milestones are overtly delayed in this severe form. Affected infants demonstrate truncal hypotonia and parkinsonian symptoms and signs (hypokinesia, rigidity of extremities, and/or tremor). In individuals with TH-deficient progressive infantile encephalopathy, onset is before age three to six months. Fetal distress is reported in most. Affected individuals have marked delay in motor development, truncal hypotonia, severe hypokinesia, limb hypertonia (rigidity and/or spasticity), hyperreflexia, oculogyric crises, ptosis, intellectual disability, and paroxysmal periods of lethargy (with increased sweating and drooling) alternating with irritability.|GeneReviews|N|
CN265096|A rare bacterial infectious disease most prominently characterized by a red, sandpaper-like rash, a strawberry-like tongue, and a flushed face with perioral pallor. Other clinical symptoms include pharyngitis, tonsillitis, fever, headaches, and swollen lymph nodes. Potential complications are sinusitis, pneumonia, rheumatic fever, glomerulonephritis, and endocarditis, among others. The disease is caused by infection with toxin producing strains of <i>Streptococcus pyogenes</i> and can affect people of any age, although it is most common in children.|ORDO|N|
CN266883|Neuroectodermal-endocrine syndrome is characterized by a combination of endocrine and neuroectodermal abnormalities, including low growth hormone levels, delayed puberty, type II diabetes mellitus, mild intellectual deficit, sensorineural deafness, characteristic facial appearance and alopecia. It has been described in four sibs from Myanmar.|MONDO|N|
CN268574|The Glass-Chapman-Hockley syndrome is a very rare disease. To date, the syndrome has only been reported in one family with five members affected in three generations. The first patients were two brothers that had an abnormally-shaped head due to coronal craniosynostosis. Their mother, maternal aunt, and maternal grandmother were also found to have the syndrome. The signs and symptoms varied from person to person; however, the signs and symptoms included coronal craniosynostosis, small middle part of the face (midfacial hypoplasia), and short fingers (brachydactyly).The inheritance is thought to be autosomal dominant. No genes have been identified for this syndrome. Treatment included surgery to correct the craniosynostosis. No issues with development and normal intelligence were reported. This is an n-of-1 use case where only one patient or family has been described with this disorder.|MONDO|N|
CN272964|A rare genetic cerebral small vessel disease characterized by recurrent ischemic strokes, often with a predilection for the pons, with typical onset in the fourth or fifth decade of life. Patients present progressive cognitive and motor impairment with pyramidal, bulbar, and cerebellar symptoms, among others. Brain imaging shows multiple lacunar infarcts, typically with involvement of the pons, as well as variable leukoencephalopathy of the cerebral hemispheres.|ORDO|N|
CN273068|Acro-pectoro-renal field defect is a very rare association of a Poland anomaly, that is characterized by unilateral absence or hypoplasia of the pectoralis major muscle (most frequently involving the sternocostal head) and a variable degree of ipsilateral hand anomalies (including symbrachydactyly, brachydactyly, absent thumb and hypoplastic fingers), combined with a genito-urinary anomaly. Associated genito-urinary anomalies reported include renal hypoplasia or agenesis, duplex collecting system, ureteropelvic junction obstruction, hypospadias and undescended testicles.|MONDO|N|
CN273234|A clear cell adenocarcinoma of the uterine ligament composed mainly of clear or hobnob cells. The clear cells are large, bizarre, and multinucleated.|MONDO|N|
CN273383|A malignant mesenchymal neoplasm arising from adipocytes.|MONDO|N|
CN273517|A rare endometrioid adenocarcinoma that arises from the uterine ligament. Some of the reported cases were associated with endometriosis.|MONDO|N|
CN273531|Breast adenosis characterized by the presence of ducts with distended lumen and columnar cell metaplasia.|MONDO|N|
CN273617|A rapidly growing squamous cell carcinoma that arises from the vulva. It is self-limited and is characterized by the presence of a central crater that contains squamous cells. The proliferating squamous cells infiltrate the dermis below and produce keratin masses that are pushed towards the surface of the tumor.|MONDO|N|
CN273890|A grade I or grade II astrocytic tumor. This category includes pilocytic astrocytoma (grade I), subependymal giant cell astrocytoma (grade I), and diffuse astrocytoma (grade II).|MONDO|N|
CN274247|An extremely rare adenosarcoma that arises from the uterine ligament.|MONDO|N|
CN274558|Robinow-like syndrome is characterized by the association of the clinical features present in Robinow syndrome (short stature, mesomelic brachymelia, macrocephaly, and hypoplastic genitalia), with anterior chamber cleavage anomalies. It has been described in two sisters and is transmitted as an autosomal recessive trait.|MONDO|N|
CN274783|An adenomyoma that arises from the cervix and is characterized by the presence of endometrial type glands and endometrial stroma, surrounded by smooth muscle. There is no evidence of atypia.|MONDO|N|
CN275536|A rare mucinous adenocarcinoma that arises from the uterine ligament.|MONDO|N|
CN275657|A squamous cell tumor that arises from the ovary and is not associated with a germ cell tumor.|MONDO|N|
CN276905|A very rare lysosomal storage disease that is clinically and pathologically heterogeneous and is characterized by deficient NAGA activity.|ORDO|N|
CN277653|An intrahepatic cholangiocarcinoma that arises from the intrahepatic large bile ducts.|MONDO|N|
CN277744|A rare X-linked syndromic intellectual disability characterized by intellectual disability of variable degree, behavioral anomalies (including autism, mood disorders, obsessive-compulsive behavior, and hetero- and auto-aggression), and epilepsy. Progressive neurological symptoms like movement disorders and spasticity, as well as subtle dysmorphic features have also been reported. Heterozygous females may be as severely affected as males.|ORDO|N|
CN278087|Familial primary hypomagnesemia with normocalcuria (FPHN) is a form of familial primary hypomagnesemia (FPH) which is characterized by low magnesium values but normal calcium values in the serum. The disorder consists of three distinct forms which are: autosomal recessive primary hypomagnesemia with normocalcuria and hypocalcemia (ARPHN), familial primary hypomagnesemia with normocalcuria and normocalcemia (FPHNN) and isolated autosomal dominant hypomagnesemia, Glaudemans type.|MONDO|N|
CN278172|A cervical mucinous adenocarcinoma characterized by the presence of malignant glandular cells that resemble those of the endocervix.|MONDO|N|
CN278638|Giant adenofibroma of the breast is a rare, benign, fibroepithelial tumor which usually manifests as a unilateral, painless, firm, mobile, slow-growing mass in the breast that measures more than 5 cm. It can be associated with significant asymmetry and/or deformity of the breast and hormonal changes (e.g. puberty, pregnancy, oral contraceptives) can lead to its marked enlargement.|ORDO|N|
CN278735|A rare type of pineal parenchymal tumor (PPT) of intermediate-grade malignancy manifesting with visual disturbances, headaches, loss of coordination and balance, nausea and vomiting due to obstructive hydrocephalus, and that is classified as either grade II PPTID (pineal parenchymal tumor of intermediate differentiation) or grade III PPTID according to the degree of neuronal differentiation and mitotic activity.|ORDO|N|
CN278823|A severe form of alpha-thalassemia that is mostly lethal, and associated with severe long-term outcome and lifelong transfusions in survivors. It is characterized by fetal onset of generalized edema, pleural and pericardial effusions, and severe hypochromic anemia.|ORDO|N|
CN278825|Classic paraneoplastic limbic encephalitis is a rare neuroimmunological disorder characterized by the sudden onset of seizures, progressive memory impairment (which may develop into dementia) and psychiatric manifestations (e.g. depression, personality changes, loss of social inhibition) associated with cancer (most commonly small-cell carcinoma of the lung) in the absence of tumor cell invasion of the nervous system. Other reported features include ataxia, dystonia, paresthesia, tremors, paranoid ideation, and hallucinations. The presence of antibodies that act on neuronal antigens (such as anti-Hu, anti-Ma2, anti-amphiphysin) are typically observed.|MONDO|N|
CN279074|A mature monodermal teratoma that arises from the ovary and is characterized by the presence of benign, thyroid-type tissues.|MONDO|N|
CN279271|Multiple small zones of sarcomeric disorganization and lack of oxidative activity (known as minicores) in muscle fibers.|HPO|N|
CN279690|Primary localized cutaneous nodular amyloidosis (PLCNA) is the most rare form of primary cutaneous amyloidosis (see this term), a skin disease characterized by the accumulation of amyloid deposits in the dermis, characterized clinically by yellowish waxy crusted nodules and papules on the face, lower extremities, trunk, scalp, and genitalia and histologically by the localized deposition of immunoglobulin-derived amyloid in the papillary dermis and subcutis. PLCNA can be associated with connective tissue disorders such as Sjögren?s syndrome and CREST syndrome (see these terms).|ORDO|N|
CN279762|45,X/46,XY mixed gonadal dysgenesis (45,X/46,XY MGD) is a disorder of sex development (DSD) associated with a numerical sex chromosome abnormality resulting from Y-chromosome mosaicism and leading to abnormal gonadal development.|ORDO|N|
CN279952|A rare genetic neurometabolic disease characterized by early neonatal refractory seizures, hypotonia, and respiratory failure. Brain imaging reveals simplified gyral pattern of the frontal lobes, white matter abnormalities, gliosis and volume loss in various brain regions, and vasogenic edema. Serum glutamine levels are significantly elevated. Death occurs within weeks after birth.|ORDO|N|
CN280315|An intellectual disability that is not part of a larger syndrome.|MONDO|N|
CN280382|A rare, congenital limb malformation characterized by shortening (hypoplasia or aplasia) of the middle phalanges of the index finger and, sometimes, of the fifth finger. On radiographs, the middle phalanx of the index fingers often appear triangular and in severely affected cases, the index finger is curved radially. The lower limb phenotype is generally milder.|ORDO|N|
CN280572|Individuals with hereditary distal renal tubular acidosis (dRTA) typically present in infancy with failure to thrive, although later presentations can occur, especially in individuals with autosomal dominant SLC4A1-dRTA. Initial clinical manifestations can also include emesis, polyuria, polydipsia, constipation, diarrhea, decreased appetite, and episodes of dehydration. Electrolyte manifestations include hyperchloremic non-anion gap metabolic acidosis and hypokalemia. Renal complications of dRTA include nephrocalcinosis, nephrolithiasis, medullary cysts, and impaired renal function. Additional manifestations include bone demineralization (rickets, osteomalacia), growth deficiency, sensorineural hearing loss (in ATP6V0A4-, ATP6V1B1-, and FOXI1-dRTA), and hereditary hemolytic anemia (in some individuals with SLC4A1-dRTA).|GeneReviews|N|
CN280943|Familial colon cancer is a cluster of colon cancer within a family. Most cases of colon cancer occur sporadically in people with little to no family history of the condition. Approximately 3-5% of colon cancer is considered 'hereditary' and is thought to be caused by an inherited predisposition tocolon cancer that is passed down through a family in an autosomal dominant or autosomal recessive manner. In some of these families, the underlying genetic cause is not known; however, many of these cases are caused by changes (mutations) in the APC , MYH , MLH1 , MSH2 , MSH6 , PMS2 , EPCAM , PTEN , STK11 , SMAD4 , BMPR1A , NTHL1 , POLE , and POLD1 genes (which are associated with hereditary cancer syndromes). An additional 10-30% of people diagnosed with colon cancer have a significant family history of the condition but have no identifiable mutation in a gene known to cause a hereditary predisposition to colon cancer. These clusters of colon cancer are likely due to a combination of gene(s) and other shared factors such as environment and lifestyle. High-risk cancer screening and other preventative measures such as prophylactic surgeries are typically recommended in people who have an increased risk for colon cancer based on their personal and/or family histories.|MONDO|N|
CN281654|A rare, genetic, constitutional thrombocytopenia disease characterized by mild to moderate thrombocytopenia, abnormal platelet function and a propensity to develop hematological malignancies, mainly of myeloid origin.|ORDO|N|
CN281655|Infections with organisms of the genus HELICOBACTER, particularly, in humans, HELICOBACTER PYLORI. The clinical manifestations are focused in the stomach, usually the gastric mucosa and antrum, and the upper duodenum. This infection plays a major role in the pathogenesis of type B gastritis and peptic ulcer disease.|MONDO|N|
CN281656|Infections with bacteria of the family moraxellaceae.|MONDO|N|
CN281657|Any of several bacterial diseases, usually caused by pasteurella multocida, marked by the presence of hemorrhagic areas in the subcutaneous tissues, serous membranes, muscles, lymph glands, and throughout the internal organs. The diseases primarily affect animals and rarely humans.|MONDO|N|
CN281658|Infections with bacteria of the family anaplasmataceae.|MONDO|N|
CN281659|Infections with bacteria of the genus haemophilus.|MONDO|N|
CN281660|Infections with bacteria of the family rickettsiaceae.|MONDO|N|
CN281661|An disease caused by infection with Treponema.|MONDO|N|
CN281663|Infections with bacteria of the genus yersinia.|MONDO|N|
CN281668|Infectious disease causes by viruses in the subfamily Orthocoronavirinae (coronaviruses). In humans, coronaviruses cause respiratory tract infections that can be mild, such as some cases of the common cold (among other possible causes, predominantly rhinoviruses), and others that can be lethal, such as SARS, MERS, and COVID-19.|MONDO|N|
CN281670|Virus diseases caused by the bunyaviridae.|MONDO|N|
CN281743|An disease or disorder caused by infection with Histoplasma capsulatum.|MONDO|N|
CN281745|An infection that is caused by protozoans.|MONDO|N|
CN281750|Any disease caused by a virus.|MONDO|N|
CN281751|Aeromonas hydrophila infection is a bacterial disease caused by infection from the Aeromonas hydrophila bacteria.|MONDO|N|
CN281753|A bacterial infection induced by Pectobacterium carotovorum which is is a bacterium of the family Enterobacteriaceae. This bacterius is a ubiquitous plant pathogen with a wide host range (carrot, potato, tomato, leafy greens, squash and other cucurbits, onion, green peppers, African violets etc.), able to cause disease in almost any plant tissue it invades. It is a very economically important pathogen in terms of postharvest losses, and a common cause of decay in stored fruits and vegetables. Decay caused by E. carotovora is often simply referred to as "bacterial soft rot" (BSR) though this may also be caused by other bacteria. Most plants or plant parts can resist invasion by the bacteria, unless some type of wound is present. High humidity and temperatures around 30°C favor development of decay. Mutants can be produced which are less virulent. Virulence factors include: pectinases, cellulases, (which degrade plant cell walls), and also proteases, lipases, xylanases and nucleases (along with the normal virulence factors for pathogens – Fe acquisition, LPS integrity, multiple global regulatory systems).|MONDO|N|
CN281755|A Pseudomonas aeruginosa CF5 infection is a Pseudomonas infection of strain CF5.|MONDO|N|
CN281756|A Pseudomonas aeruginosa PA14 infection is a Pseudomonas infection of strain PA14.|MONDO|N|
CN281758|Septic peritonitis is an inflammatory condition of the peritoneum that occurs secondary to microbial contamination. This clinically important condition has a wide variety of clinical courses as well as high morbidity and mortality due to secondary multiorgan dysfunction. This article reviews the etiology and pathophysiology of this condition and its diagnosis in small animals; a companion article addresses treatment and prognosis.|MONDO|N|
CN281762|Chronic form of hepatitis C infection.|MONDO|N|
CN281766|Virus diseases caused by the arenaviridae.|MONDO|N|
CN281767|Infections with nematodes of the order ascaridida.|MONDO|N|
CN281768|Infections with organisms of the genus blastocystis. The species B. hominis is responsible for most infections. Parasitologic surveys have generally found small numbers of this species in human stools, but higher positivity rates and organism numbers in aids patients and other immunosuppressed patients (immunocompromised host). Symptoms include abdominal pain; diarrhea; constipation; vomiting; and fatigue.|MONDO|N|
CN281770|Virus diseases caused by caliciviridae. They include hepatitis E; vesicular exanthema of swine; acute respiratory infections in felines, rabbit hemorrhagic disease, and some cases of gastroenteritis in humans.|MONDO|N|
CN281773|An infection that is caused by Chlamydia trachomatis.|MONDO|N|
CN281774|Virus diseases caused by the coronavirus genus. Some specifics include transmissible enteritis of turkeys (enteritis, transmissible, of turkeys); feline infectious peritonitis; and transmissible gastroenteritis of swine (gastroenteritis, transmissible, of swine).|MONDO|N|
CN281775|Infections with nematodes of the order enoplida.|MONDO|N|
CN281776|Infections with viruses of the family flaviviridae.|MONDO|N|
CN281780|A disorder caused by hantaviruses of the family Bunyaviridae. It is transmitted by rodents and is manifested with fever, hemorrhage, and renal failure. Other symptoms include headaches, abdominal and back pain, and blurred vision.|MONDO|N|
CN281781|Infections with viruses of the genus henipavirus, family paramyxoviridae.|MONDO|N|
CN281783|Stomatitis caused by Herpesvirus hominis. It usually occurs as acute herpetic stomatitis (or gingivostomatitis), an oral manifestation of primary herpes simplex seen primarily in children and adolescents.|MONDO|N|
CN281784|Virus diseases caused by the herpesviridae.|MONDO|N|
CN281785|Infection of humans or animals with hookworms other than those caused by the genus Ancylostoma or Necator, for which the specific terms ancylostomiasis and necatoriasis are available.|MONDO|N|
CN281794|Infections with viruses of the family paramyxoviridae. This includes morbillivirus infections; respirovirus infections; pneumovirus infections; henipavirus infections; avulavirus infections; and rubulavirus infections.|MONDO|N|
CN281798|Infection with larvae of the blow fly Cochliomyia hominivorax (Callitroga americanum), a common cause of disease in livestock in the southern and southwestern U.S.A.|MONDO|N|
CN281802|Infections with nematodes of the order strongylida.|MONDO|N|
CN281803|A sexually transmitted parasitic infection caused by Trichomonas vaginalis. Symptoms include vaginal discharge, vaginal odor, vaginal itching, and discomfort during intercourse.|MONDO|N|
CN281806|Demodicidosis is a rare parasitic cutaneous disease due to <i>Demodex</i> mite infestation characterized by variable degrees of spinulosis, erythema, papules, and pustules, usually accompanied by a burning or pruritic sensation. Face (incl. eyelids) is most frequently affected, but ear canal, scalp, neck, back, chest, nipples, buttocks, penis, and extremity (legs and arms) involvement have also been observed. Dermoscopic examination reveals Demodex tails and follicular openings.|ORDO|N|
CN281807|Sporadic Creutzfeldt-Jakob disease (sCJD) is the most common type of CJD, accounting for around 85% of cases. The precise cause of sporadic CJD is unclear, but it's been suggested that a normal brain protein changes abnormally ('misfolds') and turns into a prion. Most cases of sporadic CJD occur in adults aged between 45 and 75. On average, symptoms develop at age 60-65 years.|MONDO|N|
CN281808|A bacteria-induced exanthem|MONDO|N|
CN281810|Infections with bacteria of the genus actinobacillus.|MONDO|N|
CN281811|Infections with bacteria of the family Desulfovibrionaceae.|MONDO|N|
CN281873|Infections with bacteria of the genus CHLAMYDIA.|MONDO|N|
CN281874|An infectious disease involving the Acanthamoeba.|MONDO|N|
CN281876|A demodicidosis that involves the sebaceous gland.|MONDO|N|
CN281877|Skin diseases caused by bacteria, fungi, parasites, or viruses.|MONDO|N|
CN281878|Skin diseases caused by bacteria.|MONDO|N|
CN281880|Invasion of the host RESPIRATORY SYSTEM by microorganisms, usually leading to pathological processes or diseases.|MONDO|N|
CN281881|Infections with bacteria of the genus clostridium.|MONDO|N|
CN281886|Virus infections caused by the parvoviridae.|MONDO|N|
CN281887|Infections with bacteria of the genus KLEBSIELLA.|MONDO|N|
CN281888|An disease or disorder caused by infection with Trichomonas tenax.|MONDO|N|
CN281892|Infections with true tapeworms of the helminth subclass Cestoda.|MONDO|N|
CN281894|A viral, bacterial, fungal, or parasitic infectious process that affects the digestive system.|MONDO|N|
CN281896|A bacterial infection related to a device used to replace a missing body part. The infection may occur during the operation from direct contamination or post-operatively through hematogenous spread.|MONDO|N|
CN281898|Infections with bacteria of the genus Burkholderia.|MONDO|N|
CN281900|An infection that is caused by Schistosoma japonicum.|MONDO|N|
CN281901|An infection that is caused by Schistosoma mansoni.|MONDO|N|
CN281902|A mycosis that arises from infection in an immunologically compromised host and is systemic.|MONDO|N|
CN281904|Infections caused by viruses of the genus in the family caliciviridae, which is associated with epidemic gastroenteritis in humans.|MONDO|N|
CN281908|An infectious disease caused by infection with rickettsia conorii subsp. israelensis.|MONDO|N|
CN281909|A spotted fever that has material basis in Rickettsia parkeri, which is transmitted by Gulf Coast tick (Amblyomma maculatum). The infection has symptom fever, has symptom headache, has symptom eschar, and has symptom rash.|MONDO|N|
CN281910|A anthrax infection that involves the oropharynx.|MONDO|N|
CN281911|A dermatophyte infection of the hair that infects the hair surface.|MONDO|N|
CN281912|A dermatophyte infection of the hair that nvade the hair shaft and internalize into the hair cell.|MONDO|N|
CN281913|A mycosis that involves the integument and its appendages, including hair and nails. Infection may involve the stratum corneum or deeper layers of the epidermis.|MONDO|N|
CN281917|A West Nile encephalitis that results in infection located in brain, has material basis in Kunjin virus, a subtype of West Nile Virus, which is transmitted by Culex annulirostris mosquito bite. The infection has symptom fever, has symptom rigor, has symptom headache, has symptom confusion, and has symptom lethargy.|MONDO|N|
CN281919|A viral infectious disease that is a hemorrhagic fever, has material basis in Whitewater Arroyo virus, which is transmitted by white-throated woodrats (Neotoma albigula). The infection has symptom fever, has symptom headache, has symptom myalgia, and has symptom hemorrhagic manifestations.|MONDO|N|
CN281922|A disease caused by infection with Philophthalmus.|MONDO|N|
CN281924|A disease caused by infection with Ichthyosporea.|MONDO|N|
CN281925|A systemic mycosis that arises from infection in an immunologically normal host.|MONDO|N|
CN281928|A bacterial infectious disease that results in infection by bacteria which are part of the normal human flora when one or more of the defense mechanisms designed to restrict them from the usually sterile internal tissues are breached by accident, by intent (surgery), or by an underlying metabolic or an infectious disorder.|MONDO|N|
CN281930|A disease caused by infection with Rickettsia helvetica.|MONDO|N|
CN281931|A tertiary neurosyphilis that results when chronic meningoencephalitis causes destruction of cortical parenchyma. The infection has symptom irritability, has symptom difficulty concentrating, has symptom deterioration of memory, has symptom defective judgment, has symptom headaches, has symptom insomnia, has symptom fatigue, and has symptom lethargy.|MONDO|N|
CN281932|A tertiary neurosyphilis that results in inflammation located in arteries of the brain or located in arteries of spinal cord. The infection has symptom headache, has symptom neck stiffness, has symptom dizziness, has symptom behavioral abnormalities, has symptom poor concentration, has symptom memory loss, has symptom lassitude, has symptom insomnia, has symptom blurred vision, has symptom weakness and wasting of shoulder-girdle and arm muscles, has symptom slowly progressive leg weakness with urinary or fecal incontinence or both, and has symptom paralysis of the legs due to thrombosis of spinal arteries.|MONDO|N|
CN281933|A paralytic poliomyelitis in which the site of paralysis is the spinal cord.|MONDO|N|
CN281934|A paralytic poliomyelitis in which the site of paralysis is the bulbospinal tract.|MONDO|N|
CN281936|A disease caused by infection with Barmah Forest virus.|MONDO|N|
CN281938|A tertiary syphilis that is characterized by granulomatous lesions, called gummas, which are characterized by a center of necrotic tissue with a rubbery texture. They form in the liver, bones, and testes but may affect any organ.|MONDO|N|
CN281946|A syndrome caused by HPIV-3.|MONDO|N|
CN282059|Diffuse cutaneous systemic sclerosis (dcSSc) is a subtype of Systemic Sclerosis (SSc; see this term) characterized by truncal and acral skin fibrosis with an early and significant incidence of diffuse involvement (interstitial lung disease, oliguric renal failure, diffuse gastrointestinal disease, and myocardial involvement).|ORDO|N|
CN282494|Familial multiple fibrofolliculoma is a genodermatosis characterized by the presence of multiple hamartomas of the hair follicle. It has been described in one family so far.|MONDO|N|
CN282543|Belinostat is a histone deacetylase (HDAC) inhibitor, approved for the treatment of relapsed or refractory peripheral T-cell lymphomas (PTCLs). Belinostat targets 3 classes of HDACs (I, II and IV), resulting in higher levels of acetylation of both histone and non-histone proteins, thus reversing the changes in protein acetylation that are frequently disrupted during oncogenesis. Belinostat is administered as an infusion at a rate of 1000 mg/m2 for 30 minutes on days 1–5 of a 21-day cycle. Belinostat has a relatively short half-life and is primarily metabolized by uridine diphosphate (UDP)-glucuronosyltransferase 1A1 (UGT1A1)-mediated glucuronidation, with minor contributions from other UGT and cytochrome P450 (CYP) enzymes. Genetic variation at the UGT1A1 locus can result in decreased enzyme activity and thus increased exposure to belinostat. The US Food and Drug Administration (FDA)-approved drug label recommends a 25% decrease in dose for individuals who are known to be homozygous for the UGT1A1*28 reduced function allele. Additional indications for dose reduction include grade 3 or 4 adverse reactions or significant decrease in neutrophil or platelet counts following belinostat administration. Some studies have suggested that other variant alleles may also lead to increased belinostat exposure, such as UGT1A1*60; however, no specific recommendations for dose reduction have been made for these alleles by either the FDA or other professional pharmacogenetic consortia. Belinostat should not be administered with other medications that can inhibit UGT1A1 function, such as nilotinib, ketoconazole, or ripretinib.|Medical Genetics Summaries|N|
CN282567|Oxcarbazepine is the keto-analog of carbamazepine, sharing many therapeutic indications such as epilepsy and other seizure disorders.  Like carbamazepine, oxcarbazepine can cause adverse reactions such as Stevens-Johnson syndrome (SJS) and toxic ep. The genetic variant HLA-B*15:02 is associated with the risk of SJS/TEN.  Patients who have at least one copy of the HLA-B*15:02 allele (considered HLA-B*15:02-positive) have a significantly increased risk for SJS/TEN compared to non-carriers, and it is recommended that they receive an alternate drug.   It is important to note that it is possible for a patient without HLA-B*15:02 to develop SJS/TEN.  Guidelines regarding the use of pharmacogenomic tests in dosing for carbamazepine have been published in Clinical Pharmacology and Therapeutics by the Clinical Pharmacogenetics Implementation Consortium (CPIC) and are available on the PharmGKB websites.|PharmGKB|N|
CN282573|Statins are among the most commonly prescribed drugs in the world to treat hypercholesterolemia and prevent cardiovascular diseases. They effectively lower cholesterol levels by inhibiting the HMG-CoA reductase to reduce cholesterol synthesis. Though well tolerated in general, the most common statin side effect is statin-associated musculoskeletal symptoms (SAMS) which range from myalgia, myopathy to fatal rhabdomyolysis, especially when statins are administered at higher doses and with certain other medications. Genetic variations in genes encoding the statin transporters, SLCO1B1 and ABCG2, and metabolizing enzyme, CYP2C9, have been shown to affect systemic plasma concentrations of statins and are associated with increased risk for SAMS. Guidelines regarding the use of pharmacogenomic tests in dosing for statins have been published in Clinical Pharmacology and Therapeutics by the Clinical Pharmacogenetics Implementation Consortium (CPIC) and are available on the CPIC and PharmGKB websites. The CPIC guideline provides specific therapeutic recommendations for simvastatin, atorvastatin, lovastatin, pravastatin and pitavastatin based on SLCO1B1 phenotype; rosuvastatin based on SLCO1B1 and ABCG2 phenotypes; and fluvastatin based on SLCO1B1 and CYP2C9 phenotypes. It serves as a guide for selecting the most appropriate statin and the optimal dose if pharmacogenetic test results are available.|PharmGKB|N|
CN282574|Siponimod is a sphingosine-1-phosphate (S1P) receptor modulator used in the treatment and management of relapsing forms of multiple sclerosis (MS) in adults. It works by targeting lymphocytes to decrease the number of circulating cells that are associated with MS symptomatic attacks and disease progression and may also have a direct neuroprotective impact. Siponimod strongly binds to the S1P type 1 and type 5 receptors that are abundantly expressed on lymphocytes and multiple other cell types in the central nervous system (CNS). Off-target interactions and effects on cardiac cells may occur, also. The use of a dose titration schedule is recommended to decrease the risk of bradycardia. This medication is approved for multiple forms of relapsing MS (RMS) in the United States and for active, secondary progressive disease in Europe and Canada.
Siponimod is metabolized by members of the cytochrome P450 family, specifically CYP2C9 and, to a lesser extent CYP3A4. The CYP2C9 gene is polymorphic and activity scores are used to categorize diplotype into phenotype. Decreased CYP2C9 metabolic activity is associated with increased exposure to siponimod and increased risk of adverse effects. Therefore, individuals with the CYP2C9*3/*3 diplotype (activity score = 0) are contraindicated from taking siponimod. Individuals with one copy of the no-function *3 allele (diplotype with activity scores of 0.5 or 1.0) are advised to take half the standard maintenance dose. Consideration of genotype and activity score is essential for CYP2C9-based siponimod dosing because labeled dose recommendations are not categorized by phenotype. In the US, there is a modified titration schedule for individuals with a CYP2C9*3 allele; however, the European prescribing guidelines do not modify the titration schedule for individuals with a single copy of the CYP2C9*3 allele (heterozygous for CYP2C9*3). The Dutch Pharmacogenetics Working Group (DPWG) of the Royal Dutch Association for the Advancement of Pharmacy similarly recommends a 50% reduced maintenance dosage for intermediate metabolizers (IM). It should be noted that dose recommendations in the Siponimod package label are limited to diplotypes consisting of only CYP2C9 *1,*2, and *3 alleles due to lack of clinical data on the impact of other decreased or no-function alleles, while other medication and testing guidelines also consider*5, *6, *8, and *11.|Medical Genetics Summaries|N|
CN282580|Serotonin reuptake inhibitor antidepressants, such as selective serotonin reuptake inhibitors (SSRIs), serotonin and norepinephrine reuptake inhibitors (SNRIs), and serotonin modulators with SSRI-like properties are pharmacotherapy options for major depressive and anxiety disorders. Inadequate response and treatment-related adverse events are known challenges in antidepressant therapy. Genetic variations in genes encoding the drug metabolizing enzymes, CYP2D6, CYP2C19 and CYP2B6, have been shown to alter antidepressant biotransformation, which may potentially affect dosing, efficacy, and tolerability.|PharmGKB|N|
CN283242|Vitamin D3 (cholecalciferol), synthesized in the epidermis in response to UV radiation, and dietary vitamin D2 (ergocalciferol, synthesized in plants) are devoid of any biologic activity. Vitamin D hormonal activity is due primarily to the hydroxylated metabolite of vitamin D3, 1-alpha,25-dihydroxyvitamin D3 (calcitriol), the actions of which are mediated by the vitamin D receptor (VDR; 601769) (Koren, 2006; Liberman and Marx, 2001).
In the liver, vitamin D 25-hydroxylase (CYP2R1; 608713) catalyzes the initial hydroxylation of vitamin D at carbon 25; in the kidney, 1-alpha-hydroxylase (CYP27B1; 609506) catalyzes the hydroxylation and metabolic activation of 25-hydroxyvitamin D3 into 1,25-dihydroxyvitamin D3. The active metabolite 1,25(OH)2D3 binds and activates the nuclear vitamin D receptor, with subsequent regulation of physiologic events such as calcium homeostasis and cellular differentiation and proliferation (Takeyama et al., 1997).
Disorders of vitamin D metabolism or action lead to defective bone mineralization and clinical features including intestinal malabsorption of calcium, hypocalcemia, secondary hyperparathyroidism, increased renal clearance of phosphorus, and hypophosphatemia. The combination of hypocalcemia and hypophosphatemia causes impaired mineralization of bone that results in rickets and osteomalacia (Liberman and Marx, 2001).
Genetic Heterogeneity of Vitamin D-Dependent Rickets
Vitamin D-dependent rickets type 1A (VDDR1A) is due to an enzymatic defect in synthesis of the active form of vitamin D caused by mutation in the CYP27B1 gene. VDDR1B (600081) is a form of rickets due to mutation in the gene encoding a vitamin D 25-hydroxylase (CYP2R1; 608713), another enzyme necessary for the synthesis of active vitamin D. Vitamin D-dependent rickets type 2A (VDDR2A; 277440) is caused by end-organ unresponsiveness of active vitamin D due to mutation in the gene encoding the vitamin D receptor (VDR; 601769). VDDR2B (600785) is an unusual form of end-organ unresponsiveness to active vitamin D due to an abnormal protein (see HNRNPC, 164020) that interferes with the function of the VDR. VDDR3 (619073) is a dominant form of VDDR caused by accelerated inactivation of vitamin D metabolites due to mutation in the CYP3A4 gene (124010).
Other Forms of Hypophosphatemic Rickets
For a discussion of other forms of hypophosphatemic rickets, see ADHR (193100).|OMIM|N|
CN283243|Erythropoietic protoporphyria (EPP) is an inherited disorder of the heme metabolic pathway characterized by accumulation of protoporphyrin in blood, erythrocytes and tissues, and cutaneous manifestations of photosensitivity.|ORDO|N|
CN293401|SCN1A seizure disorders encompass a spectrum that ranges from simple febrile seizures and generalized epilepsy with febrile seizures plus (GEFS+) at the mild end to Dravet syndrome and intractable childhood epilepsy with generalized tonic-clonic seizures (ICE-GTC) at the severe end. Phenotypes with intractable seizures including Dravet syndrome are often associated with cognitive decline. Less commonly observed phenotypes include myoclonic astatic epilepsy (MAE), Lennox-Gastaut syndrome, infantile spasms, epilepsy with focal seizures, and vaccine-related encephalopathy and seizures. The phenotype of SCN1A seizure disorders can vary even within the same family.|GeneReviews|N|
CN293505|A rare neuro-ophthalmological disease associating the typical optic atrophy with other extra-ocular manifestations such as sensorineural deafness, myopathy, chronic progressive external ophthalmoplegia, ataxia and peripheral neuropathy. More rarely, other manifestations have been associated with this condition, such as spastic paraplegia or multiple-sclerosis like illness.|ORDO|N|
CN293506|Autosomal recessive form of familial Mediterranean fever.|MONDO|N|
CN293514|EDMD is characterized by myopathic changes in certain skeletal muscles and early contractures at the neck, elbows, and Achilles tendons, as well as cardiac conduction defects. 'Classic' Emery-Dreifuss muscular dystrophy (EDMD1; 310300) is an X-linked disorder caused by mutation in the emerin gene (EMD; 300384) on Xq28 (Emery, 1989).
For a discussion of genetic heterogeneity of EDMD, see 310300.|OMIM|N|
CN293516|A rare inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. There are four complementation classes of cobalamin defects (cblC, cblD, cblF and cblJ) that are responsible for methylmalonic acidemia - homocystinuria (methylmalonic acidemia - homocystinuria cblC, cblD cblF and cblJ).|ORDO|N|
CN293564|Juvenile neuronal ceroid lipofuscinoses (JNCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) typically characterized by onset at early school age with vision loss due to retinopathy, seizures and the decline of mental and motor capacities.|ORDO|N|
CN293568|A rare developmental disorder characterized by facial, limbs and genital features, and a disproportionate acromelic short stature.|ORDO|N|
CN293569|Congenital myopathy-3 with rigid spine (CMYP3) is an autosomal recessive disorder of the skeletal muscle characterized by hypotonia and proximal muscle weakness apparent from birth or early childhood. Affected individuals show delayed motor development and develop progressive severe and deforming scoliosis ('rigid spine') in the first or second decades. Respiratory involvement due to diaphragmatic weakness is common, and most patients require ventilatory support due to nocturnal hypoventilation; recurrent respiratory infections are also observed. Additional features may include facial muscle weakness, amyotrophy, joint contractures, distal hyperlaxity, pulmonary hypertension with secondary cardiac dysfunction, and insulin resistance in those with a low BMI. The muscle weakness is not progressive, and most patients remain ambulatory. Skeletal muscle biopsy typically shows multiminicores, although there are often other abnormal nonspecific myopathic findings. This phenotype has been referred to as 'rigid spine syndrome' (Scoto et al., 2011; Fan et al., 2022; Varone et al., 2019).
For a discussion of genetic heterogeneity of congenital myopathy, see CMYP1A (117000).|OMIM|N|
CN293783|Arthrochalasia-type EDS is distinguished from other types of EDS by the frequency of congenital hip dislocation and extreme joint laxity with recurrent joint subluxations and minimal skin involvement (Byers et al., 1997; Giunta et al., 2008).
For a discussion of genetic heterogeneity of arthrochalasia-type EDS, see 130060.|OMIM|N|
CN293850|A congenital anomaly of the hand or foot, marked by the presence of supernumerary digits.|MONDO|N|
CN293886|Any Cowden disease in which the cause of the disease is a mutation in the SDHB gene.|MONDO|N|
CN293905|Familial progressive hyperpigmentation is a rare, genetic, skin pigmentation anomaly disorder characterized by irregular patches of hyperpigmented skin which present at birth or in early infancy and increase in size, number and confluence with age. Affected areas of the body include the face, neck, trunk and limbs, as well as the palms, soles, oral mucosa and conjuctiva. No hypogmentation macules are observed and no systemic diseases are associated.|ORDO|N|
CN293938|A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.|ORDO|N|
CN293942|Cataract-microcornea syndrome is characterized by the association of congenital cataract and microcornea without any other systemic anomaly or dysmorphism.|ORDO|N|
CN293951|A rare disorder characterized by degenerative changes in the limbic area of the brain. Causes include infections and autoimmune conditions; it may also manifest as a paraneoplastic syndrome, most often caused by small cell lung carcinoma. Signs and symptoms include behavioral changes, hallucinations and dementia.|MONDO|N|
CN293953|Neutral lipid storage disease (NLSD) refers to a group of diseases characterized by a deficit in the degradation of cytoplasmic triglycerides and their accumulation in cytoplasmic lipid vacuoles in most tissues of the body. The group is heterogeneous: currently cases of NLSD with icthyosis (NLSDI/Dorfman-Chanarin disease; see this term) and NLSD with myopathy (NLSDM/neutral lipid storage myopathy; see this term) can be distinguished.|ORDO|N|
CN293961|Mosaic trisomy 20 is a rare chromosomal anomaly syndrome with a highly variable phenotype ranging from normal (in the majority of cases) to a mild, subtle phenotype principally characterized by spinal abnormalities (i.e. stenosis, vertebral fusion, and kyphosis), hypotonia, lifelong constipation, sloped shoulders, skin pigmentation abnormalities (i.e. linear and whorled nevoid hypermelanosis) and significant learning disabilities despite normal intelligence. More severe phenotypes, with patients presenting psychomotor and speech delay, mild facial dysmorphism, cardiac (i.e. ventricular septal defect, dysplastic tricuspid mitral valve) and renal anomalies (e.g. horseshoe kidneys), have also been reported.|ORDO|N|
CN293971|A laryngo-tracheo-esophageal cleft (LC) is a congenital malformation characterized by an abnormal, posterior, sagittal communication between the larynx and the pharynx, possibly extending downward between the trachea and the esophagus.|ORDO|N|
CN293972|Immunodeficiency with factor H anomaly is a rare, genetic, primary immunodeficiency disease characterized by increased susceptibility to recurrent, usually severe, infections (particularly by <i> Neisseria meningitidis</i>, <i>Escherichia coli</i>, and <i>Haemophilus influenzae</i>), renal impairment and/or autoimmune diseases, typically manifesting with otitis media, bronchitis, meningitis, and/or septicemia, as well as hematuria/proteinuria, asthma, nephrotic syndrome, hemolytic uremic syndrome, glomerulonephritis, and/or systemic lupus erythematosus. Laboratory serum analysis reveals, in addition to factor H deficiency, decreased complement factor B, properdin, complement C3 and terminal complement components.|ORDO|N|
CN293995|A rare, slow-growing uterine cancer characterized, histologically, by small, well differentiated nests of basaloid cells resembling basal cell carcinoma of the skin, commonly associated with squamous cell carcinoma or squamous intraepithelial lesions. Patients are usually asymptomatic or present with dysfunctional vaginal bleeding, often with no observable lesion on the cervix. Infection with high-risk HPV-types (16 and 33) has been reported in some cases.|ORDO|N|
CN294009|A rare genetic neurological disorder characterized by postnatal onset of severe global developmental delay, profound mental retardation, progressive microcephaly, progressive spasticity evolving into spastic quadriplegia with joint contractures, generalized seizures, and irritability. Severe choreoathetosis and dysmorphic features are absent. Brain imaging shows progressive cerebellar atrophy followed by cerebral atrophy affecting both white and grey matter, but no pontine involvement.|ORDO|N|
CN294033|Neuroacanthocytosis (NA) syndromes are a group of genetic diseases characterized by the association of red blood cell acanthocytosis (deformed erythrocytes with spike-like protrusions) and progressive degeneration of the basal ganglia.|ORDO|N|
CN294037|A megalencephaly (disease) that is not part of a larger syndrome.|MONDO|N|
CN294045|Patients with SSFSC1 have short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies. Distinctive facial features include midface retrusion, short upturned nose, long philtrum, high-arched or cleft palate, and variable degrees of micrognathia and dental crowding. Skeletal anomalies include patterning defects of the axial skeleton, characterized by 11 pairs of ribs and brachydactyly of the fifth ray. Congenital heart defects are variably observed and appear to involve primarily the cardiac outflow tract (Tan et al., 2017).
Genetic Heterogeneity of Short Stature, Facial Dysmorphism, and Skeletal Anomalies With or Without Cardiac Anomalies
SSFSC2 (619184) is caused by mutation in the SCUBE3 gene (614708) on chromosome 6p21.|OMIM|N|
CN294085|X-linked form of inherited ichthyosis syndromic form.|MONDO|N|
CN294086|Infantile glycerol kinase deficiency (GKD) is a severe form of GKD characterized clinically by poor feeding, failure to thrive, salt-wasting dehydration, vomiting, Addisonian pigmentation, hypotonia, and disorders of consciousness. Some patients have complex GKD associated with adrenal hypoplasia congenita and/or Duchenne muscular dystrophy (DMD) with manifestations including intellectual deficit, dysmorphic facial features, abnormal external genitalia, strabismus, seizures, and progressive lethargy.|MONDO|N|
CN294090|Lymphoepithelial-like carcinoma is a rare, malignant epithelial tumor, composed of undifferentiated epithelial cells with dense lymphoid stroma, mimicking lymphoepithelioma. It often shows association with Epstein-Barr virus infection and can develop in various organs, such as the nasopharynx, stomach, skin, breast and lungs, among others. The presenting symptoms, as well as the radiologic features, are usually nonspecific and depend on the affected site and organ.|ORDO|N|
CN294093|A rare disease caused by compression of the celiac axis by an abnormally shaped arcuate ligament (the part of the diaphragm in which both pillars join in the midline around the aorta). Patients have recurrent abdominal pain, anorexia and weight loss. The pain is epigastric, and diarrhea or constipation may be present as well. Onset of pain will usually, although not always, be after food intake, and may be associated with nausea and emesis. Other symptoms may include lassitude, exercise intolerance and vomiting. Occasionally, a patient may show an abdominal murmur upon auscultation.|ORDO|N|
CN294096|A group of rare genetic disorders characterized by the presence of joint contractures and multiple soft tissue webs (pterygia) across the neck and various joints, as well as typical facial appearance and a variety of other congenital anomalies. Both lethal (lethal and X-linked lethal multiple pterygium syndrome) and non-lethal (autosomal recessive and autosomal dominant multiple pterygium syndrome) forms occur.|ORDO|N|
CN294108|An inherited metabolic disease that is has its basis in the disruption of porphyrin-containing compound metabolic process.|MONDO|N|
CN294146|Isolated glycerol kinase deficiency (GKD) is a very rare X-linked disorder of glycerol metabolism characterized biochemically by elevated plasma and urine glycerol levels, and clinically by variable neurometabolic manifestations, depending on the age of onset, and varying from a life-threatening childhood metabolic crisis to an asymptomatic adult form (infantile GKD, juvenile GKD, and adult GKD (see these terms)).|ORDO|N|
CN294154|A rare genetic interstitial lung disease characterized by diffuse lung disease of variable phenotype ranging from severe respiratory insufficiency in infancy to asymptomatic adults, due to surfactant protein C deficiency. Typical presentation in infancy includes dyspnea, cough, wheezing, and gradual cyanosis, with or without failure to thrive. Radiological findings include diffuse ground-glass opacities in neonates, later interstitial thickening associated with lung hyperinflation, intraparenchymal/subpleural cysts, honeycombing, subpleural nodules, or bronchiectasis. Infiltrates and air leaks are frequent complications.|ORDO|N|
CN294157|A rare, congenital, esophageal malformation characterized by the presence of an abnormal connection between the esophagus and the trachea (typically occurring in the lower cervical or upper thoracic area and taking an oblique path upward to trachea), without concomitant esophageal atresia. Depending on the size of the lumen, presentation varies from neonatal episodes of choking and cyanosis on feeding to subtle symptoms of wheezing and recurrent respiratory infections in childhood or early adulthood.|ORDO|N|
CN294158|A rare mitochondrial disease characterized by a variable phenotype comprising congenital sensorineural deafness, intermittent or persistent hypoglycemia, and hepatic and renal dysfunction potentially progressing to organ failure. Serum lactate levels are variably increased, deficiency of mitochondrial respiratory chain complexes I, III, and IV is observed in the liver and in fibroblasts.|ORDO|N|
CN294173|A rare multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, growth retardation, hearing impairment, characteristic facial dysmorphology (including prominent supraorbital ridges, downslanting palpebral fissures, deep-set eyes, long face, sagging cheeks, anteverted nares, and pointed chin), generalized hypotonia, joint hypermobility, gluteal crease with sacral caudal remnant and sacral dimple, and variable neurological features. Various ophthalmic, cutaneous, musculoskeletal, gastrointestinal, and cardiovascular anomalies have also been described.|ORDO|N|
CN294174|PYCR2-related microcephaly-progressive leukoencephalopathy is a rare, genetic, syndromic intellectual disability disorder characterized by progressive postnatal microcephaly, cerebral hypomyelination and severe psychomotor developmental delayed with absent speech, as well as axial hypotonia, appendicular hypertonia with hyperextensibility of the wrists and ankles, hyperreflexia, severe muscle wasting and failure to thrive. Associated craniofacial dysmorphism includes triangular facies with bitemporal narrowing, down- or upslanting palpebral fissures, malar hypoplasia, large malformed ears with overfolded helices, upturned bulbous nose, long smooth philtrum and thin vermilion borders.|ORDO|N|
CN294179|An extended form of Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome characterized by destruction and detachment of the skin epithelium and mucous membranes involving more than 30% of the body surface area.|ORDO|N|
CN294181|A rare chromosomal anomaly which causes a congenital malformation disorder that is typically characterized by cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency.|ORDO|N|
CN294186|A disorder that is characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain.|ORDO|N|
CN294187|An inherited disorder characterized by structural alterations of a globin chain within the hemoglobin molecule.|MONDO|N|
CN294189|A rare primary glomerulopathy of unknown cause characterized by edema, nephrotic-range proteinuria and hypoalbuminemia that responds to standard prednisone treatment within 4-6 weeks.|ORDO|N|
CN294193|Retinal cavernous hemangioma is a rare, benign, usually unilateral retinal vascular hamartoma that in most cases is asymptomatic but in some patients may present with blurred vision or floaters and that is characterized by the presence of grape-like vacuoles.|ORDO|N|
CN294204|Isolated congenital anonychia is characterized by nail abnormalities ranging from onychodystrophy (dystrophic nails) to anonychia (absence of nails). Onychodystrophy-anonychia has been described in at least four generations of a family with male-to-male transmission, suggesting autosomal dominant transmission. Anonychia has been described in approximately less than 20 cases; it is likely to be transmitted as an autosomal recessive trait. Total anonychia congenita, in which all the fingernails and toenails are absent, may have an autosomal dominant inheritance pattern.|ORDO|N|
CN294207|An inherited metabolic disease that is has its basis in the disruption of purine nucleobase metabolic process.|MONDO|N|
CN294217|Portal vein thrombosis (PVT) is associated with acute (recent) or chronic (long-standing) thrombosis of the portal system.|ORDO|N|
CN294226|A rare benign liver tumor characterized by a prominent inflammatory infiltrate and often mimicking a malignant liver neoplasm. The tumor is frequently solitary with a predilection for the right lobe; however, multiple lesions are possible. There are two clinicopathological subtypes: fibrohistiocytic inflammatory pseudotumor of the liver and lymphoplasmacytic inflammatory pseudotumor of the liver. Patients present with non-specific clinical symptoms such as abdominal pain or discomfort, fever, and weight loss. The condition may be associated with other chronic inflammatory or autoimmune diseases.|ORDO|N|
CN294232|A generalized connective tissue disorder characterized by the association of wrinkled, redundant and sagging inelastic skin with severe systemic manifestations (lung atelectesias and emphysema, vascular anomalies, and gastrointestinal and genitourinary tract diverticuli).|ORDO|N|
CN294233|Hypotrichosis simplex of the scalp (HSS) is characterized by diffuse progressive hair loss that is confined to the scalp.|ORDO|N|
CN294234|A rare pituitary tumor originating from normally hormone-producing cells of the adenohypophysis, characterized by a sellar or extrasellar mass manifesting with clinical signs secondary to mass effect, but without evidence for hormonal hypersecretion. Typical manifestations are visual disturbances, headaches, cranial nerve dysfunction, and hypopituitarism but the mass may also be discovered incidentally.|ORDO|N|
CN294250|A rare neuroendocrine neoplasm characterized by origin from pulmonary neuroendocrine cells and ranging from low-grade typical carcinoid and intermediate-grade atypical carcinoid to high-grade large-cell neuroendocrine carcinoma and small-cell carcinoma. Two thirds of the tumors are located in the major bronchi, with a predilection for the right lung, in particular the middle lobe. Most patients with central bronchial tumors present with hemoptysis, cough, recurrent pulmonary infections, fever, chest discomfort, and unilateral wheezing, while peripheral carcinoids are usually discovered only incidentally. Carcinoid syndrome or Cushing syndrome are very rare. The tumors may be part of multiple endocrine neoplasia type 1.|ORDO|N|
CN294251|A rare soft tissue tumor characterized by a slowly growing mass typically involving tendons and aponeuroses of the extremities, composed of polygonal or spindle-shaped cells with melanocytic differentiation. The tumor typically affects young adults, who often present with pain or tenderness at the tumor site. Prognosis is poor with high recurrence rates and frequent metastasis, especially to lymph nodes, lung, and bones.|ORDO|N|
CN294254|Clonal myeloid disorders that possess both dysplastic and proliferative features but are not properly classified as either MYELODYSPLASTIC SYNDROMES or MYELOPROLIFERATIVE disorderS.|MONDO|N|
CN294276|A rare acute lymphoblastic leukemia characterized by a neoplasm of lymphoblasts committed to the T-cell lineage, involving bone marrow and blood. A value of >25% bone marrow blasts may be used to define leukemia (as opposed to lymphoma) in cases with the presence of a mass lesion in addition to bone marrow involvement. Patients typically present with leukocytosis, and frequently with a large mediastinal or other tissue mass. Lymphadenopathy and hepatosplenomegaly are common.|ORDO|N|
CN294278|A form of endogenous Cushing syndrome (CS) that may result from excess secretion of cortisol by either a unilateral and benign (adrenocortical adenoma: 55-60%) or malignant (adrenocortical carcinoma: 35-40 %) adrenocortical tumor or by bilateral adrenal secretion by macronodular adrenal hyperplasia (AIMAH), as an isolated disease or as part of McCune-Albright syndrome (MAS), or by primary pigmented nodular adrenocortical disease (PPNAD), as an isolated disease or as part of Carney complex (CNC).|ORDO|N|
CN294281|A rare inflammatory eye disease characterized by sub-epithelial blistering manifesting with bilateral, asymmetrical, chronic or recurrent conjunctivitis and aberrant tissue regeneration leading to progressive conjunctival fibrosis, secondary corneal vascularization and, in some cases, blindness. Patients typically present with conjunctival redness, increased lacrimation, burning and/or foreign body sensation, edema, limbitis and/or varying degrees of ocular pain. Ankyloblepharon may be observed in end stages of the disease.|ORDO|N|
CN294317|A complex group of benign and malignant cerebral tumors arising at any age.|ORDO|N|
CN294483|A disease involving the muscle tissue.|MONDO|N|
CN294497|Hodgkin lymphoma (HL) is a heterogeneous group of malignant lymphoid neoplasms of B-cell origin characterized histologically by the presence of Hodgkin and Reed-Sternberg (HRS) cells in the vast majority of cases.|ORDO|N|
CN294567|Acute myeloid leukemias, myelodysplastic syndromes, and myelodysplastic/myeloproliferative neoplasms arising as a result of the mutagenic effect of chemotherapy agents and/or radiation that are used for the treatment of neoplastic or non-neoplastic disorders.|MONDO|N|
CN294618|A rare inherited skin cancer syndrome characterized by the coexistence of features typical of both multiple self-healing squamous epithelioma and generalized eruptive keratoacanthoma, such as multiple small miliary-type lesions, larger self-healing lesions, and nodulo-ulcerative lesions. Lesions do not have a predilection for the mucosal surfaces.|ORDO|N|
CN294624|An extremely rare syndromic lymphedema disorder characterized by early-onset hypotrichosis, childhood-onset lymphedema, and variable telangiectasia, particularly of the palms.|ORDO|N|
CN294741|A disease that has its basis in the disruption of pyrimidine nucleobase metabolic process.|MONDO|N|
CN294759|A rare autosomal recessive axonal hereditary motor and sensory neuropathy characterized by adult onset of slowly progressive distal muscle weakness and atrophy, sensory impairment, and decreased or absent deep tendon reflexes predominantly in the lower extremities. Patients present gait disturbances but remain ambulatory. Mild involvement of the upper limbs may be seen.|ORDO|N|
CN294762|A rare multiple congenital anomalies/dysmorphic syndrome characterized by a large omphalocele containing liver and small intestine, diaphragmatic hernia, cardiovascular anomalies (e. g. aortic coarctation), variable limb malformations (including radioulnar synostosis, agenesis of the radius and/or thumb, generalized syndactyly, and numerical reduction of toes), and dysmorphic facial features. Additional reported manifestations are unilateral absence of umbilical artery, intestinal malrotation, hypoplastic ovaries, and unilateral renal agenesis, among others. The condition is mostly fatal in the neonatal period.|ORDO|N|
CN294779|A genetic focal epilepsy, with focal sensory auditory seizures seen in family members. Seizures often comprise such mild symptoms that they are undiagnosed. There are no implications expected for development or learning and seizures are typically infrequent and well controlled.|MONDO|N|
CN294783|Any congenital myopathy in which the cause of the disease is a mutation in the SCN4A gene. It include is a spectrum of autosomal recessive disorders including congenital myasthenic syndrome, fetal hypokinesia, and congenital myopathy.|MONDO|N|
CN294784|Ab X-linked syndromic intellectual disability in which the cause of the disease is a mutation in the NAA10 gene. Patients with variants in the NAA10 gene demonstrate symptoms such as developmental delay, intellectual disability, autism spectrum disorder, hypotonia, facial dysmorphism, cardiac anomalies, and/or skeletal anomalies.|MONDO|N|
CN294785|A perceptual disorder caused by intoxication with hallucinogen drugs, especially LSD. It is characterized by the recurrence of perceptive disturbances that first develop during intoxication. The contents of the perception and visual imagery range extensively and symptoms may include visual disturbances, hallucinations, and psychoses.|MONDO|N|
CN294786|An inborn error of proline/orinthine metabolism that covers a wide spectrum of phenotypes and is caused by pathogenic variants in the aldehyde dehydrogenase 18 family member A1 (ALDH18A1) gene. These variants lead to a variety of neurocutaneous and motor syndromes characterized by cutis laxa, connective tissue weakness, facial dysmorphism, growth restriction, developmental delay, cataracts, hypotonia, hypertonia, and amyotrophy.|MONDO|N|
CN294788|Acute respiratory distress syndromet that occurs in pediatric patients and includes findings of new infiltrates (unilateral or bilateral) consistent with acute parenchymal disease, edema not fully explained by fluid overload or cardiac failure, and may present as new acute lung disease in setting of chronic lung disease and/or heart disease, and perinatal lung disease is excluded.|MONDO|N|
CN294789|An adenosquamous carcinoma that arises from the intrahepatic bile ducts.|MONDO|N|
CN294792|A mitochondrial myopathy caused by defects in the MICOS subunit gene APOO (MIC26). Modelling in yeast and flies demonstrate an inability to insert MICOS complex into the inner mitohondrial membrane. Associated symptoms include, lactic acidosis, cognitive impairment and autistic features.|MONDO|N|
CN294803|A tubulinopathy with material basis in TUBB2B that is characterized by variations in R390Q, quadrupedal locomotion, cerebellar hypoplasia and does not have basal ganglia malformations.|MONDO|N|
CN294805|Variants in the gene ATP6AP2 have been associated with a multitude of diseases, including X-linked syndromic ID Hedera type, X-linked Parkinsonism-spasticity syndrome, and congenital disorder of glycosylation type 2R. Phenotypes include global developmental delay, intellectual disability, progressive neurologic decline, spasticity, seizures, infantile onset of liver failure, recurrent infections, dysmorphic features, and features of parkinsonism (rigidity, resting tremor, bradykinesia). These phenotypes do not appear in all individuals with one of the above disease assertions, but many are overlapping phenotypes.|MONDO|N|
CN294806|A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by moderate to severe developmental delay/intellectual disability with absent or limited speech development, various behavioral problems (including autistic features, hyperactivity, or aggressiveness), and craniofacial anomalies such as long face, high and prominent forehead, bulbous nose with low-hanging columella, thin vermillion of the upper lip, palatal (cleft palate, high-arched palate, and bifid uvula) and dental (abnormal upper incisors) abnormalities, and micrognathia. Hypotonia and feeding difficulties are frequent. Other supportive findings may include skeletal anomalies with low bone density and abnormal brain imaging.|ORDO|N|
CN294807|A complex neurodevelopmental disorder that is transmitted via X-linked inheritance, and is characterized by intellectual disability, autism and epilepsy.|MONDO|N|
CN294808|Any dyskeratosis congenita in which the cause of the disease is a mutation in the DKC1 gene.|MONDO|N|
CN294811|A inflammatory syndrome in children infected by the SARS-CoV-2 with similarities to Kawasaki disease. Clinical manifestations range from fever and inflammation to myocardial injury, shock, and development of coronary artery aneurysms.|MONDO|N|
CN294812|A disorder of the musculoskeletal system caused by pathogenic variants in the TTN gene encoding the titin protein expressed in striated muscle. These variants are associated with a variety of overlapping congenital and adult-onset myopathies characterized by non-progressive or progressive neck, axial, and limb weakness, joint contractures, early-onset respiratory insufficiency, facial weakness, congenital cardiac anomalies and/or early-onset dilated cardiomyopathy. Histologic findings on skeletal muscle biopsy reveal a wide range of structural abnormalities and can include increased internalized and central nuclei, minicores, and dystrophic changes.|MONDO|N|
CN294813|A genetic disorder associated with variation(s) in the AP4 genes: AP4B1, AP4E1, AP4M1, and AP4S1. The phenotypes observed in individuals with genetic variants in these genes are often complex and include intellectual disability, spastic paraplegia, microcephaly, brain abnormalities, and seizures.|MONDO|N|
CN294815|A hypoalphalipoproteinemia that is has its basis in the disruption of ApoA-I and ApoC-III.|MONDO|N|
CN294816|A severe early presentation of osteoporosis in which young women experience low trauma or spontaneous fractures, most commonly vertebral fractures, during late pregnancy or lactation.|MONDO|N|
CN294817|An X-linked intellectual disability in which the cause of the disease is a mutation in the SOX3 gene, with variable phenotypes including growth hormone deficiency due to hypopituitarism. It is undetermined if SOX3 is the only gene associated with this disease.|MONDO|N|
CN294818|A congenital myopathy of the musculoskeletal system that covers a wide spectrum of phenotypes and is caused by pathogenic variants in the skeletal muscle beta-Tropomyosin gene. These variants lead to a variety of overlapping adult onset and congenital myopathies characterized by muscle weakness, amyotrophy, hypotonia, myopathic facies, scoliosis, and sometimes contractures among other phenotypes. Histologic findings on skeletal muscle biopsy are variable with nemaline and intranuclear bodies, cap-like lesions, core-like lesions, fiber-type disproportion, and dystrophic features all observed to some degree.|MONDO|N|
CN294819|A disease caused by infection with parainfluenza virus. There are four serotypes which cause respiratory illnesses in children and adults.|MONDO|N|
CN294820|A disease caused by infection with parainfluenza virus type 1.|MONDO|N|
CN294821|A disease caused by infection with parainfluenza virus type 2.|MONDO|N|
CN294822|A disease caused by infection with parainfluenza virus type 4.|MONDO|N|
CN294825|Any immune dysregulation disease in which the cause of the disease is a mutation in the TNFAIP3 gene.|MONDO|N|
CN295219|The Ehlers-Danlos syndromes (EDS) are a group of heritable connective tissue disorders that share the common features of skin hyperextensibility, articular hypermobility, and tissue fragility (Beighton et al., 1998).
The major characteristics of the musculocontractural form of EDS include distinctive craniofacial dysmorphism, congenital contractures of thumbs and fingers, clubfeet, severe kyphoscoliosis, muscular hypotonia, hyperextensible thin skin with easy bruisability and atrophic scarring, wrinkled palms, joint hypermobility, and ocular involvement (summary by Malfait et al., 2010).
Janecke et al. (2015) reviewed the clinical findings in 34 reported EDSMC patients, 31 with CHST14 mutations and 3 with DSE (605942) mutations (see 615539), and stated that the disorder can be recognized based on the presence of distal arthrogryposis, including adducted thumbs or clenched fists and talipes equinovarus, as well as hands with atypically shallow palmar creases and tapering fingers, and neonatal muscular hypotonia. Characteristic craniofacial features include brachycephaly, large fontanel, hypertelorism, downslanting palpebral fissures, microcorneae, strabismus, prominent nasolabial folds, short philtrum, thin upper lip, small mouth, high palate, microretrognathia, and prominent and often low-set and posteriorly rotated ears. In addition, EDSMC patients show muscular hypoplasia and weakness, which has been confirmed by ultrasound and electromyography, and intellectual development appears to be normal.
Genetic Heterogeneity of Musculocontractural Ehlers-Danlos Syndrome
Ehlers-Danlos syndrome musculocontractural type 2 (EDSMC2; 615539) is caused by mutation in the DSE gene (605942) on chromosome 6q22.|OMIM|N|
CN295263|A group of rare neurodegenerative diseases characterized by the accumulation of prions, abnormal variants of the cellular prion protein, primarily in brain tissue of affected individuals, as well as massive, rapid neuronal death, and an invariably fatal course. Human prion diseases most often occur sporadically but may also be of genetic origin or infectiously acquired. Irrespective of etiology, they are transmissible to other individuals.|ORDO|N|
CN295279|A musculoskeletal system disorder that covers a wide spectrum of phenotypes and is caused by pathogenic variants in the skeletal muscle a-actin gene (ACTA1). These variants lead to a variety of overlapping adult onset and congenital myopathies characterized by muscle weakness, hypotonia, myopathic face, respiratory dysfunction, and rarely cardiac involvement. Specific skeletal muscle structural lesions visible on muscle biopsy include actin accumulations, nemaline and intranuclear bodies, fiber-type disproportion, cores, caps, dystrophic features and zebra bodies. Disorders associated with ACTA1 pathogenic variants can have autosomal dominant (90%) or recessive (10%) inheritance.|MONDO|N|
CN295299|Citrin deficiency can manifest in newborns or infants as neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD), in older children as failure to thrive and dyslipidemia caused by citrin deficiency (FTTDCD), and in adults as recurrent hyperammonemia with neuropsychiatric symptoms in citrullinemia type II (CTLN2). Often citrin deficiency is characterized by strong preference for protein-rich and/or lipid-rich foods and aversion to carbohydrate-rich foods. NICCD. Children younger than age one year have a history of low birth weight with growth restriction and transient intrahepatic cholestasis, hepatomegaly, diffuse fatty liver, and parenchymal cellular infiltration associated with hepatic fibrosis, variable liver dysfunction, hypoproteinemia, decreased coagulation factors, hemolytic anemia, and/or hypoglycemia. NICCD is generally not severe and symptoms often resolve by age one year with appropriate treatment, although liver transplantation has been required in rare instances. FTTDCD. Beyond age one year, many children with citrin deficiency develop a protein-rich and/or lipid-rich food preference and aversion to carbohydrate-rich foods. Clinical abnormalities may include growth restriction, hypoglycemia, pancreatitis, severe fatigue, anorexia, and impaired quality of life. Laboratory changes are dyslipidemia, increased lactate-to-pyruvate ratio, higher levels of urinary oxidative stress markers, and considerable deviation in tricarboxylic acid (TCA) cycle metabolites. One or more decades later, some individuals with NICCD or FTTDCD develop CTLN2. CTLN2. Presentation is sudden and usually between ages 20 and 50 years. Manifestations are recurrent hyperammonemia with neuropsychiatric symptoms including nocturnal delirium, aggression, irritability, hyperactivity, delusions, disorientation, restlessness, drowsiness, loss of memory, flapping tremor, convulsive seizures, and coma. Symptoms are often provoked by alcohol and sugar intake, medication, and/or surgery. Affected individuals may or may not have a prior history of NICCD or FTTDCD.|GeneReviews|N|
CN295305|Autosomal dominant immunodeficiency-14A with lymphoproliferation (IMD14A) is a primary immunodeficiency characterized by onset of recurrent sinopulmonary and other infections in early childhood. Laboratory studies show defects in both B- and T-cell populations, with an inability to control infection with Epstein Barr-virus (EBV) and cytomegalovirus (CMV). Patient CD8+ T cells are skewed toward differentiation and senescence. Many patients develop lymphadenopathy, mucosal lymphoid aggregates, and/or increased serum IgM. There is also an increased susceptibility to B-cell lymphomas (summary by Lucas et al., 2014).|OMIM|N|
CN295306|Myoclonus-dystonia syndrome (MDS) is a rare movement disorder characterized by mild to moderate dystonia along with 'lightning-like' myoclonic jerks.|ORDO|N|
CN295307|A rare variety of migraine with aura characterized by the presence of a motor weakness during the aura. There are two main forms depending on the familial history: patients with at least one first- or second-degree relative who has aura including motor weakness have familial hemiplegic migraine (FHM); patients without such familial history have sporadic hemiplegic migraine (SHM).|ORDO|N|
CN295308|Isolated aniridia is a congenital bilateral ocular malformation characterized by the complete or partial absence of the iris.|ORDO|N|
CN295869|Any vitelliform macular dystrophy in which the cause of the disease is a mutation in the PRPH2 gene.|MONDO|N|
CN295985|A cataract that has material basis in variation in the region 17q24.|MONDO|N|
CN296244|A malignant neoplasm involving the pancreas.|MONDO|N|
CN296287|A malignant neoplasm involving the bile duct|MONDO|N|
CN296401|An instance of intrahepatic cholestasis that is caused by an inherited modification of the individual's genome.|MONDO|N|
CN296404|A group of genetic, renal phosphate wasting disorders characterized by hypophosphatemia, rickets, and normal serum levels of calcium. Characteristic clinical features include slow growth/short stature, bone pain and bone deformities.|ORDO|N|
CN296406|Most commonly, IRF6-related disorders span a spectrum from isolated cleft lip and palate and Van der Woude syndrome (VWS) at the mild end to popliteal pterygium syndrome (PPS) at the more severe end. In rare instances, IRF6 pathogenic variants have also been reported in individuals with nonsyndromic orofacial cleft (18/3,811; 0.47%) and in individuals with spina bifida (2/192). Individuals with VWS show one or more of the following anomalies: Congenital, usually bilateral, paramedian lower-lip fistulae (pits) or sometimes small mounds with a sinus tract leading from a mucous gland of the lip. Cleft lip (CL). Cleft palate (CP). Note: Cleft lip with or without cleft palate (CL±P) is observed about twice as often as CP only. Submucous cleft palate (SMCP). The PPS phenotype includes the following: CL±P. Fistulae of the lower lip. Webbing of the skin extending from the ischial tuberosities to the heels. In males: bifid scrotum and cryptorchidism. In females: hypoplasia of the labia majora. Syndactyly of fingers and/or toes. Anomalies of the skin around the nails. A characteristic pyramidal fold of skin overlying the nail of the hallux (almost pathognomonic). In some nonclassic forms of PPS: filiform synechiae connecting the upper and lower jaws (syngnathia) or the upper and lower eyelids (ankyloblepharon). Other musculoskeletal anomalies may include spina bifida occulta, talipes equinovarus, digital reduction, bifid ribs, and short sternum. In VWS, PPS, IRF6-related neural tube defect, and IRF6-related orofacial cleft, growth and intelligence are typical.|GeneReviews|N|
CN296409|A carcinoma involving a adrenal gland.|MONDO|N|
CN296453|Waardenburg-Shah syndrome (WSS), also known as Waardenburg syndrome type 4 (WS4) is characterized by the association of Waardenburg syndrome (sensorineural hearing loss and pigmentary abnormalities) and Hirschsprung disease (aganglionic megacolon).|ORDO|N|
CN296487|Rippling muscle disease is a rare, genetic, neuromuscular disorder characterized by muscle hyperirritability triggered by stretch, percussion or movement. Patients present wave-like, electrically-silent muscle contractions (rippling), muscle mounding, painful muscle stiffness and muscle hypertrophy, usually with elevated serum creatine kinase.|ORDO|N|
CN296488|A polygenic and multifactorial disease that develops as a result of a complex interplay between genetic susceptibility and environmental and endogenous factors, which leads to the loss of immune tolerance to thyroid antigens and in particular to the TSH receptor.|MONDO|N|
CN296504|The acquired form of RMD. Although RMD most often is reported with autosomal dominant inheritance, some sporadic cases are found, and an association with other diseases such as myasthenia gravis has also been reported.|MONDO|N|
CN296585|CYLD cutaneous syndrome (CCS) typically manifests in the second or third decade with the appearance of multiple skin tumors including cylindromas, spiradenomas, trichoepitheliomas, and rarely, membranous basal cell adenoma of the salivary gland. The first tumor typically develops at puberty and tumors progressively accumulate through adulthood. Females often have more tumors than males. Tumors typically arise on the scalp and face but can also arise on the torso and sun-protected sites, such as the genital and axillary skin. A minority of individuals develop salivary gland tumors. Rarely, pulmonary cylindromas can develop in large airways and compromise breathing. Although the tumors are usually benign, malignant transformation is recognized.|GeneReviews|N|
CN296780|Hydroxychloroquine, which is closely related to chloroquine, can be used for the prevention and treatment of some forms of malaria and rheumatic conditions such as systemic lupus erythematosus (SLE) and rheumatoid arthritis. Malaria is an infection caused by the Plasmodium parasite, transmitted via mosquito bites. Hydroxychloroquine sulfate is indicated for the prevention and treatment of uncomplicated malaria due to sensitive strains of Plasmodium falciparum (P. falciparum), Plasmodium vivax (P. vivax), Plasmodium malariae (P. malariae), Plasmodium ovale (P. ovale), and Plasmodium knowlesi (P. knowlesi) by both the US Centers for Disease Control (CDC) and World Health Organization (WHO). Resistance to chloroquine and hydroxychloroquine has been reported in Plasmodium species, thus hydroxychloroquine therapy is not recommended if the infection arose in a region with known resistance. Most P. falciparum infections are resistant to the 4-aminoquinolines (chloroquine and hydroxychloroquine), and as such these drugs are no longer used widely for these infections. Hydroxychloroquine must be co-administered with an 8-aminoquinoline compound for the radical cure of P. vivax or P. ovale infection to eliminate the hypnozoite forms of these parasites. Additionally, hydroxychloroquine is indicated for the treatment of many rheumatoid conditions in adults, including chronic discoid lupus erythematosus, systemic lupus erythematosus, as well as acute and chronic rheumatoid arthritis. Hydroxychloroquine has also been used in an off-label capacity for the management of Sjögren syndrome.
Hydroxychloroquine accumulates in cellular acidic compartments such as the parasitic food vacuole and mammalian lysosomes, leading to alkalinization of these structures. Among antimalarial medications, hydroxychloroquine is less likely than other medicines to cause hemolysis in glucose-6-phosphate dehydrogenase (G6PD)-deficient individuals; however, the U.S. FDA-approved drug label states there is still a risk of acute hemolytic anemia (AHA). In contrast, the Clinical Pharmacogenetics Implementation Consortium (CPIC) performed a systematic review of the available clinical literature and found low-to-no risk of AHA for individuals with G6PD deficiency who take hydroxychloroquine. It should be noted that G6PD deficiency has a range of severity; CPIC advises caution for all medications when used by an individual with a severe G6PD deficiency with chronic non-spherocytic hemolytic anemia (CNSHA). Regardless of G6PD phenotype, chronic use of hydroxychloroquine can cause irreversible retinal damage and regular visual exams are recommended by the FDA.|Medical Genetics Summaries|N|
CN296789|Klippel-Feil Syndrome is characterised by improper segmentation of cervical segments resulting in congenitally fused cervical vertebrae.|ORDO|N|
CN296805|Infants with congenital short bowel syndrome (CSBS) are born with a shortened small intestine, with a mean length of 50 cm compared to the normal length of 190 to 280 cm, and intestinal malrotation. Severe malnutrition develops as a result of the hugely reduced absorptive surface of the small intestine, and infants require parenteral nutrition for survival; however, parenteral nutrition itself causes life-threatening complications such as sepsis and liver failure which are associated with a high rate of mortality early in life (summary by van der Werf et al., 2012).
A possible form of congenital short bowel syndrome (see 300048) is caused by mutation in the FLNA gene (300017) on chromosome Xq28.|OMIM|N|
CN296942|A monogenic disease that has material basis in mutation in the CDKL5 gene.|MONDO|N|
CN297063|A monogenic disease that has material basis in mutation in the FOXG1 gene.|MONDO|N|
CN298397|Statins are among the most commonly prescribed drugs in the world to treat hypercholesterolemia and prevent cardiovascular diseases. They effectively lower cholesterol levels by inhibiting the HMG-CoA reductase to reduce cholesterol synthesis. Though well tolerated in general, the most common statin side effect is statin-associated musculoskeletal symptoms (SAMS) which range from myalgia, myopathy to fatal rhabdomyolysis, especially when statins are administered at higher doses and with certain other medications. Genetic variations in genes encoding the statin transporters, SLCO1B1 and ABCG2, and metabolizing enzyme, CYP2C9, have been shown to affect systemic plasma concentrations of statins and are associated with increased risk for SAMS. Guidelines regarding the use of pharmacogenomic tests in dosing for statins have been published in Clinical Pharmacology and Therapeutics by the Clinical Pharmacogenetics Implementation Consortium (CPIC) and are available on the CPIC and PharmGKB websites. The CPIC guideline provides specific therapeutic recommendations for simvastatin, atorvastatin, lovastatin, pravastatin and pitavastatin based on SLCO1B1 phenotype; rosuvastatin based on SLCO1B1 and ABCG2 phenotypes; and fluvastatin based on SLCO1B1 and CYP2C9 phenotypes. It serves as a guide for selecting the most appropriate statin and the optimal dose if pharmacogenetic test results are available.|PharmGKB|N|
CN298428|Statins are among the most commonly prescribed drugs in the world to treat hypercholesterolemia and prevent cardiovascular diseases. They effectively lower cholesterol levels by inhibiting the HMG-CoA reductase to reduce cholesterol synthesis. Though well tolerated in general, the most common statin side effect is statin-associated musculoskeletal symptoms (SAMS) which range from myalgia, myopathy to fatal rhabdomyolysis, especially when statins are administered at higher doses and with certain other medications. Genetic variations in genes encoding the statin transporters, SLCO1B1 and ABCG2, and metabolizing enzyme, CYP2C9, have been shown to affect systemic plasma concentrations of statins and are associated with increased risk for SAMS. Guidelines regarding the use of pharmacogenomic tests in dosing for statins have been published in Clinical Pharmacology and Therapeutics by the Clinical Pharmacogenetics Implementation Consortium (CPIC) and are available on the CPIC and PharmGKB websites. The CPIC guideline provides specific therapeutic recommendations for simvastatin, atorvastatin, lovastatin, pravastatin and pitavastatin based on SLCO1B1 phenotype; rosuvastatin based on SLCO1B1 and ABCG2 phenotypes; and fluvastatin based on SLCO1B1 and CYP2C9 phenotypes. It serves as a guide for selecting the most appropriate statin and the optimal dose if pharmacogenetic test results are available.|PharmGKB|N|
CN298732|Statins are among the most commonly prescribed drugs in the world to treat hypercholesterolemia and prevent cardiovascular diseases. They effectively lower cholesterol levels by inhibiting the HMG-CoA reductase to reduce cholesterol synthesis. Though well tolerated in general, the most common statin side effect is statin-associated musculoskeletal symptoms (SAMS) which range from myalgia, myopathy to fatal rhabdomyolysis, especially when statins are administered at higher doses and with certain other medications. Genetic variations in genes encoding the statin transporters, SLCO1B1 and ABCG2, and metabolizing enzyme, CYP2C9, have been shown to affect systemic plasma concentrations of statins and are associated with increased risk for SAMS. Guidelines regarding the use of pharmacogenomic tests in dosing for statins have been published in Clinical Pharmacology and Therapeutics by the Clinical Pharmacogenetics Implementation Consortium (CPIC) and are available on the CPIC and PharmGKB websites. The CPIC guideline provides specific therapeutic recommendations for simvastatin, atorvastatin, lovastatin, pravastatin and pitavastatin based on SLCO1B1 phenotype; rosuvastatin based on SLCO1B1 and ABCG2 phenotypes; and fluvastatin based on SLCO1B1 and CYP2C9 phenotypes. It serves as a guide for selecting the most appropriate statin and the optimal dose if pharmacogenetic test results are available.|PharmGKB|N|
CN299709|Aminoglycosides are widely used antibiotics which inhibit protein synthesis in bacteria by binding to bacterial 16S ribosomal subunits. Aminoglycosides are associated with a number of adverse events, including nephrotoxicity and ototoxicity. The risk of aminoglycoside-induced ototoxicity is increased in patients who carry certain variants in the MT-RNR1 gene. MT-RNR1 is found in the mitochondrial genome and encodes the 12S ribosomal subunit. Some MT-RNR1 variants cause the 12S subunit to more closely resemble the bacterial 16S subunit, which can lead to aminoglycoside molecules binding to the ribosome. This ultimately results in hearing loss due to cell death in the cochlea. The Clinical Pharmacogenetics Implementation Consortium (CPIC) have published recommendations on aminoglycoside use in patients carrying MT-RNR1 variants in the journal Clinical Pharmacology and Therapeutics. These recommendations are also available on the CPIC and PharmGKB websites.|PharmGKB|N|
CN300066|A disorder arising from deficiency in the GATA2 with a wide spectrum of phenotypes. Autosomal dominant mutations of GATA2 cause a haploinsufficiency, which, in consequence, cause individuals to develop hematological, immunological, lymphatic, or other presentations. These often progress to severe organ (e.g. lung) failure, opportunistic infections, myelodysplastic syndrome, and/or acute myeloid leukemia. The most common clinical denominator is the propensity for myeloid neoplasia (myelodysplastic syndrome [MDS], myeloproliferative neoplasms [MPN], chronic myelomonocytic leukemia [CMML], acute myeloid leukemia [AML]).|MONDO|N|
CN300358|Glanzmann thrombasthenia-1 (GT1) is an autosomal recessive bleeding disorder characterized by failure of platelet aggregation and by absent or diminished clot retraction. The abnormalities are related to quantitative or qualitative abnormalities of the GPIIb/IIIa (ITGB3; 173470) platelet surface fibrinogen receptor complex resulting from mutations in the GPIIb gene (Rosenberg et al., 1997).
Genetic Heterogeneity of Glanzmann Thrombasthenia
See Glanzmann thrombasthenia-2 (GT2; 619267), caused by mutation the ITGB3 gene (173470) on chromosome 17q21.32.
See review by Botero et al. (2020).|OMIM|N|
CN300427|Peripheral neuroepithelioma is a rare noncentral nervous system tumor with evidence of primitive neuroectodermal differentiation.|MONDO|N|
CN300496|A carcinoma that arises from the extrahepatic bile ducts. It is composed entirely by malignant squamous epithelial cells.|MONDO|N|
CN300503|A disease caused by mosaic gain-of-function (GoF) of several genes in the MTOR pathway (MTOR, PIK3CA, PIK3R2 and AKT3) are functionally the same despite significant phenotypic variability. These GoF variants result in overgrowth due to an over-activation of key genes in this pathway. The phenotypic variability is generally attributed to the mosaic fraction and affected tissue types. For example, macrocephaly is noted if the variant is identified in the brain, but non symmetric overgrowth of that limb is noted when the variant is only present in the affected limb. The pathologies of the affected tissue often reveal similar characteristics such as cellular overgrowth. However, this is not always the case especially with focal cortical dysplasia. At times the characteristics pathologies are not present in the tissue but sampling biases are an issue. FCD resections often involve a very small area and so a very small amount of tissue is available for pathology and it is not guaranteed that lesional tissue is sent. Therefore, having a single disease term which can encompass the phenotypic variability yet provide a unifying molecular diagnosis name makes sense given the common functional mechanism.|MONDO|N|
CN300932|An inherited susceptibility or predisposition to developing migraines with or without aura.|MONDO|N|
CN300934|Roberts syndrome (RBS) is characterized by pre- and postnatal growth retardation, severe symmetric limb reduction defects, craniofacial anomalies and severe intellectual deficit. SC phocomelia is a milder form of RBS.|ORDO|N|
CN301077|Epidermolysis bullosa simplex (EBS) is characterized by fragility of the skin (and mucosal epithelia in some instances) that results in non-scarring blisters and erosions caused by minor mechanical trauma. EBS is distinguished from other types of epidermolysis bullosa (EB) or non-EB skin fragility syndromes by the location of the blistering in relation to the dermal-epidermal junction. In EBS, blistering occurs within basal keratinocytes. The severity of blistering ranges from limited to hands and feet to widespread involvement. Additional features can include hyperkeratosis of the palms and soles (keratoderma), nail dystrophy, milia, and hyper- and/or hypopigmentation. Rare EBS subtypes have been associated with additional clinical features including pyloric atresia, muscular dystrophy, cardiomyopathy, and/or nephropathy.|GeneReviews|N|
CN301239|Autoimmune lymphoproliferative syndrome (ALPS), caused by defective lymphocyte homeostasis, is characterized by the following: Non-malignant lymphoproliferation (lymphadenopathy, hepatosplenomegaly with or without hypersplenism) that often improves with age. Autoimmune disease, mostly directed toward blood cells. Lifelong increased risk for both Hodgkin and non-Hodgkin lymphoma. In ALPS-FAS (the most common and best-characterized type of ALPS, associated with heterozygous germline pathogenic variants in FAS), non-malignant lymphoproliferation typically manifests in the first years of life, inexplicably waxes and wanes, and then often decreases without treatment in the second decade of life; in many affected individuals, however, neither splenomegaly nor the overall expansion of lymphocyte subsets in peripheral blood decreases. Although autoimmunity is often not present at the time of diagnosis or at the time of the most extensive lymphoproliferation, autoantibodies can be detected before autoimmune disease manifests clinically. In ALPS-FAS caused by homozygous or compound heterozygous (biallelic) pathogenic variants in FAS, severe lymphoproliferation occurs before, at, or shortly after birth, and usually results in death at an early age. ALPS-sFAS, resulting from somatic FAS pathogenic variants in selected cell populations, notably the alpha/beta double-negative T cells (a/ß-DNT cells), appears to be similar to ALPS-FAS resulting from heterozygous germline pathogenic variants in FAS, although lower incidence of splenectomy and lower lymphocyte counts have been reported in ALPS-sFAS and no cases of lymphoma have yet been published.|GeneReviews|N|
CN301286|An adenocarcinoma that is characterized by the presence of papillary patterns and cellular budding. Psammoma bodies may be present. Representative examples include cervical serous adenocarcinoma, endometrial serous adenocarcinoma, ovarian serous adenocarcinoma, and primary peritoneal serous adenocarcinoma.|MONDO|N|
CN301329|A focal cognitive seizure involves an alteration in a cognitive function (which can be a deficit or a positive phenomenon such as forced thought), which occurs at seizure onset. To be classified as a focal cognitive seizure, the change in cognitive function should be specific and out of proportion to other relatively unimpaired aspects of cognition, because all cognition is impaired in a focal impaired awareness seizure.|HPO|N|
CN302495|A type of status epilepticus characterized by a prolonged bilateral tonic-clonic seizure, or repeated bilateral tonic-clonic seizures without recovery between.|HPO|N|
CN303184|Inflammation of the inner or middle layer of arcuate venules. This feature may involve only the intima or it can be transmural.|HPO|N|
CN304703|A rare glomerular disease characterized by a pattern of glomerular injury on kidney biopsy with characteristic light microscopic changes: mesangial hypercellularity, endocapillary proliferation, and thickening of the glomerular basement membrane (GBM). On the basis of immunofluorescence (IF) the disorder is divided into C3 glomerulopathy (C3G) or immunoglobulin-mediated membranoproliferative glomerulonephritis. Through electron microscopy C3G is further divided into Dense deposit disease, with highly electrondense deposits in the glomerular basement membrane, and C3 glomerulonephritis, with mesangial, intramembranous, subendothelial and subepithelial deposits. Secondary causes (autoimmune, infectious, malignancies) are excluded.|ORDO|N|
CN305087|Any neurological disorder in which the cause of the disease is a mutation in the ATP1A3.|MONDO|N|
CN305117|A cardiomyopathy that is due to abnormalities in heart muscle cells.|MONDO|N|
CN305246|An X-linked syndromic intellectual disability that that includes subtypes of the heterogeneous, eponymously named Lujan-Fryns syndrome, X-linked Ohdo syndrome, and Optiz-Kaveggia/ FG syndrome, which is caused by mutations in the gene MED12. The common and most penetrant phenotype shared amongst these disease entities is intellectual disability, with dysgenesis or agenesis of the corpus callosum, blepharophimosis, and marfanoid habitus having variable phenotypic expressivity.|MONDO|N|
CN305251|A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, hypotonia, craniofacial dysmorphism (such as ridged metopic sutures, long palpebral fissures, broad nasal bridge, hypoplastic alae nasi, low-set, prominent ears, prominent midline tongue groove, and downturned mouth), congenital heart defects, and variable skeletal abnormalities including hip dysplasia, vertebral anomalies, and scoliosis. Additional reported manifestations include high pain tolerance and genitourinary anomalies. Brain imaging may show a thin corpus callosum or white matter abnormalities.|ORDO|N|
CN305296|A chronic inflammatory process that affects the tissues that surround and support the teeth.|MONDO|N|
CN305307|A syndromic cataract that has autosomal dominant inheritance.|MONDO|N|
CN305314|In general, the distal arthrogryposes are a group of disorders characterized by contractures mainly involving the distal parts of the limbs. The hands have a characteristic position with medially overlapping fingers, clenched fists, ulnar deviation of fingers, and camptodactyly, and the feet have deformities. Contractures at other joints are variable; there are no associated visceral anomalies, and intelligence is normal. Bamshad et al. (1996) revised the classification by Hall et al. (1982) of the common mendelian arthrogryposis syndromes. The various phenotypic forms of distal arthrogryposis are classified hierarchically according to the proportion of features they share with one another and are designated DA1 through DA10 (summary by Bamshad et al., 2009).
The prototypic distal arthrogryposis is type 1 (DA1), which is characterized largely by camptodactyly and clubfoot. Hypoplasia and/or absence of some interphalangeal creases is common. The shoulders and hips are less frequently affected. While the pattern of affected joints is consistent, the degree to which the joints are affected is highly variable, with equinovarus deformities ranging from mild to severe and hand involvement ranging from isolated hypoplasia of the distal interphalangeal crease of the fifth digit to severely clenched fists and ulnar deviation of the wrist (summary by Bamshad et al., 1996). Classically, DA was defined as being without overt neurologic or muscle disease (Lin et al., 1977 and Hall et al., 1982), although more recent evidence suggests that DA1A results from muscle dysfunction (Robinson et al., 2007; Mokbel et al., 2013; Davidson et al., 2013) (summary by Bamshad et al., 2009).
The congenital contractures in distal arthrogryposis type 2B (Sheldon-Hall syndrome; see 601680) are similar to those observed in DA1, but affected individuals tend to have more prominent nasolabial folds, downslanting palpebral fissures, and a small mouth. DA2B is thought to be the most common of the distal arthrogryposis disorders (summary by Bamshad et al., 2009).
A review of patients diagnosed with DA1 or DA2B by Beck et al. (2013) found that the same mutation caused DA1 in some families and DA2B in others. There were no significant differences among the clinical characteristics of DA by locus or between each locus and DA1 or DA2B. The authors suggested that DA1 and DA2B might represent phenotypic extremes of the same disorder.
Genetic Heterogeneity of Distal Arthrogryposes
Other forms of distal arthrogryposis include DA1B (614335), caused by mutation in the MYBPC1 gene (160794) on chromosome 12q23; DA1C (619110), caused by mutation in the MYLPF gene (617378) on chromosome 16p11; DA2A (Freeman-Sheldon syndrome, 193700), caused by mutation in the MYH3 gene (160720) on chromosome 17p13; DA2B1 (601680), caused by mutation in the TNNI2 gene (191043) on 11p15; DA2B2 (618435), caused by mutation in the TNNT3 gene (600692) on chromosome 11p15; DA2B3 (618436), caused by mutation in the MYH3 gene (160720) on chromosome 17p13; DA3 (Gordon syndrome, 114300) and DA5 (108145), caused by mutation in the PIEZO2 gene (613629) on chromosome 18p11; DA4 (609128), which has not been mapped; DA5D (615065), caused by mutation in the ECEL1 gene (605896) on chromosome 2q36; DA6 (108200); DA7 (158300), caused by mutation in the MYH8 gene (160741) on chromosome 17p13.1; DA9 (121050), caused by mutation in the FBN2 gene (612570) on chromosome 5q23; DA10 (187370), which maps to chromosome 2q; DA11 (620019), caused by mutation in the MET gene (164860) on chromosome 7q31; and DA12 (620545), caused by mutation in the ADAMTS15 gene (607509) on chromosome 11q25.
Distal arthrogryposis-8 (DA8) has been reclassified as contractures, pterygia, and variable skeletal fusions syndrome-1A (CPSKF1A; 178110).
See 277720 for discussion of a possible autosomal recessive form of DA2A. See 208155 for a description of Illum syndrome, which includes 'whistling face,' central nervous system dysfunction, and calcium deposition in central nervous system and muscle.
There are other forms of arthrogryposis multiplex congenita (AMC), including a lethal congenital form (see LCCS1, 253310).|OMIM|N|
CN305315|An instance of Fanconi renotubular syndrome that is inherited.|MONDO|N|
CN305316|In the evaluation of male infertility, the Sertoli cell-only (SCO) syndrome is diagnosed on testicular biopsy when either no germ cells are visible in any seminiferous tubules (SCO type I) or germ cells are present in a minority of tubules (SCO type II). It is believed that the latter variant arises from a failure to complete differentiation and maturation of spermatocytes and spermatids, leading to degeneration of germ cells within most tubules (Sargent et al., 1999).
There is evidence that Sertoli cell-only syndrome can be caused by interstitial deletions in the 'azoospermia factor' (AZF) region on the long arm of the Y chromosome (SPGFY1; 400042).
For a discussion of phenotypic and genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).|OMIM|N|
CN305330|Epidermal nevus syndrome (ENS) is a rare congenitally acquired syndrome, characterized by the presence of epidermal nevi in association with various developmental abnormalities of the skin, eyes, nervous, skeletal, cardiovascular and urogenital systems.|ORDO|N|
CN305331|An instance of essential hypertension that is caused by a modification of the individual's genome.|MONDO|N|
CN305333|GTP-cyclohydrolase I deficiency, an autosomal recessive genetic disorder, is one of the causes of malignant hyperphenylalaninemia due to tetrahydrobiopterin deficiency. Not only does tetrahydrobiopterin deficiency cause hyperphenylalaninemia, it is also responsible for defective neurotransmission of monoamines because of malfunctioning tyrosine and tryptophan hydroxylases, both tetrahydrobiopterin-dependent hydroxylases.|ORDO|N|
CN305335|An inherited susceptibility or predisposition to developing glioma.|MONDO|N|
CN305336|MFN2 hereditary motor and sensory neuropathy (MFN2-HMSN) is a classic axonal peripheral sensorimotor neuropathy, inherited in either an autosomal dominant (AD) manner (~90%) or an autosomal recessive (AR) manner (~10%). MFN2-HMSN is characterized by more severe involvement of the lower extremities than the upper extremities, distal upper-extremity involvement as the neuropathy progresses, more prominent motor deficits than sensory deficits, and normal (>42 m/s) or only slightly decreased nerve conduction velocities (NCVs). Postural tremor is common. Median onset is age 12 years in the AD form and age eight years in the AR form. The prevalence of optic atrophy is approximately 7% in the AD form and approximately 20% in the AR form.|GeneReviews|N|
CN305337|Heart-hand syndrome refers to a group of congenital disorders characterized by malformations of the upper limbs and heart. To date, heart-hand syndrome comprises the following rare syndromes; Holt-Oram syndrome; heart-hand syndrome type 2; heart-hand syndrome type 3; heart hand syndrome, Slovenian type, brachydactyly-long thumb; and patent ductus arteriosus-bicuspid aortic valve - hand anomalies (see these terms).|ORDO|N|
CN305341|Syndromic microphthalmia-1 (MCOPS1) is an X-linked disorder characterized by unilateral or bilateral microphthalmia or anophthalmia. The most common extraocular features are impaired intellectual development, large and dysplastic ears with skin tags, high-arched or cleft palate, dental anomalies, urogenital anomalies, and skeletal manifestations including lordosis or scoliosis, clinodactyly, syndactyly, brachydactyly, and abnormal thumbs. There is considerable variation in severity among reported families (Slavotinek et al., 2005).
Genetic Heterogeneity
Other forms of syndromic microphthalmia include MCOPS2 (300166), caused by the BCOR gene (300485) on chromosome Xp11; MCOPS3 (206900), caused by mutation in the SOX2 gene (184429) on chromosome 3q26; MCOPS5 (610125), caused by mutation in the OTX2 gene (600037) on chromosome 14q22; MCOPS6 (607932), caused by mutation in the BMP4 gene (112262) on chromosome 14q22; MCOPS7 (309801), caused by mutation in the HCCS gene (300056) on chromosome Xp22; MCOPS9 (601186), caused by mutation in the STRA6 gene (610745) on chromosome 15q24; MCOPS11 (614402), caused by mutation in the VAX1 gene (604294) on chromosome 10q25; MCOPS12 (615524), caused by mutation in the RARB gene (180220) on chromosome 3p24; MCOPS13 (300915), caused by mutation in the HMGB3 gene (300193) on chromosome Xq28; MCOPS14 (615877), caused by mutation in the MAB21L2 gene (604357) on chromosome 4q31; MCOPS15 (615145), caused by mutation in the TENM3 gene (610083) on chromosome 4q; and MCOPS16 (611038), caused by mutation in the RAX gene (601881) on chromosome 18q21.
A form of syndromic microphthalmia also maps to chromosome 6q21 (MCOPS8; 601349). A form of microphthalmia associated with progressive brain atrophy has been reported (MCOPS10; 611222).
A form of syndromic microphthalmia, formerly designated MCOPS4, has been found to be the same entity as MCOPS1.
Williamson and FitzPatrick (2014) reviewed genes associated with microphthalmia, anophthalmia, and/or coloboma phenotypes. They noted that when exon sequencing is combined with detection of gene deletions via aCGH and high-resolution analysis of intragenic microdeletions and microduplications, approximately 75% of cases of bilateral anophthalmia or severe microphthalmia are found to carry heterozygous mutations in the SOX2 (184429) or OTX2 (600037) genes, or biallelic mutations in the STRA6 gene (610745) (see also MCOPS5, 610125 and MCOPS9, 601186).|OMIM|N|
CN305342|The features of Lesch-Nyhan syndrome (LNS) are intellectual disability, spastic cerebral palsy, choreoathetosis, uric acid urinary stones, and self-destructive biting of fingers and lips. Megaloblastic anemia has been found in some patients (summary by van der Zee et al., 1968, Madeo et al., 2019).|OMIM|N|
CN305347|Microcephaly, epilepsy, and diabetes syndrome-1 (MEDS1) is an autosomal recessive neurodevelopmental disorder characterized by microcephaly, simplified gyral pattern, severe epilepsy, and infantile diabetes (summary by Poulton et al., 2011).
Genetic Heterogeneity of Microcephaly, Epilepsy, and Diabetes Syndrome
MEDS2 (619278) is caused by mutation in the YIPF5 gene (611483) on chromosome 5q31.|OMIM|N|
CN305348|A disorder of the musculoskeletal system caused by pathogenic variants in the RYR1 gene, which encodes the ryanodine receptor type 1 protein. These variants are associated with a variety of overlapping features characterized by symmetric proximal muscle weakness, often with pronounced facial weakness with or without dysmorphism and ophthalmoparesis/ophthalmoplegia with ptosis, bulbar weakness, significant respiratory involvement, severe neonatal hypotonia, scoliosis, orthopedic deformities including arthrogryposis, hip dislocation, club feet, and King Denborough syndrome (pectus carinatum or excavatum, short stature, joint contractures, facial and skeletal deformities), malignant hyperthermia susceptibility, anesthesia-induced rhabdomyolysis, fatigue, exercise-induced hyperthermia/exertional heat stroke, and exertional myalgia. Histologic findings on skeletal muscle biopsy reveal a wide range of structural abnormalities and can include central core disease, multiminicore disease, cone-rod myopathy, centronuclear myopathy, and congenital fiber-type disproportion.|MONDO|N|
CN305356|Chromosomal disorder in which the chromosomal anomaly consists of the presence of a ring chromosome. A ring chromosome is a chromosome whose arms have fused together to form a ring, often with the loss of the ends of the chromosome.|MONDO|N|
CN305360|Nevus of Ito is a benign dermal melanocytosis occurring most frequently in the Asian populations and characterized by unilateral, asymptomatic, blue, gray or brown skin pigmentation within the acromioclavicular and upper chest area (involving the side of the neck, the supraclavicular and scapular areas, and the shoulder region). It is usually diagnosed in early infancy and in early adolescence. Nevus of Ito may progressively enlarge and darken in color (particularly with puberty) and its appearance usually remains stable once adulthood is reached. Spontaneous regression does not occur. Malignant melanoma has rarely been reported within a nevus of Ito. It shares the clinical features of nevus of Ota, except its anatomic location and in rare occasions, mayoccur together with the latter.|ORDO|N|
CN305369|Noncirrhotic portal hypertension-1 (NCPH1) is an autosomal recessive disorder characterized by onset of portal hypertension associated with hepatosplenomegaly in the first or second decades of life, in the absence of cirrhosis, known extrahepatic diseases, or splanchnic venous thrombosis. Liver function is normal, and the disorder is relatively benign (Vilarinho et al., 2016).
Genetic Heterogeneity of NCPH
See also NCPH2 (619463), caused by mutation in the GIMAP5 gene (608086) on chromosome 7q36.|OMIM|N|
CN305371|A very rare, persistent and more severe form of potassium-aggravated myotonia (PAM).|ORDO|N|
CN305372|Prekallikrein deficiency (PKKD) is a rare asymptomatic clotting defect characterized by prolongation of activated partial thromboplastin time (summary by Saito et al., 1981).|OMIM|N|
CN305373|Any disorder of plasmalogen biosynthesis in which the cause of the disease is a mutation in the AGXT gene.|MONDO|N|
CN305375|A congenital cardiovascular malformation of the pulmonary valve in which there is narrowing or stricture (obstruction to flow).|MONDO|N|
CN305378|Any disorder of plasmalogen biosynthesis in which the cause of the disease is a mutation in the GNPAT gene.|MONDO|N|
CN305379|Any disorder of plasmalogen biosynthesis in which the cause of the disease is a mutation in the AGPS gene.|MONDO|N|
CN305384|A rare ciliopathy with major skeletal involvement characterized by a hypoplastic thorax with short ribs and protuberant abdomen, micromelia with particularly short tibiae with ovoid configuration, pre- and postaxial polydactyly, brachydactyly, hypoplasia or aplasia of nails, and dysmorphic craniofacial features (such as prominent forehead, low-set and malformed ears, short and flat nose, lobulated tongue, micrognathia, and cleft lip/palate). Additional reported manifestations include urogenital, gastrointestinal, cardiovascular, and cerebral malformations, among others. The condition is fatal in the neonatal period.|ORDO|N|
CN305390|An abnormality characterized by thickening of the muscle in the wall of the pylorus. It results in the narrowing of the pyloric channel. The overlying mucosa may appear hypertrophic as well. Clinical signs and symptoms appear early in life and include projectile vomiting and dehydration.|MONDO|N|
CN305395|An olfactory neuroblastoma arising in the paranasal sinus.|MONDO|N|
CN305409|Frontotemporal dementia with motor neuron disease (FTD-MND) is a type of frontotemporal lobar degeneration characterized by the insidious onset (between the ages of 38-78 years) of dementia-associated psychiatric symptoms (e.g. personality changes, uninhibited behavior, irritability, aggressiveness), memory difficulties, global intellectual impairment, emotional disorders and transcortical motor aphasia that eventually leads to mutism, in addition to the manifestations of motor neuron disease such as neurogenic muscular wasting (similar to what is seen in amyotrophic lateral sclerosis; see this term). The disease is progressive, with death occurring 2-5 years after onset.|ORDO|N|
CN305415|Intractable diarrhea of infancy (IDI) is a heterogeneous syndrome that includes several diseases with different etiologies. Provisional classification of IDI, according to villous atrophy and based on immunohistological criteria, distinguishes two clearly different groups of IDI: 1) Immune-mediated: characterised by a mononuclear cell infiltration of the lamina propria and considered as being related to T cell activation. 2) The second histological pattern includes early onset severe intractable diarrhea histologically characterised by villous atrophy with low or without mononuclear cell infiltration of the lamina propria but specific histological abnormalities involving the epithelium.|ORDO|N|
CN305422|An inflammatory and granulomatous, dermatophytic infection that is classified into two forms, depending on the affected individual’s health situation and clinical picture. The first form is mainly observed in healthy individuals and is defined as a perifollicular, papular form induced by penetrating trauma that is mostly observed in the lower extremities. The second form is granulomatous, related to immunosuppression, seen in a nodular form, and usually appears on the upper extremities.|MONDO|N|
CN305433|A localized neoplasm of probable fibroblastic derivation, that arises from the pleura. It is characterized by the presence of round to spindle-shaped cells, hylanized stroma formation, thin-walled branching blood vessels, and thin bands of collagen.|MONDO|N|
CN305440|A reproductive organ benign neoplasm that arises in the ovary or testis and that is composed of granulosa cells, Leydig cells, Sertoli cells, and/or fibroblasts.|MONDO|N|
CN305451|A rare nervous system tumor characterized by cells phenotypically representing Schwann cells but containing melanosomes and expressing melanoma markers. The entity occurs as a non-psammomatous (typically affecting spinal nerves) or a psammomatous (also involving nerves of the intestinal tract and heart) variant. About 50% of psammomatous tumors are associated with Carney complex. Slightly over 10% of melanotic schwannomas follow a malignant course.|ORDO|N|
CN305458|A pityriasis rubra pilaris that occurs around the fifth or sixth decade of life.|MONDO|N|
CN305459|A pityriasis rubra pilaris that has a juvenile onset. The peak incidence has a bimodal distribution, with the first peak at age six to seven yearss. The classical childhood-onset subtype of PRP usually develops in the late teenage years but may also be seen in the first few years of life.|MONDO|N|
CN305460|A type of trimethylaminuria that occurs as the result of treatment with large doses of dietary precursors of the offending chemical. Symptoms develop when the ability of the liver enzyme (flavin-containing monooxygenase 3) is insufficient to break down (metabolize) the excess trimethylamine.|MONDO|N|
CN305464|Any congenital alveolar dysplasia in which the cause of the disease is a mutation in the FGF10 gene.|MONDO|N|
CN305465|Any congenital alveolar dysplasia in which the cause of the disease is a mutation in the TBX4 gene.|MONDO|N|
CN305466|A syndrome characterized by the inability to belch, abdominal bloating and discomfort/nausea, or chest pain, especially after eating, socially awkward gurgling noises from the chest and lower neck as though the esophagus is churning and straining to eject the air, excessive flatulence, social inhibition, and difficulty vomiting (common but not universal). Botulinum toxin (BT) injection into the cricopharyngeus muscle (CPM) is done for both diagnosis and treatment of R-CPD.|MONDO|N|
CN305467|A rare condition comprising a triad of unilateral renal agenesis, ipsilateral seminal vesicle obstruction and ipsilateral ejaculatory duct obstruction.|MONDO|N|
CN305468|A disorder of plasmalogens biosynthesis, that is an autosomal dominant neurological disorder that results in uncontrolled synthesis of ether lipids.|MONDO|N|
CN305471|An instance of thrombocytopenia that is inherited.|MONDO|N|
CN305472|A subset of primary central nervous system vasculitis where disease is rapidly progressive after onset that is characterized by bilateral, multiple, large cerebral vessel lesions and multiple CNS infarctions.|MONDO|N|
CN305473|Any peroxisomal disease in which the cause of the disease is a defect in a single enyme or protein.|MONDO|N|
CN305474|Any disorder of peroxisomal alpha oxidation in which the cause of the disease is a mutation in the PHYH gene.|MONDO|N|
CN305475|Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX1 gene.|MONDO|N|
CN305476|Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX2 gene.|MONDO|N|
CN305477|Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX3 gene.|MONDO|N|
CN305478|Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX5 gene.|MONDO|N|
CN305479|Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX6 gene.|MONDO|N|
CN305480|Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX10 gene.|MONDO|N|
CN305481|Any peroxisome biogenesis disorder due to PEX5 in which the cause of the disease is a mutation in the PEX7-binding domain of the PEX5 gene.|MONDO|N|
CN305482|Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX12 gene.|MONDO|N|
CN305483|Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX13 gene.|MONDO|N|
CN305484|Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX14 gene.|MONDO|N|
CN305485|Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX16 gene.|MONDO|N|
CN305486|Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX19 gene.|MONDO|N|
CN305487|Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX26 gene.|MONDO|N|
CN305488|Any peroxisome biogenesis disorder in which the cause of the disease is a mutation in the PEX7 gene.|MONDO|N|
CN305489|Any disorder of plasmalogen biosynthesis in which the cause of the disease is a mutation in the FAR1 gene.|MONDO|N|
CN305490|A disease that has its basis in the disruption of peroxisome and mitochondrial fission.|MONDO|N|
CN305491|Any peroxisomal single enzyme/protein defect that has its basis in the disruption of peroxisomal alpha oxidatiion.|MONDO|N|
CN305492|Any peroxisome biogenesis disorder in which the cause of the disease is a mutation in the PEX11B gene.|MONDO|N|
CN305495|Any peroxisomal single enzyme/protein defect that has its basis in the disruption of bile acid aminotransferase.|MONDO|N|
CN305496|Any disorder of bile acid aminotransferase in which the cause of the disease is a mutation in the BAAT gene.|MONDO|N|
CN305497|Any peroxisomal single enzyme/protein defect that has its basis in the disruption of peroxisome oxidation.|MONDO|N|
CN305498|An adult Refsum disease in which the cause of the disease is a mutation in the PEX7 gene.|MONDO|N|
CN305499|A central nervous system disease that consists of gait impairment, unclear (“scanning”) speech, visual blurring due to nystagmus, hand incoordination, and tremor with movement.|MONDO|N|
CN305501|An ABCD1 deficiency that presents with primary adrenocortical insufficiency between age two years and adulthood and most commonly by age 7.5 years, without evidence of neurologic abnormality; however, some degree of neurologic disability (most commonly adrenomyeloneuropathy (AMN)) usually develops by middle age.|MONDO|N|
CN305503|A inflammatory syndrome in adults infected by the SARS-CoV-2 with severe illness requiring hospitalization in a person aged =21 years; a positive test result for current or previous SARS-CoV-2 infection (nucleic acid, antigen, or antibody) during admission or in the previous 12 weeks; severe dysfunction of one or more extrapulmonary organ systems (e.g., hypotension or shock, cardiac dysfunction, arterial or venous thrombosis or thromboembolism, or acute liver injury); laboratory evidence of severe inflammation (e.g., elevated CRP, ferritin, D-dimer, or interleukin-6); and absence of severe respiratory illness (to exclude patients in which inflammation and organ dysfunction might be attributable simply to tissue hypoxia).|MONDO|N|
CN305504|A SARS-CoV-2-related disease that is caused by infection by SARS-CoV-2, and manifests after the original primary infection.|MONDO|N|
CN305506|A peroxisome biogenesis disorder which is due to defect in PEX7 or PEX5. This includes rhizomelic chondrodysplasia punctata due to defect in PEX7 or PEX5, and adult Refsum Disease due to defects in PEX7.|MONDO|N|
CN305508|The initial viral infectious disase that causes illness.|MONDO|N|
CN305509|An infectious disease that arises from reactivation of a virus from a latent phase to a lytic phase.|MONDO|N|
CN305511|Any Mendelian disease in which the cause of the disease is a mutation in the SEC61A1 gene. It is characterized by variable presentation of phenotypes in patients, including autosomal dominant tubulointerstitial kidney disease, primary antibody deficiency, and severe congenital neutropenia.|MONDO|N|
CN305512|A disease caused by infection with herpesvirus-7.|MONDO|N|
CN305513|A classic (severe) or non-classic (mild or intermediate) form of a genetic disease.|MONDO|N|
CN305514|A severe form of a genetic disease.|MONDO|N|
CN305515|A mild or intermediate form of a genetic disease.|MONDO|N|
CN305517|A disease caused by infection with herpes simplex type 1.|MONDO|N|
CN305518|A disease caused by infection with herpes simplex type 2.|MONDO|N|
CN305519|Any herpes simplex type 1 infectious disease that involves the lip. This virus usually responsible for cold sores (herpes labialis).|MONDO|N|
CN305520|Any herpes simplex type 2 infectious disease that involves the lip.|MONDO|N|
CN305521|Any herpes simplex type 2 infectious disease that involves the genitals.|MONDO|N|
CN305522|Any herpes simplex type 1 infectious disease that involves the genitals.|MONDO|N|
CN305523|Any disease that presents as a mucopolysaccharidosis or mucopolysaccharidosis-like disorder.|MONDO|N|
CN305526|A retinopathy, which may include conditions described as retinitis pigmentosa and Leber congenital amaurosis, caused by biallelic variants in the RPE65 gene.|MONDO|N|
CN305527|A iatrogenic or non-iatrogenic form of a disease.|MONDO|N|
CN305528|A new infection by the hepatitis B virus, which can be transmitted by direct contact of infected blood with mucous membranes or open areas of the skin. Signs and symptoms may include loss of appetite, joint and muscle pain, low-grade fever and stomach pain. Two to six percent of adults progress to a chronic infection, while 90% of infants become chronically ill. A vaccine is available for those at risk.|MONDO|N|
CN305529|A new infection by the hepatitis C virus, which can be detected in blood. Signs and symptoms may include right upper quadrant abdominal pain, jaundice, dark urine, white stools and nausea. Approximately 15%-25% individuals clear the virus from their bodies without treatment. 75%-85% individuals develop chronic hepatitis C. There are possible treatments depending on individual characteristics.|MONDO|N|
CN305530|Any peroxisomal single enzyme/protein defect that disrupts peroxisomal transport.|MONDO|N|
CN305531|Any acute myeloid leukemia that has the chromosomal anomaly inv(16)(p13.1;q22). (A chromosomal inversion that involves chromosome 16. It is associated with the development of acute myeloid leukemia CBFB-MYH11, acute myelomonocytic leukemia with abnormal eosinophils, and granulocytic sarcoma.)|MONDO|N|
CN305532|Any acute myeloid leukemia that has the chromosomal anomaly t(16;16)(p13.1;q22). (A chromosomal translocation that involves chromosome 16. It is often associated with the development of acute myeloid leukemia CBFB-MYH11, acute myelomonocytic leukemia with abnormal eosinophils, and granulocytic sarcoma.)|MONDO|N|
CN305533|Any acute myeloid leukemia that has the chromosomal anomaly t(15;17)(q24;q21). (A chromosomal translocation associated with creation of a fusion between the PML and RARA genes. It is seen in variants of acute promyelocytic leukemia.)|MONDO|N|
CN305534|Any acute myeloid leukemia that has the chromosomal anomaly t(9;11)(p21.3;q23.3). (A cytogenetic abnormality that refers to the translocation of the short arm (p21.3) of chromosome 9 and the long arm (q23.3) of chromosome 11. It is associated with the development of acute myeloid leukemia with the MLLT3-MLL fusion gene transcript.)|MONDO|N|
CN305535|Any acute myeloid leukemia that has the chromosomal anomaly t(10;11)(p12;q23). (A cytogenetic abnormality that refers to the translocation of chromosome 10p12 with chromosome 11q23. It is associated with acute myeloid leukemia in childhood.)|MONDO|N|
CN305536|Any acute myeloid leukemia that has the chromosomal anomaly t(10;11)(p11.2;q23). (A cytogenetic abnormality that refers to the translocation of the short arm (p11.2) of chromosome 10 and the long arm (q23) of chromosome 11. It is associated with KMT2A (MLL)/ABI1 fusions and acute myeloid leukemia.)|MONDO|N|
CN305537|Any acute myeloid leukemia that has the chromosomal anomaly t(1;11)(q21;q23). (A cytogenetic abnormality that refers to the translocation of the long arm (q21) of chromosome 1 and the long arm (q23) of chromosome 11. It is associated with KMT2A (MLL)/MLLT11 (AF1Q) fusions, acute myeloid leukemia and some cases of acute lymphoblastic leukemia.)|MONDO|N|
CN305538|Any acute myeloid leukemia that has the chromosomal anomaly t(4;11)(q21;q23). (A chromosomal abnormality consisting of the translocation of 4q21 with 11q23.)|MONDO|N|
CN305539|Any acute myeloid leukemia that has the chromosomal anomaly t(6;11)(q27;q23). (A cytogenetic abnormality that refers to the translocation of the long arm (q27) of chromosome 6 and the long arm (q23) of chromosome 11. It is associated with the development of de novo acute myeloid leukemia.)|MONDO|N|
CN305540|Any acute myeloid leukemia that has the chromosomal anomaly t(6;9)(p23;q34.1). (A cytogenetic abnormality that refers to the translocation of the short arm (p23) of chromosome 6 and the long arm (q34.1) of chromosome 9. It is associated with DEK/NUP214 fusions, acute myeloid leukemia and myelodysplastic syndromes.)|MONDO|N|
CN305541|Any acute myeloid leukemia that has the chromosomal anomaly t(11;19)(q23;p13). (A cytogenetic abnormality that refers to the translocation of the long arm (q23) of chromosome 11 and the short arm (p13) of chromosome 19. It is associated with KMT2A (MLL) fusions, including those with MLLT1 (ENL) and ELL, and acute myeloid leukemia.)|MONDO|N|
CN305542|Any acute myeloid leukemia that has the chromosomal anomaly t(11;19)(q23;p13.1). (A cytogenetic abnormality that refers to the translocation of the long arm (q23) of chromosome 11 and the short arm (p13.1) of chromosome 19. It is associated with the development of acute myeloid leukemia with variant MLL translocations and topoisomerase II inhibitor-related acute myeloid leukemia.)|MONDO|N|
CN305543|Any acute myeloid leukemia that has the chromosomal anomaly t(11;19)(q23.3;p13.3). (A cytogenetic abnormality that refers to the translocation of the long arm (q23.3) of chromosome 11 and the short arm (p13.3) of chromosome 19. It is associated with KMT2A (MLL)/MLLT1 (ENL) fusions and acute myeloid leukemia.)|MONDO|N|
CN305544|Any acute myeloid leukemia that has the chromosomal anomaly t(v;11q23.3). (A chromosomal abnormality consisting of the translocation of genetic material from any one of several chromosomes to the 11q23.3 region, resulting in an MLL gene rearrangement.)|MONDO|N|
CN305545|Any acute myeloid leukemia that has the chromosomal anomaly Monosomy 7. (A chromosomal abnormality consisting of the absence of one of the copies of chromosome 7 in somatic cells.)|MONDO|N|
CN305546|Any acute myeloid leukemia that has the chromosomal anomaly Monosomy 5. (A cytogenetic aneuploidy abnormality that refers to the presence of one chromosome 5 only. It is associated with the development of refractory anemia with excess blasts, refractory anemia with multilineage dysplasia, and refractory anemia with multilineage dysplasia and ringed sideroblasts.)|MONDO|N|
CN305547|Any acute myeloid leukemia that has the chromosomal anomaly Trisomy 8. (A chromosomal abnormality consisting of the presence of a third copy of chromosome 8 in somatic cells.)|MONDO|N|
CN305548|Any acute myeloid leukemia that has the chromosomal anomaly der12p. (A cytogenetic abnormality involving the rearrangement of two or more other chromosomes with the short arm of chromosome 12 (12p).)|MONDO|N|
CN305549|Any acute myeloid leukemia that has the chromosomal anomaly t(2;12). (A cytogenetic abnormality that involves a translocation between chromosomes 2 and 12.)|MONDO|N|
CN305550|Any acute myeloid leukemia that has the chromosomal anomaly t(11;17). (A cytogenetic abnormality that involves a translocation between chromosomes 11 and 17.)|MONDO|N|
CN305551|Any acute myeloid leukemia that has the chromosomal anomaly t(8;16). (A cytogenetic abnormality that involves a translocation between chromosomes 8 and 16.)|MONDO|N|
CN305552|Any acute myeloid leukemia that has the chromosomal anomaly t(1;22). (A cytogenetic abnormality that involves a translocation between chromosomes 1 and 22.)|MONDO|N|
CN305553|Any acute myeloid leukemia that has the chromosomal anomaly t(5;11)(q35;p15). (A cytogenetic abnormality that refers to the translocation of chromosome 11p15 with chromosome 5q35. It results in the formation of NUP98/NSD1 fusion gene. It is associated with the development of acute myeloid leukemia with t(5;11)(q35;p15); NUP98-NSD1.)|MONDO|N|
CN305554|Any acute myeloid leukemia that has the chromosomal anomaly t(7;12)(q36;p13). (A chromosomal translocation involving the ETV6 gene on chromosome 12p13 and HLXB9 gene on chromosome 7q36.)|MONDO|N|
CN305555|Any acute myeloid leukemia that has the chromosomal anomaly t(9;22)(q34.1;q11.2). (A translocation between chromosomes 9 and 22 that is associated with the Philadelphia chromosome.)|MONDO|N|
CN305556|Any acute myeloid leukemia that has the chromosomal anomaly inv(3)(q21.3;q26.2). (A cytogenetic abnormality that refers to a paracentric inversion involving breakpoints on the long (q23.1 and q26.2) of chromosome 3. It is associated with acute myeloid leukemia.)|MONDO|N|
CN305557|Any acute myeloid leukemia that has the chromosomal anomaly t(3;3)(q21.3;q26.2). (A cytogenetic abnormality that refers to the translocation where both breakpoints are on the long arm (q23.1 and q26.2) of chromosome 3. It is associated with acute myeloid leukemia.)|MONDO|N|
CN305558|Any acute myeloid leukemia that has the chromosomal anomaly t(3;12)(q23;p12.3). (A cytogenetic abnormality that refers to the translocation of the long arm (q23) of chromosome 3 and the short arm (p12.3) of chromosome 12. It is associated with ETV6/MECOM (EVI1) fusions, myeloproliferative disorders, myelodysplastic syndromes and acute myelogenous leukemia.)|MONDO|N|
CN305559|Any acute myeloid leukemia that has the chromosomal anomaly del(5q31-q32). (A cytogenetic abnormality that refers to deletion of chromosome bands 31-32 on the long arm of chromosome 5.)|MONDO|N|
CN305560|Any acute myeloid leukemia that has the chromosomal anomaly del(13q14-q21). (A cytogenetic abnormality that refers to deletion of chromosome bands 14-21 on the long arm of chromosome 13.)|MONDO|N|
CN305561|Any acute myeloid leukemia that has the chromosomal anomaly loss of chromosome 17p. (A cytogenetic abnormality that refers to the loss of all or part of the short arm of chromosome 17 (17p).)|MONDO|N|
CN305562|Any acute myeloid leukemia that has the chromosomal anomaly MLL gene rearrangement. (A molecular abnormality indicating rearrangement of the MLL (KMT2A) gene.)|MONDO|N|
CN305563|Any acute myeloid leukemia that has the chromosomal anomaly Non-KMT2A MLLT10 rearrangement positive. (An indication that a cytogenetic rearrangement involving MLLT10 but not involving KMT2A was detected in a sample.)|MONDO|N|
CN305564|Any acute myeloid leukemia that has the chromosomal anomaly inv(16)(p13.3;q24.3). (A pericentric chromosomal inversion that involves chromosome 16. It is associated with CBFA2T3/GLIS2 fusions and pediatric acute megakaryoblastic leukemia.)|MONDO|N|
CN305565|Any acute myeloid leukemia that has the chromosomal anomaly t(11;15)(p15;q35). (A cytogenetic abnormality that refers to the translocation of chromosome 11p15 with chromosome 15q35. It results in the formation of NUP98/JARID1A fusion gene. It is associated with the development of acute myeloid leukemia with t(11;15)(p15;q35); NUP98-JARID1A.)|MONDO|N|
CN305566|Any acute myeloid leukemia that has the chromosomal anomaly t(16;21)(q24;q22). (A cytogenetic abnormality that refers to the translocation of the long arm (q24) of chromosome 16 and the long arm (q22) of chromosome 22. It is associated with RUNX1/CBFA2T3 fusions, myelodysplastic syndromes and acute myeloid leukemia.)|MONDO|N|
CN305567|Any acute myeloid leukemia that has the chromosomal anomaly t(3;5)(q25;q34). (A cytogenetic abnormality that refers to the translocation of the long arm (q25) of chromosome 3 and the long arm (q34) of chromosome 5. It is associated with the development of acute myeloid leukemia arising from myelodysplastic syndrome, acute myeloid leukemia with multilineage dysplasia, and acute myeloid leukemia with myelodysplasia-related changes.)|MONDO|N|
CN305568|Any acute myeloid leukemia that has the chromosomal anomaly t(16;21)(p11;q22). (A chromosomal translocation involving the FUS gene on chromosome 16p11 and the ERG gene on chromosome 21q22.)|MONDO|N|
CN305569|Any acute myeloid leukemia that has the chromosomal anomaly monoallelic CEBPA gene mutation. (The presence of mutations in only one allele of the CEBPA gene.)|MONDO|N|
CN305570|Any acute myeloid leukemia that has the chromosomal anomaly biallelic CEBPA gene mutation. (The presence of mutations in both alleles of the CEBPA gene.)|MONDO|N|
CN305571|Any acute myeloid leukemia that has the chromosomal anomaly CEBPA gene mutation. (Mutation of the CEBPA gene encoding CCAAT/enhancer binding protein alpha. It is seen in acute myeloid leukemias usually associated with a normal karyotype.)|MONDO|N|
CN305572|Any acute myeloid leukemia that has the chromosomal anomaly FLT3 internal tandem duplication. (A genetic abnormality that arises from duplications of the juxtamembrane portion of the gene and results in constitutive activation of the FLT3 receptor tyrosine kinase protein in early hematopoietic progenitor cells. It is associated with acute myelogenous leukemia where it appears to correlate with a poor prognosis.)|MONDO|N|
CN305573|Any acute myeloid leukemia that has the chromosomal anomaly FLT3 tyrosine kinase domain point mutation. (Single nucleotide mutations in the tyrosine kinase domain encoded by the human FLT3 gene that are associated with acute myeloid leukemia and poor prognosis.)|MONDO|N|
CN305574|Any acute myeloid leukemia that has the chromosomal anomaly WT1 gene mutation. (A change in the nucleotide sequence of the WT1 gene.)|MONDO|N|
CN305575|Any acute myeloid leukemia that has the chromosomal anomaly KIT exon 17 mutation. (A molecular genetic abnormality indicating the presence of a mutation in exon 17 of the KIT gene located within 4q11-q12.)|MONDO|N|
CN305576|Any acute myeloid leukemia that has the chromosomal anomaly KIT exon 8 mutation. (A molecular genetic abnormality indicating the presence of a mutation in exon 8 of the KIT gene located within 4q11-q12.)|MONDO|N|
CN305577|Any acute myeloid leukemia that has the chromosomal anomaly KIT gene mutation. (A molecular genetic abnormality that refers to mutation of the c-kit (CD117) proto-oncogene. It is associated with the development of gastrointestinal stromal tumor and gastrointestinal autonomic nerve tumor. It has also been described in acute myeloid leukemias, dysgerminomas, and seminomas.)|MONDO|N|
CN305578|Any acute myeloid leukemia that has the chromosomal anomaly GATA1 gene mutation. (A change in the nucleotide sequence of the GATA1 gene.)|MONDO|N|
CN305579|Any acute myeloid leukemia that has the chromosomal anomaly RUNX1 gene mutation. (A change in the nucleotide sequence of the RUNX1 gene.)|MONDO|N|
CN305580|Any acute myeloid leukemia that has the chromosomal anomaly PTPN11 gene mutation. (Mutation of the protein tyrosine phosphatase, non-receptor type 11 gene. It is seen in cases of juvenile myelomonocytic leukemia.)|MONDO|N|
CN305581|Any acute myeloid leukemia that has the chromosomal anomaly NRAS gene mutation. (A change in the structure of the NRAS gene.)|MONDO|N|
CN305582|Any acute myeloid leukemia that has the chromosomal anomaly KRAS gene mutation. (A change in the nucleotide sequence of the KRAS gene.)|MONDO|N|
CN305585|An infectious disease caused by certain viruses or bacteria that can damage the walls of tiny blood vessels, making them leak, and can hamper the blood's ability to clot and cause severe, life-threatening illness.|MONDO|N|
CN305586|A liver disease characterized by the presence of excessive fibrous connective tissue in the liver.|MONDO|N|
CN305587|Any immunodeficiency in which the cause of the disease is a mutation in the FNIP1 gene. Disruption of Folliculin Interacting Protein 1 alters the essential metabolic regulators AMPK and mTOR, resulting in profound B-cell deficiency, hypertrophic cardiomyopathy, and pre-excitation syndrome.|MONDO|N|
CN305588|A syndrome associated with developmental delay, mild intellectual disability, microcephaly, and thrombocytopenia with platelet anisotropy and enlarged platelets.|MONDO|N|
CN305589|A retinopathy caused by a variant in the X-linked gene, RPGR.|MONDO|N|
CN305590|A retinopathy caused by biallelic variants in the AIPL1 gene.|MONDO|N|
CN305591|A retinopathy caused by a heterozygous gain of function or dominant-negative variant or in the GUCY2D gene.|MONDO|N|
CN305592|A retinopathy caused by variants in the X-linked gene, RP2.|MONDO|N|
CN305593|A retinopathy caused by bialleleic variants in the RDH5 gene, often involving flecks in the retina.|MONDO|N|
CN305594|A retinopathy caused by bialleleic variants in the RLBP1 gene, often involving flecks in the retina.|MONDO|N|
CN305595|A retinopathy caused by biallelic variants in the LCA5 gene.|MONDO|N|
CN305596|A retinopathy caused by biallelic variants in the CNGB3 gene.|MONDO|N|
CN305597|A retinopathy caused by biallelic variants in the AFT6 gene.|MONDO|N|
CN305598|A retinopathy caused by biallelic variants in the RAB28 gene.|MONDO|N|
CN305599|A disorder characterized by retinopathy with ataxia in most patients, caused by biallelic variants in the FLVCR1 gene.|MONDO|N|
CN305601|A ciliopathy caused by biallelic variants in the CEP290 gene.|MONDO|N|
CN305602|A retinopathy caused by a heterozygous gain of function variant in the RPE65 gene.|MONDO|N|
CN305603|A retinopathy caused by biallelic variants in the GUCY2D gene.|MONDO|N|
CN305604|Any inherited retinal dystrophy in which the cause of the disease is a mutation in the GUCY2D gene.|MONDO|N|
CN305605|A complex neurodevelopmental disorder characterized by a neonatal onset of recurrent seizures, an abnormal neonatal electroencephalographic background with multifocal epileptiform discharges, excessive discontinuity, and/or burst-suppression patterns, and encephalopathy. Seizures may be pharmacoresistant or responsive. Developmental delays persist but vary in severity. In some individuals, subsequent evolution to other epileptic encephalopathy syndromes (e.g. West syndrome) may occur.|MONDO|N|
CN305606|A disorder characterized onset at birth of profound encephalopathy with hypotonia, Respiratory insufficiency central hypoventilation, a persistent suppression burst pattern of EEG background, and recurrent bouts of myoclonus that are not accompanied by epileptic discharges on electroencephalography. Evolution to pharmacoresistant seizures is common and continued profound global developmental delay.|MONDO|N|
CN305607|Any syndrome in which the cause of the disease is a mutation in the MECOM gene. MECOM-associated syndrome has a variable phenotypic pattern, ranging from isolated radioulnar synostosis with no or mild hematological involvement to severe bone marrow failure without obvious skeletal abnormalities. The clinical picture can also include clinodactyly, cardiac and renal malformations, B-cell deficiency, amegakaryocytic thrombocytopenia, and presenile hearing loss.|MONDO|N|
CN305610|A rare pulmonary disease with histological pattern of interstitial pneumonitis characterized by the deposit of intra-alveolar fibrin and diffuse organizing pneumonia within the alveolar ducts and bronchioles, with large etiological spectra.|MONDO|N|
CN305611|Any autosomal dominant polycystic liver disease in which the cause of the disease is a mutation in the SEC61B gene.|MONDO|N|
CN305612|Glutaminase deficiency is characterized by refractory seizures, respiratory failure, brain abnormalities and death in the neonatal period, though milder cases with spastic ataxia-dysarthria have also been reported. This condition is caused by mutations in the glutaminase (GLS) gene.|MONDO|N|
CN305613|A hemorrhagic fever caused by bacteria. Bacterial hemorrhagic disease is rare. One example of a bacterial hemorrhagic disease is scrub typhus.|MONDO|N|
CN305615|Severe hypophosphatasia is a rare, severe form of hypophosphatasia characterized by infantile rickets without elevated serum alkaline phosphatase (ALP) activity and a wide range of clinical manifestations due to hypomineralization. Individuals often present with these features in infancy or in the perinatal period.|MONDO|N|
CN305616|Moderate hypophosphatasia is a rare, moderate form of hypophosphatasia characterized by defective mineralization of bone and/or teeth, premature loss of teeth with intact roots, and reduced serum alkaline phosphatase (ALP) activity. Individuals can present with this form of hypophosphatasia in infancy, childhood, or adulthood.|MONDO|N|
CN305617|Mild hypophosphatasia is the most common form of hypophosphatasia characterized by low alkaline phosphatase, unspecific clinical signs, and typically presents in individuals in adulthood.|MONDO|N|
CN305618|A rare form of interstitial and vascular lung disease that presents as severe pulmonary hypertension and refractory hypoxemia early in life that is characterized by a lack of misalignment of the pulmonary veins.|MONDO|N|
CN305619|Any acinar dysplasia in which the cause of the disease is a mutation in the FGF10 gene.|MONDO|N|
CN305620|Any acinar dysplasia in which the cause of the disease is a mutation in the FGFR2 gene.|MONDO|N|
CN305621|Any acinar dysplasia in which the cause of the disease is a mutation in the TBX4 gene.|MONDO|N|
CN305623|A rare form of irreversible damage to the pulmonary parenchyma often due to chronic obstructive pulmonary disease (COPD). It is associated with a spectrum of clinical manifestations, including worsening dyspnea, cough, declining pulmonary function, and occasionally spontaneous pneumothorax due to ruptured bullae.|MONDO|N|
CN305624|Serious heritable structural anomalies of the right side of the heart, including pulmonary atresia, tricuspid valve disease and Ebstein's anomaly, and right ventricular outflow tract obstruction and/or pulmonary stenosis, that are present from birth.|MONDO|N|
CN305626|Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the ALG9 gene.|MONDO|N|
CN305628|Disorder associated with pregnancy, childbirth, and puerperium.|MONDO|N|
CN305629|A disease characteristic in which the cause of the disease is known or unknown.|MONDO|N|
CN305631|A disease characteristic in which the disease has a known cause.|MONDO|N|
CN305634|A disease characteristic in which the cause of the disease is present in some of the cells of the organism, or in all the cells of the organism.|MONDO|N|
CN305637|Any myopathy in which the cause of the disease is a variation in the FKRP gene.|MONDO|N|
CN305638|Any myopathy in which the cause of the disease is a variation in the FKTN gene.|MONDO|N|
CN305639|Any myopathy in which the cause of the disease is a variation in the POMGNT1 gene.|MONDO|N|
CN305640|Any myopathy in which the cause of the disease is a variation in the POMGNT2 gene.|MONDO|N|
CN305641|Any myopathy in which the cause of the disease is a variation in the POMT1 gene.|MONDO|N|
CN305642|Any myopathy in which the cause of the disease is a variation in the POMT2 gene.|MONDO|N|
CN305643|Any congenital muscular dystrophy in which the cause of the disease is a variation in the POMGNT2 gene.|MONDO|N|
CN305644|Any myopathy in which the cause of the disease is a variation in the GMPPB gene.|MONDO|N|
CN305645|A chromosomal disorder consisting of the presence of three chromosomes of the same type in addition to the normal diploid number.|MONDO|N|
CN305646|An infection of the intervertebral disk space.|MONDO|N|
CN305647|Discitis caused by infection with Staphylococcus.|MONDO|N|
CN305648|Discitis caused by infection with Escherichia coli.|MONDO|N|
CN305649|Discitis caused by infection with Streptococcus pneumoniae.|MONDO|N|
CN305650|Discitis caused by infection with Salmonella.|MONDO|N|
CN305667|A carcinoma that arises from the extrahepatic bile ducts. It is characterized by the presence of glandular and squamous malignant epithelial components.|MONDO|N|
CN305775|An embryonal pediatric tumor of the kidney which may also be seen rarely in adults. The peak incidence of Wilms tumor is between the second and fifth year of life. Microscopically, it is composed of a mixture of cellular elements (blastemal, stromal, and epithelial). The most common sites of metastasis include the regional lymph nodes, lungs, and liver.|MONDO|N|
CN305781|An umbrella term for diseases which have chronic muscle inflammation and weakness of unknown etiology. The types of idiopathic inflammatory myopathy are further defined by either clinicopathologic criteria or by the presence of certain autoantibodies.|MONDO|N|
CN305968|A small vessel vasculitis affecting the skin and/or internal organs. It is characterized by the presence of neutrophils and fibrinoid necrosis in small arteries and venules. It may be idiopathic or the result of drug treatment, infections, food intake, collagen vascular disorders, inflammatory bowel disease, or cancer.|MONDO|N|
CN305970|A central nervous system vasculitis that has a benign course, with acute onset of neurologic symptoms, usually in the form of severe headache and/or a focal neurologic event.|MONDO|N|
CN305984|A benign sweat gland neoplasm usually occurring in the scalp or the face. It may present as solitary or multiple papular or nodular lesions. It may be a sporadic lesion or part of Brooke-Spiegler syndrome. It arises from the dermis and has a multinodular, circumscribed appearance. The nodules contain basaloid cells with small, dark nuclei. Complete excision is usually curative.|MONDO|N|
CN305988|Mild mental deficiency, short stature, macrocranium, cardiac anomalies, cutis laxa, peculiar facies, wrinkled palms and soles, small vertebral bodies|MONDO|N|
CN305989|A Brenner tumor that involves the vagina.|MONDO|N|
CN305992|A syndrome characterized by severe intrauterine growth retardation, psychomotor delay and recurrent infections, craniofacial dysostosis, a progeroid appearance, arthrogryposis and camptodactylia.|MONDO|N|
CN306025|An inborn errors of metabolism disorder caused by homozygosity for mutations in the TAP2 gene. It is characterizeed by nonhealing, chronic, ulcerative granulomatous leg lesions combined with recurrent otitis media and sinopulmonary infections.|MONDO|N|
CN306234|Excessive shedding of dry scaly material from the scalp in humans.|MONDO|N|
CN306405|Teebi hypertelorism syndrome-1 (TBHS1) is an autosomal dominant disorder characterized by hypertelorism with upslanting palpebral fissures, prominent forehead, broad and depressed nasal bridge with short nose, thick eyebrows, and widow's peak. Additional features include small broad hands with mild interdigital webbing and shawl scrotum. Umbilical malformations, cardiac defects, natal teeth, cleft lip/palate, congenital diaphragmatic hernia, and malformations of the central nervous system (ventriculomegaly, abnormal corpus callosum) have also been reported. Development is typically normal, although some patients with developmental delays have been reported (summary by Bhoj et al., 2015).
Genetic Heterogeneity of Teebi Hypertelorism Syndrome
Teebi hypertelorism syndrome-2 (TBHS2; 619736) is caused by mutation in the CDH11 gene (600023) on chromosome 16q21.|OMIM|N|
CN306834|An instance of ichthyosis vulgaris in which the disease presentation is mild in severity. Heterozygote FLG mutation carriers often have mild manifestations.|MONDO|N|
CN306835|An instance of ichthyosis vulgaris in which the disease presentation is severe in severity. Homozygous FLG mutation carriers often have more severe manifestations.|MONDO|N|
CN306840|A type of drug-resistant tuberculosis that is resistant to all first- and second-line antitubercular drugs tested (isoniazid, rifampicin, streptomycin, ethambutol, pyrazinamide, ethionamide, para-aminosalicylic acid, cycloserine, ofloxacin, amikacin, ciprofloxacin, capreomycin, kanamycin).|MONDO|N|
CN306841|A vitreoretinopathy caused by variants in the TSPAN12 gene.|MONDO|N|
CN306842|Chromosomal disorder in which chromosome 1 is affected.|MONDO|N|
CN306843|Chromosomal disorder in which chromosome 2 is affected.|MONDO|N|
CN306844|Chromosomal disorder in which chromosome 3 is affected.|MONDO|N|
CN306845|Chromosomal disorder in which chromosome 4 is affected.|MONDO|N|
CN306846|Chromosomal disorder in which chromosome 5 is affected.|MONDO|N|
CN306847|Chromosomal disorder in which chromosome 6 is affected.|MONDO|N|
CN306848|Chromosomal disorder in which chromosome 7 is affected.|MONDO|N|
CN306849|Chromosomal disorder in which chromosome 9 is affected.|MONDO|N|
CN306850|Chromosomal disorder in which chromosome 10 is affected.|MONDO|N|
CN306851|Chromosomal disorder in which chromosome 11 is affected.|MONDO|N|
CN306852|Chromosomal disorder in which chromosome 12 is affected.|MONDO|N|
CN306853|Chromosomal disorder in which chromosome 13 is affected.|MONDO|N|
CN306854|Chromosomal disorder in which chromosome 14 is affected.|MONDO|N|
CN306855|Chromosomal disorder in which chromosome 15 is affected.|MONDO|N|
CN306856|Chromosomal disorder in which chromosome 16 is affected.|MONDO|N|
CN306857|Chromosomal disorder in which chromosome 19 is affected.|MONDO|N|
CN306858|Chromosomal disorder in which chromosome 20 is affected.|MONDO|N|
CN306859|Chromosomal disorder in which chromosome 22 is affected.|MONDO|N|
CN306860|Chromosomal disorder in which chromosome X is affected.|MONDO|N|
CN306861|Chromosomal disorder in which chromosome Y is affected.|MONDO|N|
CN306863|Trisomy 21 characterized by the presence of an extra chromosome 21 in all the cells of the organism.|MONDO|N|
CN306864|Trisomy 18 in which the presence of an extra copy of chromosome 18 is present only in some of the cells of the organism.|MONDO|N|
CN306866|Trisomy 13 in which the presence of an extra copy of chromosome 13 is present in all the cells of the organism.|MONDO|N|
CN306867|Trisomy 13 in which the presence of an extra copy of chromosome 13 is present only in some of the cells of the organism.|MONDO|N|
CN306868|A chromosomal disorder consisting of the absence of one chromosome 8.|MONDO|N|
CN306869|A rare testicular sex cord-stromal neoplasm characterized by mixed features of both fibroma and thecoma.|MONDO|N|
CN306871|Disorder caused by mutations in the various subunits composing the BAF complex.|MONDO|N|
CN306872|Chromosomal disorder in which chromosome 21 is affected.|MONDO|N|
CN306873|Chromosomal disorder in which chromosome 18 is affected.|MONDO|N|
CN306874|Translocation Down syndrome in which the extra (partial or total) copy of chromosome 21 attached to another chromosome is present in some of the cells of the organism.|MONDO|N|
CN306875|A chromosomal disorder consisting of the partial duplication of chromosome 21.|MONDO|N|
CN306938|Any BAFopathy in which the cause of the disease is a mutation in the ACTL6A gene.|MONDO|N|
CN306939|Any BAFopathy in which the cause of the disease is a mutation in the PBRM1 gene.|MONDO|N|
CN306940|Variants in SMARCC1 cause a novel human syndrome characterized by developmental delay, cerebral ventriculomegaly and aqueductal stenosis, and other associated structural brain and cardiac defects.|MONDO|N|
CN306977|Individuals with NGLY1-related congenital disorder of deglycosylation (NGLY1-CDDG) typically display a clinical tetrad of developmental delay / intellectual disability in the mild to profound range, hypo- or alacrima, elevated liver transaminases that may spontaneously resolve in childhood, and a complex hyperkinetic movement disorder that can include choreiform, athetoid, dystonic, myoclonic, action tremor, and dysmetric movements. About half of affected individuals will develop clinical seizures. Other findings may include obstructive and/or central sleep apnea, oral motor defects that affect feeding ability, auditory neuropathy, constipation, scoliosis, and peripheral neuropathy.|GeneReviews|N|
CN307042|Hereditary clinical entity whose mode of inheritance is unknown.|ORDO|N|
CN307043|No information is available in the scientific literature on heredity of the clinical entity.|ORDO|N|
CN307044|clinical entity without genetic inheritance.|ORDO|N|
CN307960|Statins are among the most commonly prescribed drugs in the world to treat hypercholesterolemia and prevent cardiovascular diseases. They effectively lower cholesterol levels by inhibiting the HMG-CoA reductase to reduce cholesterol synthesis. Though well tolerated in general, the most common statin side effect is statin-associated musculoskeletal symptoms (SAMS) which range from myalgia, myopathy to fatal rhabdomyolysis, especially when statins are administered at higher doses and with certain other medications. Genetic variations in genes encoding the statin transporters, SLCO1B1 and ABCG2, and metabolizing enzyme, CYP2C9, have been shown to affect systemic plasma concentrations of statins and are associated with increased risk for SAMS. Guidelines regarding the use of pharmacogenomic tests in dosing for statins have been published in Clinical Pharmacology and Therapeutics by the Clinical Pharmacogenetics Implementation Consortium (CPIC) and are available on the CPIC and PharmGKB websites. The CPIC guideline provides specific therapeutic recommendations for simvastatin, atorvastatin, lovastatin, pravastatin and pitavastatin based on SLCO1B1 phenotype; rosuvastatin based on SLCO1B1 and ABCG2 phenotypes; and fluvastatin based on SLCO1B1 and CYP2C9 phenotypes. It serves as a guide for selecting the most appropriate statin and the optimal dose if pharmacogenetic test results are available.|PharmGKB|N|
CN307964|Neurodevelopmental disorder with epilepsy and hemochromatosis (NEDEPH) is an X-linked recessive disorder characterized by global developmental delay, early-onset seizures, and progressive systemic iron deposition particularly affecting the liver and resulting in juvenile-onset hemochromatosis. Variable additional features may include joint contractures, visual or hearing impairment, and skin abnormalities (summary by Swoboda et al., 2014 and Muckenthaler et al., 2022).|OMIM|N|
CN308011|A rare genetic hyperthyroidism characterized by elevated levels of circulating free thyroid hormones, normal or elevated thyroid-stimulating hormone, decreased peripheral tissue responses to iodothyronine action, and a highly variable clinical phenotype which most commonly includes goiter, resting tachycardia, osteoporosis, short stature, and attention deficit disorder. Some patients may be entirely asymptomatic.|ORDO|N|
CN311519|Any neurodevelopmental disorder in which the cause of the disease is a mutation in the KCNH1 gene. Variants in KCNH1 cause significant neurodevelopmental disabilities that lie along a phenotypic spectrum ranging from non-syndromic to syndromic. The most common phenotypes associated with variants in KCNH1 include intellectual disability, seizures, hypotonia, absence or hypoplasia of nails, and gingival enlargement. Hypoplastic terminal phalanges of fingers and toes, proximal placement and long thumb, and long toes present less frequently.|MONDO|N|
CN311520|A platelet disorder in which the cause of the disease is a variant in the TPM4 gene.|MONDO|N|
CN311521|Germline pathogenic or likely pathogenic variants in the CDH1 gene predispose to hereditary diffuse gastric cancer, a cancer susceptibility syndrome inherited in an autosomal dominant pattern, initially characterized by the increased risk for diffuse gastric cancer (DGC) but subsequently well documented to be associated with lobular breast cancer (LBC) in women.|MONDO|N|
CN311570|Koolen-De Vries syndrome (KDVS) is characterized by moderately to severely impaired intellectual development, hypotonia, friendly demeanor, and highly distinctive facial features, including tall, broad forehead, long face, upslanting palpebral fissures, epicanthal folds, tubular nose with bulbous nasal tip, and large ears. More variable features include cardiac or genitourinary anomalies and seizures (summary by Koolen et al., 2012).|OMIM|N|
CN311571|Congenital aplastic deformities of the breast include amastia (total absence of breasts and nipple), athelia (absence of the nipple), and amazia (absence of the mammary gland). Most common is amastia. Bilateral absence of the breasts may occur as an isolated anomaly or may be associated with a syndrome or a cluster of other anomalies, including anhidrotic ectodermal dysplasia (305100) and Poland syndrome (173800) (summary by Papadimitriou et al., 2009).
Genetic Heterogeneity of Aplasia or Hypoplasia of Breasts and/or Nipples
An autosomal recessive form of breast and/or nipple aplasia or hypoplasia (BNAH2; 616001) is caused by mutation in the PTPRF gene (179590) on chromosome 1p34.|OMIM|N|
CN311573|A rare, genetic, skeletal muscle channelopathy characterized by slow muscle relaxation after contraction (myotonia).|ORDO|N|
CN312498|A rare ciliopathy characterized by oral anomalies (multiple oral frenula, missing incisors), facial dysmorphism (such as square face with small forehead, upslanting palpebral fissures, and cleft lip, among other features), digital anomalies (brachydactyly, brachymesophalangy, polydactyly), and short stature. Additional reported manifestations include short femoral neck, bilateral cervical ribs, abnormal vertebral bodies, and gracile long bones.|ORDO|N|
CN312502|A rare eyelid malposition disorder characterized by congenital abnormal inversion of the eyelid towards the globe, potentially causing mechanical irritation of the ocular surface by the eyelashes, which may lead to corneal abrasion and scarring with visual impairment. Typical initial symptoms are foreign body sensation, redness, tearing, and ocular discharge.|ORDO|N|
CN312528|A rare genetic neurological disorder characterized by early onset of microcephaly, severe global developmental delay and cognitive impairment, dyskinesia and hyperkinetic movements, visual impairment, autistic behavior, stereotypies, sleep disturbance, epilepsy, and cerebral malformations (such as corpus callosum hypogenesis, forebrain anomaly, and delayed myelination). Speech is minimal or absent, and ambulation is not attained. Patients with a larger 14q12 microdeletion show a more severe phenotype than those with intragenic alterations, with the addition of facial dysmorphism and agenesis of the corpus callosum.|ORDO|N|
CN312549|A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by almost complete lack of B-cells and severe hypogammaglobulinemia, anomalies of the hands and feet, urogenital malformations, and characteristic facial dysmorphism (including microcephaly, highly arched eyebrows, hypoplastic alae nasi, and micrognathia). Most patients are developmentally normal, although moderate mental retardation has also been described.|ORDO|N|
CN312554|A rare genetic primary lymphedema characterized by uniform, widespread lymphedema, often with systemic involvement such as intestinal and pulmonary lymphangiectasia, pleural and pericardial effusions, and chylothorax. There is a high incidence of non-immune hydrops fetalis, which may result in fetal demise or fully resolve after birth. Severe, recurrent facial cellulitis is observed in some patients. Presence of epicanthic folds or micrognathia has occasionally been reported, while intelligence is normal, and seizures are absent.|ORDO|N|
CN312620|An abscess that involves the liver.|MONDO|N|
CN312622|Disorder of fetal brain growth; individuals have small brains and almost always have mental retardation, although rare individuals with mild microcephaly (-3 SD) and normal intelligence have been reported. Clinical features include the features of ‘microcephaly 6, primary, autosomal recessive’ and 'Seckel syndrome', and may include short stature or mild seizures.|MONDO|N|
CN312623|KIF1A-associated neurological disorder (KAND) encompasses a group of rare neurodegenerative conditions caused by variants in KIF1A|MONDO|N|
CN312625|Any MELAS syndromein which the cause of the disease is a mutation in the MTTL1 gene.|MONDO|N|
CN312626|Any MELAS syndromein which the cause of the disease is a mutation in the MTTQ gene.|MONDO|N|
CN312627|Any MELAS syndromein which the cause of the disease is a mutation in the MTTH gene.|MONDO|N|
CN312628|Any MELAS syndromein which the cause of the disease is a mutation in the MTTK gene.|MONDO|N|
CN312629|Any MELAS syndromein which the cause of the disease is a mutation in the MTTC gene.|MONDO|N|
CN312630|Any MELAS syndromein which the cause of the disease is a mutation in the MTTS1 gene.|MONDO|N|
CN312631|Any MELAS syndromein which the cause of the disease is a mutation in the MTND1 gene.|MONDO|N|
CN312632|Any MELAS syndromein which the cause of the disease is a mutation in the MTND5 gene.|MONDO|N|
CN312633|Any MELAS syndromein which the cause of the disease is a mutation in the MTND6 gene.|MONDO|N|
CN312634|Any MELAS syndromein which the cause of the disease is a mutation in the MTTS2 gene.|MONDO|N|
CN313132|Vibratory urticaria is a rare, genetic urticaria characterized by the development of localized, short-lasting (resolving within 1 hour), pruritic, erythematous, edematous hives in response to repetitive frictional or vibratory stimulation of the skin, which in some cases is accompanied by facial flushing, headache or the sensation of a metallic taste. Concomitant local mast cell degranulation and increased histamine serum levels are additional typical findings.|ORDO|N|
CN315554|Pneumocystis carinii pneumonia is an opportunistic infection that occurs in immunosuppressed populations.|HPO|N|
CN315570|Classic form of Timothy syndrome, includes all features of generic.|MONDO|N|
CN315579|An autosomal recessive inborn disorder of cobalamin metabolism caused by biallelic variants in MMADHC. Depending on the type and location of variants in MMADHC, patients may present with methylmalonic aciduria, homocystinuria, or both. MMADHC has been reported to result in the cblD complementation group of cobalamin disorders.|MONDO|N|
CN315647|A complex neurodevelopmental disorder that involves more than one phenotype associated with the central nervous system, including but not limited to intellectual disability, autism, and seizures (epilepsy), in addition to one or more structural or functional anomaly(ies) that develops prenatally.|MONDO|N|
CN315649|Autosomal recessive form of TTN-related myopathy.|MONDO|N|
CN315650|Autosomal dominant form of TTN-related myopathy.|MONDO|N|
CN315651|A rare myopathy characterized by weakness of the muscles of the anterior compartment of lower limbs. Described as a more severe tibial muscular dystrophy phenotype, distal titinopathy is associated with earlier onset and progression to include soleus muscle and proximal muscles.|MONDO|N|
CN315652|A rare inherited muscular dystrophy characterized by the coexistence of limb-girdle weakness and early-onset diffuse joint contractures without cardiomyopathy.|MONDO|N|
CN315653|A prenatal/infant-onset muscle disorder characterized by limb contractures, muscle weakness (often with significant axial involvement), long bone fractures, and/or cardiac abnormalities.|MONDO|N|
CN315656|Any vascular malformation in which the cause of the disease is a variation in the EPHB4 gene.|MONDO|N|
CN315659|A skeletal dysplsia characterized by primordial dwarfism, an extreme growth deficiency disorder that has its onset during embryonic development and persists throughout life and slender bone disorder, a heterogeneous group of neonatal dwarfism syndromes, usually of unknown etiology, associated with gracile (thin) bones, multiple fractures, and prenatal or early postnatal death.|MONDO|N|
CN315660|A skeletal dysplasia characterized by osteogenesis imperfecta and decreased bone density.|MONDO|N|
CN315661|Any skeletal dysplasia that is characterizedby polydactyly, syndactyly and triphalangism, where a digit has three phalanges instead of two.|MONDO|N|
CN315663|An instance of spondylodysplastic dysplasia that has a high degree of severity.|MONDO|N|
CN315667|A skeletal dysplasia where osteoid becomes calcified.|MONDO|N|
CN315668|A retinopathy caused by heterozygous variants in the SNRNP200 gene.|MONDO|N|
CN315669|A retinopathy, typically severe, and early onset, caused by biallelic variants in the RDH12 gene.|MONDO|N|
CN315670|A retinopathy caused by gain of function, heterozygous variants in the RDH12 gene, and associated with late onset retinopathy with a mild phenotype, characterized by nyctalopia and visual field loss, but relatively preserved central vision.|MONDO|N|
CN315671|A retinopathy, typically severe and early onset, caused by biallelic variants in the NMNAT1 gene. Some patients have been reported to have spondyloepiphyseal dysplasia syndrome, including sensorineural hearing loss, intellectual disability in addition to retinopathy. However, additional studies are needed to definitively describe this disease association.|MONDO|N|
CN315672|A retinopathy, typically described as achromatopsia, caused by biallelic variants in the CNGA3 gene.|MONDO|N|
CN315775|Treacher Collins syndrome (TCS) is characterized by bilateral and symmetric downslanting palpebral fissures, malar hypoplasia, micrognathia, and external ear abnormalities. Hypoplasia of the zygomatic bones and mandible can cause significant feeding and respiratory difficulties. About 40%-50% of individuals have conductive hearing loss attributed most commonly to malformation of the ossicles and hypoplasia of the middle ear cavities. Inner ear structures tend to be normal. Other, less common abnormalities include cleft palate and unilateral or bilateral choanal stenosis or atresia. Typically intellect is normal.|GeneReviews|N|
CN315794|A condition beginning in the first day of life that results from inadequate surfactant production, causing increased work of breathing and impaired gas exchange.|MONDO|N|
CN315845|Nonsteroidal Anti-inflammatory Drugs (NSAIDs) are among the most commonly prescribed drugs to treat pain, fever and inflammation. The main therapeutic effect of NSAIDs occurs via blocking the production of prostaglandin that cause inflammation. Hepatic metabolism by cytochrome P450 isoforms CYP2C9, 1A2, and 3A4, and renal excretion are the principal routes of clearance of the majority of NSAIDs.  Genetic variants in CYP2C9 (e.g., CYP2C9*2 and *3), along with other genetics and clinical factors, have been shown to affect systemic plasma concentrations of NSAIDs and potentially safety. Patients with CYP2C9 decreased or no function alleles may have elevated exposure and at increased risk for adverse effects. Guidelines regarding the use of pharmacogenomic tests in dosing for NSAIDs have been published in Clinical Pharmacology and Therapeutics by the Clinical Pharmacogenetics Implementation Consortium (CPIC) and are available on the CPIC and PharmGKB websites. The CPIC guideline provides specific therapeutic recommendations for a number of NSAIDs (celecoxib, flurbiprofen, ibuprofen, lornoxicam, meloxicam, piroxicam and tenoxicam) based on CYP2C9 genotype.|PharmGKB|N|
CN315923|Any inherited porphyria in which the cause of the disease is monoallelic or biallelic variants in the UROD gene.|MONDO|N|
CN315924|Biallelic constitutional/germline loss-of-function NTHL1 variants confer predisposition to tumor formation demonstrating ‘COSMIC Signature 30’ mutation profile. Tumors have been reported at multiple primary sites; in particular adenomatous polyposis of colon (~10-50 polyps), colorectal cancer, and breast cancer.|MONDO|N|
CN315925|A neurodevelopmental disorder in which the cause of the disease is a mutation in the DPH5 gene, which is characterized by craniofacial dysmorphology, profound neurodevelopmental delay, multisystem abnormalities, and miscarriages.|MONDO|N|
CN315926|A fungal infectious disease that involves the toenail.|MONDO|N|
CN315927|Dermatitis caused by an allergic reaction to ingested food.|MONDO|N|
CN315928|An autosomal recessive, multisystem condition caused by pathogenic variants of the ERCC6 gene, encoding the DNA excision repair protein, ERCC-6. Cockayne spectrum with or without cerebrooculofacioskeletal syndrome is characterized by growth failure at birth, with little or no postnatal neurologic development in addition to congenital cataracts or other structural anomalies of the eye, early postnatal contractures of the spine (kyphosis, scoliosis) and joints, and death usually occurring by age five years. This term lumps Cockayne syndrome type 2/B (CSB), cerebrooculofacioskeletal syndrome 1 (COFS syndrome), and De Sanctis-Cacchione syndrome into a spectrum of disease.|MONDO|N|
CN315930|Chromosomal disorder in which (part or full) chromosome 21 has been exchange with another chromosome, resulting in the presence of a third copy of (part or full) chromosome 21 genetic material. A reciprocal translocation is a chromosome abnormality caused by exchange of parts between non-homologous chromosomes.|MONDO|N|
CN315931|Robertsonian translocation Down syndrome in which translocation displacement of the end regions of chromosomes occured without loss of chromosomal material between the two nonhomologous chromosomes.|MONDO|N|
CN315932|Robertsonian translocation Down syndrome in which translocation displacement of the end regions of chromosomes occured with loss of chromosomal material between the two nonhomologous chromosomes.|MONDO|N|
CN316033|Aminoglycosides are widely used antibiotics which inhibit protein synthesis in bacteria by binding to bacterial 16S ribosomal subunits. Aminoglycosides are associated with a number of adverse events, including nephrotoxicity and ototoxicity. The risk of aminoglycoside-induced ototoxicity is increased in patients who carry certain variants in the MT-RNR1 gene. MT-RNR1 is found in the mitochondrial genome and encodes the 12S ribosomal subunit. Some MT-RNR1 variants cause the 12S subunit to more closely resemble the bacterial 16S subunit, which can lead to aminoglycoside molecules binding to the ribosome. This ultimately results in hearing loss due to cell death in the cochlea. The Clinical Pharmacogenetics Implementation Consortium (CPIC) have published recommendations on aminoglycoside use in patients carrying MT-RNR1 variants in the journal Clinical Pharmacology and Therapeutics. These recommendations are also available on the CPIC and PharmGKB websites.|PharmGKB|N|
CN322236|Beta-thalassemia (ß-thalassemia) is characterized by reduced synthesis of the hemoglobin subunit beta (hemoglobin beta chain) that results in microcytic hypochromic anemia, an abnormal peripheral blood smear with nucleated red blood cells, and reduced amounts of hemoglobin A (HbA) on hemoglobin analysis. Individuals with thalassemia major have severe anemia and hepatosplenomegaly; they usually come to medical attention within the first two years of life. Without treatment, affected children have severe failure to thrive and shortened life expectancy. Treatment with a regular transfusion program and chelation therapy, aimed at reducing transfusion iron overload, allows for normal growth and development and may improve the overall prognosis. Individuals with thalassemia intermedia present later and have milder anemia that does not require regular treatment with blood transfusion. These individuals are at risk for iron overload secondary to increased intestinal absorption of iron as a result of ineffective erythropoiesis.|GeneReviews|N|
CN322239|A pathological condition resulting from chronic exposure to hypoxia at high altitude. The syndrome is characterized by an excessive number of red blood cells associated with a high blood hemoglobin concentration ([Hb]), hypoxemia, and, in some cases, pulmonary hypertension. Clinical signs include headache, fatigue, sleep disturbances, dyspnea, digestive complaints, and high risk of thrombotic events.|MONDO|N|
CN322240|An inherited metabolic disease that has its basis in the disruption of peptide and/or amine metabolic process.|MONDO|N|
CN322241|An inherited metabolic disease that has its basis in the disruption of methylamine metabolic process.|MONDO|N|
CN322242|A neurodevelopmental disorder that is caused by genetic modifications where those modifications are inherited from a parent's genome.|MONDO|N|
CN322243|Any ciliopathy in which the cause of the disease is biallelic variants in the IFT140 gene.|MONDO|N|
CN322244|A complex neurodevelopmental disorder that involves more than one phenotype associated with the central nervous system, including but not limited to intellectual disability, autism, and seizures (epilepsy). Additionally, the disorder features at least one phenotype associated with motor function, including but not limited to spasticity, hypo- or hypertonia, dyskinesia, choreo-athetosis, or ataxia.|MONDO|N|
CN322248|An immunodeficiency disease caused by a variation in the CRACR2A gene.|MONDO|N|
CN322249|Any interstitial lung disease specific to childhood caused by a loss-of-function variation in the FLNA gene. Female children are reported more often. Rare male patients with loss-of-function FLNA mutation-associated lung disease with residual protein function can survive into infancy with a severe form of the phenotype.|MONDO|N|
CN322250|Any non-severe combined immunodeficiency caused by a deficiency in the COPG1 gene.|MONDO|N|
CN322251|A monogenic autoinflammatory disorder caused by a de novo activating mutation, p.Tyr515*, in hematopoietic cell kinase (HCK). The disease is characterized by cutaneous vasculitis and chronic pulmonary inflammation that progresses to fibrosis.|MONDO|N|
CN322252|An autoimmune disease caused by a loss-of-function variation in the IKZF1/IKAROSgene. Leukocytes of patients exhibited specific defects including impaired IL-2 production by T cells, T helper (TH) skewing toward TH2, low numbers of regulatory T cells (Treg), eosinophilia, and abnormal PC proliferation.|MONDO|N|
CN322253|A non-severe combined immunodeficiency caused by a loss-of-function variation in the IKZF2 gene that is characterized by recurrent upper respiratory infections, thrush and mucosal ulcers, and chronic lymphadenopathy.|MONDO|N|
CN322254|Any non-severe combined immunodeficiency in which the cause of the disease is variation in the ITPKB gene.|MONDO|N|
CN322255|Any non-severe combined immunodeficiency in which the cause of the disease is variation in the MAN2B2 gene.|MONDO|N|
CN322256|An immunodeficiency disease caused by a variation in MAPK8, the gene encoding c-Jun N-terminal kinase 1 (JNK1), that is characterized by chronic mucocutaneous candidiasis and a connective tissue disorder that clinically overlaps with Ehlers-Danlos syndrome (EDS).|MONDO|N|
CN322257|Cytomegalovirus pneumonia due to variant in the NOS2 gene.|MONDO|N|
CN322258|An autoimmune disease that is characterized by a lack of PD-1 on patient peripheral blood mononuclear cells (PBMCs) and reduced IFN production in response to mycobacterial stimuli.|MONDO|N|
CN322259|Any non-severe combined immunodeficiency in which the cause of the disease is variation in the POLD1/POLD2 gene.|MONDO|N|
CN322260|Any agammaglobulinemia in which the cause of the disease is autosomal recessive deficiency in the BOB1 gene.|MONDO|N|
CN322261|Any genetic hemophagocytic lymphohistiocytosis in which the cause of the disease is an autosomal recessive variation in the RHOG gene.|MONDO|N|
CN322262|Any autoinflammatory syndrome in which the cause of the disease is an autosomal recessive variation in the TBK1 gene.|MONDO|N|
CN322263|Any commonn variable immunodeficiency in which the cause of the disease is an autosomal recessive variation in the TNFS13 gene.|MONDO|N|
CN322264|An inherited disorder of carbohydrate metabolism that is has its basis in the disruption of galactose and/or fructose metabolic process.|MONDO|N|
CN322265|A disorder of amino acid metabolism that has its basis in the disruption of the urea cycle or an inherited hyperammonemia (any specific disease which causes an inherited increased concentration of ammonia in the blood).|MONDO|N|
CN322266|A disorder of amino acid metabolism that has its basis in the disruption of the metabolism of sulfur-containing amino acids and/or hydrogen sulfide.|MONDO|N|
CN322267|A disorder of amino acid metabolism that has its basis in the disruption of the metabolism of glycine and/or serine.|MONDO|N|
CN322268|A disorder of amino acid metabolism that has its basis in the disruption of the metabolism of ornithine, proline and/or hydroxyproline.|MONDO|N|
CN322269|A disorder of amino acid metabolism that has its basis in the disruption of the metabolism of lysine, hydroxylysine, and/or tryptophan.|MONDO|N|
CN322270|A disorder of amino acid metabolism that has its basis in the disruption of the metabolism of glutamate/glutamine and aspartate/asparagine.|MONDO|N|
CN322271|An inherited metabolic disease that has its basis in the disruption of the polyamine metabolic process.|MONDO|N|
CN322311|A familial congenital mirror movement disorder where individuals with heterozygous variants in DCC have congenital mirror movements and/or agenesis of the corpus callosum (not with or without- some individuals do not demonstrate mirror movements and only have corpus callosum defects, even within the same family).|MONDO|N|
CN322312|A brain disorder caused by pathogenic variants in NFIA that is characterized by developmental delay, corpus callosum agenesis/hypoplasia and craniofacial dysmorphism, such as macrocephaly (caused by hydrocephalus or ventriculomegaly), low-set ears, anteverted nostrils and micrognathia. Urinary tract defects (e.g. vesicoureteral reflux, urinary incontinence) are also frequently associated. Other reported variable manifestations include hypotonia, tethered spinal cord, Chiari type I malformation and seizures.|MONDO|N|
CN322437|An inherited susceptibility or predisposition to developing basal cell carcinoma.|MONDO|N|
CN322438|A interstial lung disease characterized by the presence of persistent or intermittent tachypnea (usually noticed in neonatal period or after an acute infection for the first time in first months of life), crackles in 86 %, retractions in 82%, failure to thrive in 66%, chest wall abnormalities in 22% and hypoxemia or desaturation in 88%.|MONDO|N|
CN322439|Persistent tachypnoe of infancy that presents with additional minor abnormalities upon scanning, including ground-glass opacities in other locations, focal consolidations, parenchymal cysts or bronchial wall thickening (N=80; 37%).|MONDO|N|
CN322440|Persistent tachypnoe of infancy that presents with with no other airway or parenchymal abnormalities upon scanning (N=80; 63%).|MONDO|N|
CN322441|A type of asthma that isn't related to an allergy trigger like pollen or dust, and is less common than atopic asthma.|MONDO|N|
CN322443|A polyclonal hyperplasia of bronchiolar associated lymphoid tissue characterized by the development of lymphoid follicles with germinal centers in walls of the small airways.|MONDO|N|
CN322445|A botryomycosis that involves internal organs such as lungs, liver, or brain. It is a rare disease and has been described mainly in patients with underlying diseases such as diabetes mellitus, cystic fibrosis, or HIV infection. It is most commonly affecting the lungs, although involvement of other organs including liver, spleen, kidney, and brain has also been described.|MONDO|N|
CN322447|A rare lung condidtion characterized by often predominantly unilateral lung hyperlucency and air trapping. The condition is a post-infectious form of bronchiolitis obliterans and typically follows a viral respiratory infection in infancy and childhood. Adenovirus infection is considered the most usual epidemiology. In SJS, the involved lung or portion of the lung does not grow normally and is slightly smaller than the opposite lung: in particular, peripheral branches of the pulmonary vessels do not develop, and vasculature is arreseted at the stage at which the infection occurred. Patients respond well to management with bronchodilators, even though this is not primarily a bronchial abnormality.|MONDO|N|
CN322448|An interstitial lung disease specific to infancy that is characterized by tachypnea at birth and persistent disease, diffuse interstitial thickening due to pale oval and spindle-shaped histiocytes without scarring.|MONDO|N|
CN322449|An interstitial lung disease characterized histologically by fibrosis and/or inflammation confined to the alveolar interstitium around bronchovascular bundles, overlapping with peribronchial metaplasia, fibrosis in some series and the lack of interstitial granulomas.|MONDO|N|
CN322450|A rare concurrent association of idiopathic pulmonary hemosiderosis and celiac disease, and is typically seen in children under the age of 15.|MONDO|N|
CN322451|A necrotizing vasculitis characterized by widespread small-vessel giant cell angitis and extravascular granulomas.|MONDO|N|
CN322452|A rare lung disorder characterized by ectopic bone formation within lung parenchyma. DPO can be idiopathic or associated with a variety of cardiovascular, respiratory diseases or other disorders. There are mainly two forms of DPO: nodular and dendriform.|MONDO|N|
CN322453|Any combined immunodeficiency due to a deficiency in the POLE2 gene.|MONDO|N|
CN322454|An inherited susceptibility or predisposition to developing encephalitis, acute, infection-induced.|MONDO|N|
CN322455|Local and/or systemic toxicity resulting from a bite from a black widow spider (Latrodectus species).|MONDO|N|
CN322456|Progressive, bilateral, and irreversible sensorineural hearing loss as a frequently encountered side effect of platinum-based chemotherapy such as cisplatin and carboplatin.|MONDO|N|
CN322457|A bacterial infection of the joint that is a complication occurring in 1% to 2% of primary arthroplasties.|MONDO|N|
CN322458|Any inherited porphyria in which the cause of the disease is monoallelic or biallelic variants in the CPOX gene.|MONDO|N|
CN322459|Any primary mitochondrial disease in which the cause of the disease is monoallelic or biallelic variants in the OPA1 gene. While optic atrophy is present in most affected cases, OPA1 is a mitochondrial protein and thus features of this disease include abnormal mitochondrial morphology and multiple mitochondrial DNA deletions, and can affect other organ systems and. Extraocular features can include progressive sensorineural hearing impairment, cognitive impairment, peripheral neuropathy, myopathy, ragged-red muscle fibers, and exercise-induced lactic acidemia, while additional ocular features can include progressive visual loss, central scotoma, and color vision abnormalities.|MONDO|N|
CN322460|Any primary hereditary glaucoma in which the cause of the disease is a mutation in the TEK gene.|MONDO|N|
CN322461|Any eye disorder in which the cause of the disease is a mutation in the PAX6 gene.|MONDO|N|
CN322572|An inherited susceptibility or predisposition to developing narcolepsy.|MONDO|N|
CN322573|An autosomal recessive mucolipidosis disorder caused by bi-allelic variants in the GNPTAB gene. Symptoms of this condition occur across a clinical spectrum including mucolipidosis type II (ML II) and mucolipidosis type III alpha/beta (ML IIIa/ß), and phenotypes intermediate between ML II and ML IIIa/ß.|MONDO|N|
CN322574|Bronchiolitis as a response to a toxic exposure.|MONDO|N|
CN322576|An autosomal recessive, multisystem condition caused by pathogenic variants of the PNPLA6 gene, encoding the patatin like phospholipase domain containing 6 protein. RAPH syndrome is characterized by hypogonadism, cerebellar ataxia, retinal dystrophy, peripheral neuropathy, growth hormone deficiency, and cognitive impairment. Additional clinical features may include lower limb spasticity, trichomegaly, alopecia, and facial dismorphism. The term lumps Boucher-Neuhauser, Gordon Holmes, Laurence-Moon, and Oliver-McFarlene syndromes.|MONDO|N|
CN322577|Abnormally high blood pressure in a newborn child.|MONDO|N|
CN322578|Any intellectual disability in which the cause of the disease is a mutation in the PPP2R1A gene.|MONDO|N|
CN322579|An inherited susceptibility or predisposition to developing psoriasis.|MONDO|N|
CN322580|An inherited susceptibility or predisposition to developing age related macular degeneration.|MONDO|N|
CN322581|An inherited susceptibility or predisposition to developing atopic dermatitis.|MONDO|N|
CN322582|An inherited susceptibility or predisposition to developing Hirschsprung disease.|MONDO|N|
CN322584|A brain disorder caused by biallelic variants in NDE1 that is characterized by extreme microcephaly (typically head circumference of more than 10 standard deviations (SD) below the mean), profound motor and intellectual disability, spasticity, and incomplete cerebral formation. Radiologic studies demonstrate overt microcephaly with cortical dysgenesis ranging from simplification to pachygyria/lissencephaly to hydranencephaly. Agenesis of the corpus callosum as well as hypoplasia of the brainstem and cerebellum are typically present.|MONDO|N|
CN322585|A complex movement disorder characterized by tremor, rigidity, bradykinesia, chorea, reduced facial expression, and Parkinsonism-dystonia. This disease is caused by loss of function variants in the SLC6A3 gene, which impair the dopamine transporter protein. The onset of this disease ranges from infancy to adulthood.|MONDO|N|
CN322586|A subset of SLC6A3-related DTDS cases which have later onset which ranges from late childhood to adulthood. This disorder is characterized by the presentation of parkinsonism-dystonia, rigidity, tremor, and bradykinesia after normal childhood development.|MONDO|N|
CN322590|A heavy metal poisoning that is caused by exposure to cessium.|MONDO|N|
CN322593|A poisoning that is caused by exposure to sulfur mustard. The effects of mustard poisoning may be local, systemic, or both, depending on environmental conditions, exposed organs, and the extent and duration of exposure. The toxic effects of mustard include inhibition of mitosis, NAD depletion, decreased tissue respiration and finally cell death.|MONDO|N|
CN322594|A poisoning that is caused by exposure to cardiac glycoside.|MONDO|N|
CN322595|A poisoning that is caused by exposure to monochloroacetic acid.|MONDO|N|
CN322596|Toxicities following administration of chemotherapeutic agents|MONDO|N|
CN322597|An inherited retinopathy caused by bi-allelic variants in the EYS gene.|MONDO|N|
CN322598|An inherited retinopathy caused by bi-allelic variants in the GNAT2 gene.|MONDO|N|
CN322599|An inherited retinopathy caused by bi-allelic variants in the IDH3B gene.|MONDO|N|
CN322600|An inherited retinopathy caused by bi-allelic variants in the MERTK gene.|MONDO|N|
CN322601|An inherited retinopathy caused by variants in the PRPF31 gene.|MONDO|N|
CN322602|An inherited retinopathy caused by bi-allelic variants in the GPR179 gene.|MONDO|N|
CN322603|An inherited retinopathy caused by bi-allelic variants in the GRM6 gene.|MONDO|N|
CN322604|An inherited retinopathy caused by bi-allelic variants in the ADAM9 gene.|MONDO|N|
CN322605|An autosomal dominant retinopathy caused by variants in the RP1 gene.|MONDO|N|
CN322606|An inherited retinopathy caused by bi-allelic variants in the RP1 gene.|MONDO|N|
CN322607|An inherited retinopathy caused by bi-allelic variants in the CERKL gene.|MONDO|N|
CN322608|An inherited retinopathy caused by bi-allelic variants in the TRPM1 gene.|MONDO|N|
CN322609|An inherited retinopathy caused by bi-allelic variants in the CNGB1 gene.|MONDO|N|
CN322610|An inherited retinopathy caused by bi-allelic variants in the PCARE gene.|MONDO|N|
CN322611|An inherited retinopathy caused by bi-allelic variants in the CNGA1 gene.|MONDO|N|
CN322612|An inherited retinopathy caused by bi-allelic variants in the ABCA4 gene.|MONDO|N|
CN322613|An X-linked retinopathy caused by variants in the NYX gene.|MONDO|N|
CN322634|A tubulinopathy syndrome associated with malformations of cortical development, axon guidance defects, white matter abnormalities, and/or congenital fibrosis of the extraocular muscles (CFEOM), due to de novo or dominantly inherited variants with high penetrance. Individuals may present with variable combinations of malformations of cortical development, dysplasia of the basal ganglia, brainstem, and/or cerebellum, CFEOM, additional cranial nerve involvement, Kallmann syndrome, cyclic vomiting, peripheral neuropathy, and/or contractures. Developmental delays, intellectual disability, ocular motor apraxia, and mirror movements are also frequent features.|MONDO|N|
CN322643|Any corneal dystrophy (disease) in which the cause of the disease is a mutation in the TGFBI gene.|MONDO|N|
CN322647|An inherited susceptibility or predisposition to developing restless legs syndrome.|MONDO|N|
CN322657|A dopa-responsive dystonia characterized by marked motor delay, but no intellectual disablity, and only minimal, if any, hyperphenylalaninemia.|MONDO|N|
CN322660|An inherited susceptibility or predisposition to developing atopic dermatitis. A genomewide linkage study revealed highly significant evidence for linkage on 3q21 (ATOD1) at marker D3S3606.|MONDO|N|
CN322662|A very rare anomaly (1 in 14,000 to 42,000 pregnancies; 1 in 7500 fetuses from 10 to 14?weeks of gestation) characterized by a complex anomaly of the anterior abdominal wall, severe kyphoscoliosis, rudimentary umbilical cord, and anatomical defects of the pelvis and lower limbs.|MONDO|N|
CN322666|This syndrome is characterized by the onset of seizures between 3 and 20 months of age (peak 6 months). Seizures may be frequent at onset but usually remit within 1 year from the onset. In untreated cases there can be isolated or brief clusters of seizures within the period from onset to remission. A minority of individuals may have epilepsy in later life. Some patients (with PRRT2 mutations) may develop paroxysmal kinesiogenic dyskinesia in later life.|MONDO|N|
CN322742|Nonsteroidal Anti-inflammatory Drugs (NSAIDs) are among the most commonly prescribed drugs to treat pain, fever and inflammation. The main therapeutic effect of NSAIDs occurs via blocking the production of prostaglandin that cause inflammation. Hepatic metabolism by cytochrome P450 isoforms CYP2C9, 1A2, and 3A4, and renal excretion are the principal routes of clearance of the majority of NSAIDs.  Genetic variants in CYP2C9 (e.g., CYP2C9*2 and *3), along with other genetics and clinical factors, have been shown to affect systemic plasma concentrations of NSAIDs and potentially safety. Patients with CYP2C9 decreased or no function alleles may have elevated exposure and at increased risk for adverse effects. Guidelines regarding the use of pharmacogenomic tests in dosing for NSAIDs have been published in Clinical Pharmacology and Therapeutics by the Clinical Pharmacogenetics Implementation Consortium (CPIC) and are available on the CPIC and PharmGKB websites. The CPIC guideline provides specific therapeutic recommendations for a number of NSAIDs (celecoxib, flurbiprofen, ibuprofen, lornoxicam, meloxicam, piroxicam and tenoxicam) based on CYP2C9 genotype.|PharmGKB|N|
CN322745|Primaquine is a potent antimalarial medication indicated for the radical cure of malaria caused by Plasmodium vivax (P. vivax) and Plasmodium ovale (P. ovale) species. Malaria is a blood borne infection caused by infection of Plasmodium parasites that is spread by mosquitos. The P. vivax and P. ovale species present a particular challenge to treat because the parasitic life cycle includes a dormant, liver-specific stage that is not susceptible to other antimalarial medications. Thus, primaquine is often used with other therapies such as chloroquine or artemisinin-based medicines that target the reproductive, active forms of the parasite. Primaquine is also used to prevent transmission of malaria caused by Plasmodium falciparum (P. falciparum) species. A single, low dose (SLD) of primaquine has gametocidal activity, which does not cure the individual but does provide malaria transmission control.
Primaquine is a pro-drug that must be activated by the cytochrome P450 (CYP) enzyme system. Metabolism by the cytochrome P450 member 2D6 (CYP2D6) and cytochrome P450 nicotinamide adenine dinucleotide phosphate (NADPH):oxidoreductase (CPR) generates 2 hydroxylated active metabolites that generate hydrogen peroxide (H2O2). This causes significant oxidative stress to the malarial parasite and the host human cells. Individuals who are glucose-6-phosphate dehydrogenase (G6PD) deficient are particularly susceptible to oxidative stress and may experience acute hemolytic anemia (AHA). Before starting a course of primaquine, individuals should be tested for G6PD deficiency to ensure safe administration. According to the FDA-approved drug label, individuals with severe G6PD deficiency should not take primaquine.
The World Health Organization (WHO) recommends that individuals with G6PD deficiency should be treated with a modified course of primaquine therapy. The recommended course for individuals with G6PD deficiency is a single dose once per week for 8 weeks, while the standard course is daily administration for 14 days. The Clinical Pharmacogenetics Implementation Consortium (CPIC) reports that the risk of adverse effects of primaquine therapy for G6PD-deficient individuals is dose-dependent, with the SLD regimen presenting the least risk.
Primaquine is contraindicated during pregnancy and is not recommended for breastfeeding individuals when the G6PD status of the baby is unknown. Primaquine is not approved for individuals under 6 months of age. Individuals with acute illness that are prone to granulocytopenia or individuals taking another hemolytic medication are also contraindicated from taking primaquine.|Medical Genetics Summaries|N|
CN322772|An autosomal recessive, multisystem condition caused by pathogenic variants of the PNPLA6 gene that characterized by peripheral neuropathy, cognitive impairment, lower limb spasticity, muscle weakness, and reduced vibration sense. Additional clinical features may include cerebellar ataxia, hypogonadism, growth hormone deficiency, and hypothyroidism.|MONDO|N|
CN322773|Any recessive immunodeficiency (ID), with or without ectodermal dysplasia (EDA), in which the cause of the disease is mutation in the IKBKG gene. ID/EDA-ID patients, always males, are hemizygous for an IKBKG (NEMO) mutation that preserves residual NF-?B activation (hypomorphic mutations) and may also present with osteopetrosis and lymphoedema (OL-EDA-ID).|MONDO|N|
CN322774|A heterogeneous group of genetic conditions, with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology that are characterized by abnormalities in the kidney or urinary system.|MONDO|N|
CN322775|An instance of encephalopathy that is caused by an inherited genomic modification in an individual.|MONDO|N|
CN322777|Microcephaly characterized by both microcephaly and atypical neurodevelopment, without other commonly reported non-brain related phenotypes.|MONDO|N|
CN322778|Epilepsy starting in the first 12 months of life, including self-limiting and refractory seizures, and epilepsies with and without developmental disorders.|MONDO|N|
CN322832|A rare, autosomal recessive inherited syndrome caused by mutations in the MMP2 gene. It is characterized by the presence of multiple, painless subcutaneous nodules, osteolysis particularly in the hands and feet, osteoporosis, and arthropathy.|MONDO|N|
CN322834|A tubulinopathy syndrome often associated with microtubule dysfunction, malformations of the corpus callosum, enlarged ventricles, dysgyria, abnormal basal ganglia, cerebellar vermis hypoplasia/dysplasia, and decreased white matter, due to heterozygous variants in TUBB2A. Individuals may present with variable combinations of malformations of the corpus callosum, enlarged ventricles, dysgyria, abnormal basal ganglia, cerebellar vermis hypoplasia/dysplasia, and decreased white matter. Epilepsy, speech impairment, and motor impairment are also frequent features.|MONDO|N|
CN322971|A benign epithelial-lined cystic lesion that can occur anywhere in the neuraxis. Neuroepithelial cysts are ependymal or epithelial lined fluid collections of unknown etiology within the central nervous system parenchyma with no obvious ventricular or subarachnoid connection. Most cysts are asymptomatic, however, some present with seizures, mass effect, or rarely with movement disorders. On imaging, they present as CSF-like parenchymal cysts with smooth, rounded borders and minimal or no surrounding signal intensity abnormality.|HPO|N|
CN322997|A cancer of the ureter that most often arises in the distal third of the ureter and is often diagnosed during the sixth and seventh decades of life. The most common presentation is gross hematuria or flank pain.|HPO|N|
CN323193|TPM3-related myopathy is a disorder of the musculoskeletal system that covers a wide spectrum of phenotypes and is caused by pathogenic variants in the skeletal muscle ?-Tropomyosin gene. These variants lead to a variety of overlapping adult onset and congenital myopathies characterized by muscle weakness, hypotonia, motor delay, myopathic facies, scoliosis, and sometimes respiratory involvement. Histologic findings on skeletal muscle biopsy are variable with nemaline and intranuclear bodies, cap-like lesions, fiber-type disproportion, and dystrophic features even in patients with the same mutation.|MONDO|N|
CN323253|Enlargement of the chamber of the left heart ventricle.|HPO|N|
CN323265|A benign tumor arising from the epithelial surface of the cervix and usually caused by Human Papillomavirus infection.|HPO|N|
CN323271|A type of genetically determined disease of the cornea with corneal lesions with a band-like shape.|HPO|N|
CN323274|A spectrum of presentations resulting from biallelic protein-altering variation in CHRNG. Inactivation of the receptor during early development leads to prenatal hypo-akinesia; subsequent phenotypes are a consequence of this hypo-akinesia and are thought to be dependent upon timing and severity of the anomaly at the neuromuscular junction. A range of phenotypes varying in severity (including both lethal and non-lethal presentations) have been reported, but typically include joint contractures, pterygia, dysmorphic features, vertebral and thoracic anomalies, and additional variable abnormalities. There are no clear genotype-phenotype correlations between the lethal and non-lethal presentations of this spectrum; both inter- and intra-familial variability have been reported, with the same variants being observed in both lethal and non-lethal cases.|MONDO|N|
CN323276|An epilepsy syndrome associated with infantile period seizures, complete or nearly-complete seizure remission afterwards, usually good developmental outcome, and dominant transmission with high penetrance in pedigrees. For most affected infants, seizures begin within the first week after term birth. In a minority, however, seizures can begin after the first week but within the first several months of life. At onset, seizures may be highly recurrent, and often feature unilateral tonic limb stiffening that may alternate sides from seizure to seizure, accompanied by cyanosis and autonomic features. Limb shaking movements occur, but not in the evolving rhythmic pattern of tonic-clonic convulsions in older individuals. Neurological examination of the infant is normal between seizures. Although these seizures remit by 4-12 months of age in the majority, 15-30% of those affected have one or more seizure recurrences later, including febrile seizures, focal-onset seizures, and convulsions. Although most affected children show typical development, individuals with mild learning difficulties have been reported in families where the majority develop typically.|MONDO|N|
CN323278|Any motor neuron disease in which the cause of the disease is a mutation in the ALS2 gene.|MONDO|N|
CN323279|Any anterior segment dysgenesis in which the cause of the disease is a mutation in the FOXC1 gene.|MONDO|N|
CN323280|Any ocular dysgenesis disorder in which the cause of the disease is a mutation in the LTBP2 gene.|MONDO|N|
CN323281|A progressive complex neurodevelopmental condition caused by variants in the CACNA1A gene. Phenotypic onset (usually) occurs around age 1 and most often includes intellectual disability but can also include epileptic encephalopathy, benign paroxysmal torticollis of infancy and paroxysmal tonic upgaze psychomotor delay, learning difficulties, absence epilepsy, episodic ataxia, and hemiplegic migraines.|MONDO|N|
CN323282|Withdrawal syndrome involving the abrupt discontinuation of baclofen therapy (intrathecal or oral). Baclofen withdrawal syndrome can result in high fever, altered mental status (including agitation, insomnia, confusion, delusions, hallucinations, seizures, visual changes, or psychosis), and potentially profound muscular rigidity that sometimes progresses to fatal rhabdomyolysis.|MONDO|N|
CN323283|Osteoporosis occuring in premenopausal women with existing fragility fractures, diseases or treatments known to cause bone loss or fractures.|MONDO|N|
CN323360|Developmental delay with short stature, dysmorphic facial features, and sparse hair-1 (DEDSSH1) is an autosomal recessive syndromic disorder characterized by the constellation of these features apparent from infancy. Craniosynostosis most often with a broad forehead, central nervous system malformations, cardiac defects, genital anomalies, or hypotonia may also be present (summary by Urreizti et al., 2020).
Genetic Heterogeneity of Developmental Delay with Short Stature, Dysmorphic Facial Features, and Sparse Hair
DEDSSH2 (620062) is caused by mutation in the DPH2 gene (603456) on chromosome 1p34.|OMIM|N|
CN323387|X-linked form of cone-rod dystrophy.|MONDO|N|
CN323671|Any congenital heart disease in which the cause of the disease is a mutation in the GATA4 gene.|MONDO|N|
CN323672|An instance of skin disease that is caused by a modification of the individual's genome.|MONDO|N|
CN323675|Neoplasm associated with the expression of a Neurotrophic Tyrosine Receptor Kinase (NTRK) Fusion. NTRK fusion-positive tumors have been identified in a broad range of solid tumor types, including breast, cholangiocarcinoma, colorectal, gynecological, neuroendocrine, non-small cell lung, salivary gland, pancreatic, sarcoma and thyroid cancers.|MONDO|N|
CN323676|Neoplasm associated with expression of a RET (REarranged during Transfection) fusion. RET fusion-positive tumors have been identified in a broad range of solid tumor types, including multiple endocrine neoplasia 2 (MEN2), papillary thyroid carcinoma (PTC), non-small cell lung cancer (NSCLC), invasive breast cancers, and pancreatic ductal adenocarcinomas in addition to colorectal adenocarcinoma, melanoma, small cell lung cancer, neuroblastoma, and small intestine neuroendocrine tumors.|MONDO|N|
CN323729|A very serious type of heart attack during which one of the heart’s major arteries (one of the arteries that supplies oxygen and nutrient-rich blood to the heart muscle) is blocked. ST-segment elevation is an abnormality detected on the 12-lead ECG.|MONDO|N|
CN323971|Reduced ability to control, or a failure to resist a temptation, urge, or impulse.|HPO|N|
CN323984|Hyperresponsive to sound that is abnormal in intensity and/or frequency.|HPO|N|
CN324009|A cognitive disorder that is characterized by the presence of significant and persistent cognitive complaints.|MONDO|N|
CN324013|A sarcomatoid transitional cell carcinoma that is located in the bladder.|MONDO|N|
CN324014|A bladder carcinoma that is characterized as an undifferentiated neoplasm composed of primitive-appearing cells.|MONDO|N|
CN324015|A coronary artery disease that is characterized by atherosclerotic plaque that would not be expected to obstruct blood flow or result in anginal symptoms and stenosis of coronary artery less than 50 percent.|MONDO|N|
CN324017|A B-cell lymphoma that is characterized by the abnormal rearrangement of two genes, MYC gene and either BCL2 or BCL6 genes.|MONDO|N|
CN324018|A peritoneal benign neoplasm that is characterized by the presence of prominent hemangiopericytoma-like vessels.|MONDO|N|
CN324020|A fetal alcohol spectrum disorder that is characterized by one or more deficits in neurocognition and in self-regulation plus two or more deficits in adaptive functioning, with at least 1 in communication or social communication and interaction.|MONDO|N|
CN324021|An amino acid metabolic disorder that are characterized phenotypically by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits and that has material basis in autosomal recessive mutations in the genes encoding enzymes involved in the synthesis or regeneration of BH4.|MONDO|N|
CN324029|Germline pathogenic or likely pathogenic variants in the CTNNA1 gene predispose to hereditary diffuse gastric cancer and lobular breast cancer, a cancer susceptibility syndrome inherited in an autosomal dominant pattern.|MONDO|N|
CN324030|An autosomal dominant hereditary syndrome caused by germline pathogenic POLE variants. It is characterized by the presence of colorectal polyps and colorectal cancer.|MONDO|N|
CN324033|PAX5 deficiency causing neurodevelopmental abnormalities including autism spectrum disorder in addition to hypogammaglobulinemia due to early B cell developmental block and impaired immune responses.|MONDO|N|
CN324034|A sphingolipidosis caused by variants in the PSAP gene. Clinical and biochemical features vary based on the location of variants within the gene and their molecular impact.|MONDO|N|
CN324036|Disease that occurs as a consequence of immunosuppression in a recipient of a solid organ transplant, or as a consequence of the transplantation.|MONDO|N|
CN324037|Disease that occurs as a consequence of immunosuppression in a recipient of a hematopoietic stem cell transplant, or as a consequence of the transplantation.|MONDO|N|
CN324038|An instance of muscle tissue disorder that is caused by an inherited genomic modification in an individual.|MONDO|N|
CN324043|A cell type cancer that is composed of epithelial tissue in which tumor cells form glands or glandlike structures, representing an early form of colorectal cancer.|MONDO|N|
CN324044|A male reproductive system disease that is located in the epididymis.|MONDO|N|
CN324047|A kidney benign neoplasm that is located in the kidney cortex.|MONDO|N|
CN324048|A lymph node cancer that has material basis in abnormally proliferating cells derives from epithelial cells.|MONDO|N|
CN324049|A sensory system benign neoplasm that is located in the auditory system.|MONDO|N|
CN324050|A B-lymphoblastic leukemia/lymphoma that is characterized by the presence of lymphoblasts that carry a translocation between the KMT2A gene at 11q23.3 and another gene partner resulting in the production of a KMT2A related fusion protein.|MONDO|N|
CN324051|A B-lymphoblastic leukemia/lymphoma that is characterized by the presence of lymphoblasts that carry a translocation between the TEL gene on chromosome 12 and the AML1 gene on chromosome 21, (p13.2;q22.1). It results in the production of the TEL-AML1 (ETV6-RUNX1) fusion protein.|MONDO|N|
CN324052|A B-lymphoblastic leukemia/lymphoma that is characterized by the presence of lymphoblasts that carry a translocation between the IL3 gene on chromosome 5 and the IGH locus on chromosome 14, (q31.1;q32.3).|MONDO|N|
CN324053|A B-lymphoblastic leukemia/lymphoma that has a gene expression profile similar to that of B-ALL with t(9;22)(q34.1;q11.2) BCR-ABL1, but lacks that gene fusion.|MONDO|N|
CN324054|A B-lymphoblastic leukemia/lymphoma that is characterized by amplification of a portion of chromosome 21.|MONDO|N|
CN324056|A primary immunodeficiency disease that involves multiple components of the immune system, including both T cell and NK cell immunodeficiency.|MONDO|N|
CN324065|Annular epidermolytic ichthyosis-1 (AEI1) is characterized by the development of widespread erythematous blistering in the neonatal period or early childhood that subsides over time. Patients later show hyperkeratotic lichenified plaques over flexural and extensor surfaces, and experience episodic annular and polycyclic erythematous plaques over the trunk and proximal extremities (Joh et al., 1997; Suga et al., 1998).
Genetic Heterogeneity of Annular epidermolytic ichthyosis
AEI2 (620148) is caused by mutation in the KRT1 gene (139350) on chromosome 12q13.|OMIM|N|
CN324066|Attention deficit-hyperactivity disorder (ADHD) is the most common childhood-onset behavioral disorder, affecting approximately 5 to 10% of children and adolescents (Wolraich et al., 1996). In this condition, persistent inattention and/or hyperactive-impulsive behavior results in impaired social and/or academic functioning. Boys are affected about 8 times more frequently than girls (Zametkin et al., 1990).
Genetic Heterogeneity of Attention Deficit-Hyperactivity Disorder
Susceptibility to ADHD7 (607478) may be conferred by variation in the TPH2 gene (607478) on chromosome 12q21. ADHD8 (619957) is caused by mutation in the CDH2 gene (114020) on chromosome 18q12.
Several loci for susceptibility to ADHD have been mapped, including ADHD1 (608903) on chromosome 16p13, ADHD2 (608904) on chromosome 17p11, ADHD3 (608905) on chromosome 6q12, ADHD4 (608906) on chromosome 5p13, ADHD5 (612311) on 2q21.1, and ADHD6 (612312) on 13q12.11. Also see MOLECULAR GENETICS.|OMIM|N|
CN324070|An instance of gallbladder disorder that is caused by an inherited genomic modification in an individual.|MONDO|N|
CN327016|Autosomal recessive spastic paraplegia-70 (SPG70) is characterized by onset of symptoms in infancy, including delayed walking and difficulties walking due to spasticity of the lower limbs; upper limbs may also be involved. Additional features may include global developmental delay with variably impaired intellectual development, speech delay, feeding difficulties, and dysmorphic facial features (Okamoto et al., 2022).|OMIM|N|
CN327047|Myopathy caused by pathogenic variants in SELENON that is congenital or present early in childhood with neonatal hypotonia, delayed motor development, axial muscle weakness, scoliosis, and significant respiratory involvement. Spinal rigidity of varying severity is often present.|MONDO|N|
CN327100|Any disorder of glycogen metabolism in which the cause of disease is a mutation in the GYG1 gene.|MONDO|N|
CN327102|A form of pseudohypoaldosteronism that is characterized Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology.|MONDO|N|
CN327104|A poisoning that is caused by exposure to a nerve agent or gas.|MONDO|N|
CN327105|A poisoning that is caused by exposure to a local anesthetic.|MONDO|N|
CN327106|A poisoning that is caused by exposure to a fire ant bite or sting. Fire ants tend to be an aggressive insect that will sting causing very painful reactions. There are two types of fire ants which belong to the Solenopsis species.|MONDO|N|
CN327107|Primary microcephaly refers to the clinical finding of a head circumference more than than 3 standard deviations (SD) below the age- and sex-related mean, present at birth. Primary microcephaly is a static developmental anomaly, distinguished from secondary microcephaly, which refers to a progressive neurodegenerative condition. Microcephaly is a disorder of fetal brain growth; individuals with microcephaly have small brains and almost always have intellectual disability, although rare individuals with mild microcephaly (-3 SD) and normal intelligence have been reported. Additional clinical features may include short stature or mild seizures. These clinical features include Seckel syndrome, a rare autosomal recessive disorder characterized by intrauterine growth retardation, dwarfism, microcephaly with intellectual disability.|MONDO|N|
CN327122|Autosomal dominant epidermolytic hyperkeratosis-2A (EHK2A) is a skin disorder characterized by blistering, keratoderma, and erythroderma. Severity and body involvement show clinical heterogeneity (summary by Syder et al., 1994). While the neonatal presentation is often blistering and redness, the primary features of the disorder are hyperkeratosis (thickening of the uppermost layer of the epidermis, the stratum corneum) and blistering (summary by Chipev et al., 1994).
For a discussion of genetic heterogeneity of epidermolytic hyperkeratosis, see EHK1 (113800).|OMIM|N|
CN327126|An instance of focal segmental glomerulosclerosis that is caused by an inherited genomic modification in an individual.|MONDO|N|
CN371974|Dilated blood vessels on the skin.|HPO|N|
CN372009|Malignant hyperthermia that is characterized by a rapid increase in temperature to 39-42 degrees C in response to inhalational anesthetics such as halothane or to muscle relaxants such as succinylcholine.|HPO|N|
CN372039|A neurofibroma (benign peripheral nerve sheath tumor) localized in the heart.|HPO|N|
CN372085|An autosomal dominant hereditary syndrome caused by germline pathogenic POLD1 variants. It is characterized by the presence of colorectal polyps and colorectal cancer.|MONDO|N|
CN372086|A lissencephaly spectrum disorder that manifests as posterior predominant pachygyria (ranging from mild severity to classic lissencephaly) and brainstem malformations which include brainstem dysplasia (typically with reduced anteroposterior thickness and transverse broadening of the pons/medulla) and midline crossing defects (anterior commissure, transverse pontine fibers, pyramidal tract, callosum hypoplasia).|MONDO|N|
CN372087|Multiple congenital anomalies caused by imprinting defects at 14q32.2 include Kagami-Ogata syndrome and Temple syndrome. Kagami-Ogata syndrome is characterized by typical facial features, skeletal abnormalities (including "coat-hanger ribs", and bell-shaped thorax), abdominal wall defects, and developmental delay, and is caused by defects or absence of maternally derived imprinting signals (including paternal UPD14). Temple syndrome is a less specific phenotype including intrauterine and postnatal growth restriction, hypotonia, feeding difficulties in infancy, truncal obesity, and small feet and hands. Temple syndrome is caused by defects or absence of paternally derived imprinting signals (including maternal UPD14).|MONDO|N|
CN372088|Temple syndrome is a less specific phenotype including intrauterine and postnatal growth restriction, hypotonia, feeding difficulties in infancy, truncal obesity, and small feet and hands. Temple syndrome is caused by defects or absence of paternally derived imprinting signals (including maternal UPD14).|MONDO|N|
CN372091|A disorder that involves more than one phenotype associated with the central nervous system, including but not limited to intellectual disability, autism, and seizures (epilepsy), and also a distinctive pattern of other features including dysmorphisms and/or congenital malformations.|MONDO|N|
CN372092|A heart disease that is present at birth caused by a variation in HAND1. Representative examples include ventricular septal defect, tetralogy of Fallot, and double outlet right ventricle.|MONDO|N|
CN372093|A heart disease that includes congenital heart defects, abnormal cardiac conduction or myopathy. Congenital heart defects consists of any heart disease that is present at birth. Representative examples include atrial septal defect, ventricular septal defect, tetralogy of Fallot, and hypoplastic left heart syndrome.|MONDO|N|
CN372094|A heart disease that is present at birth that is caused by a variation in MYH-6. Representative examples include atrial septal defect, ventricular septal defect, tetralogy of Fallot and hypoplastic left heart syndrome.|MONDO|N|
CN372095|A neurodevelopmental disorder characterized predominantly by intellectual disability, speech delay, motor delay, autism, sleep disturbances, and a high pain threshold. This disorder may be inherited in an autosomal dominant or autosomal recessive manner, likely due to mono-allelic variant resulting in altered function and bi-allelic variants resulting in loss of function, respectively.|MONDO|N|
CN372097|A form of male infertility that is characterized by a combination of low number or oligozoospermia, poor motility or asthenozoospermia, and abnormal shape or teratozoospermia of sperms. OAT is the most common cause of male subfertility.|MONDO|N|
CN372100|A sex cord-stromal benign neoplasm that arises from the testis.|MONDO|N|
CN372103|A kidney disease that is located in the kidney cortex.|MONDO|N|
CN372110|A pancreatic adenocarcinoma that derives from epithelial cells originating in glandular tissue, which produce mucin.|MONDO|N|
CN372115|A chronic asthma that is triggered by an allergen and that is characterized by an immune system overreaction to a harmless substance, such as pollen or dust, with the subsequent release of immunoglobin E (IgE) antibodies.|MONDO|N|
CN372116|An intrinsic asthma that is characterized by exposure to tobacco smoke and other inflammatory gasses or particulate matter.|MONDO|N|
CN372117|An intrinsic asthma that is characterized by narrowing of the airways during or shortly after exercise.|MONDO|N|
CN372118|An intrinsic asthma that is characertized by severe and prolonged airway obstruction after the ingestion of aspirin or other non-steroidal anti-inflammatory drugs.|MONDO|N|
CN372119|A disease caused by infection with Human betaherpesvirus 5.|MONDO|N|
CN372123|An anaplastic astrocytoma carrying IDH mutations.|MONDO|N|
CN372124|An anaplastic astrocytoma lacking mutations in IDH1 or IDH2 genes.|MONDO|N|
CN372125|A glioblastoma that is characterized by high cellularity, high mitotic activity, necrosis or microvascular proliferation and that lacks mutations in IDH genes.|MONDO|N|
CN372128|A rhabdomyosarcoma located in the oral cavity.|MONDO|N|
CN372129|An astroblastoma that is characterized by astroblastoma-like morphology with MN1 rearrangements involving the meningioma 1 (MN1) gene on chromosome 22q.|MONDO|N|
CN372131|An amyloidosis that is characterized by both Ig heavy chains and LC contribute to the amyloid fibrils.|MONDO|N|
CN372132|A myopathy that is characterized by muscle breakdown (rhabdomyolysis), heat and exertion-related muscle pain (myalgia) and cramping symptoms, severe muscle pain, sudden elevation and subsequent fall of serum creatine phosphokinase levels and products of muscle breakdown in the urine (myoglobinuria). Associated with RYR1 variations. Rhabdomyolysis is associated with a range of external triggers, including strenuous exercise beyond the limit of fatigue, heat stress, illicit drug or alcohol abuse, use of supplements or certain medications, recent viral illness or muscle trauma.|MONDO|N|
CN372133|An epilepsy that is characterized by new-onset refractory seizures along with subacute progressive cognitive decline and behavioral or psychiatric dysfunction.|MONDO|N|
CN372134|A tuberculosis that is characterized by cerebral edema sometimes with features similar to acute disseminated encephalomyelitis (ADEM) and may manifest with a variety of symptoms ranging from focal neurological deficits to convulsions and decreased conscious state.|MONDO|N|
CN372139|An acute biphenotypic leukemia that is characterized by blasts that also carry the translocation t(9;22)(q34.1;q11.2) by karyotypic analysis or the BCR-ABL1 translocation by FISH or PCR.|MONDO|N|
CN372140|An acute biphenotypic leukemia that is characterized by blasts which carry a translocation between the MLL (KMT2A) gene at 11q23.3 and another gene partner.|MONDO|N|
CN372142|An acute biphenotypic leukemia that is characterized by blasts that express antigens of both T and myeloid antigens.|MONDO|N|
CN372149|An acute myeloid leukemia associated with t(8;21)(q22;q22) resulting in RUNX1-RUNX1T1 fusion protein expression. The bone marrow and the peripheral blood show large myeloblasts with abundant basophilic cytoplasm, often containing azurophilic granules.|MONDO|N|
CN372150|An acute myeloid leukemia typically showing megakaryocytic maturation and associated with t(1;22)(p13;q13), resulting in the expression of RBM15-MKL1 fusion protein.|MONDO|N|
CN372151|An anthrax disease that is characterized by infection at the injection site or deep under the skin or in the muscle where the drug was injected and is caused by heroin contaminated with anthrax spores.|MONDO|N|
CN372156|A syndrome that is characterized by developmental delay, hypotrophy, and dysmorphic features and that has material basis in homozygous ultra-rare REV3L variant (T2753R).|MONDO|N|
CN372167|A syndrome that is characterized by fatigue, problems with memory or concentration, joint and muscle pain, hair loss, weight changes and anxiety/depression. This syndrome may be related to breast implants|MONDO|N|
CN372168|A keratosis pilaris atrophicans that is characterized by scar-like follicular depressions and loss of hair primarily in the eyebrow area.|MONDO|N|
CN372169|A low-grade glioma that occurs in children and encompasses tumors of astrocytic, oligodendroglial, and mixed glial-neuronal histology.|MONDO|N|
CN372171|A central nervous system neuroblastoma that is characterized by FOXR2 activation and that is composed of small, round cells with hyperchromatic nuclei surrounded by a clear halo.|MONDO|N|
CN372173|A low grade glioma that is characterized by a gene alteration that results in a MAPK pathway abnormality, with morphological features of astrocytoma or oligodendroglioma.|MONDO|N|
CN372174|A diffuse astrocytoma that is a diffusely infiltrative astroglial neoplasm composed of monomorphic cells with genetic alterations in MYB or MYBL1.|MONDO|N|
CN372195|An autoimmune disease of skin and connective tissue that is characterized by subepidermal blistering especially in the lower abdomen, groin, and flexor surfaces of the extremities, creating tense blisters that do not break easily.|MONDO|N|
CN372281|A benign (noncancerous) tumorlike malformation made up of an abnormal mixture of cells and tissues that originates in the small intestine.|HPO|N|
CN372319|The NKX2-1 gene is located on chromosome 14 at 14q13.3 and encodes the NK2 homeobox 1 protein, a transcription factor that binds and activates thyroid specific genes. NKX2-1 was first reported in relation to autosomal dominant NKX2-1 related choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction in 1998.|MONDO|N|
CN372320|An autosomal dominant condition caused by pathogenic variants of the NOG gene, encoding the noggin protein. Five overlapping clinical syndromes associated with NOG mutations have been described; proximal symphalangism, multiple synostoses syndrome 1, tarsal-carpal coalition syndrome, stapes ankylosis with broad thumbs and toes, and brachydactyly type B2. NOG-related symphalangism spectrum disorder is a new term initially proposed by Potti et al., 2011 to encompass these disorders. NOG-SSD is characterized by proximal symphalangism, conductive deafness caused by stapes ankylosis, ocular abnormality such as hyperopia and strabismus, and characteristic facial features including a broad, tubular-shaped nose and a thin upper vermilion.|MONDO|N|
CN372321|Heterozygous variants in SPAST have been reported in relation to pure spastic paraplegias (infantile, ascending), complicated or complex spastic paraplegia (with dementia, cerebellar ataxia, epilepsy, and/or peripheral neuropathy) and cerebral palsy. Age of symptom onset ranges from neonatal to advanced age with varying symptom severity,|MONDO|N|
CN372338|Any Mendelian disease in which the cause of the disease is a mutation in the TRAF3 gene. TRAF3 haploinsufficiency caused by heterozygous loss of function (null) variants presents as an immune dysregulation syndrome of recurrent bacterial infections, autoimmunity, systemic inflammation, B cell lymphoproliferation, and hypergammaglobulinemia.|MONDO|N|
CN372499|A benign liver neoplasm composed of fat, vascular, and smooth muscle elements.|HPO|N|
CN372500|A lipoma that is located within a the heart.|HPO|N|
CN372503|A benign cystic neoplasm of the kidney.|HPO|N|
CN372549|Calcium deposits in the prostate gland.|HPO|N|
CN372617|A gastrinoma, a neuroendocrine tumors characterized by the secretion of gastrin with resultant excessive gastric acid production, that is localized to the duodenum.|HPO|N|
CN372695|Infection-induced acute encephalitis-12 (IIAE12) is an autosomal recessive disorder characterized by episodic acute encephalopathy associated with infections and febrile illness. Patients present with neurologic symptoms in the first months or years of life, usually after normal early development. Brain imaging in the acute episodes shows restriction on diffusion-weighted imaging (DWI) and T2-weighted abnormalities in the periventricular and subcortical regions, which progresses to cavitation of previously affected areas. The long-term outcome is highly variable, even within families, ranging from death to severe neurologic deficits to normal outcomes (Shashi et al., 2023).
For a discussion of genetic heterogeneity of susceptibility to acute infection-induced encephalopathy, see 610551.|OMIM|N|
CN372696|Congenital smooth muscle hamartoma (CSMH) is a benign skin lesion that presents as an indurated, slightly pigmented or flesh-colored plaque with perifollicular papules or coarse hair. Histopathologically, there is excessive proliferation of ectopic smooth muscle within the dermis. Rarely, CSMH is associated with hemihypertrophy (Atzmony et al., 2020).|OMIM|N|
CN372698|An inherited diseases haracterized by the development of adenomas in the rectum and colon; classified into classic FAP and attenuated FAP.|MONDO|N|
CN372699|Early-onset epilepsy-3 with or without developmental delay (EPEO3) is an autosomal dominant neurologic disorder characterized by the onset of various types of seizures in the first months or years of life. Many patients present with febrile seizures and later develop afebrile seizures. The severity and disease course is highly variable: some affected individuals have global developmental delay or regression with impaired intellectual development, poor or absent speech, and motor delay, whereas others have normal psychomotor development. More severely affected individuals often show additional features, including hypotonia, gait ataxia, nonspecific dysmorphic features, behavioral abnormalities, and variable anomalies on brain imaging (Mattison et al., 2023, Zhao et al., 2023).
For a discussion of genetic heterogeneity of EPEO, see 617290.|OMIM|N|
CN372703|Congenital cranial dysinnervation disorder with absent corneal reflex and developmental delay (CCDDRD) is an autosomal recessive disorder characterized by abnormal development of the proximal cranial sensory ganglia and nerves, mainly CN V (trigeminal nerve) and CN VIII (vestibulocochlear nerve). Affected individuals present at birth or in early infancy with corneal opacities due to absent blinking. Most patients also have sensorineural deafness associated with hypoplastic or malformed cochlea and hypoplasia or agenesis of CN VIII. Developmental delay with poor speech and autistic behavior are also present. Additional features may include expressionless face, feeding or chewing difficulties due to oromotor dysfunction, and dysmorphic facial features (Dupont et al., 2021; Sheth et al., 2023).|OMIM|N|
CN372705|Congenital isolated hyperinsulinism (CHI), a rare endocrine disease is the most frequent cause of severe and persistent hypoglycemia in the neonatal period and early infancy and is characterized by an excessive or uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of profound hypoglycemia requiring rapid and intensive treatment to prevent neurological sequelae. CHI comprises 2 different forms: diazoxide-sensitive diffuse hyperinsulinism and diazoxide-resistant hyperinsulinism.|MONDO|N|
CN372710|Parkinson disease-25 (PARK25) is a progressive neurodegenerative disorder characterized by onset of parkinsonism in late childhood/adolescence and developmental delay/impaired intellectual development. Cognitive impairment is mild to moderate and nonprogressive (Fevga et al., 2023).|OMIM|N|
CN372714|Thrombocytopenia-8 with dysmorphic features and developmental delay (THC8) is an autosomal dominant syndromic disorder characterized by early-childhood onset of chronic thrombocytopenia with anisotropy and immature enlarged platelets, usually without spontaneous bleeding episodes. Affected individuals have dysmorphic facial features and variable developmental delay with speech delay and mildly impaired intellectual development (Latham et al., 2018).
For a discussion of genetic heterogeneity of thrombocytopenia, see 313900.|OMIM|N|
CN372715|Thrombocytopenia-9 (THC9) is an autosomal dominant condition characterized by low platelet counts in the absence of significant bleeding tendency. Some individuals may have mild mucocutaneous bleeding, whereas others do not show bleeding and thrombocytopenia may be an incidental finding. Platelets may show normal function and morphology or be slightly enlarged with platelet anisotropy (Noris et al., 2018; Cornish et al., 2020).
For a discussion of genetic heterogeneity of thrombocytopenia, see 313900.|OMIM|N|
CN372716|Spermatogenic failure-85 (SPGF85) is characterized by male infertility due to globozoospermia and reduced progressive motility (Chen et al., 2021).
For a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).|OMIM|N|
CN372717|Childhood-onset variegate porphyria (VPCO), also called 'homozygous' variegate porphyria, is a rare disorder of heme biosynthesis characterized by severe PPOX deficiency, onset of photosensitization by porphyrins in early childhood, skeletal abnormalities of the hand, and, less consistently, short stature, impaired intellectual development, and seizures. The term 'homozygous' refers to the presence of mutations on both alleles of the PPOX gene, resulting in earlier onset and more severe manifestations than those seen in variegate porphyria (VP), a low-penetrance disorder inherited as an autosomal dominant trait (summary by Roberts et al., 1998). Heterozygous family members of VPCO patients are usually clinically silent, but symptomatic heterozygotes have been reported (Mustajoki et al., 1987; Palmer et al., 2001; Kauppinen et al., 2001).
Nomenclature
'Homozygous' variegate porphyria was so designated before the molecular defect in PPOX was elucidated, on the basis of severe reduction in PPOX activity (between 5 and 20% of control values) compared to that seen in variegate porphyria (approximately 50% reduction), in which autosomal dominant transmission had been observed. It is probable that most cases of 'homozygous' variegate porphyria actually result from compound heterozygosity for PPOX mutations (Frank et al., 1998; Palmer et al., 2001).|OMIM|N|
CN372721|Congenital amegakaryocytic thrombocytopenia-2 (CAMT2) is an autosomal recessive disorder characterized by thrombocytopenia with progression to pancytopenia, aplastic anemia, and bone marrow failure. Serum THPO is decreased or inappropriately normal, and bone marrow is hypocellular with decreased or absent megakaryocytes. Most patients present in infancy or early childhood and have a severe disease course, whereas some have later onset and milder symptoms. Bone marrow transplant is ineffective because the defect is extrinsic to hematopoietic cells. Treatment with THPO receptor (MPL; 159530) agonists results in clinical improvement and restoration of trilineage hematopoiesis (Dasouki et al., 2013; Seo et al., 2017).
For a discussion of genetic heterogeneity of CAMT, see CAMT1 (604498).|OMIM|N|
CN372722|Thrombocytopenia-10 (THC10) is an autosomal recessive disorder characterized by decreased numbers of platelets apparent from birth or early childhood. Affected individuals may have mild bleeding tendency. Platelets are small, but do not show other morphologic defects. Platelets and megakaryocytes do show functional and developmental defects due to impaired activation of signaling pathways (Marconi et al., 2019).
For a discussion of genetic heterogeneity of thrombocytopenia, see 313900.|OMIM|N|
CN372723|Platelet-type bleeding disorder-25 (BDPLT25) is an autosomal dominant condition characterized by increased susceptibility to bleeding episodes due to decreased or dysfunctional platelets. Some individuals have decreased numbers of enlarged platelets or macrothrombocytopenia, whereas others have normal numbers of enlarged platelets. Platelet morphologic and functional defects are variable (Pleines et al., 2017; Stapley et al., 2022; Marin-Quilez et al., 2022).
For a discussion of genetic heterogeneity of BDPLT, see 231200.|OMIM|N|
CN372727|Neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities (NEDFBA) is characterized by developmental delay with variably impaired intellectual development with speech delay, behavioral abnormalities, and nonrecurrent dysmorphic facial features. Additional features may include hypotonia, skeletal anomalies such as scoliosis or pectus defects, and visual problems such as strabismus and myopia (Bogaert et al., 2023).|OMIM|N|
CN372729|Neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies (NEDLBF) is characterized by global developmental delay, speech delay, variably impaired intellectual development, behavioral abnormalities, and dysmorphic facial features. The phenotype and severity of the disorder is heterogeneous, ranging from borderline to severe. Brain imaging is usually normal. More variable additional features include early feeding difficulties, failure to thrive, short stature, mild visual impairment, hypotonia, seizures (particularly febrile), and distal skeletal defects of the hands and feet (Jia et al., 2022).|OMIM|N|
CN372737|Spermatogenic failure-86 (SPGF86) is characterized by male infertility due to acrosomal defects of the spermatozoa, resulting in oocyte activation deficiency and fertilization failure. Some oocytes exhibit early embryonic arrest after successful fertilization with patient sperm using assisted reproductive technology (Xin et al., 2020; Wang et al., 2021).
For a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).|OMIM|N|
CN372738|Spermatogenic failure-87 (SPGF87) is characterized by male infertility, with total fertilization failure due to inability of mutant sperm to penetrate the zona pellucida. Infertility can be rescued by intracytoplasmic sperm injection without assisted oocyte activation (Hua et al., 2023).
For a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).|OMIM|N|
CN372739|Ziegler-Huang syndrome (ZHS) is a bone marrow failure syndrome characterized by severe growth retardation responsive to growth hormone (GH1; 139250) treatment, testicular hypoplasia, and progressive bone marrow failure, with thrombocytopenia and macrocytosis developing in childhood (Huang et al., 2023).
For a general phenotypic description and discussion of genetic heterogeneity of bone marrow failure syndromes, see BMFS1 (614675).|OMIM|N|
CN372784|Concentration of short-chain acylcarnitine in the blood circulation above the upper limit of normal. Acylcarnitines are classified according to the number of carbon atoms in the acyl-chain. Short chain acylcarnitines have between two and five carbon atoms in the acyl-chain (C2-C5),|HPO|N|
CN372785|Concentration of C4 acylcarnitines in the blood circulation above the upper limit of normal. C4 acylcarnitines have a four-carbon acyl chain.|HPO|N|
CN372786|Concentration of medium-chain acylcarnitine in the blood circulation above the upper limit of normal. Acylcarnitines are classified according to the number of carbon atoms in the acyl-chain. Medium-chain acylcarnitines have between six and twelve carbon atoms in the acyl-chain (C6-C12),|HPO|N|
CN372787|Concentration of long-chain acylcarnitine in the blood circulation above the upper limit of normal. Acylcarnitines are classified according to the number of carbon atoms in the acyl-chain. Long-chain acylcarnitines have between thirteen and twenty carbon atoms in the acyl-chain (C13-C20),|HPO|N|
CN372788|Concentration of C5 acylcarnitines in the blood circulation above the upper limit of normal. C5 acylcarnitines have a five-carbon acyl chain.|HPO|N|
CN372789|Concentration of C18 acylcarnitines in the blood circulation above the upper limit of normal. C18 acylcarnitines have a eighteen-carbon acyl chain.|HPO|N|
CN372790|Concentration of C16 acylcarnitines in the blood circulation above the upper limit of normal. C16 acylcarnitines have a sixteen-carbon acyl chain.|HPO|N|
CN372791|Concentration of very long-chain acylcarnitine in the blood circulation above the upper limit of normal. Acylcarnitines are classified according to the number of carbon atoms in the acyl-chain. Very long-chain acylcarnitines have twentyone or more carbon atoms in the acyl-chain (C21 and higher),|HPO|N|
CN372792|Concentration of acetylcarnitine (C2 acylcarnitine) in the blood circulation above the upper limit of normal. Acetylcarnitine has a two-carbon acyl chain.|HPO|N|
CN372793|Concentration of methylmalonylcarnitine in the blood circulation above the upper limit of normal.|HPO|N|
CN372794|Concentration of 3-hydroxyhexadecanoylcarnitine in the blood circulation above the upper limit of normal.|HPO|N|
CN372795|Concentration of C6 acylcarnitines in the blood circulation above the upper limit of normal. C6 acylcarnitines have a six-carbon acyl chain.|HPO|N|
CN372796|Concentration of methylglutarylcarnitine in the blood circulation above the upper limit of normal.|HPO|N|
CN372797|Concentration of 3-hydroxyisovalerylcarnitine in the blood circulation above the upper limit of normal.|HPO|N|
CN372798|Concentration of 3-hydroxyhexanoylcarnitine (C6-OH) in the blood circulation above the upper limit of normal.|HPO|N|
CN372799|Concentration of carnitine in the blood circulation above the upper limit of normal.|HPO|N|
CN372800|Concentration of tiglylcarnitine (C5:1) in the blood circulation above the upper limit of normal.|HPO|N|
CN372801|Concentration of acetylcarnitine (C2 acylcarnitine) in the blood circulation below the lower limit of normal. Acetylcarnitine has a two-carbon acyl chain.|HPO|N|
CN372802|Concentration of octadecenoylcarnitine (C18:1 acylcarnitine) in the blood circulation below the lower limit of normal.|HPO|N|
CN372803|A type of spermatogenesis maturation arrest in which the block of developmental occurs in the spermatogonial stage. Testicular histology shows seminiferous tubules with Sertoli cells and spermatogonial cells but no further differentiated cells like spermatocytes or round spermatids.|HPO|N|
CN372879|Neurodevelopmental disorder with language delay and variable cognitive abnormalities (NEDLC) is a phenotypically heterogeneous neurologic disorder. Affected individuals may show early motor delay, speech and language delay, impaired intellectual development, learning disabilities, and/or behavioral abnormalities, although the severity and manifestations vary widely. Repetitive behavior and sleep difficulties are commonly present. More severe features include seizures, hypotonia, ocular abnormalities, dysmorphic features, and psychiatric comorbidities (Cediel et al., 2022).|OMIM|N|
CN372962|Ichthyosis with erythrokeratoderma (IEKD) is an autosomal dominant disorder of cornification characterized by abnormal desquamation in addition to erythematous hyperkeratotic plaques or patches. Lesions are present at birth or appear soon after (Gong et al., 2023; Takeichi et al., 2023).|OMIM|N|
CN374328|Xerosis and growth failure with immune and pulmonary dysfunction syndrome (XGIP) is characterized by premature birth, intrauterine and postnatal growth retardation, and collodion membrane or collodion-like skin at birth with dry skin thereafter. Patients also exhibit bronchopulmonary disease and thrombocytopenia and neutropenia. Variable features include cardiac anomalies, seizures, encephalopathy, and cholestasis, and cataract has been observed. Affected individuals die within the first year of life (Shamseldin et al., 2023).|OMIM|N|
CN375328|Fliedner-Zweier syndrome (FZS) is a neurodevelopmental disorder characterized by variable manifestations including mild intellectual disability, seizures, behavioral abnormalities, and various skeletal and structural anomalies (Fliedner et al., 2020).|OMIM|N|
CN375466|Developmental and epileptic encephalopathy-111 (DEE111) is an autosomal recessive severe neurologic disorder characterized by early-onset refractory seizures, global developmental delay, hypotonia, impaired gross motor development, impaired intellectual development, and absent speech. Most patients have macrocephaly. Brain imaging shows frontal, parietal, and perisylvian polymicrogyria, dysmorphic basal ganglia and corpus callosum, and hypoplastic pons. Additional features may include feeding difficulties, poor vision with ocular anomalies, congenital cardiac abnormalities, and recurrent infections associated with neutropenia. Death in early childhood may occur (Ververi et al., 2023).
For a discussion of genetic heterogeneity of DEE, see 308350.|OMIM|N|
CN375523|Arrhythmogenic cardiomyopathy with variable ectodermal abnormalities (ARCME) is characterized by severe dilated cardiomyopathy resulting in death or cardiac transplantation in childhood. Ventricular tachycardia, sustained or nonsustained, has been reported. In addition, some patients exhibit ectodermal manifestations including woolly or wiry hair, dental anomalies, dry skin, and/or dystrophic nails. Cleft lip and palate and corneal abnormalities have also been observed (Robinson et al., 2020; Henry et al., 2022).|OMIM|N|
CN375536|Immune dysregulation, autoimmunity, and autoinflammation (IDAA) is an immunologic disorder characterized by anemia and thrombocytopenia associated with circulating autoantibodies, positive Coombs test, and increased levels of proinflammatory cytokines due to constitutive activation of immune-related signaling pathways (Tao et al., 2023).|OMIM|N|
CN375537|Neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction (NEDRSO) is an autosomal recessive disorder characterized by onset of progressive motor abnormalities in early childhood after normal early development. Affected individuals show regression of motor function with axial hypotonia, appendicular spasticity, and ataxic gait or loss of ambulation; some never achieve walking. Additional features include poor coordination, dystonia, oromotor dysfunction, poor speech with dysarthria, ocular defects (in about half), and variably impaired intellectual development. Short stature and small head circumference or microcephaly are observed. Brain imaging often shows progressive cerebellar atrophy, sometimes with other findings such as basal ganglia abnormalities (Frost et al., 2023).|OMIM|N|
CN375538|Autosomal dominant distal hereditary motor neuronopathy-11 (HMND11) is a peripheral axonal motor neuropathy characterized by juvenile or young-adult onset of distal limb muscle weakness and atrophy mainly affecting the lower limbs, resulting in gait instability and walking difficulties. Foot deformities may also be present. The disorder is usually slowly progressive, and patients remain ambulatory until late adulthood. Some affected individuals may have distal upper limb and hand involvement or mild distal sensory abnormalities, but motor symptoms dominate the clinical picture. Electrophysiologic studies are consistent with a length-dependent axonal motor or sensorimotor neuropathy. Seizures are not present and brain imaging is normal (Beijer et al., 2019). One reported affected individual had a marfanoid habitus and mild speech delay with learning disabilities, suggesting possible expansion of the phenotypic spectrum (Ylikallio et al., 2020).
For a discussion of genetic heterogeneity of autosomal dominant distal HMN, see HMND1 (182960).|OMIM|N|
CN375555|Autosomal recessive severe congenital neutropenia-10 (SCN10) is characterized by infantile onset of neutropenia, which may be associated with bacterial infections, including skin abscesses. Anemia and thrombocytopenia may be transiently present. The disorder results from impaired development of granulocyte precursors and neutrophils (Schmaltz-Panneau et al., 2021).
For discussion of genetic heterogeneity of severe congenital neutropenia, see SCN1 (202700).|OMIM|N|
CN375558|Hyper-IgE syndrome-6 with recurrent infections (HIES6) is an autosomal dominant immunologic disorder characterized by early-childhood onset of severe refractory atopic dermatitis, IgE-mediated food and drug allergies, asthma, and eosinophilic esophagitis. Laboratory studies show increased serum IgE levels and eosinophilia. Affected individuals are susceptible to life-threatening anaphylaxis. Additional features may include allergic rhinitis, recurrent secondary infections (bacterial, viral, fungal), and short stature. Rare patients show intracerebral vascular abnormalities, including the Circle of Willis, increased risk of ruptured aneurysm, and B-cell lymphoma. The disorder results from immune dysregulation with inappropriate activation of inflammatory signaling pathways associated with a Th2 phenotype. Treatment with an IL4 (147780)/IL13 (147683) inhibitor (dupilumab) or JAK inhibitor results in clinical improvement. Sharma et al. (2023) classified this disease as a 'primary atopic disorder' (PAD).
For a discussion of genetic heterogeneity of hyper-IgE syndrome, see HIES1 (147060).|OMIM|N|
CN375559|Autosomal recessive Alport syndrome-3B (ATS3B) is a progressive hematuric glomerulonephritis characterized by glomerular basement membrane abnormalities. Sensorineural hearing loss and ocular manifestations may be present (summary by Boye et al., 1998).
For a general phenotypic description of Alport syndrome, see the X-linked dominant form (ATS1; 301050).|OMIM|N|
CN375562|A spectrum of disorders that includes Farber disease and spinal muscular atrophy with progressive myoclonic epilepsy. Both disorders are caused by mutations in the ASAH1 gene that encodes the lysosomal hydrolase that breaks down the bioactive lipid, ceramide.|MONDO|N|
CN375563|A newly discovered disorder caused by a change (variant or mutation) in the TCF7L2 gene. This mutation may be responsible for developmental delays in childhood, intellectual disability, autism, myopia, ADHD, abnormal physical features and other problems. There is a wide spectrum of severity for individuals affected with TRND. Many of the symptoms of TRND overlap with other neurodevelopmental disorders. TRND must be diagnosed with a genetic test and cannot be diagnosed by symptoms alone.|MONDO|N|
CN375600|Developmental delay, dysmorphic facies, and brain anomalies (DEVDFB) is characterized by global developmental delay with impaired intellectual development, speech delay, nonspecific dysmorphic facial features, hypotonia, and impaired overall growth with small head circumference. Most affected individuals have early-onset seizures that are variable in severity. Brain imaging typically shows hypoplasia of the corpus callosum and/or delayed myelination (Hiraide et al., 2021; Kuroda et al., 2023).|OMIM|N|
CN375606|Spastic paraplegia-18A (SPG18A) is an autosomal dominant disorder characterized by a pure form of hereditary spastic paraplegia phenotype (summary by Rydning et al., 2018).|OMIM|N|
CN375607|Developmental and epileptic encephalopathy-112 (DEE112) is an autosomal dominant disorder characterized by a wide range of seizure types, including focal and generalized seizures. Cognitive outcomes range from normal intellect to profound impairment (summary by Happ et al., 2023).
For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350.|OMIM|N|
CN375610|Autosomal recessive distal hereditary motor neuronopathy-9 (HMNR9) is a slowly progressive peripheral neuropathy characterized by juvenile onset of distal muscle weakness and atrophy, resulting in gait difficulties. Most affected individuals also have upper limb involvement with weakness and atrophy of the hand muscles. Foot deformities are often present. Some patients may have mild sensory abnormalities or pyramidal signs. Electrophysiologic studies are consistent with a length-dependent axonal motor neuropathy (summary by Jacquier et al., 2023).
For a discussion of genetic heterogeneity of autosomal recessive HMN, see HMNR1 (604320).|OMIM|N|
CN375611|Autosomal dominant spastic paraplegia-91 with or without cerebellar ataxia (SPG91) is a highly variable neurologic disorder characterized by early-onset gait abnormalities due to spastic paraplegia of the lower limbs, sometimes with cerebellar ataxia. The age at onset is highly variable (congenital to young adult), although most patients have symptom onset in the first decade. Some patients present with a spastic paraplegia-predominant phenotype with significant pyramidal signs, whereas others present with an ataxic-predominant phenotype. In addition, although most patients have a more 'pure' phenotype restricted to gait abnormalities without additional features, others have a more 'complicated' phenotype with additional features such as sensory abnormalities, peripheral neuropathy, optic neuropathy, developmental delay, variably impaired intellectual development, and seizures. Many have normal brain imaging, but cerebellar atrophy may be observed in those with prominent cerebellar ataxia (Van de Vondel et al., 2022).
For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant spastic paraplegia, see SPG3A (182600).|OMIM|N|
CN375612|Developmental delay with or without epilepsy (DEVEP) is a clinically heterogeneous neurodevelopmental disorder characterized by motor delay, speech delay, and variably impaired intellectual development apparent from infancy or early childhood. Hypotonia and behavioral abnormalities are common. About half of affected individuals develop various types of seizures that are not as severe as observed in the allelic disorder DEE5. In general, the phenotype is similar to but milder than DEE5. Some individuals with DEVEP have ataxia or nystagmus associated with cerebellar atrophy on brain imaging, indicating phenotypic overlap with the allelic disorder SPG91 (Morsy et al., 2023).
In a study of 31 individuals with SPTAN1 mutations, Morsy et al. (2023) delineated 3 distinct phenotypic subgroups: DEE5; a milder phenotype of developmental delay with or without seizures (DEVEP); and pure or complicated spastic paraplegia/ataxia (SPG91). Syrbe et al. (2017) similarly emphasized the remarkably broad phenotypic spectrum of neurologic disorders associated with heterozygous SPTAN1 mutations in their cohort study.|OMIM|N|
CN375615|Distal arthrogryposis type 12 (DA12) is characterized by congenital contractures, primarily affecting the small joints of the fingers and toes. Additional features include contractures of the knees and Achilles tendons, spinal stiffness, scoliosis, and orthodontic abnormalities. Radiographic investigations excluded bony abnormalities of the affected joints (Boschann et al., 2022).
For a general phenotypic description and discussion of genetic heterogeneity of distal arthrogryposis, see DA1A (108120).|OMIM|N|
CN375616|Congenital disorder of glycosylation type IIbb (CDG2BB) is an autosomal recessive disorder characterized by global developmental delay, severely impaired intellectual development, microcephaly, epilepsy, facial dysmorphism, and variable neurologic findings (Duan et al., 2023).|OMIM|N|
CN375625|Spermatogenic failure-88 (SPGF88) is characterized by male infertility due to prepachytene meiotic arrest (Wu et al., 2022; Yang et al., 2022).
For a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).|OMIM|N|
CN375626|Premature ovarian failure-22 (POF22) is characterized by female infertility, with small to atrophic ovaries and no visible ovarian follicles (Wu et al., 2022; Zhang et al., 2022).
For a general phenotypic description and discussion of genetic heterogeneity of premature ovarian failure, see POF1 (311360).|OMIM|N|
CN375628|Autosomal recessive distal hereditary motor neuronopathy-10 (HMNR10) is a slowly progressive disorder characterized by distal muscle weakness and atrophy predominantly affecting the lower limbs and resulting in gait abnormalities; upper limb involvement often occurs. Most individuals have juvenile or adult onset, but some may show earlier onset in infancy or childhood. Although most affected individuals have a pure distal motor neuropathy, some may also have signs of upper motor neuron disease, including pyramidal signs and hyperreflexia, and some may show mild sensory involvement or mild respiratory insufficiency. Foot deformities and calf atrophy are commonly observed. Intellectual development, cognitive function, and brain imaging are typically normal. Electrophysiologic studies are consistent with an axonal motor (sometimes sensorimotor) neuropathy. In general, patients with earlier onset have a more severe disorder with faster progression (summary by El-Bazzal et al., 2019; Demaegd et al., 2022).
El-Bazzal et al. (2019) and Lazo and Morejon-Garcia (2023) noted that VRK1-related motor neuron disease is clinically heterogeneous and has been described by various clinical terms, including spinal muscular atrophy, distal spinal muscular atrophy, amyotrophic lateral sclerosis (ALS), juvenile-onset ALS, hereditary motor and sensory neuropathy, Charcot-Marie-Tooth disease, and pure distal motor neuropathy. VRK1 mutations result in functional insufficiency.
For a discussion of genetic heterogeneity of autosomal recessive HMN, see HMNR1 (604320).|OMIM|N|
CN375629|Optic atrophy-14 (OPA14) is characterized by adult-onset progressive reduction in visual acuity, with visual field defects progressing from the periphery to the center. Optic discs are pale and excavated, and there is loss of the retinal nerve fiber layer on optical coherence tomography (Charif et al., 2021).
For a general phenotypic description and discussion of genetic heterogeneity of optic atrophy, see OPA1 (165500).|OMIM|N|
CN375630|Autosomal recessive deafness-121 (DFNB121) is characterized by congenital or prelingual moderate sensorineural hearing loss (Ramzan et al., 2023).|OMIM|N|
CN375631|A severe combined immunodeficiency that is the result of a mutation on Chromosome 6 RAG1 gene involving genetic rearrangement of both the T- and B-lymphocyte receptor genes.|MONDO|N|
CN375632|Craniometadiaphyseal osteosclerosis with hip dysplasia (CMDOH) is characterized by macrocephaly, cranial hyperostosis, and vertebral endplate sclerosis. Other frequent findings include hip dysplasia, heart malformations, variable developmental delay, and hematologic anomalies including anemia and pancytopenia. Bone biopsy shows evidence of increased osteoblast and reduced osteoclast function at the growth plate resorption zone, resulting in coarse trabeculae (Terhal et al., 2023).
For syndromes with overlapping features, see osteopetrosis, autosomal recessive (OPTB1; 259700) and dominant (OPTA1; 607634), and osteopathia with cranial sclerosis (OSCS; 300373).|OMIM|N|
CN375660|Concentration of neuron-specific enolase above the upper limit of normal in the blood circulation.|HPO|N|
CN375661|Concentration or activity of an alpha-mannosidase as measured in leukocytes is below the limits of normal.|HPO|N|
CN375662|Concentration or activity of alpha mannosidase above the upper limit of normal in the blood circulation.|HPO|N|
CN375663|Concentration or activity of cathepsin D as measured in leukocytes is below the limits of normal. The reduction in cathepsin D activity can also be measured in fibroblasts.|HPO|N|
CN375664|Concentration or activity of N-sulfoglucosamine sulfohydrolase as measured in leukocytes is below the limits of normal.|HPO|N|
CN375666|Concentration or activity of an enzyme is above or below the limits of normal in cultured fibroblasts. Fibroblasts are easy to grow in culture and are the main cell type involved in producing extracellular matrix. They are used as a convenient model system for measuring enzyme activity for enzymes that are not expressed in blood cells. Usually, the test is done in fibroblasts for convenience rather than for the investigation of a pathophysiology specific to fibroblasts.|HPO|N|
CN375667|Concentration or activity of N-sulfoglucosamine sulfohydrolase as measured in cultured fibroblasts is below the limits of normal.|HPO|N|
CN375668|Concentration or activity of N-acetylgalactosamine-6-sulfate sulfatase as measured in cultured fibroblasts is below the limits of normal.|HPO|N|
CN375669|Concentration or activity of N-acetylglucosamine-6-sulfatase (EC 3.1.6.14) as measured in cultured fibroblasts is below the limits of normal. N-acetylglucosamine-6-sulfatase hydrolyzes heparan sulfate and keratan sulfate.|HPO|N|
CN375670|Activity or concentration of in the level of porphobilinogen deaminase (EC 4.3.1.8) in erythrocytes below the lower limit of normal.|HPO|N|
CN375671|Concentration or activity of holocarboxylase synthetase (EC 6.3.4.10) as measured in cultured fibroblasts is below the limits of normal.|HPO|N|
CN375672|Concentration or activity of alpha mannosidase outside of the limits of normal in the blood circulation.|HPO|N|
CN375673|Concentration or activity of alpha-N-acetylgalactosaminidase (EC 3.2.1.49) as measured in cultured fibroblasts is below the limits of normal.|HPO|N|
CN375674|Activity or concentration of arginase (EC 3.5.3.1) in red blood cells below the lower limit of normal. Arginase catalyzes the last step of the urea cycle.|HPO|N|
CN375675|Concentration or activity of mitochondrial acetyl-CoA acetyltransferase (EC 2.3.1.9) as measured in cultured fibroblasts is below the limits of normal.|HPO|N|
CN375676|Concentration or activity of beta-mannosidase (EC 3.2.1.25) as measured in cultured fibroblasts is below the limits of normal.|HPO|N|
CN375677|Acitivity of 3-methylcrotonyl-CoA carboxylase (EC 6.4.1.4) below the lower limit of normal in cultured fibroblasts.|HPO|N|
CN375678|Acitivity of branched-chain alpha-keto acid dehydrogenase complex (EC 1.2.4.4) below the lower limit of normal in cultured fibroblasts.|HPO|N|
CN375679|Activity or concentration of in the level of galactose-1-phosphate uridylyltransferase (GALT; EC 2.7.7.12) in erythrocytes below the lower limit of normal.|HPO|N|
CN375680|Activity of adenosine deaminase in red blood cells outside the limits of normal.|HPO|N|
CN375681|Acitivity of isovaleryl-CoA dehydrogenase (EC 1.3.99.10) below the lower limit of normal in cultured fibroblasts.|HPO|N|
CN375682|Acitivity of glycerol kinase (EC 2.7.1.30) below the lower limit of normal in cultured fibroblasts.|HPO|N|
CN375683|Concentration of vitamin A above the upper limit of normal in the blood circulation.|HPO|N|
CN375684|Concentration of hyaluronic acid in the blood circulation above the upper limit of normal.|HPO|N|
CN375685|Perception of smell without olfactory stimulus.|HPO|N|
CN375686|Perception of taste without gustatory stimulus.|HPO|N|
CN375687|Abnormal perception of reality is characterized by an abnormal or inaccurate experience of external stimuli.|HPO|N|
CN375689|A perceptual experience in which an individual's perception of sensory stimuli is altered or disrupted in some way, resulting in abnormal or distorted sensory perceptions despite the presence of actual external stimuli.|HPO|N|
CN375691|Instances in which individuals fail to perceive or notice salient or significant stimuli in their visual field due to a lack of attention.|HPO|N|
CN375692|Perceptual distortions or misinterpretations of sensory information arise as a result of the individual's emotional or affective state.|HPO|N|
CN375693|Apophenia is a psychological phenomenon in which individuals perceive familiar patterns or meaningful images in random or ambiguous stimuli, such as clouds, shadows, or inanimate objects.|HPO|N|
CN375694|A phenomenon in which an individual perceives themselves from an external perspective, as if they are observing their own body or self from a location outside of their physical body.|HPO|N|
CN375695|A mental phenomenon is when an individual can vividly visualize or recall visual information from memory with exceptional detail and accuracy. These images are experienced subjectively by the individual, meaning they are not physically present or visible to others.|HPO|N|
CN375696|A increase in the tendency of a person to seek or maintain social connections or interactions with others compared to previous norms for an individual.|HPO|N|
CN375697|A reduction in the tendency of a person to display emotional responsiveness or empathy towards others during interpersonal interactions as compared to that person's previous norm.|HPO|N|
CN375699|A type of hallucination that involves the perception of internal bodily sensations or processes that do not actually exist.|HPO|N|
CN375700|Temporary alteration of the awareness of reality or self-perception.|HPO|N|
CN375703|Decreased mirroring or reflection of facial expressions in another person during social interactions, compared to the person's normal behavior.|HPO|N|
CN375704|A reduction in the tendency of a person to accept casual physical contact with others as compared to that person's previous norm.|HPO|N|
CN375705|The interruption of speech causes an abnormal period of silence, followed by a sudden switch to an unrelated topic. Some may describe the experience as an abrupt emptying of the mind or the belief that an external force removed their thoughts from their head.|HPO|N|
CN375706|Threat-based cognitive biases result in a skewed perception, experience, or processing of internal or external stimuli.|HPO|N|
CN375710|An abnormal or disorganized way of communicating that appears to be the result of disorganized thought.|HPO|N|
CN375715|A repeating behavior that is either immediately unproductive or has negative long-term consequences. This includes harmful coping mechanisms such as addictive behavior and failure to control impulses and compulsions.|HPO|N|
CN375716|A cognitive distortion is a maladaptive, exaggerated, or irrational thought pattern.|HPO|N|
CN375717|An alternation in the habits and emotional tendencies of an individual with a change in behavior that is typically noticed by family members or peers.|HPO|N|
CN375719|An excessive increase in goal-directed behavior, that is, motivation, is the determinant of behavior and adaptation that allows individuals to get started, be energized to perform a sustained and directed action. It also includes an excessive increase in non goal-directed movement or activity.|HPO|N|
CN375720|There has been an increase in the amount of spontaneous speech, which is generally continuous, rapid, loud, and difficult to interrupt. It may sometimes be incoherent and continue even when no one is listening.|HPO|N|
CN375721|The sensation of having heavy arms and legs, or feeling a heaviness in the limbs.|HPO|N|
CN375722|Abnormal thought pattern refers to thoughts or patterns of thinking that are intrusive, obsessive, or challenging to control.|HPO|N|
CN375723|Exaggerated feelings of self-importance, superiority, uniqueness, or invulnerability.|HPO|N|
CN375728|Conditions of abnormal and difficult respiration during sleep, including chronic snoring and sleep apnea.|HPO|N|
CN375729|Bruxism is a condition in which you grind, gnash, or clench your teeth while asleep.|HPO|N|
CN375731|Eating while asleep can be problematic, as it may involve potentially harmful behaviors like overeating or consuming raw meat.|HPO|N|
CN375732|Sudden onset of extreme drowsiness or falling asleep during the day for a short period of time.|HPO|N|
CN375734|A sleep disorder in which one physically acts out one's dreams without awareness of the physical actions.|HPO|N|
CN375735|Perception of feeling unrefreshed after sleep.|HPO|N|
CN375736|A group of parasomnias that occur during the transition from wakefulness to sleep or from one sleep stage to another. Rhythmic Movement Disorder, Sleep Starts, Sleep Talking, and Nocturnal Leg Cramps - these four disorders belong to Sleep-Wake Transition Disorders in the International Classification of Sleep Disorders.|HPO|N|
CN375737|Unintentional sexual behavior during sleep, such as masturbation, initiation of sex, or making sexual noises, is known as sexsomnia. Sexsomnia predominantly occurs during NREM sleep.|HPO|N|
CN375738|Repetitive limb movements during sleep can affect the quality of your sleep.|HPO|N|
CN375739|Abnormal transition of consciousness from wakefulness to sleep.|HPO|N|
CN375740|Abnormal transition of consciousness from sleeping to wakefulness.|HPO|N|
CN375741|Interruptions during the various stages of sleep.|HPO|N|
CN375742|Parasomnia occurs during REM sleep.|HPO|N|
CN375743|Periodic Limb Movement Disorder, also known as Sleep-Related Myoclonus Syndrome or Nocturnal Myoclonus Syndrome, refers to the periodic and stereotypic movements of the legs or upper limbs during sleep.|HPO|N|
CN375744|Disruptions in the first stage of NREM sleep can occur.|HPO|N|
CN375745|Paradoxical insomnia is a condition in which individuals with a normal or near-normal sleep macrostructure tend to severely underestimate the quantity and quality of their sleep.|HPO|N|
CN375746|Disruptions in the second stage of NREM sleep.|HPO|N|
CN375747|Disruptions in the third stage of NREM sleep.|HPO|N|
CN375748|A reduction in the tendency of a person to seek or maintain social connections or interactions with others compared to previous norms for an individual.|HPO|N|
CN375749|An increase in the tendency of a person to share information or emotions compared to that person's previous norms.|HPO|N|
CN375750|Increased frequency or duration in social outings and interactions as part of relationship-seeking or maintenance compared to the previous norms of an individual.|HPO|N|
CN375751|A reduction in the tendency of a person to share information or emotions compared to that person's previous norms.|HPO|N|
CN375752|A reduction in the tendency of a person to seek new interpersonal relationships or maintain existing relationships.|HPO|N|
CN375753|.An abnormal increase of libido (sexual desire), typically accompanied by a higher frequency of sexual activity compared to from a person's previous norm.|HPO|N|
CN375754|An increase in the tendency of a person to express emotions compared to that person's previous norm.|HPO|N|
CN375755|An increase in the tendency of a person to display emotional responsiveness or emotional empathy towards others during interpersonal interactions as compared to that person's previous norm.|HPO|N|
CN375756|An increase in the tendency of a person to be comfortable with physical contact with others compared to that person's previous norm.|HPO|N|
CN375757|A reduction of libido (sexual desire), typically accompanied by a reduction in the frequency of sexual activity , and/or activity compared to the affected individual's previous state.|HPO|N|
CN375758|A reduction in the tendency of a person to express emotions that is typically noticed as a change in behavior by family members or peers.|HPO|N|
CN375759|Impaired ability to stop or control alcohol use despite adverse social, occupational, or health consequences.|HPO|N|
CN375760|Suicide attempts or preparations|HPO|N|
CN375761|Misuse and/or abuse of sedative drugs.|HPO|N|
CN375762|Uncontrolled use or problematic behaviors of dependency without the use of drugs or substances can be detrimental.|HPO|N|
CN375763|An uncontrollable urge to shop and spend money can lead to distress or impairment.|HPO|N|
CN375764|The act of taking chances or engaging in behaviors without restraint, typically involving the wagering of something valuable, in pursuit of acquiring something of higher value.|HPO|N|
CN375765|Inability to control or manage sexual urges, fantasies, or behaviors that impair one's ability to function.|HPO|N|
CN375766|The inability to regulate persistent gaming behavior is characterized by a heightened prioritization of gaming activities over regular daily tasks and responsibilities.|HPO|N|
CN375767|Irresistible impulses to take easily affordable items.|HPO|N|
CN375768|The inability to control urges of deliberately setting fires for pleasure and gratification, without any criminal intent.|HPO|N|
CN375769|Deliberate harm to one's body, in the form of cutting that results in tissue damage, without a conscious intent to die.|HPO|N|
CN375770|A persistent and compulsive need to use cannabis, despite negative consequences.|HPO|N|
CN375771|The habitual action of inflicting pain upon oneself by biting and/or devouring portions of one's body.|HPO|N|
CN375772|Sleep paralysis that occurs when falling asleep.|HPO|N|
CN375773|Sleep paralysis that occurs when waking up from sleep.|HPO|N|
CN375774|Entering REM sleep immediately upon falling asleep.|HPO|N|
CN375782|Beliefs that deviate from what is considered rational or within the range of normal human judgment and belief formation.|HPO|N|
CN375784|The inability to recognize certain smells or types of odors that you previously recognized.|HPO|N|
CN375785|A delusional interpretation of a normal memory.|HPO|N|
CN375786|People cannot identify tastes, even though they can experience them.|HPO|N|
CN375789|False beliefs relating to origin (aristocratic lineage, royal birth, being raised as a foster child), possessions (owning vast estates, castles, etc., which are withheld through intrigue), abilities (being great inventors, discoverers, artists, possessors of special wisdom, gifted with inspiration), and status (adviser to prominent diplomats, the true director of political destinies).|HPO|N|
CN375790|Delusional beliefs are transmitted from one individual to another.|HPO|N|
CN375791|A false belief that another person, group of people, or external force controls one's general thoughts, feelings, impulses, or behaviors.|HPO|N|
CN375792|A delusion (a fixed false belief held despite evidence to the contrary) of being loved by another person, even though there is no evidence of this, and the person in question denies it.|HPO|N|
CN375794|A false belief that you or your body parts are dead, dying, or do not exist.|HPO|N|
CN375795|Subjective phenomena or perceptions that deviate from what is considered correct or are outside the range of normal human experiences.|HPO|N|
CN375797|Bodily preoccupation, disease phobia, and a false fixed conviction of the presence of disease with no response to reassurance.|HPO|N|
CN375799|Experience everything around them as sinister, portentous, uncanny, and peculiar in an indefinable way. They know that they are personally involved but cannot tell how. They have a feeling of anticipation, sometimes even excitement, that soon all the separate parts of their experience will fit together to reveal something immensely significant.|HPO|N|
CN375800|A group of complex, monothematic delusional phenomena in which subjects hold a belief that the identity of a familiar person, object, location, or self has been altered or replaced.|HPO|N|
CN375802|Any abnormal pattern of psychotic experiences, where an individual has significant disturbances in their thoughts, perceptions, emotions, and behavior, resulting in a loss of touch with reality.|HPO|N|
CN375805|Autosomal recessive Leber-like hereditary optic neuropathy-2 (LHONAR2) is characterized by subacute bilateral or asymmetrical visual loss, optic nerve pseudoedema and peripapillary telangiectasia in the early phase of the disease, and eventual partial recovery in some patients (Gerber et al., 2017).
For a discussion of genetic heterogeneity of autosomal recessive Leber-like hereditary optic neuropathy, see LHONAR1 (619382).|OMIM|N|
CN375806|Primary ciliary dyskinesia-52 (CILD52) is an autosomal recessive disorder characterized by laterality defects and mild respiratory symptoms due to subtle ciliary beating defects (summary by Leslie et al., 2022).|OMIM|N|
CN375808|Otosclerosis-11 (OTSC11) is characterized by onset of progressive hearing loss in the second to third decade of life. Deafness ranges from moderate to severe, and may be conductive, sensorineural, or mixed. Hearing may improve with stapedectomy, but profound sensorineural deafness may require a cochlear implant (Abdelfatah et al., 2022).
For a general phenotypic description and discussion of genetic heterogeneity of otosclerosis, see OTSC1 (166800).|OMIM|N|
CN375812|Garg-Mishra progeroid syndrome (GMPGS) is characterized by severe dwarfism, mandibular hypoplasia, microphthalmia, hyperopia, and partial lipodystrophy (summary by Garg et al., 2022).|OMIM|N|
CN375813|Lymphatic malformation-14 (LMPHM14) is an autosomal dominant disorder characterized by primary lymphedema (Greene et al., 2023).
For a general phenotypic description and discussion of genetic heterogeneity of lymphatic malformation, see LMPHM1 (153100).|OMIM|N|
CN375816|Immunodeficiency-113 with autoimmunity and autoinflammation (IMD113) is an autosomal recessive complex immunologic disorder with onset of symptoms in infancy. Affected individuals have recurrent infections and usually show features of autoimmunity and autoinflammation, such as hemolytic anemia, thrombocytopenia, hepatosplenomegaly, leukocytosis, neutrophilia, and elevated acute phase reactants. More variable systemic features may include celiac disease or enteropathy, ileus, nephropathy, eczema, and dermatomyositis. Additional features include facial dysmorphism, scoliosis, and poor wound healing. One patient with neurodevelopmental abnormalities has been reported. The disorder results from dysregulation of the actin cytoskeleton that affects certain cell lineages (Nunes-Santos et al., 2023).|OMIM|N|
CN375817|Hereditary spastic paraplegia-72B (SPG72B) is a pure form of spastic paraplegia with onset of difficulty walking and stiff legs associated with hyperreflexia and extensor plantar responses in early childhood. The disorder is slowly progressive, and some patients develop the need for assistance in walking. Cognition, speech, and ocular function are normal (summary by Esteves et al., 2014).
For a discussion of genetic heterogeneity of autosomal recessive spastic paraplegia, see SPG5A (270800).|OMIM|N|
CN375818|Long-Olsen-Distelmaier syndrome (LNGODS) is a severe, early-onset disease with multiple system involvement and lethal dilated cardiomyopathy (DCM) as a core clinical feature (summary by Reijnders et al., 2023).|OMIM|N|
CN375822|Folate-responsive immunodeficiency-114 (IMD114) is an autosomal recessive immunologic disorder characterized by the onset of oral ulcers and recurrent skin and respiratory infections in early infancy. Affected individuals have lip fissures, skin sores and abscesses, genital dermatitis, chronic diarrhea, and poor overall growth. Laboratory studies show megaloblastic anemia, thrombocytopenia, and lymphopenia with decreased Ig levels. Some individuals have global developmental delay, often with brain imaging abnormalities. Treatment with folic acid supplementation results in significant clinical improvement of the hematologic and immunologic abnormalities, although neurologic abnormalities, if already present, do not respond to treatment. Early intervention and treatment with folic acid supplementation may prevent or delay neurologic deficits in affected infants (Gok et al., 2023; Shiraishi et al., 2023).|OMIM|N|
CN375823|Oocyte/zygote/embryo maturation arrest-21 (OZEMA21) is characterized by female infertility caused by zygote arrest due to pronuclei fusion failure (Zhang et al., 2021).
For a discussion of genetic heterogeneity of OZEMA, see 615774.|OMIM|N|
CN375824|Optic atrophy-16 (OPA16) is an autosomal recessive disorder characterized by a Leber hereditary optic neuropathy (LHON)-like isolated optic neuropathy and mild sensorineural hearing impairment (Fiorini et al., 2023).
For a discussion of genetic heterogeneity of optic atrophy, see OPA1 (165500).|OMIM|N|
CN375833|Dilated cardiomyopathy-2J (CMD2J) is characterized by onset of heart failure within the first year of life, with severely reduced left ventricular ejection fractions (Ruijmbeek et al., 2023).
For a general phenotypic description and discussion of genetic heterogeneity of dilated cardiomyopathy, see 115200.|OMIM|N|
CN375834|Immunodeficiency-115 with autoinflammation (IMD115) is an autosomal recessive disorder characterized by the onset of symptoms of immune dysregulation in early infancy. Affected individuals have immunodeficiency with recurrent bacterial, viral, and fungal infections, as well as autoinflammatory features, including arthritis and dermatitis. Some patients may have more systemic involvement, such as myopathy, gastrointestinal abnormalities, and anemia. Laboratory studies show variable B-cell and T-cell defects, sometimes with defective antibody responses and hypogammaglobulinemia (Boisson et al., 2015; Oda et al., 2019).|OMIM|N|
CN375836|Osteogenesis imperfecta type XXIII (OI23) is a mild recessive form of OI, characterized by osteopenia with or without recurrent fractures, platyspondyly, short and bowed long bones, and widened metaphyses. Metaphyseal and vertebral changes regress after early childhood; osteopenia persists, but responds well to bisphosphonate (Tuysuz et al., 2023).|OMIM|N|
CN375856|Primary ciliary dyskinesia-53 (CILD53) is an autosomal recessive disorder characterized by randomization of the left-right body asymmetry and respiratory symptoms (Hjeij et al., 2023).|OMIM|N|
CN375857|Combined oxidative phosphorylation deficiency-59 (COXPD59) may present as a lethal infantile form of Leigh syndrome (see 256000) or as a milder disorder with hypertrophic cardiomyopathy, lactic acidosis, attention deficit-hyperactivity disorder (ADHD) and survival into adulthood (summary by Amarasekera et al., 2023).
For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060).|OMIM|N|
CN375862|Diabetes, deafness, developmental delay, and short stature syndrome (DDDS) is characterized by childhood-onset autoantibody-negative diabetes mellitus and bilateral sensorineural deafness, as well as short stature, microcephaly, and developmental delay (Montaser et al., 2021).|OMIM|N|
CN375863|Tan-Almurshedi syndrome (TANALS) is an autosomal recessive neurodevelopmental disorder characterized by intrauterine growth retardation, poor overall growth with short stature and microcephaly, hypotonia, global developmental delay with impaired intellectual development, poor or absent speech, spasticity, and dysmorphic facial features (Westrip et al., 2023).|OMIM|N|
CN375864|Autosomal recessive progressive external ophthalmoplegia-6 (PEOB6) is characterized by ptosis and ophthalmoplegia as well as other clinical manifestations and multiple mtDNA deletions in muscle (Shintaku et al., 2022).
For a discussion of genetic heterogeneity of autosomal recessive PEO, see PEOB1 (258450).|OMIM|N|
CN375865|Childhood-onset neurodegeneration with cerebellar ataxia and cognitive decline (CONDCAC) is characterized by the onset of progressive gait and truncal ataxia in early childhood. Affected individuals have muscle weakness and atrophy and sensorimotor axonal neuropathy; some may lose ambulation. Additional features include cognitive decline or learning disabilities. Brain imaging shows cerebellar atrophy (Delle Vedove et al., 2022).|OMIM|N|
CN375869|Lui-Jee Baron syndrome (LJBS) is a generalized overgrowth disorder of prenatal onset characterized by extreme tall stature, enlarged liver and spleen, macrocephaly, dysmorphic features, and normal development. Hemizygous males are more severely affected than heterozygous females (Lui et al., 2023).|OMIM|N|
CN375871|Cornelia de Lange syndrome (CDLS) is a genetically heterogeneous developmental disorder characterized by malformations affecting multiple systems. Affected individuals have dysmorphic facial features, cleft palate, distal limb defects, growth retardation, and developmental delay. About 60% of patients have mutations in the NIPBL gene (608667) (summary by Musio et al., 2006 and Hoppman-Chaney et al., 2012).
For a general phenotypic description and a discussion of genetic heterogeneity of Cornelia de Lange syndrome, see CDLS1 (122470).|OMIM|N|
CN375872|Autosomal recessive intellectual developmental disorder-80 with variant lissencephaly (MRT80) is characterized by global developmental delay with mildly to moderately impaired intellectual development and behavioral abnormalities. Speech delay and motor abnormalities, such as hypotonia, may also be present. Brain imaging shows lissencephaly with pachygyria and mild cortical thickening in the frontotemporal lobes (Uctepe et al., 2024).|OMIM|N|
CN375875|Thrombocytopenia-11 with multiple congenital anomalies and dysmorphic facies (THC11) is a syndromic disorder characterized by dysmorphic facial features, multiple congenital anomalies that may involve the heart, brain, genitourinary, endocrine, and/or skeletal systems, chronic and persistent thrombocytopenia, sometimes with leukopenia or anemia, poor growth with microcephaly, hypotonia, and mildly impaired intellectual development or learning disabilities. The disorder results from constitutive activation of the RAS signaling pathway and can be considered a RASopathy (Niemann et al., 2020; Miller et al., 2022).
For a discussion of genetic heterogeneity of thrombocytopenia, see 313900.|OMIM|N|
CN375878|Hoxha-Aliu syndrome (HXAL) is characterized by mildly impaired intellectual development and digital anomalies of the hands and feet (Hoxha and Aliu, 2023; Guo et al., 2023).
Biallelic missense mutations in the ERI1 gene have been reported to cause a more severe bone disorder, spondyloepimetaphyseal dysplasia, Guo-Campeau type (SEMDGC; 620663).|OMIM|N|
CN375879|The Guo-Campeau type of spondyloepimetaphyseal dysplasia (SEMDGC) is characterized by severe bone dysplasia resulting in significant short stature with variable anomalies of the spine, pelvis, hips, and extremities, including short, rudimentary, or absent digits. Patients also exhibit variable facial dysmorphisms (Guo et al., 2023).
Biallelic null mutations in the ERI1 gene have been reported to cause a less severe disorder, Hoxha-Alia syndrome, involving digital anomalies and mild intellectual disability (HXAL; 620662).|OMIM|N|
CN375899|A rare, photosensitive epileptic disorder characterized by highly stereotyped seizures. During these seizures, individuals with Sunflower syndrome turn toward a bright light while simultaneously waving one hand in front of their eyes. This unique behavior is coupled with abrupt lapses in consciousness.|MONDO|N|
CN375900|Any myopathy in which the cause of the disease is a variation in the CRPPA gene.|MONDO|N|
CN375901|Any retinopathy caused by variants in the PDE6A gene.|MONDO|N|
CN375902|Any maculopathy caused by a variant in the ELOVL4 gene.|MONDO|N|
CN375903|Any exudative vitreoretinopathy with or without osteoporosis caused by variants in the LRP5 gene.|MONDO|N|
CN375904|Any retinopathy caused by variants in the MAK gene.|MONDO|N|
CN375905|Any foveal hypoplasia with or without albinism caused by a variant in the GPR143 gene.|MONDO|N|
CN375906|Any exudative vitreoretinopathy caused by variants in the TSPAN12 gene.|MONDO|N|
CN375907|Any retinopathy caused by variants in the KIZ gene.|MONDO|N|
CN375908|Any retinopathy caused by a variant in the TOPORS gene.|MONDO|N|
CN375909|Any retinopathy caused by a variant in the PRPF8 gene.|MONDO|N|
CN375910|Any retinopathy caused by variants in the RD3 gene.|MONDO|N|
CN375911|Any ciliopathy caused by variants in the BBS9 gene.|MONDO|N|
CN375912|Any ciliopathy caused by variants in the BBS10 gene.|MONDO|N|
CN375913|Any retinopathy caused by a heterozygous variant in the BEST1 gene.|MONDO|N|
CN375914|Any retinopathy caused by bi-allelic variants in the BEST1 gene.|MONDO|N|
CN375915|Any vitreoretinochoroidopathy caused by a heterozygous variant in the BEST1 gene.|MONDO|N|
CN375916|Any retinopathy caused by bi-allelic variants in the IMPG2 gene.|MONDO|N|
CN375917|Any retinopathy caused by a heterozygous variant in the IMPG2 gene.|MONDO|N|
CN375918|Any retinopathy caused by a variant in the CACNA1F gene.|MONDO|N|
CN375919|Any retinopathy caused by variants in the CACNA2D4 gene.|MONDO|N|
CN375921|Any neurodevelopmental disorder in which the cause of the disease is a variation in the HNRNPC gene. It is characterized by global developmental delay, intellectual disability, behavioral abnormalities, and subtle facial dysmorphism. It is caused by heterozygous HNRNPC germline variants.|MONDO|N|
CN375922|A heart disease that is present at birth. Representative examples include atrial, ventricular, and atrioventricular septal defects, double-outlet right ventricle, tetralogy of Fallot, hypoplastic left heart syndrome, aortic stenosis, and coarctation of the aorta.|MONDO|N|
CN375923|A group of myopathies that includes Emery-Dreifuss muscular dystrophy (EDMD), and two allelic disorders characterized by the presence of reducing body on histopathology, namely reducing body myopathy (RBM) and scapuloperoneal myopathy.|MONDO|N|
CN375924|A spectrum of ciliopathy disorders that typically show autosomal recessive inheritance and includes Al-Gazali-Bakalinova syndrome, hydrolethalus syndrome 2, acrocallosal syndrome, Joubert syndrome 12.|MONDO|N|
CN375925|A group of disorders including Paget disease of bone (PBD), inclusion body myopathy (IBM), and less frequently frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). Phenotypic presentation and severity are highly variable, and individuals within the same family may present with different associated conditions.|MONDO|N|
CN375926|Any ectodermal dysplasia syndrome in which the cause of the disease is a variation in the CTSC gene. Variations in the CTSC gene can result in (1) Papillon-Lefevre syndrome (PLS) characterized by palmoplantar keratoderma, severe periodontitis affecting deciduous and permanent dentitions, and premature loss of dentition, (2) Haim-Munk syndrome (HMS) with additional features of arachnodactly, acroosteolysis, pesplanus, and onychogryphosis, (3) aggressive periodontitis 1 (AP1) characterized by severe and protracted gingival infections, leading to tooth loss. All three phenotypes are associated with autosomal recessive inheritance.|MONDO|N|
CN375927|Any endocrine system disorder in which the cause of the disease is inactivation of the GNAS gene. Phenotypes include pseudohypoparathyroidism Ia, Ib, and Ic (PHP-Ia, -Ib, -Ic), pseudopseudohypoparathyroidism (PPHP), progressive osseous heteroplasia (POH), and osteoma cutis (OC).|MONDO|N|
CN375928|A dyskeratosis congenita caused by impaired telomere maintenance resulting in short or very short telomeres. The phenotypic spectrum includes individuals with classic dyskeratosis congenita (DC) as well as those with very short telomeres and an isolated physical finding. Classic DC is characterized by a triad of dysplastic nails, lacy reticular pigmentation of the upper chest and/or neck, and oral leukoplakia, although this may not be present in all individuals. People with DC/TBD are at increased risk for progressive bone marrow failure (BMF), myelodysplastic syndrome or acute myelogenous leukemia, solid tumors (usually squamous cell carcinoma of the head/neck or anogenital cancer), and pulmonary fibrosis. Other findings can include eye abnormalities (epiphora, blepharitis, sparse eyelashes, ectropion, entropion, trichiasis), taurodontism, liver disease, gastrointestinal telangiectasias, and avascular necrosis of the hips or shoulders. Additional findings include cerebellar hypoplasia (Hoyeraal Hreidarsson syndrome) and bilateral exudative retinopathy and intracranial calcifications (Revesz syndrome and Coats plus syndrome). Onset and progression of manifestations of DC/TBD vary: at the mild end of the spectrum are those who have only minimal physical findings with normal bone marrow function, and at the severe end are those who have the diagnostic triad and early-onset BMF.|MONDO|N|
CN375929|Any muscular channelopathy in which the cause of the disease is a variation in the SCN4 gene. This is characteristic of a continuum in the clinical spectrum that includes sodium-channel myotonia, paramyotonia congenita, hypokalemic periodic paralysis type II and hyperkalemic periodic paralysis.|MONDO|N|
CN375930|Any neurologic condition in which the cause of the disease is a mutation in the TUBB4A gene.|MONDO|N|
CN375931|Any primary congenital glaucoma in which the cause of the disease is a mutation in the CYP1B1 gene.|MONDO|N|
CN375932|An X-linked syndromic intellectual disability caused by alterations to the SOX3 gene which leads to hypopituitarism with variable deficiency of hormones in the anterior lobe of the pituitary gland. In some cases there is also intellectual disability.|MONDO|N|
CN375933|A neurodevelopmental disorder caused by heterozygous variants in NACC1 and characterized by developmental delay, intellectual disability, epilepsy, cataracts, feeding difficulties, and recurring episodes of extreme irritability. Other phenotypes include hypotonia, delayed myelination, microcephaly, stereotypic hand movements, gastrointestinal tract issues, and sleeping problems.|MONDO|N|
CN375934|A heart disease that is present at birth caused by a variation in th HAND2 gene. Representative examples include tetralogy of fallot and ventricular septal defect.|MONDO|N|
CN375935|A neurodevelopmental disorder caused by heterozygous variants in SETD2 and characterized by intellectual disability or developmental delay, motor delay, speech delay, hypotonia, autism spectrum disorder, attention deficit disorder, and sometimes features such as macrocephaly, overgrowth, and dysmorphic features.|MONDO|N|
CN375937|A neonatal/infantile epilepsy syndrome where seizures start in the neonate between day 4 and 7 of life and are often unilateral clonic events that recur and may alternate sides from seizure to seizure. Seizures can be repetitive over hours to days. Seizures remit by 4-6 months of age. A proportion of those affected may have seizures in later life. The child is expected to have normal developmental progress. This is distinguished from familial neonatal epilepsy on the basis of family history. These entities may have similar genetic etiologies, with de novo mutations responsible for the lack of family history in self-limited neonatal seizures.|MONDO|N|
CN375940|A congenital malformation syndrome characterized by mandibulofacial dysostosis and anterior upper-limb defects, though occasionally, lower-limb defects have also been reported. Intrafamilial variability has been observed along with phenotype variability and severity including shoulder and pelvic girdle hypoplasia, fibular hypoplasia and eleven ribs.|MONDO|N|
CN375941|A metabolic heart condition characterized by variable cardiac hypertrophy, ventricular pre-excitation, and aberrant glycogen storage in the cardiac tissue due to a pathogenic variant in PRKAG2 that results in a net anabolic effect in cardiac cells.|MONDO|N|
CN375946|Any Birt-Hogg-Dube (BHD) syndrome in which the cause of the disease is a variation in the FLCN gene.|MONDO|N|
CN375948|Torsion dystonia for which no underlying cause has been identified.|MONDO|N|
CN375949|A carcinoma arising from the renal parenchyma. There is a strong correlation between cigarette smoking and the development of renal cell carcinoma. The clinical presentation includes : hematuria, flank pain and a palpable lumbar mass. A high percentage of renal cell carcinomas are diagnosed when an ultrasound is performed for other purposes. Radical nephrectomy is the standard intervention procedure. Renal cell carcinoma is generally considered to be resistant to radiation treatment and chemotherapy.|MONDO|N|
CN375950|A benign epithelial neoplasm arising from the sweat glands. Variants include the clear cell and nodular hidradenoma.|MONDO|N|
CN375951|Immunodeficiency-117 (IMD117) is an autosomal recessive immunologic disorder characterized by increased susceptibility to disseminated mycobacterial infection apparent in early childhood. Affected individuals develop mycobacterial disease after BCG (bacille Calmette-Guerin) vaccination and show increased susceptibility to other mycobacterial infections, such as M. avium. Immunologic workup shows impaired development of myeloid and lymphoid cell subsets that secrete and respond to gamma-interferon (IFNG; 147570) (et al., 2023).|OMIM|N|
CN375952|Neurodegeneration with brain iron accumulation-9 (NBIA9) is characterized by global developmental delay apparent from infancy and progressive neurodegeneration of motor and cognitive skills. Affected individuals have delayed walking or inability to walk, spasticity with hyperreflexia, ataxia, dystonia, and poor or absent language. Additional more variable features include dysphagia, failure to thrive, poor growth, microcephaly, hypotonia, impaired vision, and seizures. Brain imaging shows progressive cerebral and cerebellar atrophy, iron accumulation in the basal ganglia, thin corpus callosum, and pontocerebellar hypoplasia. The disorder can be classified as a neuroferritinopathy (see NBIA3, 606159) (Shieh et al., 2023).
For a general phenotypic description and a discussion of genetic heterogeneity of NBIA, see NBIA1 (234200).|OMIM|N|
CN375955|Autosomal recessive spastic ataxia-10 (SPAX10) is a slowly progressive movement disorder with a variable age at onset (range infancy to adulthood). Affected individuals present with gait abnormalities due to spasticity and hyperreflexia of the lower limbs and/or cerebellar gait and limb ataxia. More variable features may include dysarthria, saccadic eye movements, and mild cognitive impairment. Some patients show cerebellar atrophy on brain imaging. The disorder can be classified as a movement disorder on the ataxia-spasticity spectrum (ASS) (Cordts et al., 2022).
For a discussion of genetic heterogeneity of spastic ataxia, see SPAX1 (108600).|OMIM|N|
CN375956|Common variable immunodeficiency-15 (CVID15) is an autosomal dominant immunologic disorder characterized by the onset of severe recurrent infections in infancy or early childhood. Laboratory studies show hypogammaglobulinemia with antibody deficiencies of IgM, IgG, and IgA due to impaired plasma cell homeostasis, although other B cell subset numbers are normal. T and NK cells are also normal. Treatment with IV Ig results in a favorable clinical response to recurrent infections (Schubert et al., 2018).
For a general description and a discussion of genetic heterogeneity of common variable immunodeficiency, see CVID1 (607594).|OMIM|N|
CN375957|Autosomal dominant severe congenital neutropenia-11 (SCN11) is characterized by the onset of recurrent infections, mainly bacterial, in early childhood. Laboratory studies show severe neutropenia due to maturation arrest and impaired development of myeloid cells. Other leukocyte subsets, including B cells and NK cells, may also be subtly affected. Patients should be followed for possible renal dysfunction (Van Nieuwenhove et al., 2020).
For discussion of genetic heterogeneity of severe congenital neutropenia, see SCN1 (202700).|OMIM|N|
CN375981|The inability to recognize objects by touch is called tactile agnosia.|HPO|N|
CN376030|Hypomyelinating leukodystrophy-27 (HLD27) is an autosomal recessive neurologic disorder characterized by global developmental delay with impaired motor and intellectual development apparent from infancy. Affected individuals have poor or absent speech, ataxic gait or inability to sit or walk, spasticity, and abnormal eye movements (nystagmus, gaze palsy). Some patients have seizures. Disease progression and developmental regression consistent with neurodegeneration is often observed. Brain imaging shows progressive hypomyelinating leukodystrophy, cerebral and cerebellar atrophy, and thin corpus callosum (Misceo et al., 2023).
For a general phenotypic description and a discussion of genetic heterogeneity of HLD, see 312080.|OMIM|N|
CN376054|A polypoid lesion composed of fibrous tissue and epithelium. Representative examples include skin tag, anal fibroepithelial polyp, and gingival fibroepithelial polyp.|MONDO|N|
CN376062|A benign or borderline neoplasm that arises from the ovaries and the fallopian tubes. It is characterized by the presence of cystic glandular structures and fibrous tissue.|MONDO|N|
CN376064|Familial partial lipodystrophy type 8 (FPLD8) is an autosomal dominant disorder characterized by abnormal distribution of subcutaneous adipose tissue. Affected individuals showed selective loss of subcutaneous adipose tissue from the limbs, resulting in a muscular appearance, beginning around 13 to 15 years of age. There is also abnormal accumulation of subcutaneous adipose tissue in the dorsal neck and face, as well as in the posterior thoracic and abdominal regions. The disorder is associated with metabolic abnormalities, including diabetes mellitus and hyperlipidemia (Garg et al., 2016).
For a general description and a discussion of genetic heterogeneity of familial partial lipodystrophy (FPLD), see 151660.|OMIM|N|
CN376065|Congenital generalized lipodystrophy type 5 (CGL5) is an autosomal recessive metabolic disorder characterized by childhood onset of lipodystrophy, severe nonalcoholic fatty liver disease, dyslipidemia, hypertriglyceridemia, low HDL, and insulin-resistant diabetes mellitus. Affected individuals also have short stature (Payne et al., 2014).
For a discussion of genetic heterogeneity of congenital generalized lipodystrophy, see CGL1 (608594).|OMIM|N|
CN376067|A form of polydipsia characterized by excessive fluid intake in the absence of physiological stimuli to drink.|MONDO|N|
CN376072|An ependymoma, often supratentorial in location, characterized by the presence of ependymal cells with a perinuclear halo.|MONDO|N|
CN376074|Inflammation of the brain secondary to an immune response triggered by the body itself.|MONDO|N|
CN376078|An adenocarcinoma characterized by the presence of complex micropapillary structures covered by round and cuboidal cells with a high nuclear to cytoplasmic ratio.|MONDO|N|
CN376080|A learning disability involving difficulty reading resulting primarily from neurological factors which affect any part of the reading process.|MONDO|N|
CN376108|A neuroendocrine tumor arising from the pancreas. It is characterized by inappropriate secretion of gastrin and associated with Zollinger Ellison syndrome. The latter is characterized by the presence of peptic ulcer, gastroesophageal reflux disease, abdominal pain, diarrhea, and malabsorption.|MONDO|N|
CN376111|Any neurodevelopmental disorder in which the cause of the disease is a variation in the SYNCRIP gene. It is characterized by a neurologic and developmental disorder with autism spectrum disorder (ASD), intellectual disability (ID), and epilepsy. Other signs and symptoms may include cerebral structural anomalies such as periventricular nodular heterotopia and widening of subarachnoid spaces.|MONDO|N|
CN376115|Premature ovarian failure-23 (POF23) is characterized by female infertility due to reduction of ovarian reserve. After normal menarche, patients experience oligomenorrhea and secondary amenorrhea (Caburet et al., 2019).
For a general phenotypic description and discussion of genetic heterogeneity of premature ovarian failure, see POF1 (311360).|OMIM|N|
CN376119|The spectrum of COL4A1-related disorders includes small-vessel brain disease of varying severity including porencephaly, variably associated with eye defects (retinal arterial tortuosity, Axenfeld-Rieger anomaly, cataract) and systemic findings (kidney involvement, muscle cramps, cerebral aneurysms, Raynaud phenomenon, cardiac arrhythmia, and hemolytic anemia).|MONDO|N|
CN376120|The spectrum of ASAH1-related disorders ranges from Farber disease (FD) to spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME). The diagnosis of an ASAH1-related disorder is established in a proband with suggestive clinical findings by identification of biallelic pathogenic variants in ASAH1 and/or decreased activity of the enzyme acid ceramidase in peripheral blood leukocytes or cultured skin fibroblasts.|MONDO|N|
CN376128|A neoplasm that arises from a pre-existing lower grade lesion, or as a result of a primary lesion that has spread to secondary sites, or due to a complication of a cancer treatment.|MONDO|N|
CN376171|A T-cell non-Hodgkin lymphoma arising from the skin. Representative examples include mycosis fungoides and primary cutaneous anaplastic large cell lymphoma.|MONDO|N|
CN376187|A disorder characterized by behavioral and/or psychological abnormalities, often accompanied by physical symptoms. The symptoms may cause clinically significant distress or impairment in social and occupational areas of functioning. Representative examples include anxiety disorders, cognitive disorders, mood disorders and schizophrenia.|MONDO|N|
CN376196|X-linked recessive immunodeficiency-118 (IMD118) is characterized by increased susceptibility to the development of disseminated mycobacterial infections in infancy, notably after BCG vaccination. Affected males usually recover with treatment, have no other infections, and show normal growth and development. Immunologic workup shows normal numbers of circulating leukocyte subsets, but functional studies show impaired JAK2 (147796) translation in certain T lymphocytes, resulting in defective IL23 (see 605580)-dependent induction of IFNG (147570) production and secretion from other immune cells (Bohlen et al., 2023).|OMIM|N|
CN376198|Familial partial lipodystrophy type 9 (FPLD9) is an autosomal recessive metabolic disorder characterized by the loss of adipose tissue resulting in a lean appearance with muscular hypertrophy, usually most apparent in the limbs and trunk. Some patients have more generalized lipoatrophy, whereas others have abnormal fat accumulation in the face and neck regions and show cushingoid or acromegalic facial features. The disorder is associated with insulin-resistant diabetes mellitus, dyslipidemia, low HDL, and hepatic steatosis. Symptom onset is usually in the first decade. Females tend to have hirsutism and polycystic ovary syndrome, whereas males have gynecomastia. Most patients also have neurologic involvement, including demyelinating polyneuropathy (in most) and delayed development with intellectual disability (in about half) (Schuermans et al., 2023).
For a discussion of genetic heterogeneity of familial partial lipodystrophy (FPLD), see 151660.|OMIM|N|
CN376199|Developmental dysplasia of the hip-3 (DDH3) is characterized by an acetabulum with significantly decreased volume, which increases local stress on the articular surface and causes instability of the hip joint, with pain, disability, and eventually osteoarthritis of the joint. A mouse model has demonstrated that LRP1 deficiency causes DDH through early closure of the Y-shaped triradiate cartilage of the acetabulum (Yan et al., 2022).
For a general phenotypic description and discussion of genetic heterogeneity of DDH, see DDH1 (142700).|OMIM|N|
CN376220|An instance of night blindness that is caused by an inherited modification of the individual's genome.|MONDO|N|
CN376227|An instance of polycythemia that is acquired during the lifetime of the individual.|MONDO|N|
CN376234|A disease involving the auditory system.|MONDO|N|
CN376238|A poorly differentiated squamous cell carcinoma characterized by the presence of malignant cells with spindle cell features.|MONDO|N|
CN376272|Moyamoya disease-7 (MYMY7) is a cerebrovascular disease that leads to strokes and neurologic deficits. The age at symptom onset is highly variable, ranging from childhood to adulthood. Brain imaging shows progressive occlusion and stenosis of the distal internal carotid arteries with collateral vessel formation. Intracranial aneurysms and involvement of the posterior circulation, including the basilar artery, may also be observed (Pinard et al., 2023).
For a discussion of genetic heterogeneity of moyamoya disease, see MYMY1 (252350).|OMIM|N|
CN376303|Autosomal dominant intellectual developmental disorder-74 (MRD74) is characterized by global developmental delay, including delay of gross and fine motor skills and speech delay, and variable subtle dysmorphic facial features (Niggl et al., 2023).|OMIM|N|
CN376308|Autosomal recessive intellectual developmental disorder-81 (MRT81) is characterized by a variable neurobehavioral and neuromuscular phenotype (summary by Nair et al., 2021).|OMIM|N|
CN376339|Yuksel-Vogel-Bauer syndrome (YUVOB) is a multisystemic disorder characterized by variable congenital defects involving the brain, kidney, heart, and/or skeletal system. Features may include hydrocephalus, developmental delay, cleft lip/palate, cystic renal dysplasia or tubular leak, cardiac septal defects, and broad hands and feet (Yuksel et al., 2019; Marquez et al., 2021).|OMIM|N|
CN376340|Spermatogenic failure-89 (SPGF89) is characterized by male infertility due to severely reduced progressive motility of sperm (Sha et al., 2023).
For a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).|OMIM|N|
CN376362|X-linked intellectual developmental disorder-113 (XLID113) is characterized by mild speech delay and learning difficulties in affected males (Grozdanov et al., 2020).|OMIM|N|
CN376363|A phenotypic abnormality obvserved in a biospecimen such as a biopsy or an extirpated tumor or tissue.|HPO|N|
CN376364|Any abnormal phenotypic feature observed in a biospecimen derived from a lymph node, generally obtained by lymph node biopsy (removal of lymph node tissue for microscopic examination).|HPO|N|
CN376365|Any phenotypic abnormality of the architecture of the tissue of a lymph node.|HPO|N|
CN376366|Any phenotypic abnormality within cells located in a lymph node.|HPO|N|
CN376367|Abnormal expression of an antigen (marker) that by cells located in a lymph node.|HPO|N|
CN376368|An alteration that affects multiple components of the architecture of a lymph node.|HPO|N|
CN376369|Effacement of architecture typically refers to a cellular infiltrate destroying the normal follicular architecture of a lymph node. This effacement may result in sheets of cells that do not form clear architecture (seen in many lymphomas) or may lead to replacement of the normal architecture by atypical architecture, for example effacement of normal lymph node architecture (including normal follicles and patent lymph node sinuses) by many abnormal follicles in follicular lymphoma.|HPO|N|
CN376370|In contrast to normal lymph node architecture or that of follicular lymphoma, where follicles are typically distinct and readily identifiable on H&E stained biopsy sections, the cells within an atypical lymph node may show what appear to groups of cells forming vague nodules but not forming clear follicles.|HPO|N|
CN376371|Migration of substantial numbers of lymphocytes into the capsule of a lymph node.|HPO|N|
CN376372|Migration of lymphocytes into the soft tissues surrounding the lymph node.|HPO|N|
CN376373|Number of epithelioid histiocytes (histiocytes are tissue-resident macrophages) located within a lymph node above the upper limit of normal.|HPO|N|
CN376374|Many individual (not clustered) epithelioid histiocytes throughout at least part of a lymph node.|HPO|N|
CN376375|Formation of clusters (group of cells positioned near each other) of epithelioid histiocytes within a lymph node.|HPO|N|
CN376376|Any phenotypic abnormality of the architecture of follicles of a lymph node.|HPO|N|
CN376377|Atypical lymph node follicles that have mantle zone cells invaginating/infiltrating into the follicle centers, which is said to confer a flower-like appearance.|HPO|N|
CN376378|In contrast to follicular lymphoma, which typically is a lymphoma that forms follicles or potentially completely replaces normal follicles, some lymphomas (most commonly marginal zone lymphoma) can infiltrate normal follicles so both normal lymphocytes and the infiltrating lymphoma cells are present. This is called colonization of follicles by the lymphoma cells.|HPO|N|
CN376379|Reduction in the average distance between adjacent lymph node follicles.|HPO|N|
CN376380|An abnormal morphology of hyperplastic lymph node follicles characterized by distortion of the follicular architecture by tongues and clusters of dark blue mantle cells impinging on and invading the reactive germinal center (Mostly T cells and mantle-zone B cells).|HPO|N|
CN376381|A loss of the typical polarization of the architecture of a lymph node germinal center.|HPO|N|
CN376382|A deviation from the typically fairly round or oval form of a lymph node germinal center.|HPO|N|
CN376383|An abnormality of the structure of the mantle or marginal zone of a lymph node.|HPO|N|
CN376386|Enlargement of the typical outer ring of small lymphocytes (mantle zone) surrounding a germinal center of a lymph node.|HPO|N|
CN376387|Reduced demarcation of the border between germinal centers and mantle zones. This border is typically seen as a crisp line on hematoxylin and eosin (H&E)-stained lymph node sections.|HPO|N|
CN376388|Any phenotypic abnormality of germinal centers of a lymph node.|HPO|N|
CN376389|This refers to an architectural pattern of infiltration where atypical lymphocytes surround germinal centers, often expanding the mantle zones but without effacing architecture.|HPO|N|
CN376391|Lack of the typical easily recognized delineation of primary follicles within lymph nodes.|HPO|N|
CN376392|Lack of observable tingible body macrophages (TBMs) in germinal centers (GCs) of secondary lymphoid follicles. TBMs represent unique, large phagocytic cells that reside and are a subset of mononuclear phagocytes.|HPO|N|
CN376393|Absence of extreme paucity of mitotic figures in a lymph node germinal center.|HPO|N|
CN376394|Lack of the typical polarization of the outer ring of small lymphocytes (mantle zone) surrounding a germinal center of a lymph node.|HPO|N|
CN376395|Hyalinized means to become clear/translucent such as collagen becoming more pale staining (collagen is typically quite eosinophilic, meaning attracted to the pink/red dye eosin); however, with regard to vessels in the lymph node, hyalinization is often used to describe vessel walls that appear markedly thickened or surrounded by eosinophilic material such as collagen, not necessarily translucent appearing.|HPO|N|
CN376396|Collagen deposition, typically with decreased cellularity, within lymph-node follicles.|HPO|N|
CN376397|Loss of the typical patency (openness) of lymph node sinuses.|HPO|N|
CN376398|Proliferation centers are a finding specific to chronic lymphocytic leukemia/small lymphocytic lymphoma where regions (typically relatively small, comparable to the size of a lymph node follicle) appear more pale on H&E stained sections (though they may become enlarged to merge together). These areas contain increased numbers of enlarged lymphoma cells with nucleoli (prolymphocytes and paraimmunoblasts) and show a higher proliferation rate (readily visualized with a Ki-67 immunohistochemical stain) than surrounding lymphoma cells. They can be mistaken as vague follicle formation and are therefore sometimes referred to as pseudofollicles.|HPO|N|
CN376399|Lymphocytes in the mantle zones of lymph node secondary follicles show cellular atypia such as enlarged size, increased cytoplasm, atypical distribution of chromatin, or irregular nuclear contours.|HPO|N|
CN376400|Eosinophils count within a lymph node above normal limits.|HPO|N|
CN376401|Number of plasma cells per lymph node above the upper limit of normal.|HPO|N|
CN376402|Increased numbers of mitotic figures outside of germinal centers.|HPO|N|
CN376403|Lymphocytes that show morphologic features resembling monocytes, such as increased cytoplasm and slightly enlarged nuclei that are more irregular than most lymph node lymphocytes.|HPO|N|
CN376404|Decreased morphological variability of lymph node lymphocytes as compared to the typically somewhat heterogeneous morphology of populations of benign lymph node lymphocytes.|HPO|N|
CN376405|An increased number of large lymphocytes within a lymph node compared to a normal non-reactive lymph node.|HPO|N|
CN376406|Hodgkin cells are typically large and often show very large nucleoli and sometimes binucleation or multinucleation. Reed-Sternberg cells are a type of Hodgkin cell that is binucleated with very large nucleoli that stains slightly red on H&E stained sections (often said to mimic owl eyes). Other Hodgkin cell morphologies include cells that are dying with dark basophilic (blue) nuclei that appear somewhat smudged (mummified cells) and cells with a large space around or adjacent to the nuclei and retracted cytoplasm after tissue fixation (lacunar cells). Hodgkin cells are characteristic of Hodgkin lymphoma, however several non-Hodgkin lymphomas and noN-neoplastic conditions are known to sometimes show a few similar morphology cells.|HPO|N|
CN376408|Lymph node lymphocyte nuclei that are more irregular than the typical round to slightly oval shapes of the majority of lymph node lymphocytes.|HPO|N|
CN376409|Dutcher bodies are collections of immunoglobulin protein that overlie or invaginate into the nucleus of plasma cells. These nuclear pseudoinclusions can occasionally be seen in reactive states and may be increased in specific neoplastic conditions.|HPO|N|
CN376410|Nuclei of lymphocytes with less dense, evenly distributed chromatin than the normal densely packed, often clumped chromatin of mature lymphocytes.|HPO|N|
CN376411|Any phenotypic abnormality of the chromatin (complex of DNA and protein which comprises chromosomes) of lymphocytes that are located within a lymph node.|HPO|N|
CN376412|Nuclei of lymphocytes show multiple small densely packed areas of chromatin that appear as relatively evenly spaced clumps of basophilic (blue) staining within the nuclei on Hematoxylin and eosin (H&E) stained sections.|HPO|N|
CN376413|Any phenotypic abnormality of the cytoplasm (material located within the cell membrane but excluding the nucleus) of lymphocytes that are located within a lymph node.|HPO|N|
CN376414|The amount of cytoplasm in lymphocytes is even less than the relatively little cytoplasm found in the majority of lymphocytes within lymph nodes.|HPO|N|
CN376415|Increased amount of cytoplasm compared to the majority of lymphocytes in a benign lymph node.|HPO|N|
CN376416|Detection of an abnormal level of CD19 on the cell(s) of interest in a lymph node with the use of anti-CD19 antibodies conjugated to a chromogen (for immunohistochemistry) or fluorophore (for flow cytometry).|HPO|N|
CN376417|Abnormal expression of an antigen (marker) that is normally expressed by B lymphocytes.|HPO|N|
CN376418|Detection of abnormal levels of CD20 on the cell(s) of interest with the use of anti-CD20 antibodies conjugated to a chromogen (for immunohistochemistry) or fluorophore (for flow cytometry).|HPO|N|
CN376419|Detection of the presence of CD79a on the cell(s) of interest with the use of anti-CD79a antibodies conjugated to a chromogen (for immunohistochemistry) or fluorophore (for flow cytometry).|HPO|N|
CN376420|Increased levels of CD20 expression compared to normal B cells.|HPO|N|
CN376421|Decreased levels of CD20 expression compared to normal B cells.|HPO|N|
CN376422|Decreased levels of CD19 expression compared to normal B cells.|HPO|N|
CN376423|Increased levels of CD19 expression compared to normal B cells.|HPO|N|
CN376424|Detection of the presence of PAX5 on the cell(s) of interest with the use of anti-PAX5 antibodies conjugated to a chromogen (for immunohistochemistry).|HPO|N|
CN376425|Positive staining for BCL2 apoptosis regulator protein in lymph-node germinal center B cells.|HPO|N|
CN376426|Applies to a sign or symptom that is distributed around the nipples or located in the nipples.|HPO|N|
CN376427|The term breast microcalcification is used to define calcium deposits in the breast with a diameter of less than 1 mm.|HPO|N|
CN376429|Thickening of the skin around the nipple with a distribution that is not equal on all sides.|HPO|N|
CN376430|Perimenopause, or the menopausal transition, encompasses that period of time during which physiologic changes mark progression toward a woman's final menstrual period. This phase begins with the onset of menstrual irregularities and continues until a woman reaches menopause, or one year after amenorrhea has occurred. Perimenopause can last for a variable amount of time, the median of which is four years.|HPO|N|
CN376431|Applies to a sign or symptom that is improved or made more bearable by menopause.|HPO|N|
CN376432|Yielding to alternate pressure by palpating fingers so as to suggest that the area being felt contains fluid.|HPO|N|
CN376436|Breast tissue with a lumpy or ropelike texture.|HPO|N|
CN376437|The amount of a nitrogen compound in the urine, normalized for urine concentration, is outside of normal limits.|HPO|N|
CN376438|The amount of biopterin in the urine, normalized for urine concentration, is below the lower limit of normal.|HPO|N|
CN376439|The concentration of guanidinoacetic acid in the urine, normalized for urine concentration, is outside normal limits.|HPO|N|
CN376440|The concentration of guanidinoacetic acid in the urine, normalized for urine concentration, is above the upper limit of normal.|HPO|N|
CN376441|The amount of neopterin in the urine, normalized for urine concentration, is below the lower limit of normal.|HPO|N|
CN376442|The amount of inosine in the urine, normalized for urine concentration, is outside the limits of normal.|HPO|N|
CN376443|The amount of inosine in the urine, normalized for urine concentration, is above the upper limit of normal.|HPO|N|
CN376444|The amount of guanosine in the urine, normalized for urine concentration, is outside the limits of normal.|HPO|N|
CN376445|The amount of guanosine in the urine, normalized for urine concentration, is above the upper limit of normal.|HPO|N|
CN376446|The concentration of hypoxanthine in the urine, normalized for urine concentration, is outside of normal limits.|HPO|N|
CN376447|The concentration of hypoxanthine in the urine, normalized for urine concentration, is below the lower limit of normal.|HPO|N|
CN376448|Any kind of test for an infectious agent in a specimen positive.|HPO|N|
CN376449|The presence of viral DNA (e.g., cytomegalovirus, herpes simplex virus, or varicella zoster virus) in the aqueous humor of the eye.|HPO|N|
CN376450|History of use of electronic cigarettes (vaping).|HPO|N|
CN376451|Erythematous macules or patches over extensor surfaces of elbows, knuckles, knees, and ankles.|HPO|N|
CN376452|Deposition of excess calcium in the interosseous membrane of the leg, which extends between the interosseous crests of the tibia and fibula and separates the anterior and posterior muscles of the lower leg.|HPO|N|
CN376453|A type of elbow fracture that involves the distal humerus just above the elbow.|HPO|N|
CN376454|Alcohol abuse or dependence.|HPO|N|
CN376456|Refers to pain or discomfort that is perceived to travel from the chest into the left arm.|HPO|N|
CN376457|Refers to pain or discomfort that is perceived to travel from the chest into the right arm.|HPO|N|
CN376458|The capability that a small joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes. Small joints include metacarpophalangeal joints, proximal interphalangeal joints, \nsecond to fifth metatarsophalangeal joints, and wrists.|HPO|N|
CN376459|The capability that a large joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes. Large joints include shoulders, elbows, hips, knees, and ankles.|HPO|N|
CN376460|The presence of autoantibodies (immunoglobulins) in the blood circulation that react against one or more components on the thyroid.|HPO|N|
CN376461|Positive serology for a exposure to an infectious agent (i.e., examining serum for the presence of pathogen-specific antibodies).|HPO|N|
CN376462|The presence of antibodies in the blood circulation that react against a component of the severe acute respiratory syndrome coronavirus type 2 (SARS-CoV-2).|HPO|N|
CN376463|The presence of antibodies in the blood circulation that react against a component of the West Nile virus.|HPO|N|
CN376464|The presence of antibodies in the blood circulation that react against a component of a microfilaria (parasite).|HPO|N|
CN376465|The presence of antibodies in the blood circulation that react against a component of trypanosoma cruzi.|HPO|N|
CN376466|The presence of antibodies in the blood circulation that react against a component of chikungunya virus.|HPO|N|
CN376467|The presence of antibodies in the blood circulation that react against a component of chlamydia psittaci.|HPO|N|
CN376468|The presence of antibodies in the blood circulation that react against a component of herpes simplex.|HPO|N|
CN376469|The presence of antibodies in the blood circulation that react against a virus.|HPO|N|
CN376470|The presence of antibodies in the blood circulation that react against a parasite.|HPO|N|
CN376471|The presence of antibodies in the blood circulation that react against a bacterium.|HPO|N|
CN376472|The presence of antibodies in the blood circulation that react against a component of the Japanese encephalitis virus.|HPO|N|
CN376473|The presence of antibodies in the blood circulation that react against a component of chlamydia trachomatis.|HPO|N|
CN376474|The presence of antibodies in the blood circulation that react against a component of the Epstein Barr virus (EBV).|HPO|N|
CN376475|The presence of antibodies in the blood circulation that react against a component of a parasite of the genus Babesia (parasite).|HPO|N|
CN376476|The presence of antibodies in the blood circulation that react against a component of the Zika virus.|HPO|N|
CN376477|Positive (abnormal) result of a test such as polymerase chain reaction that is targeted against a nucleic acid sequence specific for a pathogen.|HPO|N|
CN376478|Detection of nucleic acid of a microfilarial parasite in the blood circulation.|HPO|N|
CN376479|Detection of nucleic acid of the JC-virus (JC-Polyomavirus, John Cunningham virus) in the blood circulation.|HPO|N|
CN376480|Implantation of the placenta over or near the internal os of the cervix.|HPO|N|
CN376481|Any deviation of the concentration of an orrganic compound from the normal range. An organic compound is defined as any compound that contains a carbon atom.|HPO|N|
CN376482|Any deviation of the concentration of beta-carotene in the blood circulation from the normal range.|HPO|N|
CN376483|The concentration of beta-carotene in the blood circulation is below the lower limit of normal.|HPO|N|
CN376484|The concentration of beta-carotene in the blood circulation is above the upper limit of normal.|HPO|N|
CN376485|Blocked mammary ducts represent an area of localized milk stasis, typically associated with breast engorgement and resulting in a localized tender breast lump or area of blushed color; the breast may feel hot; and there may be a white, painful bleb on the end of the nipple.|HPO|N|
CN376486|The presence of antibodies in the blood circulation that react against a fungus.|HPO|N|
CN376487|The presence of antibodies in the blood circulation that react against a component of a fungus of the Coccidioides genus.|HPO|N|
CN376488|The presence of antibodies in the blood circulation that react against a component of a fungus of the Cryptoccous genus.|HPO|N|
CN376489|The presence of antibodies in the blood circulation that react against a mycoplasmal component.|HPO|N|
CN376490|The presence of antibodies in the blood circulation that react against a component of a rickettsial bacterium. Rickettsiae are gram-negative bacteria with an obligate intracellular life cycle circulating between mammalian hosts and hematophagous arthropod vectors|HPO|N|
CN376491|The presence of antibodies in the blood circulation that react against a component of Bartonella.|HPO|N|
CN376492|The presence of antibodies in the blood circulation that react against a component of Dengue virus.|HPO|N|
CN376493|The presence of antibodies in the blood circulation that react against a component of an Arbovirus.|HPO|N|
CN376494|The presence of antibodies in the blood circulation that react against a component of lymphocytic choriomeningitis virus (LCMV).|HPO|N|
CN376495|The presence of antibodies in the blood circulation that react against a component of Varicella-zoster virus.|HPO|N|
CN376496|The presence of antibodies in the blood circulation that react against a component of rubella virus.|HPO|N|
CN376497|The presence of antibodies in the blood circulation that react against a component of cytomegalovirus (CMV).|HPO|N|
CN376498|The presence of antibodies in the blood circulation that react against a component of measles virus.|HPO|N|
CN376499|The presence of antibodies in the blood circulation that react against a component of a parasite of the genus Schistosomiasis is a parasitic disease historically known as bilharzia caused by the trematode of the genus Schistosoma. Schistosomiasis is a parasitic disease historically known as bilharzia caused by the trematode of the genus Schistosoma.|HPO|N|
CN376500|The presence of antibodies in the blood circulation that react against a component of a Powassan virus (POW), which is an arbovirus within the family of Flaviviruses primarily found in the Northeastern United States, Canada, and Russia. It is a zoonotic infection transmitted to humans by several tick species and is the only member of the tick-borne flaviviruses endemic to North America.|HPO|N|
CN376501|Detection of an marker such as a protein by immunohistochemistry or related investigation techniques. The presence or absence of such markers can be used to identify cell types on the basis of a profile of expressed markers. These terms do not imply abnormality and can be used for any cell type or organ.|HPO|N|
CN376502|Detection of the presence of BCL2 on the cell(s) of interest with the use of anti-BCL2 antibodies conjugated to a chromogen (for immunohistochemistry) or fluorophore (for flow cytometry).|HPO|N|
CN376503|Detection of the presence of BCL6 on the cell(s) of interest with the use of anti-BCL6 antibodies conjugated to a chromogen (for immunohistochemistry) or fluorophore (for flow cytometry).|HPO|N|
CN376504|Detection of the presence of CD5 on the cell(s) of interest with the use of anti-CD5 antibodies conjugated to a chromogen (for immunohistochemistry) or fluorophore (for flow cytometry).|HPO|N|
CN376505|Detection of the presence of CD10 on the cell(s) of interest with the use of anti-CD10 antibodies conjugated to a chromogen (for immunohistochemistry) or fluorophore (for flow cytometry).|HPO|N|
CN376506|Detection of the presence of CD23 on the cell(s) of interest with the use of anti-CD23 antibodies conjugated to a chromogen (for immunohistochemistry) or fluorophore (for flow cytometry).|HPO|N|
CN376507|Detection of the presence of CD38 on the cell(s) of interest with the use of anti-CD38 antibodies conjugated to a chromogen (for immunohistochemistry) or fluorophore (for flow cytometry).|HPO|N|
CN376508|Detection of the presence of CD45 on the cell(s) of interest with the use of anti-CD45 antibodies conjugated to a chromogen (for immunohistochemistry) or fluorophore (for flow cytometry).|HPO|N|
CN376509|Detection of the presence of cyclin D1 on the cell(s) of interest with the use of anti-cyclin D1 antibodies conjugated to a chromogen (for immunohistochemistry) or fluorophore (for flow cytometry).|HPO|N|
CN376510|Detection of the presence of FMC7 on the cell(s) of interest with the use of anti-FMC7 antibodies conjugated to a chromogen (for immunohistochemistry) or fluorophore (for flow cytometry).|HPO|N|
CN376511|Detection of the presence of CD19 on the cell(s) of interest with the use of anti-CD19 antibodies conjugated to a chromogen (for immunohistochemistry) or fluorophore (for flow cytometry).|HPO|N|
CN376512|Detection of the presence of CD20 on the cell(s) of interest with the use of anti-CD20 antibodies conjugated to a chromogen (for immunohistochemistry) or fluorophore (for flow cytometry).|HPO|N|
CN376513|A reduction in the intensity of the breath sound as ascertained by auscultation of the lung.|HPO|N|
CN376514|Bilateral cleft lip in which the cleft lip on one side is complete (i.e. starts from the bottom of the upper lip and reaches the nasal cavity), and the one on the other side is incomplete (i.e. starts from the bottom of the upper lip but does not reach the nasal cavity) or microform (i.e. a notch, groove, or scar without noticeable rupture of the lip).|HPO|N|
CN376515|Congenital abnormality with cleft (gap or opening) in the craniofacial bones. Craniofacial cleft includes facial cleft, orofacial clef, and cleft of the jaw.|HPO|N|
CN376516|A tendency to mix up left and right in one's own body space, typically elicited by asking a person to perform a two-stage command involving specified lateralized anatomy.|HPO|N|
CN376517|Concentration of DnaJ homolog subfamily B member 9 (DNAJB9) in the blood circulation above the upper limit of normal.|HPO|N|
CN376518|A partial or complete break in the olecranon,which is the proximal articular portion of the ulna and makes up part of the elbow.|HPO|N|
CN376520|Aspiration or inhalation of lipid-containing products.|HPO|N|
CN376521|Symmetric poikiloderma of hips and lateral thighs below the greater trochanter.|HPO|N|
CN376522|A rare neoplasm consisting of a monomorphic population of basaloid epithelial cells, and it accounts for approximately 1-2% of all salivary gland tumors.|HPO|N|
CN376523|Elevated Hemidiaphragm is a condition where one portion of the diaphragm is higher than the other. Elevated hemidiaphragm occurs when one side of the diaphragm becomes weak from muscular disease or loss of innervation due to phrenic nerve injury.|HPO|N|
CN376525|Linear streaks and swirls of macular hyperpigmentation along the lines of Blaschko.|HPO|N|
CN376526|Guilt that is excessive in that it is based on an incorrect judgment (that one is responsible for a negative outcome) or is out of proportion to the committed offense.|HPO|N|
CN376529|Refers to pain that is worse when the affected individual lies down (flat).|HPO|N|
CN376530|Abnormally increased ability to move of the tympanic membrane.|HPO|N|
CN376531|Concentration of vitamin B12 in the blood circulation above the upper limit of normal.|HPO|N|
CN376532|The concentration of soluble FASL in the blood circulation is above the upper limit of normal. The first apoptosis signal receptor (FAS) pathway regulates apoptosis and is critical for proper development and functioning of the immune system. FAS ligand (FASL) can bind to FAS receptors.|HPO|N|
CN376533|A disorder of the internal anal sphincter (IAS) in which the IAS fails to relax that manifests clinically as intractable constipation.|HPO|N|
CN376534|History of treatment with an anthracycline chemotherapy agent.|HPO|N|
CN376535|A pattern of episodic heavy alcohol use characterized by the consumption of a high number of drinks per occasion.|HPO|N|
CN376536|Concentration of thrombopoietin in the blood circulation below the lower limit of normal. Thrombopoietin is a glycoprotein hormone produced by the liver and kidney that stimulates the production and differentiation of megakaryocytes.|HPO|N|
CN376537|A rare hamartomatous malformation characterized by the predominant proliferation of normal collagen fibers and normal, decreased, or increased elastic fibers. Collagenomas may be solitary or multiple, sporadic, acquired or inherited.|HPO|N|
CN376538|Physical activity levels less than those required for optimal health and prevention of premature death.|HPO|N|
CN376539|Abnormally dark color of cerumen (earwax), which is a waxy substance secreted in the ear canal that normally has a brown, orange, red, yellowish or gray.|HPO|N|
CN376540|A history of high intake of spciy foods with ingrediaents such as capsaicin, pepper, chili, ginger, garlic, onion, fenugreek, and turmeric.|HPO|N|
CN376541|Brown pigment spots in the limbus (border between the cornea and the sclera).|HPO|N|
CN376542|Hazardous drinking is defined as a quantity or pattern of alcohol consumption that places individuals at risk for adverse health events. This could include alcohol use despite potentially hazardous or risky consequences, such as operating heavy machinery or drunk driving.|HPO|N|
CN376543|Excessive fear of embarrassment, humiliation, or rejection when exposed to possible negative evaluation by others when engaged in a public performance or social interaction.|HPO|N|
CN376544|Flat affect and reduced response to emotional stimuli. Fear and anger responses that are normally present are blunted.|HPO|N|
CN376545|Hearing one's own voice resonating loudly in the ear.|HPO|N|
CN376546|A history of being at high altitude in situations such hiking, mountain climbing, travel to mountains, or air travel.|HPO|N|
CN376547|A past medical histry of recently being hospitalized.|HPO|N|
CN376548|Cessation of palpitations can be induced by Valsava maneuver.|HPO|N|
CN376549|The activity of aromatic L-amino acid decarboxylase (also known as DOPA decarboxylase, tryptophan decarboxylase, and 5-hydroxytryptophan decarboxylase) in the blood circulation is below the lower limit of normal.|HPO|N|
CN376550|Abnormal narrowing of the subclavian artery.|HPO|N|
CN376551|Cardiac synchronous pulsation on palpation.|HPO|N|
CN376553|A history of repeated exposure to cold water, as may result, for instance, from surfing, diving, kayaking, or swimming.|HPO|N|
CN376554|Tinnitus (sound heard by a subjhect when no corresponding external sound is present) that is made worse by swallowing.|HPO|N|
CN376555|Regularly occuring motion of the tympanic membrane (eardrum), which is located between the inner and middle ear. This can be a manifestation of tensor tympani myoclonus, which can also be ascertained as sawtooth patterns on long-term tympanometry.|HPO|N|
CN376556|The length of the temporal styloid process is above the upper limit of normal. The styloid process is a cylindrical, slender, needle-like projection of varying lengths averaging 2 to 3 cm. The styloid process projects from the inferior part of the petrous temporal bone and offers attachment to the stylohyoid ligament and the stylohyoid, stylopharyngeus, and styloglossus muscles.|HPO|N|
CN376557|Applies to a sign or symptom that is improved or made more bearable by treatment with nitroglycerin.|HPO|N|
CN376559|Chest pain can be induced by palpation of the chest, which may be an indication of costochondritis.|HPO|N|
CN376560|Discomfort in the chest described as pressure, heaviness, or tightness.|HPO|N|
CN376561|Chest pain described as a tearing or ripping sensation.|HPO|N|
CN376562|Applies to a sign or symptom that is improved or made more bearable by bending (flexing) a joint.|HPO|N|
CN376563|Applies to a finding that is situated or occurring around the thorax (chest).|HPO|N|
CN376564|Applies to a finding that is situated or occurring in or on the penis.|HPO|N|
CN376565|A sonographic snowstorm pattern of the uterusresults from the presence of a complex vesicular intrauterine mass containing many grape-like cysts.|HPO|N|
CN376566|History of multiple previous births.|HPO|N|
CN376567|History of exposure to aquatic animals.|HPO|N|
CN376568|Multiple, oblong, fatty lesions in the superficial subcutaneous fatty tissue. They are mostly under 2 cm in long axis diameter. They demonstrate nodular (blush-like) increased fluid signal at unenhanced MRI and are markedly hyperechoic at ultrasound.|HPO|N|
CN376569|Presence of giant cells in the dermis. Giant cells are formed by fusion of various cells such as macrophage, epithelioid cells, monocytes, etc., These are multi-nucleated, large in size, and generally present at the site of chronic inflammation and other granulomatous conditions.|HPO|N|
CN376570|Applies to an eyelid lesion such as hemangiomas or varices that swells upon crying.|HPO|N|
CN376571|Applies to an abnormality that is situated in the upper eyelid.|HPO|N|
CN376572|Repetitive air swallowing and belching and that may result in abdominal distention.|HPO|N|
CN376573|Passage from the vagina of hyatidiform tissue, appearing as clusters of vesicles (similar to small grapes) developed from the transformation of chorionic villi. This is a manifestation of a molar pregnancy (hyatidiform mole).|HPO|N|
CN376574|Abnormal fluid that seeps out of the nipple of the breast. Nipple discharge is categozied as lactational, physiologic, or pathologic.|HPO|N|
CN376575|The presence of gallstones within the intrahepatic bile ducts proximal to the right and left hepatic ducts.|HPO|N|
CN376576|Abnormally frequent belching (expelling gas noisily from the stomach through the mouth).|HPO|N|
CN376577|Fibrosis located in the subepithelial portion of the esophagus. Fibrosisis is defined by the overgrowth, hardening, and/or scarring of various tissues and is attributed to excess deposition of extracellular matrix components including collagen.|HPO|N|
CN376578|This term refers to pain that is triggered by extending (straightening) the leg.|HPO|N|
CN376579|Amount of pyrophosphate uptake by the myocardium as demonstrated by by technetium pyrophosphate (99mTc-PYP) scintigraphy above the upper limit of normal.|HPO|N|
CN376580|Refers to a sign or symptom that is improved or made more bearable by anesthetic block of a nerve.|HPO|N|
CN376581|Tear film break up time (number of seconds that elapse between the last blink and the appearance of the first dry spot in the tear film) below the lower limit of normal.|HPO|N|
CN376582|A granuloma localized to the skin, that is, a chronic inflammatory manifestation with localized aggregation of histiocytes with or without other inflammatory cells (such as plasma cells, eosinophils, or neutrophils), with or without necrosis, with or without vasculitis, with or without calcification, and with or without foreign bodies. Granulomas may be due to infection or chronic inflammatory disease or reactions to foreign material.|HPO|N|
CN376583|Formation of abnormal, extraskeletal bony tissue in the dermis (i.e., the layer of skin that lies beneath the epidermis and above the subcutaneous layer).|HPO|N|
CN376586|A myxoma (benign, locally infiltrative neoplasms arising from mesenchymal origin) localized to the pharynx.|HPO|N|
CN376587|Fibrin thrombi inside subcutaneous arterioles.|HPO|N|
CN376589|Accumulation of abnormally high amounts of iron in beta cells of the pancreas.|HPO|N|
CN376590|A hamartoma (tissue malformation consisting of an abnormal mixture of constitutive components) originating in the nose.|HPO|N|
CN376591|Accumulation of metachromatically staining lipid material in neurons. This finding is typically ascertained in a peripheral nerve.|HPO|N|
CN376592|Acitivity of phosphoserine phosphatase below the lower limit of normal in cultured fibroblasts.|HPO|N|
CN376593|Acitivity of alpha-aminoadipic semialdehyde synthase below the lower limit of normal in cultured fibroblasts.|HPO|N|
CN376594|Activity of beta-ureidopropionase in the liver below the lower limit of normal.|HPO|N|
CN376595|Activity of dihydropyrimidinase in the liver below the lower limit of normal.|HPO|N|
CN376597|Abnormally increased curvature of the penis.|HPO|N|
CN376598|A past medical history of a procedure or catheterization involving the urethra.|HPO|N|
CN376600|Activity of the enzyme alpha-1,4-glucosidase activity in muscle tissue is below the lower limit of normal.|HPO|N|
CN376601|A brown tumor is a bone lesion that results from bony resorption by excess osteoclastic activity, and replacement by fibrous tissue and giant cells. Brown tumor is an uncommon pathognomonic sign of hyperparathyroidism.|HPO|N|
CN376602|Flame-figures are composed of a central part consisting of collagen fibers and eosinophilic granules, surrounded by a histiocytic and eosinophilic infiltrate. Subsequently, eosinophils tend to disappear and are replaced by phagocytic granulomas, consisting of histiocytes and sometimes giant cells, around the flame figures.|HPO|N|
CN376603|Applied to a sign or symptom that is present during pregnancy and becomes worse following birth.|HPO|N|
CN376604|History of having taken retinoids.|HPO|N|
CN376605|History of having been treated with propylthiouracil.|HPO|N|
CN376606|History of spending a substantial amount of time outdoors with occupation or hobbies related to the outdoors, including hunting, gardening, farming, agriculture, horticulture, miners, working in wet fields.|HPO|N|
CN376607|A sinus tract is an abnormal channel that originates from the skin or a mucous surface to a deep-seated focus of suppuration.|HPO|N|
CN376608|Past medical history of surgical replacement of the cornea with corneal tissue from a donor.|HPO|N|
CN376609|Breakage of the capsule of the lens. This is most often observed as a complication of lens surgery, but this term refers to lens capsule rupture not related to surgery or major trauma.|HPO|N|
CN376610|A past medical history of wearing contact lenses.|HPO|N|
CN376611|Increase in thickness of the mucosa of the airways above the upper limit of normal.|HPO|N|
CN376612|Increased (more negative) voltage across the nasal epithelium.|HPO|N|
CN376613|An adhesion between the conjunctiva of the eyelid and the cornea.|HPO|N|
CN376614|Precipitous labor is extremely rapid labor and delivery, usually defined as expulsion of the fetus within less than 3 hours of commencement of regular contractions.|HPO|N|
CN376616|Pain that is elicited by palpation of the region inside of the costovertebral angle, which is formed by the 12th rib and the spine.|HPO|N|
CN376617|Pain that is elicited by moving the uterine cervix. This finding can be ascertained by pelvic exam. Cervical motion tenderness is a gynecological exam finding that could be indicative of peritoneal infection.|HPO|N|
CN376618|Fluid that originates from the urethra that is not urine, pre-ejaculate or semen.|HPO|N|
CN376619|The presence of an extra digital crease in and individual with normal joint anatomy.|HPO|N|
CN376620|Refers to a phenotypic abnormality that mainly affect large joints.|HPO|N|
CN376621|Refers to a phenotypic abnormality that affects a single joint.|HPO|N|
CN376622|An abnormality of the upper palmar crease whereby the crease widens and ends between the second and third fingers and is said to resemble a hockey stick.|HPO|N|
CN376623|The amount of succinyladenosine in the urine, normalized for urine concentration, is above the upper limit of normal.|HPO|N|
CN376624|The amount of 5-hydroxymethyluracil in the urine, normalized for urine concentration, is above the upper limit of normal.|HPO|N|
CN376625|The amount of creatinine in the urine, normalized for urine concentration, is below the lower limit of normal.|HPO|N|
CN376626|The amount of deoxyuridine in the urine, normalized for urine concentration, is above the upper limit of normal.|HPO|N|
CN376627|The amount of dihydrouracil in the urine, normalized for urine concentration, is above the upper limit of normal.|HPO|N|
CN376628|The amount of dihydrothymine in the urine, normalized for urine concentration, is above the upper limit of normal.|HPO|N|
CN376629|The amount of sulfatides in the urine, normalized for urine concentration, is above the upper limit of normal. Sulfatides are derived from GalCer via esterification of a sulfate group to 3-hydroxyl of the galactose moiety.|HPO|N|
CN376630|The amount of xanthurenic acid in the urine, normalized for urine concentration, is above the upper limit of normal.|HPO|N|
CN376631|Presence of N-acetylglucosamine-rich oligosaccharides in the urine.|HPO|N|
CN376632|The amount of 2'-deoxyadenosine (dAdo) in the urine, normalized for urine concentration, is above the upper limit of normal.|HPO|N|
CN376633|Positive (abnormal) result of the 2,4-dinitrophenylhydrazine urine test, which indicates the presence of alpha-ketoacids in the urine.|HPO|N|
CN376634|The amount of dolichol in the urine, normalized for urine concentration, is above the upper limit of normal.|HPO|N|
CN376635|The amount of bile acids in the urine, normalized for urine concentration, is below the lower limit of normal.|HPO|N|
CN376636|The ratio of creatine to creatinine concentration in the urine is above the upper limit of normal.|HPO|N|
CN376637|The amount of thymidine in the urine, normalized for urine concentration, is below the lower limit of normal.|HPO|N|
CN376638|The amount of glutarylglycine in the urine, normalized for urine concentration, is below the lower limit of normal.|HPO|N|
CN376639|Detection of indican in the urine. Urinary indican concentration may be elevated in small bowel bacterial overgrowth. Indican is produced by bacterial deconjugation of dietary tryptophan to indole which is absorbed at all levels of the intestine, but principally from the small bowel.|HPO|N|
CN376640|Dacryolith is a concretion (accumulation of sediment) within the nasolacrimal system.|HPO|N|
CN376641|Activity of gamma-glutamylcysteine synthetase (EC 6.3.2.2) in erythrocytes below the lower limit of normal.|HPO|N|
CN376642|The activity of nicotinamide adenine dinucleotide (NADH)-cytochrome b5 reductase in the blood circulation is below the lower limit of normal.|HPO|N|
CN376643|Activity of alpha-methylacyl-CoA racemase (AMACR; EC 5.1.99.4) below the lower limit of normal in cultured fibroblasts.|HPO|N|
CN376645|Applies to an abnormality that is situated in (or predominant in) the elbow.|HPO|N|
CN376646|Abnormal enlargement of the visible portion of the distal nail matrix that extends beyond the proximal nail fold, which is refered to as the lunula.|HPO|N|
CN376647|Applies to an abnormality that is situated in (or predominant in) the heel.|HPO|N|
CN376648|Thin, red to reddish-brown lines of blood (hemorrhages) under the nails. Splinter hemorrhages run vertically under the nails.|HPO|N|
CN376649|Lateral thrust (LT) refers to an abnormal knee joint motion in the early stance phase where the knee joint center moves laterally. Also known as varus thrust, LR is defined as the dynamic worsening or abrupt onset of varus (bow-leg) alignment as the limb accepts weight (stance phase), with a return to less varus and more neutral alignment during lift-off and the non-weight-bearing (swing) phase of gait, varus thrust is a potent mechanical risk factor for medial knee osteoarthritis progression.|HPO|N|
CN376650|A contusion is a region of injured tissue in which blood capillaries have been ruptured without laceration (bruise). Brain contusions are bruises of the cortical surface that damage the surface from the outside inward, producing disruption of tissue and vessels. The term cerebral contusion describes the pathology of focal necrosis and hemorrhage, typically observed in older children, involving particularly cerebral cortex and subcortical white matter. Such lesions are usually found in coup and contrecoup, as well as inferior orbital, frontal, and temporal locations. Cerebral contusions cause permanent damage to tissues of the cerebrum. The etiology of cerebral contusion is trauma to the head.|HPO|N|
CN376651|A mass of accumulated hardened fecal matter.|HPO|N|
CN376653|An abnormal form of the heart seen upon chest radiography in which the heart displays an upturned apex and slight concave pulmonary artery segment. This configuration is said to resemble a boot.|HPO|N|
CN376654|An increase in the level of 3-methylhex-2,4-dienedioic acid or 3-methylhex-3,4-dienedioic acid in the brain identified by magnetic resonance spectroscopy (MRS).|HPO|N|
CN376655|Increased signal (contrast enhancement) surrounding the liver observed on computer tomography or magnetic resonance imaging following administration of contrast agents.|HPO|N|
CN376656|The in vitro contracture test determines the sensitivity of freshly obtained skeletal muscle specimens to caffeine or halothane applied to a bathing solution. Muscles from persons susceptible to malignant hyperthermia have lower contracture thresholds for these agents than do normal muscle.|HPO|N|
CN376657|Reduced strength (amplitude) of the F-wave, which is an electrophysiological artifact produced by antidromic activation of motoneurons following distal electrical stimulation of motor nerve fibers.|HPO|N|
CN376658|Abnormal increase in size of peroxisomes.|HPO|N|
CN376666|Accumulation of lymphocytes in the parotid gland. This feature is generally defined as a count of lymphocytes per area that is above normal limits on histopathological examination.|HPO|N|
CN376667|A granuloma (a focal aggregate of immune cells that forms in response to a persistent inflammatory stimulus) localiyed to the bone marrow. A granuloma characteristically demonstrates the compact organization of mature macrophages, which may or may not be associated with other inflammatory cell types.|HPO|N|
CN376668|The presence of intracellular inclusion bodies (aggregates of stainable substances, usually proteins) in neurons.|HPO|N|
CN376669|Wasting (shrinking) of the pancreas.|HPO|N|
CN376670|Number (count) of pancreatic acinar cells reduced below normal. This feature can be ascertained by pancreas biopsy.|HPO|N|
CN376671|An abnormal result of the the filipin test. In this test is based on the reaction of unesterified cholesterol with fluorescent antibiotic filipin giving a strongly fluorescent, stable cholesterol-filipin complex suitable for in situ detection. An abnormal test result is present if there is a perinuclear accumulation of staining in lysosomal storage organelles (LSOs).|HPO|N|
CN376672|Accumulation of foamy cells (lipid-laden macrophages) in the parenchyma of the liver.|HPO|N|
CN376673|Accumulation of foamy cells (lipid-laden macrophages) in the parenchyma of the spleen.|HPO|N|
CN376674|Concentration or activity of N-acetylglutamate synthase in liver tissue below the lower limit of normal.|HPO|N|
CN376675|Ingestion of large amounts of licorice.|HPO|N|
CN376676|Applies to an abnormality that is situated in (or predominant in) the shoulder.|HPO|N|
CN376677|Intrauterine devices (IUDs) are used for contraception. Rarely pregnancy occurs despite the presence of an IUD. Such pregnancies are associated with an increased risk of spontaneous abortion and preterm delivery due to infection, and a higher risk of maternal septic complications.|HPO|N|
CN376678|The mother of a fetus or index patient has a history of folate deficiency during the corresponding pregnancy.|HPO|N|
CN376679|The mother of a fetus or index patient has a history of abnormally low zinc levels during the corresponding pregnancy.|HPO|N|
CN376680|Intrauterine devices (IUD) are commonly used for contraception. IUD complications are rare, but include perforation, pelvic infection, expulsion, missing strings, and difficult IUD removal.|HPO|N|
CN376681|A past medical history of a recent central venous catheter (CVC). A CVC is an indwelling device inserted into a large, central vein (most commonly the internal jugular, subclavian, or femoral) and advanced until the terminal lumen resides within the inferior vena cava, superior vena cava, or right atrium. CVCs can be a necessary producre for critically ill patients with indications such as total parenteral nutrition administration, dialysis, plasmapheresis, medication administration, and hemodynamic monitoring, and to facilitate further complex interventions such as transvenous pacemaker placement. Complications include arrhythmia, central vein stenosis, and sepsis.|HPO|N|
CN376682|A past medical history of a recent depence on total parenteral nutrition (TPN), which refers to intravenously administered nutrition being the only source of nutrition the patient is receiving.|HPO|N|
CN376683|This refers to testicular pain that is lessened or made more bearable by elevation of the testicle.|HPO|N|
CN376684|An abnormal enlargement or swelling localized to the abdominal wall (the skin, fascia, and muscle encases the abdominal cavity and viscera). The word mass is usually used at an early stage of the diagnostic workup before the precise nature of the swelling has been determined.|HPO|N|
CN376685|The tympanic membrane protrudes (swells outwards). This feature may be observed with otoscopy.|HPO|N|
CN376686|Applies to pain of the ear that is worsened, aggravated, or exacerbated by touching or moving the tragus or pinna.|HPO|N|
CN376687|An abnormal enlargement or swelling localized to the side of the neck. The word mass is usually used at an early stage of the diagnostic workup before the precise nature of the swelling has been determined.|HPO|N|
CN376688|Applies to an abnormality that is situated in the occiput (back part of the head).|HPO|N|
CN376689|Abormal enlargement of the front part of the neck owing to accumulation of fluid.|HPO|N|
CN376690|Abnormal enlargement of the uvula related to an abnormal accumulation of fluid.|HPO|N|
CN376691|Flow of pus (purulence) from the Stensen duct. The Stensen duct is also known as the parotid duct and is the route that saliva takes from the major salivary gland (parotid gland) to the mouth.|HPO|N|
CN376692|History of having received gastric bypass surgery. This is a procedure that reduces the functional volume of the stomach and is used to treat morbid obesity.|HPO|N|
CN376693|Applies to a sign or symptom that is provoked or brought about by exposure to volatile organic compounds (VOCs), which comprise various organic chemicals which are released as gases from different liquids or solids.|HPO|N|
CN376697|Filum terminale lipomas (FTLs) are a type of lumbosacral lipoma in which the fat is entirely within the filum terminale and separate from the conus medullaris.|HPO|N|
CN376699|The presence of autoantibodies (immunoglobulins) in the blood circulation that react against soluble liver antigen.|HPO|N|
CN376700|The presence of autoantibodies (immunoglobulins) in the blood circulation that react against thrombospondin type I domain-containing 7A.|HPO|N|
CN376701|The presence of autoantibodies (immunoglobulins) in the serum that react against sperm antigens.|HPO|N|
CN376702|Concentration of ficolin 3 in the blood circulation below the lower limit of normal.|HPO|N|
CN376703|A structural abnormality of the seminal vesicle. The seminal vesicles are a pair of glands that also include the prostate gland and the bulbourethral glands and are located in the pelvis superior to the rectum, inferior to the fundus of the bladder and posterior to the prostate. The seminal vesicles contribute around 70% of the fluid that will eventually become semen.|HPO|N|
CN376704|A cyst (sac-like mass that may contain serous liquid or semisolid material) caused by distention of the seminal vesicle due to atresia of the ejaculatory duct.|HPO|N|
CN376705|History of exposure to respirable crystalline silica (SiO2).|HPO|N|
CN376706|The presence of autoantibodies (immunoglobulins) in the blood circulation that react against osteoprotegerin.|HPO|N|
CN376708|Activity of the enzyme mitochondrial citrate synthase (EC:2.3.3.1) in muscle tissue is above the upper limit of normal.|HPO|N|
CN376709|Activity of the enzyme lactate dehdrogenase (LHD; 1.1.1.27) in muscle tissue is below the lower limit of normal. LDH catalyzes the conversion of pyruvate to lactate and back, as it converts NAD+ to NADH and back.|HPO|N|
CN376710|Activity of the enzyme Phosphoglycerate mutase (PGM) in muscle tissue is below the lower limit of normal. PGM is an enzyme that catalyzes step 8 of glycolysis (EC 5.4.2.11).|HPO|N|
CN376711|Activity of the enzyme muscle phosphorylase kinase (PhK) in muscle tissue below the lower limit of normal.|HPO|N|
CN376712|Acitivity of 3-beta-hydroxysteroid-delta-5-desaturase, also known as Sterol C5-desaturase (EC 1.3.3.2), or SC5D below the lower limit of normal in cultured fibroblasts.|HPO|N|
CN376713|Activity of glucose-6-phosphatase (EC 3.1.3.9) in the liver below the lower limit of normal.|HPO|N|
CN376714|Activity of glucose-6-phosphate translocase in liver below the lower limit of normal.|HPO|N|
CN376715|The presence of red blood cells (RBCs) in the cerebrospinal fluid (CSF). The CSF normally does not contain RBCs (erythrocytes).|HPO|N|
CN376716|The concentration of cholestanol in the cerebrospinal fluid (CSF) is above the upper limit of normal. Cholestanol is the 5-alpha-dihydro derivative of cholesterol.|HPO|N|
CN376717|The concentration of apolipoprotein B in the cerebrospinal fluid (CSF) is above the upper limit of normal.|HPO|N|
CN376718|The concentration of myelin basic protein in the cerebrospinal fluid (CSF) is above the upper limit of normal.|HPO|N|
CN376719|The concentration of pyridoxal-5'-phosphate in the cerebrospinal fluid (CSF) is below the lower limit of normal.|HPO|N|
CN376720|The concentration of thymine in the cerebrospinal fluid (CSF) is above the upper limit of normal.|HPO|N|
CN376721|The concentration of 5-hydroxymethyluracil in the cerebrospinal fluid (CSF) is above the upper limit of normal.|HPO|N|
CN376722|The concentration of N-carbamyl-beta-aminoisobutyric acid in the cerebrospinal fluid (CSF) is above the upper limit of normal.|HPO|N|
CN376723|The concentration of N-carbamyl-beta-alanine in the cerebrospinal fluid is above the upper limit of normal.|HPO|N|
CN376724|The concentration of dihydrouracil in the cerebrospinal fluid (CSF) is above the upper limit of normal.|HPO|N|
CN376725|The concentration of dihydrothymine in the cerebrospinal fluid is above the upper limit of normal.|HPO|N|
CN376726|Concentration of angiotensin-converting enzyme (ACE) in the blood circulation above the upper limit of normal.|HPO|N|
CN376727|The activity of 3-hydroxyisobutyrate dehydrogenase in the blood circulation is below the lower limit of normal.|HPO|N|
CN376728|The activity of 3-hydroxyisobutyryl-CoA hydrolase in the blood corculation is below the lower limit of normal.|HPO|N|
CN376729|Acitivity of 3-hydroxy-3-methylglutaryl coenzyme A lyase (HMG CoA lyase) below the lower limit of normal in cultured fibroblasts.|HPO|N|
CN376730|The activity of acyl-CoA oxidase activity in the blood circulation is below the lower limit of normal.|HPO|N|
CN376731|Activity of the enzyme xanthine oxidase below the lower limit of normal.|HPO|N|
CN376732|The activity of methylmalonate semialdehyde dehydrogenase ( EC 1.2.1.27) in cultured fibroblasts is below the lower limit of normal.|HPO|N|
CN376733|An abnormal enlargement or swelling localized to the pharynx (i.e., the throat, the space that connects the nose and mouth to the larynx and esophagus). The word mass is usually used at an early stage of the diagnostic workup before the precise nature of the swelling has been determined.|HPO|N|
CN376734|The presence of hidden (occult) blood in the stool.|HPO|N|
CN376735|An unpleasant sensation characterized by physical discomfort that occurs when passing stool.|HPO|N|
CN376736|Medical history of a recent ingestion of a caustic substance, i.e., a highly acidic or alkaline chemicals that can cause severe burns to the mouth and digestive tract when swallowed.|HPO|N|
CN376738|The second sound can remain single throughout the respiratory cycle due to either absence of one component or to synchronous occurrence of the two components. Since the pulmonary vascular impedance increases with age, many normal patients over age 50 have a single S2 or at most a narrow physiologic split on inspiration because P2 occurs early. A single second sound, however, is usually due to inability to auscultate a relatively soft pulmonic component. Such inability is rare in healthy infants, children, and young adults and is uncommon even in older persons under good auscultatory conditions using a rigid stethoscopic diaphragm.|HPO|N|
CN376739|The gradient (in this case, drop) in pressure across the aortic valve is above the upper limit of normal.|HPO|N|
CN376740|A past surgical history of the implanation of an artificial heart valve.|HPO|N|
CN376741|Hyperoxia test is the initial method to distinguish critical congenital heart disease (CCHD) from pulmonary disease. The test consists in measuring an arterial blood gas at room air and 100% inspired oxygen after 10 minutes. Neonates with congenital heart disease are usually not able to increase PaO2 above 100 mm Hg during 100% oxygen administration. In patients with pulmonary disease, PaO2 generally increased greater than or equal to 100 mm Hg with 100% oxygen as ventilation-perfusion discrepancies are overcome. A positive result indicates the cardiac origin and further cardiac workup is indicated to rule out CCHD.|HPO|N|
CN376742|Placement of the nipples at a higher than normal location.|HPO|N|
CN376743|The amount of calveolin-3 in muscle tissue is below the lower limit of normal.|HPO|N|
CN376744|Concentration of an enyzme in a tissue is above or between the limit of normal. This term is intended to be used for enzymes that can be measured in multiple tissues other than blood.|HPO|N|
CN376745|Cell dealth (necrosis) located in the spleen.|HPO|N|
CN376746|A carcinoid tumor of the pancreas (CTP) is a rare neuroendocrine tumor arising from the serotonin-secreting cells (enterochromaffin or Kultscitsky's cells).|HPO|N|
CN376747|The concentration of dihydroxyphenylacetic acid in the blood circulation is above the upper limit of normal.|HPO|N|
CN376748|Lower than appropriate concentration of acetoacetate in states such as hypoglycemia in which the normal response would be to elevate acetoacetate.|HPO|N|
CN376749|Lower than appropriate concentration of beta-hydroxybutyrate in states such as hypoglycemia in which the normal response would be to elevate acetoacetate.|HPO|N|
CN376750|Concentration of 3-hydroxybutyryl-carnitine in the blood circulation above the upper limit of normal.|HPO|N|
CN376751|The concentration of 5-amino-4-imidazolecarboxyamide in the cerebrospinal fluid (CSF) is above the upper limit of normal.|HPO|N|
CN376752|The concentration of tumor necrosis factor alpha in the blood circulation is above the upper limit of normal.|HPO|N|
CN376753|The activity of concentration of pyrimidine 5-prime-nucleotidase (EC 3.1.3.5) in the blood circulation is below the lower limit of normal.|HPO|N|
CN376754|The increase in prolactin concentration (PRL) following stimulation with thyrotropin (thyrdoid releasing hormone) as compared to baseline PRL concentration is below the lower limit of normal.|HPO|N|
CN376755|The concentration of complement component 1s (C1s) in the blood circulation is below the lower limit of normal.|HPO|N|
CN376756|The concentration of cortisol-binding globulin in the blood circulation is below the lower limit of normal.|HPO|N|
CN376757|The concentration of thyroglobulin in the blood circulation is below the lower limit of normal.|HPO|N|
CN376758|The concentration of granulocyte-macrophage colony-stimulating factor (GM-CSF) in the blood circulation is above the upper limit of normal.|HPO|N|
CN376759|The concentration of D-2-hydroxyglutaric acid in the cerebrospinal fluid (CSF) is above the upper limit of normal.|HPO|N|
CN376761|The presence of crystals (microscopic solids that form distinct lattices, with definable fixed angles, faces, walls) in the joint (synovial) fluid.|HPO|N|
CN376762|Giant gastric folds are recognized at endoscopy as an increase in the size of the gastric rugae and a lack of flattening.|HPO|N|
CN376763|The count of lymphocytes located in the epithelial layer of the gastric mucosa is above the upper limit of normal.|HPO|N|
CN376765|Increased response (echo) of lung tissue of a fetus observed on prenatal sonography. Increased echo response is conventially displayed as a higher degree of brightness.|HPO|N|
CN376766|Any structural anomaly of the proximal convoluted tubule, which is the first tubular component of the nephron and arises as a continuation of the Bowman space from the tubular pole of the renal corpuscle. The proximal convoluted tubule is located within the renal cortex.|HPO|N|
CN376767|Presence of Leishmania, a parasitic protozoan, in a tissue specimen. Leishmania is responsible for leishmaniasis.|HPO|N|
CN376768|Demonstration of cysts of Pneumocystis (a genus of related fungal species) in respiratory secretions such as nasopharyngeal secretions or pleural fluid.|HPO|N|
CN376769|An aggregation of macrophages (forming in response to chronic inflammation) localized in or on the spinal cord.|HPO|N|
CN376770|Reduced ability to absorb folate in the diet. This finding can be measured by a folic acid loading test in which blood concentration of folate is measured after oral administration of folic acid.|HPO|N|
CN376771|Abnormally elevated quantiy of hydrogen measured by a hydrogen breath test (HBT). HBTs administer substrates such as glucose, lactulose, lactose and fructose and subsequently measure hydrogen exhaled in the breath using a gas chromatograph.|HPO|N|
CN376772|A history of a plant skin puncture preceding the current presenting condition by hours, days, or weeks.|HPO|N|
CN376773|Nondetectable kappa chain in the blood circulation.|HPO|N|
CN376775|The amount of 3-hydroxykynurenine in the urine, normalized for urine concentration, is above the upper limit of normal.|HPO|N|
CN376777|The concentration of methionine sulfoxide in the blood circulation is above the upper limit of normal.|HPO|N|
CN376778|The concentration of pipecolic acid in the blood circulation is above the upper limit of normal.|HPO|N|
CN376779|The amount of pipecolic acid in the urine, normalized for urine concentration, is above the upper limit of normal.|HPO|N|
CN376780|Concentration of saccharopine in the cerebrospinal fluid (CSF) above the upper limit of normal.|HPO|N|
CN376781|Concentration in the bloodstream of glycylproline above the upper limit of normal. Glycylproline is a dipeptide composed of glycine and proline, and is an end product of collagen metabolism that is further cleaved by prolidase (EC 3.4.13.9).|HPO|N|
CN376782|Concentration of octanoylcarnitine (C8:0) in the blood circulation above the upper limit of normal.|HPO|N|
CN376783|Concentration of decanoylcarnitine (C10:0) in the blood circulation above the upper limit of normal.|HPO|N|
CN376784|Increased concentration of 2-hydroxyphenylacetic acid in the urine.|HPO|N|
CN376785|Autosomal recessive epidermolytic hyperkeratosis-2B (EHK2B) is a rare and clinically variable defect of cornification characterized by generalized erythema, erosions, scaling, and easily breaking blisters that become less frequent later in life, while hyperkeratosis increases (summary by Terheyden et al., 2009).
For a discussion of genetic heterogeneity of epidermolytic hyperkeratosis, see EHK1 (113800).|OMIM|N|
CN376786|Absence of melanin pigment in various areas, which is found at birth and is permanent. The lesions are known as leucoderma and are often found on the face, trunk, or limbs.|HPO|N|
CN376787|Polydactyly-macrocephaly syndrome (PDMCS) is characterized by postaxial polydactyly and progressive macrocephaly. Variable ocular anomalies have been observed, including microphthalmia and coloboma as well as delayed visual maturation. Neurodevelopmental anomalies are also present, including global developmental delay and autism or autistic traits, with prominent perivascular spaces on brain imaging (Harris et al., 2024).|OMIM|N|
CN376794|Any eye disorder in which the cause of the disease is a variant in the PAX6 gene itself or a variant within another locus that results in defective regulation of the PAX6 gene.|MONDO|N|
CN376802|Oculopharyngeal muscular dystrophy-1 (OPMD1) is an autosomal dominant late-onset neuromuscular disease characterized by proximal muscle weakness, ptosis, and swallowing difficulty (summary by Robinson et al., 2006).
Genetic Heterogeneity of Oculopharyngeal Muscular Dystrophy
See also OPMD2 (620460), caused by mutation in the HNRNPA2B1 gene (600124) on chromosome 7p15.|OMIM|N|
CN376809|Craniofacial microsomia-1 (CFM1) is an autosomal dominant disorder characterized by mandibular hypoplasia, microtia, facial and preauricular skin tags, epibulbar dermoids, and lateral oral clefts, in addition to skeletal and cardiac abnormalities. Inter- and intrafamilial variability has been observed (Timberlake et al., 2021).
Hemifacial microsomia is a common birth defect involving the first and second branchial arch derivatives. It typically affects the external ear, middle ear, mandible and temporomandibular joint, muscles of mastication and facial muscles, and other facial soft tissues on the affected side. In some cases, other facial structures, such as the orbit, eye, nose, cranium, or neck, may be involved. Involvement is usually limited to one side, but bilateral involvement is known. In addition to craniofacial anomalies, there may be cardiac, vertebral, and central nervous system defects. The phenotype is highly variable. Most cases are sporadic, but there are rare familial cases that exhibit autosomal dominant inheritance (summary by Poole, 1989 and Hennekam et al., 2010).
Genetic Heterogeneity of Craniofacial Microsomia
CFM2 (620444) is caused by mutation in the FOXI3 gene (612351) on chromosome 2p11.
See also hemifacial microsomia with radial defects (141400) and oculoauriculofrontonasal dysplasia (OAFNS; 601452), which may be part of the OAV spectrum.
Another disorder that overlaps clinically with CFM is Townes-Brocks syndrome (TBS; 107480).
Reviews
Ronde et al. (2023) reviewed the international classification and clinical management strategies for craniofacial microsomia and microtia, and tabulated survey responses from 57 professionals involved in management of CFM patients. The authors noted that although the International Consortium for Health Outcomes Measurement (ICHOM) criteria for CFM exclude isolated microtia from the phenotypic spectrum of CFM, the question of whether isolated microtia can be considered the mildest form of CFM is debated in the literature. No consensus was reached in their survey, as a majority of respondents agreed with the ICHOM criteria but also considered isolated microtia to be a mild form of CFM. In addition, the authors noted that although vertebral, cardiac, and renal anomalies have been reported in CFM patients, there was no consensus on screening for such extracraniofacial anomalies.|OMIM|N|
CN376811|Autosomal recessive Leber-like hereditary optic neuropathy-1 (LHONAR1) is characterized by bilateral synchronous or asynchronous vision loss with variable recovery of visual acuity. The visual field defect is typically in the central visual field. The disorder shows incomplete penetrance and male predominance (Stenton et al., 2021).
Genetic Heterogeneity of Autosomal Recessive Leber-like Hereditary Optic Neuropathy
See also LHONAR2 (620529), caused by mutation in the NDUFS2 gene (602985) on chromosome 1q23.|OMIM|N|
CN376814|An instance of granular cell tumor that is present from birth.|MONDO|N|
CN376816|A benign neoplasm characterized by the presence of cystic structures lined by serous epithelial cells in a fibrotic stroma. Most commonly the primary site is the ovary, but serous cystadenofibromas can occur in the pancreas as well.|MONDO|N|
CN376829|Disorders of the autonomic nervous system occurring as a primary condition. Manifestations can involve any or all body systems but commonly affect the blood pressure and heart rate.|MONDO|N|
CN376838|Orofaciodigital syndrome-20 (OFD20) is characterized by bilateral oral clefting, polydactyly/syndactyly, cerebral malformations, cardiac defects, anorectal anomalies, and shortening of the long bones (Bruel et al., 2023).
For a general phenotypic description and discussion of genetic heterogeneity of OFD, see OFD1 (311200).|OMIM|N|
CN376839|Vascular-type bleeding disorder (BDVAS) is an autosomal dominant condition characterized by spontaneous episodic bleeding usually beginning in childhood. Features include epistaxis, oral cavity bleeding, menorrhagia, and excessive bleeding during surgery or childbirth. Platelet function is normal and platelet transfusion does not alleviate the bleeding (Stritt et al., 2023).|OMIM|N|
CN376840|Autosomal recessive deafness-122 (DFNB122) is characterized by postnatal onset of nonsyndromic sensorineural hearing loss leading to deafness by the second or third decade. The severity is variable, first affecting high frequencies, with progression to deficits in all frequencies. Noise exposure may contribute to faster progression and more severe hearing loss (Li et al., 2023).|OMIM|N|
CN376841|Autosomal dominant deafness-90 (DFNA90) is a nonsyndromic form of bilateral progressive sensorineural hearing loss, which is mild to severe and affects all frequencies (summary by Dantas et al., 2018).|OMIM|N|
CN376852|Porphyria-related encephalopathy (ENCEP) is an autosomal recessive disorder characterized by the onset of progressive neurologic abnormalities in early infancy. Features include global developmental delay, poor walking or inability to walk, impaired intellectual development, hypotonia, ataxia, dysarthria, spasticity, ocular abnormalities, and peripheral neuropathy. The disease course is usually rapidly progressive and may lead to death in childhood. Laboratory studies show increased plasma and urinary levels of the putatively neurotoxic porphyrin precursors delta-aminolevulinic acid (ALA), porphobilinogen (PBG), and uroporphyrin resulting from deficient HMBS enzymatic activity (Solis et al., 2004).|OMIM|N|
CN376853|Porphyria-associated leukoencephalopathy (LENCEP) is an autosomal recessive disorder characterized by the onset of variable and slowly progressive neurologic abnormalities in childhood or adolescence with survival to late adulthood. Features include spastic paraparesis, cerebellar ataxia, peripheral axonal neuropathy, ocular abnormalities, and leukoencephalopathy affecting the deep cerebral white matter on brain imaging. Some individuals have more severe manifestations, such as optic atrophy with progressive visual loss, loss of ambulation, and mild cognitive decline. Laboratory studies show variably increased plasma and urinary levels of delta-aminolevulinic acid (ALA), porphobilinogen (PBG), and uroporphyrin due to decreased HMBS enzyme activity. The severity of the disorder appears to depend on the particular genotype and the variant effects on HMBS enzymatic activity; intrafamilial variability is often observed. The clinical discrepancies may be particularly apparent in individuals with compound heterozygous HMBS variants that have different effects on enzyme function (Stutterd et al., 2021).|OMIM|N|
CN376896|Ullrich congenital muscular dystrophy-1 (UCMD1) is characterized by generalized muscle weakness and striking hypermobility of distal joints in conjunction with variable contractures of more proximal joints and normal intelligence. Additional findings may include kyphoscoliosis, protruded calcanei, and follicular hyperkeratosis. Some patients manifest at birth and never achieve independent ambulation, whereas others maintain ambulation into adulthood. Progressive scoliosis and deterioration of respiratory function is a typical feature (summary by Kirschner, 2013).
For general phenotypic information and a discussion of genetic heterogeneity of Ullrich congenital muscular dystrophy, see UCMD1A (254090).|OMIM|N|
CN376897|Ullrich congenital muscular dystrophy-1 (UCMD1) is characterized by generalized muscle weakness and striking hypermobility of distal joints in conjunction with variable contractures of more proximal joints and normal intelligence. Additional findings may include kyphoscoliosis, protruded calcanei, and follicular hyperkeratosis. Some patients manifest at birth and never achieve independent ambulation, whereas others maintain ambulation into adulthood. Progressive scoliosis and deterioration of respiratory function is a typical feature (summary by Kirschner, 2013).
For general phenotypic information and a discussion of genetic heterogeneity of Ullrich congenital muscular dystrophy, see UCMD1A (254090).|OMIM|N|
CN376898|Hyperemesis gravidarum (HG) is characterized by severe nausea and vomiting in pregnancy. It occurs in up to 2% of pregnancies and results in significant weight loss, dehydration, electrolyte imbalance, and ketonuria. It is associated with both maternal and fetal morbidity (Fejzo et al., 2019).|OMIM|N|
CN376899|Microphthalmia/coloboma-11 (MCOPCB11) is characterized by ocular coloboma and related phenotypes such as inferior chorioretinal hypoplasia and/or optic disc hypoplasia, with occasional microphthalmia or high myopia. Incomplete penetrance as well as intrafamilial and intraindividual phenotypic variability have been observed (Liu et al., 2016; Aubert-Mucca et al., 2021; Jiang et al., 2021; Holt et al., 2022).
For a discussion of genetic heterogeneity of colobomatous microphthalmia, see MCOPCB1 (300345).|OMIM|N|
CN376901|Neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism (NEDMSF) is characterized by global developmental delay, poor overall growth, early-onset seizures (in most patients), severely impaired motor development with hypotonia and/or ataxia, and dysmorphic facial features. Affected individuals have impaired intellectual development, which can be severe. Brain imaging may show thin corpus callosum, enlarged ventricles, or cerebellar atrophy (Gennarino et al., 2018; Voet et al., 2020).|OMIM|N|
CN376902|Bethlem myopathy-1 (BTHLM1) is a congenital muscular dystrophy characterized by distal joint laxity and a combination of distal and proximal joint contractures. Weakness usually begins in mid-childhood or adolescence, but progression is slow and ambulation is usually retained into adulthood (summary by Butterfield et al., 2013).
For a discussion of genetic heterogeneity of Bethlem myopathy, see BTHLM1A (158810).|OMIM|N|
CN376903|Bethlem myopathy-1 (BTHLM1) is a congenital muscular dystrophy characterized by distal joint laxity and a combination of distal and proximal joint contractures. Weakness usually begins in mid-childhood or adolescence, but progression is slow and ambulation is retained into adulthood (summary by Butterfield et al., 2013).
For general phenotypic information and a discussion of genetic heterogeneity of Bethlem myopathy, see BTHLM1A (158810).|OMIM|N|
CN376904|Hyperferritinemia (HRFT) is an autosomal recessive condition characterized by increased serum ferritin levels in the absence of iron overload or other clinical symptoms (Monfrini et al., 2023).|OMIM|N|
CN376925|Familial atrial hypertrophic cardiomyopathy-30 (CMH30) is characterized by atrial arrhythmias, including flutter and fibrillation, atrial structural abnormalities with hypertrophic cardiomyopathy and fibrosis, and hypertension (Baris Feldman et al., 2023).|OMIM|N|
CN376932|Neurodevelopmental disorder with hyperkinetic movements, seizures, and structural brain abnormalities (NEDMSB) is a severe autosomal recessive disorder characterized by failure to thrive in infancy, global developmental delay, hypotonia, motor abnormalities with inability to walk, involuntary movements, impaired intellectual development, absent speech, seizures, and structural brain abnormalities (Alkhater et al., 2018; Dafsari et al., 2022).|OMIM|N|
CN376944|Spermatogenic failure-90 (SPGF90) is characterized by male infertility due to asthenozoospermia, in which progressive motility of sperm is markedly reduced. This form of infertility can be rescued by intracytoplasmic sperm injection (ICSI) (Liu et al., 2023).
For a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).|OMIM|N|
CN376945|Either an isolated neoplasm or a syndrome with neoplasm as a major feature.|MONDO|N|
CN376946|A disease that has its basis in the disruption of the heart's electrical conduction system.|MONDO|N|
CN376947|A disease that has its basis in the disruption of porphyrin-containing compound metabolic process.|MONDO|N|
CN376948|Autosomal recessive deafness-123 (DFNB123) is characterized by nonsyndromic bilateral severe to profound hearing impairment, with onset as early as the first decade of life (Schrauwen et al., 2023).|OMIM|N|
CN376952|Concentration or activity of medium-chain acyl-CoA dehydrogenase (EC 1.3.8.7;MCAD) in tissues is below the lower limit of normal.|HPO|N|
CN376953|Acitivity of cystathionine beta-synthase (EC 4.2.1.22) below the lower limit of normal in cultured fibroblasts.|HPO|N|
CN376954|Activity of the enzyme glycogen phosphorylase in muscle tissue is below the lower limit of normal. Glycogen phosphorylase (EC 2.4.1.1) is also known as amylophosphorylase, muscle phosphorylase a and b, polyphosphorylase, and myophosphorylase.|HPO|N|
CN376955|Activity of the enzyme 6-phosphofructokinase in muscle tissue is below the lower limit of normal. 6-phosphofructokinase (EC 2.7.1.11) is also known as phosphofructokinase I and phosphohexokinase. The PFKM gene encodes the muscle isoform of phosphofructokinase. PFK catalyzes the irreversible conversion of fructose-6-phosphate to fructose-1,6-bisphosphate and is a key regulatory enzyme in glycolysis.|HPO|N|
CN376956|Concentration or activity of alpha-N-acetylglucosaminidase (EC 3.2.1.50) below the lower limit of normal. This enzyme can be measured in multiple tissues including leukocytes and cultured fibroblasts. It is also known as alpha-acetylglucosaminidase, N-acetyl-alpha-D-glucosaminidase, N-acetyl-alpha-glucosaminidase, and alpha-D-2-acetamido-2-deoxyglucosidase.|HPO|N|
CN376957|Activity of succinyl-CoA:3-oxoacid-CoA transferase (SCOT, or OXCT1; EC 2.8.3.5) below the lower limit of normal in cultured fibroblasts.|HPO|N|
CN376958|A non-suppressible aldosterone excess, defined as an abnormal result of one of any four suppression tests. These tests use oral sodium loading, oral fludrocortisone, oral captopril, or saline infusion to suppress aldosterone secretion.|HPO|N|
CN376961|Deposition of brown pigmentation in the conjunctiva.|HPO|N|
CN376962|Limitation of simultaneous ankle dorsiflexion and knee extension during mid-stance of gait.|HPO|N|
CN376963|Reduced thickness of the outer nuclear layer in the middle region of the retina. The outer nuclear layer (ONL) of the retina contains the nuclei of the cone and rod photoreceptors. Loss of the cellular machinery found in these nuclei causes irreparable loss of the photoreceptors and the capacity for visual function. This feature can be appreciated by directional optical coherence tomography.|HPO|N|
CN376964|Heterogeneous, increased parenchymal echogenicity. This imaging appearance is caused by multiple tiny cysts smaller than or just approaching the size necessary for detection, which disrupt the echo pattern without being clearly distinguishable, and appear as white grains on renal ultrasound, mainly in a subcapsular location.|HPO|N|
CN376965|A form of ductus venosus agenesis in which the umbilical vein connects via the portal sinus to the portal venous system (PVS) without giving rise to the ductus venosus. In some cases an intrahepatic shunt from a portal to a hepatic vein can be detected prenatally. This variant has been reported to have a favorable prognosis.|HPO|N|
CN376966|A form of ductus venosus agenesis in which umbilical vein does not connect to the portal venous system. The liver is bypassed and the umbilical vein drains into a systemic vein such as the inferior vena cava. This variant has been reported to have an unfavorable prognosis due to a presumed association with congestive heart failure and hydrops.|HPO|N|
CN376967|The concentration of D-gyceric acid in the blood circulation is above the upper limit of normal.|HPO|N|
CN376968|The concentration of D-carboxylic acid in the cerebrospinal fluid (CSF) is above the upper limit of normal.|HPO|N|
CN376969|Applies to a sign or symptom that is improved or made more bearable by ingestion of riboflavin (Vitamin B2).|HPO|N|
CN376970|An increased concentration of interleukin-1beta in the blood circulation.|HPO|N|
CN376971|Concentration or activity of myeloperoxidase (EC 1.11.1.7) as measured in neutrophils is below the limits of normal.|HPO|N|
CN376972|Reduction in diameter of the jugular foramen, an opening in the base of the skull that is located behind the carotid canal and is formed by the temporal bone and the occipital bone. The inferior petrosal sinus, three cranial nerves, the sigmoid sinus, and meningeal arteries pass through the jugular foramen.|HPO|N|
CN376973|The presence of extraluminal gas within the bowel wall.|HPO|N|
CN376974|Hepatobiliary scintigraphy is a nuclear imaging technique that permits evaluation of the liver and biliary system for acute and chronic cholecystitis, biliary atresia, biliary obstruction, and post-surgical biliary leak. With this investigation, a radiotracer is administered intravenously, bound to albumin, transported to the liver, and excreted into the biliary system. This term refers to a longer than normal time for the radiotracer to be visualized in the gallbladder. This finding may be a sign of chronic gallbladder disease or partial obstruction of the common bile duct.|HPO|N|
CN376975|Pancreatic arteriovenous malformation is defined as an abnormal vascular net, developed from one or more feeding arteries and enlarged early draining veins, creating an arteriovenous shunting.|HPO|N|
CN376976|The presence of autoantibodies in the serum that react against perilipin-1 (PLIN1).|HPO|N|
CN376977|Calcification, that is, pathological deposition of calcium salts in the spleen.|HPO|N|
CN376978|Abnormal reduction in the length of the esophagus.|HPO|N|
CN376979|A full-thickness injury of the wall of the stomach.|HPO|N|
CN376981|The concentration of Soluble CD163 in the blood circulation is above the upper limit of normal.|HPO|N|
CN376982|Cold agglutinin are erythrocyte antibodies which possess the property of agglutinating red blood cells at temperatures of below 37 degrees C, this phenomenon is reversible after heating.|HPO|N|
CN376983|The presence of Donath-Landsteiner (D-L) autoantibodies (immunoglobulins) in the serum.|HPO|N|
CN376984|The presence of an antibody in the blood circulation that is directed against an antigen on the surface of erythrocytes (red-blood cells).|HPO|N|
CN376985|Abnormal result for this screening test for urinary reducing substances including glucose, fructose, galactose, lactose, pentose and maltose, as well as amino acids, cysteine, tyrosine, homogentisic acid, ketone bodies, ascorbic acid and many drugs. This term is applied if the urine stick test for glucose was negative (normal).|HPO|N|
CN376986|Presence of succinylaminoimidazole carboxamide riboside (SAICAr). SAICAr is a toxic intermediate metabolite of purine synthesis.|HPO|N|
CN376987|Excessive amount of hyaluronic acid in urine.|HPO|N|
CN376988|The amount of methylmalonylcarnitine in the urine, normalized for urine concentration, is above the upper limit of normal.|HPO|N|
CN376989|Presence of trihydroxycholestanoic acid in the urine. Trihydroxycholestanoic acid is an intermediate in the biosynthesis of cholic acid. Elevated plasma levels of trihydroxycholestanoic acid have been found in patients with Zellweger syndrome.|HPO|N|
CN376990|The concentration of amonia in the cerebrospinal fluid (CSF) is above the upper limit of normal.|HPO|N|
CN376991|An abnormal (positive) result of the Venereal Disease Research Laboratory (VDRL) test performed in cerebrospinal fluid (CSF), suggesting past or present neurosyphilis.|HPO|N|
CN376992|The concentration of guanidinoacetic acid in the cerebrospinal fluid (CSF) is above the upper limit of normal.|HPO|N|
CN376993|Oligoclonal immunoglobulin G (IgG) bands (OCBs) are a useful diagnostic tool to detect a central humoral response. In particular, cerebrospinal fluid (CSF)-restricted OCBs represent a hallmark of multiple sclerosis (MS).|HPO|N|
CN376994|The concentration of 3-methoxy-4-hydroxyphenylglycolaldehyde in the cerebrospinal fluid (CSF) is below the lower limit of normal.|HPO|N|
CN376995|The concentration of alpha-crystallin B chain in the cerebrospinal fluid (CSF) is above the upper limit of normal.|HPO|N|
CN376996|The concentration of creatine in the cerebrospinal fluid (CSF) is below the lower limit of normal.|HPO|N|
CN376997|The concentration of protein Z in the blood circulation is below the lower limit of normal.|HPO|N|
CN376998|The concentration of 27-hydroxycholesterol in the blood circulation is above the upper limit of normal.|HPO|N|
CN376999|The concentration of lysophosphatidylcholines in the blood circulation is above the upper limit of normal.|HPO|N|
CN377000|The concentration of insulin-like growth factor 2 (IGF2) in the blood circulation is below the lower limit of normal. IGF2 is a peptide hormone regulating various cellular processes such as proliferation and apoptosis.|HPO|N|
CN377001|The concentration of nicotinamide adenine dinucleotide in the blood circulation is below the lower limit of normal.|HPO|N|
CN377002|The concentration of reduced nicotinamide adenine dinucleotide (NADH) in the blood circulation is below the lower limit of normal.|HPO|N|
CN377003|The concentration of fibroblast growth factor 23 in the blood circulation is above the upper limit of normal.|HPO|N|
CN377004|The concentration of asparagine in the cerebrospinal fluid (CSF) is below the lower limit of normal.|HPO|N|
CN377005|A swelling or enlargment localized to the pancreas. The word mass is usually used at an early stage of the diagnostic workup before the precise nature of the swelling has been determined.|HPO|N|
CN377006|A swelling or enlargment localized to the small intestine. The word mass is usually used at an early stage of the diagnostic workup before the precise nature of the swelling has been determined.|HPO|N|
CN377007|Impingement of another object such as a blood vessel upon the facial nerve, causing it to lose volume in the compressed region.|HPO|N|
CN377008|Lack of blood perfusion in a specific area of the lung. Pulmonary ventilation (V) and Perfusion (Q) scan, also known as lung V/Q scan, is a nuclear test that uses the perfusion scan to delineate the blood flow distribution and the ventilation scan to measure airflow distribution in the lungs.|HPO|N|
CN377009|Drainage of the ureter on one or both sides into an abnormal location. Normally the ureter drains via the internal ureteral orifice at the trigone of the urinary bladder. Ectopic ureteral orifice can be either intravesical (bladder neck) or, more often, extravesical. Ectopia in women is more frequently found in the urethra and the vaginal vestibule; much less frequently in vagina and in uterus. In men it is mostly found in the posterior urethra; in the male genital tract is very rare.|HPO|N|
CN377010|A congenital developmental defect characterized by the presence of two cervices on the uterus.|HPO|N|
CN377011|Intradural spinal lipoma (ISL) constitutes approximately 1% of all spinal tumors and is usually associated with lumbo-sacral spinal dysraphism. ISLs unassociated with spinal dysraphism are rare with only a few cases being reported in literature. They are seen in children and young adults and are situated on the posterior aspect of the spinal cord in the cervico-thoracic or thoracic regions. They represent intradural, subpial, juxtamedullary lesions.|HPO|N|
CN377012|A lighter than expected T2 signal on magnetic resonance imaging (MRI) of the cerebellum. This term refers to a localized hyperintensity affecting a particular region of the cerebellum.|HPO|N|
CN377013|Physical invasion or compression of the inferior vena cava by a pathological process or by thrombosis within the vein itself.|HPO|N|
CN377014|A well-demarcated, flesh colored, subcutaneous and usually freely movable lump or mass. Rheumatoid nodules can vary in size from small, pea sized lesions up to the size of a lemon and are most often round. The nodules usually are doughy or firm however and not tender. Typically rheumatoid nodules are distributed over areas of repeated trauma or pressure and occur adjacent to joints on extensor surfaces, such as the elbow, fingers and forearms.|HPO|N|
CN377015|The concentration of proinsulin in the blood circulation is above the upper limit of normal.|HPO|N|
CN377016|A feeling of stinging or irritation of the eyes.|HPO|N|
CN377017|Buildup of waxy flesh-colored scales on the margin of the eyelid.|HPO|N|
CN377018|Presence of blisters (bullae) on the tympanic membrane, often accompanied by fever, thickening, and erythematous appearance of the tympanic membrane, decreased or absent light reflex, and decreased mobility.|HPO|N|
CN377019|Applies to an abnormality whose distribution and appearance are located at regions of the male face covered by a beard or mustache.|HPO|N|
CN377020|Kerion is an erythematous, boggy, tender, often sterile, weeping nodule or plaque with pustules and draining sinuses. Hair in these areas appears lusterless, brittle, and is easily plucked. Kerion can be solitary or multiple but is usually unilateral. Patients with inflammatory tinea barbae may have constitutional symptoms like fever and malaise. Kerion is a coalesced sterile pustule, but occasionally they can get superinfected with cutaneous bacteria and develop regional lymphadenopathy.|HPO|N|
CN377021|Applies to an abnormality that is situated in (or predominant in) the trunk of the body. The trunk is the main part of a person's body, not including the head, legs, or arms.|HPO|N|
CN377022|Acitivity of acyl-CoA:dihydroxyacetone phosphate acyltransferase below the lower limit of normal in cultured fibroblasts.|HPO|N|
CN377023|Activity of alkyl-dihydroxyacetonephosphate (DHAP) synthase below the lower limit of normal in cultured fibroblasts.|HPO|N|
CN377024|Accumulation of fibronectin in the glomerulus.|HPO|N|
CN377025|Marked enlargement of nuclei observed predominantly in the proximal convoluted tubule cells.|HPO|N|
CN377026|Activity of acetyl-CoA carboxylase in the tissues below the lower limit of normal. The activity can be measured in multiple tissues including liver.|HPO|N|
CN377027|The amount of glycolic acid in the urine, normalized for urine concentration, is above the upper limit of normal.|HPO|N|
CN377028|The amount of propionic acid in the urine, normalized for urine concentration, is above the upper limit of normal.|HPO|N|
CN377029|The amount of butyric acid in the urine, normalized for urine concentration, is above the upper limit of normal.|HPO|N|
CN377030|The amount of isovaleric acid in the urine, normalized for urine concentration, is above the upper limit of normal.|HPO|N|
CN377031|The concentration of alpha-ketoglutarate in the blood circulation is above the upper limit of normal.|HPO|N|
CN377032|The concentration of ghrelin in the blood circulation is above the upper limit of normal. Ghrelin is a 28-amino-acid peptide predominantly secreted in the stomach and stimulates appetite and growth hormone (GH) release.|HPO|N|
CN377033|The concentration of stearoylcarnitine (C18:0) in the blood circulation is below the lower limit of normal.|HPO|N|
CN377034|The amount of iodine in the urine, normalized for urine concentration, is above the upper limit of normal.|HPO|N|
CN377035|The concentration of interleukin 15 (IL-15) in the blood circulation is above the upper limit of normal.|HPO|N|
CN377036|The concentration of squalene in the blood circulation is below the lower limit of normal.|HPO|N|
CN377037|Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities (NEDHBA) is an autosomal recessive disorder characterized by impaired intellectual development with striking radiologic abnormalities of the lateral ventricles (Fasham et al., 2023).|OMIM|N|
CN377038|Any neurological disorder in which the cause of the disease is a mutation in the SERAC1 gene.|MONDO|N|
CN377039|information about the patient's previous surgical treatments that might be relevant to the presenting illness or to provide optimal clinical management.|HPO|N|
CN377040|Any structural abnormality of a superficial temporal artery, originating from the external carotid artery and passing over the zygomatic process. The superficial temporal artery is located on the superficial parts of the forehead and sides of the head and face.|HPO|N|
CN377041|Patchy inflammation of the superficial temporal artery, forming isolated foci of arteritis.|HPO|N|
CN377042|Any anomaly of brain-evoked potentials, defined as potentials generated by exteroceptive stimuli reflect synchronized activity by neuronal and axonal groups in the central nervous system (CNS) resulting from the arrival of nerve impulses after stimulation of a peripheral nerve or its receptors. Depending on the type of stimulus, evoked potentials are categorized as visual (VEP), auditory (AEP), or somatosensory (SSEP). Motor evoked potentials (MEP) occur when the brain's motor area is stimulated. They result from the activation of a sufficient number of motor units.|HPO|N|
CN377043|Any deviation from the normal range of the concentration of interleukin 6 (IL-6) in the blood circulation.|HPO|N|
CN377044|Any deviation from the normal range of the concentration of interleukin 12 in the blood circulation.|HPO|N|
CN377045|The concentration of mercury in the blood is above the upper limit of a guidance value for total blood mercury concentrations that implies possible injurious effects.|HPO|N|
CN377046|The concentration of cadmium in the blood is above the upper limit of a guidance value for total blood mercury concentrations that implies possible injurious effects.|HPO|N|
CN377047|The concentration of thallium in the blood is above the upper limit of a guidance value for total blood mercury concentrations that implies possible injurious effects.|HPO|N|
CN377048|The concentration in the blood circulation of a member of the CC chemokine family is outside of normal limits.|HPO|N|
CN377049|The concentration of asialotransferrin relative to that of transferrin in the cerebrospinal fluid (CSF) is below the lower limit of normal.|HPO|N|
CN377050|The presence of an infectious agent in the sputum, as characterized by sputum culture or other investigation.|HPO|N|
CN377051|Growth of mycobacterium avium in a sputum culture.|HPO|N|
CN377052|A test result demonstrating the presence of an antigen (marker such as a protein against which an antibody reacts) specific to an infectious agent.|HPO|N|
CN377053|Demonstration of an antigen specific to Cysticercosis in the bloodstream.|HPO|N|
CN377054|Involuntary attacks of compulsive paroxysmal shouting. The shouting behaviors may be extremely loud and not related to the ongoing mental state of the affected individual. Shouting episodes may occur in bouts and last for several hours.|HPO|N|
CN377056|Continuous groaning, moaning, grunting, and shrieking.|HPO|N|
CN377057|Congenital absence or underdevelopment of the uterine cervix.|HPO|N|
CN377058|Underdevelopment of the uterine cervix.|HPO|N|
CN377059|A serous papillary adenocarcinoma that arises from the lining of the peritoneum|HPO|N|
CN377060|Any kind of test for an infectious agent in skin positive.|HPO|N|
CN377061|A test for fungus, e.g., fungal hyphae, in a skin specimen (usually a skin scraping), demonstrates the presence of fungi. Most commonly, a skin scraping is obtained using a small scalpel blade, the specimen is placed on a clean glass slide, a drop of potassium hydroxide (KOH) is added, and the specimen is examined microscopically for fungal structures such as hyphae or yeast.|HPO|N|
CN377062|Count of eosinophils in nasal secretions (for instance, nasal discharge) above the upper limit of normal.|HPO|N|
CN377063|Count of neutrophils in nasal secretions (for instance, nasal discharge) above the upper limit of normal.|HPO|N|
CN377064|A developmental defect characterized by congenital absence of the seminal vesicle.|HPO|N|
CN377065|In a patient with nystagmus, The examiner briskly rotates the head of the patient while having the patient fixate on a target. A corrective saccade indicates the patient's eye will move in one direction and quickly return back to neutral position.|HPO|N|
CN377066|Any kind of test for an infectious agent in the cerebrospinal fluid (CSF) positive.|HPO|N|
CN377067|Detection of Toxoplasma gondii nucleic acid in the cerebrospinal fluid (CSF) by a method such as polymerase chain reaction.|HPO|N|
CN377068|The activity or concentration of plasminogen activator inhibitor-1 in the blood circulation is above the upper limit of normal.|HPO|N|
CN377069|The activity or concentration of plasminogen activator inhibitor-1 in the blood circulation is outside of the limits of the normal range.|HPO|N|
CN377070|The pattern by which a phenotype is localized to or predominant in a part of the brain.|HPO|N|
CN377071|Localization to or predominance in the frontal cortex of the brain.|HPO|N|
CN377072|Localization to or predominance in the parts of the brain within the posterior fossa.|HPO|N|
CN377073|Localization to or predominance in the subcortical region of the brain.|HPO|N|
CN377074|Localization to or predominance in the parietal cortex of the brain.|HPO|N|
CN377075|Localization to or predominance in the occipital cortex of the brain.|HPO|N|
CN377076|History of use of tobacco products such as cigarettes.|HPO|N|
CN377077|A fluid-filled sac near the vaginal opening. A Bartholin cyst is usually unilateral, asymptomatic blockage of the Bartholin gland, which may lead to a painless swelling.|HPO|N|
CN377078|Any deviation from the normal concentration in the blood circulation of alanine aminotransferase or aspartate aminotransferase.|HPO|N|
CN377079|The concentration of aspartate aminotransferase (AST) in the blood circulation is below the lower limit of normal.|HPO|N|
CN377080|The concentration of succinic acid in the urine, normalized for urine concentration, is above the upper limit of normal.|HPO|N|
CN377081|Detection of Varicella zoster virus nucleic acid in the cerebrospinal fluid (CSF) by a method such as polymerase chain reaction.|HPO|N|
CN377082|Positive serology in the cerebrospinal fluid (CSF) for a exposure to an infectious agent (i.e., examining CSF for the presence of pathogen-specific antibodies).|HPO|N|
CN377083|Positive (abnormal) result of a cerebrospinal fluid (CSF) test such as polymerase chain reaction that is targeted against a nucleic acid sequence specific for a pathogen.|HPO|N|
CN377084|The presence of antibodies in the cerebrospinal fluid (CSF) that react against a component of varicella zoster virus.|HPO|N|
CN377085|The concentration of interleukin-6 in the blood circulation is below the lower limit of normal.|HPO|N|
CN377087|The amount of beta alanine in the urine, when normalized for urine concentration, is above the upper limit of normal.|HPO|N|
CN377088|The concentration of beta-alanine present in the cerebrospinal fluid (CSF) is above the upper limit of normal.|HPO|N|
CN377089|The concentration of 2-aminoadipic acid in the blood circulation is above the upper limit of normal.|HPO|N|
CN377090|The amount of N-carbamoyl-beta-alanine present in urine, when adjusted for urine concentration, is above the upper limit of normal.|HPO|N|
CN377091|Concentration of cystathionine in the cerebrospinal fluid (CSF) above the upper limit of normal.|HPO|N|
CN377092|The amount of gamma-glutamylphenylalanine level in the urine, when normalized for urine concentration, is above the upper limit of normal.|HPO|N|
CN377093|Concentration of aspartylglucosamine in the blood circulation above the upper limit of normal.|HPO|N|
CN377094|The amount of saccharopine in the urine, when normalized to urine concentration, is above the upper limit of normal.|HPO|N|
CN377095|Abnormal increase in size of the tectal plate (also known as the tectum or the quadrigeminal plate). The tectum is the dorsal portion of the midbrain (brainstem).|HPO|N|
CN377097|A lighter than expected T1 signal on magnetic resonance imaging (MRI) of the brainstem. This term refers to a localized hyperintensity affecting a particular region of the brainstem.|HPO|N|
CN377098|A type of fracture that occurs in the trabecular cancellous bone just beneath the subchondral bone plate without disruption of the articular surface.|HPO|N|
CN377099|An abscess (i.e., a circumscribed area of pus or necrotic debris) localized in the area surrounded by the deep fascia of the neck including the pharynx, larynx, trachea, upper esophagus, thyroid, and parathyroid glands. Infections of pharyngeal, tonsillar, and laryngeal origin affect this space, which includes the parapharyngeal and retropharyngeal spaces.|HPO|N|
CN377100|Anlarged and edematous epiglottis. This sign can be observed on a lateral radiograph of the neck and it suggests a diagnosis of acute infectious epiglottitis.|HPO|N|
CN377101|Increase in the anterior posterior dimension of the prevertebral space, which is located in the neck region between the anterior part of the cervical spine and the deep layer of the deep cervical fascia running between the transverse processes of the spine.|HPO|N|
CN377102|Increase in diameter of the third cranial nerve (oculomotor nerve). This feature can be observed by magnetic resonance imaging and may be accompanied by contrast enhancement.|HPO|N|
CN377103|Concentration of sphoingomyelin in tissues above the upper limit of normal.|HPO|N|
CN377104|Medical history of recent iodinated or radioiodine contrast use.|HPO|N|
CN377105|Difficulty inserting a nasogastric tube (NGT), a flexible plastic tube that is placed through the nose and esophagus into the stomach and used to administer drugs or for feeding. There are certain circumstances that may make NGT insertion difficult. They are esophageal narrowing, comatose or intubated patients, and patients who have sustained severe facial or skull injuries.|HPO|N|
CN377107|A medical history in a male of not having been circumcized.|HPO|N|
CN377108|A medical history of use of facial makeup.|HPO|N|
CN377109|A feeling of clicking or snapping at the knuckle (metacarpophalangeal joint) upon extension of flexion of the finger.|HPO|N|
CN377110|An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the forearm.|HPO|N|
CN377111|A type of displaced fracture in which there has been a rotation of the distal fracture fragment in relation to the proximal portion.|HPO|N|
CN377112|Applies to an abnormality that is situated on the skin in areas where bones are close to the surface (bony prominences).|HPO|N|
CN377113|A past medical history of wearing tight shoes, toe-box shoes, or high heel shoes.|HPO|N|
CN377115|Medical history of recently eating wild mushrooms.|HPO|N|
CN377116|Refers to symptomatology that begins in the proximal limbs and subsequently affects the distal limbs.|HPO|N|
CN377117|The selective paralysis of voluntary fascio-pharyngo-glosso-masticatory movements with preservation of reflexive and automatic functions is referred to as autonomic-voluntary dissociation, which is a distinctive feature of Anterior opercular syndrome (also known as Foix-Chavany-Marie syndrome).|HPO|N|
CN377118|A swelling or enlargment localized to the jaw. The word mass is usually used at an early stage of the diagnostic workup before the precise nature of the swelling has been determined.|HPO|N|
CN377119|Exposure to continuous light at night, including night-shift work or a nocturnal lifestyle.|HPO|N|
CN377120|Past medical history of a woman who is menstruating, i.e., not premenstrual or post-menopause.|HPO|N|
CN377121|A past medical history that indicates that the patient had a surgical procedure involving the abdomen.|HPO|N|
CN377122|The thickness of the Descement membrane is above the upper limit of normal.|HPO|N|
CN377124|Onset of signs or symptoms of disease during the period of a woman's life shortly before the occurrence of the menopause.|HPO|N|
CN377125|Onset of signs or symptoms of disease during the period of a woman's life after the occurrence of the menopause.|HPO|N|
CN377126|Mosaic attenuation pattern in the lung is a term used to describe regions of differing pulmonary attenuation on CT imaging. It is a non-specific finding, although is associated with several conditions such as obstructive small airway disease, occlusive vascular disease (in which case is called mosaic perfusion pattern), pulmonary edema, and parenchymal diseases.|HPO|N|
CN377127|The ratio of aldosterone concentration to renin concentration is above the upper limit of normal. If aldosterone is expressed in ng/dl and plasma renin activity is expressed as ng/ml/hr, then values above 20 with aldosterone level above 15 are considered indicative of primary aldosteronism.|HPO|N|
CN377128|An increase in the gas content inside the bowel associated with distension of the abdomen and hydroaeric noises. The most common symptom of meteorism is a bloated sensation. It may be associated with abdominal discomfort. Some individuals may also complain of a distended stomach and excessive belching and/or passage of flatus.|HPO|N|
CN377129|Normal subjects display an increase in the concentration of ammonia in the blood following an ischemic exercise test. This term refers to an increase in ammonia that is below the lower limit of normal.|HPO|N|
CN377130|Frequent fluctuations of blood pressure between normal and high levels, changing more dramatically than normal.|HPO|N|
CN377131|The axon reflex (also known as the flare response) is a response that is stimulated by peripheral nerves of the body that travels away from the nerve cell body and branches to stimulate target organs. In the human skin, there are three different phenomena mediated by axon reflex mechanism; flare, sweating and pilomotion. Stroking or intradermal injection of histamine or substance P into the human skin pro- duces widespread vasodilatation (flare) and plasma extravasation (wheal). This term refers to the failure of intradermal hista injection to elicit flare.|HPO|N|
CN377132|Response to the cold pressor test below the lower limit of normal. The cold pressor test is a simple and validated test in which the subject immerses one hand or foot into ice water for 1 to 3 minutes while blood pressure (BP) and heart rate are monitored. The cold stimulus activates afferent sensory pathways that, in turn, trigger a sympathetic response resulting in an increase in BP.|HPO|N|
CN377133|Fecal analysis for Giardia antigen is abnormal. Tests include direct fluorescent-antibody (DFA), which detect sintact organisms, and enzyme immunoassays (EIAs), which detect soluble stool antigens.|HPO|N|
CN377134|Loss of a substantial amount of blood during delivery (some definitions stipulate 1000 ml or more), typically associated with manifestations such as low blood pressure, a rapid heart rate, dizziness, light-headedness, fatigue, and weakness.|HPO|N|
CN377135|Endocarditis infection occurs along the edges of the heart valves. Damage to the cardiac endothelium followed by platelet and fibrin deposition results in a sterile lesion known as nonbacterial thrombotic endocarditis (NBTE) or vegetation. Microbes entering the bloodstream via routine or invasive procedures adhere to the vegetation and are engulfed in an outer meshwork of fibrin and platelets. Subsequent rapid microbial multiplication in a protected area of impaired host defense leads to vegetation growth and continuous bacteremia.|HPO|N|
CN377136|The anteroposterior dimension of the chest on the lateral radiograph is often relatively narrow compared with the chest width on the frontal radiograph.|HPO|N|
CN377137|Lack of the oocyte extracellular matrix region (zona pellucida). This feature can be observed following follicular aspiration (retrieval of eggs for fertility treatments).|HPO|N|
CN377138|The presence of the umbilical cord (UC) between the fetal presenting part and the cervix, regardless of the membrane status (intact or ruptured). Descent of the UC through the cervix is essential for diagnosing cord prolapse. It can be either overt (past the presenting part) or occult (alongside the presenting part).|HPO|N|
CN377139|The relative concentration of deoxypyridinoline (Dpyr) to that of pyridinoline (Pyr) cross-links in urine is above the upper limit of normal.|HPO|N|
CN377140|The amount of thymine in the urine, normalized for urine concentration, is above the upper limit of normal.|HPO|N|
CN377141|The amount of indoleacetic acid in the urine, normalized for urine concentration, is above the upper limit of normal.|HPO|N|
CN377142|Activity of phosphorylase kinase in liver tissue below the lower limit of normal. Phosphorylase kinase (PhK) has a major regulatory role in the breakdown of glycogen. The enzyme PhK comprises four copies each of four subunits, encoded by PHKA1, PHKA2, PHKB, and PHKG.|HPO|N|
CN377143|Activity or concentration of ornithine transcarbamylase in the liver below the lower limit of normal.|HPO|N|
CN377144|The amount of quinolinic acid in the urine, normalized for urine concentration, is above the upper limit of normal. Quinolinic acids is a pyridinedicarboxylic acid that is pyridine substituted by carboxy groups at positions 2 and 3. It is a metabolite of tryptophan.|HPO|N|
CN377145|Abrnormal reduction in the height of the mucosa of the small intestine. The mucosa is arranged in regular circular folds (the circular valves of Kerckrin), the mucosal surface is covered with small projections called villi, which are slender, about 1.5-2 mm long projections of the mucosa into the lumen. In between the villi are the crypts. This term refers to a pathological thinning of these structures.|HPO|N|
CN377146|A congenital anomaly characterized by underdevelopment of one or both seminal vesicles, which are the two small glands that store and produce the majority of the fluid that makes up semen.|HPO|N|
CN377147|The distance around the abdomen of a fetus, generally as measured by prenatal sonography, is below the lower limit of normal.|HPO|N|
CN377148|The diaphragm normally projects up into the thoracic cavity. In the presence of malformations such as enlarged lungs, the diaphragm may appear abnormally flat or even everted (with the middle of the diaphragm projecting downwards into the abdominal cavity).|HPO|N|
CN377149|Dense floating particles in amniotic fluid, said to resemble snowflakes. This finding can result from shedding of the epidermis in conditions such as Harlequin ichthyosis.|HPO|N|
CN377150|An abnormally increased thickness of a leaflet of the mitral valve.|HPO|N|
CN377151|The presence of autoantibodies (immunoglobulins) in the serum that react against parietal cell antigens.|HPO|N|
CN377152|The presence of autoantibodies (immunoglobulins) in the blood circulation that react against intrinsic factor.|HPO|N|
CN377153|The presence of antibodies in the blood circulation that react against a component of the human immunodeficiency virus (HIV).|HPO|N|
CN377154|The presence of antibodies in the blood circulation that react against a component of poliovirus.|HPO|N|
CN377155|The presence of autoantibodies (immunoglobulins) in the blood circulation that react against the N-Methyl-D-aspartate (NMDA) receptor NR2A subunit.|HPO|N|
CN377156|The presence of antibodies in the blood circulation that react against streptolysin O.|HPO|N|
CN377157|Concentration or activity of 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase; EC 2.1.2.3) a in a tissue is below the lower limit of normal.|HPO|N|
CN377158|Applies to a sign or symptom that is improved or made more bearable by treatment with an agent that reduces gastric acidity such as proton pump inhibitors, histamine receptor blockers,omeprazole, esomeprazole, dexlansoprazole, pantoprazole, lansoprazole, famotidine, or ranitidine.|HPO|N|
CN377159|The presence of an antibody in the blood circulation that is directed against a coagulation factor.|HPO|N|
CN377161|Concentration of argininosuccinate synthetase (EC 6.3.4.5) in body tissues is below the lower limit of normal. Clinically, argininosuccinate synthetase is measured in the liver or in cultered skin fibroblasts.|HPO|N|
CN377162|Acitivity of aspartoacylase below the lower limit of normal in cultured fibroblasts. Aspartoacylase (EC 3.5.1.15), also called aminoacylase-2, is an enzyme that hydrolyzes N-acetyl-L-aspartic acid (NAA) to aspartate and acetate.|HPO|N|
CN377163|Acitivity of malonyl-CoA decarboxylase (EC 4.1.1.9) below the lower limit of normal in cultured fibroblasts.|HPO|N|
CN377167|A thyroid hormone resistance syndrome characterized by resistance in peripheral tissues but not in the pituitary.|MONDO|N|
CN377170|A adenocarcinofibroma that involves the body of uterus.|MONDO|N|
CN377171|Insulitis is an inflammatory infiltration of the islets of Langerhans found especially in young patients with recent onset type 1 diabetes.|MONDO|N|
CN377172|An eosinophilic esophagitis that starts in childhood.|MONDO|N|
CN377173|A benign form of insulitis which is an inflammation of the islets of Langerhans of the pancreas. The pancreas and in some cases the Pancreatic ß-cells become infiltrated by polymorphonuclear leukocytes and infiltrated by mononuclear cells, leading to inflammation.|MONDO|N|
CN377181|A spectrum in which individuals may present with phenotypes ranging from hemiplegic migraines without epilepsy to developmental and epileptic encephalopathy with or without episodic hemiplegia or other forms of paresis. Symptoms and severity may vary within families.|MONDO|N|
CN377182|A congenital heart disease that is present at birth. Representative examples include atrial septal defect 9, conotruncal heart malformations, tetralogy of Fallot, ventricular septal defect, atrioventricular septal defect, bicuspid aortic valve, transposition of the great arteries, persistent truncus arteriosus, congenital heart disease with pancreatic agenesis, and congenital heart disease with neonatal diabetes.|MONDO|N|
CN377183|A congenital heart disease that is present at birth. Representative examples include tetralogy of fallot, bicuspid aortic valve, atrial septal defect, double outlet right ventricle, ventricular septal defect, and coarctation of the aorta, and atrioventricular canal.|MONDO|N|
CN377186|A heterogeneous group of genetic conditions with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology characterized by abnormalities in the brain, spinal cord, nerves, or muscles.|MONDO|N|
CN377187|A heterogeneous group of genetic conditions, with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology that are characterized by abnormalities in the cardiovascular system.|MONDO|N|
CN377188|A benign tumor of the liver, characterized by hyperplastic growth of hepatocytes and a central fibrovascular scar.|MONDO|N|
CN377192|A rare genetic neurological disorder characterized by congenital or early-onset sensorineural deafness and adult-onset progressive leukoencephalopathy. Progressive cognitive impairment and behavioral abnormalities are observed in the second or third decade of life, sometimes preceded by mild developmental delay and learning difficulties. Visual impairment in adult age has been reported. No central nervous system calcification is reported.|MONDO|N|
CN377202|Congenital amegakaryocytic thrombocytopenia-1 (CAMT1) is an autosomal recessive disorder characterized by onset of thrombocytopenia and megakaryocytopenia in infancy or early childhood. The disorder is progressive and evolves to pancytopenia and bone marrow failure. Serum thrombopoietin is elevated. There is a favorable response to bone marrow transplantation (Muraoka et al., 1997; King et al., 2005).
Genetic Heterogeneity of Congenital Amegakaryocytic Thrombocytopenia
CAMT2 (620481) is caused by mutation in the THPO gene (600044) on chromosome 3q27.|OMIM|N|
CN377205|Megalencephaly-polydactyly syndrome (MPAPA) is an autosomal dominant disorder characterized by megalencephaly, ventriculomegaly, postaxial polydactyly, and, notably, neuroblastoma during infancy (summary by Nishio et al., 2023).|OMIM|N|
CN377227|Intracranial calcifications refer to calcifications within the brain parenchyma or vasculature. The five major components of the brain comprise the cerebrum, cerebellum, brain stem, pituitary gland, and hypothalamus.|HPO|N|
CN377229|Neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities (NEDPBA) is an autosomal recessive disorder characterized by delayed developmental milestones apparent in late infancy or early childhood, impaired intellectual development with learning difficulties, and behavioral abnormalities. Motor abnormalities, including parkinsonism and spasticity, usually develop in the third or fourth decades, although earlier onset has been reported. Some patients have seizures. There is inter- and intrafamilial variability (Kuipers et al., 2018; Al-Kasbi et al., 2021).|OMIM|N|
CN377231|Generalized epilepsy with febrile seizures plus type 12 (GEFSP12) is characterized by variable types of seizures, most often febrile seizures, sometimes combined with additional nonfebrile seizures, including focal or generalized seizures. Some mutation carriers do not have febrile seizures, but demonstrate focal, generalized, rare myoclonic-atonic seizures, or nonspecific epilepsy consistent with idiopathic generalized epilepsy (EIG; see 600669). The transmission pattern of GEFSP12 is consistent with autosomal dominant inheritance with variable expressivity within families and incomplete penetrance (Heron et al., 2021).
For a discussion of genetic heterogeneity of GEFS+, see 604233.|OMIM|N|
CN377233|Macular dystrophy with or without cone dysfunction (MDCD) is a progressive autosomal recessive disorder characterized by reduced visual acuity and macular atrophy involving the fovea. Some patients also exhibit mild generalized cone dysfunction (Bauwens et al., 2024).|OMIM|N|
CN377238|Thrombocytopenia-12 with or without myopathy (THC12) is an autosomal recessive disorder characterized by congenital thrombocytopenia apparent from infancy or early childhood. Most affected individuals have bleeding episodes, including petechiae, easy bruising, epistaxis, hematomas, menorrhagia, and increased bleeding after trauma or surgery, although rare patients may have thrombocytopenia without bleeding. Platelets are enlarged (macrothrombocytopenia), and there is an increase of circulating immature platelets, consistent with increased production. Patient platelets show hyposialylation due to GNE mutations, which causes increased removal of platelets from the circulation, shortened platelet lifespan, and resultant thrombocytopenia. In contrast to the thrombocytopenia, which is present since birth or early childhood, features of myopathy usually do not develop until the mid-twenties, similar to Nonaka myopathy (summary by Zhen et al., 2014, Izumi et al., 2014; Bottega et al., 2022).
For a discussion of genetic heterogeneity of thrombocytopenia, see THC1 (313900).|OMIM|N|
CN377239|Seckel syndrome-11 (SCKL11) is characterized by severe primary microcephaly, short stature, developmental delay, impaired intellectual development, facial dysmorphisms, and digital abnormalities (Li et al., 2024).
For a general phenotypic description and discussion of genetic heterogeneity of Seckel syndrome, see SCKL1 (210600).|OMIM|N|
CN377240|Developmental and epileptic encephalopathy-113 (DEE113) is characterized by severe early-onset recurrent epilepsy, which is worsened by treatment with levetiracetam. Patients develop secondary failure of growth and development (summary by and Huq, 2015 and Al-Maawali et al., 2024).
For general phenotypic information and a discussion of genetic heterogeneity of DEE, see 308350.|OMIM|N|
CN377243|Jeffries-Lakhani neurodevelopmental syndrome (JELANS) is an autosomal recessive disorder characterized by hypotonia, early-onset seizures, and global developmental delay apparent from infancy. Affected individuals have motor delay, speech delay, and impaired intellectual development, and about half of patients are nonambulatory and/or nonverbal. Some patients have cardiac arrhythmia, but congenital cardiac septal defects are only rarely observed. Additional features may include feeding difficulties, recurrent infections, ocular defects, and nonspecific dysmorphic features. Premature death due to cardiac arrhythmia or epilepsy may occur (Jeffries et al., 2024).|OMIM|N|
CN377244|Developmental and epileptic encephalopathy-114 (DEE114) is characterized by moderately to severely impaired intellectual development, onset of epilepsy within the first 18 months of life, and a choreiform, dystonic, or dyskinetic movement disorder (Platzer et al., 2022).
For general phenotypic information and a discussion of genetic heterogeneity of DEE, see 308350.|OMIM|N|
CN377268|X-linked syndromic intellectual developmental disorder-37 (MRXS37) is a developmental disorder showing phenotypic variability and variable severity. Male mutation carriers tend to be more severely affected than female mutation carriers, some of whom may even be asymptomatic. In general, the disorder is characterized by global developmental delay with delayed walking, speech delay, impaired intellectual development that ranges from borderline low to moderate, and behavioral abnormalities, such as autism and sleeping difficulties. Many patients are able to attend mainstream schools with assistance and work under supervision. Additional more variable features include sensorineural hearing loss, ocular anomalies, feeding difficulties, dysmorphic facial features, inguinal and umbilical hernia, genitourinary defects, congenital heart defects, musculoskeletal anomalies, and endocrine dysfunction, such as hypogonadism or hyperparathyroidism (Shepherdson et al., 2024).|OMIM|N|
CN377269|Primary pulmonary hypertension-6 (PPH6) is characterized by markedly elevated pulmonary arterial hypertension, associated with reduced oxygen saturation and diffuse ground-glass opacities on chest x-ray. Lung biopsy shows thickening of the alveolar septae and abnormally proliferating capillaries (Postma et al., 2023).
For a general phenotypic description and a discussion of genetic heterogeneity of primary pulmonary hypertension, see PPH1 (178600).|OMIM|N|
CN377270|Congenital neuromuscular disorder with dysmorphic facies (NMDF) is an autosomal recessive disorder characterized by impaired skeletal muscle development, usually resulting in hypotonia and secondary joint contractures, and dysmorphic facial features. Features are apparent from birth. Affected individuals may show motor delay, speech delay, and impaired intellectual development. The severity of the disorder is highly variable (Schnabel et al., 2023; Roos et al., 2023).|OMIM|N|
CN377271|Syndromic thrombocytopenia-13 (THC13) is an autosomal recessive disorder characterized mainly by congenital thrombocytopenia resulting in increased bleeding. Platelets tend to be enlarged (macrothrombocytopenia) and/or gray and show functional defects. Some patients have infection-induced leukopenia or anemia and pancytopenia. Additional more variable features have also been reported, including mitral valve malformations, pyloric stenosis, and impaired intellectual development (Seo et al., 2019; Febres-Aldana et al., 2020; Marin-Quilez et al., 2023).
For a discussion of genetic heterogeneity of thrombocytopenia, see THC1 (313900).|OMIM|N|
CN377272|Autosomal recessive cutis laxa type ID (ARCL1D) is characterized by facial dysmorphism, joint hypermobility, muscle hypotonia, and multiple severe herniations, including inguinal, ventral, diaphragmatic, sciatic, and obturator, as well as large diverticula of the gastrointestinal tract and urinary bladder. The skin is thin and translucent with easy bruising; the degree of laxity is variable and progresses with age in some patients (Megarbane et al., 2012; Bizzari et al., 2020; Driver et al., 2020; Verlee et al., 2021).
For a general phenotypic description and discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (219100).|OMIM|N|
CN377273|Concentration of C12 acylcarnitines in the blood circulation above the upper limit of normal. C12 acylcarnitines have a twelve-carbon acyl chain.|HPO|N|
CN377274|Increased activity of the frontalis muscle, causing a characteristic staring and astonished facial expression.|HPO|N|
CN377275|Concentration of the complement component C3 in the blood circulation above the upper limit of normal.|HPO|N|
CN377276|The concentration of inhibin B in the blood circulation is outside the limits of normal.|HPO|N|
CN377277|The concentration of lipoprotein(a) in the blood circulation is outside the limits of normal.|HPO|N|
CN377278|Any kind of test for an infectious agent in the blood circulation positive.|HPO|N|
CN377279|Any kind of test for an infectious agent in the respiratory tract positive.|HPO|N|
CN377280|The presence of autoantibodies (immunoglobulins) in the serum that react against desmocollin.|HPO|N|
CN377281|A history of exposure by inhalation of airborne particles generated during the processing of raw, nonsynthetic textiles, particularly cotton. Classically, exposure to cotton dust during the spinning and manufacturing process causes byssinosis. However, exposure to jute, flax, and hemp fibers has also been implicated in its development.|HPO|N|
CN377282|Localized or diffuse epithelial proliferation with hypertrophy of the muscularis layer and invagination of the mucosa through the muscularis, forming intramural diverticula (i.e., small, bulging pouches in the wall of the gallbladder).|HPO|N|
CN377283|Porcelain gallbladder refers to the condition in which the inner gallbladder wall is encrusted with calcium. The wall becomes brittle, hard, and often takes on a bluish hue. It is usually found incidentally on plain abdominal x-rays or other imaging because most patients are asymptomatic.|HPO|N|
CN377284|Strands of scar tissue bands of scar tissue that form an abnormal connection between the gallbladder and another abdominal structure. Adhesions can form followiing gallbladder inflamation (cholecystitis).|HPO|N|
CN377285|An abnormal connection between the gallbladder and the duodenum.|HPO|N|
CN377286|Accumulation of gas in the biliary tree.|HPO|N|
CN377287|A gallstone located outside of the gallbladder.|HPO|N|
CN377288|Sleep drunkenness refers to the prolonged and pronounced difficulty with awakening from nocturnal sleep and daytime naps. This symptom should be distinguished from the milder and physiologic state of sleep inertia seen even in healthy controls .|HPO|N|
CN377290|An abscess containing tiny yellow clumps (sulfur granules), formed by infection with Actinomyces and generally associated with a granulomatous and suppurative infection.|HPO|N|
CN377291|A condition in which part of the tympanic membrane is pull backed into the middle ear cavity (also called retraction pocket).|HPO|N|
CN377293|A fluid-filled sac (cyst) in the region below the cortex of the cerebrum. In magnetic resonance imaging, the fluid within the cyst has the same appearance as cerebrospinal fluid (CSF).|HPO|N|
CN377294|The presence of autoantibodies (immunoglobulins) in the blood circulation that react against A Disintegrin and Metalloprotease with ThromboSpondin type 1 repeats, member 13 (ADAMTS13).|HPO|N|
CN377295|A tendency to breathe through the mouth. Defined as over 25-30 percent of the air passing through the mouth instead of the nose, mouth breathing often occurs due to upper airway obstruction which reduces the nasal airflow and forces the air to enter completely or partially through oral cavity.|HPO|N|
CN377296|An appearance of the shoulders whereby the neck-trapezius angle (angle between the neck and the shoulder) and the angle formed by the shoulder and the arms hanging at the side of the body are both close to 90 degrees. This gives the should the appearance of the corner of a square.|HPO|N|
CN377297|The amount of mesaconic acid in the urine, normalized for urine concentration, is above the upper limit of normal.|HPO|N|
CN377298|The amount of 3-methyladipic acid in the urine, normalized for urine concentration, is above the upper limit of normal.|HPO|N|
CN377299|The amount of D-lactate in the urine, normalized for urine concentration, is above the upper limit of normal. L-lactate is a familiar molecule to the human body and is also produced in large amounts in human tissues, depending on metabolic conditions. In contrast, D-lactate is produced only in minute quantities in human tissues, and is therefore not detectable in the bloodstream under normal physiological conditions.|HPO|N|
CN377300|The concentration of alpha-ketoglutarate in the cerebrospinal fluid (CSF) is above the upper limit of normal.|HPO|N|
CN377301|The amount of 2,3-dihydroxy-2-methylbutanoic acidin the urine, normalized for urine concentration, is above the upper limit of normal.|HPO|N|
CN377302|A swelling or enlargment localized to the oral cavity of a fetus. The word mass is usually used at an early stage of the diagnostic workup before the precise nature of the swelling has been determined. This finding is generally first observed by prenatal sonography or magnetic resonance imaging.|HPO|N|
CN377303|Increase in diameter of the ejeculatory duct. The ejaculatory duct delivers sperm into the urethra, adding secretions from the prostate and is formed by the union of the vas deferens with the duct of the seminal vesicle.|HPO|N|
CN377304|The concentration of Wiskott-Aldrich syndrome protein in hematopoietic cells is below the lower limit of normal. This feature is measured by flow cytometry or Western blotting.|HPO|N|
CN377305|The number of T cells in peripheral blood that express FOXP3-expressing is below the lower limit of normal. This finding is determined by flow cytometry.|HPO|N|
CN377306|Concentration of a complement component in the blood circulation is above the upper limit of normal.|HPO|N|
CN377307|The presence of autoantibodies (immunoglobulins) in the blood circulation that react against a component of beta-fodrin.|HPO|N|
CN377308|The concentration of tetradecenoylcarnitine (C14:1) in the blood circulation is above the upper limit of normal.|HPO|N|
CN377309|The amount of 2-trans,4-cis-decadienoylcarnitine in the urine, normalized for urine concentration, is above the upper limit of normal.|HPO|N|
CN377310|The concentration of 2-trans,4-cis-decadienoylcarnitine in the blood circulation is above the upper limit of normal.|HPO|N|
CN377311|The amount of N-acetyltyrosine in the urine, normalized for urine concentration, is above the upper limit of normal.|HPO|N|
CN377312|The amount of manganese in the urine, normalized for urine concentration, is above the upper limit of normal.|HPO|N|
CN377313|The amount of manganese in the urine, normalized for urine concentration, is below the lower limit of normal.|HPO|N|
CN377314|Concentration of a catecholamine in the blood circulation below the lower limit of normal.|HPO|N|
CN377315|An increase in the level of guanidinoacetate in the brain identified by magnetic resonance spectroscopy (MRS).|HPO|N|
CN377316|The concentration of beta chorionic gonadotropin in the blood circulation is above the upper limit of normal.|HPO|N|
CN377317|The concentration of C-X-C motif chemokine 10 (CXCL10) in the blood circulation is above the upper limit of normal.|HPO|N|
CN377318|The concentration of interleukin 12 (IL-12) in the blood circulation is below the lower limit of normal.|HPO|N|
CN377319|The concentration of fibroblast growth factor 23 in the blood circulation is below the lower limit of normal.|HPO|N|
CN377320|The concentration of fibroblast growth factor 23 in the blood circulation is outside of the limits of normal.|HPO|N|
CN377321|Difficulty or reduced ability to walk on heels. Heel-walking can be tested as a part of the neurological examination. Foot dorsal extention weakness leads to difficulties in walking on heels.|HPO|N|
CN377322|The presence of autoantibodies (immunoglobulins) in the serum that react against prothrombin.|HPO|N|
CN377323|The presence of autoantibodies (immunoglobulins) in the blood circulation that react against factor V.|HPO|N|
CN377324|The presence of autoantibodies (immunoglobulins) in the serum that react against factor VII.|HPO|N|
CN377325|The presence of autoantibodies (immunoglobulins) in the serum that react against factor VIII.|HPO|N|
CN377326|The presence of autoantibodies (immunoglobulins) in the serum that react against factor IX.|HPO|N|
CN377327|The presence of an antibody in the blood circulation that is directed against factor X.|HPO|N|
CN377328|The presence of an antibody in the blood circulation that is directed against factor XI.|HPO|N|
CN377329|The presence of an antibody in the blood circulation that is directed against factor XIII.|HPO|N|
CN377330|The presence of an antibody in the blood circulation that is directed against factor H.|HPO|N|
CN377331|Cool or cold arms or legs related to peripheral vasoconstriction, the narrowing of blood vessels resulting from the contraction of muscular walls in large arteries and the small arterioles of skin and most internal organs. Following exposure to low ambient temperatures, vasoconstriction decreases heat dissipation from skin surfaces, thus preventing life-threatening hypothermia.|HPO|N|
CN377333|The concentration of calprotectin in the blood circulation is above the upper limit of normal.|HPO|N|
CN377334|A soft tissue continuity in the anteroposterior axis between the toes 4 and 5.|HPO|N|
CN377335|A typical physical examination in patients with muscular dystrophies and selective weakness and atrophy of the trapezius muscle and proximal deltoid muscle. The contour of the back shows unique hills and drops.|HPO|N|
CN377336|A soft tissue continuity in the anteroposterior axis between the third to the fifth fingers that extends distally to at least the level of the proximal interphalangeal joints.|HPO|N|
CN377337|Partial dislocation of the radioulnar joint.|HPO|N|
CN377339|The presence of autoantibodies (immunoglobulins) in the blood circulation that react against the human ferritin peptide.|HPO|N|
CN377340|The concentration of L-2-hydroxyglutaric acid in the cerebrospinal fluid (CSF) is above the upper limit of normal.|HPO|N|
CN377341|Concentration of inosine triphosphate in red blood cells is above the upper limit of normal.|HPO|N|
CN377342|Activity or concentration of inosine triphosphate pyrophosphohydrolase (EC 3.6.1.19) in red blood cells below the lower limit of normal.|HPO|N|
CN377343|Concentration or activity of alpha-1,3-fucosyltransferase is below the lower limit of normal in the blood circulation.|HPO|N|
CN377344|Activity of the enzyme myeloperoxidase (EC 1.11.1.7) in neutrophils below the lower limit of normal. This feature can be measured by peroxidase cytochemistry or biochemical assays. Myeloperoxidase is a lysosomal hemoprotein located in the azurophilic granules of polymorphonuclear leukocytes and monocytes.|HPO|N|
CN377345|Activity or concentration of in the level of uroporphyrinogen III (EC 4.2.1.75) in erythrocytes below the lower limit of normal.|HPO|N|
CN377346|The relative concentration in the blood circulation of 18-hydroxycorticosterone compared to that of aldosterone is above the upper limit of normal.|HPO|N|
CN377347|The concentration of 21-deoxycortisol in the blood circulation is above the upper limit of normal.|HPO|N|
CN377348|The concentration of monolysocardiolipin related to that of cardiolipin is above the upper limit of normal. This is a functional assay that can be performed from a blood spot to diagnose Barth syndrome (OMIM:302060).|HPO|N|
CN377349|The concentration of vitamin B12 in the mother's blood during pregnancy is below the lower limit of normal.|HPO|N|
CN377350|The concentration of inibin A in the blood circulation is above the upper limit of normal.|HPO|N|
CN377351|The concentration of inhibin B in the blood circulation is above the upper limit of normal.|HPO|N|
CN377352|The concentration of lipoprotein(a) in the blood circulation is above the upper limit of normal. Lipoprotein(a), also known as apolipoprotein(A), is encoded by LPA (HGNC:6667).|HPO|N|
CN377353|The concentration of lipoprotein(a) in the blood circulation is below the lower limit of normal. Lipoprotein(a), also known as apolipoprotein(A), is encoded by LPA (HGNC:6667).|HPO|N|
CN377354|The amount of bile acids in the urine, normalized for urine concentration, is above the upper limit of normal.|HPO|N|
CN377355|The amount of bile acids in the urine, normalized for urine concentration, is outside the limits of normal.|HPO|N|
CN377356|Activity of glutathione reductase (EC 1.6.4.2) in erythrocytes below the lower limit of normal.|HPO|N|
CN377357|Failure to elevate lactate in blood washed out from ischemically exercised muscles as assayed by the forearm ischemic exercise test.|HPO|N|
CN377358|The concentration of cholestanol in the blood circulation is above the upper limit of normal. Cholestanol is the 5-alpha-dihydro derivative of cholesterol.|HPO|N|
CN377359|A medical history of having been exposed to livestock (animals such as cattle and sheep which are kept on a farm ).|HPO|N|
CN377360|Applies to an abnormality of the skin in which multiple lesions occur at the same time.|HPO|N|
CN377361|Refers to a skin lseion that has a snake-like (serpentine) shape.|HPO|N|
CN377362|The amount of an organic compound in the urine, normalized for urine concentration, is outside the limits of normal. An organic compound is defined here as a chemical compound that contains a carbon-hydrogen or carbon-carbon bond, although some other definitions exist. Examples of organic compounds includea alkanes, alkenes, alkynes, aromatic compounds, alcohols, ketones, aldehydes, carboxylic acids, and esters.|HPO|N|
CN377363|The amount of histamine in the urine, normalized for urine concentration, is above the upper limit of normal.|HPO|N|
CN377364|The amount of N-methylhistamine in the urine, normalized for urine concentration, is above the upper limit of normal.|HPO|N|
CN377365|The amount of ureidopropionic acid in the urine, normalized for urine concentration, is above the upper limit of normal.|HPO|N|
CN377367|The amount of a porphyrin compound in the urine, normalized for urine concentration, is above the upper limit of normal. Porphrins are natural pigments containing a fundamental skeleton of four pyrrole nuclei united through the alpha-positions by four methine groups to form a macrocyclic structure. Porpyrins giove rise to heme and combalamine.|HPO|N|
CN377368|The amount of a coproporphyrin in the urine, normalized for urine concentration, is above the upper limit of normal.|HPO|N|
CN377369|Applies to an abnormality of the skin that is located in or surrounding eccrine sweat glands.|HPO|N|
CN377370|Applies to an abnormality of the skin whose boundry to the surrounding normal skin is not clearly defined.|HPO|N|
CN377371|Medical history of a recent bite or scratch injury due to a cat.|HPO|N|
CN377372|A history of having been in an area with inadequate sewage sanitation in the recent past.|HPO|N|
CN377373|Detection of cutaneous herpes simplex virus nucleic acid in the skin by a method such as polymerase chain reaction. The sample is usually obtained by cutaneous swabs from skin lesions.|HPO|N|
CN377374|Detection of Mycobacterium tuberculosis nucleic acid in the cerebrospinal fluid (CSF) by a method such as polymerase chain reaction.|HPO|N|
CN377375|Growth of mycobacterium in a culture derived from cerebrospinal fluid (CSF).|HPO|N|
CN377376|The demonstration of mycobacterium by microscopy of the cerebrospinal fluid (CSF).|HPO|N|
CN377377|Detection of nucleic acid of treponema pallidum in the blood circulation by a method such a polymerase chain reaction.|HPO|N|
CN377378|Detection of nucleic acid of human immunodeficiency vrus (HIV) in the blood circulation by a methiod such as polymerase chain reaction (PCR).|HPO|N|
CN377379|Detection of enteroviral nucleic acid in the cerebrospinal fluid (CSF) by a method such as polymerase chain reaction (PCR) or reverse transcriptase (RT)-PCR.|HPO|N|
CN377380|Detection of Borrelia burgdorferi nucleic acid in the cerebrospinal fluid (CSF) by a method such as polymerase chain reaction.|HPO|N|
CN377381|Detection of arbovus nucleic acid in the cerebrospinal fluid (CSF) by a method such as polymerase chain reaction (PCR) or reverse transcriptase (RT)-PCR..|HPO|N|
CN377382|Detection of nucleic acid of Bartonella henselae in the blood circulation by a method such as polymerase chain reaction (PCR) or reverse transcriptase (RT)-PCR.|HPO|N|
CN377383|Detection of nucleic acid of the Dengue virus in the blood circulation by a method such as polymerase chain reaction (PCR) or reverse transcriptase (RT)-PCR.|HPO|N|
CN377384|Detection of JC-virus nucleic acid in the cerebrospinal fluid (CSF) by a method such as polymerase chain reaction.|HPO|N|
CN377385|Presence of malaria parasites in the peripheral blood.|HPO|N|
CN377386|Detection of nucleic acid of Plasmodium falciparum (a type of Malaria parasite) in the blood circulation by a method such as polymerase chain reaction (PCR).|HPO|N|
CN377387|Activity or concentration of fructose-1,6-bisphosphate aldolase (EC 4.1.2.13) in red blood cells below the lower limit of normal.|HPO|N|
CN377388|Concentration of Dopamine beta-hydroxylase (DBH; EC 1.14.17.1) in the blood circulation below the lower limit of normal. DBH catalyzes the oxidative hydroxylation of dopamine to norepinephrine.|HPO|N|
CN377389|Activity or concentration of bisphosphoglycerate mutase (BPGM; EC 5.4.2.4;) in red blood cells below the lower limit of normal. BPGM is a multifunctional enzyme specifically found in red blood cells that synthesizes 2,3-diphosphoglycerate through its synthase activity and degrades it through its phosphatase activity.|HPO|N|
CN377390|Activity or concentration of in the level of adenylate kinase (EC 2.7.4.3) in erythrocytes below the lower limit of normal. Adenylate kinase is a ubiquitous monomeric enzyme that catalyzes the reversible conversion of MgATP plus AMP to MgADP plus ADP and contributes to homeostasis of the adenine nucleotide composition in the cell.|HPO|N|
CN377391|Activity or concentration of hexokinase (EC 2.7.1.1) in red blood cells below the lower limit of normal. Arginase catalyzes the last step of the urea cycle.|HPO|N|
CN377392|Activity of the enzyme Carboxypeptidase N (arginine carboxypeptidase, EC 3.4.17.3) in the blood circulation below the lower limit of normal.|HPO|N|
CN377393|Activity or concentration of pyruvate kinase (EC 2.7.1.40) in erythrocytes above the upper limit of normal. Pyruvate kinase (EC 2.7.1.40) is a glycolytic enzyme that catalyzes the transphosphorylation from phosphoenolpyruvate (PEP) to ADP, yielding pyruvate and ATP.|HPO|N|
CN377394|Concentration of adenosine deaminase 2 in the blood circulation below the lower limit of normal.|HPO|N|
CN377395|Acitivity of sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase; EC 1.1.1.153) below the lower limit of normal in cultured fibroblasts.|HPO|N|
CN377396|The concentration of vasoactive intestinal peptide (VIP) in the blood circulation is above the upper limit of normal.|HPO|N|
CN377397|The concentration of cholesterol sulfate in the blood circulation is above the upper limit of normal.|HPO|N|
CN377398|The concentration of lipoprotein X in the blood circulation is above the upper limit of normal.|HPO|N|
CN377399|The concentration of oxalate in the blood circulation is above the upper limit of normal.|HPO|N|
CN377400|The concentration of ethylene glycol in the blood is above the upper limit of a guidance value for total concentrations that implies possible injurious effects.|HPO|N|
CN377401|Exaggerated indentation at the very middle (midline) of the lower lip.|HPO|N|
CN377402|Activity of thymidine phosphorylase (EC 2.4.2.4) in the tissues below the lower limit of normal. The activity can be measured in multiple tissues including leukocytes.|HPO|N|
CN377403|Activity of tripeptidyl peptidase 1 (TPP1;EC 3.4.14.9) in the tissues below the lower limit of normal. TTP1 activity can be measured in tissues including fibroblasts and leukocytes muscle.|HPO|N|
CN377404|Activity of L-arginine:glycine amidinotransferase (GATM; EC 2.1.4.1) in the tissues below the lower limit of normal. GATM activity can be measured in multiple tissues including leukocytes and cultured fibroblasts.|HPO|N|
CN377405|Activity of aspartylglucosaminidase (AGA; EC 3.5.1.26) in the tissues below the lower limit of normal. AGA activity can be measured in multiple tissues including leukocytes and cultured fibroblasts.|HPO|N|
CN377406|Activity of carnitine-acylcarnitine translocase (CACT) in tissues below the lower limit of normal. CACT activity can be measured in multiple tissues.|HPO|N|
CN377407|The activity of 6-pyruvoyltetrahydropterin synthase in the blood circulation is below the lower limit of normal.|HPO|N|
CN377408|Activity of mannosyl-oligosaccharide glucosidase (MOGS) in tissues below the lower limit of normal. MOGS activity can be measured in multiple tissues including liver and cultured fibroblasts.|HPO|N|
CN377409|Activity of the mitochondrial enzyme 3-methylglutaconyl-CoA hydratase (EC 4.2.1.18) in tissues below the lower limit of normal. The activity can be measured in multiple tissues including culutured fibroblasts.|HPO|N|
CN377410|Activity of gamma-glutamyltransferase in the tissues below the lower limit of normal. The activity can be measured in multiple tissues including leukocytes and cultured fibroblasts.|HPO|N|
CN377411|Any kind of test for an infectious agent in the oropharynx positive. The oropharynx is defined as the middle part of the throat and includes the soft palate, the side and back walls of the throat, the tonsils, and the posterior one-third of the tongue.|HPO|N|
CN377412|Detection of poliovirus nucleic acid in the oropharynx by a method such as polymerase chain reaction (PCR) or reverse transcriptase (RT)-PCR.|HPO|N|
CN377413|Any kind of test for an infectious agent in the synovial fluid (i.e., in a joint) positive.|HPO|N|
CN377414|Growth of an infectious agent in a culture derived from synovial fluid.|HPO|N|
CN377415|Demonstration of the presence of bacteria by gram staining of joint (synovial) fluid. The sample is generally obtained by arthrocentesis.|HPO|N|
CN377416|The presence of antibodies in the blood circulation that react against a component of parvovirus.|HPO|N|
CN377417|Tuberculoma results from hematogenous spread of Mycobacterium tuberculosis (M. tb) from an extracranial source. Diagnosis is based on computed tomography (CT) scan and magnetic resonance imaging (MRI) studies with a similar ring-enhancing lesion.|HPO|N|
CN377418|An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in muscle tissue.|HPO|N|
CN377419|An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in a bone.|HPO|N|
CN377421|Widening (relatively uniform increase in diameter) of a segment of the esophagus.|HPO|N|
CN377424|An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in adjacent to the spine, i.e., in a location that is normally occupied by muscles, ligaments, nerves, and other tissues that run alongside the spinal column.|HPO|N|
CN377428|Underdevelopment of the six cranial nerve (abducens nerve).|HPO|N|
CN377429|Underdevelopment of the third cranial nerve (oculomotor nerve).|HPO|N|
CN377430|Presence in the urine of succinylacetone, which is one of the toic block metabolites formed in tyrosinaemia type 1 because of a defect in the final enzyme of the pathway of the degradation of tyrosine, namely fumarylacetoacetase (FAH, EC 3.7.1.2).|HPO|N|
CN377431|The amount of 2-oxoisocaproic in the urine, normalized for urine concentration, is above the upper limit of normal.|HPO|N|
CN377432|The amount of 2-oxovaleric acid in the urine, normalized for urine concentration, is above the upper limit of normal.|HPO|N|
CN377433|The amount of 2-hydroxyisocaproic acid in the urine, normalized for urine concentration, is above the upper limit of normal.|HPO|N|
CN377434|The amount of isovalerylglycine in the urine, normalized for urine concentration, is above the upper limit of normal.|HPO|N|
CN377435|The amount of 2-methyl-3-hydroxybutyric acid in the urine, normalized for urine concentration, is above the upper limit of normal.|HPO|N|
CN377436|The amount of 3-hydroxypentanoic acid in the urine, normalized for urine concentration, is above the upper limit of normal.|HPO|N|
CN377437|The amount of 7-hydroxyoctanoic acid in the urine, normalized for urine concentration, is above the upper limit of normal.|HPO|N|
CN377438|The amount of D-glyceric acid in the urine, normalized for urine concentration, is above the upper limit of normal.|HPO|N|
CN377439|The amount of 3-hydroxyisobutyric acid in the urine, normalized for urine concentration, is above the upper limit of normal.|HPO|N|
CN377440|The amount of 3,4-Dihydroxybutyric acid in the urine, normalized for urine concentration, is above the upper limit of normal.|HPO|N|
CN377441|The amount of 3-hydroxyadipic acid in the urine, normalized for urine concentration, is above the upper limit of normal.|HPO|N|
CN377442|Concentration of galactose-1-phosphate in red blood cells (erythrocytes) above the upper level of normal.|HPO|N|
CN377443|Increased activity or concentration of the enzyme chitotriosidase. Serum chitotriosidase is a biomarker that has shown high specificity and sensitivity in patients with sarcoidosis.|HPO|N|
CN377444|Premature closure of the squamosal suture, which is one of the lateral minor skull sutures, separating the parietal and squamous temporal bones.|HPO|N|
CN377445|The size (volume) of the lungs of a fetus above the upper limit of normal for the gestational age.|HPO|N|
CN377446|An inflammatory condition localized to the orbit, presenting capillary dilatation, leukocytic infiltration, redness, heat, and pain. CT or MIR Imaging demonstrates enlargement of the muscle belly of one (or more) extraocular muscles typically with the involvement of tendinous insertions. Inflammation can also be observed in surrounding tissues, including the orbital fat, lacrimal gland, and optic nerve sheath.|HPO|N|
CN377447|Concentration or activity of inositol polyphosphate 5-phosphatase OCRL-1 as measured in cultured fibroblasts is below the limits of normal. This enzyme has phosphoinositide 5-phosphatase (EC 3.1.3.36) activity.|HPO|N|
CN377448|Activity of the gycogen debrancher enzyme (GDE) in muscle tissue is below the lower limit of normal. GDE is a large monomeric protein with two catalytic activities|HPO|N|
CN377449|Concentration or activity of uridine diphosphate glucuronosyltransferase below the lower limit of normal. The activity of this enzyme can be measured in liver and rarely in other tissues.|HPO|N|
CN377450|The presence of giant cells in the temporal artery. This is a feature of giant cell arteritis. Giant cells are multinucleated cells formed by fusion of multiple macrophages and are typically located in the intima of the arterial wall. This feature is typically demonstrated by temporal artery biopsy but other arteries may also be affected.|HPO|N|
CN377451|Activity of phosphoenolpyruvate carboxykinase (EC 4.1.1.32) is below the lower limit of normal in cultured fibroblasts.|HPO|N|
CN377452|The amount of pyrroline hydroxycarboxylic acid in the urine, normalized for urine concentration, is above the upper limit of normal.|HPO|N|
CN377453|Presence of N tau-ribosylhistidine (His-R) in the urine. His-R is a histidine derivative found in the urine of histidinemic patients.|HPO|N|
CN377454|The amount of ureidoisobutyric acid in the urine, normalized for urine concentration, is above the upper limit of normal. Ureidoisobutyric acid is increased in the urine of patients with beta-ureidopropionase (EC 3.5.1.6) deficiency.|HPO|N|
CN377455|The amount of N-carbamyl-beta-aminoisobutyric acid in the urine, normalized for urine concentration, is above the upper limit of normal.|HPO|N|
CN377456|Malignant, intraepithelial adenocarcinoma cells of variable sizes usually large in size, present singly or in the form of small groups within the epidermis of the nipple. Cells may be ovoid, round, or signet-ring forms, usually mucin positive, and the cytoplasm may contain periodic acid-Schiff (PAS)-positive, diastase-resistant granules, indicating the presence of neutral mucopolysaccharides. The cells possess microscopic features of glandular cells with pale to clear vacuolated cytoplasm, and nuclei are usually high-grade with prominent nucleoli.|HPO|N|
CN377457|Partial pressure of oxygen (pO2) in cavernous blood of the penis is below the lower limit of normal.|HPO|N|
CN377458|A history of an injury to the temporal region of the skull that occurred recently (several hours, days, or weeks before the current presenting complaint).|HPO|N|
CN377459|Rest pain is a continuous unrelenting pain due to ischemia of the lower leg, beginning with or being aggravated by elevation and being relieved by sitting with legs in a dependent position or by standing.|HPO|N|
CN377460|A lesion associated with pseudomyxoma peritonei whosetypical CT appearance is scalloping of the surface of the liver and spleen caused by loculated accumulations of mucin, which distinguishes mucin from fluid ascites. The mucinous material is similar in density to water. There are also islands of higher attenuation due to scattered solid elements and calcification within mucinous material.|HPO|N|
CN377461|Thickening of the skin around the nipple.|HPO|N|
CN377462|A breast mass visualized by sonography that displays a lower than normal echo signal (and this that appears dark gray in the typical ultrasound image).|HPO|N|
CN377464|Mesenteric torsion is a pathological rotation of the intestinal tract around the axis of the mesenteric root, resulting in rapid occlusion of the cranial mesenteric artery.|HPO|N|
CN377465|Abnormal bowel sounds of an unually high frequency.|HPO|N|
CN377466|Applied to a sign orr symptom that is worsed by administration of opiate medications.|HPO|N|
CN377467|Formation of a non-necrotizing granuloma in breat tissue typically in combination with a localized infiltrate of multi-nucleated giant cells, epithelioid histiocytes, lymphocytes, and plasma cells.|HPO|N|
CN377468|A history of exposure to fragrances found in cosmetic products.|HPO|N|
CN377469|Sweating and flushing in the preauricular area in response to mastication or a salivary stimulus. Facial warmth, flushing, and sweating in the territory of the auriculotemporal nerve overlying the parotid gland, which may include the preauricular skin, the temporal skin, the scalp, and the temporomandibular joint region. Symptoms occur during meals, especially with spicy and sour foods. This feature is inferred to be a consequence of injury to the auriculotemporal nerve, a branch if the trigeminal nerve.|HPO|N|
CN377470|Activity of glyoxylate reductase/hydroxypyruvate reductase (GRHPR; EC 1.1.1.79) in liver below the lower limit of normal.|HPO|N|
CN377471|Presence of lymphocytes with positive staining for periodic acid-Schiff (PAS) cytoplasmic vacuoles.|HPO|N|
CN377472|Bone marrow with increased numbers of macrophages heavily laden with lipids.|HPO|N|
CN377473|Increased count of monocytes in the bone marrow.|HPO|N|
CN377474|Sunflower cataract (SC) is a type of anterior subcapsular cataract almost only seen in Wilson disease, an autosomal-recessive condition with a defect in the metabolism of copper leading to accumulation of copper in the liver and basal ganglia. SC consists of a thin, centralized opacification that is located directly under the anterior capsule and encompasses between one-third and one-half of the anterior lens pole surface area. In all cases, the central opacification is surrounded by additional, secondary opacifications arranged in ray-like structures around it. This pattern is said to resemble a sunflower, with a large central disk surrounded by petals.|HPO|N|
CN377475|The presence of autoantibodies (immunoglobulins) in the blood circulation that react against lamin A.|HPO|N|
CN377476|The presence of autoantibodies in the blood circulation that react against human lamin C.|HPO|N|
CN377477|The presence of autoantibodies (immunoglobulins) in the blood circulation that react against vinculin.|HPO|N|
CN377478|The presence of autoantibodies (immunoglobulins) in the blood circulation that react against annexin A5.|HPO|N|
CN377480|A soft tissue continuity in the anteroposterior axis between the toes 3 and 4.|HPO|N|
CN377481|Nail so wide as long with a distal part presenting an acute angle.|HPO|N|
CN377482|Fusion of the distal (i.e.., located away from the trunk) part of the tibia and fibula.|HPO|N|
CN377483|Any abnormal process of ossification of the metacarpal bones, which normally are each ossified from two centers|HPO|N|
CN377484|A bony projection (spur, osteophyte) originating from a rib.|HPO|N|
CN377485|Deficient mineralization of the iliac wings, giving a paraglider/crescent shape to the iliac bone.|HPO|N|
CN377486|An abnormality of the formation and mineralization of ischial bones.|HPO|N|
CN377487|Accumulation of eosinophilic hyaline material observed around the papillary dermis and the blood vessels located in it. The papillary dermis is the uppermost layer of the dermis. It intertwines with the rete ridges of the epidermis and is composed of fine and loosely arranged collagen fibers.|HPO|N|
CN377488|A type of vasculitis (inflammation of blood vessel walls) that affects medium-sized blood vessels. By common usage, vasculitis predominantly refers to arterial disease. Medium-sized vasculitis is observed in diseases including polyarteritis nodosa, Kawasaki disease, and cutaneous polyarteritis nodosa.|HPO|N|
CN377489|A decreased amount of laminin alpha-5 in muscle tissue. This feature can be shown by immunohistochemistry or Western blotting of muscle tissue. Laminin subunit alpha-5 is a protein encoded by the LAMA5 gene.|HPO|N|
CN377490|A swelling or enlargment localized next to the vertebral column. The word mass is usually used at an early stage of the diagnostic workup before the precise nature of the swelling has been determined.|HPO|N|
CN377491|A calcified structure that forms within a vein. The pathogenesis of phleboliths is thought to involve an organized thrombus produced when the peripheral blood flow slows. The thrombus calcifies, form- ing the core of the phlebolith. Then, the fibrinous com- ponent undergoes secondary calcification and becomes attached. Repetition of this process causes enlargement of the phlebolith.|HPO|N|
CN377492|A perforation in the wall of the urinary bladder. Bladder rupture, a relatively rare condition, is most commonly due to abdominal or pelvic trauma but may be spontaneous or iatrogenic in association with surgical or endoscopic procedures. In most cases, patients with bladder rupture have gross hematuria. Other symptoms of bladder rupture include pelvic pain, lower abdominal pain, and difficulty voiding.|HPO|N|
CN377493|Increased amount of iron in myocardial tissue.|HPO|N|
CN377494|The occurrence of abnormal or absent contractility of a region of the heart muscle of the right ventricule. Conventional assessment of RWMA is based on visual interpretation of endocardial excursion and myocardial thickening from the echocardiogram videos.|HPO|N|
CN377495|A region of the right ventricle exhibits absent contraction (akinesia) compared to the rest of the ventricle.|HPO|N|
CN377496|A region of the right ventricle exhibits abnormal contraction (dyskinesia) compared to the rest of the ventricle, leading to outward bulging or ballooning during contraction or inadequate inward movement.|HPO|N|
CN377498|Accumulation of immune deposits, containing immunoglobulins, complement, and other proteins, at various intraglomerular locations. This can lead to glomerulonephritis, with the type of injury that results being dependent on four factors|HPO|N|
CN377499|Accumulation of immune deposits, containing auto-antibodies against the podocyte antigen M-type phospholipase A2 receptor (PLA2R) in intraglomerular locations.|HPO|N|
CN377500|The amount of L-glycerate in the urine, normalized for urine concentration, is above the upper limit of normal.|HPO|N|
CN377501|A rare, benign mesenchymal tumor of the breast characterized histologically by stellate, round, and spindle-shaped cells with vesicular nuclei and scant cytoplasm that are scattered in the myxoid stroma.|HPO|N|
CN377502|Any deviation from the normal concentration of N-acetylaspartic acid in the cerebrospinal fluid (CSF).|HPO|N|
CN377503|Concentration of N-acetylaspartic acid in the cerebrospinal fluid below the lower limit of normal.|HPO|N|
CN377504|The amount of mevalonate lactone in the urine, normalized for urine concentration, is above the upper limit of normal.|HPO|N|
CN377505|The presence of autoantibodies in the serum that react to von Willebrand factor (VWF).|HPO|N|
CN377506|The count of natural killer cells per volume of blood is above the upper limit of normal.|HPO|N|
CN377507|The presence of autoantibodies (immunoglobulins) in the serum that display a high degree of specificity for idiopathic inflammatory myopathy (myositis-specific autoantibodies (MSAs)). MSAs are clinically useful biomarkers to help the diagnosis of polymyositis/dermatomyositis (PM/DM). Many of these are also associated with a unique clinical subset of PM/DM, making them useful in predicting and monitoring certain clinical manifestations.|HPO|N|
CN377508|Any deviation from the normal range of the serum osmolality, defined as the sum of the osmolalities of every single dissolved particle in the blood such as sodium and associated anions, potassium, glucose, and urea.|HPO|N|
CN377509|Serum osmolality, which is defined as the sum of the osmolalities of every single dissolved particle in the blood such as sodium and associated anions, potassium, glucose, and urea, is below the lower limit of normal.|HPO|N|
CN377511|A past medical history of having been treated with tight bandages, compression sleeve, tight casts or splints, immobilizers, or similar items such as overly tight clothes, watch bands, or handcuffs.|HPO|N|
CN377512|Applies to a sign or symptom that is induced by repeatedly performing overhead motions, such as painting a ceiling or working on objects located above the head, or some types of athletics.|HPO|N|
CN377514|Opening snap is an additional sound heard in the diastole that is related to the opening of a stenotic but mobile mitral valve. It is described as an early diastolic, high-pitched sound, which is associated with opening of the mitral and/or tricuspid valve.|HPO|N|
CN377516|The concentration of C-C Motif Ligand 3 (CCL3) in the blood circulation is above the upper limit of normal.|HPO|N|
CN377517|The concentration of C-C Motif Ligand 4 (CCL4) in the blood circulation is above the upper limit of normal.|HPO|N|
CN377518|The concentration of 14-3-3 protein in the cerebrospinal fluid (CSF) is above the upper limit of normal.|HPO|N|
CN377519|Concentration of dihydrobiopterin in the cerebrospinal fluid (CSF) above the upper limit of normal.|HPO|N|
CN377520|Atrial fibrosis is an hallmark of atrial structural remodelling, characterized by the aberrant activation, proliferation and differentiation of fibroblasts, and subsequent excessive synthesis and irregular deposition of extracellular matrix proteins.|HPO|N|
CN377521|The concentration in the blood circulation of atrial natriuretic peptide pro-hormone or one of its processed fragments is outside of the range of normal.|HPO|N|
CN377522|The concentration of NT-proANP in the blood circulation is below the lower limit of normal.|HPO|N|
CN377523|The concentration of delta-1-pyrroline-5-carboxylate in the blood circulation is above the upper limit of normal.|HPO|N|
CN377524|Concentration or activity of delta-1-pyrroline-5-carboxylate dehydrogenase (P5CDH; EC 1.5.1.12) below the lower limit of normal. P5CDH can be measured in multiple tissues including leukocytes and cultured fibroblasts. P5CDH is a mitochondrial matrix NAD(+)-dependent dehydrogenase which catalyzes the second step of the proline degradation pathway, converting pyrroline-5-carboxylate to glutamate.|HPO|N|
CN377525|The concentration of N-carbamyl-beta-aminoisobutyric acid in the blood circulation is above the upper limit of normal.|HPO|N|
CN377526|Concentration or activity of Ferrochelatase (FECH; EC 4.99.1.1) below the lower limit of normal. FECH enzyme can be measured in multiple tissues including leukocytes and cultured fibroblasts. FECH is the terminal enzyme of the heme biosynthetic pathway, and catalyzes the insertion of iron into protoporphyrin to form heme.|HPO|N|
CN377527|The concentration of heptacarboxylporphyrin in the blood circulation is above the upper limit of normal.|HPO|N|
CN377528|Applied to a sign or symptom that is more severe during mensutruation.|HPO|N|
CN377529|The concentration of zink in breast milk is below the lower limit of normal.|HPO|N|
CN377530|The amount of bile acid in the urine, normalized for urine concentration, is above the upper limit of normal.|HPO|N|
CN377531|The amount of glyoxylic acid in the urine, normalized for urine concentration, is above the upper limit of normal. The conjugate base of glyoxylic acid is known as glyoxylate.|HPO|N|
CN377532|The concentration of 3-hydroxyanthranilic acid in the blood circulation is above the upper limit of normal.|HPO|N|
CN377534|Developmental and epileptic encephalopathy-115 (DEE115) is an autosomal recessive disorder characterized by severe developmental delay and epileptic encephalopathy, massive reduction of white matter, hypo-/aplasia of the corpus callosum, neurodevelopmental arrest, and early death (Brugger et al., 2024).
For general phenotypic information and a discussion of genetic heterogeneity of DEE, see 308350.|OMIM|N|
CN377536|A neurodevelopmental disorder related to biallelic variants in SPATA5L1 and characterized by a spectrum of intellectual disability, hearing loss, and motor features including spasticity, dystonia, and/or hypotonia. Other phenotypic features commonly reported with the neurodevelopmental presentation include spasticity, focal or generalized epilepsy, and microcephaly.|MONDO|N|
CN377538|Paraneoplastic syndrome that involves the endocrine system.|MONDO|N|
CN377539|Paraneoplastic syndrome that involves the hematopoietic system.|MONDO|N|
CN377540|Paraneoplastic syndrome that involves the digestive system.|MONDO|N|
CN377541|Paraneoplastic syndrome that involves the renal system.|MONDO|N|
CN377542|Any type 1 interferonopathies in which the cause of the disease is a variation in the TREX1 gene. Individuals with variants in TREX1 can present with a variety of phenotypes, including Aicardi-Goutieres syndrome, chilblain lupus, or retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations.|MONDO|N|
CN377543|Any type 1 interferonopathies in which the cause of the disease is a variation in the RNASEH2B gene. Individuals with variants in RNASEH2B can present with a variety of phenotypes, including Aicardi-Goutieres syndrome.|MONDO|N|
CN377544|Any type 1 interferonopathies in which the cause of the disease is a variation in the RNASEH2C gene. Individuals with variants in RNASEH2C can present with a variety of phenotypes, including Aicardi-Goutieres syndrome.|MONDO|N|
CN377545|Any type 1 interferonopathies in which the cause of the disease is a variation in the RNASEH2A gene. Individuals with variants in RNASEH2A can present with a variety of phenotypes, including Aicardi-Goutieres syndrome.|MONDO|N|
CN377546|Any type 1 interferonopathies in which the cause of the disease is a variation in the SAMHD1 gene. Individuals with variants in SAMHD1 can present with a variety of phenotypes, including Aicardi-Goutieres syndrome and chilblain lupus.|MONDO|N|
CN377547|Any type 1 interferonopathies in which the cause of the disease is a variation in the ADAR gene. Individuals with variants in ADAR can present with a variety of phenotypes, including Aicardi-Goutieres syndrome and dyschromatosis symmetrica hereditaria.|MONDO|N|
CN377548|Any type 1 interferonopathies in which the cause of the disease is a variation in the IFIH1 gene. Individuals with variants in IFIH1 can present with a variety of phenotypes, including Aicardi-Goutieres syndrome and singleton-Merten syndrome.|MONDO|N|
CN377549|Any type 1 interferonopathies in which the cause of the disease is a variation in the RNU7-1 gene. Individuals with variants in RNUF7-1 can present with a variety of phenotypes, including Aicardi-Goutieres syndrome.|MONDO|N|
CN377550|Paraneoplastic syndrome that involves the joints, bones, muscles, and/or connective tissue.|MONDO|N|
CN377551|Paraneoplastic syndrome that involves the integumental system.|MONDO|N|
CN377553|A medulloblastoma SHH activated that is characterized as a molecular subtype by activation of the sonic hedgehog (SHH) pathway and the presence of TP53 mutations.|MONDO|N|
CN377554|A medulloblastoma SHH activated that is characterized as a molecular subtype by activation of the sonic hedgehog (SHH) pathway and the absence of TP53 mutations.|MONDO|N|
CN377555|A medulloblastoma non-WNT/non-SHH that is characterized as a molecular subtype by absent TP53 mutations and MYC amplifications that may be present.|MONDO|N|
CN377556|A medulloblastoma non-WNT/non-SHH that is characterized as a molecular subtype by the absence of MYC amplifications and TP53 mutations, while chromosome 17 abnormalities may be present.|MONDO|N|
CN377559|A chronic asthma that is characterized by the pathophysiology phenotype combination (endotype) of early-onset allergic asthma, late-onset eosinophilic asthma, and aspirin-exacerbated respiratory disease.|MONDO|N|
CN377560|A chronic asthma that is characterized by the pathophysiology phenotype combination (endotype) of non-atopic, smoking, obesity related, and elderly and that is characterized by neutrophilic (sputum neutrophils > 40–60%) or paucigranulocytic (i.e., normal sputum levels of both eosinophils and neutrophils) inflammation and a lack of response to corticosteroid therapy.|MONDO|N|
CN377561|An acute asthma that is characterized by a respiratory arrest or arterial carbon dioxide tension greater than 50 mmHg, with or without altered consciousness, requiring mechanical ventilation.|MONDO|N|
CN377562|A chronic asthma that is characterized by significant decline in pulmonary function and increase of airway inflammation at night. During sleep, recumbent posture causes a reduction in the lung volumes, respiratory muscle tone, and lung compliance. The overnight physiological abnormalities include: increased airway inflammation and decreased steroid responsiveness, increased pulmonary capillary blood volume, functional differences in blood/air volume ratios and mechanical coupling of the parenchyma to the airways.|MONDO|N|
CN377565|An anaplastic pleomorphic xanthoastrocytoma that has material basis in BRAF mutations.|MONDO|N|
CN377566|A supratentorial ependymoma that has material basis in YAP1-MAMLD1 fusion.|MONDO|N|
CN377567|A connective tissue cancer that has material basis in LMNA-NTRK1 gene fusion.|MONDO|N|
CN377568|A connective tissue cancer that is characterized as the combination of solitary fibrous tumors and hemangiopericytomas.|MONDO|N|
CN377569|An EZB diffuse large B-cell lymphoma that expresses the double hit gene expression signature (DHITsig+) according to gene expression profiling. In addition to the features characteristic of EZB, these cases commonly, but do not always, harbour MYC translocations and DDX3X mutations.|MONDO|N|
CN377570|An EZB diffuse large B-cell lymphoma that does not express the double hit gene expression signature (DHITsig-) according to gene expression profiling. These cases tend to have few MYC translocations or DDX3X mutations.|MONDO|N|
CN377571|An EWSERI-negative small round cell tumor that is characterized by a recurrent translocation involving the CIC gene on chromosome 19 and either DUX4 gene on chromosome 4 or DUX4L gene on chromosome 10. The translocation results in either CIC-DUX4, t(4;19)(q35;q13) or CIC-DUX4L, t(10;19)(q26;q13) fusions.|MONDO|N|
CN377572|A suptratentorial ependymoma that is characterized by the presence of a fusion gene involving ZFTA gene.|MONDO|N|
CN377573|A supratentorial ependymoma that is characterized by the presence of a fusion gene involving YAP1 gene.|MONDO|N|
CN377574|A posterior fossa ependymoma that arises in the posterior fossa with characteristic DNA methylation patterns, including CpG island hypermethylation, global DNA hypomethylation, reduction of nuclear H3 p.K28me3 (K27me3) expression, and EZHIP overexpression.|MONDO|N|
CN377575|A posterior fossa ependymoma that arises in the posterior fossa with characteristic DNA methylation patterns including retention of nuclear H3 p.K28me3 (K27me3) expression, absence of CpG island hypermethylation, absence of global DNA hypomethylation, and absence of EZHIP overexpression.|MONDO|N|
CN377578|An IDH-mutant, and 1p/19q-codeleted oligodendroglioma that is characterized as a well differentiated tumor lacking anaplastic features (brisk mitotic activity, microvascular proliferation, necrosis).|MONDO|N|
CN377579|An IDH-mutant, and 1p/19q-codeleted oligodendroglioma that is characterized as grade 3 tumors associated with a more rapid growth. Grade 3 tumors appear to have abnormalities on chromosomes 9 or 10, along with unusual amounts of growth factors and proteins, which are thought to contribute to the more rapid growth of these gliomas.|MONDO|N|
CN377580|A histone mutated tumor that has material basis in mutations in codon 34 of the H3 histone family 3A protein.|MONDO|N|
CN377581|A cytochrome-c oxidase deficiency disease characterized by localization to tissues of the skeletal muscles.|MONDO|N|
CN377582|A steatotic liver disease characterized by at least one of the five cardiometabolic risk factors for MASLD and alcohol consumption of 140-350g/week (females) or 210-420g/week (males). This disease is distinguished from MASLD by increased alcohol consumption and from ALD by the evidence of one or more of the MASLD cardiometabolic risk factors.|MONDO|N|
CN377583|An inflammatory and toxic neuropathy that is characaterized by a collection of neuropsychological symptoms associated with repeated organophosphate pesticide exposure as well as nerve agent exposure. Symptoms can appear weeks after exposure and include muscle weakness, anxiety, depression, psychosis as well as cognitive and memory deficits.|MONDO|N|
CN377584|A very rare non-dysraphic spinal cord lipoma characterized by being located within the spinal cord. There is no defect in the overlying dura.|MONDO|N|
CN377586|A rare subtype of hemochromatosis characterized by the combination of pathogenic variants in two genes involved in iron metabolism (usually a combination of HFE and non-HFE mutations), where the classical HFE-related hemochromatosis is not enough to fully explain the clinical picture of the patient.|MONDO|N|
CN377605|A B-lymphoblastic leukemia/lymphoma that is associated with PAX5 P80R mutation.|MONDO|N|
CN377606|A B lymphoblastic leukemia/lymphoma that is associated with DUX4 gene rearrangement.|MONDO|N|
CN377612|A rare group of closed spinal dysraphisms characterized by the presence of a stalk connecting the skin to the underlying spinal cord. The stalk contains variable combinations of non-functional neural tissue, fibrous mesenchymal tissue, and dermal/epidermal elements.|MONDO|N|
CN377613|A rare group of spinal cord lipoma characterized by the presence of extramedullary lipomatous mass located at any point along the spinal cord with or without a dural defect.|MONDO|N|
CN377626|Autosomal recessive intellectual developmental disorder-82 (MRT82) is characterized by global developmental delay with motor and speech delay, variably impaired intellectual development, and behavioral abnormalities (Mattioli et al., 2023).|OMIM|N|
CN377627|Neurodevelopmental disorder plus optic atrophy (NEDOA) is an autosomal recessive disorder characterized by impaired intellectual development and childhood-onset optic atrophy or ataxia (Brugger et al., 2024).|OMIM|N|
CN377628|An instance of narcolepsy that is caused by an inherited genomic modification in an individual.|MONDO|N|
CN377633|A histone mutated tumor that is characterized by the presence of histone H3 K27M mutation located throughout the midline structures of the central nervous system.|MONDO|N|
CN377634|Neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder (NEDLAAD) is characterized by speech delay and language difficulties, behavioral abnormalities, and variably impaired intellectual development (in most patients). Additional features seen in some patients include motor delay, mild distal skeletal anomalies, mild ocular anomalies, and mild nonspecific dysmorphic features (Pavinato et al., 2023).|OMIM|N|
CN377635|A malignant neoplasm involving the internal ear.|MONDO|N|
CN377636|Autosomal recessive idiopathic basal ganglia calcification-9 (IBGC9) is characterized by a combination of features including ataxia, parkinsonism, headache, and psychiatric and cognitive deficits, with high intrafamilial phenotypic variability and age at onset (Chelban et al., 2024).|OMIM|N|
CN377639|Autosomal recessive deafness-124 (DFNB124) is characterized by congenital nonsyndromic progressive sensorineural hearing loss (Redfield et al., 2024).|OMIM|N|
CN377640|Neurodevelopmental disorder with progressive movement abnormalities (NEDPM) is an autosomal recessive complex neurologic disorder characterized by global developmental delay apparent from infancy, moderately to severely impaired intellectual development, poor or absent speech, behavioral abnormalities, and various hyperkinetic movement disorders, including dystonia, spasticity, and cerebellar ataxia, that interfere with gait and cause a stooped posture. The disorder appears to be progressive with age-related deterioration of cognitive and motor function; parkinsonism may develop in older patients. Additional more variable features include seizures, dysmorphic facial features, oculomotor defects, and brain imaging abnormalities (Kaiyrzhanov et al., 2024).|OMIM|N|
CN377641|Aplasia cutis-enamel dysplasia syndrome (ACED) is characterized by localized scalp aplasia, dental enamel anomalies, and a relatively mild neurodevelopmental disorder. A skull defect underlying the scalp aplasia has been reported in some patients (Cospain et al., 2022).|OMIM|N|
CN377642|Otosclerosis-12 (OTSC12) is characterized by progressive hearing loss resulting from abnormal bone remodeling (summary by Drabkin et al., 2024).
For a general phenotypic description and discussion of genetic heterogeneity of otosclerosis, see OTSC1 (166800).|OMIM|N|
CN377643|Proteasome-associated autoinflammatory syndrome-6 (PRAAS6) is characterized by a proteasome-associated autoinflammatory syndrome with immunodeficiency (Kanazawa et al., 2021).|OMIM|N|
CN377644|Autoinflammation with episodic fever and immune dysregulation (AIFID) is an autosomal recessive disorder characterized by recurrent fever and autoinflammation affecting various organ systems. The onset of symptoms is in infancy or early childhood. Clinical features are highly variable and may include lymphadenopathy, inflammation of the joints, gastrointestinal inflammation, and parotitis. Laboratory studies show leukocytosis, often with neutrophilia, and inflammatory markers (C-reactive protein, 123260; erythrocyte sedimentation rate (ESR)), but immunoglobulins and other immune cells are essentially normal, and autoantibodies are not present. The features are consistent with immune dysregulation; some patients may have symptoms of mild immunodeficiency, such as chronic otitis media. Treatment with TNF (191160) inhibitors may result in significant clinical improvement (Oda et al., 2024).|OMIM|N|
CN377645|Neurodevelopmental disorder with hypotonia and seizures (NEDHS) is an autosomal recessive disorder characterized by hypotonia apparent from early infancy, global developmental delay with severely impaired intellectual development, and early-onset seizures. Heterozygous mutation carriers show a milder neurocognitive disorder with learning disabilities, similar to chromosome 15q13.3 deletion syndrome (Garret et al., 2020; Suzuki et al., 2021).|OMIM|N|
CN377646|A skin carcinoma that is characterized by infiltration of the skin by neoplastic large cells with abundant pale cytoplasm and large nuclei with prominent nucleoli.|MONDO|N|
CN377647|A carcinoma that involves the bone element.|MONDO|N|
CN377648|A fibrolamellar carcinoma that is characterized by the presence of both pure fibrolamellar hepatocellular carcinoma and and conventional hepatocellular carcinoma components.|MONDO|N|
CN377649|Deficiency of janus kinase-3 causing the near absence of T lymphocytes and Natural killer cells; and normal or elevated B lymphocytes due to an autosomal recessive variant of severe combined immunodeficiency.|MONDO|N|
CN377650|A disease affecting a single peripheral nerve of the upper limb.|MONDO|N|
CN377653|A gestational choriocarcinoma that involves the body of uterus.|MONDO|N|
CN377654|A malignant neoplasm involving the auditory system|MONDO|N|
CN377655|Aggressive nodal or extranodal mature (peripheral) T-cell lymphomas that do not belong to the better defined entities of the remainder of mature T-cell lymphomas. This category includes the following variants: lymphoepithelioid cell variant (Lennert's lymphoma), follicular variant, and T-zone variant.|MONDO|N|
CN377656|A carcinoma in situ involving a bile duct.|MONDO|N|
CN377658|An inherited metabolic disease that is has its basis in the disruption of vitamin metabolic process.|MONDO|N|
CN377659|A rare soft tissue neoplasm that displays a perivascular pattern of spindle-to-ovoid cell proliferation.|MONDO|N|
CN377661|A disease that involves the visual system.|MONDO|N|
CN377662|An autoimmune form of cardiomyopathy.|MONDO|N|
CN377663|A subtype of breast cancer that is estrogen-receptor negative|MONDO|N|
CN377664|A disease that has its basis in the disruption of cellular amino acid metabolic process.|MONDO|N|
CN377666|A dystonia that involves two or more unrelated body parts.|MONDO|N|
CN377667|A mixed germ cell cancer that is located in areas of the body other than the ovary or testicle.|MONDO|N|
CN377668|A relatively uncommon neuroblastoma that is found in the neck.|MONDO|N|
CN377669|A hypersensitivity reaction type II disease that involves the exocrine system.|MONDO|N|
CN377670|An autoimmune form of otorhinolaryngologic disease.|MONDO|N|
CN377671|An agnosia that is a loss of motion perception.|MONDO|N|
CN377672|An agnosia that is a loss of the ability to distinguish visual shapes.|MONDO|N|
CN377673|An agnosia that is a loss of the ability to recognize visual scenes or classes of objects but retain the abilty to describe them.|MONDO|N|
CN377674|Agnosia characterized by the inability to integrate perceptual wholes within knowledge.|MONDO|N|
CN377675|An agnosia that is a loss of the ability to acknowledge objects in the neglected field that are visible when a mirror reflects the object visible in the non-neglected field.|MONDO|N|
CN377676|An agnosia that is a loss of the ability to recognize familiar voices.|MONDO|N|
CN377677|A syndrome that involves abnormality of collagen synthesis in lamellar bones, with manifestations limited to the skeleton. The initial symptom is frequently spontaneous fractures.|MONDO|N|
CN377678|An autoimmune form of optic neuritis.|MONDO|N|
CN377679|A infiltrating urothelial carcinoma that involves the renal pelvis.|MONDO|N|
CN377680|A ameloblastoma that involves the bone tissue.|MONDO|N|
CN377681|A chondroma that involves the phalanx.|MONDO|N|
CN377682|A synpolydactyly that is not part of a larger syndrome.|MONDO|N|
CN377683|An epilepsy syndrome that has an onset during variable ages and stages of life.|MONDO|N|
CN377685|A malignant form of pleural solitary fibrous tumor.|MONDO|N|
CN377686|An electroclinical syndrome with onset in the neonatal period less than 44 weeks of gestational age.|MONDO|N|
CN377687|An electroclinical syndrome with onset in infancy occurring between birth and one year of age.|MONDO|N|
CN377688|A electroclinical syndrome that occurs during childhood.|MONDO|N|
CN377689|An electroclinical syndrome with onset in adolescence and adulthood.|MONDO|N|
CN377690|An inherited metabolic disease that is has its basis in the disruption of L-serine biosynthetic process.|MONDO|N|
CN377692|A squamous cell carcinoma that involves the bone tissue.|MONDO|N|
CN377693|A medulloblastoma that involves the brainstem.|MONDO|N|
CN377694|A hypersensitivity reaction type II disease that involves the central nervous system.|MONDO|N|
CN377695|A hypersensitivity reaction type II disease that involves the cardiovascular system.|MONDO|N|
CN377696|A malignant neoplasm involving the immune system|MONDO|N|
CN377697|A malignant neoplasm involving the integumental system|MONDO|N|
CN377698|A adenoid cystic carcinoma that involves the lymph node.|MONDO|N|
CN377699|An embryonal rhabdomyosarcoma located in the parameningeal region.|MONDO|N|
CN377700|A chromosomal disorder consisting of the absence of a part of a chromosome.|MONDO|N|
CN377701|An epilepsy syndrome that is a group of clinical entities showing a cluster of electro-clinical characteristics, classified according to age at onset, cognitive and developmental antecedents and consequences, motor and sensory examinations, EEG features, provoking or triggering factors, and patterns of seizure occurrence with respect to sleep.|MONDO|N|
CN377702|A oligodendroglioma that involves the corpus callosum.|MONDO|N|
CN377703|A rhabdoid tumor that involves the striated muscle tissue.|MONDO|N|
CN377704|A endometrial carcinoma (disease) that involves the body of uterus.|MONDO|N|
CN377706|A hypersensitivity reaction type II disease that involves the musculoskeletal system.|MONDO|N|
CN377707|A hypersensitivity reaction type II disease that involves the peripheral nervous system.|MONDO|N|
CN377708|A benign neoplasm that involves the immune organ.|MONDO|N|
CN377709|A benign neoplasm that involves the sense organ.|MONDO|N|
CN377710|A malignant neoplasm involving the sensory system|MONDO|N|
CN377711|A benign neoplasm that involves the integumental system.|MONDO|N|
CN377712|An agnosia that is a loss of the ability to perceive facial expression, body language and intonation, rendering them unable to non-verbally perceive people's emotions and limiting that aspect of social interaction.|MONDO|N|
CN377714|A specific developmental disorder that is characterized by physical, behavioral and learning birth defects resulting from maternal ingestion of nicotine during pregnancy.|MONDO|N|
CN377718|A carcinoma that arises from epithelial cells of the adrenal medulla|MONDO|N|
CN377720|A malignant neoplasm involving the upper lip.|MONDO|N|
CN377721|Subsets of breast carcinoma defined by expression of genes characteristic of luminal epithelial cells.|MONDO|N|
CN377722|Developmental and epileptic encephalopathy-116 (DEE116) is an autosomal dominant disorder characterized by severe developmental delay, seizures, and white matter abnormalities but normal plasma and cerebrospinal fluid biochemistry (Jones et al., 2024).|OMIM|N|
CN377723|An instance of mineral metabolism disease that is acquired during the lifetime of the individual.|MONDO|N|
CN377724|An instance of lactic acidosis that is acquired during the lifetime of the individual.|MONDO|N|
CN377726|A diarrhea that results from increased motility in the bowel; significant increases in bowel motility can deliver excessively large volumes of stool to the colon. Diarrhea can result when the maximum colonic absorptive capacity of 4 liters a day is exceeded. Also, an alteration in colonic motility such that bowel contents are emptied before adequate absorption can occur has been offered as a possible explanation for the diarrhea associated with irritable bowel disease.|MONDO|N|
CN377727|Any disorder that features disrupted cell proliferation. Includes hyperplasia, neoplastic syndrome and isolated neoplasm diseases as well as precancerous conditions.|MONDO|N|
CN377728|A sarcoma that involves the bile duct.|MONDO|N|
CN377729|A malignant form of peritoneal solitary fibrous tumor.|MONDO|N|
CN377730|A rare, serous adenocarcinoma that arises from the lining of the peritoneum. It affects females. The clinical behavior and pathologic characteristics are similar to the serous adenocarcinoma that arises from the ovary.|MONDO|N|
CN417141|Atazanavir is an antiretroviral of the protease inhibitor (PI) class that is used to treat human immunodeficiency virus (HIV). Atazanavir is typically given with a pharmacokinetic enhancer such as cobicistat or ritonavir and is prescribed as part of a regimen with other antiretrovirals. Atazanavir inhibits uridine diphosphate glucuronosyltransferase (UGT)1A1 (UGT1A1)- mediated glucuronidation of bilirubin, and causes plasma indirect bilirubin concentrations to increase. Although indirect elevations in bilirubin do not necessarily indicate hepatic injury they may cause jaundice. Specific UGT1A1 mutations that reduce UGT1A1 function, particularly in the homozygous state, may greatly increase the likelihood that a patient prescribed atazanavir will develop hyperbilirubinemia and jaundice, and may increase a patient’s risk of non-adherence. Alternative antiretroviral regiments should be recommended for these patients, unless the reasons to prescribe atazanavir are compelling, or the patient is unconcerned about jaundice. Patients with one decreased function UGT1A1 allele have a much lower likelihood of developing jaundice if prescribed atazanavir and although the likelihood of developing jaundice is low, it is recommended that the possibility be discussed with the patient. Therapeutic recommendations for prescribing atazanavir based on an individual’s UGT1A1 genotype have been published in Clinical Pharmacology and Therapeutics by the Clinical Pharmacogenetics Implementation Consortium (CPIC) and are available on the PharmGKB website.|PharmGKB|N|
CN417142|Ondansetron and tropisetron are highly specific and selective members of the 5-HT3 receptor antagonists and are used for the prevention of chemotherapy-induced, radiation-induced and postoperative nausea and vomiting.  While tropisetron is extensively metabolized by CYP2D6 to inactive metabolites, ondansetron is metabolized by multiple cytochrome P450 enzymes including CYP3A4, CYP1A2 and CYP2D6, though there is substantial data to support a major role of CYP2D6 in ondansetron metabolism.  For both drugs, there is evidence linking the CYP2D6 genotype with phenotypic variability in drug efficacy.  CYP2D6 ultrarapid metabolizers may have increased metabolism of the drugs, resulting in decreased drug efficacy.  There are suitable alternatives to ondansetron and tropisetron that are not affected by CYP2D6 metabolism.  Therapeutic guidelines for ondansetron and tropisetron based on CYP2D6 genotype have been published in Clinical Pharmacology and Therapeutics by the Clinical Pharmacogenetics Implementation Consortium (CPIC) and are available on the PharmGKB website.|PharmGKB|N|
CN417143|Ondansetron and tropisetron are highly specific and selective members of the 5-HT3 receptor antagonists and are used for the prevention of chemotherapy-induced, radiation-induced and postoperative nausea and vomiting.  While tropisetron is extensively metabolized by CYP2D6 to inactive metabolites, ondansetron is metabolized by multiple cytochrome P450 enzymes including CYP3A4, CYP1A2 and CYP2D6, though there is substantial data to support a major role of CYP2D6 in ondansetron metabolism.  For both drugs, there is evidence linking the CYP2D6 genotype with phenotypic variability in drug efficacy.  CYP2D6 ultrarapid metabolizers may have increased metabolism of the drugs, resulting in decreased drug efficacy.  There are suitable alternatives to ondansetron and tropisetron that are not affected by CYP2D6 metabolism.  Therapeutic guidelines for ondansetron and tropisetron based on CYP2D6 genotype have been published in Clinical Pharmacology and Therapeutics by the Clinical Pharmacogenetics Implementation Consortium (CPIC) and are available on the PharmGKB website.|PharmGKB|N|
CN427420|Eliglustat is a glucosylceramide synthase inhibitor used in the treatment of Gaucher disease (GD). Eliglustat is indicated for the long-term treatment of adult individuals with Gaucher disease type 1 (GD1) who are CYP2D6 normal metabolizers, intermediate metabolizers, or poor metabolizers as detected by an FDA-cleared test. Gaucher disease is an autosomal recessive metabolic disorder characterized by accumulation of glucosylceramide (a sphingolipid also known as glucocerebroside) within lysosomes. This is caused by a malfunction of the enzyme acid beta-glucosidase, encoded by the gene GBA. Type 1 GD may present in childhood or adulthood with symptoms including bone disease, hepatosplenomegaly, thrombocytopenia, anemia and lung disease and –– unlike Gaucher types 2 and 3 –– does not directly affect the central nervous system primarily.  Eliglustat, a ceramide mimic, inhibits the enzyme that synthesizes glucosylceramides (UDP-Glucose Ceramide Glucosyltransferase), thereby reducing the accumulation of these lipids in the lysosome.
Eliglustat is broken down to inactive metabolites by CYP2D6 and, to a lesser extent, CYP3A. The dosage of eliglustat is based on the individual’s CYP2D6 metabolizer status. Individuals with normal CYP2D6 activity are termed normal metabolizers (NM), those with reduced activity are termed intermediate metabolizers (IM), and if activity is absent, poor metabolizers (PM). The FDA-approved drug label for eliglustat provides specific dosage guidelines based on their CYP2D6 status and concomitant usage of CYP2D6 or CYP3A inhibitors, and states that hepatic and renal function should also be considered when determining the appropriate dosage. The label also states that CYP2D6 ultrarapid metabolizers (UM) may not achieve adequate concentrations of eliglustat for a therapeutic effect, and that for individuals for whom a CYP2D6 genotype cannot be determined, a specific dosage cannot be recommended. Dosing recommendations for eliglustat have also been published by the Dutch Pharmacogenetics Working Group (DPWG) based on CYP2D6 metabolizer type and include dose adjustments for dosing eliglustat with medications that alter CYP2D6 and or CYP3A function.|Medical Genetics Summaries|N|
CN456489|Clobazam is approved by the FDA to treat seizures associated with Lennox-Gastaut syndrome (LGS) in patients aged 2 years and older. The drug is widely used in the chronic treatment of focal and generalized seizures, and has application in the treatment of diverse epilepsy syndromes, including epileptic encephalopathies other than LGS, such as Dravet syndrome.
Lennox-Gastaut syndrome is characterized by different types of seizures that typically begin in early childhood and may be associated with intellectual disability. Clobazam has been shown in controlled clinical trials to reduce drop (atonic) seizures in children with LGS, but there is evidence that it is effective for other seizure types as well.
Clobazam is a 1,5-benzodiazepine that acts as a positive allosteric modulator of GABAA receptors. It is often used in combination with other drugs, including stiripentol, cannabidiol, and many others.
Clobazam is extensively metabolized in the liver by cytochrome P450 (CYP) and non-CYP transformations. The major metabolite is N-desmethylclobazam (norclobazam), which has similar activity to clobazam on GABAA receptors and is an active antiseizure agent. During chronic treatment, levels of norclobazam are 8–20 times higher than those of the parent drug so that seizure protection during chronic therapy is mainly due to this metabolite.
Norclobazam is principally metabolized by CYP2C19. Individuals who lack CYP2C19 activity (“CYP2C19 poor metabolizers”) have higher plasma levels of norclobazam and are at an increased risk of adverse effects.
The FDA-approved drug label states that for patients known to be CYP2C19 poor metabolizers, the starting dose of clobazam should be 5 mg/day. Dose titration should proceed slowly according to weight, but to half the standard recommended doses, as tolerated. If necessary and based upon clinical response, an additional titration to the maximum dose (20 mg/day or 40 mg/day, depending on the weight group) may be started on day 21.|Medical Genetics Summaries|N|
CN474477|Proton pump inhibitors (PPIs) inhibit the final pathway of acid production, which leads to inhibition of gastric acid secretion. PPIs are widely used in the treatment and prevention of many conditions including gastroesophageal reflux disease, gastric and duodenal ulcers, erosive esophagitis, H. pylori infection, and pathological hypersecretory conditions. The first-generation inhibitors omeprazole, lansoprazole and pantoprazole are extensively metabolized by the cytochrome P450 isoform CYP2C19 and to a lesser extent by CYP3A4. The second-generation PPI dexlansoprazole appears to share a similar metabolic pathway to lansoprazole. CYP2C19 genotypes have been linked to PPI exposure and in turn to PPI efficacy and adverse effects. CYP2C19 intermediate (IMs) and poor metabolizers (PMs) have been associated with decreased clearance and increased plasma concentrations of the first-generation PPIs, which leads to increased treatment success compared to CYP2C19 normal metabolizers (NMs). However, higher exposure and long-term use of PPIs have also been associated with adverse effects. CYP2C19 ultrarapid (UMs) and rapid metabolizers (RMs) have shown increased metabolism compared to NMs, which may increase the risk of treatment failure. Guidelines regarding the use of pharmacogenomic tests in dosing for PPIs have been published in Clinical Pharmacology and Therapeutics by the Clinical Pharmacogenetics Implementation Consortium (CPIC) and are available on the CPIC and PharmGKB websites. The CPIC guideline provides specific therapeutic recommendations for four PPIs (omeprazole, lansoprazole, pantoprazole, and dexlansoprazole) based on CYP2C19 genotype.|PharmGKB|N|
CN474478|Proton pump inhibitors (PPIs) inhibit the final pathway of acid production, which leads to inhibition of gastric acid secretion. PPIs are widely used in the treatment and prevention of many conditions including gastroesophageal reflux disease, gastric and duodenal ulcers, erosive esophagitis, H. pylori infection, and pathological hypersecretory conditions. The first-generation inhibitors omeprazole, lansoprazole and pantoprazole are extensively metabolized by the cytochrome P450 isoform CYP2C19 and to a lesser extent by CYP3A4. The second-generation PPI dexlansoprazole appears to share a similar metabolic pathway to lansoprazole. CYP2C19 genotypes have been linked to PPI exposure and in turn to PPI efficacy and adverse effects. CYP2C19 intermediate (IMs) and poor metabolizers (PMs) have been associated with decreased clearance and increased plasma concentrations of the first-generation PPIs, which leads to increased treatment success compared to CYP2C19 normal metabolizers (NMs). However, higher exposure and long-term use of PPIs have also been associated with adverse effects. CYP2C19 ultrarapid (UMs) and rapid metabolizers (RMs) have shown increased metabolism compared to NMs, which may increase the risk of treatment failure. Guidelines regarding the use of pharmacogenomic tests in dosing for PPIs have been published in Clinical Pharmacology and Therapeutics by the Clinical Pharmacogenetics Implementation Consortium (CPIC) and are available on the CPIC and PharmGKB websites. The CPIC guideline provides specific therapeutic recommendations for four PPIs (omeprazole, lansoprazole, pantoprazole, and dexlansoprazole) based on CYP2C19 genotype.|PharmGKB|N|
CN474479|Proton pump inhibitors (PPIs) inhibit the final pathway of acid production, which leads to inhibition of gastric acid secretion. PPIs are widely used in the treatment and prevention of many conditions including gastroesophageal reflux disease, gastric and duodenal ulcers, erosive esophagitis, H. pylori infection, and pathological hypersecretory conditions. The first-generation inhibitors omeprazole, lansoprazole and pantoprazole are extensively metabolized by the cytochrome P450 isoform CYP2C19 and to a lesser extent by CYP3A4. The second-generation PPI dexlansoprazole appears to share a similar metabolic pathway to lansoprazole. CYP2C19 genotypes have been linked to PPI exposure and in turn to PPI efficacy and adverse effects. CYP2C19 intermediate (IMs) and poor metabolizers (PMs) have been associated with decreased clearance and increased plasma concentrations of the first-generation PPIs, which leads to increased treatment success compared to CYP2C19 normal metabolizers (NMs). However, higher exposure and long-term use of PPIs have also been associated with adverse effects. CYP2C19 ultrarapid (UMs) and rapid metabolizers (RMs) have shown increased metabolism compared to NMs, which may increase the risk of treatment failure. Guidelines regarding the use of pharmacogenomic tests in dosing for PPIs have been published in Clinical Pharmacology and Therapeutics by the Clinical Pharmacogenetics Implementation Consortium (CPIC) and are available on the CPIC and PharmGKB websites. The CPIC guideline provides specific therapeutic recommendations for four PPIs (omeprazole, lansoprazole, pantoprazole, and dexlansoprazole) based on CYP2C19 genotype.|PharmGKB|N|
CN507895|Flibanserin is indicated for the treatment of “hypoactive sexual desire disorder” (HSDD) in premenopausal women. It is the first drug to be approved by the FDA for female sexual dysfunction. Flibanserin acts on central serotonin receptors and was initially developed to be an antidepressant. Although it was not effective for depression, flibanserin did appear to increase sex drive.
The use of flibanserin is limited by modest efficacy and the risk of severe hypotension and syncope (fainting). This risk is increased by alcohol, and by medications that inhibit CYP3A4 (the primary enzyme that metabolizes flibanserin). Consequently, alcohol use is contraindicated during flibanserin therapy, and flibanserin is contraindicated in individuals taking moderate or strong CYP3A4 inhibitors, which include several antibiotics, antiviral agents, cardiac drugs, and grapefruit juice.
The CYP2C19 enzyme also contributes to the metabolism of flibanserin, and individuals who lack CYP2C19 activity (“CYP2C19 poor metabolizers”) have a higher exposure to flibanserin than normal metabolizers.
The risk of hypotension, syncope, and CNS depression may be increased in individuals who are CYP2C19 poor metabolizers, according to the FDA-approved drug label, which also states that approximately 2–5% of Caucasians and Africans and 2–15% of Asians are CYP2C19 poor metabolizers. However, the drug label does not provide alternative dosing for poor metabolizers. The standard recommended dosage of flibanserin is 100 mg once per day, taken at bedtime.|Medical Genetics Summaries|N|
CN533582|Nonsteroidal Anti-inflammatory Drugs (NSAIDs) are among the most commonly prescribed drugs to treat pain, fever and inflammation. The main therapeutic effect of NSAIDs occurs via blocking the production of prostaglandin that cause inflammation. Hepatic metabolism by cytochrome P450 isoforms CYP2C9, 1A2, and 3A4, and renal excretion are the principal routes of clearance of the majority of NSAIDs.  Genetic variants in CYP2C9 (e.g., CYP2C9*2 and *3), along with other genetics and clinical factors, have been shown to affect systemic plasma concentrations of NSAIDs and potentially safety. Patients with CYP2C9 decreased or no function alleles may have elevated exposure and at increased risk for adverse effects. Guidelines regarding the use of pharmacogenomic tests in dosing for NSAIDs have been published in Clinical Pharmacology and Therapeutics by the Clinical Pharmacogenetics Implementation Consortium (CPIC) and are available on the CPIC and PharmGKB websites. The CPIC guideline provides specific therapeutic recommendations for a number of NSAIDs (celecoxib, flurbiprofen, ibuprofen, lornoxicam, meloxicam, piroxicam and tenoxicam) based on CYP2C9 genotype.|PharmGKB|N|
CN575653|Pegloticase is used to treat the high levels of uric acid associated with refractory gout. The use of pegloticase is reserved for individuals with symptomatic, chronic gout who have not responded to, or are unable to take, conventional gout treatments. Pegloticase is given once every 2 weeks as an intravenous infusion, and is given in a healthcare setting that is prepared to manage infusion reactions and anaphylaxis.
Pegloticase is a pegylated urate oxidase – a modified version of the enzyme that catalyzes the oxidation of uric acid to 5-hydroxyisourate and hydrogen peroxide in most mammalian species. However, urate oxidase is not active in humans due to an inactivating mutation in the gene. Subsequent hydrolysis and decarboxylation of 5-hydroxyisourate leads to the formation of a more soluble metabolite (allantoin), which is then excreted by the kidneys. 
Red blood cells that lack the glucose-6-phosphate dehydrogenase (G6PD) enzyme are sensitive to oxidative damage caused by agents like hydrogen peroxide. Once exposed, the red blood cells become rigid, trapped, and are rapidly broken down (hemolysis). This can lead to a deficiency of mature red blood cells (hemolytic anemia) and the production of red blood cells with abnormally high levels of methemoglobin (methemoglobinemia). 
Approximately 400 million people worldwide have G6PD deficiency. Most of these individuals are asymptomatic. However, they are at risk of life-threating hemolytic reactions and methemoglobinemia if given oxidizing drugs such as pegloticase. 
Pegloticase is contraindicated in individuals with G6PD deficiency. The FDA-approved label states that individuals at higher risk for G6PD deficiency should be screened before starting pegloticase therapy, with specific examples including individuals of African, Mediterranean (including Southern European and Middle Eastern), and South Asian ancestry. Importantly, approximately 12% of African-Americans have G6PD deficiency.|Medical Genetics Summaries|N|
CN580795|A disease involving the renal glomerulus.|MONDO|N|
CN580796|Kidney stones (also called renal stones or urinary stones) are small, hard deposits that form in one or both kidneys; the stones are made up of minerals or other compounds found in urine. Kidney stones vary in size, shape, and color. To be cleared from the body (or "passed"), the stones need to travel through ducts that carry urine from the kidneys to the bladder (ureters) and be excreted. Depending on their size, kidney stones generally take days to weeks to pass out of the body.\n\nKidney stones can cause abdominal or back pain (known as renal colic). Renal colic usually begins sporadically but then becomes constant and can lead to nausea and vomiting. The site of pain can change as the stone moves through the urinary tract. Some small stones pass through the kidney and urinary tract with little discomfort, while larger ones can block the flow of urine and impair kidney function. Kidney stones can also result in blood in the urine (hematuria) or kidney or urinary tract infections. Unusually large stones or stones that are difficult to pass can be medically removed.\n\nAlthough there are many types of kidney stones, four main types are classified by the material they are made of. Up to 75 percent of all kidney stones are composed primarily of calcium. Stones can also be made up of uric acid (a normal waste product), cystine (a protein building block), or struvite (a phosphate mineral). Stones form when there is more of the compound in the urine than can be dissolved. This imbalance can occur when there is an increased amount of the material in the urine, a reduced amount of liquid urine, or a combination of both.\n\nPeople are most likely to develop kidney stones between ages 40 and 60, though the stones can appear at any age. Research shows that 35 to 50 percent of people who have one kidney stone will develop additional stones, usually within 10 years of the first stone.|MedlinePlus Genetics|N|
CN781941|Brivaracetam (brand name Briviact) is an antiseizure drug used in the treatment of partial-onset (focal) epilepsy in adults. It is thought to act by binding to a synaptic vesicle glycoprotein, SV2A, and reducing the release of neurotransmitters. 
Brivaracetam is primarily metabolized by hydrolysis, via amidase enzymes, to an inactive metabolite. To a lesser extent, it is also metabolized by a minor metabolic pathway via CYP2C19-dependent hydroxylation. Individuals who have no CYP2C19 enzyme activity, "CYP2C19 poor metabolizers", will have a greater exposure to standard doses of brivaracetam. Because they are less able to metabolize the drug to its inactive form for excretion, they may have an increased risk of adverse effects. The most common adverse effects of brivaracetam therapy include sedation, fatigue, dizziness, and nausea. The recommended starting dosage for brivaracetam monotherapy or adjunctive therapy is 50 mg twice daily (100 mg per day). Based on how the individual responds, the dose of brivaracetam may be decreased to 25 mg twice daily (50 mg per day) or increased up to 100 mg twice daily (200 mg per day). The FDA-approved drug label for brivaracetam states that patients who are CYPC19 poor metabolizers, or are taking medicines that inhibit CYP2C19, may require a dose reduction. Approximately 2% of Caucasians, 4% of African Americans, and 14% of Chinese are CYP2C19 poor metabolizers.|Medical Genetics Summaries|N|
CN781942|Lacosamide (brand name Vimpat) is an antiseizure drug indicated for adjunctive therapy for partial-onset seizures in pediatric and adult patients with epilepsy. Lacosamide is thought to work by selectively enhancing slow inactivation of voltage-dependent sodium channels. This stabilizes the neuronal membrane and suppresses the repetitive neuronal firing associated with seizures.
Several cytochrome P450 (CYP) enzymes are involved in metabolizing active lacosamide to an inactive metabolite, including CYP2C19. Individuals who have no CYP2C19 enzyme activity are known as "CYP2C19 poor metabolizers".
The FDA-approved drug label for lacosamide cites a small study that found plasma levels of lacosamide were similar in CYP2C19 poor metabolizers (n=4) and normal (extensive) metabolizers (n=8). Therefore, the recommended standard doses of lacosamide may be used for CYP2C19 poor metabolizers.|Medical Genetics Summaries|N|
CN850169|A nervous system disorder characterized by complex cortical malformations including in most cases dysmorphic basal ganglia and/or corpus callosum in which the cause of the disease is a variation in a tubulin gene.|MONDO|N|
CN911516|A benign, encapsulated tumor, arising from the follicular cells of the thyroid gland. It may be associated with thyroid hormone secretion but it does not have malignant characteristics.|MONDO|N|
CN924912|PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation is a rare, genetic neurological disease, with a highly variable phenotype, typically characterized by neonatal hypotonia, respiratory and feeding difficulties, global development delay (often with nonverbal and frequently non-ambulatory progression) and myopathic facies. Other frequently present features include seizures (or seizure-like episodes), visual impairment and encephalopathy.|MONDO|N|
CN924917|An Orphanet summary for this disease is currently under development. However, other data related to the disease are accessible from the Additional Information menu located on the right side of this page.|ORDO|N|
CN970821|Submicroscopic subtelomeric deletions of chromosome 9q are associated with a recognizable mental retardation syndrome (Harada et al., 2004; Iwakoshi et al., 2004; Stewart et al., 2004; Neas et al., 2005). Common features in patients with 9q subtelomeric deletion syndrome are severe mental retardation, hypotonia, brachy(micro)cephaly, epileptic seizures, flat face with hypertelorism, synophrys, anteverted nares, everted lower lip, carp mouth with macroglossia, and heart defects.
Genetic Heterogeneity of Kleefstra Syndrome
KLEFS2 (617768) is caused by mutation in the KMT2C gene (606833) on chromosome 7q36.|OMIM|N|
CN971896|Chronic muscle inflammation accompanied by muscle weakness.|HPO|N|